NM_015102.5(NPHP4):c.2818-2=
|
rs1217117155
|
0.84829
|
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_015102.5(NPHP4):c.1441+13A>G
|
rs7520105
|
0.17476
|
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_015102.5(NPHP4):c.1470C>T (p.Leu490=)
|
rs12116997
|
0.04804
|
NM_015102.5(NPHP4):c.86C>T (p.Thr29Met)
|
rs12142270
|
0.04382
|
NM_015102.5(NPHP4):c.2724G>A (p.Ser908=)
|
rs114545322
|
0.03032
|
NM_015102.5(NPHP4):c.1631C>G (p.Ala544Gly)
|
rs12093500
|
0.02840
|
NM_015102.5(NPHP4):c.2219G>A (p.Arg740His)
|
rs34248917
|
0.02256
|
NM_015102.5(NPHP4):c.3243G>C (p.Gly1081=)
|
rs41280800
|
0.01658
|
NM_015102.5(NPHP4):c.1611+9C>T
|
rs114900019
|
0.01637
|
NM_015102.5(NPHP4):c.2542C>T (p.Arg848Trp)
|
rs17472401
|
0.01606
|
NM_015102.5(NPHP4):c.2808G>A (p.Thr936=)
|
rs17028857
|
0.01235
|
NM_015102.5(NPHP4):c.3479C>T (p.Pro1160Leu)
|
rs113445782
|
0.01143
|
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_015102.5(NPHP4):c.1542G>A (p.Pro514=)
|
rs35264155
|
0.00677
|
NM_015102.5(NPHP4):c.1442-7C>T
|
rs146078470
|
0.00599
|
NM_015102.5(NPHP4):c.3674C>T (p.Thr1225Met)
|
rs144624477
|
0.00576
|
NM_015102.5(NPHP4):c.3894C>T (p.Ala1298=)
|
rs60094861
|
0.00477
|
NM_015102.5(NPHP4):c.2812G>A (p.Val938Met)
|
rs184961418
|
0.00460
|
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_015102.5(NPHP4):c.511G>A (p.Ala171Thr)
|
rs113765431
|
0.00408
|
NM_015102.5(NPHP4):c.279+11G>A
|
rs113902159
|
0.00401
|
NM_015102.5(NPHP4):c.3329C>T (p.Ala1110Val)
|
rs139767853
|
0.00374
|
NM_015102.5(NPHP4):c.1503+10G>A
|
rs41307782
|
0.00367
|
NM_015102.5(NPHP4):c.2914A>G (p.Ser972Gly)
|
rs187947581
|
0.00330
|
NM_015102.5(NPHP4):c.4237G>A (p.Asp1413Asn)
|
rs115910810
|
0.00328
|
NM_015102.5(NPHP4):c.3559-19del
|
rs201335783
|
0.00292
|
NM_015102.5(NPHP4):c.3036C>T (p.Pro1012=)
|
rs34265978
|
0.00283
|
NM_015102.5(NPHP4):c.1622C>T (p.Pro541Leu)
|
rs145255635
|
0.00265
|
NM_015102.5(NPHP4):c.2882G>A (p.Arg961His)
|
rs183885357
|
0.00200
|
NM_015102.5(NPHP4):c.2868C>T (p.Ala956=)
|
rs138025088
|
0.00188
|
NM_015102.5(NPHP4):c.810+14A>C
|
rs201977545
|
0.00173
|
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_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_015102.5(NPHP4):c.1024C>T (p.Arg342Cys)
|
rs190940697
|
0.00113
|
NM_015102.5(NPHP4):c.945G>A (p.Thr315=)
|
rs115272639
|
0.00113
|
NM_015102.5(NPHP4):c.271T>C (p.Phe91Leu)
|
rs201065230
|
0.00109
|
NM_015102.5(NPHP4):c.2653A>C (p.Ser885Arg)
|
rs112206586
|
0.00102
|
NM_015102.5(NPHP4):c.3232-12C>T
|
rs370840400
|
0.00101
|
NM_015102.5(NPHP4):c.2203C>T (p.Arg735Trp)
|
rs191913664
|
0.00096
|
NM_015102.5(NPHP4):c.2940G>A (p.Thr980=)
|
rs146948888
|
0.00087
|
NM_015102.5(NPHP4):c.1867A>G (p.Thr623Ala)
|
rs35959882
|
0.00081
|
NM_015102.5(NPHP4):c.2820G>A (p.Ala940=)
|
rs35575973
|
0.00078
|
NM_015102.5(NPHP4):c.3843G>T (p.Leu1281=)
|
rs9662691
|
0.00076
|
NM_015102.5(NPHP4):c.2257G>A (p.Asp753Asn)
|
rs148424288
|
0.00074
|
NM_015102.5(NPHP4):c.3851G>A (p.Arg1284His)
|
rs61739637
|
0.00069
|
NM_015102.5(NPHP4):c.2965G>A (p.Glu989Lys)
|
rs116606479
|
0.00068
|
NM_015102.5(NPHP4):c.3292G>A (p.Ala1098Thr)
|
rs41280798
|
0.00068
|
NM_015102.5(NPHP4):c.3983C>T (p.Pro1328Leu)
|
rs199583130
|
0.00068
|
NM_015102.5(NPHP4):c.2458C>T (p.Arg820Trp)
|
rs200182705
|
0.00067
|
NM_015102.5(NPHP4):c.4141-11C>T
|
rs139203183
|
0.00066
|
NM_015102.5(NPHP4):c.1482G>A (p.Gln494=)
|
rs199557439
|
0.00064
|
NM_015102.5(NPHP4):c.2557G>T (p.Asp853Tyr)
|
rs199875059
|
0.00064
|
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_015102.5(NPHP4):c.7G>T (p.Asp3Tyr)
|
rs145078518
|
0.00057
|
NM_015102.5(NPHP4):c.3181G>A (p.Val1061Ile)
|
rs143020939
|
0.00052
|
NM_015102.5(NPHP4):c.1966G>A (p.Asp656Asn)
|
rs191602135
|
0.00050
|
NM_015102.5(NPHP4):c.1935A>G (p.Leu645=)
|
rs200104274
|
0.00048
|
NM_015102.5(NPHP4):c.2531C>T (p.Pro844Leu)
|
rs186014615
|
0.00042
|
NM_015102.5(NPHP4):c.3899G>A (p.Ser1300Asn)
|
rs115869141
|
0.00042
|
NM_015102.5(NPHP4):c.1850C>T (p.Ala617Val)
|
rs190522911
|
0.00041
|
NM_015102.5(NPHP4):c.3837C>T (p.Phe1279=)
|
rs375237454
|
0.00040
|
NM_015102.5(NPHP4):c.117C>T (p.Asp39=)
|
rs368118106
|
0.00039
|
NM_015102.5(NPHP4):c.1478C>T (p.Pro493Leu)
|
rs201801114
|
0.00039
|
NM_015102.5(NPHP4):c.3045-5C>T
|
rs2297790
|
0.00038
|
NM_015102.5(NPHP4):c.1623G>T (p.Pro541=)
|
rs375796182
|
0.00036
|
NM_015102.5(NPHP4):c.3161G>A (p.Arg1054His)
|
rs369950850
|
0.00036
|
NM_015102.5(NPHP4):c.3612G>A (p.Pro1204=)
|
rs374003717
|
0.00035
|
NM_015102.5(NPHP4):c.1431G>A (p.Thr477=)
|
rs200183657
|
0.00034
|
NM_015102.5(NPHP4):c.2045G>A (p.Arg682Gln)
|
rs543023683
|
0.00034
|
NM_015102.5(NPHP4):c.2485+9C>A
|
rs200952409
|
0.00034
|
NM_015102.5(NPHP4):c.2811C>T (p.Ser937=)
|
rs758757125
|
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_015102.5(NPHP4):c.2714G>A (p.Ser905Asn)
|
rs368298952
|
0.00033
|
NM_015102.5(NPHP4):c.944C>T (p.Thr315Met)
|
rs200684272
|
0.00033
|
NM_015102.5(NPHP4):c.2115T>C (p.Pro705=)
|
rs200848754
|
0.00031
|
NM_015102.5(NPHP4):c.2305-20C>T
|
rs373131898
|
0.00031
|
NM_015102.5(NPHP4):c.3110A>C (p.Glu1037Ala)
|
rs200310448
|
0.00031
|
NM_015102.5(NPHP4):c.909C>T (p.Val303=)
|
rs201488441
|
0.00030
|
NM_015102.5(NPHP4):c.2425A>G (p.Lys809Glu)
|
rs371429952
|
0.00029
|
NM_015102.5(NPHP4):c.2819C>T (p.Ala940Val)
|
rs200136271
|
0.00029
|
NM_015102.5(NPHP4):c.34G>A (p.Val12Met)
|
rs201713171
|
0.00029
|
NM_015102.5(NPHP4):c.1286G>C (p.Ser429Thr)
|
rs202199543
|
0.00028
|
NM_015102.5(NPHP4):c.138C>T (p.Gly46=)
|
rs201069164
|
0.00028
|
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_015102.5(NPHP4):c.1089G>T (p.Val363=)
|
rs201464887
|
0.00026
|
NM_015102.5(NPHP4):c.2142T>A (p.Ala714=)
|
rs199912631
|
0.00026
|
NM_015102.5(NPHP4):c.3385G>A (p.Val1129Met)
|
rs372934556
|
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.1844A>G (p.Gln615Arg)
|
rs371424317
|
0.00025
|
NM_015102.5(NPHP4):c.2109C>T (p.Leu703=)
|
rs373182062
|
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_015102.5(NPHP4):c.419C>T (p.Pro140Leu)
|
rs370837214
|
0.00024
|
NM_015102.5(NPHP4):c.790G>A (p.Val264Ile)
|
rs772753780
|
0.00024
|
NM_015102.5(NPHP4):c.3105G>A (p.Pro1035=)
|
rs151151838
|
0.00023
|
NM_015102.5(NPHP4):c.1440G>A (p.Ser480=)
|
rs374690894
|
0.00022
|
NM_015102.5(NPHP4):c.3145C>T (p.Pro1049Ser)
|
rs759609852
|
0.00022
|
NM_015102.5(NPHP4):c.3888T>G (p.Leu1296=)
|
rs530723109
|
0.00021
|
NM_015102.5(NPHP4):c.1196A>G (p.Glu399Gly)
|
rs117898549
|
0.00020
|
NM_015102.5(NPHP4):c.1120-13G>T
|
rs192450719
|
0.00019
|
NM_015102.5(NPHP4):c.2129G>A (p.Gly710Asp)
|
rs563684894
|
0.00019
|
NM_015102.5(NPHP4):c.2230G>A (p.Val744Met)
|
rs199712626
|
0.00019
|
NM_015102.5(NPHP4):c.2436C>T (p.Gly812=)
|
rs376696627
|
0.00019
|
NM_015102.5(NPHP4):c.3044+20C>T
|
rs372051668
|
0.00019
|
NM_015102.5(NPHP4):c.3518G>A (p.Arg1173His)
|
rs137932153
|
0.00019
|
NM_015102.5(NPHP4):c.39T>G (p.Leu13=)
|
rs368335406
|
0.00019
|
NM_015102.5(NPHP4):c.1813G>A (p.Gly605Ser)
|
rs201282741
|
0.00018
|
NM_015102.5(NPHP4):c.2445G>A (p.Ser815=)
|
rs764367617
|
0.00017
|
NM_015102.5(NPHP4):c.2716C>T (p.Arg906Cys)
|
rs199992272
|
0.00017
|
NM_015102.5(NPHP4):c.3028G>A (p.Asp1010Asn)
|
rs200166175
|
0.00017
|
NM_015102.5(NPHP4):c.3131G>A (p.Arg1044His)
|
rs375819124
|
0.00017
|
NM_015102.5(NPHP4):c.4107G>A (p.Pro1369=)
|
rs200569946
|
0.00017
|
NM_015102.5(NPHP4):c.1048G>A (p.Gly350Ser)
|
rs377155892
|
0.00016
|
NM_015102.5(NPHP4):c.1331G>A (p.Arg444Gln)
|
rs202179978
|
0.00016
|
NM_015102.5(NPHP4):c.2035A>G (p.Thr679Ala)
|
rs201642456
|
0.00016
|
NM_015102.5(NPHP4):c.2623G>A (p.Val875Met)
|
rs571204647
|
0.00016
|
NM_015102.5(NPHP4):c.2781C>T (p.Ala927=)
|
rs199875603
|
0.00016
|
NM_015102.5(NPHP4):c.2834G>A (p.Arg945His)
|
rs201531378
|
0.00016
|
NM_015102.5(NPHP4):c.354A>G (p.Lys118=)
|
rs573826727
|
0.00016
|
NM_015102.5(NPHP4):c.3777G>A (p.Arg1259=)
|
rs369566680
|
0.00016
|
NM_015102.5(NPHP4):c.3817-20C>T
|
rs573999865
|
0.00016
|
NM_015102.5(NPHP4):c.467A>G (p.His156Arg)
|
rs199897869
|
0.00016
|
NM_015102.5(NPHP4):c.2687G>A (p.Arg896Gln)
|
rs372438267
|
0.00015
|
NM_015102.5(NPHP4):c.2797C>T (p.Arg933Trp)
|
rs778505641
|
0.00015
|
NM_015102.5(NPHP4):c.3364A>C (p.Thr1122Pro)
|
rs375836844
|
0.00015
|
NM_015102.5(NPHP4):c.563C>T (p.Thr188Met)
|
rs200711763
|
0.00015
|
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.3309C>T (p.His1103=)
|
rs200320780
|
0.00014
|
NM_015102.5(NPHP4):c.3351C>T (p.Ala1117=)
|
rs371643259
|
0.00014
|
NM_015102.5(NPHP4):c.3352G>A (p.Val1118Met)
|
rs368703067
|
0.00014
|
NM_015102.5(NPHP4):c.4099G>A (p.Asp1367Asn)
|
rs367636423
|
0.00014
|
NM_015102.5(NPHP4):c.902C>T (p.Pro301Leu)
|
rs527701970
|
0.00014
|
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_015102.5(NPHP4):c.3996+3C>T
|
rs373386232
|
0.00013
|
NM_015102.5(NPHP4):c.868G>T (p.Gly290Cys)
|
rs755124987
|
0.00013
|
NM_015102.5(NPHP4):c.1376C>A (p.Thr459Lys)
|
rs371819898
|
0.00012
|
NM_015102.5(NPHP4):c.2486-6A>G
|
rs191289431
|
0.00012
|
NM_015102.5(NPHP4):c.2603G>A (p.Ser868Asn)
|
rs763576044
|
0.00012
|
NM_015102.5(NPHP4):c.279+6C>T
|
rs199856317
|
0.00012
|
NM_015102.5(NPHP4):c.673+9G>A
|
rs368961102
|
0.00012
|
NM_015102.5(NPHP4):c.122C>T (p.Pro41Leu)
|
rs754311690
|
0.00011
|
NM_015102.5(NPHP4):c.2642C>T (p.Ala881Val)
|
rs369335626
|
0.00011
|
NM_015102.5(NPHP4):c.280-4G>A
|
rs190495420
|
0.00011
|
NM_015102.5(NPHP4):c.2800C>T (p.Arg934Cys)
|
rs774737760
|
0.00011
|
NM_015102.5(NPHP4):c.3011C>T (p.Thr1004Met)
|
rs528511138
|
0.00011
|
NM_015102.5(NPHP4):c.3044+11A>C
|
rs778862383
|
0.00011
|
NM_015102.5(NPHP4):c.3052G>A (p.Val1018Met)
|
rs201433248
|
0.00011
|
NM_015102.5(NPHP4):c.810+11A>G
|
rs567382723
|
0.00011
|
NM_015102.5(NPHP4):c.1126T>G (p.Ser376Ala)
|
rs199561679
|
0.00010
|
NM_015102.5(NPHP4):c.1541C>T (p.Pro514Leu)
|
rs367694436
|
0.00010
|
NM_015102.5(NPHP4):c.2569C>T (p.Arg857Cys)
|
rs372688518
|
0.00010
|
NM_015102.5(NPHP4):c.2736C>T (p.Arg912=)
|
rs754514091
|
0.00010
|
NM_015102.5(NPHP4):c.280-18C>G
|
rs367703759
|
0.00010
|
NM_015102.5(NPHP4):c.2830G>A (p.Val944Ile)
|
rs188262700
|
0.00010
|
NM_015102.5(NPHP4):c.3850C>T (p.Arg1284Cys)
|
rs779755743
|
0.00010
|
NM_015102.5(NPHP4):c.3895G>A (p.Gly1299Ser)
|
