NM_000363.5(TNNI3):c.373-10=
|
rs7252610
|
0.99999
|
NM_001277115.2(DNAH11):c.1956C>T (p.Phe652=)
|
rs6963535
|
0.99232
|
NM_017950.4(CCDC40):c.207G>C (p.Val69=)
|
rs2289527
|
0.98631
|
NM_020779.4(WDR35):c.2824-14G>T
|
rs1191779
|
0.96807
|
NM_153717.3(EVC):c.769C>T (p.Leu257=)
|
rs6446393
|
0.95639
|
NM_024753.5(TTC21B):c.826A>G (p.Thr276Ala)
|
rs7592429
|
0.95088
|
NM_001377.3(DYNC2H1):c.5718C>A (p.Thr1906=)
|
rs585692
|
0.94841
|
NM_033028.5(BBS4):c.77-6G>A
|
rs8033604
|
0.94438
|
NM_012210.4(TRIM32):c.*129C>T
|
rs3019
|
0.93964
|
NM_001369.3(DNAH5):c.36T>G (p.His12Gln)
|
rs339445
|
0.92715
|
NM_001278293.3(ARL6):c.*225G>C
|
rs4857294
|
0.92035
|
NM_001199397.3(NEK1):c.*165G>A
|
rs4692721
|
0.91298
|
NM_198525.3(KIF7):c.1102A>G (p.Thr368Ala)
|
rs8037349
|
0.90740
|
NM_025114.4(CEP290):c.853-12_853-11insG
|
rs71082425
|
0.87640
|
NM_198525.3(KIF7):c.2658A>C (p.Ala886=)
|
rs3803531
|
0.85312
|
NM_001173990.3(TMEM216):c.264G>A (p.Pro88=)
|
rs3741265
|
0.84043
|
NM_001173990.3(TMEM216):c.432-11_432-10insA
|
rs11382548
|
0.83974
|
NM_001134831.2(AHI1):c.1780-14C>T
|
rs2757645
|
0.81825
|
NM_001277115.2(DNAH11):c.3112A>G (p.Thr1038Ala)
|
rs10224537
|
0.79851
|
NM_176824.3(BBS7):c.1891-12C>A
|
rs2706793
|
0.79185
|
NM_001277115.2(DNAH11):c.3630G>A (p.Gln1210=)
|
rs3827657
|
0.78845
|
NM_024685.4(BBS10):c.*1051C>T
|
rs3087711
|
0.77456
|
NM_023036.6(DNAI2):c.1672G>A (p.Ala558Thr)
|
rs1979370
|
0.77449
|
NM_153717.3(EVC):c.*2417T>C
|
rs6848370
|
0.75819
|
NM_001377.3(DYNC2H1):c.8612G>A (p.Arg2871Gln)
|
rs589623
|
0.75293
|
NM_001173990.3(TMEM216):c.*558G>A
|
rs7607
|
0.73129
|
NM_001277115.2(DNAH11):c.11298T>C (p.His3766=)
|
rs4722067
|
0.72158
|
NM_153717.3(EVC):c.2305-8T>C
|
rs1031919
|
0.72106
|
NM_153717.3(EVC):c.772T>C (p.Tyr258His)
|
rs6414624
|
0.72068
|
NM_000152.5(GAA):c.324T>C (p.Cys108=)
|
rs1800300
|
0.71989
|
NM_017950.4(CCDC40):c.3030T>C (p.Asp1010=)
|
rs12952612
|
0.71802
|
NM_018139.3(DNAAF2):c.*328A>T
|
rs12160
|
0.70946
|
NM_018139.3(DNAAF2):c.1185G>C (p.Ala395=)
|
rs2985686
|
0.70412
|
NM_001010892.3(RSPH4A):c.1766T>C (p.Leu589Pro)
|
rs784133
|
0.69639
|
NM_001378615.1(CC2D2A):c.3183-8T>C
|
rs13121363
|
0.69106
|
NM_001277115.2(DNAH11):c.12493A>G (p.Met4165Val)
|
rs6461613
|
0.69063
|
NM_153717.3(EVC):c.939+10A>G
|
rs2286342
|
0.67122
|
NM_001377.3(DYNC2H1):c.4238A>G (p.Lys1413Arg)
|
rs688906
|
0.66697
|
NM_024649.5(BBS1):c.*7A>G
|
rs8432
|
0.66464
|
NM_018139.3(DNAAF2):c.186G>C (p.Glu62Asp)
|
rs2985684
|
0.65918
|
NM_018139.3(DNAAF2):c.498C>T (p.Ala166=)
|
rs2985685
|
0.65889
|
NM_018139.3(DNAAF2):c.1482A>G (p.Thr494=)
|
rs2985687
|
0.65543
|
NM_153704.6(TMEM67):c.1066-3C>T
|
rs3097427
|
0.65135
|
NM_153704.6(TMEM67):c.1810A>G (p.Ile604Val)
|
rs3134031
|
0.64845
|
NM_001023570.4(IQCB1):c.574C>T (p.Leu192=)
|
rs4543051
|
0.64838
|
NM_001377.3(DYNC2H1):c.6951C>T (p.His2317=)
|
rs586592
|
0.64171
|
NM_001277115.2(DNAH11):c.7776C>T (p.His2592=)
|
rs1109806
|
0.63800
|
NM_015910.7(WDPCP):c.1915+13G>A
|
rs992214
|
0.63738
|
NM_147127.5(EVC2):c.*384T>A
|
rs2287576
|
0.63456
|
NM_024753.5(TTC21B):c.601G>A (p.Val201Met)
|
rs1432273
|
0.61903
|
NM_153717.3(EVC):c.*14G>A
|
rs2291151
|
0.61437
|
NM_153717.3(EVC):c.802-15C>T
|
rs4689313
|
0.60798
|
NM_198525.3(KIF7):c.1788+13T>C
|
rs1110060
|
0.59982
|
NM_001377.3(DYNC2H1):c.6711A>G (p.Arg2237=)
|
rs658804
|
0.59243
|
NM_001134831.2(AHI1):c.3426+13G>A
|
rs6914831
|
0.59084
|
NM_001277115.2(DNAH11):c.11122G>T (p.Val3708Leu)
|
rs4722064
|
0.57409
|
NM_198525.3(KIF7):c.3112-11_3112-10insCT
|
rs35820949
|
0.57089
|
NM_001378615.1(CC2D2A):c.*21G>C
|
rs1134634
|
0.57021
|
NM_153717.3(EVC):c.*931T>C
|
rs6840435
|
0.56030
|
NM_001377.3(DYNC2H1):c.12096T>C (p.Asp4032=)
|
rs2566913
|
0.54510
|
NM_024809.5(TCTN2):c.1128T>C (p.Pro376=)
|
rs7966867
|
0.54127
|
NM_018718.3(CEP41):c.*5102G>A
|
rs1990790
|
0.54035
|
NM_017777.4(MKS1):c.858+9A>G
|
rs3826300
|
0.53797
|
NM_023036.6(DNAI2):c.-54A>G
|
rs1877687
|
0.53697
|
NM_198525.3(KIF7):c.3048G>A (p.Ser1016=)
|
rs9672286
|
0.53592
|
NM_198525.3(KIF7):c.2896-14G>A
|
rs9672296
|
0.53577
|
NM_001277115.2(DNAH11):c.7901A>G (p.Asn2634Ser)
|
rs9639393
|
0.53316
|
NM_001369.3(DNAH5):c.13348A>G (p.Ile4450Val)
|
rs3734110
|
0.53284
|
NM_001369.3(DNAH5):c.2229T>C (p.Asp743=)
|
rs1445823
|
0.53068
|
NM_153717.3(EVC):c.1026G>C (p.Leu342=)
|
rs4688962
|
0.52761
|
NM_033028.5(BBS4):c.1061T>C (p.Ile354Thr)
|
rs2277598
|
0.52665
|
NM_198525.3(KIF7):c.3013G>A (p.Gly1005Arg)
|
rs12900805
|
0.52523
|
NM_198525.3(KIF7):c.2873G>T (p.Ser958Ile)
|
rs3803530
|
0.52464
|
NM_017950.4(CCDC40):c.1890T>G (p.Ala630=)
|
rs35578653
|
0.52425
|
NM_025132.4(WDR19):c.*229C>T
|
rs7564
|
0.52060
|
NM_012472.6(DNAAF11):c.695C>T (p.Thr232Ile)
|
rs2293979
|
0.51887
|
NM_178452.6(DNAAF1):c.1794C>G (p.Leu598=)
|
rs2288019
|
0.51121
|
NM_001377.3(DYNC2H1):c.12366+7G>A
|
rs10895417
|
0.51079
|
NM_023036.6(DNAI2):c.1062A>G (p.Glu354=)
|
rs8073660
|
0.50668
|
NM_001369.3(DNAH5):c.2296A>T (p.Ile766Leu)
|
rs4701997
|
0.50396
|
NM_001277115.2(DNAH11):c.4377+15A>G
|
rs57208694
|
0.50202
|
NM_001369.3(DNAH5):c.*1048A>G
|
rs2896111
|
0.49736
|
NM_153240.4(NPHP3):c.-69A>G
|
rs13099099
|
0.49619
|
NM_017950.4(CCDC40):c.3417A>G (p.Pro1139=)
|
rs2304854
|
0.49481
|
NM_001243156.2(TAF1C):c.*1064G>A
|
rs8692
|
0.49327
|
NM_017950.4(CCDC40):c.*149T>C
|
rs2304852
|
0.48973
|
NM_001369.3(DNAH5):c.4152A>G (p.Thr1384=)
|
rs7703349
|
0.48933
|
NM_001369.3(DNAH5):c.13359A>G (p.Thr4453=)
|
rs3734111
|
0.48605
|
NM_023036.6(DNAI2):c.1347+7C>T
|
rs2290955
|
0.46912
|
NM_001277115.2(DNAH11):c.705C>T (p.Asn235=)
|
rs10950854
|
0.45869
|
NM_198428.3(BBS9):c.*110C>T
|
rs1050721
|
0.45573
|
NM_147127.5(EVC2):c.2095A>G (p.Thr699Ala)
|
rs730469
|
0.45556
|
NM_152618.3(BBS12):c.*811C>G
|
rs309386
|
0.45540
|
NM_020779.4(WDR35):c.2496A>G (p.Glu832=)
|
rs6741091
|
0.45165
|
NM_001277115.2(DNAH11):c.2454A>G (p.Ala818=)
|
rs4615458
|
0.44959
|
NM_001277115.2(DNAH11):c.101A>T (p.Glu34Val)
|
rs2285944
|
0.44667
|
NM_001277115.2(DNAH11):c.100G>T (p.Glu34Ter)
|
rs2285943
|
0.44658
|
NM_001369.3(DNAH5):c.12401C>T (p.Ala4134Val)
|
rs30168
|
0.44440
|
NM_014714.4(IFT140):c.-17G>C
|
rs1894649
|
0.44364
|
NM_001369.3(DNAH5):c.1503T>C (p.Ile501=)
|
rs3213936
|
0.43495
|
NM_014714.4(IFT140):c.1968T>C (p.Ser656=)
|
rs8048410
|
0.42981
|
NM_024809.5(TCTN2):c.891+7G>A
|
rs7313032
|
0.42667
|
NM_019892.6(INPP5E):c.1248T>C (p.Thr416=)
|
rs10781542
|
0.42574
|
NM_019892.6(INPP5E):c.1284T>C (p.Gly428=)
|
rs10870194
|
0.42571
|
NM_001277115.2(DNAH11):c.6274-13T>G
|
rs2965401
|
0.42569
|
NM_001277115.2(DNAH11):c.7290C>T (p.Phe2430=)
|
rs12536928
|
0.42173
|
NM_152618.3(BBS12):c.1157G>A (p.Arg386Gln)
|
rs309370
|
0.42071
|
NM_153717.3(EVC):c.*2617G>A
|
rs3733186
|
0.41865
|
NM_006642.5(SDCCAG8):c.-47T>A
|
rs3904682
|
0.41725
|
NM_153717.3(EVC):c.*2713C>T
|
rs3733188
|
0.41663
|
NM_198525.3(KIF7):c.*344T>C
|
rs1054435
|
0.41372
|
NM_006642.5(SDCCAG8):c.1725G>A (p.Glu575=)
|
rs10927011
|
0.41204
|
NM_001369.3(DNAH5):c.192+14C>G
|
rs1530497
|
0.41173
|
NM_019892.6(INPP5E):c.*328T>C
|
rs35763810
|
0.41134
|
NM_018139.3(DNAAF2):c.2303A>G (p.Asp768Gly)
|
rs9989177
|
0.40859
|
NM_198428.3(BBS9):c.*103T>C
|
rs1050719
|
0.40841
|
NM_153717.3(EVC):c.969T>C (p.Asn323=)
|
rs4688963
|
0.40746
|
NM_001369.3(DNAH5):c.5172C>T (p.Ala1724=)
|
rs10041113
|
0.40226
|
NM_001369.3(DNAH5):c.5115-5T>C
|
rs4429853
|
0.40224
|
NM_001369.3(DNAH5):c.6264C>T (p.Ala2088=)
|
rs1348689
|
0.40167
|
NM_019892.6(INPP5E):c.*703A>G
|
rs1128874
|
0.40097
|
NM_019892.6(INPP5E):c.*816A>G
|
rs8413
|
0.40078
|
NM_001369.3(DNAH5):c.12468A>C (p.Gly4156=)
|
rs30169
|
0.40053
|
NM_001377.3(DYNC2H1):c.10043-15G>T
|
rs648387
|
0.39966
|
NM_001369.3(DNAH5):c.6444+11C>T
|
rs1348691
|
0.39914
|
NM_001369.3(DNAH5):c.71G>A (p.Gly24Glu)
|
rs1530496
|
0.39883
|
NM_002408.4(MGAT2):c.-234T>C
|
rs7519
|
0.39580
|
NM_001369.3(DNAH5):c.4374G>T (p.Arg1458=)
|
rs6554827
|
0.39500
|
NM_001277115.2(DNAH11):c.4449T>C (p.Ile1483=)
|
rs56029521
|
0.39493
|
NM_001369.3(DNAH5):c.12910-11C>T
|
rs30175
|
0.39090
|
NM_018718.3(CEP41):c.-5A>C
|
rs2287371
|
0.39010
|
NM_017950.4(CCDC40):c.*186A>C
|
rs2304851
|
0.38175
|
NM_001277115.2(DNAH11):c.10399G>A (p.Ala3467Thr)
|
rs2214326
|
0.38066
|
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_178452.6(DNAAF1):c.1178A>G (p.Lys393Arg)
|
rs17856705
|
0.37821
|
NM_001199397.3(NEK1):c.*495T>C
|
rs1129694
|
0.37477
|
NM_001369.3(DNAH5):c.5114+11T>C
|
rs6554820
|
0.37240
|
NM_015102.5(NPHP4):c.2802C>T (p.Arg934=)
|
rs3747992
|
0.36928
|
NM_024809.5(TCTN2):c.*468C>T
|
rs7398298
|
0.36606
|
NM_018718.3(CEP41):c.*4295G>C
|
rs4728195
|
0.36596
|
NM_012463.3(ATP6V0A2):c.-222C>G
|
rs71458814
|
0.36518
|
NM_012463.4(ATP6V0A2):c.-14C>T
|
rs1139320
|
0.36505
|
NM_024809.5(TCTN2):c.1393+7C>T
|
rs7298440
|
0.36136
|
NM_017950.4(CCDC40):c.*15T>C
|
rs2304853
|
0.35502
|
NM_017950.4(CCDC40):c.3210A>G (p.Thr1070=)
|
rs56407805
|
0.35335
|
NM_001369.3(DNAH5):c.9721-12A>T
|
rs12655133
|
0.35219
|
NM_000363.5(TNNI3):c.25-8T>A
|
rs3729836
|
0.35138
|
NM_015102.5(NPHP4):c.3570A>G (p.Glu1190=)
|
rs555164
|
0.35094
|
NM_017950.4(CCDC40):c.676+13T>C
|
rs7212525
|
0.34974
|
NM_001369.3(DNAH5):c.10473G>A (p.Thr3491=)
|
rs2401809
|
0.34838
|
NM_024753.5(TTC21B):c.1695C>T (p.Tyr565=)
|
rs6750044
|
0.34586
|
NM_001369.3(DNAH5):c.1672A>G (p.Thr558Ala)
|
rs1530498
|
0.34505
|
NM_014714.4(IFT140):c.*59T>C
|
rs1053730
|
0.34440
|
NM_001277115.2(DNAH11):c.3068T>C (p.Val1023Ala)
|
rs10269582
|
0.34362
|
NM_181426.2(CCDC39):c.1359C>T (p.Ser453=)
|
rs6769457
|
0.33560
|
NM_153717.3(EVC):c.939+4C>T
|
rs2286343
|
0.33466
|
NM_024649.5(BBS1):c.*955G>A
|
rs1791686
|
0.33323
|
NM_024753.5(TTC21B):c.2175T>C (p.Phe725=)
|
rs10176588
|
0.33260
|
NM_023036.6(DNAI2):c.865-5A>G
|
rs8076337
|
0.32904
|
NM_020800.3(IFT80):c.1756A>T (p.Thr586Ser)
|
rs6778728
|
0.31629
|
NM_020779.4(WDR35):c.2915A>G (p.Glu972Gly)
|
rs1191778
|
0.31383
|
NM_176824.3(BBS7):c.-133C>G
|
rs2271176
|
0.31261
|
NM_024809.5(TCTN2):c.*155G>A
|
rs12811354
|
0.31018
|
NM_001369.3(DNAH5):c.10140A>G (p.Glu3380=)
|
rs6554812
|
0.30832
|
NM_178452.6(DNAAF1):c.1505C>T (p.Pro502Leu)
|
rs11644164
|
0.30436
|
NM_014714.4(IFT140):c.2253T>C (p.Pro751=)
|
rs2076436
|
0.30184
|
NM_025132.4(WDR19):c.891C>T (p.Cys297=)
|
rs2167494
|
0.30055
|
NM_001377.3(DYNC2H1):c.11039C>T (p.Ala3680Val)
|
rs10895391
|
0.29753
|
NM_017651.4(AHI1):c.-293G>T
|
rs13197384
|
0.29491
|
NM_001256715.2(DNAAF3):c.1056G>A (p.Pro352=)
|
rs891187
|
0.29351
|
NM_176824.3(BBS7):c.*419T>A
|
rs3762840
|
0.29292
|
NM_012210.4(TRIM32):c.*1206T>C
|
rs2281627
|
0.28741
|
NM_147127.5(EVC2):c.3507C>T (p.His1169=)
|
rs12511039
|
0.28547
|
NM_178452.6(DNAAF1):c.2024G>C (p.Ser675Thr)
|
rs2288023
|
0.28462
|
NM_178452.6(DNAAF1):c.1898T>C (p.Leu633Ser)
|
rs2288020
|
0.28427
|
NM_178452.6(DNAAF1):c.1976T>C (p.Leu659Pro)
|
rs2288022
|
0.28412
|
NM_147127.5(EVC2):c.1437A>G (p.Glu479=)
|
rs13131655
|
0.27893
|
NM_018719.5(CDCA7L):c.*980T>C
|
rs7971
|
0.27747
|
NM_178452.6(DNAAF1):c.1698+7G>T
|
rs3826151
|
0.27717
|
NM_002055.5(GFAP):c.*28C>G
|
rs11558961
|
0.27601
|
NM_001134831.2(AHI1):c.*218C>T
|
rs1052502
|
0.27386
|
NM_001256715.2(DNAAF3):c.666T>C (p.Ala222=)
|
rs7260320
|
0.27290
|
NM_012210.4(TRIM32):c.-133G>C
|
rs12342207
|
0.27173
|
NM_176824.3(BBS7):c.*690T>C
|
rs3217753
|
0.26976
|
NM_198428.3(BBS9):c.1275+13G>T
|
rs11981364
|
0.26909
|
NM_153717.3(EVC):c.1068A>G (p.Leu356=)
|
rs33929747
|
0.26691
|
NM_213607.3(CCDC103):c.*4G>A
|
rs8079308
|
0.26209
|
NM_002055.5(GFAP):c.*1522T>C
|
rs17027
|
0.26200
|
NM_018139.3(DNAAF2):c.*126T>A
|
rs8952
|
0.26193
|
NM_023036.6(DNAI2):c.-72_-63del
|
rs5822035
|
0.25810
|
NM_153717.3(EVC):c.*2268G>A
|
rs4261923
|
0.25768
|
NM_213607.2(CCDC103):c.-164T>G
|
rs2277617
|
0.25672
|
NM_020779.4(WDR35):c.*523G>A
|
rs957614
|
0.25621
|
NM_020779.4(WDR35):c.*231C>A
|
rs1056233
|
0.25618
|
NM_006642.5(SDCCAG8):c.1134A>T (p.Glu378Asp)
|
rs2275155
|
0.25552
|
NM_001023570.4(IQCB1):c.1301G>A (p.Cys434Tyr)
|
rs17849995
|
0.25469
|
NM_198525.3(KIF7):c.3517+6C>T
|
rs74251725
|
0.25419
|
NM_001369.3(DNAH5):c.3258T>C (p.Leu1086=)
|
rs10057007
|
0.25350
|
NM_001256715.2(DNAAF3):c.875A>G (p.Glu292Gly)
|
rs2365725
|
0.24847
|
NM_001256715.2(DNAAF3):c.790-14C>T
|
rs7260371
|
0.24759
|
NM_024649.5(BBS1):c.724-8G>C
|
rs10896125
|
0.24158
|
NM_001369.3(DNAH5):c.8586G>T (p.Leu2862Phe)
|
rs10513155
|
0.23716
|
NM_024753.5(TTC21B):c.*1105G>T
|
rs6756388
|
0.23631
|
NM_018718.3(CEP41):c.*4037A>G
|
rs7793239
|
0.23508
|
NM_024649.5(BBS1):c.*840A>G
|
rs3741360
|
0.23322
|
NM_001277115.2(DNAH11):c.5621+11A>T
|
rs59447021
|
0.23311
|
NM_019892.6(INPP5E):c.1794G>T (p.Gly598=)
|
rs33982662
|
0.22912
|
NM_147127.5(EVC2):c.688A>G (p.Ser230Gly)
|
rs4689278
|
0.21710
|
NM_024649.5(BBS1):c.378G>A (p.Leu126=)
|
rs2298806
|
0.21158
|
NM_176824.3(BBS7):c.*1286G>A
|
rs1507996
|
0.21106
|
NM_153717.3(EVC):c.*1318G>C
|
rs67547790
|
0.21091
|
NM_152618.3(BBS12):c.-124G>A
|
rs309358
|
0.21071
|
NM_001277115.2(DNAH11):c.7335G>A (p.Ser2445=)
|
rs11768670
|
0.20699
|
NM_153717.3(EVC):c.*1112T>C
|
rs28460555
|
0.20666
|
NM_019892.6(INPP5E):c.*98G>A
|
rs35873563
|
0.20643
|
NM_001369.3(DNAH5):c.7388A>G (p.Gln2463Arg)
|
rs10078391
|
0.20605
|
NM_018719.5(CDCA7L):c.*501T>C
|
rs12700325
|
0.20592
|
NM_144596.4(TTC8):c.*238G>A
|
rs1048190
|
0.20574
|
NM_198525.3(KIF7):c.154G>A (p.Asp52Asn)
|
rs8179065
|
0.20556
|
NM_031885.5(BBS2):c.367A>G (p.Ile123Val)
|
rs11373
|
0.20545
|
NM_152618.3(BBS12):c.*248G>A
|
rs4833843
|
0.20459
|
NM_001378615.1(CC2D2A):c.3201G>A (p.Ser1067=)
|
rs73125627
|
0.20422
|
NM_012144.4(DNAI1):c.1003G>A (p.Val335Ile)
|
rs11793196
|
0.20136
|
NM_031885.3(BBS2):c.-239G>A
|
rs2303284
|
0.19980
|
NM_152618.3(BBS12):c.*187dup
|
rs386401352
|
0.19865
|
NM_015910.6(WDPCP):c.-396T>G
|
rs2278718
|
0.19689
|
NM_001377.3(DYNC2H1):c.10773G>A (p.Thr3591=)
|
rs12574626
|
0.19492
|
NM_017950.4(CCDC40):c.677-4C>G
|
rs2289530
|
0.19337
|
NM_014714.4(IFT140):c.2919C>T (p.Ala973=)
|
rs2235640
|
0.19119
|
NM_017950.4(CCDC40):c.1159+12C>T
|
rs2289533
|
0.19106
|
NM_152618.3(BBS12):c.1410C>T (p.Cys470=)
|
rs13135445
|
0.19015
|
NM_181426.2(CCDC39):c.2397G>A (p.Val799=)
|
rs7612917
|
0.19015
|
NM_018718.3(CEP41):c.*2041G>A
|
rs73152868
|
0.18522
|
NM_170784.3(MKKS):c.117C>T (p.Pro39=)
|
rs16991547
|
0.18435
|
NM_001010892.3(RSPH4A):c.1667G>A (p.Arg556His)
|
rs6927567
|
0.18378
|
NM_001010892.3(RSPH4A):c.*465T>C
|
rs6925922
|
0.18366
|
NM_014714.4(IFT140):c.635-12G>C
|
rs12447357
|
0.18304
|
NM_024649.5(BBS1):c.1413C>T (p.Leu471=)
|
rs3816492
|
0.17957
|
NM_147127.5(EVC2):c.52C>T (p.Leu18Phe)
|
rs6820907
|
0.17921
|
NM_023036.6(DNAI2):c.1483G>A (p.Val495Ile)
|
rs28725418
|
0.17848
|
NM_001384732.1(CPLANE1):c.6098T>G (p.Phe2033Cys)
|
rs10076911
|
0.17594
|
NM_198428.3(BBS9):c.1363G>A (p.Ala455Thr)
|
rs11773504
|
0.17589
|
NM_020800.3(IFT80):c.1926+13T>C
|
rs3737214
|
0.17528
|
NM_015102.5(NPHP4):c.1441+13A>G
|
rs7520105
|
0.17476
|
NM_001199397.3(NEK1):c.*710A>G
|
rs13212
|
0.17144
|
NM_018718.3(CEP41):c.*1859G>T
|
rs73152869
|
0.17105
|
NM_000152.5(GAA):c.-260G>C
|
rs2304849
|
0.16933
|
NM_024753.5(TTC21B):c.*517G>A
|
rs77199262
|
0.16849
|
NM_181426.2(CCDC39):c.*546A>C
|
rs141409397
|
0.16785
|
NM_024753.5(TTC21B):c.*531A>G
|
rs56115495
|
0.16645
|
NM_020800.3(IFT80):c.*42G>A
|
rs16831149
|
0.16470
|
NM_178452.6(DNAAF1):c.1975C>G (p.Leu659Val)
|
rs2288021
|
0.16102
|
NM_152618.3(BBS12):c.1380G>C (p.Val460=)
|
rs13135766
|
0.16051
|
NM_198428.3(BBS9):c.-407C>G
|
rs3750123
|
0.15979
|
NM_152618.3(BBS12):c.1399G>A (p.Asp467Asn)
|
rs13135778
|
0.15902
|
NM_152618.3(BBS12):c.1872A>G (p.Gln624=)
|
rs13102440
|
0.15807
|
NM_001378615.1(CC2D2A):c.124-6C>T
|
rs1861049
|
0.15686
|
NM_018718.3(CEP41):c.*1931C>T
|
rs17133175
|
0.15684
|
NM_012472.6(DNAAF11):c.1397T>C (p.Ile466Thr)
|
rs9297853
|
0.15619
|
NM_198428.3(BBS9):c.-12+7T>C
|
rs1468797
|
0.15207
|
NM_001384732.1(CPLANE1):c.5901-3T>C
|
rs10805625
|
0.15103
|
NM_001277115.2(DNAH11):c.1916A>G (p.Gln639Arg)
|
rs12670130
|
0.14853
|
NM_015910.7(WDPCP):c.1916-6C>T
|
rs2421862
|
0.14640
|
NM_181426.2(CCDC39):c.1248A>G (p.Glu416=)
|
rs2338436
|
0.14399
|
NM_002055.5(GFAP):c.*338C>T
|
rs8067254
|
0.14346
|
NM_015272.5(RPGRIP1L):c.3428C>G (p.Thr1143Ser)
|
rs111775292
|
0.14328
|
NM_001378454.1(ALMS1):c.*267T>A
|
rs62149804
|
0.14287
|
NM_170784.3(MKKS):c.1549C>T (p.Arg517Cys)
|
rs1547
|
0.14159
|
NM_170784.3(MKKS):c.1595G>T (p.Gly532Val)
|
rs1545
|
0.14147
|
NM_170784.3(MKKS):c.*435G>A
|
rs6108549
|
0.14136
|
NM_170784.3(MKKS):c.*392T>C
|
rs2294901
|
0.14121
|
NM_170784.3(MKKS):c.534C>T (p.Ile178=)
|
rs17852625
|
0.14082
|
NM_153717.3(EVC):c.*748T>C
|
rs62297707
|
0.13967
|
NM_152618.3(BBS12):c.1398C>T (p.Gly466=)
|
rs2292493
|
0.13826
|
NM_001277115.2(DNAH11):c.11202+13G>A
|
rs73279830
|
0.13824
|
NM_153240.5(NPHP3):c.3759G>A (p.Leu1253=)
|
rs6794496
|
0.13621
|
NM_001377.3(DYNC2H1):c.11649+12C>A
|
rs79978663
|
0.13559
|
NM_153717.3(EVC):c.*210C>A
|
rs16837692
|
0.13049
|
NM_153717.3(EVC):c.*1218C>T
|
rs12501119
|
0.13032
|
NM_023036.6(DNAI2):c.834C>T (p.Thr278=)
|
rs34159194
|
0.12850
|
NM_153717.3(EVC):c.*3165T>C
|
rs3755847
|
0.12593
|
NM_213607.3(CCDC103):c.276+6T>C
|
rs74349463
|
0.12539
|
NM_002055.5(GFAP):c.*814T>A
|
rs3744470
|
0.12217
|
NM_001277115.2(DNAH11):c.1065A>G (p.Pro355=)
|
rs4392792
|
0.12205
|
NM_153717.3(EVC):c.*2680G>A
|
rs3733187
|
0.12188
|
NM_153717.3(EVC):c.*2871C>T
|
rs3733189
|
0.12083
|
NM_025114.4(CEP290):c.2055T>C (p.Ala685=)
|
rs45465996
|
0.11965
|
NM_001134831.2(AHI1):c.*396_*397dup
|
rs397885237
|
0.11907
|
NM_017950.4(CCDC40):c.2323G>A (p.Val775Met)
|
rs60684213
|
0.11874
|
NM_001277115.2(DNAH11):c.7570T>C (p.Leu2524=)
|
rs2072220
|
0.11781
|
NM_015102.5(NPHP4):c.2643G>A (p.Ala881=)
|
rs3747990
|
0.11763
|
NM_015102.5(NPHP4):c.1926G>A (p.Glu642=)
|
rs12120967
|
0.11732
|
NM_001277115.2(DNAH11):c.5490G>A (p.Leu1830=)
|
rs55666134
|
0.11626
|
NM_001010892.3(RSPH4A):c.1879A>C (p.Asn627His)
|
rs9488991
|
0.11561
|
NM_025132.4(WDR19):c.852A>G (p.Ser284=)
|
rs17584431
|
0.11533
|
NM_018718.3(CEP41):c.*3887C>G
|
rs62471754
|
0.11370
|
NM_001277115.2(DNAH11):c.1961C>G (p.Ser654Cys)
|
rs62441683
|
0.11359
|
NM_147127.5(EVC2):c.2061T>C (p.Arg687=)
|
rs73198153
|
0.11242
|
NM_147127.5(EVC2):c.519+15G>A
|
rs17688121
|
0.11080
|
NM_024753.5(TTC21B):c.*878A>G
|
rs62177807
|
0.11039
|
NM_019892.6(INPP5E):c.*926T>C
|
rs1128877
|
0.10951
|
NM_015272.5(RPGRIP1L):c.3936C>T (p.Asp1312=)
|
rs4784320
|
0.10935
|
NM_024685.4(BBS10):c.*769G>C
|
rs73383520
|
0.10902
|
NM_015272.5(RPGRIP1L):c.3073G>A (p.Gly1025Ser)
|
rs2111119
|
0.10881
|
NM_198428.3(BBS9):c.-259G>A
|
rs73095326
|
0.10731
|
NM_002055.5(GFAP):c.*1001G>A
|
rs1042329
|
0.10683
|
NM_002055.5(GFAP):c.*1620C>T
|
rs7049
|
0.10679
|
NM_012210.4(TRIM32):c.1254G>A (p.Val418=)
|
rs1661300
|
0.10569
|
NM_001277115.2(DNAH11):c.3256-10C>G
|
rs17745898
|
0.10468
|
NM_001369.3(DNAH5):c.11372C>T (p.Thr3791Ile)
|
rs17263496
|
0.10451
|
NM_001384732.1(CPLANE1):c.5381C>T (p.Pro1794Leu)
|
rs75589774
|
0.10422
|
NM_001377.3(DYNC2H1):c.6420T>C (p.Asn2140=)
|
rs11225584
|
0.10418
|
NM_019892.6(INPP5E):c.972A>G (p.Pro324=)
|
rs10870199
|
0.10324
|
NM_020779.4(WDR35):c.3121+12A>C
|
rs28502265
|
0.10214
|
NM_020779.4(WDR35):c.*1050T>C
|
rs10197890
|
0.10201
|
NM_020779.4(WDR35):c.*98T>C
|
rs6748924
|
0.10155
|
NM_001377.3(DYNC2H1):c.8580A>G (p.Glu2860=)
|
rs17394217
|
0.10011
|
NM_153717.3(EVC):c.249A>G (p.Ser83=)
|
rs35870680
|
0.09998
|
NM_001277115.2(DNAH11):c.54C>T (p.Thr18=)
|
rs2285942
|
0.09968
|
NM_017950.4(CCDC40):c.873C>T (p.Phe291=)
|
rs2289531
|
0.09951
|
NM_001369.3(DNAH5):c.12658A>G (p.Thr4220Ala)
|
rs2277046
|
0.09802
|
NM_152618.3(BBS12):c.1200G>A (p.Val400=)
|
rs309371
|
0.09713
|
NM_001199397.3(NEK1):c.2255A>G (p.Glu752Gly)
|
rs34099167
|
0.09622
|
NM_181426.2(CCDC39):c.2301G>A (p.Leu767=)
|
rs11914833
|
0.09489
|
NM_213607.3(CCDC103):c.-45G>A
|
rs2277616
|
0.09294
|
NM_001023570.4(IQCB1):c.1178T>A (p.Ile393Asn)
|
rs1141528
|
0.09226
|
NM_001199397.3(NEK1):c.3033G>A (p.Pro1011=)
|
rs7655924
|
0.09091
|
NM_024753.4(TTC21B):c.-145G>A
|
rs111867313
|
0.09068
|
NM_001377.3(DYNC2H1):c.5558+4A>G
|
rs11225578
|
0.09042
|
NM_001377.3(DYNC2H1):c.1021C>T (p.His341Tyr)
|
rs17301182
|
0.08896
|
NM_001377.3(DYNC2H1):c.3862A>G (p.Thr1288Ala)
|
rs17301750
|
0.08745
|
NM_017950.4(CCDC40):c.1889C>T (p.Ala630Val)
|
rs61749058
|
0.08699
|
NM_018718.2(CEP41):c.-144G>A
|
rs10230435
|
0.08654
|
NM_001277115.2(DNAH11):c.11272T>C (p.Ser3758Pro)
|
rs17145720
|
0.08574
|
NM_017777.4(MKS1):c.*75C>T
|
rs35184412
|
0.08455
|
NM_147127.5(EVC2):c.2235A>G (p.Glu745=)
|
rs60121553
|
0.08440
|
NM_014714.4(IFT140):c.1192G>A (p.Val398Ile)
|
rs34762152
|
0.08326
|
NM_017777.4(MKS1):c.*414C>T
|
rs2302313
|
0.08215
|
NM_001010892.3(RSPH4A):c.*436A>C
|
rs9488993
|
0.08172
|
NM_001010892.3(RSPH4A):c.446C>G (p.Thr149Ser)
|
rs13213314
|
0.08023
|
NM_023073.3(CPLANE1):c.-234G>C
|
rs80164363
|
0.08017
|
NM_001173990.3(TMEM216):c.-2G>T
|
rs7107543
|
0.08005
|
NM_001044385.3(TMEM237):c.1096G>T (p.Ala366Ser)
|
rs73989521
|
0.07946
|
NM_020779.4(WDR35):c.*2463C>T
|
rs3731661
|
0.07941
|
NM_153717.3(EVC):c.221A>C (p.Gln74Pro)
|
rs2291157
|
0.07908
|
NM_001378615.1(CC2D2A):c.156C>T (p.Ser52=)
|
rs1861050
|
0.07770
|
NM_001199397.3(NEK1):c.1068G>A (p.Arg356=)
|
rs17055010
|
0.07760
|
NM_178452.6(DNAAF1):c.1296G>C (p.Glu432Asp)
|
rs9972733
|
0.07717
|
NM_001199397.3(NEK1):c.-528G>A
|
rs75976017
|
0.07715
|
NM_031885.5(BBS2):c.-40T>C
|
rs115078074
|
0.07623
|
NM_031885.5(BBS2):c.-42T>G
|
rs78076550
|
0.07623
|
NM_020779.4(WDR35):c.53A>G (p.Gln18Arg)
|
rs1060742
|
0.07465
|
NM_000363.5(TNNI3):c.-35C>A
|
rs3729707
|
0.07367
|
NM_000363.5(TNNI3):c.150+13G>A
|
rs73617692
|
0.07353
|
NM_001199397.3(NEK1):c.607-3T>C
|
rs55679731
|
0.07330
|
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln)
|
rs35953626
|
0.07232
|
NM_001277115.2(DNAH11):c.2835A>G (p.Gln945=)
|
rs17144747
|
0.07116
|
NM_147127.5(EVC2):c.-15G>A
|
rs76269601
|
0.07112
|
NM_001377.3(DYNC2H1):c.12457-6C>T
|
rs11225812
|
0.07031
|
NM_147127.5(EVC2):c.2046+5A>G
|
rs6850875
|
0.06860
|
NM_033028.5(BBS4):c.-17C>T
|
rs56368716
|
0.06844
|
NM_001178007.1(BBS12):c.-391C>T
|
rs28642232
|
0.06726
|
NM_152618.3(BBS12):c.51A>G (p.Gln17=)
|
rs17006077
|
0.06714
|
NM_153717.3(EVC):c.*2009T>C
|
rs79152885
|
0.06541
|
NM_153717.3(EVC):c.*53T>C
|
rs7676531
|
0.06533
|
NM_001377.3(DYNC2H1):c.21C>T (p.Asp7=)
|
rs17301028
|
0.06471
|
NM_153717.3(EVC):c.1115C>T (p.Thr372Met)
|
rs28483498
|
0.06438
|
NM_024685.4(BBS10):c.*498A>G
|
rs79517322
|
0.06435
|
NM_017777.4(MKS1):c.1671G>C (p.Leu557=)
|
rs11548967
|
0.06374
|
NM_152732.5(RSPH9):c.781G>A (p.Val261Ile)
|
rs16896629
|
0.06068
|
NM_001277115.2(DNAH11):c.13502A>G (p.Lys4501Arg)
|
rs77448980
|
0.06056
|
NM_001199397.3(NEK1):c.1146T>C (p.Ile382=)
|
rs56064008
|
0.06017
|
NM_001256715.2(DNAAF3):c.510A>G (p.Val170=)
|
rs56726774
|
0.06016
|
NM_153717.3(EVC):c.341C>T (p.Ala114Val)
|
rs16837598
|
0.05943
|
NM_178452.6(DNAAF1):c.1161C>G (p.Asp387Glu)
|
rs36062234
|
0.05873
|
NM_001199397.3(NEK1):c.1830A>G (p.Glu610=)
|
rs17544885
|
0.05849
|
NM_024809.5(TCTN2):c.*412T>C
|
rs112525270
|
0.05727
|
NM_024809.5(TCTN2):c.873A>G (p.Ala291=)
|
rs73418153
|
0.05717
|
NM_024809.5(TCTN2):c.225C>T (p.Asn75=)
|
rs73416301
|
0.05714
|
NM_024809.5(TCTN2):c.83-4C>T
|
rs73416299
|
0.05712
|
NM_024809.5(TCTN2):c.*87C>T
|
rs113292231
|
0.05704
|
NM_001256715.2(DNAAF3):c.1001T>C (p.Leu334Pro)
|
rs890871
|
0.05642
|
NM_001256715.2(DNAAF3):c.327A>G (p.Arg109=)
|
rs3848618
|
0.05626
|
NM_001256715.2(DNAAF3):c.529G>A (p.Gly177Ser)
|
rs58824375
|
0.05620
|
NM_020779.4(WDR35):c.2599G>A (p.Ala867Thr)
|
rs2293669
|
0.05563
|
NM_017950.3(CCDC40):c.-36C>T
|
rs73437681
|
0.05525
|
NM_019892.6(INPP5E):c.1359C>T (p.Pro453=)
|
rs35774078
|
0.05472
|
NM_024685.4(BBS10):c.1616C>T (p.Pro539Leu)
|
rs35676114
|
0.05430
|
NM_025114.4(CEP290):c.3710G>A (p.Arg1237His)
|
rs7307793
|
0.05381
|
NM_178452.6(DNAAF1):c.1848G>A (p.Ala616=)
|
rs76108116
|
0.05370
|
NM_001277115.2(DNAH11):c.4904A>G (p.Asp1635Gly)
|
rs17144835
|
0.05345
|
NM_017950.4(CCDC40):c.507G>A (p.Ser169=)
|
rs2885349
|
0.05290
|
NM_001277115.2(DNAH11):c.11325G>A (p.Ala3775=)
|
rs12666072
|
0.05248
|
NM_025114.4(CEP290):c.2512A>G (p.Lys838Glu)
|
rs11104738
|
0.05247
|
NM_147127.5(EVC2):c.3253C>T (p.Leu1085=)
|
rs112554914
|
0.05240
|
NM_001199397.3(NEK1):c.1876G>A (p.Ala626Thr)
|
rs33933790
|
0.05183
|
NM_014714.4(IFT140):c.1862G>A (p.Arg621Gln)
|
rs11648609
|
0.05163
|
NM_020779.4(WDR35):c.*1489G>A
|
rs10182866
|
0.05128
|
NM_014714.4(IFT140):c.3209C>T (p.Ala1070Val)
|
rs2235638
|
0.05119
|
NM_025132.4(WDR19):c.-9A>G
|
rs60800612
|
0.05032
|
NM_178452.6(DNAAF1):c.-83dup
|
rs149813685
|
0.04983
|
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr)
|
rs61747071
|
0.04969
|
NM_181426.2(CCDC39):c.*133A>T
|
rs113696248
|
0.04944
|
NM_001384732.1(CPLANE1):c.6427A>G (p.Ile2143Val)
|
rs6884652
|
0.04935
|
NM_000363.5(TNNI3):c.537G>A (p.Glu179=)
|
rs3729841
|
0.04860
|
NM_023036.6(DNAI2):c.1053G>A (p.Thr351=)
|
rs34392071
|
0.04853
|
NM_033028.4(BBS4):c.-38C>A
|
rs11637927
|
0.04836
|
NM_015102.5(NPHP4):c.1470C>T (p.Leu490=)
|
rs12116997
|
0.04804
|
NM_016464.4(TMEM138):c.-308A>G
|
rs7120780
|
0.04768
|
NM_015272.5(RPGRIP1L):c.3790G>A (p.Asp1264Asn)
|
rs3213758
|
0.04663
|
NM_017950.4(CCDC40):c.1338C>T (p.Leu446=)
|
rs61734950
|
0.04617
|
NM_031427.4(DNAL1):c.*7710_*7711dup
|
rs201343251
|
0.04579
|
NM_152732.5(RSPH9):c.-18A>G
|
rs59110261
|
0.04516
|
NM_015910.7(WDPCP):c.802G>A (p.Gly268Ser)
|
rs17617459
|
0.04486
|
NM_001377.3(DYNC2H1):c.911A>T (p.Gln304Leu)
|
rs12146610
|
0.04434
|
NM_015102.5(NPHP4):c.86C>T (p.Thr29Met)
|
rs12142270
|
0.04382
|
NM_017777.4(MKS1):c.*472C>G
|
rs17174788
|
0.04345
|
NM_181426.2(CCDC39):c.*499A>C
|
rs59016311
|
0.04325
|
NM_153240.5(NPHP3):c.2610G>A (p.Pro870=)
|
rs16839515
|
0.04323
|
NM_001378615.1(CC2D2A):c.777C>T (p.His259=)
|
rs2286976
|
0.04284
|
NM_025114.4(CEP290):c.2717T>G (p.Leu906Trp)
|
rs7970228
|
0.04262
|
NM_024685.4(BBS10):c.*805T>C
|
rs73390067
|
0.04252
|
NM_024685.4(BBS10):c.-52C>T
|
rs79580268
|
0.04214
|
NM_001277115.2(DNAH11):c.1702G>A (p.Ala568Thr)
|
rs72655988
|
0.04164
|
NM_020779.4(WDR35):c.*1127A>G
|
rs75503594
|
0.04161
|
NM_181426.2(CCDC39):c.472C>G (p.Leu158Val)
|
rs57838737
|
0.04150
|
NM_001277115.2(DNAH11):c.1199C>T (p.Thr400Ile)
|
rs72655982
|
0.04096
|
NM_153704.6(TMEM67):c.2892A>C (p.Thr964=)
|
rs16916221
|
0.04084
|
NM_024753.5(TTC21B):c.2211+13A>G
|
rs73969727
|
0.04080
|
NM_000363.5(TNNI3):c.204G>T (p.Arg68=)
|
rs3729711
|
0.04033
|
NM_198525.3(KIF7):c.-5T>G
|
rs62021460
|
0.03972
|
NM_025132.4(WDR19):c.910G>A (p.Val304Ile)
|
rs75964850
|
0.03961
|
NM_001378615.1(CC2D2A):c.1127A>C (p.Glu376Ala)
|
rs16892095
|
0.03933
|
NM_001369.3(DNAH5):c.13462C>A (p.Pro4488Thr)
|
rs113425437
|
0.03898
|
NM_153717.3(EVC):c.*908G>A
|
rs13119698
|
0.03897
|
NM_024809.5(TCTN2):c.-55C>A
|
rs78846567
|
0.03708
|
NM_001199397.3(NEK1):c.1388C>T (p.Ala463Val)
|
rs34540355
|
0.03694
|
NM_178452.6(DNAAF1):c.988C>A (p.Arg330=)
|
rs112191420
|
0.03681
|
NM_152618.3(BBS12):c.*613T>C
|
rs74451613
|
0.03678
|
NM_144596.4(TTC8):c.1432-12T>C
|
rs79747892
|
0.03653
|
NM_020779.4(WDR35):c.*2957G>A
|
rs76072774
|
0.03646
|
NM_020779.4(WDR35):c.549C>T (p.Tyr183=)
|
rs34169020
|
0.03645
|
NM_144596.4(TTC8):c.*472A>C
|
rs59300815
|
0.03638
|
NM_025132.4(WDR19):c.3250G>A (p.Gly1084Ser)
|
rs16995209
|
0.03548
|
NM_001134831.2(AHI1):c.-299G>A
|
rs113052089
|
0.03529
|
NM_198428.3(BBS9):c.1017-6T>C
|
rs61756571
|
0.03520
|
NM_001277115.2(DNAH11):c.7756T>C (p.Tyr2586His)
|
rs2003417
|
0.03504
|
NM_152618.3(BBS12):c.1286G>C (p.Ser429Thr)
|
rs7665271
|
0.03441
|
NM_031885.5(BBS2):c.1659+3A>G
|
rs6499838
|
0.03415
|
NM_153240.5(NPHP3):c.*266G>A
|
rs11708200
|
0.03396
|
NM_178452.6(DNAAF1):c.1077G>A (p.Ala359=)
|
rs35504640
|
0.03388
|
NM_001128178.3(NPHP1):c.771+39C>T
|
rs73954628
|
0.03266
|
NM_153717.3(EVC):c.1096C>T (p.Leu366=)
|
rs6854138
|
0.03243
|
NM_152618.3(BBS12):c.1209G>A (p.Val403=)
|
rs17006092
|
0.03229
|
NM_024649.5(BBS1):c.700G>A (p.Glu234Lys)
|
rs35520756
|
0.03206
|
NM_178452.6(DNAAF1):c.919C>G (p.Gln307Glu)
|
rs111472069
|
0.03191
|
NM_152618.3(BBS12):c.1062G>C (p.Val354=)
|
rs34296401
|
0.03153
|
NM_001277115.2(DNAH11):c.12508-12T>C
|
rs72658822
|
0.03145
|
NM_153240.5(NPHP3):c.*657C>T
|
rs79224795
|
0.03141
|
NM_001377.3(DYNC2H1):c.2454G>A (p.Glu818=)
|
rs77738279
|
0.03138
|
NM_001243156.2(TAF1C):c.*1082A>G
|
rs2288024
|
0.03108
|
NM_001384732.1(CPLANE1):c.378G>A (p.Gly126=)
|
rs73750958
|
0.03087
|
NM_001277115.2(DNAH11):c.12288G>A (p.Arg4096=)
|
rs72658820
|
0.03062
|
NM_181426.2(CCDC39):c.*575T>C
|
rs79349285
|
0.03058
|
NM_147127.5(EVC2):c.3023C>T (p.Ser1008Leu)
|
rs60809236
|
0.03040
|
NM_015102.5(NPHP4):c.2724G>A (p.Ser908=)
|
rs114545322
|
0.03032
|
NM_017950.4(CCDC40):c.2868G>A (p.Lys956=)
|
rs1982243
|
0.02985
|
NM_001010892.3(RSPH4A):c.2099C>T (p.Ala700Val)
|
rs9488992
|
0.02977
|
NM_153240.5(NPHP3):c.2571-7T>C
|
rs62292468
|
0.02974
|
NM_001384732.1(CPLANE1):c.5343A>T (p.Thr1781=)
|
rs73750949
|
0.02942
|
NM_001369.3(DNAH5):c.6444+8A>G
|
rs1348690
|
0.02931
|
NM_015910.7(WDPCP):c.*195G>A
|
rs55807617
|
0.02897
|
NM_198428.3(BBS9):c.1029A>G (p.Gly343=)
|
rs35195153
|
0.02890
|
NM_001369.3(DNAH5):c.1772T>G (p.Leu591Arg)
|
rs35090077
|
0.02877
|
NM_001384732.1(CPLANE1):c.94G>A (p.Val32Ile)
|
rs73750959
|
0.02866
|
NM_198525.3(KIF7):c.2043T>A (p.Val681=)
|
rs72750755
|
0.02861
|
NM_198428.3(BBS9):c.1284C>T (p.Thr428=)
|
rs6964382
|
0.02858
|
NM_001023570.4(IQCB1):c.-193T>C
|
rs114555283
|
0.02852
|
NM_001369.3(DNAH5):c.1395C>T (p.Ser465=)
|
rs34580014
|
0.02846
|
NM_015102.5(NPHP4):c.1631C>G (p.Ala544Gly)
|
rs12093500
|
0.02840
|
NM_001277115.2(DNAH11):c.13547C>T (p.Ala4516Val)
|
rs72658840
|
0.02832
|
NM_001377.3(DYNC2H1):c.9353+7G>A
|
rs78309870
|
0.02821
|
NM_024753.5(TTC21B):c.*105G>A
|
rs74548052
|
0.02812
|
NM_152618.3(BBS12):c.1847G>A (p.Ser616Asn)
|
rs28507107
|
0.02805
|
NM_153717.3(EVC):c.939+11G>T
|
rs55955937
|
0.02788
|
NM_001080432.3(FTO):c.18T>C (p.Thr6=)
|
rs73609956
|
0.02787
|
NM_017950.4(CCDC40):c.504G>A (p.Pro168=)
|
rs74000351
|
0.02786
|
NM_012144.4(DNAI1):c.1460T>G (p.Val487Gly)
|
rs11999454
|
0.02757
|
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_024809.5(TCTN2):c.-95G>A
|
rs7980060
|
0.02722
|
NM_178452.6(DNAAF1):c.1303G>A (p.Asp435Asn)
|
rs149158199
|
0.02715
|
NM_024649.5(BBS1):c.*428G>C
|
rs41302425
|
0.02701
|
NM_014714.4(IFT140):c.1352C>T (p.Ala451Val)
|
rs8060532
|
0.02699
|
NM_014714.4(IFT140):c.1682G>A (p.Ser561Asn)
|
rs8050974
|
0.02675
|
NM_147127.5(EVC2):c.1059C>T (p.Gly353=)
|
rs77793386
|
0.02666
|
NM_001082538.3(TCTN1):c.473-10T>A
|
rs12307716
|
0.02637
|
NM_153717.3(EVC):c.*1060A>C
|
rs71599848
|
0.02627
|
NM_181426.2(CCDC39):c.545C>G (p.Thr182Ser)
|
rs112738198
|
0.02615
|
NM_001369.3(DNAH5):c.12708T>C (p.Gly4236=)
|
rs61744054
|
0.02551
|
NM_001369.3(DNAH5):c.8449-12T>C
|
rs111313933
|
0.02531
|
NM_152618.3(BBS12):c.1381A>C (p.Asn461His)
|
rs10027479
|
0.02523
|
NM_153240.5(NPHP3):c.*785G>A
|
rs6774366
|
0.02518
|
NM_000152.5(GAA):c.-178G>A
|
rs77514632
|
0.02487
|
NM_001369.3(DNAH5):c.9522G>A (p.Thr3174=)
|
rs35233147
|
0.02485
|
NM_019892.6(INPP5E):c.33C>G (p.Ser11=)
|
rs79161998
|
0.02475
|
NM_170784.3(MKKS):c.*38A>G
|
rs79940214
|
0.02456
|
NM_170784.3(MKKS):c.*46G>T
|
rs74703166
|
0.02454
|
NM_000152.5(GAA):c.-338C>G
|
rs144639114
|
0.02435
|
NM_012472.6(DNAAF11):c.283C>T (p.Leu95=)
|
rs74599901
|
0.02427
|
NM_014714.4(IFT140):c.492-14G>A
|
rs75359189
|
0.02409
|
NM_001369.3(DNAH5):c.58-13T>C
|
rs115758625
|
0.02407
|
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_020800.3(IFT80):c.462G>A (p.Ala154=)
|
rs34182424
|
0.02371
|
NM_017950.4(CCDC40):c.*654A>C
|
rs2289538
|
0.02366
|
NM_001377.3(DYNC2H1):c.4728C>G (p.Asn1576Lys)
|
rs72989738
|
0.02353
|
NM_001044385.3(TMEM237):c.9T>G (p.Thr3=)
|
rs6736435
|
0.02349
|
NM_014714.4(IFT140):c.1918G>A (p.Asp640Asn)
|
rs61742753
|
0.02347
|
NM_001369.3(DNAH5):c.8898G>A (p.Thr2966=)
|
rs111995400
|
0.02321
|
NM_001384732.1(CPLANE1):c.6051T>C (p.Ala2017=)
|
rs61746147
|
0.02316
|
NM_001384732.1(CPLANE1):c.9346G>A (p.Gly3116Arg)
|
rs7702892
|
0.02310
|
NM_153717.3(EVC):c.*1375A>G
|
rs114994758
|
0.02309
|
NM_001384732.1(CPLANE1):c.7775C>T (p.Pro2592Leu)
|
rs16903518
|
0.02308
|
NM_001369.3(DNAH5):c.7274G>A (p.Arg2425His)
|
rs35900306
|
0.02307
|
NM_001369.3(DNAH5):c.*649G>C
|
rs77289648
|
0.02281
|
NM_015102.5(NPHP4):c.2219G>A (p.Arg740His)
|
rs34248917
|
0.02256
|
NM_001173990.3(TMEM216):c.*444T>C
|
rs116047887
|
0.02253
|
NM_014714.4(IFT140):c.4380C>T (p.Asp1460=)
|
rs61749517
|
0.02245
|
NM_001377.3(DYNC2H1):c.1367G>A (p.Arg456Gln)
|
rs17099969
|
0.02244
|
NM_001384732.1(CPLANE1):c.3743G>A (p.Gly1248Asp)
|
rs72736758
|
0.02238
|
NM_014714.4(IFT140):c.839G>A (p.Arg280Gln)
|
rs35404373
|
0.02210
|
NM_198525.3(KIF7):c.1444-4A>G
|
rs112333674
|
0.02204
|
NM_014714.4(IFT140):c.2008C>T (p.Pro670Ser)
|
rs34900355
|
0.02198
|
NM_001277115.2(DNAH11):c.421G>T (p.Asp141Tyr)
|
rs72655969
|
0.02191
|
NM_015272.5(RPGRIP1L):c.1341G>A (p.Leu447=)
|
rs61743997
|
0.02188
|
NM_015681.6(B9D1):c.-70G>A
|
rs2296978
|
0.02165
|
NM_001369.3(DNAH5):c.4431C>T (p.Ser1477=)
|
rs74451896
|
0.02161
|
NM_024649.5(BBS1):c.1349G>A (p.Arg450Gln)
|
rs77298332
|
0.02147
|
NM_147127.5(EVC2):c.3557+10G>A
|
rs116218656
|
0.02138
|
NM_001369.3(DNAH5):c.13071C>T (p.Ala4357=)
|
rs10077457
|
0.02135
|
NM_006642.5(SDCCAG8):c.912C>T (p.Thr304=)
|
rs976529
|
0.02103
|
NM_020779.4(WDR35):c.*2836C>T
|
rs74469198
|
0.02096
|
NM_198525.3(KIF7):c.216G>A (p.Gln72=)
|
rs113881220
|
0.02077
|
NM_031885.5(BBS2):c.1511C>T (p.Ala504Val)
|
rs16957538
|
0.02076
|
NM_018718.3(CEP41):c.*927T>C
|
rs73152870
|
0.02074
|
NM_012144.4(DNAI1):c.378A>G (p.Glu126=)
|
rs3818577
|
0.02063
|
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_015102.5(NPHP4):c.*314T>G
|
rs111874674
|
0.02020
|
NM_018139.3(DNAAF2):c.-79C>T
|
rs78309551
|
0.02003
|
NM_020800.3(IFT80):c.-40C>T
|
rs79756374
|
0.01997
|
NM_014714.4(IFT140):c.838C>T (p.Arg280Trp)
|
rs8058674
|
0.01985
|
NM_001142301.1(TMEM67):c.-200G>C
|
rs79833026
|
0.01971
|
NM_012144.4(DNAI1):c.-178G>C
|
rs3802429
|
0.01938
|
NM_019892.6(INPP5E):c.-174G>A
|
rs544247720
|
0.01935
|
NM_001044385.3(TMEM237):c.395+7A>G
|
rs78297522
|
0.01932
|
NM_152618.3(BBS12):c.378G>T (p.Glu126Asp)
|
rs309369
|
0.01932
|
NM_001082538.3(TCTN1):c.894C>T (p.Leu298=)
|
rs16940927
|
0.01924
|
NM_198525.3(KIF7):c.*139C>T
|
rs8037511
|
0.01904
|
NM_020779.4(WDR35):c.*2408G>C
|
rs112569580
|
0.01898
|
NM_019892.6(INPP5E):c.603C>G (p.Ile201Met)
|
rs36064831
|
0.01896
|
NM_181426.2(CCDC39):c.2230C>G (p.Gln744Glu)
|
rs61733579
|
0.01895
|
NM_001384732.1(CPLANE1):c.1809T>C (p.Thr603=)
|
rs115435816
|
0.01890
|
NM_014714.4(IFT140):c.2454C>T (p.Asp818=)
|
rs34668993
|
0.01885
|
NM_016464.5(TMEM138):c.261G>A (p.Val87=)
|
rs35245221
|
0.01861
|
NM_017950.4(CCDC40):c.2255T>C (p.Leu752Pro)
|
rs117203086
|
0.01848
|
NM_178452.6(DNAAF1):c.228C>T (p.His76=)
|
rs61743547
|
0.01842
|
NM_001384732.1(CPLANE1):c.*889A>G
|
rs75549748
|
0.01830
|
NM_025132.4(WDR19):c.1357-10T>C
|
rs16995189
|
0.01827
|
NM_153240.5(NPHP3):c.864T>A (p.Thr288=)
|
rs147932449
|
0.01825
|
NM_017950.4(CCDC40):c.2604C>T (p.Phe868=)
|
rs61749027
|
0.01818
|
NM_001377.3(DYNC2H1):c.4068C>T (p.Phe1356=)
|
rs74713170
|
0.01817
|
NM_001384732.1(CPLANE1):c.5900+7G>T
|
rs78315844
|
0.01816
|
NM_001384732.1(CPLANE1):c.*641C>T
|
rs116744214
|
0.01809
|
NM_001384732.1(CPLANE1):c.5512A>G (p.Thr1838Ala)
|
rs76245173
|
0.01809
|
NM_020779.4(WDR35):c.*3268C>T
|
rs113280329
|
0.01807
|
NM_020779.4(WDR35):c.*1479C>T
|
rs77400381
|
0.01800
|
NM_001377.3(DYNC2H1):c.2818+13T>C
|
rs150786504
|
0.01790
|
NM_012144.4(DNAI1):c.297A>G (p.Gln99=)
|
rs77344166
|
0.01778
|
NM_153717.3(EVC):c.*2277G>C
|
rs28452978
|
0.01778
|
NM_024753.5(TTC21B):c.1417C>T (p.Leu473Phe)
|
rs2163649
|
0.01776
|
NM_017950.4(CCDC40):c.*265C>T
|
rs74000393
|
0.01774
|
NM_002408.4(MGAT2):c.261G>T (p.Leu87=)
|
rs2228449
|
0.01763
|
NM_018719.5(CDCA7L):c.*1052G>A
|
rs72658841
|
0.01754
|
NM_153704.6(TMEM67):c.*19T>C
|
rs55850117
|
0.01744
|
NM_001277115.2(DNAH11):c.9098T>C (p.Ile3033Thr)
|
rs28751578
|
0.01743
|
NM_031885.5(BBS2):c.612+12C>A
|
rs77019529
|
0.01713
|
NM_198428.3(BBS9):c.*549A>G
|
rs73690947
|
0.01710
|
NM_014714.4(IFT140):c.3743T>C (p.Ile1248Thr)
|
rs79494390
|
0.01709
|
NM_153240.5(NPHP3):c.3913C>T (p.Arg1305Cys)
|
rs35485382
|
0.01709
|
NM_001134831.2(AHI1):c.3053A>C (p.Gln1018Pro)
|
rs6940875
|
0.01691
|
NM_017950.4(CCDC40):c.946G>A (p.Ala316Thr)
|
rs61998241
|
0.01690
|
NM_001377.3(DYNC2H1):c.645A>G (p.Leu215=)
|
rs116666272
|
0.01688
|
NM_001134831.2(AHI1):c.3015A>G (p.Ser1005=)
|
rs41287054
|
0.01682
|
NM_012210.4(TRIM32):c.*589G>A
|
rs16933835
|
0.01666
|
NM_012210.4(TRIM32):c.*845C>T
|
rs111309723
|
0.01665
|
NM_001369.3(DNAH5):c.2683G>A (p.Glu895Lys)
|
rs76229167
|
0.01663
|
NM_015102.5(NPHP4):c.3243G>C (p.Gly1081=)
|
rs41280800
|
0.01658
|
NM_198428.3(BBS9):c.1546C>A (p.Pro516Thr)
|
rs73688160
|
0.01649
|
NM_153717.3(EVC):c.*1849C>G
|
rs75438311
|
0.01645
|
NM_015102.5(NPHP4):c.1611+9C>T
|
rs114900019
|
0.01637
|
NM_001134831.2(AHI1):c.2624-6A>G
|
rs41288015
|
0.01635
|
NM_001384732.1(CPLANE1):c.5314A>G (p.Ser1772Gly)
|
rs79377186
|
0.01627
|
NM_001384732.1(CPLANE1):c.3795T>A (p.Val1265=)
|
rs74478954
|
0.01626
|
NM_017950.4(CCDC40):c.1131C>T (p.Cys377=)
|
rs74692882
|
0.01622
|
NM_017950.4(CCDC40):c.1466G>T (p.Ser489Ile)
|
rs61739354
|
0.01613
|
NM_025114.4(CEP290):c.829G>C (p.Glu277Gln)
|
rs45502896
|
0.01608
|
NM_024753.5(TTC21B):c.2334C>T (p.Tyr778=)
|
rs79656636
|
0.01606
|
NM_024649.5(BBS1):c.*1215T>C
|
rs115354748
|
0.01605
|
NM_153717.3(EVC):c.*615C>T
|
rs73079505
|
0.01604
|
NM_001377.3(DYNC2H1):c.*265C>T
|
rs78537620
|
0.01600
|
NM_153717.3(EVC):c.*1083T>G
|
rs71599850
|
0.01599
|
NM_001199397.3(NEK1):c.2764+12T>A
|
rs77658514
|
0.01594
|
NM_001010892.3(RSPH4A):c.731G>A (p.Arg244His)
|
rs41289942
|
0.01592
|
NM_198428.3(BBS9):c.*138A>C
|
rs59454255
|
0.01586
|
NM_001377.3(DYNC2H1):c.3660T>C (p.Pro1220=)
|
rs118191062
|
0.01583
|
NM_001369.3(DNAH5):c.6989-13T>C
|
rs112344370
|
0.01579
|
NM_012472.6(DNAAF11):c.609C>T (p.Asn203=)
|
rs35956157
|
0.01575
|
NM_001377.3(DYNC2H1):c.10461A>G (p.Gln3487=)
|
rs75143468
|
0.01568
|
NM_153717.3(EVC):c.*820C>T
|
rs137860758
|
0.01565
|
NM_001377.3(DYNC2H1):c.7122G>A (p.Leu2374=)
|
rs116574613
|
0.01532
|
NM_017950.4(CCDC40):c.1449C>T (p.Thr483=)
|
rs116824266
|
0.01523
|
NM_001082538.3(TCTN1):c.1396G>T (p.Gly466Cys)
|
rs118096349
|
0.01517
|
NM_001369.3(DNAH5):c.3301G>A (p.Val1101Met)
|
rs61747516
|
0.01505
|
NM_019892.6(INPP5E):c.1388-13C>T
|
rs78828148
|
0.01500
|
NM_153240.5(NPHP3):c.1986G>A (p.Arg662=)
|
rs77533254
|
0.01496
|
NM_001384732.1(CPLANE1):c.3240C>T (p.Ala1080=)
|
rs28514632
|
0.01487
|
NM_153717.3(EVC):c.*1123A>G
|
rs112378896
|
0.01481
|
NM_015681.6(B9D1):c.580T>C (p.Leu194=)
|
rs7212549
|
0.01478
|
NM_147127.5(EVC2):c.3040C>G (p.Leu1014Val)
|
rs75829835
|
0.01478
|
NM_001369.3(DNAH5):c.3241A>G (p.Met1081Val)
|
rs16902880
|
0.01472
|
NM_001369.3(DNAH5):c.3016A>G (p.Ser1006Gly)
|
rs16902886
|
0.01470
|
NM_001277115.2(DNAH11):c.8969G>A (p.Arg2990His)
|
rs72657371
|
0.01466
|
NM_001277115.2(DNAH11):c.9018G>A (p.Thr3006=)
|
rs72657372
|
0.01452
|
NM_001384732.1(CPLANE1):c.1125A>G (p.Pro375=)
|
rs61745362
|
0.01450
|
NM_018139.3(DNAAF2):c.707C>T (p.Pro236Leu)
|
rs74050429
|
0.01450
|
NM_001377.3(DYNC2H1):c.-94G>T
|
rs114993913
|
0.01448
|
NM_178452.6(DNAAF1):c.-128G>C
|
rs140245131
|
0.01445
|
NM_001384732.1(CPLANE1):c.1737G>A (p.Ala579=)
|
rs13356183
|
0.01427
|
NM_016464.4(TMEM138):c.-239C>T
|
rs146156958
|
0.01419
|
NM_153717.3(EVC):c.2279G>A (p.Arg760Gln)
|
rs2279252
|
0.01416
|
NM_031885.5(BBS2):c.1413A>C (p.Val471=)
|
rs35294865
|
0.01415
|
NM_024809.5(TCTN2):c.1612+12C>T
|
rs117614122
|
0.01410
|
NM_024753.5(TTC21B):c.1387C>T (p.Pro463Ser)
|
rs16851307
|
0.01408
|
NM_001369.3(DNAH5):c.*1389C>T
|
rs77701143
|
0.01404
|
NM_001377.3(DYNC2H1):c.1233A>G (p.Gln411=)
|
rs116888435
|
0.01403
|
NM_001044385.3(TMEM237):c.*3124A>T
|
rs79378497
|
0.01390
|
NM_001384732.1(CPLANE1):c.8664-3A>T
|
rs58401892
|
0.01389
|
NM_020779.4(WDR35):c.*1129C>T
|
rs76845713
|
0.01385
|
NM_020779.4(WDR35):c.*2315G>C
|
rs72779355
|
0.01383
|
NM_001277115.2(DNAH11):c.6547-5C>G
|
rs115200161
|
0.01380
|
NM_024753.5(TTC21B):c.2385G>C (p.Leu795=)
|
rs80225158
|
0.01377
|
NM_015272.5(RPGRIP1L):c.2959-15T>C
|
rs11863101
|
0.01368
|
NM_001278293.3(ARL6):c.480-8C>T
|
rs77010939
|
0.01364
|
NM_001278293.3(ARL6):c.*255C>T
|
rs79196822
|
0.01359
|
NM_001199397.3(NEK1):c.*154G>A
|
rs139328912
|
0.01356
|
NM_018718.3(CEP41):c.*3507C>T
|
rs149385617
|
0.01355
|
NM_198428.3(BBS9):c.34A>G (p.Thr12Ala)
|
rs4498440
|
0.01355
|
NM_019892.6(INPP5E):c.981C>T (p.Ala327=)
|
rs35498378
|
0.01340
|
NM_001377.3(DYNC2H1):c.10479C>G (p.Leu3493=)
|
rs151056947
|
0.01339
|
NM_001277115.2(DNAH11):c.6683+13C>G
|
rs17145077
|
0.01337
|
NM_001134831.2(AHI1):c.1152-11T>G
|
rs113317693
|
0.01324
|
NM_020779.4(WDR35):c.*553G>T
|
rs79153401
|
0.01323
|
NM_001369.3(DNAH5):c.5658C>T (p.Tyr1886=)
|
rs6880264
|
0.01314
|
NM_024753.5(TTC21B):c.665A>T (p.Gln222Leu)
|
rs80026831
|
0.01296
|
NM_017777.4(MKS1):c.1273+11G>A
|
rs16942826
|
0.01295
|
NM_024753.5(TTC21B):c.838A>G (p.Met280Val)
|
rs112868646
|
0.01295
|
NM_001384732.1(CPLANE1):c.4310T>C (p.Ile1437Thr)
|
rs6859950
|
0.01291
|
NM_018718.3(CEP41):c.*3765G>T
|
rs138768326
|
0.01276
|
NM_000549.5(TSHB):c.-13A>G
|
rs77331078
|
0.01269
|
NM_014714.4(IFT140):c.2330T>G (p.Leu777Arg)
|
rs34535263
|
0.01269
|
NM_198428.3(BBS9):c.1849A>C (p.Ile617Leu)
|
rs34209904
|
0.01256
|
NM_001277115.2(DNAH11):c.9102+8G>A
|
rs72657374
|
0.01255
|
NM_018139.3(DNAAF2):c.78C>T (p.Ala26=)
|
rs7156297
|
0.01255
|
NM_019892.6(INPP5E):c.636C>A (p.Val212=)
|
rs34071122
|
0.01252
|
NM_024685.4(BBS10):c.*1248A>G
|
rs115516881
|
0.01249
|
NM_153704.6(TMEM67):c.2397T>C (p.Asp799=)
|
rs117195541
|
0.01237
|
NM_023036.6(DNAI2):c.1131G>A (p.Pro377=)
|
rs59499600
|
0.01236
|
NM_015102.5(NPHP4):c.2808G>A (p.Thr936=)
|
rs17028857
|
0.01235
|
NM_001278293.3(ARL6):c.-240C>T
|
rs116162146
|
0.01233
|
NM_017777.4(MKS1):c.-18C>G
|
rs116514023
|
0.01231
|
NM_001044385.3(TMEM237):c.-12G>A
|
rs113186360
|
0.01229
|
NM_015910.7(WDPCP):c.*604_*605del
|
rs886056219
|
0.01222
|
NM_024809.5(TCTN2):c.*67C>T
|
rs112214860
|
0.01216
|
NM_147127.5(EVC2):c.1384A>G (p.Thr462Ala)
|
rs73063795
|
0.01215
|
NM_001277115.2(DNAH11):c.12561T>G (p.Asp4187Glu)
|
rs148429731
|
0.01214
|
