NM_153240.5(NPHP3):c.3759G>A (p.Leu1253=)
|
rs6794496
|
0.13621
|
NM_153240.5(NPHP3):c.2610G>A (p.Pro870=)
|
rs16839515
|
0.04323
|
NM_153240.5(NPHP3):c.2571-7T>C
|
rs62292468
|
0.02974
|
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_153240.5(NPHP3):c.1986G>A (p.Arg662=)
|
rs77533254
|
0.01496
|
NM_153240.5(NPHP3):c.450G>A (p.Ala150=)
|
rs78527322
|
0.00906
|
NM_153240.5(NPHP3):c.3550G>A (p.Ala1184Thr)
|
rs34391943
|
0.00744
|
NM_153240.5(NPHP3):c.3941G>C (p.Ser1314Thr)
|
rs75316802
|
0.00658
|
NM_153240.5(NPHP3):c.1887+6G>A
|
rs79113972
|
0.00654
|
NM_153240.5(NPHP3):c.3252A>G (p.Thr1084=)
|
rs11915053
|
0.00629
|
NM_153240.5(NPHP3):c.2089-9C>T
|
rs141397228
|
0.00404
|
NM_153240.5(NPHP3):c.520-10C>G
|
rs200144727
|
0.00362
|
NM_153240.5(NPHP3):c.1189C>T (p.Arg397Cys)
|
rs141477666
|
0.00334
|
NM_153240.5(NPHP3):c.2693+17A>G
|
rs200046908
|
0.00212
|
NM_153240.5(NPHP3):c.1157A>G (p.Asn386Ser)
|
rs142021049
|
0.00211
|
NM_153240.5(NPHP3):c.3221G>A (p.Arg1074His)
|
rs144781228
|
0.00154
|
NM_153240.5(NPHP3):c.449C>T (p.Ala150Val)
|
rs142663818
|
0.00142
|
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.3971T>C (p.Phe1324Ser)
|
rs113364886
|
0.00121
|
NM_153240.5(NPHP3):c.3093A>G (p.Glu1031=)
|
rs112300370
|
0.00120
|
NM_153240.5(NPHP3):c.3664T>C (p.Leu1222=)
|
rs142616619
|
0.00107
|
NM_153240.5(NPHP3):c.3663C>T (p.Ala1221=)
|
rs112144165
|
0.00099
|
NM_153240.5(NPHP3):c.2442T>C (p.Tyr814=)
|
rs111683745
|
0.00068
|
NM_153240.5(NPHP3):c.2769C>T (p.Phe923=)
|
rs116174472
|
0.00066
|
NM_153240.5(NPHP3):c.3756C>G (p.Ser1252Arg)
|
rs143451766
|
0.00065
|
NM_153240.5(NPHP3):c.3281G>A (p.Arg1094Gln)
|
rs146890274
|
0.00054
|
NM_153240.5(NPHP3):c.393+18C>T
|
rs367765709
|
0.00042
|
NM_153240.5(NPHP3):c.3717G>A (p.Leu1239=)
|
rs146759786
|
0.00040
|
NM_153240.5(NPHP3):c.2881C>G (p.Gln961Glu)
|
rs144989330
|
0.00036
|
NM_153240.5(NPHP3):c.2884-4C>G
|
rs185913426
|
0.00034
|
NM_153240.5(NPHP3):c.3500G>A (p.Arg1167His)
|
rs111727307
|
0.00033
|
NM_153240.5(NPHP3):c.1082C>G (p.Ser361Cys)
|
rs146250226
|
0.00026
|
NM_153240.5(NPHP3):c.1172C>G (p.Pro391Arg)
|
rs138982161
|
0.00026
|
NM_153240.5(NPHP3):c.2694-2_2694-1del
|
rs751527253
|
0.00026
|
NM_153240.5(NPHP3):c.408G>A (p.Thr136=)
|
rs141410951
|
0.00026
|
NM_153240.5(NPHP3):c.1629-17C>A
|
rs145056102
|
0.00024
|
NM_153240.5(NPHP3):c.2172-4A>G
|
rs375032661
|
0.00020
|
NM_153240.5(NPHP3):c.3336T>C (p.Ala1112=)
|
rs188431787
|
0.00020
|
NM_153240.5(NPHP3):c.2688T>C (p.Tyr896=)
|
rs150489788
|
0.00019
|
NM_153240.5(NPHP3):c.3812+16A>G
|
rs376029054
|
0.00019
|
NM_153240.5(NPHP3):c.944A>T (p.Asp315Val)
|
rs149565564
|
0.00017
|
NM_153240.5(NPHP3):c.3990G>A (p.Arg1330=)
|
rs147332157
|
0.00016
|
NM_153240.5(NPHP3):c.3126-8T>G
|
rs201592109
|
0.00015
|
NM_153240.5(NPHP3):c.621A>G (p.Val207=)
|
rs139693694
|
0.00015
|
NM_153240.5(NPHP3):c.670+6T>C
|
rs190074663
|
0.00015
|
NM_153240.5(NPHP3):c.1183T>G (p.Phe395Val)
|
rs764000635
|
0.00014
|
NM_153240.5(NPHP3):c.1813C>T (p.Arg605Cys)
|
rs144731534
|
0.00014
|
NM_153240.5(NPHP3):c.3504A>G (p.Ala1168=)
|
rs371505908
|
0.00014
|
NM_153240.5(NPHP3):c.1930G>A (p.Val644Met)
|
rs1238689431
|
0.00013
|
NM_153240.5(NPHP3):c.2395T>C (p.Leu799=)
|
rs201015677
|
0.00013
|
NM_153240.5(NPHP3):c.3570+4A>G
|
rs374989123
|
0.00013
|
NM_153240.5(NPHP3):c.2883+16C>T
|
rs376492280
|
0.00012
|
NM_153240.5(NPHP3):c.2132A>G (p.Asn711Ser)
|
rs117872197
|
0.00011
|
NM_153240.5(NPHP3):c.3662C>T (p.Ala1221Val)
|
rs202048210
|
0.00011
|
NM_153240.5(NPHP3):c.1744-12C>G
|
rs367785168
|
0.00010
|
NM_153240.5(NPHP3):c.2104C>T (p.Arg702Ter)
|
rs267606916
|
0.00010
|
NM_153240.5(NPHP3):c.2155G>A (p.Gly719Ser)
|
rs369022568
|
0.00010
|
NM_153240.5(NPHP3):c.2497G>C (p.Glu833Gln)
|
rs142084136
|
0.00010
|
NM_153240.5(NPHP3):c.981A>C (p.Arg327Ser)
|
rs562721694
|
0.00010
|
NM_153240.5(NPHP3):c.2931A>G (p.Leu977=)
|
rs146316936
|
0.00009
|
NM_153240.5(NPHP3):c.3763C>T (p.Arg1255Trp)
|
rs146054765
|
0.00009
|
NM_153240.5(NPHP3):c.3896G>A (p.Gly1299Asp)
|
rs190548695
|
0.00009
|
NM_153240.5(NPHP3):c.1891G>A (p.Val631Ile)
|
rs765722959
|
0.00008
|
NM_153240.5(NPHP3):c.2884-5C>T
|
rs764010022
|
0.00008
|
NM_153240.5(NPHP3):c.3592C>T (p.Pro1198Ser)
|
rs550670844
|
0.00008
|
NM_153240.5(NPHP3):c.703G>A (p.Gly235Arg)
|
rs368570508
|
0.00008
|
NM_153240.5(NPHP3):c.818A>G (p.Asn273Ser)
|
rs538520481
|
0.00008
|
NM_153240.5(NPHP3):c.1533A>T (p.Gln511His)
|
rs368126549
|
0.00007
|
NM_153240.5(NPHP3):c.2986G>A (p.Val996Met)
|
rs150867534
|
0.00007
|
NM_153240.5(NPHP3):c.3330-19T>C
|
rs372840443
|
0.00007
|
NM_153240.5(NPHP3):c.957+16A>C
|
rs368705884
|
0.00007
|
NM_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.1887+17del
|
rs772091214
|
0.00006
|
NM_153240.5(NPHP3):c.1976C>T (p.Pro659Leu)
|
rs147836124
|
0.00006
|
NM_153240.5(NPHP3):c.2166C>T (p.Ile722=)
|
rs368406864
|
0.00006
|
NM_153240.5(NPHP3):c.2172-12C>T
|
rs886038736
|
0.00006
|
NM_153240.5(NPHP3):c.2232T>C (p.Thr744=)
|
rs767339363
|
0.00006
|
NM_153240.5(NPHP3):c.2266C>T (p.Arg756Trp)
|
rs183049702
|
0.00006
|
NM_153240.5(NPHP3):c.3032C>T (p.Ala1011Val)
|
rs202145723
|
0.00006
|
NM_153240.5(NPHP3):c.3062C>T (p.Ala1021Val)
|
rs759153335
|
0.00006
|
NM_153240.5(NPHP3):c.332C>T (p.Ser111Phe)
|
rs200233813
|
0.00006
|
NM_153240.5(NPHP3):c.3570+17A>G
|
rs377589434
|
0.00006
|
NM_153240.5(NPHP3):c.393G>C (p.Gln131His)
|
rs757835884
|
0.00006
|
NM_153240.5(NPHP3):c.548T>C (p.Ile183Thr)
|
rs563850993
|
0.00006
|
NM_153240.5(NPHP3):c.958-2A>G
|
rs780148543
|
0.00006
|
NM_153240.5(NPHP3):c.2342G>A (p.Gly781Asp)
|
rs781180515
|
0.00005
|
NM_153240.5(NPHP3):c.2418A>G (p.Leu806=)
|
rs1025642403
|
0.00005
|
NM_153240.5(NPHP3):c.3126-4T>A