rs371368653
|
0.00010
|
NM_015102.5(NPHP4):c.4105C>T (p.Pro1369Ser)
|
rs376675995
|
0.00010
|
NM_015102.5(NPHP4):c.870C>T (p.Gly290=)
|
rs749844096
|
0.00010
|
NM_015102.5(NPHP4):c.1230G>T (p.Gln410His)
|
rs368074369
|
0.00009
|
NM_015102.5(NPHP4):c.1462C>T (p.Arg488Ter)
|
rs778043242
|
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.2717G>A (p.Arg906His)
|
rs77973802
|
0.00009
|
NM_015102.5(NPHP4):c.2892C>T (p.Ala964=)
|
rs762709199
|
0.00009
|
NM_015102.5(NPHP4):c.2951C>T (p.Thr984Met)
|
rs377729557
|
0.00009
|
NM_015102.5(NPHP4):c.3012G>A (p.Thr1004=)
|
rs185162256
|
0.00009
|
NM_015102.5(NPHP4):c.3045-17G>C
|
rs758528343
|
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_015102.5(NPHP4):c.3770C>T (p.Thr1257Ile)
|
rs746967083
|
0.00009
|
NM_015102.5(NPHP4):c.853C>T (p.Arg285Trp)
|
rs201680615
|
0.00009
|
NM_015102.5(NPHP4):c.1923C>T (p.Asn641=)
|
rs372430727
|
0.00008
|
NM_015102.5(NPHP4):c.2093C>T (p.Ala698Val)
|
rs745698836
|
0.00008
|
NM_015102.5(NPHP4):c.2543G>A (p.Arg848Gln)
|
rs398124288
|
0.00008
|
NM_015102.5(NPHP4):c.2723C>T (p.Ser908Leu)
|
rs543726103
|
0.00008
|
NM_015102.5(NPHP4):c.2807C>T (p.Thr936Met)
|
rs201074950
|
0.00008
|
NM_015102.5(NPHP4):c.2833C>T (p.Arg945Cys)
|
rs767344564
|
0.00008
|
NM_015102.5(NPHP4):c.2952G>A (p.Thr984=)
|
rs375493384
|
0.00008
|
NM_015102.5(NPHP4):c.1320G>A (p.Ser440=)
|
rs775008568
|
0.00007
|
NM_015102.5(NPHP4):c.2039C>T (p.Thr680Met)
|
rs370238544
|
0.00007
|
NM_015102.5(NPHP4):c.2206C>T (p.Arg736Cys)
|
rs372959036
|
0.00007
|
NM_015102.5(NPHP4):c.2349G>A (p.Glu783=)
|
rs778596372
|
0.00007
|
NM_015102.5(NPHP4):c.2734C>T (p.Arg912Cys)
|
rs368106760
|
0.00007
|
NM_015102.5(NPHP4):c.280-6C>G
|
rs532995236
|
0.00007
|
NM_015102.5(NPHP4):c.2866G>A (p.Ala956Thr)
|
rs369624442
|
0.00007
|
NM_015102.5(NPHP4):c.2902G>A (p.Ala968Thr)
|
rs375090704
|
0.00007
|
NM_015102.5(NPHP4):c.2931G>A (p.Thr977=)
|
rs756370084
|
0.00007
|
NM_015102.5(NPHP4):c.3160C>T (p.Arg1054Cys)
|
rs373369949
|
0.00007
|
NM_015102.5(NPHP4):c.3645-10C>A
|
rs745843093
|
0.00007
|
NM_015102.5(NPHP4):c.4019C>T (p.Ala1340Val)
|
rs201560526
|
0.00007
|
NM_015102.5(NPHP4):c.675C>T (p.Gly225=)
|
rs200203766
|
0.00007
|
NM_015102.5(NPHP4):c.1025G>A (p.Arg342His)
|
rs369550765
|
0.00006
|
NM_015102.5(NPHP4):c.1106G>T (p.Gly369Val)
|
rs758027686
|
0.00006
|
NM_015102.5(NPHP4):c.1166T>C (p.Val389Ala)
|
rs368324380
|
0.00006
|
NM_015102.5(NPHP4):c.1169G>A (p.Arg390His)
|
rs146637048
|
0.00006
|
NM_015102.5(NPHP4):c.1222C>T (p.Pro408Ser)
|
rs201192228
|
0.00006
|
NM_015102.5(NPHP4):c.1238T>C (p.Ile413Thr)
|
rs373614448
|
0.00006
|
NM_015102.5(NPHP4):c.1439C>T (p.Ser480Leu)
|
rs762305544
|
0.00006
|
NM_015102.5(NPHP4):c.1490C>G (p.Pro497Arg)
|
rs375051705
|
0.00006
|
NM_015102.5(NPHP4):c.1500A>G (p.Pro500=)
|
rs753250092
|
0.00006
|
NM_015102.5(NPHP4):c.1576C>T (p.Leu526=)
|
rs759553749
|
0.00006
|
NM_015102.5(NPHP4):c.2187C>T (p.Phe729=)
|
rs767577297
|
0.00006
|
NM_015102.5(NPHP4):c.2198G>A (p.Gly733Asp)
|
rs587783027
|
0.00006
|
NM_015102.5(NPHP4):c.2306A>T (p.His769Leu)
|
rs200821373
|
0.00006
|
NM_015102.5(NPHP4):c.254C>T (p.Pro85Leu)
|
rs200272048
|
0.00006
|
NM_015102.5(NPHP4):c.279G>T (p.Glu93Asp)
|
rs775927621
|
0.00006
|
NM_015102.5(NPHP4):c.2881C>T (p.Arg961Cys)
|
rs376773394
|
0.00006
|
NM_015102.5(NPHP4):c.2893G>A (p.Glu965Lys)
|
rs192464308
|
0.00006
|
NM_015102.5(NPHP4):c.2930C>T (p.Thr977Met)
|
rs569364202
|
0.00006
|
NM_015102.5(NPHP4):c.2939C>T (p.Thr980Met)
|
rs199645515
|
0.00006
|
NM_015102.5(NPHP4):c.3104C>T (p.Pro1035Leu)
|
rs376508978
|
0.00006
|
NM_015102.5(NPHP4):c.3118A>G (p.Met1040Val)
|
rs777310738
|
0.00006
|
NM_015102.5(NPHP4):c.3169G>A (p.Glu1057Lys)
|
rs755465110
|
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.3757C>T (p.Arg1253Trp)
|
rs762195159
|
0.00006
|
NM_015102.5(NPHP4):c.3915C>T (p.Leu1305=)
|
rs370424194
|
0.00006
|
NM_015102.5(NPHP4):c.3960C>T (p.Leu1320=)
|
rs778306754
|
0.00006
|
NM_015102.5(NPHP4):c.4118G>A (p.Arg1373Gln)
|
rs768550124
|
0.00006
|
NM_015102.5(NPHP4):c.4261G>A (p.Val1421Met)
|
rs371657189
|
0.00006
|
NM_015102.5(NPHP4):c.551G>A (p.Ser184Asn)
|
rs371641969
|
0.00006
|
NM_015102.5(NPHP4):c.619C>T (p.Leu207=)
|
rs765514910
|
0.00006
|
NM_015102.5(NPHP4):c.674-18G>A
|
rs746544225
|
0.00006
|
NM_015102.5(NPHP4):c.856C>T (p.Arg286Cys)
|
rs189511182
|
0.00006
|
NM_015102.5(NPHP4):c.863G>A (p.Arg288His)
|
rs774872736
|
0.00006
|
NM_015102.5(NPHP4):c.946C>T (p.Arg316Cys)
|
rs761345213
|
0.00006
|
NM_015102.5(NPHP4):c.1129G>A (p.Val377Ile)
|
rs751685493
|
0.00005
|
NM_015102.5(NPHP4):c.1503+19C>T
|
rs368115025
|
0.00005
|
NM_015102.5(NPHP4):c.1504-12C>G
|
rs753092403
|
0.00005
|
NM_015102.5(NPHP4):c.1581C>T (p.Pro527=)
|
rs140728027
|
0.00005
|
NM_015102.5(NPHP4):c.1709A>G (p.Glu570Gly)
|
rs200634524
|
0.00005
|
NM_015102.5(NPHP4):c.1763+14C>G
|
rs752748198
|
0.00005
|
NM_015102.5(NPHP4):c.1851C>T (p.Ala617=)
|
rs201192584
|
0.00005
|
NM_015102.5(NPHP4):c.1889_1892del (p.Pro630fs)
|
rs1368105372
|
0.00005
|
NM_015102.5(NPHP4):c.2143+3G>T
|
rs762882392
|
0.00005
|
NM_015102.5(NPHP4):c.2292C>T (p.Ala764=)
|
rs550547107
|
0.00005
|
NM_015102.5(NPHP4):c.2323C>T (p.Arg775Trp)
|
rs768582000
|
0.00005
|
NM_015102.5(NPHP4):c.2532G>A (p.Pro844=)
|
rs376157441
|
0.00005
|
NM_015102.5(NPHP4):c.2594C>T (p.Thr865Met)
|
rs368898819
|
0.00005
|
NM_015102.5(NPHP4):c.2647G>A (p.Val883Met)
|
rs769851221
|
0.00005
|
NM_015102.5(NPHP4):c.2798G>A (p.Arg933Gln)
|
rs768347263
|
0.00005
|
NM_015102.5(NPHP4):c.2885C>T (p.Thr962Met)
|
rs552595155
|
0.00005
|
NM_015102.5(NPHP4):c.3037G>A (p.Glu1013Lys)
|
rs771042265
|
0.00005
|
NM_015102.5(NPHP4):c.33C>T (p.Asn11=)
|
rs746542667
|
0.00005
|
NM_015102.5(NPHP4):c.3434A>G (p.Lys1145Arg)
|
rs923103631
|
0.00005
|
NM_015102.5(NPHP4):c.3686A>G (p.Tyr1229Cys)
|
rs374390513
|
0.00005
|
NM_015102.5(NPHP4):c.3706G>A (p.Val1236Met)
|
rs781049266
|
0.00005
|
NM_015102.5(NPHP4):c.3997-15C>T
|
rs754743775
|
0.00005
|
NM_015102.5(NPHP4):c.4145G>A (p.Gly1382Glu)
|
rs773368924
|
0.00005
|
NM_015102.5(NPHP4):c.64C>T (p.Arg22Cys)
|
rs773309269
|
0.00005
|
NM_015102.5(NPHP4):c.694C>T (p.Arg232Cys)
|
rs572497035
|
0.00005
|
NM_015102.5(NPHP4):c.1005A>G (p.Gln335=)
|
rs398124287
|
0.00004
|
NM_015102.5(NPHP4):c.1118A>G (p.Asn373Ser)
|
rs556579725
|
0.00004
|
NM_015102.5(NPHP4):c.1120-9T>A
|
rs570380438
|
0.00004
|
NM_015102.5(NPHP4):c.1168C>T (p.Arg390Cys)
|
rs748941493
|
0.00004
|
NM_015102.5(NPHP4):c.1192C>A (p.Leu398Met)
|
rs200378192
|
0.00004
|
NM_015102.5(NPHP4):c.133C>T (p.Gln45Ter)
|
rs370210428
|
0.00004
|
NM_015102.5(NPHP4):c.1448C>G (p.Pro483Arg)
|
rs759608529
|
0.00004
|
NM_015102.5(NPHP4):c.1503+12C>T
|
rs1489750005
|
0.00004
|
NM_015102.5(NPHP4):c.1524G>A (p.Ala508=)
|
rs760977291
|
0.00004
|
NM_015102.5(NPHP4):c.1611+20C>T
|
rs374368843
|
0.00004
|
NM_015102.5(NPHP4):c.1634G>A (p.Gly545Asp)
|
rs200800785
|
0.00004
|
NM_015102.5(NPHP4):c.1653C>T (p.Ala551=)
|
rs751732786
|
0.00004
|
NM_015102.5(NPHP4):c.1695C>T (p.Ala565=)
|
rs773050903
|
0.00004
|
NM_015102.5(NPHP4):c.1764-5C>T
|
rs370899989
|
0.00004
|
NM_015102.5(NPHP4):c.1822G>A (p.Glu608Lys)
|
rs780231735
|
0.00004
|
NM_015102.5(NPHP4):c.1863C>T (p.Ser621=)
|
rs185572258
|
0.00004
|
NM_015102.5(NPHP4):c.1874C>T (p.Pro625Leu)
|
rs377160096
|
0.00004
|
NM_015102.5(NPHP4):c.1973G>A (p.Arg658Gln)
|
rs767073232
|
0.00004
|
NM_015102.5(NPHP4):c.2373C>T (p.Tyr791=)
|
rs199687209
|
0.00004
|
NM_015102.5(NPHP4):c.2556C>T (p.Asn852=)
|
rs775487057
|
0.00004
|
NM_015102.5(NPHP4):c.2619C>T (p.His873=)
|
rs538589311
|
0.00004
|
NM_015102.5(NPHP4):c.267C>T (p.Ile89=)
|
rs372171438
|
0.00004
|
NM_015102.5(NPHP4):c.2752C>T (p.Arg918Trp)
|
rs767779934
|
0.00004
|
NM_015102.5(NPHP4):c.2818-14C>T
|
rs1403445608
|
0.00004
|
NM_015102.5(NPHP4):c.285G>A (p.Leu95=)
|
rs767329719
|
0.00004
|
NM_015102.5(NPHP4):c.2869G>A (p.Ala957Thr)
|
rs772593921
|
0.00004
|
NM_015102.5(NPHP4):c.2886G>A (p.Thr962=)
|
rs368320071
|
0.00004
|
NM_015102.5(NPHP4):c.2927C>T (p.Thr976Ile)
|
rs756219438
|
0.00004
|
NM_015102.5(NPHP4):c.2947G>A (p.Ala983Thr)
|
rs760239548
|
0.00004
|
NM_015102.5(NPHP4):c.2961C>T (p.Val987=)
|
rs113802525
|
0.00004
|
NM_015102.5(NPHP4):c.2962G>A (p.Ala988Thr)
|
rs770053255
|
0.00004
|
NM_015102.5(NPHP4):c.3010dup (p.Thr1004fs)
|
rs748950922
|
0.00004
|
NM_015102.5(NPHP4):c.3073G>C (p.Asp1025His)
|
rs760874774
|
0.00004
|
NM_015102.5(NPHP4):c.3092G>C (p.Gly1031Ala)
|
rs775526590
|
0.00004
|
NM_015102.5(NPHP4):c.319G>A (p.Val107Met)
|
rs377738968
|
0.00004
|
NM_015102.5(NPHP4):c.3291C>T (p.Ser1097=)
|
rs543488908
|
0.00004
|
NM_015102.5(NPHP4):c.3310G>A (p.Ala1104Thr)
|
rs747313030
|
0.00004
|
NM_015102.5(NPHP4):c.3403C>T (p.Arg1135Cys)
|
rs374387338
|
0.00004
|
NM_015102.5(NPHP4):c.356G>A (p.Arg119Gln)
|
rs748420916
|
0.00004
|
NM_015102.5(NPHP4):c.3739C>T (p.Arg1247Cys)
|
rs377686745
|
0.00004
|
NM_015102.5(NPHP4):c.3817-11C>T
|
rs774350462
|
0.00004
|
NM_015102.5(NPHP4):c.3901C>T (p.Arg1301Cys)
|
rs766610686
|
0.00004
|
NM_015102.5(NPHP4):c.3984G>A (p.Pro1328=)
|
rs763002637
|
0.00004
|
NM_015102.5(NPHP4):c.4075C>T (p.Arg1359Trp)
|
rs369162678
|
0.00004
|
NM_015102.5(NPHP4):c.4101C>T (p.Asp1367=)
|
rs985774455
|
0.00004
|
NM_015102.5(NPHP4):c.4167C>T (p.Ile1389=)
|
rs776657788
|
0.00004
|
NM_015102.5(NPHP4):c.494C>T (p.Pro165Leu)
|
rs750994795
|
0.00004
|
NM_015102.5(NPHP4):c.503A>G (p.Gln168Arg)
|
rs762284065
|
0.00004
|
NM_015102.5(NPHP4):c.593C>T (p.Ala198Val)
|
rs370410995
|
0.00004
|
NM_015102.5(NPHP4):c.674-8T>G
|
rs772596216
|
0.00004
|
NM_015102.5(NPHP4):c.828C>T (p.Asp276=)
|
rs765113652
|
0.00004
|
NM_015102.5(NPHP4):c.891C>T (p.Phe297=)
|
rs547403324
|
0.00004
|
NM_015102.5(NPHP4):c.903G>A (p.Pro301=)
|
rs757313436
|
0.00004
|
NM_015102.5(NPHP4):c.997G>A (p.Gly333Arg)
|
rs772219240
|
0.00004
|
NM_015102.5(NPHP4):c.1087G>A (p.Val363Met)
|
rs373624347
|
0.00003
|
NM_015102.5(NPHP4):c.1330C>T (p.Arg444Trp)
|
rs375090105
|
0.00003
|
NM_015102.5(NPHP4):c.136-13C>T
|
rs749797110
|
0.00003
|
NM_015102.5(NPHP4):c.1408C>T (p.Arg470Trp)
|
rs367686843
|
0.00003
|
NM_015102.5(NPHP4):c.1430C>T (p.Thr477Met)
|
rs886043364
|
0.00003
|
NM_015102.5(NPHP4):c.143T>C (p.Leu48Pro)
|
rs374239338
|
0.00003
|
NM_015102.5(NPHP4):c.1533G>A (p.Pro511=)