NM_020779.4(WDR35):c.1601G>A (p.Arg534Gln)
|
rs113345685
|
0.01206
|
NM_001377.3(DYNC2H1):c.195+7T>C
|
rs112718117
|
0.01205
|
NM_170784.3(MKKS):c.1462G>A (p.Ala488Thr)
|
rs61734546
|
0.01201
|
NM_178452.6(DNAAF1):c.780G>C (p.Gln260His)
|
rs112051327
|
0.01197
|
NM_001377.3(DYNC2H1):c.2860G>A (p.Glu954Lys)
|
rs61898615
|
0.01194
|
NM_198525.3(KIF7):c.2481C>T (p.Asn827=)
|
rs35837280
|
0.01186
|
NM_153717.3(EVC):c.*1700C>T
|
rs74690944
|
0.01179
|
NM_015102.5(NPHP4):c.*128A>C
|
rs116747881
|
0.01171
|
NM_198525.3(KIF7):c.1895C>T (p.Pro632Leu)
|
rs115857753
|
0.01168
|
NM_001023570.4(IQCB1):c.1303C>T (p.Arg435Cys)
|
rs11920543
|
0.01165
|
NM_033028.5(BBS4):c.*1G>C
|
rs113678046
|
0.01165
|
NM_153717.3(EVC):c.1464+8A>G
|
rs116236414
|
0.01163
|
NM_153717.3(EVC):c.2373G>A (p.Gln791=)
|
rs73795089
|
0.01161
|
NM_153717.3(EVC):c.2363G>A (p.Arg788His)
|
rs73795088
|
0.01159
|
NM_001277115.2(DNAH11):c.8990G>A (p.Arg2997Gln)
|
rs35865357
|
0.01156
|
NM_001010892.3(RSPH4A):c.1489G>A (p.Val497Ile)
|
rs117169123
|
0.01149
|
NM_015102.5(NPHP4):c.3479C>T (p.Pro1160Leu)
|
rs113445782
|
0.01143
|
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_014714.4(IFT140):c.3990G>A (p.Ala1330=)
|
rs61745103
|
0.01137
|
NM_019892.6(INPP5E):c.531C>A (p.Ala177=)
|
rs58206296
|
0.01135
|
NM_023036.6(DNAI2):c.55+6G>A
|
rs118104009
|
0.01132
|
NM_020779.4(WDR35):c.3019C>T (p.Arg1007Cys)
|
rs56395266
|
0.01130
|
NM_153240.5(NPHP3):c.57G>C (p.Thr19=)
|
rs192633696
|
0.01128
|
NM_001377.3(DYNC2H1):c.12865G>C (p.Gly4289Arg)
|
rs144717489
|
0.01113
|
NM_144596.4(TTC8):c.*57C>T
|
rs74079414
|
0.01106
|
NM_001377.3(DYNC2H1):c.6478-6C>T
|
rs114254215
|
0.01103
|
NM_153704.6(TMEM67):c.*852C>T
|
rs114214029
|
0.01103
|
NM_015102.5(NPHP4):c.2031C>T (p.Pro677=)
|
rs34373111
|
0.01102
|
NM_181426.2(CCDC39):c.604G>A (p.Ala202Thr)
|
rs61733578
|
0.01102
|
NM_015102.5(NPHP4):c.2876G>A (p.Arg959Gln)
|
rs12084067
|
0.01099
|
NM_001199397.3(NEK1):c.-488C>T
|
rs62334514
|
0.01094
|
NM_178452.6(DNAAF1):c.1769C>T (p.Thr590Met)
|
rs34777958
|
0.01090
|
NM_001378454.1(ALMS1):c.*154G>C
|
rs77779454
|
0.01084
|
NM_001134831.2(AHI1):c.804A>C (p.Ser268=)
|
rs35528530
|
0.01078
|
NM_015681.6(B9D1):c.181C>T (p.Arg61Trp)
|
rs73980038
|
0.01073
|
NM_024753.5(TTC21B):c.2742C>T (p.Cys914=)
|
rs73018799
|
0.01072
|
NM_001134831.2(AHI1):c.1643G>A (p.Arg548His)
|
rs35433555
|
0.01070
|
NM_012144.4(DNAI1):c.978A>C (p.Gln326His)
|
rs16931555
|
0.01063
|
NM_018139.3(DNAAF2):c.144C>A (p.Asn48Lys)
|
rs116185352
|
0.01062
|
NM_001278293.3(ARL6):c.*284C>A
|
rs148380165
|
0.01054
|
NM_024809.5(TCTN2):c.*45G>A
|
rs142969969
|
0.01053
|
NM_153240.5(NPHP3):c.154G>A (p.Ala52Thr)
|
rs145643112
|
0.01037
|
NM_024809.5(TCTN2):c.898C>T (p.Leu300=)
|
rs77804131
|
0.01030
|
NM_024809.5(TCTN2):c.2041T>C (p.Leu681=)
|
rs112158562
|
0.01028
|
NM_181426.2(CCDC39):c.2278A>G (p.Thr760Ala)
|
rs79386936
|
0.01017
|
NM_018718.3(CEP41):c.*3783T>C
|
rs117071818
|
0.01015
|
NM_023036.6(DNAI2):c.590A>T (p.Asp197Val)
|
rs35636875
|
0.01015
|
NM_001369.3(DNAH5):c.*1591T>A
|
rs115520709
|
0.01013
|
NM_144596.4(TTC8):c.*493T>C
|
rs60082659
|
0.01012
|
NM_001369.3(DNAH5):c.3987A>G (p.Lys1329=)
|
rs146191243
|
0.01011
|
NM_015102.5(NPHP4):c.1852G>A (p.Glu618Lys)
|
rs571655
|
0.01009
|
NM_024753.5(TTC21B):c.*974C>G
|
rs145794135
|
0.01001
|
NM_024685.4(BBS10):c.*87A>C
|
rs138936387
|
0.00985
|
NM_017950.4(CCDC40):c.2784C>T (p.Ile928=)
|
rs118143944
|
0.00983
|
NM_015102.5(NPHP4):c.3876C>T (p.Gly1292=)
|
rs115526767
|
0.00982
|
NM_198428.3(BBS9):c.1646C>T (p.Thr549Ile)
|
rs59252892
|
0.00979
|
NM_024809.5(TCTN2):c.599G>A (p.Arg200Gln)
|
rs79251326
|
0.00978
|
NM_153717.3(EVC):c.2872G>A (p.Asp958Asn)
|
rs35287723
|
0.00977
|
NM_153717.3(EVC):c.2505G>A (p.Ser835=)
|
rs115976359
|
0.00969
|
NM_017950.4(CCDC40):c.2682G>A (p.Ala894=)
|
rs4889815
|
0.00968
|
NM_001369.3(DNAH5):c.6061+10A>G
|
rs77957856
|
0.00962
|
NM_001369.3(DNAH5):c.6703T>G (p.Leu2235Val)
|
rs115109673
|
0.00961
|
NM_001023570.4(IQCB1):c.-178C>T
|
rs191557781
|
0.00949
|
NM_147127.5(EVC2):c.-19T>C
|
rs188508515
|
0.00949
|
NM_017950.4(CCDC40):c.1123A>C (p.Lys375Gln)
|
rs61734951
|
0.00943
|
NM_170784.3(MKKS):c.-58T>C
|
rs114068950
|
0.00943
|
NM_016464.5(TMEM138):c.-24G>A
|
rs116455434
|
0.00930
|
NM_012224.2(NEK1):c.-640T>G
|
rs549272215
|
0.00924
|
NM_025132.4(WDR19):c.1607G>C (p.Ser536Thr)
|
rs115348383
|
0.00917
|
NM_153240.5(NPHP3):c.450G>A (p.Ala150=)
|
rs78527322
|
0.00906
|
NM_015910.7(WDPCP):c.2063A>G (p.Asn688Ser)
|
rs61734468
|
0.00905
|
NM_023036.6(DNAI2):c.234G>A (p.Glu78=)
|
rs35985071
|
0.00904
|
NM_147127.5(EVC2):c.1311A>G (p.Leu437=)
|
rs77131452
|
0.00904
|
NM_198525.3(KIF7):c.2271C>T (p.Ala757=)
|
rs35451920
|
0.00897
|
NM_001277115.2(DNAH11):c.4455A>G (p.Leu1485=)
|
rs79119693
|
0.00895
|
NM_001369.3(DNAH5):c.4836G>A (p.Val1612=)
|
rs34671383
|
0.00895
|
NM_025114.4(CEP290):c.-33G>T
|
rs139415563
|
0.00894
|
NM_198525.3(KIF7):c.1189G>A (p.Ala397Thr)
|
rs535621809
|
0.00887
|
NM_025132.4(WDR19):c.2096G>A (p.Arg699Gln)
|
rs138529452
|
0.00883
|
NM_001277115.2(DNAH11):c.576A>G (p.Ile192Met)
|
rs72655972
|
0.00876
|
NM_001010892.3(RSPH4A):c.1798+11G>A
|
rs41290844
|
0.00873
|
NM_198428.3(BBS9):c.1562G>A (p.Arg521Gln)
|
rs34218557
|
0.00872
|
NM_198428.3(BBS9):c.555C>T (p.Ala185=)
|
rs35440033
|
0.00871
|
NM_147127.5(EVC2):c.692A>G (p.Lys231Arg)
|
rs114024753
|
0.00863
|
NM_152618.3(BBS12):c.714T>G (p.Asn238Lys)
|
rs17006082
|
0.00860
|
NM_001044385.3(TMEM237):c.*1489G>C
|
rs78220061
|
0.00855
|
NM_015272.5(RPGRIP1L):c.3548C>G (p.Ala1183Gly)
|
rs139974543
|
0.00854
|
NM_033028.5(BBS4):c.180A>G (p.Gln60=)
|
rs114434361
|
0.00852
|
NM_147127.5(EVC2):c.3138C>G (p.Ser1046Arg)
|
rs73074138
|
0.00851
|
NM_025132.4(WDR19):c.1581C>A (p.Thr527=)
|
rs114689848
|
0.00847
|
NM_176824.3(BBS7):c.*1202G>A
|
rs3217756
|
0.00843
|
NM_001369.3(DNAH5):c.*1502C>T
|
rs144265705
|
0.00842
|
NM_001277115.2(DNAH11):c.-27C>A
|
rs72655966
|
0.00836
|
NM_001369.3(DNAH5):c.1647C>G (p.Asn549Lys)
|
rs139160176
|
0.00831
|
NM_017950.4(CCDC40):c.3340G>A (p.Val1114Met)
|
rs61740509
|
0.00831
|
NM_198525.3(KIF7):c.3012C>T (p.Arg1004=)
|
rs61741227
|
0.00828
|
NM_012472.6(DNAAF11):c.1162G>A (p.Gly388Ser)
|
rs77289466
|
0.00827
|
NM_020779.4(WDR35):c.1089G>A (p.Thr363=)
|
rs79829477
|
0.00817
|
NM_025114.4(CEP290):c.3465G>A (p.Leu1155=)
|
rs150138016
|
0.00815
|
NM_031885.5(BBS2):c.*316A>G
|
rs17341965
|
0.00814
|
NM_001369.3(DNAH5):c.5224T>C (p.Leu1742=)
|
rs35963491
|
0.00809
|
NM_001369.3(DNAH5):c.6919G>A (p.Val2307Ile)
|
rs74604638
|
0.00808
|
NM_198525.3(KIF7):c.-52G>T
|
rs116805116
|
0.00808
|
NM_144596.4(TTC8):c.625-5C>T
|
rs137853922
|
0.00807
|
NM_012472.6(DNAAF11):c.*239T>C
|
rs116329113
|
0.00799
|
NM_001369.3(DNAH5):c.6579+6A>G
|
rs141389162
|
0.00798
|
NM_024753.5(TTC21B):c.1965G>A (p.Arg655=)
|
rs16822802
|
0.00798
|
NM_018139.3(DNAAF2):c.1367C>T (p.Pro456Leu)
|
rs137991407
|
0.00785
|
NM_147127.5(EVC2):c.*394A>G
|
rs138063943
|
0.00784
|
NM_017950.4(CCDC40):c.2608C>T (p.Arg870Cys)
|
rs61749025
|
0.00769
|
NM_198428.3(BBS9):c.*371G>A
|
rs79271934
|
0.00768
|
NM_198428.3(BBS9):c.2220G>A (p.Leu740=)
|
rs115809567
|
0.00765
|
NM_001044385.3(TMEM237):c.75-13T>C
|
rs116829037
|
0.00764
|
NM_018718.3(CEP41):c.718T>G (p.Cys240Gly)
|
rs113941736
|
0.00760
|
NM_020800.3(IFT80):c.1076C>T (p.Ser359Phe)
|
rs144099135
|
0.00760
|
NM_001277115.2(DNAH11):c.5359T>C (p.Leu1787=)
|
rs75932225
|
0.00755
|
NM_153717.3(EVC):c.*922G>A
|
rs71599840
|
0.00749
|
NM_181426.2(CCDC39):c.*325C>T
|
rs73883902
|
0.00748
|
NM_153240.5(NPHP3):c.3550G>A (p.Ala1184Thr)
|
rs34391943
|
0.00744
|
NM_025114.4(CEP290):c.5199A>G (p.Gln1733=)
|
rs79644671
|
0.00740
|
NM_024685.4(BBS10):c.424G>A (p.Asp142Asn)
|
rs142863601
|
0.00738
|
NM_153717.3(EVC):c.1320T>A (p.Phe440Leu)
|
rs60582583
|
0.00733
|
NM_001378615.1(CC2D2A):c.721G>A (p.Glu241Lys)
|
rs62000428
|
0.00732
|
NM_198525.3(KIF7):c.3999G>C (p.Pro1333=)
|
rs137993810
|
0.00730
|
NM_001369.3(DNAH5):c.*775G>A
|
rs146040448
|
0.00728
|
NM_001082538.3(TCTN1):c.1234A>G (p.Ile412Val)
|
rs75714509
|
0.00723
|
NM_001082538.3(TCTN1):c.220+12G>C
|
rs76843552
|
0.00719
|
NM_001384732.1(CPLANE1):c.8344C>A (p.Pro2782Thr)
|
rs77014998
|
0.00719
|
NM_001369.3(DNAH5):c.12923A>G (p.Tyr4308Cys)
|
rs115075057
|
0.00713
|
NM_198428.3(BBS9):c.1694-6T>C
|
rs28622379
|
0.00710
|
NM_014714.4(IFT140):c.*63A>G
|
rs149678731
|
0.00706
|
NM_025114.4(CEP290):c.1624-5T>C
|
rs142742071
|
0.00704
|
NM_001369.3(DNAH5):c.13467G>A (p.Gln4489=)
|
rs140498500
|
0.00702
|
NM_015272.5(RPGRIP1L):c.3372C>T (p.Ser1124=)
|
rs146902870
|
0.00702
|
NM_014714.4(IFT140):c.322G>A (p.Val108Met)
|
rs146128830
|
0.00695
|
NM_001377.3(DYNC2H1):c.12254G>A (p.Arg4085His)
|
rs115480556
|
0.00689
|
NM_018718.3(CEP41):c.*1512C>T
|
rs73721889
|
0.00689
|
NM_033028.5(BBS4):c.137A>G (p.Lys46Arg)
|
rs75295839
|
0.00687
|
NM_001010892.3(RSPH4A):c.*250G>T
|
rs58311062
|
0.00681
|
NM_001010892.3(RSPH4A):c.1731A>G (p.Lys577=)
|
rs73765819
|
0.00679
|
NM_025114.4(CEP290):c.2827A>G (p.Ile943Val)
|
rs75220808
|
0.00678
|
NM_015102.5(NPHP4):c.1542G>A (p.Pro514=)
|
rs35264155
|
0.00677
|
NM_153717.3(EVC):c.780G>A (p.Lys260=)
|
rs41269555
|
0.00676
|
NM_147127.5(EVC2):c.1198A>G (p.Thr400Ala)
|
rs138972736
|
0.00672
|
NM_153240.5(NPHP3):c.3941G>C (p.Ser1314Thr)
|
rs75316802
|
0.00658
|
NM_001378615.1(CC2D2A):c.3509G>A (p.Arg1170Lys)
|
rs61734948
|
0.00656
|
NM_152732.5(RSPH9):c.263C>T (p.Ala88Val)
|
rs35110984
|
0.00656
|
NM_153240.5(NPHP3):c.1887+6G>A
|
rs79113972
|
0.00654
|
NM_001277115.2(DNAH11):c.7332G>A (p.Pro2444=)
|
rs28370951
|
0.00650
|
NM_147127.5(EVC2):c.2707-5T>C
|
rs186058156
|
0.00650
|
NM_017950.4(CCDC40):c.1303G>A (p.Glu435Lys)
|
rs62000409
|
0.00649
|
NM_178452.6(DNAAF1):c.2134C>G (p.Pro712Ala)
|
rs4150187
|
0.00649
|
NM_001384732.1(CPLANE1):c.6957A>G (p.Gln2319=)
|
rs143147192
|
0.00645
|
NM_018139.3(DNAAF2):c.1626G>C (p.Arg542=)
|
rs35763780
|
0.00645
|
NM_001378615.1(CC2D2A):c.1519A>G (p.Lys507Glu)
|
rs144439937
|
0.00644
|
NM_018139.3(DNAAF2):c.728A>C (p.Glu243Ala)
|
rs112044935
|
0.00642
|
NM_178452.6(DNAAF1):c.736G>A (p.Asp246Asn)
|
rs151099638
|
0.00642
|
NM_001384732.1(CPLANE1):c.*396T>C
|
rs115541718
|
0.00638
|
NM_001378615.1(CC2D2A):c.-18-2673G>A
|
rs183968785
|
0.00636
|
NM_001384732.1(CPLANE1):c.4134T>C (p.Pro1378=)
|
rs79935028
|
0.00635
|
NM_001243156.2(TAF1C):c.*1033A>G
|
rs4150186
|
0.00632
|
NM_153240.5(NPHP3):c.*759G>A
|
rs116338839
|
0.00632
|
NM_153240.5(NPHP3):c.3252A>G (p.Thr1084=)
|
rs11915053
|
0.00629
|
NM_001277115.2(DNAH11):c.6117G>A (p.Ala2039=)
|
rs78763603
|
0.00628
|
NM_001377.3(DYNC2H1):c.10834G>C (p.Asp3612His)
|
rs116872934
|
0.00628
|
NM_181426.2(CCDC39):c.*134A>T
|
rs190913291
|
0.00626
|
NM_153240.5(NPHP3):c.*815G>A
|
rs141464909
|
0.00625
|
NM_014714.4(IFT140):c.2569G>A (p.Gly857Ser)
|
rs200876696
|
0.00622
|
NM_024685.4(BBS10):c.1631A>G (p.Asn544Ser)
|
rs34737974
|
0.00618
|
NM_024753.5(TTC21B):c.1870A>G (p.Ile624Val)
|
rs77106136
|
0.00617
|
NM_181426.2(CCDC39):c.2669+6C>T
|
rs57859179
|
0.00616
|
NM_001173990.3(TMEM216):c.*21A>G
|
rs111371929
|
0.00615
|
NM_001277115.2(DNAH11):c.4598T>G (p.Ile1533Ser)
|
rs73682656
|
0.00615
|
NM_014714.4(IFT140):c.2550C>T (p.Ala850=)
|
rs2745180
|
0.00615
|
NM_020779.4(WDR35):c.*1406A>G
|
rs10197681
|
0.00613
|
NM_001377.3(DYNC2H1):c.12007G>A (p.Ala4003Thr)
|
rs61737514
|
0.00612
|
NM_012144.4(DNAI1):c.179C>T (p.Ala60Val)
|
rs16931549
|
0.00609
|
NM_024649.5(BBS1):c.*187C>T
|
rs148117167
|
0.00609
|
NM_001277115.2(DNAH11):c.1426-9T>C
|
rs72655983
|
0.00607
|
NM_031885.5(BBS2):c.*13C>T
|
rs141170836
|
0.00607
|
NM_001377.3(DYNC2H1):c.11703C>T (p.Asn3901=)
|
rs144624858
|
0.00606
|
NM_001277115.2(DNAH11):c.3105G>A (p.Glu1035=)
|
rs191011620
|
0.00599
|
NM_001377.3(DYNC2H1):c.10966A>G (p.Met3656Val)
|
rs151156076
|
0.00599
|
NM_015102.5(NPHP4):c.1442-7C>T
|
rs146078470
|
0.00599
|
NM_198428.3(BBS9):c.1280C>T (p.Ala427Val)
|
rs138072724
|
0.00599
|
NM_001277115.2(DNAH11):c.640A>G (p.Ile214Val)
|
rs117064287
|
0.00595
|
NM_198428.3(BBS9):c.-305T>G
|
rs112060099
|
0.00592
|
NM_001384732.1(CPLANE1):c.8286C>T (p.Asp2762=)
|
rs114126795
|
0.00589
|
NM_176824.3(BBS7):c.1505A>G (p.His502Arg)
|
rs114718913
|
0.00589
|
NM_019892.6(INPP5E):c.-239C>G
|
rs562519905
|
0.00588
|
NM_033028.5(BBS4):c.*611C>T
|
rs41277724
|
0.00586
|
NM_025114.4(CEP290):c.1558T>C (p.Phe520Leu)
|
rs147371999
|
0.00585
|
NM_023036.6(DNAI2):c.1431C>G (p.Thr477=)
|
rs144035254
|
0.00581
|
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln)
|
rs61941020
|
0.00577
|
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr)
|
rs138036823
|
0.00577
|
NM_015102.5(NPHP4):c.3674C>T (p.Thr1225Met)
|
rs144624477
|
0.00576
|
NM_012144.4(DNAI1):c.1604C>A (p.Thr535Asn)
|
rs76334696
|
0.00575
|
NM_024753.5(TTC21B):c.2322+3A>G
|
rs79037278
|
0.00575
|
NM_015910.7(WDPCP):c.1333G>C (p.Ala445Pro)
|
rs61734466
|
0.00572
|
NM_181426.2(CCDC39):c.*545C>A
|
rs555590913
|
0.00572
|
NM_017777.4(MKS1):c.*322G>T
|
rs185405908
|
0.00571
|
NM_147127.5(EVC2):c.1730T>C (p.Met577Thr)
|
rs113869406
|
0.00570
|
NM_015272.5(RPGRIP1L):c.*491C>G
|
rs35669682
|
0.00564
|
NM_001369.3(DNAH5):c.1858C>A (p.Gln620Lys)
|
rs34076967
|
0.00563
|
NM_001377.3(DYNC2H1):c.11726-10A>T
|
rs185916947
|
0.00561
|
NM_153717.3(EVC):c.284A>G (p.Asp95Gly)
|
rs41269547
|
0.00561
|
NM_001199397.3(NEK1):c.3624T>C (p.Asp1208=)
|
rs55740606
|
0.00560
|
NM_024685.4(BBS10):c.966T>C (p.Tyr322=)
|
rs139053702
|
0.00560
|
NM_001377.3(DYNC2H1):c.11238C>T (p.Ser3746=)
|
rs78599571
|
0.00555
|
NM_014714.4(IFT140):c.1524+3A>G
|
rs149791451
|
0.00552
|
NM_198525.3(KIF7):c.1266C>G (p.Leu422=)
|
rs8030837
|
0.00552
|
NM_001369.3(DNAH5):c.5115-4G>T
|
rs141141086
|
0.00551
|
NM_176824.3(BBS7):c.1512-7A>T
|
rs115987385
|
0.00545
|
NM_014714.4(IFT140):c.4040+10C>T
|
rs138364426
|
0.00542
|
NM_198428.3(BBS9):c.1110C>T (p.Asn370=)
|
rs61753524
|
0.00539
|
NM_001134831.2(AHI1):c.3579T>C (p.Thr1193=)
|
rs115338154
|
0.00537
|
NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val)
|
rs146496725
|
0.00537
|
NM_001369.3(DNAH5):c.*1156C>T
|
rs115907706
|
0.00534
|
NM_198525.3(KIF7):c.1885G>A (p.Glu629Lys)
|
rs149814240
|
0.00533
|
NM_014714.4(IFT140):c.4040+11G>A
|
rs144624901
|
0.00530
|
NM_020779.4(WDR35):c.*531T>A
|
rs187092318
|
0.00530
|
NM_023036.6(DNAI2):c.1462C>T (p.Leu488Phe)
|
rs61736879
|
0.00529
|
NM_001369.3(DNAH5):c.9150C>T (p.Ser3050=)
|
rs77477793
|
0.00527
|
NM_001384732.1(CPLANE1):c.5329G>A (p.Val1777Ile)
|
rs142777778
|
0.00526
|
NM_012210.4(TRIM32):c.*692C>G
|
rs116058338
|
0.00526
|
NM_181426.2(CCDC39):c.*800G>A
|
rs114500310
|
0.00525
|
NM_015272.5(RPGRIP1L):c.2925A>G (p.Val975=)
|
rs144313291
|
0.00524
|
NM_153717.3(EVC):c.*2132A>G
|
rs11939264
|
0.00524
|
NM_001277115.2(DNAH11):c.939C>T (p.Ser313=)
|
rs72655977
|
0.00522
|
NM_015272.5(RPGRIP1L):c.*1627G>A
|
rs188203905
|
0.00522
|
NM_147127.5(EVC2):c.814C>T (p.Arg272Trp)
|
rs114142742
|
0.00521
|
NM_015272.5(RPGRIP1L):c.1165A>G (p.Ile389Val)
|
rs79708859
|
0.00517
|
NM_147127.5(EVC2):c.2863C>T (p.Arg955Trp)
|
rs116502852
|
0.00513
|
NM_213607.3(CCDC103):c.*307C>A
|
rs188688493
|
0.00513
|
NM_147127.5(EVC2):c.1845C>T (p.Thr615=)
|
rs112747818
|
0.00512
|
NM_152618.3(BBS12):c.1103G>A (p.Arg368His)
|
rs78457123
|
0.00511
|
NM_170784.3(MKKS):c.16G>A (p.Ala6Thr)
|
rs150920905
|
0.00508
|
NM_001044385.3(TMEM237):c.80-11T>C
|
rs76296365
|
0.00503
|
NM_001134831.2(AHI1):c.3368C>T (p.Ser1123Phe)
|
rs117447608
|
0.00497
|
NM_001384732.1(CPLANE1):c.5421G>A (p.Lys1807=)
|
rs149313666
|
0.00495
|
NM_015681.6(B9D1):c.-110G>A
|
rs117169107
|
0.00495
|
NM_001277115.2(DNAH11):c.1535T>A (p.Met512Lys)
|
rs72655984
|
0.00494
|
NM_001277115.2(DNAH11):c.1885C>T (p.Pro629Ser)
|
rs150966144
|
0.00490
|
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr)
|
rs117852025
|
0.00488
|
NM_181426.2(CCDC39):c.2432G>A (p.Arg811His)
|
rs61733583
|
0.00485
|
NM_001044385.3(TMEM237):c.*962A>C
|
rs142403941
|
0.00484
|
NM_001044385.3(TMEM237):c.*969A>G
|
rs137925244
|
0.00484
|
NM_017950.4(CCDC40):c.630C>T (p.Ser210=)
|
rs117419007
|
0.00481
|
NM_001384732.1(CPLANE1):c.4698A>G (p.Leu1566=)
|
rs143312971
|
0.00478
|
NM_015102.5(NPHP4):c.3894C>T (p.Ala1298=)
|
rs60094861
|
0.00477
|
NM_017777.4(MKS1):c.1436G>A (p.Arg479His)
|
rs111315726
|
0.00476
|
NM_001082538.3(TCTN1):c.-46G>C
|
rs538932401
|
0.00473
|
NM_018139.3(DNAAF2):c.1494G>A (p.Ser498=)
|
rs2985688
|
0.00470
|
NM_001277115.2(DNAH11):c.6468+14T>C
|
rs114409690
|
0.00469
|
NM_001010892.3(RSPH4A):c.*491T>C
|
rs116191088
|
0.00466
|
NM_001134831.2(AHI1):c.2798A>G (p.Tyr933Cys)
|
rs41288013
|
0.00466
|
NM_019892.6(INPP5E):c.-31G>C
|
rs554931078
|
0.00466
|
NM_198525.3(KIF7):c.294A>G (p.Ser98=)
|
rs145049849
|
0.00465
|
NM_025114.4(CEP290):c.5506A>G (p.Ile1836Val)
|
rs11104729
|
0.00463
|
NM_147127.5(EVC2):c.675A>G (p.Gly225=)
|
rs74930168
|
0.00463
|
NM_001277115.2(DNAH11):c.4501-7A>T
|
rs62447794
|
0.00461
|
NM_001277115.2(DNAH11):c.2275-15G>T
|
rs60290948
|
0.00458
|
NM_023036.6(DNAI2):c.747C>T (p.Gly249=)
|
rs148488355
|
0.00458
|
NM_018718.3(CEP41):c.208-5A>G
|
rs11765434
|
0.00453
|
NM_153717.3(EVC):c.469C>G (p.Pro157Ala)
|
rs146729456
|
0.00451
|
NM_001258400.2(FAM187A):c.-328C>T
|
rs539555310
|
0.00449
|
NM_001277115.2(DNAH11):c.9435G>A (p.Thr3145=)
|
rs72657379
|
0.00449
|
NM_001277115.2(DNAH11):c.4726-15T>C
|
rs17144822
|
0.00445
|
NM_153717.3(EVC):c.*2126T>G
|
rs191415414
|
0.00444
|
NM_015102.5(NPHP4):c.1705C>G (p.Gln569Glu)
|
rs113413307
|
0.00443
|
NM_001369.3(DNAH5):c.*84C>T
|
rs151143347
|
0.00442
|
NM_002055.5(GFAP):c.*1074C>T
|
rs117405516
|
0.00442
|
NM_152618.3(BBS12):c.355G>A (p.Gly119Ser)
|
rs77731085
|
0.00439
|
NM_153704.6(TMEM67):c.2952A>G (p.Ala984=)
|
rs115967793
|
0.00439
|
NM_178452.5(DNAAF1):c.-172G>A
|
rs558403928
|
0.00439
|
NM_015910.7(WDPCP):c.-188G>C
|
rs187916591
|
0.00436
|
NM_152618.3(BBS12):c.1451G>A (p.Arg484Lys)
|
rs35690634
|
0.00435
|
NM_181426.2(CCDC39):c.233G>A (p.Arg78His)
|
rs115952495
|
0.00435
|
NM_001369.3(DNAH5):c.6062-4G>A
|
rs143392650
|
0.00433
|
NM_178452.6(DNAAF1):c.1616T>C (p.Leu539Pro)
|
rs141149453
|
0.00430
|
NM_001134831.2(AHI1):c.2972G>A (p.Arg991His)
|
rs35851478
|
0.00429
|
NM_001277115.2(DNAH11):c.9097A>G (p.Ile3033Val)
|
rs72657373
|
0.00428
|
NM_018718.2(CEP41):c.-243G>A
|
rs542293061
|
0.00425
|
NM_024753.5(TTC21B):c.*1225C>T
|
rs60399987
|
0.00424
|
NM_153717.3(EVC):c.*2708G>A
|
rs79112570
|
0.00424
|
NM_033028.5(BBS4):c.*43G>T
|
rs144706746
|
0.00421
|
NM_001044385.3(TMEM237):c.*3453T>G
|
rs77771615
|
0.00420
|
NM_015102.5(NPHP4):c.2293G>A (p.Val765Ile)
|
rs149244006
|
0.00420
|
NM_020800.3(IFT80):c.371-10C>A
|
rs188321058
|
0.00420
|
NM_001277115.2(DNAH11):c.8478C>T (p.His2826=)
|
rs62445328
|
0.00419
|
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_001384732.1(CPLANE1):c.*807A>G
|
rs78011227
|
0.00418
|
NM_012144.4(DNAI1):c.-116T>C
|
rs62619982
|
0.00418
|
NM_015102.5(NPHP4):c.2681A>G (p.His894Arg)
|
rs113097479
|
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_001199397.3(NEK1):c.2235T>G (p.Asn745Lys)
|
rs34324114
|
0.00417
|
NM_001044385.3(TMEM237):c.*2180G>A
|
rs77649251
|
0.00416
|
NM_147127.5(EVC2):c.307T>C (p.Leu103=)
|
rs140877783
|
0.00416
|
NM_019892.6(INPP5E):c.791G>A (p.Arg264His)
|
rs202197173
|
0.00415
|
NM_001369.3(DNAH5):c.2253C>A (p.Asn751Lys)
|
rs115004914
|
0.00414
|
NM_017950.4(CCDC40):c.631G>A (p.Asp211Asn)
|
rs150615436
|
0.00414
|
NM_018139.3(DNAAF2):c.1406G>A (p.Cys469Tyr)
|
rs150737854
|
0.00410
|
NM_147127.5(EVC2):c.1364C>G (p.Thr455Arg)
|
rs141287105
|
0.00406
|
NM_019892.6(INPP5E):c.1730C>G (p.Pro577Arg)
|
rs147967974
|
0.00405
|
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln)
|
rs188164241
|
0.00405
|
NM_153240.5(NPHP3):c.2089-9C>T
|
rs141397228
|
0.00404
|
NM_001277115.2(DNAH11):c.2380G>A (p.Glu794Lys)
|
rs78653098
|
0.00401
|
NM_015102.5(NPHP4):c.279+11G>A
|
rs113902159
|
0.00401
|
NM_001277115.2(DNAH11):c.13050-15C>T
|
rs149634292
|
0.00399
|
NM_015910.7(WDPCP):c.68C>A (p.Pro23Gln)
|
rs141340867
|
0.00398
|
NM_001044385.3(TMEM237):c.*1588G>A
|
rs150141936
|
0.00396
|
NM_017950.4(CCDC40):c.2336G>A (p.Arg779His)
|
rs183809462
|
0.00395
|
NM_153717.3(EVC):c.*1136T>C
|
rs71599852
|
0.00394
|
NM_023036.6(DNAI2):c.124G>A (p.Val42Met)
|
rs151176313
|
0.00389
|
NM_001369.3(DNAH5):c.5281C>G (p.Arg1761Gly)
|
rs148891849
|
0.00388
|
NM_147127.5(EVC2):c.3561A>G (p.Lys1187=)
|
rs76523157
|
0.00388
|
NM_001134831.2(AHI1):c.2505G>A (p.Arg835=)
|
rs41288017
|
0.00383
|
NM_023036.6(DNAI2):c.949G>A (p.Ala317Thr)
|
rs145798624
|
0.00383
|
NM_001044385.3(TMEM237):c.*2431T>G
|
rs142355657
|
0.00379
|
NM_020800.3(IFT80):c.*1089T>C
|
rs181651029
|
0.00377
|
NM_020800.3(IFT80):c.*1204G>A
|
rs144132950
|
0.00376
|
NM_024753.5(TTC21B):c.*656G>A
|
rs180737925
|
0.00376
|
NM_024809.5(TCTN2):c.810C>T (p.Asp270=)
|
rs144567556
|
0.00376
|
NM_198428.3(BBS9):c.1246G>A (p.Val416Met)
|
rs61764067
|
0.00375
|
NM_015102.5(NPHP4):c.3329C>T (p.Ala1110Val)
|
rs139767853
|
0.00374
|
NM_018139.3(DNAAF2):c.1851C>T (p.Asn617=)
|
rs147090213
|
0.00373
|
NM_025114.4(CEP290):c.1522+6C>T
|
rs148446546
|
0.00371
|
NM_023036.6(DNAI2):c.759G>A (p.Ala253=)
|
rs142656395
|
0.00370
|
NM_000549.5(TSHB):c.*64T>C
|
rs41312672
|
0.00368
|
NM_001384732.1(CPLANE1):c.4719C>T (p.Asp1573=)
|
rs143084362
|
0.00368
|
NM_015102.5(NPHP4):c.1503+10G>A
|
rs41307782
|
0.00367
|
NM_001128178.3(NPHP1):c.14G>T (p.Arg5Leu)
|
rs190983114
|
0.00366
|
NM_147127.5(EVC2):c.2047-9A>T
|
rs73198154
|
0.00366
|
NM_147127.5(EVC2):c.3375A>G (p.Ala1125=)
|
rs116076068
|
0.00366
|
NM_001377.3(DYNC2H1):c.1263C>A (p.Phe421Leu)
|
rs142881106
|
0.00365
|
NM_017950.4(CCDC40):c.3349G>A (p.Glu1117Lys)
|
rs145595957
|
0.00365
|
NM_153240.5(NPHP3):c.520-10C>G
|
rs200144727
|
0.00362
|
NM_001277115.2(DNAH11):c.11805G>A (p.Pro3935=)
|
rs187489343
|
0.00361
|
NM_198428.3(BBS9):c.*453C>G
|
rs74748415
|
0.00361
|
NM_001199397.3(NEK1):c.*551A>T
|
rs181225797
|
0.00360
|
NM_001010892.3(RSPH4A):c.144G>A (p.Gly48=)
|
rs112350099
|
0.00359
|
NM_170784.3(MKKS):c.1015A>G (p.Ile339Val)
|
rs137853909
|
0.00359
|
NM_001394148.2(LOC128706665):c.*87A>G
|
rs140884406
|
0.00358
|
NM_147127.5(EVC2):c.2601C>T (p.Ala867=)
|
rs116514447
|
0.00357
|
NM_147127.5(EVC2):c.707-4G>A
|
rs113806963
|
0.00357
|
NM_024753.5(TTC21B):c.724G>A (p.Asp242Asn)
|
rs74447004
|
0.00356
|
NM_024753.5(TTC21B):c.1571C>G (p.Ser524Cys)
|
rs145436538
|
0.00355
|
NM_144596.4(TTC8):c.194A>G (p.Asp65Gly)
|
rs114557412
|
0.00354
|
NM_153717.3(EVC):c.1855G>A (p.Val619Ile)
|
rs111293777
|
0.00354
|
NM_001384732.1(CPLANE1):c.9138C>G (p.Pro3046=)
|
rs16903511
|
0.00353
|
NM_001384732.1(CPLANE1):c.8769A>G (p.Thr2923=)
|
rs16903514
|
0.00352
|
NM_153717.3(EVC):c.*2285C>G
|
rs145479436
|
0.00352
|
NM_001134831.2(AHI1):c.517G>A (p.Ala173Thr)
|
rs146416468
|
0.00348
|
NM_012144.4(DNAI1):c.639G>A (p.Thr213=)
|
rs78865254
|
0.00348
|
NM_001377.3(DYNC2H1):c.3012T>C (p.Gly1004=)
|
rs202082545
|
0.00344
|
NM_014714.4(IFT140):c.3711C>T (p.Phe1237=)
|
rs146172074
|
0.00344
|
NM_023073.3(CPLANE1):c.*1369C>A
|
rs116197379
|
0.00344
|
NM_006642.5(SDCCAG8):c.986C>T (p.Thr329Met)
|
rs35859404
|
0.00342
|
NM_178452.6(DNAAF1):c.-66T>C
|
rs190497604
|
0.00342
|
NM_178452.6(DNAAF1):c.1227T>G (p.Gly409=)
|
rs148674729
|
0.00342
|
NM_147127.5(EVC2):c.2029C>A (p.Arg677=)
|
rs73198165
|
0.00341
|
NM_181426.2(CCDC39):c.930+12C>G
|
rs1401333
|
0.00338
|
NM_001044385.3(TMEM237):c.*2480T>G
|
rs75655554
|
0.00337
|
NM_001369.3(DNAH5):c.8757G>C (p.Glu2919Asp)
|
rs115776799
|
0.00334
|
NM_147127.5(EVC2):c.1224C>T (p.Ala408=)
|
rs114629810
|
0.00334
|
NM_153240.5(NPHP3):c.1189C>T (p.Arg397Cys)
|
rs141477666
|
0.00334
|
NM_181426.2(CCDC39):c.1073C>T (p.Thr358Ile)
|
rs183413880
|
0.00334
|
NM_001277115.2(DNAH11):c.4124G>A (p.Arg1375His)
|
rs151018293
|
0.00330
|
NM_015102.5(NPHP4):c.2914A>G (p.Ser972Gly)
|
rs187947581
|
0.00330
|
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=)
|
rs117370446
|
0.00329
|
NM_015102.5(NPHP4):c.4237G>A (p.Asp1413Asn)
|
rs115910810
|
0.00328
|
NM_001377.3(DYNC2H1):c.9939T>C (p.Ala3313=)
|
rs192003811
|
0.00327
|
NM_017777.3(MKS1):c.-64T>C
|
rs372127517
|
0.00325
|
NM_147127.5(EVC2):c.2621G>A (p.Arg874Gln)
|
rs114764023
|
0.00325
|
NM_015272.5(RPGRIP1L):c.1340T>C (p.Leu447Ser)
|
rs138155747
|
0.00322
|
NM_023036.6(DNAI2):c.468-4G>T
|
rs146462823
|
0.00321
|
NM_147127.5(EVC2):c.2648C>T (p.Ala883Val)
|
rs140951974
|
0.00320
|
NM_147127.5(EVC2):c.864C>T (p.Asn288=)
|
rs144730069
|
0.00320
|
NM_144596.4(TTC8):c.1401G>A (p.Pro467=)
|
rs114064158
|
0.00319
|
NM_147127.5(EVC2):c.1471-7T>C
|
rs150842594
|
0.00319
|
NM_001128178.3(NPHP1):c.*194T>C
|
rs189472793
|
0.00318
|
NM_001377.3(DYNC2H1):c.8881G>A (p.Ala2961Thr)
|
rs199568537
|
0.00317
|
NM_018718.3(CEP41):c.*2482A>T
|
rs189091601
|
0.00317
|
NM_001384732.1(CPLANE1):c.*518T>C
|
rs556117030
|
0.00315
|
NM_012210.4(TRIM32):c.*1077C>T
|
rs41266677
|
0.00314
|
NM_153717.3(EVC):c.-35C>A
|
rs546318095
|
0.00314
|
NM_181426.2(CCDC39):c.1433A>G (p.Gln478Arg)
|
rs115545935
|
0.00314
|
NM_153717.3(EVC):c.1127C>T (p.Ala376Val)
|
rs142535134
|
0.00309
|
NM_001277115.2(DNAH11):c.3237T>C (p.Leu1079=)
|
rs72657304
|
0.00308
|
NM_153717.3(EVC):c.*1185A>G
|
rs113728951
|
0.00308
|
NM_198525.3(KIF7):c.2501A>G (p.Gln834Arg)
|
rs138354681
|
0.00308
|
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_001277115.2(DNAH11):c.9935A>T (p.Asp3312Val)
|
rs72657389
|
0.00307
|
NM_018718.3(CEP41):c.*2116T>C
|
rs190709953
|
0.00306
|
NM_001277115.2(DNAH11):c.10391C>T (p.Thr3464Ile)
|
rs141112088
|
0.00305
|
NM_001378615.1(CC2D2A):c.-87G>A
|
rs145443888
|
0.00305
|
NM_017777.4(MKS1):c.213C>G (p.Asp71Glu)
|
rs142813109
|
0.00303
|
NM_001199397.3(NEK1):c.3285C>T (p.Pro1095=)
|
rs140408058
|
0.00301
|
NM_017950.4(CCDC40):c.2017G>A (p.Asp673Asn)
|
rs115850223
|
0.00301
|
NM_001277115.2(DNAH11):c.9468T>C (p.Asp3156=)
|
rs201207627
|
0.00299
|
NM_001369.3(DNAH5):c.4796+11C>A
|
rs146696580
|
0.00299
|
NM_014714.4(IFT140):c.1541T>A (p.Leu514His)
|
rs150903791
|
0.00297
|
NM_014714.4(IFT140):c.1542C>A (p.Leu514=)
|
rs141542834
|
0.00297
|
NM_012224.2(NEK1):c.-654C>T
|
rs72694709
|
0.00295
|
NM_017950.4(CCDC40):c.2236-15G>A
|
rs148674510
|
0.00295
|
NM_024685.3(BBS10):c.-71C>T
|
rs569445445
|
0.00293
|
NM_001010892.3(RSPH4A):c.675G>T (p.Ser225=)
|
rs79327004
|
0.00290
|
NM_014714.4(IFT140):c.2988T>C (p.Asn996=)
|
rs78178397
|
0.00290
|
NM_018718.3(CEP41):c.*593G>A
|
rs186685101
|
0.00290
|
NM_020779.4(WDR35):c.*813A>T
|
rs148210550
|
0.00290
|
NM_144596.4(TTC8):c.-25G>A
|
rs7145692
|
0.00290
|
NM_153717.3(EVC):c.-36G>A
|
rs577263762
|
0.00288
|
NM_018139.3(DNAAF2):c.1953A>G (p.Pro651=)
|
rs34352773
|
0.00287
|
NM_018718.3(CEP41):c.*136T>G
|
rs148305542
|
0.00287
|
NM_147127.5(EVC2):c.*90C>T
|
rs115810595
|
0.00287
|
NM_153717.3(EVC):c.*491C>T
|
rs114993332
|
0.00287
|
NM_198428.3(BBS9):c.2216C>T (p.Ala739Val)
|
rs116483694
|
0.00287
|
NM_018718.3(CEP41):c.*4314T>C
|
rs114939029
|
0.00286
|
NM_147127.5(EVC2):c.122C>A (p.Pro41His)
|
rs544397395
|
0.00286
|
NM_001369.3(DNAH5):c.10457T>C (p.Met3486Thr)
|
rs141651941
|
0.00285
|
NM_001384732.1(CPLANE1):c.7234-7C>G
|
rs141575785
|
0.00285
|
NM_020779.4(WDR35):c.2262C>T (p.Asp754=)
|
rs147206032
|
0.00285
|
NM_024649.5(BBS1):c.831-5C>T
|
rs56177555
|
0.00285
|
NM_015102.5(NPHP4):c.3036C>T (p.Pro1012=)
|
rs34265978
|
0.00283
|
NM_018718.3(CEP41):c.*4322G>A
|
rs538898722
|
0.00283
|
NM_001369.3(DNAH5):c.5266G>A (p.Glu1756Lys)
|
rs116524991
|
0.00282
|
NM_152618.3(BBS12):c.-61G>C
|
rs59440868
|
0.00282
|
NM_153240.5(NPHP3):c.*1188A>G
|
rs7632096
|
0.00282
|
NM_153717.3(EVC):c.*2692G>T
|
rs149155153
|
0.00279
|
NM_001369.3(DNAH5):c.299G>C (p.Gly100Ala)
|
rs144236383
|
0.00278
|
NM_153704.6(TMEM67):c.2161C>T (p.Pro721Ser)
|
rs116445698
|
0.00278
|
NM_001369.3(DNAH5):c.4510G>C (p.Gly1504Arg)
|
rs143567667
|
0.00277
|
NM_019892.6(INPP5E):c.1159+8C>T
|
rs73566945
|
0.00276
|
NM_181426.2(CCDC39):c.*660A>G
|
rs185867448
|
0.00276
|
NM_001369.3(DNAH5):c.*426C>T
|
rs541323896
|
0.00275
|
NM_016464.4(TMEM138):c.-479A>C
|
rs192845534
|
0.00275
|
NM_025132.4(WDR19):c.2792A>C (p.Tyr931Ser)
|
rs187546086
|
0.00275
|
NM_005465.7(AKT3):c.*5398_*5402dup
|
rs368945100
|
0.00273
|
NM_144596.4(TTC8):c.284A>G (p.Lys95Arg)
|
rs150880478
|
0.00272
|
NM_147127.5(EVC2):c.*207A>G
|
rs73072282
|
0.00270
|
NM_147127.5(EVC2):c.3659+8T>C
|
rs200119306
|
0.00270
|
NM_001023570.4(IQCB1):c.588T>C (p.Ser196=)
|
rs80015876
|
0.00267
|
NM_024649.5(BBS1):c.24T>C (p.Asp8=)
|
rs55848325
|
0.00267
|
NM_001378615.1(CC2D2A):c.4459C>T (p.Arg1487Cys)
|
rs186486235
|
0.00265
|
NM_015102.5(NPHP4):c.1622C>T (p.Pro541Leu)
|
rs145255635
|
0.00265
|
NM_181426.2(CCDC39):c.1198G>T (p.Gly400Cys)
|
rs147383873
|
0.00265
|
NM_144596.4(TTC8):c.*93G>A
|
rs116740320
|
0.00263
|
NM_178452.6(DNAAF1):c.1496C>T (p.Pro499Leu)
|
rs112114400
|
0.00262
|
NM_198525.3(KIF7):c.2192-13C>T
|
rs201251064
|
0.00262
|
NM_198525.3(KIF7):c.3111+9C>A
|
rs147996726
|
0.00261
|
NM_213607.3(CCDC103):c.*24C>T
|
rs192397040
|
0.00261
|
NM_001377.3(DYNC2H1):c.1484A>C (p.Lys495Thr)
|
rs202233363
|
0.00255
|
NM_001369.3(DNAH5):c.7752+10T>C
|
rs149460805
|
0.00253
|
NM_001369.3(DNAH5):c.9681A>G (p.Lys3227=)
|
rs138639741
|
0.00252
|
NM_020779.4(WDR35):c.2964+12C>T
|
rs113663112
|
0.00252
|
NM_024753.5(TTC21B):c.-17C>T
|
rs572065013
|
0.00252
|
NM_025132.4(WDR19):c.-15G>T
|
rs150860929
|
0.00252
|
NM_001369.3(DNAH5):c.8805G>C (p.Met2935Ile)
|
rs77874614
|
0.00250
|
NM_031885.5(BBS2):c.1422G>A (p.Ser474=)
|
rs117033008
|
0.00250
|
NM_025132.4(WDR19):c.3183+9G>A
|
rs138318063
|
0.00248
|
NM_001377.3(DYNC2H1):c.*558T>C
|
rs143796055
|
0.00247
|
NM_025132.4(WDR19):c.2142+12G>A
|
rs149621476
|
0.00246
|
NM_015272.5(RPGRIP1L):c.532A>G (p.Ile178Val)
|
rs140067659
|
0.00245
|
NM_017950.4(CCDC40):c.334A>G (p.Thr112Ala)
|
rs201709592
|
0.00245
|
NM_015272.5(RPGRIP1L):c.2807T>G (p.Ile936Ser)
|
rs146197239
|
0.00244
|
NM_018719.5(CDCA7L):c.*963G>C
|
rs79947346
|
0.00244
|
NM_153717.3(EVC):c.532G>A (p.Val178Ile)
|
rs144897690
|
0.00243
|
NM_001277115.2(DNAH11):c.11233G>A (p.Glu3745Lys)
|
rs182389910
|
0.00242
|
NM_014714.4(IFT140):c.1524+14C>G
|
rs369481491
|
0.00241
|
NM_020800.3(IFT80):c.1864G>A (p.Ala622Thr)
|
rs138161346
|
0.00241
|
NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys)
|
rs182369459
|
0.00241
|
NM_152618.3(BBS12):c.*804A>G
|
rs151076630
|
0.00240
|
NM_019892.6(INPP5E):c.813-5C>G
|
rs186462782
|
0.00238
|
NM_181426.2(CCDC39):c.2299T>C (p.Leu767=)
|
rs200913298
|
0.00238
|
NM_198525.3(KIF7):c.*37G>A
|
rs147387691
|
0.00238
|
NM_001023570.4(IQCB1):c.1549A>T (p.Asn517Tyr)
|
rs139468837
|
0.00237
|
NM_001384732.1(CPLANE1):c.8958+4A>C
|
rs199810663
|
0.00237
|
NM_001377.3(DYNC2H1):c.9814T>A (p.Leu3272Ile)
|
rs200342335
|
0.00236
|
NM_014714.4(IFT140):c.3079G>A (p.Gly1027Arg)
|
rs137995818
|
0.00236
|
NM_024809.5(TCTN2):c.720C>G (p.Pro240=)
|
rs149430216
|
0.00236
|
NM_001277115.2(DNAH11):c.3384C>T (p.Ser1128=)
|
rs79955190
|
0.00235
|
NM_017777.4(MKS1):c.1388G>A (p.Arg463Gln)
|
rs201619500
|
0.00235
|
NM_024753.5(TTC21B):c.1846C>T (p.Arg616Cys)
|
rs139441507
|
0.00235
|
NM_020779.4(WDR35):c.1591C>G (p.Leu531Val)
|
rs148242353
|
0.00233
|
NM_178452.6(DNAAF1):c.1245C>G (p.Thr415=)
|
rs147804813
|
0.00233
|
NM_153717.3(EVC):c.*1248T>G
|
rs559890176
|
0.00230
|
NM_012144.4(DNAI1):c.-170T>A
|
rs55750068
|
0.00229
|
NM_001369.3(DNAH5):c.624C>T (p.Asn208=)
|
rs139640247
|
0.00228
|
NM_014714.4(IFT140):c.1831G>A (p.Val611Ile)
|
rs35301526
|
0.00228
|
NM_001199397.3(NEK1):c.1021G>A (p.Ala341Thr)
|
rs189186475
|
0.00227
|
NM_144596.4(TTC8):c.1253A>G (p.Gln418Arg)
|
rs142938748
|
0.00227
|
NM_181426.2(CCDC39):c.1008G>A (p.Lys336=)
|
rs79329972
|
0.00226
|
NM_020800.3(IFT80):c.880G>A (p.Val294Ile)
|
rs148926415
|
0.00224
|
NM_001010892.3(RSPH4A):c.1917-4A>G
|
rs201826366
|
0.00223
|
NM_018139.3(DNAAF2):c.1405T>A (p.Cys469Ser)
|
rs202079418
|
0.00223
|
NM_018718.3(CEP41):c.1009T>C (p.Ser337Pro)
|
rs147444165
|
0.00223
|
NM_020779.4(WDR35):c.355C>T (p.Arg119Cys)
|
rs140308808
|
0.00221
|
NM_001044385.3(TMEM237):c.136+8G>A
|
rs200618675
|
0.00220
|
NM_001277115.2(DNAH11):c.7765G>A (p.Val2589Ile)
|
rs145239537
|
0.00220
|
NM_014714.4(IFT140):c.3874-11C>T
|
rs199887622
|
0.00220
|
NM_018718.3(CEP41):c.*1974A>G
|
rs185337247
|
0.00220
|
NM_147127.5(EVC2):c.2151C>T (p.His717=)
|
rs144584049
|
0.00220
|
NM_152618.3(BBS12):c.212A>G (p.Asn71Ser)
|
rs143960329
|
0.00220
|
NM_001199397.3(NEK1):c.975A>G (p.Gly325=)
|
rs150904906
|
0.00218
|
NM_018718.3(CEP41):c.616C>G (p.Pro206Ala)
|
rs143303575
|
0.00218
|
NM_001199397.3(NEK1):c.782G>A (p.Arg261His)
|
rs200161705
|
0.00216
|
NM_012144.4(DNAI1):c.-180G>A
|
rs180838420
|
0.00215
|
NM_001277115.2(DNAH11):c.10782G>A (p.Pro3594=)
|
rs72657400
|
0.00213
|
NM_023036.6(DNAI2):c.*299A>G
|
rs189443329
|
0.00213
|
NM_024753.5(TTC21B):c.*1087A>T
|
rs150328867
|
0.00213
|
NM_153704.6(TMEM67):c.1309C>G (p.Leu437Val)
|
rs35765535
|
0.00213
|
NM_001277115.2(DNAH11):c.13076G>A (p.Arg4359Gln)
|
rs113653972
|
0.00212
|
NM_001377.3(DYNC2H1):c.9297T>C (p.Tyr3099=)
|
rs180787556
|
0.00212
|
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)
|
rs113624356
|
0.00212
|
NM_153240.5(NPHP3):c.1157A>G (p.Asn386Ser)
|
rs142021049
|
0.00211
|
NM_181426.2(CCDC39):c.*643C>T
|
rs190149639
|
0.00211
|
NM_153717.3(EVC):c.1636A>G (p.Met546Val)
|
rs112608085
|
0.00209
|
NM_001044385.3(TMEM237):c.*439G>A
|
rs139374574
|
0.00208
|
NM_001044385.3(TMEM237):c.*634C>T
|
rs139016907
|
0.00207
|
NM_001369.3(DNAH5):c.9355A>G (p.Lys3119Glu)
|
rs76690956
|
0.00205
|
NM_023036.6(DNAI2):c.1408G>A (p.Gly470Ser)
|
rs115299472
|
0.00205
|
NM_147127.5(EVC2):c.2883A>C (p.Gly961=)
|
rs149188988
|
0.00205
|
NM_001128178.3(NPHP1):c.771+59G>A
|
rs143174377
|
0.00203
|
NM_001173990.3(TMEM216):c.*107G>T
|
rs535550368
|
0.00203
|
NM_017950.4(CCDC40):c.1275C>T (p.Ala425=)
|
rs145013523
|
0.00203
|
NM_147127.5(EVC2):c.1462G>A (p.Gly488Ser)
|
rs145277501
|
0.00203
|
NM_198525.3(KIF7):c.2981A>G (p.Gln994Arg)
|
rs138410949
|
0.00203
|
NM_015272.5(RPGRIP1L):c.*1385A>G
|
rs150194508
|
0.00201
|
NM_020779.4(WDR35):c.1524+11C>A
|
rs200213874
|
0.00201
|
NM_153717.3(EVC):c.1826G>A (p.Arg609Gln)
|
rs41269557
|
0.00201
|
NM_015102.5(NPHP4):c.2882G>A (p.Arg961His)
|
rs183885357
|
0.00200
|
NM_017950.4(CCDC40):c.1673C>G (p.Thr558Arg)
|
rs191736683
|
0.00200
|
NM_017950.4(CCDC40):c.1739A>G (p.Gln580Arg)
|
rs200815406
|
0.00200
|
NM_018718.3(CEP41):c.*3274G>A
|
rs112007936
|
0.00199
|
NM_020779.4(WDR35):c.3121+3G>A
|
rs200042577
|
0.00199
|
NM_020779.4(WDR35):c.*3225G>A
|
rs189820516
|
0.00198
|
NM_020779.4(WDR35):c.*3235C>A
|
rs186978842
|
0.00198
|
NM_025114.4(CEP290):c.251-11T>A
|
rs200666995
|
0.00198
|
NM_014714.4(IFT140):c.1336A>G (p.Ile446Val)
|
rs139619013
|
0.00196
|
NM_153704.6(TMEM67):c.*1653G>A
|
rs544858713
|
0.00196
|
NM_015272.5(RPGRIP1L):c.*1461A>T
|
rs184079732
|
0.00195
|
NM_015272.5(RPGRIP1L):c.2673G>A (p.Arg891=)
|
rs61742381
|
0.00195
|
NM_153717.3(EVC):c.8G>C (p.Arg3Pro)
|
rs756852655
|
0.00195
|
NM_001010892.3(RSPH4A):c.2101G>C (p.Glu701Gln)
|
rs140660854
|
0.00194
|
NM_001082538.3(TCTN1):c.1387T>C (p.Trp463Arg)
|
rs114568905
|
0.00194
|
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_024649.5(BBS1):c.1719A>G (p.Gln573=)
|
rs150553044
|
0.00194
|
NM_153717.3(EVC):c.550G>A (p.Asp184Asn)
|
rs41269549
|
0.00194
|
NM_017950.4(CCDC40):c.*383G>A
|
rs114892048
|
0.00193
|
NM_176824.3(BBS7):c.*250T>G
|
rs80171619
|
0.00193
|
NM_001256715.2(DNAAF3):c.531C>T (p.Gly177=)
|
rs559008223
|
0.00192
|
NM_001377.3(DYNC2H1):c.*388A>T
|
rs113577674
|
0.00192
|
NM_001384732.1(CPLANE1):c.9093A>G (p.Ser3031=)
|
rs141014620
|
0.00190
|
NM_012210.4(TRIM32):c.*1152A>G
|
rs557939030
|
0.00190
|
NM_024753.5(TTC21B):c.1676T>G (p.Val559Gly)
|
rs149325238
|
0.00190
|
NM_001377.3(DYNC2H1):c.3682C>A (p.Leu1228Ile)
|
rs189806840
|
0.00189
|
NM_001384732.1(CPLANE1):c.765A>C (p.Gly255=)
|
rs117995360
|
0.00189
|
NM_001199397.3(NEK1):c.1581T>C (p.Ala527=)
|
rs184804243
|
0.00188
|
NM_015102.5(NPHP4):c.2868C>T (p.Ala956=)
|
rs138025088
|
0.00188
|
NM_020779.4(WDR35):c.2566G>T (p.Val856Phe)
|
rs149667250
|
0.00188
|
NM_024809.5(TCTN2):c.654C>T (p.Leu218=)
|
rs138897437
|
0.00188
|
NM_153717.3(EVC):c.1369G>A (p.Glu457Lys)
|
rs141859946
|
0.00188
|
NM_001256715.2(DNAAF3):c.832G>A (p.Ala278Thr)
|
rs200775946
|
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_001278293.3(ARL6):c.*495C>T
|
rs188498639
|
0.00186
|
NM_001384732.1(CPLANE1):c.5738-6C>T
|
rs148634159
|
0.00186
|
NM_001369.3(DNAH5):c.10294G>T (p.Val3432Leu)
|
rs143251588
|
0.00185
|
NM_001369.3(DNAH5):c.10323G>A (p.Met3441Ile)
|
rs149133845
|
0.00185
|
NM_018718.3(CEP41):c.*655C>T
|
rs141441037
|
0.00185
|
NM_001369.3(DNAH5):c.3514C>A (p.Gln1172Lys)
|
rs141168110
|
0.00184
|
NM_012210.4(TRIM32):c.558G>C (p.Gln186His)
|
rs117599771
|
0.00183
|
NM_020779.4(WDR35):c.*997T>C
|
rs536197643
|
0.00183
|
NM_001128178.3(NPHP1):c.1270-4C>T
|
rs151204566
|
0.00181
|
NM_001369.3(DNAH5):c.9244C>A (p.Leu3082Ile)
|
rs147372600
|
0.00180
|
NM_001369.3(DNAH5):c.9941G>A (p.Arg3314His)
|
rs143858741
|
0.00180
|
NM_178452.6(DNAAF1):c.1664A>T (p.Asp555Val)
|
rs145973397
|
0.00178
|
NM_181426.2(CCDC39):c.2534T>C (p.Ile845Thr)
|
rs139560004
|
0.00177
|
NM_001369.3(DNAH5):c.1356G>A (p.Lys452=)
|
rs144748846
|
0.00176
|
NM_033028.5(BBS4):c.*737T>C
|
rs572076143
|
0.00176
|
NM_001384732.1(CPLANE1):c.1411C>G (p.Leu471Val)
|
rs139940282
|
0.00175
|
NM_001278293.3(ARL6):c.-137A>C
|
rs192372191
|
0.00174
|
NM_001369.3(DNAH5):c.*1652C>T
|
rs149589710
|
0.00173
|
NM_153717.3(EVC):c.*1243A>G
|
rs111984543
|
0.00173
|
NM_001369.3(DNAH5):c.3734G>A (p.Arg1245His)
|
rs77939839
|
0.00172
|
NM_015102.5(NPHP4):c.3574C>T (p.Arg1192Trp)
|
rs139022622
|
0.00172
|
NM_153717.3(EVC):c.934G>A (p.Asp312Asn)
|
rs115275195
|
0.00171
|
NM_018718.3(CEP41):c.*1056A>C
|
rs574982700
|
0.00170
|
NM_001199397.3(NEK1):c.3411G>A (p.Leu1137=)
|
rs56077602
|
0.00169
|
NM_001277115.2(DNAH11):c.12175G>A (p.Ala4059Thr)
|
rs142372794
|
0.00168
|
NM_014714.4(IFT140):c.3993G>C (p.Gln1331His)
|
rs35823417
|
0.00168
|
NM_020779.4(WDR35):c.2066G>A (p.Arg689His)
|
rs74470618
|
0.00168
|
NM_001384732.1(CPLANE1):c.8790C>T (p.Ser2930=)
|
rs148005445
|
0.00167
|
NM_178452.6(DNAAF1):c.1567G>A (p.Val523Ile)
|
rs148387367
|
0.00167
|
NM_001277115.2(DNAH11):c.10976C>T (p.Ala3659Val)
|
rs150631721
|
0.00166
|
NM_025132.4(WDR19):c.2361C>T (p.Phe787=)
|
rs200133722
|
0.00165
|
NM_147127.5(EVC2):c.2487G>A (p.Glu829=)
|
rs16837501
|
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_001277115.2(DNAH11):c.8533C>G (p.Arg2845Gly)
|
rs121908854
|
0.00163
|
NM_015102.5(NPHP4):c.4179T>A (p.Phe1393Leu)
|
rs35641267
|
0.00163
|
NM_018718.3(CEP41):c.*5068G>A
|
rs148856430
|
0.00163
|
NM_020779.4(WDR35):c.*1582C>T
|
rs757203175
|
0.00162
|
NM_017950.4(CCDC40):c.2251C>A (p.Pro751Thr)
|
rs141343307
|
0.00161
|
NM_018718.3(CEP41):c.*740C>T
|
rs553917711
|
0.00161
|
NM_020779.4(WDR35):c.3279G>C (p.Gln1093His)
|
rs148436608
|
0.00161
|
NM_023036.6(DNAI2):c.1660G>A (p.Asp554Asn)
|
rs117932646
|
0.00161
|
NM_024753.5(TTC21B):c.2600G>A (p.Arg867His)
|
rs76726265
|
0.00161
|
NM_213607.3(CCDC103):c.627G>A (p.Glu209=)
|
rs200474997
|
0.00161
|
NM_001369.3(DNAH5):c.1321-15T>C
|
rs202081804
|
0.00160
|
NM_012210.4(TRIM32):c.*512A>T
|
rs144172952
|
0.00160
|
NM_001134831.2(AHI1):c.3164C>T (p.Thr1055Met)
|
rs73559947
|
0.00159
|
NM_018718.3(CEP41):c.*4594C>T
|
rs151309255
|
0.00159
|
NM_024685.4(BBS10):c.1736A>G (p.Lys579Arg)
|
rs141521925
|
0.00159
|
NM_001369.3(DNAH5):c.1206T>A (p.Asn402Lys)
|
rs140782270
|
0.00158
|
NM_020779.4(WDR35):c.*1681A>G
|
rs188310451
|
0.00158
|
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_001377.3(DYNC2H1):c.12366+8A>G
|
rs200404815
|
0.00156
|
NM_015272.5(RPGRIP1L):c.2153-4G>C
|
rs201380599
|
0.00156
|
NM_015910.7(WDPCP):c.176T>A (p.Ile59Asn)
|
rs202196322
|
0.00156
|
NM_020800.3(IFT80):c.897G>A (p.Val299=)
|
rs145776235
|
0.00156
|
NM_181426.2(CCDC39):c.880A>G (p.Arg294Gly)
|
rs61733577
|
0.00156
|
NM_176824.3(BBS7):c.1235A>G (p.Asp412Gly)
|
rs111442398
|
0.00154
|
NM_001199397.3(NEK1):c.*156C>T
|
rs886059224
|
0.00153
|
NM_001277115.2(DNAH11):c.3933A>G (p.Pro1311=)
|
rs138071140
|
0.00153
|
NM_018718.3(CEP41):c.20T>C (p.Ile7Thr)
|
rs147494464
|
0.00152
|
NM_001199397.3(NEK1):c.924T>G (p.Ile308Met)
|
rs10034957
|
0.00151
|
NM_001377.3(DYNC2H1):c.9749A>G (p.Gln3250Arg)
|
rs140830294
|
0.00151
|
NM_001378454.1(ALMS1):c.*105A>G
|
rs553541249
|
0.00150
|
NM_025132.4(WDR19):c.3667C>T (p.Arg1223Cys)
|
rs201597047
|
0.00150
|
NM_153717.3(EVC):c.1333A>C (p.Lys445Gln)
|
rs116952023
|
0.00150
|
NM_153717.3(EVC):c.2869G>A (p.Gly957Arg)
|
rs35926225
|
0.00150
|
NM_198525.3(KIF7):c.3514C>A (p.Arg1172=)
|
rs138196132
|
0.00150
|
NM_198525.3(KIF7):c.3998C>A (p.Pro1333Gln)
|
rs145726393
|
0.00150
|
NM_147127.5(EVC2):c.2394G>A (p.Arg798=)
|
rs147173201
|
0.00149
|
NM_147127.5(EVC2):c.2395G>C (p.Asp799His)
|
rs143491078
|
0.00149
|
NM_001134831.2(AHI1):c.*1404A>G
|
rs149288894
|
0.00148
|
NM_015102.5(NPHP4):c.2519G>A (p.Ser840Asn)
|
rs147588666
|
0.00147
|
NM_015910.7(WDPCP):c.985G>A (p.Val329Met)
|
rs199959383
|
0.00147
|
NM_001369.3(DNAH5):c.8845C>G (p.Gln2949Glu)
|
rs147688221
|
0.00146
|
NM_020779.4(WDR35):c.*601A>G
|
rs182037850
|
0.00146
|
NM_025114.4(CEP290):c.1298A>G (p.Asp433Gly)
|
rs200211587
|
0.00146
|
NM_147127.5(EVC2):c.3411C>T (p.Ala1137=)
|
rs144532809
|
0.00146
|
NM_001023570.4(IQCB1):c.1441G>A (p.Glu481Lys)
|
rs140630401
|
0.00145
|
NM_020779.4(WDR35):c.1248T>G (p.Ile416Met)
|
rs144701688
|
0.00145
|
NM_153704.6(TMEM67):c.186T>C (p.Cys62=)
|
rs115660279
|
0.00145
|
NM_153717.3(EVC):c.*971C>G
|
rs13121258
|
0.00145
|
NM_020779.4(WDR35):c.*2160T>C
|
rs192966128
|
0.00144
|
NM_015272.5(RPGRIP1L):c.-9C>T
|
rs779839225
|
0.00143
|
NM_024809.5(TCTN2):c.615C>T (p.Gly205=)
|
rs147485641
|
0.00143
|
NM_001378615.1(CC2D2A):c.2804G>A (p.Arg935Gln)
|
rs187003641
|
0.00142
|
NM_153240.5(NPHP3):c.449C>T (p.Ala150Val)
|
rs142663818
|
0.00142
|
NM_001010892.3(RSPH4A):c.1662+15C>T
|
rs183372450
|
0.00141
|
NM_144596.4(TTC8):c.1077C>T (p.Asn359=)
|
rs150896551
|
0.00141
|
NM_001044385.3(TMEM237):c.*1382C>T
|
rs187040024
|
0.00140
|
NM_001044385.3(TMEM237):c.*3728A>G
|
rs555315551
|
0.00140
|
NM_001377.3(DYNC2H1):c.3181C>G (p.Leu1061Val)
|
rs200466720
|
0.00140
|
NM_001128178.3(NPHP1):c.*250C>T
|
rs150558683
|
0.00139
|
NM_001369.3(DNAH5):c.7998G>T (p.Glu2666Asp)
|
rs148720124
|
0.00139
|
NM_018718.3(CEP41):c.*2389G>A
|
rs73152867
|
0.00138
|
NM_198525.3(KIF7):c.3944C>T (p.Pro1315Leu)
|
rs150248985
|
0.00138
|
NM_170784.3(MKKS):c.-159A>G
|
rs566532177
|
