ClinVar Miner

List of variants studied for Nephronophthisis by Labcorp Genetics (formerly Invitae), Labcorp

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ClinVar version:
Total variants: 4465
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HGVS dbSNP gnomAD frequency
NM_032575.3(GLIS2):c.864T>C (p.Tyr288=) rs669561 0.97986
NM_015102.5(NPHP4):c.2818-2= rs1217117155 0.84829
NM_001023570.4(IQCB1):c.574C>T (p.Leu192=) rs4543051 0.64838
NM_014425.5(INVS):c.2412T>C (p.Ser804=) rs2787374 0.53208
NM_001128178.3(NPHP1):c.654G>A (p.Glu218=) rs11675767 0.38033
NM_015102.5(NPHP4):c.2802C>T (p.Arg934=) rs3747992 0.36928
NM_015102.5(NPHP4):c.3570A>G (p.Glu1190=) rs555164 0.35094
NM_014425.5(INVS):c.1235-5T>C rs2245216 0.30271
NM_032575.3(GLIS2):c.1311A>C (p.Ala437=) rs3810817 0.27719
NM_001023570.4(IQCB1):c.1301G>A (p.Cys434Tyr) rs17849995 0.25469
NM_014425.5(INVS):c.274-15_274-14del rs61147858 0.18785
NM_014425.5(INVS):c.-110T>G rs7024375 0.17693
NM_015102.5(NPHP4):c.1441+13A>G rs7520105 0.17476
NM_153240.5(NPHP3):c.3759G>A (p.Leu1253=) rs6794496 0.13621
NM_015102.5(NPHP4):c.2643G>A (p.Ala881=) rs3747990 0.11763
NM_015102.5(NPHP4):c.1926G>A (p.Glu642=) rs12120967 0.11732
NM_001023570.4(IQCB1):c.1178T>A (p.Ile393Asn) rs1141528 0.09226
NM_032575.3(GLIS2):c.1474A>G (p.Thr492Ala) rs8057701 0.06483
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_153240.5(NPHP3):c.2610G>A (p.Pro870=) rs16839515 0.04323
NM_001128178.3(NPHP1):c.771+39C>T rs73954628 0.03266
NM_015102.5(NPHP4):c.2724G>A (p.Ser908=) rs114545322 0.03032
NM_153240.5(NPHP3):c.2571-7T>C rs62292468 0.02974
NM_014425.5(INVS):c.2402G>A (p.Gly801Glu) rs76868679 0.02854
NM_015102.5(NPHP4):c.1631C>G (p.Ala544Gly) rs12093500 0.02840
NM_001128178.3(NPHP1):c.115C>A (p.Pro39Thr) rs33958626 0.02731
NM_015102.5(NPHP4):c.2219G>A (p.Arg740His) rs34248917 0.02256
NM_014425.5(INVS):c.616-19T>C rs78038572 0.01891
NM_032575.3(GLIS2):c.223G>T (p.Ala75Ser) rs72766563 0.01854
NM_153240.5(NPHP3):c.864T>A (p.Thr288=) rs147932449 0.01825
NM_153240.5(NPHP3):c.3913C>T (p.Arg1305Cys) rs35485382 0.01709
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_153240.5(NPHP3):c.1986G>A (p.Arg662=) rs77533254 0.01496
NM_015102.5(NPHP4):c.2808G>A (p.Thr936=) rs17028857 0.01235
NM_001023570.4(IQCB1):c.1303C>T (p.Arg435Cys) rs11920543 0.01165
NM_015102.5(NPHP4):c.3479C>T (p.Pro1160Leu) rs113445782 0.01143
NM_001128178.3(NPHP1):c.689C>T (p.Ala230Val) rs113450177 0.01140
NM_153240.5(NPHP3):c.57G>C (p.Thr19=) rs192633696 0.01128
NM_001023570.4(IQCB1):c.424T>C (p.Phe142Leu) rs11926958 0.01125
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_001128178.3(NPHP1):c.1529+19C>T rs112090979 0.01096
NM_153240.5(NPHP3):c.154G>A (p.Ala52Thr) rs145643112 0.01037
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_032575.3(GLIS2):c.1259C>T (p.Pro420Leu) rs75495782 0.00923
NM_153240.5(NPHP3):c.450G>A (p.Ala150=) rs78527322 0.00906
NM_032575.3(GLIS2):c.70C>A (p.Arg24=) rs34543395 0.00866
NM_001128178.3(NPHP1):c.772-17G>A rs146343637 0.00862
NM_032575.3(GLIS2):c.894C>T (p.Pro298=) rs112926217 0.00791
NM_153240.5(NPHP3):c.3550G>A (p.Ala1184Thr) rs34391943 0.00744
NM_015102.5(NPHP4):c.1542G>A (p.Pro514=) rs35264155 0.00677
NM_153240.5(NPHP3):c.3941G>C (p.Ser1314Thr) rs75316802 0.00658
NM_153240.5(NPHP3):c.1887+6G>A rs79113972 0.00654
NM_153240.5(NPHP3):c.3252A>G (p.Thr1084=) rs11915053 0.00629
NM_032575.3(GLIS2):c.1476G>A (p.Thr492=) rs140403969 0.00608
NM_015102.5(NPHP4):c.1442-7C>T rs146078470 0.00599
NM_015102.5(NPHP4):c.3674C>T (p.Thr1225Met) rs144624477 0.00576
NM_014425.5(INVS):c.102C>T (p.Ile34=) rs115640267 0.00549
NM_014425.5(INVS):c.740A>G (p.Asn247Ser) rs41312220 0.00526
NM_014425.5(INVS):c.725C>T (p.Ser242Leu) rs2491097 0.00485
NM_015102.5(NPHP4):c.3894C>T (p.Ala1298=) rs60094861 0.00477
NM_032575.3(GLIS2):c.1464G>A (p.Leu488=) rs149580171 0.00467
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_153240.5(NPHP3):c.2089-9C>T rs141397228 0.00404
NM_015102.5(NPHP4):c.279+11G>A rs113902159 0.00401
NM_014425.5(INVS):c.1948G>C (p.Ala650Pro) rs147452898 0.00394
NM_014425.5(INVS):c.2116A>G (p.Arg706Gly) rs116222916 0.00384
NM_015102.5(NPHP4):c.3329C>T (p.Ala1110Val) rs139767853 0.00374
NM_015102.5(NPHP4):c.1503+10G>A rs41307782 0.00367
NM_001128178.3(NPHP1):c.14G>T (p.Arg5Leu) rs190983114 0.00366
NM_153240.5(NPHP3):c.520-10C>G rs200144727 0.00362
NM_153240.5(NPHP3):c.1189C>T (p.Arg397Cys) rs141477666 0.00334
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_014425.5(INVS):c.1284T>C (p.His428=) rs77465715 0.00312
NM_032575.3(GLIS2):c.775+20C>T rs116598071 0.00297
NM_015102.5(NPHP4):c.3559-19del rs201335783 0.00292
NM_015102.5(NPHP4):c.3036C>T (p.Pro1012=) rs34265978 0.00283
NM_001023570.4(IQCB1):c.588T>C (p.Ser196=) rs80015876 0.00267
NM_015102.5(NPHP4):c.1622C>T (p.Pro541Leu) rs145255635 0.00265
NM_032575.3(GLIS2):c.415G>A (p.Gly139Arg) rs147175353 0.00265
NM_001023570.4(IQCB1):c.1549A>T (p.Asn517Tyr) rs139468837 0.00237
NM_014425.5(INVS):c.2803C>T (p.His935Tyr) rs139768159 0.00232
NM_153240.5(NPHP3):c.2693+17A>G rs200046908 0.00212
NM_001128178.3(NPHP1):c.133A>C (p.Ile45Leu) rs145479679 0.00211
NM_153240.5(NPHP3):c.1157A>G (p.Asn386Ser) rs142021049 0.00211
NM_001128178.3(NPHP1):c.771+59G>A rs143174377 0.00203
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_001128178.3(NPHP1):c.1270-4C>T rs151204566 0.00181
NM_014425.5(INVS):c.3017-5T>G rs201018893 0.00177
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_014425.5(INVS):c.2193C>T (p.Gly731=) rs148758887 0.00158
NM_032575.3(GLIS2):c.1011G>A (p.Pro337=) rs200814551 0.00156
NM_153240.5(NPHP3):c.3221G>A (p.Arg1074His) rs144781228 0.00154
NM_015102.5(NPHP4):c.2519G>A (p.Ser840Asn) rs147588666 0.00147
NM_001023570.4(IQCB1):c.1441G>A (p.Glu481Lys) rs140630401 0.00145
NM_001023570.4(IQCB1):c.1703T>C (p.Leu568Pro) rs145400780 0.00143
NM_153240.5(NPHP3):c.449C>T (p.Ala150Val) rs142663818 0.00142
NM_014425.5(INVS):c.913G>A (p.Val305Ile) rs116438342 0.00140
NM_032575.3(GLIS2):c.1010C>T (p.Pro337Leu) rs140544340 0.00128
NM_001128178.3(NPHP1):c.232T>C (p.Tyr78His) rs140446520 0.00127
NM_015102.5(NPHP4):c.3911A>G (p.His1304Arg) rs115488133 0.00124
NM_015102.5(NPHP4):c.800A>T (p.His267Leu) rs201124357 0.00124
NM_153240.5(NPHP3):c.2883+13G>C rs112375565 0.00122
NM_001128178.3(NPHP1):c.803T>C (p.Met268Thr) rs114250691 0.00121
NM_015102.5(NPHP4):c.3168C>T (p.His1056=) rs376351293 0.00121
NM_153240.5(NPHP3):c.3189A>G (p.Lys1063=) rs112386774 0.00121
NM_153240.5(NPHP3):c.3570+9G>T rs112749193 0.00121
NM_153240.5(NPHP3):c.3971T>C (p.Phe1324Ser) rs113364886 0.00121
NM_153240.5(NPHP3):c.3093A>G (p.Glu1031=) rs112300370 0.00120
NM_014425.5(INVS):c.2310C>T (p.His770=) rs116606949 0.00118
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_153240.5(NPHP3):c.3664T>C (p.Leu1222=) rs142616619 0.00107
NM_015102.5(NPHP4):c.2653A>C (p.Ser885Arg) rs112206586 0.00102
NM_015102.5(NPHP4):c.3232-12C>T rs370840400 0.00101
NM_153240.5(NPHP3):c.3663C>T (p.Ala1221=) rs112144165 0.00099
NM_015102.5(NPHP4):c.2203C>T (p.Arg735Trp) rs191913664 0.00096
NM_032575.3(GLIS2):c.477G>A (p.Ser159=) rs148123444 0.00096
NM_001128178.3(NPHP1):c.1269+9G>A rs13414551 0.00089
NM_001128178.3(NPHP1):c.953C>T (p.Thr318Ile) rs140469160 0.00088
NM_014425.5(INVS):c.1945G>A (p.Val649Met) rs115042730 0.00087
NM_015102.5(NPHP4):c.2940G>A (p.Thr980=) rs146948888 0.00087
NM_153240.5(NPHP3):c.105G>A (p.Lys35=) rs377060857 0.00085
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_014425.5(INVS):c.1925A>G (p.Lys642Arg) rs116314059 0.00076
NM_015102.5(NPHP4):c.3843G>T (p.Leu1281=) rs9662691 0.00076
NM_014425.5(INVS):c.2311G>A (p.Asp771Asn) rs115754570 0.00074
NM_015102.5(NPHP4):c.2257G>A (p.Asp753Asn) rs148424288 0.00074
NM_014425.5(INVS):c.1704G>A (p.Gly568=) rs114645869 0.00073
NM_014425.5(INVS):c.2775C>T (p.Arg925=) rs146360442 0.00071
NM_014425.5(INVS):c.2517G>A (p.Lys839=) rs147041710 0.00070
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_153240.5(NPHP3):c.2442T>C (p.Tyr814=) rs111683745 0.00068
NM_001023570.4(IQCB1):c.560T>A (p.Met187Lys) rs146796158 0.00067
NM_014425.5(INVS):c.2454G>A (p.Ala818=) rs115937161 0.00067
NM_014425.5(INVS):c.367C>T (p.Arg123Trp) rs149315279 0.00067
NM_015102.5(NPHP4):c.2458C>T (p.Arg820Trp) rs200182705 0.00067
NM_015102.5(NPHP4):c.4141-11C>T rs139203183 0.00066
NM_153240.5(NPHP3):c.2769C>T (p.Phe923=) rs116174472 0.00066
NM_153240.5(NPHP3):c.3756C>G (p.Ser1252Arg) rs143451766 0.00065
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_001128178.3(NPHP1):c.1419A>G (p.Ile473Met) rs147945403 0.00059
NM_014425.5(INVS):c.2313T>C (p.Asp771=) rs147112151 0.00059
NM_001023570.4(IQCB1):c.393+15A>G rs369407077 0.00058
NM_014425.5(INVS):c.2386C>G (p.Gln796Glu) rs147731667 0.00058
NM_015102.5(NPHP4):c.7G>T (p.Asp3Tyr) rs145078518 0.00057
NM_032575.3(GLIS2):c.1105G>A (p.Gly369Ser) rs200720013 0.00056
NM_153240.5(NPHP3):c.3281G>A (p.Arg1094Gln) rs146890274 0.00054
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_014425.5(INVS):c.1971C>G (p.Asp657Glu) rs114942117 0.00048
NM_014425.5(INVS):c.2785A>G (p.Ser929Gly) rs116188920 0.00048
NM_015102.5(NPHP4):c.1935A>G (p.Leu645=) rs200104274 0.00048
NM_001128178.3(NPHP1):c.771+134G>A rs140151060 0.00046
NM_032575.3(GLIS2):c.1284G>A (p.Leu428=) rs202243000 0.00046
NM_032575.3(GLIS2):c.1350G>A (p.Ser450=) rs150464446 0.00046
NM_001023570.4(IQCB1):c.877-11C>T rs192296154 0.00045
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_153240.5(NPHP3):c.393+18C>T rs367765709 0.00042
NM_015102.5(NPHP4):c.1850C>T (p.Ala617Val) rs190522911 0.00041
NM_001023570.4(IQCB1):c.782T>G (p.Leu261Arg) rs199959360 0.00040
NM_015102.5(NPHP4):c.3837C>T (p.Phe1279=) rs375237454 0.00040
NM_153240.5(NPHP3):c.3717G>A (p.Leu1239=) rs146759786 0.00040
NM_001128178.3(NPHP1):c.801G>A (p.Thr267=) rs141763330 0.00039
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_001023570.4(IQCB1):c.322C>T (p.Leu108Phe) rs146580215 0.00036
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_032575.3(GLIS2):c.239A>T (p.Asp80Val) rs144447862 0.00036
NM_153240.5(NPHP3):c.2881C>G (p.Gln961Glu) rs144989330 0.00036
NM_015102.5(NPHP4):c.3612G>A (p.Pro1204=) rs374003717 0.00035
NM_014425.5(INVS):c.2056A>G (p.Arg686Gly) rs150001738 0.00034
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_153240.5(NPHP3):c.2884-4C>G rs185913426 0.00034
NM_001128178.3(NPHP1):c.1469G>A (p.Arg490Lys) rs149887461 0.00033
NM_001128178.3(NPHP1):c.836C>T (p.Thr279Met) rs200201945 0.00033
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_153240.5(NPHP3):c.3500G>A (p.Arg1167His) rs111727307 0.00033
NM_014425.5(INVS):c.118C>G (p.Leu40Val) rs148219510 0.00032
NM_014425.5(INVS):c.2278T>G (p.Ser760Ala) rs146901872 0.00032
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_001023570.4(IQCB1):c.987-17C>T rs187649158 0.00029
NM_001128178.3(NPHP1):c.43C>A (p.Arg15Ser) rs373915635 0.00029
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_001128178.3(NPHP1):c.1382C>G (p.Thr461Ser) rs189982575 0.00028
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_001128178.3(NPHP1):c.771+169G>T rs150520157 0.00027
NM_015102.5(NPHP4):c.257C>T (p.Pro86Leu) rs201998215 0.00027
NM_014425.5(INVS):c.1122G>A (p.Lys374=) rs140255233 0.00026
NM_014425.5(INVS):c.2664T>C (p.Ser888=) rs1052867 0.00026
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_153240.5(NPHP3):c.1082C>G (p.Ser361Cys) rs146250226 0.00026
NM_153240.5(NPHP3):c.1172C>G (p.Pro391Arg) rs138982161 0.00026
NM_153240.5(NPHP3):c.118C>T (p.Leu40=) rs374281831 0.00026
NM_153240.5(NPHP3):c.2694-2_2694-1del rs751527253 0.00026
NM_153240.5(NPHP3):c.276G>C (p.Glu92Asp) rs143930288 0.00026
NM_153240.5(NPHP3):c.408G>A (p.Thr136=) rs141410951 0.00026
NM_001023570.4(IQCB1):c.264-10C>T rs199800276 0.00025
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_032575.3(GLIS2):c.1569G>A (p.Val523=) rs371022001 0.00025
NM_032575.3(GLIS2):c.693C>T (p.Asn231=) rs150071733 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_032575.3(GLIS2):c.1023C>T (p.Ala341=) rs777660944 0.00024
NM_032575.3(GLIS2):c.1180G>A (p.Gly394Ser) rs775114398 0.00024
NM_153240.5(NPHP3):c.1629-17C>A rs145056102 0.00024
NM_001128178.3(NPHP1):c.771+89A>G rs139787582 0.00023
NM_015102.5(NPHP4):c.3105G>A (p.Pro1035=) rs151151838 0.00023
NM_032575.3(GLIS2):c.1431C>T (p.Pro477=) rs150810544 0.00023
NM_001128178.3(NPHP1):c.771+2C>T rs189320299 0.00022
NM_014425.5(INVS):c.114T>C (p.Ser38=) rs114056499 0.00022
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_001128178.3(NPHP1):c.336G>A (p.Gly112=) rs144217506 0.00021
NM_001128178.3(NPHP1):c.69+4T>C rs570913772 0.00021
NM_014425.5(INVS):c.67G>A (p.Val23Ile) rs145303373 0.00021
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_153240.5(NPHP3):c.2172-4A>G rs375032661 0.00020
NM_153240.5(NPHP3):c.3336T>C (p.Ala1112=) rs188431787 0.00020
NM_001128178.3(NPHP1):c.619C>G (p.Leu207Val) rs144088139 0.00019
NM_001128178.3(NPHP1):c.867A>G (p.Gln289=) rs371112962 0.00019
NM_015102.5(NPHP4):c.1120-13G>T rs192450719 0.00019
NM_015102.5(NPHP4):c.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_153240.5(NPHP3):c.3812+16A>G rs376029054 0.00019
NM_001128178.3(NPHP1):c.1721C>T (p.Ser574Leu) rs138181219 0.00018
NM_001128178.3(NPHP1):c.2007G>A (p.Leu669=) rs151120697 0.00018
NM_014425.5(INVS):c.1785-20T>G rs200028895 0.00018
NM_015102.5(NPHP4):c.1813G>A (p.Gly605Ser) rs201282741 0.00018
NM_001128178.3(NPHP1):c.771+33G>A rs751388694 0.00017
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_153240.5(NPHP3):c.944A>T (p.Asp315Val) rs149565564 0.00017
NM_014425.5(INVS):c.1459A>C (p.Lys487Gln) rs398124271 0.00016
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.3961G>A (p.Val1321Met) rs372485746 0.00016
NM_015102.5(NPHP4):c.467A>G (p.His156Arg) rs199897869 0.00016
NM_153240.5(NPHP3):c.2688T>C (p.Tyr896=) rs150489788 0.00016
NM_153240.5(NPHP3):c.3990G>A (p.Arg1330=) rs147332157 0.00016
NM_001023570.4(IQCB1):c.1153G>C (p.Glu385Gln) rs772153735 0.00015
NM_001023570.4(IQCB1):c.1311A>G (p.Lys437=) rs142536967 0.00015
NM_001023570.4(IQCB1):c.588-5A>G rs370451583 0.00015
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_153240.5(NPHP3):c.3126-8T>G rs201592109 0.00015
NM_153240.5(NPHP3):c.621A>G (p.Val207=) rs139693694 0.00015
NM_153240.5(NPHP3):c.670+6T>C rs190074663 0.00015
NM_001128178.3(NPHP1):c.1913A>G (p.Gln638Arg) rs186950965 0.00014
NM_014425.5(INVS):c.1220A>C (p.Gln407Pro) rs374662619 0.00014
NM_014425.5(INVS):c.1264G>C (p.Asp422His) rs145243134 0.00014
NM_015102.5(NPHP4):c.1445C>T (p.Pro482Leu) rs372565083 0.00014
NM_015102.5(NPHP4):c.2490C>T (p.His830=) rs549982601 0.00014
NM_015102.5(NPHP4):c.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_153240.5(NPHP3):c.1183T>G (p.Phe395Val) rs764000635 0.00014
NM_153240.5(NPHP3):c.1813C>T (p.Arg605Cys) rs144731534 0.00014
NM_153240.5(NPHP3):c.3504A>G (p.Ala1168=) rs371505908 0.00014
NM_001128178.3(NPHP1):c.859G>A (p.Gly287Arg) rs121907899 0.00013
NM_015102.5(NPHP4):c.1319C>T (p.Ser440Leu) rs749571139 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_153240.5(NPHP3):c.1930G>A (p.Val644Met) rs1238689431 0.00013
NM_153240.5(NPHP3):c.2395T>C (p.Leu799=) rs201015677 0.00013
NM_153240.5(NPHP3):c.3570+4A>G rs374989123 0.00013
NM_001128178.3(NPHP1):c.1787C>T (p.Thr596Met) rs201460699 0.00012
NM_001128178.3(NPHP1):c.599G>A (p.Gly200Asp) rs373951297 0.00012
NM_014425.5(INVS):c.1787A>G (p.Lys596Arg) rs751587570 0.00012
NM_014425.5(INVS):c.198T>C (p.Ala66=) rs150557072 0.00012
NM_014425.5(INVS):c.2776G>A (p.Ala926Thr) rs374891838 0.00012
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_153240.5(NPHP3):c.2883+16C>T rs376492280 0.00012
NM_001023570.4(IQCB1):c.1281G>A (p.Ala427=) rs201319850 0.00011
NM_001023570.4(IQCB1):c.1381C>T (p.Arg461Ter) rs121918244 0.00011
NM_001128178.3(NPHP1):c.1270-18A>G rs534210307 0.00011
NM_014425.5(INVS):c.2685C>T (p.Pro895=) rs371932940 0.00011
NM_014425.5(INVS):c.706G>A (p.Val236Met) rs150883233 0.00011
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_032575.3(GLIS2):c.304C>T (p.Arg102Cys) rs371434004 0.00011
NM_032575.3(GLIS2):c.627C>T (p.Cys209=) rs746571582 0.00011
NM_153240.5(NPHP3):c.2132A>G (p.Asn711Ser) rs117872197 0.00011
NM_153240.5(NPHP3):c.3662C>T (p.Ala1221Val) rs202048210 0.00011
NM_153240.5(NPHP3):c.65C>T (p.Ala22Val) rs369447363 0.00011
NM_001023570.4(IQCB1):c.1000A>C (p.Lys334Gln) rs532987681 0.00010
NM_001023570.4(IQCB1):c.588-16T>A rs766712921 0.00010
NM_001023570.4(IQCB1):c.767-12A>G rs367899924 0.00010
NM_015102.5(NPHP4):c.1126T>G (p.Ser376Ala) rs199561679 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_032575.3(GLIS2):c.1326C>T (p.Ala442=) rs767819594 0.00010
NM_032575.3(GLIS2):c.291G>A (p.Ser97=) rs529581775 0.00010
NM_153240.5(NPHP3):c.1744-12C>G rs367785168 0.00010
NM_153240.5(NPHP3):c.2104C>T (p.Arg702Ter) rs267606916 0.00010
NM_153240.5(NPHP3):c.2155G>A (p.Gly719Ser) rs369022568 0.00010
NM_153240.5(NPHP3):c.2497G>C (p.Glu833Gln) rs142084136 0.00010
NM_153240.5(NPHP3):c.87G>T (p.Glu29Asp) rs951093397 0.00010
NM_153240.5(NPHP3):c.981A>C (p.Arg327Ser) rs562721694 0.00010
NM_001023570.4(IQCB1):c.1123C>A (p.His375Asn) rs137890014 0.00009
NM_001023570.4(IQCB1):c.1130-11C>A rs373634080 0.00009
NM_001023570.4(IQCB1):c.1518C>T (p.His506=) rs552232586 0.00009
NM_001023570.4(IQCB1):c.543A>G (p.Gly181=) rs372658786 0.00009
NM_001128178.3(NPHP1):c.1524A>G (p.Val508=) rs146220435 0.00009
NM_001128178.3(NPHP1):c.493G>A (p.Ala165Thr) rs377676279 0.00009
NM_001128178.3(NPHP1):c.61A>G (p.Lys21Glu) rs1033790263 0.00009
NM_014425.5(INVS):c.1661T>C (p.Ile554Thr) rs748753412 0.00009
NM_014425.5(INVS):c.1675G>A (p.Ala559Thr) rs199553226 0.00009
NM_014425.5(INVS):c.2695C>T (p.Arg899Ter) rs200844390 0.00009
NM_014425.5(INVS):c.284G>A (p.Arg95His) rs372088206 0.00009
NM_014425.5(INVS):c.307C>T (p.Arg103Cys) rs750863293 0.00009
NM_014425.5(INVS):c.3099C>T (p.Asn1033=) rs368303175 0.00009
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.868G>T (p.Gly290Cys) rs755124987 0.00009
NM_032575.3(GLIS2):c.1177G>A (p.Gly393Arg) rs759416922 0.00009
NM_032575.3(GLIS2):c.1273G>A (p.Gly425Arg) rs199849300 0.00009
NM_153240.5(NPHP3):c.2931A>G (p.Leu977=) rs146316936 0.00009
NM_153240.5(NPHP3):c.3763C>T (p.Arg1255Trp) rs146054765 0.00009
NM_153240.5(NPHP3):c.3896G>A (p.Gly1299Asp) rs190548695 0.00009
NM_001023570.4(IQCB1):c.1324G>T (p.Ala442Ser) rs780327292 0.00008
NM_001023570.4(IQCB1):c.68A>G (p.Gln23Arg) rs200205161 0.00008
NM_001128178.3(NPHP1):c.1058G>A (p.Arg353His) rs766289967 0.00008
NM_001128178.3(NPHP1):c.1530-4A>G rs370945279 0.00008
NM_014425.5(INVS):c.2200C>T (p.Arg734Trp) rs370949695 0.00008
NM_014425.5(INVS):c.2335C>T (p.Arg779Trp) rs370643191 0.00008
NM_014425.5(INVS):c.2740C>T (p.Arg914Cys) rs201904771 0.00008
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_153240.5(NPHP3):c.1891G>A (p.Val631Ile) rs765722959 0.00008
NM_153240.5(NPHP3):c.2884-5C>T rs764010022 0.00008
NM_153240.5(NPHP3):c.3592C>T (p.Pro1198Ser) rs550670844 0.00008
NM_153240.5(NPHP3):c.703G>A (p.Gly235Arg) rs368570508 0.00008
NM_153240.5(NPHP3):c.818A>G (p.Asn273Ser) rs538520481 0.00008
NM_001023570.4(IQCB1):c.1335A>T (p.Arg445=) rs772003773 0.00007
NM_001023570.4(IQCB1):c.1727T>C (p.Ile576Thr) rs150073223 0.00007
NM_001023570.4(IQCB1):c.877-10G>A rs371057369 0.00007
NM_001128178.3(NPHP1):c.156A>G (p.Leu52=) rs759699517 0.00007
NM_014425.5(INVS):c.1374C>A (p.Thr458=) rs114912725 0.00007
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_032575.3(GLIS2):c.476C>T (p.Ser159Leu) rs374332556 0.00007
NM_153240.5(NPHP3):c.1533A>T (p.Gln511His) rs368126549 0.00007
NM_153240.5(NPHP3):c.273C>T (p.Tyr91=) rs780683528 0.00007
NM_153240.5(NPHP3):c.2986G>A (p.Val996Met) rs150867534 0.00007
NM_153240.5(NPHP3):c.3330-19T>C rs372840443 0.00007
NM_153240.5(NPHP3):c.957+16A>C rs368705884 0.00007
NM_001023570.4(IQCB1):c.1090C>T (p.Arg364Ter) rs727503968 0.00006
NM_001023570.4(IQCB1):c.1446C>A (p.Leu482=) rs146776796 0.00006
NM_001023570.4(IQCB1):c.1509C>G (p.Ala503=) rs149259534 0.00006
NM_001023570.4(IQCB1):c.1611C>T (p.Leu537=) rs373762948 0.00006
NM_001023570.4(IQCB1):c.1751G>A (p.Ser584Asn) rs762365184 0.00006
NM_001023570.4(IQCB1):c.245A>G (p.Gln82Arg) rs373644565 0.00006
NM_001023570.4(IQCB1):c.986+5A>C rs188368640 0.00006
NM_001128178.3(NPHP1):c.1234A>G (p.Ile412Val) rs958211666 0.00006
NM_001128178.3(NPHP1):c.1761+5A>C rs201030203 0.00006
NM_001128178.3(NPHP1):c.1959C>T (p.Asp653=) rs751440951 0.00006
NM_001128178.3(NPHP1):c.258T>C (p.His86=) rs370355360 0.00006
