ClinVar Miner

List of variants in gene NPHP4 reported as uncertain significance for autosomal recessive disease

Included ClinVar conditions (1167):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 760
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015102.5(NPHP4):c.2219G>A (p.Arg740His) rs34248917 0.02256
NM_015102.5(NPHP4):c.1852G>A (p.Glu618Lys) rs571655 0.01009
NM_015102.5(NPHP4):c.3329C>T (p.Ala1110Val) rs139767853 0.00374
NM_015102.5(NPHP4):c.2882G>A (p.Arg961His) rs183885357 0.00200
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.2820G>A (p.Ala940=) rs35575973 0.00078
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.4141-11C>T rs139203183 0.00066
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_015102.4(NPHP4):c.-235G>A rs765435500 0.00058
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.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.1478C>T (p.Pro493Leu) rs201801114 0.00039
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.2045G>A (p.Arg682Gln) rs543023683 0.00034
NM_015102.5(NPHP4):c.2485+9C>A rs200952409 0.00034
NM_015102.5(NPHP4):c.3859C>G (p.Gln1287Glu) rs201779243 0.00034
NM_015102.5(NPHP4):c.4034G>A (p.Gly1345Asp) rs200407553 0.00034
NM_015102.5(NPHP4):c.2714G>A (p.Ser905Asn) rs368298952 0.00033
NM_015102.5(NPHP4):c.2115T>C (p.Pro705=) rs200848754 0.00031
NM_015102.5(NPHP4):c.3110A>C (p.Glu1037Ala) rs200310448 0.00031
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.3705C>T (p.Arg1235=) rs199925943 0.00028
NM_015102.5(NPHP4):c.257C>T (p.Pro86Leu) rs201998215 0.00027
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.1844A>G (p.Gln615Arg) rs371424317 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_015102.4(NPHP4):c.-236C>T rs185912310 0.00022
NM_015102.5(NPHP4):c.1440G>A (p.Ser480=) rs374690894 0.00022
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.3518G>A (p.Arg1173His) rs137932153 0.00019
NM_015102.5(NPHP4):c.1813G>A (p.Gly605Ser) rs201282741 0.00018
NM_015102.5(NPHP4):c.3131G>A (p.Arg1044His) rs375819124 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.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.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.1376C>A (p.Thr459Lys) rs371819898 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.2642C>T (p.Ala881Val) rs369335626 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.3052G>A (p.Val1018Met) rs201433248 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.2830G>A (p.Val944Ile) rs188262700 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.1668C>T (p.Thr556=) rs753733095 0.00009
NM_015102.5(NPHP4):c.176G>A (p.Arg59Gln) rs200128117 0.00009
NM_015102.5(NPHP4):c.2951C>T (p.Thr984Met) rs377729557 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.868G>T (p.Gly290Cys) rs755124987 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.2833C>T (p.Arg945Cys) rs767344564 0.00008
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.2734C>T (p.Arg912Cys) rs368106760 0.00007
NM_015102.5(NPHP4):c.2866G>A (p.Ala956Thr) rs369624442 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.4019C>T (p.Ala1340Val) rs201560526 0.00007
NM_015102.5(NPHP4):c.1025G>A (p.Arg342His) rs369550765 0.00006
NM_015102.5(NPHP4):c.1088T>G (p.Val363Gly) rs369344801 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.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.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.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.1709A>G (p.Glu570Gly) rs200634524 0.00005
