NM_032575.3(GLIS2):c.864T>C (p.Tyr288=)
|
rs669561
|
0.97986
|
NM_015102.5(NPHP4):c.2818-2=
|
rs1217117155
|
0.84829
|
NM_001023570.4(IQCB1):c.574C>T (p.Leu192=)
|
rs4543051
|
0.64838
|
NM_014425.5(INVS):c.2412T>C (p.Ser804=)
|
rs2787374
|
0.53208
|
NM_153240.4(NPHP3):c.-69A>G
|
rs13099099
|
0.49619
|
NM_001128178.3(NPHP1):c.654G>A (p.Glu218=)
|
rs11675767
|
0.38033
|
NM_015102.5(NPHP4):c.2802C>T (p.Arg934=)
|
rs3747992
|
0.36928
|
NM_015102.5(NPHP4):c.3570A>G (p.Glu1190=)
|
rs555164
|
0.35094
|
NM_014425.5(INVS):c.1235-5T>C
|
rs2245216
|
0.30271
|
NM_032575.3(GLIS2):c.1311A>C (p.Ala437=)
|
rs3810817
|
0.27719
|
NM_001023570.4(IQCB1):c.1301G>A (p.Cys434Tyr)
|
rs17849995
|
0.25469
|
NM_014425.5(INVS):c.274-15_274-14del
|
rs61147858
|
0.18785
|
NM_014425.5(INVS):c.-110T>G
|
rs7024375
|
0.17693
|
NM_015102.5(NPHP4):c.1441+13A>G
|
rs7520105
|
0.17476
|
NM_153240.5(NPHP3):c.3759G>A (p.Leu1253=)
|
rs6794496
|
0.13621
|
NM_015102.5(NPHP4):c.2643G>A (p.Ala881=)
|
rs3747990
|
0.11763
|
NM_015102.5(NPHP4):c.1926G>A (p.Glu642=)
|
rs12120967
|
0.11732
|
NM_001023570.4(IQCB1):c.1178T>A (p.Ile393Asn)
|
rs1141528
|
0.09226
|
NM_032575.3(GLIS2):c.1474A>G (p.Thr492Ala)
|
rs8057701
|
0.06483
|
NM_015102.5(NPHP4):c.1470C>T (p.Leu490=)
|
rs12116997
|
0.04804
|
NM_015102.5(NPHP4):c.86C>T (p.Thr29Met)
|
rs12142270
|
0.04382
|
NM_153240.5(NPHP3):c.2610G>A (p.Pro870=)
|
rs16839515
|
0.04323
|
NM_001128178.3(NPHP1):c.771+39C>T
|
rs73954628
|
0.03266
|
NM_015102.5(NPHP4):c.2724G>A (p.Ser908=)
|
rs114545322
|
0.03032
|
NM_153240.5(NPHP3):c.2571-7T>C
|
rs62292468
|
0.02974
|
NM_014425.5(INVS):c.2402G>A (p.Gly801Glu)
|
rs76868679
|
0.02854
|
NM_015102.5(NPHP4):c.1631C>G (p.Ala544Gly)
|
rs12093500
|
0.02840
|
NM_001128178.3(NPHP1):c.115C>A (p.Pro39Thr)
|
rs33958626
|
0.02731
|
NM_015102.5(NPHP4):c.2219G>A (p.Arg740His)
|
rs34248917
|
0.02256
|
NM_014425.5(INVS):c.616-19T>C
|
rs78038572
|
0.01891
|
NM_032575.3(GLIS2):c.223G>T (p.Ala75Ser)
|
rs72766563
|
0.01854
|
NM_153240.5(NPHP3):c.864T>A (p.Thr288=)
|
rs147932449
|
0.01825
|
NM_153240.5(NPHP3):c.3913C>T (p.Arg1305Cys)
|
rs35485382
|
0.01709
|
NM_015102.5(NPHP4):c.3243G>C (p.Gly1081=)
|
rs41280800
|
0.01658
|
NM_015102.5(NPHP4):c.1611+9C>T
