|
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.*266G>A
|
rs11708200
|
0.03396
|
|
NM_153240.5(NPHP3):c.*657C>T
|
rs79224795
|
0.03141
|
|
NM_153240.5(NPHP3):c.2571-7T>C
|
rs62292468
|
0.02974
|
|
NM_153240.5(NPHP3):c.*785G>A
|
rs6774366
|
0.02518
|
|
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.57G>C (p.Thr19=)
|
rs192633696
|
0.01128
|
|
NM_153240.5(NPHP3):c.154G>A (p.Ala52Thr)
|
rs145643112
|
0.01037
|
|
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.*759G>A
|
rs116338839
|
0.00632
|
|
NM_153240.5(NPHP3):c.3252A>G (p.Thr1084=)
|
rs11915053
|
0.00629
|
|
NM_153240.5(NPHP3):c.*815G>A
|
rs141464909
|
0.00625
|
|
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.*1188A>G
|
rs7632096
|
0.00282
|
|
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.449C>T (p.Ala150Val)
|
rs142663818
|
0.00142
|
|
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.*1020T>C
|
rs186828918
|
0.00120
|
|
NM_153240.5(NPHP3):c.3093A>G (p.Glu1031=)
|
rs112300370
|
0.00120
|
|
NM_153240.5(NPHP3):c.*852C>A
|
rs192360684
|
0.00104
|
|
NM_153240.5(NPHP3):c.3663C>T (p.Ala1221=)
|
rs112144165
|
0.00099
|
|
NM_153240.5(NPHP3):c.105G>A (p.Lys35=)
|
rs377060857
|
0.00085
|
|
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.*1176G>A
|
rs183658380
|
0.00063
|
|
NM_153240.5(NPHP3):c.*926C>T
|
rs570076170
|
0.00063
|
|
NM_153240.5(NPHP3):c.*141T>C
|
rs538987591
|
0.00061
|
|
NM_153240.5(NPHP3):c.*519C>T
|
rs3891704
|
0.00060
|
|
NM_153240.5(NPHP3):c.3281G>A (p.Arg1094Gln)
|
rs146890274
|
0.00054
|
|
NM_153240.5(NPHP3):c.*437C>T
|
rs539230132
|
0.00050
|
|
NM_153240.5(NPHP3):c.*1121A>G
|
rs576904017
|
0.00046
|
|
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.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.276G>C (p.Glu92Asp)
|
rs143930288
|
0.00026
|
|
NM_153240.5(NPHP3):c.408G>A (p.Thr136=)
|
rs141410951
|
0.00026
|
|
NM_153240.5(NPHP3):c.2172-4A>G
|
rs375032661
|
0.00020
|
|
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.3126-8T>G
|
rs201592109
|
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.*46A>G
|
rs530016526
|
0.00012
|
|
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.65C>T (p.Ala22Val)
|
rs369447363
|
0.00011
|
|
NM_153240.5(NPHP3):c.2104C>T (p.Arg702Ter)
|
rs267606916
|
0.00010
|
|
NM_153240.5(NPHP3):c.2155G>A (p.Gly719Ser)
|
rs369022568
|
0.00010
|
|
NM_153240.5(NPHP3):c.2497G>C (p.Glu833Gln)
|
rs142084136
|
0.00010
|
|
NM_153240.5(NPHP3):c.87G>T (p.Glu29Asp)
|
rs951093397
|
0.00010
|
|
NM_153240.5(NPHP3):c.981A>C (p.Arg327Ser)
|
rs562721694
|
0.00010
|
|
NM_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.703G>A (p.Gly235Arg)
|
rs368570508
|
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.1240C>G (p.Gln414Glu)
|
rs373255520
|
0.00006
|
|
NM_153240.5(NPHP3):c.141A>T (p.Arg47=)
|
rs774866337
|
0.00006
|
|
NM_153240.5(NPHP3):c.1873A>G (p.Ile625Val)
|
rs745831184
|
0.00006
|
|
NM_153240.5(NPHP3):c.1887+17del
|
rs772091214
|
0.00006
|
|
NM_153240.5(NPHP3):c.1976C>T (p.Pro659Leu)
|
rs147836124