NM_001128178.3(NPHP1):c.69+20A>G rs199941495 0.00006
NM_001128178.3(NPHP1):c.772-13T>C rs767813102 0.00006
NM_001128178.3(NPHP1):c.805G>A (p.Gly269Arg) rs768608137 0.00006
NM_014425.5(INVS):c.1038G>A (p.Ser346=) rs372355067 0.00006
NM_014425.5(INVS):c.1453del (p.Gln485fs) rs753348470 0.00006
NM_014425.5(INVS):c.1943A>G (p.Asn648Ser) rs116686341 0.00006
NM_014425.5(INVS):c.2444G>A (p.Arg815Gln) rs200477298 0.00006
NM_014425.5(INVS):c.2643T>C (p.Pro881=) rs201128300 0.00006
NM_014425.5(INVS):c.2673T>G (p.Ile891Met) rs775260392 0.00006
NM_014425.5(INVS):c.2720G>A (p.Arg907Gln) rs781064013 0.00006
NM_014425.5(INVS):c.2764G>C (p.Val922Leu) rs375031657 0.00006
NM_014425.5(INVS):c.2919C>A (p.Phe973Leu) rs374199927 0.00006
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.1541C>T (p.Pro514Leu) rs367694436 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.2238C>T (p.Thr746=) rs756449736 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.2849G>A (p.Arg950Gln) rs762546912 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.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_032575.3(GLIS2):c.849C>T (p.His283=) rs200829928 0.00006
NM_032575.3(GLIS2):c.995G>A (p.Arg332His) rs148236093 0.00006
NM_153240.5(NPHP3):c.1240C>G (p.Gln414Glu) rs373255520 0.00006
NM_153240.5(NPHP3):c.141A>T (p.Arg47=) rs774866337 0.00006
NM_153240.5(NPHP3):c.1873A>G (p.Ile625Val) rs745831184 0.00006
NM_153240.5(NPHP3):c.1887+17del rs772091214 0.00006
NM_153240.5(NPHP3):c.1976C>T (p.Pro659Leu) rs147836124 0.00006
NM_153240.5(NPHP3):c.2166C>T (p.Ile722=) rs368406864 0.00006
NM_153240.5(NPHP3):c.2172-12C>T rs886038736 0.00006
NM_153240.5(NPHP3):c.2232T>C (p.Thr744=) rs767339363 0.00006
NM_153240.5(NPHP3):c.2266C>T (p.Arg756Trp) rs183049702 0.00006
NM_153240.5(NPHP3):c.233G>T (p.Gly78Val) rs202142404 0.00006
NM_153240.5(NPHP3):c.255G>A (p.Glu85=) rs146839563 0.00006
NM_153240.5(NPHP3):c.3032C>T (p.Ala1011Val) rs202145723 0.00006
NM_153240.5(NPHP3):c.3062C>T (p.Ala1021Val) rs759153335 0.00006
NM_153240.5(NPHP3):c.332C>T (p.Ser111Phe) rs200233813 0.00006
NM_153240.5(NPHP3):c.3570+17A>G rs377589434 0.00006
NM_153240.5(NPHP3):c.393G>C (p.Gln131His) rs757835884 0.00006
NM_153240.5(NPHP3):c.548T>C (p.Ile183Thr) rs563850993 0.00006
NM_153240.5(NPHP3):c.958-2A>G rs780148543 0.00006
NM_001023570.4(IQCB1):c.1551C>T (p.Asn517=) rs768494533 0.00005
NM_001023570.4(IQCB1):c.876+19A>G rs368053119 0.00005
NM_001128178.3(NPHP1):c.1589G>A (p.Arg530Gln) rs534052463 0.00005
NM_001128178.3(NPHP1):c.1932C>T (p.Gly644=) rs200631256 0.00005
NM_001128178.3(NPHP1):c.558T>G (p.Pro186=) rs372637635 0.00005
NM_001128178.3(NPHP1):c.811A>G (p.Ile271Val) rs750291966 0.00005
NM_014425.5(INVS):c.103G>A (p.Val35Ile) rs368173855 0.00005
NM_014425.5(INVS):c.1373C>G (p.Thr458Ser) rs745648344 0.00005
NM_014425.5(INVS):c.2089A>G (p.Lys697Glu) rs374381370 0.00005
NM_014425.5(INVS):c.274-14T>G rs201366153 0.00005
NM_014425.5(INVS):c.2782C>T (p.Arg928Ter) rs376879175 0.00005
NM_014425.5(INVS):c.2819G>A (p.Arg940Gln) rs369751285 0.00005
NM_014425.5(INVS):c.2907G>A (p.Leu969=) rs148601487 0.00005
NM_014425.5(INVS):c.524T>C (p.Ile175Thr) rs766187142 0.00005
NM_014425.5(INVS):c.800A>G (p.His267Arg) rs747248321 0.00005
NM_014425.5(INVS):c.912G>A (p.Thr304=) rs141109039 0.00005
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.3757C>T (p.Arg1253Trp) rs762195159 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_032575.3(GLIS2):c.1026C>T (p.Pro342=) rs753999588 0.00005
NM_032575.3(GLIS2):c.1129G>A (p.Gly377Ser) rs758967813 0.00005
NM_032575.3(GLIS2):c.1245G>A (p.Pro415=) rs755435780 0.00005
NM_032575.3(GLIS2):c.414C>T (p.Ser138=) rs145025457 0.00005
NM_032575.3(GLIS2):c.789C>T (p.Tyr263=) rs368686815 0.00005
NM_153240.5(NPHP3):c.209T>C (p.Leu70Pro) rs867826443 0.00005
NM_153240.5(NPHP3):c.2342G>A (p.Gly781Asp) rs781180515 0.00005
NM_153240.5(NPHP3):c.2418A>G (p.Leu806=) rs1025642403 0.00005
NM_153240.5(NPHP3):c.3126-4T>A rs746873186 0.00005
NM_153240.5(NPHP3):c.3270T>G (p.Pro1090=) rs139351534 0.00005
NM_153240.5(NPHP3):c.3722T>C (p.Leu1241Ser) rs756330976 0.00005
NM_153240.5(NPHP3):c.894C>T (p.Asn298=) rs988823074 0.00005
NM_001023570.4(IQCB1):c.1093G>A (p.Glu365Lys) rs371844518 0.00004
NM_001023570.4(IQCB1):c.1129+13A>G rs371443898 0.00004
NM_001023570.4(IQCB1):c.1129+17A>G rs747623180 0.00004
NM_001023570.4(IQCB1):c.1151G>A (p.Arg384Gln) rs773223673 0.00004
NM_001023570.4(IQCB1):c.118C>T (p.Pro40Ser) rs750396752 0.00004
NM_001023570.4(IQCB1):c.1278+3G>A rs760377282 0.00004
NM_001023570.4(IQCB1):c.1466G>A (p.Arg489Gln) rs778777318 0.00004
NM_001023570.4(IQCB1):c.1594G>A (p.Gly532Arg) rs149207095 0.00004
NM_001023570.4(IQCB1):c.162T>C (p.Tyr54=) rs149152786 0.00004
NM_001023570.4(IQCB1):c.1657C>T (p.His553Tyr) rs766439338 0.00004
NM_001023570.4(IQCB1):c.348A>G (p.Leu116=) rs139299149 0.00004
NM_001023570.4(IQCB1):c.458T>C (p.Leu153Ser) rs368772723 0.00004
NM_001023570.4(IQCB1):c.482A>G (p.Gln161Arg) rs376700204 0.00004
NM_001128178.3(NPHP1):c.1252A>G (p.Ile418Val) rs577560349 0.00004
NM_001128178.3(NPHP1):c.1353-9C>A rs376436841 0.00004
NM_001128178.3(NPHP1):c.1531C>T (p.Leu511=) rs567306113 0.00004
NM_001128178.3(NPHP1):c.1649T>C (p.Ile550Thr) rs143231282 0.00004
NM_001128178.3(NPHP1):c.1861G>C (p.Glu621Gln) rs780427871 0.00004
NM_001128178.3(NPHP1):c.1960G>A (p.Gly654Arg) rs781531545 0.00004
NM_001128178.3(NPHP1):c.202A>C (p.Lys68Gln) rs748557384 0.00004
NM_001128178.3(NPHP1):c.772-11A>T rs189649819 0.00004
NM_001128178.3(NPHP1):c.800C>T (p.Thr267Met) rs141907218 0.00004
NM_001128178.3(NPHP1):c.903G>A (p.Met301Ile) rs375386218 0.00004
NM_001128178.3(NPHP1):c.912A>G (p.Gln304=) rs794726975 0.00004
NM_001128178.3(NPHP1):c.941C>G (p.Ala314Gly) rs375317119 0.00004
NM_014425.5(INVS):c.1107T>C (p.His369=) rs760637052 0.00004
NM_014425.5(INVS):c.1111A>G (p.Ser371Gly) rs200546215 0.00004
NM_014425.5(INVS):c.1117G>A (p.Val373Met) rs759162487 0.00004
NM_014425.5(INVS):c.1336A>C (p.Lys446Gln) rs370549699 0.00004
NM_014425.5(INVS):c.1465-15T>G rs772436028 0.00004
NM_014425.5(INVS):c.1490G>A (p.Cys497Tyr) rs1296545586 0.00004
NM_014425.5(INVS):c.1653C>T (p.Ile551=) rs781357714 0.00004
NM_014425.5(INVS):c.1727G>A (p.Arg576Gln) rs758506682 0.00004
NM_014425.5(INVS):c.1913G>A (p.Arg638Gln) rs761806481 0.00004
NM_014425.5(INVS):c.2307G>A (p.Pro769=) rs140706545 0.00004
NM_014425.5(INVS):c.2443C>T (p.Arg815Trp) rs564509196 0.00004
NM_014425.5(INVS):c.2453C>T (p.Ala818Val) rs115324411 0.00004
NM_014425.5(INVS):c.286T>C (p.Phe96Leu) rs375188577 0.00004
NM_014425.5(INVS):c.3028G>A (p.Glu1010Lys) rs375774619 0.00004
NM_014425.5(INVS):c.972A>G (p.Thr324=) rs779527994 0.00004
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.274A>G (p.Asn92Asp) rs762383978 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.3231+5G>A rs886046460 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_032575.3(GLIS2):c.1539G>A (p.Pro513=) rs769088578 0.00004
NM_032575.3(GLIS2):c.546G>A (p.Leu182=) rs182526202 0.00004
NM_153240.5(NPHP3):c.1028T>C (p.Ile343Thr) rs145715402 0.00004
NM_153240.5(NPHP3):c.1032T>A (p.Asp344Glu) rs778210113 0.00004
NM_153240.5(NPHP3):c.1083T>C (p.Ser361=) rs781244729 0.00004
NM_153240.5(NPHP3):c.1424A>G (p.Asp475Gly) rs773520877 0.00004
NM_153240.5(NPHP3):c.1476A>T (p.Glu492Asp) rs371254114 0.00004
NM_153240.5(NPHP3):c.1655C>G (p.Pro552Arg) rs375776149 0.00004
NM_153240.5(NPHP3):c.185G>A (p.Arg62His) rs1295666035 0.00004
NM_153240.5(NPHP3):c.1928C>T (p.Pro643Leu) rs760831781 0.00004
NM_153240.5(NPHP3):c.2169G>A (p.Ala723=) rs563403703 0.00004
NM_153240.5(NPHP3):c.2423A>C (p.Lys808Thr) rs763361711 0.00004
NM_153240.5(NPHP3):c.2770G>A (p.Asp924Asn) rs141073933 0.00004
NM_153240.5(NPHP3):c.2817G>A (p.Met939Ile) rs760355143 0.00004
NM_153240.5(NPHP3):c.2851C>T (p.Arg951Ter) rs148670389 0.00004
NM_153240.5(NPHP3):c.3399C>T (p.Asp1133=) rs766231228 0.00004
NM_153240.5(NPHP3):c.3601G>A (p.Glu1201Lys) rs529119466 0.00004
NM_153240.5(NPHP3):c.3609T>C (p.Ala1203=) rs747847543 0.00004
NM_153240.5(NPHP3):c.394-18C>G rs886038737 0.00004
NM_153240.5(NPHP3):c.500A>C (p.Lys167Thr) rs771832737 0.00004
NM_001023570.4(IQCB1):c.1050A>G (p.Leu350=) rs763014533 0.00003
NM_001023570.4(IQCB1):c.1191T>C (p.His397=) rs556134592 0.00003
NM_001023570.4(IQCB1):c.1216A>T (p.Asn406Tyr) rs370477022 0.00003
NM_001023570.4(IQCB1):c.1279G>A (p.Ala427Thr) rs776989189 0.00003
NM_001023570.4(IQCB1):c.1567+3A>G rs1403759372 0.00003
NM_001023570.4(IQCB1):c.1681C>G (p.Gln561Glu) rs750584360 0.00003
NM_001023570.4(IQCB1):c.445C>A (p.Leu149Ile) rs1001594561 0.00003
NM_001023570.4(IQCB1):c.587+11T>G rs571543000 0.00003
NM_001023570.4(IQCB1):c.620T>C (p.Leu207Pro) rs764639627 0.00003
NM_001023570.4(IQCB1):c.62C>T (p.Pro21Leu) rs370459157 0.00003
NM_001023570.4(IQCB1):c.714T>C (p.Ala238=) rs886057828 0.00003
NM_001023570.4(IQCB1):c.730A>G (p.Ile244Val) rs1040002145 0.00003
NM_001023570.4(IQCB1):c.904C>G (p.Gln302Glu) rs756776335 0.00003
NM_001023570.4(IQCB1):c.911A>G (p.Tyr304Cys) rs147164945 0.00003
NM_001128178.3(NPHP1):c.1701G>C (p.Val567=) rs200521790 0.00003
NM_001128178.3(NPHP1):c.1722G>A (p.Ser574=) rs778531895 0.00003
NM_001128178.3(NPHP1):c.1943C>G (p.Ala648Gly) rs779089046 0.00003
NM_001128178.3(NPHP1):c.2010T>C (p.Gly670=) rs759211123 0.00003
NM_001128178.3(NPHP1):c.330-4G>A rs774162169 0.00003
NM_001128178.3(NPHP1):c.426G>T (p.Glu142Asp) rs765568261 0.00003
NM_001128178.3(NPHP1):c.50A>G (p.Asn17Ser) rs200480007 0.00003
NM_001128178.3(NPHP1):c.771+38G>T rs764086072 0.00003
NM_014425.5(INVS):c.1017A>C (p.Arg339Ser) rs201043963 0.00003
NM_014425.5(INVS):c.1059T>G (p.Ala353=) rs764198130 0.00003
NM_014425.5(INVS):c.1065A>C (p.Lys355Asn) rs146667666 0.00003
NM_014425.5(INVS):c.1116C>T (p.Thr372=) rs757492226 0.00003
NM_014425.5(INVS):c.1639G>C (p.Gly547Arg) rs368682890 0.00003
NM_014425.5(INVS):c.1654G>A (p.Ala552Thr) rs748693441 0.00003
NM_014425.5(INVS):c.1815G>C (p.Glu605Asp) rs540466137 0.00003
NM_014425.5(INVS):c.1944C>T (p.Asn648=) rs369319343 0.00003
NM_014425.5(INVS):c.2201G>A (p.Arg734Gln) rs558958395 0.00003
NM_014425.5(INVS):c.2272G>A (p.Glu758Lys) rs767989658 0.00003
NM_014425.5(INVS):c.2337G>C (p.Arg779=) rs779298889 0.00003
NM_014425.5(INVS):c.2604C>T (p.Ser868=) rs751765105 0.00003
NM_014425.5(INVS):c.3153T>C (p.Tyr1051=) rs764214687 0.00003
NM_014425.5(INVS):c.444C>T (p.Asn148=) rs755575787 0.00003
NM_014425.5(INVS):c.595C>A (p.His199Asn) rs751348020 0.00003
NM_014425.5(INVS):c.796+4C>T rs371310920 0.00003
NM_014425.5(INVS):c.817C>T (p.Leu273Phe) rs776929488 0.00003
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.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.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.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.3703C>T (p.Arg1235Cys) rs774386141 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.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_032575.3(GLIS2):c.101G>A (p.Arg34His) rs377037409 0.00003
NM_032575.3(GLIS2):c.1128C>T (p.Pro376=) rs750906253 0.00003
NM_032575.3(GLIS2):c.56C>T (p.Ala19Val) rs560306322 0.00003
NM_032575.3(GLIS2):c.903C>T (p.His301=) rs371341058 0.00003
NM_153240.5(NPHP3):c.1027A>G (p.Ile343Val) rs372145755 0.00003
NM_153240.5(NPHP3):c.1119-12T>C rs753569204 0.00003
NM_153240.5(NPHP3):c.1629-19T>G rs1176486903 0.00003
NM_153240.5(NPHP3):c.1744-7C>G rs758273843 0.00003
NM_153240.5(NPHP3):c.1817G>A (p.Trp606Ter) rs182135982 0.00003
NM_153240.5(NPHP3):c.188G>A (p.Gly63Glu) rs763699273 0.00003
NM_153240.5(NPHP3):c.189G>C (p.Gly63=) rs750280281 0.00003
NM_153240.5(NPHP3):c.1903A>G (p.Met635Val) rs145166784 0.00003
NM_153240.5(NPHP3):c.194G>T (p.Gly65Val) rs763361874 0.00003
NM_153240.5(NPHP3):c.2080A>G (p.Lys694Glu) rs374742856 0.00003
NM_153240.5(NPHP3):c.2170C>T (p.Arg724Cys) rs542131508 0.00003
NM_153240.5(NPHP3):c.2311A>G (p.Ile771Val) rs1011685228 0.00003
NM_153240.5(NPHP3):c.2978G>A (p.Ser993Asn) rs1060503156 0.00003
NM_153240.5(NPHP3):c.3009T>C (p.Asn1003=) rs372990521 0.00003
NM_153240.5(NPHP3):c.3063G>A (p.Ala1021=) rs769832219 0.00003
NM_153240.5(NPHP3):c.3299G>C (p.Gly1100Ala) rs758927671 0.00003
NM_153240.5(NPHP3):c.3339C>A (p.Asp1113Glu) rs768124745 0.00003
NM_153240.5(NPHP3):c.3401G>C (p.Cys1134Ser) rs762890381 0.00003
NM_153240.5(NPHP3):c.3649A>C (p.Ser1217Arg) rs540287231 0.00003
NM_153240.5(NPHP3):c.3901A>C (p.Lys1301Gln) rs769027723 0.00003
NM_153240.5(NPHP3):c.45G>T (p.Val15=) rs768083433 0.00003
NM_001023570.4(IQCB1):c.1003A>G (p.Met335Val) rs143553764 0.00002
NM_001023570.4(IQCB1):c.1046A>G (p.Lys349Arg) rs200158965 0.00002
NM_001023570.4(IQCB1):c.1271A>G (p.Gln424Arg) rs545361604 0.00002
NM_001023570.4(IQCB1):c.1304G>A (p.Arg435His) rs146832128 0.00002
NM_001023570.4(IQCB1):c.1334G>A (p.Arg445Gln) rs377265463 0.00002
NM_001023570.4(IQCB1):c.1367T>G (p.Val456Gly) rs1456257526 0.00002
NM_001023570.4(IQCB1):c.1368T>G (p.Val456=) rs773593065 0.00002
NM_001023570.4(IQCB1):c.1393T>C (p.Tyr465His) rs147708058 0.00002
NM_001023570.4(IQCB1):c.155A>G (p.Asp52Gly) rs763814255 0.00002
NM_001023570.4(IQCB1):c.1567+5del rs1318948819 0.00002
NM_001023570.4(IQCB1):c.1634T>C (p.Val545Ala) rs753029218 0.00002
NM_001023570.4(IQCB1):c.1741G>C (p.Asp581His) rs1283756243 0.00002
NM_001023570.4(IQCB1):c.288A>G (p.Pro96=) rs376703708 0.00002
NM_001023570.4(IQCB1):c.814C>G (p.Gln272Glu) rs760296374 0.00002
NM_001023570.4(IQCB1):c.876+12C>T rs541723424 0.00002
NM_001023570.4(IQCB1):c.877-8C>G rs779916519 0.00002
NM_001023570.4(IQCB1):c.884A>G (p.His295Arg) rs377524012 0.00002
NM_001023570.4(IQCB1):c.987-15C>G rs549731597 0.00002
NM_001128178.3(NPHP1):c.104A>G (p.Glu35Gly) rs368025611 0.00002
NM_001128178.3(NPHP1):c.1083+7T>A rs773132396 0.00002
NM_001128178.3(NPHP1):c.1269+8C>T rs748875496 0.00002
NM_001128178.3(NPHP1):c.1434C>T (p.His478=) rs148809478 0.00002
NM_001128178.3(NPHP1):c.1541A>G (p.Glu514Gly) rs755592231 0.00002
NM_001128178.3(NPHP1):c.1578G>C (p.Leu526Phe) rs376737714 0.00002
NM_001128178.3(NPHP1):c.1588C>T (p.Arg530Ter) rs547352656 0.00002
NM_001128178.3(NPHP1):c.1617A>G (p.Lys539=) rs1266229950 0.00002
NM_001128178.3(NPHP1):c.1643-3C>T rs202167187 0.00002
NM_001128178.3(NPHP1):c.1883G>A (p.Arg628Gln) rs768137941 0.00002
NM_001128178.3(NPHP1):c.1897A>G (p.Thr633Ala) rs764769662 0.00002
NM_001128178.3(NPHP1):c.2018G>A (p.Arg673Lys) rs753549193 0.00002
NM_001128178.3(NPHP1):c.242G>A (p.Arg81Lys) rs762244069 0.00002
NM_001128178.3(NPHP1):c.329+10C>A rs764482387 0.00002
NM_001128178.3(NPHP1):c.385_387del (p.Ser129del) rs753643526 0.00002
NM_001128178.3(NPHP1):c.459C>T (p.Thr153=) rs562594554 0.00002
NM_001128178.3(NPHP1):c.460G>A (p.Gly154Ser) rs769509705 0.00002
NM_001128178.3(NPHP1):c.475G>A (p.Ala159Thr) rs372855293 0.00002
NM_001128178.3(NPHP1):c.690G>A (p.Ala230=) rs775869913 0.00002
NM_001128178.3(NPHP1):c.729-2A>G rs773781058 0.00002
NM_001128178.3(NPHP1):c.871C>T (p.Arg291Ter) rs765263671 0.00002
NM_001128178.3(NPHP1):c.872G>A (p.Arg291Gln) rs751387472 0.00002
NM_014425.5(INVS):c.1079-13G>C rs373264811 0.00002
NM_014425.5(INVS):c.1465-8G>A rs370130702 0.00002
NM_014425.5(INVS):c.1607G>A (p.Arg536His) rs752692382 0.00002
NM_014425.5(INVS):c.166G>A (p.Val56Met) rs778036236 0.00002
NM_014425.5(INVS):c.1995T>C (p.Ser665=) rs762888351 0.00002
NM_014425.5(INVS):c.2001C>T (p.Gly667=) rs536554704 0.00002
NM_014425.5(INVS):c.2009T>C (p.Leu670Pro) rs762112247 0.00002
NM_014425.5(INVS):c.2068+2T>C rs777556837 0.00002
NM_014425.5(INVS):c.2204G>A (p.Cys735Tyr) rs375485537 0.00002
NM_014425.5(INVS):c.2247G>A (p.Arg749=) rs769950635 0.00002
NM_014425.5(INVS):c.2263G>A (p.Glu755Lys) rs774692372 0.00002
NM_014425.5(INVS):c.2285G>A (p.Arg762Gln) rs753540322 0.00002
NM_014425.5(INVS):c.2696G>A (p.Arg899Gln) rs142177132 0.00002
NM_014425.5(INVS):c.2760A>G (p.Ala920=) rs745573372 0.00002
NM_014425.5(INVS):c.2774G>A (p.Arg925His) rs370713515 0.00002
NM_014425.5(INVS):c.2959T>C (p.Ser987Pro) rs779291688 0.00002
NM_014425.5(INVS):c.3079C>T (p.Arg1027Cys) rs771248759 0.00002
NM_014425.5(INVS):c.3080G>A (p.Arg1027His) rs774849762 0.00002
NM_014425.5(INVS):c.3103C>G (p.Gln1035Glu) rs776279048 0.00002
NM_014425.5(INVS):c.3106T>C (p.Cys1036Arg) rs1444531400 0.00002
NM_014425.5(INVS):c.337G>A (p.Glu113Lys) rs747572974 0.00002
NM_014425.5(INVS):c.515A>G (p.Asp172Gly) rs377683634 0.00002
NM_014425.5(INVS):c.815A>C (p.His272Pro) rs151080341 0.00002
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_032575.3(GLIS2):c.100C>T (p.Arg34Cys) rs369113794 0.00002
NM_032575.3(GLIS2):c.1559C>T (p.Pro520Leu) rs144263133 0.00002
NM_032575.3(GLIS2):c.1564G>A (p.Val522Met) rs901123781 0.00002
NM_032575.3(GLIS2):c.164C>T (p.Pro55Leu) rs775844299 0.00002
NM_032575.3(GLIS2):c.790G>A (p.Val264Ile) rs372331480 0.00002
NM_153240.5(NPHP3):c.1141G>A (p.Glu381Lys) rs748615630 0.00002
NM_153240.5(NPHP3):c.1308A>G (p.Gly436=) rs777911324 0.00002
NM_153240.5(NPHP3):c.1357C>T (p.Leu453=) rs535110862 0.00002
NM_153240.5(NPHP3):c.1381G>T (p.Glu461Ter) rs119456961 0.00002
NM_153240.5(NPHP3):c.155C>A (p.Ala52Glu) rs747055547 0.00002
NM_153240.5(NPHP3):c.1579C>T (p.Leu527Phe) rs772703797 0.00002
NM_153240.5(NPHP3):c.1714T>G (p.Ser572Ala) rs781274734 0.00002
NM_153240.5(NPHP3):c.1743+6G>A rs761386522 0.00002
NM_153240.5(NPHP3):c.1986-7A>G rs373733344 0.00002
NM_153240.5(NPHP3):c.2041A>G (p.Ile681Val) rs1218293876 0.00002
NM_153240.5(NPHP3):c.2109C>G (p.His703Gln) rs765177103 0.00002
NM_153240.5(NPHP3):c.2112T>C (p.Cys704=) rs761833505 0.00002
NM_153240.5(NPHP3):c.215C>T (p.Ala72Val) rs762186797 0.00002
NM_153240.5(NPHP3):c.2167G>A (p.Ala723Thr) rs770302939 0.00002
NM_153240.5(NPHP3):c.2171+8G>A rs147825615 0.00002
NM_153240.5(NPHP3):c.2190T>C (p.Asn730=) rs780587933 0.00002
NM_153240.5(NPHP3):c.2369T>C (p.Leu790Pro) rs398124546 0.00002
NM_153240.5(NPHP3):c.2475+3A>G rs201981598 0.00002
NM_153240.5(NPHP3):c.2563C>T (p.Gln855Ter) rs201237799 0.00002
NM_153240.5(NPHP3):c.2570+1G>T rs1322038132 0.00002
NM_153240.5(NPHP3):c.2752A>G (p.Met918Val) rs140594430 0.00002
NM_153240.5(NPHP3):c.2810A>G (p.Asp937Gly) rs1231984938 0.00002
NM_153240.5(NPHP3):c.284G>A (p.Arg95Lys) rs1007066273 0.00002
NM_153240.5(NPHP3):c.2985C>T (p.Tyr995=) rs777768843 0.00002
NM_153240.5(NPHP3):c.3039A>C (p.Glu1013Asp) rs941727035 0.00002
NM_153240.5(NPHP3):c.308T>C (p.Val103Ala) rs764479243 0.00002
NM_153240.5(NPHP3):c.3205G>A (p.Gly1069Arg) rs752118322 0.00002
NM_153240.5(NPHP3):c.3212C>T (p.Ala1071Val) rs374241338 0.00002
NM_153240.5(NPHP3):c.3311A>G (p.Tyr1104Cys) rs571618016 0.00002
NM_153240.5(NPHP3):c.3374G>A (p.Arg1125Gln) rs767752387 0.00002
NM_153240.5(NPHP3):c.3429T>G (p.Ala1143=) rs772904943 0.00002
NM_153240.5(NPHP3):c.3521C>T (p.Pro1174Leu) rs1411458250 0.00002
NM_153240.5(NPHP3):c.3775C>T (p.Arg1259Ter) rs758716466 0.00002
NM_153240.5(NPHP3):c.3813-10T>C rs372263313 0.00002
NM_153240.5(NPHP3):c.384C>G (p.Ala128=) rs201425936 0.00002
NM_153240.5(NPHP3):c.3898G>A (p.Gly1300Arg) rs774681590 0.00002
NM_153240.5(NPHP3):c.3907C>T (p.Pro1303Ser) rs373728120 0.00002
NM_153240.5(NPHP3):c.393+1G>C rs754332448 0.00002
NM_153240.5(NPHP3):c.469del (p.Arg157fs) rs773760404 0.00002
NM_153240.5(NPHP3):c.671-18A>G rs776019324 0.00002
NM_153240.5(NPHP3):c.722C>G (p.Pro241Arg) rs142933414 0.00002
NM_153240.5(NPHP3):c.978G>A (p.Lys326=) rs759490137 0.00002
NM_001023570.4(IQCB1):c.101-9T>A rs753647177 0.00001
NM_001023570.4(IQCB1):c.1036G>T (p.Glu346Ter) rs387907009 0.00001
NM_001023570.4(IQCB1):c.1040A>T (p.Asp347Val) rs1362995395 0.00001
NM_001023570.4(IQCB1):c.1150C>T (p.Arg384Trp) rs760548277 0.00001
NM_001023570.4(IQCB1):c.1269T>G (p.Leu423=) rs765566806 0.00001
NM_001023570.4(IQCB1):c.1278+9A>G rs774535665 0.00001
NM_001023570.4(IQCB1):c.1279-16A>G rs754160972 0.00001
NM_001023570.4(IQCB1):c.1287A>G (p.Lys429=) rs776326876 0.00001
NM_001023570.4(IQCB1):c.1295C>T (p.Ala432Val) rs150129899 0.00001
NM_001023570.4(IQCB1):c.1333C>T (p.Arg445Ter) rs867772426 0.00001
NM_001023570.4(IQCB1):c.1344A>G (p.Gln448=) rs886057824 0.00001
NM_001023570.4(IQCB1):c.1364G>A (p.Arg455Gln) rs766072332 0.00001
NM_001023570.4(IQCB1):c.1406A>G (p.His469Arg) rs898997712 0.00001
NM_001023570.4(IQCB1):c.1411-4C>T rs1220175972 0.00001
NM_001023570.4(IQCB1):c.1420A>G (p.Met474Val) rs764720012 0.00001
NM_001023570.4(IQCB1):c.1447C>G (p.His483Asp) rs746090954 0.00001
NM_001023570.4(IQCB1):c.1465C>T (p.Arg489Ter) rs373909351 0.00001
NM_001023570.4(IQCB1):c.1470G>C (p.Leu490=) rs754875338 0.00001
NM_001023570.4(IQCB1):c.1504C>T (p.Arg502Ter) rs1280238814 0.00001
NM_001023570.4(IQCB1):c.1505G>A (p.Arg502Gln) rs200367729 0.00001
