NM_025114.4(CEP290):c.853-12_853-11insG
|
rs71082425
|
0.87640
|
NM_001023570.4(IQCB1):c.574C>T (p.Leu192=)
|
rs4543051
|
0.64838
|
NM_006642.5(SDCCAG8):c.-47T>A
|
rs3904682
|
0.41725
|
NM_006642.5(SDCCAG8):c.1725G>A (p.Glu575=)
|
rs10927011
|
0.41204
|
NM_001128178.3(NPHP1):c.654G>A (p.Glu218=)
|
rs11675767
|
0.38033
|
NM_015102.5(NPHP4):c.2802C>T (p.Arg934=)
|
rs3747992
|
0.36928
|
NM_015102.5(NPHP4):c.3570A>G (p.Glu1190=)
|
rs555164
|
0.35094
|
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_015102.5(NPHP4):c.1441+13A>G
|
rs7520105
|
0.17476
|
NM_025114.4(CEP290):c.2055T>C (p.Ala685=)
|
rs45465996
|
0.11965
|
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_001023570.4(IQCB1):c.1178T>A (p.Ile393Asn)
|
rs1141528
|
0.09226
|
NM_025114.4(CEP290):c.3710G>A (p.Arg1237His)
|
rs7307793
|
0.05381
|
NM_025114.4(CEP290):c.2512A>G (p.Lys838Glu)
|
rs11104738
|
0.05247
|
NM_015102.5(NPHP4):c.1470C>T (p.Leu490=)
|
rs12116997
|
0.04804
|
NM_015102.5(NPHP4):c.86C>T (p.Thr29Met)
|
rs12142270
|
0.04382
|
NM_025114.4(CEP290):c.2717T>G (p.Leu906Trp)
|
rs7970228
|
0.04262
|
NM_001128178.3(NPHP1):c.771+39C>T
|
rs73954628
|
0.03266
|
NM_015102.5(NPHP4):c.2724G>A (p.Ser908=)
|
rs114545322
|
0.03032
|
NM_001023570.4(IQCB1):c.-193T>C
|
rs114555283
|
0.02852
|
NM_015102.5(NPHP4):c.1631C>G (p.Ala544Gly)
|
rs12093500
|
0.02840
|
NM_001128178.3(NPHP1):c.115C>A (p.Pro39Thr)
|
rs33958626
|
0.02731
|
NM_025114.4(CEP290):c.4119A>G (p.Lys1373=)
|
rs117122459
|
0.02390
|
NM_015102.5(NPHP4):c.2219G>A (p.Arg740His)
|
rs34248917
|
0.02256
|
NM_006642.5(SDCCAG8):c.912C>T (p.Thr304=)
|
rs976529
|
0.02103
|
NM_025114.4(CEP290):c.251-10A>T
|
rs190383141
|
0.02052
|
NM_025114.4(CEP290):c.1991A>G (p.Asp664Gly)
|
rs79705698
|
0.02050
|
NM_015102.5(NPHP4):c.*314T>G
|
rs111874674
|
0.02020
|
NM_015102.5(NPHP4):c.3243G>C (p.Gly1081=)
|
rs41280800
|
0.01658
|
NM_015102.5(NPHP4):c.1611+9C>T
|
rs114900019
|
0.01637
|
NM_025114.4(CEP290):c.829G>C (p.Glu277Gln)
|
rs45502896
|
0.01608
|
NM_015102.5(NPHP4):c.2808G>A (p.Thr936=)
|
rs17028857
|
0.01235
|
NM_015102.5(NPHP4):c.*128A>C
|
rs116747881
|
0.01171
|
NM_001023570.4(IQCB1):c.1303C>T (p.Arg435Cys)
|
rs11920543
|
0.01165
|
NM_015102.5(NPHP4):c.3479C>T (p.Pro1160Leu)
|
rs113445782
|
0.01143
|
NM_001128178.3(NPHP1):c.689C>T (p.Ala230Val)
|
rs113450177
|
0.01140
|
NM_015102.5(NPHP4):c.2031C>T (p.Pro677=)
|
rs34373111
|
0.01102
|
NM_015102.5(NPHP4):c.2876G>A (p.Arg959Gln)
|
rs12084067
|
0.01099
|
NM_015102.5(NPHP4):c.1852G>A (p.Glu618Lys)
|
rs571655
|
0.01009
|
NM_015102.5(NPHP4):c.3876C>T (p.Gly1292=)
|
rs115526767
|
0.00982
|
NM_001023570.4(IQCB1):c.-178C>T
|
rs191557781
|
0.00949
|
NM_025114.4(CEP290):c.-33G>T
|
rs139415563
|
0.00894
|
NM_025114.4(CEP290):c.3465G>A (p.Leu1155=)
|
rs150138016
|
0.00815
|