|
rs114900019
|
0.01637
|
NM_015102.5(NPHP4):c.2542C>T (p.Arg848Trp)
|
rs17472401
|
0.01606
|
NM_153240.5(NPHP3):c.1986G>A (p.Arg662=)
|
rs77533254
|
0.01496
|
NM_015102.5(NPHP4):c.2808G>A (p.Thr936=)
|
rs17028857
|
0.01235
|
NM_001023570.4(IQCB1):c.1303C>T (p.Arg435Cys)
|
rs11920543
|
0.01165
|
NM_015102.5(NPHP4):c.3479C>T (p.Pro1160Leu)
|
rs113445782
|
0.01143
|
NM_001128178.3(NPHP1):c.689C>T (p.Ala230Val)
|
rs113450177
|
0.01140
|
NM_153240.5(NPHP3):c.57G>C (p.Thr19=)
|
rs192633696
|
0.01128
|
NM_001023570.4(IQCB1):c.424T>C (p.Phe142Leu)
|
rs11926958
|
0.01125
|
NM_015102.5(NPHP4):c.2031C>T (p.Pro677=)
|
rs34373111
|
0.01102
|
NM_015102.5(NPHP4):c.2876G>A (p.Arg959Gln)
|
rs12084067
|
0.01099
|
NM_001128178.3(NPHP1):c.1529+19C>T
|
rs112090979
|
0.01096
|
NM_153240.5(NPHP3):c.154G>A (p.Ala52Thr)
|
rs145643112
|
0.01037
|
NM_015102.5(NPHP4):c.1852G>A (p.Glu618Lys)
|
rs571655
|
0.01009
|
NM_015102.5(NPHP4):c.3876C>T (p.Gly1292=)
|
rs115526767
|
0.00982
|
NM_032575.3(GLIS2):c.1259C>T (p.Pro420Leu)
|
rs75495782
|
0.00923
|
NM_153240.5(NPHP3):c.450G>A (p.Ala150=)
|
rs78527322
|
0.00906
|
NM_032575.3(GLIS2):c.70C>A (p.Arg24=)
|
rs34543395
|
0.00866
|
NM_001128178.3(NPHP1):c.772-17G>A
|
rs146343637
|
0.00862
|
NM_032575.3(GLIS2):c.894C>T (p.Pro298=)
|
rs112926217
|
0.00791
|
NM_153240.5(NPHP3):c.3550G>A (p.Ala1184Thr)
|
rs34391943
|
0.00744
|
NM_015102.5(NPHP4):c.1542G>A (p.Pro514=)
|
rs35264155
|
0.00677
|
NM_153240.5(NPHP3):c.3941G>C (p.Ser1314Thr)
|
rs75316802
|
0.00658
|
NM_153240.5(NPHP3):c.3252A>G (p.Thr1084=)
|
rs11915053
|
0.00629
|
NM_032575.3(GLIS2):c.1476G>A (p.Thr492=)
|
rs140403969
|
0.00608
|
NM_015102.5(NPHP4):c.1442-7C>T
|
rs146078470
|
0.00599
|
NM_015102.5(NPHP4):c.3674C>T (p.Thr1225Met)
|
rs144624477
|
0.00576
|
NM_014425.5(INVS):c.102C>T (p.Ile34=)
|
rs115640267
|
0.00549
|
NM_014425.5(INVS):c.740A>G (p.Asn247Ser)
|
rs41312220
|
0.00526
|
NM_014425.5(INVS):c.725C>T (p.Ser242Leu)
|
rs2491097
|
0.00485
|
NM_015102.5(NPHP4):c.3894C>T (p.Ala1298=)
|
rs60094861
|
0.00477
|
NM_032575.3(GLIS2):c.1464G>A (p.Leu488=)
|
rs149580171
|
0.00467
|
NM_015102.5(NPHP4):c.2812G>A (p.Val938Met)
|
rs184961418
|
0.00460
|
NM_015102.5(NPHP4):c.1705C>G (p.Gln569Glu)