|
rs775251652
|
0.00003
|
NM_015102.5(NPHP4):c.1715C>T (p.Pro572Leu)
|
rs183722664
|
0.00003
|
NM_015102.5(NPHP4):c.1815C>T (p.Gly605=)
|
rs748315715
|
0.00003
|
NM_015102.5(NPHP4):c.1972C>T (p.Arg658Ter)
|
rs137852923
|
0.00003
|
NM_015102.5(NPHP4):c.2020C>T (p.Arg674Cys)
|
rs748042945
|
0.00003
|
NM_015102.5(NPHP4):c.2032G>A (p.Ala678Thr)
|
rs368101076
|
0.00003
|
NM_015102.5(NPHP4):c.2238C>T (p.Thr746=)
|
rs756449736
|
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.2280C>T (p.Ile760=)
|
rs1013943590
|
0.00003
|
NM_015102.5(NPHP4):c.2346C>T (p.His782=)
|
rs1433852047
|
0.00003
|
NM_015102.5(NPHP4):c.2358C>T (p.Val786=)
|
rs371647995
|
0.00003
|
NM_015102.5(NPHP4):c.2419C>T (p.Arg807Cys)
|
rs770004315
|
0.00003
|
NM_015102.5(NPHP4):c.2513G>A (p.Gly838Asp)
|
rs1233207932
|
0.00003
|
NM_015102.5(NPHP4):c.2527C>G (p.Pro843Ala)
|
rs775263560
|
0.00003
|
NM_015102.5(NPHP4):c.2611+1G>A
|
rs374141736
|
0.00003
|
NM_015102.5(NPHP4):c.2620G>A (p.Val874Met)
|
rs1412960310
|
0.00003
|
NM_015102.5(NPHP4):c.2646C>T (p.Asp882=)
|
rs774354969
|
0.00003
|
NM_015102.5(NPHP4):c.2818-20C>T
|
rs794727344
|
0.00003
|
NM_015102.5(NPHP4):c.2849G>A (p.Arg950Gln)
|
rs762546912
|
0.00003
|
NM_015102.5(NPHP4):c.2901C>T (p.Ile967=)
|
rs764788201
|
0.00003
|
NM_015102.5(NPHP4):c.2964C>T (p.Ala988=)
|
rs373285520
|
0.00003
|
NM_015102.5(NPHP4):c.3059G>C (p.Ser1020Thr)
|
rs754216736
|
0.00003
|
NM_015102.5(NPHP4):c.3081G>A (p.Lys1027=)
|
rs745993624
|
0.00003
|
NM_015102.5(NPHP4):c.3226G>C (p.Val1076Leu)
|
rs766365388
|
0.00003
|
NM_015102.5(NPHP4):c.3232-11G>A
|
rs191631053
|
0.00003
|
NM_015102.5(NPHP4):c.3268G>A (p.Ala1090Thr)
|
rs573269001
|
0.00003
|
NM_015102.5(NPHP4):c.3325C>T (p.Arg1109Ter)
|
rs758275952
|
0.00003
|
NM_015102.5(NPHP4):c.3360C>T (p.Cys1120=)
|
rs188869698
|
0.00003
|
NM_015102.5(NPHP4):c.3417G>A (p.Pro1139=)
|
rs371527260
|
0.00003
|
NM_015102.5(NPHP4):c.3452C>T (p.Pro1151Leu)
|
rs549077156
|
0.00003
|
NM_015102.5(NPHP4):c.3525C>T (p.Ser1175=)
|
rs779230173
|
0.00003
|
NM_015102.5(NPHP4):c.3535G>T (p.Val1179Phe)
|
rs757359430
|
0.00003
|
NM_015102.5(NPHP4):c.3555T>A (p.Asn1185Lys)
|
rs753555544
|
0.00003
|
NM_015102.5(NPHP4):c.3561C>T (p.Gly1187=)
|
rs1041168838
|
0.00003
|
NM_015102.5(NPHP4):c.3575G>A (p.Arg1192Gln)
|
rs539967736
|
0.00003
|
NM_015102.5(NPHP4):c.3611C>T (p.Pro1204Leu)
|
rs199625626
|
0.00003
|
NM_015102.5(NPHP4):c.3740G>A (p.Arg1247His)
|
rs200623969
|
0.00003
|
NM_015102.5(NPHP4):c.3882G>T (p.Arg1294Ser)
|
rs367814493
|
0.00003
|
NM_015102.5(NPHP4):c.3961G>A (p.Val1321Met)
|
rs372485746
|
0.00003
|
NM_015102.5(NPHP4):c.4076G>A (p.Arg1359Gln)
|
rs766202367
|
0.00003
|
NM_015102.5(NPHP4):c.4080G>A (p.Arg1360=)
|
rs755937381
|
0.00003
|
NM_015102.5(NPHP4):c.4106C>T (p.Pro1369Leu)
|
rs746256511
|
0.00003
|
NM_015102.5(NPHP4):c.490C>T (p.His164Tyr)
|
rs761063669
|
0.00003
|
NM_015102.5(NPHP4):c.518-18T>C
|
rs751941380
|
0.00003
|
NM_015102.5(NPHP4):c.600C>T (p.His200=)
|
rs376039101
|
0.00003
|
NM_015102.5(NPHP4):c.669A>G (p.Glu223=)
|
rs183537107
|
0.00003
|
NM_015102.5(NPHP4):c.1063G>T (p.Ala355Ser)
|
rs761112031
|
0.00002
|
NM_015102.5(NPHP4):c.109T>C (p.Trp37Arg)
|
rs770741381
|
0.00002
|
NM_015102.5(NPHP4):c.1343C>T (p.Ser448Leu)
|
rs367909950
|
0.00002
|
NM_015102.5(NPHP4):c.135+7A>G
|
rs755240438
|
0.00002
|
NM_015102.5(NPHP4):c.1357G>T (p.Glu453Ter)
|
rs1210874691
|
0.00002
|
NM_015102.5(NPHP4):c.1418G>T (p.Arg473Met)
|
rs754829412
|
0.00002
|
NM_015102.5(NPHP4):c.1442-8C>T
|
rs766872386
|
0.00002
|
NM_015102.5(NPHP4):c.1471G>A (p.Ala491Thr)
|
rs200462413
|
0.00002
|
NM_015102.5(NPHP4):c.152T>C (p.Leu51Pro)
|
rs775055035
|
0.00002
|
NM_015102.5(NPHP4):c.1585G>A (p.Gly529Ser)
|
rs750626428
|
0.00002
|
NM_015102.5(NPHP4):c.1585_1586del (p.Gly529fs)
|
rs751662952
|
0.00002
|
NM_015102.5(NPHP4):c.1612-11G>A
|
rs372386562
|
0.00002
|
NM_015102.5(NPHP4):c.1797G>A (p.Val599=)
|
rs776240800
|
0.00002
|
NM_015102.5(NPHP4):c.1812C>T (p.Ser604=)
|
rs773565122
|
0.00002
|
NM_015102.5(NPHP4):c.1914A>G (p.Leu638=)
|
rs373607911
|
0.00002
|
NM_015102.5(NPHP4):c.1929G>A (p.Met643Ile)
|
rs779995407
|
0.00002
|
NM_015102.5(NPHP4):c.198C>G (p.Thr66=)
|
rs1477004787
|
0.00002
|
NM_015102.5(NPHP4):c.1996G>A (p.Val666Met)
|
rs372909916
|
0.00002
|
NM_015102.5(NPHP4):c.2006C>T (p.Thr669Ile)
|
rs368327650
|
0.00002
|
NM_015102.5(NPHP4):c.2091C>T (p.Gly697=)
|
rs531162424
|
0.00002
|
NM_015102.5(NPHP4):c.2116G>T (p.Val706Leu)
|
rs755418982
|
0.00002
|
NM_015102.5(NPHP4):c.2268C>T (p.Ser756=)
|
rs768290484
|
0.00002
|
NM_015102.5(NPHP4):c.2304+6G>A
|
rs751418752
|
0.00002
|
NM_015102.5(NPHP4):c.2305-17G>A
|
rs990115671
|
0.00002
|
NM_015102.5(NPHP4):c.2421C>T (p.Arg807=)
|
rs746889951
|
0.00002
|
NM_015102.5(NPHP4):c.2429C>T (p.Pro810Leu)
|
rs577635238
|
0.00002
|
NM_015102.5(NPHP4):c.2444C>T (p.Ser815Leu)
|
rs202165848
|
0.00002
|
NM_015102.5(NPHP4):c.2612-5C>T
|
rs760099622
|
0.00002
|
NM_015102.5(NPHP4):c.2686C>T (p.Arg896Trp)
|
rs754364004
|
0.00002
|
NM_015102.5(NPHP4):c.2740C>T (p.Arg914Cys)
|
rs373603595
|
0.00002
|
NM_015102.5(NPHP4):c.2871C>T (p.Ala957=)
|
rs748561999
|
0.00002
|
NM_015102.5(NPHP4):c.2956G>A (p.Gly986Arg)
|
rs370946873
|
0.00002
|
NM_015102.5(NPHP4):c.2998A>G (p.Asn1000Asp)
|
rs766073255
|
0.00002
|
NM_015102.5(NPHP4):c.3032A>G (p.Asn1011Ser)
|
rs369529384
|
0.00002
|
NM_015102.5(NPHP4):c.3051C>T (p.Ile1017=)
|
rs753246840
|
0.00002
|
NM_015102.5(NPHP4):c.3200G>C (p.Ser1067Thr)
|
rs1313851585
|
0.00002
|
NM_015102.5(NPHP4):c.3241G>C (p.Gly1081Arg)
|
rs373981841
|
0.00002
|
NM_015102.5(NPHP4):c.3272del (p.Val1091fs)
|
rs1278089386
|
0.00002
|
NM_015102.5(NPHP4):c.3335G>A (p.Gly1112Asp)
|
rs755637892
|
0.00002
|
NM_015102.5(NPHP4):c.3348C>T (p.Ile1116=)
|
rs751938743
|
0.00002
|
NM_015102.5(NPHP4):c.3366T>C (p.Thr1122=)
|
rs768531427
|
0.00002
|
NM_015102.5(NPHP4):c.3473-5T>A
|
rs112450492
|
0.00002
|
NM_015102.5(NPHP4):c.3630T>G (p.Phe1210Leu)
|
rs758458943
|
0.00002
|
NM_015102.5(NPHP4):c.3649C>T (p.Arg1217Cys)
|
rs751325206
|
0.00002
|
NM_015102.5(NPHP4):c.3659C>T (p.Ala1220Val)
|
rs758049366
|
0.00002
|
NM_015102.5(NPHP4):c.3664C>G (p.Pro1222Ala)
|
rs1038494626
|
0.00002
|
NM_015102.5(NPHP4):c.3723C>T (p.Val1241=)
|
rs375485412
|
0.00002
|
NM_015102.5(NPHP4):c.3724G>A (p.Ala1242Thr)
|
rs370942610
|
0.00002
|
NM_015102.5(NPHP4):c.3816+5G>A
|
rs971158630
|
0.00002
|
NM_015102.5(NPHP4):c.394A>T (p.Ile132Phe)
|
rs745735818
|
0.00002
|
NM_015102.5(NPHP4):c.3977G>A (p.Arg1326His)
|
rs191062831
|
0.00002
|
NM_015102.5(NPHP4):c.4006A>G (p.Ile1336Val)
|
rs760369582
|
0.00002
|
NM_015102.5(NPHP4):c.4144G>A (p.Gly1382Arg)
|
rs761124428
|
0.00002
|
NM_015102.5(NPHP4):c.421G>A (p.Asp141Asn)
|
rs763993912
|
0.00002
|
NM_015102.5(NPHP4):c.518-2A>G
|
rs761142233
|
0.00002
|
NM_015102.5(NPHP4):c.578C>T (p.Pro193Leu)
|
rs779760001
|
0.00002
|
NM_015102.5(NPHP4):c.673+8C>T
|
rs747456645
|
0.00002
|
NM_015102.5(NPHP4):c.695G>A (p.Arg232His)
|
rs1221753633
|
0.00002
|
NM_015102.5(NPHP4):c.6C>T (p.Asn2=)
|
rs371472576
|
0.00002
|
NM_015102.5(NPHP4):c.845T>A (p.Ile282Asn)
|
rs753652250
|
0.00002
|
NM_015102.5(NPHP4):c.854G>A (p.Arg285Gln)
|
rs760388814
|
0.00002
|
NM_015102.5(NPHP4):c.910G>A (p.Val304Ile)
|
rs571395593
|
0.00002
|
NM_015102.5(NPHP4):c.992+10C>T
|
rs771032417
|
0.00002
|
NM_015102.5(NPHP4):c.992+2T>C
|
rs746243637
|
0.00002
|
NM_015102.5(NPHP4):c.1006G>C (p.Ala336Pro)
|
rs369951224
|
0.00001
|
NM_015102.5(NPHP4):c.1030C>T (p.Arg344Cys)
|
rs777428281
|
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.1075C>T (p.Gln359Ter)
|
rs1430741326
|
0.00001
|
NM_015102.5(NPHP4):c.1098C>T (p.Ser366=)
|
rs1449413890
|
0.00001
|
NM_015102.5(NPHP4):c.1119T>C (p.Asn373=)
|
rs957523362
|
0.00001
|
NM_015102.5(NPHP4):c.1120-7A>G
|
rs1223728002
|
0.00001
|
NM_015102.5(NPHP4):c.1128G>A (p.Ser376=)
|
rs757711149
|
0.00001
|
NM_015102.5(NPHP4):c.1147C>G (p.Leu383Val)
|
rs760606576
|
0.00001
|
NM_015102.5(NPHP4):c.1170C>T (p.Arg390=)
|
rs548306539
|
0.00001
|
NM_015102.5(NPHP4):c.1228C>T (p.Gln410Ter)
|
rs1237376396
|
0.00001
|
NM_015102.5(NPHP4):c.1253C>T (p.Ser418Leu)
|
rs767476133
|
0.00001
|
NM_015102.5(NPHP4):c.126A>G (p.Val42=)
|
rs1452420538
|
0.00001
|
NM_015102.5(NPHP4):c.1303-6T>C
|
rs368753607
|
0.00001
|
NM_015102.5(NPHP4):c.1327C>T (p.Leu443Phe)
|
rs756153293
|
0.00001
|
NM_015102.5(NPHP4):c.135+5C>G
|
rs201054350
|
0.00001
|
NM_015102.5(NPHP4):c.136-5C>T
|
rs1318593937
|
0.00001
|
NM_015102.5(NPHP4):c.1360C>T (p.His454Tyr)
|
rs374792772
|
0.00001
|
NM_015102.5(NPHP4):c.1377G>A (p.Thr459=)
|
rs769077319
|
0.00001
|
NM_015102.5(NPHP4):c.1388G>A (p.Ser463Asn)
|
rs894737324
|
0.00001
|
NM_015102.5(NPHP4):c.139G>A (p.Val47Met)
|
rs1288396418
|
0.00001
|
NM_015102.5(NPHP4):c.1405C>T (p.Arg469Trp)
|
rs758253306
|
0.00001
|
NM_015102.5(NPHP4):c.1406G>A (p.Arg469Gln)
|
rs1320696639
|
0.00001
|
NM_015102.5(NPHP4):c.1437T>A (p.Pro479=)
|
rs767115144
|
0.00001
|
NM_015102.5(NPHP4):c.1452G>A (p.Ala484=)
|
rs776922160
|
0.00001
|
NM_015102.5(NPHP4):c.1504-7C>T
|
rs1644953347
|
0.00001
|
NM_015102.5(NPHP4):c.1511T>G (p.Ile504Ser)
|
rs1209081705
|
0.00001
|
NM_015102.5(NPHP4):c.1532C>T (p.Pro511Leu)
|
rs761974713
|
0.00001
|
NM_015102.5(NPHP4):c.1571C>T (p.Ser524Leu)
|
rs1268005672
|
0.00001
|
NM_015102.5(NPHP4):c.1589C>T (p.Ser530Phe)
|
rs1484484784
|
0.00001
|
NM_015102.5(NPHP4):c.1602G>A (p.Pro534=)
|
rs1335554286
|
0.00001
|
NM_015102.5(NPHP4):c.1611+15C>T
|
rs1450540379
|
0.00001
|
NM_015102.5(NPHP4):c.1675G>A (p.Val559Ile)
|
rs931907795
|
0.00001
|
NM_015102.5(NPHP4):c.1710G>A (p.Glu570=)
|
rs768164283
|
0.00001
|
NM_015102.5(NPHP4):c.1716G>A (p.Pro572=)
|
rs980891508
|
0.00001
|
NM_015102.5(NPHP4):c.1725T>C (p.Pro575=)
|
rs376871620
|
0.00001
|
NM_015102.5(NPHP4):c.1763+16G>C
|
rs765362513
|
0.00001
|
NM_015102.5(NPHP4):c.1773G>A (p.Gly591=)
|
rs764039659
|
0.00001
|
NM_015102.5(NPHP4):c.1781C>T (p.Ser594Leu)
|
rs576761309
|
0.00001
|
NM_015102.5(NPHP4):c.1816T>C (p.Phe606Leu)
|
rs779132051
|
0.00001
|
NM_015102.5(NPHP4):c.1821C>T (p.Pro607=)
|
rs749297150
|
0.00001
|
NM_015102.5(NPHP4):c.1864G>A (p.Ala622Thr)
|
rs1270711258
|
0.00001
|
NM_015102.5(NPHP4):c.1880C>T (p.Thr627Met)
|
rs199891059
|
0.00001
|
NM_015102.5(NPHP4):c.1924G>A (p.Glu642Lys)