NM_015102.5(NPHP4):c.2143+3G>T rs762882392 0.00005
NM_015102.5(NPHP4):c.2323C>T (p.Arg775Trp) rs768582000 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.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.3757C>T (p.Arg1253Trp) rs762195159 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.1118A>G (p.Asn373Ser) rs556579725 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.1448C>G (p.Pro483Arg) rs759608529 0.00004
NM_015102.5(NPHP4):c.1634G>A (p.Gly545Asp) rs200800785 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.1874C>T (p.Pro625Leu) rs377160096 0.00004
NM_015102.5(NPHP4):c.1973G>A (p.Arg658Gln) rs767073232 0.00004
NM_015102.5(NPHP4):c.2752C>T (p.Arg918Trp) rs767779934 0.00004
NM_015102.5(NPHP4):c.2869G>A (p.Ala957Thr) rs772593921 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.2962G>A (p.Ala988Thr) rs770053255 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.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.3901C>T (p.Arg1301Cys) rs766610686 0.00004
NM_015102.5(NPHP4):c.4075C>T (p.Arg1359Trp) rs369162678 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.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.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.1715C>T (p.Pro572Leu) rs183722664 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.2246T>C (p.Ile749Thr) rs372250881 0.00003
NM_015102.5(NPHP4):c.2260G>A (p.Gly754Arg) rs373962831 0.00003
NM_015102.5(NPHP4):c.2419C>T (p.Arg807Cys) rs770004315 0.00003
NM_015102.5(NPHP4):c.2513G>A (p.Gly838Asp) rs1233207932 0.00003
NM_015102.5(NPHP4):c.2527C>G (p.Pro843Ala) rs775263560 0.00003
NM_015102.5(NPHP4):c.2620G>A (p.Val874Met) rs1412960310 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.3059G>C (p.Ser1020Thr) rs754216736 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.3417G>A (p.Pro1139=) rs371527260 0.00003
NM_015102.5(NPHP4):c.3452C>T (p.Pro1151Leu) rs549077156 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.3575G>A (p.Arg1192Gln) rs539967736 0.00003
NM_015102.5(NPHP4):c.3611C>T (p.Pro1204Leu) rs199625626 0.00003
NM_015102.5(NPHP4):c.3720C>T (p.Cys1240=) rs377728296 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.4106C>T (p.Pro1369Leu) rs746256511 0.00003
NM_015102.5(NPHP4):c.490C>T (p.His164Tyr) rs761063669 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.1418G>T (p.Arg473Met) rs754829412 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.1929G>A (p.Met643Ile) rs779995407 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.2304+6G>A rs751418752 0.00002
NM_015102.5(NPHP4):c.2347G>A (p.Glu783Lys) rs1349132502 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.2686C>T (p.Arg896Trp) rs754364004 0.00002
NM_015102.5(NPHP4):c.2740C>T (p.Arg914Cys) rs373603595 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.3200G>C (p.Ser1067Thr) rs1313851585 0.00002
NM_015102.5(NPHP4):c.3241G>C (p.Gly1081Arg) rs373981841 0.00002
NM_015102.5(NPHP4):c.3335G>A (p.Gly1112Asp) rs755637892 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.578C>T (p.Pro193Leu) rs779760001 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_015102.4(NPHP4):c.-225G>A rs886046469 0.00001
NM_015102.4(NPHP4):c.-237G>C rs867788720 0.00001
NM_015102.5(NPHP4):c.*285G>A rs1016860847 0.00001
NM_015102.5(NPHP4):c.*97T>A rs1016911668 0.00001
NM_015102.5(NPHP4):c.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.1119T>C (p.Asn373=) rs957523362 0.00001
NM_015102.5(NPHP4):c.1120-7A>G rs1223728002 0.00001
NM_015102.5(NPHP4):c.1147C>G (p.Leu383Val) rs760606576 0.00001
