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.2542C>T (p.Arg848Trp)
|
rs17472401
|
0.01606
|
NM_015102.5(NPHP4):c.3479C>T (p.Pro1160Leu)
|
rs113445782
|
0.01143
|
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.3315+32G>A
|
rs115555125
|
0.00616
|
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.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.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.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.271T>C (p.Phe91Leu)
|
rs201065230
|
0.00109
|
NM_015102.5(NPHP4):c.2653A>C (p.Ser885Arg)
|
rs112206586
|
0.00102
|
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.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.1966G>A (p.Asp656Asn)
|
rs191602135
|
0.00050
|
NM_015102.5(NPHP4):c.1935A>G (p.Leu645=)
|
rs200104274
|
0.00048
|
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.3612G>A (p.Pro1204=)
|
rs374003717
|
0.00035
|
NM_015102.5(NPHP4):c.1431G>A (p.Thr477=)
|
rs200183657
|
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.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.909C>T (p.Val303=)
|
rs201488441
|
0.00030
|
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.1089G>T (p.Val363=)
|
rs201464887
|
0.00026
|
NM_015102.5(NPHP4):c.2142T>A (p.Ala714=)
|
rs199912631
|
0.00026
|
NM_015102.5(NPHP4):c.1632C>T (p.Ala544=)
|
rs201903713
|
0.00025
|
NM_015102.5(NPHP4):c.2109C>T (p.Leu703=)
|
rs373182062
|
0.00025
|
NM_015102.5(NPHP4):c.3175G>A (p.Ala1059Thr)
|
rs202004152
|
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.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.2436C>T (p.Gly812=)
|
rs376696627
|
0.00019
|
NM_015102.5(NPHP4):c.39T>G (p.Leu13=)
|
rs368335406
|
0.00019
|
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.4107G>A (p.Pro1369=)
|
rs200569946
|
0.00017
|
NM_015102.5(NPHP4):c.2781C>T (p.Ala927=)
|
rs199875603
|
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.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.3174C>T (p.Thr1058=)
|
rs374354239
|
0.00013
|
NM_015102.5(NPHP4):c.2486-6A>G
|
rs191289431
|
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.280-4G>A
|
rs190495420
|
0.00011
|
NM_015102.5(NPHP4):c.3044+11A>C
|
rs778862383
|
0.00011
|
NM_015102.5(NPHP4):c.810+11A>G
|
rs567382723
|
0.00011
|
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.3850C>T (p.Arg1284Cys)
|
rs779755743
|
0.00010
|
NM_015102.5(NPHP4):c.870C>T (p.Gly290=)
|
rs749844096
|
0.00010
|
NM_015102.5(NPHP4):c.1668C>T (p.Thr556=)
|
rs753733095
|
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.3012G>A (p.Thr1004=)
|
rs185162256
|
0.00009
|
NM_015102.5(NPHP4):c.3045-17G>C
|
rs758528343
|
0.00009
|
NM_015102.5(NPHP4):c.3267C>T (p.Asp1089=)
|
rs187149431
|
0.00009
|
NM_015102.5(NPHP4):c.1923C>T (p.Asn641=)
|
rs372430727
|
0.00008
|
NM_015102.5(NPHP4):c.2807C>T (p.Thr936Met)
|
rs201074950
|
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.2349G>A (p.Glu783=)
|
rs778596372
|
0.00007
|
NM_015102.5(NPHP4):c.280-6C>G
|
rs532995236
|
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.3645-10C>A
|
rs745843093
|
0.00007
|
NM_015102.5(NPHP4):c.675C>T (p.Gly225=)
|
rs200203766
|
0.00007
|
NM_015102.5(NPHP4):c.-8C>T
|
rs375807896
|