NM_001023570.4(IQCB1):c.1550A>G (p.Asn517Ser) rs774106373 0.00001
NM_001023570.4(IQCB1):c.1552G>A (p.Val518Ile) rs1484442908 0.00001
NM_001023570.4(IQCB1):c.1558C>T (p.Gln520Ter) rs779858591 0.00001
NM_001023570.4(IQCB1):c.1568-10T>C rs762667783 0.00001
NM_001023570.4(IQCB1):c.1573C>A (p.Pro525Thr) rs1445502603 0.00001
NM_001023570.4(IQCB1):c.1576A>C (p.Ser526Arg) rs1390983530 0.00001
NM_001023570.4(IQCB1):c.157A>G (p.Ile53Val) rs542335278 0.00001
NM_001023570.4(IQCB1):c.1632_1638dup (p.Ala547fs) rs767295178 0.00001
NM_001023570.4(IQCB1):c.1656C>G (p.Ala552=) rs1399676175 0.00001
NM_001023570.4(IQCB1):c.180A>G (p.Gln60=) rs1489496240 0.00001
NM_001023570.4(IQCB1):c.215G>A (p.Arg72Gln) rs777328728 0.00001
NM_001023570.4(IQCB1):c.252A>G (p.Thr84=) rs200461388 0.00001
NM_001023570.4(IQCB1):c.259T>C (p.Leu87=) rs750343777 0.00001
NM_001023570.4(IQCB1):c.263+18G>A rs201677425 0.00001
NM_001023570.4(IQCB1):c.272G>A (p.Cys91Tyr) rs370233738 0.00001
NM_001023570.4(IQCB1):c.281T>G (p.Leu94Trp) rs1482031301 0.00001
NM_001023570.4(IQCB1):c.31T>C (p.Leu11=) rs1413516964 0.00001
NM_001023570.4(IQCB1):c.369A>C (p.Gln123His) rs970350621 0.00001
NM_001023570.4(IQCB1):c.393+1G>C rs1226321871 0.00001
NM_001023570.4(IQCB1):c.446T>C (p.Leu149Pro) rs1949717977 0.00001
NM_001023570.4(IQCB1):c.488-1G>A rs779696701 0.00001
NM_001023570.4(IQCB1):c.488-7C>G rs748749379 0.00001
NM_001023570.4(IQCB1):c.514T>A (p.Leu172Ile) rs139516260 0.00001
NM_001023570.4(IQCB1):c.532G>A (p.Val178Ile) rs1272185942 0.00001
NM_001023570.4(IQCB1):c.539T>C (p.Ile180Thr) rs1336635253 0.00001
NM_001023570.4(IQCB1):c.588-2A>G rs1250919247 0.00001
NM_001023570.4(IQCB1):c.622T>C (p.Tyr208His) rs1373905023 0.00001
NM_001023570.4(IQCB1):c.636T>G (p.Asp212Glu) rs202164315 0.00001
NM_001023570.4(IQCB1):c.692C>T (p.Thr231Ile) rs1278873318 0.00001
NM_001023570.4(IQCB1):c.693A>G (p.Thr231=) rs750700698 0.00001
NM_001023570.4(IQCB1):c.761A>G (p.Tyr254Cys) rs1484417223 0.00001
NM_001023570.4(IQCB1):c.766+5T>C rs941589350 0.00001
NM_001023570.4(IQCB1):c.767-9C>A rs758067297 0.00001
NM_001023570.4(IQCB1):c.776G>A (p.Arg259His) rs374034270 0.00001
NM_001023570.4(IQCB1):c.846C>T (p.Ser282=) rs943151135 0.00001
NM_001023570.4(IQCB1):c.850A>G (p.Met284Val) rs148569732 0.00001
NM_001023570.4(IQCB1):c.853G>T (p.Val285Phe) rs1467393686 0.00001
NM_001023570.4(IQCB1):c.86T>C (p.Leu29Pro) rs760120237 0.00001
NM_001023570.4(IQCB1):c.877-17T>C rs778033432 0.00001
NM_001023570.4(IQCB1):c.880C>G (p.Leu294Val) rs756107852 0.00001
NM_001023570.4(IQCB1):c.894A>G (p.Ala298=) rs1216152770 0.00001
NM_001023570.4(IQCB1):c.90G>C (p.Leu30Phe) rs1246747991 0.00001
NM_001023570.4(IQCB1):c.930A>G (p.Thr310=) rs373066414 0.00001
NM_001023570.4(IQCB1):c.952C>G (p.Pro318Ala) rs749043070 0.00001
NM_001023570.4(IQCB1):c.980G>A (p.Ser327Asn) rs377493667 0.00001
NM_001023570.4(IQCB1):c.986+14G>T rs1163027442 0.00001
NM_001023570.4(IQCB1):c.994C>T (p.Arg332Ter) rs1189889920 0.00001
NM_001128178.3(NPHP1):c.1009A>C (p.Met337Leu) rs780706360 0.00001
NM_001128178.3(NPHP1):c.1016C>G (p.Pro339Arg) rs746482479 0.00001
NM_001128178.3(NPHP1):c.1018C>T (p.Leu340Phe) rs777385746 0.00001
NM_001128178.3(NPHP1):c.102A>G (p.Lys34=) rs763004817 0.00001
NM_001128178.3(NPHP1):c.1083+20A>C rs767659244 0.00001
NM_001128178.3(NPHP1):c.1103C>T (p.Thr368Ile) rs778528184 0.00001
NM_001128178.3(NPHP1):c.1162A>G (p.Thr388Ala) rs755943785 0.00001
NM_001128178.3(NPHP1):c.1186G>C (p.Asp396His) rs1285357819 0.00001
NM_001128178.3(NPHP1):c.1270-1G>A rs376492641 0.00001
NM_001128178.3(NPHP1):c.1270-20A>G rs754198831 0.00001
NM_001128178.3(NPHP1):c.1352+1del rs747861275 0.00001
NM_001128178.3(NPHP1):c.1390G>T (p.Glu464Ter) rs764740388 0.00001
NM_001128178.3(NPHP1):c.1392A>G (p.Glu464=) rs369856527 0.00001
NM_001128178.3(NPHP1):c.1402G>A (p.Glu468Lys) rs1186755904 0.00001
NM_001128178.3(NPHP1):c.1422C>T (p.Ser474=) rs1160667484 0.00001
NM_001128178.3(NPHP1):c.143+1G>C rs745806504 0.00001
NM_001128178.3(NPHP1):c.1435G>A (p.Gly479Ser) rs774251781 0.00001
NM_001128178.3(NPHP1):c.1436G>A (p.Gly479Asp) rs960255611 0.00001
NM_001128178.3(NPHP1):c.1448A>G (p.Tyr483Cys) rs1283995363 0.00001
NM_001128178.3(NPHP1):c.1456A>G (p.Met486Val) rs1054886885 0.00001
NM_001128178.3(NPHP1):c.1520A>G (p.Asn507Ser) rs35638834 0.00001
NM_001128178.3(NPHP1):c.1523T>G (p.Val508Gly) rs951115963 0.00001
NM_001128178.3(NPHP1):c.1529+20T>G rs1311670481 0.00001
NM_001128178.3(NPHP1):c.1545A>G (p.Thr515=) rs1199701715 0.00001
NM_001128178.3(NPHP1):c.1558A>G (p.Met520Val) rs141786398 0.00001
NM_001128178.3(NPHP1):c.1565C>T (p.Ser522Phe) rs756812918 0.00001
NM_001128178.3(NPHP1):c.1597C>A (p.Leu533Ile) rs776530596 0.00001
NM_001128178.3(NPHP1):c.1643-8C>A rs1328392742 0.00001
NM_001128178.3(NPHP1):c.1663C>G (p.Leu555Val) rs770266229 0.00001
NM_001128178.3(NPHP1):c.1693C>A (p.Pro565Thr) rs147090619 0.00001
NM_001128178.3(NPHP1):c.1706A>T (p.Asp569Val) rs778619698 0.00001
NM_001128178.3(NPHP1):c.1716+15T>C rs368590150 0.00001
NM_001128178.3(NPHP1):c.1716+1G>T rs1233478832 0.00001
NM_001128178.3(NPHP1):c.1739G>A (p.Ser580Asn) rs1408406395 0.00001
NM_001128178.3(NPHP1):c.175A>C (p.Asn59His) rs1215401547 0.00001
NM_001128178.3(NPHP1):c.1765G>A (p.Asp589Asn) rs896252440 0.00001
NM_001128178.3(NPHP1):c.1813G>A (p.Val605Met) rs770956057 0.00001
NM_001128178.3(NPHP1):c.1837C>T (p.Arg613Cys) rs543675502 0.00001
NM_001128178.3(NPHP1):c.1857G>A (p.Trp619Ter) rs1473345628 0.00001
NM_001128178.3(NPHP1):c.1867G>C (p.Glu623Gln) rs1418617951 0.00001
NM_001128178.3(NPHP1):c.1886G>A (p.Trp629Ter) rs1311042980 0.00001
NM_001128178.3(NPHP1):c.1895T>C (p.Ile632Thr) rs1212945698 0.00001
NM_001128178.3(NPHP1):c.192A>G (p.Gln64=) rs772522565 0.00001
NM_001128178.3(NPHP1):c.223G>C (p.Val75Leu) rs760772706 0.00001
NM_001128178.3(NPHP1):c.240G>A (p.Gln80=) rs767719020 0.00001
NM_001128178.3(NPHP1):c.288G>T (p.Leu96=) rs758059337 0.00001
NM_001128178.3(NPHP1):c.294C>T (p.Gly98=) rs747950591 0.00001
NM_001128178.3(NPHP1):c.325_329+7del rs1683656584 0.00001
NM_001128178.3(NPHP1):c.329+1G>A rs376974221 0.00001
NM_001128178.3(NPHP1):c.330-9T>G rs748197517 0.00001
NM_001128178.3(NPHP1):c.345T>A (p.Thr115=) rs998559099 0.00001
NM_001128178.3(NPHP1):c.356A>G (p.Glu119Gly) rs745835094 0.00001
NM_001128178.3(NPHP1):c.368G>A (p.Ser123Asn) rs781291281 0.00001
NM_001128178.3(NPHP1):c.415G>T (p.Glu139Ter) rs1349732291 0.00001
NM_001128178.3(NPHP1):c.438T>C (p.Asn146=) rs548684868 0.00001
NM_001128178.3(NPHP1):c.456A>G (p.Ser152=) rs143163969 0.00001
NM_001128178.3(NPHP1):c.472A>G (p.Ile158Val) rs745768183 0.00001
NM_001128178.3(NPHP1):c.474C>T (p.Ile158=) rs1253817401 0.00001
NM_001128178.3(NPHP1):c.522+11T>G rs374090144 0.00001
NM_001128178.3(NPHP1):c.529G>A (p.Glu177Lys) rs772166657 0.00001
NM_001128178.3(NPHP1):c.604G>C (p.Val202Leu) rs753605280 0.00001
NM_001128178.3(NPHP1):c.643G>T (p.Glu215Ter) rs753517219 0.00001
NM_001128178.3(NPHP1):c.651A>G (p.Gln217=) rs201107818 0.00001
NM_001128178.3(NPHP1):c.693G>A (p.Val231=) rs746229585 0.00001
NM_001128178.3(NPHP1):c.729-19T>C rs374563008 0.00001
NM_001128178.3(NPHP1):c.771+137G>A rs779083426 0.00001
NM_001128178.3(NPHP1):c.771+139A>G rs1345383804 0.00001
NM_001128178.3(NPHP1):c.771+175T>C rs905647921 0.00001
NM_001128178.3(NPHP1):c.771+18T>A rs1446639138 0.00001
NM_001128178.3(NPHP1):c.771+3G>A rs1365022834 0.00001
NM_001128178.3(NPHP1):c.771+78G>A rs762350912 0.00001
NM_001128178.3(NPHP1):c.771+90T>C rs145349438 0.00001
NM_001128178.3(NPHP1):c.783T>G (p.Thr261=) rs148014935 0.00001
NM_001128178.3(NPHP1):c.817G>A (p.Ala273Thr) rs751003854 0.00001
NM_001128178.3(NPHP1):c.859+5T>C rs374379957 0.00001
NM_001128178.3(NPHP1):c.875C>T (p.Ala292Val) rs1179796852 0.00001
NM_001128178.3(NPHP1):c.922A>G (p.Arg308Gly) rs1404351082 0.00001
NM_001128178.3(NPHP1):c.949G>A (p.Gly317Ser) rs1212929849 0.00001
NM_001128178.3(NPHP1):c.963G>A (p.Ser321=) rs533125951 0.00001
NM_001128178.3(NPHP1):c.973C>T (p.Arg325Cys) rs748435719 0.00001
NM_001128178.3(NPHP1):c.974G>A (p.Arg325His) rs779098996 0.00001
NM_014425.5(INVS):c.1016G>A (p.Arg339Lys) rs768193321 0.00001
NM_014425.5(INVS):c.1024C>T (p.Leu342=) rs761575712 0.00001
NM_014425.5(INVS):c.1048A>G (p.Ile350Val) rs767638762 0.00001
NM_014425.5(INVS):c.1056G>C (p.Met352Ile) rs752714293 0.00001
NM_014425.5(INVS):c.1078+1G>A rs375416014 0.00001
NM_014425.5(INVS):c.1079-7C>T rs1185982706 0.00001
NM_014425.5(INVS):c.10T>G (p.Ser4Ala) rs1827109569 0.00001
NM_014425.5(INVS):c.1104C>T (p.Gly368=) rs775686671 0.00001
NM_014425.5(INVS):c.1177C>G (p.Pro393Ala) rs1441776664 0.00001
NM_014425.5(INVS):c.1186C>T (p.Arg396Ter) rs773049314 0.00001
NM_014425.5(INVS):c.1235-18A>G rs1438355327 0.00001
NM_014425.5(INVS):c.1256T>C (p.Val419Ala) rs1212072950 0.00001
NM_014425.5(INVS):c.1317C>T (p.Cys439=) rs886063266 0.00001
NM_014425.5(INVS):c.1361A>C (p.Tyr454Ser) rs756863097 0.00001
NM_014425.5(INVS):c.1379T>G (p.Leu460Trp) rs878854980 0.00001
NM_014425.5(INVS):c.1387G>A (p.Ala463Thr) rs770018625 0.00001
NM_014425.5(INVS):c.1436A>G (p.Asn479Ser) rs773285164 0.00001
NM_014425.5(INVS):c.1482T>C (p.His494=) rs577839314 0.00001
NM_014425.5(INVS):c.1484G>A (p.Trp495Ter) rs149055711 0.00001
NM_014425.5(INVS):c.154C>T (p.Leu52Phe) rs758283111 0.00001
NM_014425.5(INVS):c.1572A>G (p.Arg524=) rs187927206 0.00001
NM_014425.5(INVS):c.1595T>C (p.Leu532Ser) rs1446860684 0.00001
NM_014425.5(INVS):c.1606C>T (p.Arg536Cys) rs1228736160 0.00001
NM_014425.5(INVS):c.1633G>C (p.Glu545Gln) rs1832999935 0.00001
NM_014425.5(INVS):c.1671C>T (p.Ile557=) rs770524429 0.00001
NM_014425.5(INVS):c.1686C>G (p.Ile562Met) rs767346175 0.00001
NM_014425.5(INVS):c.1784+7A>T rs1036479094 0.00001
NM_014425.5(INVS):c.1789C>T (p.Arg597Ter) rs755288504 0.00001
NM_014425.5(INVS):c.1790G>T (p.Arg597Leu) rs1291135236 0.00001
NM_014425.5(INVS):c.1797A>G (p.Glu599=) rs1192378189 0.00001
NM_014425.5(INVS):c.1807C>T (p.Arg603Ter) rs121964994 0.00001
NM_014425.5(INVS):c.1976G>A (p.Arg659Lys) rs201738845 0.00001
NM_014425.5(INVS):c.1978G>A (p.Gly660Arg) rs1833374932 0.00001
NM_014425.5(INVS):c.1980A>G (p.Gly660=) rs139314036 0.00001
NM_014425.5(INVS):c.1992G>A (p.Gly664=) rs769810980 0.00001
NM_014425.5(INVS):c.2021A>G (p.Gln674Arg) rs750909979 0.00001
NM_014425.5(INVS):c.2031C>T (p.Ser677=) rs756240366 0.00001
NM_014425.5(INVS):c.2035G>T (p.Asp679Tyr) rs751056550 0.00001
NM_014425.5(INVS):c.2062C>T (p.Pro688Ser) rs769487492 0.00001
NM_014425.5(INVS):c.2156T>C (p.Val719Ala) rs1379171622 0.00001
NM_014425.5(INVS):c.2189C>T (p.Ala730Val) rs763766362 0.00001
NM_014425.5(INVS):c.2224G>A (p.Val742Met) rs115598824 0.00001
NM_014425.5(INVS):c.2260G>A (p.Asp754Asn) rs115401137 0.00001
NM_014425.5(INVS):c.2279C>T (p.Ser760Phe) rs1324519096 0.00001
NM_014425.5(INVS):c.2284C>T (p.Arg762Trp) rs763460118 0.00001
NM_014425.5(INVS):c.2336G>A (p.Arg779Gln) rs771128055 0.00001
NM_014425.5(INVS):c.2380C>T (p.Arg794Cys) rs556807161 0.00001
NM_014425.5(INVS):c.2381G>A (p.Arg794His) rs766040970 0.00001
NM_014425.5(INVS):c.2394C>G (p.Leu798=) rs751531097 0.00001
NM_014425.5(INVS):c.2417C>T (p.Ala806Val) rs201824415 0.00001
NM_014425.5(INVS):c.2428C>T (p.Arg810Cys) rs984016152 0.00001
NM_014425.5(INVS):c.2468A>G (p.Gln823Arg) rs752586599 0.00001
NM_014425.5(INVS):c.2485C>T (p.Arg829Cys) rs780527510 0.00001
NM_014425.5(INVS):c.2519T>C (p.Leu840Pro) rs772783995 0.00001
NM_014425.5(INVS):c.2539C>T (p.His847Tyr) rs1041470924 0.00001
NM_014425.5(INVS):c.2603C>T (p.Ser868Phe) rs1300344847 0.00001
NM_014425.5(INVS):c.2714G>A (p.Arg905Lys) rs753100317 0.00001
NM_014425.5(INVS):c.2783G>A (p.Arg928Gln) rs376463532 0.00001
NM_014425.5(INVS):c.2786+18T>C rs1362322226 0.00001
NM_014425.5(INVS):c.2786+1G>A rs935629850 0.00001
NM_014425.5(INVS):c.27T>C (p.Phe9=) rs777589570 0.00001
NM_014425.5(INVS):c.283C>T (p.Arg95Cys) rs1189239222 0.00001
NM_014425.5(INVS):c.2847T>C (p.Asp949=) rs144478818 0.00001
NM_014425.5(INVS):c.2850G>T (p.Val950=) rs765818859 0.00001
NM_014425.5(INVS):c.2851G>A (p.Asp951Asn) rs1833809920 0.00001
NM_014425.5(INVS):c.2888A>T (p.Gln963Leu) rs996350769 0.00001
NM_014425.5(INVS):c.3016+13C>A rs767170405 0.00001
NM_014425.5(INVS):c.3016+5C>T rs142606077 0.00001
NM_014425.5(INVS):c.3017-18del rs761040482 0.00001
NM_014425.5(INVS):c.301C>T (p.Leu101Phe) rs757623556 0.00001
NM_014425.5(INVS):c.3027C>T (p.His1009=) rs201136636 0.00001
NM_014425.5(INVS):c.3068C>T (p.Ser1023Phe) rs769993446 0.00001
NM_014425.5(INVS):c.3071C>T (p.Ser1024Phe) rs778164167 0.00001
NM_014425.5(INVS):c.3149C>T (p.Ser1050Phe) rs969660773 0.00001
NM_014425.5(INVS):c.3184A>G (p.Lys1062Glu) rs750609488 0.00001
NM_014425.5(INVS):c.319T>G (p.Trp107Gly) rs1831309953 0.00001
NM_014425.5(INVS):c.33T>C (p.Gly11=) rs1554713054 0.00001
NM_014425.5(INVS):c.349C>G (p.Pro117Ala) rs1021818693 0.00001
NM_014425.5(INVS):c.368G>A (p.Arg123Gln) rs757534991 0.00001
NM_014425.5(INVS):c.433C>A (p.Gln145Lys) rs745703727 0.00001
NM_014425.5(INVS):c.464G>A (p.Trp155Ter) rs1007394906 0.00001
NM_014425.5(INVS):c.48A>G (p.Ser16=) rs1827110732 0.00001
NM_014425.5(INVS):c.500T>C (p.Leu167Pro) rs374420212 0.00001
NM_014425.5(INVS):c.501G>A (p.Leu167=) rs767884283 0.00001
NM_014425.5(INVS):c.538G>A (p.Val180Ile) rs1206727122 0.00001
NM_014425.5(INVS):c.572A>G (p.Asn191Ser) rs1831448800 0.00001
NM_014425.5(INVS):c.590C>G (p.Ala197Gly) rs774469922 0.00001
NM_014425.5(INVS):c.625C>T (p.Pro209Ser) rs144729900 0.00001
NM_014425.5(INVS):c.646T>G (p.Trp216Gly) rs1446856893 0.00001
NM_014425.5(INVS):c.657C>T (p.Tyr219=) rs1424949239 0.00001
NM_014425.5(INVS):c.658G>A (p.Glu220Lys) rs759684253 0.00001
NM_014425.5(INVS):c.66C>T (p.Ala22=) rs1419957613 0.00001
NM_014425.5(INVS):c.727T>C (p.Tyr243His) rs1206942379 0.00001
NM_014425.5(INVS):c.747G>A (p.Thr249=) rs570134046 0.00001
NM_014425.5(INVS):c.796+5G>A rs1272619479 0.00001
NM_014425.5(INVS):c.819C>G (p.Leu273=) rs1448130159 0.00001
NM_014425.5(INVS):c.833A>G (p.Asn278Ser) rs1831914143 0.00001
NM_014425.5(INVS):c.867A>C (p.Gly289=) rs1227795087 0.00001
NM_014425.5(INVS):c.890C>T (p.Ala297Val) rs759327541 0.00001
NM_014425.5(INVS):c.900C>T (p.Asn300=) rs752481190 0.00001
NM_014425.5(INVS):c.907-4A>C rs765148031 0.00001
NM_014425.5(INVS):c.907-7C>G rs1299007196 0.00001
NM_014425.5(INVS):c.938C>T (p.Ser313Leu) rs756222867 0.00001
NM_014425.5(INVS):c.978T>G (p.Phe326Leu) rs1457973181 0.00001
NM_014425.5(INVS):c.986C>T (p.Ala329Val) rs1202806202 0.00001
NM_014425.5(INVS):c.997G>T (p.Gly333Cys) rs746333759 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.1050C>T (p.Gly350=) rs1367350631 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.1430C>T (p.Thr477Met) rs886043364 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.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.3927C>T (p.Asp1309=) rs377183096 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
NM_032575.3(GLIS2):c.1033G>A (p.Gly345Ser) rs746233571 0.00001
NM_032575.3(GLIS2):c.1388C>T (p.Thr463Met) rs373198635 0.00001
NM_032575.3(GLIS2):c.18G>A (p.Glu6=) rs759679058 0.00001
NM_032575.3(GLIS2):c.346-9G>A rs565376002 0.00001
NM_032575.3(GLIS2):c.588C>T (p.Pro196=) rs766508781 0.00001
NM_032575.3(GLIS2):c.657-16G>A rs1011610705 0.00001
NM_032575.3(GLIS2):c.996C>T (p.Arg332=) rs1156423542 0.00001
NM_153240.5(NPHP3):c.1091T>C (p.Ile364Thr) rs1186561814 0.00001
NM_153240.5(NPHP3):c.1118+7T>C rs755103165 0.00001
NM_153240.5(NPHP3):c.116G>T (p.Arg39Leu) rs753467164 0.00001
NM_153240.5(NPHP3):c.1174C>T (p.Arg392Ter) rs1485445500 0.00001
NM_153240.5(NPHP3):c.1190G>A (p.Arg397His) rs755094682 0.00001
NM_153240.5(NPHP3):c.1245T>G (p.Val415=) rs772276779 0.00001
NM_153240.5(NPHP3):c.1288T>G (p.Ser430Ala) rs151118635 0.00001
NM_153240.5(NPHP3):c.1294G>A (p.Asp432Asn) rs947907684 0.00001
NM_153240.5(NPHP3):c.1311A>G (p.Val437=) rs1393593329 0.00001
NM_153240.5(NPHP3):c.1351-6G>A rs758073939 0.00001
NM_153240.5(NPHP3):c.1396G>A (p.Gly466Ser) rs1241694746 0.00001
NM_153240.5(NPHP3):c.1399A>G (p.Ser467Gly) rs751944855 0.00001
NM_153240.5(NPHP3):c.1404G>A (p.Glu468=) rs770200607 0.00001
NM_153240.5(NPHP3):c.1411A>G (p.Ile471Val) rs200659972 0.00001
NM_153240.5(NPHP3):c.1425T>C (p.Asp475=) rs369725128 0.00001
NM_153240.5(NPHP3):c.146C>T (p.Ala49Val) rs763420553 0.00001
NM_153240.5(NPHP3):c.1513G>A (p.Gly505Arg) rs375225209 0.00001
NM_153240.5(NPHP3):c.1514G>A (p.Gly505Glu) rs368008794 0.00001
NM_153240.5(NPHP3):c.1521G>A (p.Glu507=) rs762044969 0.00001
NM_153240.5(NPHP3):c.1537C>T (p.Leu513Phe) rs1250547107 0.00001
NM_153240.5(NPHP3):c.1581C>T (p.Leu527=) rs183241346 0.00001
NM_153240.5(NPHP3):c.158C>G (p.Ala53Gly) rs538317431 0.00001
NM_153240.5(NPHP3):c.1618T>C (p.Leu540=) rs1346281529 0.00001
NM_153240.5(NPHP3):c.1620A>G (p.Leu540=) rs772704156 0.00001
NM_153240.5(NPHP3):c.1629-17_1629-13del rs1197764455 0.00001
NM_153240.5(NPHP3):c.1654C>A (p.Pro552Thr) rs776287337 0.00001
NM_153240.5(NPHP3):c.1658A>G (p.Asn553Ser) rs373846495 0.00001
NM_153240.5(NPHP3):c.1690C>T (p.Pro564Ser) rs749602646 0.00001
NM_153240.5(NPHP3):c.1692C>T (p.Pro564=) rs1448083146 0.00001
NM_153240.5(NPHP3):c.1712C>T (p.Ser571Phe) rs748309289 0.00001
NM_153240.5(NPHP3):c.1729C>T (p.Arg577Ter) rs119456962 0.00001
NM_153240.5(NPHP3):c.1738C>G (p.Leu580Val) rs1399616263 0.00001
NM_153240.5(NPHP3):c.1747A>T (p.Met583Leu) rs1397511848 0.00001
NM_153240.5(NPHP3):c.1757C>G (p.Ser586Cys) rs1939564898 0.00001
NM_153240.5(NPHP3):c.1791T>C (p.Ala597=) rs1269919387 0.00001
NM_153240.5(NPHP3):c.1841A>G (p.His614Arg) rs1346771272 0.00001
NM_153240.5(NPHP3):c.1857C>G (p.Ile619Met) rs780013712 0.00001
NM_153240.5(NPHP3):c.1871C>T (p.Ser624Phe) rs1939561839 0.00001
NM_153240.5(NPHP3):c.1911G>A (p.Trp637Ter) rs919854764 0.00001
NM_153240.5(NPHP3):c.1920T>G (p.Asp640Glu) rs869312915 0.00001
NM_153240.5(NPHP3):c.1975C>T (p.Pro659Ser) rs1007912862 0.00001
NM_153240.5(NPHP3):c.1986-10T>C rs1449961171 0.00001
NM_153240.5(NPHP3):c.1986-20T>G rs372668523 0.00001
NM_153240.5(NPHP3):c.1986-8C>T rs780778474 0.00001
NM_153240.5(NPHP3):c.2008G>C (p.Asp670His) rs372339999 0.00001
NM_153240.5(NPHP3):c.2060C>T (p.Ser687Phe) rs1017195284 0.00001
NM_153240.5(NPHP3):c.2088+14A>T rs773344647 0.00001
NM_153240.5(NPHP3):c.208C>T (p.Leu70=) rs765533675 0.00001
NM_153240.5(NPHP3):c.2109C>T (p.His703=) rs765177103 0.00001
NM_153240.5(NPHP3):c.2114G>A (p.Arg705His) rs139548649 0.00001
NM_153240.5(NPHP3):c.2154C>T (p.Phe718=) rs558637226 0.00001
NM_153240.5(NPHP3):c.2171+1G>A rs1280230808 0.00001
NM_153240.5(NPHP3):c.2172-19C>A rs759217005 0.00001
NM_153240.5(NPHP3):c.2222G>A (p.Cys741Tyr) rs1451958461 0.00001
NM_153240.5(NPHP3):c.224A>G (p.Lys75Arg) rs1217928367 0.00001
NM_153240.5(NPHP3):c.2259C>T (p.His753=) rs765940696 0.00001
NM_153240.5(NPHP3):c.2263A>C (p.Ile755Leu) rs772613405 0.00001
NM_153240.5(NPHP3):c.2269G>C (p.Glu757Gln) rs776113044 0.00001
NM_153240.5(NPHP3):c.2302A>T (p.Met768Leu) rs777858346 0.00001
NM_153240.5(NPHP3):c.2310+20T>C rs767427222 0.00001
NM_153240.5(NPHP3):c.2311-1G>C rs1363032805 0.00001
NM_153240.5(NPHP3):c.2346G>A (p.Val782=) rs200418725 0.00001
NM_153240.5(NPHP3):c.236C>T (p.Ser79Leu) rs1303757034 0.00001
NM_153240.5(NPHP3):c.237G>A (p.Ser79=) rs555921512 0.00001
NM_153240.5(NPHP3):c.2516C>G (p.Thr839Ser) rs1268939572 0.00001
NM_153240.5(NPHP3):c.2531A>G (p.Tyr844Cys) rs752254827 0.00001
NM_153240.5(NPHP3):c.2560T>C (p.Leu854=) rs758928870 0.00001
NM_153240.5(NPHP3):c.2571-12C>G rs886058003 0.00001
NM_153240.5(NPHP3):c.262G>T (p.Ala88Ser) rs1233421790 0.00001
NM_153240.5(NPHP3):c.2658T>C (p.Leu886=) rs773079895 0.00001
NM_153240.5(NPHP3):c.2666T>C (p.Leu889Pro) rs747876996 0.00001
NM_153240.5(NPHP3):c.2694-2A>T rs1395411307 0.00001
NM_153240.5(NPHP3):c.2731G>A (p.Val911Ile) rs370506189 0.00001
NM_153240.5(NPHP3):c.2805C>T (p.Gly935=) rs1281725083 0.00001
NM_153240.5(NPHP3):c.2883+5G>A rs948593540 0.00001
NM_153240.5(NPHP3):c.2883+8C>G rs373257282 0.00001
NM_153240.5(NPHP3):c.2884-8C>T rs757300023 0.00001
NM_153240.5(NPHP3):c.2894C>T (p.Pro965Leu) rs368791854 0.00001
NM_153240.5(NPHP3):c.289G>A (p.Glu97Lys) rs1188761499 0.00001
NM_153240.5(NPHP3):c.2905T>A (p.Ser969Thr) rs762539833 0.00001
NM_153240.5(NPHP3):c.2934T>A (p.Asp978Glu) rs141960792 0.00001
NM_153240.5(NPHP3):c.2937C>T (p.Pro979=) rs774962213 0.00001
NM_153240.5(NPHP3):c.2948G>A (p.Arg983Lys) rs909410608 0.00001
NM_153240.5(NPHP3):c.2981T>A (p.Val994Glu) rs564239365 0.00001
NM_153240.5(NPHP3):c.3036G>A (p.Leu1012=) rs1036061016 0.00001
NM_153240.5(NPHP3):c.3037G>C (p.Glu1013Gln) rs762836818 0.00001