NM_015102.5(NPHP4):c.1253C>T (p.Ser418Leu) rs767476133 0.00001
NM_015102.5(NPHP4):c.1327C>T (p.Leu443Phe) rs756153293 0.00001
NM_015102.5(NPHP4):c.135+15T>C rs766470480 0.00001
NM_015102.5(NPHP4):c.135+5C>G rs201054350 0.00001
NM_015102.5(NPHP4):c.1360C>T (p.His454Tyr) rs374792772 0.00001
NM_015102.5(NPHP4):c.1388G>A (p.Ser463Asn) rs894737324 0.00001
NM_015102.5(NPHP4):c.1397A>G (p.Lys466Arg) rs373787394 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.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.1675G>A (p.Val559Ile) rs931907795 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.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.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.203G>A (p.Arg68Gln) rs761188193 0.00001
NM_015102.5(NPHP4):c.2051A>G (p.Gln684Arg) rs200667197 0.00001
NM_015102.5(NPHP4):c.2092G>A (p.Ala698Thr) rs1159326978 0.00001
NM_015102.5(NPHP4):c.20T>A (p.Ile7Asn) rs375883167 0.00001
NM_015102.5(NPHP4):c.2218C>T (p.Arg740Cys) rs766088144 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.2304+5C>T rs367651042 0.00001
NM_015102.5(NPHP4):c.2314C>T (p.Arg772Cys) rs149928611 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.2459G>A (p.Arg820Gln) rs759656675 0.00001
NM_015102.5(NPHP4):c.2482G>A (p.Val828Met) rs774129927 0.00001
NM_015102.5(NPHP4):c.2492C>T (p.Pro831Leu) rs568060648 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.2698G>A (p.Gly900Arg) rs1424882864 0.00001
NM_015102.5(NPHP4):c.2701C>T (p.Pro901Ser) rs886046464 0.00001
NM_015102.5(NPHP4):c.2710G>A (p.Val904Ile) rs886046463 0.00001
NM_015102.5(NPHP4):c.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.283T>G (p.Leu95Val) rs1384846275 0.00001
NM_015102.5(NPHP4):c.2848C>T (p.Arg950Trp) rs371939932 0.00001
NM_015102.5(NPHP4):c.2906G>A (p.Ser969Asn) rs770493717 0.00001
NM_015102.5(NPHP4):c.2959G>A (p.Val987Ile) rs377683582 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.3089C>G (p.Ala1030Gly) rs774683576 0.00001
NM_015102.5(NPHP4):c.3122T>C (p.Phe1041Ser) rs752229026 0.00001
NM_015102.5(NPHP4):c.3227T>C (p.Val1076Ala) rs201591531 0.00001
NM_015102.5(NPHP4):c.3262A>G (p.Met1088Val) rs779109338 0.00001
NM_015102.5(NPHP4):c.3271G>A (p.Val1091Met) rs761546950 0.00001
NM_015102.5(NPHP4):c.3349G>A (p.Ala1117Thr) rs764488616 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.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.3473-3C>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.355C>T (p.Arg119Trp) rs772214126 0.00001
NM_015102.5(NPHP4):c.3634A>G (p.Ile1212Val) rs960080480 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.3688C>G (p.Leu1230Val) rs1226725565 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.3769A>T (p.Thr1257Ser) rs770887836 0.00001
NM_015102.5(NPHP4):c.3801T>A (p.His1267Gln) rs1212384350 0.00001
NM_015102.5(NPHP4):c.3816+4C>T rs764632297 0.00001
NM_015102.5(NPHP4):c.3845C>T (p.Pro1282Leu) rs752820537 0.00001
NM_015102.5(NPHP4):c.3864C>T (p.Asp1288=) rs886046459 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.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.4057A>G (p.Thr1353Ala) rs950615557 0.00001
NM_015102.5(NPHP4):c.4140+3G>C rs755849307 0.00001
NM_015102.5(NPHP4):c.4181C>T (p.Ala1394Val) rs537985340 0.00001
NM_015102.5(NPHP4):c.4199G>A (p.Gly1400Asp) rs756370237 0.00001
NM_015102.5(NPHP4):c.4220A>G (p.Tyr1407Cys) rs373315843 0.00001
NM_015102.5(NPHP4):c.4239C>G (p.Asp1413Glu) rs763112800 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.457C>T (p.Arg153Trp) rs188946055 0.00001