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.2930C>T (p.Thr977Met)
|
rs569364202
|
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.619C>T (p.Leu207=)
|
rs765514910
|
0.00006
|
NM_015102.5(NPHP4):c.674-18G>A
|
rs746544225
|
0.00006
|
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.1763+14C>G
|
rs752748198
|
0.00005
|
NM_015102.5(NPHP4):c.1851C>T (p.Ala617=)
|
rs201192584
|
0.00005
|
NM_015102.5(NPHP4):c.2292C>T (p.Ala764=)
|
rs550547107
|
0.00005
|
NM_015102.5(NPHP4):c.2532G>A (p.Pro844=)
|
rs376157441
|
0.00005
|
NM_015102.5(NPHP4):c.33C>T (p.Asn11=)
|
rs746542667
|
0.00005
|
NM_015102.5(NPHP4):c.3997-15C>T
|
rs754743775
|
0.00005
|
NM_015102.5(NPHP4):c.1005A>G (p.Gln335=)
|
rs398124287
|
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.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.1863C>T (p.Ser621=)
|
rs185572258
|
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.2818-14C>T
|
rs1403445608
|
0.00004
|
NM_015102.5(NPHP4):c.285G>A (p.Leu95=)
|
rs767329719
|
0.00004
|
NM_015102.5(NPHP4):c.2886G>A (p.Thr962=)
|
rs368320071
|
0.00004
|
NM_015102.5(NPHP4):c.2961C>T (p.Val987=)
|
rs113802525
|
0.00004
|
NM_015102.5(NPHP4):c.3291C>T (p.Ser1097=)
|
rs543488908
|
0.00004
|
NM_015102.5(NPHP4):c.3817-11C>T
|
rs774350462
|
0.00004
|
NM_015102.5(NPHP4):c.3984G>A (p.Pro1328=)
|
rs763002637
|
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.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.136-13C>T
|
rs749797110
|
0.00003
|
NM_015102.5(NPHP4):c.1408C>T (p.Arg470Trp)
|
rs367686843
|
0.00003
|
NM_015102.5(NPHP4):c.1533G>A (p.Pro511=)
|
rs775251652
|
0.00003
|
NM_015102.5(NPHP4):c.1815C>T (p.Gly605=)
|
rs748315715
|
0.00003
|
NM_015102.5(NPHP4):c.2238C>T (p.Thr746=)
|
rs756449736
|
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.2646C>T (p.Asp882=)
|
rs774354969
|
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.3081G>A (p.Lys1027=)
|
rs745993624
|
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.3525C>T (p.Ser1175=)
|
rs779230173
|
0.00003
|
NM_015102.5(NPHP4):c.3561C>T (p.Gly1187=)
|
rs1041168838
|
0.00003
|
NM_015102.5(NPHP4):c.4080G>A (p.Arg1360=)
|
rs755937381
|
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.135+7A>G
|
rs755240438
|
0.00002
|
NM_015102.5(NPHP4):c.1442-8C>T
|
rs766872386
|
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.198C>G (p.Thr66=)
|
rs1477004787
|
0.00002
|
NM_015102.5(NPHP4):c.2091C>T (p.Gly697=)
|
rs531162424
|
0.00002
|
NM_015102.5(NPHP4):c.2268C>T (p.Ser756=)
|
rs768290484
|
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.2612-5C>T
|
rs760099622
|
0.00002
|
NM_015102.5(NPHP4):c.2871C>T (p.Ala957=)
|
rs748561999
|
0.00002
|
NM_015102.5(NPHP4):c.3051C>T (p.Ile1017=)
|
rs753246840
|
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.3723C>T (p.Val1241=)
|
rs375485412
|
0.00002
|
NM_015102.5(NPHP4):c.421G>A (p.Asp141Asn)
|
rs763993912
|
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.6C>T (p.Asn2=)
|
rs371472576
|
0.00002
|
NM_015102.5(NPHP4):c.992+10C>T
|
rs771032417
|
0.00002
|
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.1098C>T (p.Ser366=)
|
rs1449413890
|
0.00001
|
NM_015102.5(NPHP4):c.1128G>A (p.Ser376=)
|
rs757711149
|
0.00001
|
NM_015102.5(NPHP4):c.1170C>T (p.Arg390=)
|
rs548306539
|
