NM_153717.3(EVC):c.284A>G (p.Asp95Gly)
|
rs41269547
|
0.00561
|
NM_015102.5(NPHP4):c.3329C>T (p.Ala1110Val)
|
rs139767853
|
0.00374
|
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_001023570.4(IQCB1):c.560T>A (p.Met187Lys)
|
rs146796158
|
0.00067
|
NM_001128178.3(NPHP1):c.1419A>G (p.Ile473Met)
|
rs147945403
|
0.00059
|
NM_014425.5(INVS):c.2386C>G (p.Gln796Glu)
|
rs147731667
|
0.00058
|
NM_015102.4(NPHP4):c.-235G>A
|
rs765435500
|
0.00058
|
NM_153240.4(NPHP3):c.-70C>T
|
rs886058006
|
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_014425.5(INVS):c.1971C>G (p.Asp657Glu)
|
rs114942117
|
0.00048
|
NM_014425.5(INVS):c.2785A>G (p.Ser929Gly)
|
rs116188920
|
0.00048
|
NM_001128178.3(NPHP1):c.771+134G>A
|
rs140151060
|
0.00046
|
NM_015102.5(NPHP4):c.2531C>T (p.Pro844Leu)
|
rs186014615
|
0.00042
|
NM_015102.5(NPHP4):c.3899G>A (p.Ser1300Asn)
|
rs115869141
|
0.00042
|
NM_015102.5(NPHP4):c.1850C>T (p.Ala617Val)
|
rs190522911
|
0.00041
|
NM_015102.5(NPHP4):c.1478C>T (p.Pro493Leu)
|
rs201801114
|
0.00039
|
NM_001023570.4(IQCB1):c.322C>T (p.Leu108Phe)
|
rs146580215
|
0.00036
|
NM_015102.5(NPHP4):c.3161G>A (p.Arg1054His)
|
rs369950850
|
0.00036
|
NM_153240.5(NPHP3):c.2881C>G (p.Gln961Glu)
|
rs144989330
|
0.00036
|
NM_014425.5(INVS):c.2056A>G (p.Arg686Gly)
|
rs150001738
|
0.00034
|
NM_015102.5(NPHP4):c.2045G>A (p.Arg682Gln)
|
rs543023683
|
0.00034
|
NM_015102.5(NPHP4):c.3859C>G (p.Gln1287Glu)
|
rs201779243
|
0.00034
|
NM_015102.5(NPHP4):c.4034G>A (p.Gly1345Asp)
|
rs200407553
|
0.00034
|
NM_015102.5(NPHP4):c.2714G>A (p.Ser905Asn)
|
rs368298952
|
0.00033
|
NM_015102.5(NPHP4):c.3110A>C (p.Glu1037Ala)
|
rs200310448
|
0.00031
|
NM_001128178.3(NPHP1):c.619C>G (p.Leu207Val)
|
rs144088139
|
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.257C>T (p.Pro86Leu)
|
rs201998215
|
0.00027
|
NM_015102.5(NPHP4):c.2142T>A (p.Ala714=)
|
rs199912631
|
0.00026
|
NM_015102.5(NPHP4):c.3385G>A (p.Val1129Met)
|
rs372934556
|
0.00026
|
NM_015102.5(NPHP4):c.1114G>A (p.Gly372Ser)
|
rs188020560
|
0.00025
|
NM_015102.5(NPHP4):c.1844A>G (p.Gln615Arg)
|
rs371424317
|
0.00025
|
NM_015102.5(NPHP4):c.1127C>T (p.Ser376Leu)
|
rs372414566
|
0.00024
|
NM_015102.5(NPHP4):c.3175G>A (p.Ala1059Thr)
|
rs202004152
|
0.00024
|
NM_015102.5(NPHP4):c.419C>T (p.Pro140Leu)
|
rs370837214
|
0.00024
|
NM_015102.5(NPHP4):c.790G>A (p.Val264Ile)
|
rs772753780
|
0.00024
|
NM_001128178.3(NPHP1):c.771+89A>G
|
rs139787582
|
0.00023
|
NM_001128178.3(NPHP1):c.771+2C>T
|
rs189320299
|
0.00022
|
NM_014425.5(INVS):c.2200C>T (p.Arg734Trp)
|
rs370949695
|
0.00022
|
NM_015102.4(NPHP4):c.-236C>T
|
rs185912310
|
0.00022
|
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.2129G>A (p.Gly710Asp)
|
rs563684894
|
0.00019
|
NM_015102.5(NPHP4):c.2230G>A (p.Val744Met)
|
rs199712626
|
0.00019
|
NM_015102.5(NPHP4):c.3518G>A (p.Arg1173His)
|
rs137932153
|
0.00019
|
NM_001128178.3(NPHP1):c.1721C>T (p.Ser574Leu)
|
rs138181219
|
0.00018
|
NM_015102.5(NPHP4):c.1813G>A (p.Gly605Ser)
|
rs201282741
|
0.00018
|
NM_014956.5(CEP164):c.4060G>A (p.Asp1354Asn)
|
rs200520898
|
0.00017
|
NM_015102.5(NPHP4):c.3131G>A (p.Arg1044His)
|
rs375819124
|
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.2834G>A (p.Arg945His)
|
rs201531378
|
0.00016
|
NM_015102.5(NPHP4):c.467A>G (p.His156Arg)
|
rs199897869
|
0.00016
|
NM_001023570.4(IQCB1):c.1153G>C (p.Glu385Gln)
|
rs772153735
|
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.563C>T (p.Thr188Met)
|
rs200711763
|
0.00015
|
NM_153240.5(NPHP3):c.670+6T>C
|
rs190074663
|
0.00015
|
NM_001384732.1(CPLANE1):c.424G>A (p.Glu142Lys)
|
rs756856188
|
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.3352G>A (p.Val1118Met)
|
rs368703067
|
0.00014
|
NM_015102.5(NPHP4):c.4099G>A (p.Asp1367Asn)
|
rs367636423
|
0.00014
|
NM_153240.5(NPHP3):c.1813C>T (p.Arg605Cys)
|
rs144731534
|
0.00014
|
NM_015102.5(NPHP4):c.1319C>T (p.Ser440Leu)
|
rs749571139
|
0.00013
|
NM_015102.5(NPHP4):c.274A>G (p.Asn92Asp)
|
rs762383978
|
0.00013
|
NM_015102.5(NPHP4):c.3996+3C>T
|
rs373386232
|
0.00013
|
NM_015102.5(NPHP4):c.868G>T (p.Gly290Cys)
|
rs755124987
|
0.00013
|
NM_153240.5(NPHP3):c.1930G>A (p.Val644Met)
|
rs1238689431
|
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_015102.5(NPHP4):c.1376C>A (p.Thr459Lys)
|
rs371819898
|
0.00012
|
NM_015102.5(NPHP4):c.2603G>A (p.Ser868Asn)
|
rs763576044
|
0.00012
|
NM_015102.5(NPHP4):c.279+6C>T
|
rs199856317
|
0.00012
|
NM_014425.5(INVS):c.706G>A (p.Val236Met)
|
rs150883233
|
0.00011
|
NM_015102.5(NPHP4):c.2642C>T (p.Ala881Val)
|
rs369335626
|
0.00011
|
NM_015102.5(NPHP4):c.2800C>T (p.Arg934Cys)
|
rs774737760
|
0.00011
|
NM_015102.5(NPHP4):c.3011C>T (p.Thr1004Met)
|
rs528511138
|
0.00011
|
NM_015102.5(NPHP4):c.3052G>A (p.Val1018Met)
|
rs201433248
|
0.00011
|
NM_032575.3(GLIS2):c.304C>T (p.Arg102Cys)
|
rs371434004
|
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_001128178.3(NPHP1):c.805G>A (p.Gly269Arg)
|
rs768608137
|
0.00010
|
NM_014425.5(INVS):c.2776G>A (p.Ala926Thr)
|
rs374891838
|
0.00010
|
NM_015102.5(NPHP4):c.1126T>G (p.Ser376Ala)
|
rs199561679
|
0.00010
|
NM_015102.5(NPHP4):c.1541C>T (p.Pro514Leu)
|
rs367694436
|
0.00010
|
NM_015102.5(NPHP4):c.2569C>T (p.Arg857Cys)
|
rs372688518
|
0.00010
|
NM_015102.5(NPHP4):c.2830G>A (p.Val944Ile)
|
rs188262700
|
0.00010
|
NM_015102.5(NPHP4):c.3895G>A (p.Gly1299Ser)
|
rs371368653
|
0.00010
|
NM_015102.5(NPHP4):c.4105C>T (p.Pro1369Ser)
|
rs376675995
|
0.00010
|
NM_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_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.284G>A (p.Arg95His)
|
rs372088206
|
0.00009
|
NM_014425.5(INVS):c.307C>T (p.Arg103Cys)
|
rs750863293
|
0.00009
|
NM_015102.5(NPHP4):c.1230G>T (p.Gln410His)
|
rs368074369
|
0.00009
|
NM_015102.5(NPHP4):c.176G>A (p.Arg59Gln)
|
rs200128117
|
0.00009
|
NM_015102.5(NPHP4):c.2951C>T (p.Thr984Met)
|
rs377729557
|
0.00009
|
NM_015102.5(NPHP4):c.3046G>A (p.Val1016Ile)
|
rs200702924
|
0.00009
|
NM_015102.5(NPHP4):c.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_032575.3(GLIS2):c.1177G>A (p.Gly393Arg)
|
rs759416922
|
0.00009
|
NM_032575.3(GLIS2):c.1273G>A (p.Gly425Arg)
|
rs199849300
|
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.2335C>T (p.Arg779Trp)
|
rs370643191
|
0.00008
|
NM_014425.5(INVS):c.2740C>T (p.Arg914Cys)
|
rs201904771
|
0.00008
|
NM_015102.5(NPHP4):c.2093C>T (p.Ala698Val)
|
rs745698836
|
0.00008
|
NM_015102.5(NPHP4):c.2543G>A (p.Arg848Gln)
|
rs398124288
|
0.00008
|
NM_015102.5(NPHP4):c.2723C>T (p.Ser908Leu)
|
rs543726103
|
0.00008
|
NM_015102.5(NPHP4):c.2833C>T (p.Arg945Cys)
|
rs767344564
|
0.00008
|
NM_153240.5(NPHP3):c.1891G>A (p.Val631Ile)
|
rs765722959
|
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.1727T>C (p.Ile576Thr)
|
rs150073223
|
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.2734C>T (p.Arg912Cys)
|
rs368106760
|
0.00007
|
NM_015102.5(NPHP4):c.2866G>A (p.Ala956Thr)
|
rs369624442
|
0.00007
|
NM_015102.5(NPHP4):c.3160C>T (p.Arg1054Cys)
|
rs373369949
|
0.00007
|
NM_015102.5(NPHP4):c.4019C>T (p.Ala1340Val)
|
rs201560526
|
0.00007
|
NM_032575.3(GLIS2):c.476C>T (p.Ser159Leu)
|
rs374332556
|
0.00007
|
NM_153240.5(NPHP3):c.*231A>T
|
rs753577987
|
0.00007
|
NM_153240.5(NPHP3):c.1533A>T (p.Gln511His)
|
rs368126549
|
0.00007
|
NM_153240.5(NPHP3):c.2986G>A (p.Val996Met)
|
rs150867534
|
0.00007
|
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.202A>C (p.Lys68Gln)
|
rs748557384
|
0.00006
|
NM_014425.5(INVS):c.2444G>A (p.Arg815Gln)
|
rs200477298
|
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.2198G>A (p.Gly733Asp)
|
rs587783027
|
0.00006
|
NM_015102.5(NPHP4):c.2306A>T (p.His769Leu)
|
rs200821373
|
0.00006
|
NM_015102.5(NPHP4):c.254C>T (p.Pro85Leu)
|
rs200272048
|
0.00006
|
NM_015102.5(NPHP4):c.279G>T (p.Glu93Asp)
|
rs775927621
|
0.00006
|
NM_015102.5(NPHP4):c.2881C>T (p.Arg961Cys)
|
rs376773394
|
0.00006
|
NM_015102.5(NPHP4):c.2893G>A (p.Glu965Lys)
|
rs192464308
|
0.00006
|
NM_015102.5(NPHP4):c.2939C>T (p.Thr980Met)
|
rs199645515
|
0.00006
|
NM_015102.5(NPHP4):c.3104C>T (p.Pro1035Leu)
|
rs376508978
|
0.00006
|
NM_015102.5(NPHP4):c.3118A>G (p.Met1040Val)
|
rs777310738
|
0.00006
|
NM_015102.5(NPHP4):c.3169G>A (p.Glu1057Lys)
|
rs755465110
|
0.00006
|
NM_015102.5(NPHP4):c.3231+5G>A
|
rs886046460
|
0.00006
|
NM_015102.5(NPHP4):c.3703C>T (p.Arg1235Cys)
|
rs774386141
|
0.00006
|
NM_015102.5(NPHP4):c.3757C>T (p.Arg1253Trp)
|
rs762195159
|
0.00006
|
NM_015102.5(NPHP4):c.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.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_015272.5(RPGRIP1L):c.*901A>G
|
rs750903762
|
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.1873A>G (p.Ile625Val)
|
rs745831184
|
0.00006
|
NM_153240.5(NPHP3):c.1976C>T (p.Pro659Leu)
|
rs147836124
|
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.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.393G>C (p.Gln131His)
|
rs757835884
|
0.00006
|
NM_153240.5(NPHP3):c.548T>C (p.Ile183Thr)
|
rs563850993
|
0.00006
|
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.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.524T>C (p.Ile175Thr)
|
rs766187142
|
0.00005
|
NM_014425.5(INVS):c.800A>G (p.His267Arg)
|
rs747248321
|
0.00005
|
NM_015102.5(NPHP4):c.1129G>A (p.Val377Ile)
|
rs751685493
|
0.00005
|
NM_015102.5(NPHP4):c.1709A>G (p.Glu570Gly)
|
rs200634524
|
0.00005
|
NM_015102.5(NPHP4):c.2143+3G>T
|
rs762882392
|
0.00005
|
NM_015102.5(NPHP4):c.2323C>T (p.Arg775Trp)
|
rs768582000
|
0.00005
|
NM_015102.5(NPHP4):c.2594C>T (p.Thr865Met)
|
rs368898819
|
0.00005
|
NM_015102.5(NPHP4):c.2647G>A (p.Val883Met)
|
rs769851221
|
0.00005
|
NM_015102.5(NPHP4):c.2798G>A (p.Arg933Gln)
|
rs768347263
|
0.00005
|
NM_015102.5(NPHP4):c.2885C>T (p.Thr962Met)
|
rs552595155
|
0.00005
|
NM_015102.5(NPHP4):c.3037G>A (p.Glu1013Lys)
|
rs771042265
|
0.00005
|
NM_015102.5(NPHP4):c.3434A>G (p.Lys1145Arg)
|
rs923103631
|
0.00005
|
NM_015102.5(NPHP4):c.3686A>G (p.Tyr1229Cys)
|
rs374390513
|
0.00005
|
NM_015102.5(NPHP4):c.3706G>A (p.Val1236Met)
|
rs781049266
|
0.00005
|
NM_015102.5(NPHP4):c.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.1129G>A (p.Gly377Ser)