|
0.00006
|
|
NM_153240.5(NPHP3):c.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.958-2A>G
|
rs780148543
|
0.00006
|
|
NM_153240.5(NPHP3):c.209T>C (p.Leu70Pro)
|
rs867826443
|
0.00005
|
|
NM_153240.5(NPHP3):c.2342G>A (p.Gly781Asp)
|
rs781180515
|
0.00005
|
|
NM_153240.5(NPHP3):c.3126-4T>A
|
rs746873186
|
0.00005
|
|
NM_153240.5(NPHP3):c.3722T>C (p.Leu1241Ser)
|
rs756330976
|
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.1476A>T (p.Glu492Asp)
|
rs371254114
|
0.00004
|
|
NM_153240.5(NPHP3):c.185G>A (p.Arg62His)
|
rs1295666035
|
0.00004
|
|
NM_153240.5(NPHP3):c.2169G>A (p.Ala723=)
|
rs563403703
|
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.500A>C (p.Lys167Thr)
|
rs771832737
|
0.00004
|
|
NM_153240.5(NPHP3):c.*1213T>C
|
rs886057994
|
0.00003
|
|
NM_153240.5(NPHP3):c.*784C>T
|
rs376015619
|
0.00003
|
|
NM_153240.5(NPHP3):c.1027A>G (p.Ile343Val)
|
rs372145755
|
0.00003
|
|
NM_153240.5(NPHP3):c.1817G>A (p.Trp606Ter)
|
rs182135982
|
0.00003
|
|
NM_153240.5(NPHP3):c.188G>A (p.Gly63Glu)
|
rs763699273
|
0.00003
|
|
NM_153240.5(NPHP3):c.189G>C (p.Gly63=)
|
rs750280281
|
0.00003
|
|
NM_153240.5(NPHP3):c.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.3009T>C (p.Asn1003=)
|
rs372990521
|
0.00003
|
|
NM_153240.5(NPHP3):c.3063G>A (p.Ala1021=)
|
rs769832219
|
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.1381G>T (p.Glu461Ter)
|
rs119456961
|
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.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.2918G>A (p.Arg973Gln)
|
rs119456963
|
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.3205G>A (p.Gly1069Arg)
|
rs752118322
|
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.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.*1098C>T
|
rs886057995
|
0.00001
|
|
NM_153240.5(NPHP3):c.*139T>G
|
rs886058001
|
0.00001
|
|
NM_153240.5(NPHP3):c.*351A>T
|
rs992880401
|
0.00001
|
|
NM_153240.5(NPHP3):c.*692C>T
|
rs886057997
|
0.00001
|
|
NM_153240.5(NPHP3):c.1149T>G (p.Phe383Leu)
|
rs747256150
|
0.00001
|
|
NM_153240.5(NPHP3):c.116G>T (p.Arg39Leu)
|
rs753467164
|
0.00001
|
|
NM_153240.5(NPHP3):c.1174C>T (p.Arg392Ter)
|
rs1485445500
|
0.00001
|
|
NM_153240.5(NPHP3):c.1190G>A (p.Arg397His)
|
rs755094682
|
0.00001
|
|
NM_153240.5(NPHP3):c.1245T>G (p.Val415=)
|
rs772276779
|
0.00001
|
|
NM_153240.5(NPHP3):c.1275+3A>T
|
rs370712498
|
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.146C>T (p.Ala49Val)
|
rs763420553
|
0.00001
|
|
NM_153240.5(NPHP3):c.1471A>T (p.Met491Leu)
|
rs756807243
|
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.1629-17_1629-13del
|
rs1197764455
|
0.00001
|
|
NM_153240.5(NPHP3):c.1654C>A (p.Pro552Thr)
|
rs776287337
|
0.00001
|
|
NM_153240.5(NPHP3):c.1729C>T (p.Arg577Ter)
|
rs119456962
|
0.00001
|
|
NM_153240.5(NPHP3):c.1757C>G (p.Ser586Cys)
|
rs1939564898
|
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.2008G>C (p.Asp670His)
|
rs372339999
|
0.00001
|
|
NM_153240.5(NPHP3):c.208C>T (p.Leu70=)
|
rs765533675
|
0.00001
|
|