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.136-5C>T
|
rs1318593937
|
0.00001
|
NM_015102.5(NPHP4):c.1377G>A (p.Thr459=)
|
rs769077319
|
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.1602G>A (p.Pro534=)
|
rs1335554286
|
0.00001
|
NM_015102.5(NPHP4):c.1611+15C>T
|
rs1450540379
|
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.1821C>T (p.Pro607=)
|
rs749297150
|
0.00001
|
NM_015102.5(NPHP4):c.2037G>A (p.Thr679=)
|
rs756780739
|
0.00001
|
NM_015102.5(NPHP4):c.2073C>T (p.Ala691=)
|
rs773208084
|
0.00001
|
NM_015102.5(NPHP4):c.2095C>T (p.Leu699=)
|
rs745467662
|
0.00001
|
NM_015102.5(NPHP4):c.2143+12T>C
|
rs369095959
|
0.00001
|
NM_015102.5(NPHP4):c.222G>A (p.Thr74=)
|
rs768099247
|
0.00001
|
NM_015102.5(NPHP4):c.2283A>C (p.Gly761=)
|
rs1644089451
|
0.00001
|
NM_015102.5(NPHP4):c.2328G>A (p.Pro776=)
|
rs770986448
|
0.00001
|
NM_015102.5(NPHP4):c.2433C>T (p.Ile811=)
|
rs779482394
|
0.00001
|
NM_015102.5(NPHP4):c.2481C>T (p.Asn827=)
|
rs761721701
|
0.00001
|
NM_015102.5(NPHP4):c.2487T>C (p.Gly829=)
|
rs759022050
|
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.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.2703C>T (p.Pro901=)
|
rs1200133332
|
0.00001
|
NM_015102.5(NPHP4):c.2718C>T (p.Arg906=)
|
rs576473519
|
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.2844C>T (p.His948=)
|
rs1642441569
|
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.2946C>T (p.His982=)
|
rs766172633
|
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.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.309C>T (p.His103=)
|
rs762489156
|
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.3270C>T (p.Ala1090=)
|
rs767473811
|
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.339C>T (p.Val113=)
|
rs771576802
|
0.00001
|
NM_015102.5(NPHP4):c.3438G>A (p.Lys1146=)
|
rs760841174
|
0.00001
|
NM_015102.5(NPHP4):c.3454C>T (p.Pro1152Ser)
|
rs560329867
|
0.00001
|
NM_015102.5(NPHP4):c.3473-16A>G
|
rs376664242
|
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.3597C>T (p.Ala1199=)
|
rs933460121
|
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.3696C>T (p.Ser1232=)
|
rs1641087208
|
0.00001
|
NM_015102.5(NPHP4):c.3804C>T (p.Pro1268=)
|
rs1279952528
|
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.3927C>T (p.Asp1309=)
|
rs377183096
|
0.00001
|
NM_015102.5(NPHP4):c.3987C>T (p.Leu1329=)
|
rs1352217291
|
0.00001
|
NM_015102.5(NPHP4):c.4023C>T (p.Gly1341=)
|
rs774866535
|
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.4143C>T (p.Val1381=)
|
rs766613810
|
0.00001
|
NM_015102.5(NPHP4):c.4182G>A (p.Ala1394=)
|
rs754549864
|
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.4260C>T (p.Cys1420=)
|
rs376464726
|
0.00001
|
NM_015102.5(NPHP4):c.453-17T>C
|
rs201880900
|
0.00001
|
NM_015102.5(NPHP4):c.492C>T (p.His164=)
|
rs863224422
|
0.00001
|
NM_015102.5(NPHP4):c.510C>T (p.Pro170=)
|
rs545943420
|
0.00001
|
NM_015102.5(NPHP4):c.518-6C>T
|
rs763077205
|
0.00001
|
NM_015102.5(NPHP4):c.579G>A (p.Pro193=)
|
rs544402763
|
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.789C>T (p.His263=)
|
rs760440073
|
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.879T>C (p.Asn293=)
|
rs892175467
|
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.996C>T (p.Ser332=)