|
rs746873186
|
0.00005
|
NM_153240.5(NPHP3):c.3270T>G (p.Pro1090=)
|
rs139351534
|
0.00005
|
NM_153240.5(NPHP3):c.3722T>C (p.Leu1241Ser)
|
rs756330976
|
0.00005
|
NM_153240.5(NPHP3):c.894C>T (p.Asn298=)
|
rs988823074
|
0.00005
|
NM_153240.5(NPHP3):c.1028T>C (p.Ile343Thr)
|
rs145715402
|
0.00004
|
NM_153240.5(NPHP3):c.1032T>A (p.Asp344Glu)
|
rs778210113
|
0.00004
|
NM_153240.5(NPHP3):c.1083T>C (p.Ser361=)
|
rs781244729
|
0.00004
|
NM_153240.5(NPHP3):c.1424A>G (p.Asp475Gly)
|
rs773520877
|
0.00004
|
NM_153240.5(NPHP3):c.1476A>T (p.Glu492Asp)
|
rs371254114
|
0.00004
|
NM_153240.5(NPHP3):c.1655C>G (p.Pro552Arg)
|
rs375776149
|
0.00004
|
NM_153240.5(NPHP3):c.1928C>T (p.Pro643Leu)
|
rs760831781
|
0.00004
|
NM_153240.5(NPHP3):c.2169G>A (p.Ala723=)
|
rs563403703
|
0.00004
|
NM_153240.5(NPHP3):c.2423A>C (p.Lys808Thr)
|
rs763361711
|
0.00004
|
NM_153240.5(NPHP3):c.2770G>A (p.Asp924Asn)
|
rs141073933
|
0.00004
|
NM_153240.5(NPHP3):c.2817G>A (p.Met939Ile)
|
rs760355143
|
0.00004
|
NM_153240.5(NPHP3):c.2851C>T (p.Arg951Ter)
|
rs148670389
|
0.00004
|
NM_153240.5(NPHP3):c.3399C>T (p.Asp1133=)
|
rs766231228
|
0.00004
|
NM_153240.5(NPHP3):c.3601G>A (p.Glu1201Lys)
|
rs529119466
|
0.00004
|
NM_153240.5(NPHP3):c.3609T>C (p.Ala1203=)
|
rs747847543
|
0.00004
|
NM_153240.5(NPHP3):c.394-18C>G
|
rs886038737
|
0.00004
|
NM_153240.5(NPHP3):c.500A>C (p.Lys167Thr)
|
rs771832737
|
0.00004
|
NM_153240.5(NPHP3):c.1027A>G (p.Ile343Val)
|
rs372145755
|
0.00003
|
NM_153240.5(NPHP3):c.1119-12T>C
|
rs753569204
|
0.00003
|
NM_153240.5(NPHP3):c.1629-19T>G
|
rs1176486903
|
0.00003
|
NM_153240.5(NPHP3):c.1744-7C>G
|
rs758273843
|
0.00003
|
NM_153240.5(NPHP3):c.1817G>A (p.Trp606Ter)
|
rs182135982
|
0.00003
|
NM_153240.5(NPHP3):c.1903A>G (p.Met635Val)
|
rs145166784
|
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.3009T>C (p.Asn1003=)
|
rs372990521
|
0.00003
|
NM_153240.5(NPHP3):c.3063G>A (p.Ala1021=)
|
rs769832219
|
0.00003
|
NM_153240.5(NPHP3):c.3299G>C (p.Gly1100Ala)
|
rs758927671
|
0.00003
|
NM_153240.5(NPHP3):c.3339C>A (p.Asp1113Glu)
|
rs768124745
|
0.00003
|
NM_153240.5(NPHP3):c.3401G>C (p.Cys1134Ser)
|
rs762890381
|
0.00003
|
NM_153240.5(NPHP3):c.3649A>C (p.Ser1217Arg)
|
rs540287231
|
0.00003
|
NM_153240.5(NPHP3):c.3901A>C (p.Lys1301Gln)
|
rs769027723
|
0.00003
|
NM_153240.5(NPHP3):c.1141G>A (p.Glu381Lys)
|
rs748615630
|
0.00002
|
NM_153240.5(NPHP3):c.1308A>G (p.Gly436=)
|
rs777911324
|
0.00002
|
NM_153240.5(NPHP3):c.1357C>T (p.Leu453=)
|
rs535110862
|
0.00002
|
NM_153240.5(NPHP3):c.1381G>T (p.Glu461Ter)
|
rs119456961
|
0.00002
|
NM_153240.5(NPHP3):c.1579C>T (p.Leu527Phe)
|
rs772703797
|
0.00002
|
NM_153240.5(NPHP3):c.1714T>G (p.Ser572Ala)
|
rs781274734
|
0.00002
|
NM_153240.5(NPHP3):c.1743+6G>A
|
rs761386522
|
0.00002
|
NM_153240.5(NPHP3):c.1986-7A>G
|
rs373733344
|
0.00002
|
NM_153240.5(NPHP3):c.2041A>G (p.Ile681Val)
|
rs1218293876
|
0.00002
|
NM_153240.5(NPHP3):c.2109C>G (p.His703Gln)
|
rs765177103
|
0.00002
|
NM_153240.5(NPHP3):c.2112T>C (p.Cys704=)
|
rs761833505
|
0.00002
|
NM_153240.5(NPHP3):c.2167G>A (p.Ala723Thr)
|
rs770302939
|
0.00002
|
NM_153240.5(NPHP3):c.2171+8G>A
|
rs147825615
|
0.00002
|
NM_153240.5(NPHP3):c.2190T>C (p.Asn730=)
|
rs780587933
|
0.00002
|
NM_153240.5(NPHP3):c.2369T>C (p.Leu790Pro)
|
rs398124546
|
0.00002
|
NM_153240.5(NPHP3):c.2475+3A>G
|
rs201981598
|
0.00002
|
NM_153240.5(NPHP3):c.2563C>T (p.Gln855Ter)
|
rs201237799
|
0.00002
|
NM_153240.5(NPHP3):c.2570+1G>T
|
rs1322038132
|
0.00002
|
NM_153240.5(NPHP3):c.2752A>G (p.Met918Val)
|
rs140594430
|
0.00002
|
NM_153240.5(NPHP3):c.2810A>G (p.Asp937Gly)
|
rs1231984938
|
0.00002
|
NM_153240.5(NPHP3):c.2985C>T (p.Tyr995=)
|
rs777768843
|
0.00002
|
NM_153240.5(NPHP3):c.3039A>C (p.Glu1013Asp)
|
rs941727035
|
0.00002
|
NM_153240.5(NPHP3):c.308T>C (p.Val103Ala)
|
rs764479243
|
0.00002
|
NM_153240.5(NPHP3):c.3205G>A (p.Gly1069Arg)
|
rs752118322
|
0.00002
|
NM_153240.5(NPHP3):c.3212C>T (p.Ala1071Val)
|
rs374241338
|
0.00002
|
NM_153240.5(NPHP3):c.3311A>G (p.Tyr1104Cys)
|
rs571618016
|
0.00002
|
NM_153240.5(NPHP3):c.3374G>A (p.Arg1125Gln)
|
rs767752387
|
0.00002
|
NM_153240.5(NPHP3):c.3429T>G (p.Ala1143=)
|
rs772904943
|
0.00002
|
NM_153240.5(NPHP3):c.3521C>T (p.Pro1174Leu)
|
rs1411458250
|
0.00002
|
NM_153240.5(NPHP3):c.3775C>T (p.Arg1259Ter)
|
rs758716466
|
0.00002
|
NM_153240.5(NPHP3):c.3813-10T>C
|
rs372263313
|
0.00002
|
NM_153240.5(NPHP3):c.384C>G (p.Ala128=)
|
rs201425936
|
0.00002
|
NM_153240.5(NPHP3):c.3898G>A (p.Gly1300Arg)
|
rs774681590
|
0.00002
|
NM_153240.5(NPHP3):c.3907C>T (p.Pro1303Ser)
|
rs373728120
|
0.00002
|
NM_153240.5(NPHP3):c.393+1G>C
|
rs754332448
|
0.00002
|
NM_153240.5(NPHP3):c.469del (p.Arg157fs)
|
rs773760404
|
0.00002
|
NM_153240.5(NPHP3):c.671-18A>G
|
rs776019324
|
0.00002
|
NM_153240.5(NPHP3):c.722C>G (p.Pro241Arg)
|
rs142933414
|
0.00002
|
NM_153240.5(NPHP3):c.978G>A (p.Lys326=)
|
rs759490137
|
0.00002
|
NM_153240.5(NPHP3):c.1091T>C (p.Ile364Thr)
|
rs1186561814
|
0.00001
|
NM_153240.5(NPHP3):c.1118+7T>C
|
rs755103165
|
0.00001
|
NM_153240.5(NPHP3):c.1174C>T (p.Arg392Ter)
|
rs1485445500
|
0.00001
|
NM_153240.5(NPHP3):c.1190G>A (p.Arg397His)
|
rs755094682
|
0.00001
|
NM_153240.5(NPHP3):c.1245T>G (p.Val415=)
|
rs772276779
|
0.00001
|
NM_153240.5(NPHP3):c.1288T>G (p.Ser430Ala)
|
rs151118635
|
0.00001
|
NM_153240.5(NPHP3):c.1294G>A (p.Asp432Asn)
|
rs947907684
|
0.00001
|
NM_153240.5(NPHP3):c.1311A>G (p.Val437=)
|
rs1393593329
|
0.00001
|
NM_153240.5(NPHP3):c.1351-6G>A
|
rs758073939
|
0.00001
|
NM_153240.5(NPHP3):c.1396G>A (p.Gly466Ser)
|
rs1241694746
|
0.00001
|
NM_153240.5(NPHP3):c.1399A>G (p.Ser467Gly)
|
rs751944855
|
0.00001
|