0.00137
|
NM_001044385.3(TMEM237):c.97C>T (p.Arg33Cys)
|
rs200714434
|
0.00136
|
NM_181426.2(CCDC39):c.1954C>T (p.Pro652Ser)
|
rs145506099
|
0.00136
|
NM_019892.6(INPP5E):c.21T>C (p.Asn7=)
|
rs571588033
|
0.00135
|
NM_020779.4(WDR35):c.1183A>T (p.Asn395Tyr)
|
rs143343508
|
0.00135
|
NM_198428.3(BBS9):c.*336A>G
|
rs578208457
|
0.00135
|
NM_033028.5(BBS4):c.37C>T (p.Pro13Ser)
|
rs151164191
|
0.00134
|
NM_153717.3(EVC):c.*1288T>C
|
rs1280696850
|
0.00134
|
NM_012472.6(DNAAF11):c.*179A>G
|
rs549691657
|
0.00133
|
NM_025114.4(CEP290):c.3654T>C (p.Leu1218=)
|
rs201838492
|
0.00133
|
NM_153704.6(TMEM67):c.*853G>A
|
rs191740525
|
0.00133
|
NM_001369.3(DNAH5):c.8137C>T (p.Arg2713Cys)
|
rs111912673
|
0.00131
|
NM_001377.3(DYNC2H1):c.8481A>C (p.Thr2827=)
|
rs370627443
|
0.00129
|
NM_147127.5(EVC2):c.1823G>A (p.Arg608His)
|
rs145693546
|
0.00129
|
NM_153704.6(TMEM67):c.2241G>A (p.Gln747=)
|
rs115563233
|
0.00128
|
NM_001128178.3(NPHP1):c.232T>C (p.Tyr78His)
|
rs140446520
|
0.00127
|
NM_001369.3(DNAH5):c.13286G>A (p.Arg4429Gln)
|
rs61744047
|
0.00127
|
NM_001010892.3(RSPH4A):c.1974A>G (p.Thr658=)
|
rs142977481
|
0.00126
|
NM_031885.5(BBS2):c.*34A>G
|
rs199627406
|
0.00125
|
NM_001010892.3(RSPH4A):c.*277A>G
|
rs148830140
|
0.00124
|
NM_001369.3(DNAH5):c.2443T>A (p.Leu815Met)
|
rs149654950
|
0.00124
|
NM_015102.5(NPHP4):c.3911A>G (p.His1304Arg)
|
rs115488133
|
0.00124
|
NM_015102.5(NPHP4):c.800A>T (p.His267Leu)
|
rs201124357
|
0.00124
|
NM_024809.5(TCTN2):c.668C>T (p.Thr223Met)
|
rs145374149
|
0.00124
|
NM_017950.4(CCDC40):c.3046G>A (p.Val1016Ile)
|
rs117307093
|
0.00123
|
NM_213607.3(CCDC103):c.461A>C (p.His154Pro)
|
rs145457535
|
0.00123
|
NM_001010892.3(RSPH4A):c.1990C>T (p.Pro664Ser)
|
rs146142715
|
0.00122
|
NM_001369.3(DNAH5):c.7753-9C>G
|
rs377367981
|
0.00122
|
NM_015102.5(NPHP4):c.3168C>T (p.His1056=)
|
rs376351293
|
0.00121
|
NM_020779.4(WDR35):c.*2623T>C
|
rs538967974
|
0.00121
|
NM_023036.6(DNAI2):c.598A>C (p.Ile200Leu)
|
rs144786630
|
0.00121
|
NM_153717.3(EVC):c.89C>T (p.Pro30Leu)
|
rs886044558
|
0.00121
|
NM_001199397.3(NEK1):c.-289T>C
|
rs776707093
|
0.00120
|
NM_001378615.1(CC2D2A):c.351T>G (p.Ser117Arg)
|
rs186264635
|
0.00120
|
NM_006642.5(SDCCAG8):c.279G>A (p.Pro93=)
|
rs145877279
|
0.00120
|
NM_014714.4(IFT140):c.546C>T (p.Asp182=)
|
rs150014480
|
0.00120
|
NM_153240.5(NPHP3):c.*1020T>C
|
rs186828918
|
0.00120
|
NM_181426.2(CCDC39):c.2409T>C (p.Cys803=)
|
rs201601768
|
0.00119
|
NM_001369.3(DNAH5):c.12472C>T (p.Arg4158Trp)
|
rs3756672
|
0.00118
|
NM_024753.5(TTC21B):c.19A>G (p.Lys7Glu)
|
rs375721812
|
0.00118
|
NM_033028.5(BBS4):c.208A>G (p.Ile70Val)
|
rs142692981
|
0.00118
|
NM_178452.6(DNAAF1):c.1031-5A>T
|
rs79772571
|
0.00118
|
NM_018718.3(CEP41):c.*4216C>T
|
rs187549864
|
0.00117
|
NM_019892.6(INPP5E):c.1550-14C>T
|
rs181576122
|
0.00117
|
NM_012472.6(DNAAF11):c.1343T>C (p.Ile448Thr)
|
rs78620801
|
0.00116
|
NM_020779.4(WDR35):c.*2622A>G
|
rs558837510
|
0.00116
|
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly)
|
rs148000791
|
0.00115
|
NM_001369.3(DNAH5):c.8002G>A (p.Gly2668Arg)
|
rs147236883
|
0.00115
|
NM_024649.5(BBS1):c.235G>A (p.Glu79Lys)
|
rs138744839
|
0.00115
|
NM_181426.2(CCDC39):c.1865A>G (p.Glu622Gly)
|
rs200277460
|
0.00115
|
NM_153717.3(EVC):c.*2493A>G
|
rs188345323
|
0.00114
|
NM_181426.2(CCDC39):c.*841C>T
|
rs189097577
|
0.00114
|
NM_001044385.3(TMEM237):c.*564T>C
|
rs141560423
|
0.00113
|
NM_001384732.1(CPLANE1):c.1755A>G (p.Ser585=)
|
rs186970259
|
0.00113
|
NM_015102.5(NPHP4):c.1024C>T (p.Arg342Cys)
|
rs190940697
|
0.00113
|
NM_031885.5(BBS2):c.865A>G (p.Ile289Val)
|
rs150384293
|
0.00113
|
NM_001369.3(DNAH5):c.3650T>C (p.Ile1217Thr)
|
rs112124692
|
0.00112
|
NM_014714.4(IFT140):c.-4C>T
|
rs140403660
|
0.00112
|
NM_015910.7(WDPCP):c.*446C>T
|
rs566014787
|
0.00112
|
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_001384732.1(CPLANE1):c.8374-15G>A
|
rs74881219
|
0.00111
|
NM_031885.3(BBS2):c.-225C>T
|
rs117744577
|
0.00111
|
NM_001023570.4(IQCB1):c.*218G>A
|
rs552311575
|
0.00110
|
NM_001277115.2(DNAH11):c.12174C>T (p.Ala4058=)
|
rs185794149
|
0.00110
|
NM_001369.3(DNAH5):c.1251C>T (p.Thr417=)
|
rs112911055
|
0.00109
|
NM_001384732.1(CPLANE1):c.6905C>T (p.Thr2302Met)
|
rs34737149
|
0.00109
|
NM_014714.4(IFT140):c.2561C>T (p.Thr854Met)
|
rs202189990
|
0.00109
|
NM_015102.5(NPHP4):c.271T>C (p.Phe91Leu)
|
rs201065230
|
0.00109
|
NM_024809.5(TCTN2):c.*258G>C
|
rs540710300
|
0.00109
|
NM_181426.2(CCDC39):c.1781C>T (p.Thr594Ile)
|
rs140505857
|
0.00109
|
NM_001384732.1(CPLANE1):c.*642G>A
|
rs543018376
|
0.00108
|
NM_015272.5(RPGRIP1L):c.*1482G>A
|
rs192765976
|
0.00108
|
NM_024753.5(TTC21B):c.2587C>T (p.Arg863Trp)
|
rs34489989
|
0.00108
|
NM_033028.5(BBS4):c.*157C>G
|
rs149263274
|
0.00108
|
NM_198525.3(KIF7):c.2861C>T (p.Thr954Met)
|
rs141463861
|
0.00108
|
NM_024753.5(TTC21B):c.2472G>A (p.Leu824=)
|
rs114725374
|
0.00107
|
NM_001369.3(DNAH5):c.1644+12A>G
|
rs201116549
|
0.00106
|
NM_001384732.1(CPLANE1):c.8711A>G (p.Asp2904Gly)
|
rs144427399
|
0.00106
|
NM_025114.4(CEP290):c.4476A>G (p.Glu1492=)
|
rs181248369
|
0.00106
|
NM_001384732.1(CPLANE1):c.*714T>A
|
rs191724705
|
0.00105
|
NM_001384732.1(CPLANE1):c.5928G>A (p.Gly1976=)
|
rs34161326
|
0.00104
|
NM_015681.6(B9D1):c.568A>T (p.Thr190Ser)
|
rs147684440
|
0.00104
|
NM_153240.5(NPHP3):c.*852C>A
|
rs192360684
|
0.00104
|
NM_001277115.2(DNAH11):c.13257A>G (p.Gly4419=)
|
rs200445638
|
0.00103
|
NM_001369.3(DNAH5):c.3021G>T (p.Leu1007Phe)
|
rs188638970
|
0.00103
|
NM_001134831.2(AHI1):c.3503A>G (p.Glu1168Gly)
|
rs199578341
|
0.00102
|
NM_020800.3(IFT80):c.*767G>C
|
rs146492619
|
0.00102
|
NM_015272.5(RPGRIP1L):c.1072T>C (p.Leu358=)
|
rs147295026
|
0.00101
|
NM_018718.3(CEP41):c.*1579T>C
|
rs554826749
|
0.00101
|
NM_025132.4(WDR19):c.2386G>A (p.Ala796Thr)
|
rs187332731
|
0.00101
|
NM_001378615.1(CC2D2A):c.-47G>A
|
rs778112215
|
0.00100
|
NM_019892.6(INPP5E):c.1506G>A (p.Pro502=)
|
rs74880446
|
0.00100
|
NM_176824.3(BBS7):c.*353G>A
|
rs570995801
|
0.00100
|
NM_017950.4(CCDC40):c.850G>C (p.Asp284His)
|
rs201042940
|
0.00099
|
NM_170784.3(MKKS):c.-384C>T
|
rs568811798
|
0.00099
|
NM_020779.4(WDR35):c.*1006G>A
|
rs80292673
|
0.00098
|
NM_020779.4(WDR35):c.*1668A>C
|
rs191316348
|
0.00098
|
NM_020779.4(WDR35):c.437-13T>C
|
rs367802842
|
0.00098
|
NM_024753.5(TTC21B):c.*460T>C
|
rs537286454
|
0.00098
|
NM_001369.3(DNAH5):c.88C>T (p.Arg30Trp)
|
rs114220185
|
0.00096
|
NM_015102.5(NPHP4):c.2203C>T (p.Arg735Trp)
|
rs191913664
|
0.00096
|
NM_018718.3(CEP41):c.*4244C>G
|
rs544508687
|
0.00096
|
NM_024753.4(TTC21B):c.-91T>C
|
rs772121352
|
0.00096
|
NM_024753.5(TTC21B):c.3874-14T>C
|
rs200347449
|
0.00096
|
NM_020779.4(WDR35):c.770T>C (p.Val257Ala)
|
rs142955097
|
0.00095
|
NM_006642.5(SDCCAG8):c.572C>T (p.Thr191Ile)
|
rs150070966
|
0.00094
|
NM_012472.6(DNAAF11):c.*193A>G
|
rs139222648
|
0.00094
|
NM_014714.4(IFT140):c.1824A>G (p.Thr608=)
|
rs35433680
|
0.00094
|
NM_015272.5(RPGRIP1L):c.1156A>G (p.Lys386Glu)
|
rs137982921
|
0.00094
|
NM_020779.4(WDR35):c.507A>G (p.Lys169=)
|
rs200495720
|
0.00094
|
NM_198525.3(KIF7):c.3960T>A (p.Pro1320=)
|
rs141028210
|
0.00094
|
NM_012472.6(DNAAF11):c.31C>T (p.Arg11Trp)
|
rs115536785
|
0.00093
|
NM_020779.4(WDR35):c.2678T>C (p.Leu893Ser)
|
rs151047156
|
0.00093
|
NM_024685.4(BBS10):c.*955T>C
|
rs141408782
|
0.00093
|
NM_024685.4(BBS10):c.1545T>C (p.Asp515=)
|
rs77565309
|
0.00093
|
NM_147127.5(EVC2):c.92T>C (p.Leu31Pro)
|
rs557830930
|
0.00093
|
NM_178452.6(DNAAF1):c.1750G>A (p.Asp584Asn)
|
rs142345677
|
0.00093
|
NM_001277115.2(DNAH11):c.9773A>G (p.Tyr3258Cys)
|
rs182808328
|
0.00092
|
NM_018719.5(CDCA7L):c.*1006A>G
|
rs573090758
|
0.00092
|
NM_023036.6(DNAI2):c.197G>T (p.Arg66Leu)
|
rs147470752
|
0.00092
|
NM_001369.3(DNAH5):c.*1613G>A
|
rs763635720
|
0.00091
|
NM_024753.4(TTC21B):c.-107C>T
|
rs545898884
|
0.00091
|
NM_025114.4(CEP290):c.4806G>A (p.Thr1602=)
|
rs201614215
|
0.00091
|
NM_031427.4(DNAL1):c.*2923dup
|
rs568527612
|
0.00091
|
NM_001377.3(DYNC2H1):c.6047A>G (p.Tyr2016Cys)
|
rs200190291
|
0.00090
|
NM_001384732.1(CPLANE1):c.4517A>G (p.His1506Arg)
|
rs141911199
|
0.00090
|
NM_001384732.1(CPLANE1):c.9454G>A (p.Gly3152Arg)
|
rs144081297
|
0.00090
|
NM_147127.5(EVC2):c.3272+7C>T
|
rs201048030
|
0.00090
|
NM_153717.3(EVC):c.*492G>A
|
rs530991301
|
0.00090
|
NM_020779.4(WDR35):c.2149A>G (p.Ile717Val)
|
rs144493712
|
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_001384732.1(CPLANE1):c.-151C>T
|
rs769827950
|
0.00088
|
NM_018139.3(DNAAF2):c.2176A>G (p.Thr726Ala)
|
rs80237479
|
0.00088
|
NM_018718.3(CEP41):c.*3541G>A
|
rs376434190
|
0.00088
|
NM_020800.3(IFT80):c.*108A>G
|
rs180992676
|
0.00088
|
NM_198428.3(BBS9):c.2646C>A (p.Leu882=)
|
rs61753527
|
0.00088
|
NM_001384732.1(CPLANE1):c.3828T>C (p.Leu1276=)
|
rs145520487
|
0.00087
|
NM_023036.6(DNAI2):c.754G>A (p.Val252Met)
|
rs140326154
|
0.00087
|
NM_001369.3(DNAH5):c.342C>T (p.Phe114=)
|
rs145920072
|
0.00086
|
NM_001377.3(DYNC2H1):c.1134+8A>G
|
rs138290301
|
0.00086
|
NM_014714.4(IFT140):c.4297C>T (p.Arg1433Cys)
|
rs141392067
|
0.00086
|
NM_017777.4(MKS1):c.27C>T (p.Asp9=)
|
rs369488349
|
0.00086
|
NM_031885.5(BBS2):c.1380C>T (p.Phe460=)
|
rs141046144
|
0.00086
|
NM_001369.3(DNAH5):c.6752C>T (p.Thr2251Met)
|
rs146392250
|
0.00085
|
NM_015272.5(RPGRIP1L):c.2240G>A (p.Arg747Gln)
|
rs142349647
|
0.00085
|
NM_153240.5(NPHP3):c.105G>A (p.Lys35=)
|
rs377060857
|
0.00085
|
NM_178452.6(DNAAF1):c.1354C>A (p.Pro452Thr)
|
rs145680314
|
0.00085
|
NM_015910.7(WDPCP):c.*327G>A
|
rs565212301
|
0.00084
|
NM_153717.3(EVC):c.2562-3C>T
|
rs375960614
|
0.00084
|
NM_001377.3(DYNC2H1):c.*211A>G
|
rs148091830
|
0.00083
|
NM_006642.5(SDCCAG8):c.-4G>A
|
rs113193158
|
0.00083
|
NM_017777.4(MKS1):c.857A>G (p.Asp286Gly)
|
rs151023718
|
0.00083
|
NM_018718.3(CEP41):c.*680G>A
|
rs146622910
|
0.00083
|
NM_033028.5(BBS4):c.*200C>T
|
rs191015723
|
0.00083
|
NM_147127.5(EVC2):c.904T>A (p.Phe302Ile)
|
rs138728350
|
0.00083
|
NM_147127.5(EVC2):c.913G>T (p.Ala305Ser)
|
rs150367317
|
0.00083
|
NM_018718.3(CEP41):c.*3856C>T
|
rs187532705
|
0.00082
|
NM_153717.3(EVC):c.*1976C>T
|
rs56333422
|
0.00082
|
NM_001277115.2(DNAH11):c.11374A>G (p.Ile3792Val)
|
rs201700629
|
0.00081
|
NM_001369.3(DNAH5):c.4373G>A (p.Arg1458Gln)
|
rs61747551
|
0.00081
|
NM_001377.3(DYNC2H1):c.10845G>A (p.Pro3615=)
|
rs187451323
|
0.00081
|
NM_001377.3(DYNC2H1):c.5695G>A (p.Val1899Ile)
|
rs150887098
|
0.00081
|
NM_012472.6(DNAAF11):c.719T>C (p.Leu240Ser)
|
rs147849568
|
0.00081
|
NM_014714.4(IFT140):c.758G>A (p.Arg253Gln)
|
rs141993139
|
0.00081
|
NM_023036.6(DNAI2):c.1715C>T (p.Pro572Leu)
|
rs151241589
|
0.00081
|
NM_198428.3(BBS9):c.2086G>A (p.Asp696Asn)
|
rs117543061
|
0.00081
|
NM_001277115.2(DNAH11):c.13049+15C>T
|
rs200860431
|
0.00080
|
NM_001277115.2(DNAH11):c.13548G>A (p.Ala4516=)
|
rs147454485
|
0.00080
|
NM_018718.3(CEP41):c.*4908G>A
|
rs552988501
|
0.00080
|
NM_178452.6(DNAAF1):c.546C>G (p.Asn182Lys)
|
rs144018942
|
0.00080
|
NM_001277115.2(DNAH11):c.12632C>T (p.Pro4211Leu)
|
rs142585703
|
0.00079
|
NM_001369.3(DNAH5):c.1090-14G>T
|
rs150627172
|
0.00079
|
NM_014714.4(IFT140):c.1788T>C (p.Asp596=)
|
rs148904634
|
0.00079
|
NM_015272.5(RPGRIP1L):c.*1510G>A
|
rs140374059
|
0.00079
|
NM_025132.4(WDR19):c.1198C>T (p.Leu400=)
|
rs199765304
|
0.00079
|
NM_014714.4(IFT140):c.*403G>A
|
rs143732634
|
0.00078
|
NM_015102.5(NPHP4):c.2820G>A (p.Ala940=)
|
rs35575973
|
0.00078
|
NM_170784.3(MKKS):c.-618C>T
|
rs146473397
|
0.00078
|
NM_001377.3(DYNC2H1):c.2550G>A (p.Leu850=)
|
rs375307767
|
0.00077
|
NM_014714.4(IFT140):c.1083C>T (p.Pro361=)
|
rs143014223
|
0.00077
|
NM_001134831.2(AHI1):c.*1146T>A
|
rs557989991
|
0.00076
|
NM_001384732.1(CPLANE1):c.1883G>A (p.Arg628Lys)
|
rs74975451
|
0.00076
|
NM_001384732.1(CPLANE1):c.4403C>G (p.Ser1468Cys)
|
rs150556877
|
0.00076
|
NM_017950.4(CCDC40):c.2958C>T (p.Leu986=)
|
rs78945041
|
0.00076
|
NM_018718.3(CEP41):c.*3741A>T
|
rs532169706
|
0.00076
|
NM_198428.3(BBS9):c.-429G>C
|
rs184271281
|
0.00076
|
NM_198428.3(BBS9):c.2470C>T (p.Arg824Cys)
|
rs146752751
|
0.00076
|
NM_001044385.3(TMEM237):c.*258del
|
rs558670305
|
0.00075
|
NM_001277115.2(DNAH11):c.4202A>G (p.Gln1401Arg)
|
rs199629774
|
0.00074
|
NM_015102.5(NPHP4):c.2257G>A (p.Asp753Asn)
|
rs148424288
|
0.00074
|
NM_033028.5(BBS4):c.*691G>A
|
rs192812230
|
0.00074
|
NM_213607.2(CCDC103):c.-141C>T
|
rs546976256
|
0.00074
|
NM_213607.3(CCDC103):c.-131C>A
|
rs558940643
|
0.00074
|
NM_001082538.3(TCTN1):c.298G>A (p.Val100Met)
|
rs145478892
|
0.00073
|
NM_001199397.3(NEK1):c.*658A>G
|
rs185294844
|
0.00073
|
NM_020779.4(WDR35):c.853A>T (p.Ile285Phe)
|
rs200059077
|
0.00073
|
NM_024685.4(BBS10):c.*632T>C
|
rs78402495
|
0.00073
|
NM_033028.5(BBS4):c.-14T>A
|
rs146238636
|
0.00073
|
NM_006642.5(SDCCAG8):c.-130C>A
|
rs547776191
|
0.00072
|
NM_024685.4(BBS10):c.765G>A (p.Met255Ile)
|
rs139658279
|
0.00072
|
NM_001082538.3(TCTN1):c.1291G>C (p.Val431Leu)
|
rs188817098
|
0.00071
|
NM_019892.6(INPP5E):c.*630G>A
|
rs539039743
|
0.00071
|
NM_024753.5(TTC21B):c.691A>T (p.Thr231Ser)
|
rs149925563
|
0.00071
|
NM_153717.3(EVC):c.*994C>T
|
rs547970729
|
0.00071
|
NM_001277115.2(DNAH11):c.695C>T (p.Pro232Leu)
|
rs200454446
|
0.00070
|
NM_001369.3(DNAH5):c.10367C>T (p.Ala3456Val)
|
rs149956015
|
0.00070
|
NM_001369.3(DNAH5):c.4509C>T (p.Thr1503=)
|
rs138157585
|
0.00070
|
NM_001369.3(DNAH5):c.8224+15G>A
|
rs148099176
|
0.00070
|
NM_015102.5(NPHP4):c.-90A>T
|
rs527962872
|
0.00070
|
NM_020800.2(IFT80):c.-183C>T
|
rs545378240
|
0.00070
|
NM_024809.5(TCTN2):c.776A>G (p.Gln259Arg)
|
rs151318349
|
0.00070
|
NM_198428.3(BBS9):c.-397G>A
|
rs561901329
|
0.00070
|
NM_001277115.2(DNAH11):c.11277C>G (p.Ile3759Met)
|
rs202148932
|
0.00069
|
NM_001277115.2(DNAH11):c.2166A>G (p.Pro722=)
|
rs191266255
|
0.00069
|
NM_001277115.2(DNAH11):c.7266+5G>A
|
rs149364992
|
0.00069
|
NM_001277115.2(DNAH11):c.9939G>A (p.Val3313=)
|
rs200349268
|
0.00069
|
NM_001377.3(DYNC2H1):c.3170G>A (p.Arg1057His)
|
rs191381310
|
0.00069
|
NM_006642.5(SDCCAG8):c.267T>C (p.Ser89=)
|
rs148818431
|
0.00069
|
NM_152618.3(BBS12):c.*185T>C
|
rs545226235
|
0.00069
|
NM_152618.3(BBS12):c.1207G>A (p.Val403Met)
|
rs78000298
|
0.00069
|
NM_006642.5(SDCCAG8):c.1474-6C>T
|
rs376414138
|
0.00068
|
NM_012210.4(TRIM32):c.*84A>C
|
rs571526516
|
0.00068
|
NM_015102.5(NPHP4):c.2965G>A (p.Glu989Lys)
|
rs116606479
|
0.00068
|
NM_015272.5(RPGRIP1L):c.*1309C>A
|
rs145688896
|
0.00068
|
NM_018139.3(DNAAF2):c.731C>A (p.Ala244Glu)
|
rs112700048
|
0.00068
|
NM_020779.4(WDR35):c.*2620G>A
|
rs545271105
|
0.00068
|
NM_024809.5(TCTN2):c.888G>A (p.Pro296=)
|
rs116845100
|
0.00068
|
NM_170784.3(MKKS):c.67A>G (p.Arg23Gly)
|
rs147545395
|
0.00068
|
NM_001199397.3(NEK1):c.-52T>C
|
rs771331236
|
0.00067
|
NM_001199397.3(NEK1):c.277A>G (p.Asn93Asp)
|
rs201350526
|
0.00067
|
NM_001278293.3(ARL6):c.*470G>A
|
rs184213166
|
0.00067
|
NM_001369.3(DNAH5):c.1715T>G (p.Leu572Trp)
|
rs137878131
|
0.00067
|
NM_001378615.1(CC2D2A):c.2326G>A (p.Gly776Arg)
|
rs200764366
|
0.00067
|
NM_153717.3(EVC):c.2322G>C (p.Ala774=)
|
rs150373930
|
0.00067
|
NM_001082538.3(TCTN1):c.488C>A (p.Ser163Tyr)
|
rs117896500
|
0.00066
|
NM_015102.5(NPHP4):c.4141-11C>T
|
rs139203183
|
0.00066
|
NM_017950.4(CCDC40):c.*220C>T
|
rs538221665
|
0.00066
|
NM_020779.4(WDR35):c.*2797G>A
|
rs528776835
|
0.00066
|
NM_023036.6(DNAI2):c.1572G>A (p.Lys524=)
|
rs2279122
|
0.00066
|
NM_024649.5(BBS1):c.616T>G (p.Leu206Val)
|
rs146052054
|
0.00066
|
NM_153240.5(NPHP3):c.2769C>T (p.Phe923=)
|
rs116174472
|
0.00066
|
NM_153717.3(EVC):c.2449+12C>G
|
rs751678723
|
0.00066
|
NM_198428.3(BBS9):c.2258A>T (p.Glu753Val)
|
rs61764068
|
0.00066
|
NM_012210.4(TRIM32):c.*229C>T
|
rs770788386
|
0.00065
|
NM_025132.4(WDR19):c.3416A>G (p.Gln1139Arg)
|
rs75621037
|
0.00065
|
NM_153240.5(NPHP3):c.3756C>G (p.Ser1252Arg)
|
rs143451766
|
0.00065
|
NM_001377.3(DYNC2H1):c.5449A>G (p.Met1817Val)
|
rs200208000
|
0.00064
|
NM_001394148.2(LOC128706665):c.132T>G (p.Ile44Met)
|
rs554863155
|
0.00064
|
NM_001394148.2(LOC128706665):c.133C>A (p.Pro45Thr)
|
rs536112369
|
0.00064
|
NM_015102.5(NPHP4):c.2557G>T (p.Asp853Tyr)
|
rs199875059
|
0.00064
|
NM_015681.6(B9D1):c.*58G>A
|
rs534428777
|
0.00064
|
NM_020779.4(WDR35):c.*2619C>T
|
rs565144558
|
0.00064
|
NM_025114.4(CEP290):c.1670G>A (p.Arg557His)
|
rs184018899
|
0.00064
|
NM_025132.4(WDR19):c.2608G>A (p.Asp870Asn)
|
rs201963605
|
0.00064
|
NM_144596.4(TTC8):c.1327C>T (p.Arg443Trp)
|
rs140698625
|
0.00064
|
NM_198525.3(KIF7):c.*238C>T
|
rs555507825
|
0.00064
|
NM_001199397.3(NEK1):c.2137G>A (p.Val713Met)
|
rs199827465
|
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_024753.5(TTC21B):c.1697A>G (p.His566Arg)
|
rs146320075
|
0.00063
|
NM_033028.5(BBS4):c.1236A>T (p.Glu412Asp)
|
rs147202164
|
0.00063
|
NM_153240.5(NPHP3):c.*1176G>A
|
rs183658380
|
0.00063
|
NM_153240.5(NPHP3):c.*926C>T
|
rs570076170
|
0.00063
|
NM_001199397.3(NEK1):c.686A>G (p.Tyr229Cys)
|
rs61737748
|
0.00062
|
NM_006642.5(SDCCAG8):c.1409A>G (p.Glu470Gly)
|
rs118064970
|
0.00062
|
NM_017950.4(CCDC40):c.2968G>A (p.Asp990Asn)
|
rs200958035
|
0.00062
|
NM_198525.3(KIF7):c.2237G>A (p.Arg746Gln)
|
rs151317163
|
0.00062
|
NM_001277115.2(DNAH11):c.11402C>G (p.Pro3801Arg)
|
rs146362213
|
0.00061
|
NM_001378615.1(CC2D2A):c.2161C>T (p.Pro721Ser)
|
rs199768782
|
0.00061
|
NM_015102.5(NPHP4):c.2259C>T (p.Asp753=)
|
rs199628481
|
0.00061
|
NM_015102.5(NPHP4):c.4114C>T (p.Leu1372=)
|
rs374146357
|
0.00061
|
NM_015272.5(RPGRIP1L):c.3706C>T (p.Arg1236Cys)
|
rs151332923
|
0.00061
|
NM_016464.4(TMEM138):c.-255C>T
|
rs112115349
|
0.00061
|
NM_018139.3(DNAAF2):c.423C>T (p.Val141=)
|
rs373251065
|
0.00061
|
NM_019892.6(INPP5E):c.813-8C>T
|
rs373176644
|
0.00061
|
NM_031885.5(BBS2):c.126T>G (p.Ile42Met)
|
rs139945733
|
0.00061
|
NM_153240.5(NPHP3):c.*141T>C
|
rs538987591
|
0.00061
|
NM_153717.3(EVC):c.*263T>C
|
rs575488876
|
0.00061
|
NM_001384732.1(CPLANE1):c.8462-1G>C
|
rs151279194
|
0.00060
|
NM_015272.5(RPGRIP1L):c.251G>A (p.Arg84Gln)
|
rs151212590
|
0.00060
|
NM_147127.5(EVC2):c.3431G>A (p.Ser1144Asn)
|
rs200609501
|
0.00060
|
NM_153240.5(NPHP3):c.*519C>T
|
rs3891704
|
0.00060
|
NM_176824.3(BBS7):c.171G>A (p.Val57=)
|
rs144525608
|
0.00060
|
NM_001369.3(DNAH5):c.1121T>C (p.Ile374Thr)
|
rs147499872
|
0.00059
|
NM_001377.3(DYNC2H1):c.12039+15A>G
|
rs184350782
|
0.00059
|
NM_001378615.1(CC2D2A):c.355T>C (p.Leu119=)
|
rs202150325
|
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_144596.4(TTC8):c.*83A>G
|
rs147325843
|
0.00059
|
NM_144596.4(TTC8):c.330-15T>A
|
rs187484893
|
0.00059
|
NM_001369.3(DNAH5):c.13175T>G (p.Phe4392Cys)
|
rs145400611
|
0.00058
|
NM_012472.6(DNAAF11):c.1245A>G (p.Lys415=)
|
rs149631064
|
0.00058
|
NM_015102.4(NPHP4):c.-235G>A
|
rs765435500
|
0.00058
|
NM_024753.5(TTC21B):c.*847A>C
|
rs138656848
|
0.00058
|
NM_025114.4(CEP290):c.7186G>T (p.Asp2396Tyr)
|
rs189556433
|
0.00058
|
NM_198525.3(KIF7):c.2077G>T (p.Val693Phe)
|
rs550326630
|
0.00058
|
NM_001369.3(DNAH5):c.12500-11G>A
|
rs200056509
|
0.00057
|
NM_001377.3(DYNC2H1):c.7143A>G (p.Val2381=)
|
rs79832792
|
0.00057
|
NM_001378615.1(CC2D2A):c.*45G>C
|
rs372449768
|
0.00057
|
NM_015102.5(NPHP4):c.7G>T (p.Asp3Tyr)
|
rs145078518
|
0.00057
|
NM_015272.5(RPGRIP1L):c.*1584G>T
|
rs151226475
|
0.00057
|
NM_019892.6(INPP5E):c.469G>T (p.Gly157Trp)
|
rs78211353
|
0.00057
|
NM_024649.5(BBS1):c.*219A>G
|
rs74451472
|
0.00057
|
NM_181426.2(CCDC39):c.900T>A (p.His300Gln)
|
rs201684898
|
0.00057
|
NM_001369.3(DNAH5):c.5643G>A (p.Thr1881=)
|
rs150429110
|
0.00056
|
NM_001378615.1(CC2D2A):c.1041C>T (p.Asp347=)
|
rs371086728
|
0.00056
|
NM_018139.3(DNAAF2):c.263G>A (p.Cys88Tyr)
|
rs549457480
|
0.00056
|
NM_020779.4(WDR35):c.*487C>T
|
rs116951767
|
0.00056
|
NM_024753.5(TTC21B):c.3932G>A (p.Arg1311His)
|
rs139327086
|
0.00056
|
NM_025132.4(WDR19):c.3008A>G (p.Glu1003Gly)
|
rs201354264
|
0.00056
|
NM_153240.4(NPHP3):c.-70C>T
|
rs886058006
|
0.00056
|
NM_153704.6(TMEM67):c.*690T>A
|
rs535033320
|
0.00056
|
NM_198428.3(BBS9):c.*589G>A
|
rs548920550
|
0.00056
|
NM_001377.3(DYNC2H1):c.4312T>C (p.Leu1438=)
|
rs367841359
|
0.00055
|
NM_025114.4(CEP290):c.2306T>C (p.Ile769Thr)
|
rs199583200
|
0.00055
|
NM_153717.3(EVC):c.*1592C>T
|
rs193184679
|
0.00055
|
NM_017777.4(MKS1):c.1498A>G (p.Met500Val)
|
rs144635826
|
0.00054
|
NM_017950.4(CCDC40):c.2226C>T (p.Ser742=)
|
rs72849355
|
0.00054
|
NM_019892.6(INPP5E):c.*747T>C
|
rs191248562
|
0.00054
|
NM_024753.5(TTC21B):c.3797C>T (p.Pro1266Leu)
|
rs140384742
|
0.00054
|
NM_025114.4(CEP290):c.1092T>G (p.Ile364Met)
|
rs201988582
|
0.00054
|
NM_147127.5(EVC2):c.2060G>A (p.Arg687His)
|
rs144420242
|
0.00054
|
NM_153240.5(NPHP3):c.3281G>A (p.Arg1094Gln)
|
rs146890274
|
0.00054
|
NM_178452.6(DNAAF1):c.1300G>A (p.Gly434Arg)
|
rs117114021
|
0.00054
|
NM_001378615.1(CC2D2A):c.3046G>A (p.Glu1016Lys)
|
rs373960465
|
0.00053
|
NM_001384732.1(CPLANE1):c.*18G>T
|
rs200332492
|
0.00053
|
NM_012144.4(DNAI1):c.370C>T (p.Arg124Cys)
|
rs116938457
|
0.00053
|
NM_025132.4(WDR19):c.3918-6A>C
|
rs199546190
|
0.00053
|
NM_198428.3(BBS9):c.2363C>T (p.Ser788Phe)
|
rs61753526
|
0.00053
|
NM_001173990.3(TMEM216):c.140T>C (p.Val47Ala)
|
rs762918371
|
0.00052
|
NM_001369.3(DNAH5):c.3777G>A (p.Ala1259=)
|
rs144893234
|
0.00052
|
NM_001369.3(DNAH5):c.6956C>T (p.Thr2319Met)
|
rs144983881
|
0.00052
|
NM_001377.3(DYNC2H1):c.1774C>T (p.Leu592Phe)
|
rs180861816
|
0.00052
|
NM_015102.5(NPHP4):c.3181G>A (p.Val1061Ile)
|
rs143020939
|
0.00052
|
NM_015272.5(RPGRIP1L):c.3562G>A (p.Val1188Met)
|
rs142317242
|
0.00052
|
NM_015910.7(WDPCP):c.1315G>A (p.Val439Ile)
|
rs199676595
|
0.00052
|
NM_018139.3(DNAAF2):c.1463G>A (p.Gly488Glu)
|
rs200121200
|
0.00052
|
NM_018139.3(DNAAF2):c.1595A>G (p.Glu532Gly)
|
rs143210369
|
0.00052
|
NM_177976.3(ARL6):c.-375C>T
|
rs536935620
|
0.00052
|
NM_001044385.3(TMEM237):c.*1655G>A
|
rs1020619947
|
0.00051
|
NM_001082538.3(TCTN1):c.934G>A (p.Val312Ile)
|
rs118057448
|
0.00051
|
NM_001082538.3(TCTN1):c.960C>T (p.Cys320=)
|
rs145970332
|
0.00051
|
NM_001377.3(DYNC2H1):c.33C>T (p.Leu11=)
|
rs373977008
|
0.00051
|
NM_001377.3(DYNC2H1):c.4192A>C (p.Arg1398=)
|
rs371259464
|
0.00051
|
NM_006642.5(SDCCAG8):c.348C>T (p.His116=)
|
rs143226730
|
0.00051
|
NM_012210.4(TRIM32):c.276C>T (p.Ser92=)
|
rs140589523
|
0.00051
|
NM_014714.4(IFT140):c.*153C>T
|
rs760987640
|
0.00051
|
NM_018718.3(CEP41):c.*2481T>A
|
rs528289176
|
0.00051
|
NM_020779.4(WDR35):c.1072G>A (p.Val358Ile)
|
rs151227688
|
0.00051
|
NM_020800.3(IFT80):c.*417A>G
|
rs778131263
|
0.00051
|
NM_020800.3(IFT80):c.60G>A (p.Val20=)
|
rs201088893
|
0.00051
|
NM_025132.4(WDR19):c.490G>A (p.Val164Ile)
|
rs199514431
|
0.00051
|
NM_153717.3(EVC):c.569G>T (p.Arg190Leu)
|
rs113002470
|
0.00051
|
NM_001369.3(DNAH5):c.1198G>A (p.Val400Met)
|
rs144575803
|
0.00050
|
NM_001377.3(DYNC2H1):c.9865G>C (p.Glu3289Gln)
|
rs200326353
|
0.00050
|
NM_014714.4(IFT140):c.3988G>A (p.Ala1330Thr)
|
rs200699325
|
0.00050
|
NM_015102.5(NPHP4):c.1966G>A (p.Asp656Asn)
|
rs191602135
|
0.00050
|
NM_015910.7(WDPCP):c.-113C>A
|
rs192963932
|
0.00050
|
NM_020800.3(IFT80):c.*887T>C
|
rs537207877
|
0.00050
|
NM_023036.6(DNAI2):c.1533G>T (p.Glu511Asp)
|
rs150710001
|
0.00050
|
NM_024753.5(TTC21B):c.1650A>G (p.Glu550=)
|
rs145926679
|
0.00050
|
NM_033028.5(BBS4):c.*36G>A
|
rs376830638
|
0.00050
|
NM_153240.5(NPHP3):c.*437C>T
|
rs539230132
|
0.00050
|
NM_178452.6(DNAAF1):c.1495C>A (p.Pro499Thr)
|
rs201519478
|
0.00050
|
NM_001277115.2(DNAH11):c.7294C>T (p.Arg2432Trp)
|
rs188615176
|
0.00049
|
NM_012210.4(TRIM32):c.-109T>C
|
rs886063378
|
0.00049
|
NM_018139.3(DNAAF2):c.1584T>A (p.Asn528Lys)
|
rs144077436
|
0.00049
|
NM_153717.3(EVC):c.*709T>C
|
rs183727253
|
0.00049
|
NM_178452.6(DNAAF1):c.685C>T (p.His229Tyr)
|
rs35496754
|
0.00049
|
NM_001277115.2(DNAH11):c.10472G>A (p.Arg3491His)
|
rs370932895
|
0.00048
|
NM_001369.3(DNAH5):c.1882T>G (p.Leu628Val)
|
rs143745645
|
0.00048
|
NM_001384732.1(CPLANE1):c.4793C>A (p.Thr1598Lys)
|
rs147588579
|
0.00048
|
NM_014714.4(IFT140):c.1593G>T (p.Gly531=)
|
rs143491016
|
0.00048
|
NM_015272.5(RPGRIP1L):c.-62C>T
|
rs562413151
|
0.00048
|
NM_017950.4(CCDC40):c.*202T>C
|
rs539904864
|
0.00048
|
NM_018718.3(CEP41):c.*2896G>A
|
rs147207980
|
0.00048
|
NM_024753.5(TTC21B):c.880G>T (p.Ala294Ser)
|
rs141240501
|
0.00048
|
NM_152618.3(BBS12):c.1859A>G (p.Gln620Arg)
|
rs139278612
|
0.00048
|
NM_153717.3(EVC):c.*3161A>C
|
rs550678702
|
0.00048
|
NM_001277115.2(DNAH11):c.13050-12C>T
|
rs187048874
|
0.00047
|
NM_001277115.2(DNAH11):c.8888C>A (p.Ser2963Tyr)
|
rs374033085
|
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_024753.5(TTC21B):c.*516C>T
|
rs185578095
|
0.00047
|
NM_001082538.3(TCTN1):c.327A>G (p.Ser109=)
|
rs140230455
|
0.00046
|
NM_001277115.2(DNAH11):c.7553T>C (p.Val2518Ala)
|
rs141807661
|
0.00046
|
NM_001369.3(DNAH5):c.*445G>A
|
rs139979856
|
0.00046
|
NM_001369.3(DNAH5):c.3534C>T (p.Asn1178=)
|
rs151274810
|
0.00046
|
NM_001369.3(DNAH5):c.8268A>C (p.Ser2756=)
|
rs775185371
|
0.00046
|
NM_001369.3(DNAH5):c.8960A>T (p.Asn2987Ile)
|
rs149489069
|
0.00046
|
NM_001384732.1(CPLANE1):c.8678C>T (p.Pro2893Leu)
|
rs147426388
|
0.00046
|
NM_006642.5(SDCCAG8):c.778C>G (p.Leu260Val)
|
rs201869920
|
0.00046
|
NM_012144.4(DNAI1):c.389-1G>C
|
rs200488444
|
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_024809.5(TCTN2):c.635A>G (p.Asn212Ser)
|
rs139927033
|
0.00046
|
NM_147127.5(EVC2):c.1452G>A (p.Leu484=)
|
rs137884710
|
0.00046
|
NM_153240.5(NPHP3):c.*1121A>G
|
rs576904017
|
0.00046
|
NM_153704.6(TMEM67):c.369C>T (p.Ala123=)
|
rs115640152
|
0.00046
|
NM_181426.2(CCDC39):c.1818T>C (p.His606=)
|
rs199503571
|
0.00046
|
NM_001023570.4(IQCB1):c.877-11C>T
|
rs192296154
|
0.00045
|
NM_001044385.3(TMEM237):c.*2960C>A
|
rs188637429
|
0.00045
|
NM_001369.3(DNAH5):c.*427G>A
|
rs564203224
|
0.00045
|
NM_001384732.1(CPLANE1):c.7920C>T (p.Ser2640=)
|
rs141486731
|
0.00045
|
NM_014714.4(IFT140):c.491+7G>A
|
rs187521755
|
0.00045
|
NM_020779.4(WDR35):c.1051C>G (p.Pro351Ala)
|
rs140753861
|
0.00045
|
NM_020779.4(WDR35):c.3026C>G (p.Thr1009Arg)
|
rs201153804
|
0.00045
|
NM_024685.4(BBS10):c.*106C>T
|
rs886049847
|
0.00045
|
NM_025114.3(CEP290):c.-235T>G
|
rs569632834
|
0.00045
|
NM_001369.3(DNAH5):c.917G>A (p.Ser306Asn)
|
rs144128250
|
0.00044
|
NM_001377.3(DYNC2H1):c.12082G>T (p.Gly4028Cys)
|
rs202216852
|
0.00044
|
NM_001384732.1(CPLANE1):c.8580C>T (p.Ala2860=)
|
rs145347771
|
0.00044
|
NM_018139.3(DNAAF2):c.1417C>T (p.Arg473Trp)
|
rs200327783
|
0.00044
|
NM_153717.3(EVC):c.*1069A>G
|
rs13147953
|
0.00044
|
NM_178452.6(DNAAF1):c.1299C>T (p.Asp433=)
|
rs141074491
|
0.00044
|
NM_001277115.2(DNAH11):c.5519C>T (p.Thr1840Ile)
|
rs374351807
|
0.00043
|
NM_001277115.2(DNAH11):c.569A>T (p.Tyr190Phe)
|
rs201793112
|
0.00043
|
NM_001377.3(DYNC2H1):c.1007C>T (p.Ala336Val)
|
rs182506343
|
0.00043
|
NM_001377.3(DYNC2H1):c.1350C>T (p.Asp450=)
|
rs190106816
|
0.00043
|
NM_001384732.1(CPLANE1):c.4954C>T (p.Leu1652=)
|
rs141109938
|
0.00043
|
NM_014714.4(IFT140):c.2067G>A (p.Ala689=)
|
rs143537808
|
0.00043
|
NM_014714.4(IFT140):c.3542C>T (p.Ser1181Leu)
|
rs145814071
|
0.00043
|
NM_014714.4(IFT140):c.3684C>T (p.Ser1228=)
|
rs146464282
|
0.00043
|
NM_023036.6(DNAI2):c.1380G>T (p.Val460=)
|
rs148947094
|
0.00043
|
NM_025132.4(WDR19):c.*106T>G
|
rs147600266
|
0.00043
|
NM_001173990.3(TMEM216):c.289T>A (p.Phe97Ile)
|
rs201614099
|
0.00042
|
NM_001277115.2(DNAH11):c.8521A>G (p.Ser2841Gly)
|
rs199789835
|
0.00042
|
NM_001377.3(DYNC2H1):c.3419G>T (p.Gly1140Val)
|
rs201043335
|
0.00042
|
NM_001378615.1(CC2D2A):c.*1T>A
|
rs199945435
|
0.00042
|
NM_001384732.1(CPLANE1):c.8175A>C (p.Ala2725=)
|
rs201122718
|
0.00042
|
NM_012472.6(DNAAF11):c.*73A>T
|
rs115309048
|
0.00042
|
NM_015102.5(NPHP4):c.2531C>T (p.Pro844Leu)
|
rs186014615
|
0.00042
|
NM_015272.5(RPGRIP1L):c.1085A>G (p.Tyr362Cys)
|
rs144023021
|
0.00042
|
NM_015910.7(WDPCP):c.220G>C (p.Gly74Arg)
|
rs200170138
|
0.00042
|
NM_016464.5(TMEM138):c.247A>G (p.Ile83Val)
|
rs200399046
|
0.00042
|
NM_018718.3(CEP41):c.*3097T>C
|
rs929238589
|
0.00042
|
NM_024685.4(BBS10):c.*947G>T
|
rs533206499
|
0.00042
|
NM_147127.5(EVC2):c.3468G>A (p.Leu1156=)
|
rs201460514
|
0.00042
|
NM_001044385.3(TMEM237):c.*2141C>T
|
rs147652455
|
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_001369.3(DNAH5):c.2578-7_2578-6del
|
rs1491199769
|
0.00041
|
NM_001377.3(DYNC2H1):c.6769G>A (p.Gly2257Ser)
|
rs199897162
|
0.00041
|
NM_001384732.1(CPLANE1):c.1116G>A (p.Thr372=)
|
rs551066377
|
0.00041
|
NM_001394148.2(LOC128706665):c.71A>G (p.His24Arg)
|
rs145467994
|
0.00041
|
NM_012144.4(DNAI1):c.-41T>C
|
rs200245894
|
0.00041
|
NM_015102.5(NPHP4):c.1850C>T (p.Ala617Val)
|
rs190522911
|
0.00041
|
NM_017777.4(MKS1):c.*134C>T
|
rs34224064
|
0.00041
|
NM_017777.4(MKS1):c.544G>A (p.Val182Ile)
|
rs200185068
|
0.00041
|
NM_025132.4(WDR19):c.13+15G>A
|
rs150633358
|
0.00041
|
NM_153704.6(TMEM67):c.*941T>C
|
rs112317911
|
0.00041
|
NM_153717.3(EVC):c.*2310G>A
|
rs539844915
|
0.00041
|
NM_176824.3(BBS7):c.*1526C>T
|
rs546122158
|
0.00041
|
NM_178452.6(DNAAF1):c.1698+1G>A
|
rs139519641
|
0.00041
|
NM_198428.3(BBS9):c.*29A>G
|
rs373446119
|
0.00041
|
NM_001023570.4(IQCB1):c.782T>G (p.Leu261Arg)
|
rs199959360
|
0.00040
|
NM_001369.3(DNAH5):c.962C>T (p.Ser321Leu)
|
rs201077964
|
0.00040
|
NM_012210.4(TRIM32):c.-124G>A
|
rs752864284
|
0.00040
|
NM_014714.4(IFT140):c.*235C>A
|
rs184405274
|
0.00040
|
NM_018718.3(CEP41):c.*1385T>G
|
rs781845516
|
0.00040
|
NM_025114.4(CEP290):c.1360-4T>G
|
rs200328638
|
0.00040
|
NM_033028.5(BBS4):c.24+8C>T
|
rs200055760
|
0.00040
|
NM_153240.5(NPHP3):c.3717G>A (p.Leu1239=)
|
rs146759786
|
0.00040
|
NM_001010892.3(RSPH4A):c.584C>G (p.Pro195Arg)
|
rs141226759
|
0.00039
|
NM_001044385.3(TMEM237):c.*3517A>G
|
rs563749617
|
0.00039
|
NM_001128178.3(NPHP1):c.801G>A (p.Thr267=)
|
rs141763330
|
0.00039
|
NM_001277115.2(DNAH11):c.5671C>T (p.Pro1891Ser)
|
rs201704416
|
0.00039
|
NM_001277115.2(DNAH11):c.9449G>A (p.Arg3150Gln)
|
rs181785201
|
0.00039
|
NM_001369.3(DNAH5):c.11476C>T (p.Leu3826Phe)
|
rs146750552
|
0.00039
|
NM_001369.3(DNAH5):c.13125+10T>A
|
rs2277047
|
0.00039
|
NM_001369.3(DNAH5):c.13778C>T (p.Thr4593Met)
|
rs142036266
|
0.00039
|
NM_001369.3(DNAH5):c.4525G>A (p.Val1509Met)
|
rs140345677
|
0.00039
|
NM_001377.3(DYNC2H1):c.2244C>T (p.His748=)
|
rs373707570
|
0.00039
|
NM_001384732.1(CPLANE1):c.6860G>A (p.Ser2287Asn)
|
rs147451628
|
0.00039
|
NM_012210.4(TRIM32):c.292C>A (p.Leu98Ile)
|
rs201877419
|
0.00039
|
NM_015272.5(RPGRIP1L):c.*270G>A
|
rs549065732
|
0.00039
|
NM_015910.7(WDPCP):c.83A>T (p.Asp28Val)
|
rs144703991
|
0.00039
|
NM_020800.3(IFT80):c.1883G>A (p.Arg628Gln)
|
rs150370681
|
0.00039
|
NM_024809.5(TCTN2):c.571T>G (p.Ser191Ala)
|
rs146698907
|
0.00039
|
NM_025132.4(WDR19):c.*152G>A
|
rs533059483
|
0.00039
|
NM_153717.3(EVC):c.*858G>A
|
rs544337142
|
0.00039
|
NM_001199397.3(NEK1):c.3567C>T (p.Asn1189=)
|
rs200710438
|
0.00038
|
NM_001277115.2(DNAH11):c.727A>G (p.Ile243Val)
|
rs189000268
|
0.00038
|
NM_001377.3(DYNC2H1):c.5511C>T (p.Asp1837=)
|
rs201953670
|
0.00038
|
NM_006642.5(SDCCAG8):c.2067G>A (p.Leu689=)
|
rs191821211
|
0.00038
|
NM_006642.5(SDCCAG8):c.237T>A (p.Asp79Glu)
|
rs146474568
|
0.00038
|
NM_014714.4(IFT140):c.3693G>A (p.Thr1231=)
|
rs144028766
|
0.00038
|
NM_015102.5(NPHP4):c.3045-5C>T
|
rs2297790
|
0.00038
|
NM_017950.4(CCDC40):c.*17C>T
|
rs202179507
|
0.00038
|
NM_024809.5(TCTN2):c.*477G>A
|
rs147565143
|
0.00038
|
NM_153717.3(EVC):c.*198G>A
|
rs181401771
|
0.00038
|
NM_153717.3(EVC):c.1995G>A (p.Ser665=)
|
rs142897994
|
0.00038
|
NM_001134831.2(AHI1):c.3535G>T (p.Asp1179Tyr)
|
rs188583221
|
0.00037
|
NM_001369.3(DNAH5):c.2067T>C (p.His689=)
|
rs140630779
|
0.00037
|
NM_001369.3(DNAH5):c.3179A>T (p.Lys1060Met)
|
rs145672251
|
0.00037
|
NM_014714.4(IFT140):c.3861C>T (p.Asp1287=)
|
rs143899594
|
0.00037
|
NM_015272.5(RPGRIP1L):c.*532T>C
|
rs184520009
|
0.00037
|
NM_153717.3(EVC):c.*1256C>T
|
rs532180814
|
0.00037
|
NM_153717.3(EVC):c.*1599C>T
|
rs527297174
|
0.00037
|
NM_153717.3(EVC):c.2782+15C>G
|
rs373862588
|
0.00037
|
NM_153717.3(EVC):c.2805G>A (p.Arg935=)
|
rs143631233
|
0.00037
|
NM_001277115.2(DNAH11):c.6302A>G (p.Asn2101Ser)
|
rs201618995
|
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_001384732.1(CPLANE1):c.1736C>T (p.Ala579Val)
|
rs191239995
|
0.00036
|
NM_001384732.1(CPLANE1):c.9016A>G (p.Arg3006Gly)
|
rs116198390
|
0.00036
|
NM_006642.5(SDCCAG8):c.744C>T (p.Asn248=)
|
rs138449445
|
0.00036
|
NM_006642.5(SDCCAG8):c.798T>C (p.His266=)
|
rs74586093
|
0.00036
|
NM_012472.6(DNAAF11):c.1096A>G (p.Lys366Glu)
|
rs201309011
|
0.00036
|
NM_012472.6(DNAAF11):c.1391C>T (p.Pro464Leu)
|
rs139131485
|
0.00036
|
NM_017777.4(MKS1):c.515+12C>T
|
rs372527189
|
0.00036
|
NM_017950.4(CCDC40):c.*633C>G
|
rs117359231
|
0.00036
|
NM_020779.4(WDR35):c.*763T>C
|
rs560228088
|
0.00036
|
NM_023036.6(DNAI2):c.1574C>T (p.Ala525Val)
|
rs145602856
|
0.00036
|
NM_024753.5(TTC21B):c.2815C>T (p.Arg939Trp)
|
rs151227843
|
0.00036
|
NM_025114.4(CEP290):c.2479C>G (p.Leu827Val)
|
rs201569048
|
0.00036
|
NM_153240.5(NPHP3):c.2881C>G (p.Gln961Glu)
|
rs144989330
|
0.00036
|
NM_178452.6(DNAAF1):c.1506G>A (p.Pro502=)
|
rs373515859
|
0.00036
|
NM_001199397.3(NEK1):c.*107A>G
|
rs767808092
|
0.00035
|
NM_001277115.2(DNAH11):c.6274-5T>C
|
rs74365849
|
0.00035
|
NM_012472.6(DNAAF11):c.*5T>G
|
rs144068846
|
0.00035
|
NM_015102.5(NPHP4):c.3612G>A (p.Pro1204=)
|
rs374003717
|
0.00035
|
NM_016464.5(TMEM138):c.216C>T (p.Asn72=)
|
rs145939072
|
0.00035
|
NM_024649.5(BBS1):c.*1349T>C
|
rs752758324
|
0.00035
|
NM_198525.3(KIF7):c.3914G>A (p.Arg1305Gln)
|
rs138993311
|
0.00035
|
NM_001023570.4(IQCB1):c.-147del
|
rs886057829
|
0.00034
|
NM_001044385.3(TMEM237):c.475A>G (p.Thr159Ala)
|
rs199500256
|
0.00034
|
NM_001277115.2(DNAH11):c.1749T>A (p.Val583=)
|
rs368294823
|
0.00034
|
NM_001377.3(DYNC2H1):c.3665G>A (p.Gly1222Glu)
|
rs201194631
|
0.00034
|
NM_001377.3(DYNC2H1):c.8293T>G (p.Phe2765Val)
|
rs199503535
|
0.00034
|
NM_001378615.1(CC2D2A):c.1821T>C (p.Ile607=)
|
rs373296447
|
0.00034
|
NM_012144.4(DNAI1):c.1948C>T (p.Arg650Cys)
|
rs140820295
|
0.00034
|
NM_014714.4(IFT140):c.369+12C>T
|
rs192986766
|
0.00034
|
NM_015102.5(NPHP4):c.2485+9C>A
|
rs200952409
|
0.00034
|
NM_015102.5(NPHP4):c.3859C>G (p.Gln1287Glu)
|
rs201779243
|
0.00034
|
NM_015102.5(NPHP4):c.4034G>A (p.Gly1345Asp)
|
rs200407553
|
0.00034
|
NM_016464.4(TMEM138):c.-294G>A
|
rs775592054
|
0.00034
|
NM_017950.4(CCDC40):c.1248C>T (p.Arg416=)
|
rs375199947
|
0.00034
|
NM_017950.4(CCDC40):c.2892G>A (p.Ala964=)
|
rs146360951
|
0.00034
|
NM_024753.5(TTC21B):c.3223G>C (p.Val1075Leu)
|
rs34925776
|
0.00034
|
NM_025132.4(WDR19):c.3249T>C (p.Asp1083=)
|
rs371128500
|
0.00034
|
NM_031885.5(BBS2):c.1797+12C>T
|
rs370960689
|
0.00034
|
NM_031885.5(BBS2):c.2079G>A (p.Gln693=)
|
rs150797250
|
0.00034
|
NM_033028.5(BBS4):c.1414A>G (p.Met472Val)
|
rs2277596
|
0.00034
|
NM_147127.5(EVC2):c.1882G>A (p.Glu628Lys)
|
rs186197620
|
0.00034
|
NM_153240.5(NPHP3):c.2884-4C>G
|
rs185913426
|
0.00034
|
NM_153717.3(EVC):c.2712C>T (p.Ser904=)
|
rs146829332
|
0.00034
|
NM_181426.2(CCDC39):c.*147G>A
|
rs773632317
|
0.00034
|
NM_181426.2(CCDC39):c.1137T>C (p.Asp379=)
|
rs374132008
|
0.00034
|
NM_198428.3(BBS9):c.1245C>T (p.Val415=)
|
rs61764066
|
0.00034
|
NM_213607.3(CCDC103):c.104G>A (p.Arg35Gln)
|
rs587783065
|
0.00034
|
NM_001128178.3(NPHP1):c.1469G>A (p.Arg490Lys)
|
rs149887461
|
0.00033
|
NM_001369.3(DNAH5):c.894C>G (p.Asn298Lys)
|
rs116995413
|
0.00033
|
NM_001378615.1(CC2D2A):c.3399-15T>C
|
rs181612746
|
0.00033
|
NM_012472.6(DNAAF11):c.131G>A (p.Arg44Gln)
|
rs184555568
|
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_025132.4(WDR19):c.2364-15_2364-14del
|
rs555557314
|
0.00033
|
NM_153717.3(EVC):c.*2125T>G
|
rs139771274
|
0.00033
|
NM_001023570.4(IQCB1):c.-190C>T
|
rs145282757
|
0.00032
|
NM_001044385.3(TMEM237):c.*1008A>G
|
rs777244164
|
0.00032
|
NM_001369.3(DNAH5):c.13073G>A (p.Arg4358Gln)
|
rs144949095
|
0.00032
|
NM_012144.4(DNAI1):c.551A>G (p.Lys184Arg)
|
rs146203427
|
0.00032
|
NM_012210.4(TRIM32):c.*1411_*1414dup
|
rs758130716
|
0.00032
|
NM_012210.4(TRIM32):c.*177C>T
|
rs149956877
|
0.00032
|
NM_014714.4(IFT140):c.1360-14G>A
|
rs369246649
|
0.00032
|
NM_015272.5(RPGRIP1L):c.*1033G>A
|
rs145688122
|
0.00032
|
NM_016464.5(TMEM138):c.-157C>G
|
rs779029696
|
0.00032
|
NM_024685.4(BBS10):c.*529C>T
|
rs571517922
|
0.00032
|
NM_024753.5(TTC21B):c.*473C>G
|
rs763021259
|
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_198525.3(KIF7):c.516G>A (p.Glu172=)
|
rs199959946
|
0.00032
|
NM_001134831.2(AHI1):c.3418C>T (p.Pro1140Ser)
|
rs201148693
|
0.00031
|
NM_001277115.2(DNAH11):c.10692-7C>T
|
rs368833367
|
0.00031
|
NM_001277115.2(DNAH11):c.5132A>G (p.Gln1711Arg)
|
rs189432084
|
0.00031
|
NM_001369.3(DNAH5):c.11570+8T>C
|
rs369789559
|
0.00031
|
NM_001369.3(DNAH5):c.1631C>T (p.Thr544Ile)
|
rs118026202
|
0.00031
|
NM_001369.3(DNAH5):c.9549G>A (p.Gln3183=)
|
rs147865593
|
0.00031
|
NM_001369.3(DNAH5):c.9995G>A (p.Arg3332Lys)
|
rs138968139
|
0.00031
|
NM_001384732.1(CPLANE1):c.*833T>C
|
rs553022771
|
0.00031
|
NM_001384732.1(CPLANE1):c.5820+7C>T
|
rs185534019
|
0.00031
|
NM_001384732.1(CPLANE1):c.6443A>G (p.Asn2148Ser)
|
rs150999024
|
0.00031
|
NM_014714.4(IFT140):c.2586C>T (p.Ala862=)
|
rs148557575
|
0.00031
|
NM_015102.5(NPHP4):c.2115T>C (p.Pro705=)
|
rs200848754
|
0.00031
|
NM_015272.5(RPGRIP1L):c.171G>T (p.Leu57Phe)
|
rs146925098
|
0.00031
|
NM_017950.4(CCDC40):c.1479G>T (p.Arg493Ser)
|
rs201739201
|
0.00031
|
NM_019892.6(INPP5E):c.*811G>A
|
rs778109117
|
0.00031
|
NM_020779.4(WDR35):c.*1253C>G
|
rs368665906
|
0.00031
|
NM_020779.4(WDR35):c.2965-4G>T
|
rs199696980
|
0.00031
|
NM_020800.3(IFT80):c.*677A>G
|
rs141039735
|
0.00031
|
NM_024753.5(TTC21B):c.3914A>G (p.Asp1305Gly)
|
rs147540469
|
0.00031
|
NM_025114.4(CEP290):c.5185C>T (p.Arg1729Trp)
|
rs201353893
|
0.00031
|
NM_025132.4(WDR19):c.2239A>G (p.Ile747Val)
|
rs144335584
|
0.00031
|
NM_170784.3(MKKS):c.416G>A (p.Arg139Gln)
|
rs145045986
|
0.00031
|
NM_198428.3(BBS9):c.2460C>T (p.Ser820=)
|
rs142563811
|
0.00031
|
NM_198525.3(KIF7):c.2049G>A (p.Gly683=)
|
rs141856439
|
0.00031
|
NM_198525.3(KIF7):c.3665-5G>A
|
rs79532879
|
0.00031
|
NM_001134831.2(AHI1):c.2382A>G (p.Lys794=)
|
rs191682790
|
0.00030
|
NM_001377.3(DYNC2H1):c.8365T>C (p.Phe2789Leu)
|
rs184910011
|
0.00030
|
NM_006642.5(SDCCAG8):c.-121C>T
|
rs768318766
|
0.00030
|
NM_015272.5(RPGRIP1L):c.1682G>A (p.Arg561His)
|
rs147366111
|
0.00030
|
NM_018718.3(CEP41):c.*805A>G
|
rs145808545
|
0.00030
|
NM_020779.4(WDR35):c.*795C>T
|
rs190700326
|
0.00030
|
NM_020779.4(WDR35):c.2964+10C>A
|
rs201207790
|
0.00030
|
NM_025114.4(CEP290):c.4250A>G (p.Gln1417Arg)
|
rs201504946
|
0.00030
|
NM_025132.4(WDR19):c.929A>G (p.Tyr310Cys)
|
rs199783864
|
0.00030
|
NM_153717.3(EVC):c.-139G>A
|
rs779841092
|
0.00030
|
NM_198428.3(BBS9):c.*444G>A
|
rs75625812
|
0.00030
|
NM_001134831.2(AHI1):c.*793A>G
|
rs191324834
|
0.00029
|
NM_001134831.2(AHI1):c.2589G>A (p.Glu863=)
|
rs147279669
|
0.00029
|
NM_001277115.2(DNAH11):c.13305C>T (p.Gly4435=)
|
rs150682314
|
0.00029
|
NM_001277115.2(DNAH11):c.5152A>G (p.Ile1718Val)
|
rs137855415
|
0.00029
|
NM_001277115.2(DNAH11):c.794G>A (p.Arg265His)
|
rs192989152
|
0.00029
|
NM_001369.3(DNAH5):c.1126G>T (p.Ala376Ser)
|
rs201469505
|
0.00029
|
NM_001369.3(DNAH5):c.5413C>T (p.Arg1805Cys)
|
rs142155986
|
0.00029
|
NM_001369.3(DNAH5):c.9461A>C (p.Asp3154Ala)
|
rs149187750
|
0.00029
|
NM_001369.3(DNAH5):c.975+6C>T
|
rs151000177
|
0.00029
|
NM_001377.3(DYNC2H1):c.5335-11T>G
|
rs181963253
|
0.00029
|
NM_001378615.1(CC2D2A):c.2844G>A (p.Arg948=)
|
rs182369056
|
0.00029
|
NM_001384732.1(CPLANE1):c.7596A>G (p.Leu2532=)
|
rs201502145
|
0.00029
|
NM_017777.4(MKS1):c.368G>A (p.Arg123Gln)
|
rs202112856
|
0.00029
|
NM_017950.4(CCDC40):c.248del (p.Ala83fs)
|
rs397515393
|
0.00029
|
NM_019892.6(INPP5E):c.1191C>T (p.Ile397=)
|
rs558778286
|
0.00029
|
NM_023036.6(DNAI2):c.828G>A (p.Thr276=)
|
rs149918986
|
0.00029
|
NM_024649.5(BBS1):c.1695+10G>A
|
rs200276861
|
0.00029
|
NM_025114.4(CEP290):c.503G>A (p.Arg168His)
|
rs200063017
|
0.00029
|
NM_025132.4(WDR19):c.1566C>T (p.Pro522=)
|
rs200692490
|
0.00029
|
NM_033028.5(BBS4):c.*498T>C
|
rs187276976
|
0.00029
|
NM_033028.5(BBS4):c.1511C>T (p.Ala504Val)
|
rs150706579
|
0.00029
|
NM_176824.3(BBS7):c.1158A>G (p.Thr386=)
|
rs146617227
|
0.00029
|
NM_001199397.3(NEK1):c.*1222T>G
|
rs543801862
|
0.00028
|
NM_001256715.2(DNAAF3):c.*28A>C
|
rs201512228
|
0.00028
|
NM_001277115.2(DNAH11):c.8973G>A (p.Thr2991=)
|
rs200978576
|
0.00028
|
NM_001394148.2(LOC128706665):c.*130A>G
|
rs3748466
|
0.00028
|
NM_015102.5(NPHP4):c.3705C>T (p.Arg1235=)
|
rs199925943
|
0.00028
|
NM_016464.5(TMEM138):c.327C>T (p.Ser109=)
|
rs201318247
|
0.00028
|
NM_017950.4(CCDC40):c.1144G>A (p.Glu382Lys)
|
rs2289532
|
0.00028
|
NM_024753.5(TTC21B):c.1563C>T (p.His521=)
|
rs138294801
|
0.00028
|
NM_147127.5(EVC2):c.1886+11A>G
|
rs61218140
|
0.00028
|
NM_147127.5(EVC2):c.2416G>A (p.Val806Met)
|
rs138128087
|
0.00028
|
NM_001006657.2(WDR35):c.1226C>T (p.Thr409Met)
|
rs143430766
|
0.00027
|
NM_001044385.3(TMEM237):c.*987C>T
|
rs568084746
|
0.00027
|
NM_001277115.2(DNAH11):c.13309C>T (p.Arg4437Cys)
|
rs200466467
|
0.00027
|
NM_001278293.3(ARL6):c.-207G>A
|
rs189005414
|
0.00027
|
NM_001278293.3(ARL6):c.-71C>G
|
rs777066573
|
0.00027
|
NM_001378615.1(CC2D2A):c.2056G>A (p.Val686Met)
|
rs369476930
|
0.00027
|
NM_014714.4(IFT140):c.925G>A (p.Glu309Lys)
|
rs141993646
|
0.00027
|
NM_015102.5(NPHP4):c.257C>T (p.Pro86Leu)
|
rs201998215
|
0.00027
|
NM_019892.6(INPP5E):c.875G>A (p.Arg292His)
|
rs199873582
|
0.00027
|
NM_020779.4(WDR35):c.*1413C>T
|
rs567295822
|
0.00027
|
NM_033028.5(BBS4):c.*65G>A
|
rs576340233
|
0.00027
|
NM_153717.3(EVC):c.802-12C>T
|
rs61514191
|
0.00027
|
NM_181426.2(CCDC39):c.2557C>T (p.Arg853Cys)
|
rs201097154
|
0.00027
|
NM_198525.3(KIF7):c.*92C>T
|
rs549330096
|
0.00027
|
NM_000549.5(TSHB):c.256G>A (p.Gly86Arg)
|
rs190110651
|
0.00026
|
NM_001023570.3(IQCB1):c.-215C>T
|
rs541891117
|
0.00026
|
NM_001023570.4(IQCB1):c.*148T>C
|
rs190963373
|
0.00026
|
NM_001044385.3(TMEM237):c.439G>A (p.Val147Ile)
|
rs200531617
|
0.00026
|
NM_001199397.3(NEK1):c.3583+8A>C
|
rs192372022
|
0.00026
|
NM_001277115.2(DNAH11):c.6621T>A (p.Ala2207=)
|
rs574427839
|
0.00026
|
NM_001369.3(DNAH5):c.2431+5G>A
|
rs369244905
|
0.00026
|
NM_001369.3(DNAH5):c.4961G>A (p.Arg1654Gln)
|
rs150868941
|
0.00026
|
NM_001378615.1(CC2D2A):c.1691C>T (p.Thr564Met)
|
rs201954181
|
0.00026
|
NM_001378615.1(CC2D2A):c.501G>T (p.Lys167Asn)
|
rs190694237
|
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_015910.7(WDPCP):c.1788C>T (p.Asp596=)
|
rs185980830
|
0.00026
|
NM_018718.3(CEP41):c.*392G>A
|
rs528501184
|
0.00026
|