|
rs113413307
|
0.00443
|
NM_015102.5(NPHP4):c.2293G>A (p.Val765Ile)
|
rs149244006
|
0.00420
|
NM_015102.5(NPHP4):c.2681A>G (p.His894Arg)
|
rs113097479
|
0.00418
|
NM_015102.5(NPHP4):c.511G>A (p.Ala171Thr)
|
rs113765431
|
0.00408
|
NM_153240.5(NPHP3):c.2089-9C>T
|
rs141397228
|
0.00404
|
NM_015102.5(NPHP4):c.279+11G>A
|
rs113902159
|
0.00401
|
NM_014425.5(INVS):c.1948G>C (p.Ala650Pro)
|
rs147452898
|
0.00394
|
NM_014425.5(INVS):c.2116A>G (p.Arg706Gly)
|
rs116222916
|
0.00384
|
NM_015102.5(NPHP4):c.3329C>T (p.Ala1110Val)
|
rs139767853
|
0.00374
|
NM_015102.5(NPHP4):c.1503+10G>A
|
rs41307782
|
0.00367
|
NM_001128178.3(NPHP1):c.14G>T (p.Arg5Leu)
|
rs190983114
|
0.00366
|
NM_153240.5(NPHP3):c.520-10C>G
|
rs200144727
|
0.00362
|
NM_153240.5(NPHP3):c.1189C>T (p.Arg397Cys)
|
rs141477666
|
0.00334
|
NM_015102.5(NPHP4):c.2914A>G (p.Ser972Gly)
|
rs187947581
|
0.00330
|
NM_015102.5(NPHP4):c.4237G>A (p.Asp1413Asn)
|
rs115910810
|
0.00328
|
NM_014425.5(INVS):c.1284T>C (p.His428=)
|
rs77465715
|
0.00312
|
NM_032575.3(GLIS2):c.775+20C>T
|
rs116598071
|
0.00297
|
NM_015102.5(NPHP4):c.3559-19del
|
rs201335783
|
0.00292
|
NM_015102.5(NPHP4):c.3036C>T (p.Pro1012=)
|
rs34265978
|
0.00283
|
NM_001023570.4(IQCB1):c.588T>C (p.Ser196=)
|
rs80015876
|
0.00267
|
NM_015102.5(NPHP4):c.1622C>T (p.Pro541Leu)
|
rs145255635
|
0.00265
|
NM_032575.3(GLIS2):c.415G>A (p.Gly139Arg)
|
rs147175353
|
0.00265
|
NM_001023570.4(IQCB1):c.1549A>T (p.Asn517Tyr)
|
rs139468837
|
0.00237
|
NM_014425.5(INVS):c.2803C>T (p.His935Tyr)
|
rs139768159
|
0.00232
|
NM_153240.5(NPHP3):c.2693+17A>G
|
rs200046908
|
0.00212
|
NM_001128178.3(NPHP1):c.133A>C (p.Ile45Leu)
|
rs145479679
|
0.00211
|
NM_015102.5(NPHP4):c.2882G>A (p.Arg961His)
|
rs183885357
|
0.00200
|
NM_015102.5(NPHP4):c.2868C>T (p.Ala956=)
|
rs138025088
|
0.00188
|
NM_001128178.3(NPHP1):c.1270-4C>T
|
rs151204566
|
0.00181
|
NM_014425.5(INVS):c.3017-5T>G
|
rs201018893
|
0.00177
|
NM_015102.5(NPHP4):c.810+14A>C
|
rs201977545
|
0.00173
|
NM_014425.5(INVS):c.2193C>T (p.Gly731=)
|
rs148758887
|
0.00158
|
NM_032575.3(GLIS2):c.1011G>A (p.Pro337=)
|
rs200814551
|
0.00156
|
NM_153240.5(NPHP3):c.449C>T (p.Ala150Val)
|
rs142663818
|
0.00142
|