|
rs768739130
|
0.00001
|
NM_015102.5(NPHP4):c.2011C>T (p.Gln671Ter)
|
rs1025515771
|
0.00001
|
NM_015102.5(NPHP4):c.202C>T (p.Arg68Trp)
|
rs771873685
|
0.00001
|
NM_015102.5(NPHP4):c.2030C>T (p.Pro677Leu)
|
rs1205793319
|
0.00001
|
NM_015102.5(NPHP4):c.2036C>T (p.Thr679Met)
|
rs780615948
|
0.00001
|
NM_015102.5(NPHP4):c.2037G>A (p.Thr679=)
|
rs756780739
|
0.00001
|
NM_015102.5(NPHP4):c.203G>A (p.Arg68Gln)
|
rs761188193
|
0.00001
|
NM_015102.5(NPHP4):c.2044C>T (p.Arg682Ter)
|
rs137852920
|
0.00001
|
NM_015102.5(NPHP4):c.2051A>G (p.Gln684Arg)
|
rs200667197
|
0.00001
|
NM_015102.5(NPHP4):c.2073C>T (p.Ala691=)
|
rs773208084
|
0.00001
|
NM_015102.5(NPHP4):c.2092G>A (p.Ala698Thr)
|
rs1159326978
|
0.00001
|
NM_015102.5(NPHP4):c.2095C>T (p.Leu699=)
|
rs745467662
|
0.00001
|
NM_015102.5(NPHP4):c.20T>A (p.Ile7Asn)
|
rs375883167
|
0.00001
|
NM_015102.5(NPHP4):c.2143+12T>C
|
rs369095959
|
0.00001
|
NM_015102.5(NPHP4):c.2218C>T (p.Arg740Cys)
|
rs766088144
|
0.00001
|
NM_015102.5(NPHP4):c.222G>A (p.Thr74=)
|
rs768099247
|
0.00001
|
NM_015102.5(NPHP4):c.2237C>G (p.Thr746Ser)
|
rs780500004
|
0.00001
|
NM_015102.5(NPHP4):c.2251G>A (p.Val751Ile)
|
rs754838672
|
0.00001
|
NM_015102.5(NPHP4):c.2278A>G (p.Ile760Val)
|
rs1044293014
|
0.00001
|
NM_015102.5(NPHP4):c.2283A>C (p.Gly761=)
|
rs1644089451
|
0.00001
|
NM_015102.5(NPHP4):c.2304+5C>T
|
rs367651042
|
0.00001
|
NM_015102.5(NPHP4):c.2314C>T (p.Arg772Cys)
|
rs149928611
|
0.00001
|
NM_015102.5(NPHP4):c.2328G>A (p.Pro776=)
|
rs770986448
|
0.00001
|
NM_015102.5(NPHP4):c.2359G>A (p.Val787Met)
|
rs753373132
|
0.00001
|
NM_015102.5(NPHP4):c.2386A>G (p.Met796Val)
|
rs762272616
|
0.00001
|
NM_015102.5(NPHP4):c.2420G>A (p.Arg807His)
|
rs376079994
|
0.00001
|
NM_015102.5(NPHP4):c.2433C>T (p.Ile811=)
|
rs779482394
|
0.00001
|
NM_015102.5(NPHP4):c.2459G>A (p.Arg820Gln)
|
rs759656675
|
0.00001
|
NM_015102.5(NPHP4):c.2481C>T (p.Asn827=)
|
rs761721701
|
0.00001
|
NM_015102.5(NPHP4):c.2482G>A (p.Val828Met)
|
rs774129927
|
0.00001
|
NM_015102.5(NPHP4):c.2487T>C (p.Gly829=)
|
rs759022050
|
0.00001
|
NM_015102.5(NPHP4):c.2492C>T (p.Pro831Leu)
|
rs568060648
|
0.00001
|
NM_015102.5(NPHP4):c.2493G>A (p.Pro831=)
|
rs546616658
|
0.00001
|
NM_015102.5(NPHP4):c.255G>T (p.Pro85=)
|
rs753738829
|
0.00001
|
NM_015102.5(NPHP4):c.2579G>A (p.Gly860Glu)
|
rs1487910110
|
0.00001
|
NM_015102.5(NPHP4):c.2593A>C (p.Thr865Pro)
|
rs1254545749
|
0.00001
|
NM_015102.5(NPHP4):c.2595G>A (p.Thr865=)
|
rs1341561466
|
0.00001
|
NM_015102.5(NPHP4):c.2612-19C>T
|
rs370230211
|
0.00001
|
NM_015102.5(NPHP4):c.2612-20G>A
|
rs757890241
|
0.00001
|
NM_015102.5(NPHP4):c.2688G>T (p.Arg896=)
|
rs1421932012
|
0.00001
|
NM_015102.5(NPHP4):c.2698G>A (p.Gly900Arg)
|
rs1424882864
|
0.00001
|
NM_015102.5(NPHP4):c.2703C>T (p.Pro901=)
|
rs1200133332
|
0.00001
|
NM_015102.5(NPHP4):c.2710G>A (p.Val904Ile)
|
rs886046463
|
0.00001
|
NM_015102.5(NPHP4):c.2718C>T (p.Arg906=)
|
rs576473519
|
0.00001
|
NM_015102.5(NPHP4):c.2719G>A (p.Glu907Lys)
|
rs1310354413
|
0.00001
|
NM_015102.5(NPHP4):c.2725G>T (p.Asp909Tyr)
|
rs777493291
|
0.00001
|
NM_015102.5(NPHP4):c.2735G>A (p.Arg912His)
|
rs778343959
|
0.00001
|
NM_015102.5(NPHP4):c.2741G>A (p.Arg914His)
|
rs780517756
|
0.00001
|
NM_015102.5(NPHP4):c.2770C>G (p.Leu924Val)
|
rs770984804
|
0.00001
|
NM_015102.5(NPHP4):c.280-5T>G
|
rs908276068
|
0.00001
|
NM_015102.5(NPHP4):c.2823G>A (p.Gln941=)
|
rs1284379518
|
0.00001
|
NM_015102.5(NPHP4):c.2829C>T (p.Ser943=)
|
rs180721913
|
0.00001
|
NM_015102.5(NPHP4):c.283T>G (p.Leu95Val)
|
rs1384846275
|
0.00001
|
NM_015102.5(NPHP4):c.2844C>T (p.His948=)
|
rs1642441569
|
0.00001
|
NM_015102.5(NPHP4):c.2848C>T (p.Arg950Trp)
|
rs371939932
|
0.00001
|
NM_015102.5(NPHP4):c.2865C>T (p.Ile955=)
|
rs771271850
|
0.00001
|
NM_015102.5(NPHP4):c.2874C>T (p.Tyr958=)
|
rs375864811
|
0.00001
|
NM_015102.5(NPHP4):c.2906G>A (p.Ser969Asn)
|
rs770493717
|
0.00001
|
NM_015102.5(NPHP4):c.2946C>T (p.His982=)
|
rs766172633
|
0.00001
|
NM_015102.5(NPHP4):c.2959G>A (p.Val987Ile)
|
rs377683582
|
0.00001
|
NM_015102.5(NPHP4):c.301C>T (p.Leu101=)
|
rs1489058652
|
0.00001
|
NM_015102.5(NPHP4):c.3027C>T (p.Ile1009=)
|
rs762202268
|
0.00001
|
NM_015102.5(NPHP4):c.3039G>C (p.Glu1013Asp)
|
rs747091960
|
0.00001
|
NM_015102.5(NPHP4):c.3044+11_3044+13del
|
rs769643669
|
0.00001
|
NM_015102.5(NPHP4):c.3045-14A>G
|
rs938087895
|
0.00001
|
NM_015102.5(NPHP4):c.3045-16A>G
|
rs1232724119
|
0.00001
|
NM_015102.5(NPHP4):c.3089C>G (p.Ala1030Gly)
|
rs774683576
|
0.00001
|
NM_015102.5(NPHP4):c.309C>T (p.His103=)
|
rs762489156
|
0.00001
|
NM_015102.5(NPHP4):c.3122T>C (p.Phe1041Ser)
|
rs752229026
|
0.00001
|
NM_015102.5(NPHP4):c.3123C>T (p.Phe1041=)
|
rs779336075
|
0.00001
|
NM_015102.5(NPHP4):c.3231+14G>A
|
rs1270148989
|
0.00001
|
NM_015102.5(NPHP4):c.3234C>G (p.Ala1078=)
|
rs1036816659
|
0.00001
|
NM_015102.5(NPHP4):c.3262A>G (p.Met1088Val)
|
rs779109338
|
0.00001
|
NM_015102.5(NPHP4):c.3270C>T (p.Ala1090=)
|
rs767473811
|
0.00001
|
NM_015102.5(NPHP4):c.3271G>A (p.Val1091Met)
|
rs761546950
|
0.00001
|
NM_015102.5(NPHP4):c.3315+8G>A
|
rs1171727023
|
0.00001
|
NM_015102.5(NPHP4):c.3316-15G>A
|
rs745974669
|
0.00001
|
NM_015102.5(NPHP4):c.3330G>A (p.Ala1110=)
|
rs753585933
|
0.00001
|
NM_015102.5(NPHP4):c.3345C>T (p.Pro1115=)
|
rs1340607654
|
0.00001
|
NM_015102.5(NPHP4):c.3349G>A (p.Ala1117Thr)
|
rs764488616
|
0.00001
|
NM_015102.5(NPHP4):c.339C>T (p.Val113=)
|
rs771576802
|
0.00001
|
NM_015102.5(NPHP4):c.3404G>A (p.Arg1135His)
|
rs763251283
|
0.00001
|
NM_015102.5(NPHP4):c.3410A>G (p.Tyr1137Cys)
|
rs765444252
|
0.00001
|
NM_015102.5(NPHP4):c.3413A>T (p.His1138Leu)
|
rs200928069
|
0.00001
|
NM_015102.5(NPHP4):c.3416C>T (p.Pro1139Leu)
|
rs759737019
|
0.00001
|
NM_015102.5(NPHP4):c.3438G>A (p.Lys1146=)
|
rs760841174
|
0.00001
|
NM_015102.5(NPHP4):c.3446G>A (p.Arg1149His)
|
rs749025936
|
0.00001
|
NM_015102.5(NPHP4):c.3454C>T (p.Pro1152Ser)
|
rs560329867
|
0.00001
|
NM_015102.5(NPHP4):c.3472+2C>T
|
rs746549067
|
0.00001
|
NM_015102.5(NPHP4):c.3473-16A>G
|
rs376664242
|
0.00001
|
NM_015102.5(NPHP4):c.3473-3C>T
|
rs1304642945
|
0.00001
|
NM_015102.5(NPHP4):c.3476C>T (p.Ala1159Val)
|
rs369021103
|
0.00001
|
NM_015102.5(NPHP4):c.3512A>C (p.His1171Pro)
|
rs1036719782
|
0.00001
|
NM_015102.5(NPHP4):c.3530C>T (p.Pro1177Leu)
|
rs749612555
|
0.00001
|
NM_015102.5(NPHP4):c.3534C>T (p.Asn1178=)
|
rs372256326
|
0.00001
|
NM_015102.5(NPHP4):c.3558+8G>A
|
rs1349098317
|
0.00001
|
NM_015102.5(NPHP4):c.355C>T (p.Arg119Trp)
|
rs772214126
|
0.00001
|
NM_015102.5(NPHP4):c.3597C>T (p.Ala1199=)
|
rs933460121
|
0.00001
|
NM_015102.5(NPHP4):c.3634A>G (p.Ile1212Val)
|
rs960080480
|
0.00001
|
NM_015102.5(NPHP4):c.3636C>T (p.Ile1212=)
|
rs779900061
|
0.00001
|
NM_015102.5(NPHP4):c.3644+20G>A
|
rs1641222980
|
0.00001
|
NM_015102.5(NPHP4):c.3645-15C>T
|
rs558429618
|
0.00001
|
NM_015102.5(NPHP4):c.3650G>A (p.Arg1217His)
|
rs1389043961
|
0.00001
|
NM_015102.5(NPHP4):c.3696C>T (p.Ser1232=)
|
rs1641087208
|
0.00001
|
NM_015102.5(NPHP4):c.3704G>A (p.Arg1235His)
|
rs569553635
|
0.00001
|
NM_015102.5(NPHP4):c.3721G>A (p.Val1241Ile)
|
rs535789951
|
0.00001
|
NM_015102.5(NPHP4):c.3724G>T (p.Ala1242Ser)
|
rs370942610
|
0.00001
|
NM_015102.5(NPHP4):c.3728G>C (p.Gly1243Ala)
|
rs1331083721
|
0.00001
|
NM_015102.5(NPHP4):c.3766C>T (p.Gln1256Ter)
|
rs775612958
|
0.00001
|
NM_015102.5(NPHP4):c.3769A>T (p.Thr1257Ser)
|
rs770887836
|
0.00001
|
NM_015102.5(NPHP4):c.3801T>A (p.His1267Gln)
|
rs1212384350
|
0.00001
|
NM_015102.5(NPHP4):c.3804C>T (p.Pro1268=)
|
rs1279952528
|
0.00001
|
NM_015102.5(NPHP4):c.3816+4C>T
|
rs764632297
|
0.00001
|
NM_015102.5(NPHP4):c.3817-17C>G
|
rs1412557461
|
0.00001
|
NM_015102.5(NPHP4):c.3817-18C>T
|
rs1460884501
|
0.00001
|
NM_015102.5(NPHP4):c.3817-4G>C
|
rs748991363
|
0.00001
|
NM_015102.5(NPHP4):c.3841C>T (p.Leu1281=)
|
rs1640987777
|
0.00001
|
NM_015102.5(NPHP4):c.3845C>T (p.Pro1282Leu)
|
rs752820537
|
0.00001
|
NM_015102.5(NPHP4):c.3877G>A (p.Val1293Met)
|
rs769488870
|
0.00001
|
NM_015102.5(NPHP4):c.3910C>T (p.His1304Tyr)
|
rs1483940500
|
0.00001
|
NM_015102.5(NPHP4):c.3928G>A (p.Val1310Met)
|
rs1465549509
|
0.00001
|
NM_015102.5(NPHP4):c.3976C>T (p.Arg1326Cys)
|
rs531607950
|
0.00001
|
NM_015102.5(NPHP4):c.3982C>T (p.Pro1328Ser)
|
rs756207507
|
0.00001
|
NM_015102.5(NPHP4):c.3987C>T (p.Leu1329=)
|
rs1352217291
|
0.00001
|
NM_015102.5(NPHP4):c.3997-3C>T
|
rs991565030
|
0.00001
|
NM_015102.5(NPHP4):c.400C>T (p.Arg134Trp)
|
rs375476413
|
0.00001
|
NM_015102.5(NPHP4):c.4018G>A (p.Ala1340Thr)
|
rs958569972
|
0.00001
|
NM_015102.5(NPHP4):c.4023C>T (p.Gly1341=)
|
rs774866535
|
0.00001
|
NM_015102.5(NPHP4):c.4057A>G (p.Thr1353Ala)
|
rs950615557
|
0.00001
|
NM_015102.5(NPHP4):c.4113G>T (p.Leu1371=)
|
rs747099663
|
0.00001
|
NM_015102.5(NPHP4):c.4140+12C>T
|
rs750192016
|
0.00001
|
NM_015102.5(NPHP4):c.4140+3G>C
|
rs755849307
|
0.00001
|
NM_015102.5(NPHP4):c.4143C>T (p.Val1381=)
|
rs766613810
|
0.00001
|
NM_015102.5(NPHP4):c.4181C>T (p.Ala1394Val)
|
rs537985340
|
0.00001
|
NM_015102.5(NPHP4):c.4182G>A (p.Ala1394=)
|
rs754549864
|
0.00001
|
NM_015102.5(NPHP4):c.4199G>A (p.Gly1400Asp)
|
rs756370237
|
0.00001
|
NM_015102.5(NPHP4):c.4209G>A (p.Glu1403=)
|
rs1270648884
|
0.00001
|
NM_015102.5(NPHP4):c.420G>A (p.Pro140=)
|
rs377403419
|
0.00001
|
NM_015102.5(NPHP4):c.4221C>T (p.Tyr1407=)
|
rs767715436
|
0.00001
|
NM_015102.5(NPHP4):c.4239C>G (p.Asp1413Glu)
|
rs763112800
|
0.00001
|
NM_015102.5(NPHP4):c.4260C>T (p.Cys1420=)
|
rs376464726
|
0.00001
|
NM_015102.5(NPHP4):c.4267G>A (p.Val1423Ile)
|
rs1045851958
|
0.00001
|
NM_015102.5(NPHP4):c.452+3A>G
|
rs1426440104
|
0.00001
|
NM_015102.5(NPHP4):c.453-17T>C
|
rs201880900
|
0.00001
|
NM_015102.5(NPHP4):c.457C>T (p.Arg153Trp)
|
rs188946055
|
0.00001
|
NM_015102.5(NPHP4):c.492C>T (p.His164=)
|
rs863224422
|
0.00001
|
NM_015102.5(NPHP4):c.505G>C (p.Asp169His)
|
rs1237544876
|
0.00001
|
NM_015102.5(NPHP4):c.510C>T (p.Pro170=)
|
rs545943420
|
0.00001
|
NM_015102.5(NPHP4):c.512C>T (p.Ala171Val)
|
rs763307389
|
0.00001
|
NM_015102.5(NPHP4):c.518-6C>T
|
rs763077205
|
0.00001
|
NM_015102.5(NPHP4):c.51C>A (p.His17Gln)
|
rs766636945
|
0.00001
|
NM_015102.5(NPHP4):c.527A>G (p.His176Arg)
|
rs765166774
|
0.00001
|