NM_015102.5(NPHP4):c.505G>C (p.Asp169His) rs1237544876 0.00001
NM_015102.5(NPHP4):c.512C>T (p.Ala171Val) rs763307389 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.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.706C>T (p.Pro236Ser) rs1384084291 0.00001
NM_015102.5(NPHP4):c.713C>T (p.Thr238Met) rs752644932 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.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.88G>A (p.Ala30Thr) rs1187572016 0.00001
NM_015102.5(NPHP4):c.967A>G (p.Lys323Glu) rs763652381 0.00001
NC_000001.10:g.(?_5923325)_(6022029_?)dup
NC_000001.10:g.(?_5923325)_(6046349_?)dup
NC_000001.11:g.(?_5978270)_(5978413_?)del
NM_015102.5(NPHP4):c.*26C>T rs533259623
NM_015102.5(NPHP4):c.*87C>G rs1640812510
NM_015102.5(NPHP4):c.1017G>C (p.Leu339Phe) rs769587826
NM_015102.5(NPHP4):c.1031G>T (p.Arg344Leu)
NM_015102.5(NPHP4):c.1045G>A (p.Val349Ile)
NM_015102.5(NPHP4):c.1045G>T (p.Val349Phe)
NM_015102.5(NPHP4):c.1081G>C (p.Glu361Gln) rs2101924426
NM_015102.5(NPHP4):c.1109T>A (p.Val370Glu) rs2101923937
NM_015102.5(NPHP4):c.1119+6A>C rs2101923698
NM_015102.5(NPHP4):c.1119T>G (p.Asn373Lys)
NM_015102.5(NPHP4):c.1138C>G (p.Leu380Val)
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.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.1243C>T (p.Pro415Ser) rs1646366756
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.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.1306_1314dup
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.1346T>A (p.Leu449Gln) rs1437698448
NM_015102.5(NPHP4):c.1346T>C (p.Leu449Pro)
NM_015102.5(NPHP4):c.136-12G>C rs371432148
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.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.1427C>A (p.Pro476His) rs534853218
NM_015102.5(NPHP4):c.1442G>A (p.Ser481Asn) rs1645059863
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.1489C>A (p.Pro497Thr)
NM_015102.5(NPHP4):c.1503+2dup
NM_015102.5(NPHP4):c.1503+3A>C rs1184570247
NM_015102.5(NPHP4):c.1504-13T>G
NM_015102.5(NPHP4):c.1510A>G (p.Ile504Val)
NM_015102.5(NPHP4):c.1523C>T (p.Ala508Val) rs766910538
NM_015102.5(NPHP4):c.1525G>T (p.Ala509Ser)
NM_015102.5(NPHP4):c.1527C>T (p.Ala509=) rs773573886
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.1561A>T (p.Arg521Trp)
NM_015102.5(NPHP4):c.1567A>G (p.Thr523Ala)
NM_015102.5(NPHP4):c.1585G>C (p.Gly529Arg) rs750626428
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+3A>C
NM_015102.5(NPHP4):c.1617G>T (p.Glu539Asp)
NM_015102.5(NPHP4):c.1633G>A (p.Gly545Ser)
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.1691T>C (p.Ile564Thr)
NM_015102.5(NPHP4):c.1715C>A (p.Pro572Gln) rs183722664
NM_015102.5(NPHP4):c.1721C>T (p.Thr574Met)
NM_015102.5(NPHP4):c.1732G>C (p.Ala578Pro) rs1557700541
NM_015102.5(NPHP4):c.1733C>T (p.Ala578Val)
NM_015102.5(NPHP4):c.1736C>A (p.Pro579His) rs2101139333
NM_015102.5(NPHP4):c.1740TGT[1] (p.Val582del) rs1282891020
NM_015102.5(NPHP4):c.1792A>G (p.Met598Val) rs926493923
NM_015102.5(NPHP4):c.1811C>T (p.Ser604Phe)
NM_015102.5(NPHP4):c.1820C>T (p.Pro607Leu)
NM_015102.5(NPHP4):c.1831G>C (p.Asp611His)
NM_015102.5(NPHP4):c.1838A>G (p.Asn613Ser) rs1557699489
NM_015102.5(NPHP4):c.1846C>G (p.Pro616Ala)
NM_015102.5(NPHP4):c.1888C>A (p.Pro630Thr)
NM_015102.5(NPHP4):c.1897G>A (p.Glu633Lys)
NM_015102.5(NPHP4):c.1906G>A (p.Asp636Asn)
NM_015102.5(NPHP4):c.1949T>G (p.Phe650Cys) rs1644859413
NM_015102.5(NPHP4):c.1955+3A>G
NM_015102.5(NPHP4):c.1955+7C>A rs886046466
NM_015102.5(NPHP4):c.1956-3C>T
NM_015102.5(NPHP4):c.1957G>C (p.Val653Leu) rs1644835961
NM_015102.5(NPHP4):c.1967A>G (p.Asp656Gly)