|
rs758967813
|
0.00005
|
NM_153240.5(NPHP3):c.209T>C (p.Leu70Pro)
|
rs867826443
|
0.00005
|
NM_153240.5(NPHP3):c.3722T>C (p.Leu1241Ser)
|
rs756330976
|
0.00005
|
NM_001023570.4(IQCB1):c.1093G>A (p.Glu365Lys)
|
rs371844518
|
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.1657C>T (p.His553Tyr)
|
rs766439338
|
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.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.903G>A (p.Met301Ile)
|
rs375386218
|
0.00004
|
NM_001128178.3(NPHP1):c.941C>G (p.Ala314Gly)
|
rs375317119
|
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.1490G>A (p.Cys497Tyr)
|
rs1296545586
|
0.00004
|
NM_014425.5(INVS):c.1913G>A (p.Arg638Gln)
|
rs761806481
|
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_015102.5(NPHP4):c.1118A>G (p.Asn373Ser)
|
rs556579725
|
0.00004
|
NM_015102.5(NPHP4):c.1168C>T (p.Arg390Cys)
|
rs748941493
|
0.00004
|
NM_015102.5(NPHP4):c.1192C>A (p.Leu398Met)
|
rs200378192
|
0.00004
|
NM_015102.5(NPHP4):c.1448C>G (p.Pro483Arg)
|
rs759608529
|
0.00004
|
NM_015102.5(NPHP4):c.1634G>A (p.Gly545Asp)
|
rs200800785
|
0.00004
|
NM_015102.5(NPHP4):c.1822G>A (p.Glu608Lys)
|
rs780231735
|
0.00004
|
NM_015102.5(NPHP4):c.1874C>T (p.Pro625Leu)
|
rs377160096
|
0.00004
|
NM_015102.5(NPHP4):c.1973G>A (p.Arg658Gln)
|
rs767073232
|
0.00004
|
NM_015102.5(NPHP4):c.2752C>T (p.Arg918Trp)
|
rs767779934
|
0.00004
|
NM_015102.5(NPHP4):c.2869G>A (p.Ala957Thr)
|
rs772593921
|
0.00004
|
NM_015102.5(NPHP4):c.2927C>T (p.Thr976Ile)
|
rs756219438
|
0.00004
|
NM_015102.5(NPHP4):c.2947G>A (p.Ala983Thr)
|
rs760239548
|
0.00004
|
NM_015102.5(NPHP4):c.2962G>A (p.Ala988Thr)
|
rs770053255
|
0.00004
|
NM_015102.5(NPHP4):c.3073G>C (p.Asp1025His)
|
rs760874774
|
0.00004
|
NM_015102.5(NPHP4):c.3092G>C (p.Gly1031Ala)
|
rs775526590
|
0.00004
|
NM_015102.5(NPHP4):c.319G>A (p.Val107Met)
|
rs377738968
|
0.00004
|
NM_015102.5(NPHP4):c.3310G>A (p.Ala1104Thr)
|
rs747313030
|
0.00004
|
NM_015102.5(NPHP4):c.3403C>T (p.Arg1135Cys)
|
rs374387338
|
0.00004
|
NM_015102.5(NPHP4):c.356G>A (p.Arg119Gln)
|
rs748420916
|
0.00004
|
NM_015102.5(NPHP4):c.3739C>T (p.Arg1247Cys)
|
rs377686745
|
0.00004
|
NM_015102.5(NPHP4):c.3901C>T (p.Arg1301Cys)
|
rs766610686
|
0.00004
|
NM_015102.5(NPHP4):c.4075C>T (p.Arg1359Trp)
|
rs369162678
|
0.00004
|
NM_015102.5(NPHP4):c.494C>T (p.Pro165Leu)
|
rs750994795
|
0.00004
|
NM_015102.5(NPHP4):c.503A>G (p.Gln168Arg)
|
rs762284065
|
0.00004
|
NM_015102.5(NPHP4):c.593C>T (p.Ala198Val)
|
rs370410995
|
0.00004
|
NM_015102.5(NPHP4):c.674-8T>G
|
rs772596216
|
0.00004
|
NM_015102.5(NPHP4):c.997G>A (p.Gly333Arg)
|
rs772219240
|
0.00004
|
NM_032575.3(GLIS2):c.1539G>A (p.Pro513=)
|
rs769088578
|
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.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.2423A>C (p.Lys808Thr)
|
rs763361711
|
0.00004
|
NM_153240.5(NPHP3):c.2770G>A (p.Asp924Asn)
|
rs141073933
|
0.00004
|
NM_153240.5(NPHP3):c.3601G>A (p.Glu1201Lys)
|
rs529119466
|
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.1279G>A (p.Ala427Thr)
|
rs776989189
|
0.00003
|
NM_001023570.4(IQCB1):c.1567+3A>G
|
rs1403759372
|
0.00003
|
NM_001023570.4(IQCB1):c.1632_1638dup (p.Ala547fs)
|
rs767295178
|
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.620T>C (p.Leu207Pro)
|
rs764639627
|
0.00003
|
NM_001023570.4(IQCB1):c.62C>T (p.Pro21Leu)
|
rs370459157
|
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.1943C>G (p.Ala648Gly)
|
rs779089046
|
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.1065A>C (p.Lys355Asn)
|
rs146667666
|
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.1727G>A (p.Arg576Gln)
|
rs758506682
|
0.00003
|
NM_014425.5(INVS):c.1815G>C (p.Glu605Asp)
|
rs540466137
|
0.00003
|
NM_014425.5(INVS):c.2272G>A (p.Glu758Lys)
|
rs767989658
|
0.00003
|
NM_014425.5(INVS):c.2279C>T (p.Ser760Phe)
|
rs1324519096
|
0.00003
|
NM_014425.5(INVS):c.2819G>A (p.Arg940Gln)
|
rs369751285
|
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.815A>C (p.His272Pro)
|
rs151080341
|
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.1408C>T (p.Arg470Trp)
|
rs367686843
|
0.00003
|
NM_015102.5(NPHP4):c.1430C>T (p.Thr477Met)
|
rs886043364
|
0.00003
|
NM_015102.5(NPHP4):c.143T>C (p.Leu48Pro)
|
rs374239338
|
0.00003
|
NM_015102.5(NPHP4):c.1715C>T (p.Pro572Leu)
|
rs183722664
|
0.00003
|
NM_015102.5(NPHP4):c.2020C>T (p.Arg674Cys)
|
rs748042945
|
0.00003
|
NM_015102.5(NPHP4):c.2032G>A (p.Ala678Thr)
|
rs368101076
|
0.00003
|
NM_015102.5(NPHP4):c.2246T>C (p.Ile749Thr)
|
rs372250881
|
0.00003
|
NM_015102.5(NPHP4):c.2419C>T (p.Arg807Cys)
|
rs770004315
|
0.00003
|
NM_015102.5(NPHP4):c.2513G>A (p.Gly838Asp)
|
rs1233207932
|
0.00003
|
NM_015102.5(NPHP4):c.2527C>G (p.Pro843Ala)
|
rs775263560
|
0.00003
|
NM_015102.5(NPHP4):c.2620G>A (p.Val874Met)
|
rs1412960310
|
0.00003
|
NM_015102.5(NPHP4):c.2818-20C>T
|
rs794727344
|
0.00003
|
NM_015102.5(NPHP4):c.2849G>A (p.Arg950Gln)
|
rs762546912
|
0.00003
|
NM_015102.5(NPHP4):c.3059G>C (p.Ser1020Thr)
|
rs754216736
|
0.00003
|
NM_015102.5(NPHP4):c.3226G>C (p.Val1076Leu)
|
rs766365388
|
0.00003
|
NM_015102.5(NPHP4):c.3232-11G>A
|
rs191631053
|
0.00003
|
NM_015102.5(NPHP4):c.3268G>A (p.Ala1090Thr)
|
rs573269001
|
0.00003
|
NM_015102.5(NPHP4):c.3452C>T (p.Pro1151Leu)
|
rs549077156
|
0.00003
|
NM_015102.5(NPHP4):c.3535G>T (p.Val1179Phe)
|
rs757359430
|
0.00003
|
NM_015102.5(NPHP4):c.3555T>A (p.Asn1185Lys)
|
rs753555544
|
0.00003
|
NM_015102.5(NPHP4):c.3575G>A (p.Arg1192Gln)
|
rs539967736
|
0.00003
|
NM_015102.5(NPHP4):c.3611C>T (p.Pro1204Leu)
|
rs199625626
|
0.00003
|
NM_015102.5(NPHP4):c.3740G>A (p.Arg1247His)
|
rs200623969
|
0.00003
|
NM_015102.5(NPHP4):c.3882G>T (p.Arg1294Ser)
|
rs367814493
|
0.00003
|
NM_015102.5(NPHP4):c.3961G>A (p.Val1321Met)
|
rs372485746
|
0.00003
|
NM_015102.5(NPHP4):c.4076G>A (p.Arg1359Gln)
|
rs766202367
|
0.00003
|
NM_015102.5(NPHP4):c.4106C>T (p.Pro1369Leu)
|
rs746256511
|
0.00003
|
NM_015102.5(NPHP4):c.490C>T (p.His164Tyr)
|
rs761063669
|
0.00003
|
NM_015272.5(RPGRIP1L):c.3362C>T (p.Pro1121Leu)
|
rs886052093
|
0.00003
|
NM_032575.3(GLIS2):c.101G>A (p.Arg34His)
|
rs377037409
|
0.00003
|
NM_032575.3(GLIS2):c.56C>T (p.Ala19Val)
|
rs560306322
|
0.00003
|
NM_153240.5(NPHP3):c.1027A>G (p.Ile343Val)
|
rs372145755
|
0.00003
|
NM_153240.5(NPHP3):c.188G>A (p.Gly63Glu)
|
rs763699273
|
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.2531A>G (p.Tyr844Cys)
|
rs752254827
|
0.00003
|
NM_153240.5(NPHP3):c.2978G>A (p.Ser993Asn)
|
rs1060503156
|
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_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.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.814C>G (p.Gln272Glu)
|
rs760296374
|
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_001128178.3(NPHP1):c.104A>G (p.Glu35Gly)
|
rs368025611
|
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.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.385_387del (p.Ser129del)
|
rs753643526
|
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.872G>A (p.Arg291Gln)
|
rs751387472
|
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.2009T>C (p.Leu670Pro)
|
rs762112247
|
0.00002
|
NM_014425.5(INVS):c.2204G>A (p.Cys735Tyr)
|
rs375485537
|
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.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_015102.5(NPHP4):c.1063G>T (p.Ala355Ser)
|
rs761112031
|
0.00002
|
NM_015102.5(NPHP4):c.109T>C (p.Trp37Arg)
|
rs770741381
|
0.00002
|
NM_015102.5(NPHP4):c.1343C>T (p.Ser448Leu)
|
rs367909950
|
0.00002
|
NM_015102.5(NPHP4):c.1418G>T (p.Arg473Met)
|
rs754829412
|
0.00002
|
NM_015102.5(NPHP4):c.1471G>A (p.Ala491Thr)
|
rs200462413
|
0.00002
|
NM_015102.5(NPHP4):c.152T>C (p.Leu51Pro)
|
rs775055035
|
0.00002
|
NM_015102.5(NPHP4):c.1585G>A (p.Gly529Ser)
|
rs750626428
|
0.00002
|
NM_015102.5(NPHP4):c.1929G>A (p.Met643Ile)
|
rs779995407
|
0.00002
|
NM_015102.5(NPHP4):c.1996G>A (p.Val666Met)
|
rs372909916
|
0.00002
|
NM_015102.5(NPHP4):c.2006C>T (p.Thr669Ile)
|
rs368327650
|
0.00002
|
NM_015102.5(NPHP4):c.2091C>T (p.Gly697=)
|
rs531162424
|
0.00002
|
NM_015102.5(NPHP4):c.2116G>T (p.Val706Leu)
|
rs755418982
|
0.00002
|
NM_015102.5(NPHP4):c.2304+6G>A
|
rs751418752
|
0.00002
|
NM_015102.5(NPHP4):c.2429C>T (p.Pro810Leu)
|
rs577635238
|
0.00002
|
NM_015102.5(NPHP4):c.2444C>T (p.Ser815Leu)
|
rs202165848
|
0.00002
|
NM_015102.5(NPHP4):c.2686C>T (p.Arg896Trp)
|
rs754364004
|
0.00002
|
NM_015102.5(NPHP4):c.2740C>T (p.Arg914Cys)
|
rs373603595
|
0.00002
|
NM_015102.5(NPHP4):c.2956G>A (p.Gly986Arg)
|
rs370946873
|
0.00002
|
NM_015102.5(NPHP4):c.2998A>G (p.Asn1000Asp)
|
rs766073255
|
0.00002
|
NM_015102.5(NPHP4):c.3032A>G (p.Asn1011Ser)
|
rs369529384
|
0.00002
|
NM_015102.5(NPHP4):c.3200G>C (p.Ser1067Thr)
|
rs1313851585
|
0.00002
|
NM_015102.5(NPHP4):c.3241G>C (p.Gly1081Arg)
|
rs373981841
|
0.00002
|
NM_015102.5(NPHP4):c.3335G>A (p.Gly1112Asp)
|
rs755637892
|
0.00002
|
NM_015102.5(NPHP4):c.3630T>G (p.Phe1210Leu)
|
rs758458943
|
0.00002
|
NM_015102.5(NPHP4):c.3649C>T (p.Arg1217Cys)
|
rs751325206
|
0.00002
|
NM_015102.5(NPHP4):c.3659C>T (p.Ala1220Val)
|
rs758049366
|
0.00002
|
NM_015102.5(NPHP4):c.3664C>G (p.Pro1222Ala)
|
rs1038494626
|
0.00002
|
NM_015102.5(NPHP4):c.3724G>A (p.Ala1242Thr)
|
rs370942610
|
0.00002
|
NM_015102.5(NPHP4):c.3816+5G>A
|
rs971158630
|
0.00002
|
NM_015102.5(NPHP4):c.394A>T (p.Ile132Phe)
|
rs745735818
|
0.00002
|
NM_015102.5(NPHP4):c.3977G>A (p.Arg1326His)
|
rs191062831
|
0.00002
|
NM_015102.5(NPHP4):c.4006A>G (p.Ile1336Val)
|
rs760369582
|
0.00002
|
NM_015102.5(NPHP4):c.4144G>A (p.Gly1382Arg)
|
rs761124428
|
0.00002
|
NM_015102.5(NPHP4):c.421G>A (p.Asp141Asn)
|
rs763993912
|
0.00002
|
NM_015102.5(NPHP4):c.578C>T (p.Pro193Leu)
|
rs779760001
|
0.00002
|
NM_015102.5(NPHP4):c.695G>A (p.Arg232His)
|
rs1221753633
|
0.00002
|
NM_015102.5(NPHP4):c.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_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.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.2041A>G (p.Ile681Val)
|
rs1218293876
|
0.00002
|
NM_153240.5(NPHP3):c.2109C>G (p.His703Gln)
|
rs765177103
|
0.00002
|