NM_015102.5(NPHP4):c.559T>C (p.Tyr187His)
|
rs1027187670
|
0.00001
|
NM_015102.5(NPHP4):c.579G>A (p.Pro193=)
|
rs544402763
|
0.00001
|
NM_015102.5(NPHP4):c.625T>A (p.Ser209Thr)
|
rs776658669
|
0.00001
|
NM_015102.5(NPHP4):c.631C>G (p.Leu211Val)
|
rs766491055
|
0.00001
|
NM_015102.5(NPHP4):c.637C>G (p.Gln213Glu)
|
rs761724605
|
0.00001
|
NM_015102.5(NPHP4):c.673+13T>G
|
rs1164322936
|
0.00001
|
NM_015102.5(NPHP4):c.674-17C>T
|
rs778099003
|
0.00001
|
NM_015102.5(NPHP4):c.678C>T (p.Asp226=)
|
rs755363322
|
0.00001
|
NM_015102.5(NPHP4):c.685C>T (p.Arg229Ter)
|
rs780268322
|
0.00001
|
NM_015102.5(NPHP4):c.706C>T (p.Pro236Ser)
|
rs1384084291
|
0.00001
|
NM_015102.5(NPHP4):c.713C>T (p.Thr238Met)
|
rs752644932
|
0.00001
|
NM_015102.5(NPHP4):c.789C>T (p.His263=)
|
rs760440073
|
0.00001
|
NM_015102.5(NPHP4):c.796G>A (p.Asp266Asn)
|
rs372493501
|
0.00001
|
NM_015102.5(NPHP4):c.806A>C (p.Gln269Pro)
|
rs1182919955
|
0.00001
|
NM_015102.5(NPHP4):c.810+17G>A
|
rs1034034444
|
0.00001
|
NM_015102.5(NPHP4):c.811-7C>T
|
rs1647229524
|
0.00001
|
NM_015102.5(NPHP4):c.815G>A (p.Cys272Tyr)
|
rs1349348418
|
0.00001
|
NM_015102.5(NPHP4):c.821C>T (p.Pro274Leu)
|
rs752624938
|
0.00001
|
NM_015102.5(NPHP4):c.878A>G (p.Asn293Ser)
|
rs368886256
|
0.00001
|
NM_015102.5(NPHP4):c.879T>C (p.Asn293=)
|
rs892175467
|
0.00001
|
NM_015102.5(NPHP4):c.88G>A (p.Ala30Thr)
|
rs1187572016
|
0.00001
|
NM_015102.5(NPHP4):c.894G>A (p.Val298=)
|
rs964392787
|
0.00001
|
NM_015102.5(NPHP4):c.939C>T (p.Ala313=)
|
rs948992122
|
0.00001
|
NM_015102.5(NPHP4):c.967A>G (p.Lys323Glu)
|
rs763652381
|
0.00001
|
NM_015102.5(NPHP4):c.996C>T (p.Ser332=)
|
rs773569914
|
0.00001
|
NC_000001.10:g.(?_5923325)_(6022029_?)dup
|
|
|
NC_000001.10:g.(?_5923325)_(6046349_?)dup
|
|
|
NC_000001.10:g.(?_5933292)_(5940319_?)del
|
|
|
NC_000001.10:g.(?_5950908)_(5951108_?)del
|
|
|
NC_000001.10:g.(?_5964657)_(5969293_?)del
|
|
|
NC_000001.10:g.(?_5964816)_(6017448_?)del
|
|
|
NC_000001.11:g.(?_5978270)_(5978413_?)del
|
|
|
NC_000001.11:g.5927783_5927791dup
|
|
|
NM_015102.5(NPHP4):c.1017G>C (p.Leu339Phe)
|
rs769587826
|
|
NM_015102.5(NPHP4):c.1031G>T (p.Arg344Leu)
|
|
|
NM_015102.5(NPHP4):c.1032C>T (p.Arg344=)
|
|
|
NM_015102.5(NPHP4):c.1045G>A (p.Val349Ile)
|
|
|
NM_015102.5(NPHP4):c.1045G>T (p.Val349Phe)
|
|
|
NM_015102.5(NPHP4):c.1068C>T (p.Val356=)
|
rs1570580019
|
|
NM_015102.5(NPHP4):c.1081G>C (p.Glu361Gln)
|
rs2101924426
|
|
NM_015102.5(NPHP4):c.1082_1083dup (p.Tyr362fs)
|
rs2101924403
|
|
NM_015102.5(NPHP4):c.1086C>T (p.Tyr362=)
|
rs762252256
|
|
NM_015102.5(NPHP4):c.1104A>G (p.Ala368=)
|
|
|
NM_015102.5(NPHP4):c.1109T>A (p.Val370Glu)
|
rs2101923937
|
|
NM_015102.5(NPHP4):c.1113C>T (p.Asp371=)
|
|
|
NM_015102.5(NPHP4):c.1119+12C>T
|
|
|
NM_015102.5(NPHP4):c.1119+18G>A
|
rs1172328337
|
|
NM_015102.5(NPHP4):c.1119+19C>T
|
|
|
NM_015102.5(NPHP4):c.1119+6A>C
|
rs2101923698
|
|
NM_015102.5(NPHP4):c.1119+7A>G
|
|
|
NM_015102.5(NPHP4):c.1119T>G (p.Asn373Lys)
|
|
|
NM_015102.5(NPHP4):c.1128G>C (p.Ser376=)
|
rs757711149
|
|
NM_015102.5(NPHP4):c.1138C>G (p.Leu380Val)
|
|
|
NM_015102.5(NPHP4):c.1143C>T (p.Ser381=)
|
|
|
NM_015102.5(NPHP4):c.1152A>T (p.Ala384=)
|
|
|
NM_015102.5(NPHP4):c.1159C>G (p.His387Asp)
|
rs1041404643
|
|
NM_015102.5(NPHP4):c.115G>A (p.Asp39Asn)
|
|
|
NM_015102.5(NPHP4):c.1162A>C (p.Met388Leu)
|
|
|
NM_015102.5(NPHP4):c.1180T>G (p.Trp394Gly)
|
rs1646370640
|
|
NM_015102.5(NPHP4):c.1185C>T (p.Asn395=)
|
|
|
NM_015102.5(NPHP4):c.1199C>G (p.Ala400Gly)
|
|
|
NM_015102.5(NPHP4):c.1205C>G (p.Ser402Cys)
|
|
|
NM_015102.5(NPHP4):c.1212G>T (p.Arg404Ser)
|
rs1646368963
|
|
NM_015102.5(NPHP4):c.1226T>C (p.Leu409Pro)
|
rs1382775969
|
|
NM_015102.5(NPHP4):c.123G>A (p.Pro41=)
|
|
|
NM_015102.5(NPHP4):c.1243C>T (p.Pro415Ser)
|
rs1646366756
|
|
NM_015102.5(NPHP4):c.1254G>A (p.Ser418=)
|
|
|
NM_015102.5(NPHP4):c.1257C>T (p.His419=)
|
rs768393994
|
|
NM_015102.5(NPHP4):c.1264G>C (p.Val422Leu)
|
rs373905286
|
|
NM_015102.5(NPHP4):c.1270A>G (p.Lys424Glu)
|
rs1342432195
|
|
NM_015102.5(NPHP4):c.1271del (p.Lys424fs)
|
rs770306587
|
|
NM_015102.5(NPHP4):c.1292G>A (p.Ser431Asn)
|
|
|
NM_015102.5(NPHP4):c.1293C>G (p.Ser431Arg)
|
rs2101743229
|
|
NM_015102.5(NPHP4):c.1295C>T (p.Ser432Phe)
|
rs2101743191
|
|
NM_015102.5(NPHP4):c.12G>A (p.Trp4Ter)
|
rs780905861
|
|
NM_015102.5(NPHP4):c.1302+13G>C
|
|
|
NM_015102.5(NPHP4):c.1302+18T>A
|
|
|
NM_015102.5(NPHP4):c.1302+19C>T
|
rs1334902413
|
|
NM_015102.5(NPHP4):c.1312G>A (p.Val438Met)
|
|
|
NM_015102.5(NPHP4):c.1328T>A (p.Leu443His)
|
|
|
NM_015102.5(NPHP4):c.1340T>G (p.Phe447Cys)
|
rs1646081863
|
|
NM_015102.5(NPHP4):c.1344G>A (p.Ser448=)
|
rs765179963
|
|
NM_015102.5(NPHP4):c.1346T>A (p.Leu449Gln)
|
rs1437698448
|
|
NM_015102.5(NPHP4):c.1346T>C (p.Leu449Pro)
|
|
|
NM_015102.5(NPHP4):c.135+20G>A
|
|
|
NM_015102.5(NPHP4):c.135_135+14del
|
rs1557895715
|
|
NM_015102.5(NPHP4):c.135_135+8del
|
rs2102455183
|
|
NM_015102.5(NPHP4):c.136-10_136-3dup
|
rs1216905623
|
|
NM_015102.5(NPHP4):c.136-12G>A
|
rs371432148
|
|
NM_015102.5(NPHP4):c.136-12G>C
|
rs371432148
|
|
NM_015102.5(NPHP4):c.136-4del
|
rs143323188
|
|
NM_015102.5(NPHP4):c.1364T>G (p.Leu455Arg)
|
rs1646080043
|
|
NM_015102.5(NPHP4):c.1372C>A (p.Pro458Thr)
|
rs1488701326
|
|
NM_015102.5(NPHP4):c.1375A>C (p.Thr459Pro)
|
|
|
NM_015102.5(NPHP4):c.1376C>T (p.Thr459Met)
|
rs371819898
|
|
NM_015102.5(NPHP4):c.1380G>A (p.Glu460=)
|
rs367632543
|
|
NM_015102.5(NPHP4):c.139G>T (p.Val47Leu)
|
rs1288396418
|
|
NM_015102.5(NPHP4):c.1415C>G (p.Ser472Cys)
|
|
|
NM_015102.5(NPHP4):c.1417A>G (p.Arg473Gly)
|
|
|
NM_015102.5(NPHP4):c.1421_1423delinsCGTGG (p.Lys474fs)
|
rs1553178047
|
|
NM_015102.5(NPHP4):c.1427C>A (p.Pro476His)
|
rs534853218
|
|
NM_015102.5(NPHP4):c.1441+10T>C
|
|
|
NM_015102.5(NPHP4):c.1442-12G>A
|
|
|
NM_015102.5(NPHP4):c.1442-18C>T
|
|
|
NM_015102.5(NPHP4):c.1442G>A (p.Ser481Asn)
|
rs1645059863
|
|
NM_015102.5(NPHP4):c.1446G>A (p.Pro482=)
|
rs758600868
|
|
NM_015102.5(NPHP4):c.1455A>C (p.Pro485=)
|
rs369748651
|
|
NM_015102.5(NPHP4):c.1455A>T (p.Pro485=)
|
|
|
NM_015102.5(NPHP4):c.1462C>G (p.Arg488Gly)
|
rs778043242
|
|
NM_015102.5(NPHP4):c.1463G>A (p.Arg488Gln)
|
rs375429200
|
|
NM_015102.5(NPHP4):c.1463G>C (p.Arg488Pro)
|
rs375429200
|
|
NM_015102.5(NPHP4):c.1469T>C (p.Leu490Pro)
|
rs537135377
|
|
NM_015102.5(NPHP4):c.1473T>C (p.Ala491=)
|
|
|
NM_015102.5(NPHP4):c.1476C>A (p.Ala492=)
|
rs2101236808
|
|
NM_015102.5(NPHP4):c.1479G>A (p.Pro493=)
|
rs201499649
|
|
NM_015102.5(NPHP4):c.1489C>A (p.Pro497Thr)
|
|
|
NM_015102.5(NPHP4):c.1500del (p.Leu502fs)
|
|
|
NM_015102.5(NPHP4):c.1503+14C>T
|
|
|
NM_015102.5(NPHP4):c.1503+15C>T
|
|
|
NM_015102.5(NPHP4):c.1503+16C>T
|
|
|
NM_015102.5(NPHP4):c.1503+17dup
|
rs756154468
|
|
NM_015102.5(NPHP4):c.1503+1G>T
|
|
|
NM_015102.5(NPHP4):c.1503+3A>C
|
rs1184570247
|
|
NM_015102.5(NPHP4):c.1503+9A>C
|
|
|
NM_015102.5(NPHP4):c.1504-13T>G
|
|
|
NM_015102.5(NPHP4):c.1504-14C>G
|
rs1453262255
|
|
NM_015102.5(NPHP4):c.1504-17G>T
|
|
|
NM_015102.5(NPHP4):c.1510A>G (p.Ile504Val)
|
|
|
NM_015102.5(NPHP4):c.1518G>A (p.Gln506=)
|
|
|
NM_015102.5(NPHP4):c.1523C>T (p.Ala508Val)
|
rs766910538
|
|
NM_015102.5(NPHP4):c.1525G>T (p.Ala509Ser)
|
|
|
NM_015102.5(NPHP4):c.1532C>G (p.Pro511Arg)
|
rs761974713
|
|
NM_015102.5(NPHP4):c.1534C>T (p.Arg512Trp)
|
rs769747675
|
|
NM_015102.5(NPHP4):c.1536G>A (p.Arg512=)
|
rs368436034
|
|
NM_015102.5(NPHP4):c.1548G>A (p.Gln516=)
|
|
|
NM_015102.5(NPHP4):c.1561A>T (p.Arg521Trp)
|
|
|
NM_015102.5(NPHP4):c.1567A>G (p.Thr523Ala)
|
|
|
NM_015102.5(NPHP4):c.1575G>A (p.Gln525=)
|
|
|
NM_015102.5(NPHP4):c.1585G>C (p.Gly529Arg)
|
rs750626428
|
|
NM_015102.5(NPHP4):c.1596C>T (p.Ala532=)
|
|
|
NM_015102.5(NPHP4):c.1601C>T (p.Pro534Leu)
|
|
|
NM_015102.5(NPHP4):c.1603G>C (p.Ala535Pro)
|
rs1644945043
|
|
NM_015102.5(NPHP4):c.1611+12C>T
|
rs2101170399
|
|
NM_015102.5(NPHP4):c.1611+3A>C
|
|
|
NM_015102.5(NPHP4):c.1612-12C>T
|
|
|
NM_015102.5(NPHP4):c.1612-14C>G
|
rs540070179
|
|
NM_015102.5(NPHP4):c.1612-7dup
|
rs775954365
|
|
NM_015102.5(NPHP4):c.1617G>T (p.Glu539Asp)
|
|
|
NM_015102.5(NPHP4):c.1633G>A (p.Gly545Ser)
|
|
|
NM_015102.5(NPHP4):c.1635T>C (p.Gly545=)
|
|
|
NM_015102.5(NPHP4):c.1663C>G (p.Gln555Glu)
|
rs1369972493
|
|
NM_015102.5(NPHP4):c.1665G>C (p.Gln555His)
|
|
|
NM_015102.5(NPHP4):c.1669T>C (p.Ser557Pro)
|
|
|
NM_015102.5(NPHP4):c.1674G>A (p.Leu558=)
|
|
|
NM_015102.5(NPHP4):c.168C>T (p.Cys56=)
|
|
|
NM_015102.5(NPHP4):c.1691T>C (p.Ile564Thr)
|
|
|
NM_015102.5(NPHP4):c.1692_1704del (p.Ala565fs)
|
|
|
NM_015102.5(NPHP4):c.1701G>A (p.Gln567=)
|
|
|
NM_015102.5(NPHP4):c.1704dup (p.Gln569fs)
|
|
|
NM_015102.5(NPHP4):c.1705C>T (p.Gln569Ter)
|
rs113413307
|
|
NM_015102.5(NPHP4):c.1715C>A (p.Pro572Gln)
|
rs183722664
|
|
NM_015102.5(NPHP4):c.1715del (p.Pro572fs)
|
|
|
NM_015102.5(NPHP4):c.1716G>C (p.Pro572=)
|
|
|
NM_015102.5(NPHP4):c.1721C>T (p.Thr574Met)
|
|
|
NM_015102.5(NPHP4):c.1722G>A (p.Thr574=)
|
rs1191733336
|
|
NM_015102.5(NPHP4):c.1732G>C (p.Ala578Pro)
|
rs1557700541
|
|
NM_015102.5(NPHP4):c.1733C>T (p.Ala578Val)
|
|
|
NM_015102.5(NPHP4):c.1734C>T (p.Ala578=)
|
rs1259213564
|
|
NM_015102.5(NPHP4):c.1736C>A (p.Pro579His)
|
rs2101139333
|
|
NM_015102.5(NPHP4):c.1737T>C (p.Pro579=)
|
rs1644880136
|
|
NM_015102.5(NPHP4):c.1740TGT[1] (p.Val582del)
|
rs1282891020
|
|
NM_015102.5(NPHP4):c.174G>A (p.Leu58=)
|
|
|
NM_015102.5(NPHP4):c.1752C>T (p.Thr584=)
|
rs1443618180
|
|
NM_015102.5(NPHP4):c.175C>T (p.Arg59Ter)
|
rs753774833
|
|
NM_015102.5(NPHP4):c.1764-15G>C
|
|
|
NM_015102.5(NPHP4):c.1764-18G>A
|
|
|
NM_015102.5(NPHP4):c.1764-7_1764-6del
|
|
|
NM_015102.5(NPHP4):c.1773G>T (p.Gly591=)
|
rs764039659
|
|
NM_015102.5(NPHP4):c.1782G>A (p.Ser594=)
|
rs1644869198
|
|
NM_015102.5(NPHP4):c.1791C>T (p.Ser597=)
|
|
|
NM_015102.5(NPHP4):c.1792A>G (p.Met598Val)
|
rs926493923
|
|
NM_015102.5(NPHP4):c.1804C>T (p.Gln602Ter)
|
|
|
NM_015102.5(NPHP4):c.1811C>T (p.Ser604Phe)
|
|
|
NM_015102.5(NPHP4):c.1820C>T (p.Pro607Leu)
|
|
|
NM_015102.5(NPHP4):c.1821C>G (p.Pro607=)
|
rs749297150
|
|
NM_015102.5(NPHP4):c.1831G>C (p.Asp611His)
|
|
|
NM_015102.5(NPHP4):c.1836C>T (p.Ala612=)
|
|
|
NM_015102.5(NPHP4):c.1838A>G (p.Asn613Ser)
|
rs1557699489
|
|
NM_015102.5(NPHP4):c.1846C>G (p.Pro616Ala)
|
|
|