NM_153240.5(NPHP3):c.306C>T (p.Arg102=) rs762134618 0.00001
NM_153240.5(NPHP3):c.3111C>G (p.Tyr1037Ter) rs1007848349 0.00001
NM_153240.5(NPHP3):c.3135A>G (p.Gln1045=) rs745568685 0.00001
NM_153240.5(NPHP3):c.3143A>G (p.His1048Arg) rs934058701 0.00001
NM_153240.5(NPHP3):c.3226C>T (p.Arg1076Trp) rs553665584 0.00001
NM_153240.5(NPHP3):c.3237G>C (p.Gln1079His) rs764287266 0.00001
NM_153240.5(NPHP3):c.323A>C (p.Glu108Ala) rs371290162 0.00001
NM_153240.5(NPHP3):c.3280C>T (p.Arg1094Trp) rs759495075 0.00001
NM_153240.5(NPHP3):c.3290A>G (p.Asn1097Ser) rs1157229330 0.00001
NM_153240.5(NPHP3):c.3304C>G (p.Leu1102Val) rs779376432 0.00001
NM_153240.5(NPHP3):c.3306C>G (p.Leu1102=) rs757542289 0.00001
NM_153240.5(NPHP3):c.3318A>G (p.Gln1106=) rs1161730457 0.00001
NM_153240.5(NPHP3):c.334A>G (p.Met112Val) rs1465252607 0.00001
NM_153240.5(NPHP3):c.3352C>T (p.Arg1118Cys) rs757710406 0.00001
NM_153240.5(NPHP3):c.3353G>A (p.Arg1118His) rs749623594 0.00001
NM_153240.5(NPHP3):c.3373C>T (p.Arg1125Ter) rs368138001 0.00001
NM_153240.5(NPHP3):c.3393C>T (p.His1131=) rs1416876931 0.00001
NM_153240.5(NPHP3):c.3422T>C (p.Leu1141Pro) rs1057521090 0.00001
NM_153240.5(NPHP3):c.3433T>C (p.Cys1145Arg) rs200287294 0.00001
NM_153240.5(NPHP3):c.346G>A (p.Glu116Lys) rs1188632308 0.00001
NM_153240.5(NPHP3):c.3480A>G (p.Arg1160=) rs1393705320 0.00001
NM_153240.5(NPHP3):c.3493C>T (p.Arg1165Trp) rs1330141890 0.00001
NM_153240.5(NPHP3):c.3494G>A (p.Arg1165Gln) rs138630766 0.00001
NM_153240.5(NPHP3):c.3499C>T (p.Arg1167Cys) rs201135796 0.00001
NM_153240.5(NPHP3):c.3507A>T (p.Leu1169Phe) rs1468602074 0.00001
NM_153240.5(NPHP3):c.3532T>C (p.Tyr1178His) rs113637009 0.00001
NM_153240.5(NPHP3):c.3537G>A (p.Thr1179=) rs761585621 0.00001
NM_153240.5(NPHP3):c.3540G>A (p.Val1180=) rs1939108951 0.00001
NM_153240.5(NPHP3):c.354G>A (p.Lys118=) rs769508776 0.00001
NM_153240.5(NPHP3):c.3563A>G (p.Lys1188Arg) rs772079066 0.00001
NM_153240.5(NPHP3):c.3619C>T (p.Arg1207Ter) rs780020801 0.00001
NM_153240.5(NPHP3):c.3680T>C (p.Val1227Ala) rs1464247795 0.00001
NM_153240.5(NPHP3):c.3696+20C>T rs773940041 0.00001
NM_153240.5(NPHP3):c.3697-7T>A rs777908405 0.00001
NM_153240.5(NPHP3):c.3705C>T (p.His1235=) rs753143081 0.00001
NM_153240.5(NPHP3):c.3706G>A (p.Val1236Ile) rs985289177 0.00001
NM_153240.5(NPHP3):c.3805G>A (p.Val1269Met) rs150019603 0.00001
NM_153240.5(NPHP3):c.3816T>C (p.Tyr1272=) rs777264064 0.00001
NM_153240.5(NPHP3):c.3866A>C (p.Glu1289Ala) rs759336230 0.00001
NM_153240.5(NPHP3):c.3875A>C (p.Glu1292Ala) rs766281273 0.00001
NM_153240.5(NPHP3):c.3912A>G (p.Ser1304=) rs114049311 0.00001
NM_153240.5(NPHP3):c.3914G>A (p.Arg1305His) rs781537576 0.00001
NM_153240.5(NPHP3):c.424C>T (p.Arg142Ter) rs771742823 0.00001
NM_153240.5(NPHP3):c.428A>T (p.Glu143Val) rs1576688460 0.00001
NM_153240.5(NPHP3):c.430A>G (p.Lys144Glu) rs745342273 0.00001
NM_153240.5(NPHP3):c.520-12T>C rs763909286 0.00001
NM_153240.5(NPHP3):c.589C>T (p.Leu197Phe) rs111707939 0.00001
NM_153240.5(NPHP3):c.600A>G (p.Leu200=) rs749309370 0.00001
NM_153240.5(NPHP3):c.653A>G (p.Asn218Ser) rs199956251 0.00001
NM_153240.5(NPHP3):c.657T>C (p.Cys219=) rs200533815 0.00001
NM_153240.5(NPHP3):c.671-14C>A rs370887292 0.00001
NM_153240.5(NPHP3):c.684A>G (p.Gln228=) rs1369748544 0.00001
NM_153240.5(NPHP3):c.686G>A (p.Cys229Tyr) rs1424177439 0.00001
NM_153240.5(NPHP3):c.707C>G (p.Ala236Gly) rs1488359125 0.00001
NM_153240.5(NPHP3):c.767C>T (p.Pro256Leu) rs374171796 0.00001
NM_153240.5(NPHP3):c.783T>G (p.Ser261Arg) rs752050701 0.00001
NM_153240.5(NPHP3):c.800G>C (p.Gly267Ala) rs1467512285 0.00001
NM_153240.5(NPHP3):c.801A>T (p.Gly267=) rs763333048 0.00001
NM_153240.5(NPHP3):c.823+20A>G rs898519948 0.00001
NM_153240.5(NPHP3):c.856C>G (p.Gln286Glu) rs775337662 0.00001
NM_153240.5(NPHP3):c.876A>G (p.Ser292=) rs777368543 0.00001
NM_153240.5(NPHP3):c.896C>T (p.Thr299Ile) rs1940015669 0.00001
NM_153240.5(NPHP3):c.903A>G (p.Arg301=) rs375395871 0.00001
NM_153240.5(NPHP3):c.921A>G (p.Thr307=) rs368874413 0.00001
NM_153240.5(NPHP3):c.958G>T (p.Asp320Tyr) rs75288730 0.00001
NM_153240.5(NPHP3):c.987C>T (p.Cys329=) rs138124482 0.00001
NM_153240.5(NPHP3):c.988G>A (p.Glu330Lys) rs758498695 0.00001
NC_000001.10:g.(?_4715486)_(6012896_?)dup
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_000001.10:g.(?_5967155)_(5969293_?)dup
NC_000001.10:g.(?_6046195)_(6101952_?)dup
NC_000001.11:g.(?_5978270)_(5978413_?)del
NC_000001.11:g.5948252del
NC_000002.11:g.(?_110849180)_(110962545_?)dup
NC_000002.11:g.(?_110879913)_(110963639_?)del
NC_000002.11:g.(?_110879913)_(110963639_?)dup
NC_000002.11:g.(?_110881368)_(110886856_?)del
NC_000002.11:g.(?_110881368)_(110937261_?)dup
NC_000002.11:g.(?_110881368)_(110937281_?)del
NC_000002.11:g.(?_110881368)_(110959091_?)del
NC_000002.11:g.(?_110881368)_(110962545_?)dup
NC_000002.11:g.(?_110907739)_(110962545_?)dup
NC_000002.11:g.(?_110922097)_(110962545_?)dup
NC_000002.11:g.(?_110927363)_(110927595_?)dup
NC_000002.11:g.(?_110958978)_(110962545_?)del
NC_000002.11:g.(?_110962457)_(110962545_?)dup
NC_000002.12:g.(?_110091603)_(110161697_?)dup
NC_000002.12:g.(?_110091603)_(110204968_?)del
NC_000002.12:g.(?_110123771)_(110204988_?)del
NC_000002.12:g.(?_110123791)_(110161697_?)dup
NC_000002.12:g.(?_110123791)_(110164730_?)dup
NC_000002.12:g.(?_110123791)_(110201494_?)del
NC_000002.12:g.(?_110123791)_(110201494_?)dup
NC_000002.12:g.(?_110123791)_(110204968_?)del
NC_000002.12:g.(?_110144493)_(110150256_?)del
NC_000002.12:g.(?_110163048)_(110204968_?)del
NC_000002.12:g.(?_110168442)_(110204968_?)dup
NC_000002.12:g.110131796_110131797insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGGCAGTAGACTATT
NC_000003.11:g.(?_121459590)_(121547499_?)del
NC_000003.11:g.(?_121489192)_(121489441_?)del
NC_000003.11:g.(?_121491404)_(121500721_?)dup
NC_000003.11:g.(?_121526171)_(121527876_?)del
NC_000003.11:g.(?_121547297)_(121547807_?)del
NC_000003.11:g.(?_132379382)_(132441199_?)dup
NC_000003.11:g.(?_132379382)_(133191429_?)del
NC_000003.11:g.(?_132407898)_(132411682_?)del
NC_000003.11:g.(?_132410016)_(132411682_?)del
NC_000003.11:g.(?_132413221)_(132415677_?)del
NC_000003.11:g.(?_132418742)_(132424678_?)del
NC_000003.12:g.(?_121772557)_(121781874_?)del
NC_000003.12:g.(?_132465995)_(132722355_?)dup
NC_000003.12:g.(?_132681890)_(132684814_?)del
NC_000009.11:g.(?_100190748)_(103062956_?)del
NC_000009.11:g.(?_102866804)_(102866929_?)del
NC_000009.11:g.(?_102866804)_(103035378_?)dup
NC_000009.11:g.(?_102886435)_(102888697_?)del
NC_000009.11:g.(?_102988324)_(103035378_?)del
NC_000009.11:g.(?_102988324)_(103062956_?)dup
NC_000009.11:g.(?_103002531)_(103006718_?)del
NC_000009.11:g.(?_103004832)_(103009089_?)del
NC_000009.11:g.(?_103008898)_(103009069_?)del
NC_000009.11:g.(?_103014545)_(103015438_?)del
NC_000009.11:g.(?_103014545)_(103015438_?)dup
NC_000009.11:g.(?_103027084)_(103027230_?)del
NC_000009.11:g.(?_103027084)_(103035378_?)del
NC_000009.11:g.(?_103059179)_(103060312_?)del
NC_000009.12:g.(?_100104498)_(100104627_?)del
NC_000009.12:g.(?_100126363)_(100126569_?)del
NC_000009.12:g.(?_100226042)_(100226255_?)del
NC_000016.9:g.(?_4386706)_(4387545_?)dup
NM_000272.3(NPHP1):c.(?_-1)_(*1_?)del
NM_000272.3(NPHP1):c.(?_-1)_(*1_?)dup
NM_000272.3(NPHP1):c.625-3dup rs200118387
NM_000272.3:c.205-?_*455+?dup
NM_000272.5(NPHP1):c.(?_-45)_(*443_?)del
NM_001023570.4(IQCB1):c.100+14T>C
NM_001023570.4(IQCB1):c.1000A>G (p.Lys334Glu) rs532987681
NM_001023570.4(IQCB1):c.100G>T (p.Glu34Ter)
NM_001023570.4(IQCB1):c.101-13C>T
NM_001023570.4(IQCB1):c.101-14T>G rs200820580
NM_001023570.4(IQCB1):c.101-18T>G rs2108643441
NM_001023570.4(IQCB1):c.101-1G>A rs1372024420
NM_001023570.4(IQCB1):c.101-1G>T
NM_001023570.4(IQCB1):c.101-4T>G rs1950533086
NM_001023570.4(IQCB1):c.101-6C>T
NM_001023570.4(IQCB1):c.1053A>G (p.Gln351=)
NM_001023570.4(IQCB1):c.1054T>C (p.Leu352=) rs2108548136
NM_001023570.4(IQCB1):c.1059A>G (p.Gln353=)
NM_001023570.4(IQCB1):c.1069C>G (p.Gln357Glu)
NM_001023570.4(IQCB1):c.1075G>T (p.Ala359Ser)
NM_001023570.4(IQCB1):c.1098G>A (p.Leu366=)
NM_001023570.4(IQCB1):c.1125T>G (p.His375Gln)
NM_001023570.4(IQCB1):c.1129+17A>T
NM_001023570.4(IQCB1):c.1130-14dup rs1559763497
NM_001023570.4(IQCB1):c.1130-19G>C
NM_001023570.4(IQCB1):c.1130-20A>G
NM_001023570.4(IQCB1):c.115A>C (p.Thr39Pro)
NM_001023570.4(IQCB1):c.115A>G (p.Thr39Ala)
NM_001023570.4(IQCB1):c.1167A>G (p.Lys389=) rs773702869
NM_001023570.4(IQCB1):c.1181T>G (p.Ile394Ser) rs2108543749
NM_001023570.4(IQCB1):c.1184A>T (p.Gln395Leu)
NM_001023570.4(IQCB1):c.1190A>G (p.His397Arg)
NM_001023570.4(IQCB1):c.1206G>A (p.Arg402=) rs2108543655
NM_001023570.4(IQCB1):c.1210A>C (p.Arg404=) rs1354344876
NM_001023570.4(IQCB1):c.1210A>G (p.Arg404Gly) rs1354344876
NM_001023570.4(IQCB1):c.1212G>A (p.Arg404=) rs2108543616
NM_001023570.4(IQCB1):c.1215A>G (p.Lys405=) rs1264884946
NM_001023570.4(IQCB1):c.1226A>G (p.Gln409Arg) rs368525345
NM_001023570.4(IQCB1):c.1235A>T (p.Gln412Leu) rs199533438
NM_001023570.4(IQCB1):c.1240C>G (p.Leu414Val) rs1948818458
NM_001023570.4(IQCB1):c.1240C>T (p.Leu414Phe) rs1948818458
NM_001023570.4(IQCB1):c.1250A>T (p.Tyr417Phe) rs777697438
NM_001023570.4(IQCB1):c.1253A>C (p.Lys418Thr)
NM_001023570.4(IQCB1):c.126A>G (p.Gly42=) rs2108643287
NM_001023570.4(IQCB1):c.1274G>A (p.Arg425Lys) rs1450149889
NM_001023570.4(IQCB1):c.1278+12G>A rs2108543099
NM_001023570.4(IQCB1):c.1278+2del
NM_001023570.4(IQCB1):c.1279-10_1279-8del
NM_001023570.4(IQCB1):c.1279-14T>G
NM_001023570.4(IQCB1):c.1279-15T>A
NM_001023570.4(IQCB1):c.1279-17A>C
NM_001023570.4(IQCB1):c.1279-6T>C
NM_001023570.4(IQCB1):c.1279-8del rs758519096
NM_001023570.4(IQCB1):c.1280C>A (p.Ala427Glu) rs138646990
NM_001023570.4(IQCB1):c.1280C>T (p.Ala427Val) rs138646990
NM_001023570.4(IQCB1):c.1296G>A (p.Ala432=) rs761109901
NM_001023570.4(IQCB1):c.1296G>T (p.Ala432=) rs761109901
NM_001023570.4(IQCB1):c.1314_1315delinsCT (p.Lys438_Lys439delinsAsnTer)
NM_001023570.4(IQCB1):c.1319T>C (p.Leu440Pro) rs749515337
NM_001023570.4(IQCB1):c.132A>G (p.Ser44=)
NM_001023570.4(IQCB1):c.1360C>T (p.Arg454Cys)
NM_001023570.4(IQCB1):c.1363C>A (p.Arg455=) rs866982675
NM_001023570.4(IQCB1):c.1363C>T (p.Arg455Ter) rs866982675
NM_001023570.4(IQCB1):c.1369G>C (p.Glu457Gln)
NM_001023570.4(IQCB1):c.1371A>G (p.Glu457=)
NM_001023570.4(IQCB1):c.137T>A (p.Leu46Ter) rs2108643223
NM_001023570.4(IQCB1):c.1399A>G (p.Arg467Gly)
NM_001023570.4(IQCB1):c.139A>G (p.Lys47Glu)
NM_001023570.4(IQCB1):c.1410+13T>C
NM_001023570.4(IQCB1):c.1410+18C>T rs886038375
NM_001023570.4(IQCB1):c.1410+19A>G
NM_001023570.4(IQCB1):c.1410+20T>G
NM_001023570.4(IQCB1):c.1411-12C>G
NM_001023570.4(IQCB1):c.1411-6T>A
NM_001023570.4(IQCB1):c.1418C>T (p.Pro473Leu)
NM_001023570.4(IQCB1):c.142A>G (p.Lys48Glu)
NM_001023570.4(IQCB1):c.1443G>A (p.Glu481=)
NM_001023570.4(IQCB1):c.1450G>A (p.Ala484Thr) rs776788131
NM_001023570.4(IQCB1):c.1465C>A (p.Arg489=)
NM_001023570.4(IQCB1):c.1471C>T (p.Gln491Ter)
NM_001023570.4(IQCB1):c.1484T>C (p.Met495Thr) rs2108507338
NM_001023570.4(IQCB1):c.1486G>C (p.Gly496Arg)
NM_001023570.4(IQCB1):c.1487G>A (p.Gly496Asp)
NM_001023570.4(IQCB1):c.1491G>A (p.Arg497=)
NM_001023570.4(IQCB1):c.1491G>T (p.Arg497Ser) rs1346401319
NM_001023570.4(IQCB1):c.1496del (p.Leu499fs)
NM_001023570.4(IQCB1):c.1498G>A (p.Glu500Lys)
NM_001023570.4(IQCB1):c.1499A>G (p.Glu500Gly)
NM_001023570.4(IQCB1):c.1501G>T (p.Glu501Ter)
NM_001023570.4(IQCB1):c.150A>G (p.Lys50=)
NM_001023570.4(IQCB1):c.1510C>T (p.Gln504Ter)
NM_001023570.4(IQCB1):c.1516C>A (p.His506Asn) rs2108507224
NM_001023570.4(IQCB1):c.1518_1519del (p.His506fs) rs398123538
NM_001023570.4(IQCB1):c.1522_1523dup (p.Ala509fs) rs587783011
NM_001023570.4(IQCB1):c.1532_1536dup (p.Gln513Ter)
NM_001023570.4(IQCB1):c.153A>C (p.Gln51His) rs773874600
NM_001023570.4(IQCB1):c.1549A>G (p.Asn517Asp) rs139468837
NM_001023570.4(IQCB1):c.1563A>G (p.Leu521=)
NM_001023570.4(IQCB1):c.1567+10C>G
NM_001023570.4(IQCB1):c.1567+17C>T
NM_001023570.4(IQCB1):c.1567+20T>C
NM_001023570.4(IQCB1):c.1567+4T>C
NM_001023570.4(IQCB1):c.1568-11G>A
NM_001023570.4(IQCB1):c.1568-13C>T
NM_001023570.4(IQCB1):c.1568-19T>A
NM_001023570.4(IQCB1):c.1568-19del rs148949254
NM_001023570.4(IQCB1):c.1568-6C>T
NM_001023570.4(IQCB1):c.1573C>T (p.Pro525Ser)
NM_001023570.4(IQCB1):c.1574_1576del (p.Pro525_Ser526delinsArg)
NM_001023570.4(IQCB1):c.1589C>A (p.Ala530Glu) rs2108503429
NM_001023570.4(IQCB1):c.1605T>C (p.Pro535=)
NM_001023570.4(IQCB1):c.1608G>A (p.Glu536=) rs1947928282
NM_001023570.4(IQCB1):c.1647C>G (p.Ala549=)
NM_001023570.4(IQCB1):c.1655C>T (p.Ala552Val)
NM_001023570.4(IQCB1):c.1667C>T (p.Thr556Ile) rs2108503202
NM_001023570.4(IQCB1):c.1675C>G (p.His559Asp) rs1947924234
NM_001023570.4(IQCB1):c.1678A>G (p.Ile560Val)
NM_001023570.4(IQCB1):c.1683A>G (p.Gln561=)
NM_001023570.4(IQCB1):c.1687C>G (p.Pro563Ala)
NM_001023570.4(IQCB1):c.1688C>G (p.Pro563Arg) rs767653545
NM_001023570.4(IQCB1):c.1689C>T (p.Pro563=) rs1947922675
NM_001023570.4(IQCB1):c.16A>G (p.Thr6Ala) rs749733618
NM_001023570.4(IQCB1):c.1706G>C (p.Gly569Ala)
NM_001023570.4(IQCB1):c.1707A>T (p.Gly569=)
NM_001023570.4(IQCB1):c.1711G>T (p.Glu571Ter) rs2108503098
NM_001023570.4(IQCB1):c.1720G>A (p.Asp574Asn)
NM_001023570.4(IQCB1):c.1738A>C (p.Lys580Gln) rs2108503039
NM_001023570.4(IQCB1):c.1746G>A (p.Glu582=) rs1215687445
NM_001023570.4(IQCB1):c.1752T>C (p.Ser584=)
NM_001023570.4(IQCB1):c.1769T>G (p.Leu590Ter) rs1947917811
NM_001023570.4(IQCB1):c.178C>T (p.Gln60Ter) rs776023179
NM_001023570.4(IQCB1):c.214C>G (p.Arg72Gly) rs201405662
NM_001023570.4(IQCB1):c.214C>T (p.Arg72Ter) rs201405662
NM_001023570.4(IQCB1):c.264-17T>C rs569996040
NM_001023570.4(IQCB1):c.264-18C>A
NM_001023570.4(IQCB1):c.264-20A>C rs772081031
NM_001023570.4(IQCB1):c.264-2A>T rs727503969
NM_001023570.4(IQCB1):c.264-3C>T rs1950460725
NM_001023570.4(IQCB1):c.264-5T>A
NM_001023570.4(IQCB1):c.264-8T>C
NM_001023570.4(IQCB1):c.273dup (p.Val92fs) rs1201853761
NM_001023570.4(IQCB1):c.280T>C (p.Leu94=) rs2108637684
NM_001023570.4(IQCB1):c.295G>A (p.Asp99Asn) rs1950459236
NM_001023570.4(IQCB1):c.298G>A (p.Ala100Thr)
NM_001023570.4(IQCB1):c.29T>A (p.Ile10Asn)
NM_001023570.4(IQCB1):c.30C>A (p.Ile10=) rs745953463
NM_001023570.4(IQCB1):c.314A>G (p.Asn105Ser) rs1950458495
NM_001023570.4(IQCB1):c.319T>A (p.Leu107Ile) rs2108637533
NM_001023570.4(IQCB1):c.332C>T (p.Ala111Val)
NM_001023570.4(IQCB1):c.340A>C (p.Asn114His) rs2108637450
NM_001023570.4(IQCB1):c.362A>G (p.Gln121Arg) rs2108637383
NM_001023570.4(IQCB1):c.366A>C (p.Leu122Phe) rs766755059
NM_001023570.4(IQCB1):c.369A>T (p.Gln123His) rs970350621
NM_001023570.4(IQCB1):c.383A>G (p.Asn128Ser)
NM_001023570.4(IQCB1):c.385G>C (p.Ala129Pro) rs767567960
NM_001023570.4(IQCB1):c.387A>C (p.Ala129=)
NM_001023570.4(IQCB1):c.392A>G (p.Lys131Arg) rs1576616726
NM_001023570.4(IQCB1):c.393+15A>C
NM_001023570.4(IQCB1):c.393+8T>A
NM_001023570.4(IQCB1):c.394-15_394-10dup rs768572151
NM_001023570.4(IQCB1):c.394-1G>A
NM_001023570.4(IQCB1):c.394-3A>G
NM_001023570.4(IQCB1):c.410A>G (p.Glu137Gly)
NM_001023570.4(IQCB1):c.424_425del (p.Phe142fs) rs750962965
NM_001023570.4(IQCB1):c.447C>T (p.Leu149=) rs906059556
NM_001023570.4(IQCB1):c.455T>G (p.Leu152Arg)
NM_001023570.4(IQCB1):c.461G>A (p.Gly154Glu) rs376120512
NM_001023570.4(IQCB1):c.479T>C (p.Ile160Thr)
NM_001023570.4(IQCB1):c.487+16T>A
NM_001023570.4(IQCB1):c.487+17T>C
NM_001023570.4(IQCB1):c.487+19A>G rs752104367
NM_001023570.4(IQCB1):c.487+6A>G
NM_001023570.4(IQCB1):c.487+9A>T
NM_001023570.4(IQCB1):c.487G>A (p.Val163Ile)
NM_001023570.4(IQCB1):c.488-13del rs753164790
NM_001023570.4(IQCB1):c.488-13dup rs753164790
NM_001023570.4(IQCB1):c.488-22_488-19del
NM_001023570.4(IQCB1):c.488-5T>G
NM_001023570.4(IQCB1):c.490C>T (p.Leu164=)
NM_001023570.4(IQCB1):c.490del (p.Leu164fs) rs2108591614
NM_001023570.4(IQCB1):c.491T>C (p.Leu164Pro) rs746194022
NM_001023570.4(IQCB1):c.493C>G (p.Gln165Glu) rs781508757
NM_001023570.4(IQCB1):c.493C>T (p.Gln165Ter)
NM_001023570.4(IQCB1):c.549A>C (p.Ala183=)
NM_001023570.4(IQCB1):c.550G>A (p.Val184Ile)
NM_001023570.4(IQCB1):c.580A>T (p.Ile194Phe) rs1412812453
NM_001023570.4(IQCB1):c.588-16del rs574290389
NM_001023570.4(IQCB1):c.588-18T>A
NM_001023570.4(IQCB1):c.588-25dup rs574290389
NM_001023570.4(IQCB1):c.601A>T (p.Arg201Ter) rs2108571563
NM_001023570.4(IQCB1):c.623A>G (p.Tyr208Cys)
NM_001023570.4(IQCB1):c.634G>C (p.Asp212His)
NM_001023570.4(IQCB1):c.635A>G (p.Asp212Gly)
NM_001023570.4(IQCB1):c.64G>C (p.Glu22Gln) rs1473351493
NM_001023570.4(IQCB1):c.65A>G (p.Glu22Gly)
NM_001023570.4(IQCB1):c.664C>T (p.Pro222Ser)
NM_001023570.4(IQCB1):c.688G>A (p.Ala230Thr)
NM_001023570.4(IQCB1):c.704T>A (p.Leu235Gln) rs1949315817
NM_001023570.4(IQCB1):c.705G>A (p.Leu235=)
NM_001023570.4(IQCB1):c.729_754del (p.Glu243fs) rs773848660
NM_001023570.4(IQCB1):c.751dup (p.Ser251fs)
NM_001023570.4(IQCB1):c.757del (p.Cys253fs) rs1949313357
NM_001023570.4(IQCB1):c.759C>A (p.Cys253Ter)
NM_001023570.4(IQCB1):c.75C>G (p.Val25=)
NM_001023570.4(IQCB1):c.766+19_766+22del
NM_001023570.4(IQCB1):c.767-11T>C
NM_001023570.4(IQCB1):c.767-9C>T
NM_001023570.4(IQCB1):c.76C>T (p.Pro26Ser)
NM_001023570.4(IQCB1):c.772A>G (p.Arg258Gly) rs2108566176
NM_001023570.4(IQCB1):c.775C>T (p.Arg259Cys) rs778777181
NM_001023570.4(IQCB1):c.782T>A (p.Leu261Gln) rs199959360
NM_001023570.4(IQCB1):c.804T>G (p.Thr268=) rs765859616
NM_001023570.4(IQCB1):c.817G>T (p.Glu273Ter) rs794727964
NM_001023570.4(IQCB1):c.823dup (p.Arg275fs)
NM_001023570.4(IQCB1):c.825_828del (p.Arg275fs) rs1474058708
NM_001023570.4(IQCB1):c.849A>G (p.Pro283=)
NM_001023570.4(IQCB1):c.861G>T (p.Gln287His)
NM_001023570.4(IQCB1):c.862G>T (p.Glu288Ter) rs1949225959
NM_001023570.4(IQCB1):c.862del (p.Glu288fs)
NM_001023570.4(IQCB1):c.864A>G (p.Glu288=)
NM_001023570.4(IQCB1):c.871G>A (p.Glu291Lys) rs1030791636
NM_001023570.4(IQCB1):c.876+12dup
NM_001023570.4(IQCB1):c.876+16A>T
NM_001023570.4(IQCB1):c.876+18_876+24del
NM_001023570.4(IQCB1):c.887A>G (p.Gln296Arg)
NM_001023570.4(IQCB1):c.891A>G (p.Ala297=)
NM_001023570.4(IQCB1):c.895T>A (p.Cys299Ser) rs1949147133
NM_001023570.4(IQCB1):c.897_900dup (p.Ile301fs) rs745340459
NM_001023570.4(IQCB1):c.904C>A (p.Gln302Lys) rs756776335
NM_001023570.4(IQCB1):c.917A>C (p.Lys306Thr) rs1471637477
NM_001023570.4(IQCB1):c.919_920insC (p.Gly307fs) rs772827691
NM_001023570.4(IQCB1):c.927G>C (p.Gln309His) rs2108561479
NM_001023570.4(IQCB1):c.948G>A (p.Lys316=)
NM_001023570.4(IQCB1):c.96A>G (p.Leu32=)
NM_001023570.4(IQCB1):c.975G>T (p.Gln325His)
NM_001023570.4(IQCB1):c.986+20G>A
NM_001023570.4(IQCB1):c.986+9del
NM_001128178.3(NPHP1):c.1003T>C (p.Cys335Arg) rs112297047
NM_001128178.3(NPHP1):c.1005T>C (p.Cys335=)
NM_001128178.3(NPHP1):c.1016C>A (p.Pro339His) rs746482479
NM_001128178.3(NPHP1):c.1016dup (p.Leu340fs) rs398123285
NM_001128178.3(NPHP1):c.1022C>G (p.Pro341Arg)
NM_001128178.3(NPHP1):c.1023A>G (p.Pro341=)
NM_001128178.3(NPHP1):c.1033A>C (p.Ile345Leu) rs1365124220
NM_001128178.3(NPHP1):c.1039del (p.Val347fs)
NM_001128178.3(NPHP1):c.1047C>A (p.Ser349Arg) rs2104542406
NM_001128178.3(NPHP1):c.1049G>A (p.Arg350Lys) rs754768821
NM_001128178.3(NPHP1):c.1059C>T (p.Arg353=)
NM_001128178.3(NPHP1):c.1064_1080del (p.Leu354_Cys355insTer)
NM_001128178.3(NPHP1):c.1066C>T (p.Leu356=)
NM_001128178.3(NPHP1):c.1083+11T>A
NM_001128178.3(NPHP1):c.1083+11T>C
NM_001128178.3(NPHP1):c.1083+12G>A
NM_001128178.3(NPHP1):c.1083+6G>T
NM_001128178.3(NPHP1):c.1084-16dup
NM_001128178.3(NPHP1):c.1084-1G>T rs1458494785
NM_001128178.3(NPHP1):c.1091G>A (p.Ser364Asn) rs1681364664
NM_001128178.3(NPHP1):c.1097T>C (p.Ile366Thr)
NM_001128178.3(NPHP1):c.1099C>T (p.His367Tyr)
NM_001128178.3(NPHP1):c.111A>G (p.Leu37=) rs2104714862
NM_001128178.3(NPHP1):c.1130A>C (p.Lys377Thr) rs1441711189
NM_001128178.3(NPHP1):c.1130del (p.Lys377fs) rs772720024
NM_001128178.3(NPHP1):c.1140A>T (p.Thr380=)
NM_001128178.3(NPHP1):c.1146C>A (p.Thr382=)
NM_001128178.3(NPHP1):c.1154C>T (p.Pro385Leu)
NM_001128178.3(NPHP1):c.1155C>T (p.Pro385=)
NM_001128178.3(NPHP1):c.1158+15G>A
NM_001128178.3(NPHP1):c.1158+15G>T
NM_001128178.3(NPHP1):c.1158+1G>A
NM_001128178.3(NPHP1):c.1159-18dup
NM_001128178.3(NPHP1):c.1159-20T>C rs990050723
NM_001128178.3(NPHP1):c.1159-8C>A
NM_001128178.3(NPHP1):c.1164T>C (p.Thr388=)
NM_001128178.3(NPHP1):c.1165C>G (p.Arg389Gly) rs375907280
NM_001128178.3(NPHP1):c.1165C>T (p.Arg389Cys) rs375907280
NM_001128178.3(NPHP1):c.1166G>A (p.Arg389His) rs140979636
NM_001128178.3(NPHP1):c.1166G>C (p.Arg389Pro) rs140979636
NM_001128178.3(NPHP1):c.1170C>A (p.Ile390=)
NM_001128178.3(NPHP1):c.1173A>G (p.Leu391=)
NM_001128178.3(NPHP1):c.1176A>G (p.Pro392=) rs2104497160
NM_001128178.3(NPHP1):c.1177T>C (p.Cys393Arg)