NM_153240.5(NPHP3):c.2114G>A (p.Arg705His)
|
rs139548649
|
0.00001
|
|
NM_153240.5(NPHP3):c.2171+1G>A
|
rs1280230808
|
0.00001
|
|
NM_153240.5(NPHP3):c.2197A>G (p.Lys733Glu)
|
rs150593334
|
0.00001
|
|
NM_153240.5(NPHP3):c.2222G>A (p.Cys741Tyr)
|
rs1451958461
|
0.00001
|
|
NM_153240.5(NPHP3):c.224A>G (p.Lys75Arg)
|
rs1217928367
|
0.00001
|
|
NM_153240.5(NPHP3):c.2259C>T (p.His753=)
|
rs765940696
|
0.00001
|
|
NM_153240.5(NPHP3):c.2263A>C (p.Ile755Leu)
|
rs772613405
|
0.00001
|
|
NM_153240.5(NPHP3):c.2302A>T (p.Met768Leu)
|
rs777858346
|
0.00001
|
|
NM_153240.5(NPHP3):c.2311-2A>G
|
rs1332659264
|
0.00001
|
|
NM_153240.5(NPHP3):c.2346G>A (p.Val782=)
|
rs200418725
|
0.00001
|
|
NM_153240.5(NPHP3):c.236C>T (p.Ser79Leu)
|
rs1303757034
|
0.00001
|
|
NM_153240.5(NPHP3):c.237G>A (p.Ser79=)
|
rs555921512
|
0.00001
|
|
NM_153240.5(NPHP3):c.2531A>G (p.Tyr844Cys)
|
rs752254827
|
0.00001
|
|
NM_153240.5(NPHP3):c.2571-12C>G
|
rs886058003
|
0.00001
|
|
NM_153240.5(NPHP3):c.2666T>C (p.Leu889Pro)
|
rs747876996
|
0.00001
|
|
NM_153240.5(NPHP3):c.2805C>T (p.Gly935=)
|
rs1281725083
|
0.00001
|
|
NM_153240.5(NPHP3):c.2884-8C>T
|
rs757300023
|
0.00001
|
|
NM_153240.5(NPHP3):c.2T>C (p.Met1Thr)
|
rs886041990
|
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.3237G>C (p.Gln1079His)
|
rs764287266
|
0.00001
|
|
NM_153240.5(NPHP3):c.323A>C (p.Glu108Ala)
|
rs371290162
|
0.00001
|
|
NM_153240.5(NPHP3):c.3287T>C (p.Leu1096Pro)
|
rs777276873
|
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.3373C>T (p.Arg1125Ter)
|
rs368138001
|
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.3494G>A (p.Arg1165Gln)
|
rs138630766
|
0.00001
|
|
NM_153240.5(NPHP3):c.3499C>T (p.Arg1167Cys)
|
rs201135796
|
0.00001
|
|
NM_153240.5(NPHP3):c.3537G>A (p.Thr1179=)
|
rs761585621
|
0.00001
|
|
NM_153240.5(NPHP3):c.3563A>G (p.Lys1188Arg)
|
rs772079066
|
0.00001
|
|
NM_153240.5(NPHP3):c.3619C>T (p.Arg1207Ter)
|
rs780020801
|
0.00001
|
|
NM_153240.5(NPHP3):c.3696+20C>T
|
rs773940041
|
0.00001
|
|
NM_153240.5(NPHP3):c.3697-7T>A
|
rs777908405
|
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.3875A>C (p.Glu1292Ala)
|
rs766281273
|
0.00001
|
|
NM_153240.5(NPHP3):c.430A>G (p.Lys144Glu)
|
rs745342273
|
0.00001
|
|
NM_153240.5(NPHP3):c.590T>G (p.Leu197Arg)
|
rs757401076
|
0.00001
|
|
NM_153240.5(NPHP3):c.653A>G (p.Asn218Ser)
|
rs199956251
|
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.856C>G (p.Gln286Glu)
|
rs775337662
|
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.*1078T>G
|
rs886057996
|
|
|
NM_153240.5(NPHP3):c.*1094A>G
|
rs1939005375
|
|
|
NM_153240.5(NPHP3):c.*1184A>T
|
rs1939002888
|
|
|
NM_153240.5(NPHP3):c.*178T>G
|
rs1939035707
|
|
|
NM_153240.5(NPHP3):c.*626C>G
|
rs1156702698
|
|
|
NM_153240.5(NPHP3):c.1001A>G (p.Tyr334Cys)
|
|
|
|
NM_153240.5(NPHP3):c.1068A>G (p.Glu356=)
|
rs1215885580
|
|
|
NM_153240.5(NPHP3):c.1101_1102insATTTTATTATT (p.His368fs)
|
rs1560014115
|
|
|
NM_153240.5(NPHP3):c.1118+11A>C
|
rs751629184
|
|
|
NM_153240.5(NPHP3):c.1118+16dup
|
rs560151715
|
|
|