NM_015102.5(NPHP4):c.1881G>A (p.Thr627=)
|
|
|
NM_015102.5(NPHP4):c.1888C>A (p.Pro630Thr)
|
|
|
NM_015102.5(NPHP4):c.1899A>G (p.Glu633=)
|
rs1373373477
|
|
NM_015102.5(NPHP4):c.189_192del (p.Phe63fs)
|
rs1553200990
|
|
NM_015102.5(NPHP4):c.1906G>A (p.Asp636Asn)
|
|
|
NM_015102.5(NPHP4):c.192T>C (p.Asp64=)
|
|
|
NM_015102.5(NPHP4):c.1936C>T (p.Gln646Ter)
|
rs2101131514
|
|
NM_015102.5(NPHP4):c.1949T>G (p.Phe650Cys)
|
rs1644859413
|
|
NM_015102.5(NPHP4):c.1955+11G>C
|
|
|
NM_015102.5(NPHP4):c.1955+3A>G
|
|
|
NM_015102.5(NPHP4):c.1956-3C>T
|
|
|
NM_015102.5(NPHP4):c.1957G>C (p.Val653Leu)
|
rs1644835961
|
|
NM_015102.5(NPHP4):c.1959G>A (p.Val653=)
|
|
|
NM_015102.5(NPHP4):c.1967A>G (p.Asp656Gly)
|
|
|
NM_015102.5(NPHP4):c.1998_1999del (p.Tyr667fs)
|
rs1644833186
|
|
NM_015102.5(NPHP4):c.2007del (p.Phe670fs)
|
rs1235304713
|
|
NM_015102.5(NPHP4):c.2013G>C (p.Gln671His)
|
|
|
NM_015102.5(NPHP4):c.2021G>A (p.Arg674His)
|
rs375416303
|
|
NM_015102.5(NPHP4):c.2021G>T (p.Arg674Leu)
|
rs375416303
|
|
NM_015102.5(NPHP4):c.2026_2027del (p.Pro676fs)
|
|
|
NM_015102.5(NPHP4):c.2029C>T (p.Pro677Ser)
|
rs547495754
|
|
NM_015102.5(NPHP4):c.202C>A (p.Arg68=)
|
rs771873685
|
|
NM_015102.5(NPHP4):c.202dup (p.Arg68fs)
|
|
|
NM_015102.5(NPHP4):c.2034A>G (p.Ala678=)
|
|
|
NM_015102.5(NPHP4):c.2040G>A (p.Thr680=)
|
|
|
NM_015102.5(NPHP4):c.2045G>C (p.Arg682Pro)
|
rs543023683
|
|
NM_015102.5(NPHP4):c.2053C>T (p.Leu685=)
|
|
|
NM_015102.5(NPHP4):c.2055G>C (p.Leu685=)
|
|
|
NM_015102.5(NPHP4):c.2061G>A (p.Gln687=)
|
|
|
NM_015102.5(NPHP4):c.2066A>G (p.Asp689Gly)
|
|
|
NM_015102.5(NPHP4):c.2077_2082dup (p.Gln693_Pro694dup)
|
rs2101120687
|
|
NM_015102.5(NPHP4):c.2093C>A (p.Ala698Asp)
|
rs745698836
|
|
NM_015102.5(NPHP4):c.210C>G (p.Phe70Leu)
|
rs2102372665
|
|
NM_015102.5(NPHP4):c.2110G>A (p.Val704Met)
|
|
|
NM_015102.5(NPHP4):c.2110G>C (p.Val704Leu)
|
|
|
NM_015102.5(NPHP4):c.2116G>A (p.Val706Met)
|
rs755418982
|
|
NM_015102.5(NPHP4):c.2117T>G (p.Val706Gly)
|
|
|
NM_015102.5(NPHP4):c.2125G>A (p.Asp709Asn)
|
rs1282597137
|
|
NM_015102.5(NPHP4):c.2126A>C (p.Asp709Ala)
|
rs926092150
|
|
NM_015102.5(NPHP4):c.2126A>T (p.Asp709Val)
|
rs926092150
|
|
NM_015102.5(NPHP4):c.212T>G (p.Phe71Cys)
|
|
|
NM_015102.5(NPHP4):c.2131A>G (p.Thr711Ala)
|
|
|
NM_015102.5(NPHP4):c.2133C>A (p.Thr711=)
|
|
|
NM_015102.5(NPHP4):c.2143+10C>T
|
|
|
NM_015102.5(NPHP4):c.2143+13G>C
|
|
|
NM_015102.5(NPHP4):c.2143+18T>G
|
|
|
NM_015102.5(NPHP4):c.2143+9T>C
|
rs1432441904
|
|
NM_015102.5(NPHP4):c.2144-18T>C
|
rs2100923352
|
|
NM_015102.5(NPHP4):c.2144-1G>A
|
|
|
NM_015102.5(NPHP4):c.2144-5G>A
|
|
|
NM_015102.5(NPHP4):c.2155T>G (p.Phe719Val)
|
rs1644098679
|
|
NM_015102.5(NPHP4):c.2162T>A (p.Leu721Gln)
|
rs2100922749
|
|
NM_015102.5(NPHP4):c.2163G>C (p.Leu721=)
|
|
|
NM_015102.5(NPHP4):c.2170A>G (p.Met724Val)
|
rs886598057
|
|
NM_015102.5(NPHP4):c.2184G>A (p.Gly728=)
|
rs1475748304
|
|
NM_015102.5(NPHP4):c.2186T>C (p.Phe729Ser)
|
rs1260036696
|
|
NM_015102.5(NPHP4):c.218G>C (p.Arg73Thr)
|
|
|
NM_015102.5(NPHP4):c.2196A>G (p.Pro732=)
|
rs994648684
|
|
NM_015102.5(NPHP4):c.2204G>C (p.Arg735Pro)
|
rs1277193938
|
|
NM_015102.5(NPHP4):c.2207G>A (p.Arg736His)
|
rs759527356
|
|
NM_015102.5(NPHP4):c.2217C>T (p.Ala739=)
|
|
|
NM_015102.5(NPHP4):c.2218C>G (p.Arg740Gly)
|
|
|
NM_015102.5(NPHP4):c.2241_2242delinsAA (p.Gln748Lys)
|
rs2100920979
|
|
NM_015102.5(NPHP4):c.2250C>T (p.Asp750=)
|
rs201090359
|
|
NM_015102.5(NPHP4):c.2253C>G (p.Val751=)
|
rs375109277
|
|
NM_015102.5(NPHP4):c.2267C>T (p.Ser756Phe)
|
rs773994262
|
|
NM_015102.5(NPHP4):c.2275C>T (p.Leu759Phe)
|
|
|
NM_015102.5(NPHP4):c.2277C>T (p.Leu759=)
|
|
|
NM_015102.5(NPHP4):c.2278A>C (p.Ile760Leu)
|
rs1044293014
|
|
NM_015102.5(NPHP4):c.2287G>A (p.Ala763Thr)
|
rs1644089326
|
|
NM_015102.5(NPHP4):c.2289T>C (p.Ala763=)
|
rs1161995349
|
|
NM_015102.5(NPHP4):c.228A>G (p.Lys76=)
|
rs749799634
|
|
NM_015102.5(NPHP4):c.2299A>T (p.Met767Leu)
|
rs1485681184
|
|
NM_015102.5(NPHP4):c.2304+1G>A
|
rs757412845
|
|
NM_015102.5(NPHP4):c.2305-10T>G
|
|
|
NM_015102.5(NPHP4):c.2305-13T>C
|
|
|
NM_015102.5(NPHP4):c.2305-18C>T
|
rs369699238
|
|
NM_015102.5(NPHP4):c.2305-5T>C
|
|
|
NM_015102.5(NPHP4):c.2309T>C (p.Leu770Pro)
|
|
|
NM_015102.5(NPHP4):c.2312T>A (p.Leu771His)
|
rs1237462272
|
|
NM_015102.5(NPHP4):c.2316C>T (p.Arg772=)
|
|
|
NM_015102.5(NPHP4):c.2324G>A (p.Arg775Gln)
|
|
|
NM_015102.5(NPHP4):c.2324G>T (p.Arg775Leu)
|
rs1034438971
|
|
NM_015102.5(NPHP4):c.2327C>G (p.Pro776Arg)
|
rs201527181
|
|
NM_015102.5(NPHP4):c.2327C>T (p.Pro776Leu)
|
rs201527181
|
|
NM_015102.5(NPHP4):c.2352T>G (p.Leu784=)
|
rs1570250696
|
|
NM_015102.5(NPHP4):c.2358_2360del (p.Val787del)
|
rs751681273
|
|
NM_015102.5(NPHP4):c.236T>G (p.Val79Gly)
|
rs2102372361
|
|
NM_015102.5(NPHP4):c.2374G>A (p.Glu792Lys)
|
rs764028061
|
|
NM_015102.5(NPHP4):c.2377C>T (p.Gln793Ter)
|
rs137852919
|
|
NM_015102.5(NPHP4):c.2378A>G (p.Gln793Arg)
|
rs368049363
|
|
NM_015102.5(NPHP4):c.2387T>C (p.Met796Thr)
|
|
|
NM_015102.5(NPHP4):c.2405T>C (p.Met802Thr)
|
|
|
NM_015102.5(NPHP4):c.2419C>A (p.Arg807Ser)
|
rs770004315
|
|
NM_015102.5(NPHP4):c.241_249del (p.Pro81_Lys83del)
|
|
|
NM_015102.5(NPHP4):c.2426A>C (p.Lys809Thr)
|
|
|
NM_015102.5(NPHP4):c.2426A>G (p.Lys809Arg)
|
rs747951355
|
|
NM_015102.5(NPHP4):c.2426A>T (p.Lys809Met)
|
rs747951355
|
|
NM_015102.5(NPHP4):c.2428C>G (p.Pro810Ala)
|
rs1643876772
|
|
NM_015102.5(NPHP4):c.242C>T (p.Pro81Leu)
|
rs375278331
|
|
NM_015102.5(NPHP4):c.2435G>A (p.Gly812Asp)
|
|
|
NM_015102.5(NPHP4):c.243G>A (p.Pro81=)
|
|
|
NM_015102.5(NPHP4):c.2447T>A (p.Val816Glu)
|
rs1217129334
|
|
NM_015102.5(NPHP4):c.2451G>T (p.Val817=)
|
|
|
NM_015102.5(NPHP4):c.245C>T (p.Thr82Met)
|
|
|
NM_015102.5(NPHP4):c.2481C>G (p.Asn827Lys)
|
rs761721701
|
|
NM_015102.5(NPHP4):c.2482G>C (p.Val828Leu)
|
rs774129927
|
|
NM_015102.5(NPHP4):c.2485+20T>G
|
|
|
NM_015102.5(NPHP4):c.2485+7G>A
|
rs1570249475
|
|
NM_015102.5(NPHP4):c.2486-13G>A
|
|
|
NM_015102.5(NPHP4):c.2486-7C>T
|
|
|
NM_015102.5(NPHP4):c.248_250del (p.Lys83del)
|
|
|
NM_015102.5(NPHP4):c.249G>C (p.Lys83Asn)
|
|
|
NM_015102.5(NPHP4):c.2538A>G (p.Arg846=)
|
rs1361552241
|
|
NM_015102.5(NPHP4):c.2547C>G (p.Val849=)
|
rs2100735068
|
|
NM_015102.5(NPHP4):c.255G>A (p.Pro85=)
|
rs753738829
|
|
NM_015102.5(NPHP4):c.2570G>A (p.Arg857His)
|
|
|
NM_015102.5(NPHP4):c.2574C>T (p.Phe858=)
|
rs756412252
|
|
NM_015102.5(NPHP4):c.257_258del (p.Pro86fs)
|
|
|
NM_015102.5(NPHP4):c.2587C>A (p.Leu863Ile)
|
|
|
NM_015102.5(NPHP4):c.2592C>T (p.Leu864=)
|
rs2100734173
|
|
NM_015102.5(NPHP4):c.2609G>A (p.Arg870Lys)
|
rs993280899
|
|
NM_015102.5(NPHP4):c.2611+11A>G
|
|
|
NM_015102.5(NPHP4):c.2611+16T>G
|
rs1171703016
|
|
NM_015102.5(NPHP4):c.2611+19G>T
|
|
|
NM_015102.5(NPHP4):c.2611+1G>C
|
rs374141736
|
|
NM_015102.5(NPHP4):c.2611+2_2611+3del
|
rs2100733763
|
|
NM_015102.5(NPHP4):c.2611C>T (p.Arg871Ter)
|
rs2100733826
|
|
NM_015102.5(NPHP4):c.2612-15C>T
|
|
|
NM_015102.5(NPHP4):c.2612-4G>A
|
rs776912822
|
|
NM_015102.5(NPHP4):c.2612-4G>T
|
rs776912822
|
|
NM_015102.5(NPHP4):c.261C>T (p.Ser87=)
|
|
|
NM_015102.5(NPHP4):c.2622G>A (p.Val874=)
|
|
|
NM_015102.5(NPHP4):c.2626C>T (p.Gln876Ter)
|
rs2100678099
|
|
NM_015102.5(NPHP4):c.263G>A (p.Arg88Lys)
|
rs886044065
|
|
NM_015102.5(NPHP4):c.2651A>G (p.Asp884Gly)
|
rs1642710907
|
|
NM_015102.5(NPHP4):c.2660T>A (p.Leu887Gln)
|
|
|
NM_015102.5(NPHP4):c.2673A>G (p.Leu891=)
|
rs974196549
|
|
NM_015102.5(NPHP4):c.2673_2675dup (p.Leu892_Thr893insLeu)
|
|
|
NM_015102.5(NPHP4):c.2674C>G (p.Leu892Val)
|
rs752244601
|
|
NM_015102.5(NPHP4):c.2679C>T (p.Thr893=)
|
|
|
NM_015102.5(NPHP4):c.268G>C (p.Val90Leu)
|
rs561876203
|
|
NM_015102.5(NPHP4):c.2694C>A (p.Gly898=)
|
rs2100676429
|
|
NM_015102.5(NPHP4):c.2709C>T (p.Asp903=)
|
|
|
NM_015102.5(NPHP4):c.2734C>G (p.Arg912Gly)
|
rs368106760
|
|
NM_015102.5(NPHP4):c.2736C>G (p.Arg912=)
|
|
|
NM_015102.5(NPHP4):c.2754G>A (p.Arg918=)
|
|
|
NM_015102.5(NPHP4):c.2758A>C (p.Arg920=)
|
|
|
NM_015102.5(NPHP4):c.2767C>T (p.Arg923Cys)
|
|
|
NM_015102.5(NPHP4):c.2773C>T (p.Gln925Ter)
|
|
|
NM_015102.5(NPHP4):c.279+1G>A
|
|
|
NM_015102.5(NPHP4):c.279+7C>T
|
rs1275766996
|
|
NM_015102.5(NPHP4):c.279+8C>T
|
rs1213477175
|
|
NM_015102.5(NPHP4):c.280-14C>T
|
|
|
NM_015102.5(NPHP4):c.280-15G>A
|
rs1652119565
|
|
NM_015102.5(NPHP4):c.280-1G>C
|
rs1652115764
|
|
NM_015102.5(NPHP4):c.280-20C>T
|
|
|
NM_015102.5(NPHP4):c.280-4G>T
|
rs190495420
|
|
NM_015102.5(NPHP4):c.280-7T>G
|
|
|
NM_015102.5(NPHP4):c.2807C>A (p.Thr936Lys)
|
rs201074950
|
|
NM_015102.5(NPHP4):c.2809A>G (p.Ser937Gly)
|
|
|
NM_015102.5(NPHP4):c.2812G>C (p.Val938Leu)
|
rs184961418
|
|
NM_015102.5(NPHP4):c.2817+16G>A
|
|
|
NM_015102.5(NPHP4):c.2817+1G>A
|
|
|
NM_015102.5(NPHP4):c.2817+6G>A
|
rs1642683309
|
|
NM_015102.5(NPHP4):c.2818-15T>C
|
|
|
NM_015102.5(NPHP4):c.2818-15T>G
|
|
|
NM_015102.5(NPHP4):c.2818-18A>G
|
|
|
NM_015102.5(NPHP4):c.2818-19C>G
|
|
|
NM_015102.5(NPHP4):c.2818-8G>C
|
|
|
NM_015102.5(NPHP4):c.2819C>A (p.Ala940Glu)
|
rs200136271
|
|
NM_015102.5(NPHP4):c.2821_2822insT (p.Gln941fs)
|
|
|
NM_015102.5(NPHP4):c.2876G>C (p.Arg959Pro)
|
rs12084067
|
|
NM_015102.5(NPHP4):c.2877G>C (p.Arg959=)
|
rs753858949
|
|
NM_015102.5(NPHP4):c.2890G>C (p.Ala964Pro)
|
|
|
NM_015102.5(NPHP4):c.2908dup (p.Leu970fs)
|
rs1168286961
|
|
NM_015102.5(NPHP4):c.2921C>T (p.Ala974Val)
|
|
|
NM_015102.5(NPHP4):c.2929A>G (p.Thr977Ala)
|
|
|
NM_015102.5(NPHP4):c.2932G>C (p.Glu978Gln)
|
rs1281788268
|
|
NM_015102.5(NPHP4):c.2934G>A (p.Glu978=)
|
|
|
NM_015102.5(NPHP4):c.2940_2944dup (p.His982fs)
|
rs398124289
|
|
NM_015102.5(NPHP4):c.2941C>G (p.Leu981Val)
|
|
|
NM_015102.5(NPHP4):c.2947G>C (p.Ala983Pro)
|
rs760239548
|
|
NM_015102.5(NPHP4):c.294C>T (p.His98=)
|
rs1652112362
|
|
NM_015102.5(NPHP4):c.2962G>T (p.Ala988Ser)
|
rs770053255
|
|
NM_015102.5(NPHP4):c.2982G>T (p.Val994=)
|
|
|
NM_015102.5(NPHP4):c.2993C>G (p.Pro998Arg)
|
|
|
NM_015102.5(NPHP4):c.3018T>C (p.Thr1006=)
|
|
|
NM_015102.5(NPHP4):c.3027C>A (p.Ile1009=)
|
rs762202268
|
|
NM_015102.5(NPHP4):c.3027C>G (p.Ile1009Met)
|
rs762202268
|
|
NM_015102.5(NPHP4):c.3030C>T (p.Asp1010=)
|
rs2100630935
|
|
NM_015102.5(NPHP4):c.3036C>G (p.Pro1012=)
|
rs34265978
|
|
NM_015102.5(NPHP4):c.3044+10C>T
|
|
|
NM_015102.5(NPHP4):c.3044+11A>G