NM_153240.5(NPHP3):c.215C>T (p.Ala72Val)
|
rs762186797
|
0.00002
|
NM_153240.5(NPHP3):c.2475+3A>G
|
rs201981598
|
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.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.3521C>T (p.Pro1174Leu)
|
rs1411458250
|
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.722C>G (p.Pro241Arg)
|
rs142933414
|
0.00002
|
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.1279-16A>G
|
rs754160972
|
0.00001
|
NM_001023570.4(IQCB1):c.1295C>T (p.Ala432Val)
|
rs150129899
|
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.1420A>G (p.Met474Val)
|
rs764720012
|
0.00001
|
NM_001023570.4(IQCB1):c.1447C>G (p.His483Asp)
|
rs746090954
|
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.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.215G>A (p.Arg72Gln)
|
rs777328728
|
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.369A>C (p.Gln123His)
|
rs970350621
|
0.00001
|
NM_001023570.4(IQCB1):c.446T>C (p.Leu149Pro)
|
rs1949717977
|
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.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.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.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.880C>G (p.Leu294Val)
|
rs756107852
|
0.00001
|
NM_001023570.4(IQCB1):c.90G>C (p.Leu30Phe)
|
rs1246747991
|
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_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.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.1402G>A (p.Glu468Lys)
|
rs1186755904
|
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.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.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.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.1867G>C (p.Glu623Gln)
|
rs1418617951
|
0.00001
|
NM_001128178.3(NPHP1):c.1895T>C (p.Ile632Thr)
|
rs1212945698
|
0.00001
|
NM_001128178.3(NPHP1):c.223G>C (p.Val75Leu)
|
rs760772706
|
0.00001
|
NM_001128178.3(NPHP1):c.330-9T>G
|
rs748197517
|
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.472A>G (p.Ile158Val)
|
rs745768183
|
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.771+137G>A
|
rs779083426
|
0.00001
|
NM_001128178.3(NPHP1):c.771+139A>G
|
rs1345383804
|
0.00001
|
NM_001128178.3(NPHP1):c.817G>A (p.Ala273Thr)
|
rs751003854
|
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.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.1048A>G (p.Ile350Val)
|
rs767638762
|
0.00001
|
NM_014425.5(INVS):c.1056G>C (p.Met352Ile)
|
rs752714293
|
0.00001
|
NM_014425.5(INVS):c.10T>G (p.Ser4Ala)
|
rs1827109569
|
0.00001
|
NM_014425.5(INVS):c.1177C>G (p.Pro393Ala)
|
rs1441776664
|
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.154C>T (p.Leu52Phe)
|
rs758283111
|
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.1686C>G (p.Ile562Met)
|
rs767346175
|
0.00001
|
NM_014425.5(INVS):c.1790G>T (p.Arg597Leu)
|
rs1291135236
|
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.2021A>G (p.Gln674Arg)
|
rs750909979
|
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.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.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.283C>T (p.Arg95Cys)
|
rs1189239222
|
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+5C>T
|
rs142606077
|
0.00001
|
NM_014425.5(INVS):c.301C>T (p.Leu101Phe)
|
rs757623556
|
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.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.500T>C (p.Leu167Pro)
|
rs374420212
|
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.658G>A (p.Glu220Lys)
|
rs759684253
|
0.00001
|
NM_014425.5(INVS):c.727T>C (p.Tyr243His)
|
rs1206942379
|
0.00001
|
NM_014425.5(INVS):c.833A>G (p.Asn278Ser)
|
rs1831914143
|
0.00001
|
NM_014425.5(INVS):c.890C>T (p.Ala297Val)
|
rs759327541
|
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_014714.4(IFT140):c.2176C>G (p.Pro726Ala)
|
rs1057518064
|
0.00001
|
NM_015102.4(NPHP4):c.-225G>A
|
rs886046469
|
0.00001
|
NM_015102.4(NPHP4):c.-237G>C
|
rs867788720
|
0.00001
|
NM_015102.5(NPHP4):c.1006G>C (p.Ala336Pro)
|
rs369951224
|
0.00001
|
NM_015102.5(NPHP4):c.1030C>T (p.Arg344Cys)
|
rs777428281
|
0.00001
|
NM_015102.5(NPHP4):c.1119T>C (p.Asn373=)
|
rs957523362
|
0.00001
|
NM_015102.5(NPHP4):c.1120-7A>G
|
rs1223728002
|
0.00001
|
NM_015102.5(NPHP4):c.1147C>G (p.Leu383Val)
|
rs760606576
|
0.00001
|
NM_015102.5(NPHP4):c.1253C>T (p.Ser418Leu)
|
rs767476133
|
0.00001
|
NM_015102.5(NPHP4):c.1327C>T (p.Leu443Phe)
|
rs756153293
|
0.00001
|
NM_015102.5(NPHP4):c.135+5C>G
|
rs201054350
|
0.00001
|
NM_015102.5(NPHP4):c.1360C>T (p.His454Tyr)
|
rs374792772
|
0.00001
|
NM_015102.5(NPHP4):c.1388G>A (p.Ser463Asn)
|
rs894737324
|
0.00001
|
NM_015102.5(NPHP4):c.139G>A (p.Val47Met)
|
rs1288396418
|
0.00001
|
NM_015102.5(NPHP4):c.1405C>T (p.Arg469Trp)
|
rs758253306
|
0.00001
|
NM_015102.5(NPHP4):c.1406G>A (p.Arg469Gln)
|
rs1320696639
|
0.00001
|
NM_015102.5(NPHP4):c.1511T>G (p.Ile504Ser)
|
rs1209081705
|
0.00001
|
NM_015102.5(NPHP4):c.1532C>T (p.Pro511Leu)
|
rs761974713
|
0.00001
|
NM_015102.5(NPHP4):c.1571C>T (p.Ser524Leu)
|
rs1268005672
|
0.00001
|
NM_015102.5(NPHP4):c.1589C>T (p.Ser530Phe)
|
rs1484484784
|
0.00001
|
NM_015102.5(NPHP4):c.1675G>A (p.Val559Ile)
|
rs931907795
|
0.00001
|
NM_015102.5(NPHP4):c.1781C>T (p.Ser594Leu)
|
rs576761309
|
0.00001
|
NM_015102.5(NPHP4):c.1816T>C (p.Phe606Leu)
|
rs779132051
|
0.00001
|
NM_015102.5(NPHP4):c.1864G>A (p.Ala622Thr)
|
rs1270711258
|
0.00001
|
NM_015102.5(NPHP4):c.1880C>T (p.Thr627Met)
|
rs199891059
|
0.00001
|
NM_015102.5(NPHP4):c.1924G>A (p.Glu642Lys)
|
rs768739130
|
0.00001
|
NM_015102.5(NPHP4):c.202C>T (p.Arg68Trp)
|
rs771873685
|
0.00001
|
NM_015102.5(NPHP4):c.2030C>T (p.Pro677Leu)
|
rs1205793319
|
0.00001
|
NM_015102.5(NPHP4):c.2036C>T (p.Thr679Met)
|
rs780615948
|
0.00001
|
NM_015102.5(NPHP4):c.203G>A (p.Arg68Gln)
|
rs761188193
|
0.00001
|
NM_015102.5(NPHP4):c.2051A>G (p.Gln684Arg)
|
rs200667197
|
0.00001
|
NM_015102.5(NPHP4):c.2092G>A (p.Ala698Thr)
|
rs1159326978
|
0.00001
|
NM_015102.5(NPHP4):c.20T>A (p.Ile7Asn)
|
rs375883167
|
0.00001
|
NM_015102.5(NPHP4):c.2218C>T (p.Arg740Cys)
|
rs766088144
|
0.00001
|
NM_015102.5(NPHP4):c.2237C>G (p.Thr746Ser)
|
rs780500004
|
0.00001
|
NM_015102.5(NPHP4):c.2251G>A (p.Val751Ile)
|
rs754838672
|
0.00001
|
NM_015102.5(NPHP4):c.2278A>G (p.Ile760Val)
|
rs1044293014
|
0.00001
|
NM_015102.5(NPHP4):c.2304+5C>T
|
rs367651042
|
0.00001
|
NM_015102.5(NPHP4):c.2314C>T (p.Arg772Cys)
|
rs149928611
|
0.00001
|
NM_015102.5(NPHP4):c.2359G>A (p.Val787Met)
|
rs753373132
|
0.00001
|
NM_015102.5(NPHP4):c.2386A>G (p.Met796Val)
|
rs762272616
|
0.00001
|
NM_015102.5(NPHP4):c.2420G>A (p.Arg807His)
|
rs376079994
|
0.00001
|
NM_015102.5(NPHP4):c.2459G>A (p.Arg820Gln)
|
rs759656675
|
0.00001
|
NM_015102.5(NPHP4):c.2482G>A (p.Val828Met)
|
rs774129927
|
0.00001
|
NM_015102.5(NPHP4):c.2492C>T (p.Pro831Leu)
|
rs568060648
|
0.00001
|
NM_015102.5(NPHP4):c.2579G>A (p.Gly860Glu)
|
rs1487910110
|
0.00001
|
NM_015102.5(NPHP4):c.2593A>C (p.Thr865Pro)
|
rs1254545749
|
0.00001
|
NM_015102.5(NPHP4):c.2698G>A (p.Gly900Arg)
|
rs1424882864
|
0.00001
|
NM_015102.5(NPHP4):c.2710G>A (p.Val904Ile)
|
rs886046463
|
0.00001
|
NM_015102.5(NPHP4):c.2719G>A (p.Glu907Lys)
|
rs1310354413
|
0.00001
|
NM_015102.5(NPHP4):c.2725G>T (p.Asp909Tyr)
|
rs777493291
|
0.00001
|
NM_015102.5(NPHP4):c.2735G>A (p.Arg912His)
|
rs778343959
|
0.00001
|
NM_015102.5(NPHP4):c.2741G>A (p.Arg914His)
|
rs780517756
|
0.00001
|
NM_015102.5(NPHP4):c.2770C>G (p.Leu924Val)
|
rs770984804
|
0.00001
|
NM_015102.5(NPHP4):c.280-5T>G
|
rs908276068
|
0.00001
|
NM_015102.5(NPHP4):c.283T>G (p.Leu95Val)
|
rs1384846275
|
0.00001
|
NM_015102.5(NPHP4):c.2848C>T (p.Arg950Trp)
|
rs371939932
|
0.00001
|
NM_015102.5(NPHP4):c.2906G>A (p.Ser969Asn)
|
rs770493717
|
0.00001
|
NM_015102.5(NPHP4):c.2959G>A (p.Val987Ile)
|
rs377683582
|
0.00001
|
NM_015102.5(NPHP4):c.3039G>C (p.Glu1013Asp)
|
rs747091960
|
0.00001
|
NM_015102.5(NPHP4):c.3089C>G (p.Ala1030Gly)
|
rs774683576
|
0.00001
|
NM_015102.5(NPHP4):c.3122T>C (p.Phe1041Ser)
|
rs752229026
|
0.00001
|
NM_015102.5(NPHP4):c.3262A>G (p.Met1088Val)
|
rs779109338
|
0.00001
|
NM_015102.5(NPHP4):c.3271G>A (p.Val1091Met)
|
rs761546950
|
0.00001
|
NM_015102.5(NPHP4):c.3349G>A (p.Ala1117Thr)
|
rs764488616
|
0.00001
|
NM_015102.5(NPHP4):c.3404G>A (p.Arg1135His)
|
rs763251283
|
0.00001
|
NM_015102.5(NPHP4):c.3410A>G (p.Tyr1137Cys)
|
rs765444252
|
0.00001
|
NM_015102.5(NPHP4):c.3413A>T (p.His1138Leu)
|
rs200928069
|
0.00001
|
NM_015102.5(NPHP4):c.3416C>T (p.Pro1139Leu)
|
rs759737019
|
0.00001
|
NM_015102.5(NPHP4):c.3446G>A (p.Arg1149His)
|
rs749025936
|
0.00001
|
NM_015102.5(NPHP4):c.3472+2C>T
|
rs746549067
|
0.00001
|
NM_015102.5(NPHP4):c.3473-3C>T
|
rs1304642945
|
0.00001
|
NM_015102.5(NPHP4):c.3476C>T (p.Ala1159Val)
|
rs369021103
|
0.00001
|
NM_015102.5(NPHP4):c.3512A>C (p.His1171Pro)
|
rs1036719782
|
0.00001
|
NM_015102.5(NPHP4):c.3530C>T (p.Pro1177Leu)
|
rs749612555
|
0.00001
|
NM_015102.5(NPHP4):c.355C>T (p.Arg119Trp)
|
rs772214126
|
0.00001
|
NM_015102.5(NPHP4):c.3634A>G (p.Ile1212Val)
|
rs960080480
|
0.00001
|
NM_015102.5(NPHP4):c.3650G>A (p.Arg1217His)
|
rs1389043961
|
0.00001
|
NM_015102.5(NPHP4):c.3704G>A (p.Arg1235His)
|
rs569553635
|
0.00001
|
NM_015102.5(NPHP4):c.3721G>A (p.Val1241Ile)
|
rs535789951
|
0.00001
|
NM_015102.5(NPHP4):c.3724G>T (p.Ala1242Ser)
|
rs370942610
|
0.00001
|
NM_015102.5(NPHP4):c.3728G>C (p.Gly1243Ala)
|
rs1331083721
|
0.00001
|
NM_015102.5(NPHP4):c.3769A>T (p.Thr1257Ser)
|
rs770887836
|
0.00001
|
NM_015102.5(NPHP4):c.3801T>A (p.His1267Gln)
|
rs1212384350
|
0.00001
|
NM_015102.5(NPHP4):c.3816+4C>T
|
rs764632297
|
0.00001
|
NM_015102.5(NPHP4):c.3845C>T (p.Pro1282Leu)
|
rs752820537
|
0.00001
|
NM_015102.5(NPHP4):c.3877G>A (p.Val1293Met)
|
rs769488870
|
0.00001
|
NM_015102.5(NPHP4):c.3910C>T (p.His1304Tyr)
|
rs1483940500
|
0.00001
|
NM_015102.5(NPHP4):c.3928G>A (p.Val1310Met)
|
rs1465549509
|
0.00001
|
NM_015102.5(NPHP4):c.3976C>T (p.Arg1326Cys)
|
rs531607950
|
0.00001
|
NM_015102.5(NPHP4):c.3982C>T (p.Pro1328Ser)
|
rs756207507
|
0.00001
|
NM_015102.5(NPHP4):c.3997-3C>T
|