NM_153240.5(NPHP3):c.1404G>A (p.Glu468=)
|
rs770200607
|
0.00001
|
NM_153240.5(NPHP3):c.1411A>G (p.Ile471Val)
|
rs200659972
|
0.00001
|
NM_153240.5(NPHP3):c.1425T>C (p.Asp475=)
|
rs369725128
|
0.00001
|
NM_153240.5(NPHP3):c.1513G>A (p.Gly505Arg)
|
rs375225209
|
0.00001
|
NM_153240.5(NPHP3):c.1514G>A (p.Gly505Glu)
|
rs368008794
|
0.00001
|
NM_153240.5(NPHP3):c.1521G>A (p.Glu507=)
|
rs762044969
|
0.00001
|
NM_153240.5(NPHP3):c.1537C>T (p.Leu513Phe)
|
rs1250547107
|
0.00001
|
NM_153240.5(NPHP3):c.1581C>T (p.Leu527=)
|
rs183241346
|
0.00001
|
NM_153240.5(NPHP3):c.1618T>C (p.Leu540=)
|
rs1346281529
|
0.00001
|
NM_153240.5(NPHP3):c.1620A>G (p.Leu540=)
|
rs772704156
|
0.00001
|
NM_153240.5(NPHP3):c.1629-17_1629-13del
|
rs1197764455
|
0.00001
|
NM_153240.5(NPHP3):c.1654C>A (p.Pro552Thr)
|
rs776287337
|
0.00001
|
NM_153240.5(NPHP3):c.1658A>G (p.Asn553Ser)
|
rs373846495
|
0.00001
|
NM_153240.5(NPHP3):c.1690C>T (p.Pro564Ser)
|
rs749602646
|
0.00001
|
NM_153240.5(NPHP3):c.1692C>T (p.Pro564=)
|
rs1448083146
|
0.00001
|
NM_153240.5(NPHP3):c.1712C>T (p.Ser571Phe)
|
rs748309289
|
0.00001
|
NM_153240.5(NPHP3):c.1729C>T (p.Arg577Ter)
|
rs119456962
|
0.00001
|
NM_153240.5(NPHP3):c.1738C>G (p.Leu580Val)
|
rs1399616263
|
0.00001
|
NM_153240.5(NPHP3):c.1747A>T (p.Met583Leu)
|
rs1397511848
|
0.00001
|
NM_153240.5(NPHP3):c.1757C>G (p.Ser586Cys)
|
rs1939564898
|
0.00001
|
NM_153240.5(NPHP3):c.1791T>C (p.Ala597=)
|
rs1269919387
|
0.00001
|
NM_153240.5(NPHP3):c.1841A>G (p.His614Arg)
|
rs1346771272
|
0.00001
|
NM_153240.5(NPHP3):c.1857C>G (p.Ile619Met)
|
rs780013712
|
0.00001
|
NM_153240.5(NPHP3):c.1871C>T (p.Ser624Phe)
|
rs1939561839
|
0.00001
|
NM_153240.5(NPHP3):c.1911G>A (p.Trp637Ter)
|
rs919854764
|
0.00001
|
NM_153240.5(NPHP3):c.1920T>G (p.Asp640Glu)
|
rs869312915
|
0.00001
|
NM_153240.5(NPHP3):c.1975C>T (p.Pro659Ser)
|
rs1007912862
|
0.00001
|
NM_153240.5(NPHP3):c.1986-10T>C
|
rs1449961171
|
0.00001
|
NM_153240.5(NPHP3):c.1986-20T>G
|
rs372668523
|
0.00001
|
NM_153240.5(NPHP3):c.1986-8C>T
|
rs780778474
|
0.00001
|
NM_153240.5(NPHP3):c.2008G>C (p.Asp670His)
|
rs372339999
|
0.00001
|
NM_153240.5(NPHP3):c.2060C>T (p.Ser687Phe)
|
rs1017195284
|
0.00001
|
NM_153240.5(NPHP3):c.2088+14A>T
|
rs773344647
|
0.00001
|
NM_153240.5(NPHP3):c.2109C>T (p.His703=)
|
rs765177103
|
0.00001
|
NM_153240.5(NPHP3):c.2114G>A (p.Arg705His)
|
rs139548649
|
0.00001
|
NM_153240.5(NPHP3):c.2154C>T (p.Phe718=)
|
rs558637226
|
0.00001
|
NM_153240.5(NPHP3):c.2171+1G>A
|
rs1280230808
|
0.00001
|
NM_153240.5(NPHP3):c.2172-19C>A
|
rs759217005
|
0.00001
|
NM_153240.5(NPHP3):c.2222G>A (p.Cys741Tyr)
|
rs1451958461
|
0.00001
|
NM_153240.5(NPHP3):c.2259C>T (p.His753=)
|
rs765940696
|
0.00001
|
NM_153240.5(NPHP3):c.2263A>C (p.Ile755Leu)
|
rs772613405
|
0.00001
|
NM_153240.5(NPHP3):c.2269G>C (p.Glu757Gln)
|
rs776113044
|
0.00001
|
NM_153240.5(NPHP3):c.2302A>T (p.Met768Leu)
|
rs777858346
|
0.00001
|
NM_153240.5(NPHP3):c.2310+20T>C
|
rs767427222
|
0.00001
|
NM_153240.5(NPHP3):c.2311-1G>C
|
rs1363032805
|
0.00001
|
NM_153240.5(NPHP3):c.2346G>A (p.Val782=)
|
rs200418725
|
0.00001
|
NM_153240.5(NPHP3):c.2516C>G (p.Thr839Ser)
|
rs1268939572
|
0.00001
|
NM_153240.5(NPHP3):c.2560T>C (p.Leu854=)
|
rs758928870
|
0.00001
|
NM_153240.5(NPHP3):c.2571-12C>G
|
rs886058003
|
0.00001
|
NM_153240.5(NPHP3):c.2658T>C (p.Leu886=)
|
rs773079895
|
0.00001
|
NM_153240.5(NPHP3):c.2666T>C (p.Leu889Pro)
|
rs747876996
|
0.00001
|
NM_153240.5(NPHP3):c.2694-2A>T
|
rs1395411307
|
0.00001
|
NM_153240.5(NPHP3):c.2731G>A (p.Val911Ile)
|
rs370506189
|
0.00001
|
NM_153240.5(NPHP3):c.2805C>T (p.Gly935=)
|
rs1281725083
|
0.00001
|
NM_153240.5(NPHP3):c.2883+5G>A
|
rs948593540
|
0.00001
|
NM_153240.5(NPHP3):c.2883+8C>G
|
rs373257282
|
0.00001
|
NM_153240.5(NPHP3):c.2884-8C>T
|
rs757300023
|
0.00001
|
NM_153240.5(NPHP3):c.2894C>T (p.Pro965Leu)
|
rs368791854
|
0.00001
|
NM_153240.5(NPHP3):c.2905T>A (p.Ser969Thr)
|
rs762539833
|
0.00001
|
NM_153240.5(NPHP3):c.2934T>A (p.Asp978Glu)
|
rs141960792
|
0.00001
|
NM_153240.5(NPHP3):c.2937C>T (p.Pro979=)
|
rs774962213
|
0.00001
|
NM_153240.5(NPHP3):c.2948G>A (p.Arg983Lys)
|
rs909410608
|
0.00001
|
NM_153240.5(NPHP3):c.2981T>A (p.Val994Glu)
|
rs564239365
|
0.00001
|
NM_153240.5(NPHP3):c.3036G>A (p.Leu1012=)
|
rs1036061016
|
0.00001
|
NM_153240.5(NPHP3):c.3037G>C (p.Glu1013Gln)
|
rs762836818
|
0.00001
|
NM_153240.5(NPHP3):c.306C>T (p.Arg102=)
|
rs762134618
|
0.00001
|
NM_153240.5(NPHP3):c.3111C>G (p.Tyr1037Ter)
|
rs1007848349
|
0.00001
|
NM_153240.5(NPHP3):c.3135A>G (p.Gln1045=)
|
rs745568685
|
0.00001
|
NM_153240.5(NPHP3):c.3143A>G (p.His1048Arg)
|
rs934058701
|
0.00001
|
NM_153240.5(NPHP3):c.3226C>T (p.Arg1076Trp)
|
rs553665584
|
0.00001
|
NM_153240.5(NPHP3):c.3237G>C (p.Gln1079His)
|
rs764287266
|
0.00001
|
NM_153240.5(NPHP3):c.323A>C (p.Glu108Ala)
|
rs371290162
|
0.00001
|
NM_153240.5(NPHP3):c.3280C>T (p.Arg1094Trp)
|
rs759495075
|
0.00001
|
NM_153240.5(NPHP3):c.3290A>G (p.Asn1097Ser)
|
rs1157229330
|
0.00001
|
NM_153240.5(NPHP3):c.3304C>G (p.Leu1102Val)
|
rs779376432
|
0.00001
|
NM_153240.5(NPHP3):c.3306C>G (p.Leu1102=)
|
rs757542289
|
0.00001
|
NM_153240.5(NPHP3):c.3318A>G (p.Gln1106=)
|
rs1161730457
|
0.00001
|
NM_153240.5(NPHP3):c.334A>G (p.Met112Val)
|
rs1465252607
|
0.00001
|
NM_153240.5(NPHP3):c.3352C>T (p.Arg1118Cys)
|
rs757710406
|
0.00001
|
NM_153240.5(NPHP3):c.3353G>A (p.Arg1118His)
|
rs749623594
|
0.00001
|
NM_153240.5(NPHP3):c.3373C>T (p.Arg1125Ter)
|
rs368138001
|
0.00001
|
NM_153240.5(NPHP3):c.3393C>T (p.His1131=)
|
rs1416876931
|
0.00001
|
NM_153240.5(NPHP3):c.3422T>C (p.Leu1141Pro)
|
rs1057521090
|
0.00001
|
NM_153240.5(NPHP3):c.3432A>G (p.Leu1144=)
|
rs764978219
|
0.00001
|