NM_020779.4(WDR35):c.*807T>C
|
rs555257043
|
0.00026
|
NM_025114.3(CEP290):c.-295T>C
|
rs374616539
|
0.00026
|
NM_144596.4(TTC8):c.669G>A (p.Lys223=)
|
rs141304350
|
0.00026
|
NM_153240.5(NPHP3):c.1172C>G (p.Pro391Arg)
|
rs138982161
|
0.00026
|
NM_153240.5(NPHP3):c.408G>A (p.Thr136=)
|
rs141410951
|
0.00026
|
NM_153717.3(EVC):c.1797G>A (p.Ala599=)
|
rs199875230
|
0.00026
|
NM_178452.6(DNAAF1):c.1350G>A (p.Pro450=)
|
rs148990251
|
0.00026
|
NM_198525.3(KIF7):c.3202C>T (p.Arg1068Trp)
|
rs147191956
|
0.00026
|
NM_001369.3(DNAH5):c.12523G>A (p.Val4175Met)
|
rs148123430
|
0.00025
|
NM_001369.3(DNAH5):c.7684A>T (p.Ile2562Phe)
|
rs151287187
|
0.00025
|
NM_014714.4(IFT140):c.*2G>A
|
rs144879630
|
0.00025
|
NM_015102.5(NPHP4):c.1114G>A (p.Gly372Ser)
|
rs188020560
|
0.00025
|
NM_015102.5(NPHP4):c.1632C>T (p.Ala544=)
|
rs201903713
|
0.00025
|
NM_015272.5(RPGRIP1L):c.*698T>C
|
rs545786772
|
0.00025
|
NM_017950.4(CCDC40):c.2387C>G (p.Ala796Gly)
|
rs139435501
|
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_031427.4(DNAL1):c.*6161_*6162insCA
|
rs886050720
|
0.00025
|
NM_152618.3(BBS12):c.1257C>T (p.Ser419=)
|
rs34652786
|
0.00025
|
NM_152732.5(RSPH9):c.512G>A (p.Arg171Gln)
|
rs201032669
|
0.00025
|
NM_153717.3(EVC):c.2276G>A (p.Ser759Asn)
|
rs201776972
|
0.00025
|
NM_176824.3(BBS7):c.1375C>T (p.Arg459Cys)
|
rs150743868
|
0.00025
|
NM_001199397.3(NEK1):c.1617G>A (p.Gln539=)
|
rs146569517
|
0.00024
|
NM_001277115.2(DNAH11):c.10411G>A (p.Glu3471Lys)
|
rs117729990
|
0.00024
|
NM_001277115.2(DNAH11):c.11249T>G (p.Val3750Gly)
|
rs199864090
|
0.00024
|
NM_001277115.2(DNAH11):c.3853-5C>G
|
rs367628980
|
0.00024
|
NM_001277115.2(DNAH11):c.4945-12T>C
|
rs141572016
|
0.00024
|
NM_001277115.2(DNAH11):c.661A>T (p.Met221Leu)
|
rs147525173
|
0.00024
|
NM_001369.3(DNAH5):c.11570+13G>A
|
rs80199741
|
0.00024
|
NM_001369.3(DNAH5):c.367C>T (p.Leu123Phe)
|
rs148017278
|
0.00024
|
NM_001377.3(DYNC2H1):c.10199G>A (p.Arg3400Gln)
|
rs775615484
|
0.00024
|
NM_001377.3(DYNC2H1):c.5642G>A (p.Arg1881Lys)
|
rs199541807
|
0.00024
|
NM_001377.3(DYNC2H1):c.8311+10A>G
|
rs376842066
|
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_001384732.1(CPLANE1):c.3447A>G (p.Pro1149=)
|
rs141425550
|
0.00024
|
NM_012472.6(DNAAF11):c.*63C>A
|
rs559073925
|
0.00024
|
NM_015102.5(NPHP4):c.1127C>T (p.Ser376Leu)
|
rs372414566
|
0.00024
|
NM_015102.5(NPHP4):c.3175G>A (p.Ala1059Thr)
|
rs202004152
|
0.00024
|
NM_015272.5(RPGRIP1L):c.628A>G (p.Asn210Asp)
|
rs146584570
|
0.00024
|
NM_017950.4(CCDC40):c.384A>G (p.Ala128=)
|
rs375586063
|
0.00024
|
NM_018718.3(CEP41):c.*2226G>A
|
rs115431091
|
0.00024
|
NM_024685.4(BBS10):c.*1197A>G
|
rs1021806409
|
0.00024
|
NM_024685.4(BBS10):c.*773T>C
|
rs549588883
|
0.00024
|
NM_025132.4(WDR19):c.3484-15T>C
|
rs376870184
|
0.00024
|
NM_031885.5(BBS2):c.1104C>T (p.Asn368=)
|
rs141731677
|
0.00024
|
NM_144596.4(TTC8):c.*92C>T
|
rs148799039
|
0.00024
|
NM_152618.3(BBS12):c.-152C>G
|
rs886059056
|
0.00024
|
NM_153717.3(EVC):c.2350G>A (p.Ala784Thr)
|
rs149537641
|
0.00024
|
NM_198428.3(BBS9):c.2211G>A (p.Leu737=)
|
rs144672900
|
0.00024
|
NM_198525.3(KIF7):c.2613G>A (p.Glu871=)
|
rs370595622
|
0.00024
|
NM_001128178.3(NPHP1):c.771+89A>G
|
rs139787582
|
0.00023
|
NM_001277115.2(DNAH11):c.12601C>T (p.Pro4201Ser)
|
rs200166341
|
0.00023
|
NM_001277115.2(DNAH11):c.12899G>A (p.Arg4300His)
|
rs377388499
|
0.00023
|
NM_001369.3(DNAH5):c.10066T>C (p.Leu3356=)
|
rs138441172
|
0.00023
|
NM_001384732.1(CPLANE1):c.1456G>A (p.Asp486Asn)
|
rs374411782
|
0.00023
|
NM_006642.5(SDCCAG8):c.1525C>G (p.Gln509Glu)
|
rs199919586
|
0.00023
|
NM_015102.5(NPHP4):c.3105G>A (p.Pro1035=)
|
rs151151838
|
0.00023
|
NM_015681.6(B9D1):c.*47C>T
|
rs200124070
|
0.00023
|
NM_018139.3(DNAAF2):c.700C>T (p.Pro234Ser)
|
rs776126134
|
0.00023
|
NM_024649.5(BBS1):c.1194C>A (p.Ile398=)
|
rs200577824
|
0.00023
|
NM_153704.6(TMEM67):c.1379G>C (p.Arg460Thr)
|
rs375991767
|
0.00023
|
NM_176824.3(BBS7):c.1263T>A (p.Asp421Glu)
|
rs146412602
|
0.00023
|
NM_001256715.2(DNAAF3):c.1049-1G>A
|
rs199590885
|
0.00022
|
NM_001277115.2(DNAH11):c.9783G>C (p.Glu3261Asp)
|
rs201944089
|
0.00022
|
NM_001369.3(DNAH5):c.11761+5A>G
|
rs780205801
|
0.00022
|
NM_001369.3(DNAH5):c.5196G>T (p.Ala1732=)
|
rs201484389
|
0.00022
|
NM_001377.3(DYNC2H1):c.10043-7T>A
|
rs376067770
|
0.00022
|
NM_001378615.1(CC2D2A):c.3480G>T (p.Leu1160=)
|
rs771914973
|
0.00022
|
NM_001384732.1(CPLANE1):c.7616C>T (p.Ala2539Val)
|
rs150595284
|
0.00022
|
NM_015102.4(NPHP4):c.-236C>T
|
rs185912310
|
0.00022
|
NM_015272.5(RPGRIP1L):c.*506T>G
|
rs778362441
|
0.00022
|
NM_015681.6(B9D1):c.376T>A (p.Ser126Thr)
|
rs201299216
|
0.00022
|
NM_017777.4(MKS1):c.644+8G>T
|
rs370117125
|
0.00022
|
NM_017950.4(CCDC40):c.1459G>A (p.Ala487Thr)
|
rs185157579
|
0.00022
|
NM_018718.3(CEP41):c.*1341A>C
|
rs782742227
|
0.00022
|
NM_024809.5(TCTN2):c.500C>T (p.Pro167Leu)
|
rs201140519
|
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_152618.3(BBS12):c.1499T>C (p.Val500Ala)
|
rs145392789
|
0.00022
|
NM_153717.3(EVC):c.442T>C (p.Leu148=)
|
rs139931919
|
0.00022
|
NM_178452.6(DNAAF1):c.1033G>C (p.Glu345Gln)
|
rs538389058
|
0.00022
|
NM_178452.6(DNAAF1):c.1083C>T (p.Gly361=)
|
rs200487337
|
0.00022
|
NM_198428.3(BBS9):c.2593A>G (p.Thr865Ala)
|
rs143963391
|
0.00022
|
NM_198525.3(KIF7):c.*36C>T
|
rs370152166
|
0.00022
|
NM_198525.3(KIF7):c.3784C>T (p.Arg1262Trp)
|
rs142598777
|
0.00022
|
NM_001010892.3(RSPH4A):c.930C>T (p.Asn310=)
|
rs180881714
|
0.00021
|
NM_001258400.2(FAM187A):c.-274T>C
|
rs557164647
|
0.00021
|
NM_001277115.2(DNAH11):c.13213C>T (p.Arg4405Cys)
|
rs371929703
|
0.00021
|
NM_001277115.2(DNAH11):c.2419G>C (p.Asp807His)
|
rs369849556
|
0.00021
|
NM_001277115.2(DNAH11):c.2499C>T (p.Asn833=)
|
rs201231307
|
0.00021
|
NM_001277115.2(DNAH11):c.4306C>T (p.Arg1436Trp)
|
rs183489539
|
0.00021
|
NM_001277115.2(DNAH11):c.4775G>T (p.Cys1592Phe)
|
rs72657327
|
0.00021
|
NM_001277115.2(DNAH11):c.8572G>A (p.Gly2858Ser)
|
rs201501951
|
0.00021
|
NM_001277115.2(DNAH11):c.9925-7T>C
|
rs146815254
|
0.00021
|
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs)
|
rs397515540
|
0.00021
|
NM_001369.3(DNAH5):c.8936A>G (p.Gln2979Arg)
|
rs148666497
|
0.00021
|
NM_001377.3(DYNC2H1):c.*293A>G
|
rs540596724
|
0.00021
|
NM_001377.3(DYNC2H1):c.3735C>T (p.Ala1245=)
|
rs377584612
|
0.00021
|
NM_001377.3(DYNC2H1):c.4719A>G (p.Gln1573=)
|
rs201016942
|
0.00021
|
NM_001377.3(DYNC2H1):c.5508A>G (p.Lys1836=)
|
rs201305322
|
0.00021
|
NM_001378615.1(CC2D2A):c.2039G>A (p.Arg680His)
|
rs200236654
|
0.00021
|
NM_001384732.1(CPLANE1):c.4074C>T (p.Ile1358=)
|
rs145018253
|
0.00021
|
NM_014714.4(IFT140):c.3271-4G>A
|
rs200815296
|
0.00021
|
NM_014714.4(IFT140):c.410G>A (p.Arg137Gln)
|
rs145718272
|
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_015910.7(WDPCP):c.1094A>G (p.Glu365Gly)
|
rs201662623
|
0.00021
|
NM_015910.7(WDPCP):c.75+13C>T
|
rs182759221
|
0.00021
|
NM_016464.5(TMEM138):c.-169C>T
|
rs553390222
|
0.00021
|
NM_017777.4(MKS1):c.*603T>G
|
rs578200260
|
0.00021
|
NM_017777.4(MKS1):c.-15C>G
|
rs541448010
|
0.00021
|
NM_017950.4(CCDC40):c.1414C>T (p.Arg472Trp)
|
rs187993089
|
0.00021
|
NM_020779.4(WDR35):c.*1370G>A
|
rs1039776865
|
0.00021
|
NM_023036.6(DNAI2):c.571C>T (p.Pro191Ser)
|
rs201457010
|
0.00021
|
NM_024753.4(TTC21B):c.-94C>T
|
rs563836188
|
0.00021
|
NM_024809.5(TCTN2):c.202A>G (p.Ile68Val)
|
rs137939978
|
0.00021
|
NM_025114.4(CEP290):c.7276G>A (p.Asp2426Asn)
|
rs200178519
|
0.00021
|
NM_144596.4(TTC8):c.1417A>G (p.Thr473Ala)
|
rs376411291
|
0.00021
|
NM_147127.5(EVC2):c.2668G>A (p.Val890Met)
|
rs371698182
|
0.00021
|
NM_153717.3(EVC):c.*302G>A
|
rs560005309
|
0.00021
|
NM_170784.3(MKKS):c.1363G>A (p.Glu455Lys)
|
rs149626732
|
0.00021
|
NM_181426.2(CCDC39):c.68A>C (p.Glu23Ala)
|
rs200225521
|
0.00021
|
NM_198525.3(KIF7):c.1090C>T (p.Pro364Ser)
|
rs764965490
|
0.00021
|
NM_198525.3(KIF7):c.612C>T (p.His204=)
|
rs398124613
|
0.00021
|
NM_001277115.2(DNAH11):c.13399G>A (p.Val4467Met)
|
rs200609513
|
0.00020
|
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val)
|
rs201502401
|
0.00020
|
NM_012144.4(DNAI1):c.1454C>T (p.Thr485Met)
|
rs137935543
|
0.00020
|
NM_014714.4(IFT140):c.1230G>A (p.Ser410=)
|
rs199840711
|
0.00020
|
NM_015102.5(NPHP4):c.1196A>G (p.Glu399Gly)
|
rs117898549
|
0.00020
|
NM_017950.4(CCDC40):c.2229G>C (p.Glu743Asp)
|
rs377219039
|
0.00020
|
NM_019892.6(INPP5E):c.*235A>G
|
rs376604726
|
0.00020
|
NM_024649.5(BBS1):c.*522C>T
|
rs886048528
|
0.00020
|
NM_025114.4(CEP290):c.1729C>T (p.Leu577=)
|
rs201295052
|
0.00020
|
NM_033028.5(BBS4):c.*783A>G
|
rs775532255
|
0.00020
|
NM_152732.5(RSPH9):c.421G>A (p.Val141Met)
|
rs2295947
|
0.00020
|
NM_178452.6(DNAAF1):c.1838C>A (p.Thr613Asn)
|
rs145075337
|
0.00020
|
NM_001082538.3(TCTN1):c.1676C>T (p.Ala559Val)
|
rs373723058
|
0.00019
|
NM_001128178.3(NPHP1):c.867A>G (p.Gln289=)
|
rs371112962
|
0.00019
|
NM_001199397.3(NEK1):c.*996G>A
|
rs868452742
|
0.00019
|
NM_001277115.2(DNAH11):c.9966A>G (p.Gln3322=)
|
rs201050208
|
0.00019
|
NM_001369.3(DNAH5):c.12367C>T (p.His4123Tyr)
|
rs151145750
|
0.00019
|
NM_001369.3(DNAH5):c.330A>T (p.Lys110Asn)
|
rs138832246
|
0.00019
|
NM_001369.3(DNAH5):c.5911G>A (p.Gly1971Arg)
|
rs764973765
|
0.00019
|
NM_001369.3(DNAH5):c.6230T>C (p.Phe2077Ser)
|
rs141196027
|
0.00019
|
NM_001377.3(DYNC2H1):c.12909C>A (p.Phe4303Leu)
|
rs191971137
|
0.00019
|
NM_001377.3(DYNC2H1):c.1384C>T (p.Arg462Trp)
|
rs768459821
|
0.00019
|
NM_001377.3(DYNC2H1):c.2935C>T (p.Arg979Trp)
|
rs772439717
|
0.00019
|
NM_001377.3(DYNC2H1):c.366+10G>A
|
rs200257097
|
0.00019
|
NM_001377.3(DYNC2H1):c.4959T>C (p.Tyr1653=)
|
rs201863754
|
0.00019
|
NM_001378454.1(ALMS1):c.*209A>G
|
rs573978557
|
0.00019
|
NM_001378615.1(CC2D2A):c.2882T>C (p.Ile961Thr)
|
rs76626268
|
0.00019
|
NM_001384732.1(CPLANE1):c.221C>T (p.Ala74Val)
|
rs139496915
|
0.00019
|
NM_001384732.1(CPLANE1):c.626A>G (p.Lys209Arg)
|
rs770630520
|
0.00019
|
NM_001384732.1(CPLANE1):c.82-14G>A
|
rs180804052
|
0.00019
|
NM_012210.4(TRIM32):c.*1350A>C
|
rs1055184514
|
0.00019
|
NM_012472.6(DNAAF11):c.178+13A>G
|
rs200580615
|
0.00019
|
NM_014714.4(IFT140):c.2787G>A (p.Thr929=)
|
rs374661866
|
0.00019
|
NM_014714.4(IFT140):c.4381G>A (p.Asp1461Asn)
|
rs201065562
|
0.00019
|
NM_015102.5(NPHP4):c.1120-13G>T
|
rs192450719
|
0.00019
|
NM_015102.5(NPHP4):c.2230G>A (p.Val744Met)
|
rs199712626
|
0.00019
|
NM_015102.5(NPHP4):c.3518G>A (p.Arg1173His)
|
rs137932153
|
0.00019
|
NM_018139.3(DNAAF2):c.332G>C (p.Arg111Pro)
|
rs549781788
|
0.00019
|
NM_018718.3(CEP41):c.*2781A>G
|
rs782043938
|
0.00019
|
NM_018718.3(CEP41):c.*4391G>A
|
rs782450438
|
0.00019
|
NM_020779.4(WDR35):c.2065C>T (p.Arg689Cys)
|
rs140196566
|
0.00019
|
NM_023036.6(DNAI2):c.1629G>A (p.Ala543=)
|
rs201925425
|
0.00019
|
NM_024753.5(TTC21B):c.-24C>T
|
rs554218980
|
0.00019
|
NM_024753.5(TTC21B):c.2227G>A (p.Val743Ile)
|
rs183367929
|
0.00019
|
NM_025114.4(CEP290):c.-147A>T
|
rs753567406
|
0.00019
|
NM_025132.4(WDR19):c.1595T>C (p.Ile532Thr)
|
rs749672769
|
0.00019
|
NM_025132.4(WDR19):c.3016A>G (p.Thr1006Ala)
|
rs199678654
|
0.00019
|
NM_031885.3(BBS2):c.-190G>C
|
rs555974619
|
0.00019
|
NM_031885.5(BBS2):c.725A>G (p.Asn242Ser)
|
rs199898889
|
0.00019
|
NM_033028.5(BBS4):c.752A>G (p.Asp251Gly)
|
rs148843256
|
0.00019
|
NM_147127.5(EVC2):c.2039T>C (p.Leu680Pro)
|
rs148407223
|
0.00019
|
NM_147127.5(EVC2):c.3413C>T (p.Thr1138Met)
|
rs182298453
|
0.00019
|
NM_153717.3(EVC):c.*3170T>C
|
rs886059519
|
0.00019
|
NM_153717.3(EVC):c.-163G>A
|
rs989585218
|
0.00019
|
NM_198525.3(KIF7):c.2426G>A (p.Arg809Gln)
|
rs758378987
|
0.00019
|
NM_001010892.3(RSPH4A):c.*469T>C
|
rs191910575
|
0.00018
|
NM_001128178.3(NPHP1):c.1721C>T (p.Ser574Leu)
|
rs138181219
|
0.00018
|
NM_001277115.2(DNAH11):c.2824C>A (p.Pro942Thr)
|
rs189569144
|
0.00018
|
NM_001277115.2(DNAH11):c.8145C>T (p.Asn2715=)
|
rs201592689
|
0.00018
|
NM_001369.3(DNAH5):c.11974G>C (p.Asp3992His)
|
rs143251480
|
0.00018
|
NM_001369.3(DNAH5):c.1752T>C (p.Gly584=)
|
rs201028861
|
0.00018
|
NM_001378615.1(CC2D2A):c.3846A>T (p.Pro1282=)
|
rs372292129
|
0.00018
|
NM_001384732.1(CPLANE1):c.3812-5T>G
|
rs375780513
|
0.00018
|
NM_017777.4(MKS1):c.491G>A (p.Arg164His)
|
rs200149256
|
0.00018
|
NM_017950.4(CCDC40):c.598G>A (p.Val200Ile)
|
rs200292678
|
0.00018
|
NM_018719.5(CDCA7L):c.*805G>A
|
rs192515848
|
0.00018
|
NM_024753.5(TTC21B):c.-18C>T
|
rs187707893
|
0.00018
|
NM_031427.4(DNAL1):c.*5630del
|
rs746876867
|
0.00018
|
NM_176824.3(BBS7):c.*1324G>A
|
rs181687808
|
0.00018
|
NM_181426.2(CCDC39):c.*842A>G
|
rs187269837
|
0.00018
|
NM_001044385.3(TMEM237):c.183C>T (p.Pro61=)
|
rs372100073
|
0.00017
|
NM_001199397.3(NEK1):c.-504T>C
|
rs550632789
|
0.00017
|
NM_001277115.2(DNAH11):c.13162+12C>T
|
rs191638909
|
0.00017
|
NM_001377.3(DYNC2H1):c.12457-13T>C
|
rs537890566
|
0.00017
|
NM_001377.3(DYNC2H1):c.7462G>A (p.Asp2488Asn)
|
rs201825699
|
0.00017
|
NM_001384732.1(CPLANE1):c.4306C>T (p.Pro1436Ser)
|
rs183021118
|
0.00017
|
NM_012144.4(DNAI1):c.1523T>C (p.Ile508Thr)
|
rs148238282
|
0.00017
|
NM_012210.4(TRIM32):c.770C>G (p.Thr257Arg)
|
rs3747834
|
0.00017
|
NM_015102.5(NPHP4):c.2716C>T (p.Arg906Cys)
|
rs199992272
|
0.00017
|
NM_015102.5(NPHP4):c.3131G>A (p.Arg1044His)
|
rs375819124
|
0.00017
|
NM_018719.5(CDCA7L):c.*912A>G
|
rs547875413
|
0.00017
|
NM_025114.4(CEP290):c.384T>C (p.Asp128=)
|
rs76267039
|
0.00017
|
NM_033028.5(BBS4):c.1440G>A (p.Thr480=)
|
rs148682268
|
0.00017
|
NM_147127.5(EVC2):c.1341C>T (p.Tyr447=)
|
rs186349183
|
0.00017
|
NM_152732.5(RSPH9):c.819C>T (p.Pro273=)
|
rs79412180
|
0.00017
|
NM_153704.6(TMEM67):c.*279T>C
|
rs752060945
|
0.00017
|
NM_153717.3(EVC):c.*1573T>A
|
rs958649706
|
0.00017
|
NM_170784.3(MKKS):c.*112C>T
|
rs551220022
|
0.00017
|
NM_181426.2(CCDC39):c.2266-5T>C
|
rs200409307
|
0.00017
|
NM_181426.2(CCDC39):c.547T>C (p.Leu183=)
|
rs375301243
|
0.00017
|
NM_198525.3(KIF7):c.1324G>T (p.Asp442Tyr)
|
rs747307729
|
0.00017
|
NM_001044385.3(TMEM237):c.*3123T>A
|
rs866645983
|
0.00016
|
NM_001044385.3(TMEM237):c.869+10A>G
|
rs376868416
|
0.00016
|
NM_001082538.2(TCTN1):c.-140A>G
|
rs886048956
|
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_001199397.3(NEK1):c.*494A>G
|
rs532868932
|
0.00016
|
NM_001277115.2(DNAH11):c.12407G>A (p.Arg4136His)
|
rs372603233
|
0.00016
|
NM_001277115.2(DNAH11):c.13398C>T (p.Pro4466=)
|
rs72658836
|
0.00016
|
NM_001277115.2(DNAH11):c.2038G>A (p.Asp680Asn)
|
rs201121146
|
0.00016
|
NM_001277115.2(DNAH11):c.6017C>T (p.Pro2006Leu)
|
rs117803903
|
0.00016
|
NM_001277115.2(DNAH11):c.8230C>T (p.Arg2744Cys)
|
rs374826188
|
0.00016
|
NM_001377.3(DYNC2H1):c.5313A>G (p.Val1771=)
|
rs144553338
|
0.00016
|
NM_001377.3(DYNC2H1):c.9568-13C>G
|
rs189730787
|
0.00016
|
NM_001384732.1(CPLANE1):c.1096C>T (p.Pro366Ser)
|
rs376489487
|
0.00016
|
NM_001384732.1(CPLANE1):c.4388C>T (p.Thr1463Ile)
|
rs202103224
|
0.00016
|
NM_012472.6(DNAAF11):c.1109C>G (p.Thr370Arg)
|
rs148424037
|
0.00016
|
NM_014714.4(IFT140):c.-317T>A
|
rs866146909
|
0.00016
|
NM_014714.4(IFT140):c.2742C>T (p.Ser914=)
|
rs374793763
|
0.00016
|
NM_015102.5(NPHP4):c.2781C>T (p.Ala927=)
|
rs199875603
|
0.00016
|
NM_015102.5(NPHP4):c.3777G>A (p.Arg1259=)
|
rs369566680
|
0.00016
|
NM_015102.5(NPHP4):c.467A>G (p.His156Arg)
|
rs199897869
|
0.00016
|
NM_015272.5(RPGRIP1L):c.3616+7A>G
|
rs373003699
|
0.00016
|
NM_015910.7(WDPCP):c.-109G>C
|
rs886056226
|
0.00016
|
NM_017777.4(MKS1):c.1113C>A (p.Phe371Leu)
|
rs950609840
|
0.00016
|
NM_017950.4(CCDC40):c.1187A>T (p.Asn396Ile)
|
rs200701665
|
0.00016
|
NM_017950.4(CCDC40):c.1897C>T (p.Arg633Trp)
|
rs200551690
|
0.00016
|
NM_017950.4(CCDC40):c.2227G>A (p.Glu743Lys)
|
rs201166295
|
0.00016
|
NM_017950.4(CCDC40):c.2332C>T (p.Leu778=)
|
rs202075842
|
0.00016
|
NM_017950.4(CCDC40):c.697G>A (p.Asp233Asn)
|
rs201815496
|
0.00016
|
NM_017950.4(CCDC40):c.760G>A (p.Glu254Lys)
|
rs758247990
|
0.00016
|
NM_018139.3(DNAAF2):c.1687G>T (p.Ala563Ser)
|
rs138511448
|
0.00016
|
NM_018718.3(CEP41):c.*2786A>C
|
rs782016580
|
0.00016
|
NM_018718.3(CEP41):c.*705G>A
|
rs782543502
|
0.00016
|
NM_019892.6(INPP5E):c.-347G>A
|
rs886063716
|
0.00016
|
NM_020779.4(WDR35):c.*1062G>A
|
rs778834686
|
0.00016
|
NM_020800.3(IFT80):c.634T>C (p.Tyr212His)
|
rs756009771
|
0.00016
|
NM_020800.3(IFT80):c.912G>A (p.Glu304=)
|
rs199575501
|
0.00016
|
NM_024753.5(TTC21B):c.1448C>A (p.Thr483Asn)
|
rs142887208
|
0.00016
|
NM_024753.5(TTC21B):c.785A>T (p.Asp262Val)
|
rs756913474
|
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_144596.4(TTC8):c.1463C>T (p.Ala488Val)
|
rs199649536
|
0.00016
|
NM_147127.5(EVC2):c.1846G>A (p.Ala616Thr)
|
rs201201603
|
0.00016
|
NM_147127.5(EVC2):c.615G>A (p.Leu205=)
|
rs140864640
|
0.00016
|
NM_153717.3(EVC):c.*2808C>T
|
rs558094887
|
0.00016
|
NM_170784.3(MKKS):c.-477G>T
|
rs886056501
|
0.00016
|
NM_176824.3(BBS7):c.*513C>T
|
rs577071672
|
0.00016
|
NM_176824.3(BBS7):c.*709G>C
|
rs886059050
|
0.00016
|
NM_176824.3(BBS7):c.280A>T (p.Thr94Ser)
|
rs202102193
|
0.00016
|
NM_178452.6(DNAAF1):c.1528+11C>T
|
rs375586650
|
0.00016
|
NM_181426.2(CCDC39):c.1885C>T (p.Arg629Cys)
|
rs199526690
|
0.00016
|
NM_198428.3(BBS9):c.736C>T (p.Leu246Phe)
|
rs140821420
|
0.00016
|
NM_198525.3(KIF7):c.208G>A (p.Val70Met)
|
rs761934745
|
0.00016
|
NM_001010892.3(RSPH4A):c.1708G>C (p.Glu570Gln)
|
rs147003118
|
0.00015
|
NM_001010892.3(RSPH4A):c.287C>T (p.Pro96Leu)
|
rs201187909
|
0.00015
|
NM_001023570.4(IQCB1):c.1311A>G (p.Lys437=)
|
rs142536967
|
0.00015
|
NM_001134831.2(AHI1):c.2222A>G (p.Asp741Gly)
|
rs369869567
|
0.00015
|
NM_001277115.2(DNAH11):c.9869C>G (p.Ser3290Cys)
|
rs201494403
|
0.00015
|
NM_001369.3(DNAH5):c.1335C>T (p.Cys445=)
|
rs192739957
|
0.00015
|
NM_001369.3(DNAH5):c.4587G>A (p.Glu1529=)
|
rs569428035
|
0.00015
|
NM_001377.3(DYNC2H1):c.6307T>A (p.Ser2103Thr)
|
rs201003494
|
0.00015
|
NM_020779.4(WDR35):c.2999A>T (p.Glu1000Val)
|
rs370951527
|
0.00015
|
NM_033028.5(BBS4):c.1215C>G (p.Leu405=)
|
rs3759869
|
0.00015
|
NM_147127.5(EVC2):c.3174G>A (p.Leu1058=)
|
rs555652075
|
0.00015
|
NM_153717.3(EVC):c.*907C>T
|
rs71599839
|
0.00015
|
NM_153717.3(EVC):c.105C>A (p.Gly35=)
|
rs745558003
|
0.00015
|
NM_198525.3(KIF7):c.952G>A (p.Ala318Thr)
|
rs756368261
|
0.00015
|
NM_001009894.3(RLIG1):c.*594T>C
|
rs376016171
|
0.00014
|
NM_001010892.3(RSPH4A):c.1286A>G (p.Tyr429Cys)
|
rs140079844
|
0.00014
|
NM_001044385.3(TMEM237):c.*714_*715del
|
rs373844800
|
0.00014
|
NM_001082538.3(TCTN1):c.14G>A (p.Gly5Asp)
|
rs572300029
|
0.00014
|
NM_001134831.2(AHI1):c.189+12T>C
|
rs199617785
|
0.00014
|
NM_001173990.2(TMEM216):c.-86G>A
|
rs188478638
|
0.00014
|
NM_001277115.2(DNAH11):c.2463C>T (p.Ser821=)
|
rs530406993
|
0.00014
|
NM_001277115.2(DNAH11):c.3425+5C>G
|
rs776140118
|
0.00014
|
NM_001369.3(DNAH5):c.10194C>T (p.Arg3398=)
|
rs371663826
|
0.00014
|
NM_001369.3(DNAH5):c.13775G>A (p.Arg4592Gln)
|
rs367709427
|
0.00014
|
NM_001369.3(DNAH5):c.3315C>A (p.Asn1105Lys)
|
rs144053917
|
0.00014
|
NM_001369.3(DNAH5):c.4258A>G (p.Asn1420Asp)
|
rs201841311
|
0.00014
|
NM_001369.3(DNAH5):c.4596+5A>C
|
rs182677317
|
0.00014
|
NM_001369.3(DNAH5):c.4797-7A>G
|
rs374917069
|
0.00014
|
NM_001369.3(DNAH5):c.6018T>C (p.Cys2006=)
|
rs368456533
|
0.00014
|
NM_001369.3(DNAH5):c.9781A>G (p.Lys3261Glu)
|
rs146215039
|
0.00014
|
NM_001377.3(DYNC2H1):c.10261A>G (p.Lys3421Glu)
|
rs372204188
|
0.00014
|
NM_001377.3(DYNC2H1):c.3128G>A (p.Arg1043His)
|
rs372627366
|
0.00014
|
NM_001377.3(DYNC2H1):c.7209G>A (p.Val2403=)
|
rs371948128
|
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_001384732.1(CPLANE1):c.7298T>C (p.Leu2433Pro)
|
rs372655878
|
0.00014
|
NM_012144.4(DNAI1):c.-145C>T
|
rs886063880
|
0.00014
|
NM_014714.4(IFT140):c.22C>G (p.Gln8Glu)
|
rs145267929
|
0.00014
|
NM_014714.4(IFT140):c.2935G>A (p.Glu979Lys)
|
rs146277966
|
0.00014
|
NM_015102.5(NPHP4):c.1445C>T (p.Pro482Leu)
|
rs372565083
|
0.00014
|
NM_015102.5(NPHP4):c.2490C>T (p.His830=)
|
rs549982601
|
0.00014
|
NM_015102.5(NPHP4):c.902C>T (p.Pro301Leu)
|
rs527701970
|
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.530-15T>C
|
rs368728064
|
0.00014
|
NM_015910.7(WDPCP):c.1079C>T (p.Ser360Leu)
|
rs141011629
|
0.00014
|
NM_015910.7(WDPCP):c.2113G>T (p.Asp705Tyr)
|
rs200378703
|
0.00014
|
NM_017777.4(MKS1):c.417G>A (p.Glu139=)
|
rs386834048
|
0.00014
|
NM_018139.3(DNAAF2):c.824C>T (p.Ala275Val)
|
rs200291432
|
0.00014
|
NM_018718.3(CEP41):c.*1328T>A
|
rs782132652
|
0.00014
|
NM_018718.3(CEP41):c.*4714T>C
|
rs782085608
|
0.00014
|
NM_020800.3(IFT80):c.655G>A (p.Gly219Ser)
|
rs201365447
|
0.00014
|
NM_020800.3(IFT80):c.807T>C (p.Thr269=)
|
rs372419950
|
0.00014
|
NM_020800.3(IFT80):c.869A>G (p.Asn290Ser)
|
rs138081429
|
0.00014
|
NM_023036.6(DNAI2):c.1040G>A (p.Arg347His)
|
rs138489039
|
0.00014
|
NM_024649.5(BBS1):c.*104G>C
|
rs554182779
|
0.00014
|
NM_024649.5(BBS1):c.200G>A (p.Arg67His)
|
rs145718265
|
0.00014
|
NM_024685.4(BBS10):c.372T>A (p.Ser124=)
|
rs143366878
|
0.00014
|
NM_033028.5(BBS4):c.*770C>T
|
rs777872738
|
0.00014
|
NM_153240.5(NPHP3):c.1813C>T (p.Arg605Cys)
|
rs144731534
|
0.00014
|
NM_153240.5(NPHP3):c.3504A>G (p.Ala1168=)
|
rs371505908
|
0.00014
|
NM_153704.6(TMEM67):c.869+9A>G
|
rs372597584
|
0.00014
|
NM_153717.3(EVC):c.1818A>C (p.Thr606=)
|
rs202093497
|
0.00014
|
NM_153717.3(EVC):c.2241G>A (p.Ala747=)
|
rs142094016
|
0.00014
|
NM_170784.3(MKKS):c.1553G>A (p.Arg518His)
|
rs149051148
|
0.00014
|
NM_198428.3(BBS9):c.1760G>A (p.Arg587Gln)
|
rs149042169
|
0.00014
|
NM_198525.3(KIF7):c.3252C>T (p.Leu1084=)
|
rs77896636
|
0.00014
|
NM_001082538.3(TCTN1):c.987C>T (p.Tyr329=)
|
rs371066430
|
0.00013
|
NM_001134831.2(AHI1):c.2962-3T>C
|
rs369713977
|
0.00013
|
NM_001173990.2(TMEM216):c.-135T>C
|
rs183785901
|
0.00013
|
NM_001369.3(DNAH5):c.2047C>T (p.Arg683Trp)
|
rs182512638
|
0.00013
|
NM_001369.3(DNAH5):c.2306C>T (p.Ala769Val)
|
rs200101760
|
0.00013
|
NM_001369.3(DNAH5):c.4361G>A (p.Arg1454Gln)
|
rs542708170
|
0.00013
|
NM_001377.3(DYNC2H1):c.3643C>T (p.Arg1215Cys)
|
rs746768637
|
0.00013
|
NM_001377.3(DYNC2H1):c.5793G>C (p.Leu1931Phe)
|
rs185504536
|
0.00013
|
NM_001377.3(DYNC2H1):c.6558C>T (p.Asp2186=)
|
rs199675558
|
0.00013
|
NM_001384732.1(CPLANE1):c.8908G>A (p.Ala2970Thr)
|
rs369585190
|
0.00013
|
NM_012144.4(DNAI1):c.1195G>A (p.Val399Met)
|
rs150261456
|
0.00013
|
NM_012210.4(TRIM32):c.*1416A>G
|
rs572710748
|
0.00013
|
NM_012472.6(DNAAF11):c.611C>T (p.Ala204Val)
|
rs376633613
|
0.00013
|
NM_014714.4(IFT140):c.*46T>G
|
rs761282751
|
0.00013
|
NM_014714.4(IFT140):c.3147C>T (p.Asn1049=)
|
rs150129370
|
0.00013
|
NM_014714.4(IFT140):c.728A>G (p.Glu243Gly)
|
rs539181813
|
0.00013
|
NM_015102.5(NPHP4):c.-202C>T
|
rs145074678
|
0.00013
|
NM_015102.5(NPHP4):c.1319C>T (p.Ser440Leu)
|
rs749571139
|
0.00013
|
NM_015102.5(NPHP4):c.274A>G (p.Asn92Asp)
|
rs762383978
|
0.00013
|
NM_015102.5(NPHP4):c.3174C>T (p.Thr1058=)
|
rs374354239
|
0.00013
|
NM_015120.4(ALMS1):c.-64C>T
|
rs886056293
|
0.00013
|
NM_017950.4(CCDC40):c.*18G>A
|
rs746718107
|
0.00013
|
NM_020779.4(WDR35):c.2777A>G (p.Tyr926Cys)
|
rs75602337
|
0.00013
|
NM_020779.4(WDR35):c.765C>T (p.Tyr255=)
|
rs117255034
|
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_025132.4(WDR19):c.1134+13T>G
|
rs374615138
|
0.00013
|
NM_025132.4(WDR19):c.2329A>G (p.Ile777Val)
|
rs373737104
|
0.00013
|
NM_025132.4(WDR19):c.3483+5G>A
|
rs201216969
|
0.00013
|
NM_152618.3(BBS12):c.-109G>T
|
rs886059057
|
0.00013
|
NM_153240.5(NPHP3):c.3570+4A>G
|
rs374989123
|
0.00013
|
NM_153704.6(TMEM67):c.2299G>A (p.Val767Ile)
|
rs201949664
|
0.00013
|
NM_153717.3(EVC):c.*1871C>T
|
rs150764469
|
0.00013
|
NM_153717.3(EVC):c.*2569C>T
|
rs117573606
|
0.00013
|
NM_153717.3(EVC):c.1523A>G (p.Glu508Gly)
|
rs370721640
|
0.00013
|
NM_178452.6(DNAAF1):c.361C>T (p.Arg121Cys)
|
rs368031148
|
0.00013
|
NM_181426.2(CCDC39):c.1362+13T>C
|
rs369141426
|
0.00013
|
NM_181426.2(CCDC39):c.396G>A (p.Leu132=)
|
rs201923286
|
0.00013
|
NM_198428.3(BBS9):c.2309A>G (p.Glu770Gly)
|
rs149668719
|
0.00013
|
NM_198525.3(KIF7):c.1922+13C>T
|
rs376321790
|
0.00013
|
NM_001044385.3(TMEM237):c.*1151C>T
|
rs188943302
|
0.00012
|
NM_001199397.3(NEK1):c.*459A>C
|
rs1038930121
|
0.00012
|
NM_001277115.2(DNAH11):c.3545G>A (p.Arg1182Gln)
|
rs368316519
|
0.00012
|
NM_001369.3(DNAH5):c.7943C>T (p.Ala2648Val)
|
rs201939338
|
0.00012
|
NM_001369.3(DNAH5):c.8940C>T (p.Ile2980=)
|
rs144001451
|
0.00012
|
NM_001377.3(DYNC2H1):c.10550G>A (p.Arg3517His)
|
rs188113889
|
0.00012
|
NM_001377.3(DYNC2H1):c.11185C>T (p.Pro3729Ser)
|
rs199766341
|
0.00012
|
NM_001377.3(DYNC2H1):c.5177G>A (p.Arg1726Gln)
|
rs564701277
|
0.00012
|
NM_001377.3(DYNC2H1):c.9231+12G>A
|
rs369045696
|
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_012144.4(DNAI1):c.1929C>A (p.Ile643=)
|
rs146434058
|
0.00012
|
NM_014714.4(IFT140):c.2768+12C>T
|
rs756491638
|
0.00012
|
NM_015910.7(WDPCP):c.1310G>T (p.Ser437Ile)
|
rs367727948
|
0.00012
|
NM_017950.4(CCDC40):c.*199G>A
|
rs886053536
|
0.00012
|
NM_017950.4(CCDC40):c.*706T>C
|
rs373188258
|
0.00012
|
NM_017950.4(CCDC40):c.1076G>A (p.Arg359His)
|
rs373746597
|
0.00012
|
NM_019892.6(INPP5E):c.1136G>A (p.Arg379Lys)
|
rs200518324
|
0.00012
|
NM_020800.2(IFT80):c.-392T>G
|
rs886058139
|
0.00012
|
NM_024685.4(BBS10):c.*1250A>G
|
rs182439491
|
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_031885.5(BBS2):c.*91C>T
|
rs148188874
|
0.00012
|
NM_152618.3(BBS12):c.*425C>T
|
rs890616532
|
0.00012
|
NM_153240.5(NPHP3):c.*46A>G
|
rs530016526
|
0.00012
|
NM_153704.6(TMEM67):c.120T>C (p.Ser40=)
|
rs767999682
|
0.00012
|
NM_153717.3(EVC):c.*1369G>A
|
rs1414205292
|
0.00012
|
NM_153717.3(EVC):c.*1403C>T
|
rs547015924
|
0.00012
|
NM_153717.3(EVC):c.-20C>A
|
rs991444136
|
0.00012
|
NM_178452.5(DNAAF1):c.-141G>A
|
rs886052363
|
0.00012
|
NM_178452.6(DNAAF1):c.1030+14C>T
|
rs202113269
|
0.00012
|
NM_178452.6(DNAAF1):c.2082C>T (p.Ala694=)
|
rs769877978
|
0.00012
|
NM_178452.6(DNAAF1):c.2107G>A (p.Gly703Arg)
|
rs4150188
|
0.00012
|
NM_181426.2(CCDC39):c.*734T>C
|
rs148310806
|
0.00012
|
NM_181426.2(CCDC39):c.2615C>A (p.Thr872Lys)
|
rs202027034
|
0.00012
|
NM_001006657.2(WDR35):c.1215A>G (p.Thr405=)
|
rs144673252
|
0.00011
|
NM_001044385.3(TMEM237):c.499A>G (p.Thr167Ala)
|
rs781571059
|
0.00011
|
NM_001134831.2(AHI1):c.82C>T (p.Arg28Cys)
|
rs199612496
|
0.00011
|
NM_001199397.3(NEK1):c.912T>C (p.Pro304=)
|
rs139433990
|
0.00011
|
NM_001277115.2(DNAH11):c.10569-15C>T
|
rs371205337
|
0.00011
|
NM_001277115.2(DNAH11):c.3422A>T (p.Asp1141Val)
|
rs373365959
|
0.00011
|
NM_001277115.2(DNAH11):c.7980A>C (p.Gln2660His)
|
rs752284064
|
0.00011
|
NM_001369.3(DNAH5):c.11376C>T (p.Ala3792=)
|
rs755149967
|
0.00011
|
NM_001369.3(DNAH5):c.13437C>T (p.Cys4479=)
|
rs376510352
|
0.00011
|
NM_001369.3(DNAH5):c.2203G>C (p.Ala735Pro)
|
rs150793327
|
0.00011
|
NM_001369.3(DNAH5):c.3112G>A (p.Val1038Met)
|
rs146828513
|
0.00011
|
NM_001369.3(DNAH5):c.3397-8G>T
|
rs200694593
|
0.00011
|
NM_001369.3(DNAH5):c.3733C>T (p.Arg1245Cys)
|
rs149609746
|
0.00011
|
NM_001369.3(DNAH5):c.7502G>C (p.Arg2501Pro)
|
rs78853309
|
0.00011
|
NM_001377.3(DYNC2H1):c.291T>A (p.Val97=)
|
rs377529350
|
0.00011
|
NM_001377.3(DYNC2H1):c.6139+7C>T
|
rs200749262
|
0.00011
|
NM_001377.3(DYNC2H1):c.7828G>A (p.Val2610Ile)
|
rs566035585
|
0.00011
|
NM_001378615.1(CC2D2A):c.2731T>C (p.Phe911Leu)
|
rs368886216
|
0.00011
|
NM_001378615.1(CC2D2A):c.717+11T>C
|
rs184351317
|
0.00011
|
NM_001384732.1(CPLANE1):c.*872A>C
|
rs886060568
|
0.00011
|
NM_001384732.1(CPLANE1):c.1872C>T (p.Ser624=)
|
rs886060582
|
0.00011
|
NM_001384732.1(CPLANE1):c.4953A>G (p.Val1651=)
|
rs373122844
|
0.00011
|
NM_012210.4(TRIM32):c.409C>T (p.Pro137Ser)
|
rs200997003
|
0.00011
|
NM_014714.4(IFT140):c.2724C>T (p.Ala908=)
|
rs138166567
|
0.00011
|
NM_014714.4(IFT140):c.3668G>C (p.Arg1223Thr)
|
rs751861503
|
0.00011
|
NM_014714.4(IFT140):c.3874-10A>C
|
rs761503137
|
0.00011
|
NM_015102.5(NPHP4):c.2642C>T (p.Ala881Val)
|
rs369335626
|
0.00011
|
NM_015102.5(NPHP4):c.3052G>A (p.Val1018Met)
|
rs201433248
|
0.00011
|
NM_015272.5(RPGRIP1L):c.*588A>G
|
rs894081042
|
0.00011
|
NM_015681.6(B9D1):c.516C>T (p.Asn172=)
|
rs149758860
|
0.00011
|
NM_015910.7(WDPCP):c.160G>A (p.Asp54Asn)
|
rs200322968
|
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_017950.4(CCDC40):c.1221C>T (p.Ile407=)
|
rs760734578
|
0.00011
|
NM_017950.4(CCDC40):c.3021+13G>A
|
rs762011731
|
0.00011
|
NM_018139.3(DNAAF2):c.1315G>C (p.Asp439His)
|
rs371126037
|
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_019892.6(INPP5E):c.-271C>T
|
rs886063714
|
0.00011
|
NM_020779.4(WDR35):c.*2618G>A
|
rs563586298
|
0.00011
|
NM_020800.3(IFT80):c.1678A>G (p.Asn560Asp)
|
rs202145480
|
0.00011
|
NM_020800.3(IFT80):c.879C>T (p.Val293=)
|
rs143660757
|
0.00011
|
NM_023036.6(DNAI2):c.1776G>A (p.Ala592=)
|
rs200861036
|
0.00011
|
NM_024649.5(BBS1):c.981C>T (p.Pro327=)
|
rs142243482
|
0.00011
|
NM_024685.4(BBS10):c.*734G>T
|
rs750187536
|
0.00011
|
NM_024753.5(TTC21B):c.*424A>G
|
rs117664297
|
0.00011
|
NM_024753.5(TTC21B):c.*910C>T
|
rs745335688
|
0.00011
|
NM_024809.5(TCTN2):c.588G>A (p.Thr196=)
|
rs201545344
|
0.00011
|
NM_025114.4(CEP290):c.4088G>A (p.Arg1363Gln)
|
rs188502327
|
0.00011
|
NM_025132.4(WDR19):c.1249+9A>G
|
rs201377206
|
0.00011
|
NM_025132.4(WDR19):c.3027C>T (p.Asp1009=)
|
rs181975379
|
0.00011
|
NM_025132.4(WDR19):c.3683C>G (p.Ala1228Gly)
|
rs201051877
|
0.00011
|
NM_025132.4(WDR19):c.6+5A>G
|
rs201198839
|
0.00011
|
NM_025132.4(WDR19):c.689A>C (p.Asp230Ala)
|
rs202232525
|
0.00011
|
NM_031427.4(DNAL1):c.*2600_*2604del
|
rs770668475
|
0.00011
|
NM_147127.5(EVC2):c.1822C>T (p.Arg608Cys)
|
rs371876802
|
0.00011
|
NM_147127.5(EVC2):c.2864G>A (p.Arg955Gln)
|
rs145786485
|
0.00011
|
NM_153240.5(NPHP3):c.2132A>G (p.Asn711Ser)
|
rs117872197
|
0.00011
|
NM_153717.3(EVC):c.*1568C>T
|
rs886059514
|
0.00011
|
NM_153717.3(EVC):c.2298C>T (p.Asp766=)
|
rs140546984
|
0.00011
|
NM_153717.3(EVC):c.2341G>A (p.Val781Met)
|
rs370514515
|
0.00011
|
NM_153717.3(EVC):c.473C>G (p.Ser158Cys)
|
rs150284356
|
0.00011
|
NM_153717.3(EVC):c.982C>T (p.Leu328Phe)
|
rs199916502
|
0.00011
|
NM_176824.3(BBS7):c.2063A>G (p.Asn688Ser)
|
rs370656021
|
0.00011
|
NM_178452.6(DNAAF1):c.2065+5G>A
|
rs774606576
|
0.00011
|
NM_178452.6(DNAAF1):c.2079C>T (p.Ser693=)
|
rs145469545
|
0.00011
|
NM_178452.6(DNAAF1):c.507G>C (p.Leu169=)
|
rs370128838
|
0.00011
|
NM_181426.2(CCDC39):c.*229G>A
|
rs542764865
|
0.00011
|
NM_181426.2(CCDC39):c.*791C>T
|
rs755506263
|
0.00011
|
NM_181426.2(CCDC39):c.1034+11A>G
|
rs780737889
|
0.00011
|
NM_181426.2(CCDC39):c.210+4C>T
|
rs182803063
|
0.00011
|
NM_181426.2(CCDC39):c.2558G>A (p.Arg853His)
|
rs147183244
|
0.00011
|
NM_181426.2(CCDC39):c.885G>A (p.Thr295=)
|
rs775454434
|
0.00011
|
NM_198525.3(KIF7):c.1297C>A (p.Pro433Thr)
|
rs932033181
|
0.00011
|
NM_198525.3(KIF7):c.1390A>G (p.Ile464Val)
|
rs570856269
|
0.00011
|
NM_198525.3(KIF7):c.2364G>C (p.Arg788Ser)
|
rs117123311
|
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_001134831.2(AHI1):c.3033A>G (p.Ser1011=)
|
rs372030704
|
0.00010
|
NM_001199397.3(NEK1):c.*641T>C
|
rs960594763
|
0.00010
|
NM_001199397.3(NEK1):c.642G>A (p.Lys214=)
|
rs369725706
|
0.00010
|
NM_001277115.2(DNAH11):c.5318A>G (p.His1773Arg)
|
rs200295318
|
0.00010
|
NM_001369.3(DNAH5):c.*1506G>A
|
rs574438524
|
0.00010
|
NM_001369.3(DNAH5):c.10036A>G (p.Thr3346Ala)
|
rs141971313
|
0.00010
|
NM_001369.3(DNAH5):c.12546G>A (p.Lys4182=)
|
rs146330391
|
0.00010
|
NM_001369.3(DNAH5):c.2400G>A (p.Glu800=)
|
rs199951976
|
0.00010
|
NM_001369.3(DNAH5):c.7881G>A (p.Met2627Ile)
|
rs369279743
|
0.00010
|
NM_001369.3(DNAH5):c.8765G>A (p.Arg2922His)
|
rs148539877
|
0.00010
|
NM_001377.3(DYNC2H1):c.10876G>A (p.Val3626Met)
|
rs201852557
|
0.00010
|
NM_001377.3(DYNC2H1):c.8585G>A (p.Cys2862Tyr)
|
rs368447956
|
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_001384732.1(CPLANE1):c.*408G>A
|
rs145945346
|
0.00010
|
NM_001384732.1(CPLANE1):c.3747C>T (p.Ile1249=)
|
rs145484347
|
0.00010
|
NM_001384732.1(CPLANE1):c.5593A>C (p.Asn1865His)
|
rs199524299
|
0.00010
|
NM_012210.4(TRIM32):c.*1354C>A
|
rs763188009
|
0.00010
|
NM_014714.4(IFT140):c.*118G>A
|
rs372303683
|
0.00010
|
NM_014714.4(IFT140):c.1975C>T (p.Arg659Trp)
|
rs749099710
|
0.00010
|
NM_015102.5(NPHP4):c.-52G>T
|
rs886046468
|
0.00010
|
NM_015102.5(NPHP4):c.1126T>G (p.Ser376Ala)
|
rs199561679
|
0.00010
|
NM_015272.5(RPGRIP1L):c.*1207G>A
|
rs561880798
|
0.00010
|
NM_015910.7(WDPCP):c.2179G>A (p.Gly727Ser)
|
rs369786224
|
0.00010
|
NM_015910.7(WDPCP):c.868C>T (p.Arg290Cys)
|
rs374934704
|
0.00010
|
NM_016464.5(TMEM138):c.*92G>C
|
rs372997712
|
0.00010
|
NM_017950.4(CCDC40):c.2293G>A (p.Glu765Lys)
|
rs199850214
|
0.00010
|
NM_017950.4(CCDC40):c.257A>G (p.Tyr86Cys)
|
rs202220442
|
0.00010
|
NM_017950.4(CCDC40):c.3027C>T (p.Thr1009=)
|
rs79588289
|
0.00010
|
NM_017950.4(CCDC40):c.966C>T (p.Ala322=)
|
rs369089505
|
0.00010
|
NM_018718.3(CEP41):c.422+6C>T
|
rs199678365
|
0.00010
|
NM_020800.2(IFT80):c.-410G>T
|
rs113776466
|
0.00010
|
NM_023036.6(DNAI2):c.-21C>T
|
rs753355539
|
0.00010
|
NM_024685.4(BBS10):c.-48C>G
|
rs752162179
|
0.00010
|
NM_024685.4(BBS10):c.1590A>C (p.Arg530Ser)
|
rs146812823
|
0.00010
|
NM_024753.5(TTC21B):c.1637C>T (p.Ser546Phe)
|
rs140323384
|
0.00010
|
NM_025114.4(CEP290):c.5284C>T (p.Arg1762Cys)
|
rs373307908
|
0.00010
|
NM_025132.4(WDR19):c.1064A>T (p.Asp355Val)
|
rs192495145
|
0.00010
|
NM_025132.4(WDR19):c.1775A>G (p.Gln592Arg)
|
rs190192706
|
0.00010
|
NM_031885.5(BBS2):c.642C>T (p.Gly214=)
|
rs141563594
|
0.00010
|
NM_031885.5(BBS2):c.823C>T (p.Arg275Ter)
|
rs121908177
|
0.00010
|
NM_147127.5(EVC2):c.2340C>T (p.His780=)
|
rs150691722
|
0.00010
|
NM_152618.3(BBS12):c.1261C>A (p.Arg421Ser)
|
rs199596849
|
0.00010
|
NM_152732.5(RSPH9):c.415C>T (p.Arg139Cys)
|
rs368519003
|
0.00010
|
NM_153717.3(EVC):c.*2847G>A
|
rs935054019
|
0.00010
|
NM_153717.3(EVC):c.*355C>G
|
rs933138943
|
0.00010
|
NM_153717.3(EVC):c.677C>T (p.Thr226Met)
|
rs201583621
|
0.00010
|
NM_178452.6(DNAAF1):c.1173G>A (p.Pro391=)
|
rs370819090
|
0.00010
|
NM_181426.2(CCDC39):c.1896A>G (p.Leu632=)
|
rs79353057
|
0.00010
|
NM_198428.3(BBS9):c.195C>T (p.Ala65=)
|
rs373063776
|
0.00010
|
NM_198525.3(KIF7):c.1576G>A (p.Glu526Lys)
|
rs1436845524
|
0.00010
|
NM_198525.3(KIF7):c.3759C>G (p.Pro1253=)
|
rs147767277
|
0.00010
|
NM_198525.3(KIF7):c.698G>A (p.Ser233Asn)
|
rs1227236239
|
0.00010
|
NM_000272.3(NPHP1):c.-54C>T
|
rs777453061
|
0.00009
|
NM_001010892.3(RSPH4A):c.1334C>T (p.Pro445Leu)
|
rs139677155
|
0.00009
|
NM_001010892.3(RSPH4A):c.1828C>T (p.Arg610Trp)
|
rs149268378
|
0.00009
|
NM_001010892.3(RSPH4A):c.237A>G (p.Thr79=)
|
rs145831200
|
0.00009
|
NM_001023570.4(IQCB1):c.*151T>C
|
rs1019317263
|
0.00009
|
NM_001044385.3(TMEM237):c.*492T>C
|
rs530304720
|
0.00009
|
NM_001044385.3(TMEM237):c.-61G>A
|
rs571550977
|
0.00009
|
NM_001134831.2(AHI1):c.*447T>A
|
rs886061106
|
0.00009
|
NM_001134831.2(AHI1):c.2945G>T (p.Arg982Met)
|
rs370400336
|
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_001199397.3(NEK1):c.2421C>T (p.Phe807=)
|
rs56346829
|
0.00009
|
NM_001277115.2(DNAH11):c.10121A>G (p.Lys3374Arg)
|
rs763155183
|
0.00009
|
NM_001277115.2(DNAH11):c.10380G>A (p.Thr3460=)
|
rs535847014
|
0.00009
|
NM_001277115.2(DNAH11):c.12534A>G (p.Pro4178=)
|
rs752183095
|
0.00009
|
NM_001277115.2(DNAH11):c.1567T>C (p.Tyr523His)
|
rs200126117
|
0.00009
|
NM_001369.3(DNAH5):c.*920A>G
|
rs1386874771
|
0.00009
|
NM_001369.3(DNAH5):c.12123A>C (p.Pro4041=)
|
rs149580135
|
0.00009
|
NM_001369.3(DNAH5):c.12251G>A (p.Arg4084Gln)
|
rs140832239
|
0.00009
|
NM_001369.3(DNAH5):c.13070C>G (p.Ala4357Gly)
|
rs368776967
|
0.00009
|
NM_001369.3(DNAH5):c.13591G>A (p.Glu4531Lys)
|
rs201242847
|
0.00009
|
NM_001369.3(DNAH5):c.1362A>G (p.Lys454=)
|
rs371157628
|
0.00009
|
NM_001369.3(DNAH5):c.393C>T (p.Ile131=)
|
rs202190908
|
0.00009
|
NM_001369.3(DNAH5):c.6970A>G (p.Thr2324Ala)
|
rs143074036
|
0.00009
|
NM_001377.3(DYNC2H1):c.12316T>G (p.Leu4106Val)
|
rs139902197
|
0.00009
|
NM_001377.3(DYNC2H1):c.2479A>G (p.Ile827Val)
|
rs201224700
|
0.00009
|
NM_001377.3(DYNC2H1):c.8041A>G (p.Ile2681Val)
|
rs201540484
|
0.00009
|
NM_001377.3(DYNC2H1):c.8833-3T>C
|
rs551227065
|
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.922T>C (p.Phe308Leu)
|
rs201465430
|
0.00009
|
NM_001384732.1(CPLANE1):c.608A>G (p.Tyr203Cys)
|
rs144969169
|
0.00009
|
NM_012144.4(DNAI1):c.-83G>C
|
rs766124282
|
0.00009
|
NM_012144.4(DNAI1):c.638C>T (p.Thr213Met)
|
rs201754555
|
0.00009
|
NM_012472.6(DNAAF11):c.27T>G (p.Ile9Met)
|
rs200906172
|
0.00009
|
NM_012472.6(DNAAF11):c.299T>C (p.Ile100Thr)
|
rs139008774
|
0.00009
|
NM_014714.4(IFT140):c.*430G>A
|
rs532233762
|
0.00009
|
NM_014714.4(IFT140):c.2542C>T (p.Arg848Cys)
|
rs201384469
|
0.00009
|
NM_014714.4(IFT140):c.4354G>A (p.Glu1452Lys)
|
rs142106374
|
0.00009
|
NM_015102.5(NPHP4):c.1668C>T (p.Thr556=)
|
rs753733095
|
0.00009
|
NM_015102.5(NPHP4):c.176G>A (p.Arg59Gln)
|
rs200128117
|
0.00009
|
NM_015102.5(NPHP4):c.3046G>A (p.Val1016Ile)
|
rs200702924
|
0.00009
|
NM_015102.5(NPHP4):c.3267C>T (p.Asp1089=)
|
rs187149431
|
0.00009
|
NM_015102.5(NPHP4):c.3445C>T (p.Arg1149Cys)
|
rs201605415
|
0.00009
|
NM_015272.5(RPGRIP1L):c.*1883C>G
|
rs886052086
|
0.00009
|
NM_015272.5(RPGRIP1L):c.962G>A (p.Arg321His)
|
rs183419371
|
0.00009
|
NM_015910.7(WDPCP):c.*541C>G
|
rs532612381
|
0.00009
|
NM_015910.7(WDPCP):c.2159-13T>C
|
rs202221613
|
0.00009
|
NM_015910.7(WDPCP):c.990A>G (p.Ser330=)
|
rs371090606
|
0.00009
|
NM_017777.4(MKS1):c.1640C>T (p.Pro547Leu)
|
rs771585740
|
0.00009
|
NM_017950.4(CCDC40):c.1105G>A (p.Ala369Thr)
|
rs371071557
|
0.00009
|
NM_017950.4(CCDC40):c.1468G>A (p.Val490Met)
|
rs200902099
|
0.00009
|
NM_018139.3(DNAAF2):c.1468A>G (p.Ser490Gly)
|
rs367597118
|
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_019892.6(INPP5E):c.304G>T (p.Asp102Tyr)
|
rs187724945
|
0.00009
|
NM_020779.4(WDR35):c.*2559A>G
|
rs751743368
|
0.00009
|
NM_020779.4(WDR35):c.*2887T>C
|
rs749198501
|
0.00009
|
NM_020779.4(WDR35):c.*712A>T
|
rs572859023
|
0.00009
|
NM_020800.2(IFT80):c.-376G>C
|
rs886058138
|
0.00009
|
NM_020800.3(IFT80):c.*318C>T
|
rs1044166523
|
0.00009
|
NM_020800.3(IFT80):c.2289A>G (p.Gln763=)
|
rs142438830
|
0.00009
|
NM_020800.3(IFT80):c.707C>T (p.Ala236Val)
|
rs774857269
|
0.00009
|
NM_024649.5(BBS1):c.1110+15C>T
|
rs371084544
|
0.00009
|
NM_024649.5(BBS1):c.1634A>G (p.Asn545Ser)
|
rs148948642
|
0.00009
|
NM_024649.5(BBS1):c.6C>T (p.Ala2=)
|
rs143592479
|
0.00009
|
NM_024685.4(BBS10):c.1333C>A (p.Leu445Ile)
|
rs199878555
|
0.00009
|
NM_024753.5(TTC21B):c.14A>C (p.Glu5Ala)
|
rs778812789
|
0.00009
|
NM_024753.5(TTC21B):c.2895A>T (p.Lys965Asn)
|
rs146201603
|
0.00009
|
NM_024753.5(TTC21B):c.783G>T (p.Gly261=)
|
rs200255917
|
0.00009
|
NM_024809.5(TCTN2):c.1699C>T (p.Arg567Cys)
|
rs369121651
|
0.00009
|
NM_024809.5(TCTN2):c.1712C>T (p.Ser571Leu)
|
rs372687837
|
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_025132.4(WDR19):c.2364-15T>C
|
rs771036360
|
0.00009
|
NM_033028.5(BBS4):c.329C>G (p.Ser110Cys)
|
rs144696430
|
0.00009
|
NM_147127.5(EVC2):c.3382C>A (p.Leu1128Met)
|
rs200105743
|
0.00009
|
NM_152618.3(BBS12):c.-157C>T
|
rs886059055
|
0.00009
|
NM_153240.5(NPHP3):c.3763C>T (p.Arg1255Trp)
|
rs146054765
|
0.00009
|
NM_153704.6(TMEM67):c.1511C>A (p.Ser504Tyr)
|
rs114655330
|
0.00009
|
NM_153717.3(EVC):c.2278C>T (p.Arg760Trp)
|
rs200479973
|
0.00009
|
NM_153717.3(EVC):c.2752A>G (p.Lys918Glu)
|
rs780968816
|
0.00009
|
NM_153717.3(EVC):c.899A>C (p.Glu300Ala)
|
rs149529742
|
0.00009
|
NM_170784.3(MKKS):c.*21A>G
|
rs532973454
|
0.00009
|
NM_176824.3(BBS7):c.*724C>T
|
rs1025886041
|
0.00009
|
NM_176824.3(BBS7):c.1381A>G (p.Ile461Val)
|
rs141224967
|
0.00009
|
NM_178452.6(DNAAF1):c.1735T>C (p.Leu579=)
|
rs764511452
|
0.00009
|
NM_181426.2(CCDC39):c.1728C>T (p.His576=)
|
rs376737530
|
0.00009
|
NM_198428.3(BBS9):c.2509A>G (p.Met837Val)
|
rs771310981
|
0.00009
|
NM_198428.3(BBS9):c.678A>G (p.Lys226=)
|
rs201231133
|
0.00009
|
NM_198525.3(KIF7):c.3973C>T (p.Arg1325Trp)
|
rs777140020
|
0.00009
|
NM_000272.4(NPHP1):c.*460T>A
|
rs960612307
|
0.00008
|
NM_001023570.4(IQCB1):c.-12-4A>T
|
rs760242984
|
0.00008
|
NM_001277115.2(DNAH11):c.11081A>T (p.Asn3694Ile)
|
rs528354205
|
0.00008
|
NM_001277115.2(DNAH11):c.3649-14C>G
|
rs750945230
|
0.00008
|
NM_001277115.2(DNAH11):c.4012-8G>A
|
rs374349753
|
0.00008
|
NM_001277115.2(DNAH11):c.845T>C (p.Met282Thr)
|
rs747087320
|
0.00008
|
NM_001369.3(DNAH5):c.12105G>A (p.Thr4035=)
|
rs199735129
|
0.00008
|
NM_001369.3(DNAH5):c.3202G>C (p.Ala1068Pro)
|
rs200249508
|
0.00008
|
NM_001369.3(DNAH5):c.56C>T (p.Thr19Met)
|
rs757712771
|
0.00008
|
NM_001369.3(DNAH5):c.5848A>G (p.Thr1950Ala)
|
rs368863709
|
0.00008
|
NM_001369.3(DNAH5):c.7867A>G (p.Thr2623Ala)
|
rs371099382
|
0.00008
|
NM_001369.3(DNAH5):c.8828G>A (p.Arg2943His)
|
rs184758570
|
0.00008
|
NM_001369.3(DNAH5):c.946C>T (p.Leu316Phe)
|
rs201706790
|
0.00008
|
NM_001377.3(DYNC2H1):c.12389A>G (p.Lys4130Arg)
|
rs368043505
|
0.00008
|
NM_001377.3(DYNC2H1):c.1662-3T>C
|
rs548328948
|
0.00008
|
NM_001377.3(DYNC2H1):c.1732C>G (p.Arg578Gly)
|
rs776317704
|
0.00008
|
NM_001377.3(DYNC2H1):c.7597C>T (p.Arg2533Cys)
|
rs754889986
|
0.00008
|
NM_001384732.1(CPLANE1):c.*813A>G
|
rs187198752
|
0.00008
|
NM_001384732.1(CPLANE1):c.8474C>T (p.Thr2825Ile)
|
rs142316931
|
0.00008
|
NM_001384732.1(CPLANE1):c.9031G>A (p.Glu3011Lys)
|
rs200358545
|
0.00008
|
NM_012210.4(TRIM32):c.*1246T>C
|
rs573622329
|
0.00008
|
NM_012210.4(TRIM32):c.27G>C (p.Leu9=)
|
rs201891227
|
0.00008
|
NM_014714.4(IFT140):c.1646C>T (p.Ser549Phe)
|
rs751137317
|
0.00008
|
NM_014714.4(IFT140):c.1649G>A (p.Arg550Gln)
|
rs762399912
|
0.00008
|
NM_014714.4(IFT140):c.634G>A (p.Gly212Arg)
|
rs201188361
|
0.00008
|
NM_015102.5(NPHP4):c.1923C>T (p.Asn641=)
|
rs372430727
|
0.00008
|
NM_015102.5(NPHP4):c.2723C>T (p.Ser908Leu)
|
rs543726103
|
0.00008
|
NM_015272.5(RPGRIP1L):c.292G>A (p.Gly98Ser)
|
rs202124667
|
0.00008
|
NM_015910.7(WDPCP):c.-176G>C
|
rs151273399
|
0.00008
|
NM_015910.7(WDPCP):c.878C>G (p.Thr293Ser)
|
rs765923597
|
0.00008
|
NM_016464.5(TMEM138):c.463A>G (p.Lys155Glu)
|
rs773659373
|
0.00008
|
NM_017950.4(CCDC40):c.1806+15G>A
|
rs767093580
|
0.00008
|
NM_017950.4(CCDC40):c.28C>G (p.Arg10Gly)
|
rs377599647
|
0.00008
|
NM_018718.3(CEP41):c.*3965A>G
|
rs781992723
|
0.00008
|
NM_020779.4(WDR35):c.*563T>G
|
rs561642193
|
0.00008
|
NM_020779.4(WDR35):c.66G>T (p.Trp22Cys)
|
rs201860485
|
0.00008
|
NM_020800.2(IFT80):c.-243G>A
|
rs559709322
|
0.00008
|
NM_020800.3(IFT80):c.*1222T>C
|
rs888235238
|
0.00008
|
NM_020800.3(IFT80):c.*944A>G
|
rs976734188
|
0.00008
|
NM_020800.3(IFT80):c.691C>T (p.Pro231Ser)
|
rs149447674
|
0.00008
|
NM_020800.3(IFT80):c.804C>T (p.Asn268=)
|
rs375407595
|
0.00008
|
NM_023036.6(DNAI2):c.1304G>A (p.Trp435Ter)