rs991565030
|
0.00001
|
NM_015102.5(NPHP4):c.400C>T (p.Arg134Trp)
|
rs375476413
|
0.00001
|
NM_015102.5(NPHP4):c.4018G>A (p.Ala1340Thr)
|
rs958569972
|
0.00001
|
NM_015102.5(NPHP4):c.4057A>G (p.Thr1353Ala)
|
rs950615557
|
0.00001
|
NM_015102.5(NPHP4):c.4140+3G>C
|
rs755849307
|
0.00001
|
NM_015102.5(NPHP4):c.4181C>T (p.Ala1394Val)
|
rs537985340
|
0.00001
|
NM_015102.5(NPHP4):c.4199G>A (p.Gly1400Asp)
|
rs756370237
|
0.00001
|
NM_015102.5(NPHP4):c.4239C>G (p.Asp1413Glu)
|
rs763112800
|
0.00001
|
NM_015102.5(NPHP4):c.4267G>A (p.Val1423Ile)
|
rs1045851958
|
0.00001
|
NM_015102.5(NPHP4):c.452+3A>G
|
rs1426440104
|
0.00001
|
NM_015102.5(NPHP4):c.457C>T (p.Arg153Trp)
|
rs188946055
|
0.00001
|
NM_015102.5(NPHP4):c.505G>C (p.Asp169His)
|
rs1237544876
|
0.00001
|
NM_015102.5(NPHP4):c.512C>T (p.Ala171Val)
|
rs763307389
|
0.00001
|
NM_015102.5(NPHP4):c.51C>A (p.His17Gln)
|
rs766636945
|
0.00001
|
NM_015102.5(NPHP4):c.527A>G (p.His176Arg)
|
rs765166774
|
0.00001
|
NM_015102.5(NPHP4):c.559T>C (p.Tyr187His)
|
rs1027187670
|
0.00001
|
NM_015102.5(NPHP4):c.625T>A (p.Ser209Thr)
|
rs776658669
|
0.00001
|
NM_015102.5(NPHP4):c.631C>G (p.Leu211Val)
|
rs766491055
|
0.00001
|
NM_015102.5(NPHP4):c.637C>G (p.Gln213Glu)
|
rs761724605
|
0.00001
|
NM_015102.5(NPHP4):c.706C>T (p.Pro236Ser)
|
rs1384084291
|
0.00001
|
NM_015102.5(NPHP4):c.713C>T (p.Thr238Met)
|
rs752644932
|
0.00001
|
NM_015102.5(NPHP4):c.796G>A (p.Asp266Asn)
|
rs372493501
|
0.00001
|
NM_015102.5(NPHP4):c.806A>C (p.Gln269Pro)
|
rs1182919955
|
0.00001
|
NM_015102.5(NPHP4):c.815G>A (p.Cys272Tyr)
|
rs1349348418
|
0.00001
|
NM_015102.5(NPHP4):c.821C>T (p.Pro274Leu)
|
rs752624938
|
0.00001
|
NM_015102.5(NPHP4):c.878A>G (p.Asn293Ser)
|
rs368886256
|
0.00001
|
NM_015102.5(NPHP4):c.88G>A (p.Ala30Thr)
|
rs1187572016
|
0.00001
|
NM_015102.5(NPHP4):c.967A>G (p.Lys323Glu)
|
rs763652381
|
0.00001
|
NM_015662.3(IFT172):c.1295G>A (p.Arg432His)
|
rs1327376049
|
0.00001
|
NM_032575.3(GLIS2):c.*1583del
|
rs886052000
|
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_133433.4(NIPBL):c.2741C>G (p.Thr914Ser)
|
rs1329800608
|
0.00001
|
NM_153240.5(NPHP3):c.1091T>C (p.Ile364Thr)
|
rs1186561814
|
0.00001
|
NM_153240.5(NPHP3):c.116G>T (p.Arg39Leu)
|
rs753467164
|
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.1396G>A (p.Gly466Ser)
|
rs1241694746
|
0.00001
|
NM_153240.5(NPHP3):c.1399A>G (p.Ser467Gly)
|
rs751944855
|
0.00001
|
NM_153240.5(NPHP3):c.1411A>G (p.Ile471Val)
|
rs200659972
|
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.1537C>T (p.Leu513Phe)
|
rs1250547107
|
0.00001
|
NM_153240.5(NPHP3):c.158C>G (p.Ala53Gly)
|
rs538317431
|
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.1712C>T (p.Ser571Phe)
|
rs748309289
|
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.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.1975C>T (p.Pro659Ser)
|
rs1007912862
|
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.2114G>A (p.Arg705His)
|
rs139548649
|
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.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.236C>T (p.Ser79Leu)
|
rs1303757034
|
0.00001
|
NM_153240.5(NPHP3):c.2516C>G (p.Thr839Ser)
|
rs1268939572
|
0.00001
|
NM_153240.5(NPHP3):c.262G>T (p.Ala88Ser)
|
rs1233421790
|
0.00001
|
NM_153240.5(NPHP3):c.2666T>C (p.Leu889Pro)
|
rs747876996
|
0.00001
|
NM_153240.5(NPHP3):c.2731G>A (p.Val911Ile)
|
rs370506189
|
0.00001
|
NM_153240.5(NPHP3):c.2883+5G>A
|
rs948593540
|
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.2948G>A (p.Arg983Lys)
|
rs909410608
|
0.00001
|
NM_153240.5(NPHP3):c.2981T>A (p.Val994Glu)
|
rs564239365
|
0.00001
|
NM_153240.5(NPHP3):c.3037G>C (p.Glu1013Gln)
|
rs762836818
|
0.00001
|
NM_153240.5(NPHP3):c.3143A>G (p.His1048Arg)
|
rs934058701
|
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.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.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.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.3563A>G (p.Lys1188Arg)
|
rs772079066
|
0.00001
|
NM_153240.5(NPHP3):c.3680T>C (p.Val1227Ala)
|
rs1464247795
|
0.00001
|
NM_153240.5(NPHP3):c.3697-7T>A
|
rs777908405
|
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.3866A>C (p.Glu1289Ala)
|
rs759336230
|
0.00001
|
NM_153240.5(NPHP3):c.3875A>C (p.Glu1292Ala)
|
rs766281273
|
0.00001
|
NM_153240.5(NPHP3):c.3914G>A (p.Arg1305His)
|
rs781537576
|
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.589C>T (p.Leu197Phe)
|
rs111707939
|
0.00001
|
NM_153240.5(NPHP3):c.653A>G (p.Asn218Ser)
|
rs199956251
|
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.856C>G (p.Gln286Glu)
|
rs775337662
|
0.00001
|
NM_153240.5(NPHP3):c.896C>T (p.Thr299Ile)
|
rs1940015669
|
0.00001
|
NM_153240.5(NPHP3):c.958G>T (p.Asp320Tyr)
|
rs75288730
|
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.(?_6046195)_(6101952_?)dup
|
|
|
NC_000001.11:g.(?_5978270)_(5978413_?)del
|
|
|
NC_000001.11:g.5927783_5927791dup
|
|
|
NC_000002.11:g.(?_110907739)_(110962545_?)dup
|
|
|
NC_000002.11:g.(?_110962457)_(110962545_?)dup
|
|
|
NC_000002.12:g.(?_110091603)_(110161697_?)dup
|
|
|
NC_000002.12:g.(?_110123791)_(110161697_?)dup
|
|
|
NC_000002.12:g.(?_110123791)_(110164730_?)dup
|
|
|
NC_000002.12:g.(?_110123791)_(110201494_?)dup
|
|
|
NC_000002.12:g.(?_110168442)_(110204968_?)dup
|
|
|
NC_000003.11:g.(?_121489192)_(121489441_?)del
|
|
|
NC_000003.11:g.(?_132379382)_(132441199_?)dup
|
|
|
NC_000003.11:g.(?_132407898)_(132411682_?)del
|
|
|
NC_000003.11:g.(?_132413221)_(132415677_?)del
|
|
|
NC_000003.12:g.(?_132465995)_(132722355_?)dup
|
|
|
NC_000009.11:g.(?_102866804)_(103035378_?)dup
|
|
|
NC_000009.11:g.(?_102988324)_(103062956_?)dup
|
|
|
NC_000009.11:g.(?_103004832)_(103009089_?)del
|
|
|
NC_000009.12:g.(?_100226042)_(100226255_?)del
|
|
|
NC_000016.9:g.(?_4386706)_(4387545_?)dup
|
|
|
NM_001023570.4(IQCB1):c.1000A>G (p.Lys334Glu)
|
rs532987681
|
|
NM_001023570.4(IQCB1):c.1069C>G (p.Gln357Glu)
|
|
|
NM_001023570.4(IQCB1):c.1075G>T (p.Ala359Ser)
|
|
|
NM_001023570.4(IQCB1):c.1125T>G (p.His375Gln)
|
|
|
NM_001023570.4(IQCB1):c.115A>C (p.Thr39Pro)
|
|
|
NM_001023570.4(IQCB1):c.115A>G (p.Thr39Ala)
|
|
|
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.1210A>G (p.Arg404Gly)
|
rs1354344876
|
|
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.1274G>A (p.Arg425Lys)
|
rs1450149889
|
|
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.1319T>C (p.Leu440Pro)
|
rs749515337
|
|
NM_001023570.4(IQCB1):c.1360C>T (p.Arg454Cys)
|
|
|
NM_001023570.4(IQCB1):c.1363C>A (p.Arg455=)
|
rs866982675
|
|
NM_001023570.4(IQCB1):c.1369G>C (p.Glu457Gln)
|
|
|
NM_001023570.4(IQCB1):c.1399A>G (p.Arg467Gly)
|
|
|
NM_001023570.4(IQCB1):c.139A>G (p.Lys47Glu)
|
|
|
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.1450G>A (p.Ala484Thr)
|
rs776788131
|
|
NM_001023570.4(IQCB1):c.1484T>C (p.Met495Thr)
|
rs2108507338
|
|
NM_001023570.4(IQCB1):c.1487G>A (p.Gly496Asp)
|
|
|
NM_001023570.4(IQCB1):c.1491G>T (p.Arg497Ser)
|
rs1346401319
|
|
NM_001023570.4(IQCB1):c.1498G>A (p.Glu500Lys)
|
|
|
NM_001023570.4(IQCB1):c.1499A>G (p.Glu500Gly)
|
|
|
NM_001023570.4(IQCB1):c.1516C>A (p.His506Asn)
|
rs2108507224
|
|
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.1567+4T>C
|
|
|
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.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.1687C>G (p.Pro563Ala)
|
|
|
NM_001023570.4(IQCB1):c.1688C>G (p.Pro563Arg)
|
rs767653545
|
|
NM_001023570.4(IQCB1):c.16A>G (p.Thr6Ala)
|
rs749733618
|
|
NM_001023570.4(IQCB1):c.1706G>C (p.Gly569Ala)
|
|
|
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.1769T>G (p.Leu590Ter)
|
rs1947917811
|
|
NM_001023570.4(IQCB1):c.214C>G (p.Arg72Gly)
|
rs201405662
|
|
NM_001023570.4(IQCB1):c.264-3C>T
|
rs1950460725
|
|
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.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.385G>C (p.Ala129Pro)
|
rs767567960
|
|
NM_001023570.4(IQCB1):c.394-3A>G
|
|
|
NM_001023570.4(IQCB1):c.410A>G (p.Glu137Gly)
|
|
|
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+6A>G
|
|
|
NM_001023570.4(IQCB1):c.487G>A (p.Val163Ile)
|
|
|
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.550G>A (p.Val184Ile)
|
|
|
NM_001023570.4(IQCB1):c.580A>T (p.Ile194Phe)
|
rs1412812453
|
|
NM_001023570.4(IQCB1):c.588-18T>A
|
|
|
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.772A>G (p.Arg258Gly)
|
rs2108566176
|
|
NM_001023570.4(IQCB1):c.782T>A (p.Leu261Gln)
|
rs199959360
|
|
NM_001023570.4(IQCB1):c.861G>T (p.Gln287His)
|
|
|
NM_001023570.4(IQCB1):c.871G>A (p.Glu291Lys)
|
rs1030791636
|
|
NM_001023570.4(IQCB1):c.887A>G (p.Gln296Arg)
|
|
|
NM_001023570.4(IQCB1):c.895T>A (p.Cys299Ser)
|
rs1949147133
|
|
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.927G>C (p.Gln309His)
|
rs2108561479
|
|
NM_001023570.4(IQCB1):c.975G>T (p.Gln325His)
|
|
|
NM_001128178.3(NPHP1):c.*333AAC[1]
|
rs555468187
|
|
NM_001128178.3(NPHP1):c.1003T>C (p.Cys335Arg)
|
rs112297047
|
|
NM_001128178.3(NPHP1):c.1016C>A (p.Pro339His)
|
rs746482479
|
|
NM_001128178.3(NPHP1):c.1022C>G (p.Pro341Arg)
|
|
|
NM_001128178.3(NPHP1):c.1033A>C (p.Ile345Leu)
|
rs1365124220
|
|
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.1083+6G>T
|
|
|
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.1130A>C (p.Lys377Thr)
|
rs1441711189
|
|
NM_001128178.3(NPHP1):c.1154C>T (p.Pro385Leu)
|
|
|
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.1177T>C (p.Cys393Arg)
|
|
|
NM_001128178.3(NPHP1):c.1190G>T (p.Gly397Val)
|
rs1681189257
|
|
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.1229T>C (p.Leu410Pro)
|
rs765450176
|
|
NM_001128178.3(NPHP1):c.1231G>A (p.Gly411Arg)
|
rs759936705
|
|
NM_001128178.3(NPHP1):c.1247T>G (p.Leu416Arg)
|
|
|
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+17A>G
|
|
|
NM_001128178.3(NPHP1):c.1269T>C (p.Asn423=)
|
|
|
NM_001128178.3(NPHP1):c.1346C>T (p.Pro449Leu)
|
rs2104492226
|
|
NM_001128178.3(NPHP1):c.1363C>T (p.Leu455Phe)
|
|
|
NM_001128178.3(NPHP1):c.1371G>T (p.Leu457Phe)
|
rs2104483940
|
|
NM_001128178.3(NPHP1):c.137A>G (p.Tyr46Cys)
|
rs1212780955
|
|
NM_001128178.3(NPHP1):c.1384C>T (p.Pro462Ser)