NM_032575.3(GLIS2):c.1010C>T (p.Pro337Leu)
|
rs140544340
|
0.00128
|
NM_015102.5(NPHP4):c.3911A>G (p.His1304Arg)
|
rs115488133
|
0.00124
|
NM_153240.5(NPHP3):c.2883+13G>C
|
rs112375565
|
0.00122
|
NM_153240.5(NPHP3):c.3189A>G (p.Lys1063=)
|
rs112386774
|
0.00121
|
NM_153240.5(NPHP3):c.3570+9G>T
|
rs112749193
|
0.00121
|
NM_153240.5(NPHP3):c.3093A>G (p.Glu1031=)
|
rs112300370
|
0.00120
|
NM_015102.5(NPHP4):c.1024C>T (p.Arg342Cys)
|
rs190940697
|
0.00113
|
NM_015102.5(NPHP4):c.945G>A (p.Thr315=)
|
rs115272639
|
0.00113
|
NM_153240.5(NPHP3):c.3664T>C (p.Leu1222=)
|
rs142616619
|
0.00107
|
NM_015102.5(NPHP4):c.3232-12C>T
|
rs370840400
|
0.00101
|
NM_153240.5(NPHP3):c.3663C>T (p.Ala1221=)
|
rs112144165
|
0.00099
|
NM_032575.3(GLIS2):c.477G>A (p.Ser159=)
|
rs148123444
|
0.00096
|
NM_001128178.3(NPHP1):c.1269+9G>A
|
rs13414551
|
0.00089
|
NM_153240.5(NPHP3):c.105G>A (p.Lys35=)
|
rs377060857
|
0.00085
|
NM_015102.5(NPHP4):c.2820G>A (p.Ala940=)
|
rs35575973
|
0.00078
|
NM_015102.5(NPHP4):c.3843G>T (p.Leu1281=)
|
rs9662691
|
0.00076
|
NM_015102.5(NPHP4):c.2257G>A (p.Asp753Asn)
|
rs148424288
|
0.00074
|
NM_014425.5(INVS):c.1704G>A (p.Gly568=)
|
rs114645869
|
0.00073
|
NM_014425.5(INVS):c.2775C>T (p.Arg925=)
|
rs146360442
|
0.00071
|
NM_015102.5(NPHP4):c.4141-11C>T
|
rs139203183
|
0.00066
|
NM_153240.5(NPHP3):c.2769C>T (p.Phe923=)
|
rs116174472
|
0.00066
|
NM_015102.5(NPHP4):c.1482G>A (p.Gln494=)
|
rs199557439
|
0.00064
|
NM_015102.5(NPHP4):c.2557G>T (p.Asp853Tyr)
|
rs199875059
|
0.00064
|
NM_032575.3(GLIS2):c.1105G>A (p.Gly369Ser)
|
rs200720013
|
0.00056
|
NM_015102.5(NPHP4):c.1966G>A (p.Asp656Asn)
|
rs191602135
|
0.00050
|
NM_032575.3(GLIS2):c.1350G>A (p.Ser450=)
|
rs150464446
|
0.00046
|
NM_001023570.4(IQCB1):c.877-11C>T
|
rs192296154
|
0.00045
|
NM_015102.5(NPHP4):c.3045-5C>T
|
rs2297790
|
0.00038
|
NM_001128178.3(NPHP1):c.836C>T (p.Thr279Met)
|
rs200201945
|
0.00033
|
NM_015102.5(NPHP4):c.944C>T (p.Thr315Met)
|
rs200684272
|
0.00033
|
NM_001023570.4(IQCB1):c.987-17C>T
|
rs187649158
|
0.00029
|
NM_015102.5(NPHP4):c.138C>T (p.Gly46=)
|
rs201069164
|
0.00028
|
NM_015102.5(NPHP4):c.3705C>T (p.Arg1235=)
|
rs199925943
|
0.00028
|
NM_015102.5(NPHP4):c.1089G>T (p.Val363=)