NM_001128178.3(NPHP1):c.117C>T (p.Pro39=)
NM_001128178.3(NPHP1):c.1188T>C (p.Asp396=)
NM_001128178.3(NPHP1):c.1190G>T (p.Gly397Val) rs1681189257
NM_001128178.3(NPHP1):c.1197C>T (p.Cys399=)
NM_001128178.3(NPHP1):c.11G>A (p.Arg4Lys)
NM_001128178.3(NPHP1):c.1211A>G (p.Asn404Ser) rs1681187580
NM_001128178.3(NPHP1):c.1211_1213del (p.Asn404_Ser405delinsThr) rs1681187208
NM_001128178.3(NPHP1):c.1220del (p.Ser407fs)
NM_001128178.3(NPHP1):c.1229T>C (p.Leu410Pro) rs765450176
NM_001128178.3(NPHP1):c.1230del (p.Gly411fs)
NM_001128178.3(NPHP1):c.1231G>A (p.Gly411Arg) rs759936705
NM_001128178.3(NPHP1):c.1246_1252del (p.Leu416fs)
NM_001128178.3(NPHP1):c.1247T>G (p.Leu416Arg)
NM_001128178.3(NPHP1):c.1251A>G (p.Gly417=)
NM_001128178.3(NPHP1):c.1263T>G (p.Ile421Met) rs2104496731
NM_001128178.3(NPHP1):c.1264C>T (p.Arg422Cys)
NM_001128178.3(NPHP1):c.1265G>A (p.Arg422His) rs773810185
NM_001128178.3(NPHP1):c.1265G>T (p.Arg422Leu) rs773810185
NM_001128178.3(NPHP1):c.1268A>G (p.Asn423Ser)
NM_001128178.3(NPHP1):c.1269+15A>G
NM_001128178.3(NPHP1):c.1269+17A>G
NM_001128178.3(NPHP1):c.1269+9G>C rs13414551
NM_001128178.3(NPHP1):c.1269+9G>T
NM_001128178.3(NPHP1):c.1269T>C (p.Asn423=)
NM_001128178.3(NPHP1):c.1270-12C>G
NM_001128178.3(NPHP1):c.1270-12C>T rs772635725
NM_001128178.3(NPHP1):c.1270-14G>T
NM_001128178.3(NPHP1):c.1270-19T>C
NM_001128178.3(NPHP1):c.1270-2A>G
NM_001128178.3(NPHP1):c.127C>T (p.Gln43Ter)
NM_001128178.3(NPHP1):c.1308G>A (p.Val436=)
NM_001128178.3(NPHP1):c.1314T>C (p.Leu438=)
NM_001128178.3(NPHP1):c.1320T>G (p.Leu440=)
NM_001128178.3(NPHP1):c.1332T>C (p.Ser444=)
NM_001128178.3(NPHP1):c.1346C>T (p.Pro449Leu) rs2104492226
NM_001128178.3(NPHP1):c.1349C>G (p.Ala450Gly)
NM_001128178.3(NPHP1):c.1352+12A>G
NM_001128178.3(NPHP1):c.1352+14A>G
NM_001128178.3(NPHP1):c.1352+16A>G
NM_001128178.3(NPHP1):c.1352+17T>C
NM_001128178.3(NPHP1):c.1352+2T>C
NM_001128178.3(NPHP1):c.1353-12A>G
NM_001128178.3(NPHP1):c.1353-16T>C
NM_001128178.3(NPHP1):c.1353-20T>A
NM_001128178.3(NPHP1):c.1353-4A>C
NM_001128178.3(NPHP1):c.1353-8T>G
NM_001128178.3(NPHP1):c.1359T>C (p.Tyr453=) rs756580864
NM_001128178.3(NPHP1):c.1362G>A (p.Glu454=) rs2104483951
NM_001128178.3(NPHP1):c.1363C>T (p.Leu455Phe)
NM_001128178.3(NPHP1):c.1371G>T (p.Leu457Phe) rs2104483940
NM_001128178.3(NPHP1):c.1374T>C (p.Asn458=)
NM_001128178.3(NPHP1):c.1379dup (p.Thr461fs) rs2104483923
NM_001128178.3(NPHP1):c.137A>G (p.Tyr46Cys) rs1212780955
NM_001128178.3(NPHP1):c.1384C>T (p.Pro462Ser)
NM_001128178.3(NPHP1):c.1386T>A (p.Pro462=)
NM_001128178.3(NPHP1):c.1389T>C (p.Tyr463=)
NM_001128178.3(NPHP1):c.1398T>C (p.Gly466=)
NM_001128178.3(NPHP1):c.1407G>A (p.Val469=) rs1284022173
NM_001128178.3(NPHP1):c.1412C>T (p.Pro471Leu)
NM_001128178.3(NPHP1):c.1412del (p.Pro471fs) rs1680874514
NM_001128178.3(NPHP1):c.141A>G (p.Gln47=)
NM_001128178.3(NPHP1):c.141_143+40del
NM_001128178.3(NPHP1):c.1427G>A (p.Arg476Lys)
NM_001128178.3(NPHP1):c.1429+14G>A
NM_001128178.3(NPHP1):c.1429+16_1429+20del
NM_001128178.3(NPHP1):c.1429+9C>T
NM_001128178.3(NPHP1):c.143+15A>G
NM_001128178.3(NPHP1):c.143+19T>C
NM_001128178.3(NPHP1):c.143+20A>G
NM_001128178.3(NPHP1):c.143+7T>C
NM_001128178.3(NPHP1):c.143+7T>G
NM_001128178.3(NPHP1):c.1430-15G>A
NM_001128178.3(NPHP1):c.1430-15G>T
NM_001128178.3(NPHP1):c.1430-20C>G rs760121969
NM_001128178.3(NPHP1):c.1430-20del
NM_001128178.3(NPHP1):c.1430-5A>G
NM_001128178.3(NPHP1):c.1430-8C>G rs750113370
NM_001128178.3(NPHP1):c.143G>A (p.Arg48Lys) rs779393628
NM_001128178.3(NPHP1):c.144-11T>C
NM_001128178.3(NPHP1):c.144-11T>G rs1448732187
NM_001128178.3(NPHP1):c.144-11del
NM_001128178.3(NPHP1):c.144-11dup rs762119782
NM_001128178.3(NPHP1):c.144-1G>A
NM_001128178.3(NPHP1):c.144-6A>G rs2104616583
NM_001128178.3(NPHP1):c.144-8T>C
NM_001128178.3(NPHP1):c.1441G>A (p.Val481Ile)
NM_001128178.3(NPHP1):c.1460C>A (p.Thr487Lys) rs1680806014
NM_001128178.3(NPHP1):c.1460C>T (p.Thr487Ile) rs1680806014
NM_001128178.3(NPHP1):c.1462A>G (p.Met488Val) rs373953762
NM_001128178.3(NPHP1):c.146G>A (p.Cys49Tyr)
NM_001128178.3(NPHP1):c.1470G>T (p.Arg490Ser) rs1680804337
NM_001128178.3(NPHP1):c.1474C>A (p.Pro492Thr)
NM_001128178.3(NPHP1):c.1475C>T (p.Pro492Leu)
NM_001128178.3(NPHP1):c.1479dup (p.Leu494fs)
NM_001128178.3(NPHP1):c.1485A>G (p.Leu495=) rs746027698
NM_001128178.3(NPHP1):c.1488G>C (p.Val496=)
NM_001128178.3(NPHP1):c.1492C>T (p.Leu498=)
NM_001128178.3(NPHP1):c.1493_1494del (p.Leu498fs) rs2104480049
NM_001128178.3(NPHP1):c.1503G>A (p.Leu501=)
NM_001128178.3(NPHP1):c.1521T>G (p.Asn507Lys) rs2104479969
NM_001128178.3(NPHP1):c.1522G>A (p.Val508Ile)
NM_001128178.3(NPHP1):c.1522G>C (p.Val508Leu) rs573192954
NM_001128178.3(NPHP1):c.1527A>G (p.Leu509=)
NM_001128178.3(NPHP1):c.1528A>T (p.Ser510Cys) rs995292402
NM_001128178.3(NPHP1):c.1529+13T>A
NM_001128178.3(NPHP1):c.1529+16T>C
NM_001128178.3(NPHP1):c.152A>C (p.Gln51Pro)
NM_001128178.3(NPHP1):c.1530-10del rs779032904
NM_001128178.3(NPHP1):c.1530-13dup
NM_001128178.3(NPHP1):c.1530-18T>C
NM_001128178.3(NPHP1):c.1530-20A>G rs773398593
NM_001128178.3(NPHP1):c.1530-4del rs757295724
NM_001128178.3(NPHP1):c.1536G>C (p.Leu512=)
NM_001128178.3(NPHP1):c.1548A>G (p.Leu516=)
NM_001128178.3(NPHP1):c.1551del (p.Ile517fs) rs1017750255
NM_001128178.3(NPHP1):c.1559T>A (p.Met520Lys) rs1318488822
NM_001128178.3(NPHP1):c.1559T>C (p.Met520Thr) rs1318488822
NM_001128178.3(NPHP1):c.1569T>C (p.Ile523=)
NM_001128178.3(NPHP1):c.1576T>C (p.Leu526=)
NM_001128178.3(NPHP1):c.1577T>G (p.Leu526Trp) rs1314119987
NM_001128178.3(NPHP1):c.1587T>C (p.Tyr529=) rs398123286
NM_001128178.3(NPHP1):c.1591C>G (p.Gln531Glu) rs1559045921
NM_001128178.3(NPHP1):c.1599T>A (p.Leu533=) rs2104437967
NM_001128178.3(NPHP1):c.1605T>C (p.Asp535=)
NM_001128178.3(NPHP1):c.161del (p.Gln54fs)
NM_001128178.3(NPHP1):c.1623G>A (p.Arg541=)
NM_001128178.3(NPHP1):c.1628_1635del (p.Ser543fs)
NM_001128178.3(NPHP1):c.162G>A (p.Gln54=)
NM_001128178.3(NPHP1):c.1630T>C (p.Leu544=)
NM_001128178.3(NPHP1):c.1638T>C (p.Ser546=)
NM_001128178.3(NPHP1):c.1641T>C (p.Thr547=)
NM_001128178.3(NPHP1):c.1642+10C>T
NM_001128178.3(NPHP1):c.1642+8G>T
NM_001128178.3(NPHP1):c.1642+9G>A
NM_001128178.3(NPHP1):c.1642+9G>C
NM_001128178.3(NPHP1):c.1643-14G>A
NM_001128178.3(NPHP1):c.1643-7A>T
NM_001128178.3(NPHP1):c.1643-8C>T
NM_001128178.3(NPHP1):c.1643-9G>T
NM_001128178.3(NPHP1):c.1647A>G (p.Leu549=)
NM_001128178.3(NPHP1):c.1652G>A (p.Ser551Asn)
NM_001128178.3(NPHP1):c.1659C>T (p.Pro553=)
NM_001128178.3(NPHP1):c.1660A>G (p.Met554Val) rs1679599536
NM_001128178.3(NPHP1):c.1666G>T (p.Ala556Ser) rs746510153
NM_001128178.3(NPHP1):c.1671C>T (p.Thr557=) rs2104428797
NM_001128178.3(NPHP1):c.1672T>C (p.Phe558Leu) rs2104428780
NM_001128178.3(NPHP1):c.1677C>T (p.Pro559=)
NM_001128178.3(NPHP1):c.1679T>G (p.Met560Arg)
NM_001128178.3(NPHP1):c.1689G>A (p.Glu563=)
NM_001128178.3(NPHP1):c.1693C>G (p.Pro565Ala) rs147090619
NM_001128178.3(NPHP1):c.1695T>C (p.Pro565=)
NM_001128178.3(NPHP1):c.1699G>A (p.Val567Met)
NM_001128178.3(NPHP1):c.16C>T (p.Gln6Ter)
NM_001128178.3(NPHP1):c.1716+10A>G
NM_001128178.3(NPHP1):c.1716+12G>T
NM_001128178.3(NPHP1):c.1716+17G>A
NM_001128178.3(NPHP1):c.1716+18C>T
NM_001128178.3(NPHP1):c.1716+20A>G
NM_001128178.3(NPHP1):c.1716+4G>A
NM_001128178.3(NPHP1):c.1716+5G>A
NM_001128178.3(NPHP1):c.1716+5G>T
NM_001128178.3(NPHP1):c.1717-12T>C
NM_001128178.3(NPHP1):c.1717-1G>T
NM_001128178.3(NPHP1):c.1717-6C>T
NM_001128178.3(NPHP1):c.1717-8C>T
NM_001128178.3(NPHP1):c.1722G>T (p.Ser574=)
NM_001128178.3(NPHP1):c.1725G>A (p.Trp575Ter) rs1679301117
NM_001128178.3(NPHP1):c.172G>T (p.Glu58Ter)
NM_001128178.3(NPHP1):c.1734A>G (p.Lys578=)
NM_001128178.3(NPHP1):c.1747A>G (p.Lys583Glu) rs1188653340
NM_001128178.3(NPHP1):c.1753T>C (p.Ser585Pro)
NM_001128178.3(NPHP1):c.1755A>C (p.Ser585=)
NM_001128178.3(NPHP1):c.1761+14C>T
NM_001128178.3(NPHP1):c.1761+15T>C
NM_001128178.3(NPHP1):c.1761+19C>T
NM_001128178.3(NPHP1):c.1761+20A>G
NM_001128178.3(NPHP1):c.1761+7T>C
NM_001128178.3(NPHP1):c.1762-12G>A
NM_001128178.3(NPHP1):c.1762-12G>C
NM_001128178.3(NPHP1):c.1762-15G>A rs1023737876
NM_001128178.3(NPHP1):c.1762-19G>T
NM_001128178.3(NPHP1):c.1762-1G>A rs2104409792
NM_001128178.3(NPHP1):c.1764A>G (p.Arg588=)
NM_001128178.3(NPHP1):c.1773G>A (p.Glu591=)
NM_001128178.3(NPHP1):c.1774T>C (p.Phe592Leu) rs1679177926
NM_001128178.3(NPHP1):c.1777del (p.Phe592_Leu593insTer)
NM_001128178.3(NPHP1):c.1784C>T (p.Ser595Phe)
NM_001128178.3(NPHP1):c.1788G>A (p.Thr596=)
NM_001128178.3(NPHP1):c.1788G>T (p.Thr596=)
NM_001128178.3(NPHP1):c.1805A>G (p.His602Arg)
NM_001128178.3(NPHP1):c.1806T>C (p.His602=)
NM_001128178.3(NPHP1):c.1807G>C (p.Asp603His) rs745639828
NM_001128178.3(NPHP1):c.1807G>T (p.Asp603Tyr) rs745639828
NM_001128178.3(NPHP1):c.1810T>G (p.Cys604Gly) rs2104409598
NM_001128178.3(NPHP1):c.1816C>T (p.Leu606Phe)
NM_001128178.3(NPHP1):c.1827C>T (p.Leu609=)
NM_001128178.3(NPHP1):c.182del (p.Asn61fs)
NM_001128178.3(NPHP1):c.1835C>T (p.Thr612Ile) rs2104409447
NM_001128178.3(NPHP1):c.1838G>A (p.Arg613His) rs566866150
NM_001128178.3(NPHP1):c.1838G>C (p.Arg613Pro)
NM_001128178.3(NPHP1):c.1839C>T (p.Arg613=)
NM_001128178.3(NPHP1):c.1842A>G (p.Leu614=)
NM_001128178.3(NPHP1):c.1845C>T (p.Pro615=) rs1559039003
NM_001128178.3(NPHP1):c.1847dup (p.Phe617fs)
NM_001128178.3(NPHP1):c.1848A>C (p.Pro616=)
NM_001128178.3(NPHP1):c.184G>A (p.Ala62Thr) rs886043591
NM_001128178.3(NPHP1):c.1854G>A (p.Arg618=)
NM_001128178.3(NPHP1):c.1863A>C (p.Glu621Asp)
NM_001128178.3(NPHP1):c.1866A>G (p.Glu622=)
NM_001128178.3(NPHP1):c.186T>C (p.Ala62=)
NM_001128178.3(NPHP1):c.1881A>G (p.Ala627=) rs1157663897
NM_001128178.3(NPHP1):c.1882C>A (p.Arg628=) rs141686332
NM_001128178.3(NPHP1):c.1882C>T (p.Arg628Trp) rs141686332
NM_001128178.3(NPHP1):c.1884G>A (p.Arg628=)
NM_001128178.3(NPHP1):c.1886_1893del (p.Trp629fs)
NM_001128178.3(NPHP1):c.1891G>T (p.Val631Phe)
NM_001128178.3(NPHP1):c.1897_1906del (p.Thr633fs)
NM_001128178.3(NPHP1):c.1899T>C (p.Thr633=) rs2104409055
NM_001128178.3(NPHP1):c.1923A>G (p.Glu641=)
NM_001128178.3(NPHP1):c.1926C>T (p.Asn642=)
NM_001128178.3(NPHP1):c.1929G>A (p.Gln643=) rs1553479835
NM_001128178.3(NPHP1):c.1933G>A (p.Ala645Thr) rs201077898
NM_001128178.3(NPHP1):c.1936C>T (p.Leu646Phe)
NM_001128178.3(NPHP1):c.1948C>T (p.Leu650=) rs935465878
NM_001128178.3(NPHP1):c.1950G>A (p.Leu650=) rs144850331
NM_001128178.3(NPHP1):c.1950G>C (p.Leu650=)
NM_001128178.3(NPHP1):c.1950G>T (p.Leu650=)
NM_001128178.3(NPHP1):c.1953A>T (p.Ser651=)
NM_001128178.3(NPHP1):c.1955C>T (p.Pro652Leu)
NM_001128178.3(NPHP1):c.1966C>T (p.His656Tyr) rs1679151001
NM_001128178.3(NPHP1):c.1977del (p.Phe659fs) rs1679148969
NM_001128178.3(NPHP1):c.1986A>G (p.Ser662=)
NM_001128178.3(NPHP1):c.1990dup (p.Gln664fs)
NM_001128178.3(NPHP1):c.1994C>T (p.Thr665Ile)
NM_001128178.3(NPHP1):c.1995C>T (p.Thr665=)
NM_001128178.3(NPHP1):c.1998T>C (p.Tyr666=)
NM_001128178.3(NPHP1):c.199A>G (p.Ser67Gly) rs1683747045
NM_001128178.3(NPHP1):c.19C>G (p.Arg7Gly)
NM_001128178.3(NPHP1):c.19C>T (p.Arg7Ter)
NM_001128178.3(NPHP1):c.200G>A (p.Ser67Asn) rs1206786239
NM_001128178.3(NPHP1):c.2017A>C (p.Arg673=)
NM_001128178.3(NPHP1):c.2019A>C (p.Arg673Ser) rs2104408356
NM_001128178.3(NPHP1):c.2031G>C (p.Val677=)
NM_001128178.3(NPHP1):c.204+13G>A
NM_001128178.3(NPHP1):c.204+13G>T
NM_001128178.3(NPHP1):c.205-12A>G
NM_001128178.3(NPHP1):c.205-21_205-20del
NM_001128178.3(NPHP1):c.205-4A>G
NM_001128178.3(NPHP1):c.205-9C>T rs765267939
NM_001128178.3(NPHP1):c.205G>C (p.Ala69Pro) rs753950057
NM_001128178.3(NPHP1):c.213A>G (p.Glu71=)
NM_001128178.3(NPHP1):c.220C>G (p.Pro74Ala)
NM_001128178.3(NPHP1):c.231C>G (p.Asn77Lys) rs1373708368
NM_001128178.3(NPHP1):c.231C>T (p.Asn77=)
NM_001128178.3(NPHP1):c.236A>T (p.Asn79Ile) rs2104612175
NM_001128178.3(NPHP1):c.249del (p.Glu84fs)
NM_001128178.3(NPHP1):c.255G>A (p.Glu85=)
NM_001128178.3(NPHP1):c.261T>C (p.Thr87=)
NM_001128178.3(NPHP1):c.263T>C (p.Leu88Pro)
NM_001128178.3(NPHP1):c.265_266del (p.Leu89fs)
NM_001128178.3(NPHP1):c.279C>G (p.Thr93=)
NM_001128178.3(NPHP1):c.285A>G (p.Gln95=)
NM_001128178.3(NPHP1):c.286C>T (p.Leu96=)
NM_001128178.3(NPHP1):c.288G>A (p.Leu96=) rs758059337
NM_001128178.3(NPHP1):c.28C>G (p.Leu10Val) rs1422250227
NM_001128178.3(NPHP1):c.291G>A (p.Gln97=) rs2104611813
NM_001128178.3(NPHP1):c.292G>C (p.Gly98Arg) rs1273570018
NM_001128178.3(NPHP1):c.304A>G (p.Thr102Ala) rs2104611760
NM_001128178.3(NPHP1):c.307A>C (p.Ile103Leu) rs778905635
NM_001128178.3(NPHP1):c.30C>G (p.Leu10=)
NM_001128178.3(NPHP1):c.327T>C (p.Thr109=)
NM_001128178.3(NPHP1):c.327T>G (p.Thr109=)
NM_001128178.3(NPHP1):c.329+13T>G
NM_001128178.3(NPHP1):c.329+17C>T
NM_001128178.3(NPHP1):c.329+18C>T
NM_001128178.3(NPHP1):c.329+19T>G
NM_001128178.3(NPHP1):c.330-11A>G
NM_001128178.3(NPHP1):c.330-20C>T rs1296325944
NM_001128178.3(NPHP1):c.330-4G>T rs774162169
NM_001128178.3(NPHP1):c.335G>A (p.Gly112Glu)
NM_001128178.3(NPHP1):c.337G>T (p.Ala113Ser) rs1683007830
NM_001128178.3(NPHP1):c.339A>T (p.Ala113=)
NM_001128178.3(NPHP1):c.343del (p.Thr115fs)
NM_001128178.3(NPHP1):c.352G>A (p.Glu118Lys) rs1408606648
NM_001128178.3(NPHP1):c.378T>G (p.Ser126Arg) rs1683002730
NM_001128178.3(NPHP1):c.37C>T (p.Leu13=)
NM_001128178.3(NPHP1):c.386G>C (p.Ser129Thr)
NM_001128178.3(NPHP1):c.389G>A (p.Gly130Asp) rs2104578629
NM_001128178.3(NPHP1):c.395A>G (p.Glu132Gly)
NM_001128178.3(NPHP1):c.396G>A (p.Glu132=)
NM_001128178.3(NPHP1):c.39G>A (p.Leu13=) rs1553498753
NM_001128178.3(NPHP1):c.404A>G (p.Asp135Gly) rs747176517
NM_001128178.3(NPHP1):c.410A>T (p.Glu137Val)
NM_001128178.3(NPHP1):c.411G>A (p.Glu137=)
NM_001128178.3(NPHP1):c.415G>C (p.Glu139Gln)
NM_001128178.3(NPHP1):c.415GAAGAG[1] (p.Glu141_Glu142del) rs777574728
NM_001128178.3(NPHP1):c.417A>G (p.Glu139=)
NM_001128178.3(NPHP1):c.439G>A (p.Glu147Lys) rs1011754227
NM_001128178.3(NPHP1):c.44G>T (p.Arg15Leu) rs774386187
NM_001128178.3(NPHP1):c.452G>C (p.Trp151Ser) rs894279022
NM_001128178.3(NPHP1):c.468A>G (p.Glu156=)
NM_001128178.3(NPHP1):c.471C>T (p.Tyr157=)
NM_001128178.3(NPHP1):c.472A>T (p.Ile158Phe)
NM_001128178.3(NPHP1):c.475G>T (p.Ala159Ser) rs372855293
NM_001128178.3(NPHP1):c.477T>G (p.Ala159=)
NM_001128178.3(NPHP1):c.482G>C (p.Gly161Ala)
NM_001128178.3(NPHP1):c.483del (p.Asp162fs) rs1410236296
NM_001128178.3(NPHP1):c.492T>C (p.Thr164=)
NM_001128178.3(NPHP1):c.49A>G (p.Asn17Asp)
NM_001128178.3(NPHP1):c.501A>G (p.Gln167=)
NM_001128178.3(NPHP1):c.522+11T>C
NM_001128178.3(NPHP1):c.522+1G>A
NM_001128178.3(NPHP1):c.522+1G>C
NM_001128178.3(NPHP1):c.522+20_522+21del
NM_001128178.3(NPHP1):c.522+4G>C
NM_001128178.3(NPHP1):c.522+5_522+8del rs1411070570
NM_001128178.3(NPHP1):c.522+8G>A
NM_001128178.3(NPHP1):c.523-11T>C
NM_001128178.3(NPHP1):c.523-13G>A
NM_001128178.3(NPHP1):c.523-14T>A
NM_001128178.3(NPHP1):c.523-17C>T rs2104573743
NM_001128178.3(NPHP1):c.523-18A>G
NM_001128178.3(NPHP1):c.523-2A>C
NM_001128178.3(NPHP1):c.526G>C (p.Gly176Arg)
NM_001128178.3(NPHP1):c.528G>A (p.Gly176=)
NM_001128178.3(NPHP1):c.528G>C (p.Gly176=) rs1682883111
NM_001128178.3(NPHP1):c.539T>C (p.Leu180Pro)
NM_001128178.3(NPHP1):c.545T>C (p.Ile182Thr)
NM_001128178.3(NPHP1):c.555del (p.Lys185fs) rs766524637
NM_001128178.3(NPHP1):c.555dup (p.Pro186fs) rs766524637
NM_001128178.3(NPHP1):c.560A>G (p.Asp187Gly)
NM_001128178.3(NPHP1):c.561T>C (p.Asp187=)
NM_001128178.3(NPHP1):c.562G>A (p.Gly188Ser) rs1682878259
NM_001128178.3(NPHP1):c.568T>C (p.Trp190Arg) rs1682877562
NM_001128178.3(NPHP1):c.582T>C (p.Asp194=)
NM_001128178.3(NPHP1):c.591A>G (p.Gly197=)
NM_001128178.3(NPHP1):c.594T>C (p.Asn198=)
NM_001128178.3(NPHP1):c.604G>T (p.Val202Phe)
NM_001128178.3(NPHP1):c.606T>C (p.Val202=)
NM_001128178.3(NPHP1):c.608C>G (p.Pro203Arg)
NM_001128178.3(NPHP1):c.617A>T (p.Tyr206Phe)
NM_001128178.3(NPHP1):c.624+10G>A
NM_001128178.3(NPHP1):c.624+11del rs763000358
NM_001128178.3(NPHP1):c.624+14T>A
NM_001128178.3(NPHP1):c.624+17G>T
NM_001128178.3(NPHP1):c.624+18C>G
NM_001128178.3(NPHP1):c.625-8T>C
NM_001128178.3(NPHP1):c.629A>G (p.Tyr210Cys) rs1273893174
NM_001128178.3(NPHP1):c.635AAG[5] (p.Glu215dup) rs777677768
NM_001128178.3(NPHP1):c.639A>G (p.Glu213=)
NM_001128178.3(NPHP1):c.644_645delinsGC (p.Glu215Gly) rs1682631627
NM_001128178.3(NPHP1):c.64C>T (p.Gln22Ter)
NM_001128178.3(NPHP1):c.669C>A (p.Gly223=)
NM_001128178.3(NPHP1):c.669C>T (p.Gly223=) rs886054755
NM_001128178.3(NPHP1):c.670A>G (p.Ser224Gly) rs2104562029
NM_001128178.3(NPHP1):c.678A>C (p.Glu226Asp) rs947765689
NM_001128178.3(NPHP1):c.67C>T (p.Gln23Ter)
NM_001128178.3(NPHP1):c.681T>G (p.Asp227Glu) rs2104561993
NM_001128178.3(NPHP1):c.684A>G (p.Val228=) rs138705625
NM_001128178.3(NPHP1):c.68A>T (p.Gln23Leu)
NM_001128178.3(NPHP1):c.69+11G>A
NM_001128178.3(NPHP1):c.69+14G>A
NM_001128178.3(NPHP1):c.69+15T>C
NM_001128178.3(NPHP1):c.69+18del
NM_001128178.3(NPHP1):c.69+1del
NM_001128178.3(NPHP1):c.69+7T>C
NM_001128178.3(NPHP1):c.69+8C>T
NM_001128178.3(NPHP1):c.695A>T (p.Asp232Val)
NM_001128178.3(NPHP1):c.70-1G>T
NM_001128178.3(NPHP1):c.70-8C>T rs370573707
NM_001128178.3(NPHP1):c.70-9T>C
NM_001128178.3(NPHP1):c.706G>C (p.Asp236His) rs2104561811
NM_001128178.3(NPHP1):c.714A>G (p.Ala238=)
NM_001128178.3(NPHP1):c.720T>C (p.Val240=)
NM_001128178.3(NPHP1):c.720T>G (p.Val240=)
NM_001128178.3(NPHP1):c.722A>C (p.Lys241Thr)
NM_001128178.3(NPHP1):c.728+17G>A
NM_001128178.3(NPHP1):c.728+18G>C
NM_001128178.3(NPHP1):c.728+8del rs863224357
NM_001128178.3(NPHP1):c.728+9G>A rs1280756117
NM_001128178.3(NPHP1):c.728+9G>C
NM_001128178.3(NPHP1):c.729-11dup
NM_001128178.3(NPHP1):c.729-15A>G
NM_001128178.3(NPHP1):c.729-1G>C
NM_001128178.3(NPHP1):c.729-4C>G rs1682596294
NM_001128178.3(NPHP1):c.735T>C (p.Asp245=)
NM_001128178.3(NPHP1):c.735del (p.His247fs)
NM_001128178.3(NPHP1):c.736C>T (p.Pro246Ser) rs2104560350
NM_001128178.3(NPHP1):c.739del (p.His247fs)
NM_001128178.3(NPHP1):c.757A>G (p.Lys253Glu)
NM_001128178.3(NPHP1):c.770A>T (p.Glu257Val) rs1291806248
NM_001128178.3(NPHP1):c.771+101C>G rs1352920059
NM_001128178.3(NPHP1):c.771+102A>T
NM_001128178.3(NPHP1):c.771+104G>C
NM_001128178.3(NPHP1):c.771+108C>T
NM_001128178.3(NPHP1):c.771+111G>A rs2104559507
NM_001128178.3(NPHP1):c.771+124C>T
NM_001128178.3(NPHP1):c.771+130A>T
NM_001128178.3(NPHP1):c.771+136C>A rs142670785
NM_001128178.3(NPHP1):c.771+136C>T
NM_001128178.3(NPHP1):c.771+145C>T
NM_001128178.3(NPHP1):c.771+158C>T rs2104559150
NM_001128178.3(NPHP1):c.771+172A>C
NM_001128178.3(NPHP1):c.771+178C>G
NM_001128178.3(NPHP1):c.771+178C>T rs767903893
NM_001128178.3(NPHP1):c.771+180C>T
NM_001128178.3(NPHP1):c.771+182T>G
NM_001128178.3(NPHP1):c.771+185_771+186insA rs1682570213
NM_001128178.3(NPHP1):c.771+186T>A
NM_001128178.3(NPHP1):c.771+186T>C
NM_001128178.3(NPHP1):c.771+187_771+188insG
NM_001128178.3(NPHP1):c.771+188T>G rs2104558917
NM_001128178.3(NPHP1):c.771+23A>C
NM_001128178.3(NPHP1):c.771+24T>C
NM_001128178.3(NPHP1):c.771+26A>G
NM_001128178.3(NPHP1):c.771+27T>C
NM_001128178.3(NPHP1):c.771+3G>T
NM_001128178.3(NPHP1):c.771+52C>G
NM_001128178.3(NPHP1):c.771+54G>A
NM_001128178.3(NPHP1):c.771+58C>A rs367600757
NM_001128178.3(NPHP1):c.771+58C>T
NM_001128178.3(NPHP1):c.771+65G>A rs2104559817
NM_001128178.3(NPHP1):c.771+65G>T
NM_001128178.3(NPHP1):c.771+66G>A
NM_001128178.3(NPHP1):c.771+75T>C
NM_001128178.3(NPHP1):c.771+76G>A rs772549591
NM_001128178.3(NPHP1):c.771+77_771+78del rs1682584195
NM_001128178.3(NPHP1):c.772-5T>C rs201478764
NM_001128178.3(NPHP1):c.772-8G>A
NM_001128178.3(NPHP1):c.775A>G (p.Ile259Val)
NM_001128178.3(NPHP1):c.77_143+140del
NM_001128178.3(NPHP1):c.77dup (p.Ser26fs)
NM_001128178.3(NPHP1):c.780C>T (p.Asn260=)
NM_001128178.3(NPHP1):c.789T>C (p.Asp263=)
NM_001128178.3(NPHP1):c.792G>A (p.Val264=)
NM_001128178.3(NPHP1):c.804G>A (p.Met268Ile)
NM_001128178.3(NPHP1):c.812_813insA (p.Pro272fs) rs2104553788
NM_001128178.3(NPHP1):c.822G>T (p.Gly274=)
NM_001128178.3(NPHP1):c.834C>T (p.Ser278=)
NM_001128178.3(NPHP1):c.837G>A (p.Thr279=)
NM_001128178.3(NPHP1):c.840C>T (p.Leu280=)
NM_001128178.3(NPHP1):c.843A>G (p.Ser281=)
NM_001128178.3(NPHP1):c.843dup (p.Gln282fs)
NM_001128178.3(NPHP1):c.844C>T (p.Gln282Ter) rs1328879943
NM_001128178.3(NPHP1):c.845A>G (p.Gln282Arg)
NM_001128178.3(NPHP1):c.845A>T (p.Gln282Leu)
NM_001128178.3(NPHP1):c.847C>G (p.Leu283Val) rs757063331
NM_001128178.3(NPHP1):c.84_87del (p.Ser29fs)
NM_001128178.3(NPHP1):c.859+18G>T
NM_001128178.3(NPHP1):c.859+7C>T
NM_001128178.3(NPHP1):c.859+8G>A rs765856771
NM_001128178.3(NPHP1):c.859+8G>C rs765856771
NM_001128178.3(NPHP1):c.860-11G>T
NM_001128178.3(NPHP1):c.860-12T>C rs1326341540
NM_001128178.3(NPHP1):c.860-19G>A
NM_001128178.3(NPHP1):c.860-2A>G
NM_001128178.3(NPHP1):c.882C>T (p.Tyr294=) rs369977541