NM_025114.4(CEP290):c.5199A>G (p.Gln1733=)
|
rs79644671
|
0.00740
|
NM_025114.4(CEP290):c.1624-5T>C
|
rs142742071
|
0.00704
|
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_015102.5(NPHP4):c.1442-7C>T
|
rs146078470
|
0.00599
|
NM_025114.4(CEP290):c.1558T>C (p.Phe520Leu)
|
rs147371999
|
0.00585
|
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln)
|
rs61941020
|
0.00577
|
NM_015102.5(NPHP4):c.3674C>T (p.Thr1225Met)
|
rs144624477
|
0.00576
|
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr)
|
rs117852025
|
0.00488
|
NM_015102.5(NPHP4):c.3894C>T (p.Ala1298=)
|
rs60094861
|
0.00477
|
NM_025114.4(CEP290):c.5506A>G (p.Ile1836Val)
|
rs11104729
|
0.00463
|
NM_015102.5(NPHP4):c.1705C>G (p.Gln569Glu)
|
rs113413307
|
0.00443
|
NM_015102.5(NPHP4):c.2293G>A (p.Val765Ile)
|
rs149244006
|
0.00420
|
NM_015102.5(NPHP4):c.2681A>G (p.His894Arg)
|
rs113097479
|
0.00418
|
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln)
|
rs188164241
|
0.00405
|
NM_015102.5(NPHP4):c.279+11G>A
|
rs113902159
|
0.00401
|
NM_015102.5(NPHP4):c.3329C>T (p.Ala1110Val)
|
rs139767853
|
0.00374
|
NM_025114.4(CEP290):c.1522+6C>T
|
rs148446546
|
0.00371
|
NM_015102.5(NPHP4):c.1503+10G>A
|
rs41307782
|
0.00367
|
NM_001128178.3(NPHP1):c.14G>T (p.Arg5Leu)
|
rs190983114
|
0.00366
|
NM_006642.5(SDCCAG8):c.986C>T (p.Thr329Met)
|
rs35859404
|
0.00342
|
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_001128178.3(NPHP1):c.*194T>C
|
rs189472793
|
0.00318
|
NM_015102.5(NPHP4):c.3036C>T (p.Pro1012=)
|
rs34265978
|
0.00283
|
NM_005465.7(AKT3):c.*5398_*5402dup
|
rs368945100
|
0.00273
|
NM_001023570.4(IQCB1):c.588T>C (p.Ser196=)
|
rs80015876
|
0.00267
|
NM_015102.5(NPHP4):c.1622C>T (p.Pro541Leu)
|
rs145255635
|
0.00265
|
NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys)
|
rs182369459
|
0.00241
|
NM_001023570.4(IQCB1):c.1549A>T (p.Asn517Tyr)
|
rs139468837
|
0.00237
|
NM_001128178.3(NPHP1):c.771+59G>A
|
rs143174377
|
0.00203
|
NM_015102.5(NPHP4):c.2882G>A (p.Arg961His)
|
rs183885357
|
0.00200
|
NM_025114.4(CEP290):c.251-11T>A
|
rs200666995
|
0.00198
|
NM_015102.5(NPHP4):c.2868C>T (p.Ala956=)
|
rs138025088
|
0.00188
|
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_001128178.3(NPHP1):c.1270-4C>T
|
rs151204566
|
0.00181
|
NM_015102.5(NPHP4):c.3574C>T (p.Arg1192Trp)
|
rs139022622
|
0.00172
|
NM_015102.5(NPHP4):c.4179T>A (p.Phe1393Leu)
|
rs35641267
|
0.00163
|
NM_015102.5(NPHP4):c.2519G>A (p.Ser840Asn)
|
rs147588666
|
0.00147
|
NM_025114.4(CEP290):c.1298A>G (p.Asp433Gly)
|
rs200211587
|
0.00146
|
NM_001023570.4(IQCB1):c.1441G>A (p.Glu481Lys)
|
rs140630401
|
0.00145
|
NM_001128178.3(NPHP1):c.*250C>T
|
rs150558683
|
0.00139
|
NM_025114.4(CEP290):c.3654T>C (p.Leu1218=)
|
rs201838492
|
0.00133
|
NM_001128178.3(NPHP1):c.232T>C (p.Tyr78His)
|
rs140446520
|
0.00127
|