NM_153240.5(NPHP3):c.3433T>C (p.Cys1145Arg)
|
rs200287294
|
0.00001
|
NM_153240.5(NPHP3):c.346G>A (p.Glu116Lys)
|
rs1188632308
|
0.00001
|
NM_153240.5(NPHP3):c.3480A>G (p.Arg1160=)
|
rs1393705320
|
0.00001
|
NM_153240.5(NPHP3):c.3493C>T (p.Arg1165Trp)
|
rs1330141890
|
0.00001
|
NM_153240.5(NPHP3):c.3494G>A (p.Arg1165Gln)
|
rs138630766
|
0.00001
|
NM_153240.5(NPHP3):c.3499C>T (p.Arg1167Cys)
|
rs201135796
|
0.00001
|
NM_153240.5(NPHP3):c.3507A>T (p.Leu1169Phe)
|
rs1468602074
|
0.00001
|
NM_153240.5(NPHP3):c.3532T>C (p.Tyr1178His)
|
rs113637009
|
0.00001
|
NM_153240.5(NPHP3):c.3537G>A (p.Thr1179=)
|
rs761585621
|
0.00001
|
NM_153240.5(NPHP3):c.3540G>A (p.Val1180=)
|
rs1939108951
|
0.00001
|
NM_153240.5(NPHP3):c.354G>A (p.Lys118=)
|
rs769508776
|
0.00001
|
NM_153240.5(NPHP3):c.3563A>G (p.Lys1188Arg)
|
rs772079066
|
0.00001
|
NM_153240.5(NPHP3):c.3680T>C (p.Val1227Ala)
|
rs1464247795
|
0.00001
|
NM_153240.5(NPHP3):c.3696+20C>T
|
rs773940041
|
0.00001
|
NM_153240.5(NPHP3):c.3697-7T>A
|
rs777908405
|
0.00001
|
NM_153240.5(NPHP3):c.3705C>T (p.His1235=)
|
rs753143081
|
0.00001
|
NM_153240.5(NPHP3):c.3706G>A (p.Val1236Ile)
|
rs985289177
|
0.00001
|
NM_153240.5(NPHP3):c.3805G>A (p.Val1269Met)
|
rs150019603
|
0.00001
|
NM_153240.5(NPHP3):c.3816T>C (p.Tyr1272=)
|
rs777264064
|
0.00001
|
NM_153240.5(NPHP3):c.3866A>C (p.Glu1289Ala)
|
rs759336230
|
0.00001
|
NM_153240.5(NPHP3):c.3875A>C (p.Glu1292Ala)
|
rs766281273
|
0.00001
|
NM_153240.5(NPHP3):c.3912A>G (p.Ser1304=)
|
rs114049311
|
0.00001
|
NM_153240.5(NPHP3):c.3914G>A (p.Arg1305His)
|
rs781537576
|
0.00001
|
NM_153240.5(NPHP3):c.424C>T (p.Arg142Ter)
|
rs771742823
|
0.00001
|
NM_153240.5(NPHP3):c.428A>T (p.Glu143Val)
|
rs1576688460
|
0.00001
|
NM_153240.5(NPHP3):c.430A>G (p.Lys144Glu)
|
rs745342273
|
0.00001
|
NM_153240.5(NPHP3):c.520-12T>C
|
rs763909286
|
0.00001
|
NM_153240.5(NPHP3):c.589C>T (p.Leu197Phe)
|
rs111707939
|
0.00001
|
NM_153240.5(NPHP3):c.600A>G (p.Leu200=)
|
rs749309370
|
0.00001
|
NM_153240.5(NPHP3):c.653A>G (p.Asn218Ser)
|
rs199956251
|
0.00001
|
NM_153240.5(NPHP3):c.657T>C (p.Cys219=)
|
rs200533815
|
0.00001
|
NM_153240.5(NPHP3):c.671-14C>A
|
rs370887292
|
0.00001
|
NM_153240.5(NPHP3):c.684A>G (p.Gln228=)
|
rs1369748544
|
0.00001
|
NM_153240.5(NPHP3):c.686G>A (p.Cys229Tyr)
|
rs1424177439
|
0.00001
|
NM_153240.5(NPHP3):c.707C>G (p.Ala236Gly)
|
rs1488359125
|
0.00001
|
NM_153240.5(NPHP3):c.767C>T (p.Pro256Leu)
|
rs374171796
|
0.00001
|
NM_153240.5(NPHP3):c.783T>G (p.Ser261Arg)
|
rs752050701
|
0.00001
|
NM_153240.5(NPHP3):c.800G>C (p.Gly267Ala)
|
rs1467512285
|
0.00001
|
NM_153240.5(NPHP3):c.801A>T (p.Gly267=)
|
rs763333048
|
0.00001
|
NM_153240.5(NPHP3):c.823+20A>G
|
rs898519948
|
0.00001
|
NM_153240.5(NPHP3):c.856C>G (p.Gln286Glu)
|
rs775337662
|
0.00001
|
NM_153240.5(NPHP3):c.876A>G (p.Ser292=)
|
rs777368543
|
0.00001
|
NM_153240.5(NPHP3):c.896C>T (p.Thr299Ile)
|
rs1940015669
|
0.00001
|
NM_153240.5(NPHP3):c.903A>G (p.Arg301=)
|
rs375395871
|
0.00001
|
NM_153240.5(NPHP3):c.921A>G (p.Thr307=)
|
rs368874413
|
0.00001
|
NM_153240.5(NPHP3):c.958G>T (p.Asp320Tyr)
|
rs75288730
|
0.00001
|
NM_153240.5(NPHP3):c.987C>T (p.Cys329=)
|
rs138124482
|
0.00001
|
NM_153240.5(NPHP3):c.988G>A (p.Glu330Lys)
|
rs758498695
|
0.00001
|
NM_153240.5(NPHP3):c.1009C>T (p.His337Tyr)
|
rs769409934
|
|
NM_153240.5(NPHP3):c.1026A>G (p.Pro342=)
|
|
|
NM_153240.5(NPHP3):c.1038A>G (p.Glu346=)
|
rs756382033
|
|
NM_153240.5(NPHP3):c.1040dup (p.Asn347fs)
|
rs2107996325
|
|
NM_153240.5(NPHP3):c.1044A>G (p.Gln348=)
|
rs1560014152
|
|
NM_153240.5(NPHP3):c.1068A>G (p.Glu356=)
|
rs1215885580
|
|
NM_153240.5(NPHP3):c.1087_1090del (p.Val363fs)
|
rs1576682880
|
|
NM_153240.5(NPHP3):c.1094_1098del (p.Leu365fs)
|
|
|
NM_153240.5(NPHP3):c.1118+11A>C
|
rs751629184
|
|
NM_153240.5(NPHP3):c.1118+16del
|
rs560151715
|
|
NM_153240.5(NPHP3):c.1118+16dup
|
rs560151715
|
|
NM_153240.5(NPHP3):c.1118+17T>C
|
rs766373582
|
|
NM_153240.5(NPHP3):c.1118+18G>A
|
rs2107996221
|
|
NM_153240.5(NPHP3):c.1118+8del
|
|
|
NM_153240.5(NPHP3):c.1118G>A (p.Ser373Asn)
|
rs1939959019
|
|
NM_153240.5(NPHP3):c.1119-18T>C
|
|
|
NM_153240.5(NPHP3):c.1119-6A>T
|
rs372374369
|
|
NM_153240.5(NPHP3):c.1119C>A (p.Ser373Arg)
|
|
|
NM_153240.5(NPHP3):c.1119C>G (p.Ser373Arg)
|
|
|
NM_153240.5(NPHP3):c.1124T>A (p.Leu375Ter)
|
|
|
NM_153240.5(NPHP3):c.1129G>C (p.Glu377Gln)
|
rs2107990706
|
|
NM_153240.5(NPHP3):c.1132G>T (p.Asp378Tyr)
|
rs1939810316
|
|
NM_153240.5(NPHP3):c.1139A>T (p.Glu380Val)
|
|
|
NM_153240.5(NPHP3):c.1164del (p.Gly389fs)
|
rs2107990671
|
|
NM_153240.5(NPHP3):c.1167A>G (p.Gly389=)
|
|
|
NM_153240.5(NPHP3):c.1179A>T (p.Leu393Phe)
|
|
|
NM_153240.5(NPHP3):c.1181T>A (p.Ile394Asn)
|
rs753749299
|
|
NM_153240.5(NPHP3):c.1211G>T (p.Ser404Ile)
|
rs765850571
|
|
NM_153240.5(NPHP3):c.1221T>C (p.Ser407=)
|
|
|
NM_153240.5(NPHP3):c.1230A>G (p.Gln410=)
|
|
|
NM_153240.5(NPHP3):c.1243G>T (p.Val415Phe)
|
|
|
NM_153240.5(NPHP3):c.1275+10A>G
|
|
|
NM_153240.5(NPHP3):c.1275+12del
|
rs2107990515
|
|
NM_153240.5(NPHP3):c.1275+14G>T
|
|
|
NM_153240.5(NPHP3):c.1276-7del
|
rs2107987665
|
|
NM_153240.5(NPHP3):c.1288T>C (p.Ser430Pro)
|
rs151118635
|
|
NM_153240.5(NPHP3):c.1289C>G (p.Ser430Ter)
|
|
|
NM_153240.5(NPHP3):c.1290A>G (p.Ser430=)
|
|
|
NM_153240.5(NPHP3):c.1304_1306del (p.Glu435del)
|
rs1456714047
|
|
NM_153240.5(NPHP3):c.1319C>T (p.Thr440Ile)
|
|
|
NM_153240.5(NPHP3):c.1322A>G (p.Tyr441Cys)
|
rs1939731078
|
|
NM_153240.5(NPHP3):c.1330G>A (p.Val444Ile)
|
rs921931732
|
|
NM_153240.5(NPHP3):c.1337A>C (p.Lys446Thr)
|
|
|
NM_153240.5(NPHP3):c.1350+10C>A
|
|
|
NM_153240.5(NPHP3):c.1350+11A>G
|
rs1159005602
|
|
NM_153240.5(NPHP3):c.1350+5A>G
|
rs1422460034
|
|