NM_015102.5(NPHP4):c.1987C>A (p.Pro663Thr) rs886046465
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.2029C>T (p.Pro677Ser) rs547495754
NM_015102.5(NPHP4):c.202C>A (p.Arg68=) rs771873685
NM_015102.5(NPHP4):c.2032G>T (p.Ala678Ser) rs368101076
NM_015102.5(NPHP4):c.2045G>C (p.Arg682Pro) rs543023683
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>G (p.Asp709Gly)
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.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.2186T>C (p.Phe729Ser) rs1260036696
NM_015102.5(NPHP4):c.218G>C (p.Arg73Thr)
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.2218C>G (p.Arg740Gly)
NM_015102.5(NPHP4):c.2241_2242delinsAA (p.Gln748Lys) rs2100920979
NM_015102.5(NPHP4):c.2267C>T (p.Ser756Phe) rs773994262
NM_015102.5(NPHP4):c.2275C>T (p.Leu759Phe)
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.2290G>A (p.Ala764Thr)
NM_015102.5(NPHP4):c.2299A>T (p.Met767Leu) rs1485681184
NM_015102.5(NPHP4):c.2309T>C (p.Leu770Pro)
NM_015102.5(NPHP4):c.2312T>A (p.Leu771His) rs1237462272
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>T (p.Pro776Leu) rs201527181
NM_015102.5(NPHP4):c.2358_2360del (p.Val787del) rs751681273
NM_015102.5(NPHP4):c.2360T>A (p.Val787Glu) rs587783026
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.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.2434G>A (p.Gly812Ser) rs755644390
NM_015102.5(NPHP4):c.2435G>A (p.Gly812Asp)
NM_015102.5(NPHP4):c.2447T>A (p.Val816Glu) rs1217129334
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.248_250del (p.Lys83del)
NM_015102.5(NPHP4):c.249G>C (p.Lys83Asn)
NM_015102.5(NPHP4):c.2570G>A (p.Arg857His)
NM_015102.5(NPHP4):c.2587C>A (p.Leu863Ile)
NM_015102.5(NPHP4):c.2609G>A (p.Arg870Lys) rs993280899
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.268G>C (p.Val90Leu) rs561876203
NM_015102.5(NPHP4):c.2734C>G (p.Arg912Gly) rs368106760
NM_015102.5(NPHP4):c.2758A>C (p.Arg920=)
NM_015102.5(NPHP4):c.2767C>T (p.Arg923Cys)
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+6G>A rs1642683309
NM_015102.5(NPHP4):c.2818-15T>G
NM_015102.5(NPHP4):c.2819C>A (p.Ala940Glu) rs200136271
NM_015102.5(NPHP4):c.2876G>C (p.Arg959Pro) rs12084067
NM_015102.5(NPHP4):c.2890G>C (p.Ala964Pro)
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.2941C>G (p.Leu981Val)
NM_015102.5(NPHP4):c.2947G>C (p.Ala983Pro) rs760239548
NM_015102.5(NPHP4):c.2962G>T (p.Ala988Ser) rs770053255
NM_015102.5(NPHP4):c.2993C>G (p.Pro998Arg)
NM_015102.5(NPHP4):c.3027C>G (p.Ile1009Met) rs762202268
NM_015102.5(NPHP4):c.3045-4C>A rs886046462
NM_015102.5(NPHP4):c.3078C>T (p.Phe1026=) rs886046461
NM_015102.5(NPHP4):c.3082G>A (p.Gly1028Ser) rs1557616048
NM_015102.5(NPHP4):c.3082G>C (p.Gly1028Arg) rs1557616048
NM_015102.5(NPHP4):c.310C>G (p.Pro104Ala) rs1286255762
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.3146C>T (p.Pro1049Leu) rs938043515
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.318C>A (p.Ile106=)
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.3223_3224delinsTG (p.Met1075Trp)
NM_015102.5(NPHP4):c.3231+4C>T
NM_015102.5(NPHP4):c.3231+6G>A
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.3274T>C (p.Ser1092Pro) rs2100596464
NM_015102.5(NPHP4):c.3299C>A (p.Pro1100His)
NM_015102.5(NPHP4):c.3301A>G (p.Thr1101Ala) rs372569755
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.3373C>A (p.Leu1125Met) rs2100469427
NM_015102.5(NPHP4):c.3379C>T (p.Pro1127Ser)
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.3393C>A (p.Asp1131Glu) rs2100468544