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_015102.5(NPHP4):c.3168C>T (p.His1056=)
|
rs376351293
|
0.00121
|
NM_006642.5(SDCCAG8):c.279G>A (p.Pro93=)
|
rs145877279
|
0.00120
|
NM_015102.5(NPHP4):c.1024C>T (p.Arg342Cys)
|
rs190940697
|
0.00113
|
NM_001023570.4(IQCB1):c.*218G>A
|
rs552311575
|
0.00110
|
NM_015102.5(NPHP4):c.271T>C (p.Phe91Leu)
|
rs201065230
|
0.00109
|
NM_025114.4(CEP290):c.4476A>G (p.Glu1492=)
|
rs181248369
|
0.00106
|
NM_015102.5(NPHP4):c.2203C>T (p.Arg735Trp)
|
rs191913664
|
0.00096
|
NM_006642.5(SDCCAG8):c.572C>T (p.Thr191Ile)
|
rs150070966
|
0.00094
|
NM_025114.4(CEP290):c.4806G>A (p.Thr1602=)
|
rs201614215
|
0.00091
|
NM_001128178.3(NPHP1):c.953C>T (p.Thr318Ile)
|
rs140469160
|
0.00088
|
NM_006642.5(SDCCAG8):c.-4G>A
|
rs113193158
|
0.00083
|
NM_015102.5(NPHP4):c.2820G>A (p.Ala940=)
|
rs35575973
|
0.00078
|
NM_015102.5(NPHP4):c.2257G>A (p.Asp753Asn)
|
rs148424288
|
0.00074
|
NM_006642.5(SDCCAG8):c.-130C>A
|
rs547776191
|
0.00072
|
NM_015102.5(NPHP4):c.-90A>T
|
rs527962872
|
0.00070
|
NM_006642.5(SDCCAG8):c.267T>C (p.Ser89=)
|
rs148818431
|
0.00069
|
NM_006642.5(SDCCAG8):c.1474-6C>T
|
rs376414138
|
0.00068
|
NM_015102.5(NPHP4):c.2965G>A (p.Glu989Lys)
|
rs116606479
|
0.00068
|
NM_015102.5(NPHP4):c.4141-11C>T
|
rs139203183
|
0.00066
|
NM_015102.5(NPHP4):c.2557G>T (p.Asp853Tyr)
|
rs199875059
|
0.00064
|
NM_025114.4(CEP290):c.1670G>A (p.Arg557His)
|
rs184018899
|
0.00064
|
NM_006642.5(SDCCAG8):c.1409A>G (p.Glu470Gly)
|
rs118064970
|
0.00062
|
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_025114.4(CEP290):c.226G>A (p.Ala76Thr)
|
rs373913704
|
0.00059
|
NM_015102.4(NPHP4):c.-235G>A
|
rs765435500
|
0.00058
|
NM_025114.4(CEP290):c.7186G>T (p.Asp2396Tyr)
|
rs189556433
|
0.00058
|
NM_015102.5(NPHP4):c.7G>T (p.Asp3Tyr)
|
rs145078518
|
0.00057
|
NM_025114.4(CEP290):c.2306T>C (p.Ile769Thr)
|
rs199583200
|
0.00055
|
NM_025114.4(CEP290):c.1092T>G (p.Ile364Met)
|
rs201988582
|
0.00054
|
NM_015102.5(NPHP4):c.3181G>A (p.Val1061Ile)
|
rs143020939
|
0.00052
|
NM_006642.5(SDCCAG8):c.348C>T (p.His116=)
|
rs143226730
|
0.00051
|
NM_015102.5(NPHP4):c.1966G>A (p.Asp656Asn)
|
rs191602135
|
0.00050
|
NM_006642.5(SDCCAG8):c.778C>G (p.Leu260Val)
|
rs201869920
|
0.00046
|
NM_001023570.4(IQCB1):c.877-11C>T
|
rs192296154
|
0.00045
|
NM_025114.3(CEP290):c.-235T>G
|
rs569632834
|
0.00045
|
NM_015102.5(NPHP4):c.2531C>T (p.Pro844Leu)
|
rs186014615
|
0.00042
|
NM_015102.5(NPHP4):c.1850C>T (p.Ala617Val)
|
rs190522911
|
0.00041
|
NM_001023570.4(IQCB1):c.782T>G (p.Leu261Arg)
|
rs199959360
|
0.00040
|
NM_025114.4(CEP290):c.1360-4T>G
|
rs200328638
|
0.00040
|
NM_001128178.3(NPHP1):c.801G>A (p.Thr267=)
|
rs141763330
|
0.00039
|
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_015102.5(NPHP4):c.3045-5C>T
|
rs2297790
|
0.00038
|