NM_001128178.3(NPHP1):c.883T>G (p.Phe295Val) rs2104548598
NM_001128178.3(NPHP1):c.890A>G (p.Gln297Arg) rs747172399
NM_001128178.3(NPHP1):c.894A>G (p.Pro298=)
NM_001128178.3(NPHP1):c.897G>A (p.Glu299=) rs1277227397
NM_001128178.3(NPHP1):c.8C>G (p.Ala3Gly) rs1685843048
NM_001128178.3(NPHP1):c.900C>T (p.Leu300=)
NM_001128178.3(NPHP1):c.90G>A (p.Glu30=)
NM_001128178.3(NPHP1):c.910C>A (p.Gln304Lys) rs1335925956
NM_001128178.3(NPHP1):c.913C>G (p.Leu305Val) rs748446911
NM_001128178.3(NPHP1):c.916G>T (p.Ala306Ser)
NM_001128178.3(NPHP1):c.924A>G (p.Arg308=)
NM_001128178.3(NPHP1):c.937G>T (p.Asp313Tyr)
NM_001128178.3(NPHP1):c.937del (p.Asp313fs) rs2104548314
NM_001128178.3(NPHP1):c.942T>G (p.Ala314=)
NM_001128178.3(NPHP1):c.954+11T>A
NM_001128178.3(NPHP1):c.954+11T>G
NM_001128178.3(NPHP1):c.954+16A>G
NM_001128178.3(NPHP1):c.954+17T>A
NM_001128178.3(NPHP1):c.954+17T>G
NM_001128178.3(NPHP1):c.954+5G>T rs1242271896
NM_001128178.3(NPHP1):c.955-12T>C
NM_001128178.3(NPHP1):c.955-14A>G
NM_001128178.3(NPHP1):c.955-15T>C
NM_001128178.3(NPHP1):c.955-15T>G
NM_001128178.3(NPHP1):c.959G>A (p.Arg320Lys)
NM_001128178.3(NPHP1):c.960G>A (p.Arg320=)
NM_001128178.3(NPHP1):c.962C>T (p.Ser321Leu)
NM_001128178.3(NPHP1):c.976A>G (p.Ile326Val)
NM_001128178.3(NPHP1):c.97C>T (p.Leu33=)
NM_001128178.3(NPHP1):c.983T>C (p.Leu328Ser)
NM_001128178.3(NPHP1):c.986T>C (p.Ile329Thr) rs794727018
NM_001128178.3(NPHP1):c.993A>G (p.Thr331=)
NM_001128178.3(NPHP1):c.994T>C (p.Leu332=)
NM_001128178.3(NPHP1):c.995T>G (p.Leu332Ter)
NM_001128178.3(NPHP1):c.996A>G (p.Leu332=)
NM_001128178.3(NPHP1):c.998G>A (p.Trp333Ter)
NM_001128178.3(NPHP1):c.9G>T (p.Ala3=)
NM_014425.5(INVS):c.1002T>C (p.Ser334=)
NM_014425.5(INVS):c.1005T>C (p.Asp335=)
NM_014425.5(INVS):c.1006G>A (p.Asp336Asn) rs760384200
NM_014425.5(INVS):c.1011C>T (p.Val337=)
NM_014425.5(INVS):c.1022T>G (p.Met341Arg) rs1397165748
NM_014425.5(INVS):c.1037C>A (p.Ser346Ter)
NM_014425.5(INVS):c.1041C>T (p.Asp347=)
NM_014425.5(INVS):c.104T>C (p.Val35Ala)
NM_014425.5(INVS):c.106+14_106+15insAC
NM_014425.5(INVS):c.106+15T>G
NM_014425.5(INVS):c.106+17A>T
NM_014425.5(INVS):c.106+18G>A
NM_014425.5(INVS):c.106+19dup rs1564114408
NM_014425.5(INVS):c.106+20A>G
NM_014425.5(INVS):c.106+3A>C rs1827113455
NM_014425.5(INVS):c.106+6C>T rs1196750401
NM_014425.5(INVS):c.106+7A>G
NM_014425.5(INVS):c.1068T>C (p.Tyr356=)
NM_014425.5(INVS):c.107-17G>A
NM_014425.5(INVS):c.107-1G>A
NM_014425.5(INVS):c.107-9T>A
NM_014425.5(INVS):c.107-9T>C
NM_014425.5(INVS):c.1078+10G>T
NM_014425.5(INVS):c.1078+11G>A
NM_014425.5(INVS):c.1078+15A>G
NM_014425.5(INVS):c.1078+18C>T
NM_014425.5(INVS):c.1078+19A>G
NM_014425.5(INVS):c.1078+3GA[3]
NM_014425.5(INVS):c.1078+6_1078+9dup rs1431121294
NM_014425.5(INVS):c.1078+9T>C
NM_014425.5(INVS):c.1079-10T>A
NM_014425.5(INVS):c.1079-12G>T
NM_014425.5(INVS):c.1079-13G>T
NM_014425.5(INVS):c.1079-6T>C
NM_014425.5(INVS):c.1099T>C (p.Ser367Pro)
NM_014425.5(INVS):c.1113C>T (p.Ser371=) rs2118558999
NM_014425.5(INVS):c.1128A>T (p.Leu376Phe) rs2118559115
NM_014425.5(INVS):c.1135A>G (p.Asn379Asp) rs1832262518
NM_014425.5(INVS):c.1140T>C (p.Asn380=)
NM_014425.5(INVS):c.1162_1163del (p.Val388fs)
NM_014425.5(INVS):c.1171C>T (p.His391Tyr) rs1181379253
NM_014425.5(INVS):c.1174A>G (p.Thr392Ala)
NM_014425.5(INVS):c.1189G>A (p.Ala397Thr)
NM_014425.5(INVS):c.118C>T (p.Leu40Phe) rs148219510
NM_014425.5(INVS):c.1200G>A (p.Met400Ile)
NM_014425.5(INVS):c.1208A>G (p.Lys403Arg) rs1564176658
NM_014425.5(INVS):c.1211del (p.Asp404fs)
NM_014425.5(INVS):c.1223C>T (p.Thr408Ile)
NM_014425.5(INVS):c.1234+13G>A
NM_014425.5(INVS):c.1234+15G>A
NM_014425.5(INVS):c.1234+15G>C
NM_014425.5(INVS):c.1234+17A>T
NM_014425.5(INVS):c.1234+18C>T
NM_014425.5(INVS):c.1234+19T>C
NM_014425.5(INVS):c.1234+2T>A
NM_014425.5(INVS):c.1234+2T>G
NM_014425.5(INVS):c.1234+4G>C
NM_014425.5(INVS):c.1234+7T>C
NM_014425.5(INVS):c.1235-10G>A
NM_014425.5(INVS):c.1235-12G>A
NM_014425.5(INVS):c.1235-19_1235-17del
NM_014425.5(INVS):c.1235-4C>G
NM_014425.5(INVS):c.1252C>T (p.Leu418=)
NM_014425.5(INVS):c.1254A>G (p.Leu418=)
NM_014425.5(INVS):c.1255G>C (p.Val419Leu) rs2118562526
NM_014425.5(INVS):c.1257T>C (p.Val419=)
NM_014425.5(INVS):c.1266T>C (p.Asp422=)
NM_014425.5(INVS):c.1269A>T (p.Gly423=)
NM_014425.5(INVS):c.1272T>C (p.His424=) rs2118562757
NM_014425.5(INVS):c.1275T>C (p.Ser425=)
NM_014425.5(INVS):c.127_129del (p.Lys43del) rs757721719
NM_014425.5(INVS):c.1297G>A (p.Gly433Arg) rs2118562856
NM_014425.5(INVS):c.1308T>G (p.Ala436=)
NM_014425.5(INVS):c.1315T>G (p.Cys439Gly)
NM_014425.5(INVS):c.1317C>A (p.Cys439Ter)
NM_014425.5(INVS):c.1321A>C (p.Ile441Leu) rs1832286801
NM_014425.5(INVS):c.132A>G (p.Glu44=)
NM_014425.5(INVS):c.1342A>G (p.Asn448Asp) rs2118563086
NM_014425.5(INVS):c.1344T>C (p.Asn448=)
NM_014425.5(INVS):c.1345C>T (p.Pro449Ser) rs753443905
NM_014425.5(INVS):c.1346C>T (p.Pro449Leu) rs1832287614
NM_014425.5(INVS):c.1347A>T (p.Pro449=)
NM_014425.5(INVS):c.1353C>A (p.Val451=) rs1488900404
NM_014425.5(INVS):c.1353C>T (p.Val451=)
NM_014425.5(INVS):c.1354C>T (p.Gln452Ter)
NM_014425.5(INVS):c.1355A>C (p.Gln452Pro) rs2118563198
NM_014425.5(INVS):c.1356G>A (p.Gln452=)
NM_014425.5(INVS):c.1367del (p.Gly456fs)
NM_014425.5(INVS):c.1378T>C (p.Leu460=)
NM_014425.5(INVS):c.1392A>C (p.Ala464=) rs1312406580
NM_014425.5(INVS):c.1392A>G (p.Ala464=)
NM_014425.5(INVS):c.1392A>T (p.Ala464=)
NM_014425.5(INVS):c.1396G>A (p.Gly466Arg) rs1554726564
NM_014425.5(INVS):c.1399G>C (p.Gly467Arg) rs2118563520
NM_014425.5(INVS):c.1401C>T (p.Gly467=) rs1377027576
NM_014425.5(INVS):c.1407C>T (p.Ile469=)
NM_014425.5(INVS):c.1413C>A (p.Cys471Ter)
NM_014425.5(INVS):c.1413C>T (p.Cys471=)
NM_014425.5(INVS):c.1420G>A (p.Val474Ile)
NM_014425.5(INVS):c.1422T>C (p.Val474=)
NM_014425.5(INVS):c.1423C>T (p.Leu475Phe)
NM_014425.5(INVS):c.1429G>A (p.Glu477Lys) rs1832291428
NM_014425.5(INVS):c.1440A>G (p.Ala480=)
NM_014425.5(INVS):c.1461A>G (p.Lys487=)
NM_014425.5(INVS):c.1464+12G>A
NM_014425.5(INVS):c.1464+1G>A rs375753623
NM_014425.5(INVS):c.1464+1G>T rs375753623
NM_014425.5(INVS):c.1465-14G>A
NM_014425.5(INVS):c.1465-19T>C
NM_014425.5(INVS):c.1465G>T (p.Gly489Ter)
NM_014425.5(INVS):c.1466G>A (p.Gly489Glu) rs1015507237
NM_014425.5(INVS):c.1473A>G (p.Thr491=)
NM_014425.5(INVS):c.1478T>C (p.Leu493Ser) rs121964995
NM_014425.5(INVS):c.1479G>C (p.Leu493Phe)
NM_014425.5(INVS):c.1492A>T (p.Asn498Tyr) rs1832737510
NM_014425.5(INVS):c.1494C>T (p.Asn498=)
NM_014425.5(INVS):c.1496A>G (p.Asn499Ser) rs1564182761
NM_014425.5(INVS):c.1497T>C (p.Asn499=)
NM_014425.5(INVS):c.149C>T (p.Thr50Ile)
NM_014425.5(INVS):c.1503C>G (p.Tyr501Ter)
NM_014425.5(INVS):c.1506T>C (p.Leu502=)
NM_014425.5(INVS):c.1508A>T (p.Asp503Val) rs1832737838
NM_014425.5(INVS):c.1536T>C (p.Ala512=)
NM_014425.5(INVS):c.153A>G (p.Pro51=) rs1348116871
NM_014425.5(INVS):c.1544C>T (p.Pro515Leu) rs1173094879
NM_014425.5(INVS):c.1547A>G (p.Asn516Ser)
NM_014425.5(INVS):c.1548T>G (p.Asn516Lys)
NM_014425.5(INVS):c.1560C>T (p.Asn520=) rs201691547
NM_014425.5(INVS):c.1561A>C (p.Asn521His) rs2118629746
NM_014425.5(INVS):c.1566_1567AG[4] (p.Tyr525fs)
NM_014425.5(INVS):c.1571+15A>G
NM_014425.5(INVS):c.1571+17T>A
NM_014425.5(INVS):c.1571+2dup rs1554728033
NM_014425.5(INVS):c.1571+5G>A rs1832740394
NM_014425.5(INVS):c.1571+9_1571+10insG
NM_014425.5(INVS):c.1572-12C>T
NM_014425.5(INVS):c.1572-16C>A
NM_014425.5(INVS):c.1576A>G (p.Thr526Ala) rs1050540680
NM_014425.5(INVS):c.1578A>G (p.Thr526=)
NM_014425.5(INVS):c.1579C>A (p.Pro527Thr)
NM_014425.5(INVS):c.1581C>T (p.Pro527=)
NM_014425.5(INVS):c.1584T>A (p.Leu528=) rs1832998425
NM_014425.5(INVS):c.158T>C (p.Met53Thr) rs748223529
NM_014425.5(INVS):c.1590T>C (p.Tyr530=)
NM_014425.5(INVS):c.1599T>C (p.Leu533=)
NM_014425.5(INVS):c.1604A>G (p.Glu535Gly) rs1832999071
NM_014425.5(INVS):c.1608C>A (p.Arg536=)
NM_014425.5(INVS):c.162T>C (p.Tyr54=)
NM_014425.5(INVS):c.1630T>C (p.Leu544=) rs1441867275
NM_014425.5(INVS):c.1632G>A (p.Leu544=)
NM_014425.5(INVS):c.1638C>T (p.His546=) rs758665047
NM_014425.5(INVS):c.1639G>A (p.Gly547Ser) rs368682890
NM_014425.5(INVS):c.1641T>C (p.Gly547=)
NM_014425.5(INVS):c.1659C>T (p.Ala553=)
NM_014425.5(INVS):c.165C>T (p.Cys55=)
NM_014425.5(INVS):c.1663C>T (p.Gln555Ter)
NM_014425.5(INVS):c.1667A>C (p.Asp556Ala)
NM_014425.5(INVS):c.1670T>G (p.Ile557Ser) rs1833001296
NM_014425.5(INVS):c.1672G>A (p.Ala558Thr)
NM_014425.5(INVS):c.1674C>A (p.Ala558=) rs143140689
NM_014425.5(INVS):c.1674C>T (p.Ala558=)
NM_014425.5(INVS):c.1683A>G (p.Lys561=)
NM_014425.5(INVS):c.1690del (p.Ala564fs)
NM_014425.5(INVS):c.1695C>G (p.Val565=)
NM_014425.5(INVS):c.1698C>T (p.Tyr566=) rs2118669089
NM_014425.5(INVS):c.1710G>A (p.Lys570=) rs750545598
NM_014425.5(INVS):c.1712T>C (p.Val571Ala) rs1236753815
NM_014425.5(INVS):c.1717A>T (p.Lys573Ter)
NM_014425.5(INVS):c.1726C>T (p.Arg576Ter)
NM_014425.5(INVS):c.1731C>T (p.Asp577=)
NM_014425.5(INVS):c.1758A>G (p.Glu586=)
NM_014425.5(INVS):c.1760del (p.Gln587fs) rs1833004339
NM_014425.5(INVS):c.1765A>C (p.Arg589=)
NM_014425.5(INVS):c.1773T>C (p.Asp591=)
NM_014425.5(INVS):c.1774G>C (p.Ala592Pro)
NM_014425.5(INVS):c.177_180dup (p.Leu61fs) rs1564123602
NM_014425.5(INVS):c.1784+10A>G
NM_014425.5(INVS):c.1784+15C>T
NM_014425.5(INVS):c.1784+16G>A
NM_014425.5(INVS):c.1784+19G>A
NM_014425.5(INVS):c.1784+6T>C
NM_014425.5(INVS):c.1784+8T>C rs781669059
NM_014425.5(INVS):c.1784+8T>G rs781669059
NM_014425.5(INVS):c.1784A>C (p.Lys595Thr) rs2118669515
NM_014425.5(INVS):c.1785-14G>A rs2118724157
NM_014425.5(INVS):c.1785-18C>G
NM_014425.5(INVS):c.1785-20T>C
NM_014425.5(INVS):c.178A>G (p.Arg60Gly) rs886038603
NM_014425.5(INVS):c.1790G>A (p.Arg597Gln) rs1291135236
NM_014425.5(INVS):c.1793_1794del (p.Glu598fs)
NM_014425.5(INVS):c.1808G>A (p.Arg603Gln) rs372596288
NM_014425.5(INVS):c.1811_1812del (p.Lys604fs) rs1588145141
NM_014425.5(INVS):c.1812del (p.Glu605fs)
NM_014425.5(INVS):c.1818A>C (p.Ala606=)
NM_014425.5(INVS):c.1821A>G (p.Glu607=)
NM_014425.5(INVS):c.1822del (p.Gln608fs)
NM_014425.5(INVS):c.1833A>G (p.Gly611=)
NM_014425.5(INVS):c.1834A>C (p.Arg612=)
NM_014425.5(INVS):c.1836G>A (p.Arg612=) rs1442102915
NM_014425.5(INVS):c.1837C>A (p.Arg613=)
NM_014425.5(INVS):c.1837C>T (p.Arg613Trp) rs529208660
NM_014425.5(INVS):c.1854C>T (p.Cys618=)
NM_014425.5(INVS):c.1865C>T (p.Ala622Val)
NM_014425.5(INVS):c.186T>C (p.Asp62=)
NM_014425.5(INVS):c.1882A>T (p.Ser628Cys)
NM_014425.5(INVS):c.1884C>T (p.Ser628=)
NM_014425.5(INVS):c.1896G>A (p.Val632=) rs746617240
NM_014425.5(INVS):c.1903A>G (p.Arg635Gly)
NM_014425.5(INVS):c.1906C>T (p.Gln636Ter)
NM_014425.5(INVS):c.1908G>A (p.Gln636=) rs1205359268
NM_014425.5(INVS):c.1911C>T (p.Ser637=)
NM_014425.5(INVS):c.1920C>G (p.Pro640=)
NM_014425.5(INVS):c.1926G>A (p.Lys642=)
NM_014425.5(INVS):c.1941C>T (p.Gly647=)
NM_014425.5(INVS):c.194A>G (p.Asp65Gly)
NM_014425.5(INVS):c.1950C>G (p.Ala650=)
NM_014425.5(INVS):c.1950C>T (p.Ala650=) rs1833373353
NM_014425.5(INVS):c.1986A>G (p.Pro662=) rs1176710652
NM_014425.5(INVS):c.1990G>A (p.Gly664Arg) rs1397635177
NM_014425.5(INVS):c.1994C>G (p.Ser665Cys) rs533008444
NM_014425.5(INVS):c.1994C>T (p.Ser665Phe) rs533008444
NM_014425.5(INVS):c.1996C>T (p.Leu666=) rs772048589
NM_014425.5(INVS):c.2001C>A (p.Gly667=)
NM_014425.5(INVS):c.2002G>A (p.Gly668Arg) rs764384987
NM_014425.5(INVS):c.2002G>T (p.Gly668Ter) rs764384987
NM_014425.5(INVS):c.2008C>T (p.Leu670Phe) rs754291892
NM_014425.5(INVS):c.2010C>T (p.Leu670=)
NM_014425.5(INVS):c.2012del (p.Gln671fs)
NM_014425.5(INVS):c.2027T>A (p.Val676Asp) rs967224963
NM_014425.5(INVS):c.2029T>G (p.Ser677Ala)
NM_014425.5(INVS):c.2046A>C (p.Gly682=)
NM_014425.5(INVS):c.2049A>T (p.Thr683=)
NM_014425.5(INVS):c.2056A>T (p.Arg686Ter) rs150001738
NM_014425.5(INVS):c.2065A>C (p.Asn689His) rs1355652364
NM_014425.5(INVS):c.2068+10T>C
NM_014425.5(INVS):c.2068+11T>C
NM_014425.5(INVS):c.2068+14C>T
NM_014425.5(INVS):c.2068+19T>A
NM_014425.5(INVS):c.2068+7G>A
NM_014425.5(INVS):c.2068+7G>T
NM_014425.5(INVS):c.2069-11G>A
NM_014425.5(INVS):c.2069-11G>C
NM_014425.5(INVS):c.2069-18T>C
NM_014425.5(INVS):c.2069-18_2069-16del rs577372332
NM_014425.5(INVS):c.2069-1G>T
NM_014425.5(INVS):c.2069-8del
NM_014425.5(INVS):c.2073A>G (p.Thr691=)
NM_014425.5(INVS):c.2088T>C (p.Ser696=)
NM_014425.5(INVS):c.2098T>C (p.Ser700Pro) rs1833645195
NM_014425.5(INVS):c.2102C>G (p.Ala701Gly)
NM_014425.5(INVS):c.2116del (p.Arg706fs)
NM_014425.5(INVS):c.2119C>T (p.Pro707Ser)
NM_014425.5(INVS):c.2123A>G (p.Asn708Ser) rs770047072
NM_014425.5(INVS):c.2143A>G (p.Arg715Gly) rs766691188
NM_014425.5(INVS):c.2149C>A (p.Pro717Thr)
NM_014425.5(INVS):c.2152G>C (p.Gly718Arg) rs1554730698
NM_014425.5(INVS):c.2160C>G (p.Pro720=)
NM_014425.5(INVS):c.2160del (p.Ser721fs)
NM_014425.5(INVS):c.2173T>C (p.Ser725Pro)
NM_014425.5(INVS):c.2185A>C (p.Thr729Pro)
NM_014425.5(INVS):c.2185A>G (p.Thr729Ala)
NM_014425.5(INVS):c.2193C>A (p.Gly731=) rs148758887
NM_014425.5(INVS):c.2202G>T (p.Arg734=)
NM_014425.5(INVS):c.2208A>G (p.Ala736=) rs2118761192
NM_014425.5(INVS):c.2219G>T (p.Gly740Val)
NM_014425.5(INVS):c.2223C>T (p.Phe741=)
NM_014425.5(INVS):c.2225dup (p.Lys743fs)
NM_014425.5(INVS):c.2230C>T (p.Gln744Ter)
NM_014425.5(INVS):c.2232G>C (p.Gln744His) rs748241492
NM_014425.5(INVS):c.2240G>A (p.Cys747Tyr)
NM_014425.5(INVS):c.2254G>A (p.Gly752Arg)
NM_014425.5(INVS):c.2283G>A (p.Arg761=)
NM_014425.5(INVS):c.2284C>A (p.Arg762=)
NM_014425.5(INVS):c.2286G>A (p.Arg762=)
NM_014425.5(INVS):c.2299C>T (p.Leu767Phe)
NM_014425.5(INVS):c.2299dup (p.Leu767fs)
NM_014425.5(INVS):c.2306C>T (p.Pro769Leu)
NM_014425.5(INVS):c.2322G>A (p.Trp774Ter)
NM_014425.5(INVS):c.2328C>G (p.Pro776=)
NM_014425.5(INVS):c.2334G>A (p.Arg778=)
NM_014425.5(INVS):c.2334G>C (p.Arg778Ser)
NM_014425.5(INVS):c.2340T>A (p.His780Gln)
NM_014425.5(INVS):c.234C>T (p.Asp78=)
NM_014425.5(INVS):c.2350C>T (p.Pro784Ser) rs772382992
NM_014425.5(INVS):c.2351C>T (p.Pro784Leu) rs1401794025
NM_014425.5(INVS):c.2361A>G (p.Lys787=)
NM_014425.5(INVS):c.2367C>A (p.Ala789=)
NM_014425.5(INVS):c.2370C>G (p.Pro790=)
NM_014425.5(INVS):c.2372dup (p.Lys792fs) rs2118762244
NM_014425.5(INVS):c.2385T>A (p.Thr795=)
NM_014425.5(INVS):c.239G>A (p.Ser80Asn) rs1231356870
NM_014425.5(INVS):c.2412T>G (p.Ser804=) rs2787374
NM_014425.5(INVS):c.2414C>T (p.Pro805Leu) rs750979976
NM_014425.5(INVS):c.2415G>A (p.Pro805=) rs192492227
NM_014425.5(INVS):c.2415G>T (p.Pro805=)
NM_014425.5(INVS):c.2418T>G (p.Ala806=)
NM_014425.5(INVS):c.2424T>C (p.Ser808=)
NM_014425.5(INVS):c.2436C>T (p.Gly812=)
NM_014425.5(INVS):c.2445G>A (p.Arg815=)
NM_014425.5(INVS):c.2447G>T (p.Gly816Val)
NM_014425.5(INVS):c.2449del (p.Glu817fs)
NM_014425.5(INVS):c.2449dup (p.Glu817fs)
NM_014425.5(INVS):c.2457C>A (p.Val819=)
NM_014425.5(INVS):c.245del (p.Arg82fs)
NM_014425.5(INVS):c.2460T>C (p.His820=)
NM_014425.5(INVS):c.2463T>C (p.Ala821=)
NM_014425.5(INVS):c.2466G>C (p.Gly822=)
NM_014425.5(INVS):c.2489C>T (p.Thr830Ile) rs886063270
NM_014425.5(INVS):c.2501_2502del (p.Lys834fs) rs777723411
NM_014425.5(INVS):c.2509C>T (p.Gln837Ter) rs755549444
NM_014425.5(INVS):c.2514C>T (p.Ala838=)
NM_014425.5(INVS):c.2522C>G (p.Thr841Arg) rs1833665476
NM_014425.5(INVS):c.2523A>G (p.Thr841=)
NM_014425.5(INVS):c.2530C>T (p.Leu844Phe) rs2118763419
NM_014425.5(INVS):c.2532C>T (p.Leu844=)
NM_014425.5(INVS):c.2540A>G (p.His847Arg)
NM_014425.5(INVS):c.2543T>C (p.Leu848Ser) rs2118763519
NM_014425.5(INVS):c.2544G>A (p.Leu848=)
NM_014425.5(INVS):c.2557GAG[1] (p.Glu854del)
NM_014425.5(INVS):c.2563T>C (p.Leu855=)
NM_014425.5(INVS):c.2565G>A (p.Leu855=)
NM_014425.5(INVS):c.256C>G (p.His86Asp)
NM_014425.5(INVS):c.2576C>G (p.Ala859Gly)
NM_014425.5(INVS):c.2577T>G (p.Ala859=) rs2118763681
NM_014425.5(INVS):c.2582G>C (p.Arg861Thr) rs760537423
NM_014425.5(INVS):c.2584C>T (p.Leu862=)
NM_014425.5(INVS):c.2592A>G (p.Thr864=)
NM_014425.5(INVS):c.2595T>G (p.Ser865=)
NM_014425.5(INVS):c.2604C>G (p.Ser868=)
NM_014425.5(INVS):c.2605G>A (p.Glu869Lys)
NM_014425.5(INVS):c.2607G>A (p.Glu869=)
NM_014425.5(INVS):c.2610C>G (p.Asp870Glu)
NM_014425.5(INVS):c.2613T>C (p.Phe871=)
NM_014425.5(INVS):c.2614C>T (p.Gln872Ter)
NM_014425.5(INVS):c.2618dup (p.Ser874fs)
NM_014425.5(INVS):c.2619A>G (p.Val873=)
NM_014425.5(INVS):c.2622dup (p.Lys875Ter)
NM_014425.5(INVS):c.2625G>A (p.Lys875=)
NM_014425.5(INVS):c.2630C>T (p.Thr877Ile) rs1411773135
NM_014425.5(INVS):c.2647C>A (p.Pro883Thr) rs1833670830
NM_014425.5(INVS):c.2652C>A (p.Leu884=)
NM_014425.5(INVS):c.2652C>G (p.Leu884=)
NM_014425.5(INVS):c.2652C>T (p.Leu884=)
NM_014425.5(INVS):c.2655T>C (p.Ser885=)
NM_014425.5(INVS):c.2658G>A (p.Gly886=)
NM_014425.5(INVS):c.2659C>T (p.Gln887Ter)
NM_014425.5(INVS):c.2676C>T (p.Asp892=)
NM_014425.5(INVS):c.2679_2681del (p.Leu894del) rs1833672293
NM_014425.5(INVS):c.2686G>A (p.Val896Ile) rs114847355
NM_014425.5(INVS):c.2686G>C (p.Val896Leu) rs114847355
NM_014425.5(INVS):c.2695C>A (p.Arg899=) rs200844390
NM_014425.5(INVS):c.269A>G (p.Gln90Arg) rs1827890162
NM_014425.5(INVS):c.2716_2717del (p.Glu906fs)
NM_014425.5(INVS):c.2719C>A (p.Arg907=) rs267607185
NM_014425.5(INVS):c.2719C>T (p.Arg907Ter) rs267607185
NM_014425.5(INVS):c.2720G>T (p.Arg907Leu) rs781064013
NM_014425.5(INVS):c.2722A>G (p.Arg908Gly) rs1430951841
NM_014425.5(INVS):c.2727G>A (p.Arg909=)
NM_014425.5(INVS):c.2729del (p.Lys910fs) rs757019335
NM_014425.5(INVS):c.273+13del
NM_014425.5(INVS):c.273+15T>A
NM_014425.5(INVS):c.273+16T>C
NM_014425.5(INVS):c.273+1G>A
NM_014425.5(INVS):c.273+3G>A rs2118895764
NM_014425.5(INVS):c.273+5G>A rs1195767279
NM_014425.5(INVS):c.2730G>A (p.Lys910=)
NM_014425.5(INVS):c.274-13_274-9del
NM_014425.5(INVS):c.274-14T>C
NM_014425.5(INVS):c.274-15T>A
NM_014425.5(INVS):c.274-16_274-15del
NM_014425.5(INVS):c.274-20_274-16del
NM_014425.5(INVS):c.274-2A>G
NM_014425.5(INVS):c.2752A>G (p.Lys918Glu)
NM_014425.5(INVS):c.2757A>G (p.Ala919=)
NM_014425.5(INVS):c.2769C>A (p.Ile923=) rs2118765013
NM_014425.5(INVS):c.276A>C (p.Gly92=) rs1554724084
NM_014425.5(INVS):c.2772G>T (p.Gln924His)
NM_014425.5(INVS):c.2778C>A (p.Ala926=)
NM_014425.5(INVS):c.2779T>A (p.Trp927Arg)
NM_014425.5(INVS):c.2782C>A (p.Arg928=) rs376879175
NM_014425.5(INVS):c.2784A>C (p.Arg928=)
NM_014425.5(INVS):c.2786+10T>C
NM_014425.5(INVS):c.2786+14G>A
NM_014425.5(INVS):c.2786+14del
NM_014425.5(INVS):c.2786+2T>C rs1322951938
NM_014425.5(INVS):c.2786+2T>G
NM_014425.5(INVS):c.2787-17_2787-16del rs1317434637
NM_014425.5(INVS):c.2787-19T>C
NM_014425.5(INVS):c.2787-4C>T
NM_014425.5(INVS):c.2787-8C>T
NM_014425.5(INVS):c.2794C>T (p.Leu932Phe) rs2118781536
NM_014425.5(INVS):c.2797A>C (p.Arg933=)
NM_014425.5(INVS):c.2799G>A (p.Arg933=)
NM_014425.5(INVS):c.2801del (p.Lys934fs) rs2118781593
NM_014425.5(INVS):c.2802G>A (p.Lys934=)
NM_014425.5(INVS):c.2805C>A (p.His935Gln) rs1265354401
NM_014425.5(INVS):c.2808G>T (p.Leu936=) rs2118781641
NM_014425.5(INVS):c.2818C>G (p.Arg940Gly)
NM_014425.5(INVS):c.2818C>T (p.Arg940Trp)
NM_014425.5(INVS):c.2822A>C (p.His941Pro) rs886042226
NM_014425.5(INVS):c.2822A>G (p.His941Arg) rs886042226
NM_014425.5(INVS):c.2822A>T (p.His941Leu) rs886042226
NM_014425.5(INVS):c.2823T>C (p.His941=)
NM_014425.5(INVS):c.2828A>T (p.Lys943Met)
NM_014425.5(INVS):c.2829G>A (p.Lys943=)
NM_014425.5(INVS):c.282T>C (p.Tyr94=)
NM_014425.5(INVS):c.2834T>A (p.Leu945His) rs757927270
NM_014425.5(INVS):c.2834T>C (p.Leu945Pro) rs757927270
NM_014425.5(INVS):c.2844A>G (p.Gly948=)
NM_014425.5(INVS):c.2844_2848del (p.Asp949fs)
NM_014425.5(INVS):c.2861G>A (p.Arg954Lys) rs2118781948
NM_014425.5(INVS):c.2866G>A (p.Glu956Lys)
NM_014425.5(INVS):c.2868G>A (p.Glu956=)
NM_014425.5(INVS):c.2877A>G (p.Ala959=)
NM_014425.5(INVS):c.2878T>C (p.Leu960=)
NM_014425.5(INVS):c.2887C>T (p.Gln963Ter) rs1425211517
NM_014425.5(INVS):c.2894G>A (p.Trp965Ter)
NM_014425.5(INVS):c.2898G>A (p.Arg966=)
NM_014425.5(INVS):c.2903A>C (p.Glu968Ala) rs1366429329
NM_014425.5(INVS):c.2905C>G (p.Leu969Val) rs1833811478
NM_014425.5(INVS):c.2926_2951dup (p.Lys984_Ser985insProLeuGlnTer)
NM_014425.5(INVS):c.2928C>T (p.Thr976=)
NM_014425.5(INVS):c.2941A>G (p.Lys981Glu) rs1833812606
NM_014425.5(INVS):c.2947C>G (p.Pro983Ala) rs2118782522
NM_014425.5(INVS):c.2949C>G (p.Pro983=)
NM_014425.5(INVS):c.2949C>T (p.Pro983=)
NM_014425.5(INVS):c.2958A>C (p.Pro986=)
NM_014425.5(INVS):c.2961C>A (p.Ser987=)
NM_014425.5(INVS):c.2967C>T (p.Gly989=)
NM_014425.5(INVS):c.2972C>G (p.Ser991Ter) rs1329661241
NM_014425.5(INVS):c.2979A>G (p.Thr993=)
NM_014425.5(INVS):c.297C>G (p.Leu99=)
NM_014425.5(INVS):c.2984C>A (p.Ser995Tyr)
NM_014425.5(INVS):c.2985C>T (p.Ser995=)
NM_014425.5(INVS):c.2986A>G (p.Thr996Ala)
NM_014425.5(INVS):c.2995T>C (p.Ser999Pro) rs1833814101
NM_014425.5(INVS):c.2996C>G (p.Ser999Ter)
NM_014425.5(INVS):c.3000G>A (p.Val1000=)