NM_153240.5(NPHP3):c.1351-11T>C
|
rs2107986017
|
|
NM_153240.5(NPHP3):c.1351-15G>A
|
rs2107986026
|
|
NM_153240.5(NPHP3):c.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.1420G>C (p.Glu474Gln)
|
rs1939691135
|
|
NM_153240.5(NPHP3):c.1422A>T (p.Glu474Asp)
|
rs2107985912
|
|
NM_153240.5(NPHP3):c.1429T>C (p.Phe477Leu)
|
|
|
NM_153240.5(NPHP3):c.1441C>T (p.Leu481=)
|
|
|
NM_153240.5(NPHP3):c.1452A>G (p.Ile484Met)
|
rs771804922
|
|
NM_153240.5(NPHP3):c.1457A>G (p.Asp486Gly)
|
rs1553773832
|
|
NM_153240.5(NPHP3):c.1470A>G (p.Gln490=)
|
rs2107985821
|
|
NM_153240.5(NPHP3):c.1476A>C (p.Glu492Asp)
|
rs371254114
|
|
NM_153240.5(NPHP3):c.1477A>G (p.Thr493Ala)
|
|
|
NM_153240.5(NPHP3):c.1487A>G (p.Gln496Arg)
|
rs1939688689
|
|
NM_153240.5(NPHP3):c.14C>T (p.Ser5Leu)
|
|
|
NM_153240.5(NPHP3):c.1514G>C (p.Gly505Ala)
|
rs368008794
|
|
NM_153240.5(NPHP3):c.1515A>G (p.Gly505=)
|
rs1411856886
|
|
NM_153240.5(NPHP3):c.1524+7G>T
|
rs760682707
|
|
NM_153240.5(NPHP3):c.1525-12T>G
|
|
|
NM_153240.5(NPHP3):c.1525-13dup
|
rs762115717
|
|
NM_153240.5(NPHP3):c.1525-20A>G
|
|
|
NM_153240.5(NPHP3):c.1525-2A>G
|
|
|
NM_153240.5(NPHP3):c.1525-5del
|
rs762115717
|
|
NM_153240.5(NPHP3):c.1525T>C (p.Tyr509His)
|
rs1939605927
|
|
NM_153240.5(NPHP3):c.1526A>G (p.Tyr509Cys)
|
|
|
NM_153240.5(NPHP3):c.1531C>T (p.Gln511Ter)
|
|
|
NM_153240.5(NPHP3):c.1533A>G (p.Gln511=)
|
rs368126549
|
|
NM_153240.5(NPHP3):c.1534C>T (p.Arg512Cys)
|
|
|
NM_153240.5(NPHP3):c.1535G>A (p.Arg512His)
|
|
|
NM_153240.5(NPHP3):c.1541A>G (p.Asn514Ser)
|
rs1032053554
|
|
NM_153240.5(NPHP3):c.1548A>G (p.Leu516=)
|
rs1453032510
|
|
NM_153240.5(NPHP3):c.1566G>A (p.Pro522=)
|
|
|
NM_153240.5(NPHP3):c.1571C>T (p.Pro524Leu)
|
rs1309124422
|
|
NM_153240.5(NPHP3):c.15G>A (p.Ser5=)
|
rs2108008379
|
|
NM_153240.5(NPHP3):c.1608G>A (p.Lys536=)
|
rs200647158
|
|
NM_153240.5(NPHP3):c.1628+19A>C
|
|
|
NM_153240.5(NPHP3):c.1628+2T>A
|
rs1277862520
|
|
NM_153240.5(NPHP3):c.1628+9C>A
|
rs1199591337
|
|
NM_153240.5(NPHP3):c.1628+9C>T
|
|
|
NM_153240.5(NPHP3):c.1649A>G (p.Asn550Ser)
|
|
|
NM_153240.5(NPHP3):c.1663C>T (p.Leu555=)
|
|
|
NM_153240.5(NPHP3):c.1675del (p.His559fs)
|
|
|
NM_153240.5(NPHP3):c.1689G>A (p.Arg563=)
|
|
|
NM_153240.5(NPHP3):c.16T>C (p.Ser6Pro)
|
|
|
NM_153240.5(NPHP3):c.1706C>G (p.Ser569Ter)
|
|
|
NM_153240.5(NPHP3):c.1707A>G (p.Ser569=)
|
|
|
NM_153240.5(NPHP3):c.1714T>C (p.Ser572Pro)
|
rs781274734
|
|
NM_153240.5(NPHP3):c.1716C>G (p.Ser572=)
|
rs1060504844
|
|
NM_153240.5(NPHP3):c.1725T>G (p.Ile575Met)
|
|
|
NM_153240.5(NPHP3):c.1732C>G (p.Leu578Val)
|
rs1939573837
|
|
NM_153240.5(NPHP3):c.1736C>T (p.Thr579Ile)
|
|
|
NM_153240.5(NPHP3):c.1743+17T>G
|
rs2107981287
|
|
NM_153240.5(NPHP3):c.1743+19T>C
|
|
|
NM_153240.5(NPHP3):c.1743+3A>G
|
rs750181541
|
|
NM_153240.5(NPHP3):c.1744-4G>T
|
rs750318426
|
|
NM_153240.5(NPHP3):c.1744-8T>C
|
|
|
NM_153240.5(NPHP3):c.1748T>C (p.Met583Thr)
|
|
|
NM_153240.5(NPHP3):c.1751A>G (p.Gln584Arg)
|
rs1939565151
|
|
NM_153240.5(NPHP3):c.1752G>A (p.Gln584=)
|
rs1409547506
|
|
NM_153240.5(NPHP3):c.1765G>A (p.Val589Ile)
|
rs753592193
|
|
NM_153240.5(NPHP3):c.1777A>G (p.Thr593Ala)
|
rs373627362
|
|
NM_153240.5(NPHP3):c.1779A>G (p.Thr593=)
|
|
|
NM_153240.5(NPHP3):c.1794G>C (p.Lys598Asn)
|
|
|
NM_153240.5(NPHP3):c.1814G>A (p.Arg605His)
|
rs763388690
|
|
NM_153240.5(NPHP3):c.1817G>T (p.Trp606Leu)
|
|
|
NM_153240.5(NPHP3):c.1832_1833del (p.Ser611fs)
|
rs780165789
|
|
NM_153240.5(NPHP3):c.1838G>A (p.Arg613His)
|
|
|
NM_153240.5(NPHP3):c.1853T>C (p.Ile618Thr)
|
rs139730838
|
|
NM_153240.5(NPHP3):c.1861G>A (p.Val621Ile)
|
|
|
NM_153240.5(NPHP3):c.1887+10T>A
|
|
|
NM_153240.5(NPHP3):c.1887+11C>A
|
|
|
NM_153240.5(NPHP3):c.1887+5C>T
|
rs1939561378
|
|
NM_153240.5(NPHP3):c.1913T>C (p.Leu638Pro)
|
rs2107980092
|
|
NM_153240.5(NPHP3):c.1923A>G (p.Pro641=)
|
|
|
NM_153240.5(NPHP3):c.1936G>T (p.Val646Leu)
|
rs1362469132
|
|
NM_153240.5(NPHP3):c.1945A>C (p.Ile649Leu)
|
rs1213749947
|
|
NM_153240.5(NPHP3):c.1976del (p.Pro659fs)
|
rs1939543636
|
|
NM_153240.5(NPHP3):c.1985+18G>A
|
rs754296173
|
|
NM_153240.5(NPHP3):c.1985+1G>A
|
rs1553773271
|
|
NM_153240.5(NPHP3):c.1985+5G>A
|
rs754508002
|
|
NM_153240.5(NPHP3):c.1986G>C (p.Arg662Ser)
|
rs77533254
|
|
NM_153240.5(NPHP3):c.1989G>A (p.Leu663=)
|
rs1939482136
|
|
NM_153240.5(NPHP3):c.1989G>T (p.Leu663Phe)
|
rs1939482136
|
|
NM_153240.5(NPHP3):c.1dup (p.Met1fs)
|
rs2108008416
|
|
NM_153240.5(NPHP3):c.2035T>G (p.Ser679Ala)
|
rs767716649
|
|
NM_153240.5(NPHP3):c.2040del (p.Ile680_Ile681insTer)
|
rs757578685
|
|
NM_153240.5(NPHP3):c.2052A>G (p.Glu684=)
|
|
|
NM_153240.5(NPHP3):c.2074T>C (p.Leu692=)
|
rs1939479118
|
|
NM_153240.5(NPHP3):c.2085G>C (p.Glu695Asp)
|
rs553166708
|
|
NM_153240.5(NPHP3):c.2089-4G>T
|
|
|
NM_153240.5(NPHP3):c.2089-8T>C
|
|
|
NM_153240.5(NPHP3):c.2098C>T (p.Leu700=)
|
|
|
NM_153240.5(NPHP3):c.2099T>G (p.Leu700Arg)
|
rs1939465838
|
|
NM_153240.5(NPHP3):c.2105G>A (p.Arg702Gln)
|
rs889394540
|
|
NM_153240.5(NPHP3):c.2111_2112del (p.Cys704fs)
|
rs2107976854
|
|
NM_153240.5(NPHP3):c.2113C>G (p.Arg705Gly)
|
rs776393897
|
|
NM_153240.5(NPHP3):c.2119G>A (p.Ala707Thr)
|
|
|
NM_153240.5(NPHP3):c.2122A>G (p.Thr708Ala)
|
|
|
NM_153240.5(NPHP3):c.2141A>T (p.Tyr714Phe)
|
|
|
NM_153240.5(NPHP3):c.2157C>G (p.Gly719=)
|
rs1939463263
|
|
NM_153240.5(NPHP3):c.2161A>G (p.Met721Val)
|
|
|
NM_153240.5(NPHP3):c.2171+10G>A
|
|
|
NM_153240.5(NPHP3):c.2171+4A>G
|
rs2107976702
|
|
NM_153240.5(NPHP3):c.2171G>A (p.Arg724His)
|
rs1064797063
|
|
NM_153240.5(NPHP3):c.2172-11G>A
|
|
|
NM_153240.5(NPHP3):c.2172-2A>C
|
|
|
NM_153240.5(NPHP3):c.2172-2A>G
|
rs547310372
|
|
NM_153240.5(NPHP3):c.2183C>G (p.Ala728Gly)
|
rs2107974706
|
|