|
rs752924362
|
0.00008
|
NM_024685.4(BBS10):c.1028G>A (p.Arg343Gln)
|
rs201335653
|
0.00008
|
NM_024753.5(TTC21B):c.795+3A>G
|
rs753275145
|
0.00008
|
NM_024809.5(TCTN2):c.564+3A>C
|
rs761089886
|
0.00008
|
NM_025132.4(WDR19):c.1357-7G>A
|
rs377101599
|
0.00008
|
NM_025132.4(WDR19):c.3436G>A (p.Glu1146Lys)
|
rs779635441
|
0.00008
|
NM_031885.3(BBS2):c.-208G>A
|
rs977994154
|
0.00008
|
NM_144596.4(TTC8):c.267C>A (p.Arg89=)
|
rs200113889
|
0.00008
|
NM_144596.4(TTC8):c.905A>G (p.Tyr302Cys)
|
rs370111364
|
0.00008
|
NM_147127.5(EVC2):c.690C>G (p.Ser230Arg)
|
rs200743695
|
0.00008
|
NM_153240.5(NPHP3):c.1891G>A (p.Val631Ile)
|
rs765722959
|
0.00008
|
NM_153717.3(EVC):c.1564-6C>T
|
rs188245524
|
0.00008
|
NM_153717.3(EVC):c.2102C>T (p.Ala701Val)
|
rs571809727
|
0.00008
|
NM_153717.3(EVC):c.2126G>A (p.Arg709Gln)
|
rs752020764
|
0.00008
|
NM_176824.3(BBS7):c.*1139T>C
|
rs542533305
|
0.00008
|
NM_176824.3(BBS7):c.1311C>T (p.Asn437=)
|
rs199812109
|
0.00008
|
NM_178452.6(DNAAF1):c.2155T>C (p.Phe719Leu)
|
rs201263027
|
0.00008
|
NM_198428.3(BBS9):c.1538-9G>T
|
rs770317221
|
0.00008
|
NM_198525.3(KIF7):c.3225G>A (p.Ser1075=)
|
rs375802364
|
0.00008
|
NM_198525.3(KIF7):c.3871G>A (p.Glu1291Lys)
|
rs751191936
|
0.00008
|
NM_001010892.3(RSPH4A):c.-88A>G
|
rs780704629
|
0.00007
|
NM_001010892.3(RSPH4A):c.1563T>C (p.Asn521=)
|
rs143732959
|
0.00007
|
NM_001134831.2(AHI1):c.1694G>A (p.Arg565His)
|
rs372894716
|
0.00007
|
NM_001173990.3(TMEM216):c.*525T>G
|
rs982189283
|
0.00007
|
NM_001199397.3(NEK1):c.1140+4G>A
|
rs369300755
|
0.00007
|
NM_001277115.2(DNAH11):c.1170G>A (p.Glu390=)
|
rs776924184
|
0.00007
|
NM_001277115.2(DNAH11):c.12406C>T (p.Arg4136Cys)
|
rs368992056
|
0.00007
|
NM_001277115.2(DNAH11):c.1848G>A (p.Gln616=)
|
rs369146775
|
0.00007
|
NM_001277115.2(DNAH11):c.6662C>T (p.Thr2221Ile)
|
rs373624232
|
0.00007
|
NM_001277115.2(DNAH11):c.6983C>T (p.Pro2328Leu)
|
rs745645801
|
0.00007
|
NM_001277115.2(DNAH11):c.8316+7G>A
|
rs369837420
|
0.00007
|
NM_001277115.2(DNAH11):c.9103-15T>C
|
rs551974653
|
0.00007
|
NM_001369.3(DNAH5):c.*1361G>T
|
rs886059930
|
0.00007
|
NM_001369.3(DNAH5):c.*281T>C
|
rs936169293
|
0.00007
|
NM_001369.3(DNAH5):c.11969C>A (p.Ser3990Tyr)
|
rs1000624148
|
0.00007
|
NM_001369.3(DNAH5):c.11998A>T (p.Ile4000Phe)
|
rs1490888369
|
0.00007
|
NM_001377.3(DYNC2H1):c.*435A>G
|
rs1026849744
|
0.00007
|
NM_001377.3(DYNC2H1):c.11287G>A (p.Ala3763Thr)
|
rs780426783
|
0.00007
|
NM_001378615.1(CC2D2A):c.4238G>A (p.Cys1413Tyr)
|
rs146843542
|
0.00007
|
NM_001384732.1(CPLANE1):c.3428G>A (p.Arg1143Lys)
|
rs377503881
|
0.00007
|
NM_001384732.1(CPLANE1):c.9155C>G (p.Ser3052Cys)
|
rs557372169
|
0.00007
|
NM_012144.4(DNAI1):c.1291C>G (p.His431Asp)
|
rs756877115
|
0.00007
|
NM_014714.4(IFT140):c.1010-10C>T
|
rs376722338
|
0.00007
|
NM_014714.4(IFT140):c.1653-14C>T
|
rs148433720
|
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_015681.6(B9D1):c.597C>G (p.Pro199=)
|
rs753785719
|
0.00007
|
NM_018139.3(DNAAF2):c.1719A>G (p.Gln573=)
|
rs370699646
|
0.00007
|
NM_018139.3(DNAAF2):c.384C>A (p.Gly128=)
|
rs200484042
|
0.00007
|
NM_018718.3(CEP41):c.*1284A>G
|
rs376297063
|
0.00007
|
NM_018718.3(CEP41):c.*1336A>G
|
rs781954428
|
0.00007
|
NM_019892.6(INPP5E):c.1384G>A (p.Ala462Thr)
|
rs200837258
|
0.00007
|
NM_020779.4(WDR35):c.*1146T>C
|
rs1036362475
|
0.00007
|
NM_020779.4(WDR35):c.*1207C>G
|
rs1466981368
|
0.00007
|
NM_020779.4(WDR35):c.3460C>G (p.Gln1154Glu)
|
rs774768083
|
0.00007
|
NM_020800.3(IFT80):c.2224-9C>T
|
rs752574778
|
0.00007
|
NM_023036.6(DNAI2):c.134A>G (p.Asn45Ser)
|
rs148073122
|
0.00007
|
NM_023036.6(DNAI2):c.284G>A (p.Arg95His)
|
rs201521142
|
0.00007
|
NM_023036.6(DNAI2):c.610+12C>T
|
rs374447879
|
0.00007
|
NM_024685.4(BBS10):c.375G>A (p.Arg125=)
|
rs376030299
|
0.00007
|
NM_024753.5(TTC21B):c.876A>G (p.Thr292=)
|
rs185247361
|
0.00007
|
NM_025114.4(CEP290):c.343A>G (p.Asn115Asp)
|
rs140236736
|
0.00007
|
NM_025132.4(WDR19):c.1839A>G (p.Leu613=)
|
rs201320006
|
0.00007
|
NM_025132.4(WDR19):c.479A>G (p.Lys160Arg)
|
rs756321262
|
0.00007
|
NM_033028.5(BBS4):c.405+7A>G
|
rs778651927
|
0.00007
|
NM_153240.5(NPHP3):c.*231A>T
|
rs753577987
|
0.00007
|
NM_153240.5(NPHP3):c.1533A>T (p.Gln511His)
|
rs368126549
|
0.00007
|
NM_153240.5(NPHP3):c.2986G>A (p.Val996Met)
|
rs150867534
|
0.00007
|
NM_153704.6(TMEM67):c.2907+9T>C
|
rs372865972
|
0.00007
|
NM_153717.3(EVC):c.*662G>A
|
rs866110948
|
0.00007
|
NM_153717.3(EVC):c.2654A>G (p.Asp885Gly)
|
rs540660500
|
0.00007
|
NM_176824.3(BBS7):c.*932T>G
|
rs3217755
|
0.00007
|
NM_181426.2(CCDC39):c.1176T>C (p.Asp392=)
|
rs749497447
|
0.00007
|
NM_181426.2(CCDC39):c.1833G>A (p.Ala611=)
|
rs371164022
|
0.00007
|
NM_181426.2(CCDC39):c.2549C>G (p.Thr850Ser)
|
rs201996796
|
0.00007
|
NM_198525.3(KIF7):c.1177G>T (p.Gly393Cys)
|
rs553968087
|
0.00007
|
NM_001010892.3(RSPH4A):c.1247C>T (p.Ala416Val)
|
rs61738662
|
0.00006
|
NM_001010892.3(RSPH4A):c.1748T>C (p.Ile583Thr)
|
rs141807210
|
0.00006
|
NM_001023570.4(IQCB1):c.1509C>G (p.Ala503=)
|
rs149259534
|
0.00006
|
NM_001023570.4(IQCB1):c.1611C>T (p.Leu537=)
|
rs373762948
|
0.00006
|
NM_001044385.3(TMEM237):c.*1560C>T
|
rs983166297
|
0.00006
|
NM_001044385.3(TMEM237):c.*3992A>G
|
rs768173661
|
0.00006
|
NM_001082538.3(TCTN1):c.880C>T (p.Leu294=)
|
rs371899538
|
0.00006
|
NM_001128178.3(NPHP1):c.1761+5A>C
|
rs201030203
|
0.00006
|
NM_001134831.2(AHI1):c.10+13T>C
|
rs973391845
|
0.00006
|
NM_001134831.2(AHI1):c.1680A>G (p.Pro560=)
|
rs200949030
|
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_001173990.3(TMEM216):c.*372C>T
|
rs565159932
|
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_001277115.2(DNAH11):c.2328G>A (p.Thr776=)
|
rs372387032
|
0.00006
|
NM_001277115.2(DNAH11):c.3470T>G (p.Leu1157Arg)
|
rs117830543
|
0.00006
|
NM_001277115.2(DNAH11):c.3786A>G (p.Arg1262=)
|
rs756045492
|
0.00006
|
NM_001277115.2(DNAH11):c.6664C>G (p.Arg2222Gly)
|
rs773498002
|
0.00006
|
NM_001277115.2(DNAH11):c.7292G>T (p.Ser2431Ile)
|
rs185039462
|
0.00006
|
NM_001277115.2(DNAH11):c.9280G>A (p.Glu3094Lys)
|
rs368259931
|
0.00006
|
NM_001277115.2(DNAH11):c.991G>A (p.Glu331Lys)
|
rs550602612
|
0.00006
|
NM_001278293.3(ARL6):c.365G>A (p.Arg122Gln)
|
rs142258123
|
0.00006
|
NM_001369.3(DNAH5):c.10377C>T (p.Asp3459=)
|
rs139317626
|
0.00006
|
NM_001369.3(DNAH5):c.10593T>A (p.Ser3531=)
|
rs200974254
|
0.00006
|
NM_001369.3(DNAH5):c.13155A>T (p.Pro4385=)
|
rs202103048
|
0.00006
|
NM_001369.3(DNAH5):c.13448C>T (p.Thr4483Met)
|
rs141828476
|
0.00006
|
NM_001369.3(DNAH5):c.2235C>T (p.Tyr745=)
|
rs139916610
|
0.00006
|
NM_001369.3(DNAH5):c.4071C>T (p.Ser1357=)
|
rs201264488
|
0.00006
|
NM_001369.3(DNAH5):c.4262G>A (p.Ser1421Asn)
|
rs774855042
|
0.00006
|
NM_001369.3(DNAH5):c.4614G>A (p.Ala1538=)
|
rs78667898
|
0.00006
|
NM_001369.3(DNAH5):c.6249G>A (p.Met2083Ile)
|
rs753614861
|
0.00006
|
NM_001369.3(DNAH5):c.7091G>C (p.Gly2364Ala)
|
rs373657849
|
0.00006
|
NM_001369.3(DNAH5):c.7452C>A (p.Phe2484Leu)
|
rs561666802
|
0.00006
|
NM_001369.3(DNAH5):c.7752+3A>G
|
rs200385399
|
0.00006
|
NM_001377.3(DYNC2H1):c.12854A>G (p.Asp4285Gly)
|
rs886047583
|
0.00006
|
NM_001377.3(DYNC2H1):c.2005A>G (p.Lys669Glu)
|
rs189533535
|
0.00006
|
NM_001377.3(DYNC2H1):c.3138C>G (p.Ile1046Met)
|
rs377076883
|
0.00006
|
NM_001377.3(DYNC2H1):c.8539+5T>C
|
rs765643615
|
0.00006
|
NM_001377.3(DYNC2H1):c.9349G>A (p.Glu3117Lys)
|
rs200870508
|
0.00006
|
NM_001378454.1(ALMS1):c.6458A>G (p.Gln2153Arg)
|
rs534635095
|
0.00006
|
NM_001378615.1(CC2D2A):c.3176C>A (p.Ala1059Glu)
|
rs200034384
|
0.00006
|
NM_001384732.1(CPLANE1):c.*1318A>G
|
rs145399031
|
0.00006
|
NM_001384732.1(CPLANE1):c.1123C>T (p.Pro375Ser)
|
rs774016809
|
0.00006
|
NM_001384732.1(CPLANE1):c.1680G>A (p.Glu560=)
|
rs749473632
|
0.00006
|
NM_001384732.1(CPLANE1):c.4355C>T (p.Ser1452Phe)
|
rs138792462
|
0.00006
|
NM_001384732.1(CPLANE1):c.9044G>A (p.Arg3015His)
|
rs771622959
|
0.00006
|
NM_001384732.1(CPLANE1):c.9252G>A (p.Pro3084=)
|
rs371595122
|
0.00006
|
NM_012144.4(DNAI1):c.1407G>T (p.Lys469Asn)
|
rs189377425
|
0.00006
|
NM_012144.4(DNAI1):c.1644G>A (p.Trp548Ter)
|
rs200669099
|
0.00006
|
NM_012144.4(DNAI1):c.358C>T (p.Arg120Trp)
|
rs766328772
|
0.00006
|
NM_012210.4(TRIM32):c.*1424C>G
|
rs886473067
|
0.00006
|
NM_012210.4(TRIM32):c.480G>A (p.Met160Ile)
|
rs200196832
|
0.00006
|
NM_012472.6(DNAAF11):c.974+14C>A
|
rs780037666
|
0.00006
|
NM_014714.4(IFT140):c.2423C>T (p.Ala808Val)
|
rs748463111
|
0.00006
|
NM_014714.4(IFT140):c.2645C>T (p.Ala882Val)
|
rs200394007
|
0.00006
|
NM_014714.4(IFT140):c.3490A>G (p.Met1164Val)
|
rs369425839
|
0.00006
|
NM_014714.4(IFT140):c.3580C>G (p.Gln1194Glu)
|
rs555330165
|
0.00006
|
NM_014714.4(IFT140):c.4266C>T (p.Ala1422=)
|
rs149359139
|
0.00006
|
NM_014714.4(IFT140):c.778C>T (p.Pro260Ser)
|
rs369671309
|
0.00006
|
NM_015102.5(NPHP4):c.1088T>G (p.Val363Gly)
|
rs369344801
|
0.00006
|
NM_015102.5(NPHP4):c.1166T>C (p.Val389Ala)
|
rs368324380
|
0.00006
|
NM_015102.5(NPHP4):c.1490C>G (p.Pro497Arg)
|
rs375051705
|
0.00006
|
NM_015102.5(NPHP4):c.2198G>A (p.Gly733Asp)
|
rs587783027
|
0.00006
|
NM_015102.5(NPHP4):c.3231+5G>A
|
rs886046460
|
0.00006
|
NM_015102.5(NPHP4):c.3703C>T (p.Arg1235Cys)
|
rs774386141
|
0.00006
|
NM_015102.5(NPHP4):c.3960C>T (p.Leu1320=)
|
rs778306754
|
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.*901A>G
|
rs750903762
|
0.00006
|
NM_015272.5(RPGRIP1L):c.*980T>C
|
rs886052087
|
0.00006
|
NM_015910.6(WDPCP):c.-227C>G
|
rs376940318
|
0.00006
|
NM_015910.7(WDPCP):c.209-1G>A
|
rs767481770
|
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_017777.4(MKS1):c.10A>T (p.Thr4Ser)
|
rs928775924
|
0.00006
|
NM_017777.4(MKS1):c.729G>A (p.Thr243=)
|
rs373491923
|
0.00006
|
NM_017950.4(CCDC40):c.1372G>A (p.Ala458Thr)
|
rs372976809
|
0.00006
|
NM_017950.4(CCDC40):c.1883C>T (p.Thr628Met)
|
rs376363442
|
0.00006
|
NM_017950.4(CCDC40):c.2609G>A (p.Arg870His)
|
rs373717036
|
0.00006
|
NM_018139.3(DNAAF2):c.1781C>T (p.Ala594Val)
|
rs181040532
|
0.00006
|
NM_018139.3(DNAAF2):c.270G>C (p.Val90=)
|
rs767758073
|
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.320C>G (p.Ala107Gly)
|
rs141025803
|
0.00006
|
NM_018719.5(CDCA7L):c.*887G>A
|
rs886062191
|
0.00006
|
NM_019892.6(INPP5E):c.1104C>T (p.His368=)
|
rs148592275
|
0.00006
|
NM_019892.6(INPP5E):c.1325C>T (p.Thr442Ile)
|
rs201043370
|
0.00006
|
NM_019892.6(INPP5E):c.1380C>T (p.Ser460=)
|
rs145543466
|
0.00006
|
NM_020779.4(WDR35):c.1250A>T (p.Asp417Val)
|
rs371757004
|
0.00006
|
NM_020779.4(WDR35):c.1376G>A (p.Arg459Gln)
|
rs146380332
|
0.00006
|
NM_020779.4(WDR35):c.2137G>A (p.Asp713Asn)
|
rs778732776
|
0.00006
|
NM_020779.4(WDR35):c.3193T>A (p.Cys1065Ser)
|
rs200258619
|
0.00006
|
NM_020800.3(IFT80):c.1205G>A (p.Arg402His)
|
rs147955112
|
0.00006
|
NM_023036.6(DNAI2):c.-17C>A
|
rs754497256
|
0.00006
|
NM_023036.6(DNAI2):c.1000A>G (p.Met334Val)
|
rs779742315
|
0.00006
|
NM_023036.6(DNAI2):c.1552C>T (p.Arg518Trp)
|
rs377582813
|
0.00006
|
NM_023036.6(DNAI2):c.1712C>T (p.Thr571Met)
|
rs373090022
|
0.00006
|
NM_024649.5(BBS1):c.*473C>T
|
rs886048526
|
0.00006
|
NM_024649.5(BBS1):c.1394G>A (p.Arg465His)
|
rs146072788
|
0.00006
|
NM_024649.5(BBS1):c.1535G>A (p.Arg512His)
|
rs202205304
|
0.00006
|
NM_024649.5(BBS1):c.1595G>A (p.Arg532Gln)
|
rs142648652
|
0.00006
|
NM_024685.4(BBS10):c.*1325T>C
|
rs571032291
|
0.00006
|
NM_024685.4(BBS10):c.440A>G (p.Gln147Arg)
|
rs140585012
|
0.00006
|
NM_024753.5(TTC21B):c.1575T>C (p.Tyr525=)
|
rs199559023
|
0.00006
|
NM_024753.5(TTC21B):c.2259G>A (p.Pro753=)
|
rs570679271
|
0.00006
|
NM_024753.5(TTC21B):c.2693G>A (p.Arg898Gln)
|
rs574017249
|
0.00006
|
NM_024809.5(TCTN2):c.1150C>T (p.His384Tyr)
|
rs372235872
|
0.00006
|
NM_024809.5(TCTN2):c.1662C>T (p.Asn554=)
|
rs553095875
|
0.00006
|
NM_024809.5(TCTN2):c.76G>T (p.Asp26Tyr)
|
rs147746146
|
0.00006
|
NM_025114.4(CEP290):c.-41C>T
|
rs759820573
|
0.00006
|
NM_025114.4(CEP290):c.2616G>A (p.Ser872=)
|
rs776360559
|
0.00006
|
NM_025114.4(CEP290):c.4754A>G (p.His1585Arg)
|
rs199826787
|
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_025132.4(WDR19):c.1639G>A (p.Ala547Thr)
|
rs754631759
|
0.00006
|
NM_025132.4(WDR19):c.3362A>G (p.Asn1121Ser)
|
rs545916111
|
0.00006
|
NM_031885.5(BBS2):c.-147G>T
|
rs886052154
|
0.00006
|
NM_033028.5(BBS4):c.1083C>T (p.Tyr361=)
|
rs749282837
|
0.00006
|
NM_033028.5(BBS4):c.1107-7G>A
|
rs766664389
|
0.00006
|
NM_144596.4(TTC8):c.*247T>C
|
rs886050879
|
0.00006
|
NM_147127.5(EVC2):c.2248G>A (p.Glu750Lys)
|
rs144270330
|
0.00006
|
NM_147127.5(EVC2):c.2257C>T (p.Arg753Cys)
|
rs375693723
|
0.00006
|
NM_147127.5(EVC2):c.2829+9A>C
|
rs370232376
|
0.00006
|
NM_147127.5(EVC2):c.337C>T (p.Leu113Phe)
|
rs768224457
|
0.00006
|
NM_147127.5(EVC2):c.3837G>A (p.Lys1279=)
|
rs201651890
|
0.00006
|
NM_152618.3(BBS12):c.2014G>A (p.Ala672Thr)
|
rs140895713
|
0.00006
|
NM_152732.5(RSPH9):c.276G>A (p.Met92Ile)
|
rs147713380
|
0.00006
|
NM_153240.5(NPHP3):c.*784C>T
|
rs376015619
|
0.00006
|
NM_153240.5(NPHP3):c.1976C>T (p.Pro659Leu)
|
rs147836124
|
0.00006
|
NM_153240.5(NPHP3):c.233G>T (p.Gly78Val)
|
rs202142404
|
0.00006
|
NM_153240.5(NPHP3):c.332C>T (p.Ser111Phe)
|
rs200233813
|
0.00006
|
NM_153704.6(TMEM67):c.*1424C>A
|
rs1024783132
|
0.00006
|
NM_153704.6(TMEM67):c.2556+4T>G
|
rs772449181
|
0.00006
|
NM_153704.6(TMEM67):c.653G>C (p.Gly218Ala)
|
rs202036490
|
0.00006
|
NM_153717.3(EVC):c.*1150A>G
|
rs1195713966
|
0.00006
|
NM_153717.3(EVC):c.*1313C>T
|
rs548196260
|
0.00006
|
NM_153717.3(EVC):c.*1554A>C
|
rs531598994
|
0.00006
|
NM_153717.3(EVC):c.*2321C>T
|
rs928733602
|
0.00006
|
NM_153717.3(EVC):c.*2361C>T
|
rs570533057
|
0.00006
|
NM_153717.3(EVC):c.*2466G>A
|
rs572400824
|
0.00006
|
NM_153717.3(EVC):c.*3118C>G
|
rs906071299
|
0.00006
|
NM_153717.3(EVC):c.1242C>T (p.Ser414=)
|
rs769206763
|
0.00006
|
NM_170784.3(MKKS):c.*460T>C
|
rs886056496
|
0.00006
|
NM_170784.3(MKKS):c.757T>C (p.Ser253Pro)
|
rs201785599
|
0.00006
|
NM_176824.3(BBS7):c.1603C>A (p.Pro535Thr)
|
rs143700362
|
0.00006
|
NM_178452.6(DNAAF1):c.-100G>A
|
rs886052364
|
0.00006
|
NM_198525.3(KIF7):c.*87C>A
|
rs886051528
|
0.00006
|
NM_198525.3(KIF7):c.1296G>A (p.Leu432=)
|
rs886051533
|
0.00006
|
NM_198525.3(KIF7):c.2322C>A (p.Leu774=)
|
rs145339415
|
0.00006
|
NM_198525.3(KIF7):c.2585G>A (p.Arg862His)
|
rs202057334
|
0.00006
|
NM_198525.3(KIF7):c.530-7C>T
|
rs202043641
|
0.00006
|
NM_198525.3(KIF7):c.588G>T (p.Leu196=)
|
rs191721354
|
0.00006
|
NM_198525.3(KIF7):c.924-14C>T
|
rs573998309
|
0.00006
|
NM_001010892.3(RSPH4A):c.650A>C (p.Tyr217Ser)
|
rs762313827
|
0.00005
|
NM_001044385.3(TMEM237):c.*3385C>T
|
rs374762322
|
0.00005
|
NM_001128178.3(NPHP1):c.1932C>T (p.Gly644=)
|
rs200631256
|
0.00005
|
NM_001199397.3(NEK1):c.-499G>C
|
rs763112279
|
0.00005
|
NM_001199397.3(NEK1):c.1427A>G (p.Glu476Gly)
|
rs765781871
|
0.00005
|
NM_001277115.2(DNAH11):c.126G>A (p.Glu42=)
|
rs748250611
|
0.00005
|
NM_001277115.2(DNAH11):c.13262C>T (p.Pro4421Leu)
|
rs780579730
|
0.00005
|
NM_001277115.2(DNAH11):c.2050A>T (p.Ser684Cys)
|
rs367670668
|
0.00005
|
NM_001277115.2(DNAH11):c.4964A>G (p.Lys1655Arg)
|
rs371049362
|
0.00005
|
NM_001277115.2(DNAH11):c.6607T>C (p.Leu2203=)
|
rs202012891
|
0.00005
|
NM_001277115.2(DNAH11):c.7800T>C (p.Asp2600=)
|
rs774129338
|
0.00005
|
NM_001278293.3(ARL6):c.121A>G (p.Asn41Asp)
|
rs201618364
|
0.00005
|
NM_001369.3(DNAH5):c.11826A>G (p.Thr3942=)
|
rs140220517
|
0.00005
|
NM_001369.3(DNAH5):c.13072C>T (p.Arg4358Trp)
|
rs753960777
|
0.00005
|
NM_001369.3(DNAH5):c.13672A>G (p.Lys4558Glu)
|
rs752010216
|
0.00005
|
NM_001369.3(DNAH5):c.1830G>A (p.Gln610=)
|
rs549164618
|
0.00005
|
NM_001369.3(DNAH5):c.3655C>T (p.Arg1219Cys)
|
rs745321705
|
0.00005
|
NM_001369.3(DNAH5):c.4338C>G (p.Leu1446=)
|
rs377432140
|
0.00005
|
NM_001369.3(DNAH5):c.5425G>A (p.Ala1809Thr)
|
rs758513686
|
0.00005
|
NM_001369.3(DNAH5):c.6053T>C (p.Ile2018Thr)
|
rs117989731
|
0.00005
|
NM_001369.3(DNAH5):c.6659C>T (p.Pro2220Leu)
|
rs144308691
|
0.00005
|
NM_001369.3(DNAH5):c.727C>G (p.Leu243Val)
|
rs761877376
|
0.00005
|
NM_001377.3(DYNC2H1):c.12456+7C>T
|
rs372189534
|
0.00005
|
NM_001377.3(DYNC2H1):c.12817A>C (p.Thr4273Pro)
|
rs374409204
|
0.00005
|
NM_001378615.1(CC2D2A):c.258A>G (p.Pro86=)
|
rs199909714
|
0.00005
|
NM_001384732.1(CPLANE1):c.5311T>C (p.Tyr1771His)
|
rs748355456
|
0.00005
|
NM_001384732.1(CPLANE1):c.7099A>G (p.Lys2367Glu)
|
rs778278672
|
0.00005
|
NM_001384732.1(CPLANE1):c.8197C>T (p.Arg2733Trp)
|
rs142792453
|
0.00005
|
NM_001384732.1(CPLANE1):c.8674C>T (p.His2892Tyr)
|
rs201404524
|
0.00005
|
NM_001384732.1(CPLANE1):c.9386T>C (p.Val3129Ala)
|
rs1347117644
|
0.00005
|
NM_012144.4(DNAI1):c.1490G>A (p.Gly497Asp)
|
rs376252276
|
0.00005
|
NM_012144.4(DNAI1):c.1999A>G (p.Lys667Glu)
|
rs560719255
|
0.00005
|
NM_012144.4(DNAI1):c.2064G>A (p.Leu688=)
|
rs750785483
|
0.00005
|
NM_012210.4(TRIM32):c.1458C>T (p.Thr486=)
|
rs141965401
|
0.00005
|
NM_014714.4(IFT140):c.2817G>A (p.Ser939=)
|
rs373651150
|
0.00005
|
NM_014714.4(IFT140):c.3779G>A (p.Arg1260Gln)
|
rs571556177
|
0.00005
|
NM_015102.5(NPHP4):c.2798G>A (p.Arg933Gln)
|
rs768347263
|
0.00005
|
NM_015102.5(NPHP4):c.694C>T (p.Arg232Cys)
|
rs572497035
|
0.00005
|
NM_015272.5(RPGRIP1L):c.1331G>A (p.Arg444His)
|
rs76600508
|
0.00005
|
NM_015272.5(RPGRIP1L):c.2414G>A (p.Arg805Gln)
|
rs532412372
|
0.00005
|
NM_015272.5(RPGRIP1L):c.910G>A (p.Asp304Asn)
|
rs530772984
|
0.00005
|
NM_015910.7(WDPCP):c.208+11T>C
|
rs201607698
|
0.00005
|
NM_017777.4(MKS1):c.*49C>A
|
rs371962780
|
0.00005
|
NM_017777.4(MKS1):c.1506G>A (p.Ser502=)
|
rs368535131
|
0.00005
|
NM_017777.4(MKS1):c.498G>T (p.Arg166=)
|
rs778956664
|
0.00005
|
NM_017950.4(CCDC40):c.1860C>T (p.Gly620=)
|
rs571288423
|
0.00005
|
NM_017950.4(CCDC40):c.2841C>T (p.Leu947=)
|
rs573028412
|
0.00005
|
NM_017950.4(CCDC40):c.994T>C (p.Tyr332His)
|
rs371604414
|
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.786G>A (p.Pro262=)
|
rs782460743
|
0.00005
|
NM_019892.6(INPP5E):c.580C>G (p.Pro194Ala)
|
rs200223403
|
0.00005
|
NM_020779.4(WDR35):c.*1957C>T
|
rs947201612
|
0.00005
|
NM_020779.4(WDR35):c.215-4C>G
|
rs369080910
|
0.00005
|
NM_020779.4(WDR35):c.2515A>G (p.Ile839Val)
|
rs763618858
|
0.00005
|
NM_020779.4(WDR35):c.2836G>A (p.Glu946Lys)
|
rs779009587
|
0.00005
|
NM_020800.3(IFT80):c.-98G>C
|
rs375150390
|
0.00005
|
NM_020800.3(IFT80):c.1126G>C (p.Val376Leu)
|
rs753617262
|
0.00005
|
NM_020800.3(IFT80):c.2014A>G (p.Ile672Val)
|
rs767128122
|
0.00005
|
NM_020800.3(IFT80):c.2156G>A (p.Arg719His)
|
rs551983792
|
0.00005
|
NM_020800.3(IFT80):c.468C>T (p.Gly156=)
|
rs145679417
|
0.00005
|
NM_020800.3(IFT80):c.511A>G (p.Ile171Val)
|
rs140163837
|
0.00005
|
NM_023036.6(DNAI2):c.1165C>T (p.Arg389Cys)
|
rs375896715
|
0.00005
|
NM_023036.6(DNAI2):c.467+3A>G
|
rs751915388
|
0.00005
|
NM_023036.6(DNAI2):c.531G>T (p.Lys177Asn)
|
rs776667942
|
0.00005
|
NM_024649.5(BBS1):c.1036G>A (p.Val346Ile)
|
rs201872547
|
0.00005
|
NM_024685.4(BBS10):c.145C>T (p.Arg49Trp)
|
rs768933093
|
0.00005
|
NM_024685.4(BBS10):c.42G>A (p.Ala14=)
|
rs373458861
|
0.00005
|
NM_024753.5(TTC21B):c.*246G>A
|
rs759810831
|
0.00005
|
NM_024753.5(TTC21B):c.-44G>A
|
rs1047095367
|
0.00005
|
NM_024753.5(TTC21B):c.1677G>C (p.Val559=)
|
rs149842503
|
0.00005
|
NM_024753.5(TTC21B):c.2569G>A (p.Ala857Thr)
|
rs190101048
|
0.00005
|
NM_024809.5(TCTN2):c.267+3A>G
|
rs748772785
|
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.5127G>T (p.Gln1709His)
|
rs757738553
|
0.00005
|
NM_025132.4(WDR19):c.1173C>T (p.Asn391=)
|
rs777985189
|
0.00005
|
NM_031885.5(BBS2):c.837C>T (p.Val279=)
|
rs748579225
|
0.00005
|
NM_033028.5(BBS4):c.*885T>C
|
rs753912948
|
0.00005
|
NM_147127.5(EVC2):c.1930C>T (p.Arg644Trp)
|
rs760871098
|
0.00005
|
NM_147127.5(EVC2):c.446G>A (p.Arg149His)
|
rs202198132
|
0.00005
|
NM_152618.3(BBS12):c.1198G>A (p.Val400Met)
|
rs771136797
|
0.00005
|
NM_153704.6(TMEM67):c.2928T>C (p.Asn976=)
|
rs369812327
|
0.00005
|
NM_153717.3(EVC):c.*1766C>T
|
rs1012765159
|
0.00005
|
NM_153717.3(EVC):c.1019G>A (p.Arg340Gln)
|
rs775052481
|
0.00005
|
NM_153717.3(EVC):c.1865G>A (p.Arg622Gln)
|
rs767013073
|
0.00005
|
NM_153717.3(EVC):c.2961G>A (p.Lys987=)
|
rs138808610
|
0.00005
|
NM_170784.3(MKKS):c.874C>T (p.Leu292=)
|
rs758645426
|
0.00005
|
NM_178452.6(DNAAF1):c.1423C>T (p.Leu475=)
|
rs368651695
|
0.00005
|
NM_178452.6(DNAAF1):c.1528+12G>A
|
rs765784723
|
0.00005
|
NM_181426.2(CCDC39):c.*572G>T
|
rs369384019
|
0.00005
|
NM_181426.2(CCDC39):c.2626C>T (p.Arg876Cys)
|
rs745852520
|
0.00005
|
NM_198428.3(BBS9):c.-447A>C
|
rs886062278
|
0.00005
|
NM_001023570.4(IQCB1):c.1129+13A>G
|
rs371443898
|
0.00004
|
NM_001023570.4(IQCB1):c.1466G>A (p.Arg489Gln)
|
rs778777318
|
0.00004
|
NM_001023570.4(IQCB1):c.348A>G (p.Leu116=)
|
rs139299149
|
0.00004
|
NM_001023570.4(IQCB1):c.482A>G (p.Gln161Arg)
|
rs376700204
|
0.00004
|
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_001082538.3(TCTN1):c.-14G>A
|
rs762612208
|
0.00004
|
NM_001082538.3(TCTN1):c.644C>A (p.Thr215Asn)
|
rs545613207
|
0.00004
|
NM_001128178.3(NPHP1):c.*238T>C
|
rs897567205
|
0.00004
|
NM_001128178.3(NPHP1):c.1861G>C (p.Glu621Gln)
|
rs780427871
|
0.00004
|
NM_001134831.2(AHI1):c.1594G>A (p.Val532Ile)
|
rs761804458
|
0.00004
|
NM_001134831.2(AHI1):c.2492+15G>A
|
rs535243555
|
0.00004
|
NM_001173990.2(TMEM216):c.-264C>T
|
rs1365742655
|
0.00004
|
NM_001173990.3(TMEM216):c.344G>A (p.Arg115His)
|
rs752216307
|
0.00004
|
NM_001199397.3(NEK1):c.1080G>C (p.Glu360Asp)
|
rs765591688
|
0.00004
|
NM_001199397.3(NEK1):c.2587+14G>T
|
rs368032168
|
0.00004
|
NM_001199397.3(NEK1):c.3135T>C (p.Ser1045=)
|
rs370713361
|
0.00004
|
NM_001199397.3(NEK1):c.3622G>A (p.Asp1208Asn)
|
rs35503975
|
0.00004
|
NM_001199397.3(NEK1):c.3715-6G>C
|
rs771507979
|
0.00004
|
NM_001258400.2(FAM187A):c.-280C>T
|
rs542384155
|
0.00004
|
NM_001277115.2(DNAH11):c.10953C>T (p.Asp3651=)
|
rs766635238
|
0.00004
|
NM_001277115.2(DNAH11):c.12008A>T (p.Lys4003Met)
|
rs751059559
|
0.00004
|
NM_001277115.2(DNAH11):c.2156A>G (p.Asn719Ser)
|
rs551038953
|
0.00004
|
NM_001277115.2(DNAH11):c.2504A>G (p.Lys835Arg)
|
rs745305844
|
0.00004
|
NM_001277115.2(DNAH11):c.2547A>G (p.Leu849=)
|
rs535761458
|
0.00004
|
NM_001277115.2(DNAH11):c.3263T>C (p.Ile1088Thr)
|
rs755583135
|
0.00004
|
NM_001277115.2(DNAH11):c.4944+6del
|
rs531049764
|
0.00004
|
NM_001277115.2(DNAH11):c.5241A>G (p.Gln1747=)
|
rs372802443
|
0.00004
|
NM_001277115.2(DNAH11):c.5669C>G (p.Ala1890Gly)
|
rs772740368
|
0.00004
|
NM_001277115.2(DNAH11):c.5702A>C (p.Glu1901Ala)
|
rs750672801
|
0.00004
|
NM_001277115.2(DNAH11):c.6152C>T (p.Thr2051Met)
|
rs375341444
|
0.00004
|
NM_001277115.2(DNAH11):c.6683+16_6683+18del
|
rs750498878
|
0.00004
|
NM_001277115.2(DNAH11):c.8386C>G (p.Pro2796Ala)
|
rs139912794
|
0.00004
|
NM_001277115.2(DNAH11):c.9292C>T (p.Arg3098Cys)
|
rs769695221
|
0.00004
|
NM_001278293.3(ARL6):c.536-4T>C
|
rs201939836
|
0.00004
|
NM_001369.3(DNAH5):c.*305C>T
|
rs955336890
|
0.00004
|
NM_001369.3(DNAH5):c.*697A>G
|
rs972489046
|
0.00004
|
NM_001369.3(DNAH5):c.10192C>T (p.Arg3398Cys)
|
rs147882360
|
0.00004
|
NM_001369.3(DNAH5):c.10639C>T (p.Arg3547Trp)
|
rs747041428
|
0.00004
|
NM_001369.3(DNAH5):c.12217G>A (p.Val4073Met)
|
rs757109346
|
0.00004
|
NM_001369.3(DNAH5):c.13255G>C (p.Asp4419His)
|
rs373749995
|
0.00004
|
NM_001369.3(DNAH5):c.2368G>A (p.Ala790Thr)
|
rs201417702
|
0.00004
|
NM_001369.3(DNAH5):c.2984A>G (p.Asp995Gly)
|
rs749983185
|
0.00004
|
NM_001369.3(DNAH5):c.3934C>T (p.Arg1312Cys)
|
rs781667158
|
0.00004
|
NM_001369.3(DNAH5):c.4139G>A (p.Arg1380Gln)
|
rs779980906
|
0.00004
|
NM_001369.3(DNAH5):c.465G>A (p.Ala155=)
|
rs763709302
|
0.00004
|
NM_001369.3(DNAH5):c.6217A>G (p.Met2073Val)
|
rs752077073
|
0.00004
|
NM_001369.3(DNAH5):c.6989-14G>T
|
rs368353964
|
0.00004
|
NM_001369.3(DNAH5):c.7306T>C (p.Tyr2436His)
|
rs373885245
|
0.00004
|
NM_001369.3(DNAH5):c.8273A>C (p.Glu2758Ala)
|
rs527914224
|
0.00004
|
NM_001369.3(DNAH5):c.8726G>A (p.Arg2909His)
|
rs756069405
|
0.00004
|
NM_001369.3(DNAH5):c.9705C>T (p.Asn3235=)
|
rs770064361
|
0.00004
|
NM_001369.3(DNAH5):c.983G>A (p.Arg328Gln)
|
rs376626613
|
0.00004
|
NM_001377.3(DYNC2H1):c.11929A>C (p.Ile3977Leu)
|
rs757571550
|
0.00004
|
NM_001377.3(DYNC2H1):c.391G>C (p.Asp131His)
|
rs759690887
|
0.00004
|
NM_001377.3(DYNC2H1):c.4900A>G (p.Met1634Val)
|
rs753296481
|
0.00004
|
NM_001377.3(DYNC2H1):c.8102C>T (p.Ala2701Val)
|
rs765998830
|
0.00004
|
NM_001377.3(DYNC2H1):c.9217T>C (p.Ser3073Pro)
|
rs199970220
|
0.00004
|
NM_001377.3(DYNC2H1):c.9585G>C (p.Glu3195Asp)
|
rs758118161
|
0.00004
|
NM_001378615.1(CC2D2A):c.1859G>A (p.Ser620Asn)
|
rs373797532
|
0.00004
|
NM_001384732.1(CPLANE1):c.1136C>T (p.Thr379Met)
|
rs373606997
|
0.00004
|
NM_001384732.1(CPLANE1):c.1312C>T (p.Leu438Phe)
|
rs774184345
|
0.00004
|
NM_001384732.1(CPLANE1):c.4054A>G (p.Ile1352Val)
|
rs146808769
|
0.00004
|
NM_001384732.1(CPLANE1):c.6123G>A (p.Ser2041=)
|
rs369977822
|
0.00004
|
NM_001384732.1(CPLANE1):c.662T>C (p.Val221Ala)
|
rs370118778
|
0.00004
|
NM_001384732.1(CPLANE1):c.7764G>A (p.Met2588Ile)
|
rs760750533
|
0.00004
|
NM_001384732.1(CPLANE1):c.8514T>C (p.Thr2838=)
|
rs760623510
|
0.00004
|
NM_001384732.1(CPLANE1):c.9063C>T (p.Tyr3021=)
|
rs377142277
|
0.00004
|
NM_006642.5(SDCCAG8):c.1588G>A (p.Glu530Lys)
|
rs190020173
|
0.00004
|
NM_012144.4(DNAI1):c.1401+3G>A
|
rs759795923
|
0.00004
|
NM_012144.4(DNAI1):c.1913A>G (p.Asn638Ser)
|
rs201773877
|
0.00004
|
NM_012144.4(DNAI1):c.501+10A>C
|
rs765805502
|
0.00004
|
NM_012144.4(DNAI1):c.862C>T (p.Arg288Trp)
|
rs202213517
|
0.00004
|
NM_012210.4(TRIM32):c.302G>A (p.Arg101Gln)
|
rs758882829
|
0.00004
|
NM_014714.4(IFT140):c.-267G>C
|
rs574385960
|
0.00004
|
NM_014714.4(IFT140):c.1255G>A (p.Ala419Thr)
|
rs769337607
|
0.00004
|
NM_014714.4(IFT140):c.2424G>A (p.Ala808=)
|
rs375979698
|
0.00004
|
NM_014714.4(IFT140):c.2501G>A (p.Arg834Gln)
|
rs771116194
|
0.00004
|
NM_014714.4(IFT140):c.3252G>A (p.Ala1084=)
|
rs375975334
|
0.00004
|
NM_014714.4(IFT140):c.3558G>A (p.Glu1186=)
|
rs368713443
|
0.00004
|
NM_014714.4(IFT140):c.4048A>G (p.Thr1350Ala)
|
rs756448762
|
0.00004
|
NM_014714.4(IFT140):c.4182+15C>T
|
rs374874160
|
0.00004
|
NM_014714.4(IFT140):c.4350G>A (p.Leu1450=)
|
rs750381445
|
0.00004
|
NM_014714.4(IFT140):c.903-5T>G
|
rs900599017
|
0.00004
|
NM_015102.5(NPHP4):c.1764-5C>T
|
rs370899989
|
0.00004
|
NM_015102.5(NPHP4):c.1874C>T (p.Pro625Leu)
|
rs377160096
|
0.00004
|
NM_015102.5(NPHP4):c.2752C>T (p.Arg918Trp)
|
rs767779934
|
0.00004
|
NM_015102.5(NPHP4):c.3073G>C (p.Asp1025His)
|
rs760874774
|
0.00004
|
NM_015102.5(NPHP4):c.4075C>T (p.Arg1359Trp)
|
rs369162678
|
0.00004
|
NM_015272.5(RPGRIP1L):c.3395A>G (p.Gln1132Arg)
|
rs561414163
|
0.00004
|
NM_015272.5(RPGRIP1L):c.3882A>G (p.Val1294=)
|
rs759935029
|
0.00004
|
NM_015910.7(WDPCP):c.*323A>G
|
rs369149310
|
0.00004
|
NM_015910.7(WDPCP):c.*582C>G
|
rs184659805
|
0.00004
|
NM_015910.7(WDPCP):c.159G>A (p.Ala53=)
|
rs192196713
|
0.00004
|
NM_016464.5(TMEM138):c.387G>A (p.Leu129=)
|
rs553815473
|
0.00004
|
NM_017777.4(MKS1):c.*415G>A
|
rs750194631
|
0.00004
|
NM_017777.4(MKS1):c.*469C>T
|
rs386465709
|
0.00004
|
NM_017777.4(MKS1):c.*594T>G
|
rs371037402
|
0.00004
|
NM_017777.4(MKS1):c.1014G>A (p.Leu338=)
|
rs201998680
|
0.00004
|
NM_017950.4(CCDC40):c.*342G>A
|
rs886053537
|
0.00004
|
NM_017950.4(CCDC40):c.290A>G (p.Tyr97Cys)
|
rs761769193
|
0.00004
|
NM_017950.4(CCDC40):c.506C>T (p.Ser169Leu)
|
rs369066468
|
0.00004
|
NM_017950.4(CCDC40):c.614G>A (p.Arg205Gln)
|
rs572093892
|
0.00004
|
NM_017950.4(CCDC40):c.662T>C (p.Val221Ala)
|
rs760951742
|
0.00004
|
NM_017950.4(CCDC40):c.940-7G>A
|
rs727504972
|
0.00004
|
NM_018139.3(DNAAF2):c.734C>T (p.Ala245Val)
|
rs754858452
|
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_018719.5(CDCA7L):c.*804C>T
|
rs886062192
|
0.00004
|
NM_019892.6(INPP5E):c.*13G>A
|
rs199734968
|
0.00004
|
NM_019892.6(INPP5E):c.*763G>C
|
rs564573606
|
0.00004
|
NM_019892.6(INPP5E):c.-175C>T
|
rs868202242
|
0.00004
|
NM_019892.6(INPP5E):c.1192G>A (p.Val398Met)
|
rs200033750
|
0.00004
|
NM_019892.6(INPP5E):c.1388-5C>T
|
rs187956407
|
0.00004
|
NM_020779.4(WDR35):c.*1219G>A
|
rs1003005484
|
0.00004
|
NM_020779.4(WDR35):c.*2989C>T
|
rs886055392
|
0.00004
|
NM_020779.4(WDR35):c.*3269G>A
|
rs886055391
|
0.00004
|
NM_020779.4(WDR35):c.1029T>C (p.Thr343=)
|
rs536150588
|
0.00004
|
NM_020779.4(WDR35):c.1053T>C (p.Pro351=)
|
rs74385826
|
0.00004
|
NM_020779.4(WDR35):c.1697C>T (p.Thr566Met)
|
rs780159239
|
0.00004
|
NM_020779.4(WDR35):c.3136G>C (p.Asp1046His)
|
rs200760434
|
0.00004
|
NM_020779.4(WDR35):c.798C>T (p.Ser266=)
|
rs141118263
|
0.00004
|
NM_020779.4(WDR35):c.958C>A (p.Leu320Ile)
|
rs573430534
|
0.00004
|
NM_020800.2(IFT80):c.-296G>A
|
rs886058136
|
0.00004
|
NM_020800.3(IFT80):c.*319G>A
|
rs949785139
|
0.00004
|
NM_020800.3(IFT80):c.1104A>T (p.Ile368=)
|
rs369114064
|
0.00004
|
NM_020800.3(IFT80):c.209G>A (p.Gly70Asp)
|
rs752892324
|
0.00004
|
NM_023036.6(DNAI2):c.1194G>A (p.Ser398=)
|
rs556547267
|
0.00004
|
NM_023036.6(DNAI2):c.325G>A (p.Ala109Thr)
|
rs192790912
|
0.00004
|
NM_023036.6(DNAI2):c.535G>T (p.Ala179Ser)
|
rs749303157
|
0.00004
|
NM_023036.6(DNAI2):c.565C>T (p.Arg189Trp)
|
rs138885031
|
0.00004
|
NM_023036.6(DNAI2):c.933G>A (p.Lys311=)
|
rs570168701
|
0.00004
|
NM_024649.5(BBS1):c.1592C>T (p.Pro531Leu)
|
rs746206916
|
0.00004
|
NM_024649.5(BBS1):c.1744G>A (p.Val582Ile)
|
rs111358560
|
0.00004
|
NM_024649.5(BBS1):c.432+13C>T
|
rs759287238
|
0.00004
|
NM_024649.5(BBS1):c.830+12C>T
|
rs781283997
|
0.00004
|
NM_024685.4(BBS10):c.*1164A>G
|
rs922929416
|
0.00004
|
NM_024753.4(TTC21B):c.-89C>G
|
rs868157832
|
0.00004
|
NM_024753.5(TTC21B):c.*360C>A
|
rs923460925
|
0.00004
|
NM_024753.5(TTC21B):c.*419C>A
|
rs886055024
|
0.00004
|
NM_024753.5(TTC21B):c.3003A>C (p.Lys1001Asn)
|
rs377209277
|
0.00004
|
NM_024753.5(TTC21B):c.3805+13A>G
|
rs529123534
|
0.00004
|
NM_024809.5(TCTN2):c.*146C>T
|
rs1046414186
|
0.00004
|
NM_024809.5(TCTN2):c.*587C>T
|
rs548909798
|
0.00004
|
NM_024809.5(TCTN2):c.1329G>A (p.Lys443=)
|
rs543166165
|
0.00004
|
NM_024809.5(TCTN2):c.1848C>T (p.Ser616=)
|
rs201834126
|
0.00004
|
NM_025114.4(CEP290):c.-96C>T
|
rs528270888
|
0.00004
|
NM_025114.4(CEP290):c.3230A>G (p.Gln1077Arg)
|
rs200668620
|
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.5186G>A (p.Arg1729Gln)
|
rs535531689
|
0.00004
|
NM_025114.4(CEP290):c.7365A>G (p.Glu2455=)
|
rs765709669
|
0.00004
|
NM_025132.4(WDR19):c.1390C>T (p.Arg464Cys)
|
rs201148758
|
0.00004
|
NM_025132.4(WDR19):c.2577G>A (p.Ala859=)
|
rs753596825
|
0.00004
|
NM_031885.5(BBS2):c.111G>A (p.Thr37=)
|
rs191867233
|
0.00004
|
NM_031885.5(BBS2):c.1207C>T (p.Arg403Cys)
|
rs766873519
|
0.00004
|
NM_031885.5(BBS2):c.744T>C (p.His248=)
|
rs186893286
|
0.00004
|
NM_144596.4(TTC8):c.489G>A (p.Thr163=)
|
rs119103286
|
0.00004
|
NM_144596.4(TTC8):c.800T>A (p.Val267Asp)
|
rs770333148
|
0.00004
|
NM_147127.5(EVC2):c.1040C>T (p.Pro347Leu)
|
rs199708349
|
0.00004
|
NM_147127.5(EVC2):c.1122G>A (p.Gly374=)
|
rs780172151
|
0.00004
|
NM_147127.5(EVC2):c.1583A>G (p.Gln528Arg)
|
rs369076839
|
0.00004
|
NM_147127.5(EVC2):c.2644A>G (p.Thr882Ala)
|
rs190540235
|
0.00004
|
NM_147127.5(EVC2):c.2706+13T>C
|
rs200000369
|
0.00004
|
NM_147127.5(EVC2):c.3056G>A (p.Arg1019Gln)
|
rs573448772
|
0.00004
|
NM_147127.5(EVC2):c.983G>A (p.Gly328Glu)
|
rs370838180
|
0.00004
|
NM_152618.3(BBS12):c.1289A>G (p.Lys430Arg)
|
rs201158536
|
0.00004
|
NM_152618.3(BBS12):c.1995T>C (p.Val665=)
|
rs771980986
|
0.00004
|
NM_152618.3(BBS12):c.2100T>C (p.Asn700=)
|
rs145847043
|
0.00004
|
NM_152732.5(RSPH9):c.760C>T (p.Arg254Cys)
|
rs200193470
|
0.00004
|
NM_153240.5(NPHP3):c.2169G>A (p.Ala723=)
|
rs563403703
|
0.00004
|
NM_153240.5(NPHP3):c.500A>C (p.Lys167Thr)
|
rs771832737
|
0.00004
|
NM_153704.6(TMEM67):c.1446C>T (p.Asn482=)
|
rs774288177
|
0.00004
|
NM_153717.3(EVC):c.*1648T>C
|
rs371788560
|
0.00004
|
NM_153717.3(EVC):c.*254G>A
|
rs557237233
|
0.00004
|
NM_153717.3(EVC):c.*2593C>T
|
rs943646882
|
0.00004
|
NM_153717.3(EVC):c.1075G>A (p.Asp359Asn)
|
rs150923920
|
0.00004
|
NM_153717.3(EVC):c.1852G>A (p.Gly618Ser)
|
rs777024713
|
0.00004
|
NM_153717.3(EVC):c.455C>T (p.Pro152Leu)
|
rs371671127
|
0.00004
|
NM_153717.3(EVC):c.717T>A (p.Ile239=)
|
rs372312182
|
0.00004
|
NM_170784.3(MKKS):c.463C>T (p.Arg155Cys)
|
rs755050269
|
0.00004
|
NM_176824.3(BBS7):c.*605G>A
|
rs886059051
|
0.00004
|
NM_178452.6(DNAAF1):c.285A>T (p.Lys95Asn)
|
rs570928611
|
0.00004
|
NM_178452.6(DNAAF1):c.767C>T (p.Pro256Leu)
|
rs764943936
|
0.00004
|
NM_181426.2(CCDC39):c.-80T>C
|
rs886058200
|
0.00004
|
NM_181426.2(CCDC39):c.1960G>A (p.Gly654Arg)
|
rs371143749
|
0.00004
|
NM_181426.2(CCDC39):c.2291T>C (p.Ile764Thr)
|
rs372308915
|
0.00004
|
NM_181426.2(CCDC39):c.42G>A (p.Gly14=)
|
rs759103433
|
0.00004
|
NM_198428.3(BBS9):c.*337C>T
|
rs1188169231
|
0.00004
|
NM_198428.3(BBS9):c.*406A>G
|
rs748029581
|
0.00004
|
NM_198428.3(BBS9):c.-206T>G
|
rs953412791
|
0.00004
|
NM_198428.3(BBS9):c.1611A>C (p.Pro537=)
|
rs140411078
|
0.00004
|
NM_198428.3(BBS9):c.715C>T (p.Leu239=)
|
rs751112173
|
0.00004
|
NM_198428.3(BBS9):c.974A>G (p.Gln325Arg)
|
rs377207430
|
0.00004
|
NM_198525.3(KIF7):c.1290C>T (p.Pro430=)
|
rs886051534
|
0.00004
|
NM_198525.3(KIF7):c.2459G>A (p.Arg820Gln)
|
rs374638470
|
0.00004
|
NM_198525.3(KIF7):c.3123G>A (p.Thr1041=)
|
rs146808726
|
0.00004
|
NM_198525.3(KIF7):c.3486G>A (p.Gln1162=)
|
rs185689321
|
0.00004
|
NM_198525.3(KIF7):c.517C>T (p.Arg173Cys)
|
rs559797970
|
0.00004
|
NM_000549.5(TSHB):c.223A>G (p.Arg75Gly)
|
rs201857310
|
0.00003
|
NM_001010892.3(RSPH4A):c.*64A>C
|
rs143307769
|
0.00003
|
NM_001023570.4(IQCB1):c.714T>C (p.Ala238=)
|
rs886057828
|
0.00003
|
NM_001044385.3(TMEM237):c.*3697G>A
|
rs761856568
|
0.00003
|
NM_001044385.3(TMEM237):c.396-13G>A
|
rs570600190
|
0.00003
|
NM_001082538.3(TCTN1):c.211G>A (p.Val71Ile)
|
rs776696098
|
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.2660A>G (p.Lys887Arg)
|
rs200355875
|
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_001199397.3(NEK1):c.*1062A>G
|
rs1057222414
|
0.00003
|
NM_001199397.3(NEK1):c.*835A>G
|
rs886059222
|
0.00003
|
NM_001199397.3(NEK1):c.-532A>G
|
rs532947272
|
0.00003
|
NM_001199397.3(NEK1):c.1063A>G (p.Arg355Gly)
|
rs35763578
|
0.00003
|
NM_001199397.3(NEK1):c.1500T>C (p.Ala500=)
|
rs776664093
|
0.00003
|
NM_001199397.3(NEK1):c.1793A>G (p.Asn598Ser)
|
rs61735896
|
0.00003
|
NM_001199397.3(NEK1):c.2136C>T (p.Gly712=)
|
rs760404694
|
0.00003
|
NM_001199397.3(NEK1):c.2294A>G (p.Glu765Gly)
|
rs886059231
|
0.00003
|
NM_001199397.3(NEK1):c.2999A>C (p.His1000Pro)
|
rs886059228
|
0.00003
|
NM_001277115.2(DNAH11):c.10641A>G (p.Ile3547Met)
|
rs368052967
|
0.00003
|
NM_001277115.2(DNAH11):c.1133A>C (p.Tyr378Ser)
|
rs375636554
|
0.00003
|
NM_001277115.2(DNAH11):c.12336C>T (p.Asp4112=)
|
rs779489580
|
0.00003
|
NM_001277115.2(DNAH11):c.1794G>T (p.Met598Ile)
|
rs573727689
|
0.00003
|
NM_001277115.2(DNAH11):c.4891G>A (p.Val1631Ile)
|
rs766901693
|
0.00003
|
NM_001277115.2(DNAH11):c.8247A>G (p.Lys2749=)
|
rs367806628
|
0.00003
|
NM_001277115.2(DNAH11):c.8275T>C (p.Phe2759Leu)
|
rs148656615
|
0.00003
|
NM_001369.3(DNAH5):c.*891A>G
|
rs764924502
|
0.00003
|
NM_001369.3(DNAH5):c.10451A>T (p.His3484Leu)
|
rs150532311
|
0.00003
|
NM_001369.3(DNAH5):c.10640G>A (p.Arg3547Gln)
|
rs779977337
|
0.00003
|
NM_001369.3(DNAH5):c.11571-9A>G
|
rs779715252
|
0.00003
|
NM_001369.3(DNAH5):c.11583C>A (p.Ser3861Arg)
|
rs576096758
|
0.00003
|
NM_001369.3(DNAH5):c.11586G>A (p.Pro3862=)
|
rs755874851
|
0.00003
|
NM_001369.3(DNAH5):c.12234C>T (p.Gly4078=)
|
rs886059967
|
0.00003
|
NM_001369.3(DNAH5):c.13492-11G>T
|
rs749125197
|
0.00003
|
NM_001369.3(DNAH5):c.2260-12A>G
|
rs184701603
|
0.00003
|
NM_001369.3(DNAH5):c.535A>G (p.Thr179Ala)
|
rs755082450
|
0.00003
|
NM_001369.3(DNAH5):c.5472C>T (p.Ser1824=)
|
rs372046349
|
0.00003
|
NM_001369.3(DNAH5):c.6109A>G (p.Ile2037Val)
|
rs200551639
|
0.00003
|
NM_001369.3(DNAH5):c.7688T>G (p.Leu2563Arg)
|
rs187551830
|
0.00003
|
NM_001369.3(DNAH5):c.7823A>T (p.Asp2608Val)
|
rs189971831
|
0.00003
|
NM_001369.3(DNAH5):c.7987A>G (p.Ile2663Val)
|
rs113576049
|
0.00003
|
NM_001369.3(DNAH5):c.8006A>T (p.Asp2669Val)
|
rs770090882
|
0.00003
|
NM_001369.3(DNAH5):c.8085C>G (p.Thr2695=)
|
rs147427207
|
0.00003
|
NM_001369.3(DNAH5):c.8099T>C (p.Ile2700Thr)
|
rs760739660
|
0.00003
|
NM_001369.3(DNAH5):c.8836C>T (p.Arg2946Cys)
|
rs150899380
|
0.00003
|
NM_001369.3(DNAH5):c.9590G>A (p.Arg3197Gln)
|
rs573476401
|
0.00003
|
NM_001377.3(DYNC2H1):c.11649+4A>T
|
rs372714647
|
0.00003
|
NM_001377.3(DYNC2H1):c.11942G>A (p.Arg3981His)
|
rs755554260
|
0.00003
|
NM_001377.3(DYNC2H1):c.12410C>G (p.Pro4137Arg)
|
rs761765709
|
0.00003
|
NM_001377.3(DYNC2H1):c.12736C>T (p.Leu4246Phe)
|
rs1406947485
|
0.00003
|
NM_001377.3(DYNC2H1):c.2828A>G (p.His943Arg)
|
rs747923490
|
0.00003
|
NM_001377.3(DYNC2H1):c.4002G>A (p.Glu1334=)
|
rs886047562
|
0.00003
|
NM_001377.3(DYNC2H1):c.5791T>A (p.Leu1931Met)
|
rs776705698
|
0.00003
|
NM_001377.3(DYNC2H1):c.8473A>G (p.Ser2825Gly)
|
rs886047569
|
0.00003
|
NM_001377.3(DYNC2H1):c.8780C>T (p.Thr2927Met)
|
rs752196931
|
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.3883G>A (p.Gly1295Arg)
|
rs763466980
|
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_001384732.1(CPLANE1):c.1055C>T (p.Thr352Ile)
|
rs1443893630
|
0.00003
|
NM_001384732.1(CPLANE1):c.1839A>C (p.Lys613Asn)
|
rs533310477
|
0.00003
|
NM_001384732.1(CPLANE1):c.2428T>G (p.Cys810Gly)
|
rs886060581
|
0.00003
|
NM_001384732.1(CPLANE1):c.3090G>A (p.Thr1030=)
|
rs768564404
|
0.00003
|
NM_001384732.1(CPLANE1):c.7331G>A (p.Gly2444Glu)
|
rs751548147
|
0.00003
|
NM_001384732.1(CPLANE1):c.9263A>G (p.His3088Arg)
|
rs547370426
|
0.00003
|
NM_001384732.1(CPLANE1):c.9633dup (p.Val3212fs)
|
rs765432713
|
0.00003
|
NM_001394148.2(LOC128706665):c.-22+2430T>G
|
rs377246386
|
0.00003
|
NM_006642.5(SDCCAG8):c.-131T>C
|
rs886046327
|
0.00003
|
NM_006642.5(SDCCAG8):c.518T>C (p.Leu173Pro)
|
rs541533278
|
0.00003
|
NM_006642.5(SDCCAG8):c.676-4A>G
|
rs377256554
|
0.00003
|
NM_012210.4(TRIM32):c.1168C>T (p.Arg390Cys)
|
rs754554333
|
0.00003
|
NM_012210.4(TRIM32):c.1720G>T (p.Asp574Tyr)
|
rs886063379
|
0.00003
|
NM_012210.4(TRIM32):c.1840G>A (p.Glu614Lys)
|
rs780867714
|
0.00003
|
NM_012472.6(DNAAF11):c.408A>G (p.Val136=)
|
rs762081490
|
0.00003
|
NM_014714.4(IFT140):c.*23C>T
|
rs752974569
|
0.00003
|
NM_014714.4(IFT140):c.*429C>T
|
rs192256907
|
0.00003
|
NM_014714.4(IFT140):c.1306G>T (p.Val436Phe)
|
rs764912104
|
0.00003
|
NM_014714.4(IFT140):c.2650C>T (p.Arg884Trp)
|
rs554196965
|
0.00003
|
NM_014714.4(IFT140):c.2692G>A (p.Val898Met)
|
rs369457143
|
0.00003
|
NM_014714.4(IFT140):c.2781G>A (p.Ser927=)
|
rs773225207
|
0.00003
|
NM_014714.4(IFT140):c.4148T>C (p.Val1383Ala)
|
rs373499004
|
0.00003
|
NM_014714.4(IFT140):c.657G>A (p.Glu219=)
|
rs757028149
|
0.00003
|
NM_015102.5(NPHP4):c.1330C>T (p.Arg444Trp)
|
rs375090105
|
0.00003
|
NM_015102.5(NPHP4):c.1408C>T (p.Arg470Trp)
|
rs367686843
|
0.00003
|
NM_015102.5(NPHP4):c.2246T>C (p.Ile749Thr)
|
rs372250881
|
0.00003
|
NM_015102.5(NPHP4):c.2260G>A (p.Gly754Arg)
|
rs373962831
|
0.00003
|
NM_015102.5(NPHP4):c.2419C>T (p.Arg807Cys)
|
rs770004315
|
0.00003
|
NM_015102.5(NPHP4):c.3720C>T (p.Cys1240=)
|
rs377728296
|
0.00003
|
NM_015102.5(NPHP4):c.4076G>A (p.Arg1359Gln)
|
rs766202367
|
0.00003
|
NM_015272.5(RPGRIP1L):c.*119C>T
|
rs886052091
|
0.00003
|
NM_015272.5(RPGRIP1L):c.3331G>A (p.Ala1111Thr)
|
rs973841786
|
0.00003
|
NM_015272.5(RPGRIP1L):c.3362C>T (p.Pro1121Leu)
|
rs886052093
|
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_015910.7(WDPCP):c.1575C>T (p.Ser525=)
|
rs375693256
|
0.00003
|
NM_015910.7(WDPCP):c.1880G>T (p.Ser627Ile)
|
rs576368237
|
0.00003
|
NM_015910.7(WDPCP):c.76-15T>A
|
rs200557033
|
0.00003
|
NM_016464.5(TMEM138):c.*264C>G
|
rs886048409
|
0.00003
|
NM_016464.5(TMEM138):c.352A>T (p.Met118Leu)
|
rs774141923
|
0.00003
|
NM_017777.4(MKS1):c.*381A>G
|
rs886053168
|
0.00003
|
NM_017777.4(MKS1):c.1322C>T (p.Thr441Met)
|
rs367625961
|
0.00003
|
NM_017777.4(MKS1):c.1408-15A>G
|
rs762989365
|
0.00003
|
NM_017777.4(MKS1):c.1543C>T (p.Arg515Cys)
|
rs775558298
|
0.00003
|
NM_017777.4(MKS1):c.813C>T (p.His271=)
|
rs201961765
|
0.00003
|
NM_017950.4(CCDC40):c.*415G>A
|
rs886053539
|
0.00003
|
NM_017950.4(CCDC40):c.1440+15C>T
|
rs779133902
|
0.00003
|
NM_017950.4(CCDC40):c.1526G>A (p.Arg509His)
|
rs757879326
|
0.00003
|
NM_017950.4(CCDC40):c.2038G>C (p.Asp680His)
|
rs765976507
|
0.00003
|
NM_017950.4(CCDC40):c.2936G>A (p.Arg979His)
|
rs760027732
|
0.00003
|
NM_018139.3(DNAAF2):c.1120G>C (p.Gly374Arg)
|
rs886050527
|
0.00003
|
NM_018139.3(DNAAF2):c.1349G>T (p.Ser450Ile)
|
rs185938951
|
0.00003
|
NM_018139.3(DNAAF2):c.2381C>T (p.Thr794Met)
|
rs185361306
|
0.00003
|
NM_018139.3(DNAAF2):c.2388C>T (p.His796=)
|
rs140997181
|
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.757+11T>C
|
rs1050676312
|
0.00003
|
NM_018719.5(CDCA7L):c.*942C>T
|
rs192395057
|
0.00003
|
NM_019892.6(INPP5E):c.*913T>C
|
rs886063708
|
0.00003
|
NM_020779.4(WDR35):c.*1038C>G
|
rs145549829
|
0.00003
|
NM_020779.4(WDR35):c.*1218C>T
|
rs990547735
|
0.00003
|
NM_020779.4(WDR35):c.*1821A>G
|
rs978221263
|
0.00003
|
NM_020779.4(WDR35):c.1260A>G (p.Pro420=)
|
rs573958749
|
0.00003
|
NM_020779.4(WDR35):c.2984G>T (p.Gly995Val)
|
rs376284452
|
0.00003
|
NM_020779.4(WDR35):c.766G>A (p.Val256Ile)
|
rs745580829
|
0.00003
|
NM_020800.3(IFT80):c.*1121T>C
|
rs576160607
|
0.00003
|
NM_020800.3(IFT80):c.*937A>T
|
rs545408223
|
0.00003
|
NM_020800.3(IFT80):c.370+6T>C
|
rs754136912
|
0.00003
|
NM_023036.6(DNAI2):c.*138C>A
|
rs140358589
|
0.00003
|
NM_023036.6(DNAI2):c.1683G>A (p.Lys561=)
|
rs767757416
|
0.00003
|
NM_023036.6(DNAI2):c.317A>T (p.Tyr106Phe)
|
rs761389658
|
0.00003
|
NM_023036.6(DNAI2):c.864+4C>T
|
rs773061334
|
0.00003
|
NM_024649.5(BBS1):c.*1217C>A
|
rs1057306658
|
0.00003
|
NM_024649.5(BBS1):c.1338C>T (p.Thr446=)
|
rs368302072
|
0.00003
|
NM_024649.5(BBS1):c.1371C>T (p.Tyr457=)
|
rs781014949
|
0.00003
|
NM_024649.5(BBS1):c.190C>G (p.Gln64Glu)
|
rs369843749
|
0.00003
|
NM_024685.4(BBS10):c.*1140A>G
|
rs886049842
|
0.00003
|
NM_024685.4(BBS10):c.*1204T>A
|
rs886049839
|
0.00003
|
NM_024685.4(BBS10):c.*177T>G
|
rs189856910
|
0.00003
|
NM_024685.4(BBS10):c.462G>A (p.Leu154=)
|
rs764687344
|
0.00003
|
NM_024753.5(TTC21B):c.2100G>A (p.Lys700=)
|
rs368202285
|
0.00003
|
NM_024753.5(TTC21B):c.2777G>A (p.Arg926Gln)
|
rs747246700
|
0.00003
|
NM_024753.5(TTC21B):c.3873+10T>A
|
rs779470575
|
0.00003
|
NM_024753.5(TTC21B):c.38A>G (p.Tyr13Cys)
|
rs184586093
|
0.00003
|
NM_025114.4(CEP290):c.1359G>A (p.Ser453=)
|
rs779195306
|
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.6870T>C (p.Asn2290=)
|
rs572443869
|