|
rs773569914
|
0.00001
|
NM_015102.5(NPHP4):c.1008T>C (p.Ala336=)
|
|
|
NM_015102.5(NPHP4):c.1032C>T (p.Arg344=)
|
|
|
NM_015102.5(NPHP4):c.1068C>T (p.Val356=)
|
rs1570580019
|
|
NM_015102.5(NPHP4):c.1086C>T (p.Tyr362=)
|
rs762252256
|
|
NM_015102.5(NPHP4):c.1104A>G (p.Ala368=)
|
|
|
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+7A>G
|
|
|
NM_015102.5(NPHP4):c.1120-5T>C
|
|
|
NM_015102.5(NPHP4):c.1128G>C (p.Ser376=)
|
rs757711149
|
|
NM_015102.5(NPHP4):c.1143C>T (p.Ser381=)
|
|
|
NM_015102.5(NPHP4):c.1152A>T (p.Ala384=)
|
|
|
NM_015102.5(NPHP4):c.1185C>T (p.Asn395=)
|
|
|
NM_015102.5(NPHP4):c.1188C>T (p.Pro396=)
|
|
|
NM_015102.5(NPHP4):c.1206T>C (p.Ser402=)
|
|
|
NM_015102.5(NPHP4):c.123G>A (p.Pro41=)
|
|
|
NM_015102.5(NPHP4):c.1254G>A (p.Ser418=)
|
|
|
NM_015102.5(NPHP4):c.1257C>T (p.His419=)
|
rs768393994
|
|
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.1344G>A (p.Ser448=)
|
rs765179963
|
|
NM_015102.5(NPHP4):c.135+20G>A
|
|
|
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.1380G>A (p.Glu460=)
|
rs367632543
|
|
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.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.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.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+9A>C
|
|
|
NM_015102.5(NPHP4):c.1504-14C>G
|
rs1453262255
|
|
NM_015102.5(NPHP4):c.1504-17G>T
|
|
|
NM_015102.5(NPHP4):c.1518G>A (p.Gln506=)
|
|
|
NM_015102.5(NPHP4):c.1536G>A (p.Arg512=)
|
rs368436034
|
|
NM_015102.5(NPHP4):c.1548G>A (p.Gln516=)
|
|
|
NM_015102.5(NPHP4):c.1575G>A (p.Gln525=)
|
|
|
NM_015102.5(NPHP4):c.1596C>T (p.Ala532=)
|
|
|
NM_015102.5(NPHP4):c.1611+12C>T
|
rs2101170399
|
|
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.1635T>C (p.Gly545=)
|
|
|
NM_015102.5(NPHP4):c.1674G>A (p.Leu558=)
|
|
|
NM_015102.5(NPHP4):c.168C>T (p.Cys56=)
|
|
|
NM_015102.5(NPHP4):c.1701G>A (p.Gln567=)
|
|
|
NM_015102.5(NPHP4):c.1716G>C (p.Pro572=)
|
|
|
NM_015102.5(NPHP4):c.1722G>A (p.Thr574=)
|
rs1191733336
|
|
NM_015102.5(NPHP4):c.1734C>T (p.Ala578=)
|
rs1259213564
|
|
NM_015102.5(NPHP4):c.1737T>C (p.Pro579=)
|
rs1644880136
|
|
NM_015102.5(NPHP4):c.174G>A (p.Leu58=)
|
|
|
NM_015102.5(NPHP4):c.1752C>T (p.Thr584=)
|
rs1443618180
|
|
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.1821C>G (p.Pro607=)
|
rs749297150
|
|
NM_015102.5(NPHP4):c.1836C>T (p.Ala612=)
|
|
|
NM_015102.5(NPHP4):c.1881G>A (p.Thr627=)
|
|
|
NM_015102.5(NPHP4):c.1899A>G (p.Glu633=)
|
rs1373373477
|
|
NM_015102.5(NPHP4):c.192T>C (p.Asp64=)
|
|
|
NM_015102.5(NPHP4):c.1955+11G>C
|
|
|
NM_015102.5(NPHP4):c.1955+6del
|
|
|
NM_015102.5(NPHP4):c.1956-3C>T
|
|
|
NM_015102.5(NPHP4):c.1959G>A (p.Val653=)
|
|
|
NM_015102.5(NPHP4):c.2021G>T (p.Arg674Leu)
|
rs375416303
|
|
NM_015102.5(NPHP4):c.2029C>T (p.Pro677Ser)
|
rs547495754
|
|
NM_015102.5(NPHP4):c.2034A>G (p.Ala678=)
|
|
|
NM_015102.5(NPHP4):c.2040G>A (p.Thr680=)
|
|
|
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.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.2144-5G>A
|
|
|
NM_015102.5(NPHP4):c.2184G>A (p.Gly728=)
|
rs1475748304
|
|
NM_015102.5(NPHP4):c.2196A>G (p.Pro732=)
|
rs994648684
|
|
NM_015102.5(NPHP4):c.2217C>T (p.Ala739=)
|
|
|
NM_015102.5(NPHP4):c.2241G>A (p.Leu747=)