NM_153240.5(NPHP3):c.2186G>A (p.Gly729Asp)
|
|
|
NM_153240.5(NPHP3):c.2193A>G (p.Leu731=)
|
rs2107974699
|
|
NM_153240.5(NPHP3):c.21C>G (p.Leu7=)
|
|
|
NM_153240.5(NPHP3):c.2201T>G (p.Ile734Ser)
|
|
|
NM_153240.5(NPHP3):c.2218C>T (p.Gln740Ter)
|
|
|
NM_153240.5(NPHP3):c.2220G>C (p.Gln740His)
|
rs148515364
|
|
NM_153240.5(NPHP3):c.2233C>G (p.Leu745Val)
|
|
|
NM_153240.5(NPHP3):c.2238A>G (p.Ser746=)
|
rs2107974643
|
|
NM_153240.5(NPHP3):c.2263A>G (p.Ile755Val)
|
rs772613405
|
|
NM_153240.5(NPHP3):c.22G>T (p.Val8Leu)
|
|
|
NM_153240.5(NPHP3):c.2310+10A>G
|
rs1939404058
|
|
NM_153240.5(NPHP3):c.2310+17T>A
|
|
|
NM_153240.5(NPHP3):c.2311-12T>G
|
rs1939334269
|
|
NM_153240.5(NPHP3):c.2311-13T>G
|
|
|
NM_153240.5(NPHP3):c.2311-14G>A
|
|
|
NM_153240.5(NPHP3):c.2311-6A>C
|
rs769918347
|
|
NM_153240.5(NPHP3):c.2311-6A>G
|
rs769918347
|
|
NM_153240.5(NPHP3):c.2311-9T>C
|
|
|
NM_153240.5(NPHP3):c.2320C>T (p.Leu774Phe)
|
|
|
NM_153240.5(NPHP3):c.2361G>C (p.Leu787=)
|
|
|
NM_153240.5(NPHP3):c.2387G>A (p.Trp796Ter)
|
rs2107971687
|
|
NM_153240.5(NPHP3):c.2389A>G (p.Thr797Ala)
|
rs1215241671
|
|
NM_153240.5(NPHP3):c.2394C>T (p.Phe798=)
|
rs534190640
|
|
NM_153240.5(NPHP3):c.2397G>C (p.Leu799Phe)
|
rs1060503157
|
|
NM_153240.5(NPHP3):c.2431T>C (p.Leu811=)
|
rs2107971631
|
|
NM_153240.5(NPHP3):c.2433G>A (p.Leu811=)
|
rs1277600730
|
|
NM_153240.5(NPHP3):c.2433G>C (p.Leu811Phe)
|
rs1277600730
|
|
NM_153240.5(NPHP3):c.2437A>T (p.Thr813Ser)
|
rs2107971625
|
|
NM_153240.5(NPHP3):c.2439T>A (p.Thr813=)
|
rs2107971620
|
|
NM_153240.5(NPHP3):c.2447G>A (p.Cys816Tyr)
|
rs1939330730
|
|
NM_153240.5(NPHP3):c.2470C>G (p.Leu824Val)
|
|
|
NM_153240.5(NPHP3):c.2471T>A (p.Leu824Gln)
|
|
|
NM_153240.5(NPHP3):c.2475+19T>A
|
|
|
NM_153240.5(NPHP3):c.2476-14C>T
|
|
|
NM_153240.5(NPHP3):c.2479T>G (p.Trp827Gly)
|
|
|
NM_153240.5(NPHP3):c.2487A>C (p.Thr829=)
|
rs866796047
|
|
NM_153240.5(NPHP3):c.2512C>G (p.Pro838Ala)
|
|
|
NM_153240.5(NPHP3):c.2518G>A (p.Val840Ile)
|
rs138865996
|
|
NM_153240.5(NPHP3):c.2541G>T (p.Lys847Asn)
|
|
|
NM_153240.5(NPHP3):c.2545A>G (p.Ile849Val)
|
rs1939290522
|
|
NM_153240.5(NPHP3):c.2546T>C (p.Ile849Thr)
|
rs1939290471
|
|
NM_153240.5(NPHP3):c.2562G>A (p.Leu854=)
|
|
|
NM_153240.5(NPHP3):c.2564A>G (p.Gln855Arg)
|
|
|
NM_153240.5(NPHP3):c.2570+10A>G
|
rs1576665035
|
|
NM_153240.5(NPHP3):c.2570+18G>A
|
|
|
NM_153240.5(NPHP3):c.2571-14C>G
|
|
|
NM_153240.5(NPHP3):c.2577C>T (p.Asp859=)
|
|
|
NM_153240.5(NPHP3):c.2582T>C (p.Val861Ala)
|
|
|
NM_153240.5(NPHP3):c.2610G>T (p.Pro870=)
|
|
|
NM_153240.5(NPHP3):c.2667C>A (p.Leu889=)
|
|
|
NM_153240.5(NPHP3):c.2675C>T (p.Ser892Phe)
|
|
|
NM_153240.5(NPHP3):c.2692A>C (p.Arg898=)
|
|
|
NM_153240.5(NPHP3):c.2702_2703del (p.Phe901fs)
|
|
|
NM_153240.5(NPHP3):c.2721T>C (p.Tyr907=)
|
rs1486007292
|
|
NM_153240.5(NPHP3):c.2749G>A (p.Ala917Thr)
|
|
|
NM_153240.5(NPHP3):c.2756C>T (p.Ala919Val)
|
rs2107968077
|
|
NM_153240.5(NPHP3):c.2760A>G (p.Thr920=)
|
rs2107968069
|
|
NM_153240.5(NPHP3):c.2783A>G (p.Gln928Arg)
|
rs751790371
|
|
NM_153240.5(NPHP3):c.2799C>T (p.Cys933=)
|
|
|
NM_153240.5(NPHP3):c.2800G>A (p.Glu934Lys)
|
|
|
NM_153240.5(NPHP3):c.2808G>A (p.Glu936=)
|
|
|
NM_153240.5(NPHP3):c.2813A>C (p.Asn938Thr)
|
rs1939236897
|
|
NM_153240.5(NPHP3):c.2823C>T (p.Cys941=)
|
|
|
NM_153240.5(NPHP3):c.2840A>G (p.Glu947Gly)
|
|
|
NM_153240.5(NPHP3):c.2857C>G (p.Leu953Val)
|
|
|
NM_153240.5(NPHP3):c.2868A>G (p.Leu956=)
|
|
|
NM_153240.5(NPHP3):c.2871C>T (p.Gly957=)
|
rs2107967950
|
|
NM_153240.5(NPHP3):c.2879G>A (p.Ser960Asn)
|
rs1939235108
|
|
NM_153240.5(NPHP3):c.2880_2883del (p.Ser960fs)
|
rs1939234862
|
|
NM_153240.5(NPHP3):c.2884-16dup
|
rs2107967791
|
|
NM_153240.5(NPHP3):c.2884-4C>A
|
rs185913426
|
|
NM_153240.5(NPHP3):c.2884-6C>T
|
|
|
NM_153240.5(NPHP3):c.2884-8C>A
|
rs757300023
|
|
NM_153240.5(NPHP3):c.2884-9T>C
|
|
|
NM_153240.5(NPHP3):c.2884G>A (p.Ala962Thr)
|
|
|
NM_153240.5(NPHP3):c.2889A>G (p.Ile963Met)
|
rs2107967753
|
|
NM_153240.5(NPHP3):c.2902A>G (p.Arg968Gly)
|
|
|
NM_153240.5(NPHP3):c.2909T>C (p.Leu970Ser)
|
rs2107967729
|
|
NM_153240.5(NPHP3):c.2913G>T (p.Glu971Asp)
|
|
|
NM_153240.5(NPHP3):c.2926G>A (p.Ala976Thr)
|
|
|
NM_153240.5(NPHP3):c.2928T>G (p.Ala976=)
|
rs2107967702
|
|
NM_153240.5(NPHP3):c.2936C>T (p.Pro979Leu)
|
rs903849432
|
|
NM_153240.5(NPHP3):c.293A>G (p.Tyr98Cys)
|
rs1553775714
|
|
NM_153240.5(NPHP3):c.293A>T (p.Tyr98Phe)
|
rs1553775714
|
|
NM_153240.5(NPHP3):c.2950G>A (p.Val984Ile)
|
|
|
NM_153240.5(NPHP3):c.2956dup (p.Gln986fs)
|
rs1560002147
|
|
NM_153240.5(NPHP3):c.2970A>G (p.Gln990=)
|
rs2107967635
|
|
NM_153240.5(NPHP3):c.2985C>G (p.Tyr995Ter)
|
rs777768843
|
|
NM_153240.5(NPHP3):c.2995A>C (p.Lys999Gln)
|
rs559425353
|
|
NM_153240.5(NPHP3):c.2995A>G (p.Lys999Glu)
|
rs559425353
|
|
NM_153240.5(NPHP3):c.3003del (p.Phe1001fs)
|
rs1560002113
|
|
NM_153240.5(NPHP3):c.3008A>G (p.Asn1003Ser)
|
|
|
NM_153240.5(NPHP3):c.3023A>G (p.Tyr1008Cys)
|
rs2107967560
|
|
NM_153240.5(NPHP3):c.3027A>G (p.Lys1009=)
|
|
|
NM_153240.5(NPHP3):c.3033G>A (p.Ala1011=)
|
|
|
NM_153240.5(NPHP3):c.3040A>T (p.Ile1014Phe)
|
rs1939224766
|
|
NM_153240.5(NPHP3):c.3048A>G (p.Glu1016=)
|
rs1170253406
|
|
NM_153240.5(NPHP3):c.3059G>A (p.Gly1020Asp)
|
rs146097715
|
|
NM_153240.5(NPHP3):c.3059G>C (p.Gly1020Ala)
|
rs146097715
|
|
NM_153240.5(NPHP3):c.307G>A (p.Val103Ile)
|
rs567070832
|
|
NM_153240.5(NPHP3):c.3083G>A (p.Arg1028His)
|
rs200722938
|
|
NM_153240.5(NPHP3):c.3088C>G (p.Leu1030Val)
|
|
|
NM_153240.5(NPHP3):c.30del (p.Ala11fs)
|
rs1311592052
|
|
NM_153240.5(NPHP3):c.3118C>T (p.Gln1040Ter)
|
|
|
NM_153240.5(NPHP3):c.3125+15A>G
|
|
|
NM_153240.5(NPHP3):c.3125+19G>A
|
rs2107967402
|
|
NM_153240.5(NPHP3):c.3125+7dup