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_025114.4(CEP290):c.2479C>G (p.Leu827Val)
|
rs201569048
|
0.00036
|
NM_015102.5(NPHP4):c.3612G>A (p.Pro1204=)
|
rs374003717
|
0.00035
|
NM_001023570.4(IQCB1):c.-147del
|
rs886057829
|
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_001128178.3(NPHP1):c.1469G>A (p.Arg490Lys)
|
rs149887461
|
0.00033
|
NM_001023570.4(IQCB1):c.-190C>T
|
rs145282757
|
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_015102.5(NPHP4):c.2115T>C (p.Pro705=)
|
rs200848754
|
0.00031
|
NM_025114.4(CEP290):c.5185C>T (p.Arg1729Trp)
|
rs201353893
|
0.00031
|
NM_006642.5(SDCCAG8):c.-121C>T
|
rs768318766
|
0.00030
|
NM_025114.4(CEP290):c.4250A>G (p.Gln1417Arg)
|
rs201504946
|
0.00030
|
NM_025114.4(CEP290):c.503G>A (p.Arg168His)
|
rs200063017
|
0.00029
|
NM_015102.5(NPHP4):c.3705C>T (p.Arg1235=)
|
rs199925943
|
0.00028
|
NM_015102.5(NPHP4):c.257C>T (p.Pro86Leu)
|
rs201998215
|
0.00027
|
NM_001023570.3(IQCB1):c.-215C>T
|
rs541891117
|
0.00026
|
NM_001023570.4(IQCB1):c.*148T>C
|
rs190963373
|
0.00026
|
NM_025114.3(CEP290):c.-295T>C
|
rs374616539
|
0.00026
|
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_015102.5(NPHP4):c.1127C>T (p.Ser376Leu)
|
rs372414566
|
0.00024
|
NM_015102.5(NPHP4):c.3175G>A (p.Ala1059Thr)
|
rs202004152
|
0.00024
|
NM_001128178.3(NPHP1):c.771+89A>G
|
rs139787582
|
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_015102.4(NPHP4):c.-236C>T
|
rs185912310
|
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_025114.4(CEP290):c.7276G>A (p.Asp2426Asn)
|
rs200178519
|
0.00021
|
NM_015102.5(NPHP4):c.1196A>G (p.Glu399Gly)
|
rs117898549
|
0.00020
|
NM_025114.4(CEP290):c.1729C>T (p.Leu577=)
|
rs201295052
|
0.00020
|
NM_001128178.3(NPHP1):c.867A>G (p.Gln289=)
|
rs371112962
|
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_025114.4(CEP290):c.-147A>T
|
rs753567406
|
0.00019
|
NM_001128178.3(NPHP1):c.1721C>T (p.Ser574Leu)
|
rs138181219
|
0.00018
|
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_025114.4(CEP290):c.384T>C (p.Asp128=)
|
rs76267039
|
0.00017
|
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_025114.4(CEP290):c.4555A>T (p.Ile1519Leu)
|
rs200817579
|
0.00016
|
NM_025114.4(CEP290):c.523C>A (p.Gln175Lys)
|
rs202159966
|
0.00016
|
NM_001023570.4(IQCB1):c.1311A>G (p.Lys437=)
|
rs142536967
|
0.00015
|
NM_001009894.3(RLIG1):c.*594T>C
|
rs376016171
|
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_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_025114.4(CEP290):c.5338G>A (p.Val1780Ile)
|
rs368492668
|
0.00013
|
NM_025114.4(CEP290):c.671C>T (p.Thr224Ile)
|
rs200587974
|
0.00013
|
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_015102.5(NPHP4):c.2642C>T (p.Ala881Val)
|
rs369335626
|
0.00011
|
NM_015102.5(NPHP4):c.3052G>A (p.Val1018Met)
|
rs201433248
|
0.00011
|