|
rs201464887
|
0.00026
|
NM_015102.5(NPHP4):c.1632C>T (p.Ala544=)
|
rs201903713
|
0.00025
|
NM_153240.5(NPHP3):c.1629-17C>A
|
rs145056102
|
0.00024
|
NM_015102.5(NPHP4):c.3145C>T (p.Pro1049Ser)
|
rs759609852
|
0.00022
|
NM_015102.5(NPHP4):c.1196A>G (p.Glu399Gly)
|
rs117898549
|
0.00020
|
NM_015102.5(NPHP4):c.1120-13G>T
|
rs192450719
|
0.00019
|
NM_015102.5(NPHP4):c.3044+20C>T
|
rs372051668
|
0.00019
|
NM_015102.5(NPHP4):c.2445G>A (p.Ser815=)
|
rs764367617
|
0.00017
|
NM_015102.5(NPHP4):c.3777G>A (p.Arg1259=)
|
rs369566680
|
0.00016
|
NM_015102.5(NPHP4):c.3817-20C>T
|
rs573999865
|
0.00016
|
NM_001023570.4(IQCB1):c.1311A>G (p.Lys437=)
|
rs142536967
|
0.00015
|
NM_001023570.4(IQCB1):c.588-5A>G
|
rs370451583
|
0.00015
|
NM_153240.5(NPHP3):c.3126-8T>G
|
rs201592109
|
0.00015
|
NM_015102.5(NPHP4):c.902C>T (p.Pro301Leu)
|
rs527701970
|
0.00014
|
NM_001128178.3(NPHP1):c.1270-18A>G
|
rs534210307
|
0.00011
|
NM_015102.5(NPHP4):c.122C>T (p.Pro41Leu)
|
rs754311690
|
0.00011
|
NM_153240.5(NPHP3):c.2132A>G (p.Asn711Ser)
|
rs117872197
|
0.00011
|
NM_015102.5(NPHP4):c.2807C>T (p.Thr936Met)
|
rs201074950
|
0.00008
|
NM_014425.5(INVS):c.1374C>A (p.Thr458=)
|
rs114912725
|
0.00007
|
NM_001023570.4(IQCB1):c.1509C>G (p.Ala503=)
|
rs149259534
|
0.00006
|
NM_015102.5(NPHP4):c.1490C>G (p.Pro497Arg)
|
rs375051705
|
0.00006
|
NM_032575.3(GLIS2):c.849C>T (p.His283=)
|
rs200829928
|
0.00006
|
NM_015102.5(NPHP4):c.1120-9T>A
|
rs570380438
|
0.00004
|
NM_015102.5(NPHP4):c.1764-5C>T
|
rs370899989
|
0.00004
|
NM_153240.5(NPHP3):c.1083T>C (p.Ser361=)
|
rs781244729
|
0.00004
|
NM_014425.5(INVS):c.2604C>T (p.Ser868=)
|
rs751765105
|
0.00003
|
NM_153240.5(NPHP3):c.1357C>T (p.Leu453=)
|
rs535110862
|
0.00002
|
NM_153240.5(NPHP3):c.3813-10T>C
|
rs372263313
|
0.00002
|
NM_001023570.4(IQCB1):c.776G>A (p.Arg259His)
|
rs374034270
|
0.00001
|
NM_001128178.3(NPHP1):c.294C>T (p.Gly98=)
|
rs747950591
|
0.00001
|
NM_001128178.3(NPHP1):c.438T>C (p.Asn146=)
|
rs548684868
|
0.00001
|
NM_001128178.3(NPHP1):c.859+5T>C
|
rs374379957
|
0.00001
|
NM_014425.5(INVS):c.1980A>G (p.Gly660=)
|
rs139314036
|
0.00001
|
NM_014425.5(INVS):c.3027C>T (p.His1009=)
|
rs201136636
|
0.00001
|
NM_015102.5(NPHP4):c.3645-15C>T