|
|
|
NM_001128178.3(NPHP1):c.1412C>T (p.Pro471Leu)
|
|
|
NM_001128178.3(NPHP1):c.1427G>A (p.Arg476Lys)
|
|
|
NM_001128178.3(NPHP1):c.143G>A (p.Arg48Lys)
|
rs779393628
|
|
NM_001128178.3(NPHP1):c.144-6A>G
|
rs2104616583
|
|
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.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.1528A>T (p.Ser510Cys)
|
rs995292402
|
|
NM_001128178.3(NPHP1):c.152A>C (p.Gln51Pro)
|
|
|
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.1577T>G (p.Leu526Trp)
|
rs1314119987
|
|
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.1641T>C (p.Thr547=)
|
|
|
NM_001128178.3(NPHP1):c.1652G>A (p.Ser551Asn)
|
|
|
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.1672T>C (p.Phe558Leu)
|
rs2104428780
|
|
NM_001128178.3(NPHP1):c.1679T>G (p.Met560Arg)
|
|
|
NM_001128178.3(NPHP1):c.1693C>G (p.Pro565Ala)
|
rs147090619
|
|
NM_001128178.3(NPHP1):c.1699G>A (p.Val567Met)
|
|
|
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.1747A>G (p.Lys583Glu)
|
rs1188653340
|
|
NM_001128178.3(NPHP1):c.1753T>C (p.Ser585Pro)
|
|
|
NM_001128178.3(NPHP1):c.1762-1G>A
|
rs2104409792
|
|
NM_001128178.3(NPHP1):c.1774T>C (p.Phe592Leu)
|
rs1679177926
|
|
NM_001128178.3(NPHP1):c.1784C>T (p.Ser595Phe)
|
|
|
NM_001128178.3(NPHP1):c.1805A>G (p.His602Arg)
|
|
|
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.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.184G>A (p.Ala62Thr)
|
rs886043591
|
|
NM_001128178.3(NPHP1):c.1863A>C (p.Glu621Asp)
|
|
|
NM_001128178.3(NPHP1):c.1882C>T (p.Arg628Trp)
|
rs141686332
|
|
NM_001128178.3(NPHP1):c.1891G>T (p.Val631Phe)
|
|
|
NM_001128178.3(NPHP1):c.1933G>A (p.Ala645Thr)
|
rs201077898
|
|
NM_001128178.3(NPHP1):c.1936C>T (p.Leu646Phe)
|
|
|
NM_001128178.3(NPHP1):c.1955C>T (p.Pro652Leu)
|
|
|
NM_001128178.3(NPHP1):c.1966C>T (p.His656Tyr)
|
rs1679151001
|
|
NM_001128178.3(NPHP1):c.1990dup (p.Gln664fs)
|
|
|
NM_001128178.3(NPHP1):c.1994C>T (p.Thr665Ile)
|
|
|
NM_001128178.3(NPHP1):c.199A>G (p.Ser67Gly)
|
rs1683747045
|
|
NM_001128178.3(NPHP1):c.19C>G (p.Arg7Gly)
|
|
|
NM_001128178.3(NPHP1):c.200G>A (p.Ser67Asn)
|
rs1206786239
|
|
NM_001128178.3(NPHP1):c.2019A>C (p.Arg673Ser)
|
rs2104408356
|
|
NM_001128178.3(NPHP1):c.205G>C (p.Ala69Pro)
|
rs753950057
|
|
NM_001128178.3(NPHP1):c.220C>G (p.Pro74Ala)
|
|
|
NM_001128178.3(NPHP1):c.231C>G (p.Asn77Lys)
|
rs1373708368
|
|
NM_001128178.3(NPHP1):c.236A>T (p.Asn79Ile)
|
rs2104612175
|
|
NM_001128178.3(NPHP1):c.263T>C (p.Leu88Pro)
|
|
|
NM_001128178.3(NPHP1):c.28C>G (p.Leu10Val)
|
rs1422250227
|
|
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.335G>A (p.Gly112Glu)
|
|
|
NM_001128178.3(NPHP1):c.337G>T (p.Ala113Ser)
|
rs1683007830
|
|
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.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.404A>G (p.Asp135Gly)
|
rs747176517
|
|
NM_001128178.3(NPHP1):c.410A>T (p.Glu137Val)
|
|
|
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.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.472A>T (p.Ile158Phe)
|
|
|
NM_001128178.3(NPHP1):c.475G>T (p.Ala159Ser)
|
rs372855293
|
|
NM_001128178.3(NPHP1):c.482G>C (p.Gly161Ala)
|
|
|
NM_001128178.3(NPHP1):c.49A>G (p.Asn17Asp)
|
|
|
NM_001128178.3(NPHP1):c.522+4G>C
|
|
|
NM_001128178.3(NPHP1):c.522+5_522+8del
|
rs1411070570
|
|
NM_001128178.3(NPHP1):c.523-14T>A
|
|
|
NM_001128178.3(NPHP1):c.526G>C (p.Gly176Arg)
|
|
|
NM_001128178.3(NPHP1):c.539T>C (p.Leu180Pro)
|
|
|
NM_001128178.3(NPHP1):c.545T>C (p.Ile182Thr)
|
|
|
NM_001128178.3(NPHP1):c.560A>G (p.Asp187Gly)
|
|
|
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.604G>T (p.Val202Phe)
|
|
|
NM_001128178.3(NPHP1):c.608C>G (p.Pro203Arg)
|
|
|
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.644_645delinsGC (p.Glu215Gly)
|
rs1682631627
|
|
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.681T>G (p.Asp227Glu)
|
rs2104561993
|
|
NM_001128178.3(NPHP1):c.68A>T (p.Gln23Leu)
|
|
|
NM_001128178.3(NPHP1):c.695A>T (p.Asp232Val)
|
|
|
NM_001128178.3(NPHP1):c.706G>C (p.Asp236His)
|
rs2104561811
|
|
NM_001128178.3(NPHP1):c.722A>C (p.Lys241Thr)
|
|
|
NM_001128178.3(NPHP1):c.736C>T (p.Pro246Ser)
|
rs2104560350
|
|
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+104G>C
|
|
|
NM_001128178.3(NPHP1):c.771+136C>A
|
rs142670785
|
|
NM_001128178.3(NPHP1):c.771+136C>T
|
|
|
NM_001128178.3(NPHP1):c.771+158C>T
|
rs2104559150
|
|
NM_001128178.3(NPHP1):c.771+172A>C
|
|
|
NM_001128178.3(NPHP1):c.771+23A>C
|
|
|
NM_001128178.3(NPHP1):c.771+26A>G
|
|
|
NM_001128178.3(NPHP1):c.771+52C>G
|
|
|
NM_001128178.3(NPHP1):c.771+65G>A
|
rs2104559817
|
|
NM_001128178.3(NPHP1):c.771+65G>T
|
|
|
NM_001128178.3(NPHP1):c.771+76G>A
|
rs772549591
|
|
NM_001128178.3(NPHP1):c.775A>G (p.Ile259Val)
|
|
|
NM_001128178.3(NPHP1):c.804G>A (p.Met268Ile)
|
|
|
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.883T>G (p.Phe295Val)
|
rs2104548598
|
|
NM_001128178.3(NPHP1):c.890A>G (p.Gln297Arg)
|
rs747172399
|
|
NM_001128178.3(NPHP1):c.8C>G (p.Ala3Gly)
|
rs1685843048
|
|
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.937G>T (p.Asp313Tyr)
|
|
|
NM_001128178.3(NPHP1):c.954+5G>T
|
rs1242271896
|
|
NM_001128178.3(NPHP1):c.959G>A (p.Arg320Lys)
|
|
|
NM_001128178.3(NPHP1):c.962C>T (p.Ser321Leu)
|
|
|
NM_001128178.3(NPHP1):c.976A>G (p.Ile326Val)
|
|
|
NM_001128178.3(NPHP1):c.983T>C (p.Leu328Ser)
|
|
|
NM_001128178.3(NPHP1):c.986T>C (p.Ile329Thr)
|
rs794727018
|
|
NM_001142301.1(TMEM67):c.-207del
|
rs145334032
|
|
NM_001378615.1(CC2D2A):c.2671G>C (p.Glu891Gln)
|
rs863225178
|
|
NM_001378615.1(CC2D2A):c.3056G>A (p.Arg1019Gln)
|
rs746926711
|
|
NM_001384732.1(CPLANE1):c.1840T>C (p.Cys614Arg)
|
rs1796552273
|
|
NM_001384732.1(CPLANE1):c.6430C>G (p.Pro2144Ala)
|
rs1779345100
|
|
NM_012330.4(KAT6B):c.2152C>T (p.Arg718Trp)
|
rs1842359062
|
|
NM_014425.5(INVS):c.*466CA[18]
|
rs10527613
|
|
NM_014425.5(INVS):c.*466CA[19]
|
rs10527613
|
|
NM_014425.5(INVS):c.*466CA[21]
|
rs10527613
|
|
NM_014425.5(INVS):c.*466CA[23]
|
rs10527613
|
|
NM_014425.5(INVS):c.*466_*467insTCAC
|
rs200314659
|
|
NM_014425.5(INVS):c.*466_*467insTCACAC
|
rs200314659
|
|
NM_014425.5(INVS):c.1006G>A (p.Asp336Asn)
|
rs760384200
|
|
NM_014425.5(INVS):c.1022T>G (p.Met341Arg)
|
rs1397165748
|
|
NM_014425.5(INVS):c.104T>C (p.Val35Ala)
|
|
|
NM_014425.5(INVS):c.106+3A>C
|
rs1827113455
|
|
NM_014425.5(INVS):c.106+6C>T
|
rs1196750401
|
|
NM_014425.5(INVS):c.1099T>C (p.Ser367Pro)
|
|
|
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.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.1223C>T (p.Thr408Ile)
|
|
|
NM_014425.5(INVS):c.1255G>C (p.Val419Leu)
|
rs2118562526
|
|
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.1315T>G (p.Cys439Gly)
|
|
|
NM_014425.5(INVS):c.1321A>C (p.Ile441Leu)
|
rs1832286801
|
|
NM_014425.5(INVS):c.1342A>G (p.Asn448Asp)
|
rs2118563086
|
|
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.1355A>C (p.Gln452Pro)
|
rs2118563198
|
|
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.1420G>A (p.Val474Ile)
|
|
|
NM_014425.5(INVS):c.1423C>T (p.Leu475Phe)
|
|
|
NM_014425.5(INVS):c.1429G>A (p.Glu477Lys)
|
rs1832291428
|
|
NM_014425.5(INVS):c.1466G>A (p.Gly489Glu)
|
rs1015507237
|
|
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.1496A>G (p.Asn499Ser)
|
rs1564182761
|
|
NM_014425.5(INVS):c.149C>T (p.Thr50Ile)
|
|
|
NM_014425.5(INVS):c.1508A>T (p.Asp503Val)
|
rs1832737838
|
|
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.1561A>C (p.Asn521His)
|
rs2118629746
|
|
NM_014425.5(INVS):c.1571+2dup
|
rs1554728033
|
|
NM_014425.5(INVS):c.1571+5G>A
|
rs1832740394
|
|
NM_014425.5(INVS):c.1576A>G (p.Thr526Ala)
|
rs1050540680
|
|
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.1604A>G (p.Glu535Gly)
|
rs1832999071
|
|
NM_014425.5(INVS):c.1639G>A (p.Gly547Ser)
|
rs368682890
|
|
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.1712T>C (p.Val571Ala)
|
rs1236753815
|
|
NM_014425.5(INVS):c.1774G>C (p.Ala592Pro)
|
|
|
NM_014425.5(INVS):c.1784+6T>C
|
|
|
NM_014425.5(INVS):c.1784A>C (p.Lys595Thr)
|
rs2118669515
|
|
NM_014425.5(INVS):c.1785-14G>A
|
rs2118724157
|
|
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.1808G>A (p.Arg603Gln)
|
rs372596288
|
|
NM_014425.5(INVS):c.1837C>T (p.Arg613Trp)
|
rs529208660
|
|
NM_014425.5(INVS):c.1865C>T (p.Ala622Val)
|
|
|
NM_014425.5(INVS):c.1882A>T (p.Ser628Cys)
|
|
|
NM_014425.5(INVS):c.1899CAG[1] (p.Ser634del)
|
rs886063267
|
|
NM_014425.5(INVS):c.1903A>G (p.Arg635Gly)
|
|
|
NM_014425.5(INVS):c.194A>G (p.Asp65Gly)
|
|
|
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.2002G>A (p.Gly668Arg)
|
rs764384987
|
|
NM_014425.5(INVS):c.2008C>T (p.Leu670Phe)
|
rs754291892
|
|
NM_014425.5(INVS):c.2027T>A (p.Val676Asp)
|
rs967224963
|
|
NM_014425.5(INVS):c.2029T>G (p.Ser677Ala)
|
|
|
NM_014425.5(INVS):c.2065A>C (p.Asn689His)
|
rs1355652364
|
|
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.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.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.2219G>T (p.Gly740Val)
|
|
|
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.2299C>T (p.Leu767Phe)
|
|
|
NM_014425.5(INVS):c.2306C>T (p.Pro769Leu)
|
|
|
NM_014425.5(INVS):c.2334G>C (p.Arg778Ser)
|
|
|
NM_014425.5(INVS):c.2340T>A (p.His780Gln)
|
|
|
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.239G>A (p.Ser80Asn)
|
rs1231356870
|
|
NM_014425.5(INVS):c.2414C>T (p.Pro805Leu)
|
rs750979976
|
|
NM_014425.5(INVS):c.2447G>T (p.Gly816Val)
|
|
|
NM_014425.5(INVS):c.2489C>T (p.Thr830Ile)
|
rs886063270
|
|
NM_014425.5(INVS):c.2522C>G (p.Thr841Arg)
|
rs1833665476
|
|
NM_014425.5(INVS):c.2530C>T (p.Leu844Phe)
|
rs2118763419
|
|
NM_014425.5(INVS):c.2540A>G (p.His847Arg)
|
|
|
NM_014425.5(INVS):c.2543T>C (p.Leu848Ser)
|
rs2118763519
|
|
NM_014425.5(INVS):c.2557GAG[1] (p.Glu854del)
|
|
|
NM_014425.5(INVS):c.256C>G (p.His86Asp)
|
|
|
NM_014425.5(INVS):c.2576C>G (p.Ala859Gly)
|
|
|
NM_014425.5(INVS):c.2605G>A (p.Glu869Lys)
|
|
|
NM_014425.5(INVS):c.2610C>G (p.Asp870Glu)
|
|
|
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.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.269A>G (p.Gln90Arg)
|