|
rs11396595
|
|
NM_153240.5(NPHP3):c.3126-13A>T
|
|
|
NM_153240.5(NPHP3):c.3126-17T>C
|
rs186041429
|
|
NM_153240.5(NPHP3):c.3126-17T>G
|
rs186041429
|
|
NM_153240.5(NPHP3):c.3126-3A>C
|
rs1939185158
|
|
NM_153240.5(NPHP3):c.3126-4del
|
rs398124547
|
|
NM_153240.5(NPHP3):c.3126-6T>G
|
rs1405952605
|
|
NM_153240.5(NPHP3):c.3126-7T>G
|
rs1262764918
|
|
NM_153240.5(NPHP3):c.3128A>G (p.Tyr1043Cys)
|
|
|
NM_153240.5(NPHP3):c.3128A>T (p.Tyr1043Phe)
|
rs368696653
|
|
NM_153240.5(NPHP3):c.3129T>A (p.Tyr1043Ter)
|
rs758238787
|
|
NM_153240.5(NPHP3):c.3134A>G (p.Gln1045Arg)
|
|
|
NM_153240.5(NPHP3):c.3137C>G (p.Ala1046Gly)
|
rs756790389
|
|
NM_153240.5(NPHP3):c.3139G>C (p.Glu1047Gln)
|
rs1306519589
|
|
NM_153240.5(NPHP3):c.3156dup (p.Ser1053fs)
|
rs771215577
|
|
NM_153240.5(NPHP3):c.3172C>A (p.Gln1058Lys)
|
|
|
NM_153240.5(NPHP3):c.3180T>G (p.Ala1060=)
|
rs2107965871
|
|
NM_153240.5(NPHP3):c.3181A>G (p.Ile1061Val)
|
|
|
NM_153240.5(NPHP3):c.3201+11A>G
|
rs1423098134
|
|
NM_153240.5(NPHP3):c.3201+2T>G
|
|
|
NM_153240.5(NPHP3):c.3201+6G>A
|
|
|
NM_153240.5(NPHP3):c.3202-3C>G
|
rs748849731
|
|
NM_153240.5(NPHP3):c.3204C>T (p.Tyr1068=)
|
|
|
NM_153240.5(NPHP3):c.3213C>T (p.Ala1071=)
|
|
|
NM_153240.5(NPHP3):c.3220C>T (p.Arg1074Cys)
|
rs750800732
|
|
NM_153240.5(NPHP3):c.3229G>A (p.Ala1077Thr)
|
rs753978185
|
|
NM_153240.5(NPHP3):c.3255_3256dup (p.Gly1086fs)
|
|
|
NM_153240.5(NPHP3):c.326TGT[1] (p.Leu110del)
|
rs753616848
|
|
NM_153240.5(NPHP3):c.3279T>G (p.Ala1093=)
|
|
|
NM_153240.5(NPHP3):c.328T>C (p.Leu110=)
|
|
|
NM_153240.5(NPHP3):c.328T>G (p.Leu110Val)
|
rs369995775
|
|
NM_153240.5(NPHP3):c.3296T>G (p.Leu1099Arg)
|
|
|
NM_153240.5(NPHP3):c.3297G>A (p.Leu1099=)
|
rs1560000891
|
|
NM_153240.5(NPHP3):c.329T>C (p.Leu110Ser)
|
|
|
NM_153240.5(NPHP3):c.3309C>G (p.Tyr1103Ter)
|
rs1560000875
|
|
NM_153240.5(NPHP3):c.3318A>C (p.Gln1106His)
|
rs1161730457
|
|
NM_153240.5(NPHP3):c.3321T>C (p.Asn1107=)
|
rs1576661719
|
|
NM_153240.5(NPHP3):c.3326T>G (p.Leu1109Arg)
|
rs369704665
|
|
NM_153240.5(NPHP3):c.3330-18T>C
|
rs1476177804
|
|
NM_153240.5(NPHP3):c.3364A>G (p.Met1122Val)
|
rs2107963463
|
|
NM_153240.5(NPHP3):c.3374G>C (p.Arg1125Pro)
|
rs767752387
|
|
NM_153240.5(NPHP3):c.3386C>A (p.Pro1129Gln)
|
rs1939112649
|
|
NM_153240.5(NPHP3):c.339C>G (p.Gly113=)
|
|
|
NM_153240.5(NPHP3):c.3402_3403del (p.Ala1135fs)
|
rs746849675
|
|
NM_153240.5(NPHP3):c.340C>T (p.Arg114Cys)
|
|
|
NM_153240.5(NPHP3):c.3439G>T (p.Glu1147Ter)
|
rs2107963367
|
|
NM_153240.5(NPHP3):c.3444G>A (p.Lys1148=)
|
|
|
NM_153240.5(NPHP3):c.3447_3449dup (p.Gln1150dup)
|
rs779803619
|
|
NM_153240.5(NPHP3):c.3448C>G (p.Gln1150Glu)
|
|
|
NM_153240.5(NPHP3):c.347A>G (p.Glu116Gly)
|
rs2108007537
|
|
NM_153240.5(NPHP3):c.3515A>G (p.Asp1172Gly)
|
rs2107963298
|
|
NM_153240.5(NPHP3):c.3517C>T (p.His1173Tyr)
|
rs2107963292
|
|
NM_153240.5(NPHP3):c.3531A>G (p.Ala1177=)
|
|
|
NM_153240.5(NPHP3):c.353A>G (p.Lys118Arg)
|
|
|
NM_153240.5(NPHP3):c.3551C>T (p.Ala1184Val)
|
|
|
NM_153240.5(NPHP3):c.3558G>T (p.Leu1186Phe)
|
|
|
NM_153240.5(NPHP3):c.3560A>G (p.Tyr1187Cys)
|
|
|
NM_153240.5(NPHP3):c.3560A>T (p.Tyr1187Phe)
|
rs774889708
|
|
NM_153240.5(NPHP3):c.3570+18T>C
|
rs2107963185
|
|
NM_153240.5(NPHP3):c.3571-10del
|
|
|
NM_153240.5(NPHP3):c.3571-10dup
|
|
|
NM_153240.5(NPHP3):c.3571-11_3571-10del
|
|
|
NM_153240.5(NPHP3):c.3571-14C>T
|
|
|
NM_153240.5(NPHP3):c.3571-15A>T
|
|
|
NM_153240.5(NPHP3):c.3571-3T>C
|
|
|
NM_153240.5(NPHP3):c.3571-3dup
|
|
|
NM_153240.5(NPHP3):c.3571-7T>G
|
|
|
NM_153240.5(NPHP3):c.3576del (p.Lys1192fs)
|
|
|
NM_153240.5(NPHP3):c.3578T>C (p.Leu1193Pro)
|
|
|
NM_153240.5(NPHP3):c.3584A>G (p.Lys1195Arg)
|
rs902755372
|
|
NM_153240.5(NPHP3):c.3589G>A (p.Val1197Ile)
|
rs1400005418
|
|
NM_153240.5(NPHP3):c.3597G>C (p.Leu1199Phe)
|
|
|
NM_153240.5(NPHP3):c.359A>T (p.Asp120Val)
|
|
|
NM_153240.5(NPHP3):c.3604T>C (p.Leu1202=)
|
|
|
NM_153240.5(NPHP3):c.3607G>A (p.Ala1203Thr)
|
|
|
NM_153240.5(NPHP3):c.3612T>A (p.Val1204=)
|
|
|
NM_153240.5(NPHP3):c.362C>G (p.Thr121Arg)
|
rs1940240950
|
|
NM_153240.5(NPHP3):c.3635G>T (p.Gly1212Val)
|
|
|
NM_153240.5(NPHP3):c.3642G>A (p.Lys1214=)
|
|
|
NM_153240.5(NPHP3):c.3656C>G (p.Ala1219Gly)
|
|
|
NM_153240.5(NPHP3):c.3676G>A (p.Ala1226Thr)
|
rs2107962025
|
|
NM_153240.5(NPHP3):c.367A>T (p.Asn123Tyr)
|
|
|
NM_153240.5(NPHP3):c.3696+12T>A
|
|
|
NM_153240.5(NPHP3):c.3696+14T>G
|
|
|
NM_153240.5(NPHP3):c.3696_3696+3del
|
|
|
NM_153240.5(NPHP3):c.3697-11T>C
|
|
|
NM_153240.5(NPHP3):c.3697-11_3697-7del
|
rs564013823
|
|
NM_153240.5(NPHP3):c.3697-13T>G
|
rs1939067140
|
|
NM_153240.5(NPHP3):c.3697-14dup
|
rs564013823
|
|
NM_153240.5(NPHP3):c.3697-16C>A
|
rs2107961469
|
|
NM_153240.5(NPHP3):c.3697-16_3697-14del
|
|
|
NM_153240.5(NPHP3):c.3697-3A>G
|
rs2107961442
|
|
NM_153240.5(NPHP3):c.3697-7T>G
|
rs777908405
|
|
NM_153240.5(NPHP3):c.3697-7del
|
rs564013823
|
|
NM_153240.5(NPHP3):c.3697-9T>G
|
rs1939067062
|
|
NM_153240.5(NPHP3):c.3698A>G (p.Lys1233Arg)
|
rs2107961440
|
|
NM_153240.5(NPHP3):c.3707_3709del (p.Val1236del)
|
|
|
NM_153240.5(NPHP3):c.3726T>A (p.Tyr1242Ter)
|
|
|
NM_153240.5(NPHP3):c.3734C>A (p.Ala1245Glu)
|
rs1939065629
|
|
NM_153240.5(NPHP3):c.3734C>T (p.Ala1245Val)
|
|
|
NM_153240.5(NPHP3):c.373C>T (p.Arg125Trp)
|
rs1483057605
|
|
NM_153240.5(NPHP3):c.3757C>A (p.Leu1253Met)
|
|
|
NM_153240.5(NPHP3):c.3764G>A (p.Arg1255Gln)
|
|
|
NM_153240.5(NPHP3):c.3773C>A (p.Pro1258His)
|
rs778016120
|
|
NM_153240.5(NPHP3):c.3785A>G (p.Glu1262Gly)
|
rs1489156590
|
|
NM_153240.5(NPHP3):c.3787A>G (p.Thr1263Ala)
|
rs1939063603
|
|
NM_153240.5(NPHP3):c.3787del (p.Thr1263fs)
|
rs2107961294
|
|
NM_153240.5(NPHP3):c.3807G>A (p.Val1269=)
|
|
|