NM_025114.4(CEP290):c.4088G>A (p.Arg1363Gln)
|
rs188502327
|
0.00011
|
NM_015102.5(NPHP4):c.-52G>T
|
rs886046468
|
0.00010
|
NM_015102.5(NPHP4):c.1126T>G (p.Ser376Ala)
|
rs199561679
|
0.00010
|
NM_025114.4(CEP290):c.5284C>T (p.Arg1762Cys)
|
rs373307908
|
0.00010
|
NM_000272.3(NPHP1):c.-54C>T
|
rs777453061
|
0.00009
|
NM_001023570.4(IQCB1):c.*151T>C
|
rs1019317263
|
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_025114.4(CEP290):c.5055G>A (p.Ala1685=)
|
rs73192874
|
0.00009
|
NM_025114.4(CEP290):c.5421A>G (p.Thr1807=)
|
rs370464321
|
0.00009
|
NM_000272.4(NPHP1):c.*460T>A
|
rs960612307
|
0.00008
|
NM_001023570.4(IQCB1):c.-12-4A>T
|
rs760242984
|
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_025114.4(CEP290):c.343A>G (p.Asn115Asp)
|
rs140236736
|
0.00007
|
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_001128178.3(NPHP1):c.1761+5A>C
|
rs201030203
|
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_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_001128178.3(NPHP1):c.1932C>T (p.Gly644=)
|
rs200631256
|
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_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_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_001128178.3(NPHP1):c.*238T>C
|
rs897567205
|
0.00004
|
NM_001128178.3(NPHP1):c.1861G>C (p.Glu621Gln)
|
rs780427871
|
0.00004
|
NM_006642.5(SDCCAG8):c.1588G>A (p.Glu530Lys)
|
rs190020173
|
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_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_001023570.4(IQCB1):c.714T>C (p.Ala238=)
|
rs886057828
|
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_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_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_001023570.4(IQCB1):c.1393T>C (p.Tyr465His)
|
rs147708058
|
0.00002
|
NM_001023570.4(IQCB1):c.814C>G (p.Gln272Glu)
|
rs760296374
|
0.00002
|
NM_001128178.3(NPHP1):c.460G>A (p.Gly154Ser)
|
rs769509705
|
0.00002
|
NM_006642.5(SDCCAG8):c.741-7T>C
|
rs755931555
|
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_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_001009894.3(RLIG1):c.*611A>G
|
rs2033206514
|
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_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_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_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_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_001009894.3(RLIG1):c.*618TATT[1]
|
rs886049876
|
|
NM_001009894.3(RLIG1):c.*743_*746del
|
rs142288119
|
|
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_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_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_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_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
|
|