rs1827890162
|
|
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.273+3G>A
|
rs2118895764
|
|
NM_014425.5(INVS):c.273+5G>A
|
rs1195767279
|
|
NM_014425.5(INVS):c.2752A>G (p.Lys918Glu)
|
|
|
NM_014425.5(INVS):c.2772G>T (p.Gln924His)
|
|
|
NM_014425.5(INVS):c.2779T>A (p.Trp927Arg)
|
|
|
NM_014425.5(INVS):c.2794C>T (p.Leu932Phe)
|
rs2118781536
|
|
NM_014425.5(INVS):c.2805C>A (p.His935Gln)
|
rs1265354401
|
|
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.2834T>A (p.Leu945His)
|
rs757927270
|
|
NM_014425.5(INVS):c.2834T>C (p.Leu945Pro)
|
rs757927270
|
|
NM_014425.5(INVS):c.2861G>A (p.Arg954Lys)
|
rs2118781948
|
|
NM_014425.5(INVS):c.2866G>A (p.Glu956Lys)
|
|
|
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.2941A>G (p.Lys981Glu)
|
rs1833812606
|
|
NM_014425.5(INVS):c.2947C>G (p.Pro983Ala)
|
rs2118782522
|
|
NM_014425.5(INVS):c.2984C>A (p.Ser995Tyr)
|
|
|
NM_014425.5(INVS):c.2986A>G (p.Thr996Ala)
|
|
|
NM_014425.5(INVS):c.2995T>C (p.Ser999Pro)
|
rs1833814101
|
|
NM_014425.5(INVS):c.3017GTT[1] (p.Cys1007del)
|
|
|
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.3085A>G (p.Asn1029Asp)
|
|
|
NM_014425.5(INVS):c.3092-11_3092-6del
|
rs1245384768
|
|
NM_014425.5(INVS):c.3128G>A (p.Ser1043Asn)
|
|
|
NM_014425.5(INVS):c.3137_3138insTTC (p.Ser1046dup)
|
rs778453251
|
|
NM_014425.5(INVS):c.3182A>C (p.Asn1061Thr)
|
|
|
NM_014425.5(INVS):c.3185A>G (p.Lys1062Arg)
|
rs758703044
|
|
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.342G>C (p.Glu114Asp)
|
|
|
NM_014425.5(INVS):c.349C>T (p.Pro117Ser)
|
rs1021818693
|
|
NM_014425.5(INVS):c.371A>G (p.His124Arg)
|
rs1251662430
|
|
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.461A>G (p.His154Arg)
|
rs1386694263
|
|
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.487G>C (p.Glu163Gln)
|
rs1831445837
|
|
NM_014425.5(INVS):c.491A>G (p.His164Arg)
|
rs1831445914
|
|
NM_014425.5(INVS):c.536A>T (p.Asp179Val)
|
|
|
NM_014425.5(INVS):c.582T>A (p.Asp194Glu)
|
rs2118429045
|
|
NM_014425.5(INVS):c.615G>C (p.Leu205=)
|
rs140664868
|
|
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.722C>T (p.Thr241Ile)
|
rs1248564172
|
|
NM_014425.5(INVS):c.772C>T (p.Pro258Ser)
|
rs866679782
|
|
NM_014425.5(INVS):c.773C>G (p.Pro258Arg)
|
|
|
NM_014425.5(INVS):c.832A>G (p.Asn278Asp)
|
|
|
NM_014425.5(INVS):c.832A>T (p.Asn278Tyr)
|
|
|
NM_014425.5(INVS):c.907-13dup
|
rs750082874
|
|
NM_014425.5(INVS):c.907-3C>T
|
|
|
NM_014425.5(INVS):c.914T>G (p.Val305Gly)
|
|
|
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.985G>T (p.Ala329Ser)
|
rs1212648125
|
|
NM_014425.5(INVS):c.986C>A (p.Ala329Glu)
|
rs1202806202
|
|
NM_015102.5(NPHP4):c.1017G>C (p.Leu339Phe)
|
rs769587826
|
|
NM_015102.5(NPHP4):c.1031G>T (p.Arg344Leu)
|
|
|
NM_015102.5(NPHP4):c.1045G>A (p.Val349Ile)
|
|
|
NM_015102.5(NPHP4):c.1045G>T (p.Val349Phe)
|
|
|
NM_015102.5(NPHP4):c.1081G>C (p.Glu361Gln)
|
rs2101924426
|
|
NM_015102.5(NPHP4):c.1109T>A (p.Val370Glu)
|
rs2101923937
|
|
NM_015102.5(NPHP4):c.1119+6A>C
|
rs2101923698
|
|
NM_015102.5(NPHP4):c.1119T>G (p.Asn373Lys)
|
|
|
NM_015102.5(NPHP4):c.1138C>G (p.Leu380Val)
|
|
|
NM_015102.5(NPHP4):c.1159C>G (p.His387Asp)
|
rs1041404643
|
|
NM_015102.5(NPHP4):c.115G>A (p.Asp39Asn)
|
|
|
NM_015102.5(NPHP4):c.1162A>C (p.Met388Leu)
|
|
|
NM_015102.5(NPHP4):c.1180T>G (p.Trp394Gly)
|
rs1646370640
|
|
NM_015102.5(NPHP4):c.1199C>G (p.Ala400Gly)
|
|
|
NM_015102.5(NPHP4):c.1205C>G (p.Ser402Cys)
|
|
|
NM_015102.5(NPHP4):c.1212G>T (p.Arg404Ser)
|
rs1646368963
|
|
NM_015102.5(NPHP4):c.1226T>C (p.Leu409Pro)
|
rs1382775969
|
|
NM_015102.5(NPHP4):c.1243C>T (p.Pro415Ser)
|
rs1646366756
|
|
NM_015102.5(NPHP4):c.1264G>C (p.Val422Leu)
|
rs373905286
|
|
NM_015102.5(NPHP4):c.1270A>G (p.Lys424Glu)
|
rs1342432195
|
|
NM_015102.5(NPHP4):c.1292G>A (p.Ser431Asn)
|
|
|
NM_015102.5(NPHP4):c.1293C>G (p.Ser431Arg)
|
rs2101743229
|
|
NM_015102.5(NPHP4):c.1295C>T (p.Ser432Phe)
|
rs2101743191
|
|
NM_015102.5(NPHP4):c.1312G>A (p.Val438Met)
|
|
|
NM_015102.5(NPHP4):c.1328T>A (p.Leu443His)
|
|
|
NM_015102.5(NPHP4):c.1340T>G (p.Phe447Cys)
|
rs1646081863
|
|
NM_015102.5(NPHP4):c.1346T>A (p.Leu449Gln)
|
rs1437698448
|
|
NM_015102.5(NPHP4):c.1346T>C (p.Leu449Pro)
|
|
|
NM_015102.5(NPHP4):c.1364T>G (p.Leu455Arg)
|
rs1646080043
|
|
NM_015102.5(NPHP4):c.1372C>A (p.Pro458Thr)
|
rs1488701326
|
|
NM_015102.5(NPHP4):c.1375A>C (p.Thr459Pro)
|
|
|
NM_015102.5(NPHP4):c.1376C>T (p.Thr459Met)
|
rs371819898
|
|
NM_015102.5(NPHP4):c.139G>T (p.Val47Leu)
|
rs1288396418
|
|
NM_015102.5(NPHP4):c.1415C>G (p.Ser472Cys)
|
|
|
NM_015102.5(NPHP4):c.1417A>G (p.Arg473Gly)
|
|
|
NM_015102.5(NPHP4):c.1427C>A (p.Pro476His)
|
rs534853218
|
|
NM_015102.5(NPHP4):c.1442G>A (p.Ser481Asn)
|
rs1645059863
|
|
NM_015102.5(NPHP4):c.1462C>G (p.Arg488Gly)
|
rs778043242
|
|
NM_015102.5(NPHP4):c.1463G>A (p.Arg488Gln)
|
rs375429200
|
|
NM_015102.5(NPHP4):c.1463G>C (p.Arg488Pro)
|
rs375429200
|
|
NM_015102.5(NPHP4):c.1469T>C (p.Leu490Pro)
|
rs537135377
|
|
NM_015102.5(NPHP4):c.1489C>A (p.Pro497Thr)
|
|
|
NM_015102.5(NPHP4):c.1503+3A>C
|
rs1184570247
|
|
NM_015102.5(NPHP4):c.1504-13T>G
|
|
|
NM_015102.5(NPHP4):c.1510A>G (p.Ile504Val)
|
|
|
NM_015102.5(NPHP4):c.1523C>T (p.Ala508Val)
|
rs766910538
|
|
NM_015102.5(NPHP4):c.1525G>T (p.Ala509Ser)
|
|
|
NM_015102.5(NPHP4):c.1532C>G (p.Pro511Arg)
|
rs761974713
|
|
NM_015102.5(NPHP4):c.1534C>T (p.Arg512Trp)
|
rs769747675
|
|
NM_015102.5(NPHP4):c.1561A>T (p.Arg521Trp)
|
|
|
NM_015102.5(NPHP4):c.1567A>G (p.Thr523Ala)
|
|
|
NM_015102.5(NPHP4):c.1585G>C (p.Gly529Arg)
|
rs750626428
|
|
NM_015102.5(NPHP4):c.1601C>T (p.Pro534Leu)
|
|
|
NM_015102.5(NPHP4):c.1603G>C (p.Ala535Pro)
|
rs1644945043
|
|
NM_015102.5(NPHP4):c.1611+3A>C
|
|
|
NM_015102.5(NPHP4):c.1617G>T (p.Glu539Asp)
|
|
|
NM_015102.5(NPHP4):c.1633G>A (p.Gly545Ser)
|
|
|
NM_015102.5(NPHP4):c.1663C>G (p.Gln555Glu)
|
rs1369972493
|
|
NM_015102.5(NPHP4):c.1665G>C (p.Gln555His)
|
|
|
NM_015102.5(NPHP4):c.1669T>C (p.Ser557Pro)
|
|
|
NM_015102.5(NPHP4):c.1691T>C (p.Ile564Thr)
|
|
|
NM_015102.5(NPHP4):c.1715C>A (p.Pro572Gln)
|
rs183722664
|
|
NM_015102.5(NPHP4):c.1721C>T (p.Thr574Met)
|
|
|
NM_015102.5(NPHP4):c.1732G>C (p.Ala578Pro)
|
rs1557700541
|
|
NM_015102.5(NPHP4):c.1733C>T (p.Ala578Val)
|
|
|
NM_015102.5(NPHP4):c.1736C>A (p.Pro579His)
|
rs2101139333
|
|
NM_015102.5(NPHP4):c.1740TGT[1] (p.Val582del)
|
rs1282891020
|
|
NM_015102.5(NPHP4):c.1792A>G (p.Met598Val)
|
rs926493923
|
|
NM_015102.5(NPHP4):c.1811C>T (p.Ser604Phe)
|
|
|
NM_015102.5(NPHP4):c.1820C>T (p.Pro607Leu)
|
|
|
NM_015102.5(NPHP4):c.1831G>C (p.Asp611His)
|
|
|
NM_015102.5(NPHP4):c.1838A>G (p.Asn613Ser)
|
rs1557699489
|
|
NM_015102.5(NPHP4):c.1846C>G (p.Pro616Ala)
|
|
|
NM_015102.5(NPHP4):c.1888C>A (p.Pro630Thr)
|
|
|
NM_015102.5(NPHP4):c.1906G>A (p.Asp636Asn)
|
|
|
NM_015102.5(NPHP4):c.1949T>G (p.Phe650Cys)
|
rs1644859413
|
|
NM_015102.5(NPHP4):c.1955+3A>G
|
|
|
NM_015102.5(NPHP4):c.1956-3C>T
|
|
|
NM_015102.5(NPHP4):c.1957G>C (p.Val653Leu)
|
rs1644835961
|
|
NM_015102.5(NPHP4):c.1967A>G (p.Asp656Gly)
|
|
|
NM_015102.5(NPHP4):c.2013G>C (p.Gln671His)
|
|
|
NM_015102.5(NPHP4):c.2021G>A (p.Arg674His)
|
rs375416303
|
|
NM_015102.5(NPHP4):c.202C>A (p.Arg68=)
|
rs771873685
|
|
NM_015102.5(NPHP4):c.2045G>C (p.Arg682Pro)
|
rs543023683
|
|
NM_015102.5(NPHP4):c.2066A>G (p.Asp689Gly)
|
|
|
NM_015102.5(NPHP4):c.2077_2082dup (p.Gln693_Pro694dup)
|
rs2101120687
|
|
NM_015102.5(NPHP4):c.2093C>A (p.Ala698Asp)
|
rs745698836
|
|
NM_015102.5(NPHP4):c.210C>G (p.Phe70Leu)
|
rs2102372665
|
|
NM_015102.5(NPHP4):c.2110G>A (p.Val704Met)
|
|
|
NM_015102.5(NPHP4):c.2110G>C (p.Val704Leu)
|
|
|
NM_015102.5(NPHP4):c.2116G>A (p.Val706Met)
|
rs755418982
|
|
NM_015102.5(NPHP4):c.2117T>G (p.Val706Gly)
|
|
|
NM_015102.5(NPHP4):c.2125G>A (p.Asp709Asn)
|
rs1282597137
|
|
NM_015102.5(NPHP4):c.2126A>C (p.Asp709Ala)
|
rs926092150
|
|
NM_015102.5(NPHP4):c.2126A>T (p.Asp709Val)
|
rs926092150
|
|
NM_015102.5(NPHP4):c.212T>G (p.Phe71Cys)
|
|
|
NM_015102.5(NPHP4):c.2131A>G (p.Thr711Ala)
|
|
|
NM_015102.5(NPHP4):c.2155T>G (p.Phe719Val)
|
rs1644098679
|
|
NM_015102.5(NPHP4):c.2162T>A (p.Leu721Gln)
|
rs2100922749
|
|
NM_015102.5(NPHP4):c.2163G>C (p.Leu721=)
|
|
|
NM_015102.5(NPHP4):c.2170A>G (p.Met724Val)
|
rs886598057
|
|
NM_015102.5(NPHP4):c.2186T>C (p.Phe729Ser)
|
rs1260036696
|
|
NM_015102.5(NPHP4):c.218G>C (p.Arg73Thr)
|
|
|
NM_015102.5(NPHP4):c.2204G>C (p.Arg735Pro)
|
rs1277193938
|
|
NM_015102.5(NPHP4):c.2207G>A (p.Arg736His)
|
rs759527356
|
|
NM_015102.5(NPHP4):c.2218C>G (p.Arg740Gly)
|
|
|
NM_015102.5(NPHP4):c.2241_2242delinsAA (p.Gln748Lys)
|
rs2100920979
|
|
NM_015102.5(NPHP4):c.2267C>T (p.Ser756Phe)
|
rs773994262
|
|
NM_015102.5(NPHP4):c.2275C>T (p.Leu759Phe)
|
|
|
NM_015102.5(NPHP4):c.2278A>C (p.Ile760Leu)
|
rs1044293014
|
|
NM_015102.5(NPHP4):c.2287G>A (p.Ala763Thr)
|
rs1644089326
|
|
NM_015102.5(NPHP4):c.2299A>T (p.Met767Leu)
|
rs1485681184
|
|
NM_015102.5(NPHP4):c.2309T>C (p.Leu770Pro)
|
|
|
NM_015102.5(NPHP4):c.2312T>A (p.Leu771His)
|
rs1237462272
|
|
NM_015102.5(NPHP4):c.2324G>A (p.Arg775Gln)
|
|
|
NM_015102.5(NPHP4):c.2324G>T (p.Arg775Leu)
|
rs1034438971
|
|
NM_015102.5(NPHP4):c.2327C>T (p.Pro776Leu)
|
rs201527181
|
|
NM_015102.5(NPHP4):c.2358_2360del (p.Val787del)
|
rs751681273
|
|
NM_015102.5(NPHP4):c.236T>G (p.Val79Gly)
|
rs2102372361
|
|
NM_015102.5(NPHP4):c.2374G>A (p.Glu792Lys)
|
rs764028061
|
|
NM_015102.5(NPHP4):c.2378A>G (p.Gln793Arg)
|
rs368049363
|
|
NM_015102.5(NPHP4):c.2387T>C (p.Met796Thr)
|
|
|
NM_015102.5(NPHP4):c.2405T>C (p.Met802Thr)
|
|
|
NM_015102.5(NPHP4):c.2419C>A (p.Arg807Ser)
|
rs770004315
|
|
NM_015102.5(NPHP4):c.241_249del (p.Pro81_Lys83del)
|
|
|
NM_015102.5(NPHP4):c.2426A>C (p.Lys809Thr)
|
|
|
NM_015102.5(NPHP4):c.2426A>G (p.Lys809Arg)
|
rs747951355
|
|
NM_015102.5(NPHP4):c.2426A>T (p.Lys809Met)
|
rs747951355
|
|
NM_015102.5(NPHP4):c.2428C>G (p.Pro810Ala)
|
rs1643876772
|
|
NM_015102.5(NPHP4):c.242C>T (p.Pro81Leu)
|
rs375278331
|
|
NM_015102.5(NPHP4):c.2435G>A (p.Gly812Asp)
|
|
|
NM_015102.5(NPHP4):c.2447T>A (p.Val816Glu)
|
rs1217129334
|
|
NM_015102.5(NPHP4):c.245C>T (p.Thr82Met)
|
|
|
NM_015102.5(NPHP4):c.2481C>G (p.Asn827Lys)
