NM_015272.5(RPGRIP1L):c.*491C>G
|
rs35669682
|
0.00564
|
NM_015272.5(RPGRIP1L):c.*1627G>A
|
rs188203905
|
0.00522
|
NM_001044385.3(TMEM237):c.*962A>C
|
rs142403941
|
0.00484
|
NM_001044385.3(TMEM237):c.*969A>G
|
rs137925244
|
0.00484
|
NM_001128178.3(NPHP1):c.*194T>C
|
rs189472793
|
0.00318
|
NM_018718.3(CEP41):c.*2116T>C
|
rs190709953
|
0.00306
|
NM_018718.3(CEP41):c.*593G>A
|
rs186685101
|
0.00290
|
NM_018718.3(CEP41):c.*4322G>A
|
rs538898722
|
0.00283
|
NM_018718.3(CEP41):c.*1974A>G
|
rs185337247
|
0.00220
|
NM_018718.3(CEP41):c.616C>G (p.Pro206Ala)
|
rs143303575
|
0.00218
|
NM_015272.5(RPGRIP1L):c.*1385A>G
|
rs150194508
|
0.00201
|
NM_018718.3(CEP41):c.*3274G>A
|
rs112007936
|
0.00199
|
NM_015272.5(RPGRIP1L):c.*1461A>T
|
rs184079732
|
0.00195
|
NM_001128178.3(NPHP1):c.1270-4C>T
|
rs151204566
|
0.00181
|
NM_018718.3(CEP41):c.*1056A>C
|
rs574982700
|
0.00170
|
NM_001044385.3(TMEM237):c.*308T>G
|
rs185380807
|
0.00163
|
NM_001044385.3(TMEM237):c.348G>A (p.Ala116=)
|
rs191125006
|
0.00163
|
NM_018718.3(CEP41):c.*5068G>A
|
rs148856430
|
0.00163
|
NM_018718.3(CEP41):c.*740C>T
|
rs553917711
|
0.00161
|
NM_001044385.3(TMEM237):c.*3855A>G
|
rs187328136
|
0.00156
|
NM_015272.5(RPGRIP1L):c.2153-4G>C
|
rs201380599
|
0.00156
|
NM_018718.3(CEP41):c.20T>C (p.Ile7Thr)
|
rs147494464
|
0.00152
|
NM_001134831.2(AHI1):c.*1404A>G
|
rs149288894
|
0.00148
|
NM_015272.5(RPGRIP1L):c.-9C>T
|
rs779839225
|
0.00143
|
NM_001044385.3(TMEM237):c.*1382C>T
|
rs187040024
|
0.00140
|
NM_001044385.3(TMEM237):c.*3728A>G
|
rs555315551
|
0.00140
|
NM_001128178.3(NPHP1):c.*250C>T
|
rs150558683
|
0.00139
|
NM_018718.3(CEP41):c.*2389G>A
|
rs73152867
|
0.00138
|
NM_001044385.3(TMEM237):c.97C>T (p.Arg33Cys)
|
rs200714434
|
0.00136
|
NM_001128178.3(NPHP1):c.232T>C (p.Tyr78His)
|
rs140446520
|
0.00127
|
NM_018718.3(CEP41):c.*4216C>T
|
rs187549864
|
0.00117
|
NM_001134831.2(AHI1):c.*1288T>C
|
rs886061103
|
0.00111
|
NM_001134831.2(AHI1):c.986G>T (p.Arg329Leu)
|
rs139944375
|
0.00111
|
NM_015272.5(RPGRIP1L):c.*1482G>A
|
rs192765976
|
0.00108
|
NM_001134831.2(AHI1):c.3503A>G (p.Glu1168Gly)
|
rs199578341
|
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_018718.3(CEP41):c.*4244C>G
|
rs544508687
|
0.00096
|
NM_015272.5(RPGRIP1L):c.1156A>G (p.Lys386Glu)
|
rs137982921
|
0.00094
|
NM_001128178.3(NPHP1):c.953C>T (p.Thr318Ile)
|
rs140469160
|
0.00088
|
NM_018718.3(CEP41):c.*3541G>A
|
rs376434190
|
0.00088
|
NM_015272.5(RPGRIP1L):c.2240G>A (p.Arg747Gln)
|
rs142349647
|
0.00085
|
NM_018718.3(CEP41):c.*680G>A
|
rs146622910
|
0.00083
|
NM_018718.3(CEP41):c.*4908G>A
|
rs552988501
|
0.00080
|
NM_015272.5(RPGRIP1L):c.*1510G>A
|
rs140374059
|
0.00079
|
NM_001134831.2(AHI1):c.*1146T>A
|
rs557989991
|
0.00076
|
NM_015272.5(RPGRIP1L):c.*1309C>A
|
rs145688896
|
0.00068
|
NM_015272.5(RPGRIP1L):c.3624C>T (p.Tyr1208=)
|
rs138724933
|
0.00063
|
NM_015272.5(RPGRIP1L):c.3706C>T (p.Arg1236Cys)
|
rs151332923
|
0.00061
|
NM_015272.5(RPGRIP1L):c.251G>A (p.Arg84Gln)
|
rs151212590
|
0.00060
|
NM_018718.3(CEP41):c.*1646G>A
|
rs187513408
|
0.00059
|
NM_015272.5(RPGRIP1L):c.*1584G>T