|
|
|
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.2253C>T (p.Val751=)
|
|
|
NM_015102.5(NPHP4):c.2272C>T (p.Leu758=)
|
|
|
NM_015102.5(NPHP4):c.2277C>T (p.Leu759=)
|
|
|
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.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.2316C>T (p.Arg772=)
|
|
|
NM_015102.5(NPHP4):c.2327C>G (p.Pro776Arg)
|
rs201527181
|
|
NM_015102.5(NPHP4):c.2352T>G (p.Leu784=)
|
rs1570250696
|
|
NM_015102.5(NPHP4):c.243G>A (p.Pro81=)
|
|
|
NM_015102.5(NPHP4):c.2442C>T (p.His814=)
|
|
|
NM_015102.5(NPHP4):c.2451G>T (p.Val817=)
|
|
|
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.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.2574C>T (p.Phe858=)
|
rs756412252
|
|
NM_015102.5(NPHP4):c.2592C>T (p.Leu864=)
|
rs2100734173
|
|
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.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.2673A>G (p.Leu891=)
|
rs974196549
|
|
NM_015102.5(NPHP4):c.2679C>T (p.Thr893=)
|
|
|
NM_015102.5(NPHP4):c.2694C>A (p.Gly898=)
|
rs2100676429
|
|
NM_015102.5(NPHP4):c.2709C>T (p.Asp903=)
|
|
|
NM_015102.5(NPHP4):c.2736C>G (p.Arg912=)
|
|
|
NM_015102.5(NPHP4):c.2754G>A (p.Arg918=)
|
|
|
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.280-20C>T
|
|
|
NM_015102.5(NPHP4):c.2817+16G>A
|
|
|
NM_015102.5(NPHP4):c.2818-15T>C
|
|
|
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.2856A>G (p.Leu952=)
|
|
|
NM_015102.5(NPHP4):c.2877G>C (p.Arg959=)
|
rs753858949
|
|
NM_015102.5(NPHP4):c.2934G>A (p.Glu978=)
|
|
|
NM_015102.5(NPHP4):c.294C>T (p.His98=)
|
rs1652112362
|
|
NM_015102.5(NPHP4):c.2982G>T (p.Val994=)
|
|
|
NM_015102.5(NPHP4):c.3018T>C (p.Thr1006=)
|
|
|
NM_015102.5(NPHP4):c.3027C>A (p.Ile1009=)
|
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+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.3096G>A (p.Leu1032=)
|
|
|
NM_015102.5(NPHP4):c.3114G>A (p.Glu1038=)
|
rs2100621671
|
|
NM_015102.5(NPHP4):c.3117C>T (p.Asp1039=)
|
|
|
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.3174C>A (p.Thr1058=)
|
rs374354239
|
|
NM_015102.5(NPHP4):c.3180C>T (p.His1060=)
|
|
|
NM_015102.5(NPHP4):c.3213G>A (p.Gly1071=)
|
|
|
NM_015102.5(NPHP4):c.3219G>A (p.Leu1073=)
|
rs1008653830
|
|
NM_015102.5(NPHP4):c.3231+19C>T
|
rs773830689
|
|
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.3261C>T (p.Gly1087=)
|
|
|
NM_015102.5(NPHP4):c.327G>A (p.Val109=)
|
|
|
NM_015102.5(NPHP4):c.3294A>C (p.Ala1098=)
|
|
|
NM_015102.5(NPHP4):c.3294A>G (p.Ala1098=)
|
rs1570122961
|
|
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.3381C>G (p.Pro1127=)
|
|
|
NM_015102.5(NPHP4):c.3384C>T (p.His1128=)
|
|
|
NM_015102.5(NPHP4):c.3390G>A (p.Val1130=)
|
rs2100468642
|
|
NM_015102.5(NPHP4):c.3405C>T (p.Arg1135=)
|
|
|
NM_015102.5(NPHP4):c.3423C>G (p.Leu1141=)
|
|
|
NM_015102.5(NPHP4):c.3423C>T (p.Leu1141=)
|
|
|
NM_015102.5(NPHP4):c.3441C>T (p.Ala1147=)
|
|
|
NM_015102.5(NPHP4):c.3450G>C (p.Leu1150=)
|
|
|
NM_015102.5(NPHP4):c.3453G>A (p.Pro1151=)
|
|
|
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.3472+6T>C
|
rs886038610
|
|
NM_015102.5(NPHP4):c.3473-21_3473-20del
|
|
|
NM_015102.5(NPHP4):c.3473-9C>G
|
rs1245769383
|
|
NM_015102.5(NPHP4):c.3473-9C>T
|
|
|
NM_015102.5(NPHP4):c.3480G>A (p.Pro1160=)