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_025132.4(WDR19):c.*131C>T
|
rs886059404
|
0.00003
|
NM_025132.4(WDR19):c.2087G>A (p.Arg696His)
|
rs747881116
|
0.00003
|
NM_025132.4(WDR19):c.3283T>C (p.Leu1095=)
|
rs769329045
|
0.00003
|
NM_025132.4(WDR19):c.3722C>T (p.Pro1241Leu)
|
rs576113399
|
0.00003
|
NM_025132.4(WDR19):c.523-3T>C
|
rs747603843
|
0.00003
|
NM_025132.4(WDR19):c.778C>T (p.His260Tyr)
|
rs754678482
|
0.00003
|
NM_031885.3(BBS2):c.-177C>T
|
rs567188429
|
0.00003
|
NM_031885.3(BBS2):c.-178C>T
|
rs548915387
|
0.00003
|
NM_031885.5(BBS2):c.-146G>A
|
rs886052153
|
0.00003
|
NM_031885.5(BBS2):c.1284C>T (p.His428=)
|
rs757521927
|
0.00003
|
NM_031885.5(BBS2):c.1527+12G>A
|
rs376715521
|
0.00003
|
NM_031885.5(BBS2):c.58G>A (p.Ala20Thr)
|
rs886052150
|
0.00003
|
NM_033028.5(BBS4):c.*149C>A
|
rs578051922
|
0.00003
|
NM_033028.5(BBS4):c.*855_*856del
|
rs748809330
|
0.00003
|
NM_033028.5(BBS4):c.712-1G>A
|
rs377031435
|
0.00003
|
NM_147127.5(EVC2):c.221G>A (p.Ser74Asn)
|
rs1191013607
|
0.00003
|
NM_147127.5(EVC2):c.2359C>T (p.Arg787Trp)
|
rs776830520
|
0.00003
|
NM_147127.5(EVC2):c.2363C>T (p.Ala788Val)
|
rs376048508
|
0.00003
|
NM_147127.5(EVC2):c.3157G>A (p.Asp1053Asn)
|
rs746187559
|
0.00003
|
NM_147127.5(EVC2):c.3505C>T (p.His1169Tyr)
|
rs747562782
|
0.00003
|
NM_147127.5(EVC2):c.361G>C (p.Gly121Arg)
|
rs748417016
|
0.00003
|
NM_147127.5(EVC2):c.3659+2T>C
|
rs200300612
|
0.00003
|
NM_147127.5(EVC2):c.3757G>A (p.Ala1253Thr)
|
rs745540572
|
0.00003
|
NM_147127.5(EVC2):c.550C>T (p.Arg184Cys)
|
rs773218631
|
0.00003
|
NM_152618.3(BBS12):c.1092del (p.Glu365fs)
|
rs770218590
|
0.00003
|
NM_152732.5(RSPH9):c.598A>G (p.Thr200Ala)
|
rs886061478
|
0.00003
|
NM_152732.5(RSPH9):c.787G>A (p.Val263Met)
|
rs772227123
|
0.00003
|
NM_153240.5(NPHP3):c.*1213T>C
|
rs886057994
|
0.00003
|
NM_153240.5(NPHP3):c.189G>C (p.Gly63=)
|
rs750280281
|
0.00003
|
NM_153240.5(NPHP3):c.3009T>C (p.Asn1003=)
|
rs372990521
|
0.00003
|
NM_153704.6(TMEM67):c.*942G>A
|
rs886063177
|
0.00003
|
NM_153704.6(TMEM67):c.2448G>A (p.Leu816=)
|
rs886038738
|
0.00003
|
NM_153704.6(TMEM67):c.2924G>A (p.Arg975His)
|
rs191759530
|
0.00003
|
NM_153717.3(EVC):c.*104G>A
|
rs753484436
|
0.00003
|
NM_153717.3(EVC):c.*1071G>C
|
rs1397822380
|
0.00003
|
NM_153717.3(EVC):c.*1981A>G
|
rs886059516
|
0.00003
|
NM_153717.3(EVC):c.*542C>T
|
rs1168888994
|
0.00003
|
NM_153717.3(EVC):c.1722C>T (p.Arg574=)
|
rs144637923
|
0.00003
|
NM_153717.3(EVC):c.1956C>T (p.Arg652=)
|
rs535012160
|
0.00003
|
NM_153717.3(EVC):c.625G>A (p.Val209Ile)
|
rs202026284
|
0.00003
|
NM_153717.3(EVC):c.920C>G (p.Ser307Cys)
|
rs372548610
|
0.00003
|
NM_176824.3(BBS7):c.1942T>G (p.Cys648Gly)
|
rs201096775
|
0.00003
|
NM_178452.6(DNAAF1):c.1528+4A>G
|
rs544901275
|
0.00003
|
NM_178452.6(DNAAF1):c.1994G>A (p.Cys665Tyr)
|
rs769986363
|
0.00003
|
NM_181426.2(CCDC39):c.*698A>G
|
rs983645987
|
0.00003
|
NM_181426.2(CCDC39):c.821G>A (p.Gly274Glu)
|
rs752180569
|
0.00003
|
NM_198428.3(BBS9):c.1236C>T (p.Asn412=)
|
rs139235142
|
0.00003
|
NM_198428.3(BBS9):c.1553-11T>C
|
rs756802547
|
0.00003
|
NM_198428.3(BBS9):c.1606C>T (p.Leu536=)
|
rs576401162
|
0.00003
|
NM_198428.3(BBS9):c.2273C>T (p.Pro758Leu)
|
rs757754301
|
0.00003
|
NM_198428.3(BBS9):c.2488G>A (p.Asp830Asn)
|
rs368704638
|
0.00003
|
NM_198428.3(BBS9):c.2538C>T (p.Ile846=)
|
rs376692708
|
0.00003
|
NM_198525.3(KIF7):c.*147G>T
|
rs142747773
|
0.00003
|
NM_198525.3(KIF7):c.1157A>T (p.His386Leu)
|
rs886051537
|
0.00003
|
NM_198525.3(KIF7):c.2321T>C (p.Leu774Pro)
|
rs762864604
|
0.00003
|
NM_198525.3(KIF7):c.376G>A (p.Glu126Lys)
|
rs886051544
|
0.00003
|
NM_000549.5(TSHB):c.205C>T (p.Gln69Ter)
|
rs121918670
|
0.00002
|
NM_001010892.3(RSPH4A):c.1875A>G (p.Gln625=)
|
rs1248636409
|
0.00002
|
NM_001010892.3(RSPH4A):c.1969T>C (p.Tyr657His)
|
rs769766758
|
0.00002
|
NM_001023570.4(IQCB1):c.1393T>C (p.Tyr465His)
|
rs147708058
|
0.00002
|
NM_001023570.4(IQCB1):c.814C>G (p.Gln272Glu)
|
rs760296374
|
0.00002
|
NM_001082538.3(TCTN1):c.1271T>C (p.Leu424Pro)
|
rs751036661
|
0.00002
|
NM_001082538.3(TCTN1):c.1301G>A (p.Gly434Asp)
|
rs747091094
|
0.00002
|
NM_001082538.3(TCTN1):c.574T>A (p.Tyr192Asn)
|
rs370252911
|
0.00002
|
NM_001128178.3(NPHP1):c.460G>A (p.Gly154Ser)
|
rs769509705
|
0.00002
|
NM_001134831.2(AHI1):c.*1426A>T
|
rs886061101
|
0.00002
|
NM_001134831.2(AHI1):c.1458A>T (p.Gly486=)
|
rs371835751
|
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_001173990.3(TMEM216):c.*335G>A
|
rs886048414
|
0.00002
|
NM_001173990.3(TMEM216):c.57G>T (p.Pro19=)
|
rs769285695
|
0.00002
|
NM_001199397.3(NEK1):c.1663A>G (p.Met555Val)
|
rs766596184
|
0.00002
|
NM_001199397.3(NEK1):c.2306A>G (p.His769Arg)
|
rs375173827
|
0.00002
|
NM_001199397.3(NEK1):c.2765-5T>G
|
rs201755208
|
0.00002
|
NM_001199397.3(NEK1):c.3809T>G (p.Ile1270Ser)
|
rs778919560
|
0.00002
|
NM_001199397.3(NEK1):c.591T>C (p.Cys197=)
|
rs755160503
|
0.00002
|
NM_001258400.2(FAM187A):c.-218G>A
|
rs886053016
|
0.00002
|
NM_001277115.2(DNAH11):c.10158T>C (p.Leu3386=)
|
rs778649796
|
0.00002
|
NM_001277115.2(DNAH11):c.1053G>A (p.Glu351=)
|
rs201475447
|
0.00002
|
NM_001277115.2(DNAH11):c.2226A>G (p.Ile742Met)
|
rs1335609772
|
0.00002
|
NM_001277115.2(DNAH11):c.4353G>A (p.Ala1451=)
|
rs373969291
|
0.00002
|
NM_001277115.2(DNAH11):c.6717A>G (p.Ser2239=)
|
rs373930042
|
0.00002
|
NM_001277115.2(DNAH11):c.8972C>T (p.Thr2991Met)
|
rs375595192
|
0.00002
|
NM_001277115.2(DNAH11):c.9924+12A>G
|
rs760445518
|
0.00002
|
NM_001278293.3(ARL6):c.266C>G (p.Ala89Gly)
|
rs587777805
|
0.00002
|
NM_001369.3(DNAH5):c.*100G>A
|
rs527863586
|
0.00002
|
NM_001369.3(DNAH5):c.*1298T>A
|
rs917055972
|
0.00002
|
NM_001369.3(DNAH5):c.*349G>A
|
rs866931796
|
0.00002
|
NM_001369.3(DNAH5):c.1092A>G (p.Leu364=)
|
rs759149687
|
0.00002
|
NM_001369.3(DNAH5):c.11616C>G (p.Ile3872Met)
|
rs773699669
|
0.00002
|
NM_001369.3(DNAH5):c.12566C>T (p.Ala4189Val)
|
rs138788207
|
0.00002
|
NM_001369.3(DNAH5):c.12734T>C (p.Met4245Thr)
|
rs766597612
|
0.00002
|
NM_001369.3(DNAH5):c.13005C>T (p.Thr4335=)
|
rs755271975
|
0.00002
|
NM_001369.3(DNAH5):c.1382A>G (p.Gln461Arg)
|
rs886060013
|
0.00002
|
NM_001369.3(DNAH5):c.1537-10A>T
|
rs777597757
|
0.00002
|
NM_001369.3(DNAH5):c.1870G>A (p.Ala624Thr)
|
rs373727231
|
0.00002
|
NM_001369.3(DNAH5):c.2122G>T (p.Val708Leu)
|
rs779509527
|
0.00002
|
NM_001369.3(DNAH5):c.3892A>G (p.Lys1298Glu)
|
rs774680760
|
0.00002
|
NM_001369.3(DNAH5):c.5817G>A (p.Ala1939=)
|
rs556936569
|
0.00002
|
NM_001369.3(DNAH5):c.6167A>T (p.Lys2056Ile)
|
rs578128759
|
0.00002
|
NM_001369.3(DNAH5):c.6791G>A (p.Ser2264Asn)
|
rs78484669
|
0.00002
|
NM_001369.3(DNAH5):c.6856C>T (p.His2286Tyr)
|
rs201114289
|
0.00002
|
NM_001369.3(DNAH5):c.7098G>C (p.Arg2366=)
|
rs768567429
|
0.00002
|
NM_001369.3(DNAH5):c.8725C>T (p.Arg2909Cys)
|
rs369744828
|
0.00002
|
NM_001369.3(DNAH5):c.967C>T (p.Leu323=)
|
rs746109550
|
0.00002
|
NM_001369.3(DNAH5):c.9975C>T (p.Cys3325=)
|
rs771715883
|
0.00002
|
NM_001377.3(DYNC2H1):c.11139A>G (p.Leu3713=)
|
rs778092263
|
0.00002
|
NM_001377.3(DYNC2H1):c.11578C>A (p.Arg3860=)
|
rs777253444
|
0.00002
|
NM_001377.3(DYNC2H1):c.11679A>C (p.Leu3893Phe)
|
rs748607783
|
0.00002
|
NM_001377.3(DYNC2H1):c.11742A>G (p.Gln3914=)
|
rs769560873
|
0.00002
|
NM_001377.3(DYNC2H1):c.12703A>T (p.Asn4235Tyr)
|
rs886047580
|
0.00002
|
NM_001377.3(DYNC2H1):c.2312A>C (p.Asn771Thr)
|
rs780723018
|
0.00002
|
NM_001377.3(DYNC2H1):c.2345+9T>C
|
rs772122634
|
0.00002
|
NM_001377.3(DYNC2H1):c.2385C>G (p.Ile795Met)
|
rs780228819
|
0.00002
|
NM_001377.3(DYNC2H1):c.4127+10A>G
|
rs369188420
|
0.00002
|
NM_001377.3(DYNC2H1):c.4561A>G (p.Thr1521Ala)
|
rs756098102
|
0.00002
|
NM_001377.3(DYNC2H1):c.4597C>A (p.Leu1533Met)
|
rs184788922
|
0.00002
|
NM_001377.3(DYNC2H1):c.4918T>C (p.Cys1640Arg)
|
rs768540376
|
0.00002
|
NM_001377.3(DYNC2H1):c.5212G>A (p.Gly1738Ser)
|
rs370669724
|
0.00002
|
NM_001377.3(DYNC2H1):c.7140+8A>G
|
rs768364364
|
0.00002
|
NM_001378454.1(ALMS1):c.*111A>G
|
rs200498913
|
0.00002
|
NM_001378615.1(CC2D2A):c.1730C>T (p.Ser577Leu)
|
rs543650388
|
0.00002
|
NM_001378615.1(CC2D2A):c.2639G>A (p.Gly880Asp)
|
rs541135799
|
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.380G>A (p.Arg127Gln)
|
rs748886997
|
0.00002
|
NM_001378615.1(CC2D2A):c.4022C>G (p.Thr1341Ser)
|
rs745599580
|
0.00002
|
NM_001384732.1(CPLANE1):c.3450C>T (p.Phe1150=)
|
rs200449169
|
0.00002
|
NM_001384732.1(CPLANE1):c.3595C>T (p.Arg1199Trp)
|
rs374075447
|
0.00002
|
NM_001384732.1(CPLANE1):c.4248G>A (p.Val1416=)
|
rs758567108
|
0.00002
|
NM_001384732.1(CPLANE1):c.8791A>G (p.Arg2931Gly)
|
rs953624404
|
0.00002
|
NM_001384732.1(CPLANE1):c.9574C>G (p.Leu3192Val)
|
rs886060572
|
0.00002
|
NM_006642.5(SDCCAG8):c.741-7T>C
|
rs755931555
|
0.00002
|
NM_012144.4(DNAI1):c.355C>T (p.Arg119Trp)
|
rs370391949
|
0.00002
|
NM_012210.4(TRIM32):c.*530C>T
|
rs192837427
|
0.00002
|
NM_012210.4(TRIM32):c.*935A>G
|
rs886063384
|
0.00002
|
NM_012210.4(TRIM32):c.370C>T (p.Arg124Trp)
|
rs572052810
|
0.00002
|
NM_012210.4(TRIM32):c.978C>T (p.Asp326=)
|
rs759707001
|
0.00002
|
NM_014714.3(IFT140):c.-328C>T
|
rs528212874
|
0.00002
|
NM_014714.4(IFT140):c.1155+15G>A
|
rs764275810
|
0.00002
|
NM_014714.4(IFT140):c.1309G>A (p.Ala437Thr)
|
rs373106880
|
0.00002
|
NM_014714.4(IFT140):c.1944C>T (p.Pro648=)
|
rs763449097
|
0.00002
|
NM_014714.4(IFT140):c.2224G>A (p.Glu742Lys)
|
rs1420709766
|
0.00002
|
NM_014714.4(IFT140):c.2488G>A (p.Ala830Thr)
|
rs1438111084
|
0.00002
|
NM_014714.4(IFT140):c.3390C>T (p.Ser1130=)
|
rs765923171
|
0.00002
|
NM_014714.4(IFT140):c.3602G>A (p.Arg1201His)
|
rs147292597
|
0.00002
|
NM_014714.4(IFT140):c.3650A>G (p.Asn1217Ser)
|
rs368380437
|
0.00002
|
NM_015102.5(NPHP4):c.1929G>A (p.Met643Ile)
|
rs779995407
|
0.00002
|
NM_015102.5(NPHP4):c.2347G>A (p.Glu783Lys)
|
rs1349132502
|
0.00002
|
NM_015102.5(NPHP4):c.3723C>T (p.Val1241=)
|
rs375485412
|
0.00002
|
NM_015102.5(NPHP4):c.6C>T (p.Asn2=)
|
rs371472576
|
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.2658G>A (p.Ser886=)
|
rs775153934
|
0.00002
|
NM_015681.6(B9D1):c.-42C>T
|
rs750522077
|
0.00002
|
NM_015910.7(WDPCP):c.*104A>C
|
rs886056222
|
0.00002
|
NM_015910.7(WDPCP):c.*559G>A
|
rs1374866370
|
0.00002
|
NM_015910.7(WDPCP):c.499+9C>T
|
rs746261282
|
0.00002
|
NM_016464.5(TMEM138):c.*548G>A
|
rs1565080891
|
0.00002
|
NM_017777.4(MKS1):c.1273+12T>A
|
rs762439479
|
0.00002
|
NM_017777.4(MKS1):c.493C>T (p.Arg165Cys)
|
rs779953982
|
0.00002
|
NM_017777.4(MKS1):c.538C>T (p.Arg180Cys)
|
rs559966703
|
0.00002
|
NM_017950.4(CCDC40):c.*663C>T
|
rs886053540
|
0.00002
|
NM_017950.4(CCDC40):c.2612C>T (p.Ser871Leu)
|
rs367596393
|
0.00002
|
NM_017950.4(CCDC40):c.2967C>T (p.Thr989=)
|
rs199575834
|
0.00002
|
NM_017950.4(CCDC40):c.3212G>A (p.Arg1071His)
|
rs142135083
|
0.00002
|
NM_018139.3(DNAAF2):c.-4C>G
|
rs528847072
|
0.00002
|
NM_018139.3(DNAAF2):c.1624C>T (p.Arg542Trp)
|
rs201615253
|
0.00002
|
NM_018139.3(DNAAF2):c.561C>T (p.Thr187=)
|
rs529083217
|
0.00002
|
NM_018139.3(DNAAF2):c.779G>T (p.Arg260Leu)
|
rs763643131
|
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.289G>A (p.Ala97Thr)
|
rs200516165
|
0.00002
|
NM_019892.6(INPP5E):c.*213C>T
|
rs544203657
|
0.00002
|
NM_019892.6(INPP5E):c.1393G>A (p.Val465Ile)
|
rs750331066
|
0.00002
|
NM_019892.6(INPP5E):c.1407C>T (p.Phe469=)
|
rs377483407
|
0.00002
|
NM_020779.4(WDR35):c.*297A>G
|
rs886891593
|
0.00002
|
NM_020779.4(WDR35):c.*305T>C
|
rs1404107870
|
0.00002
|
NM_020779.4(WDR35):c.2107A>G (p.Thr703Ala)
|
rs886055405
|
0.00002
|
NM_020800.3(IFT80):c.*1110A>G
|
rs981397224
|
0.00002
|
NM_020800.3(IFT80):c.*397A>G
|
rs1354614636
|
0.00002
|
NM_020800.3(IFT80):c.1069G>A (p.Val357Met)
|
rs530805244
|
0.00002
|
NM_020800.3(IFT80):c.371T>C (p.Val124Ala)
|
rs775678547
|
0.00002
|
NM_023036.6(DNAI2):c.*19G>A
|
rs757199467
|
0.00002
|
NM_023036.6(DNAI2):c.566G>A (p.Arg189Gln)
|
rs552610697
|
0.00002
|
NM_024649.5(BBS1):c.*259C>A
|
rs1040142241
|
0.00002
|
NM_024649.5(BBS1):c.*950C>T
|
rs1344507018
|
0.00002
|
NM_024649.5(BBS1):c.243G>A (p.Pro81=)
|
rs141429900
|
0.00002
|
NM_024649.5(BBS1):c.877G>A (p.Val293Met)
|
rs769422545
|
0.00002
|
NM_024685.4(BBS10):c.1164C>T (p.Ser388=)
|
rs1484593364
|
0.00002
|
NM_024685.4(BBS10):c.198-10T>C
|
rs376497190
|
0.00002
|
NM_024685.4(BBS10):c.559C>A (p.His187Asn)
|
rs753964273
|
0.00002
|
NM_024753.5(TTC21B):c.*1107A>G
|
rs1200937712
|
0.00002
|
NM_024753.5(TTC21B):c.*593G>A
|
rs886055022
|
0.00002
|
NM_024753.5(TTC21B):c.*680C>T
|
rs746664114
|
0.00002
|
NM_024753.5(TTC21B):c.*730A>C
|
rs886055021
|
0.00002
|
NM_024753.5(TTC21B):c.2903A>G (p.Tyr968Cys)
|
rs574803644
|
0.00002
|
NM_024809.5(TCTN2):c.1818C>G (p.His606Gln)
|
rs778418417
|
0.00002
|
NM_024809.5(TCTN2):c.289A>G (p.Arg97Gly)
|
rs1226080375
|
0.00002
|
NM_024809.5(TCTN2):c.523T>G (p.Leu175Val)
|
rs768824874
|
0.00002
|
NM_025114.4(CEP290):c.1549T>C (p.Leu517=)
|
rs752942122
|
0.00002
|
NM_025114.4(CEP290):c.4293G>A (p.Ala1431=)
|
rs377614744
|
0.00002
|
NM_025114.4(CEP290):c.5285G>A (p.Arg1762His)
|
rs761763799
|
0.00002
|
NM_025114.4(CEP290):c.5814T>C (p.Thr1938=)
|
rs752046733
|
0.00002
|
NM_025132.4(WDR19):c.*296T>G
|
rs542204770
|
0.00002
|
NM_025132.4(WDR19):c.128G>A (p.Arg43His)
|
rs770312522
|
0.00002
|
NM_025132.4(WDR19):c.13+14C>T
|
rs758352852
|
0.00002
|
NM_025132.4(WDR19):c.3042C>T (p.Ala1014=)
|
rs761990492
|
0.00002
|
NM_025132.4(WDR19):c.3483+11T>C
|
rs766475725
|
0.00002
|
NM_025132.4(WDR19):c.822T>C (p.His274=)
|
rs750215526
|
0.00002
|
NM_031427.4(DNAL1):c.22_24del (p.Lys8del)
|
rs779309893
|
0.00002
|
NM_031885.5(BBS2):c.1894C>T (p.Arg632Cys)
|
rs200021475
|
0.00002
|
NM_031885.5(BBS2):c.1910+9T>G
|
rs751604858
|
0.00002
|
NM_031885.5(BBS2):c.1934T>C (p.Met645Thr)
|
rs757737589
|
0.00002
|
NM_031885.5(BBS2):c.2088T>C (p.Thr696=)
|
rs886052144
|
0.00002
|
NM_031885.5(BBS2):c.86C>T (p.Pro29Leu)
|
rs771211831
|
0.00002
|
NM_033028.4(BBS4):c.-44G>C
|
rs886051465
|
0.00002
|
NM_033028.5(BBS4):c.1556A>G (p.Lys519Arg)
|
rs758120829
|
0.00002
|
NM_033028.5(BBS4):c.275C>T (p.Thr92Ile)
|
rs761814377
|
0.00002
|
NM_144596.4(TTC8):c.1042T>C (p.Phe348Leu)
|
rs200086953
|
0.00002
|
NM_144596.4(TTC8):c.1382C>T (p.Ala461Val)
|
rs139195149
|
0.00002
|
NM_144596.4(TTC8):c.5G>A (p.Ser2Asn)
|
rs199571677
|
0.00002
|
NM_144596.4(TTC8):c.799-11C>T
|
rs768485587
|
0.00002
|
NM_147127.5(EVC2):c.1083C>T (p.Asn361=)
|
rs142231129
|
0.00002
|
NM_147127.5(EVC2):c.1371A>C (p.Glu457Asp)
|
rs368371226
|
0.00002
|
NM_147127.5(EVC2):c.2667C>T (p.Phe889=)
|
rs201173415
|
0.00002
|
NM_147127.5(EVC2):c.2707-9C>G
|
rs772234395
|
0.00002
|
NM_147127.5(EVC2):c.2732G>A (p.Arg911Gln)
|
rs767317898
|
0.00002
|
NM_147127.5(EVC2):c.3055C>T (p.Arg1019Trp)
|
rs139610006
|
0.00002
|
NM_152618.3(BBS12):c.775A>G (p.Thr259Ala)
|
rs746565072
|
0.00002
|
NM_152732.5(RSPH9):c.*13C>A
|
rs369595180
|
0.00002
|
NM_152732.5(RSPH9):c.798C>T (p.Gly266=)
|
rs770913202
|
0.00002
|
NM_153240.5(NPHP3):c.2752A>G (p.Met918Val)
|
rs140594430
|
0.00002
|
NM_153240.5(NPHP3):c.2985C>T (p.Tyr995=)
|
rs777768843
|
0.00002
|
NM_153240.5(NPHP3):c.384C>G (p.Ala128=)
|
rs201425936
|
0.00002
|
NM_153704.6(TMEM67):c.*822G>A
|
rs1295335321
|
0.00002
|
NM_153704.6(TMEM67):c.1781A>G (p.Lys594Arg)
|
rs142280651
|
0.00002
|
NM_153704.6(TMEM67):c.2291G>A (p.Arg764Gln)
|
rs754934520
|
0.00002
|
NM_153704.6(TMEM67):c.539C>T (p.Thr180Ile)
|
rs781361559
|
0.00002
|
NM_153717.3(EVC):c.*2465C>T
|
rs555611922
|
0.00002
|
NM_153717.3(EVC):c.*869A>G
|
rs79612644
|
0.00002
|
NM_153717.3(EVC):c.1074C>T (p.Cys358=)
|
rs921573510
|
0.00002
|
NM_153717.3(EVC):c.1313G>A (p.Arg438Gln)
|
rs373718642
|
0.00002
|
NM_153717.3(EVC):c.409C>A (p.Pro137Thr)
|
rs752906200
|
0.00002
|
NM_170784.3(MKKS):c.1282G>A (p.Asp428Asn)
|
rs779416496
|
0.00002
|
NM_176824.3(BBS7):c.-19G>C
|
rs757523715
|
0.00002
|
NM_176824.3(BBS7):c.1234G>T (p.Asp412Tyr)
|
rs758567781
|
0.00002
|
NM_178452.6(DNAAF1):c.100G>A (p.Ala34Thr)
|
rs1410955894
|
0.00002
|
NM_181426.2(CCDC39):c.*313C>T
|
rs776950305
|
0.00002
|
NM_181426.2(CCDC39):c.*478G>A
|
rs886058194
|
0.00002
|
NM_181426.2(CCDC39):c.1528-3C>T
|
rs1319606277
|
0.00002
|
NM_198428.3(BBS9):c.1897G>A (p.Ala633Thr)
|
rs778505224
|
0.00002
|
NM_198525.3(KIF7):c.2231G>A (p.Arg744His)
|
rs758730416
|
0.00002
|
NM_198525.3(KIF7):c.3835C>T (p.Arg1279Cys)
|
rs749221779
|
0.00002
|
NM_001009894.3(RLIG1):c.*611A>G
|
rs2033206514
|
0.00001
|
NM_001010892.3(RSPH4A):c.*8A>G
|
rs575857124
|
0.00001
|
NM_001010892.3(RSPH4A):c.1111G>A (p.Val371Met)
|
rs1379993014
|
0.00001
|
NM_001010892.3(RSPH4A):c.1478C>A (p.Ala493Glu)
|
rs753449428
|
0.00001
|
NM_001010892.3(RSPH4A):c.1559G>A (p.Arg520Gln)
|
rs148954304
|
0.00001
|
NM_001010892.3(RSPH4A):c.1764G>A (p.Gly588=)
|
rs376516018
|
0.00001
|
NM_001010892.3(RSPH4A):c.430C>T (p.Gln144Ter)
|
rs756868889
|
0.00001
|
NM_001010892.3(RSPH4A):c.711G>A (p.Leu237=)
|
rs752300778
|
0.00001
|
NM_001023570.4(IQCB1):c.*160C>T
|
rs1490063473
|
0.00001
|
NM_001023570.4(IQCB1):c.*327T>C
|
rs777172993
|
0.00001
|
NM_001023570.4(IQCB1):c.*399A>G
|
rs1466189762
|
0.00001
|
NM_001023570.4(IQCB1):c.-179G>A
|
rs1449304531
|
0.00001
|
NM_001023570.4(IQCB1):c.1150C>T (p.Arg384Trp)
|
rs760548277
|
0.00001
|
NM_001023570.4(IQCB1):c.1344A>G (p.Gln448=)
|
rs886057824
|
0.00001
|
NM_001023570.4(IQCB1):c.1656C>G (p.Ala552=)
|
rs1399676175
|
0.00001
|
NM_001023570.4(IQCB1):c.823A>G (p.Arg275Gly)
|
rs886057826
|
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.132A>C (p.Thr44=)
|
rs747915597
|
0.00001
|
NM_001044385.3(TMEM237):c.668G>A (p.Arg223Gln)
|
rs770053080
|
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.875A>T (p.Asp292Val)
|
rs773512396
|
0.00001
|
NM_001080522.2(CC2D2A):c.*144A>C
|
rs920755267
|
0.00001
|
NM_001082538.2(TCTN1):c.-84T>C
|
rs886048957
|
0.00001
|
NM_001082538.3(TCTN1):c.343G>A (p.Gly115Ser)
|
rs776322884
|
0.00001
|
NM_001082538.3(TCTN1):c.344G>A (p.Gly115Asp)
|
rs2065841782
|
0.00001
|
NM_001082538.3(TCTN1):c.543A>T (p.Thr181=)
|
rs780200746
|
0.00001
|
NM_001082538.3(TCTN1):c.956T>G (p.Leu319Arg)
|
rs762127242
|
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.1693C>A (p.Pro565Thr)
|
rs147090619
|
0.00001
|
NM_001128178.3(NPHP1):c.1716+15T>C
|
rs368590150
|
0.00001
|
NM_001128178.3(NPHP1):c.240G>A (p.Gln80=)
|
rs767719020
|
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_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.1235A>G (p.Gln412Arg)
|
rs1264460804
|
0.00001
|
NM_001134831.2(AHI1):c.1911T>G (p.Ile637Met)
|
rs780336496
|
0.00001
|
NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter)
|
rs587783013
|
0.00001
|
NM_001134831.2(AHI1):c.2578G>T (p.Ala860Ser)
|
rs1380121460
|
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.2814A>G (p.Pro938=)
|
rs775305093
|
0.00001
|
NM_001134831.2(AHI1):c.282G>A (p.Thr94=)
|
rs760858792
|
0.00001
|
NM_001134831.2(AHI1):c.2962-13G>A
|
rs927158679
|
0.00001
|
NM_001134831.2(AHI1):c.3291G>A (p.Gln1097=)
|
rs756637497
|
0.00001
|
NM_001134831.2(AHI1):c.612T>G (p.Ile204Met)
|
rs781286716
|
0.00001
|
NM_001173990.2(TMEM216):c.-242C>T
|
rs756981776
|
0.00001
|
NM_001173990.3(TMEM216):c.*377T>C
|
rs1260385076
|
0.00001
|
NM_001199397.3(NEK1):c.*1155A>G
|
rs1211514050
|
0.00001
|
NM_001199397.3(NEK1):c.*537T>G
|
rs1194523176
|
0.00001
|
NM_001199397.3(NEK1):c.*806G>A
|
rs886059223
|
0.00001
|
NM_001199397.3(NEK1):c.-441C>T
|
rs886059236
|
0.00001
|
NM_001199397.3(NEK1):c.1477G>C (p.Gly493Arg)
|
rs997165654
|
0.00001
|
NM_001199397.3(NEK1):c.1625G>A (p.Arg542Gln)
|
rs1032792680
|
0.00001
|
NM_001199397.3(NEK1):c.1936G>A (p.Val646Ile)
|
rs202231017
|
0.00001
|
NM_001199397.3(NEK1):c.2093T>C (p.Met698Thr)
|
rs577165880
|
0.00001
|
NM_001199397.3(NEK1):c.2408T>C (p.Leu803Pro)
|
rs1162454954
|
0.00001
|
NM_001199397.3(NEK1):c.2726C>G (p.Ser909Cys)
|
rs543224510
|
0.00001
|
NM_001199397.3(NEK1):c.3075C>T (p.Asn1025=)
|
rs886059227
|
0.00001
|
NM_001199397.3(NEK1):c.3148C>T (p.Pro1050Ser)
|
rs749326267
|
0.00001
|
NM_001199397.3(NEK1):c.3222+7A>G
|
rs756853265
|
0.00001
|
NM_001199397.3(NEK1):c.3405A>G (p.Gln1135=)
|
rs774338352
|
0.00001
|
NM_001199397.3(NEK1):c.551+12G>T
|
rs1237824437
|
0.00001
|
NM_001199397.3(NEK1):c.896C>T (p.Ser299Leu)
|
rs201587614
|
0.00001
|
NM_001243156.2(TAF1C):c.*1084A>G
|
rs886052373
|
0.00001
|
NM_001258400.2(FAM187A):c.-229C>A
|
rs940631847
|
0.00001
|
NM_001277115.2(DNAH11):c.1035C>T (p.His345=)
|
rs139391790
|
0.00001
|
NM_001277115.2(DNAH11):c.10691+2T>C
|
rs886039341
|
0.00001
|
NM_001277115.2(DNAH11):c.11546G>T (p.Gly3849Val)
|
rs145735492
|
0.00001
|
NM_001277115.2(DNAH11):c.11793C>T (p.Phe3931=)
|
rs774332996
|
0.00001
|
NM_001277115.2(DNAH11):c.13035T>C (p.Tyr4345=)
|
rs545264816
|
0.00001
|
NM_001277115.2(DNAH11):c.13091G>A (p.Trp4364Ter)
|
rs1562611868
|
0.00001
|
NM_001277115.2(DNAH11):c.1929A>G (p.Gln643=)
|
rs374406494
|
0.00001
|
NM_001277115.2(DNAH11):c.1995C>T (p.His665=)
|
rs752831166
|
0.00001
|
NM_001277115.2(DNAH11):c.2196A>G (p.Lys732=)
|
rs757207387
|
0.00001
|
NM_001277115.2(DNAH11):c.2874A>C (p.Lys958Asn)
|
rs180920616
|
0.00001
|
NM_001277115.2(DNAH11):c.3220G>A (p.Glu1074Lys)
|
rs765778415
|
0.00001
|
NM_001277115.2(DNAH11):c.346C>G (p.Gln116Glu)
|
rs374802008
|
0.00001
|
NM_001277115.2(DNAH11):c.3497A>C (p.His1166Pro)
|
rs575476197
|
0.00001
|
NM_001277115.2(DNAH11):c.4315A>G (p.Arg1439Gly)
|
rs1035326227
|
0.00001
|
NM_001277115.2(DNAH11):c.4491G>A (p.Glu1497=)
|
rs564202359
|
0.00001
|
NM_001277115.2(DNAH11):c.4713T>C (p.Asp1571=)
|
rs72657324
|
0.00001
|
NM_001277115.2(DNAH11):c.4790A>G (p.Tyr1597Cys)
|
rs886062176
|
0.00001
|
NM_001277115.2(DNAH11):c.5047G>T (p.Glu1683Ter)
|
rs767308949
|
0.00001
|
NM_001277115.2(DNAH11):c.6383G>A (p.Arg2128Gln)
|
rs544234928
|
0.00001
|
NM_001277115.2(DNAH11):c.6513T>C (p.Phe2171=)
|
rs377635623
|
0.00001
|
NM_001277115.2(DNAH11):c.6842C>A (p.Thr2281Asn)
|
rs886062179
|
0.00001
|
NM_001277115.2(DNAH11):c.684A>G (p.Ser228=)
|
rs886062171
|
0.00001
|
NM_001277115.2(DNAH11):c.6859C>T (p.Arg2287Cys)
|
rs771419966
|
0.00001
|
NM_001277115.2(DNAH11):c.6867A>G (p.Ala2289=)
|
rs745494770
|
0.00001
|
NM_001277115.2(DNAH11):c.6923C>T (p.Pro2308Leu)
|
rs376475480
|
0.00001
|
NM_001277115.2(DNAH11):c.8223A>G (p.Glu2741=)
|
rs371453443
|
0.00001
|
NM_001277115.2(DNAH11):c.8515C>T (p.Arg2839Cys)
|
rs770483579
|
0.00001
|
NM_001277115.2(DNAH11):c.8534G>A (p.Arg2845Gln)
|
rs372633683
|
0.00001
|
NM_001277115.2(DNAH11):c.891A>G (p.Ala297=)
|
rs201934527
|
0.00001
|
NM_001277115.2(DNAH11):c.982+12G>A
|
rs546259810
|
0.00001
|
NM_001278293.3(ARL6):c.*309T>C
|
rs2038100273
|
0.00001
|
NM_001278293.3(ARL6):c.-146T>C
|
rs886058937
|
0.00001
|
NM_001278293.3(ARL6):c.306G>A (p.Met102Ile)
|
rs763779778
|
0.00001
|
NM_001369.3(DNAH5):c.*883T>C
|
rs1427522956
|
0.00001
|
NM_001369.3(DNAH5):c.10021C>G (p.Leu3341Val)
|
rs751746139
|
0.00001
|
NM_001369.3(DNAH5):c.10738G>A (p.Gly3580Ser)
|
rs886059972
|
0.00001
|
NM_001369.3(DNAH5):c.11349C>T (p.Val3783=)
|
rs774415631
|
0.00001
|
NM_001369.3(DNAH5):c.11463G>A (p.Thr3821=)
|
rs200744540
|
0.00001
|
NM_001369.3(DNAH5):c.11529G>A (p.Ser3843=)
|
rs1024441903
|
0.00001
|
NM_001369.3(DNAH5):c.11653C>T (p.Arg3885Ter)
|
rs756032160
|
0.00001
|
NM_001369.3(DNAH5):c.11694G>T (p.Leu3898Phe)
|
rs200798994
|
0.00001
|
NM_001369.3(DNAH5):c.12125G>A (p.Arg4042Gln)
|
rs746715378
|
0.00001
|
NM_001369.3(DNAH5):c.12396C>T (p.Thr4132=)
|
rs776715085
|
0.00001
|
NM_001369.3(DNAH5):c.12502G>A (p.Val4168Ile)
|
rs747409181
|
0.00001
|
NM_001369.3(DNAH5):c.12574C>A (p.His4192Asn)
|
rs748199626
|
0.00001
|
NM_001369.3(DNAH5):c.12596G>A (p.Arg4199His)
|
rs375694023
|
0.00001
|
NM_001369.3(DNAH5):c.12631G>A (p.Glu4211Lys)
|
rs762673561
|
0.00001
|
NM_001369.3(DNAH5):c.12842T>C (p.Phe4281Ser)
|
rs886059964
|
0.00001
|
NM_001369.3(DNAH5):c.12880A>G (p.Thr4294Ala)
|
rs765649176
|
0.00001
|
NM_001369.3(DNAH5):c.12937G>C (p.Val4313Leu)
|
rs769666008
|
0.00001
|
NM_001369.3(DNAH5):c.1305G>A (p.Ala435=)
|
rs766746657
|
0.00001
|
NM_001369.3(DNAH5):c.1420G>A (p.Glu474Lys)
|
rs886060012
|
0.00001
|
NM_001369.3(DNAH5):c.1728A>C (p.Glu576Asp)
|
rs769083484
|
0.00001
|
NM_001369.3(DNAH5):c.1730G>C (p.Arg577Thr)
|
rs397515541
|
0.00001
|
NM_001369.3(DNAH5):c.1837G>A (p.Asp613Asn)
|
rs141072655
|
0.00001
|
NM_001369.3(DNAH5):c.2481C>T (p.Arg827=)
|
rs777353326
|
0.00001
|
NM_001369.3(DNAH5):c.2483T>C (p.Ile828Thr)
|
rs769408333
|
0.00001
|
NM_001369.3(DNAH5):c.2951G>A (p.Arg984His)
|
rs780758815
|
0.00001
|
NM_001369.3(DNAH5):c.2983+5T>C
|
rs1353417066
|
0.00001
|
NM_001369.3(DNAH5):c.3084A>G (p.Glu1028=)
|
rs766451124
|
0.00001
|
NM_001369.3(DNAH5):c.362T>C (p.Val121Ala)
|
rs752992572
|
0.00001
|
NM_001369.3(DNAH5):c.3643G>C (p.Val1215Leu)
|
rs763448297
|
0.00001
|
NM_001369.3(DNAH5):c.3769A>G (p.Met1257Val)
|
rs886060007
|
0.00001
|
NM_001369.3(DNAH5):c.3821T>C (p.Val1274Ala)
|
rs761168416
|
0.00001
|
NM_001369.3(DNAH5):c.4054-4T>C
|
rs200608915
|
0.00001
|
NM_001369.3(DNAH5):c.40G>A (p.Val14Ile)
|
rs1015850611
|
0.00001
|
NM_001369.3(DNAH5):c.4116+15T>C
|
rs201947846
|
0.00001
|
NM_001369.3(DNAH5):c.4703G>A (p.Arg1568His)
|
rs200994058
|
0.00001
|
NM_001369.3(DNAH5):c.4855A>G (p.Thr1619Ala)
|
rs80164898
|
0.00001
|
NM_001369.3(DNAH5):c.57+14G>T
|
rs756464306
|
0.00001
|
NM_001369.3(DNAH5):c.7037T>C (p.Ile2346Thr)
|
rs757623380
|
0.00001
|
NM_001369.3(DNAH5):c.7258G>A (p.Glu2420Lys)
|
rs1404921254
|
0.00001
|
NM_001369.3(DNAH5):c.7408-14T>C
|
rs1454703878
|
0.00001
|
NM_001369.3(DNAH5):c.8005G>T (p.Asp2669Tyr)
|
rs773280167
|
0.00001
|
NM_001369.3(DNAH5):c.8016G>A (p.Thr2672=)
|
rs112594597
|
0.00001
|
NM_001369.3(DNAH5):c.8396G>A (p.Arg2799Gln)
|
rs1182948401
|
0.00001
|
NM_001369.3(DNAH5):c.8440_8447del (p.Lys2813_Glu2814insTer)
|
rs755136231
|
0.00001
|
NM_001369.3(DNAH5):c.8449-3C>T
|
rs772481411
|
0.00001
|
NM_001369.3(DNAH5):c.9347G>A (p.Arg3116Gln)
|
rs745557874
|
0.00001
|
NM_001369.3(DNAH5):c.950C>T (p.Ala317Val)
|
rs199691556
|
0.00001
|
NM_001369.3(DNAH5):c.9678G>A (p.Ala3226=)
|
rs547729937
|
0.00001
|
NM_001377.3(DYNC2H1):c.*270A>G
|
rs913800042
|
0.00001
|
NM_001377.3(DYNC2H1):c.*321T>C
|
rs1945677807
|
0.00001
|
NM_001377.3(DYNC2H1):c.-33C>T
|
rs547159267
|
0.00001
|
NM_001377.3(DYNC2H1):c.1000-7A>G
|
rs745325616
|
0.00001
|
NM_001377.3(DYNC2H1):c.10491G>C (p.Glu3497Asp)
|
rs886047575
|
0.00001
|
NM_001377.3(DYNC2H1):c.10532A>C (p.Lys3511Thr)
|
rs772570923
|
0.00001
|
NM_001377.3(DYNC2H1):c.10848T>G (p.Ser3616=)
|
rs199958495
|
0.00001
|
NM_001377.3(DYNC2H1):c.11253C>T (p.His3751=)
|
rs760751244
|
0.00001
|
NM_001377.3(DYNC2H1):c.11310T>G (p.Cys3770Trp)
|
rs771899759
|
0.00001
|
NM_001377.3(DYNC2H1):c.11416C>T (p.Arg3806Cys)
|
rs754753584
|
0.00001
|
NM_001377.3(DYNC2H1):c.11635A>C (p.Asn3879His)
|
rs1396615880
|
0.00001
|
NM_001377.3(DYNC2H1):c.11970C>T (p.Asp3990=)
|
rs370818346
|
0.00001
|
NM_001377.3(DYNC2H1):c.12495T>C (p.Ser4165=)
|
rs202199079
|
0.00001
|
NM_001377.3(DYNC2H1):c.12622C>T (p.Leu4208=)
|
rs752163457
|
0.00001
|
NM_001377.3(DYNC2H1):c.12693A>G (p.Gln4231=)
|
rs371640317
|
0.00001
|
NM_001377.3(DYNC2H1):c.1320A>C (p.Glu440Asp)
|
rs760475860
|
0.00001
|
NM_001377.3(DYNC2H1):c.1506T>C (p.Ile502=)
|
rs754192939
|
0.00001
|
NM_001377.3(DYNC2H1):c.2439T>C (p.Phe813=)
|
rs143172984
|
0.00001
|
NM_001377.3(DYNC2H1):c.2470A>G (p.Ile824Val)
|
rs758399640
|
0.00001
|
NM_001377.3(DYNC2H1):c.2574+9C>T
|
rs777840832
|
0.00001
|
NM_001377.3(DYNC2H1):c.2922T>C (p.Ser974=)
|
rs761013187
|
0.00001
|
NM_001377.3(DYNC2H1):c.337C>T (p.Arg113Trp)
|
rs745569868
|
0.00001
|
NM_001377.3(DYNC2H1):c.3744A>G (p.Lys1248=)
|
rs994362377
|
0.00001
|
NM_001377.3(DYNC2H1):c.3920G>A (p.Cys1307Tyr)
|
rs201819231
|
0.00001
|
NM_001377.3(DYNC2H1):c.4611+14C>T
|
rs766124250
|
0.00001
|
NM_001377.3(DYNC2H1):c.4718A>C (p.Gln1573Pro)
|
rs1455268008
|
0.00001
|
NM_001377.3(DYNC2H1):c.4923T>C (p.Cys1641=)
|
rs376188702
|
0.00001
|
NM_001377.3(DYNC2H1):c.5335-14A>G
|
rs372488002
|
0.00001
|
NM_001377.3(DYNC2H1):c.539T>C (p.Ile180Thr)
|
rs886047559
|
0.00001
|
NM_001377.3(DYNC2H1):c.5472T>C (p.Leu1824=)
|
rs886047564
|
0.00001
|
NM_001377.3(DYNC2H1):c.5512G>A (p.Ala1838Thr)
|
rs777912444
|
0.00001
|
NM_001377.3(DYNC2H1):c.5873A>G (p.Gln1958Arg)
|
rs1301448943
|
0.00001
|
NM_001377.3(DYNC2H1):c.6372T>C (p.Ser2124=)
|
rs1386325793
|
0.00001
|
NM_001377.3(DYNC2H1):c.6691T>A (p.Tyr2231Asn)
|
rs1410904165
|
0.00001
|
NM_001377.3(DYNC2H1):c.6849T>G (p.Thr2283=)
|
rs886047565
|
0.00001
|
NM_001377.3(DYNC2H1):c.7031G>A (p.Arg2344His)
|
rs775250788
|
0.00001
|
NM_001377.3(DYNC2H1):c.7304G>A (p.Arg2435Lys)
|
rs752086730
|
0.00001
|
NM_001377.3(DYNC2H1):c.7782A>G (p.Pro2594=)
|
rs886047566
|
0.00001
|
NM_001377.3(DYNC2H1):c.8946+10A>C
|
rs550521675
|
0.00001
|
NM_001377.3(DYNC2H1):c.8991C>T (p.Pro2997=)
|
rs765905797
|
0.00001
|
NM_001377.3(DYNC2H1):c.9384G>A (p.Arg3128=)
|
rs930832327
|
0.00001
|
NM_001377.3(DYNC2H1):c.9391G>A (p.Glu3131Lys)
|
rs983700534
|
0.00001
|
NM_001377.3(DYNC2H1):c.9463G>A (p.Ala3155Thr)
|
rs375920909
|
0.00001
|
NM_001377.3(DYNC2H1):c.9577A>G (p.Ile3193Val)
|
rs886047571
|
0.00001
|
NM_001378454.1(ALMS1):c.1865A>G (p.Tyr622Cys)
|
rs193922693
|
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.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.2486+8A>G
|
rs749186859
|
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.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.3524A>G (p.His1175Arg)
|
rs886059184
|
0.00001
|
NM_001378615.1(CC2D2A):c.3529C>T (p.Arg1177Cys)
|
rs371561652
|
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.541-5G>A
|
rs369022150
|
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_001384732.1(CPLANE1):c.*427G>A
|
rs921198091
|
0.00001
|
NM_001384732.1(CPLANE1):c.*465G>A
|
rs886060570
|
0.00001
|
NM_001384732.1(CPLANE1):c.*471A>T
|
rs1282754215
|
0.00001
|
NM_001384732.1(CPLANE1):c.*897C>T
|
rs369092543
|
0.00001
|
NM_001384732.1(CPLANE1):c.*94G>T
|
rs886060571
|
0.00001
|
NM_001384732.1(CPLANE1):c.-24T>C
|
rs1740201460
|
0.00001
|
NM_001384732.1(CPLANE1):c.2207G>A (p.Ser736Asn)
|
rs765826864
|
0.00001
|
NM_001384732.1(CPLANE1):c.2325A>T (p.Lys775Asn)
|
rs1313704320
|
0.00001
|
NM_001384732.1(CPLANE1):c.2393T>A (p.Met798Lys)
|
rs1485682690
|
0.00001
|
NM_001384732.1(CPLANE1):c.2664T>A (p.Asp888Glu)
|
rs1287231108
|
0.00001
|
NM_001384732.1(CPLANE1):c.2885A>G (p.His962Arg)
|
rs926554823
|
0.00001
|
NM_001384732.1(CPLANE1):c.2933G>A (p.Arg978Gln)
|
rs992985282
|
0.00001
|
NM_001384732.1(CPLANE1):c.361T>C (p.Tyr121His)
|
rs886060587
|
0.00001
|
NM_001384732.1(CPLANE1):c.4765C>T (p.Leu1589Phe)
|
rs751890710
|
0.00001
|
NM_001384732.1(CPLANE1):c.4787T>C (p.Val1596Ala)
|
rs1186525850
|
0.00001
|
NM_001384732.1(CPLANE1):c.4948T>C (p.Ser1650Pro)
|
rs536461045
|
0.00001
|
NM_001384732.1(CPLANE1):c.5152A>G (p.Ile1718Val)
|
rs886060578
|
0.00001
|
NM_001384732.1(CPLANE1):c.5210T>C (p.Leu1737Pro)
|
rs781211084
|
0.00001
|
NM_001384732.1(CPLANE1):c.5422-12G>A
|
rs1561517509
|
0.00001
|
NM_001384732.1(CPLANE1):c.6700C>T (p.Gln2234Ter)
|
rs1381740657
|
0.00001
|
NM_001384732.1(CPLANE1):c.7360G>A (p.Glu2454Lys)
|
rs867750018
|
0.00001
|
NM_001384732.1(CPLANE1):c.745G>C (p.Glu249Gln)
|
rs757197770
|
0.00001
|
NM_001384732.1(CPLANE1):c.7478G>A (p.Arg2493Gln)
|
rs183942272
|
0.00001
|
NM_001384732.1(CPLANE1):c.7588+8T>C
|
rs377295986
|
0.00001
|
NM_001384732.1(CPLANE1):c.7914G>A (p.Gln2638=)
|
rs750429337
|
0.00001
|
NM_001384732.1(CPLANE1):c.792T>C (p.Asp264=)
|
rs886060585
|
0.00001
|
NM_001384732.1(CPLANE1):c.7955A>G (p.His2652Arg)
|
rs373755833
|
0.00001
|
NM_001384732.1(CPLANE1):c.8830G>C (p.Asp2944His)
|
rs761880579
|
0.00001
|
NM_001384732.1(CPLANE1):c.959T>C (p.Ile320Thr)
|
rs886060584
|
0.00001
|
NM_006642.5(SDCCAG8):c.-106G>T
|
rs886046328
|
0.00001
|
NM_006642.5(SDCCAG8):c.1404G>A (p.Lys468=)
|
rs759125934
|
0.00001
|
NM_006642.5(SDCCAG8):c.1517A>G (p.His506Arg)
|
rs745351109
|
0.00001
|
NM_006642.5(SDCCAG8):c.1690G>C (p.Glu564Gln)
|
rs750265815
|
0.00001
|
NM_006642.5(SDCCAG8):c.1783T>G (p.Phe595Val)
|
rs776765317
|
0.00001
|
NM_006642.5(SDCCAG8):c.1973C>T (p.Thr658Met)
|
rs1057515530
|
0.00001
|
NM_006642.5(SDCCAG8):c.542C>T (p.Ala181Val)
|
rs372403021
|
0.00001
|
NM_006642.5(SDCCAG8):c.574A>G (p.Thr192Ala)
|
rs1003029505
|
0.00001
|
NM_012144.4(DNAI1):c.1020-14A>T
|
rs777973486
|
0.00001
|
NM_012144.4(DNAI1):c.1489+8C>A
|
rs547508610
|
0.00001
|
NM_012144.4(DNAI1):c.1551G>A (p.Glu517=)
|
rs751010917
|
0.00001
|
NM_012144.4(DNAI1):c.169T>C (p.Leu57=)
|
rs779175158
|
0.00001
|
NM_012144.4(DNAI1):c.1719-11C>T
|
rs774758389
|
0.00001
|
NM_012144.4(DNAI1):c.1772C>T (p.Ala591Val)
|
rs751197523
|
0.00001
|
NM_012144.4(DNAI1):c.181G>A (p.Glu61Lys)
|
rs1354143118
|
0.00001
|
NM_012144.4(DNAI1):c.2029G>A (p.Gly677Ser)
|
rs556105721
|
0.00001
|
NM_012144.4(DNAI1):c.203G>A (p.Arg68Gln)
|
rs771320807
|
0.00001
|
NM_012144.4(DNAI1):c.2048C>T (p.Ala683Val)
|
rs535760702
|
0.00001
|
NM_012144.4(DNAI1):c.359G>A (p.Arg120Gln)
|
rs375547221
|
0.00001
|
NM_012144.4(DNAI1):c.385G>A (p.Ala129Thr)
|
rs1403317407
|
0.00001
|
NM_012144.4(DNAI1):c.389-15C>T
|
rs886063881
|
0.00001
|
NM_012144.4(DNAI1):c.614C>G (p.Pro205Arg)
|
rs752018316
|
0.00001
|
NM_012144.4(DNAI1):c.676A>C (p.Asn226His)
|
rs769349211
|
0.00001
|
NM_012144.4(DNAI1):c.727A>G (p.Lys243Glu)
|
rs775818668
|
0.00001
|
NM_012144.4(DNAI1):c.919G>A (p.Asp307Asn)
|
rs773243879
|
0.00001
|
NM_012210.4(TRIM32):c.*112G>A
|
rs886063380
|
0.00001
|
NM_012210.4(TRIM32):c.*283G>T
|
rs886063381
|
0.00001
|
NM_012210.4(TRIM32):c.*676G>T
|
rs541032542
|
0.00001
|
NM_012210.4(TRIM32):c.1306A>G (p.Met436Val)
|
rs746383181
|
0.00001
|
NM_012210.4(TRIM32):c.1383C>T (p.Cys461=)
|
rs200244154
|
0.00001
|
NM_012210.4(TRIM32):c.1386G>A (p.Val462=)
|
rs762905941
|
0.00001
|
NM_012210.4(TRIM32):c.1432T>G (p.Leu478Val)
|
rs371002754
|
0.00001
|
NM_012210.4(TRIM32):c.69C>T (p.Cys23=)
|
rs575633576
|
0.00001
|
NM_012472.6(DNAAF11):c.1178A>G (p.Lys393Arg)
|
rs776429452
|
0.00001
|
NM_012472.6(DNAAF11):c.49G>A (p.Asp17Asn)
|
rs911389891
|
0.00001
|
NM_014714.4(IFT140):c.*207C>T
|
rs1192536789
|
0.00001
|
NM_014714.4(IFT140):c.-221-6T>A
|
rs886051772
|
0.00001
|
NM_014714.4(IFT140):c.-6T>A
|
rs886051771
|
0.00001
|
NM_014714.4(IFT140):c.1402G>A (p.Glu468Lys)
|
rs756882000
|
0.00001
|
NM_014714.4(IFT140):c.1452G>A (p.Thr484=)
|
rs914258252
|
0.00001
|
NM_014714.4(IFT140):c.1480G>A (p.Val494Ile)
|
rs767571875
|
0.00001
|
NM_014714.4(IFT140):c.1559C>T (p.Thr520Ile)
|
rs1321089981
|
0.00001
|
NM_014714.4(IFT140):c.1807G>A (p.Asp603Asn)
|
rs138674110
|
0.00001
|
NM_014714.4(IFT140):c.1872G>A (p.Thr624=)
|
rs775156902
|
0.00001
|
NM_014714.4(IFT140):c.1959G>A (p.Trp653Ter)
|
rs770731272
|
0.00001
|
NM_014714.4(IFT140):c.2012G>A (p.Arg671His)
|
rs1372026395
|
0.00001
|
NM_014714.4(IFT140):c.2261T>C (p.Val754Ala)
|
rs754474621
|
0.00001
|
NM_014714.4(IFT140):c.2908G>A (p.Glu970Lys)
|
rs143720412
|
0.00001
|
NM_014714.4(IFT140):c.298C>G (p.Leu100Val)
|
rs546498421
|
0.00001
|
NM_014714.4(IFT140):c.3086C>T (p.Ala1029Val)
|
rs757852837
|
0.00001
|
NM_014714.4(IFT140):c.3402C>T (p.Ile1134=)
|
rs761692949
|
0.00001
|
NM_014714.4(IFT140):c.3403G>A (p.Glu1135Lys)
|
rs774170824
|
0.00001
|
NM_014714.4(IFT140):c.3501C>T (p.Thr1167=)
|
rs377319314
|
0.00001
|
NM_014714.4(IFT140):c.3525C>G (p.Thr1175=)
|
rs752664070
|
0.00001
|
NM_014714.4(IFT140):c.3566G>A (p.Arg1189Gln)
|
rs149837281
|
0.00001
|
NM_014714.4(IFT140):c.3685G>A (p.Gly1229Arg)
|
rs1203959141
|
0.00001
|
NM_014714.4(IFT140):c.36G>A (p.Pro12=)
|
rs574028286
|
0.00001
|
NM_014714.4(IFT140):c.3788C>T (p.Pro1263Leu)
|
rs775044452
|
0.00001
|
NM_014714.4(IFT140):c.4026C>T (p.Phe1342=)
|
rs776522454
|
0.00001
|
NM_014714.4(IFT140):c.422C>T (p.Thr141Met)
|
rs527332087
|
0.00001
|
NM_014714.4(IFT140):c.4251G>A (p.Pro1417=)
|
rs773095902
|
0.00001
|
NM_014714.4(IFT140):c.4278G>T (p.Gly1426=)
|
rs200161877
|
0.00001
|
NM_014714.4(IFT140):c.685G>A (p.Ala229Thr)
|
rs555382397
|
0.00001
|
NM_014714.4(IFT140):c.850G>A (p.Ala284Thr)
|
rs778404277
|
0.00001
|
NM_015102.4(NPHP4):c.-225G>A
|
rs886046469
|
0.00001
|
NM_015102.4(NPHP4):c.-237G>C
|
rs867788720
|
0.00001
|
NM_015102.5(NPHP4):c.*285G>A
|
rs1016860847
|
0.00001
|
NM_015102.5(NPHP4):c.*97T>A
|
rs1016911668
|
0.00001
|
NM_015102.5(NPHP4):c.-206C>A
|
rs539173372
|
0.00001
|
NM_015102.5(NPHP4):c.1047C>T (p.Val349=)
|
rs560597983
|
0.00001
|
NM_015102.5(NPHP4):c.1065G>A (p.Ala355=)
|
rs562484051
|
0.00001
|
NM_015102.5(NPHP4):c.135+15T>C
|
rs766470480
|
0.00001
|
NM_015102.5(NPHP4):c.1397A>G (p.Lys466Arg)
|
rs373787394
|
0.00001
|
NM_015102.5(NPHP4):c.1405C>T (p.Arg469Trp)
|
rs758253306
|
0.00001
|
NM_015102.5(NPHP4):c.1781C>T (p.Ser594Leu)
|
rs576761309
|
0.00001
|
NM_015102.5(NPHP4):c.2051A>G (p.Gln684Arg)
|
rs200667197
|
0.00001
|
NM_015102.5(NPHP4):c.2304+5C>T
|
rs367651042
|
0.00001
|
NM_015102.5(NPHP4):c.2459G>A (p.Arg820Gln)
|
rs759656675
|
0.00001
|
NM_015102.5(NPHP4):c.2701C>T (p.Pro901Ser)
|
rs886046464
|
0.00001
|
NM_015102.5(NPHP4):c.2710G>A (p.Val904Ile)
|
rs886046463
|
0.00001
|
NM_015102.5(NPHP4):c.3027C>T (p.Ile1009=)
|
rs762202268
|
0.00001
|
NM_015102.5(NPHP4):c.3645-15C>T
|
rs558429618
|
0.00001
|
NM_015102.5(NPHP4):c.3688C>G (p.Leu1230Val)
|
rs1226725565
|
0.00001
|
NM_015102.5(NPHP4):c.3864C>T (p.Asp1288=)
|
rs886046459
|
0.00001
|
NM_015120.4(ALMS1):c.-53C>T
|
rs868088238
|
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.166C>T (p.Arg56Cys)
|
rs755258407
|
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.2201G>A (p.Arg734Gln)
|
rs117364872
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2259G>A (p.Leu753=)
|
rs768672275
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2327C>T (p.Thr776Ile)
|
rs771545136
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3101C>T (p.Thr1034Ile)
|
rs780672507
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3179C>T (p.Ser1060Phe)
|
rs371616177
|
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.3824A>G (p.Gln1275Arg)
|
rs776310931
|
0.00001
|
NM_015272.5(RPGRIP1L):c.622A>G (p.Ile208Val)
|
rs1167981125
|
0.00001
|
NM_015681.6(B9D1):c.-79C>G
|
rs529182605
|
0.00001
|
NM_015681.6(B9D1):c.457G>A (p.Gly153Ser)
|
rs372249324
|
0.00001
|
NM_015681.6(B9D1):c.90C>T (p.Cys30=)
|
rs886052685
|
0.00001
|
NM_015910.6(WDPCP):c.-301G>A
|
rs886056227
|
0.00001
|
NM_015910.7(WDPCP):c.1448G>A (p.Arg483Gln)
|
rs544657165
|
0.00001
|
NM_015910.7(WDPCP):c.1576G>A (p.Ala526Thr)
|
rs534102944
|
0.00001
|
NM_015910.7(WDPCP):c.2169G>C (p.Leu723=)
|
rs746225322
|
0.00001
|
NM_015910.7(WDPCP):c.255A>G (p.Ser85=)
|
rs1252079324
|
0.00001
|
NM_015910.7(WDPCP):c.486C>T (p.Asp162=)
|
rs372538263
|
0.00001
|
NM_016464.4(TMEM138):c.-304C>A
|
rs548180077
|
0.00001
|
NM_016464.5(TMEM138):c.-17G>A
|
rs757369483
|
0.00001
|
NM_016464.5(TMEM138):c.308G>A (p.Arg103His)
|
rs781769843
|
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_017777.4(MKS1):c.102A>G (p.Thr34=)
|
rs886053171
|
0.00001
|
NM_017777.4(MKS1):c.1209G>A (p.Ser403=)
|
rs770493819
|
0.00001
|
NM_017777.4(MKS1):c.1589-3C>T
|
rs752901746
|
0.00001
|
NM_017777.4(MKS1):c.214G>A (p.Glu72Lys)
|
rs753620277
|
0.00001
|
NM_017777.4(MKS1):c.447C>T (p.Ser149=)
|
rs750376903
|
0.00001
|
NM_017950.4(CCDC40):c.*517G>C
|
rs967873995
|
0.00001
|
NM_017950.4(CCDC40):c.1150C>T (p.Arg384Cys)
|
rs758068198
|
0.00001
|
NM_017950.4(CCDC40):c.1312A>T (p.Lys438Ter)
|
rs371595543
|
0.00001
|
NM_017950.4(CCDC40):c.142G>A (p.Gly48Ser)
|
rs2289526
|
0.00001
|
NM_017950.4(CCDC40):c.1898G>A (p.Arg633Gln)
|
rs759468416
|
0.00001
|
NM_017950.4(CCDC40):c.2070A>C (p.Ala690=)
|
rs758677009
|
0.00001
|
NM_017950.4(CCDC40):c.2497A>G (p.Met833Val)
|
rs376911979
|
0.00001
|
NM_017950.4(CCDC40):c.2585G>A (p.Arg862Gln)
|
rs755608579
|
0.00001
|
NM_017950.4(CCDC40):c.2832+4A>T
|
rs756602466
|
0.00001
|
NM_017950.4(CCDC40):c.3013G>A (p.Val1005Ile)
|
rs775788498
|
0.00001
|
NM_017950.4(CCDC40):c.3196G>A (p.Val1066Met)
|
rs374932269
|
0.00001
|
NM_017950.4(CCDC40):c.3245G>A (p.Arg1082His)
|
rs773033304
|
0.00001
|
NM_017950.4(CCDC40):c.3365A>C (p.Gln1122Pro)
|
rs778612110
|
0.00001
|
NM_017950.4(CCDC40):c.388G>A (p.Asp130Asn)
|
rs758879011
|
0.00001
|
NM_017950.4(CCDC40):c.608G>A (p.Arg203His)
|
rs764262876
|
0.00001
|
NM_018139.3(DNAAF2):c.*191A>G
|
rs886050525
|
0.00001
|
NM_018139.3(DNAAF2):c.*290_*294del
|
rs886050524
|
0.00001
|
NM_018139.3(DNAAF2):c.1070C>T (p.Pro357Leu)
|
rs1389972313
|
0.00001
|
NM_018139.3(DNAAF2):c.1147G>A (p.Ala383Thr)
|
rs1176186096
|
0.00001
|
NM_018139.3(DNAAF2):c.1215T>G (p.Ala405=)
|
rs886050526
|
0.00001
|
NM_018139.3(DNAAF2):c.1825A>G (p.Arg609Gly)
|
rs768172147
|
0.00001
|
NM_018139.3(DNAAF2):c.196G>A (p.Glu66Lys)
|
rs779375480
|
0.00001
|
NM_018139.3(DNAAF2):c.2053A>G (p.Arg685Gly)
|
rs753870133
|
0.00001
|
NM_018139.3(DNAAF2):c.20C>T (p.Ser7Phe)
|
rs577796590
|
0.00001
|
NM_018139.3(DNAAF2):c.471C>T (p.His157=)
|
rs886050528
|
0.00001
|
NM_018139.3(DNAAF2):c.616C>A (p.Pro206Thr)
|
rs781591271
|
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.53C>T (p.Pro18Leu)
|
rs111688621
|
0.00001
|
NM_018718.3(CEP41):c.976C>T (p.Arg326Ter)
|
rs782286004
|
0.00001
|
NM_019892.6(INPP5E):c.*721C>T
|
rs886063710
|
0.00001
|
NM_019892.6(INPP5E):c.-41C>T
|
rs1170873095
|
0.00001
|
NM_019892.6(INPP5E):c.1453G>A (p.Gly485Arg)
|
rs768384414
|
0.00001
|
NM_019892.6(INPP5E):c.1530C>T (p.Leu510=)
|
rs780119172
|
0.00001
|
NM_019892.6(INPP5E):c.1686C>T (p.Ser562=)
|
rs760729838
|
0.00001
|
NM_019892.6(INPP5E):c.547C>T (p.Pro183Ser)
|
rs754964359
|
0.00001
|
NM_020779.4(WDR35):c.*2228C>T
|
rs1669828408
|
0.00001
|
NM_020779.4(WDR35):c.*2725G>T
|
rs886055396
|
0.00001
|
NM_020779.4(WDR35):c.*2726A>G
|
rs886055395
|
0.00001
|
NM_020779.4(WDR35):c.*2748G>T
|
rs886055394
|
0.00001
|
NM_020779.4(WDR35):c.*380G>A
|
rs886055401
|
0.00001
|
NM_020779.4(WDR35):c.*747C>T
|
rs1451842817
|
0.00001
|
NM_020779.4(WDR35):c.1348A>C (p.Thr450Pro)
|
rs771656961
|
0.00001
|
NM_020779.4(WDR35):c.1871T>G (p.Ile624Ser)
|
rs139252416
|
0.00001
|
NM_020779.4(WDR35):c.2165G>A (p.Arg722His)
|
rs758991146
|
0.00001
|
NM_020779.4(WDR35):c.2194A>C (p.Lys732Gln)
|
rs748476979
|
0.00001
|
NM_020779.4(WDR35):c.2220C>T (p.Phe740=)
|
rs535522970
|
0.00001
|
NM_020779.4(WDR35):c.2267+9T>C
|
rs376307803
|
0.00001
|
NM_020779.4(WDR35):c.2268-11T>G
|
rs745664606
|
0.00001
|
NM_020779.4(WDR35):c.2298G>A (p.Leu766=)
|
rs1287745296
|
0.00001
|
NM_020779.4(WDR35):c.847G>A (p.Val283Met)
|
rs576085633
|
0.00001
|
NM_020779.4(WDR35):c.976A>G (p.Ile326Val)
|
rs1438742194
|
0.00001
|
NM_020800.3(IFT80):c.*102C>A
|
rs529617151
|
0.00001
|
NM_020800.3(IFT80):c.*104G>A
|
rs886058128
|
0.00001
|
NM_020800.3(IFT80):c.*1365C>G
|
rs1178230972
|
0.00001
|
NM_020800.3(IFT80):c.*551A>G
|