|
|
|
NM_015102.5(NPHP4):c.3044+17G>A
|
|
|
NM_015102.5(NPHP4):c.3044+1G>T
|
|
|
NM_015102.5(NPHP4):c.3044+7T>C
|
|
|
NM_015102.5(NPHP4):c.3045-4C>G
|
rs886046462
|
|
NM_015102.5(NPHP4):c.3063G>A (p.Gln1021=)
|
|
|
NM_015102.5(NPHP4):c.3082G>A (p.Gly1028Ser)
|
rs1557616048
|
|
NM_015102.5(NPHP4):c.3083del (p.Gly1028fs)
|
rs1557616007
|
|
NM_015102.5(NPHP4):c.3083dup (p.Ala1029fs)
|
|
|
NM_015102.5(NPHP4):c.3096G>A (p.Leu1032=)
|
|
|
NM_015102.5(NPHP4):c.310C>G (p.Pro104Ala)
|
rs1286255762
|
|
NM_015102.5(NPHP4):c.3114G>A (p.Glu1038=)
|
rs2100621671
|
|
NM_015102.5(NPHP4):c.3117C>T (p.Asp1039=)
|
|
|
NM_015102.5(NPHP4):c.3121T>C (p.Phe1041Leu)
|
|
|
NM_015102.5(NPHP4):c.3128T>C (p.Leu1043Pro)
|
rs755481438
|
|
NM_015102.5(NPHP4):c.3136A>T (p.Ser1046Cys)
|
|
|
NM_015102.5(NPHP4):c.3138C>G (p.Ser1046Arg)
|
|
|
NM_015102.5(NPHP4):c.3144C>G (p.Ala1048=)
|
rs540738356
|
|
NM_015102.5(NPHP4):c.3144C>T (p.Ala1048=)
|
rs540738356
|
|
NM_015102.5(NPHP4):c.3146C>T (p.Pro1049Leu)
|
rs938043515
|
|
NM_015102.5(NPHP4):c.3148del (p.Gln1050fs)
|
|
|
NM_015102.5(NPHP4):c.3149A>C (p.Gln1050Pro)
|
rs2100620578
|
|
NM_015102.5(NPHP4):c.3163C>T (p.Pro1055Ser)
|
|
|
NM_015102.5(NPHP4):c.3168C>G (p.His1056Gln)
|
|
|
NM_015102.5(NPHP4):c.3174C>A (p.Thr1058=)
|
rs374354239
|
|
NM_015102.5(NPHP4):c.318C>A (p.Ile106=)
|
|
|
NM_015102.5(NPHP4):c.3196C>T (p.Gln1066Ter)
|
|
|
NM_015102.5(NPHP4):c.3203T>C (p.Phe1068Ser)
|
rs764323785
|
|
NM_015102.5(NPHP4):c.3203T>G (p.Phe1068Cys)
|
rs764323785
|
|
NM_015102.5(NPHP4):c.3206C>T (p.Ser1069Phe)
|
|
|
NM_015102.5(NPHP4):c.3211G>A (p.Gly1071Arg)
|
rs1642349499
|
|
NM_015102.5(NPHP4):c.3213G>A (p.Gly1071=)
|
|
|
NM_015102.5(NPHP4):c.3219G>A (p.Leu1073=)
|
rs1008653830
|
|
NM_015102.5(NPHP4):c.3223_3224delinsTG (p.Met1075Trp)
|
|
|
NM_015102.5(NPHP4):c.3231+19C>T
|
rs773830689
|
|
NM_015102.5(NPHP4):c.3231+1G>A
|
rs1642345798
|
|
NM_015102.5(NPHP4):c.3231+4C>T
|
|
|
NM_015102.5(NPHP4):c.3231+6G>A
|
|
|
NM_015102.5(NPHP4):c.3231+7dup
|
rs2100617783
|
|
NM_015102.5(NPHP4):c.3232-10del
|
rs757249675
|
|
NM_015102.5(NPHP4):c.3237T>C (p.Ser1079=)
|
rs941893164
|
|
NM_015102.5(NPHP4):c.3252C>G (p.Asn1084Lys)
|
rs778087914
|
|
NM_015102.5(NPHP4):c.3253G>A (p.Glu1085Lys)
|
rs1479758700
|
|
NM_015102.5(NPHP4):c.3261C>T (p.Gly1087=)
|
|
|
NM_015102.5(NPHP4):c.3272dup (p.Ser1092fs)
|
|
|
NM_015102.5(NPHP4):c.3274T>C (p.Ser1092Pro)
|
rs2100596464
|
|
NM_015102.5(NPHP4):c.3282G>A (p.Trp1094Ter)
|
rs763668545
|
|
NM_015102.5(NPHP4):c.3294A>G (p.Ala1098=)
|
rs1570122961
|
|
NM_015102.5(NPHP4):c.3299C>A (p.Pro1100His)
|
|
|
NM_015102.5(NPHP4):c.3301A>G (p.Thr1101Ala)
|
rs372569755
|
|
NM_015102.5(NPHP4):c.3312C>A (p.Ala1104=)
|
rs1359151965
|
|
NM_015102.5(NPHP4):c.3315+13C>T
|
|
|
NM_015102.5(NPHP4):c.3315+14G>A
|
|
|
NM_015102.5(NPHP4):c.3315+17G>A
|
|
|
NM_015102.5(NPHP4):c.3316-16C>T
|
|
|
NM_015102.5(NPHP4):c.3316G>T (p.Val1106Phe)
|
rs1641420975
|
|
NM_015102.5(NPHP4):c.3337G>A (p.Gly1113Ser)
|
rs2100470828
|
|
NM_015102.5(NPHP4):c.3338G>A (p.Gly1113Asp)
|
|
|
NM_015102.5(NPHP4):c.3360C>G (p.Cys1120Trp)
|
|
|
NM_015102.5(NPHP4):c.3368_3369del (p.Val1123fs)
|
rs1474013513
|
|
NM_015102.5(NPHP4):c.3373C>A (p.Leu1125Met)
|
rs2100469427
|
|
NM_015102.5(NPHP4):c.3379C>T (p.Pro1127Ser)
|
|
|
NM_015102.5(NPHP4):c.3381C>G (p.Pro1127=)
|
|
|
NM_015102.5(NPHP4):c.3384C>T (p.His1128=)
|
|
|
NM_015102.5(NPHP4):c.3388G>A (p.Val1130Met)
|
rs368313554
|
|
NM_015102.5(NPHP4):c.3389T>C (p.Val1130Ala)
|
rs752042066
|
|
NM_015102.5(NPHP4):c.3389T>G (p.Val1130Gly)
|
rs752042066
|
|
NM_015102.5(NPHP4):c.3390G>A (p.Val1130=)
|
rs2100468642
|
|
NM_015102.5(NPHP4):c.3393C>A (p.Asp1131Glu)
|
rs2100468544
|
|
NM_015102.5(NPHP4):c.3398T>C (p.Val1133Ala)
|
rs2100468384
|
|
NM_015102.5(NPHP4):c.3405C>T (p.Arg1135=)
|
|
|
NM_015102.5(NPHP4):c.3418G>T (p.Glu1140Ter)
|
|
|
NM_015102.5(NPHP4):c.3423C>T (p.Leu1141=)
|
|
|
NM_015102.5(NPHP4):c.343G>A (p.Glu115Lys)
|
|
|
NM_015102.5(NPHP4):c.3440C>T (p.Ala1147Val)
|
|
|
NM_015102.5(NPHP4):c.3441C>T (p.Ala1147=)
|
|
|
NM_015102.5(NPHP4):c.3450G>C (p.Leu1150=)
|
|
|
NM_015102.5(NPHP4):c.3458G>A (p.Trp1153Ter)
|
rs2100466824
|
|
NM_015102.5(NPHP4):c.3461A>G (p.His1154Arg)
|
|
|
NM_015102.5(NPHP4):c.3467T>A (p.Phe1156Tyr)
|
|
|
NM_015102.5(NPHP4):c.3472+12A>G
|
|
|
NM_015102.5(NPHP4):c.3472+18C>G
|
|
|
NM_015102.5(NPHP4):c.3472+19C>T
|
|
|
NM_015102.5(NPHP4):c.3473-1G>T
|
rs564232197
|
|
NM_015102.5(NPHP4):c.3473-21_3473-20del
|
|
|
NM_015102.5(NPHP4):c.3473-9C>G
|
rs1245769383
|
|
NM_015102.5(NPHP4):c.3480G>A (p.Pro1160=)
|
rs373955397
|
|
NM_015102.5(NPHP4):c.3484G>C (p.Gly1162Arg)
|
rs1304901558
|
|
NM_015102.5(NPHP4):c.3492T>C (p.Leu1164=)
|
rs750516114
|
|
NM_015102.5(NPHP4):c.3506del (p.Pro1169fs)
|
rs775221217
|
|
NM_015102.5(NPHP4):c.3506dup (p.Val1170fs)
|
|
|
NM_015102.5(NPHP4):c.3507A>G (p.Pro1169=)
|
rs1021024243
|
|
NM_015102.5(NPHP4):c.3508G>C (p.Val1170Leu)
|
|
|
NM_015102.5(NPHP4):c.3512A>T (p.His1171Leu)
|
rs1036719782
|
|
NM_015102.5(NPHP4):c.3517C>G (p.Arg1173Gly)
|
rs772682572
|
|
NM_015102.5(NPHP4):c.3519C>T (p.Arg1173=)
|
|
|
NM_015102.5(NPHP4):c.3521G>A (p.Cys1174Tyr)
|
rs1641309754
|
|
NM_015102.5(NPHP4):c.3521G>T (p.Cys1174Phe)
|
|
|
NM_015102.5(NPHP4):c.3525C>A (p.Ser1175Arg)
|
|
|
NM_015102.5(NPHP4):c.3528C>T (p.Asp1176=)
|
rs1570058481
|
|
NM_015102.5(NPHP4):c.3538A>T (p.Ile1180Phe)
|
rs956330607
|
|
NM_015102.5(NPHP4):c.3558+17C>T
|
|
|
NM_015102.5(NPHP4):c.3558+20C>T
|
|
|
NM_015102.5(NPHP4):c.3558+9T>C
|
rs2100448647
|
|
NM_015102.5(NPHP4):c.3559-4G>T
|
rs2100437350
|
|
NM_015102.5(NPHP4):c.3564C>A (p.Pro1188=)
|
rs528547815
|
|
NM_015102.5(NPHP4):c.3564C>T (p.Pro1188=)
|
rs528547815
|
|
NM_015102.5(NPHP4):c.3565G>A (p.Gly1189Arg)
|
|
|
NM_015102.5(NPHP4):c.3570A>C (p.Glu1190Asp)
|
rs555164
|
|
NM_015102.5(NPHP4):c.3576G>T (p.Arg1192=)
|
|
|
NM_015102.5(NPHP4):c.3580A>T (p.Ile1194Leu)
|
rs1201512603
|
|
NM_015102.5(NPHP4):c.3598A>G (p.Ser1200Gly)
|
|
|
NM_015102.5(NPHP4):c.3615G>C (p.Glu1205Asp)
|
|
|
NM_015102.5(NPHP4):c.3624C>T (p.Asp1208=)
|
|
|
NM_015102.5(NPHP4):c.3631G>A (p.Val1211Ile)
|
|
|
NM_015102.5(NPHP4):c.3636C>G (p.Ile1212Met)
|
|
|
NM_015102.5(NPHP4):c.3644+12G>C
|
|
|
NM_015102.5(NPHP4):c.3644+1G>T
|
rs756111113
|
|
NM_015102.5(NPHP4):c.3644+9A>G
|
rs1212503871
|
|
NM_015102.5(NPHP4):c.3644C>T (p.Ser1215Leu)
|
|
|
NM_015102.5(NPHP4):c.3645-20T>G
|
|
|
NM_015102.5(NPHP4):c.3656T>C (p.Leu1219Pro)
|
rs1641092466
|
|
NM_015102.5(NPHP4):c.3660G>A (p.Ala1220=)
|
|
|
NM_015102.5(NPHP4):c.3670C>G (p.Gln1224Glu)
|
rs1469154562
|
|
NM_015102.5(NPHP4):c.3675G>A (p.Thr1225=)
|
|
|
NM_015102.5(NPHP4):c.3693C>T (p.His1231=)
|
|
|
NM_015102.5(NPHP4):c.3700C>T (p.Gln1234Ter)
|
|
|
NM_015102.5(NPHP4):c.3702G>A (p.Gln1234=)
|
|
|
NM_015102.5(NPHP4):c.3714C>G (p.Val1238=)
|
|
|
NM_015102.5(NPHP4):c.3717C>A (p.Ser1239=)
|
rs757328687
|
|
NM_015102.5(NPHP4):c.3718T>C (p.Cys1240Arg)
|
rs1028037857
|
|
NM_015102.5(NPHP4):c.371A>G (p.Gln124Arg)
|
rs1652098180
|
|
NM_015102.5(NPHP4):c.3737C>G (p.Thr1246Ser)
|
|
|
NM_015102.5(NPHP4):c.3741C>A (p.Arg1247=)
|
rs890957347
|
|
NM_015102.5(NPHP4):c.3742C>T (p.Leu1248=)
|
|
|
NM_015102.5(NPHP4):c.3748C>T (p.Leu1250Phe)
|
|
|
NM_015102.5(NPHP4):c.3749T>G (p.Leu1250Arg)
|
|
|
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.3773_3776del (p.Val1258fs)
|
rs776535691
|
|
NM_015102.5(NPHP4):c.3783G>C (p.Val1261=)
|
|
|
NM_015102.5(NPHP4):c.3788C>G (p.Ala1263Gly)
|
rs1641072103
|
|
NM_015102.5(NPHP4):c.3798_3799del (p.His1267fs)
|
rs2100405990
|
|
NM_015102.5(NPHP4):c.3802C>A (p.Pro1268Thr)
|
rs1641070727
|
|
NM_015102.5(NPHP4):c.3806A>C (p.Gln1269Pro)
|
rs747971299
|
|
NM_015102.5(NPHP4):c.3808G>A (p.Glu1270Lys)
|
|
|
NM_015102.5(NPHP4):c.3810G>A (p.Glu1270=)
|
|
|
NM_015102.5(NPHP4):c.3810G>C (p.Glu1270Asp)
|
rs1344500018
|
|
NM_015102.5(NPHP4):c.3812T>C (p.Leu1271Pro)
|
|
|
NM_015102.5(NPHP4):c.3816+10C>T
|
|
|
NM_015102.5(NPHP4):c.3816+17G>A
|
|
|
NM_015102.5(NPHP4):c.3816+8C>T
|
|
|
NM_015102.5(NPHP4):c.3816G>C (p.Lys1272Asn)
|
|
|
NM_015102.5(NPHP4):c.3817-10G>A
|
|
|
NM_015102.5(NPHP4):c.3817-13C>T
|
|
|
NM_015102.5(NPHP4):c.3817-7C>G
|
rs1488891728
|
|
NM_015102.5(NPHP4):c.3817-9C>T
|
rs2100390843
|
|
NM_015102.5(NPHP4):c.3830G>T (p.Gly1277Val)
|
|
|
NM_015102.5(NPHP4):c.3836T>C (p.Phe1279Ser)
|
rs1385575531
|
|
NM_015102.5(NPHP4):c.3838G>A (p.Val1280Met)
|
rs751907566
|
|
NM_015102.5(NPHP4):c.3838G>C (p.Val1280Leu)
|
rs751907566
|
|
NM_015102.5(NPHP4):c.3848C>T (p.Pro1283Leu)
|
rs765510993
|
|
NM_015102.5(NPHP4):c.3853G>C (p.Gly1285Arg)
|
rs537859714
|
|
NM_015102.5(NPHP4):c.3854G>C (p.Gly1285Ala)
|
rs1192199886
|
|
NM_015102.5(NPHP4):c.3858G>T (p.Val1286=)
|
rs1640983918
|
|
NM_015102.5(NPHP4):c.3867G>A (p.Leu1289=)
|
rs1313637784
|
|
NM_015102.5(NPHP4):c.3877G>T (p.Val1293Leu)
|
rs769488870
|
|
NM_015102.5(NPHP4):c.3886C>T (p.Leu1296Phe)
|
rs2100388131
|
|
NM_015102.5(NPHP4):c.3897C>G (p.Gly1299=)
|
|
|
NM_015102.5(NPHP4):c.3902G>T (p.Arg1301Leu)
|
rs760871475
|
|
NM_015102.5(NPHP4):c.3909C>G (p.Val1303=)
|
rs751495640
|
|
NM_015102.5(NPHP4):c.3913C>A (p.Leu1305Ile)
|
rs2100386839
|
|
NM_015102.5(NPHP4):c.3921G>T (p.Leu1307=)
|
|
|
NM_015102.5(NPHP4):c.3924G>A (p.Val1308=)
|
rs1640973825
|
|
NM_015102.5(NPHP4):c.3930_3939del (p.Asp1311fs)
|
rs1557580413
|
|
NM_015102.5(NPHP4):c.3939C>T (p.His1313=)
|
rs1024184538
|
|
NM_015102.5(NPHP4):c.3971G>C (p.Cys1324Ser)
|
rs1371346310
|
|
NM_015102.5(NPHP4):c.3996+13G>A
|
|
|
NM_015102.5(NPHP4):c.3996+17G>C
|
|
|
NM_015102.5(NPHP4):c.3996+4T>C
|
|
|
NM_015102.5(NPHP4):c.3996+9G>A
|
rs1038768700
|
|
NM_015102.5(NPHP4):c.3996+9G>T
|
|
|
NM_015102.5(NPHP4):c.3997-12C>T
|
|
|
NM_015102.5(NPHP4):c.3997-12del
|
rs1325812736
|
|
NM_015102.5(NPHP4):c.3997-13C>T
|
rs1640921431
|
|
NM_015102.5(NPHP4):c.3997-17G>C
|
rs375105445
|
|
NM_015102.5(NPHP4):c.3997-5C>T
|
rs2100375793
|
|
NM_015102.5(NPHP4):c.3997-7T>A
|
|
|
NM_015102.5(NPHP4):c.3997-8C>T
|
rs1570027768
|
|
NM_015102.5(NPHP4):c.3998C>G (p.Ala1333Gly)
|
rs2100375514
|
|
NM_015102.5(NPHP4):c.401G>A (p.Arg134Gln)
|
|
|
NM_015102.5(NPHP4):c.4024G>A (p.Glu1342Lys)
|
|
|
NM_015102.5(NPHP4):c.4026A>G (p.Glu1342=)
|
|
|
NM_015102.5(NPHP4):c.4028G>A (p.Gly1343Glu)