NM_014425.5(INVS):c.3016+15G>A rs1270671278
NM_014425.5(INVS):c.3017-11del
NM_014425.5(INVS):c.3017-17T>G
NM_014425.5(INVS):c.3017-19A>C
NM_014425.5(INVS):c.3017-20_3017-19del rs2118786046
NM_014425.5(INVS):c.3017GTT[1] (p.Cys1007del)
NM_014425.5(INVS):c.3024T>C (p.Ser1008=)
NM_014425.5(INVS):c.302_305del (p.Leu101fs)
NM_014425.5(INVS):c.3033G>C (p.Gly1011=)
NM_014425.5(INVS):c.3038T>G (p.Ile1013Arg) rs1833838349
NM_014425.5(INVS):c.3044A>T (p.His1015Leu) rs2118786271
NM_014425.5(INVS):c.3051A>G (p.Thr1017=) rs1381275842
NM_014425.5(INVS):c.3052A>C (p.Arg1018=)
NM_014425.5(INVS):c.3085A>G (p.Asn1029Asp)
NM_014425.5(INVS):c.3091+10C>G
NM_014425.5(INVS):c.3091+14T>C
NM_014425.5(INVS):c.3091+7C>T
NM_014425.5(INVS):c.3092-11_3092-6del rs1245384768
NM_014425.5(INVS):c.3092-11del
NM_014425.5(INVS):c.3092-17G>T
NM_014425.5(INVS):c.3092-17del
NM_014425.5(INVS):c.3092-19T>G
NM_014425.5(INVS):c.309C>T (p.Arg103=)
NM_014425.5(INVS):c.3102A>G (p.Leu1034=) rs768286522
NM_014425.5(INVS):c.3104del (p.Gln1035fs) rs2118799345
NM_014425.5(INVS):c.3128G>A (p.Ser1043Asn)
NM_014425.5(INVS):c.3129T>C (p.Ser1043=)
NM_014425.5(INVS):c.3137_3138insTTC (p.Ser1046dup) rs778453251
NM_014425.5(INVS):c.3138A>C (p.Ser1046=) rs889561540
NM_014425.5(INVS):c.3138A>G (p.Ser1046=)
NM_014425.5(INVS):c.3159G>A (p.Leu1053=)
NM_014425.5(INVS):c.3182A>C (p.Asn1061Thr)
NM_014425.5(INVS):c.3182dup (p.Asn1061fs) rs760013326
NM_014425.5(INVS):c.3185A>G (p.Lys1062Arg) rs758703044
NM_014425.5(INVS):c.3189A>C (p.Thr1063=)
NM_014425.5(INVS):c.3189_3193dup (p.Pro1065fs)
NM_014425.5(INVS):c.3193C>G (p.Pro1065Ala)
NM_014425.5(INVS):c.319T>C (p.Trp107Arg)
NM_014425.5(INVS):c.321G>A (p.Trp107Ter)
NM_014425.5(INVS):c.330G>A (p.Lys110=)
NM_014425.5(INVS):c.336G>A (p.Leu112=) rs1564165829
NM_014425.5(INVS):c.337del (p.Glu113fs)
NM_014425.5(INVS):c.342G>C (p.Glu114Asp)
NM_014425.5(INVS):c.342_343del (p.Glu114fs)
NM_014425.5(INVS):c.349C>T (p.Pro117Ser) rs1021818693
NM_014425.5(INVS):c.357C>T (p.His119=) rs138668044
NM_014425.5(INVS):c.360G>A (p.Leu120=)
NM_014425.5(INVS):c.363C>T (p.Thr121=) rs1588103260
NM_014425.5(INVS):c.366C>T (p.Thr122=)
NM_014425.5(INVS):c.367C>A (p.Arg123=)
NM_014425.5(INVS):c.371A>G (p.His124Arg) rs1251662430
NM_014425.5(INVS):c.372C>T (p.His124=) rs1588103280
NM_014425.5(INVS):c.397C>T (p.Leu133=)
NM_014425.5(INVS):c.39A>G (p.Ser13=)
NM_014425.5(INVS):c.39A>T (p.Ser13=)
NM_014425.5(INVS):c.400C>T (p.Leu134=)
NM_014425.5(INVS):c.402G>A (p.Leu134=)
NM_014425.5(INVS):c.406T>A (p.Phe136Ile) rs1831314008
NM_014425.5(INVS):c.410T>C (p.Met137Thr) rs375209595
NM_014425.5(INVS):c.431C>T (p.Thr144Ile)
NM_014425.5(INVS):c.447+13C>G
NM_014425.5(INVS):c.447+18T>C
NM_014425.5(INVS):c.447+8A>C rs2118405041
NM_014425.5(INVS):c.447+9T>C
NM_014425.5(INVS):c.448-10G>A
NM_014425.5(INVS):c.448-11C>T
NM_014425.5(INVS):c.448-12T>C
NM_014425.5(INVS):c.448-19G>T rs760646531
NM_014425.5(INVS):c.448-2A>G
NM_014425.5(INVS):c.459G>A (p.Leu153=)
NM_014425.5(INVS):c.461A>G (p.His154Arg) rs1386694263
NM_014425.5(INVS):c.462T>C (p.His154=)
NM_014425.5(INVS):c.469G>A (p.Ala157Thr) rs1831445347
NM_014425.5(INVS):c.476A>G (p.Tyr159Cys) rs2118428051
NM_014425.5(INVS):c.477C>T (p.Tyr159=)
NM_014425.5(INVS):c.486T>C (p.Pro162=)
NM_014425.5(INVS):c.487G>C (p.Glu163Gln) rs1831445837
NM_014425.5(INVS):c.48A>T (p.Ser16=)
NM_014425.5(INVS):c.497_512dup (p.His171fs) rs779545419
NM_014425.5(INVS):c.497del (p.Lys166fs)
NM_014425.5(INVS):c.513T>C (p.His171=)
NM_014425.5(INVS):c.522C>T (p.Asn174=) rs2118428478
NM_014425.5(INVS):c.525T>A (p.Ile175=)
NM_014425.5(INVS):c.534T>C (p.Pro178=)
NM_014425.5(INVS):c.536A>T (p.Asp179Val)
NM_014425.5(INVS):c.546C>G (p.Gly182=) rs1289228389
NM_014425.5(INVS):c.582T>A (p.Asp194Glu) rs2118429045
NM_014425.5(INVS):c.597C>T (p.His199=) rs2118429203
NM_014425.5(INVS):c.615+10A>G
NM_014425.5(INVS):c.615+12G>C
NM_014425.5(INVS):c.615+16C>A
NM_014425.5(INVS):c.615+1G>A rs955421639
NM_014425.5(INVS):c.615G>C (p.Leu205=) rs140664868
NM_014425.5(INVS):c.616-11C>T
NM_014425.5(INVS):c.616-15G>A rs2118493033
NM_014425.5(INVS):c.621T>C (p.Ala207=)
NM_014425.5(INVS):c.630dup (p.Glu211fs)
NM_014425.5(INVS):c.640C>T (p.Leu214=) rs2118493268
NM_014425.5(INVS):c.648G>A (p.Trp216Ter)
NM_014425.5(INVS):c.662dup (p.Arg222fs) rs769739938
NM_014425.5(INVS):c.663T>G (p.Gly221=)
NM_014425.5(INVS):c.664C>T (p.Arg222Ter)
NM_014425.5(INVS):c.66C>A (p.Ala22=)
NM_014425.5(INVS):c.673_674del (p.Leu225fs) rs1205325321
NM_014425.5(INVS):c.67G>C (p.Val23Leu) rs145303373
NM_014425.5(INVS):c.6C>A (p.Asn2Lys) rs1827109471
NM_014425.5(INVS):c.705C>T (p.Thr235=)
NM_014425.5(INVS):c.708G>T (p.Val236=)
NM_014425.5(INVS):c.711T>C (p.Val237=)
NM_014425.5(INVS):c.717C>T (p.Val239=) rs2118493849
NM_014425.5(INVS):c.722C>T (p.Thr241Ile) rs1248564172
NM_014425.5(INVS):c.723C>T (p.Thr241=)
NM_014425.5(INVS):c.766C>T (p.Arg256Ter)
NM_014425.5(INVS):c.768A>C (p.Arg256=)
NM_014425.5(INVS):c.772C>T (p.Pro258Ser) rs866679782
NM_014425.5(INVS):c.773C>G (p.Pro258Arg)
NM_014425.5(INVS):c.775C>T (p.Leu259=) rs886063264
NM_014425.5(INVS):c.777G>T (p.Leu259=)
NM_014425.5(INVS):c.796+11C>T
NM_014425.5(INVS):c.796+15G>A
NM_014425.5(INVS):c.796+17A>C
NM_014425.5(INVS):c.796+19C>T
NM_014425.5(INVS):c.796+20A>G
NM_014425.5(INVS):c.796+8A>G
NM_014425.5(INVS):c.797-14G>A
NM_014425.5(INVS):c.797-16T>C
NM_014425.5(INVS):c.797-4T>C
NM_014425.5(INVS):c.797-5C>G
NM_014425.5(INVS):c.797-6T>C
NM_014425.5(INVS):c.797-9T>A
NM_014425.5(INVS):c.798C>A (p.Gly266=)
NM_014425.5(INVS):c.822T>G (p.Leu274=)
NM_014425.5(INVS):c.832A>G (p.Asn278Asp)
NM_014425.5(INVS):c.832A>T (p.Asn278Tyr)
NM_014425.5(INVS):c.833del (p.Asn278fs)
NM_014425.5(INVS):c.83del (p.Gly28fs) rs763565647
NM_014425.5(INVS):c.864A>G (p.Gln288=)
NM_014425.5(INVS):c.882C>T (p.His294=)
NM_014425.5(INVS):c.885T>C (p.Tyr295=)
NM_014425.5(INVS):c.88C>T (p.Leu30=)
NM_014425.5(INVS):c.906+12A>G
NM_014425.5(INVS):c.906+14G>A
NM_014425.5(INVS):c.906+14del
NM_014425.5(INVS):c.906+16C>T
NM_014425.5(INVS):c.906+18A>G
NM_014425.5(INVS):c.906+1G>A
NM_014425.5(INVS):c.906+20G>C
NM_014425.5(INVS):c.907-11T>C
NM_014425.5(INVS):c.907-13dup rs750082874
NM_014425.5(INVS):c.907-19A>T
NM_014425.5(INVS):c.907-1G>A
NM_014425.5(INVS):c.907-3C>T
NM_014425.5(INVS):c.90A>G (p.Leu30=)
NM_014425.5(INVS):c.912G>T (p.Thr304=) rs141109039
NM_014425.5(INVS):c.914T>G (p.Val305Gly)
NM_014425.5(INVS):c.915T>A (p.Val305=)
NM_014425.5(INVS):c.916A>G (p.Lys306Glu) rs878854981
NM_014425.5(INVS):c.92A>G (p.Gln31Arg) rs1003287751
NM_014425.5(INVS):c.942G>A (p.Val314=)
NM_014425.5(INVS):c.954A>C (p.Ser318=)
NM_014425.5(INVS):c.954A>G (p.Ser318=) rs778265507
NM_014425.5(INVS):c.958C>T (p.Leu320=)
NM_014425.5(INVS):c.96G>A (p.Arg32=) rs1588000254
NM_014425.5(INVS):c.983G>A (p.Trp328Ter)
NM_014425.5(INVS):c.985G>T (p.Ala329Ser) rs1212648125
NM_014425.5(INVS):c.986C>A (p.Ala329Glu) rs1202806202
NM_014425.5(INVS):c.990T>G (p.Ala330=)
NM_014425.5(INVS):c.99C>G (p.Leu33=)
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+20A>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.111G>A (p.Trp37Ter)
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.1206T>C (p.Ser402=)
NM_015102.5(NPHP4):c.1212G>T (p.Arg404Ser) rs1646368963
NM_015102.5(NPHP4):c.1218C>A (p.Thr406=)
NM_015102.5(NPHP4):c.1226T>C (p.Leu409Pro) rs1382775969
NM_015102.5(NPHP4):c.123G>A (p.Pro41=)
NM_015102.5(NPHP4):c.123G>T (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.1303-16T>C
NM_015102.5(NPHP4):c.1303-8C>A
NM_015102.5(NPHP4):c.1306_1314dup
NM_015102.5(NPHP4):c.1312G>A (p.Val438Met)
NM_015102.5(NPHP4):c.1317G>A (p.Glu439=)
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.135+19A>G
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.136-4C>T
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.1441+8T>C
NM_015102.5(NPHP4):c.1442-12G>A
NM_015102.5(NPHP4):c.1442-18C>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.1484A>G (p.Asn495Ser)
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.1612-16C>T
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>A
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.180G>A (p.Val60=)
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.1843C>T (p.Gln615Ter)
NM_015102.5(NPHP4):c.1846C>G (p.Pro616Ala)
NM_015102.5(NPHP4):c.1848A>C (p.Pro616=)
NM_015102.5(NPHP4):c.184_246del (p.Phe62_Thr82del)
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.1974A>C (p.Arg658=)
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.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>A
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.2368G>T (p.Glu790Ter) rs137852918
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.2439C>T (p.Val813=)
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.2507_2508del (p.Val836fs)
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.2766G>T (p.Val922=)
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.280-13T>G
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+10dup
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.2898C>T (p.Ser966=)
NM_015102.5(NPHP4):c.2908dup (p.Leu970fs) rs1168286961
NM_015102.5(NPHP4):c.2914A>C (p.Ser972Arg)
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.297A>G (p.Thr99=)
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.3045-18G>A
NM_015102.5(NPHP4):c.3045-4C>G rs886046462
NM_015102.5(NPHP4):c.3055G>A (p.Asp1019Asn)
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.3180C>T (p.His1060=)
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.3234C>T (p.Ala1078=)
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.3316-10C>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.3480G>C (p.Pro1160=)
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.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+8G>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>A rs756111113
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.375A>G (p.Thr125=)
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.3819A>C (p.Thr1273=)
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.3906dup (p.Val1303fs)
NM_015102.5(NPHP4):c.3909C>G (p.Val1303=) rs751495640
NM_015102.5(NPHP4):c.3911del (p.His1304fs)
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.3954C>G (p.Ser1318=)
NM_015102.5(NPHP4):c.3971G>C (p.Cys1324Ser) rs1371346310
NM_015102.5(NPHP4):c.3996+13G>A
NM_015102.5(NPHP4):c.3996+15C>T
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>A
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.3998C>G (p.Ala1333Gly) rs2100375514
NM_015102.5(NPHP4):c.401G>A (p.Arg134Gln)
NM_015102.5(NPHP4):c.401G>C (p.Arg134Pro)
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.4111C>T (p.Leu1371=)
NM_015102.5(NPHP4):c.4113G>A (p.Leu1371=)
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.4140+9G>T
NM_015102.5(NPHP4):c.4141-12G>A
NM_015102.5(NPHP4):c.4141G>A (p.Val1381Ile)
NM_015102.5(NPHP4):c.4143C>G (p.Val1381=)
NM_015102.5(NPHP4):c.4146G>A (p.Gly1382=)
NM_015102.5(NPHP4):c.4152A>C (p.Gly1384=)
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.4193G>A (p.Arg1398Lys)
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.4254A>G (p.Ala1418=)
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+11T>C
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.453-1G>T
NM_015102.5(NPHP4):c.453-20C>G
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>A
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.564G>A (p.Thr188=)
NM_015102.5(NPHP4):c.588G>A (p.Glu196=)
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.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.741C>T (p.Thr247=)
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.75G>A (p.Trp25Ter)
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.79G>T (p.Glu27Ter)
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+8G>T
NM_015102.5(NPHP4):c.810+8del
NM_015102.5(NPHP4):c.811-16T>C
NM_015102.5(NPHP4):c.813A>C (p.Gly271=) rs2101940859
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=)
NM_032575.3(GLIS2):c.1000C>A (p.Pro334Thr)
NM_032575.3(GLIS2):c.1004C>G (p.Pro335Arg)
NM_032575.3(GLIS2):c.1042G>A (p.Val348Ile)
NM_032575.3(GLIS2):c.1061T>C (p.Ile354Thr)
NM_032575.3(GLIS2):c.1078G>A (p.Ala360Thr)
NM_032575.3(GLIS2):c.1094C>T (p.Pro365Leu) rs2053561223
NM_032575.3(GLIS2):c.1111C>A (p.Pro371Thr)
NM_032575.3(GLIS2):c.1123G>C (p.Ala375Pro)
NM_032575.3(GLIS2):c.1194_1208dup (p.Gly401_Pro405dup) rs878855164
NM_032575.3(GLIS2):c.1200T>C (p.Pro400=) rs762143375
NM_032575.3(GLIS2):c.1202G>T (p.Gly401Val) rs1433611737
NM_032575.3(GLIS2):c.1203G>C (p.Gly401=) rs2141135025
NM_032575.3(GLIS2):c.1215C>T (p.Pro405=)
NM_032575.3(GLIS2):c.1256C>T (p.Ser419Leu) rs781541345
NM_032575.3(GLIS2):c.126G>A (p.Leu42=)
NM_032575.3(GLIS2):c.1272C>T (p.Gly424=)
NM_032575.3(GLIS2):c.129G>A (p.Val43=)
NM_032575.3(GLIS2):c.1320C>T (p.Gly440=)
NM_032575.3(GLIS2):c.1327G>A (p.Glu443Lys)
NM_032575.3(GLIS2):c.1393C>G (p.Leu465Val)
NM_032575.3(GLIS2):c.1393C>T (p.Leu465Phe) rs774316267
NM_032575.3(GLIS2):c.1397A>G (p.Glu466Gly)
NM_032575.3(GLIS2):c.1413C>A (p.Ser471Arg)
NM_032575.3(GLIS2):c.1413C>G (p.Ser471Arg) rs201182025
NM_032575.3(GLIS2):c.1455C>T (p.Gly485=)
NM_032575.3(GLIS2):c.1475C>T (p.Thr492Met) rs762640275
NM_032575.3(GLIS2):c.1479C>T (p.Gly493=)
NM_032575.3(GLIS2):c.1480G>A (p.Val494Ile)
NM_032575.3(GLIS2):c.1500C>T (p.Ser500=)
NM_032575.3(GLIS2):c.165G>A (p.Pro55=)
NM_032575.3(GLIS2):c.172+14G>A
NM_032575.3(GLIS2):c.173-16T>C
NM_032575.3(GLIS2):c.173-17C>G
NM_032575.3(GLIS2):c.195C>T (p.Phe65=)
NM_032575.3(GLIS2):c.234C>G (p.Leu78=) rs149312212
NM_032575.3(GLIS2):c.255A>G (p.Pro85=)
NM_032575.3(GLIS2):c.278A>G (p.Asn93Ser)
NM_032575.3(GLIS2):c.346-18C>T
NM_032575.3(GLIS2):c.362G>A (p.Arg121His)
NM_032575.3(GLIS2):c.484C>T (p.Leu162=)
NM_032575.3(GLIS2):c.512G>A (p.Arg171His)
NM_032575.3(GLIS2):c.51C>G (p.Leu17=)
NM_032575.3(GLIS2):c.522+10G>A rs569937790
NM_032575.3(GLIS2):c.522+11G>A
NM_032575.3(GLIS2):c.523-20A>T
NM_032575.3(GLIS2):c.576C>T (p.Tyr192=)
NM_032575.3(GLIS2):c.579T>C (p.His193=)
NM_032575.3(GLIS2):c.57G>A (p.Ala19=)
NM_032575.3(GLIS2):c.600G>A (p.Ala200=)
NM_032575.3(GLIS2):c.600G>C (p.Ala200=) rs186957679
NM_032575.3(GLIS2):c.608G>A (p.Cys203Tyr)
NM_032575.3(GLIS2):c.628G>A (p.Ala210Thr)
NM_032575.3(GLIS2):c.656+12GA[2]
NM_032575.3(GLIS2):c.657-17C>T
NM_032575.3(GLIS2):c.706C>T (p.Arg236Cys) rs140720783
NM_032575.3(GLIS2):c.714G>A (p.Pro238=)
NM_032575.3(GLIS2):c.765G>A (p.Arg255=) rs2141133274
NM_032575.3(GLIS2):c.768G>A (p.Ser256=)
NM_032575.3(GLIS2):c.775+16C>T
NM_032575.3(GLIS2):c.776-20T>G
NM_032575.3(GLIS2):c.81G>A (p.Thr27=)
NM_032575.3(GLIS2):c.914C>T (p.Thr305Met)
NM_032575.3(GLIS2):c.969C>T (p.His323=)
NM_153240.5(NPHP3):c.1009C>T (p.His337Tyr) rs769409934
NM_153240.5(NPHP3):c.1026A>G (p.Pro342=)
NM_153240.5(NPHP3):c.1038A>G (p.Glu346=) rs756382033
NM_153240.5(NPHP3):c.1040dup (p.Asn347fs) rs2107996325
NM_153240.5(NPHP3):c.1044A>G (p.Gln348=) rs1560014152
NM_153240.5(NPHP3):c.1056A>G (p.Val352=)
NM_153240.5(NPHP3):c.1068A>G (p.Glu356=) rs1215885580
NM_153240.5(NPHP3):c.1087_1090del (p.Val363fs) rs1576682880
NM_153240.5(NPHP3):c.1094_1098del (p.Leu365fs)
NM_153240.5(NPHP3):c.1118+11A>C rs751629184
NM_153240.5(NPHP3):c.1118+16A>T
NM_153240.5(NPHP3):c.1118+16del rs560151715
NM_153240.5(NPHP3):c.1118+16dup rs560151715
NM_153240.5(NPHP3):c.1118+17T>C rs766373582
NM_153240.5(NPHP3):c.1118+17del
NM_153240.5(NPHP3):c.1118+18G>A rs2107996221
NM_153240.5(NPHP3):c.1118+8del
NM_153240.5(NPHP3):c.1118G>A (p.Ser373Asn) rs1939959019
NM_153240.5(NPHP3):c.1119-18T>C
NM_153240.5(NPHP3):c.1119C>A (p.Ser373Arg)
NM_153240.5(NPHP3):c.1119C>G (p.Ser373Arg)
NM_153240.5(NPHP3):c.1124T>A (p.Leu375Ter)
NM_153240.5(NPHP3):c.1129G>C (p.Glu377Gln) rs2107990706
NM_153240.5(NPHP3):c.112G>A (p.Ala38Thr) rs2108008149
NM_153240.5(NPHP3):c.1132G>T (p.Asp378Tyr) rs1939810316
NM_153240.5(NPHP3):c.1139A>T (p.Glu380Val)
NM_153240.5(NPHP3):c.1164del (p.Gly389fs) rs2107990671
NM_153240.5(NPHP3):c.1167A>G (p.Gly389=)
NM_153240.5(NPHP3):c.1179A>T (p.Leu393Phe)
NM_153240.5(NPHP3):c.1181T>A (p.Ile394Asn) rs753749299
NM_153240.5(NPHP3):c.1197del (p.Asp400fs)
NM_153240.5(NPHP3):c.1211G>T (p.Ser404Ile) rs765850571
NM_153240.5(NPHP3):c.1221T>C (p.Ser407=)
NM_153240.5(NPHP3):c.1230A>G (p.Gln410=)
NM_153240.5(NPHP3):c.1243G>T (p.Val415Phe)
NM_153240.5(NPHP3):c.124C>G (p.Arg42Gly)
NM_153240.5(NPHP3):c.1275+10A>G
NM_153240.5(NPHP3):c.1275+12del rs2107990515
NM_153240.5(NPHP3):c.1275+14G>T
NM_153240.5(NPHP3):c.1276-7del rs2107987665
NM_153240.5(NPHP3):c.1288T>C (p.Ser430Pro) rs151118635
NM_153240.5(NPHP3):c.1289C>G (p.Ser430Ter)
NM_153240.5(NPHP3):c.1290A>G (p.Ser430=)
NM_153240.5(NPHP3):c.1304_1306del (p.Glu435del) rs1456714047
NM_153240.5(NPHP3):c.1319C>T (p.Thr440Ile)
NM_153240.5(NPHP3):c.1322A>G (p.Tyr441Cys) rs1939731078
NM_153240.5(NPHP3):c.132G>C (p.Ser44=)
NM_153240.5(NPHP3):c.1330G>A (p.Val444Ile) rs921931732
NM_153240.5(NPHP3):c.1337A>C (p.Lys446Thr)
NM_153240.5(NPHP3):c.133T>C (p.Phe45Leu)
NM_153240.5(NPHP3):c.1350+10C>A
NM_153240.5(NPHP3):c.1350+11A>G rs1159005602
NM_153240.5(NPHP3):c.1350+17T>A
NM_153240.5(NPHP3):c.1350+5A>G rs1422460034
NM_153240.5(NPHP3):c.1351-11T>C rs2107986017
NM_153240.5(NPHP3):c.1351-15G>A rs2107986026
NM_153240.5(NPHP3):c.1351-7T>A
NM_153240.5(NPHP3):c.1358T>G (p.Leu453Arg) rs1021022605
NM_153240.5(NPHP3):c.1360G>A (p.Gly454Ser)
NM_153240.5(NPHP3):c.1379_1380delinsCC (p.Leu460Ser) rs1939692144
NM_153240.5(NPHP3):c.1404G>T (p.Glu468Asp)
NM_153240.5(NPHP3):c.140G>T (p.Arg47Leu) rs1195739416
NM_153240.5(NPHP3):c.1420G>C (p.Glu474Gln) rs1939691135
NM_153240.5(NPHP3):c.1422A>T (p.Glu474Asp) rs2107985912
NM_153240.5(NPHP3):c.1429T>C (p.Phe477Leu)
NM_153240.5(NPHP3):c.1441C>T (p.Leu481=)
NM_153240.5(NPHP3):c.1452A>G (p.Ile484Met) rs771804922
NM_153240.5(NPHP3):c.1457A>G (p.Asp486Gly) rs1553773832
NM_153240.5(NPHP3):c.146C>G (p.Ala49Gly) rs763420553
NM_153240.5(NPHP3):c.1470A>G (p.Gln490=) rs2107985821
NM_153240.5(NPHP3):c.1476A>C (p.Glu492Asp) rs371254114
NM_153240.5(NPHP3):c.1477A>G (p.Thr493Ala)
NM_153240.5(NPHP3):c.1487A>G (p.Gln496Arg) rs1939688689
NM_153240.5(NPHP3):c.14C>A (p.Ser5Ter)
NM_153240.5(NPHP3):c.14C>T (p.Ser5Leu)
NM_153240.5(NPHP3):c.150G>A (p.Gly50=)
NM_153240.5(NPHP3):c.1514G>C (p.Gly505Ala) rs368008794
NM_153240.5(NPHP3):c.1515A>G (p.Gly505=) rs1411856886
NM_153240.5(NPHP3):c.151G>A (p.Ala51Thr)
NM_153240.5(NPHP3):c.151_152delinsTT (p.Ala51Leu) rs1553775776
NM_153240.5(NPHP3):c.1524+7G>T rs760682707
NM_153240.5(NPHP3):c.1525-12T>G
NM_153240.5(NPHP3):c.1525-13dup rs762115717
NM_153240.5(NPHP3):c.1525-17T>C
NM_153240.5(NPHP3):c.1525-20A>G
NM_153240.5(NPHP3):c.1525-2A>G
NM_153240.5(NPHP3):c.1525-5del rs762115717
NM_153240.5(NPHP3):c.1525T>C (p.Tyr509His) rs1939605927
NM_153240.5(NPHP3):c.1526A>G (p.Tyr509Cys)
NM_153240.5(NPHP3):c.152C>T (p.Ala51Val) rs577583077
NM_153240.5(NPHP3):c.1531C>T (p.Gln511Ter)
NM_153240.5(NPHP3):c.1533A>G (p.Gln511=) rs368126549
NM_153240.5(NPHP3):c.1534C>T (p.Arg512Cys)
NM_153240.5(NPHP3):c.1535G>A (p.Arg512His)
NM_153240.5(NPHP3):c.1541A>G (p.Asn514Ser) rs1032053554
NM_153240.5(NPHP3):c.155C>T (p.Ala52Val) rs747055547
NM_153240.5(NPHP3):c.155CAG[1] (p.Ala53del) rs766573820
NM_153240.5(NPHP3):c.1566G>A (p.Pro522=)
NM_153240.5(NPHP3):c.156A>C (p.Ala52=) rs913198504
NM_153240.5(NPHP3):c.156A>G (p.Ala52=)
NM_153240.5(NPHP3):c.1571C>T (p.Pro524Leu) rs1309124422
NM_153240.5(NPHP3):c.15G>A (p.Ser5=) rs2108008379
NM_153240.5(NPHP3):c.1608G>A (p.Lys536=) rs200647158
NM_153240.5(NPHP3):c.160G>A (p.Gly54Arg) rs1054438148
NM_153240.5(NPHP3):c.161G>A (p.Gly54Glu) rs1281178184
NM_153240.5(NPHP3):c.1628+19A>C
NM_153240.5(NPHP3):c.1628+2T>A rs1277862520
NM_153240.5(NPHP3):c.1628+9C>A rs1199591337
NM_153240.5(NPHP3):c.1628+9C>T
NM_153240.5(NPHP3):c.162G>A (p.Gly54=) rs2108008005
NM_153240.5(NPHP3):c.1635A>G (p.Gln545=)
NM_153240.5(NPHP3):c.1649A>G (p.Asn550Ser)
NM_153240.5(NPHP3):c.1663C>T (p.Leu555=)
NM_153240.5(NPHP3):c.166_167delinsTA (p.Gly56Ter)
NM_153240.5(NPHP3):c.1675del (p.His559fs)
NM_153240.5(NPHP3):c.1689G>A (p.Arg563=)
NM_153240.5(NPHP3):c.169_174dup (p.Pro57_Gly58dup) rs1553775768
NM_153240.5(NPHP3):c.16T>C (p.Ser6Pro)
NM_153240.5(NPHP3):c.1706C>G (p.Ser569Ter)
NM_153240.5(NPHP3):c.1707A>G (p.Ser569=)
NM_153240.5(NPHP3):c.170C>T (p.Pro57Leu)
NM_153240.5(NPHP3):c.1714T>C (p.Ser572Pro) rs781274734
NM_153240.5(NPHP3):c.1716C>G (p.Ser572=) rs1060504844
NM_153240.5(NPHP3):c.171C>G (p.Pro57=) rs778581370
NM_153240.5(NPHP3):c.171C>T (p.Pro57=) rs778581370
NM_153240.5(NPHP3):c.1725T>G (p.Ile575Met)