NM_015102.5(NPHP4):c.3398T>C (p.Val1133Ala) rs2100468384
NM_015102.5(NPHP4):c.343G>A (p.Glu115Lys)
NM_015102.5(NPHP4):c.3440C>T (p.Ala1147Val)
NM_015102.5(NPHP4):c.3461A>G (p.His1154Arg)
NM_015102.5(NPHP4):c.3467T>A (p.Phe1156Tyr)
NM_015102.5(NPHP4):c.3484G>C (p.Gly1162Arg) rs1304901558
NM_015102.5(NPHP4):c.3498G>T (p.Glu1166Asp) rs1387983031
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.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.3538A>T (p.Ile1180Phe) rs956330607
NM_015102.5(NPHP4):c.3565G>A (p.Gly1189Arg)
NM_015102.5(NPHP4):c.3570A>C (p.Glu1190Asp) rs555164
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.3631G>A (p.Val1211Ile)
NM_015102.5(NPHP4):c.3636C>G (p.Ile1212Met)
NM_015102.5(NPHP4):c.3644C>T (p.Ser1215Leu)
NM_015102.5(NPHP4):c.3656T>C (p.Leu1219Pro) rs1641092466
NM_015102.5(NPHP4):c.3670C>G (p.Gln1224Glu) rs1469154562
NM_015102.5(NPHP4):c.3702G>A (p.Gln1234=)
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.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.3788C>G (p.Ala1263Gly) rs1641072103
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>C (p.Glu1270Asp) rs1344500018
NM_015102.5(NPHP4):c.3816G>C (p.Lys1272Asn)
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.3877G>T (p.Val1293Leu) rs769488870
NM_015102.5(NPHP4):c.3886C>T (p.Leu1296Phe) rs2100388131
NM_015102.5(NPHP4):c.3902G>T (p.Arg1301Leu) rs760871475
NM_015102.5(NPHP4):c.3913C>A (p.Leu1305Ile) rs2100386839
NM_015102.5(NPHP4):c.3920T>A (p.Leu1307Gln) rs2100386611
NM_015102.5(NPHP4):c.3959T>C (p.Leu1320Pro)
NM_015102.5(NPHP4):c.3964T>G (p.Cys1322Gly) rs748449029
NM_015102.5(NPHP4):c.3971G>C (p.Cys1324Ser) rs1371346310
NM_015102.5(NPHP4):c.3996+4T>C
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.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.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.4093C>T (p.His1365Tyr) rs2100372334
NM_015102.5(NPHP4):c.4117C>T (p.Arg1373Trp) rs1417370808
NM_015102.5(NPHP4):c.4140+9G>A
NM_015102.5(NPHP4):c.4141G>A (p.Val1381Ile)
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.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.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.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.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.493C>T (p.Pro165Ser) rs772978482
NM_015102.5(NPHP4):c.508C>T (p.Pro170Ser) rs1052194098
NM_015102.5(NPHP4):c.517C>A (p.Gln173Lys)
NM_015102.5(NPHP4):c.548G>C (p.Cys183Ser)
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.61G>A (p.Ala21Thr)
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+18T>G
NM_015102.5(NPHP4):c.673+5G>T rs1346224220
NM_015102.5(NPHP4):c.673G>T (p.Gly225Cys)
NM_015102.5(NPHP4):c.674-3C>T rs1000557946
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.713C>A (p.Thr238Lys) rs752644932
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.766G>A (p.Glu256Lys)
NM_015102.5(NPHP4):c.771A>C (p.Glu257Asp) rs1648398783
NM_015102.5(NPHP4):c.820C>G (p.Pro274Ala) rs886046467
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.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.890T>A (p.Phe297Tyr)
NM_015102.5(NPHP4):c.897G>C (p.Gln299His)
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.96G>T (p.Gln32His) rs776102193
NM_015102.5(NPHP4):c.973G>C (p.Val325Leu)
NM_015102.5(NPHP4):c.977C>T (p.Ser326Phe)
NM_015102.5(NPHP4):c.985A>C (p.Lys329Gln)
NM_015102.5(NPHP4):c.992+4T>G rs1647207716
NM_015102.5(NPHP4):c.992G>C (p.Ser331Thr)
NM_015102.5(NPHP4):c.993-3C>G

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