|
rs151226475
|
0.00057
|
NM_015272.5(RPGRIP1L):c.3562G>A (p.Val1188Met)
|
rs142317242
|
0.00052
|
NM_001044385.3(TMEM237):c.*1655G>A
|
rs1020619947
|
0.00051
|
NM_015272.5(RPGRIP1L):c.-62C>T
|
rs562413151
|
0.00048
|
NM_018718.3(CEP41):c.*1981G>A
|
rs538682192
|
0.00047
|
NM_015272.5(RPGRIP1L):c.3312C>T (p.Pro1104=)
|
rs568801926
|
0.00046
|
NM_001044385.3(TMEM237):c.*2960C>A
|
rs188637429
|
0.00045
|
NM_015272.5(RPGRIP1L):c.1085A>G (p.Tyr362Cys)
|
rs144023021
|
0.00042
|
NM_018718.3(CEP41):c.*3097T>C
|
rs929238589
|
0.00042
|
NM_001044385.3(TMEM237):c.*2141C>T
|
rs147652455
|
0.00041
|
NM_001134831.2(AHI1):c.989A>G (p.Asp330Gly)
|
rs200201741
|
0.00041
|
NM_018718.3(CEP41):c.*1385T>G
|
rs781845516
|
0.00040
|
NM_001044385.3(TMEM237):c.*3517A>G
|
rs563749617
|
0.00039
|
NM_001128178.3(NPHP1):c.801G>A (p.Thr267=)
|
rs141763330
|
0.00039
|
NM_015272.5(RPGRIP1L):c.*270G>A
|
rs549065732
|
0.00039
|
NM_001134831.2(AHI1):c.3535G>T (p.Asp1179Tyr)
|
rs188583221
|
0.00037
|
NM_015272.5(RPGRIP1L):c.*532T>C
|
rs184520009
|
0.00037
|
NM_001044385.3(TMEM237):c.475A>G (p.Thr159Ala)
|
rs199500256
|
0.00034
|
NM_001128178.3(NPHP1):c.1469G>A (p.Arg490Lys)
|
rs149887461
|
0.00033
|
NM_015272.5(RPGRIP1L):c.1810G>A (p.Glu604Lys)
|
rs143863631
|
0.00033
|
NM_015272.5(RPGRIP1L):c.2682A>G (p.Ser894=)
|
rs141608712
|
0.00033
|
NM_018718.3(CEP41):c.*4599A>G
|
rs753024852
|
0.00033
|
NM_001044385.3(TMEM237):c.*1008A>G
|
rs777244164
|
0.00032
|
NM_015272.5(RPGRIP1L):c.171G>T (p.Leu57Phe)
|
rs146925098
|
0.00031
|
NM_001134831.2(AHI1):c.2382A>G (p.Lys794=)
|
rs191682790
|
0.00030
|
NM_015272.5(RPGRIP1L):c.1682G>A (p.Arg561His)
|
rs147366111
|
0.00030
|
NM_018718.3(CEP41):c.*805A>G
|
rs145808545
|
0.00030
|
NM_001134831.2(AHI1):c.*793A>G
|
rs191324834
|
0.00029
|
NM_001044385.3(TMEM237):c.*987C>T
|
rs568084746
|
0.00027
|
NM_001044385.3(TMEM237):c.439G>A (p.Val147Ile)
|
rs200531617
|
0.00026
|
NM_015272.5(RPGRIP1L):c.*851C>A
|
rs138437010
|
0.00026
|
NM_015272.5(RPGRIP1L):c.2399A>C (p.Asn800Thr)
|
rs147734438
|
0.00026
|
NM_015272.5(RPGRIP1L):c.*698T>C
|
rs545786772
|
0.00025
|
NM_018718.3(CEP41):c.*4973C>T
|
rs760160179
|
0.00025
|
NM_018718.3(CEP41):c.988G>C (p.Ala330Pro)
|
rs368525533
|
0.00025
|
NM_015272.5(RPGRIP1L):c.628A>G (p.Asn210Asp)
|
rs146584570
|
0.00024
|
NM_018718.3(CEP41):c.*2226G>A
|
rs115431091
|
0.00024
|
NM_001128178.3(NPHP1):c.771+89A>G
|
rs139787582
|
0.00023
|
NM_015272.5(RPGRIP1L):c.*506T>G
|
rs778362441
|
0.00022
|
NM_018718.3(CEP41):c.*1341A>C
|
rs782742227
|
0.00022
|
NM_015272.5(RPGRIP1L):c.1736A>G (p.Tyr579Cys)
|
rs148230131
|
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_001128178.3(NPHP1):c.867A>G (p.Gln289=)
|
rs371112962
|
0.00019
|
NM_018718.3(CEP41):c.*2781A>G
|
rs782043938
|
0.00019
|
NM_018718.3(CEP41):c.*4391G>A
|
rs782450438
|
0.00019
|
NM_001128178.3(NPHP1):c.1721C>T (p.Ser574Leu)
|
rs138181219
|
0.00018
|
NM_001044385.3(TMEM237):c.183C>T (p.Pro61=)
|
rs372100073
|
0.00017
|
NM_001044385.3(TMEM237):c.*3123T>A
|
rs866645983
|
0.00016
|
NM_001044385.3(TMEM237):c.869+10A>G