NM_153240.5(NPHP3):c.1732C>G (p.Leu578Val) rs1939573837
NM_153240.5(NPHP3):c.1736C>T (p.Thr579Ile)
NM_153240.5(NPHP3):c.1743+17T>G rs2107981287
NM_153240.5(NPHP3):c.1743+19T>C
NM_153240.5(NPHP3):c.1743+3A>G rs750181541
NM_153240.5(NPHP3):c.1744-4G>T rs750318426
NM_153240.5(NPHP3):c.1744-8T>C
NM_153240.5(NPHP3):c.1748T>C (p.Met583Thr)
NM_153240.5(NPHP3):c.1751A>G (p.Gln584Arg) rs1939565151
NM_153240.5(NPHP3):c.1752G>A (p.Gln584=) rs1409547506
NM_153240.5(NPHP3):c.1765G>A (p.Val589Ile) rs753592193
NM_153240.5(NPHP3):c.1777A>G (p.Thr593Ala) rs373627362
NM_153240.5(NPHP3):c.1779A>G (p.Thr593=)
NM_153240.5(NPHP3):c.1794G>C (p.Lys598Asn)
NM_153240.5(NPHP3):c.180G>A (p.Leu60=)
NM_153240.5(NPHP3):c.1814G>A (p.Arg605His) rs763388690
NM_153240.5(NPHP3):c.1817G>T (p.Trp606Leu)
NM_153240.5(NPHP3):c.1832_1833del (p.Ser611fs) rs780165789
NM_153240.5(NPHP3):c.1838G>A (p.Arg613His)
NM_153240.5(NPHP3):c.1853T>C (p.Ile618Thr) rs139730838
NM_153240.5(NPHP3):c.1861G>A (p.Val621Ile)
NM_153240.5(NPHP3):c.186C>T (p.Arg62=)
NM_153240.5(NPHP3):c.187G>C (p.Gly63Arg) rs753458157
NM_153240.5(NPHP3):c.1887+10T>A
NM_153240.5(NPHP3):c.1887+11C>A
NM_153240.5(NPHP3):c.1887+5C>T rs1939561378
NM_153240.5(NPHP3):c.1888-20T>G
NM_153240.5(NPHP3):c.1888-4del
NM_153240.5(NPHP3):c.1913T>C (p.Leu638Pro) rs2107980092
NM_153240.5(NPHP3):c.1923A>G (p.Pro641=)
NM_153240.5(NPHP3):c.1936G>T (p.Val646Leu) rs1362469132
NM_153240.5(NPHP3):c.1944A>T (p.Val648=)
NM_153240.5(NPHP3):c.1945A>C (p.Ile649Leu) rs1213749947
NM_153240.5(NPHP3):c.1976del (p.Pro659fs) rs1939543636
NM_153240.5(NPHP3):c.197C>T (p.Ala66Val) rs2108007880
NM_153240.5(NPHP3):c.1980A>G (p.Ala660=)
NM_153240.5(NPHP3):c.1985+18G>A rs754296173
NM_153240.5(NPHP3):c.1985+18G>T
NM_153240.5(NPHP3):c.1985+1G>A rs1553773271
NM_153240.5(NPHP3):c.1985+5G>A rs754508002
NM_153240.5(NPHP3):c.1986G>C (p.Arg662Ser) rs77533254
NM_153240.5(NPHP3):c.1989G>A (p.Leu663=) rs1939482136
NM_153240.5(NPHP3):c.1989G>T (p.Leu663Phe) rs1939482136
NM_153240.5(NPHP3):c.198G>T (p.Ala66=)
NM_153240.5(NPHP3):c.1dup (p.Met1fs) rs2108008416
NM_153240.5(NPHP3):c.2013C>T (p.Pro671=)
NM_153240.5(NPHP3):c.2035T>G (p.Ser679Ala) rs767716649
NM_153240.5(NPHP3):c.2040del (p.Ile680_Ile681insTer) rs757578685
NM_153240.5(NPHP3):c.2052A>G (p.Glu684=)
NM_153240.5(NPHP3):c.2074T>C (p.Leu692=) rs1939479118
NM_153240.5(NPHP3):c.207G>A (p.Leu69=)
NM_153240.5(NPHP3):c.2085G>C (p.Glu695Asp) rs553166708
NM_153240.5(NPHP3):c.2089-4G>T
NM_153240.5(NPHP3):c.2089-8T>C
NM_153240.5(NPHP3):c.2098C>T (p.Leu700=)
NM_153240.5(NPHP3):c.2099T>G (p.Leu700Arg) rs1939465838
NM_153240.5(NPHP3):c.2105G>A (p.Arg702Gln) rs889394540
NM_153240.5(NPHP3):c.210G>A (p.Leu70=)
NM_153240.5(NPHP3):c.2111_2112del (p.Cys704fs) rs2107976854
NM_153240.5(NPHP3):c.2113C>G (p.Arg705Gly) rs776393897
NM_153240.5(NPHP3):c.2119G>A (p.Ala707Thr)
NM_153240.5(NPHP3):c.2122A>G (p.Thr708Ala)
NM_153240.5(NPHP3):c.2141A>T (p.Tyr714Phe)
NM_153240.5(NPHP3):c.2157C>G (p.Gly719=) rs1939463263
NM_153240.5(NPHP3):c.2157C>T (p.Gly719=)
NM_153240.5(NPHP3):c.2161A>G (p.Met721Val)
NM_153240.5(NPHP3):c.2171+10G>A
NM_153240.5(NPHP3):c.2171+4A>G rs2107976702
NM_153240.5(NPHP3):c.2171G>A (p.Arg724His) rs1064797063
NM_153240.5(NPHP3):c.2172-11G>A
NM_153240.5(NPHP3):c.2172-2A>C
NM_153240.5(NPHP3):c.2172-2A>G rs547310372
NM_153240.5(NPHP3):c.2183C>G (p.Ala728Gly) rs2107974706
NM_153240.5(NPHP3):c.2186G>A (p.Gly729Asp)
NM_153240.5(NPHP3):c.2193A>G (p.Leu731=) rs2107974699
NM_153240.5(NPHP3):c.21C>G (p.Leu7=)
NM_153240.5(NPHP3):c.2201T>G (p.Ile734Ser)
NM_153240.5(NPHP3):c.2214T>A (p.Cys738Ter)
NM_153240.5(NPHP3):c.2218C>T (p.Gln740Ter)
NM_153240.5(NPHP3):c.2220G>C (p.Gln740His) rs148515364
NM_153240.5(NPHP3):c.2233C>G (p.Leu745Val)
NM_153240.5(NPHP3):c.2238A>G (p.Ser746=) rs2107974643
NM_153240.5(NPHP3):c.2263A>G (p.Ile755Val) rs772613405
NM_153240.5(NPHP3):c.22G>T (p.Val8Leu)
NM_153240.5(NPHP3):c.2310+10A>G rs1939404058
NM_153240.5(NPHP3):c.2310+17T>A
NM_153240.5(NPHP3):c.2311-12T>G rs1939334269
NM_153240.5(NPHP3):c.2311-13T>G
NM_153240.5(NPHP3):c.2311-14G>A
NM_153240.5(NPHP3):c.2311-6A>C rs769918347
NM_153240.5(NPHP3):c.2311-6A>G rs769918347
NM_153240.5(NPHP3):c.2311-9T>C
NM_153240.5(NPHP3):c.2320C>T (p.Leu774Phe)
NM_153240.5(NPHP3):c.234C>T (p.Gly78=)
NM_153240.5(NPHP3):c.2361G>C (p.Leu787=)
NM_153240.5(NPHP3):c.2364G>A (p.Met788Ile)
NM_153240.5(NPHP3):c.2365G>A (p.Glu789Lys)
NM_153240.5(NPHP3):c.2387G>A (p.Trp796Ter) rs2107971687
NM_153240.5(NPHP3):c.2389A>G (p.Thr797Ala) rs1215241671
NM_153240.5(NPHP3):c.2394C>T (p.Phe798=) rs534190640
NM_153240.5(NPHP3):c.2397G>C (p.Leu799Phe) rs1060503157
NM_153240.5(NPHP3):c.240G>C (p.Ser80=)
NM_153240.5(NPHP3):c.2431T>C (p.Leu811=) rs2107971631
NM_153240.5(NPHP3):c.2433G>A (p.Leu811=) rs1277600730
NM_153240.5(NPHP3):c.2433G>C (p.Leu811Phe) rs1277600730
NM_153240.5(NPHP3):c.2437A>T (p.Thr813Ser) rs2107971625
NM_153240.5(NPHP3):c.2439T>A (p.Thr813=) rs2107971620
NM_153240.5(NPHP3):c.2447G>A (p.Cys816Tyr) rs1939330730
NM_153240.5(NPHP3):c.2470C>G (p.Leu824Val)
NM_153240.5(NPHP3):c.2471T>A (p.Leu824Gln)
NM_153240.5(NPHP3):c.2475+19T>A
NM_153240.5(NPHP3):c.2476-14C>T
NM_153240.5(NPHP3):c.2479T>G (p.Trp827Gly)
NM_153240.5(NPHP3):c.2487A>C (p.Thr829=) rs866796047
NM_153240.5(NPHP3):c.249G>A (p.Glu83=) rs1940246811
NM_153240.5(NPHP3):c.2512C>G (p.Pro838Ala)
NM_153240.5(NPHP3):c.2518G>A (p.Val840Ile) rs138865996
NM_153240.5(NPHP3):c.2541G>T (p.Lys847Asn)
NM_153240.5(NPHP3):c.2545A>G (p.Ile849Val) rs1939290522
NM_153240.5(NPHP3):c.2546T>C (p.Ile849Thr) rs1939290471
NM_153240.5(NPHP3):c.2562G>A (p.Leu854=)
NM_153240.5(NPHP3):c.2564A>G (p.Gln855Arg)
NM_153240.5(NPHP3):c.2570+10A>G rs1576665035
NM_153240.5(NPHP3):c.2570+17T>C
NM_153240.5(NPHP3):c.2570+18G>A
NM_153240.5(NPHP3):c.2571-14C>G
NM_153240.5(NPHP3):c.2577C>T (p.Asp859=)
NM_153240.5(NPHP3):c.2582T>C (p.Val861Ala)
NM_153240.5(NPHP3):c.258C>T (p.Tyr86=)
NM_153240.5(NPHP3):c.2610G>T (p.Pro870=)
NM_153240.5(NPHP3):c.265G>A (p.Ala89Thr) rs1432366479
NM_153240.5(NPHP3):c.2667C>A (p.Leu889=)
NM_153240.5(NPHP3):c.2675C>T (p.Ser892Phe)
NM_153240.5(NPHP3):c.2692A>C (p.Arg898=)
NM_153240.5(NPHP3):c.2693+15A>C
NM_153240.5(NPHP3):c.2702_2703del (p.Phe901fs)
NM_153240.5(NPHP3):c.2703T>C (p.Phe901=)
NM_153240.5(NPHP3):c.2721T>C (p.Tyr907=) rs1486007292
NM_153240.5(NPHP3):c.273C>A (p.Tyr91Ter)
NM_153240.5(NPHP3):c.273del (p.Glu90_Tyr91insTer) rs758558609
NM_153240.5(NPHP3):c.2749G>A (p.Ala917Thr)
NM_153240.5(NPHP3):c.274G>C (p.Glu92Gln)
NM_153240.5(NPHP3):c.2756C>T (p.Ala919Val) rs2107968077
NM_153240.5(NPHP3):c.2760A>G (p.Thr920=) rs2107968069
NM_153240.5(NPHP3):c.2773del (p.Ser925fs)
NM_153240.5(NPHP3):c.2783A>G (p.Gln928Arg) rs751790371
NM_153240.5(NPHP3):c.2799C>T (p.Cys933=)
NM_153240.5(NPHP3):c.2800G>A (p.Glu934Lys)
NM_153240.5(NPHP3):c.2808G>A (p.Glu936=)
NM_153240.5(NPHP3):c.2813A>C (p.Asn938Thr) rs1939236897
NM_153240.5(NPHP3):c.2823C>T (p.Cys941=)
NM_153240.5(NPHP3):c.2840A>G (p.Glu947Gly)
NM_153240.5(NPHP3):c.2857C>G (p.Leu953Val)
NM_153240.5(NPHP3):c.2868A>G (p.Leu956=)
NM_153240.5(NPHP3):c.2871C>T (p.Gly957=) rs2107967950
NM_153240.5(NPHP3):c.2879G>A (p.Ser960Asn) rs1939235108
NM_153240.5(NPHP3):c.2880_2883del (p.Ser960fs) rs1939234862
NM_153240.5(NPHP3):c.2883+7_2883+16del
NM_153240.5(NPHP3):c.2884-14C>T
NM_153240.5(NPHP3):c.2884-16dup rs2107967791
NM_153240.5(NPHP3):c.2884-4C>A rs185913426
NM_153240.5(NPHP3):c.2884-6C>T
NM_153240.5(NPHP3):c.2884-8C>A rs757300023
NM_153240.5(NPHP3):c.2884-9T>C
NM_153240.5(NPHP3):c.2884G>A (p.Ala962Thr)
NM_153240.5(NPHP3):c.2889A>G (p.Ile963Met) rs2107967753
NM_153240.5(NPHP3):c.2902A>G (p.Arg968Gly)
NM_153240.5(NPHP3):c.2909T>C (p.Leu970Ser) rs2107967729
NM_153240.5(NPHP3):c.2913G>T (p.Glu971Asp)
NM_153240.5(NPHP3):c.2926G>A (p.Ala976Thr)
NM_153240.5(NPHP3):c.2928T>G (p.Ala976=) rs2107967702
NM_153240.5(NPHP3):c.2936C>T (p.Pro979Leu) rs903849432
NM_153240.5(NPHP3):c.293A>G (p.Tyr98Cys) rs1553775714
NM_153240.5(NPHP3):c.293A>T (p.Tyr98Phe) rs1553775714
NM_153240.5(NPHP3):c.2950G>A (p.Val984Ile)
NM_153240.5(NPHP3):c.2956dup (p.Gln986fs) rs1560002147
NM_153240.5(NPHP3):c.2970A>G (p.Gln990=) rs2107967635
NM_153240.5(NPHP3):c.2975dup (p.Ser993fs)
NM_153240.5(NPHP3):c.2985C>G (p.Tyr995Ter) rs777768843
NM_153240.5(NPHP3):c.2995A>C (p.Lys999Gln) rs559425353
NM_153240.5(NPHP3):c.2995A>G (p.Lys999Glu) rs559425353
NM_153240.5(NPHP3):c.3003del (p.Phe1001fs) rs1560002113
NM_153240.5(NPHP3):c.3008A>G (p.Asn1003Ser)
NM_153240.5(NPHP3):c.300C>T (p.Ile100=)
NM_153240.5(NPHP3):c.3023A>G (p.Tyr1008Cys) rs2107967560
NM_153240.5(NPHP3):c.3027A>G (p.Lys1009=)
NM_153240.5(NPHP3):c.3033G>A (p.Ala1011=)
NM_153240.5(NPHP3):c.3040A>T (p.Ile1014Phe) rs1939224766
NM_153240.5(NPHP3):c.3048A>G (p.Glu1016=) rs1170253406
NM_153240.5(NPHP3):c.3057T>C (p.Tyr1019=)
NM_153240.5(NPHP3):c.3059G>A (p.Gly1020Asp) rs146097715
NM_153240.5(NPHP3):c.3059G>C (p.Gly1020Ala) rs146097715
NM_153240.5(NPHP3):c.307G>A (p.Val103Ile) rs567070832
NM_153240.5(NPHP3):c.3083G>A (p.Arg1028His) rs200722938
NM_153240.5(NPHP3):c.3088C>G (p.Leu1030Val)
NM_153240.5(NPHP3):c.30del (p.Ala11fs) rs1311592052
NM_153240.5(NPHP3):c.3118C>T (p.Gln1040Ter)
NM_153240.5(NPHP3):c.3125+15A>G
NM_153240.5(NPHP3):c.3125+19G>A rs2107967402
NM_153240.5(NPHP3):c.3125+7dup rs11396595
NM_153240.5(NPHP3):c.3126-13A>T
NM_153240.5(NPHP3):c.3126-17T>C rs186041429
NM_153240.5(NPHP3):c.3126-17T>G rs186041429
NM_153240.5(NPHP3):c.3126-3A>C rs1939185158
NM_153240.5(NPHP3):c.3126-4del rs398124547
NM_153240.5(NPHP3):c.3126-6T>G rs1405952605
NM_153240.5(NPHP3):c.3126-7T>G rs1262764918
NM_153240.5(NPHP3):c.3128A>G (p.Tyr1043Cys)
NM_153240.5(NPHP3):c.3128A>T (p.Tyr1043Phe) rs368696653
NM_153240.5(NPHP3):c.3129T>A (p.Tyr1043Ter) rs758238787
NM_153240.5(NPHP3):c.3134A>G (p.Gln1045Arg)
NM_153240.5(NPHP3):c.3137C>G (p.Ala1046Gly) rs756790389
NM_153240.5(NPHP3):c.3139G>C (p.Glu1047Gln) rs1306519589
NM_153240.5(NPHP3):c.3156dup (p.Ser1053fs) rs771215577
NM_153240.5(NPHP3):c.3172C>A (p.Gln1058Lys)
NM_153240.5(NPHP3):c.3180T>G (p.Ala1060=) rs2107965871
NM_153240.5(NPHP3):c.3181A>G (p.Ile1061Val)
NM_153240.5(NPHP3):c.3201+11A>G rs1423098134
NM_153240.5(NPHP3):c.3201+2T>G
NM_153240.5(NPHP3):c.3201+6G>A
NM_153240.5(NPHP3):c.3202-3C>G rs748849731
NM_153240.5(NPHP3):c.3202-4G>A
NM_153240.5(NPHP3):c.3204C>T (p.Tyr1068=)
NM_153240.5(NPHP3):c.3213C>T (p.Ala1071=)
NM_153240.5(NPHP3):c.3220C>T (p.Arg1074Cys) rs750800732
NM_153240.5(NPHP3):c.3229G>A (p.Ala1077Thr) rs753978185
NM_153240.5(NPHP3):c.3255_3256dup (p.Gly1086fs)
NM_153240.5(NPHP3):c.326TGT[1] (p.Leu110del) rs753616848
NM_153240.5(NPHP3):c.3279T>G (p.Ala1093=)
NM_153240.5(NPHP3):c.328T>C (p.Leu110=)
NM_153240.5(NPHP3):c.328T>G (p.Leu110Val) rs369995775
NM_153240.5(NPHP3):c.3296T>G (p.Leu1099Arg)
NM_153240.5(NPHP3):c.3297G>A (p.Leu1099=) rs1560000891
NM_153240.5(NPHP3):c.329T>C (p.Leu110Ser)
NM_153240.5(NPHP3):c.3309C>G (p.Tyr1103Ter) rs1560000875
NM_153240.5(NPHP3):c.3318A>C (p.Gln1106His) rs1161730457
NM_153240.5(NPHP3):c.3326T>G (p.Leu1109Arg) rs369704665
NM_153240.5(NPHP3):c.3330-18T>C rs1476177804
NM_153240.5(NPHP3):c.3358T>C (p.Leu1120=)
NM_153240.5(NPHP3):c.3364A>G (p.Met1122Val) rs2107963463
NM_153240.5(NPHP3):c.3374G>C (p.Arg1125Pro) rs767752387
NM_153240.5(NPHP3):c.3386C>A (p.Pro1129Gln) rs1939112649
NM_153240.5(NPHP3):c.339C>G (p.Gly113=)
NM_153240.5(NPHP3):c.3402_3403del (p.Ala1135fs) rs746849675
NM_153240.5(NPHP3):c.340C>T (p.Arg114Cys)
NM_153240.5(NPHP3):c.3439G>T (p.Glu1147Ter) rs2107963367
NM_153240.5(NPHP3):c.3444G>A (p.Lys1148=)
NM_153240.5(NPHP3):c.3447_3449dup (p.Gln1150dup) rs779803619
NM_153240.5(NPHP3):c.3448C>G (p.Gln1150Glu)
NM_153240.5(NPHP3):c.347A>G (p.Glu116Gly) rs2108007537
NM_153240.5(NPHP3):c.3515A>G (p.Asp1172Gly) rs2107963298
NM_153240.5(NPHP3):c.3517C>T (p.His1173Tyr) rs2107963292
NM_153240.5(NPHP3):c.3531A>G (p.Ala1177=)
NM_153240.5(NPHP3):c.353A>G (p.Lys118Arg)
NM_153240.5(NPHP3):c.3551C>T (p.Ala1184Val)
NM_153240.5(NPHP3):c.3558G>T (p.Leu1186Phe)
NM_153240.5(NPHP3):c.3560A>G (p.Tyr1187Cys)
NM_153240.5(NPHP3):c.3560A>T (p.Tyr1187Phe) rs774889708
NM_153240.5(NPHP3):c.3570+18T>C rs2107963185
NM_153240.5(NPHP3):c.3571-10del
NM_153240.5(NPHP3):c.3571-10dup
NM_153240.5(NPHP3):c.3571-11_3571-10del
NM_153240.5(NPHP3):c.3571-14C>T
NM_153240.5(NPHP3):c.3571-15A>T
NM_153240.5(NPHP3):c.3571-20A>C
NM_153240.5(NPHP3):c.3571-20A>G
NM_153240.5(NPHP3):c.3571-3T>C
NM_153240.5(NPHP3):c.3571-3dup
NM_153240.5(NPHP3):c.3571-7T>G
NM_153240.5(NPHP3):c.3576del (p.Lys1192fs)
NM_153240.5(NPHP3):c.3578T>C (p.Leu1193Pro)
NM_153240.5(NPHP3):c.3584A>G (p.Lys1195Arg) rs902755372
NM_153240.5(NPHP3):c.3589G>A (p.Val1197Ile) rs1400005418
NM_153240.5(NPHP3):c.3597G>C (p.Leu1199Phe)
NM_153240.5(NPHP3):c.359A>T (p.Asp120Val)
NM_153240.5(NPHP3):c.3604T>C (p.Leu1202=)
NM_153240.5(NPHP3):c.3607G>A (p.Ala1203Thr)
NM_153240.5(NPHP3):c.3612T>A (p.Val1204=)
NM_153240.5(NPHP3):c.362C>G (p.Thr121Arg) rs1940240950
NM_153240.5(NPHP3):c.3635G>T (p.Gly1212Val)
NM_153240.5(NPHP3):c.3642G>A (p.Lys1214=)
NM_153240.5(NPHP3):c.3656C>G (p.Ala1219Gly)
NM_153240.5(NPHP3):c.3676G>A (p.Ala1226Thr) rs2107962025
NM_153240.5(NPHP3):c.367A>T (p.Asn123Tyr)
NM_153240.5(NPHP3):c.3696+12T>A
NM_153240.5(NPHP3):c.3696+14T>G
NM_153240.5(NPHP3):c.3696+8C>T
NM_153240.5(NPHP3):c.3696_3696+3del
NM_153240.5(NPHP3):c.3697-11T>C
NM_153240.5(NPHP3):c.3697-11_3697-7del rs564013823
NM_153240.5(NPHP3):c.3697-13T>G rs1939067140
NM_153240.5(NPHP3):c.3697-14dup rs564013823
NM_153240.5(NPHP3):c.3697-16C>A rs2107961469
NM_153240.5(NPHP3):c.3697-16_3697-14del
NM_153240.5(NPHP3):c.3697-3A>G rs2107961442
NM_153240.5(NPHP3):c.3697-7T>G rs777908405
NM_153240.5(NPHP3):c.3697-7del rs564013823
NM_153240.5(NPHP3):c.3697-9T>G rs1939067062
NM_153240.5(NPHP3):c.3698A>G (p.Lys1233Arg) rs2107961440
NM_153240.5(NPHP3):c.3707_3709del (p.Val1236del)
NM_153240.5(NPHP3):c.3726T>A (p.Tyr1242Ter)
NM_153240.5(NPHP3):c.3734C>A (p.Ala1245Glu) rs1939065629
NM_153240.5(NPHP3):c.3734C>T (p.Ala1245Val)
NM_153240.5(NPHP3):c.373C>T (p.Arg125Trp) rs1483057605
NM_153240.5(NPHP3):c.3757C>A (p.Leu1253Met)
NM_153240.5(NPHP3):c.3764G>A (p.Arg1255Gln)
NM_153240.5(NPHP3):c.3773C>A (p.Pro1258His) rs778016120
NM_153240.5(NPHP3):c.3785A>G (p.Glu1262Gly) rs1489156590
NM_153240.5(NPHP3):c.3787A>G (p.Thr1263Ala) rs1939063603
NM_153240.5(NPHP3):c.3787del (p.Thr1263fs) rs2107961294
NM_153240.5(NPHP3):c.3807G>A (p.Val1269=)
NM_153240.5(NPHP3):c.3809T>C (p.Leu1270Pro) rs794727430
NM_153240.5(NPHP3):c.3810dup (p.Ser1271Ter)
NM_153240.5(NPHP3):c.3812+16_3812+17del
NM_153240.5(NPHP3):c.3812+1G>T rs1459151671
NM_153240.5(NPHP3):c.3812+4A>T
NM_153240.5(NPHP3):c.3813-12TC[2]
NM_153240.5(NPHP3):c.3813-12del rs2107960657
NM_153240.5(NPHP3):c.3813-18_3813-17del
NM_153240.5(NPHP3):c.3820G>T (p.Gly1274Ter) rs1939045407
NM_153240.5(NPHP3):c.3821GAG[1] (p.Gly1275del) rs119456959
NM_153240.5(NPHP3):c.3832G>C (p.Glu1278Gln) rs1472447484
NM_153240.5(NPHP3):c.3833A>T (p.Glu1278Val) rs757964370
NM_153240.5(NPHP3):c.3838G>A (p.Ala1280Thr)
NM_153240.5(NPHP3):c.3841G>A (p.Ala1281Thr) rs1939044718
NM_153240.5(NPHP3):c.3846A>G (p.Glu1282=)
NM_153240.5(NPHP3):c.3857G>A (p.Arg1286Lys) rs2107960602
NM_153240.5(NPHP3):c.3858G>T (p.Arg1286Ser)
NM_153240.5(NPHP3):c.3872AAG[1] (p.Glu1292del) rs1200012206
NM_153240.5(NPHP3):c.3884C>T (p.Thr1295Ile)
NM_153240.5(NPHP3):c.3885A>G (p.Thr1295=)
NM_153240.5(NPHP3):c.3891C>T (p.Leu1297=) rs1436695205
NM_153240.5(NPHP3):c.3892T>C (p.Leu1298=)
NM_153240.5(NPHP3):c.389T>A (p.Leu130Gln) rs2108007468
NM_153240.5(NPHP3):c.391C>T (p.Gln131Ter)
NM_153240.5(NPHP3):c.392A>G (p.Gln131Arg)
NM_153240.5(NPHP3):c.393+11G>A
NM_153240.5(NPHP3):c.393+16G>T
NM_153240.5(NPHP3):c.393+19G>A
NM_153240.5(NPHP3):c.393+20C>G
NM_153240.5(NPHP3):c.393+5C>T
NM_153240.5(NPHP3):c.393+7C>T
NM_153240.5(NPHP3):c.393+8del
NM_153240.5(NPHP3):c.3935C>T (p.Thr1312Met)
NM_153240.5(NPHP3):c.394-17_394-15del rs766909353
NM_153240.5(NPHP3):c.394-20A>G
NM_153240.5(NPHP3):c.394-35_394-20del rs771153447
NM_153240.5(NPHP3):c.394-4C>G
NM_153240.5(NPHP3):c.3959C>A (p.Ser1320Tyr) rs1350855452
NM_153240.5(NPHP3):c.3964_3966del (p.Asn1322del) rs779824626
NM_153240.5(NPHP3):c.396A>T (p.Ala132=)
NM_153240.5(NPHP3):c.402A>G (p.Gln134=) rs2108003851
NM_153240.5(NPHP3):c.403A>G (p.Lys135Glu) rs2108003849
NM_153240.5(NPHP3):c.406del (p.Thr136fs) rs1379989124
NM_153240.5(NPHP3):c.409dup (p.Tyr137fs)
NM_153240.5(NPHP3):c.40G>A (p.Glu14Lys) rs761435204
NM_153240.5(NPHP3):c.410del (p.Tyr137fs) rs1560017690
NM_153240.5(NPHP3):c.428A>G (p.Glu143Gly) rs1576688460
NM_153240.5(NPHP3):c.434_437del (p.Glu145fs) rs763300393
NM_153240.5(NPHP3):c.436del (p.Ser146fs) rs1940156340
NM_153240.5(NPHP3):c.445G>A (p.Glu149Lys) rs1940155952
NM_153240.5(NPHP3):c.449C>G (p.Ala150Gly)
NM_153240.5(NPHP3):c.457C>T (p.Gln153Ter)
NM_153240.5(NPHP3):c.460G>C (p.Ala154Pro) rs1553775398
NM_153240.5(NPHP3):c.463A>G (p.Met155Val) rs780207607
NM_153240.5(NPHP3):c.46A>G (p.Ile16Val)
NM_153240.5(NPHP3):c.473C>T (p.Ala158Val) rs1940154883
NM_153240.5(NPHP3):c.474A>G (p.Ala158=) rs758512712
NM_153240.5(NPHP3):c.48C>A (p.Ile16=) rs760044628
NM_153240.5(NPHP3):c.502G>A (p.Val168Ile)
NM_153240.5(NPHP3):c.519+11del rs2108003644
NM_153240.5(NPHP3):c.519+13C>A
NM_153240.5(NPHP3):c.519+13C>T
NM_153240.5(NPHP3):c.520-10C>A rs200144727
NM_153240.5(NPHP3):c.520-13A>G
NM_153240.5(NPHP3):c.520-20T>C
NM_153240.5(NPHP3):c.520A>T (p.Ile174Phe) rs1553775338
NM_153240.5(NPHP3):c.523T>G (p.Phe175Val)
NM_153240.5(NPHP3):c.531G>A (p.Glu177=)
NM_153240.5(NPHP3):c.545A>G (p.Glu182Gly)
NM_153240.5(NPHP3):c.561G>A (p.Leu187=) rs1194475374
NM_153240.5(NPHP3):c.572G>A (p.Arg191Lys)
NM_153240.5(NPHP3):c.573G>A (p.Arg191=)
NM_153240.5(NPHP3):c.576G>A (p.Glu192=)
NM_153240.5(NPHP3):c.577T>C (p.Leu193=)
NM_153240.5(NPHP3):c.57G>A (p.Thr19=)
NM_153240.5(NPHP3):c.57G>T (p.Thr19=)
NM_153240.5(NPHP3):c.598C>G (p.Leu200Val) rs1940132912
NM_153240.5(NPHP3):c.603G>C (p.Gln201His) rs2108002802
NM_153240.5(NPHP3):c.60C>G (p.Tyr20Ter) rs773521620
NM_153240.5(NPHP3):c.60C>T (p.Tyr20=)
NM_153240.5(NPHP3):c.613A>G (p.Ile205Val) rs1940132597
NM_153240.5(NPHP3):c.625G>A (p.Asp209Asn) rs1940132320
NM_153240.5(NPHP3):c.627T>C (p.Asp209=) rs2108002787
NM_153240.5(NPHP3):c.632G>T (p.Gly211Val)
NM_153240.5(NPHP3):c.633G>A (p.Gly211=)
NM_153240.5(NPHP3):c.634dup (p.Glu212fs) rs747052534
NM_153240.5(NPHP3):c.644C>T (p.Ser215Leu) rs1940131512
NM_153240.5(NPHP3):c.652A>G (p.Asn218Asp) rs2108002751
NM_153240.5(NPHP3):c.666C>T (p.Val222=) rs2108002721
NM_153240.5(NPHP3):c.66G>T (p.Ala22=)
NM_153240.5(NPHP3):c.670+10_670+11insGG
NM_153240.5(NPHP3):c.670+13C>A
NM_153240.5(NPHP3):c.670+13C>T rs202228115
NM_153240.5(NPHP3):c.670+14del
NM_153240.5(NPHP3):c.670+19dup
NM_153240.5(NPHP3):c.670+9A>G rs2108002703
NM_153240.5(NPHP3):c.671-14C>G
NM_153240.5(NPHP3):c.671-9G>C
NM_153240.5(NPHP3):c.707_716del (p.Ala236fs) rs1349623728
NM_153240.5(NPHP3):c.727A>G (p.Ile243Val) rs1560016174
NM_153240.5(NPHP3):c.73G>T (p.Gly25Cys)
NM_153240.5(NPHP3):c.75C>G (p.Gly25=) rs746955224
NM_153240.5(NPHP3):c.76G>A (p.Glu26Lys) rs1465502034
NM_153240.5(NPHP3):c.777C>T (p.Ala259=) rs1384613347
NM_153240.5(NPHP3):c.788T>G (p.Ile263Arg)
NM_153240.5(NPHP3):c.799G>C (p.Gly267Arg)
NM_153240.5(NPHP3):c.79G>A (p.Ala27Thr) rs2108008230
NM_153240.5(NPHP3):c.802C>T (p.Pro268Ser)
NM_153240.5(NPHP3):c.803C>A (p.Pro268His) rs1477838330
NM_153240.5(NPHP3):c.817A>G (p.Asn273Asp)
NM_153240.5(NPHP3):c.819T>C (p.Asn273=) rs2108000058
NM_153240.5(NPHP3):c.823+1G>A
NM_153240.5(NPHP3):c.824-15A>T
NM_153240.5(NPHP3):c.824-4T>C
NM_153240.5(NPHP3):c.824-8A>G
NM_153240.5(NPHP3):c.833A>G (p.Asp278Gly) rs1435611774
NM_153240.5(NPHP3):c.838G>A (p.Ala280Thr) rs2107998548
NM_153240.5(NPHP3):c.845C>G (p.Ala282Gly) rs2107998541
NM_153240.5(NPHP3):c.848G>A (p.Ser283Asn) rs549852830
NM_153240.5(NPHP3):c.851T>C (p.Leu284Ser) rs1248469945
NM_153240.5(NPHP3):c.865C>G (p.Pro289Ala) rs774133053
NM_153240.5(NPHP3):c.895A>G (p.Thr299Ala) rs1306139800
NM_153240.5(NPHP3):c.896C>G (p.Thr299Ser) rs1940015669
NM_153240.5(NPHP3):c.913A>G (p.Ile305Val) rs886058004
NM_153240.5(NPHP3):c.920C>T (p.Thr307Ile) rs535433647
NM_153240.5(NPHP3):c.923A>G (p.Asp308Gly) rs1940014734
NM_153240.5(NPHP3):c.957+14T>G
NM_153240.5(NPHP3):c.957+16_957+24del
NM_153240.5(NPHP3):c.957+18T>C
NM_153240.5(NPHP3):c.957+6G>A
NM_153240.5(NPHP3):c.958-4T>C rs2107996443
NM_153240.5(NPHP3):c.961T>C (p.Tyr321His)
NM_153240.5(NPHP3):c.991A>G (p.Thr331Ala) rs113091599
NM_153240.5(NPHP3):c.993A>G (p.Thr331=) rs1939961664
Single allele

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