rs886058126
|
0.00001
|
NM_020800.3(IFT80):c.*659C>G
|
rs560527597
|
0.00001
|
NM_020800.3(IFT80):c.*740G>T
|
rs1012212219
|
0.00001
|
NM_020800.3(IFT80):c.*792T>G
|
rs547025505
|
0.00001
|
NM_020800.3(IFT80):c.*797A>C
|
rs527576092
|
0.00001
|
NM_020800.3(IFT80):c.1053G>A (p.Thr351=)
|
rs746236656
|
0.00001
|
NM_020800.3(IFT80):c.1151+13G>A
|
rs766432950
|
0.00001
|
NM_020800.3(IFT80):c.1326C>T (p.Leu442=)
|
rs886058131
|
0.00001
|
NM_020800.3(IFT80):c.1499A>G (p.Glu500Gly)
|
rs554335278
|
0.00001
|
NM_020800.3(IFT80):c.38-1C>G
|
rs779785603
|
0.00001
|
NM_020800.3(IFT80):c.44A>G (p.Glu15Gly)
|
rs886058134
|
0.00001
|
NM_020800.3(IFT80):c.639+5A>G
|
rs527856744
|
0.00001
|
NM_020800.3(IFT80):c.957+15C>T
|
rs774479207
|
0.00001
|
NM_023036.6(DNAI2):c.-22G>A
|
rs551715321
|
0.00001
|
NM_023036.6(DNAI2):c.110T>C (p.Leu37Pro)
|
rs2051413297
|
0.00001
|
NM_023036.6(DNAI2):c.1602T>C (p.Asp534=)
|
rs376541043
|
0.00001
|
NM_023036.6(DNAI2):c.318C>T (p.Tyr106=)
|
rs764812763
|
0.00001
|
NM_023036.6(DNAI2):c.725-2A>C
|
rs1448501611
|
0.00001
|
NM_024649.5(BBS1):c.*1088G>A
|
rs886048531
|
0.00001
|
NM_024649.5(BBS1):c.*10T>A
|
rs765633556
|
0.00001
|
NM_024649.5(BBS1):c.*1274A>G
|
rs192684991
|
0.00001
|
NM_024649.5(BBS1):c.1310A>T (p.Gln437Leu)
|
rs374356964
|
0.00001
|
NM_024649.5(BBS1):c.1334G>C (p.Gly445Ala)
|
rs765829383
|
0.00001
|
NM_024649.5(BBS1):c.1383A>G (p.Leu461=)
|
rs557739576
|
0.00001
|
NM_024649.5(BBS1):c.1676G>A (p.Gly559Asp)
|
rs544767888
|
0.00001
|
NM_024649.5(BBS1):c.416G>A (p.Trp139Ter)
|
rs878855095
|
0.00001
|
NM_024649.5(BBS1):c.441C>T (p.Ile147=)
|
rs544997496
|
0.00001
|
NM_024649.5(BBS1):c.447C>T (p.Pro149=)
|
rs763738657
|
0.00001
|
NM_024649.5(BBS1):c.496C>G (p.Pro166Ala)
|
rs748946143
|
0.00001
|
NM_024649.5(BBS1):c.636C>T (p.Asp212=)
|
rs775900681
|
0.00001
|
NM_024649.5(BBS1):c.803G>A (p.Arg268His)
|
rs375949076
|
0.00001
|
NM_024649.5(BBS1):c.867C>T (p.Ser289=)
|
rs776322401
|
0.00001
|
NM_024685.3(BBS10):c.-66C>T
|
rs886049854
|
0.00001
|
NM_024685.4(BBS10):c.*1041G>T
|
rs1184051032
|
0.00001
|
NM_024685.4(BBS10):c.*1113G>C
|
rs1432385652
|
0.00001
|
NM_024685.4(BBS10):c.*119G>A
|
rs886049846
|
0.00001
|
NM_024685.4(BBS10):c.*264A>T
|
rs556444502
|
0.00001
|
NM_024685.4(BBS10):c.1339A>G (p.Ile447Val)
|
rs1460652135
|
0.00001
|
NM_024685.4(BBS10):c.1516T>A (p.Tyr506Asn)
|
rs750994616
|
0.00001
|
NM_024685.4(BBS10):c.1893G>C (p.Met631Ile)
|
rs144428139
|
0.00001
|
NM_024685.4(BBS10):c.1974T>C (p.Tyr658=)
|
rs376613074
|
0.00001
|
NM_024685.4(BBS10):c.1975A>T (p.Ile659Leu)
|
rs771355732
|
0.00001
|
NM_024685.4(BBS10):c.1992A>G (p.Ala664=)
|
rs758730453
|
0.00001
|
NM_024685.4(BBS10):c.270T>G (p.Leu90=)
|
rs200390697
|
0.00001
|
NM_024685.4(BBS10):c.393G>A (p.Gln131=)
|
rs369066076
|
0.00001
|
NM_024753.5(TTC21B):c.*1104G>A
|
rs1001278499
|
0.00001
|
NM_024753.5(TTC21B):c.*642C>T
|
rs547612425
|
0.00001
|
NM_024753.5(TTC21B):c.-16C>G
|
rs886055030
|
0.00001
|
NM_024753.5(TTC21B):c.-64G>A
|
rs886055031
|
0.00001
|
NM_024753.5(TTC21B):c.1432A>T (p.Ile478Phe)
|
rs948455096
|
0.00001
|
NM_024753.5(TTC21B):c.1478A>G (p.Gln493Arg)
|
rs748993825
|
0.00001
|
NM_024753.5(TTC21B):c.1732G>C (p.Glu578Gln)
|
rs377128320
|
0.00001
|
NM_024753.5(TTC21B):c.2258C>T (p.Pro753Leu)
|
rs539769126
|
0.00001
|
NM_024753.5(TTC21B):c.256A>C (p.Asn86His)
|
rs773555238
|
0.00001
|
NM_024753.5(TTC21B):c.3101+9A>G
|
rs764331829
|
0.00001
|
NM_024753.5(TTC21B):c.338A>G (p.His113Arg)
|
rs146865517
|
0.00001
|
NM_024753.5(TTC21B):c.3450A>G (p.Ala1150=)
|
rs767037992
|
0.00001
|
NM_024753.5(TTC21B):c.3500A>G (p.Tyr1167Cys)
|
rs1040877016
|
0.00001
|
NM_024753.5(TTC21B):c.481A>G (p.Thr161Ala)
|
rs568969576
|
0.00001
|
NM_024809.5(TCTN2):c.*559C>T
|
rs1427290366
|
0.00001
|
NM_024809.5(TCTN2):c.-15C>T
|
rs575728856
|
0.00001
|
NM_024809.5(TCTN2):c.1117G>A (p.Gly373Arg)
|
rs187433682
|
0.00001
|
NM_024809.5(TCTN2):c.1393+15T>C
|
rs541103051
|
0.00001
|
NM_024809.5(TCTN2):c.1394-6T>C
|
rs774357206
|
0.00001
|
NM_024809.5(TCTN2):c.1872A>G (p.Ala624=)
|
rs765238420
|
0.00001
|
NM_024809.5(TCTN2):c.301G>T (p.Gly101Cys)
|
rs757725319
|
0.00001
|
NM_024809.5(TCTN2):c.677G>A (p.Arg226His)
|
rs774785140
|
0.00001
|
NM_024809.5(TCTN2):c.796T>C (p.Tyr266His)
|
rs770325331
|
0.00001
|
NM_024809.5(TCTN2):c.887C>T (p.Pro296Leu)
|
rs750458642
|
0.00001
|
NM_024809.5(TCTN2):c.908A>T (p.Gln303Leu)
|
rs759754931
|
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.1345A>G (p.Lys449Glu)
|
rs747463477
|
0.00001
|
NM_025114.4(CEP290):c.2216A>T (p.Lys739Met)
|
rs1378036383
|
0.00001
|
NM_025114.4(CEP290):c.2348A>G (p.Tyr783Cys)
|
rs780990839
|
0.00001
|
NM_025114.4(CEP290):c.274A>G (p.Met92Val)
|
rs951351175
|
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.3176T>A (p.Ile1059Lys)
|
rs928926898
|
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.4257C>A (p.Asp1419Glu)
|
rs771898047
|
0.00001
|
NM_025114.4(CEP290):c.4854G>T (p.Lys1618Asn)
|
rs747852436
|
0.00001
|
NM_025114.4(CEP290):c.5543A>G (p.Asp1848Gly)
|
rs563967678
|
0.00001
|
NM_025114.4(CEP290):c.5764A>C (p.Ile1922Leu)
|
rs746949236
|
0.00001
|
NM_025114.4(CEP290):c.6493A>T (p.Asn2165Tyr)
|
rs769886105
|
0.00001
|
NM_025132.4(WDR19):c.1248T>C (p.Asn416=)
|
rs772867899
|
0.00001
|
NM_025132.4(WDR19):c.1932G>A (p.Thr644=)
|
rs886059398
|
0.00001
|
NM_025132.4(WDR19):c.1960G>A (p.Ala654Thr)
|
rs1024499799
|
0.00001
|
NM_025132.4(WDR19):c.3068A>C (p.Tyr1023Ser)
|
rs759424617
|
0.00001
|
NM_025132.4(WDR19):c.935T>C (p.Ile312Thr)
|
rs886059396
|
0.00001
|
NM_031885.3(BBS2):c.-199A>T
|
rs569642995
|
0.00001
|
NM_031885.5(BBS2):c.1134A>G (p.Pro378=)
|
rs185178790
|
0.00001
|
NM_031885.5(BBS2):c.1226-11C>T
|
rs371851180
|
0.00001
|
NM_031885.5(BBS2):c.1438C>T (p.Arg480Ter)
|
rs778090540
|
0.00001
|
NM_031885.5(BBS2):c.1486A>G (p.Ile496Val)
|
rs549070573
|
0.00001
|
NM_031885.5(BBS2):c.1662C>G (p.Ile554Met)
|
rs774112668
|
0.00001
|
NM_031885.5(BBS2):c.327G>A (p.Ser109=)
|
rs770497817
|
0.00001
|
NM_031885.5(BBS2):c.408G>A (p.Ala136=)
|
rs771554929
|
0.00001
|
NM_031885.5(BBS2):c.534+7G>C
|
rs886052149
|
0.00001
|
NM_031885.5(BBS2):c.603A>C (p.Thr201=)
|
rs768647514
|
0.00001
|
NM_031885.5(BBS2):c.78G>A (p.Gly26=)
|
rs759629466
|
0.00001
|
NM_033028.5(BBS4):c.*522A>G
|
rs531501103
|
0.00001
|
NM_033028.5(BBS4):c.*581T>A
|
rs936319236
|
0.00001
|
NM_033028.5(BBS4):c.*643A>C
|
rs886051469
|
0.00001
|
NM_033028.5(BBS4):c.1029C>T (p.Leu343=)
|
rs1000977139
|
0.00001
|
NM_033028.5(BBS4):c.1103A>G (p.Asp368Gly)
|
rs772548770
|
0.00001
|
NM_033028.5(BBS4):c.1179C>T (p.Ala393=)
|
rs780560947
|
0.00001
|
NM_033028.5(BBS4):c.1309A>G (p.Thr437Ala)
|
rs775122250
|
0.00001
|
NM_033028.5(BBS4):c.1512G>A (p.Ala504=)
|
rs369958857
|
0.00001
|
NM_033028.5(BBS4):c.1A>G (p.Met1Val)
|
rs773109542
|
0.00001
|
NM_033028.5(BBS4):c.63C>T (p.Pro21=)
|
rs267604309
|
0.00001
|
NM_033028.5(BBS4):c.684A>C (p.Ala228=)
|
rs35132058
|
0.00001
|
NM_144596.4(TTC8):c.275C>T (p.Thr92Met)
|
rs886050877
|
0.00001
|
NM_144596.4(TTC8):c.640G>A (p.Ala214Thr)
|
rs1295139564
|
0.00001
|
NM_144596.4(TTC8):c.950A>C (p.Glu317Ala)
|
rs1220094479
|
0.00001
|
NM_147127.5(EVC2):c.*68T>C
|
rs886059470
|
0.00001
|
NM_147127.5(EVC2):c.1346G>A (p.Arg449Gln)
|
rs774976776
|
0.00001
|
NM_147127.5(EVC2):c.1702A>G (p.Lys568Glu)
|
rs769178878
|
0.00001
|
NM_147127.5(EVC2):c.1931G>A (p.Arg644Gln)
|
rs773470850
|
0.00001
|
NM_147127.5(EVC2):c.1998G>A (p.Lys666=)
|
rs201835379
|
0.00001
|
NM_147127.5(EVC2):c.3007G>A (p.Glu1003Lys)
|
rs555666020
|
0.00001
|
NM_147127.5(EVC2):c.3178G>A (p.Glu1060Lys)
|
rs779884599
|
0.00001
|
NM_147127.5(EVC2):c.3543C>T (p.Asp1181=)
|
rs762696562
|
0.00001
|
NM_147127.5(EVC2):c.3643C>T (p.Arg1215Cys)
|
rs763433901
|
0.00001
|
NM_147127.5(EVC2):c.451-15T>C
|
rs554022197
|
0.00001
|
NM_147127.5(EVC2):c.706+13C>T
|
rs371526145
|
0.00001
|
NM_147127.5(EVC2):c.737C>G (p.Ala246Gly)
|
rs765973029
|
0.00001
|
NM_152618.3(BBS12):c.1118A>G (p.Asn373Ser)
|
rs765821625
|
0.00001
|
NM_152618.3(BBS12):c.1156C>T (p.Arg386Trp)
|
rs202225266
|
0.00001
|
NM_152618.3(BBS12):c.1590A>G (p.Leu530=)
|
rs886059059
|
0.00001
|
NM_152618.3(BBS12):c.2016G>A (p.Ala672=)
|
rs186713451
|
0.00001
|
NM_152618.3(BBS12):c.2023C>T (p.Arg675Ter)
|
rs752202089
|
0.00001
|
NM_153240.5(NPHP3):c.*1098C>T
|
rs886057995
|
0.00001
|
NM_153240.5(NPHP3):c.*139T>G
|
rs886058001
|
0.00001
|
NM_153240.5(NPHP3):c.*351A>T
|
rs992880401
|
0.00001
|
NM_153240.5(NPHP3):c.*692C>T
|
rs886057997
|
0.00001
|
NM_153240.5(NPHP3):c.1757C>G (p.Ser586Cys)
|
rs1939564898
|
0.00001
|
NM_153240.5(NPHP3):c.208C>T (p.Leu70=)
|
rs765533675
|
0.00001
|
NM_153240.5(NPHP3):c.2571-12C>G
|
rs886058003
|
0.00001
|
NM_153240.5(NPHP3):c.3563A>G (p.Lys1188Arg)
|
rs772079066
|
0.00001
|
NM_153240.5(NPHP3):c.3697-7T>A
|
rs777908405
|
0.00001
|
NM_153240.5(NPHP3):c.3875A>C (p.Glu1292Ala)
|
rs766281273
|
0.00001
|
NM_153704.6(TMEM67):c.*179T>C
|
rs886063174
|
0.00001
|
NM_153704.6(TMEM67):c.*761T>G
|
rs553442637
|
0.00001
|
NM_153704.6(TMEM67):c.1588G>A (p.Val530Ile)
|
rs774701716
|
0.00001
|
NM_153704.6(TMEM67):c.1976G>A (p.Arg659Gln)
|
rs769827614
|
0.00001
|
NM_153704.6(TMEM67):c.2278G>C (p.Glu760Gln)
|
rs1166437802
|
0.00001
|
NM_153704.6(TMEM67):c.269A>G (p.Asn90Ser)
|
rs1461948623
|
0.00001
|
NM_153704.6(TMEM67):c.2975G>T (p.Arg992Ile)
|
rs886063173
|
0.00001
|
NM_153704.6(TMEM67):c.29C>T (p.Ala10Val)
|
rs146838062
|
0.00001
|
NM_153717.3(EVC):c.*1008G>A
|
rs1217574266
|
0.00001
|
NM_153717.3(EVC):c.*1374G>C
|
rs549720489
|
0.00001
|
NM_153717.3(EVC):c.*1446A>G
|
rs754781931
|
0.00001
|
NM_153717.3(EVC):c.*1684A>G
|
rs886059515
|
0.00001
|
NM_153717.3(EVC):c.*2686G>A
|
rs545215581
|
0.00001
|
NM_153717.3(EVC):c.*2922A>C
|
rs886059518
|
0.00001
|
NM_153717.3(EVC):c.1428G>C (p.Glu476Asp)
|
rs571637567
|
0.00001
|
NM_153717.3(EVC):c.1462G>A (p.Glu488Lys)
|
rs146232611
|
0.00001
|
NM_153717.3(EVC):c.1463A>G (p.Glu488Gly)
|
rs764556070
|
0.00001
|
NM_153717.3(EVC):c.1821C>G (p.His607Gln)
|
rs779056864
|
0.00001
|
NM_153717.3(EVC):c.1878C>T (p.Leu626=)
|
rs375743004
|
0.00001
|
NM_153717.3(EVC):c.1942A>G (p.Arg648Gly)
|
rs1418345759
|
0.00001
|
NM_153717.3(EVC):c.1994C>T (p.Ser665Leu)
|
rs375340438
|
0.00001
|
NM_153717.3(EVC):c.2305-5C>G
|
rs760071065
|
0.00001
|
NM_153717.3(EVC):c.2522C>T (p.Ala841Val)
|
rs1378303023
|
0.00001
|
NM_153717.3(EVC):c.2740C>T (p.Leu914Phe)
|
rs370825749
|
0.00001
|
NM_153717.3(EVC):c.364C>T (p.Pro122Ser)
|
rs1407007311
|
0.00001
|
NM_153717.3(EVC):c.388C>T (p.Leu130=)
|
rs886059496
|
0.00001
|
NM_153717.3(EVC):c.581G>A (p.Arg194Gln)
|
rs777256784
|
0.00001
|
NM_153717.3(EVC):c.617G>A (p.Ser206Asn)
|
rs1017946059
|
0.00001
|
NM_153717.3(EVC):c.86C>T (p.Ala29Val)
|
rs1314509668
|
0.00001
|
NM_153717.3(EVC):c.878A>G (p.Tyr293Cys)
|
rs1252316234
|
0.00001
|
NM_170784.3(MKKS):c.*103A>G
|
rs965771888
|
0.00001
|
NM_170784.3(MKKS):c.-22A>C
|
rs531656259
|
0.00001
|
NM_170784.3(MKKS):c.-388A>G
|
rs945662294
|
0.00001
|
NM_170784.3(MKKS):c.-481T>A
|
rs886056502
|
0.00001
|
NM_170784.3(MKKS):c.-562C>T
|
rs886056503
|
0.00001
|
NM_170784.3(MKKS):c.-649+2366C>T
|
rs886056504
|
0.00001
|
NM_170784.3(MKKS):c.1057G>A (p.Ala353Thr)
|
rs1401483166
|
0.00001
|
NM_170784.3(MKKS):c.1269C>T (p.His423=)
|
rs144313303
|
0.00001
|
NM_170784.3(MKKS):c.1645C>T (p.Leu549=)
|
rs1010755325
|
0.00001
|
NM_176824.3(BBS7):c.*1361A>T
|
rs544492413
|
0.00001
|
NM_176824.3(BBS7):c.*996T>C
|
rs886059049
|
0.00001
|
NM_176824.3(BBS7):c.-137A>G
|
rs1727529496
|
0.00001
|
NM_176824.3(BBS7):c.1306-5C>T
|
rs1475632900
|
0.00001
|
NM_176824.3(BBS7):c.1334A>G (p.Tyr445Cys)
|
rs776931328
|
0.00001
|
NM_176824.3(BBS7):c.1442G>A (p.Cys481Tyr)
|
rs886059053
|
0.00001
|
NM_176824.3(BBS7):c.651G>A (p.Ala217=)
|
rs750691939
|
0.00001
|
NM_178452.6(DNAAF1):c.1098C>T (p.Pro366=)
|
rs1014231886
|
0.00001
|
NM_178452.6(DNAAF1):c.1400C>A (p.Thr467Asn)
|
rs753030611
|
0.00001
|
NM_178452.6(DNAAF1):c.149G>A (p.Cys50Tyr)
|
rs747363759
|
0.00001
|
NM_178452.6(DNAAF1):c.1747A>G (p.Ser583Gly)
|
rs750500335
|
0.00001
|
NM_178452.6(DNAAF1):c.1847C>T (p.Ala616Val)
|
rs374900685
|
0.00001
|
NM_178452.6(DNAAF1):c.2070G>A (p.Pro690=)
|
rs772036783
|
0.00001
|
NM_178452.6(DNAAF1):c.842G>T (p.Arg281Ile)
|
rs754950357
|
0.00001
|
NM_178452.6(DNAAF1):c.997G>A (p.Glu333Lys)
|
rs1259556318
|
0.00001
|
NM_181426.1(CCDC39):c.-110C>T
|
rs886058201
|
0.00001
|
NM_181426.2(CCDC39):c.*157T>C
|
rs886058196
|
0.00001
|
NM_181426.2(CCDC39):c.*405A>G
|
rs1027319344
|
0.00001
|
NM_181426.2(CCDC39):c.*753G>A
|
rs540779727
|
0.00001
|
NM_181426.2(CCDC39):c.1102A>G (p.Met368Val)
|
rs564446820
|
0.00001
|
NM_181426.2(CCDC39):c.2079C>T (p.Tyr693=)
|
rs376782159
|
0.00001
|
NM_181426.2(CCDC39):c.2101G>A (p.Val701Met)
|
rs373567562
|
0.00001
|
NM_181426.2(CCDC39):c.2823A>G (p.Lys941=)
|
rs751844801
|
0.00001
|
NM_181426.2(CCDC39):c.551A>C (p.Glu184Ala)
|
rs752974826
|
0.00001
|
NM_181426.2(CCDC39):c.863G>A (p.Arg288His)
|
rs576805965
|
0.00001
|
NM_198428.3(BBS9):c.*12T>C
|
rs770978235
|
0.00001
|
NM_198428.3(BBS9):c.*585C>T
|
rs1273092896
|
0.00001
|
NM_198428.3(BBS9):c.*801G>A
|
rs1216449046
|
0.00001
|
NM_198428.3(BBS9):c.-163G>C
|
rs886062281
|
0.00001
|
NM_198428.3(BBS9):c.-271G>A
|
rs886062280
|
0.00001
|
NM_198428.3(BBS9):c.1210A>G (p.Met404Val)
|
rs779666112
|
0.00001
|
NM_198428.3(BBS9):c.1329+5T>C
|
rs200033003
|
0.00001
|
NM_198428.3(BBS9):c.1537+14C>T
|
rs754694089
|
0.00001
|
NM_198428.3(BBS9):c.1645A>G (p.Thr549Ala)
|
rs1310602174
|
0.00001
|
NM_198428.3(BBS9):c.1910C>T (p.Ser637Leu)
|
rs771777721
|
0.00001
|
NM_198428.3(BBS9):c.2032C>T (p.Arg678Cys)
|
rs746543061
|
0.00001
|
NM_198428.3(BBS9):c.2070C>G (p.Ala690=)
|
rs200515072
|
0.00001
|
NM_198428.3(BBS9):c.272A>T (p.Glu91Val)
|
rs886062283
|
0.00001
|
NM_198428.3(BBS9):c.938A>G (p.His313Arg)
|
rs533714503
|
0.00001
|
NM_198525.3(KIF7):c.1218C>G (p.Gly406=)
|
rs886051536
|
0.00001
|
NM_198525.3(KIF7):c.1894C>G (p.Pro632Ala)
|
rs1254624184
|
0.00001
|
NM_198525.3(KIF7):c.2074C>G (p.Gln692Glu)
|
rs565633539
|
0.00001
|
NM_198525.3(KIF7):c.2132G>A (p.Arg711Gln)
|
rs368873919
|
0.00001
|
NM_198525.3(KIF7):c.218C>T (p.Ala73Val)
|
rs552362795
|
0.00001
|
NM_198525.3(KIF7):c.2216G>A (p.Arg739His)
|
rs943930875
|
0.00001
|
NM_198525.3(KIF7):c.2571C>G (p.Ser857Arg)
|
rs764572782
|
0.00001
|
NM_198525.3(KIF7):c.3112-10G>A
|
rs370548253
|
0.00001
|
NM_198525.3(KIF7):c.3477G>A (p.Glu1159=)
|
rs886192389
|
0.00001
|
NM_198525.3(KIF7):c.3894G>A (p.Ala1298=)
|
rs370333561
|
0.00001
|
NM_198525.3(KIF7):c.3957G>T (p.Gly1319=)
|
rs886051529
|
0.00001
|
NM_198525.3(KIF7):c.619G>A (p.Ala207Thr)
|
rs886051542
|
0.00001
|
NM_198525.3(KIF7):c.623C>T (p.Thr208Met)
|
rs886051541
|
0.00001
|
NM_198525.3(KIF7):c.643A>G (p.Ser215Gly)
|
rs886051540
|
0.00001
|
NM_198525.3(KIF7):c.719C>T (p.Pro240Leu)
|
rs886051539
|
0.00001
|
NM_213607.3(CCDC103):c.*19G>C
|
rs1394506445
|
0.00001
|
NM_213607.3(CCDC103):c.-11G>A
|
rs886053013
|
0.00001
|
NM_213607.3(CCDC103):c.-135C>T
|
rs778315117
|
0.00001
|
NM_213607.3(CCDC103):c.-16C>T
|
rs2051488704
|
0.00001
|
NM_213607.3(CCDC103):c.348G>C (p.Gly116=)
|
rs575078578
|
0.00001
|
NM_213607.3(CCDC103):c.513G>A (p.Ala171=)
|
rs557822238
|
0.00001
|
NM_213607.3(CCDC103):c.554G>A (p.Arg185Gln)
|
rs182319938
|
0.00001
|
NM_213607.3(CCDC103):c.671G>C (p.Gly224Ala)
|
rs771395013
|
0.00001
|
NM_213607.3(CCDC103):c.72G>A (p.Glu24=)
|
rs752532336
|
0.00001
|
NM_213607.3(CCDC103):c.8G>A (p.Arg3Lys)
|
rs886053014
|
0.00001
|
NM_000152.5(GAA):c.-325C>T
|
rs1402918119
|
|
NM_000152.5(GAA):c.-75C>G
|
rs80020206
|
|
NM_001006657.1(WDR35):c.*3299C>T
|
rs1669790644
|
|
NM_001009894.3(RLIG1):c.*618TATT[1]
|
rs886049876
|
|
NM_001009894.3(RLIG1):c.*743_*746del
|
rs142288119
|
|
NM_001010892.3(RSPH4A):c.*223A>T
|
rs1775827195
|
|
NM_001010892.3(RSPH4A):c.*224C>T
|
rs886060996
|
|
NM_001010892.3(RSPH4A):c.*38AC[6]
|
rs149281216
|
|
NM_001010892.3(RSPH4A):c.*500G>A
|
rs886060997
|
|
NM_001010892.3(RSPH4A):c.-16_-12delinsCACGCCCCTTTCATCCA
|
rs727504884
|
|
NM_001010892.3(RSPH4A):c.-50T>C
|
rs1775505157
|
|
NM_001010892.3(RSPH4A):c.1377G>A (p.Lys459=)
|
rs563352149
|
|
NM_001010892.3(RSPH4A):c.1514T>C (p.Phe505Ser)
|
rs565491418
|
|
NM_001010892.3(RSPH4A):c.1843C>G (p.Leu615Val)
|
rs886060994
|
|
NM_001010892.3(RSPH4A):c.198A>G (p.Arg66=)
|
rs1775511668
|
|
NM_001010892.3(RSPH4A):c.2081A>G (p.Glu694Gly)
|
rs1483719333
|
|
NM_001010892.3(RSPH4A):c.586G>A (p.Ala196Thr)
|
rs1436446801
|
|
NM_001023570.4(IQCB1):c.*197G>C
|
rs1135750
|
|
NM_001023570.4(IQCB1):c.*226T>C
|
rs886057822
|
|
NM_001023570.4(IQCB1):c.-147_-142del
|
rs72421117
|
|
NM_001023570.4(IQCB1):c.-154T>G
|
rs886057830
|
|
NM_001023570.4(IQCB1):c.-185C>G
|
rs553719849
|
|
NM_001023570.4(IQCB1):c.1135G>A (p.Val379Met)
|
rs886057825
|
|
NM_001023570.4(IQCB1):c.1278+7C>T
|
rs112780863
|
|
NM_001023570.4(IQCB1):c.1544G>T (p.Ser515Ile)
|
rs886057823
|
|
NM_001023570.4(IQCB1):c.1595G>A (p.Gly532Glu)
|
rs200719828
|
|
NM_001023570.4(IQCB1):c.169G>T (p.Asp57Tyr)
|
rs1950530790
|
|
NM_001023570.4(IQCB1):c.1739A>C (p.Lys580Thr)
|
rs199775360
|
|
NM_001023570.4(IQCB1):c.358A>T (p.Arg120Ter)
|
rs1372460709
|
|
NM_001023570.4(IQCB1):c.424_425del (p.Phe142fs)
|
rs750962965
|
|
NM_001023570.4(IQCB1):c.488-13dup
|
rs753164790
|
|
NM_001023570.4(IQCB1):c.722A>G (p.His241Arg)
|
rs886057827
|
|
NM_001023570.4(IQCB1):c.791A>C (p.Gln264Pro)
|
rs1949231887
|
|
NM_001044385.2(TMEM237):c.-126G>A
|
rs572770188
|
|
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.*3513del
|
rs143218667
|
|
NM_001044385.3(TMEM237):c.*4020T>A
|
rs886055435
|
|
NM_001044385.3(TMEM237):c.*470_*473del
|
rs886055445
|
|
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.1115C>G (p.Ser372Cys)
|
rs886055447
|
|
NM_001044385.3(TMEM237):c.157C>T (p.Leu53Phe)
|
rs1687306098
|
|
NM_001044385.3(TMEM237):c.546A>G (p.Glu182=)
|
rs1957812548
|
|
NM_001044385.3(TMEM237):c.870-13_870-12del
|
rs555284377
|
|
NM_001082538.3(TCTN1):c.1170T>A (p.Ala390=)
|
rs903743304
|
|
NM_001082538.3(TCTN1):c.1418del (p.Pro473fs)
|
rs757348545
|
|
NM_001082538.3(TCTN1):c.1685T>C (p.Phe562Ser)
|
rs1277761197
|
|
NM_001082538.3(TCTN1):c.364C>A (p.Gln122Lys)
|
rs886048958
|
|
NM_001082538.3(TCTN1):c.473-6_473-4del
|
rs10577377
|
|
NM_001082538.3(TCTN1):c.794C>G (p.Ala265Gly)
|
rs1457836773
|
|
NM_001082538.3(TCTN1):c.802A>G (p.Ser268Gly)
|
rs771495390
|
|
NM_001128178.3(NPHP1):c.*199A>G
|
rs1679131109
|
|
NM_001128178.3(NPHP1):c.*333AAC[1]
|
rs555468187
|
|
NM_001128178.3(NPHP1):c.1165C>T (p.Arg389Cys)
|
rs375907280
|
|
NM_001128178.3(NPHP1):c.1279G>C (p.Glu427Gln)
|
rs886054753
|
|
NM_001128178.3(NPHP1):c.137A>G (p.Tyr46Cys)
|
rs1212780955
|
|
NM_001128178.3(NPHP1):c.1522G>C (p.Val508Leu)
|
rs573192954
|
|
NM_001128178.3(NPHP1):c.1534C>T (p.Leu512=)
|
rs1679799639
|
|
NM_001128178.3(NPHP1):c.1717-5T>G
|
rs1679303713
|
|
NM_001128178.3(NPHP1):c.1804C>G (p.His602Asp)
|
rs538690900
|
|
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.593A>G (p.Asn198Ser)
|
rs886054756
|
|
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.771+148G>T
|
rs753796140
|
|
NM_001128178.3(NPHP1):c.771+178C>T
|
rs767903893
|
|
NM_001128178.3(NPHP1):c.772-5T>C
|
rs201478764
|
|
NM_001128178.3(NPHP1):c.820G>C (p.Gly274Arg)
|
rs886054754
|
|
NM_001134831.2(AHI1):c.*1051ATTT[1]
|
rs144339517
|
|
NM_001134831.2(AHI1):c.*110G>A
|
rs370861733
|
|
NM_001134831.2(AHI1):c.*1116TAT[1]
|
rs886061104
|
|
NM_001134831.2(AHI1):c.*1317A>G
|
rs886061102
|
|
NM_001134831.2(AHI1):c.*1568A>T
|
rs969919726
|
|
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.*500_*504del
|
rs886061105
|
|
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.1052G>A (p.Arg351Gln)
|
rs397514726
|
|
NM_001134831.2(AHI1):c.108del (p.Lys36fs)
|
rs1562294047
|
|
NM_001134831.2(AHI1):c.1304G>A (p.Arg435Gln)
|
rs545841352
|
|
NM_001134831.2(AHI1):c.1311T>G (p.Ser437=)
|
rs886061112
|
|
NM_001134831.2(AHI1):c.1627-6A>G
|
rs886061111
|
|
NM_001134831.2(AHI1):c.1780-3T>C
|
rs1786509189
|
|
NM_001134831.2(AHI1):c.1904C>T (p.Pro635Leu)
|
rs371531507
|
|
NM_001134831.2(AHI1):c.1912+15T>G
|
rs1786478454
|
|
NM_001134831.2(AHI1):c.1948T>C (p.Leu650=)
|
rs1785751637
|
|
NM_001134831.2(AHI1):c.2357A>G (p.His786Arg)
|
rs886061110
|
|
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.2567C>G (p.Thr856Ser)
|
rs199736888
|
|
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.3109+14T>A
|
rs1778988078
|
|
NM_001134831.2(AHI1):c.3223G>C (p.Gly1075Arg)
|
rs750115460
|
|
NM_001134831.2(AHI1):c.3486-4A>G
|
rs534053819
|
|
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.96dup (p.Leu33fs)
|
rs747322175
|
|
NM_001142301.1(TMEM67):c.-207del
|
rs145334032
|
|
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.-24C>G
|
rs59493015
|
|
NM_001173990.3(TMEM216):c.-24C>T
|
rs59493015
|
|
NM_001173990.3(TMEM216):c.230-9G>A
|
rs886048412
|
|
NM_001173990.3(TMEM216):c.253C>A (p.Arg85=)
|
rs11230683
|
|
NM_001173990.3(TMEM216):c.432-1G>C
|
rs10897158
|
|
NM_001173990.3(TMEM216):c.5T>C (p.Leu2Pro)
|
rs569734777
|
|
NM_001174150.2(ARL13B):c.*1818ATATA[1]
|
rs752990716
|
|
NM_001174150.2(ARL13B):c.830dup (p.Asn277fs)
|
rs752472169
|
|
NM_001199397.3(NEK1):c.*354A>T
|
rs1730320778
|
|
NM_001199397.3(NEK1):c.*758T>A
|
rs1730272463
|
|
NM_001199397.3(NEK1):c.-128C>T
|
rs1484285578
|
|
NM_001199397.3(NEK1):c.-275A>G
|
rs546452146
|
|
NM_001199397.3(NEK1):c.1233T>C (p.Asn411=)
|
rs886059234
|
|
NM_001199397.3(NEK1):c.1451G>A (p.Arg484His)
|
rs201793759
|
|
NM_001199397.3(NEK1):c.1476A>C (p.Ala492=)
|
rs1322917520
|
|
NM_001199397.3(NEK1):c.1847A>G (p.His616Arg)
|
rs886059233
|
|
NM_001199397.3(NEK1):c.1961A>T (p.Lys654Met)
|
rs767789905
|
|
NM_001199397.3(NEK1):c.2096G>A (p.Arg699Lys)
|
rs558787593
|
|
NM_001199397.3(NEK1):c.2161C>T (p.Arg721Trp)
|
rs201726561
|
|
NM_001199397.3(NEK1):c.2282_2283del (p.Leu760_Ser761insTer)
|
rs750159428
|
|
NM_001199397.3(NEK1):c.238A>G (p.Met80Val)
|
rs1770058884
|
|
NM_001199397.3(NEK1):c.2435-4A>G
|
rs886059230
|
|
NM_001199397.3(NEK1):c.2974+11T>C
|
rs886059229
|
|
NM_001199397.3(NEK1):c.3141G>A (p.Ser1047=)
|
rs190807750
|
|
NM_001199397.3(NEK1):c.3222+15C>A
|
rs1246103461
|
|
NM_001199397.3(NEK1):c.3289G>A (p.Val1097Ile)
|
rs374890006
|
|
NM_001199397.3(NEK1):c.3374+14C>T
|
rs886059226
|
|
NM_001199397.3(NEK1):c.3451G>A (p.Glu1151Lys)
|
rs1064796596
|
|
NM_001199397.3(NEK1):c.671C>T (p.Ser224Phe)
|
rs886059235
|
|
NM_001199397.3(NEK1):c.901T>C (p.Ser301Pro)
|
rs777255986
|
|
NM_001243156.2(TAF1C):c.*1055_*1058del
|
rs771825223
|
|
NM_001256715.2(DNAAF3):c.1585del (p.Ala529fs)
|
rs1371933770
|
|
NM_001258400.2(FAM187A):c.-192G>A
|
rs886053017
|
|
NM_001258400.2(FAM187A):c.-224C>A
|
rs144369192
|
|
NM_001258400.2(FAM187A):c.-224C>T
|
rs144369192
|
|
NM_001258400.2(FAM187A):c.-226C>T
|
rs886053015
|
|
NM_001277115.2(DNAH11):c.10523A>G (p.Asn3508Ser)
|
rs1562563761
|
|
NM_001277115.2(DNAH11):c.10573T>C (p.Leu3525=)
|
rs886062182
|
|
NM_001277115.2(DNAH11):c.10701G>T (p.Arg3567Ser)
|
rs375965591
|
|
NM_001277115.2(DNAH11):c.10750C>T (p.His3584Tyr)
|
rs886062183
|
|
NM_001277115.2(DNAH11):c.10773C>G (p.His3591Gln)
|
|
|
NM_001277115.2(DNAH11):c.11202+7C>A
|
rs73279826
|
|
NM_001277115.2(DNAH11):c.11203-9A>G
|
rs1783074282
|
|
NM_001277115.2(DNAH11):c.11220C>G (p.Phe3740Leu)
|
rs886062184
|
|
NM_001277115.2(DNAH11):c.11483G>T (p.Trp3828Leu)
|
rs1783201954
|
|
NM_001277115.2(DNAH11):c.11508C>G (p.Val3836=)
|
rs199627577
|
|
NM_001277115.2(DNAH11):c.11534G>A (p.Arg3845Gln)
|
rs371438607
|
|
NM_001277115.2(DNAH11):c.11725G>A (p.Val3909Met)
|
rs886062185
|
|
NM_001277115.2(DNAH11):c.11786T>C (p.Ile3929Thr)
|
rs886062186
|
|
NM_001277115.2(DNAH11):c.12336C>G (p.Asp4112Glu)
|
rs779489580
|
|
NM_001277115.2(DNAH11):c.1233A>G (p.Gly411=)
|
rs886062172
|
|
NM_001277115.2(DNAH11):c.12375G>C (p.Glu4125Asp)
|
rs886062187
|
|
NM_001277115.2(DNAH11):c.12388-4A>G
|
rs758561213
|
|
NM_001277115.2(DNAH11):c.12505C>T (p.Leu4169=)
|
rs764262245
|
|
NM_001277115.2(DNAH11):c.12509C>G (p.Thr4170Ser)
|
rs12537531
|
|
NM_001277115.2(DNAH11):c.12509C>T (p.Thr4170Ile)
|
rs12537531
|
|
NM_001277115.2(DNAH11):c.12549A>C (p.Pro4183=)
|
rs886062188
|
|
NM_001277115.2(DNAH11):c.12933+1G>A
|
rs371022970
|
|
NM_001277115.2(DNAH11):c.13128C>A (p.Leu4376=)
|
rs56333627
|
|
NM_001277115.2(DNAH11):c.13176G>A (p.Thr4392=)
|
rs79449551
|
|
NM_001277115.2(DNAH11):c.13303G>T (p.Gly4435Cys)
|
rs1044815255
|
|
NM_001277115.2(DNAH11):c.13536_13548dup (p.Ter4517AlaextTer?)
|
rs764221599
|
|
NM_001277115.2(DNAH11):c.1535T>C (p.Met512Thr)
|
rs72655984
|
|
NM_001277115.2(DNAH11):c.180C>T (p.Arg60=)
|
rs781089233
|
|
NM_001277115.2(DNAH11):c.1978T>C (p.Leu660=)
|
rs771896570
|
|
NM_001277115.2(DNAH11):c.2169+6G>T
|
rs761214072
|
|
NM_001277115.2(DNAH11):c.2237C>T (p.Ala746Val)
|
rs934985831
|
|
NM_001277115.2(DNAH11):c.2388G>A (p.Leu796=)
|
rs771017427
|
|
NM_001277115.2(DNAH11):c.2412A>G (p.Thr804=)
|
rs564401238
|
|
NM_001277115.2(DNAH11):c.2658C>G (p.Asn886Lys)
|
rs886062173
|
|
NM_001277115.2(DNAH11):c.2932T>C (p.Cys978Arg)
|
rs886062174
|
|
NM_001277115.2(DNAH11):c.3808C>G (p.Pro1270Ala)
|
rs886062175
|
|
NM_001277115.2(DNAH11):c.395A>G (p.Lys132Arg)
|
rs374076948
|
|
NM_001277115.2(DNAH11):c.447A>G (p.Gly149=)
|
rs886062170
|
|
NM_001277115.2(DNAH11):c.480T>G (p.Ser160=)
|
rs1013003178
|
|
NM_001277115.2(DNAH11):c.4825C>T (p.Leu1609Phe)
|
rs886062177
|
|
NM_001277115.2(DNAH11):c.496-10C>G
|
rs1783322493
|
|
NM_001277115.2(DNAH11):c.5157A>G (p.Thr1719=)
|
rs149538783
|
|
NM_001277115.2(DNAH11):c.5186C>A (p.Pro1729His)
|
rs778885238
|
|
NM_001277115.2(DNAH11):c.5327A>T (p.Gln1776Leu)
|
rs886062178
|
|
NM_001277115.2(DNAH11):c.5594G>T (p.Arg1865Leu)
|
rs749869317
|
|
NM_001277115.2(DNAH11):c.5984T>C (p.Met1995Thr)
|
rs1465555535
|
|
NM_001277115.2(DNAH11):c.6273+9A>G
|
rs192777767
|
|
NM_001277115.2(DNAH11):c.6594G>A (p.Pro2198=)
|
rs200894470
|
|
NM_001277115.2(DNAH11):c.6664C>T (p.Arg2222Ter)
|
rs773498002
|
|
NM_001277115.2(DNAH11):c.6897G>C (p.Glu2299Asp)
|
rs886062180
|
|
NM_001277115.2(DNAH11):c.693-14C>G
|
rs574585676
|
|
NM_001277115.2(DNAH11):c.6999G>T (p.Trp2333Cys)
|
rs1189902593
|
|
NM_001277115.2(DNAH11):c.7068A>C (p.Ala2356=)
|
rs773805632
|
|
NM_001277115.2(DNAH11):c.7135-14T>G
|
rs1784841830
|
|
NM_001277115.2(DNAH11):c.7626G>A (p.Thr2542=)
|
rs2072221
|
|
NM_001277115.2(DNAH11):c.7626G>T (p.Thr2542=)
|
rs2072221
|
|
NM_001277115.2(DNAH11):c.8023A>G (p.Ile2675Val)
|
rs72657364
|
|
NM_001277115.2(DNAH11):c.8511-15G>A
|
rs111471486
|
|
NM_001277115.2(DNAH11):c.8797+12A>C
|
rs372924996
|
|
NM_001277115.2(DNAH11):c.9013T>C (p.Cys3005Arg)
|
rs369196786
|
|
NM_001277115.2(DNAH11):c.9209C>G (p.Thr3070Ser)
|
rs527922611
|
|
NM_001277115.2(DNAH11):c.9312A>G (p.Gln3104=)
|
rs886062181
|
|
NM_001277115.2(DNAH11):c.9561G>A (p.Leu3187=)
|
rs6965750
|
|
NM_001277115.2(DNAH11):c.9627C>T (p.Pro3209=)
|
rs200256329
|
|
NM_001278293.3(ARL6):c.*275G>A
|
rs886058939
|
|
NM_001278293.3(ARL6):c.-27-1461A>T
|
rs143739859
|
|
NM_001278293.3(ARL6):c.266C>A (p.Ala89Asp)
|
rs587777805
|
|
NM_001278293.3(ARL6):c.341A>G (p.Asn114Ser)
|
rs2037385151
|
|
NM_001278293.3(ARL6):c.365G>C (p.Arg122Pro)
|
rs142258123
|
|
NM_001278293.3(ARL6):c.526T>C (p.Trp176Arg)
|
rs886058938
|
|
NM_001369.3(DNAH5):c.*1119T>C
|
rs148467464
|
|
NM_001369.3(DNAH5):c.*1342T>G
|
rs886059931
|
|
NM_001369.3(DNAH5):c.*291G>A
|
rs771015963
|
|
NM_001369.3(DNAH5):c.*355G>A
|
rs778207515
|
|
NM_001369.3(DNAH5):c.*563G>A
|
rs189538534
|
|
NM_001369.3(DNAH5):c.*802A>G
|
rs886059932
|
|
NM_001369.3(DNAH5):c.*92G>A
|
rs886059933
|
|
NM_001369.3(DNAH5):c.-8C>A
|
rs199528866
|
|
NM_001369.3(DNAH5):c.-8C>T
|
rs199528866
|
|
NM_001369.3(DNAH5):c.1035G>A (p.Val345=)
|
rs150335023
|
|
NM_001369.3(DNAH5):c.10442G>A (p.Arg3481Gln)
|
rs202169624
|
|
NM_001369.3(DNAH5):c.10470C>T (p.Ser3490=)
|
rs1750680564
|
|
NM_001369.3(DNAH5):c.10556-15T>C
|
rs754992743
|
|
NM_001369.3(DNAH5):c.10731C>A (p.Asn3577Lys)
|
rs376292253
|
|
NM_001369.3(DNAH5):c.1090-6T>C
|
rs886060015
|
|
NM_001369.3(DNAH5):c.1090-8T>C
|
rs16902950
|
|
NM_001369.3(DNAH5):c.10974A>G (p.Pro3658=)
|
rs774653078
|
|
NM_001369.3(DNAH5):c.10983T>A (p.Asp3661Glu)
|
rs886059971
|
|
NM_001369.3(DNAH5):c.11016G>T (p.Gly3672=)
|
rs1580060938
|
|
NM_001369.3(DNAH5):c.11614A>T (p.Ile3872Phe)
|
rs572139897
|
|
NM_001369.3(DNAH5):c.11986C>T (p.Arg3996Cys)
|
rs886059970
|
|
NM_001369.3(DNAH5):c.12033+7A>G
|
rs77541151
|
|
NM_001369.3(DNAH5):c.12500-3C>T
|
rs1311123080
|
|
NM_001369.3(DNAH5):c.12513C>A (p.Asp4171Glu)
|
rs547445590
|
|
NM_001369.3(DNAH5):c.12586C>G (p.Gln4196Glu)
|
rs886059965
|
|
NM_001369.3(DNAH5):c.12997C>A (p.Leu4333Met)
|
rs1217758791
|
|
NM_001369.3(DNAH5):c.13114G>A (p.Val4372Ile)
|
rs1744009916
|
|
NM_001369.3(DNAH5):c.13364G>A (p.Gly4455Asp)
|
rs370684795
|
|
NM_001369.3(DNAH5):c.1341C>T (p.His447=)
|
rs886060014
|
|
NM_001369.3(DNAH5):c.13458dup (p.Asn4487Ter)
|
rs775696136
|
|
NM_001369.3(DNAH5):c.13481C>T (p.Ala4494Val)
|
rs756228394
|
|
NM_001369.3(DNAH5):c.13491+8C>T
|
rs1742074967
|
|
NM_001369.3(DNAH5):c.13569C>A (p.Asp4523Glu)
|
rs151080414
|
|
NM_001369.3(DNAH5):c.13734T>C (p.Asp4578=)
|
rs1740774348
|
|
NM_001369.3(DNAH5):c.13747T>C (p.Ser4583Pro)
|
rs770287375
|
|
NM_001369.3(DNAH5):c.13817C>A (p.Ala4606Asp)
|
rs770244453
|
|
NM_001369.3(DNAH5):c.13825C>A (p.Pro4609Thr)
|
rs886059934
|
|
NM_001369.3(DNAH5):c.1475C>A (p.Thr492Lys)
|
rs189145014
|
|
NM_001369.3(DNAH5):c.1475C>T (p.Thr492Met)
|
rs189145014
|
|
NM_001369.3(DNAH5):c.1578A>G (p.Leu526=)
|
rs1775984639
|
|
NM_001369.3(DNAH5):c.2126A>G (p.Asn709Ser)
|
rs1774434030
|
|
NM_001369.3(DNAH5):c.2578-5del
|
rs752460183
|
|
NM_001369.3(DNAH5):c.2578-8_2578-6del
|
rs886060011
|
|
NM_001369.3(DNAH5):c.2578-9_2578-7del
|
rs71600031
|
|
NM_001369.3(DNAH5):c.2594G>T (p.Gly865Val)
|
rs886060008
|
|
NM_001369.3(DNAH5):c.2719G>A (p.Val907Ile)
|
rs1772373275
|
|
NM_001369.3(DNAH5):c.2743+12G>A
|
rs1380292180
|
|
NM_001369.3(DNAH5):c.283C>G (p.Leu95Val)
|
rs757542755
|
|
NM_001369.3(DNAH5):c.294A>T (p.Leu98=)
|
rs1458038548
|
|
NM_001369.3(DNAH5):c.3175A>G (p.Lys1059Glu)
|
rs1771856279
|
|
NM_001369.3(DNAH5):c.3304C>A (p.Gln1102Lys)
|
rs774143246
|
|
NM_001369.3(DNAH5):c.3835-3del
|
rs35398031
|
|
NM_001369.3(DNAH5):c.4171C>A (p.Leu1391Ile)
|
rs1000047685
|
|
NM_001369.3(DNAH5):c.4341A>T (p.Leu1447Phe)
|
rs1769139958
|
|
NM_001369.3(DNAH5):c.4474A>G (p.Met1492Val)
|
rs1768940067
|
|
NM_001369.3(DNAH5):c.4498A>G (p.Thr1500Ala)
|
rs886059989
|
|
NM_001369.3(DNAH5):c.4707A>G (p.Gly1569=)
|
rs886059985
|
|
NM_001369.3(DNAH5):c.4807C>A (p.Pro1603Thr)
|
rs369137751
|
|
NM_001369.3(DNAH5):c.5022T>A (p.Ser1674Arg)
|
rs758627759
|
|
NM_001369.3(DNAH5):c.5272-13dup
|
rs886059980
|
|
NM_001369.3(DNAH5):c.5272-15del
|
rs35337694
|
|
NM_001369.3(DNAH5):c.5272-15dup
|
rs35337694
|
|
NM_001369.3(DNAH5):c.5272-17_5272-15dup
|
rs35337694
|
|
NM_001369.3(DNAH5):c.5272-8dup
|
rs886059979
|
|
NM_001369.3(DNAH5):c.5272-9C>T
|
rs555481241
|
|
NM_001369.3(DNAH5):c.536C>A (p.Thr179Lys)
|
rs747116308
|
|
NM_001369.3(DNAH5):c.5538T>G (p.Leu1846=)
|
rs886059978
|
|
NM_001369.3(DNAH5):c.5608T>C (p.Leu1870=)
|
rs763656985
|
|
NM_001369.3(DNAH5):c.57_57+1delinsAA
|
rs1560984816
|
|
NM_001369.3(DNAH5):c.5821A>G (p.Ile1941Val)
|
rs754033261
|
|
NM_001369.3(DNAH5):c.5880C>T (p.Asp1960=)
|
rs1764848840
|
|
NM_001369.3(DNAH5):c.6070C>A (p.Gln2024Lys)
|
rs989184330
|
|
NM_001369.3(DNAH5):c.6454G>A (p.Asp2152Asn)
|
rs886059975
|
|
NM_001369.3(DNAH5):c.661-8C>T
|
rs1227311322
|
|
NM_001369.3(DNAH5):c.6705A>T (p.Leu2235Phe)
|
rs765945557
|
|
NM_001369.3(DNAH5):c.7206C>A (p.Ile2402=)
|
rs747529694
|
|
NM_001369.3(DNAH5):c.7212T>C (p.Asp2404=)
|
rs876657454
|
|
NM_001369.3(DNAH5):c.7390G>A (p.Gly2464Ser)
|
rs112103817
|
|
NM_001369.3(DNAH5):c.7449G>A (p.Leu2483=)
|
rs886059974
|
|
NM_001369.3(DNAH5):c.7525C>T (p.Arg2509Cys)
|
rs531393117
|
|
NM_001369.3(DNAH5):c.765T>C (p.Asp255=)
|
rs767772613
|
|
NM_001369.3(DNAH5):c.777A>G (p.Val259=)
|
rs1580893242
|
|
NM_001369.3(DNAH5):c.7786A>C (p.Lys2596Gln)
|
rs1759848562
|
|
NM_001369.3(DNAH5):c.7825C>A (p.Pro2609Thr)
|
rs886059973
|
|
NM_001369.3(DNAH5):c.7923T>G (p.Gly2641=)
|
rs748304927
|
|
NM_001369.3(DNAH5):c.8036T>A (p.Leu2679Gln)
|
rs1424415934
|
|
NM_001369.3(DNAH5):c.8217G>C (p.Lys2739Asn)
|
rs375287005
|
|
NM_001369.3(DNAH5):c.8821-14G>A
|
rs769508388
|
|
NM_001369.3(DNAH5):c.8982T>G (p.Asp2994Glu)
|
rs773014523
|
|
NM_001369.3(DNAH5):c.9230G>T (p.Arg3077Leu)
|
rs113742238
|
|
NM_001369.3(DNAH5):c.9552C>A (p.Gly3184=)
|
rs149749266
|
|
NM_001369.3(DNAH5):c.9573A>G (p.Glu3191=)
|
rs373510512
|
|
NM_001369.3(DNAH5):c.9739A>G (p.Met3247Val)
|
rs780887847
|
|
NM_001369.3(DNAH5):c.9850C>A (p.Leu3284Met)
|
rs1752912351
|
|
NM_001369.3(DNAH5):c.9912G>A (p.Ser3304=)
|
rs188218914
|
|
NM_001369.3(DNAH5):c.9955A>G (p.Ile3319Val)
|
rs1752483044
|
|
NM_001377.3(DYNC2H1):c.*52A>T
|
rs1945671200
|
|
NM_001377.3(DYNC2H1):c.-148T>C
|
rs1858000065
|
|
NM_001377.3(DYNC2H1):c.10021A>C (p.Arg3341=)
|
rs886047573
|
|
NM_001377.3(DYNC2H1):c.10152T>G (p.Ala3384=)
|
rs886047574
|
|
NM_001377.3(DYNC2H1):c.10164T>G (p.Thr3388=)
|
rs11225634
|
|
NM_001377.3(DYNC2H1):c.10230T>C (p.His3410=)
|
rs1279419542
|
|
NM_001377.3(DYNC2H1):c.10326+6A>G
|
rs750262824
|
|
NM_001377.3(DYNC2H1):c.10466G>T (p.Arg3489Leu)
|
rs755858936
|
|
NM_001377.3(DYNC2H1):c.10975C>G (p.Gln3659Glu)
|
rs200340319
|
|
NM_001377.3(DYNC2H1):c.12416A>G (p.Gln4139Arg)
|
rs1793493
|
|
NM_001377.3(DYNC2H1):c.12648+5T>C
|
rs754669196
|
|
NM_001377.3(DYNC2H1):c.12704A>G (p.Asn4235Ser)
|
rs886047581
|
|
NM_001377.3(DYNC2H1):c.12766-7dup
|
rs747006567
|
|
NM_001377.3(DYNC2H1):c.12766G>C (p.Asp4256His)
|
rs772516163
|
|
NM_001377.3(DYNC2H1):c.1484A>G (p.Lys495Arg)
|
rs202233363
|
|
NM_001377.3(DYNC2H1):c.196-13T>C
|
rs765533229
|
|
NM_001377.3(DYNC2H1):c.2106+5A>G
|
rs886047560
|
|
NM_001377.3(DYNC2H1):c.2533G>A (p.Asp845Asn)
|
rs879676957
|
|
NM_001377.3(DYNC2H1):c.2669A>T (p.Lys890Ile)
|
rs1860062786
|
|
NM_001377.3(DYNC2H1):c.266A>G (p.Glu89Gly)
|
rs886047558
|
|
NM_001377.3(DYNC2H1):c.282C>A (p.Asn94Lys)
|
rs1858224158
|
|
NM_001377.3(DYNC2H1):c.3046G>C (p.Asp1016His)
|
rs867893518
|
|
NM_001377.3(DYNC2H1):c.3573+5G>T
|
rs886047561
|
|
NM_001377.3(DYNC2H1):c.3662G>C (p.Arg1221Thr)
|
rs12794914
|
|
NM_001377.3(DYNC2H1):c.3685C>G (p.Leu1229Val)
|
rs1860772300
|
|
NM_001377.3(DYNC2H1):c.3794G>A (p.Arg1265His)
|
rs200635842
|
|
NM_001377.3(DYNC2H1):c.4497G>T (p.Trp1499Cys)
|
rs886047563
|
|
NM_001377.3(DYNC2H1):c.4808T>G (p.Ile1603Ser)
|
rs541231234
|
|
NM_001377.3(DYNC2H1):c.5913G>C (p.Gln1971His)
|
rs375160131
|
|
NM_001377.3(DYNC2H1):c.6931A>G (p.Thr2311Ala)
|
rs760509494
|
|
NM_001377.3(DYNC2H1):c.7032T>A (p.Arg2344=)
|
rs760382908
|
|
NM_001377.3(DYNC2H1):c.7085A>G (p.Asn2362Ser)
|
rs1862122773
|
|
NM_001377.3(DYNC2H1):c.7293-13C>G
|
rs372796223
|
|
NM_001377.3(DYNC2H1):c.7452T>G (p.Phe2484Leu)
|
rs1862311130
|
|
NM_001377.3(DYNC2H1):c.7540+14G>A
|
rs115273161
|
|
NM_001377.3(DYNC2H1):c.7540+14G>T
|
rs115273161
|
|
NM_001377.3(DYNC2H1):c.7625C>T (p.Ala2542Val)
|
rs1862343744
|
|
NM_001377.3(DYNC2H1):c.7837A>G (p.Lys2613Glu)
|
rs1862571427
|
|
NM_001377.3(DYNC2H1):c.7840-6dup
|
rs886047567
|
|
NM_001377.3(DYNC2H1):c.8149T>C (p.Phe2717Leu)
|
rs1862657961
|
|
NM_001377.3(DYNC2H1):c.8236C>A (p.Pro2746Thr)
|
rs1862808181
|
|
NM_001377.3(DYNC2H1):c.8351C>T (p.Ser2784Phe)
|
rs886047568
|
|
NM_001377.3(DYNC2H1):c.8504A>T (p.Asp2835Val)
|
rs540042560
|
|
NM_001377.3(DYNC2H1):c.9122G>A (p.Arg3041Lys)
|
rs886047570
|
|
NM_001377.3(DYNC2H1):c.9846T>C (p.Asp3282=)
|
rs886047572
|
|
NM_001377.3(DYNC2H1):c.9968C>G (p.Thr3323Ser)
|
rs1297244083
|
|
NM_001378454.1(ALMS1):c.10180A>G (p.Lys3394Glu)
|
rs886056316
|
|
NM_001378454.1(ALMS1):c.10297A>G (p.Thr3433Ala)
|
rs750493624
|
|
NM_001378454.1(ALMS1):c.10826A>G (p.Gln3609Arg)
|
rs886056317
|
|
NM_001378454.1(ALMS1):c.11605A>T (p.Ser3869Cys)
|
rs886056318
|
|
NM_001378454.1(ALMS1):c.11887G>T (p.Val3963Phe)
|
rs886056319
|
|
NM_001378454.1(ALMS1):c.11998C>T (p.Pro4000Ser)
|
rs767061718
|
|
NM_001378454.1(ALMS1):c.1264G>A (p.Asp422Asn)
|
rs886056297
|
|
NM_001378454.1(ALMS1):c.1326A>G (p.Glu442=)
|
rs886056298
|
|
NM_001378454.1(ALMS1):c.1340C>G (p.Pro447Arg)
|
rs886056299
|
|
NM_001378454.1(ALMS1):c.1704A>C (p.Pro568=)
|
rs886056300
|
|
NM_001378454.1(ALMS1):c.2116A>G (p.Thr706Ala)
|
rs886056301
|
|
NM_001378454.1(ALMS1):c.2724C>T (p.Tyr908=)
|
rs573325092
|
|
NM_001378454.1(ALMS1):c.3406A>G (p.Thr1136Ala)
|
rs886056302
|
|
NM_001378454.1(ALMS1):c.36GGA[12] (p.Glu28del)
|
rs55889738
|
|
NM_001378454.1(ALMS1):c.36GGA[15] (p.Glu27_Glu28dup)
|
rs55889738
|
|
NM_001378454.1(ALMS1):c.36GGA[16] (p.Glu26_Glu28dup)
|
rs55889738
|
|
NM_001378454.1(ALMS1):c.36GGA[17] (p.Glu25_Glu28dup)
|
rs55889738
|
|
NM_001378454.1(ALMS1):c.4238G>C (p.Gly1413Ala)
|
rs886038612
|
|
NM_001378454.1(ALMS1):c.5457G>A (p.Glu1819=)
|
rs886038613
|
|
NM_001378454.1(ALMS1):c.5559G>A (p.Gln1853=)
|
rs886056303
|
|
NM_001378454.1(ALMS1):c.5620A>G (p.Lys1874Glu)
|
rs886038614
|
|
NM_001378454.1(ALMS1):c.5780G>A (p.Gly1927Asp)
|
rs886056304
|
|
NM_001378454.1(ALMS1):c.5931G>C (p.Lys1977Asn)
|
rs886056305
|
|
NM_001378454.1(ALMS1):c.6014A>G (p.Asp2005Gly)
|
rs886056306
|
|
NM_001378454.1(ALMS1):c.6070A>G (p.Lys2024Glu)
|
rs886056307
|
|
NM_001378454.1(ALMS1):c.6139T>A (p.Ser2047Thr)
|
rs886056308
|
|
NM_001378454.1(ALMS1):c.668C>A (p.Ser223Tyr)
|
rs886038615
|
|
NM_001378454.1(ALMS1):c.6847C>T (p.Leu2283Phe)
|
rs886056309
|
|
NM_001378454.1(ALMS1):c.7262A>G (p.Asp2421Gly)
|
rs886056310
|
|
NM_001378454.1(ALMS1):c.7325T>A (p.Val2442Asp)
|
rs886056311
|
|
NM_001378454.1(ALMS1):c.8439A>G (p.Glu2813=)
|
rs886038617
|
|
NM_001378454.1(ALMS1):c.8479A>C (p.Arg2827=)
|
rs886056312
|
|
NM_001378454.1(ALMS1):c.8816A>G (p.Asp2939Gly)
|
rs886056313
|
|
NM_001378454.1(ALMS1):c.9078T>C (p.Asn3026=)
|
rs886056314
|
|
NM_001378454.1(ALMS1):c.9224C>T (p.Ser3075Phe)
|
rs886056315
|
|
NM_001378454.1(ALMS1):c.9538C>A (p.Arg3180=)
|
rs563393715
|
|
NM_001378615.1(CC2D2A):c.-178T>C
|
rs886059135
|
|
NM_001378615.1(CC2D2A):c.1401A>C (p.Pro467=)
|
rs886059136
|
|
NM_001378615.1(CC2D2A):c.1713G>A (p.Met571Ile)
|
rs886059137
|
|
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.2339-10_2339-9del
|
rs886059157
|
|
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.2734A>G (p.Arg912Gly)
|
rs574421639
|
|
NM_001378615.1(CC2D2A):c.3333T>C (p.Val1111=)
|
rs753770061
|
|
NM_001378615.1(CC2D2A):c.3365C>G (p.Pro1122Arg)
|
rs886059182
|
|
NM_001378615.1(CC2D2A):c.3398+13T>C
|
rs886059183
|
|
NM_001378615.1(CC2D2A):c.3499G>A (p.Asp1167Asn)
|
rs371998498
|
|
NM_001378615.1(CC2D2A):c.389G>T (p.Arg130Leu)
|
rs778519147
|
|
NM_001378615.1(CC2D2A):c.4098A>C (p.Glu1366Asp)
|
rs557038070
|
|
NM_001378615.1(CC2D2A):c.4442A>C (p.Glu1481Ala)
|
rs886059185
|
|
NM_001378615.1(CC2D2A):c.451G>T (p.Val151Leu)
|
rs1485264498
|
|
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.676GAA[3] (p.Glu229del)
|
rs386833764
|
|
NM_001378615.1(CC2D2A):c.762A>G (p.Leu254=)
|
rs116198081
|
|
NM_001384732.1(CPLANE1):c.*40C>T
|
rs1757860413
|
|
NM_001384732.1(CPLANE1):c.*423C>G
|
rs190089842
|
|
NM_001384732.1(CPLANE1):c.*441A>C
|
rs7712558
|
|
NM_001384732.1(CPLANE1):c.*661T>G
|
rs886060569
|
|
NM_001384732.1(CPLANE1):c.-77C>T
|
rs910545554
|
|
NM_001384732.1(CPLANE1):c.1347A>G (p.Ile449Met)
|
rs1796727512
|
|
NM_001384732.1(CPLANE1):c.1554A>T (p.Arg518Ser)
|
rs886060583
|
|
NM_001384732.1(CPLANE1):c.190G>T (p.Val64Phe)
|
rs965197100
|
|
NM_001384732.1(CPLANE1):c.2291+8C>T
|
rs1454521743
|
|
NM_001384732.1(CPLANE1):c.2558C>A (p.Ala853Asp)
|
rs886060580
|
|
NM_001384732.1(CPLANE1):c.4190-10_4190-9del
|
rs111508546
|
|
NM_001384732.1(CPLANE1):c.4362del (p.Thr1455fs)
|
rs1561531833
|
|
NM_001384732.1(CPLANE1):c.4379G>C (p.Ser1460Thr)
|
rs886060579
|
|
NM_001384732.1(CPLANE1):c.4481+4C>G
|
rs769785905
|
|
NM_001384732.1(CPLANE1):c.4986A>C (p.Gln1662His)
|
rs547409263
|
|
NM_001384732.1(CPLANE1):c.5054T>C (p.Ile1685Thr)
|
rs750439635
|
|
NM_001384732.1(CPLANE1):c.5150G>A (p.Cys1717Tyr)
|
rs765017990
|
|
NM_001384732.1(CPLANE1):c.523A>G (p.Thr175Ala)
|
rs886060586
|
|
NM_001384732.1(CPLANE1):c.5413_5417del (p.Ala1804_Ile1805insTer)
|
rs1202341886
|
|
NM_001384732.1(CPLANE1):c.5447G>C (p.Cys1816Ser)
|
rs138639220
|
|
NM_001384732.1(CPLANE1):c.5783C>G (p.Ala1928Gly)
|
rs190242054
|
|
NM_001384732.1(CPLANE1):c.6062C>G (p.Pro2021Arg)
|
rs928348123
|
|
NM_001384732.1(CPLANE1):c.6125A>C (p.Glu2042Ala)
|
rs766565364
|
|
NM_001384732.1(CPLANE1):c.6456C>T (p.Asn2152=)
|
rs186460995
|
|
NM_001384732.1(CPLANE1):c.7095A>G (p.Pro2365=)
|
rs886060577
|
|
NM_001384732.1(CPLANE1):c.7417G>A (p.Glu2473Lys)
|
rs886060576
|
|
NM_001384732.1(CPLANE1):c.7438dup (p.Arg2480fs)
|
rs886060575
|
|
NM_001384732.1(CPLANE1):c.7478G>T (p.Arg2493Leu)
|
rs183942272
|
|
NM_001384732.1(CPLANE1):c.7494A>G (p.Ile2498Met)
|
rs1778030432
|
|
NM_001384732.1(CPLANE1):c.7984G>C (p.Val2662Leu)
|
rs772274656
|
|
NM_001384732.1(CPLANE1):c.8539G>C (p.Glu2847Gln)
|
rs886060574
|
|
NM_001384732.1(CPLANE1):c.8633-3del
|
rs34646696
|
|
NM_001384732.1(CPLANE1):c.8663+13A>C
|
rs1768906064
|
|
NM_001384732.1(CPLANE1):c.8663+8_8663+12del
|
rs763664569
|
|
NM_001384732.1(CPLANE1):c.8670A>G (p.Ser2890=)
|
rs886060573
|
|
NM_001384732.1(CPLANE1):c.9180A>G (p.Pro3060=)
|
rs1762653550
|
|
NM_001384732.1(CPLANE1):c.938+10C>G
|
rs1308998312
|
|
NM_001384732.1(CPLANE1):c.9414G>A (p.Pro3138=)
|
rs377707922
|
|
NM_001384732.1(CPLANE1):c.9729G>A (p.Leu3243=)
|
rs1339135347
|
|
NM_002408.4(MGAT2):c.-351G>T
|
rs116136260
|
|
NM_005465.7(AKT3):c.*5155_*5159dup
|
rs577416381
|
|
NM_006642.5(SDCCAG8):c.*149T>C
|
rs1057515424
|
|
NM_006642.5(SDCCAG8):c.*214_*217dup
|
rs1057515485
|
|
NM_006642.5(SDCCAG8):c.*287A>G
|
rs1057515459
|
|
NM_006642.5(SDCCAG8):c.*97G>A
|
rs554190542
|
|
NM_006642.5(SDCCAG8):c.-98C>T
|
rs886046329
|
|
NM_006642.5(SDCCAG8):c.117C>A (p.Gly39=)
|
rs778405068
|
|
NM_006642.5(SDCCAG8):c.1356G>A (p.Lys452=)
|
rs1057515483
|
|
NM_006642.5(SDCCAG8):c.1594G>A (p.Glu532Lys)
|
rs753709808
|
|
NM_006642.5(SDCCAG8):c.1695G>A (p.Gln565=)
|
rs2080533501
|
|
NM_006642.5(SDCCAG8):c.1745-7T>A
|
rs532763241
|
|
NM_006642.5(SDCCAG8):c.278C>T (p.Pro93Leu)
|
rs140413256
|
|
NM_006642.5(SDCCAG8):c.306+11A>G
|
rs781456866
|
|
NM_006642.5(SDCCAG8):c.420+12A>G
|
rs2068379887
|
|
NM_006642.5(SDCCAG8):c.597C>A (p.Gly199=)
|
rs143407309
|
|
NM_006642.5(SDCCAG8):c.916G>A (p.Glu306Lys)
|
rs777002036
|
|
NM_012144.4(DNAI1):c.*163C>G
|
rs1051948461
|
|
NM_012144.4(DNAI1):c.1163G>A (p.Cys388Tyr)
|
rs767667443
|
|
NM_012144.4(DNAI1):c.1818+15C>A
|
rs1825142151
|
|
NM_012144.4(DNAI1):c.22G>T (p.Ala8Ser)
|