|
rs558429618
|
0.00001
|
NC_000002.11:g.(?_110849180)_(110962545_?)dup
|
|
|
NC_000002.11:g.(?_110879913)_(110963639_?)dup
|
|
|
NC_000002.11:g.(?_110881368)_(110937261_?)dup
|
|
|
NM_000272.3(NPHP1):c.(?_-1)_(*1_?)dup
|
|
|
NM_000272.3(NPHP1):c.625-3dup
|
rs200118387
|
|
NM_001023570.4(IQCB1):c.1279-8del
|
rs758519096
|
|
NM_001023570.4(IQCB1):c.1568-19del
|
rs148949254
|
|
NM_001023570.4(IQCB1):c.394-15_394-10dup
|
rs768572151
|
|
NM_001023570.4(IQCB1):c.488-13del
|
rs753164790
|
|
NM_001023570.4(IQCB1):c.488-13dup
|
rs753164790
|
|
NM_001023570.4(IQCB1):c.588-16del
|
rs574290389
|
|
NM_001023570.4(IQCB1):c.588-25dup
|
rs574290389
|
|
NM_001023570.4(IQCB1):c.775C>T (p.Arg259Cys)
|
rs778777181
|
|
NM_001023570.4(IQCB1):c.986+9del
|
|
|
NM_001128178.3(NPHP1):c.144-11del
|
|
|
NM_001128178.3(NPHP1):c.144-11dup
|
rs762119782
|
|
NM_001128178.3(NPHP1):c.1530-13dup
|
|
|
NM_001128178.3(NPHP1):c.729-11dup
|
|
|
NM_014425.5(INVS):c.2069-18_2069-16del
|
rs577372332
|
|
NM_014425.5(INVS):c.2582G>C (p.Arg861Thr)
|
rs760537423
|
|
NM_014425.5(INVS):c.2719C>A (p.Arg907=)
|
rs267607185
|
|
NM_014425.5(INVS):c.273+13del
|
|
|
NM_014425.5(INVS):c.2786+14del
|
|
|
NM_014425.5(INVS):c.3182dup (p.Asn1061fs)
|
rs760013326
|
|
NM_014425.5(INVS):c.448-10G>A
|
|
|
NM_015102.5(NPHP4):c.136-4del
|
rs143323188
|
|
NM_015102.5(NPHP4):c.1503+17dup
|
rs756154468
|
|
NM_015102.5(NPHP4):c.3144C>G (p.Ala1048=)
|
rs540738356
|
|
NM_015102.5(NPHP4):c.3997-12del
|
rs1325812736
|
|
NM_015102.5(NPHP4):c.4140+11dup
|
rs779059295
|
|
NM_032575.3(GLIS2):c.173-16T>C
|
|
|
NM_032575.3(GLIS2):c.523-20A>T
|
|
|
NM_032575.3(GLIS2):c.657-17C>T
|
|
|
NM_153240.5(NPHP3):c.1118+16del
|
rs560151715
|
|
NM_153240.5(NPHP3):c.1118+16dup
|
rs560151715
|
|
NM_153240.5(NPHP3):c.1276-7del
|
rs2107987665
|
|
NM_153240.5(NPHP3):c.1525-13dup
|
rs762115717
|
|
NM_153240.5(NPHP3):c.2884-16dup
|
rs2107967791
|
|
NM_153240.5(NPHP3):c.3125+7dup
|
rs11396595
|
|
NM_153240.5(NPHP3):c.3126-4del
|
rs398124547
|
|
NM_153240.5(NPHP3):c.3571-3dup
|
|
|
NM_153240.5(NPHP3):c.3697-14dup
|
rs564013823
|
|
NM_153240.5(NPHP3):c.3697-7del
|
rs564013823
|
|
NM_153240.5(NPHP3):c.3813-12del
|
rs2107960657
|
|
Single allele
|
|
|