|
rs376868416
|
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_015272.5(RPGRIP1L):c.3616+7A>G
|
rs373003699
|
0.00016
|
NM_018718.3(CEP41):c.*2786A>C
|
rs782016580
|
0.00016
|
NM_018718.3(CEP41):c.*705G>A
|
rs782543502
|
0.00016
|
NM_001134831.2(AHI1):c.2222A>G (p.Asp741Gly)
|
rs369869567
|
0.00015
|
NM_001134831.2(AHI1):c.189+12T>C
|
rs199617785
|
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_018718.3(CEP41):c.*1328T>A
|
rs782132652
|
0.00014
|
NM_018718.3(CEP41):c.*4714T>C
|
rs782085608
|
0.00014
|
NM_001134831.2(AHI1):c.2962-3T>C
|
rs369713977
|
0.00013
|
NM_001044385.3(TMEM237):c.*1151C>T
|
rs188943302
|
0.00012
|
NM_001044385.3(TMEM237):c.499A>G (p.Thr167Ala)
|
rs781571059
|
0.00011
|
NM_015272.5(RPGRIP1L):c.*588A>G
|
rs894081042
|
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_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_015272.5(RPGRIP1L):c.*1207G>A
|
rs561880798
|
0.00010
|
NM_018718.3(CEP41):c.422+6C>T
|
rs199678365
|
0.00010
|
NM_000272.3(NPHP1):c.-54C>T
|
rs777453061
|
0.00009
|
NM_001044385.3(TMEM237):c.*492T>C
|
rs530304720
|
0.00009
|
NM_001044385.3(TMEM237):c.-61G>A
|
rs571550977
|
0.00009
|
NM_001134831.2(AHI1):c.400C>T (p.Pro134Ser)
|
rs368077581
|
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_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_000272.4(NPHP1):c.*460T>A
|
rs960612307
|
0.00008
|
NM_015272.5(RPGRIP1L):c.292G>A (p.Gly98Ser)
|
rs202124667
|
0.00008
|
NM_018718.3(CEP41):c.*3965A>G
|
rs781992723
|
0.00008
|
NM_001134831.2(AHI1):c.1694G>A (p.Arg565His)
|
rs372894716
|
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_018718.3(CEP41):c.*1284A>G
|
rs376297063
|
0.00007
|
NM_001044385.3(TMEM237):c.*1560C>T
|
rs983166297
|
0.00006
|
NM_001044385.3(TMEM237):c.*3992A>G
|
rs768173661
|
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_015272.5(RPGRIP1L):c.*1276G>A
|
rs375800554
|
0.00006
|
NM_015272.5(RPGRIP1L):c.*418G>A
|
rs886052090
|
0.00006
|
NM_015272.5(RPGRIP1L):c.*980T>C
|
rs886052087
|
0.00006
|
NM_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_001044385.3(TMEM237):c.*3385C>T
|
rs374762322
|
0.00005
|
NM_001128178.3(NPHP1):c.1932C>T (p.Gly644=)
|
rs200631256
|
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_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_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_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_015272.5(RPGRIP1L):c.3882A>G (p.Val1294=)
|
rs759935029
|
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_001044385.3(TMEM237):c.*3697G>A
|
rs761856568
|
0.00003
|
NM_001044385.3(TMEM237):c.396-13G>A
|
rs570600190
|
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_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.3769G>A (p.Val1257Met)
|
rs536037779
|
0.00003
|
NM_015272.5(RPGRIP1L):c.3839T>C (p.Phe1280Ser)
|
rs377402117
|
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_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_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_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_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_001128178.3(NPHP1):c.*322A>G