NM_153240.5(NPHP3):c.3809T>C (p.Leu1270Pro)
|
rs794727430
|
|
NM_153240.5(NPHP3):c.3810dup (p.Ser1271Ter)
|
|
|
NM_153240.5(NPHP3):c.3812+16_3812+17del
|
|
|
NM_153240.5(NPHP3):c.3812+1G>T
|
rs1459151671
|
|
NM_153240.5(NPHP3):c.3812+4A>T
|
|
|
NM_153240.5(NPHP3):c.3813-12TC[2]
|
|
|
NM_153240.5(NPHP3):c.3813-12del
|
rs2107960657
|
|
NM_153240.5(NPHP3):c.3813-18_3813-17del
|
|
|
NM_153240.5(NPHP3):c.3820G>T (p.Gly1274Ter)
|
rs1939045407
|
|
NM_153240.5(NPHP3):c.3821GAG[1] (p.Gly1275del)
|
rs119456959
|
|
NM_153240.5(NPHP3):c.3832G>C (p.Glu1278Gln)
|
rs1472447484
|
|
NM_153240.5(NPHP3):c.3833A>T (p.Glu1278Val)
|
rs757964370
|
|
NM_153240.5(NPHP3):c.3838G>A (p.Ala1280Thr)
|
|
|
NM_153240.5(NPHP3):c.3841G>A (p.Ala1281Thr)
|
rs1939044718
|
|
NM_153240.5(NPHP3):c.3846A>G (p.Glu1282=)
|
|
|
NM_153240.5(NPHP3):c.3857G>A (p.Arg1286Lys)
|
rs2107960602
|
|
NM_153240.5(NPHP3):c.3858G>T (p.Arg1286Ser)
|
|
|
NM_153240.5(NPHP3):c.3872AAG[1] (p.Glu1292del)
|
rs1200012206
|
|
NM_153240.5(NPHP3):c.3884C>T (p.Thr1295Ile)
|
|
|
NM_153240.5(NPHP3):c.3891C>T (p.Leu1297=)
|
rs1436695205
|
|
NM_153240.5(NPHP3):c.3892T>C (p.Leu1298=)
|
|
|
NM_153240.5(NPHP3):c.389T>A (p.Leu130Gln)
|
rs2108007468
|
|
NM_153240.5(NPHP3):c.391C>T (p.Gln131Ter)
|
|
|
NM_153240.5(NPHP3):c.392A>G (p.Gln131Arg)
|
|
|
NM_153240.5(NPHP3):c.393+16G>T
|
|
|
NM_153240.5(NPHP3):c.393+19G>A
|
|
|
NM_153240.5(NPHP3):c.393+20C>G
|
|
|
NM_153240.5(NPHP3):c.393+7C>T
|
|
|
NM_153240.5(NPHP3):c.3935C>T (p.Thr1312Met)
|
|
|
NM_153240.5(NPHP3):c.394-17_394-15del
|
rs766909353
|
|
NM_153240.5(NPHP3):c.394-20A>G
|
|
|
NM_153240.5(NPHP3):c.394-35_394-20del
|
rs771153447
|
|
NM_153240.5(NPHP3):c.3959C>A (p.Ser1320Tyr)
|
rs1350855452
|
|
NM_153240.5(NPHP3):c.3964_3966del (p.Asn1322del)
|
rs779824626
|
|
NM_153240.5(NPHP3):c.396A>T (p.Ala132=)
|
|
|
NM_153240.5(NPHP3):c.402A>G (p.Gln134=)
|
rs2108003851
|
|
NM_153240.5(NPHP3):c.403A>G (p.Lys135Glu)
|
rs2108003849
|
|
NM_153240.5(NPHP3):c.406del (p.Thr136fs)
|
rs1379989124
|
|
NM_153240.5(NPHP3):c.40G>A (p.Glu14Lys)
|
rs761435204
|
|
NM_153240.5(NPHP3):c.410del (p.Tyr137fs)
|
rs1560017690
|
|
NM_153240.5(NPHP3):c.428A>G (p.Glu143Gly)
|
rs1576688460
|
|
NM_153240.5(NPHP3):c.434_437del (p.Glu145fs)
|
rs763300393
|
|
NM_153240.5(NPHP3):c.436del (p.Ser146fs)
|
rs1940156340
|
|
NM_153240.5(NPHP3):c.445G>A (p.Glu149Lys)
|
rs1940155952
|
|
NM_153240.5(NPHP3):c.449C>G (p.Ala150Gly)
|
|
|
NM_153240.5(NPHP3):c.457C>T (p.Gln153Ter)
|
|
|
NM_153240.5(NPHP3):c.460G>C (p.Ala154Pro)
|
rs1553775398
|
|
NM_153240.5(NPHP3):c.463A>G (p.Met155Val)
|
rs780207607
|
|
NM_153240.5(NPHP3):c.473C>T (p.Ala158Val)
|
rs1940154883
|
|
NM_153240.5(NPHP3):c.474A>G (p.Ala158=)
|
rs758512712
|
|
NM_153240.5(NPHP3):c.502G>A (p.Val168Ile)
|
|
|
NM_153240.5(NPHP3):c.519+11del
|
rs2108003644
|
|
NM_153240.5(NPHP3):c.519+13C>A
|
|
|
NM_153240.5(NPHP3):c.519+13C>T
|
|
|
NM_153240.5(NPHP3):c.520-10C>A
|
rs200144727
|
|
NM_153240.5(NPHP3):c.520-13A>G
|
|
|
NM_153240.5(NPHP3):c.520A>T (p.Ile174Phe)
|
rs1553775338
|
|
NM_153240.5(NPHP3):c.523T>G (p.Phe175Val)
|
|
|
NM_153240.5(NPHP3):c.531G>A (p.Glu177=)
|
|
|
NM_153240.5(NPHP3):c.545A>G (p.Glu182Gly)
|
|
|
NM_153240.5(NPHP3):c.561G>A (p.Leu187=)
|
rs1194475374
|
|
NM_153240.5(NPHP3):c.572G>A (p.Arg191Lys)
|
|
|
NM_153240.5(NPHP3):c.576G>A (p.Glu192=)
|
|
|
NM_153240.5(NPHP3):c.577T>C (p.Leu193=)
|
|
|
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.627T>C (p.Asp209=)
|
rs2108002787
|
|
NM_153240.5(NPHP3):c.632G>T (p.Gly211Val)
|
|
|
NM_153240.5(NPHP3):c.633G>A (p.Gly211=)
|
|
|
NM_153240.5(NPHP3):c.634dup (p.Glu212fs)
|
rs747052534
|
|
NM_153240.5(NPHP3):c.644C>T (p.Ser215Leu)
|
rs1940131512
|
|
NM_153240.5(NPHP3):c.652A>G (p.Asn218Asp)
|
rs2108002751
|
|
NM_153240.5(NPHP3):c.666C>T (p.Val222=)
|
rs2108002721
|
|
NM_153240.5(NPHP3):c.670+10_670+11insGG
|
|
|
NM_153240.5(NPHP3):c.670+13C>A
|
|
|
NM_153240.5(NPHP3):c.670+13C>T
|
rs202228115
|
|
NM_153240.5(NPHP3):c.670+14del
|
|
|
NM_153240.5(NPHP3):c.670+19dup
|
|
|
NM_153240.5(NPHP3):c.670+9A>G
|
rs2108002703
|
|
NM_153240.5(NPHP3):c.707_716del (p.Ala236fs)
|
rs1349623728
|
|
NM_153240.5(NPHP3):c.727A>G (p.Ile243Val)
|
rs1560016174
|
|
NM_153240.5(NPHP3):c.777C>T (p.Ala259=)
|
rs1384613347
|
|
NM_153240.5(NPHP3):c.788T>G (p.Ile263Arg)
|
|
|
NM_153240.5(NPHP3):c.799G>C (p.Gly267Arg)
|
|
|
NM_153240.5(NPHP3):c.802C>T (p.Pro268Ser)
|
|
|
NM_153240.5(NPHP3):c.803C>A (p.Pro268His)
|
rs1477838330
|
|
NM_153240.5(NPHP3):c.817A>G (p.Asn273Asp)
|
|
|
NM_153240.5(NPHP3):c.819T>C (p.Asn273=)
|
rs2108000058
|
|
NM_153240.5(NPHP3):c.824-15A>T
|
|
|
NM_153240.5(NPHP3):c.824-8A>G
|
|
|
NM_153240.5(NPHP3):c.833A>G (p.Asp278Gly)
|
rs1435611774
|
|
NM_153240.5(NPHP3):c.838G>A (p.Ala280Thr)
|
rs2107998548
|
|
NM_153240.5(NPHP3):c.845C>G (p.Ala282Gly)
|
rs2107998541
|
|
NM_153240.5(NPHP3):c.848G>A (p.Ser283Asn)
|
rs549852830
|
|
NM_153240.5(NPHP3):c.851T>C (p.Leu284Ser)
|
rs1248469945
|
|
NM_153240.5(NPHP3):c.865C>G (p.Pro289Ala)
|
rs774133053
|
|
NM_153240.5(NPHP3):c.895A>G (p.Thr299Ala)
|
rs1306139800
|
|
NM_153240.5(NPHP3):c.896C>G (p.Thr299Ser)
|
rs1940015669
|
|
NM_153240.5(NPHP3):c.913A>G (p.Ile305Val)
|
rs886058004
|
|
NM_153240.5(NPHP3):c.920C>T (p.Thr307Ile)
|
rs535433647
|
|
NM_153240.5(NPHP3):c.923A>G (p.Asp308Gly)
|
rs1940014734
|
|
NM_153240.5(NPHP3):c.957+14T>G
|
|
|
NM_153240.5(NPHP3):c.957+16_957+24del
|
|
|
NM_153240.5(NPHP3):c.957+18T>C
|
|
|
NM_153240.5(NPHP3):c.957+6G>A
|
|
|
NM_153240.5(NPHP3):c.958-4T>C
|
rs2107996443
|
|
NM_153240.5(NPHP3):c.961T>C (p.Tyr321His)
|
|
|
NM_153240.5(NPHP3):c.991A>G (p.Thr331Ala)
|
rs113091599
|
|
NM_153240.5(NPHP3):c.993A>G (p.Thr331=)
|
rs1939961664
|
|