|
rs373955397
|
|
NM_015102.5(NPHP4):c.3492T>C (p.Leu1164=)
|
rs750516114
|
|
NM_015102.5(NPHP4):c.3507A>G (p.Pro1169=)
|
rs1021024243
|
|
NM_015102.5(NPHP4):c.3519C>T (p.Arg1173=)
|
|
|
NM_015102.5(NPHP4):c.3528C>T (p.Asp1176=)
|
rs1570058481
|
|
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.3576G>T (p.Arg1192=)
|
|
|
NM_015102.5(NPHP4):c.3624C>T (p.Asp1208=)
|
|
|
NM_015102.5(NPHP4):c.3644+12G>C
|
|
|
NM_015102.5(NPHP4):c.3644+9A>G
|
rs1212503871
|
|
NM_015102.5(NPHP4):c.3645-20T>G
|
|
|
NM_015102.5(NPHP4):c.3660G>A (p.Ala1220=)
|
|
|
NM_015102.5(NPHP4):c.3675G>A (p.Thr1225=)
|
|
|
NM_015102.5(NPHP4):c.3693C>T (p.His1231=)
|
|
|
NM_015102.5(NPHP4):c.3714C>G (p.Val1238=)
|
|
|
NM_015102.5(NPHP4):c.3717C>A (p.Ser1239=)
|
rs757328687
|
|
NM_015102.5(NPHP4):c.3741C>A (p.Arg1247=)
|
rs890957347
|
|
NM_015102.5(NPHP4):c.3742C>T (p.Leu1248=)
|
|
|
NM_015102.5(NPHP4):c.3747C>A (p.Ser1249=)
|
|
|
NM_015102.5(NPHP4):c.3747C>T (p.Ser1249=)
|
|
|
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.3783G>C (p.Val1261=)
|
|
|
NM_015102.5(NPHP4):c.3789T>A (p.Ala1263=)
|
|
|
NM_015102.5(NPHP4):c.3810G>A (p.Glu1270=)
|
|
|
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.3817-10G>A
|
|
|
NM_015102.5(NPHP4):c.3817-13C>T
|
|
|
NM_015102.5(NPHP4):c.3817-6T>C
|
|
|
NM_015102.5(NPHP4):c.3817-7C>G
|
rs1488891728
|
|
NM_015102.5(NPHP4):c.3817-9C>T
|
rs2100390843
|
|
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.3897C>G (p.Gly1299=)
|
|
|
NM_015102.5(NPHP4):c.3909C>G (p.Val1303=)
|
rs751495640
|
|
NM_015102.5(NPHP4):c.3921G>T (p.Leu1307=)
|
|
|
NM_015102.5(NPHP4):c.3924G>A (p.Val1308=)
|
rs1640973825
|
|
NM_015102.5(NPHP4):c.3939C>T (p.His1313=)
|
rs1024184538
|
|
NM_015102.5(NPHP4):c.3996+13G>A
|
|
|
NM_015102.5(NPHP4):c.3996+17G>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.3997-13C>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.4026A>G (p.Glu1342=)
|
|
|
NM_015102.5(NPHP4):c.4062C>T (p.Asn1354=)
|
|
|
NM_015102.5(NPHP4):c.4065C>T (p.Pro1355=)
|
rs2100373320
|
|
NM_015102.5(NPHP4):c.4088A>G (p.His1363Arg)
|
|
|
NM_015102.5(NPHP4):c.4092G>C (p.Leu1364=)
|
|
|
NM_015102.5(NPHP4):c.4098C>T (p.Ser1366=)
|
|
|
NM_015102.5(NPHP4):c.4113G>C (p.Leu1371=)
|
rs747099663
|
|
NM_015102.5(NPHP4):c.4140+11G>A
|
|
|
NM_015102.5(NPHP4):c.4140+16G>A
|
|
|
NM_015102.5(NPHP4):c.4141-12G>A
|
|
|
NM_015102.5(NPHP4):c.4146G>A (p.Gly1382=)
|
|
|
NM_015102.5(NPHP4):c.4164C>T (p.Thr1388=)
|
|
|
NM_015102.5(NPHP4):c.4175A>G (p.Gln1392Arg)
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NM_015102.5(NPHP4):c.4233T>C (p.His1411=)
|
rs1557575235
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NM_015102.5(NPHP4):c.4245C>T (p.Asn1415=)
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NM_015102.5(NPHP4):c.4251G>A (p.Glu1417=)
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NM_015102.5(NPHP4):c.4269C>T (p.Val1423=)
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NM_015102.5(NPHP4):c.452+9C>G
|
rs1036557189
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NM_015102.5(NPHP4):c.453-14G>A
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NM_015102.5(NPHP4):c.453-20C>T
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NM_015102.5(NPHP4):c.474C>A (p.Thr158=)