|
rs886054752
|
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.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.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_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_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_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.*2307A>G
|
rs1957712077
|
|
NM_001044385.3(TMEM237):c.*2448C>A
|
rs1234909902
|
|
NM_001044385.3(TMEM237):c.*2582G>T
|
rs886055439
|
|
NM_001044385.3(TMEM237):c.*2626T>C
|
rs1957709069
|
|
NM_001044385.3(TMEM237):c.*2652A>G
|
rs1957708713
|
|
NM_001044385.3(TMEM237):c.*2670C>T
|
rs1559581980
|
|
NM_001044385.3(TMEM237):c.*2682G>C
|
rs886055438
|
|
NM_001044385.3(TMEM237):c.*283A>C
|
rs886055446
|
|
NM_001044385.3(TMEM237):c.*3013A>G
|
rs886055437
|
|
NM_001044385.3(TMEM237):c.*303C>T
|
rs1957734276
|
|
NM_001044385.3(TMEM237):c.*3350A>T
|
rs561312621
|
|
NM_001044385.3(TMEM237):c.*4020T>A
|
rs886055435
|
|
NM_001044385.3(TMEM237):c.*62A>G
|
rs1957736360
|
|
NM_001044385.3(TMEM237):c.*663G>C
|
rs940503609
|
|
NM_001044385.3(TMEM237):c.*781G>A
|
rs1957729006
|
|
NM_001044385.3(TMEM237):c.*895C>G
|
rs1957727656
|
|
NM_001044385.3(TMEM237):c.*940A>C
|
rs1957727275
|
|
NM_001044385.3(TMEM237):c.-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_001128178.3(NPHP1):c.*199A>G
|
rs1679131109
|
|
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.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.*110G>A
|
rs370861733
|
|
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.*484G>A
|
rs1045439496
|
|
NM_001134831.2(AHI1):c.*981C>T
|
rs376956056
|
|
NM_001134831.2(AHI1):c.-332C>G
|
rs944668049
|
|
NM_001134831.2(AHI1):c.-53A>G
|
rs1461027288
|
|
NM_001134831.2(AHI1):c.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.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_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.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_017651.4(AHI1):c.-277G>A
|
rs886061113
|
|
NM_017651.4(AHI1):c.-284G>A
|
rs886061114
|
|
NM_017651.4(AHI1):c.-286C>G
|
rs533416517
|
|
NM_018718.3(CEP41):c.*1191G>A
|
rs781848072
|
|
NM_018718.3(CEP41):c.*1768G>T
|
rs552499760
|
|
NM_018718.3(CEP41):c.*2194C>T
|
rs886061994
|
|
NM_018718.3(CEP41):c.*2196T>C
|
rs574519929
|
|
NM_018718.3(CEP41):c.*2386A>G
|
rs886061993
|
|
NM_018718.3(CEP41):c.*2725C>T
|
rs1796651983
|
|
NM_018718.3(CEP41):c.*287C>T
|
rs1796743356
|
|
NM_018718.3(CEP41):c.*3069T>C
|
rs886061990
|
|
NM_018718.3(CEP41):c.*3708A>T
|
rs576298616
|
|
NM_018718.3(CEP41):c.*4343C>G
|
rs1554413758
|
|
NM_018718.3(CEP41):c.*4365G>A
|
rs535299613
|
|
NM_018718.3(CEP41):c.*4539C>T
|
rs1796601439
|
|
NM_018718.3(CEP41):c.*4659C>G
|
rs886061986
|
|
NM_018718.3(CEP41):c.*4866C>T
|
rs782719539
|
|
NM_018718.3(CEP41):c.-41C>T
|
rs886062002
|
|
NM_018718.3(CEP41):c.244G>T (p.Glu82Ter)
|
rs1562984087
|
|
NM_018718.3(CEP41):c.278-15A>C
|
rs142452124
|
|
NM_018718.3(CEP41):c.278-15A>T
|
rs142452124
|
|