ClinVar Miner

List of variants in gene NPHP4 reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1367
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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=) rs1011986078
NM_015102.5(NPHP4):c.714G>C (p.Thr238=) rs1011986078
NM_015102.5(NPHP4):c.71C>G (p.Pro24Arg)
NM_015102.5(NPHP4):c.725A>G (p.Asp242Gly)
NM_015102.5(NPHP4):c.742C>G (p.Leu248Val)
NM_015102.5(NPHP4):c.750dup (p.Ser251fs) rs754862360
NM_015102.5(NPHP4):c.759G>A (p.Glu253=) rs1648400875
NM_015102.5(NPHP4):c.766G>A (p.Glu256Lys)
NM_015102.5(NPHP4):c.771A>C (p.Glu257Asp) rs1648398783
NM_015102.5(NPHP4):c.786C>G (p.Leu262=)
NM_015102.5(NPHP4):c.810+11A>T
NM_015102.5(NPHP4):c.810+15G>T rs368702718
NM_015102.5(NPHP4):c.810+16C>G
NM_015102.5(NPHP4):c.810+16C>T
NM_015102.5(NPHP4):c.810+8del
NM_015102.5(NPHP4):c.813A>C (p.Gly271=) rs2101940859
NM_015102.5(NPHP4):c.822A>C (p.Pro274=) rs1466097723
NM_015102.5(NPHP4):c.829G>A (p.Gly277Ser)
NM_015102.5(NPHP4):c.829G>C (p.Gly277Arg)
NM_015102.5(NPHP4):c.832G>A (p.Gly278Ser)
NM_015102.5(NPHP4):c.833G>T (p.Gly278Val)
NM_015102.5(NPHP4):c.834_841del (p.Ala279fs) rs781558715
NM_015102.5(NPHP4):c.835G>T (p.Ala279Ser)
NM_015102.5(NPHP4):c.857G>A (p.Arg286His)
NM_015102.5(NPHP4):c.862C>G (p.Arg288Gly) rs372256352
NM_015102.5(NPHP4):c.862C>T (p.Arg288Cys) rs372256352
NM_015102.5(NPHP4):c.871G>C (p.Val291Leu)
NM_015102.5(NPHP4):c.871_889delinsC (p.Val291_Phe297delinsLeu) rs1553186265
NM_015102.5(NPHP4):c.873_890del (p.His292_Phe297del)
NM_015102.5(NPHP4):c.87G>A (p.Thr29=)
NM_015102.5(NPHP4):c.890T>A (p.Phe297Tyr)
NM_015102.5(NPHP4):c.897G>C (p.Gln299His)
NM_015102.5(NPHP4):c.916C>T (p.Leu306=)
NM_015102.5(NPHP4):c.921G>T (p.Val307=) rs2101938919
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)
NM_015102.5(NPHP4):c.932A>G (p.Asp311Gly) rs371217093
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=)
NM_015102.5(NPHP4):c.973G>C (p.Val325Leu)
NM_015102.5(NPHP4):c.975C>G (p.Val325=)
NM_015102.5(NPHP4):c.977C>T (p.Ser326Phe)
NM_015102.5(NPHP4):c.985A>C (p.Lys329Gln)
NM_015102.5(NPHP4):c.992+11T>C
NM_015102.5(NPHP4):c.992+13G>A
NM_015102.5(NPHP4):c.992+14G>C
NM_015102.5(NPHP4):c.992+19C>T
NM_015102.5(NPHP4):c.992+1G>T
NM_015102.5(NPHP4):c.992+20C>G
NM_015102.5(NPHP4):c.992+4T>G rs1647207716
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
NM_015102.5(NPHP4):c.993-3C>G
NM_015102.5(NPHP4):c.993-7G>A rs2101925873
NM_015102.5(NPHP4):c.99T>C (p.Cys33=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.