|
rs761721701
|
|
NM_015102.5(NPHP4):c.2482G>C (p.Val828Leu)
|
rs774129927
|
|
NM_015102.5(NPHP4):c.248_250del (p.Lys83del)
|
|
|
NM_015102.5(NPHP4):c.249G>C (p.Lys83Asn)
|
|
|
NM_015102.5(NPHP4):c.2570G>A (p.Arg857His)
|
|
|
NM_015102.5(NPHP4):c.2587C>A (p.Leu863Ile)
|
|
|
NM_015102.5(NPHP4):c.2609G>A (p.Arg870Lys)
|
rs993280899
|
|
NM_015102.5(NPHP4):c.263G>A (p.Arg88Lys)
|
rs886044065
|
|
NM_015102.5(NPHP4):c.2651A>G (p.Asp884Gly)
|
rs1642710907
|
|
NM_015102.5(NPHP4):c.2660T>A (p.Leu887Gln)
|
|
|
NM_015102.5(NPHP4):c.2673_2675dup (p.Leu892_Thr893insLeu)
|
|
|
NM_015102.5(NPHP4):c.2674C>G (p.Leu892Val)
|
rs752244601
|
|
NM_015102.5(NPHP4):c.268G>C (p.Val90Leu)
|
rs561876203
|
|
NM_015102.5(NPHP4):c.2734C>G (p.Arg912Gly)
|
rs368106760
|
|
NM_015102.5(NPHP4):c.2758A>C (p.Arg920=)
|
|
|
NM_015102.5(NPHP4):c.2767C>T (p.Arg923Cys)
|
|
|
NM_015102.5(NPHP4):c.280-4G>T
|
rs190495420
|
|
NM_015102.5(NPHP4):c.280-7T>G
|
|
|
NM_015102.5(NPHP4):c.2807C>A (p.Thr936Lys)
|
rs201074950
|
|
NM_015102.5(NPHP4):c.2809A>G (p.Ser937Gly)
|
|
|
NM_015102.5(NPHP4):c.2812G>C (p.Val938Leu)
|
rs184961418
|
|
NM_015102.5(NPHP4):c.2817+6G>A
|
rs1642683309
|
|
NM_015102.5(NPHP4):c.2818-15T>G
|
|
|
NM_015102.5(NPHP4):c.2819C>A (p.Ala940Glu)
|
rs200136271
|
|
NM_015102.5(NPHP4):c.2876G>C (p.Arg959Pro)
|
rs12084067
|
|
NM_015102.5(NPHP4):c.2890G>C (p.Ala964Pro)
|
|
|
NM_015102.5(NPHP4):c.2921C>T (p.Ala974Val)
|
|
|
NM_015102.5(NPHP4):c.2929A>G (p.Thr977Ala)
|
|
|
NM_015102.5(NPHP4):c.2932G>C (p.Glu978Gln)
|
rs1281788268
|
|
NM_015102.5(NPHP4):c.2941C>G (p.Leu981Val)
|
|
|
NM_015102.5(NPHP4):c.2947G>C (p.Ala983Pro)
|
rs760239548
|
|
NM_015102.5(NPHP4):c.2962G>T (p.Ala988Ser)
|
rs770053255
|
|
NM_015102.5(NPHP4):c.2993C>G (p.Pro998Arg)
|
|
|
NM_015102.5(NPHP4):c.3027C>G (p.Ile1009Met)
|
rs762202268
|
|
NM_015102.5(NPHP4):c.3082G>A (p.Gly1028Ser)
|
rs1557616048
|
|
NM_015102.5(NPHP4):c.310C>G (p.Pro104Ala)
|
rs1286255762
|
|
NM_015102.5(NPHP4):c.3121T>C (p.Phe1041Leu)
|
|
|
NM_015102.5(NPHP4):c.3128T>C (p.Leu1043Pro)
|
rs755481438
|
|
NM_015102.5(NPHP4):c.3136A>T (p.Ser1046Cys)
|
|
|
NM_015102.5(NPHP4):c.3138C>G (p.Ser1046Arg)
|
|
|
NM_015102.5(NPHP4):c.3146C>T (p.Pro1049Leu)
|
rs938043515
|
|
NM_015102.5(NPHP4):c.3149A>C (p.Gln1050Pro)
|
rs2100620578
|
|
NM_015102.5(NPHP4):c.3163C>T (p.Pro1055Ser)
|
|
|
NM_015102.5(NPHP4):c.3168C>G (p.His1056Gln)
|
|
|
NM_015102.5(NPHP4):c.318C>A (p.Ile106=)
|
|
|
NM_015102.5(NPHP4):c.3203T>C (p.Phe1068Ser)
|
rs764323785
|
|
NM_015102.5(NPHP4):c.3203T>G (p.Phe1068Cys)
|
rs764323785
|
|
NM_015102.5(NPHP4):c.3206C>T (p.Ser1069Phe)
|
|
|
NM_015102.5(NPHP4):c.3211G>A (p.Gly1071Arg)
|
rs1642349499
|
|
NM_015102.5(NPHP4):c.3223_3224delinsTG (p.Met1075Trp)
|
|
|
NM_015102.5(NPHP4):c.3231+4C>T
|
|
|
NM_015102.5(NPHP4):c.3231+6G>A
|
|
|
NM_015102.5(NPHP4):c.3252C>G (p.Asn1084Lys)
|
rs778087914
|
|
NM_015102.5(NPHP4):c.3253G>A (p.Glu1085Lys)
|
rs1479758700
|
|
NM_015102.5(NPHP4):c.3274T>C (p.Ser1092Pro)
|
rs2100596464
|
|
NM_015102.5(NPHP4):c.3299C>A (p.Pro1100His)
|
|
|
NM_015102.5(NPHP4):c.3301A>G (p.Thr1101Ala)
|
rs372569755
|
|
NM_015102.5(NPHP4):c.3316G>T (p.Val1106Phe)
|
rs1641420975
|
|
NM_015102.5(NPHP4):c.3337G>A (p.Gly1113Ser)
|
rs2100470828
|
|
NM_015102.5(NPHP4):c.3338G>A (p.Gly1113Asp)
|
|
|
NM_015102.5(NPHP4):c.3360C>G (p.Cys1120Trp)
|
|
|
NM_015102.5(NPHP4):c.3373C>A (p.Leu1125Met)
|
rs2100469427
|
|
NM_015102.5(NPHP4):c.3379C>T (p.Pro1127Ser)
|
|
|
NM_015102.5(NPHP4):c.3388G>A (p.Val1130Met)
|
rs368313554
|
|
NM_015102.5(NPHP4):c.3389T>C (p.Val1130Ala)
|
rs752042066
|
|
NM_015102.5(NPHP4):c.3389T>G (p.Val1130Gly)
|
rs752042066
|
|
NM_015102.5(NPHP4):c.3393C>A (p.Asp1131Glu)
|
rs2100468544
|
|
NM_015102.5(NPHP4):c.3398T>C (p.Val1133Ala)
|
rs2100468384
|
|
NM_015102.5(NPHP4):c.343G>A (p.Glu115Lys)
|
|
|
NM_015102.5(NPHP4):c.3440C>T (p.Ala1147Val)
|
|
|
NM_015102.5(NPHP4):c.3461A>G (p.His1154Arg)
|
|
|
NM_015102.5(NPHP4):c.3467T>A (p.Phe1156Tyr)
|
|
|
NM_015102.5(NPHP4):c.3484G>C (p.Gly1162Arg)
|
rs1304901558
|
|
NM_015102.5(NPHP4):c.3508G>C (p.Val1170Leu)
|
|
|
NM_015102.5(NPHP4):c.3512A>T (p.His1171Leu)
|
rs1036719782
|
|
NM_015102.5(NPHP4):c.3517C>G (p.Arg1173Gly)
|
rs772682572
|
|
NM_015102.5(NPHP4):c.3521G>A (p.Cys1174Tyr)
|
rs1641309754
|
|
NM_015102.5(NPHP4):c.3521G>T (p.Cys1174Phe)
|
|
|
NM_015102.5(NPHP4):c.3525C>A (p.Ser1175Arg)
|
|
|
NM_015102.5(NPHP4):c.3538A>T (p.Ile1180Phe)
|
rs956330607
|
|
NM_015102.5(NPHP4):c.3565G>A (p.Gly1189Arg)
|
|
|
NM_015102.5(NPHP4):c.3570A>C (p.Glu1190Asp)
|
rs555164
|
|
NM_015102.5(NPHP4):c.3580A>T (p.Ile1194Leu)
|
rs1201512603
|
|
NM_015102.5(NPHP4):c.3598A>G (p.Ser1200Gly)
|
|
|
NM_015102.5(NPHP4):c.3615G>C (p.Glu1205Asp)
|
|
|
NM_015102.5(NPHP4):c.3631G>A (p.Val1211Ile)
|
|
|
NM_015102.5(NPHP4):c.3636C>G (p.Ile1212Met)
|
|
|
NM_015102.5(NPHP4):c.3644C>T (p.Ser1215Leu)
|
|
|
NM_015102.5(NPHP4):c.3656T>C (p.Leu1219Pro)
|
rs1641092466
|
|
NM_015102.5(NPHP4):c.3670C>G (p.Gln1224Glu)
|
rs1469154562
|
|
NM_015102.5(NPHP4):c.3702G>A (p.Gln1234=)
|
|
|
NM_015102.5(NPHP4):c.3718T>C (p.Cys1240Arg)
|
rs1028037857
|
|
NM_015102.5(NPHP4):c.371A>G (p.Gln124Arg)
|
rs1652098180
|
|
NM_015102.5(NPHP4):c.3737C>G (p.Thr1246Ser)
|
|
|
NM_015102.5(NPHP4):c.3748C>T (p.Leu1250Phe)
|
|
|
NM_015102.5(NPHP4):c.3749T>G (p.Leu1250Arg)
|
|
|
NM_015102.5(NPHP4):c.3788C>G (p.Ala1263Gly)
|
rs1641072103
|
|
NM_015102.5(NPHP4):c.3802C>A (p.Pro1268Thr)
|
rs1641070727
|
|
NM_015102.5(NPHP4):c.3806A>C (p.Gln1269Pro)
|
rs747971299
|
|
NM_015102.5(NPHP4):c.3808G>A (p.Glu1270Lys)
|
|
|
NM_015102.5(NPHP4):c.3810G>C (p.Glu1270Asp)
|
rs1344500018
|
|
NM_015102.5(NPHP4):c.3816G>C (p.Lys1272Asn)
|
|
|
NM_015102.5(NPHP4):c.3830G>T (p.Gly1277Val)
|
|
|
NM_015102.5(NPHP4):c.3836T>C (p.Phe1279Ser)
|
rs1385575531
|
|
NM_015102.5(NPHP4):c.3838G>A (p.Val1280Met)
|
rs751907566
|
|
NM_015102.5(NPHP4):c.3838G>C (p.Val1280Leu)
|
rs751907566
|
|
NM_015102.5(NPHP4):c.3848C>T (p.Pro1283Leu)
|
rs765510993
|
|
NM_015102.5(NPHP4):c.3853G>C (p.Gly1285Arg)
|
rs537859714
|
|
NM_015102.5(NPHP4):c.3854G>C (p.Gly1285Ala)
|
rs1192199886
|
|
NM_015102.5(NPHP4):c.3877G>T (p.Val1293Leu)
|
rs769488870
|
|
NM_015102.5(NPHP4):c.3886C>T (p.Leu1296Phe)
|
rs2100388131
|
|
NM_015102.5(NPHP4):c.3902G>T (p.Arg1301Leu)
|
rs760871475
|
|
NM_015102.5(NPHP4):c.3913C>A (p.Leu1305Ile)
|
rs2100386839
|
|
NM_015102.5(NPHP4):c.3971G>C (p.Cys1324Ser)
|
rs1371346310
|
|
NM_015102.5(NPHP4):c.3996+4T>C
|
|
|
NM_015102.5(NPHP4):c.3998C>G (p.Ala1333Gly)
|
rs2100375514
|
|
NM_015102.5(NPHP4):c.401G>A (p.Arg134Gln)
|
|
|
NM_015102.5(NPHP4):c.4024G>A (p.Glu1342Lys)
|
|
|
NM_015102.5(NPHP4):c.4028G>A (p.Gly1343Glu)
|
rs1350286134
|
|
NM_015102.5(NPHP4):c.4046G>A (p.Arg1349Lys)
|
rs2100373812
|
|
NM_015102.5(NPHP4):c.4051A>C (p.Thr1351Pro)
|
rs746129070
|
|
NM_015102.5(NPHP4):c.4052C>G (p.Thr1351Ser)
|
rs1347409180
|
|
NM_015102.5(NPHP4):c.4065del (p.Tyr1356fs)
|
|
|
NM_015102.5(NPHP4):c.4067A>T (p.Tyr1356Phe)
|
rs747071185
|
|
NM_015102.5(NPHP4):c.4073C>T (p.Ser1358Phe)
|
|
|
NM_015102.5(NPHP4):c.4093C>T (p.His1365Tyr)
|
rs2100372334
|
|
NM_015102.5(NPHP4):c.4117C>T (p.Arg1373Trp)
|
rs1417370808
|
|
NM_015102.5(NPHP4):c.4140+9G>A
|
|
|
NM_015102.5(NPHP4):c.4141G>A (p.Val1381Ile)
|
|
|
NM_015102.5(NPHP4):c.4157C>A (p.Thr1386Asn)
|
rs1255225068
|
|
NM_015102.5(NPHP4):c.4163C>T (p.Thr1388Ile)
|
rs1640835287
|
|
NM_015102.5(NPHP4):c.4172T>A (p.Leu1391Ter)
|
rs2100357134
|
|
NM_015102.5(NPHP4):c.4175A>G (p.Gln1392Arg)
|
|
|
NM_015102.5(NPHP4):c.4195G>A (p.Val1399Met)
|
rs1640830274
|
|
NM_015102.5(NPHP4):c.4196T>C (p.Val1399Ala)
|
|
|
NM_015102.5(NPHP4):c.4198G>A (p.Gly1400Ser)
|
rs1640829676
|
|
NM_015102.5(NPHP4):c.4217T>G (p.Ile1406Ser)
|
rs2100356021
|
|
NM_015102.5(NPHP4):c.4222A>G (p.Ile1408Val)
|
rs1640827027
|
|
NM_015102.5(NPHP4):c.4225A>G (p.Asn1409Asp)
|
|
|
NM_015102.5(NPHP4):c.4232A>G (p.His1411Arg)
|
|
|
NM_015102.5(NPHP4):c.4246G>A (p.Glu1416Lys)
|
|
|
NM_015102.5(NPHP4):c.4249G>A (p.Glu1417Lys)
|
rs746775119
|
|
NM_015102.5(NPHP4):c.4267G>C (p.Val1423Leu)
|
|
|
NM_015102.5(NPHP4):c.427C>T (p.Pro143Ser)
|
|
|
NM_015102.5(NPHP4):c.431T>A (p.Ile144Asn)
|
|
|
NM_015102.5(NPHP4):c.43C>T (p.Pro15Ser)
|
|
|
NM_015102.5(NPHP4):c.442C>G (p.Gln148Glu)
|
rs372862010
|
|
NM_015102.5(NPHP4):c.446A>G (p.Asp149Gly)
|
|
|
NM_015102.5(NPHP4):c.44C>T (p.Pro15Leu)
|
|
|
NM_015102.5(NPHP4):c.453-3C>G
|
|
|
NM_015102.5(NPHP4):c.464A>G (p.Tyr155Cys)
|
rs1651713266
|
|
NM_015102.5(NPHP4):c.466C>T (p.His156Tyr)
|
|
|
NM_015102.5(NPHP4):c.46C>T (p.Pro16Ser)
|
rs569481065
|
|
NM_015102.5(NPHP4):c.473C>A (p.Thr158Asn)
|
rs1651710968
|
|
NM_015102.5(NPHP4):c.473C>T (p.Thr158Ile)
|
|
|
NM_015102.5(NPHP4):c.493C>T (p.Pro165Ser)
|
rs772978482
|
|
NM_015102.5(NPHP4):c.508C>T (p.Pro170Ser)
|
rs1052194098
|
|
NM_015102.5(NPHP4):c.517C>A (p.Gln173Lys)
|
|
|
NM_015102.5(NPHP4):c.548G>C (p.Cys183Ser)
|
|
|
NM_015102.5(NPHP4):c.599A>G (p.His200Arg)
|
rs878854994
|
|
NM_015102.5(NPHP4):c.605T>C (p.Leu202Pro)
|
rs758798813
|
|
NM_015102.5(NPHP4):c.61G>A (p.Ala21Thr)
|
|
|
NM_015102.5(NPHP4):c.665G>C (p.Gly222Ala)
|
rs2102140145
|
|
NM_015102.5(NPHP4):c.671C>G (p.Ser224Cys)
|
rs1650382303
|
|
NM_015102.5(NPHP4):c.673+18T>G
|
|
|
NM_015102.5(NPHP4):c.674-3C>T
|
rs1000557946
|
|
NM_015102.5(NPHP4):c.679G>A (p.Ala227Thr)
|
rs1196644142
|
|
NM_015102.5(NPHP4):c.686G>A (p.Arg229Gln)
|
rs756137436
|
|
NM_015102.5(NPHP4):c.71C>G (p.Pro24Arg)
|
|
|
NM_015102.5(NPHP4):c.725A>G (p.Asp242Gly)
|
|
|
NM_015102.5(NPHP4):c.742C>G (p.Leu248Val)
|
|
|
NM_015102.5(NPHP4):c.766G>A (p.Glu256Lys)
|
|
|
NM_015102.5(NPHP4):c.771A>C (p.Glu257Asp)
|
rs1648398783
|
|
NM_015102.5(NPHP4):c.829G>A (p.Gly277Ser)
|
|
|
NM_015102.5(NPHP4):c.829G>C (p.Gly277Arg)
|
|
|
NM_015102.5(NPHP4):c.832G>A (p.Gly278Ser)
|
|
|
NM_015102.5(NPHP4):c.833G>T (p.Gly278Val)
|
|
|
NM_015102.5(NPHP4):c.835G>T (p.Ala279Ser)
|
|
|
NM_015102.5(NPHP4):c.857G>A (p.Arg286His)
|
|
|
NM_015102.5(NPHP4):c.862C>G (p.Arg288Gly)
|
rs372256352
|
|
NM_015102.5(NPHP4):c.862C>T (p.Arg288Cys)
|
rs372256352
|
|
NM_015102.5(NPHP4):c.871G>C (p.Val291Leu)
|
|
|