|
rs1350286134
|
|
NM_015102.5(NPHP4):c.4046G>A (p.Arg1349Lys)
|
rs2100373812
|
|
NM_015102.5(NPHP4):c.4051A>C (p.Thr1351Pro)
|
rs746129070
|
|
NM_015102.5(NPHP4):c.4052C>G (p.Thr1351Ser)
|
rs1347409180
|
|
NM_015102.5(NPHP4):c.4062C>T (p.Asn1354=)
|
|
|
NM_015102.5(NPHP4):c.4065C>T (p.Pro1355=)
|
rs2100373320
|
|
NM_015102.5(NPHP4):c.4065del (p.Tyr1356fs)
|
|
|
NM_015102.5(NPHP4):c.4067A>T (p.Tyr1356Phe)
|
rs747071185
|
|
NM_015102.5(NPHP4):c.4073C>T (p.Ser1358Phe)
|
|
|
NM_015102.5(NPHP4):c.4092G>C (p.Leu1364=)
|
|
|
NM_015102.5(NPHP4):c.4093C>T (p.His1365Tyr)
|
rs2100372334
|
|
NM_015102.5(NPHP4):c.4098C>T (p.Ser1366=)
|
|
|
NM_015102.5(NPHP4):c.4113G>C (p.Leu1371=)
|
rs747099663
|
|
NM_015102.5(NPHP4):c.4117C>T (p.Arg1373Trp)
|
rs1417370808
|
|
NM_015102.5(NPHP4):c.4140+11G>A
|
|
|
NM_015102.5(NPHP4):c.4140+11dup
|
rs779059295
|
|
NM_015102.5(NPHP4):c.4140+16G>A
|
|
|
NM_015102.5(NPHP4):c.4140+9G>A
|
|
|
NM_015102.5(NPHP4):c.4141-12G>A
|
|
|
NM_015102.5(NPHP4):c.4141G>A (p.Val1381Ile)
|
|
|
NM_015102.5(NPHP4):c.4146G>A (p.Gly1382=)
|
|
|
NM_015102.5(NPHP4):c.4157C>A (p.Thr1386Asn)
|
rs1255225068
|
|
NM_015102.5(NPHP4):c.4163C>T (p.Thr1388Ile)
|
rs1640835287
|
|
NM_015102.5(NPHP4):c.4164C>T (p.Thr1388=)
|
|
|
NM_015102.5(NPHP4):c.4172T>A (p.Leu1391Ter)
|
rs2100357134
|
|
NM_015102.5(NPHP4):c.4175A>G (p.Gln1392Arg)
|
|
|
NM_015102.5(NPHP4):c.4195G>A (p.Val1399Met)
|
rs1640830274
|
|
NM_015102.5(NPHP4):c.4196T>C (p.Val1399Ala)
|
|
|
NM_015102.5(NPHP4):c.4198G>A (p.Gly1400Ser)
|
rs1640829676
|
|
NM_015102.5(NPHP4):c.4217T>G (p.Ile1406Ser)
|
rs2100356021
|
|
NM_015102.5(NPHP4):c.4222A>G (p.Ile1408Val)
|
rs1640827027
|
|
NM_015102.5(NPHP4):c.4225A>G (p.Asn1409Asp)
|
|
|
NM_015102.5(NPHP4):c.4232A>G (p.His1411Arg)
|
|
|
NM_015102.5(NPHP4):c.4233T>C (p.His1411=)
|
rs1557575235
|
|
NM_015102.5(NPHP4):c.4245C>T (p.Asn1415=)
|
|
|
NM_015102.5(NPHP4):c.4246G>A (p.Glu1416Lys)
|
|
|
NM_015102.5(NPHP4):c.4249G>A (p.Glu1417Lys)
|
rs746775119
|
|
NM_015102.5(NPHP4):c.4267G>C (p.Val1423Leu)
|
|
|
NM_015102.5(NPHP4):c.4269C>T (p.Val1423=)
|
|
|
NM_015102.5(NPHP4):c.427C>T (p.Pro143Ser)
|
|
|
NM_015102.5(NPHP4):c.431T>A (p.Ile144Asn)
|
|
|
NM_015102.5(NPHP4):c.43C>T (p.Pro15Ser)
|
|
|
NM_015102.5(NPHP4):c.442C>G (p.Gln148Glu)
|
rs372862010
|
|
NM_015102.5(NPHP4):c.446A>G (p.Asp149Gly)
|
|
|
NM_015102.5(NPHP4):c.44C>T (p.Pro15Leu)
|
|
|
NM_015102.5(NPHP4):c.452+1G>A
|
|
|
NM_015102.5(NPHP4):c.452+1G>T
|
rs1195128294
|
|
NM_015102.5(NPHP4):c.452+9C>G
|
rs1036557189
|
|
NM_015102.5(NPHP4):c.453-14G>A
|
|
|
NM_015102.5(NPHP4):c.453-20C>T
|
|
|
NM_015102.5(NPHP4):c.453-3C>G
|
|
|
NM_015102.5(NPHP4):c.464A>G (p.Tyr155Cys)
|
rs1651713266
|
|
NM_015102.5(NPHP4):c.466C>T (p.His156Tyr)
|
|
|
NM_015102.5(NPHP4):c.46C>T (p.Pro16Ser)
|
rs569481065
|
|
NM_015102.5(NPHP4):c.473C>A (p.Thr158Asn)
|
rs1651710968
|
|
NM_015102.5(NPHP4):c.473C>T (p.Thr158Ile)
|
|
|
NM_015102.5(NPHP4):c.474C>A (p.Thr158=)
|
rs2102229351
|
|
NM_015102.5(NPHP4):c.477del (p.Arg160fs)
|
|
|
NM_015102.5(NPHP4):c.493C>T (p.Pro165Ser)
|
rs772978482
|
|
NM_015102.5(NPHP4):c.495G>A (p.Pro165=)
|
|
|
NM_015102.5(NPHP4):c.508C>T (p.Pro170Ser)
|
rs1052194098
|
|
NM_015102.5(NPHP4):c.517+13C>T
|
|
|
NM_015102.5(NPHP4):c.517+17G>C
|
|
|
NM_015102.5(NPHP4):c.517+20T>G
|
|
|
NM_015102.5(NPHP4):c.517C>A (p.Gln173Lys)
|
|
|
NM_015102.5(NPHP4):c.517C>T (p.Gln173Ter)
|
rs997408852
|
|
NM_015102.5(NPHP4):c.518-14G>A
|
|
|
NM_015102.5(NPHP4):c.518-14G>C
|
|
|
NM_015102.5(NPHP4):c.518-15T>C
|
|
|
NM_015102.5(NPHP4):c.518-17del
|
|
|
NM_015102.5(NPHP4):c.548G>C (p.Cys183Ser)
|
|
|
NM_015102.5(NPHP4):c.549C>T (p.Cys183=)
|
|
|
NM_015102.5(NPHP4):c.594G>A (p.Ala198=)
|
rs141538649
|
|
NM_015102.5(NPHP4):c.594G>C (p.Ala198=)
|
rs141538649
|
|
NM_015102.5(NPHP4):c.599A>G (p.His200Arg)
|
rs878854994
|
|
NM_015102.5(NPHP4):c.605T>C (p.Leu202Pro)
|
rs758798813
|
|
NM_015102.5(NPHP4):c.609T>G (p.Pro203=)
|
rs1570653978
|
|
NM_015102.5(NPHP4):c.60_61del (p.Arg20fs)
|
rs770357627
|
|
NM_015102.5(NPHP4):c.61G>A (p.Ala21Thr)
|
|
|
NM_015102.5(NPHP4):c.63G>A (p.Ala21=)
|
|
|
NM_015102.5(NPHP4):c.657A>G (p.Pro219=)
|
rs2102140258
|
|
NM_015102.5(NPHP4):c.665G>C (p.Gly222Ala)
|
rs2102140145
|
|
NM_015102.5(NPHP4):c.671C>G (p.Ser224Cys)
|
rs1650382303
|
|
NM_015102.5(NPHP4):c.673+17T>G
|
|
|
NM_015102.5(NPHP4):c.673+18T>G
|
|
|
NM_015102.5(NPHP4):c.673+7G>A
|
|
|
NM_015102.5(NPHP4):c.674-10A>G
|
rs1031299307
|
|
NM_015102.5(NPHP4):c.674-11C>T
|
rs1365187773
|
|
NM_015102.5(NPHP4):c.674-19C>T
|
|
|
NM_015102.5(NPHP4):c.674-2A>G
|
|
|
NM_015102.5(NPHP4):c.674-3C>T
|
rs1000557946
|
|
NM_015102.5(NPHP4):c.674-4T>G
|
|
|
NM_015102.5(NPHP4):c.674-7G>C
|
rs1557821969
|
|
NM_015102.5(NPHP4):c.679G>A (p.Ala227Thr)
|
rs1196644142
|
|
NM_015102.5(NPHP4):c.686G>A (p.Arg229Gln)
|
rs756137436
|
|
NM_015102.5(NPHP4):c.714G>A (p.Thr238=)
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rs1011986078
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NM_015102.5(NPHP4):c.714G>C (p.Thr238=)
|
rs1011986078
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NM_015102.5(NPHP4):c.71C>G (p.Pro24Arg)
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NM_015102.5(NPHP4):c.725A>G (p.Asp242Gly)
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NM_015102.5(NPHP4):c.742C>G (p.Leu248Val)
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NM_015102.5(NPHP4):c.750dup (p.Ser251fs)
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rs754862360
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NM_015102.5(NPHP4):c.759G>A (p.Glu253=)
|
rs1648400875
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NM_015102.5(NPHP4):c.766G>A (p.Glu256Lys)
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NM_015102.5(NPHP4):c.771A>C (p.Glu257Asp)
|
rs1648398783
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NM_015102.5(NPHP4):c.786C>G (p.Leu262=)
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NM_015102.5(NPHP4):c.810+11A>T
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NM_015102.5(NPHP4):c.810+15G>T
|
rs368702718
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NM_015102.5(NPHP4):c.810+16C>G
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NM_015102.5(NPHP4):c.810+16C>T
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NM_015102.5(NPHP4):c.810+8del
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NM_015102.5(NPHP4):c.813A>C (p.Gly271=)
|
rs2101940859
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NM_015102.5(NPHP4):c.822A>C (p.Pro274=)
|
rs1466097723
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NM_015102.5(NPHP4):c.829G>A (p.Gly277Ser)
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NM_015102.5(NPHP4):c.829G>C (p.Gly277Arg)
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NM_015102.5(NPHP4):c.832G>A (p.Gly278Ser)
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NM_015102.5(NPHP4):c.833G>T (p.Gly278Val)
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NM_015102.5(NPHP4):c.834_841del (p.Ala279fs)
|
rs781558715
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NM_015102.5(NPHP4):c.835G>T (p.Ala279Ser)
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|
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NM_015102.5(NPHP4):c.857G>A (p.Arg286His)
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|
|
NM_015102.5(NPHP4):c.862C>G (p.Arg288Gly)
|
rs372256352
|
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NM_015102.5(NPHP4):c.862C>T (p.Arg288Cys)
|
rs372256352
|
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NM_015102.5(NPHP4):c.871G>C (p.Val291Leu)
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|
|
NM_015102.5(NPHP4):c.871_889delinsC (p.Val291_Phe297delinsLeu)
|
rs1553186265
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NM_015102.5(NPHP4):c.873_890del (p.His292_Phe297del)
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NM_015102.5(NPHP4):c.87G>A (p.Thr29=)
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NM_015102.5(NPHP4):c.890T>A (p.Phe297Tyr)
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|
NM_015102.5(NPHP4):c.897G>C (p.Gln299His)
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NM_015102.5(NPHP4):c.916C>T (p.Leu306=)
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|
|
NM_015102.5(NPHP4):c.921G>T (p.Val307=)
|
rs2101938919
|
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NM_015102.5(NPHP4):c.922C>T (p.Pro308Ser)
|
rs1570585632
|
|
NM_015102.5(NPHP4):c.926A>G (p.Glu309Gly)
|
|
|
NM_015102.5(NPHP4):c.92T>C (p.Phe31Ser)
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|
|
NM_015102.5(NPHP4):c.932A>G (p.Asp311Gly)
|
rs371217093
|
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NM_015102.5(NPHP4):c.962G>T (p.Ser321Ile)
|
rs1046803552
|
|
NM_015102.5(NPHP4):c.964_965inv (p.Arg322Leu)
|
|
|
NM_015102.5(NPHP4):c.969A>G (p.Lys323=)
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|
NM_015102.5(NPHP4):c.973G>C (p.Val325Leu)
|
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|
NM_015102.5(NPHP4):c.975C>G (p.Val325=)
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|
NM_015102.5(NPHP4):c.977C>T (p.Ser326Phe)
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|
NM_015102.5(NPHP4):c.985A>C (p.Lys329Gln)
|
|
|
NM_015102.5(NPHP4):c.992+11T>C
|
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|
NM_015102.5(NPHP4):c.992+13G>A
|
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|
NM_015102.5(NPHP4):c.992+14G>C
|
|
|
NM_015102.5(NPHP4):c.992+19C>T
|
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|
NM_015102.5(NPHP4):c.992+1G>T
|
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|
NM_015102.5(NPHP4):c.992+20C>G
|
|
|
NM_015102.5(NPHP4):c.992+4T>G
|
rs1647207716
|
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NM_015102.5(NPHP4):c.992+8C>T
|
|
|
NM_015102.5(NPHP4):c.992G>C (p.Ser331Thr)
|
|
|
NM_015102.5(NPHP4):c.993-15G>C
|
rs2101925931
|
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NM_015102.5(NPHP4):c.993-3C>G
|
|
|
NM_015102.5(NPHP4):c.993-7G>A
|
rs2101925873
|
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NM_015102.5(NPHP4):c.99T>C (p.Cys33=)
|
|
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