rs11547035
|
|
NM_012144.4(DNAI1):c.262-8C>A
|
rs1824533419
|
|
NM_012144.4(DNAI1):c.649C>G (p.Pro217Ala)
|
rs886063882
|
|
NM_012210.4(TRIM32):c.*1060T>C
|
rs886063385
|
|
NM_012210.4(TRIM32):c.*1074A>T
|
rs1861131414
|
|
NM_012210.4(TRIM32):c.*1207A>G
|
rs886063386
|
|
NM_012210.4(TRIM32):c.*1254C>A
|
rs1861140982
|
|
NM_012210.4(TRIM32):c.*1490A>C
|
rs886063388
|
|
NM_012210.4(TRIM32):c.*152T>G
|
rs868402796
|
|
NM_012210.4(TRIM32):c.*206A>G
|
rs567913198
|
|
NM_012210.4(TRIM32):c.*250G>C
|
rs1861092175
|
|
NM_012210.4(TRIM32):c.*312G>C
|
rs1434937610
|
|
NM_012210.4(TRIM32):c.*371T>C
|
rs866692844
|
|
NM_012210.4(TRIM32):c.*464C>G
|
rs1861100376
|
|
NM_012210.4(TRIM32):c.*479G>T
|
rs543534409
|
|
NM_012210.4(TRIM32):c.*737T>C
|
rs549857802
|
|
NM_012210.4(TRIM32):c.*811del
|
rs886063382
|
|
NM_012210.4(TRIM32):c.*866A>C
|
rs886063383
|
|
NM_012210.4(TRIM32):c.-143C>T
|
rs1860294388
|
|
NM_012210.4(TRIM32):c.1573G>T (p.Gly525Cys)
|
rs1861055421
|
|
NM_012210.4(TRIM32):c.317G>A (p.Arg106His)
|
rs760730435
|
|
NM_012210.4(TRIM32):c.621A>G (p.Thr207=)
|
rs1206247561
|
|
NM_012210.4(TRIM32):c.660G>C (p.Val220=)
|
rs3747833
|
|
NM_012210.4(TRIM32):c.811C>T (p.Arg271Trp)
|
rs372298402
|
|
NM_012224.2(NEK1):c.-614C>A
|
rs10520157
|
|
NM_012472.6(DNAAF11):c.*197C>G
|
rs1814250341
|
|
NM_012472.6(DNAAF11):c.*32C>A
|
rs1814269845
|
|
NM_012472.6(DNAAF11):c.*68T>G
|
rs374717230
|
|
NM_012472.6(DNAAF11):c.1044+12C>A
|
rs564023548
|
|
NM_012472.6(DNAAF11):c.1223C>G (p.Thr408Arg)
|
rs1815572688
|
|
NM_012472.6(DNAAF11):c.1300G>A (p.Glu434Lys)
|
rs886062700
|
|
NM_012472.6(DNAAF11):c.234T>G (p.Ile78Met)
|
rs749435096
|
|
NM_012472.6(DNAAF11):c.574C>G (p.Gln192Glu)
|
rs141945265
|
|
NM_012472.6(DNAAF11):c.79_80del (p.Ser27fs)
|
rs769220870
|
|
NM_014714.4(IFT140):c.*158G>C
|
rs886051707
|
|
NM_014714.4(IFT140):c.*226T>G
|
rs886051706
|
|
NM_014714.4(IFT140):c.*278C>A
|
rs886051705
|
|
NM_014714.4(IFT140):c.*91G>T
|
rs2040116815
|
|
NM_014714.4(IFT140):c.-24C>G
|
rs373009406
|
|
NM_014714.4(IFT140):c.1006A>C (p.Lys336Gln)
|
rs752956717
|
|
NM_014714.4(IFT140):c.1380C>T (p.Asn460=)
|
rs1339640657
|
|
NM_014714.4(IFT140):c.154T>C (p.Cys52Arg)
|
rs886051770
|
|
NM_014714.4(IFT140):c.181C>T (p.Pro61Ser)
|
rs886051769
|
|
NM_014714.4(IFT140):c.2578-13C>T
|
rs886051723
|
|
NM_014714.4(IFT140):c.2682C>A (p.His894Gln)
|
rs774192784
|
|
NM_014714.4(IFT140):c.2682_2683insA (p.His895fs)
|
rs776988446
|
|
NM_014714.4(IFT140):c.2709C>T (p.Thr903=)
|
rs1460776036
|
|
NM_014714.4(IFT140):c.2755C>G (p.Arg919Gly)
|
rs548992623
|
|
NM_014714.4(IFT140):c.2997+8C>G
|
rs372183503
|
|
NM_014714.4(IFT140):c.3157G>A (p.Asp1053Asn)
|
rs148194893
|
|
NM_014714.4(IFT140):c.3215G>A (p.Arg1072Gln)
|
rs201884886
|
|
NM_014714.4(IFT140):c.3385T>C (p.Cys1129Arg)
|
rs886051709
|
|
NM_014714.4(IFT140):c.3513G>A (p.Ala1171=)
|
rs763709094
|
|
NM_014714.4(IFT140):c.3660+13C>T
|
rs767836990
|
|
NM_014714.4(IFT140):c.3668G>A (p.Arg1223Lys)
|
rs751861503
|
|
NM_014714.4(IFT140):c.3943GCCAAG[2] (p.1315AK[2])
|
rs746697405
|
|
NM_014714.4(IFT140):c.4277G>A (p.Gly1426Glu)
|
rs886051708
|
|
NM_014714.4(IFT140):c.459G>T (p.Thr153=)
|
rs61739554
|
|
NM_014714.4(IFT140):c.481C>G (p.Pro161Ala)
|
rs148462329
|
|
NM_014714.4(IFT140):c.754C>T (p.Leu252Phe)
|
rs886051768
|
|
NM_014714.4(IFT140):c.772A>T (p.Thr258Ser)
|
rs141254616
|
|
NM_014714.4(IFT140):c.810+9G>T
|
rs886051767
|
|
NM_014714.4(IFT140):c.836G>C (p.Arg279Pro)
|
rs4786350
|
|
NM_014714.4(IFT140):c.867C>G (p.Ser289Arg)
|
rs145858131
|
|
NM_014714.4(IFT140):c.867C>T (p.Ser289=)
|
rs145858131
|
|
NM_014714.4(IFT140):c.937C>G (p.Leu313Val)
|
rs758052767
|
|
NM_015102.5(NPHP4):c.*26C>T
|
rs533259623
|
|
NM_015102.5(NPHP4):c.*87C>G
|
rs1640812510
|
|
NM_015102.5(NPHP4):c.136-12G>C
|
rs371432148
|
|
NM_015102.5(NPHP4):c.136-4del
|
rs143323188
|
|
NM_015102.5(NPHP4):c.1463G>C (p.Arg488Pro)
|
rs375429200
|
|
NM_015102.5(NPHP4):c.1527C>T (p.Ala509=)
|
rs773573886
|
|
NM_015102.5(NPHP4):c.1955+7C>A
|
rs886046466
|
|
NM_015102.5(NPHP4):c.1987C>A (p.Pro663Thr)
|
rs886046465
|
|
NM_015102.5(NPHP4):c.2021G>T (p.Arg674Leu)
|
rs375416303
|
|
NM_015102.5(NPHP4):c.2374G>A (p.Glu792Lys)
|
rs764028061
|
|
NM_015102.5(NPHP4):c.2434G>A (p.Gly812Ser)
|
rs755644390
|
|
NM_015102.5(NPHP4):c.2673A>G (p.Leu891=)
|
rs974196549
|
|
NM_015102.5(NPHP4):c.3045-4C>A
|
rs886046462
|
|
NM_015102.5(NPHP4):c.3078C>T (p.Phe1026=)
|
rs886046461
|
|
NM_015102.5(NPHP4):c.3082G>C (p.Gly1028Arg)
|
rs1557616048
|
|
NM_015102.5(NPHP4):c.3758G>A (p.Arg1253Gln)
|
rs560944258
|
|
NM_015102.5(NPHP4):c.3762G>T (p.Gly1254=)
|
rs762953303
|
|
NM_015102.5(NPHP4):c.3964T>G (p.Cys1322Gly)
|
rs748449029
|
|
NM_015102.5(NPHP4):c.820C>G (p.Pro274Ala)
|
rs886046467
|
|
NM_015120.4(ALMS1):c.-107G>A
|
rs886056292
|
|
NM_015120.4(ALMS1):c.-39CTC[4]
|
rs746980000
|
|
NM_015120.4(ALMS1):c.-39del
|
rs764473588
|
|
NM_015120.4(ALMS1):c.-48C>T
|
rs543687863
|
|
NM_015120.4(ALMS1):c.-78A>G
|
rs571728800
|
|
NM_015120.4(ALMS1):c.-91A>G
|
rs1670500821
|
|
NM_015120.4(ALMS1):c.106_108dup (p.Ala36_Asn37insAla)
|
rs746896173
|
|
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.1372G>A (p.Glu458Lys)
|
rs776941281
|
|
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.230+14G>A
|
rs1970739259
|
|
NM_015272.5(RPGRIP1L):c.2565C>T (p.Tyr855=)
|
rs886052096
|
|
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.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.3578C>T (p.Pro1193Leu)
|
rs886052092
|
|
NM_015272.5(RPGRIP1L):c.3617-13dup
|
rs750499169
|
|
NM_015272.5(RPGRIP1L):c.3903C>A (p.Ala1301=)
|
rs773361667
|
|
NM_015272.5(RPGRIP1L):c.639C>A (p.Asn213Lys)
|
rs376808910
|
|
NM_015272.5(RPGRIP1L):c.95C>T (p.Thr32Ile)
|
rs1195150584
|
|
NM_015681.6(B9D1):c.-21C>T
|
rs1911267997
|
|
NM_015681.6(B9D1):c.9C>G (p.Thr3=)
|
rs749611797
|
|
NM_015910.6(WDPCP):c.-322delT
|
rs886056228
|
|
NM_015910.7(WDPCP):c.*138GTTT[1]
|
rs886056221
|
|
NM_015910.7(WDPCP):c.*586AG[2]
|
rs886056220
|
|
NM_015910.7(WDPCP):c.*624_*625del
|
rs139878372
|
|
NM_015910.7(WDPCP):c.*634A>G
|
rs944385657
|
|
NM_015910.7(WDPCP):c.-108GCG[6]
|
rs563531309
|
|
NM_015910.7(WDPCP):c.-96G>T
|
rs1282451086
|
|
NM_015910.7(WDPCP):c.1080G>A (p.Ser360=)
|
rs376164426
|
|
NM_015910.7(WDPCP):c.1322T>C (p.Met441Thr)
|
rs886056224
|
|
NM_015910.7(WDPCP):c.142A>G (p.Asn48Asp)
|
rs1700981081
|
|
NM_015910.7(WDPCP):c.1600C>A (p.Gln534Lys)
|
rs987143451
|
|
NM_015910.7(WDPCP):c.1706A>T (p.Gln569Leu)
|
rs780342443
|
|
NM_015910.7(WDPCP):c.1731C>A (p.Phe577Leu)
|
rs778132438
|
|
NM_015910.7(WDPCP):c.1923G>A (p.Leu641=)
|
rs886056223
|
|
NM_015910.7(WDPCP):c.1945A>G (p.Met649Val)
|
rs759281211
|
|
NM_015910.7(WDPCP):c.2158+14A>G
|
rs1042442806
|
|
NM_015910.7(WDPCP):c.2216A>G (p.Lys739Arg)
|
rs374727283
|
|
NM_015910.7(WDPCP):c.254C>T (p.Ser85Leu)
|
rs886056225
|
|
NM_015910.7(WDPCP):c.630_631dup (p.Lys211fs)
|
rs769674404
|
|
NM_015910.7(WDPCP):c.661A>G (p.Ile221Val)
|
rs571641878
|
|
NM_015910.7(WDPCP):c.924A>G (p.Val308=)
|
rs201844706
|
|
NM_016464.4(TMEM138):c.-226C>G
|
rs545702620
|
|
NM_016464.4(TMEM138):c.-350A>C
|
rs886048406
|
|
NM_016464.4(TMEM138):c.-518C>T
|
rs530037192
|
|
NM_016464.4(TMEM138):c.-520_-518delTCC
|
rs369988724
|
|
NM_016464.5(TMEM138):c.*407G>C
|
rs886048410
|
|
NM_016464.5(TMEM138):c.128+15G>A
|
rs886048408
|
|
NM_016464.5(TMEM138):c.274A>C (p.Ser92Arg)
|
rs1858145836
|
|
NM_016464.5(TMEM138):c.379G>T (p.Ala127Ser)
|
rs1349854928
|
|
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_017777.4(MKS1):c.-20C>G
|
rs115507363
|
|
NM_017777.4(MKS1):c.1253T>C (p.Val418Ala)
|
rs886053169
|
|
NM_017777.4(MKS1):c.1273+4A>G
|
rs948397956
|
|
NM_017777.4(MKS1):c.1598G>A (p.Arg533His)
|
rs779093781
|
|
NM_017777.4(MKS1):c.263T>C (p.Phe88Ser)
|
rs886053170
|
|
NM_017777.4(MKS1):c.407A>C (p.Asn136Thr)
|
rs1969184476
|
|
NM_017777.4(MKS1):c.729G>T (p.Thr243=)
|
rs373491923
|
|
NM_017777.4(MKS1):c.763G>T (p.Gly255Trp)
|
rs201237547
|
|
NM_017777.4(MKS1):c.80+14C>G
|
rs761061379
|
|
NM_017777.4(MKS1):c.813C>A (p.His271Gln)
|
rs201961765
|
|
NM_017950.4(CCDC40):c.*190A>G
|
rs886053535
|
|
NM_017950.4(CCDC40):c.*201G>A
|
rs1371835117
|
|
NM_017950.4(CCDC40):c.*347C>T
|
rs886053538
|
|
NM_017950.4(CCDC40):c.*632G>A
|
rs369325014
|
|
NM_017950.4(CCDC40):c.*681T>C
|
rs2038901677
|
|
NM_017950.4(CCDC40):c.1054C>T (p.His352Tyr)
|
rs763452738
|
|
NM_017950.4(CCDC40):c.1467C>T (p.Ser489=)
|
rs200154414
|
|
NM_017950.4(CCDC40):c.1531G>A (p.Glu511Lys)
|
rs59978698
|
|
NM_017950.4(CCDC40):c.1544C>T (p.Ala515Val)
|
rs774455448
|
|
NM_017950.4(CCDC40):c.1896C>T (p.Ile632=)
|
rs886053534
|
|
NM_017950.4(CCDC40):c.1974G>A (p.Lys658=)
|
rs777997435
|
|
NM_017950.4(CCDC40):c.2169C>T (p.Ile723=)
|
rs200641382
|
|
NM_017950.4(CCDC40):c.2711+11G>T
|
rs1434924240
|
|
NM_017950.4(CCDC40):c.2712-1G>T
|
rs370706991
|
|
NM_017950.4(CCDC40):c.2832+462_2832+463insCAC
|
rs10693712
|
|
NM_017950.4(CCDC40):c.2900G>A (p.Arg967His)
|
rs61686936
|
|
NM_017950.4(CCDC40):c.2900G>T (p.Arg967Leu)
|
rs61686936
|
|
NM_017950.4(CCDC40):c.2926G>C (p.Glu976Gln)
|
rs761440789
|
|
NM_017950.4(CCDC40):c.3263G>A (p.Arg1088His)
|
rs200145777
|
|
NM_017950.4(CCDC40):c.3284dup (p.Glu1096fs)
|
rs1567819753
|
|
NM_017950.4(CCDC40):c.3338G>T (p.Arg1113Leu)
|
rs368814379
|
|
NM_017950.4(CCDC40):c.552+5G>A
|
rs2037242772
|
|
NM_017950.4(CCDC40):c.553-6C>A
|
rs758045878
|
|
NM_018139.3(DNAAF2):c.*157A>G
|
rs1010007979
|
|
NM_018139.3(DNAAF2):c.*182del
|
rs879075266
|
|
NM_018139.3(DNAAF2):c.*213A>G
|
rs1882971555
|
|
NM_018139.3(DNAAF2):c.1114C>G (p.Arg372Gly)
|
rs758481481
|
|
NM_018139.3(DNAAF2):c.1136C>G (p.Ala379Gly)
|
rs967364703
|
|
NM_018139.3(DNAAF2):c.1502C>T (p.Thr501Met)
|
rs375822050
|
|
NM_018139.3(DNAAF2):c.1552G>A (p.Gly518Arg)
|
rs145008882
|
|
NM_018139.3(DNAAF2):c.1568C>T (p.Pro523Leu)
|
rs199957238
|
|
NM_018139.3(DNAAF2):c.1585C>T (p.Gln529Ter)
|
rs139416233
|
|
NM_018139.3(DNAAF2):c.1596A>G (p.Glu532=)
|
rs374369407
|
|
NM_018139.3(DNAAF2):c.387C>G (p.Arg129=)
|
rs886050529
|
|
NM_018139.3(DNAAF2):c.411C>A (p.Ser137Arg)
|
rs541232616
|
|
NM_018139.3(DNAAF2):c.864A>G (p.Glu288=)
|
rs1883265471
|
|
NM_018718.2(CEP41):c.-178C>A
|
rs10230670
|
|
NM_018718.2(CEP41):c.-178C>T
|
rs10230670
|
|
NM_018718.2(CEP41):c.-244A>T
|
rs886062003
|
|
NM_018718.3(CEP41):c.*1191G>A
|
rs781848072
|
|
NM_018718.3(CEP41):c.*1357del
|
rs886061999
|
|
NM_018718.3(CEP41):c.*1384del
|
rs55776575
|
|
NM_018718.3(CEP41):c.*1384dup
|
rs55776575
|
|
NM_018718.3(CEP41):c.*1386dup
|
rs886061997
|
|
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.*3526dup
|
rs3839655
|
|
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.244G>T (p.Glu82Ter)
|
rs1562984087
|
|
NM_018718.3(CEP41):c.278-15A>C
|
rs142452124
|
|
NM_018718.3(CEP41):c.278-15A>T
|
rs142452124
|
|
NM_018719.5(CDCA7L):c.*551CACTGGA[1]
|
rs113860457
|
|
NM_018719.5(CDCA7L):c.*766_*769dup
|
rs745609865
|
|
NM_018719.5(CDCA7L):c.*788T>C
|
rs1289391313
|
|
NM_018719.5(CDCA7L):c.*875G>A
|
rs72658842
|
|
NM_018719.5(CDCA7L):c.*879G>C
|
rs62445901
|
|
NM_018719.5(CDCA7L):c.*918_*919dup
|
rs886062190
|
|
NM_018719.5(CDCA7L):c.*989G>A
|
rs886062189
|
|
NM_019892.6(INPP5E):c.*484C>G
|
rs1358870988
|
|
NM_019892.6(INPP5E):c.*559C>T
|
rs1835639348
|
|
NM_019892.6(INPP5E):c.*582C>T
|
rs931605716
|
|
NM_019892.6(INPP5E):c.*727C>T
|
rs886063709
|
|
NM_019892.6(INPP5E):c.-149C>T
|
rs1386453934
|
|
NM_019892.6(INPP5E):c.-343T>C
|
rs886063715
|
|
NM_019892.6(INPP5E):c.1009G>C (p.Gly337Arg)
|
rs368235861
|
|
NM_019892.6(INPP5E):c.1034+8G>A
|
rs201272028
|
|
NM_019892.6(INPP5E):c.1074G>A (p.Pro358=)
|
rs746782404
|
|
NM_019892.6(INPP5E):c.1159+7_1159+8insGGTGGGCGTGGCTGGAGG
|
rs71269007
|
|
NM_019892.6(INPP5E):c.1279+14T>C
|
rs886063711
|
|
NM_019892.6(INPP5E):c.136G>A (p.Glu46Lys)
|
rs886063713
|
|
NM_019892.6(INPP5E):c.1479G>A (p.Leu493=)
|
rs754015058
|
|
NM_019892.6(INPP5E):c.1521C>T (p.His507=)
|
rs10870188
|
|
NM_019892.6(INPP5E):c.1547A>G (p.Lys516Arg)
|
rs13294000
|
|
NM_019892.6(INPP5E):c.1743G>A (p.Thr581=)
|
rs368026621
|
|
NM_019892.6(INPP5E):c.1791G>A (p.Pro597=)
|
rs10870182
|
|
NM_019892.6(INPP5E):c.1791G>C (p.Pro597=)
|
rs10870182
|
|
NM_019892.6(INPP5E):c.812+3AGGG[3]
|
rs5901103
|
|
NM_019892.6(INPP5E):c.812+7_812+10del
|
rs5901103
|
|
NM_020779.4(WDR35):c.*1005C>A
|
rs746476400
|
|
NM_020779.4(WDR35):c.*1270C>T
|
rs568999408
|
|
NM_020779.4(WDR35):c.*1461A>C
|
rs886055400
|
|
NM_020779.4(WDR35):c.*1637C>T
|
rs1669848389
|
|
NM_020779.4(WDR35):c.*16T>C
|
rs1669898811
|
|
NM_020779.4(WDR35):c.*1754C>G
|
rs1188052659
|
|
NM_020779.4(WDR35):c.*1934A>G
|
rs886055399
|
|
NM_020779.4(WDR35):c.*1960G>T
|
rs1669835588
|
|
NM_020779.4(WDR35):c.*2239G>A
|
rs1042042509
|
|
NM_020779.4(WDR35):c.*2341G>C
|
rs886055397
|
|
NM_020779.4(WDR35):c.*2629T>A
|
rs1001737898
|
|
NM_020779.4(WDR35):c.*271A>G
|
rs994131640
|
|
NM_020779.4(WDR35):c.*2962C>T
|
rs886055393
|
|
NM_020779.4(WDR35):c.*2990G>T
|
rs781556463
|
|
NM_020779.4(WDR35):c.*573A>T
|
rs140069324
|
|
NM_020779.4(WDR35):c.*635C>T
|
rs1669878199
|
|
NM_020779.4(WDR35):c.*978A>G
|
rs149444449
|
|
NM_020779.4(WDR35):c.*998A>G
|
rs530093062
|
|
NM_020779.4(WDR35):c.1058G>C (p.Arg353Pro)
|
rs76623454
|
|
NM_020779.4(WDR35):c.1231T>G (p.Leu411Val)
|
rs1418266904
|
|
NM_020779.4(WDR35):c.1609C>G (p.Gln537Glu)
|
rs1416766008
|
|
NM_020779.4(WDR35):c.24+4A>G
|
rs780961583
|
|
NM_020779.4(WDR35):c.2400T>C (p.Ala800=)
|
rs886055404
|
|
NM_020779.4(WDR35):c.2455G>A (p.Glu819Lys)
|
rs768049606
|
|
NM_020779.4(WDR35):c.2492A>G (p.Tyr831Cys)
|
rs886055403
|
|
NM_020779.4(WDR35):c.273A>G (p.Glu91=)
|
rs1558360162
|
|
NM_020779.4(WDR35):c.308G>C (p.Gly103Ala)
|
rs886055406
|
|
NM_020779.4(WDR35):c.3464A>C (p.Glu1155Ala)
|
rs1669900626
|
|
NM_020800.2(IFT80):c.-321A>G
|
rs886058137
|
|
NM_020800.3(IFT80):c.*1210TA[8]
|
rs150435844
|
|
NM_020800.3(IFT80):c.*1254C>T
|
rs552228241
|
|
NM_020800.3(IFT80):c.*130G>C
|
rs769437271
|
|
NM_020800.3(IFT80):c.*540A>G
|
rs886058127
|
|
NM_020800.3(IFT80):c.*844G>T
|
rs886058125
|
|
NM_020800.3(IFT80):c.*94A>G
|
rs1712528091
|
|
NM_020800.3(IFT80):c.-31G>A
|
rs886058135
|
|
NM_020800.3(IFT80):c.1316-13A>C
|
rs886058132
|
|
NM_020800.3(IFT80):c.1339A>G (p.Thr447Ala)
|
rs1715048069
|
|
NM_020800.3(IFT80):c.1381-1G>T
|
rs1559917932
|
|
NM_020800.3(IFT80):c.1401T>C (p.Ala467=)
|
rs1714770364
|
|
NM_020800.3(IFT80):c.1525G>T (p.Val509Leu)
|
rs758912357
|
|
NM_020800.3(IFT80):c.1993A>T (p.Ile665Leu)
|
rs886058130
|
|
NM_020800.3(IFT80):c.2038C>T (p.Leu680Phe)
|
rs747952085
|
|
NM_020800.3(IFT80):c.2205C>T (p.Tyr735=)
|
rs886058129
|
|
NM_020800.3(IFT80):c.2224-10del
|
rs58665245
|
|
NM_020800.3(IFT80):c.2224-10dup
|
rs58665245
|
|
NM_020800.3(IFT80):c.282G>A (p.Lys94=)
|
rs548358266
|
|
NM_020800.3(IFT80):c.483G>T (p.Lys161Asn)
|
rs886058133
|
|
NM_020800.3(IFT80):c.617C>A (p.Ala206Asp)
|
rs1721180241
|
|
NM_020800.3(IFT80):c.668A>G (p.Tyr223Cys)
|
rs201223006
|
|
NM_020800.3(IFT80):c.710G>A (p.Trp237Ter)
|
rs201858128
|
|
NM_020800.3(IFT80):c.842G>A (p.Gly281Asp)
|
rs572058775
|
|
NM_023036.6(DNAI2):c.*272C>G
|
rs886053380
|
|
NM_023036.6(DNAI2):c.*339C>T
|
rs2053734425
|
|
NM_023036.6(DNAI2):c.-21C>A
|
rs753355539
|
|
NM_023036.6(DNAI2):c.-4C>T
|
rs757989808
|
|
NM_023036.6(DNAI2):c.1130C>A (p.Pro377Gln)
|
rs199726930
|
|
NM_023036.6(DNAI2):c.123C>T (p.Phe41=)
|
rs542439989
|
|
NM_023036.6(DNAI2):c.1248C>T (p.Ser416=)
|
rs886053378
|
|
NM_023036.6(DNAI2):c.1348-15C>G
|
rs755825865
|
|
NM_023036.6(DNAI2):c.1455C>G (p.Leu485=)
|
rs901923607
|
|
NM_023036.6(DNAI2):c.1489T>A (p.Ser497Thr)
|
rs776297555
|
|
NM_023036.6(DNAI2):c.1644C>A (p.Ala548=)
|
rs9908476
|
|
NM_023036.6(DNAI2):c.1644C>T (p.Ala548=)
|
rs9908476
|
|
NM_023036.6(DNAI2):c.1737AGA[2] (p.Glu581del)
|
rs886053379
|
|
NM_023036.6(DNAI2):c.39G>A (p.Glu13=)
|
rs533814143
|
|
NM_023036.6(DNAI2):c.611-3T>C
|
rs886053377
|
|
NM_023036.6(DNAI2):c.982A>G (p.Thr328Ala)
|
rs2052739853
|
|
NM_023073.3(CPLANE1):c.-234G>A
|
rs80164363
|
|
NM_024649.5(BBS1):c.*474G>A
|
rs146244814
|
|
NM_024649.5(BBS1):c.*514C>T
|
rs886048527
|
|
NM_024649.5(BBS1):c.*51C>G
|
rs757289650
|
|
NM_024649.5(BBS1):c.*562_*563dup
|
rs886048529
|
|
NM_024649.5(BBS1):c.*776G>A
|
rs1856839016
|
|
NM_024649.5(BBS1):c.*855G>A
|
rs886048530
|
|
NM_024649.5(BBS1):c.*886C>T
|
rs754365737
|
|
NM_024649.5(BBS1):c.1071T>C (p.Ile357=)
|
rs1856362378
|
|
NM_024649.5(BBS1):c.1088T>C (p.Leu363Pro)
|
rs540217506
|
|
NM_024649.5(BBS1):c.1138C>T (p.Arg380Trp)
|
rs752299442
|
|
NM_024649.5(BBS1):c.1180+5G>A
|
rs886048525
|
|
NM_024649.5(BBS1):c.1709G>A (p.Arg570Gln)
|
rs1856803176
|
|
NM_024649.5(BBS1):c.316C>G (p.Leu106Val)
|
rs137853913
|
|
NM_024649.5(BBS1):c.338A>G (p.Tyr113Cys)
|
rs753517084
|
|
NM_024649.5(BBS1):c.485C>A (p.Thr162Lys)
|
rs148576114
|
|
NM_024685.4(BBS10):c.*1145A>C
|
rs886049841
|
|
NM_024685.4(BBS10):c.*1189dup
|
rs886049840
|
|
NM_024685.4(BBS10):c.*1241_*1244del
|
rs886049838
|
|
NM_024685.4(BBS10):c.*1275A>C
|
rs886049837
|
|
NM_024685.4(BBS10):c.*48G>C
|
rs1951752530
|
|
NM_024685.4(BBS10):c.*641AT[2]
|
rs886049845
|
|
NM_024685.4(BBS10):c.*891T>C
|
rs886049844
|
|
NM_024685.4(BBS10):c.*930A>G
|
rs886049843
|
|
NM_024685.4(BBS10):c.-4A>G
|
rs886049853
|
|
NM_024685.4(BBS10):c.1091del (p.Asn364fs)
|
rs727503818
|
|
NM_024685.4(BBS10):c.1158G>A (p.Leu386=)
|
rs138702315
|
|
NM_024685.4(BBS10):c.1203A>T (p.Gly401=)
|
rs1951762391
|
|
NM_024685.4(BBS10):c.1465G>C (p.Val489Leu)
|
rs1478926935
|
|
NM_024685.4(BBS10):c.1472C>A (p.Ser491Tyr)
|
rs886049850
|
|
NM_024685.4(BBS10):c.147G>A (p.Arg49=)
|
rs1592493118
|
|
NM_024685.4(BBS10):c.1566G>T (p.Thr522=)
|
rs1200334802
|
|
NM_024685.4(BBS10):c.1567C>A (p.Leu523Met)
|
rs886049849
|
|
NM_024685.4(BBS10):c.1949del (p.Gly650fs)
|
rs769028262
|
|
NM_024685.4(BBS10):c.197+4C>T
|
rs886049852
|
|
NM_024685.4(BBS10):c.1973A>T (p.Tyr658Phe)
|
rs886049848
|
|
NM_024685.4(BBS10):c.271dup (p.Cys91fs)
|
rs549625604
|
|
NM_024685.4(BBS10):c.460T>C (p.Leu154=)
|
rs754415474
|
|
NM_024685.4(BBS10):c.681C>G (p.Gly227=)
|
rs886049851
|
|
NM_024685.4(BBS10):c.969A>G (p.Ala323=)
|
rs1951764520
|
|
NM_024753.4(TTC21B):c.-75A>C
|
rs886055032
|
|
NM_024753.4(TTC21B):c.-82C>G
|
rs543599575
|
|
NM_024753.5(TTC21B):c.*1117A>G
|
rs189771746
|
|
NM_024753.5(TTC21B):c.*1123dup
|
rs886055020
|
|
NM_024753.5(TTC21B):c.*451G>C
|
rs886055023
|
|
NM_024753.5(TTC21B):c.*540T>C
|
rs534739269
|
|
NM_024753.5(TTC21B):c.*544A>G
|
rs565605248
|
|
NM_024753.5(TTC21B):c.*681G>A
|
rs545195226
|
|
NM_024753.5(TTC21B):c.*926C>A
|
rs1046348644
|
|
NM_024753.5(TTC21B):c.1116G>T (p.Gly372=)
|
rs771405314
|
|
NM_024753.5(TTC21B):c.114C>G (p.Val38=)
|
rs34486024
|
|
NM_024753.5(TTC21B):c.1181C>T (p.Ser394Phe)
|
rs748339995
|
|
NM_024753.5(TTC21B):c.1578T>C (p.Ala526=)
|
rs573290536
|
|
NM_024753.5(TTC21B):c.1609T>C (p.Leu537=)
|
rs200916824
|
|
NM_024753.5(TTC21B):c.1682A>G (p.Asp561Gly)
|
rs1354455514
|
|
NM_024753.5(TTC21B):c.2084C>T (p.Ala695Val)
|
rs1686122209
|
|
NM_024753.5(TTC21B):c.2530A>G (p.Met844Val)
|
rs766811699
|
|
NM_024753.5(TTC21B):c.2569-10dup
|
rs144600502
|
|
NM_024753.5(TTC21B):c.2622T>G (p.Asp874Glu)
|
rs886055026
|
|
NM_024753.5(TTC21B):c.2830C>A (p.Leu944Met)
|
rs1685490402
|
|
NM_024753.5(TTC21B):c.2901C>G (p.Asp967Glu)
|
rs886055025
|
|
NM_024753.5(TTC21B):c.2983C>G (p.Leu995Val)
|
rs1685169149
|
|
NM_024753.5(TTC21B):c.3042A>G (p.Lys1014=)
|
rs755454992
|
|
NM_024753.5(TTC21B):c.3519T>C (p.Thr1173=)
|
rs115504901
|
|
NM_024753.5(TTC21B):c.3519T>G (p.Thr1173=)
|
rs115504901
|
|
NM_024753.5(TTC21B):c.63T>C (p.His21=)
|
rs886055029
|
|
NM_024753.5(TTC21B):c.685G>A (p.Asp229Asn)
|
rs769003862
|
|
NM_024753.5(TTC21B):c.793A>C (p.Lys265Gln)
|
rs886055027
|
|
NM_024753.5(TTC21B):c.95G>A (p.Arg32Lys)
|
rs886055028
|
|
NM_024809.5(TCTN2):c.*166T>G
|
rs886049057
|
|
NM_024809.5(TCTN2):c.*290C>G
|
rs886531596
|
|
NM_024809.5(TCTN2):c.*330_*331insACTC
|
rs56918215
|
|
NM_024809.5(TCTN2):c.*493T>A
|
rs569489612
|
|
NM_024809.5(TCTN2):c.*562G>C
|
rs772401980
|
|
NM_024809.5(TCTN2):c.*608T>C
|
rs1956257782
|
|
NM_024809.5(TCTN2):c.*71T>G
|
rs1956249051
|
|
NM_024809.5(TCTN2):c.1267T>G (p.Leu423Val)
|
rs1956093773
|
|
NM_024809.5(TCTN2):c.1573G>C (p.Asp525His)
|
rs763505614
|
|
NM_024809.5(TCTN2):c.1886C>G (p.Pro629Arg)
|
rs886049056
|
|
NM_024809.5(TCTN2):c.1949C>T (p.Pro650Leu)
|
rs1393954437
|
|
NM_024809.5(TCTN2):c.464-7T>A
|
rs1955862855
|
|
NM_024809.5(TCTN2):c.490G>T (p.Val164Leu)
|
rs776834352
|
|
NM_024809.5(TCTN2):c.615C>A (p.Gly205=)
|
rs147485641
|
|
NM_024809.5(TCTN2):c.671C>A (p.Thr224Lys)
|
rs376996387
|
|
NM_024809.5(TCTN2):c.671C>T (p.Thr224Met)
|
rs376996387
|
|
NM_024809.5(TCTN2):c.752A>G (p.Tyr251Cys)
|
rs368146331
|
|
NM_024809.5(TCTN2):c.813A>C (p.Ala271=)
|
rs886049054
|
|
NM_024809.5(TCTN2):c.892G>C (p.Val298Leu)
|
rs886049055
|
|
NM_025114.4(CEP290):c.-118C>G
|
rs886049887
|
|
NM_025114.4(CEP290):c.-208C>T
|
rs551070690
|
|
NM_025114.4(CEP290):c.1142A>G (p.Asn381Ser)
|
rs1295338042
|
|
NM_025114.4(CEP290):c.1623+10G>A
|
rs377529198
|
|
NM_025114.4(CEP290):c.1623+10G>T
|
rs377529198
|
|
NM_025114.4(CEP290):c.1921G>C (p.Val641Leu)
|
rs886049883
|
|
NM_025114.4(CEP290):c.2090C>G (p.Ala697Gly)
|
rs200454865
|
|
NM_025114.4(CEP290):c.2217+3G>A
|
rs765291878
|
|
NM_025114.4(CEP290):c.2484-18GTTTT[4]
|
rs745522483
|
|
NM_025114.4(CEP290):c.2869G>A (p.Val957Ile)
|
rs2038007630
|
|
NM_025114.4(CEP290):c.3152A>T (p.Asp1051Val)
|
rs2037238288
|
|
NM_025114.4(CEP290):c.3309+2_3309+3dup
|
rs886049881
|
|
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.3762G>C (p.Leu1254Phe)
|
rs2036834615
|
|
NM_025114.4(CEP290):c.3950A>C (p.Lys1317Thr)
|
rs778137534
|
|
NM_025114.4(CEP290):c.4087C>T (p.Arg1363Trp)
|
rs181121175
|
|
NM_025114.4(CEP290):c.442-11del
|
rs199511358
|
|
NM_025114.4(CEP290):c.442-22_442-21dup
|
rs199511358
|
|
NM_025114.4(CEP290):c.442-22dup
|
rs199511358
|
|
NM_025114.4(CEP290):c.4555A>G (p.Ile1519Val)
|
rs200817579
|
|
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.5227-14del
|
rs747878752
|
|
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.5587-8T>C
|
rs886049878
|
|
NM_025114.4(CEP290):c.5607T>C (p.Asn1869=)
|
rs777353443
|
|
NM_025114.4(CEP290):c.5842G>T (p.Asp1948Tyr)
|
rs886049877
|
|
NM_025114.4(CEP290):c.6522+5dup
|
rs11405846
|
|
NM_025114.4(CEP290):c.6566G>T (p.Ser2189Ile)
|
rs2034338160
|
|
NM_025114.4(CEP290):c.6694A>G (p.Ile2232Val)
|
rs2034240720
|
|
NM_025114.4(CEP290):c.7209+11_7209+14del
|
rs750259100
|
|
NM_025114.4(CEP290):c.7209+7T>G
|
rs745813087
|
|
NM_025114.4(CEP290):c.942+6T>G
|
rs886049884
|
|
NM_025114.4(CEP290):c.963T>A (p.Asp321Glu)
|
rs774072453
|
|
NM_025132.3(WDR19):c.-59dup
|
rs558898928
|
|
NM_025132.4(WDR19):c.*124T>G
|
rs1737119800
|
|
NM_025132.4(WDR19):c.*184T>G
|
rs886059405
|
|
NM_025132.4(WDR19):c.*293_*296dup
|
rs374474677
|
|
NM_025132.4(WDR19):c.*83G>C
|
rs111976533
|
|
NM_025132.4(WDR19):c.1293C>T (p.Ala431=)
|
rs886059397
|
|
NM_025132.4(WDR19):c.171T>C (p.Cys57=)
|
rs1483597668
|
|
NM_025132.4(WDR19):c.1775A>T (p.Gln592Leu)
|
rs190192706
|
|
NM_025132.4(WDR19):c.198A>T (p.Gly66=)
|
rs749815295
|
|
NM_025132.4(WDR19):c.2218T>C (p.Tyr740His)
|
rs886059399
|
|
NM_025132.4(WDR19):c.2251G>A (p.Glu751Lys)
|
rs1730954326
|
|
NM_025132.4(WDR19):c.2429A>G (p.Asp810Gly)
|
rs886059400
|
|
NM_025132.4(WDR19):c.2430T>G (p.Asp810Glu)
|
rs1375996391
|
|
NM_025132.4(WDR19):c.2782A>T (p.Ile928Phe)
|
rs780963454
|
|
NM_025132.4(WDR19):c.2872G>C (p.Ala958Pro)
|
rs1057523257
|
|
NM_025132.4(WDR19):c.3358+15C>T
|
rs750722358
|
|
NM_025132.4(WDR19):c.3439A>G (p.Met1147Val)
|
rs886059401
|
|
NM_025132.4(WDR19):c.3602G>A (p.Cys1201Tyr)
|
rs886059402
|
|
NM_025132.4(WDR19):c.3775C>A (p.Leu1259Ile)
|
rs886059403
|
|
NM_025132.4(WDR19):c.750A>T (p.Ser250=)
|
rs886059395
|
|
NM_031427.4(DNAL1):c.*1823del
|
rs59065500
|
|
NM_031427.4(DNAL1):c.*1824del
|
rs886050695
|
|
NM_031427.4(DNAL1):c.*2018CTT[1]
|
rs562566868
|
|
NM_031427.4(DNAL1):c.*2570del
|
rs746527785
|
|
NM_031427.4(DNAL1):c.*3110_*3111dup
|
rs769560403
|
|
NM_031427.4(DNAL1):c.*334del
|
rs147394906
|
|
NM_031427.4(DNAL1):c.*3356del
|
rs529762916
|
|
NM_031427.4(DNAL1):c.*4427del
|
rs398025673
|
|
NM_031427.4(DNAL1):c.*6015_*6016del
|
rs10594595
|
|
NM_031427.4(DNAL1):c.*6016del
|
rs10594595
|
|
NM_031427.4(DNAL1):c.*6137del
|
rs886050714
|
|
NM_031427.4(DNAL1):c.*6138TG[10]
|
rs10679978
|
|
NM_031427.4(DNAL1):c.*6138TG[12]
|
rs10679978
|
|
NM_031427.4(DNAL1):c.*6138TG[14]
|
rs10679978
|
|
NM_031427.4(DNAL1):c.*6138TG[15]
|
rs10679978
|
|
NM_031427.4(DNAL1):c.*6138TG[16]
|
rs10679978
|
|
NM_031427.4(DNAL1):c.*6147_*6148insCG
|
rs886050719
|
|
NM_031427.4(DNAL1):c.*6163_*6164insTGCACG
|
rs1555340583
|
|
NM_031427.4(DNAL1):c.*6216dup
|
rs779734012
|
|
NM_031427.4(DNAL1):c.*6341_*6343del
|
rs886050724
|
|
NM_031427.4(DNAL1):c.*7017dup
|
rs367557905
|
|
NM_031427.4(DNAL1):c.*7414_*7419del
|
rs886050727
|
|
NM_031885.3(BBS2):c.-163C>T
|
rs750434595
|
|
NM_031885.3(BBS2):c.-191G>T
|
rs16964239
|
|
NM_031885.3(BBS2):c.-242T>C
|
rs12446354
|
|
NM_031885.5(BBS2):c.-118C>T
|
rs1042357903
|
|
NM_031885.5(BBS2):c.-133C>T
|
rs886052152
|
|
NM_031885.5(BBS2):c.-137C>G
|
rs77438708
|
|
NM_031885.5(BBS2):c.-161G>A
|
rs886052155
|
|
NM_031885.5(BBS2):c.-22C>T
|
rs528287127
|
|
NM_031885.5(BBS2):c.-67C>G
|
rs886052151
|
|
NM_031885.5(BBS2):c.1118A>G (p.His373Arg)
|
rs886052146
|
|
NM_031885.5(BBS2):c.118-16_118-13del
|
rs758674101
|
|
NM_031885.5(BBS2):c.1397+7C>A
|
rs771297840
|
|
NM_031885.5(BBS2):c.152A>G (p.His51Arg)
|
rs1964682368
|
|
NM_031885.5(BBS2):c.1697A>G (p.Asp566Gly)
|
rs1964156754
|
|
NM_031885.5(BBS2):c.1895G>A (p.Arg632His)
|
rs138043021
|
|
NM_031885.5(BBS2):c.1902G>T (p.Met634Ile)
|
rs886052145
|
|
NM_031885.5(BBS2):c.247T>C (p.Leu83=)
|
rs1567584842
|
|
NM_031885.5(BBS2):c.266A>G (p.Tyr89Cys)
|
rs560910758
|
|
NM_031885.5(BBS2):c.634A>G (p.Met212Val)
|
rs886052148
|
|
NM_031885.5(BBS2):c.766G>A (p.Gly256Arg)
|
rs886052147
|
|
NM_033028.5(BBS4):c.*159A>G
|
rs2065955405
|
|
NM_033028.5(BBS4):c.*608G>T
|
rs12898814
|
|
NM_033028.5(BBS4):c.*883C>T
|
rs886051470
|
|
NM_033028.5(BBS4):c.1376A>G (p.Gln459Arg)
|
rs766535822
|
|
NM_033028.5(BBS4):c.1451-6dup
|
rs770389663
|
|
NM_033028.5(BBS4):c.1473C>G (p.Phe491Leu)
|
rs886051468
|
|
NM_033028.5(BBS4):c.220+3A>T
|
rs376143305
|
|
NM_033028.5(BBS4):c.587+1G>A
|
rs886051466
|
|
NM_144596.4(TTC8):c.*17A>G
|
rs1164204068
|
|
NM_144596.4(TTC8):c.*377C>T
|
rs1395639006
|
|
NM_144596.4(TTC8):c.*418G>A
|
rs2094963356
|
|
NM_144596.4(TTC8):c.*45A>C
|
rs1273103151
|
|
NM_144596.4(TTC8):c.-38C>A
|
rs886050876
|
|
NM_144596.4(TTC8):c.-44C>T
|
rs571786285
|
|
NM_144596.4(TTC8):c.1464G>C (p.Ala488=)
|
rs142073418
|
|
NM_144596.4(TTC8):c.1491C>T (p.Asp497=)
|
rs886050878
|
|
NM_144596.4(TTC8):c.305C>T (p.Thr102Ile)
|
rs1341297017
|
|
NM_144596.4(TTC8):c.417C>G (p.Ile139Met)
|
rs2094779029
|
|
NM_147127.5(EVC2):c.*105C>T
|
rs1722029883
|
|
NM_147127.5(EVC2):c.*141A>G
|
rs565382969
|
|
NM_147127.5(EVC2):c.-29C>A
|
rs754218861
|
|
NM_147127.5(EVC2):c.1079T>A (p.Leu360His)
|
rs774401542
|
|
NM_147127.5(EVC2):c.1154T>C (p.Ile385Thr)
|
rs780517206
|
|
NM_147127.5(EVC2):c.1498C>A (p.Arg500=)
|
rs148248777
|
|
NM_147127.5(EVC2):c.1666C>T (p.Pro556Ser)
|
rs886059491
|
|
NM_147127.5(EVC2):c.1711-11_1711-10dup
|
rs35103377
|
|
NM_147127.5(EVC2):c.2137C>G (p.Leu713Val)
|
rs143662104
|
|
NM_147127.5(EVC2):c.284-10T>G
|
rs1192584069
|
|
NM_147127.5(EVC2):c.2983C>G (p.Leu995Val)
|
rs548381022
|
|
NM_147127.5(EVC2):c.299G>A (p.Gly100Glu)
|
rs886059493
|
|
NM_147127.5(EVC2):c.3091C>G (p.Gln1031Glu)
|
rs370438593
|
|
NM_147127.5(EVC2):c.3119A>C (p.Gln1040Pro)
|
rs1722937250
|
|
NM_147127.5(EVC2):c.3229G>A (p.Ala1077Thr)
|
rs182888222
|
|
NM_147127.5(EVC2):c.3272+8G>A
|
rs201800139
|
|
NM_147127.5(EVC2):c.3289C>G (p.Gln1097Glu)
|
rs150215092
|
|
NM_147127.5(EVC2):c.3305T>C (p.Leu1102Pro)
|
rs1722816787
|
|
NM_147127.5(EVC2):c.3315G>A (p.Leu1105=)
|
rs1006097259
|
|
NM_147127.5(EVC2):c.3911C>T (p.Ala1304Val)
|
rs1722037682
|
|
NM_147127.5(EVC2):c.427G>A (p.Glu143Lys)
|
rs1721325369
|
|
NM_147127.5(EVC2):c.597C>T (p.Asn199=)
|
rs1003816966
|
|
NM_147127.5(EVC2):c.857A>G (p.Glu286Gly)
|
rs1720323516
|
|
NM_147127.5(EVC2):c.889C>G (p.Leu297Val)
|
rs886059492
|
|
NM_147127.5(EVC2):c.903G>T (p.Gly301=)
|
rs745889694
|
|
NM_152259.4(TICRR):c.*911dup
|
rs113145397
|
|
NM_152618.3(BBS12):c.*484A>G
|
rs886059060
|
|
NM_152618.3(BBS12):c.*582G>T
|
rs182880657
|
|
NM_152618.3(BBS12):c.*828A>C
|
rs749924505
|
|
NM_152618.3(BBS12):c.*854C>A
|
rs886059061
|
|
NM_152618.3(BBS12):c.*859T>A
|
rs886059062
|
|
NM_152618.3(BBS12):c.*860G>A
|
rs1800965519
|
|
NM_152618.3(BBS12):c.*907T>C
|
rs1800966295
|
|
NM_152618.3(BBS12):c.-102C>T
|
rs1578483694
|
|
NM_152618.3(BBS12):c.1100dup (p.Tyr367Ter)
|
rs1560707645
|
|
NM_152618.3(BBS12):c.1227G>A (p.Val409=)
|
rs1800914880
|
|
NM_152618.3(BBS12):c.1277G>A (p.Cys426Tyr)
|
rs886059058
|
|
NM_152618.3(BBS12):c.1698A>G (p.Ser566=)
|
rs746904755
|
|
NM_152618.3(BBS12):c.2dup (p.Met1fs)
|
rs1560706193
|
|
NM_152732.5(RSPH9):c.112G>T (p.Asp38Tyr)
|
rs1770713541
|
|
NM_152732.5(RSPH9):c.146G>T (p.Arg49Leu)
|
rs1055513498
|
|
NM_152732.5(RSPH9):c.385G>A (p.Glu129Lys)
|
rs886061477
|
|
NM_152732.5(RSPH9):c.393+13G>A
|
rs551113626
|
|
NM_152732.5(RSPH9):c.648C>A (p.Ser216=)
|
rs1772078528
|
|
NM_152732.5(RSPH9):c.804G>C (p.Lys268Asn)
|
rs542453386
|
|
NM_152732.5(RSPH9):c.806A>T (p.Asn269Ile)
|
rs1773664252
|
|
NM_153240.5(NPHP3):c.*1078T>G
|
rs886057996
|
|
NM_153240.5(NPHP3):c.*1094A>G
|
rs1939005375
|
|
NM_153240.5(NPHP3):c.*1184A>T
|
rs1939002888
|
|
NM_153240.5(NPHP3):c.*121_*123del
|
rs371974858
|
|
NM_153240.5(NPHP3):c.*178T>G
|
rs1939035707
|
|
NM_153240.5(NPHP3):c.*626C>G
|
rs1156702698
|
|
NM_153240.5(NPHP3):c.*650_*651del
|
rs886058000
|
|
NM_153240.5(NPHP3):c.*652_*653del
|
rs886057999
|
|
NM_153240.5(NPHP3):c.*652del
|
rs369921629
|
|
NM_153240.5(NPHP3):c.*654dup
|
rs886057998
|
|
NM_153240.5(NPHP3):c.1118+11A>C
|
rs751629184
|
|
NM_153240.5(NPHP3):c.1524+11G>T
|
rs1939687605
|
|
NM_153240.5(NPHP3):c.1525-5del
|
rs762115717
|
|
NM_153240.5(NPHP3):c.1565C>T (p.Pro522Leu)
|
rs576089202
|
|
NM_153240.5(NPHP3):c.1777A>G (p.Thr593Ala)
|
rs373627362
|
|
NM_153240.5(NPHP3):c.1853T>C (p.Ile618Thr)
|
rs139730838
|
|
NM_153240.5(NPHP3):c.1853T>G (p.Ile618Ser)
|
rs139730838
|
|
NM_153240.5(NPHP3):c.260C>G (p.Ala87Gly)
|
rs886058005
|
|
NM_153240.5(NPHP3):c.2783A>G (p.Gln928Arg)
|
rs751790371
|
|
NM_153240.5(NPHP3):c.3125+7dup
|
rs11396595
|
|
NM_153240.5(NPHP3):c.3126-12dup
|
rs398124547
|
|
NM_153240.5(NPHP3):c.3214C>T (p.Leu1072Phe)
|
rs886058002
|
|
NM_153240.5(NPHP3):c.3286C>T (p.Leu1096Phe)
|
rs141144099
|
|
NM_153240.5(NPHP3):c.670+13C>T
|
rs202228115
|
|
NM_153240.5(NPHP3):c.913A>G (p.Ile305Val)
|
rs886058004
|
|
NM_153704.5(TMEM67):c.*1676C>T
|
rs190176192
|
|
NM_153704.6(TMEM67):c.*1099A>G
|
rs1808956444
|
|
NM_153704.6(TMEM67):c.*1434T>C
|
rs886063178
|
|
NM_153704.6(TMEM67):c.*218T>C
|
rs886063175
|
|
NM_153704.6(TMEM67):c.*25C>T
|
rs1808912343
|
|
NM_153704.6(TMEM67):c.*300G>A
|
rs886063176
|
|
NM_153704.6(TMEM67):c.*512T>C
|
rs570774838
|
|
NM_153704.6(TMEM67):c.*580A>G
|
rs995505639
|
|
NM_153704.6(TMEM67):c.119CTTTCC[3] (p.Pro42_Phe43dup)
|
rs886063171
|
|
NM_153704.6(TMEM67):c.137C>T (p.Pro46Leu)
|
rs199708882
|
|
NM_153704.6(TMEM67):c.1700A>C (p.Tyr567Ser)
|
rs148726767
|
|
NM_153704.6(TMEM67):c.2086C>T (p.Leu696Phe)
|
rs863225238
|
|
NM_153704.6(TMEM67):c.2242-7G>A
|
rs761170798
|
|
NM_153704.6(TMEM67):c.2556+5G>C
|
rs886063172
|
|
NM_153704.6(TMEM67):c.2570C>G (p.Ala857Gly)
|
rs201393025
|
|
NM_153704.6(TMEM67):c.2764+10A>T
|
rs900677485
|
|
NM_153704.6(TMEM67):c.282T>C (p.Ala94=)
|
rs1812547702
|
|
NM_153704.6(TMEM67):c.77T>C (p.Leu26Pro)
|
rs886063170
|
|
NM_153717.3(EVC):c.*1019A>C
|
rs13147919
|
|
NM_153717.3(EVC):c.*1073C>T
|
rs1271610715
|
|
NM_153717.3(EVC):c.*1176C>A
|
rs13121710
|
|
NM_153717.3(EVC):c.*1199G>A
|
rs1315669218
|
|
NM_153717.3(EVC):c.*1257G>T
|
rs1013315409
|
|
NM_153717.3(EVC):c.*1277A>C
|
rs1259649075
|
|
NM_153717.3(EVC):c.*1314G>A
|
rs567979829
|
|
NM_153717.3(EVC):c.*1338C>T
|
rs1717063885
|
|
NM_153717.3(EVC):c.*1394T>C
|
rs1375474161
|
|
NM_153717.3(EVC):c.*1395C>T
|
rs886059513
|
|
NM_153717.3(EVC):c.*1428C>G
|
rs574764934
|
|
NM_153717.3(EVC):c.*1439C>T
|
rs188270163
|
|
NM_153717.3(EVC):c.*1512T>C
|
rs576620294
|
|
NM_153717.3(EVC):c.*1515A>T
|
rs545639856
|
|
NM_153717.3(EVC):c.*1545T>G
|
rs1328816482
|
|
NM_153717.3(EVC):c.*1845del
|
rs397690241
|
|
NM_153717.3(EVC):c.*2303T>A
|
rs915952245
|
|
NM_153717.3(EVC):c.*2349T>C
|
rs886059517
|
|
NM_153717.3(EVC):c.*2468C>G
|
rs1717227616
|
|
NM_153717.3(EVC):c.*2490C>G
|
rs145238482
|
|
NM_153717.3(EVC):c.*2490C>T
|
rs145238482
|
|
NM_153717.3(EVC):c.*2692G>A
|
rs149155153
|
|
NM_153717.3(EVC):c.*274C>G
|
rs758225073
|
|
NM_153717.3(EVC):c.*3046G>C
|
rs934986465
|
|
NM_153717.3(EVC):c.*3121C>G
|
rs1717320370
|
|
NM_153717.3(EVC):c.*367C>T
|
rs886059510
|
|
NM_153717.3(EVC):c.*3T>G
|
rs368249789
|
|
NM_153717.3(EVC):c.*582C>A
|
rs1716916256
|
|
NM_153717.3(EVC):c.*619C>G
|
rs1716921490
|
|
NM_153717.3(EVC):c.*704_*705insTT
|
rs886059511
|
|
NM_153717.3(EVC):c.*798T>G
|
rs13101313
|
|
NM_153717.3(EVC):c.*844C>G
|
rs1180694671
|
|
NM_153717.3(EVC):c.*877C>T
|
rs886059512
|
|
NM_153717.3(EVC):c.*956C>G
|
rs761012202
|
|
NM_153717.3(EVC):c.*967T>G
|
rs182343325
|
|
NM_153717.3(EVC):c.*995T>A
|
rs71599846
|
|
NM_153717.3(EVC):c.-138GA[1]
|
rs886059494
|
|
NM_153717.3(EVC):c.1145T>C (p.Ile382Thr)
|
rs886059505
|
|
NM_153717.3(EVC):c.1258G>A (p.Glu420Lys)
|
rs373502728
|
|
NM_153717.3(EVC):c.1346C>A (p.Thr449Lys)
|
rs2302075
|
|
NM_153717.3(EVC):c.1465-5C>T
|
rs1731155996
|
|
NM_153717.3(EVC):c.147C>T (p.Arg49=)
|
rs1723020172
|
|
NM_153717.3(EVC):c.1528G>A (p.Val510Ile)
|
rs143971158
|
|
NM_153717.3(EVC):c.1589C>T (p.Thr530Ile)
|
rs1735956373
|
|
NM_153717.3(EVC):c.1696G>A (p.Ala566Thr)
|
rs144943762
|
|
NM_153717.3(EVC):c.1727G>A (p.Arg576Gln)
|
rs1383180
|
|
NM_153717.3(EVC):c.1765C>G (p.Gln589Glu)
|
rs1736003818
|
|
NM_153717.3(EVC):c.1854C>T (p.Gly618=)
|
rs11737221
|
|
NM_153717.3(EVC):c.2104C>T (p.Arg702Cys)
|
rs545087909
|
|
NM_153717.3(EVC):c.2143C>G (p.Gln715Glu)
|
rs971647538
|
|
NM_153717.3(EVC):c.2391C>T (p.Ile797=)
|
rs202236029
|
|
NM_153717.3(EVC):c.2415G>T (p.Glu805Asp)
|
rs886059506
|
|
NM_153717.3(EVC):c.2441C>T (p.Thr814Ile)
|
rs1715104252
|
|
NM_153717.3(EVC):c.2449+15del
|
rs398092136
|
|
NM_153717.3(EVC):c.2449+8del
|
rs886059507
|
|
NM_153717.3(EVC):c.248C>T (p.Ser83Leu)
|
rs886059495
|
|
NM_153717.3(EVC):c.2562-4C>G
|
rs60082311
|
|
NM_153717.3(EVC):c.2894+13C>T
|
rs886059508
|
|
NM_153717.3(EVC):c.2895-10_2895-9del
|
rs371125826
|
|
NM_153717.3(EVC):c.2930G>A (p.Gly977Glu)
|
rs749142395
|
|
NM_153717.3(EVC):c.612C>T (p.Cys204=)
|
rs553634958
|
|
NM_153717.3(EVC):c.83T>C (p.Leu28Pro)
|
rs1256100832
|
|
NM_170784.3(MKKS):c.-159A>C
|
rs566532177
|
|
NM_170784.3(MKKS):c.-21C>G
|
rs886056498
|
|
NM_170784.3(MKKS):c.-39A>C
|
rs886056499
|
|
NM_170784.3(MKKS):c.-406G>C
|
rs886056500
|
|
NM_170784.3(MKKS):c.-417-13dup
|
rs528193828
|
|
NM_170784.3(MKKS):c.-649+2202_-649+2204dup
|
rs143825746
|
|
NM_170784.3(MKKS):c.-649+2238A>T
|
rs541967798
|
|
NM_170784.3(MKKS):c.-649+2292del
|
rs566962031
|
|
NM_170784.3(MKKS):c.1307A>G (p.Asp436Gly)
|
rs746696111
|
|
NM_170784.3(MKKS):c.1307A>T (p.Asp436Val)
|
rs746696111
|
|
NM_170784.3(MKKS):c.1474G>A (p.Asp492Asn)
|
rs142327258
|
|
NM_170784.3(MKKS):c.1598C>T (p.Ser533Leu)
|
rs2064834350
|
|
NM_170784.3(MKKS):c.1670A>G (p.Asn557Ser)
|
rs554429487
|
|
NM_170784.3(MKKS):c.1702G>C (p.Asp568His)
|
rs886056497
|
|
NM_170784.3(MKKS):c.180C>T (p.Ser60=)
|
rs2064909876
|
|
NM_170784.3(MKKS):c.329G>T (p.Gly110Val)
|
rs2064907691
|
|
NM_170784.3(MKKS):c.82G>C (p.Val28Leu)
|
rs368653529
|
|
NM_176824.3(BBS7):c.*1161A>G
|
rs918127402
|
|
NM_176824.3(BBS7):c.*1209_*1211del
|
rs886059048
|
|
NM_176824.3(BBS7):c.*273T>C
|
rs190252263
|
|
NM_176824.3(BBS7):c.*304A>C
|
rs886059052
|
|
NM_176824.3(BBS7):c.*729del
|
rs3217754
|
|
NM_176824.3(BBS7):c.*828A>G
|
rs879827169
|
|
NM_176824.3(BBS7):c.-98C>T
|
rs546649349
|
|
NM_176824.3(BBS7):c.11T>C (p.Ile4Thr)
|
rs542274936
|
|
NM_176824.3(BBS7):c.1458C>A (p.Tyr486Ter)
|
rs1470030897
|
|
NM_176824.3(BBS7):c.1486A>G (p.Arg496Gly)
|
rs1560643809
|
|
NM_176824.3(BBS7):c.1851G>C (p.Leu617Phe)
|
rs1725011147
|
|
NM_176824.3(BBS7):c.1890+15C>T
|
rs761350391
|
|
NM_176824.3(BBS7):c.1891-2A>C
|
rs1057519027
|
|
NM_176824.3(BBS7):c.331A>T (p.Ile111Phe)
|
rs1726975256
|
|
NM_176824.3(BBS7):c.487C>T (p.Pro163Ser)
|
rs370690441
|
|
NM_176824.3(BBS7):c.587A>G (p.His196Arg)
|
rs886059054
|
|
NM_176824.3(BBS7):c.600C>T (p.Gly200=)
|
rs370053625
|
|
NM_176824.3(BBS7):c.896A>G (p.Lys299Arg)
|
rs1726155956
|
|
NM_177976.3(ARL6):c.-371A>G
|
rs754624462
|
|
NM_178452.5(DNAAF1):c.-146G>C
|
rs886052362
|
|
NM_178452.6(DNAAF1):c.1031-11T>G
|
rs200286840
|
|
NM_178452.6(DNAAF1):c.1375G>A (p.Asp459Asn)
|
rs2088254503
|
|
NM_178452.6(DNAAF1):c.1528+13G>A
|
rs886052369
|
|
NM_178452.6(DNAAF1):c.1573G>A (p.Glu525Lys)
|
rs886052370
|
|
NM_178452.6(DNAAF1):c.1728C>T (p.Ile576=)
|
rs886052371
|
|
NM_178452.6(DNAAF1):c.181C>G (p.Gln61Glu)
|
rs886052366
|
|
NM_178452.6(DNAAF1):c.2061_2063dup (p.Pro688dup)
|
rs776738547
|
|
NM_178452.6(DNAAF1):c.223G>A (p.Ala75Thr)
|
rs200440212
|
|
NM_178452.6(DNAAF1):c.312T>G (p.Ile104Met)
|
rs372390124
|
|
NM_178452.6(DNAAF1):c.362G>A (p.Arg121His)
|
rs34897947
|
|
NM_178452.6(DNAAF1):c.514C>G (p.Leu172Val)
|
rs886052367
|
|
NM_178452.6(DNAAF1):c.65C>T (p.Pro22Leu)
|
rs923568355
|
|
NM_178452.6(DNAAF1):c.684G>A (p.Ser228=)
|
rs200109125
|
|
NM_178452.6(DNAAF1):c.733C>T (p.Pro245Ser)
|
rs747310581
|
|
NM_178452.6(DNAAF1):c.995A>C (p.Glu332Ala)
|
rs886052368
|
|
NM_181426.1(CCDC39):c.-111C>T
|
rs769812639
|
|
NM_181426.2(CCDC39):c.*161T>A
|
rs886058195
|
|
NM_181426.2(CCDC39):c.*325C>A
|
rs73883902
|
|
NM_181426.2(CCDC39):c.*373G>A
|
rs537322164
|
|
NM_181426.2(CCDC39):c.*529_*530insACC
|
rs886058193
|
|
NM_181426.2(CCDC39):c.*529dup
|
rs1553800565
|
|
NM_181426.2(CCDC39):c.*530_*532dup
|
rs886058192
|
|
NM_181426.2(CCDC39):c.*531_*532dup
|
rs886058192
|
|
NM_181426.2(CCDC39):c.*532dup
|
rs886058192
|
|
NM_181426.2(CCDC39):c.*533A>C
|
rs1199364753
|
|
NM_181426.2(CCDC39):c.*538A>C
|
rs1275919577
|
|
NM_181426.2(CCDC39):c.*539C>A
|
rs886058191
|
|
NM_181426.2(CCDC39):c.*545dup
|
rs886058190
|
|
NM_181426.2(CCDC39):c.*802AGT[1]
|
rs886058189
|
|
NM_181426.2(CCDC39):c.1285T>C (p.Ser429Pro)
|
rs1718118993
|
|
NM_181426.2(CCDC39):c.1359C>A (p.Ser453Arg)
|
rs6769457
|
|
NM_181426.2(CCDC39):c.1363-13del
|
rs374074877
|
|
NM_181426.2(CCDC39):c.1363-23dup
|
rs374074877
|
|
NM_181426.2(CCDC39):c.2152C>T (p.Pro718Ser)
|
rs1292113274
|
|
NM_181426.2(CCDC39):c.2357G>T (p.Ser786Ile)
|
rs1051907452
|
|
NM_181426.2(CCDC39):c.2358_2359del (p.Ser786fs)
|
rs1157054989
|
|
NM_181426.2(CCDC39):c.2407-8A>T
|
rs769021943
|
|
NM_181426.2(CCDC39):c.2408G>A (p.Cys803Tyr)
|
rs561458801
|
|
NM_181426.2(CCDC39):c.2526A>G (p.Leu842=)
|
rs1717252361
|
|
NM_181426.2(CCDC39):c.2715A>G (p.Lys905=)
|
rs886058198
|
|
NM_181426.2(CCDC39):c.2800G>A (p.Val934Ile)
|
rs886058197
|
|
NM_181426.2(CCDC39):c.307C>T (p.Arg103Trp)
|
rs61733582
|
|
NM_181426.2(CCDC39):c.425C>T (p.Ala142Val)
|
rs1711721023
|
|
NM_181426.2(CCDC39):c.516+11A>T
|
rs1436542350
|
|
NM_181426.2(CCDC39):c.640C>T (p.Arg214Cys)
|
rs749794148
|
|
NM_181426.2(CCDC39):c.654T>C (p.Asn218=)
|
rs886058199
|
|
NM_181426.2(CCDC39):c.830_831del (p.Thr277fs)
|
rs773801386
|
|
NM_198428.3(BBS9):c.*323A>G
|
rs1864473091
|
|
NM_198428.3(BBS9):c.*729C>T
|
rs1864525540
|
|
NM_198428.3(BBS9):c.*778_*780dup
|
rs886062289
|
|
NM_198428.3(BBS9):c.-228T>G
|
rs771734972
|
|
NM_198428.3(BBS9):c.-37dup
|
rs886062282
|
|
NM_198428.3(BBS9):c.-408T>G
|
rs886062279
|
|
NM_198428.3(BBS9):c.-456G>A
|
rs886062277
|
|
NM_198428.3(BBS9):c.1052A>T (p.Asp351Val)
|
rs1815378459
|
|
NM_198428.3(BBS9):c.1130A>G (p.Asn377Ser)
|
rs886062285
|
|
NM_198428.3(BBS9):c.1535C>T (p.Thr512Ile)
|
rs886062286
|
|
NM_198428.3(BBS9):c.1812del (p.Glu604fs)
|
rs1229015450
|
|
NM_198428.3(BBS9):c.1870_1872del (p.Phe624del)
|
rs1302171532
|
|
NM_198428.3(BBS9):c.1923C>A (p.Pro641=)
|
rs886062287
|
|
NM_198428.3(BBS9):c.2044G>A (p.Ala682Thr)
|
rs772347593
|
|
NM_198428.3(BBS9):c.2404C>T (p.Pro802Ser)
|
rs886062288
|
|
NM_198428.3(BBS9):c.385C>T (p.His129Tyr)
|
rs886062284
|
|
NM_198525.3(KIF7):c.*133G>T
|
rs762353041
|
|
NM_198525.3(KIF7):c.*191T>A
|
rs559070002
|
|
NM_198525.3(KIF7):c.*381G>A
|
rs138875667
|
|
NM_198525.3(KIF7):c.-68G>A
|
rs537046990
|
|
NM_198525.3(KIF7):c.-75G>A
|
rs886051545
|
|
NM_198525.3(KIF7):c.1221C>T (p.Ala407=)
|
rs886051535
|
|
NM_198525.3(KIF7):c.1319T>A (p.Val440Glu)
|
rs1964055538
|
|
NM_198525.3(KIF7):c.1358C>T (p.Ala453Val)
|
rs886051532
|
|
NM_198525.3(KIF7):c.175G>C (p.Val59Leu)
|
rs369404071
|
|
NM_198525.3(KIF7):c.1832A>G (p.Glu611Gly)
|
rs993149094
|
|
NM_198525.3(KIF7):c.195G>C (p.Ala65=)
|
rs8179066
|
|
NM_198525.3(KIF7):c.2059C>A (p.Arg687=)
|
rs138736028
|
|
NM_198525.3(KIF7):c.2079C>T (p.Val693=)
|
rs113112856
|
|
NM_198525.3(KIF7):c.2235C>T (p.Ile745=)
|
rs886051531
|
|
NM_198525.3(KIF7):c.2296C>G (p.Leu766Val)
|
rs1439862748
|
|
NM_198525.3(KIF7):c.2337G>A (p.Glu779=)
|
rs202089770
|
|
NM_198525.3(KIF7):c.2341T>C (p.Ser781Pro)
|
rs886051530
|
|
NM_198525.3(KIF7):c.2421G>A (p.Thr807=)
|
rs141497185
|
|
NM_198525.3(KIF7):c.2592+11C>A
|
rs78199895
|
|
NM_198525.3(KIF7):c.2592+11C>T
|
rs78199895
|
|
NM_198525.3(KIF7):c.2599G>T (p.Glu867Ter)
|
rs1328669185
|
|
NM_198525.3(KIF7):c.259A>G (p.Asn87Asp)
|
rs147947221
|
|
NM_198525.3(KIF7):c.2748C>G (p.Asp916Glu)
|
rs746321431
|
|
NM_198525.3(KIF7):c.2776C>T (p.Arg926Trp)
|
rs147407072
|
|
NM_198525.3(KIF7):c.2862G>C (p.Thr954=)
|
rs1436327620
|
|
NM_198525.3(KIF7):c.3319-13G>A
|
rs371154050
|
|
NM_198525.3(KIF7):c.3345C>G (p.His1115Gln)
|
rs142032413
|
|
NM_198525.3(KIF7):c.3519C>T (p.Asp1173=)
|
rs778389919
|
|
NM_198525.3(KIF7):c.3637G>A (p.Gly1213Ser)
|
rs143316368
|
|
NM_198525.3(KIF7):c.3992C>G (p.Ala1331Gly)
|
rs1363015734
|
|
NM_198525.3(KIF7):c.405C>A (p.Asp135Glu)
|
rs886051543
|
|
NM_198525.3(KIF7):c.418C>T (p.Leu140=)
|
rs756117745
|
|
NM_198525.3(KIF7):c.479G>A (p.Gly160Asp)
|
rs1432505645
|
|
NM_198525.3(KIF7):c.960G>A (p.Thr320=)
|
rs886051538
|
|
NM_213607.2(CCDC103):c.-150A>G
|
rs886053011
|
|
NM_213607.3(CCDC103):c.*584G>A
|
rs1263335251
|
|
NM_213607.3(CCDC103):c.-113G>A
|
rs148582322
|
|
NM_213607.3(CCDC103):c.-74G>C
|
rs886053012
|
|
NM_213607.3(CCDC103):c.606C>A (p.Gly202=)
|
rs763062802
|
|