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rs2102229351
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NM_015102.5(NPHP4):c.495G>A (p.Pro165=)
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NM_015102.5(NPHP4):c.517+13C>T
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NM_015102.5(NPHP4):c.517+17G>C
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NM_015102.5(NPHP4):c.517+20T>G
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NM_015102.5(NPHP4):c.518-14G>A
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NM_015102.5(NPHP4):c.518-14G>C
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NM_015102.5(NPHP4):c.518-15T>C
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NM_015102.5(NPHP4):c.518-17del
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NM_015102.5(NPHP4):c.549C>T (p.Cys183=)
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NM_015102.5(NPHP4):c.594G>A (p.Ala198=)
|
rs141538649
|
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NM_015102.5(NPHP4):c.594G>C (p.Ala198=)
|
rs141538649
|
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NM_015102.5(NPHP4):c.609T>G (p.Pro203=)
|
rs1570653978
|
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NM_015102.5(NPHP4):c.63G>A (p.Ala21=)
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NM_015102.5(NPHP4):c.657A>G (p.Pro219=)
|
rs2102140258
|
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NM_015102.5(NPHP4):c.673+17T>G
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NM_015102.5(NPHP4):c.673+7G>A
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NM_015102.5(NPHP4):c.674-10A>G
|
rs1031299307
|
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NM_015102.5(NPHP4):c.674-11C>T
|
rs1365187773
|
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NM_015102.5(NPHP4):c.674-19C>T
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NM_015102.5(NPHP4):c.674-3C>T
|
rs1000557946
|
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NM_015102.5(NPHP4):c.674-4T>G
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NM_015102.5(NPHP4):c.674-7G>C
|
rs1557821969
|
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NM_015102.5(NPHP4):c.714G>A (p.Thr238=)
|
rs1011986078
|
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NM_015102.5(NPHP4):c.714G>C (p.Thr238=)
|
rs1011986078
|
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NM_015102.5(NPHP4):c.759G>A (p.Glu253=)
|
rs1648400875
|
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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
|
|
NM_015102.5(NPHP4):c.87G>A (p.Thr29=)
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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
|
|
NM_015102.5(NPHP4):c.969A>G (p.Lys323=)
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|
NM_015102.5(NPHP4):c.975C>G (p.Val325=)
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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+20C>G
|
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|
NM_015102.5(NPHP4):c.992+8C>T
|
|
|
NM_015102.5(NPHP4):c.993-15G>C
|
rs2101925931
|
|
NM_015102.5(NPHP4):c.993-7G>A
|
rs2101925873
|
|
NM_015102.5(NPHP4):c.99T>C (p.Cys33=)
|
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