NM_015102.5(NPHP4):c.871_889delinsC (p.Val291_Phe297delinsLeu)
|
rs1553186265
|
|
NM_015102.5(NPHP4):c.873_890del (p.His292_Phe297del)
|
|
|
NM_015102.5(NPHP4):c.890T>A (p.Phe297Tyr)
|
|
|
NM_015102.5(NPHP4):c.897G>C (p.Gln299His)
|
|
|
NM_015102.5(NPHP4):c.922C>T (p.Pro308Ser)
|
rs1570585632
|
|
NM_015102.5(NPHP4):c.926A>G (p.Glu309Gly)
|
|
|
NM_015102.5(NPHP4):c.92T>C (p.Phe31Ser)
|
|
|
NM_015102.5(NPHP4):c.932A>G (p.Asp311Gly)
|
rs371217093
|
|
NM_015102.5(NPHP4):c.962G>T (p.Ser321Ile)
|
rs1046803552
|
|
NM_015102.5(NPHP4):c.964_965inv (p.Arg322Leu)
|
|
|
NM_015102.5(NPHP4):c.973G>C (p.Val325Leu)
|
|
|
NM_015102.5(NPHP4):c.977C>T (p.Ser326Phe)
|
|
|
NM_015102.5(NPHP4):c.985A>C (p.Lys329Gln)
|
|
|
NM_015102.5(NPHP4):c.992+4T>G
|
rs1647207716
|
|
NM_015102.5(NPHP4):c.992G>C (p.Ser331Thr)
|
|
|
NM_015102.5(NPHP4):c.993-3C>G
|
|
|
NM_015272.5(RPGRIP1L):c.3617-13dup
|
rs750499169
|
|
NM_015662.3(IFT172):c.2327C>T (p.Ala776Val)
|
rs1317766293
|
|
NM_020762.4(SRGAP1):c.806G>A (p.Cys269Tyr)
|
rs1208074975
|
|
NM_032575.3(GLIS2):c.*291TCC[1]
|
rs377612419
|
|
NM_032575.3(GLIS2):c.*887G>C
|
rs886051997
|
|
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.1202G>T (p.Gly401Val)
|
rs1433611737
|
|
NM_032575.3(GLIS2):c.1256C>T (p.Ser419Leu)
|
rs781541345
|
|
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.1475C>T (p.Thr492Met)
|
rs762640275
|
|
NM_032575.3(GLIS2):c.1480G>A (p.Val494Ile)
|
|
|
NM_032575.3(GLIS2):c.278A>G (p.Asn93Ser)
|
|
|
NM_032575.3(GLIS2):c.362G>A (p.Arg121His)
|
|
|
NM_032575.3(GLIS2):c.512G>A (p.Arg171His)
|
|
|
NM_032575.3(GLIS2):c.608G>A (p.Cys203Tyr)
|
|
|
NM_032575.3(GLIS2):c.628G>A (p.Ala210Thr)
|
|
|
NM_032575.3(GLIS2):c.706C>T (p.Arg236Cys)
|
rs140720783
|
|
NM_153240.5(NPHP3):c.*121_*123del
|
rs371974858
|
|
NM_153240.5(NPHP3):c.*650_*651del
|
rs886058000
|
|
NM_153240.5(NPHP3):c.*652_*653del
|
rs886057999
|
|
NM_153240.5(NPHP3):c.*652del
|
rs369921629
|
|
NM_153240.5(NPHP3):c.*654dup
|
rs886057998
|
|
NM_153240.5(NPHP3):c.1009C>T (p.His337Tyr)
|
rs769409934
|
|
NM_153240.5(NPHP3):c.1118G>A (p.Ser373Asn)
|
rs1939959019
|
|
NM_153240.5(NPHP3):c.1119C>A (p.Ser373Arg)
|
|
|
NM_153240.5(NPHP3):c.1119C>G (p.Ser373Arg)
|
|
|
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.1179A>T (p.Leu393Phe)
|
|
|
NM_153240.5(NPHP3):c.1181T>A (p.Ile394Asn)
|
rs753749299
|
|
NM_153240.5(NPHP3):c.1211G>T (p.Ser404Ile)
|
rs765850571
|
|
NM_153240.5(NPHP3):c.1230A>G (p.Gln410=)
|
|
|
NM_153240.5(NPHP3):c.1243G>T (p.Val415Phe)
|
|
|
NM_153240.5(NPHP3):c.1288T>C (p.Ser430Pro)
|
rs151118635
|
|
NM_153240.5(NPHP3):c.1319C>T (p.Thr440Ile)
|
|
|
NM_153240.5(NPHP3):c.1322A>G (p.Tyr441Cys)
|
rs1939731078
|
|
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+5A>G
|
rs1422460034
|
|
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.1457A>G (p.Asp486Gly)
|
rs1553773832
|
|
NM_153240.5(NPHP3):c.146C>G (p.Ala49Gly)
|
rs763420553
|
|
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>T (p.Ser5Leu)
|
|
|
NM_153240.5(NPHP3):c.1514G>C (p.Gly505Ala)
|
rs368008794
|
|
NM_153240.5(NPHP3):c.151G>A (p.Ala51Thr)
|
|
|
NM_153240.5(NPHP3):c.151_152delinsTT (p.Ala51Leu)
|
rs1553775776
|
|
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.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.1571C>T (p.Pro524Leu)
|
rs1309124422
|
|
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.1649A>G (p.Asn550Ser)
|
|
|
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.170C>T (p.Pro57Leu)
|
|
|
NM_153240.5(NPHP3):c.1714T>C (p.Ser572Pro)
|
rs781274734
|
|
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+3A>G
|
rs750181541
|
|
NM_153240.5(NPHP3):c.1748T>C (p.Met583Thr)
|
|
|
NM_153240.5(NPHP3):c.1751A>G (p.Gln584Arg)
|
rs1939565151
|
|
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.1794G>C (p.Lys598Asn)
|
|
|
NM_153240.5(NPHP3):c.1814G>A (p.Arg605His)
|
rs763388690
|
|
NM_153240.5(NPHP3):c.1817G>T (p.Trp606Leu)
|
|
|
NM_153240.5(NPHP3):c.1838G>A (p.Arg613His)
|
|
|
NM_153240.5(NPHP3):c.1861G>A (p.Val621Ile)
|
|
|
NM_153240.5(NPHP3):c.187G>C (p.Gly63Arg)
|
rs753458157
|
|
NM_153240.5(NPHP3):c.1887+5C>T
|
rs1939561378
|
|
NM_153240.5(NPHP3):c.1913T>C (p.Leu638Pro)
|
rs2107980092
|
|
NM_153240.5(NPHP3):c.1936G>T (p.Val646Leu)
|
rs1362469132
|
|
NM_153240.5(NPHP3):c.1945A>C (p.Ile649Leu)
|
rs1213749947
|
|
NM_153240.5(NPHP3):c.197C>T (p.Ala66Val)
|
rs2108007880
|
|
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>T (p.Leu663Phe)
|
rs1939482136
|
|
NM_153240.5(NPHP3):c.1dup (p.Met1fs)
|
rs2108008416
|
|
NM_153240.5(NPHP3):c.2035T>G (p.Ser679Ala)
|
rs767716649
|
|
NM_153240.5(NPHP3):c.2085G>C (p.Glu695Asp)
|
rs553166708
|
|
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.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.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.2183C>G (p.Ala728Gly)
|
rs2107974706
|
|
NM_153240.5(NPHP3):c.2186G>A (p.Gly729Asp)
|
|
|
NM_153240.5(NPHP3):c.2201T>G (p.Ile734Ser)
|
|
|
NM_153240.5(NPHP3):c.2220G>C (p.Gln740His)
|
rs148515364
|
|
NM_153240.5(NPHP3):c.2233C>G (p.Leu745Val)
|
|
|
NM_153240.5(NPHP3):c.2263A>G (p.Ile755Val)
|
rs772613405
|
|
NM_153240.5(NPHP3):c.22G>T (p.Val8Leu)
|
|
|
NM_153240.5(NPHP3):c.2320C>T (p.Leu774Phe)
|
|
|
NM_153240.5(NPHP3):c.2389A>G (p.Thr797Ala)
|
rs1215241671
|
|
NM_153240.5(NPHP3):c.2397G>C (p.Leu799Phe)
|
rs1060503157
|
|
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.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.2479T>G (p.Trp827Gly)
|
|
|
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.2564A>G (p.Gln855Arg)
|
|
|
NM_153240.5(NPHP3):c.2582T>C (p.Val861Ala)
|
|
|
NM_153240.5(NPHP3):c.265G>A (p.Ala89Thr)
|
rs1432366479
|
|
NM_153240.5(NPHP3):c.2675C>T (p.Ser892Phe)
|
|
|
NM_153240.5(NPHP3):c.2692A>C (p.Arg898=)
|
|
|
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.2783A>G (p.Gln928Arg)
|
rs751790371
|
|
NM_153240.5(NPHP3):c.2800G>A (p.Glu934Lys)
|
|
|
NM_153240.5(NPHP3):c.2813A>C (p.Asn938Thr)
|
rs1939236897
|
|
NM_153240.5(NPHP3):c.2840A>G (p.Glu947Gly)
|
|
|
NM_153240.5(NPHP3):c.2857C>G (p.Leu953Val)
|
|
|
NM_153240.5(NPHP3):c.2879G>A (p.Ser960Asn)
|
rs1939235108
|
|
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.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.2995A>C (p.Lys999Gln)
|
rs559425353
|
|
NM_153240.5(NPHP3):c.2995A>G (p.Lys999Glu)
|
rs559425353
|
|
NM_153240.5(NPHP3):c.3008A>G (p.Asn1003Ser)
|
|
|
NM_153240.5(NPHP3):c.3023A>G (p.Tyr1008Cys)
|
rs2107967560
|
|
NM_153240.5(NPHP3):c.3040A>T (p.Ile1014Phe)
|
rs1939224766
|
|
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.3125+15A>G
|
|
|
NM_153240.5(NPHP3):c.3126-12dup
|
rs398124547
|
|
NM_153240.5(NPHP3):c.3126-3A>C
|
rs1939185158
|
|
NM_153240.5(NPHP3):c.3126-6T>G
|
rs1405952605
|
|
NM_153240.5(NPHP3):c.3128A>G (p.Tyr1043Cys)
|
|
|
NM_153240.5(NPHP3):c.3128A>T (p.Tyr1043Phe)
|
rs368696653
|
|
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.3172C>A (p.Gln1058Lys)
|
|
|
NM_153240.5(NPHP3):c.3181A>G (p.Ile1061Val)
|
|
|
NM_153240.5(NPHP3):c.3201+6G>A
|
|
|
NM_153240.5(NPHP3):c.3202-3C>G
|
rs748849731
|
|
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.326TGT[1] (p.Leu110del)
|
rs753616848
|
|
NM_153240.5(NPHP3):c.328T>G (p.Leu110Val)
|
rs369995775
|
|
NM_153240.5(NPHP3):c.3296T>G (p.Leu1099Arg)
|
|
|
NM_153240.5(NPHP3):c.329T>C (p.Leu110Ser)
|
|
|
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.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.340C>T (p.Arg114Cys)
|
|
|
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.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.3571-11_3571-10del
|
|
|
NM_153240.5(NPHP3):c.3571-3T>C
|
|
|
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.3607G>A (p.Ala1203Thr)
|
|
|
NM_153240.5(NPHP3):c.362C>G (p.Thr121Arg)
|
rs1940240950
|
|
NM_153240.5(NPHP3):c.3635G>T (p.Gly1212Val)
|
|
|
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.3697-11_3697-7del
|
rs564013823
|
|
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.3697-9T>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.3734C>A (p.Ala1245Glu)
|
rs1939065629
|
|
NM_153240.5(NPHP3):c.3734C>T (p.Ala1245Val)
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|
|
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)
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|
|
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.3809T>C (p.Leu1270Pro)
|
rs794727430
|
|
NM_153240.5(NPHP3):c.3812+4A>T
|
|
|
NM_153240.5(NPHP3):c.3813-12TC[2]
|
|
|
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.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.389T>A (p.Leu130Gln)
|
rs2108007468
|
|
NM_153240.5(NPHP3):c.392A>G (p.Gln131Arg)
|
|
|
NM_153240.5(NPHP3):c.3935C>T (p.Thr1312Met)
|
|
|
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.403A>G (p.Lys135Glu)
|
rs2108003849
|
|
NM_153240.5(NPHP3):c.40G>A (p.Glu14Lys)
|
rs761435204
|
|
NM_153240.5(NPHP3):c.428A>G (p.Glu143Gly)
|
rs1576688460
|
|
NM_153240.5(NPHP3):c.445G>A (p.Glu149Lys)
|
rs1940155952
|
|
NM_153240.5(NPHP3):c.449C>G (p.Ala150Gly)
|
|
|
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.502G>A (p.Val168Ile)
|
|
|
NM_153240.5(NPHP3):c.520-10C>A
|
rs200144727
|
|
NM_153240.5(NPHP3):c.520A>T (p.Ile174Phe)
|
rs1553775338
|
|
NM_153240.5(NPHP3):c.523T>G (p.Phe175Val)
|
|
|
NM_153240.5(NPHP3):c.545A>G (p.Glu182Gly)
|
|
|
NM_153240.5(NPHP3):c.572G>A (p.Arg191Lys)
|
|
|
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.613A>G (p.Ile205Val)
|
rs1940132597
|
|
NM_153240.5(NPHP3):c.625G>A (p.Asp209Asn)
|
rs1940132320
|
|
NM_153240.5(NPHP3):c.632G>T (p.Gly211Val)
|
|
|
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.727A>G (p.Ile243Val)
|
rs1560016174
|
|
NM_153240.5(NPHP3):c.73G>T (p.Gly25Cys)
|
|
|
NM_153240.5(NPHP3):c.76G>A (p.Glu26Lys)
|
rs1465502034
|
|
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.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+6G>A
|
|
|
NM_153240.5(NPHP3):c.961T>C (p.Tyr321His)
|
|
|
NM_153240.5(NPHP3):c.991A>G (p.Thr331Ala)
|
rs113091599
|
|
NM_153704.6(TMEM67):c.119CTTTCC[3] (p.Pro42_Phe43dup)
|
rs886063171
|
|