NM_153240.5(NPHP3):c.1119-6A>G
|
|
|
|
NM_153240.5(NPHP3):c.1139A>T (p.Glu380Val)
|
|
|
|
NM_153240.5(NPHP3):c.1193T>C (p.Leu398Ser)
|
|
|
|
NM_153240.5(NPHP3):c.1220C>G (p.Ser407Cys)
|
|
|
|
NM_153240.5(NPHP3):c.1220_1221del (p.Ser407fs)
|
rs1404621140
|
|
|
NM_153240.5(NPHP3):c.1228C>A (p.Gln410Lys)
|
|
|
|
NM_153240.5(NPHP3):c.1233G>T (p.Leu411Phe)
|
|
|
|
NM_153240.5(NPHP3):c.1257C>G (p.Asn419Lys)
|
|
|
|
NM_153240.5(NPHP3):c.1260G>C (p.Lys420Asn)
|
|
|
|
NM_153240.5(NPHP3):c.1298C>T (p.Pro433Leu)
|
|
|
|
NM_153240.5(NPHP3):c.1304_1306del (p.Glu435del)
|
rs1456714047
|
|
|
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.1447G>A (p.Asp483Asn)
|
|
|
|
NM_153240.5(NPHP3):c.1452A>G (p.Ile484Met)
|
rs771804922
|
|
|
NM_153240.5(NPHP3):c.1453C>T (p.His485Tyr)
|
|
|
|
NM_153240.5(NPHP3):c.1457A>T (p.Asp486Val)
|
|
|
|
NM_153240.5(NPHP3):c.1468C>T (p.Gln490Ter)
|
|
|
|
NM_153240.5(NPHP3):c.148G>A (p.Gly50Arg)
|
|
|
|
NM_153240.5(NPHP3):c.151G>A (p.Ala51Thr)
|
|
|
|
NM_153240.5(NPHP3):c.1524+11G>T
|
rs1939687605
|
|
|
NM_153240.5(NPHP3):c.1525T>C (p.Tyr509His)
|
rs1939605927
|
|
|
NM_153240.5(NPHP3):c.152C>T (p.Ala51Val)
|
rs577583077
|
|
|
NM_153240.5(NPHP3):c.1534C>G (p.Arg512Gly)
|
|
|
|
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.1565C>T (p.Pro522Leu)
|
rs576089202
|
|
|
NM_153240.5(NPHP3):c.1584G>T (p.Val528=)
|
|
|
|
NM_153240.5(NPHP3):c.161G>A (p.Gly54Glu)
|
rs1281178184
|
|
|
NM_153240.5(NPHP3):c.1628+3A>G
|
|
|
|
NM_153240.5(NPHP3):c.1675del (p.His559fs)
|
|
|
|
NM_153240.5(NPHP3):c.169_174dup (p.Pro57_Gly58dup)
|
rs1553775768
|
|
|
NM_153240.5(NPHP3):c.1743G>A (p.Lys581=)
|
|
|
|
NM_153240.5(NPHP3):c.1777A>G (p.Thr593Ala)
|
rs373627362
|
|
|
NM_153240.5(NPHP3):c.1796T>C (p.Leu599Pro)
|
|
|
|
NM_153240.5(NPHP3):c.1838G>A (p.Arg613His)
|
|
|
|
NM_153240.5(NPHP3):c.1853T>C (p.Ile618Thr)
|
rs139730838
|
|
|
NM_153240.5(NPHP3):c.1853T>G (p.Ile618Ser)
|
rs139730838
|
|
|
NM_153240.5(NPHP3):c.1888-13_1913del
|
|
|
|
NM_153240.5(NPHP3):c.1936_1937del (p.Val646fs)
|
|
|
|
NM_153240.5(NPHP3):c.1945A>T (p.Ile649Phe)
|
|
|
|
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.1985G>C (p.Arg662Thr)
|
|
|
|
NM_153240.5(NPHP3):c.1dup (p.Met1fs)
|
rs2108008416
|
|
|
NM_153240.5(NPHP3):c.2089-8T>C
|
|
|
|
NM_153240.5(NPHP3):c.2107C>A (p.His703Asn)
|
|
|
|
NM_153240.5(NPHP3):c.2141A>T (p.Tyr714Phe)
|
|
|
|
NM_153240.5(NPHP3):c.2168C>T (p.Ala723Val)
|
|
|
|
NM_153240.5(NPHP3):c.2201T>G (p.Ile734Ser)
|
|
|
|
NM_153240.5(NPHP3):c.2210A>C (p.Gln737Pro)
|
|
|
|
NM_153240.5(NPHP3):c.2219A>G (p.Gln740Arg)
|
|
|
|
NM_153240.5(NPHP3):c.2257C>T (p.His753Tyr)
|
|
|
|
NM_153240.5(NPHP3):c.225G>C (p.Lys75Asn)
|
|
|
|
NM_153240.5(NPHP3):c.2263A>G (p.Ile755Val)
|
rs772613405
|
|
|
NM_153240.5(NPHP3):c.2267G>A (p.Arg756Gln)
|
|
|
|
NM_153240.5(NPHP3):c.2311-6A>G
|
rs769918347
|
|
|
NM_153240.5(NPHP3):c.2359C>A (p.Leu787Met)
|
|
|
|
NM_153240.5(NPHP3):c.237G>T (p.Ser79=)
|
|
|
|
NM_153240.5(NPHP3):c.2401T>C (p.Ser801Pro)
|
|
|
|
NM_153240.5(NPHP3):c.2411A>G (p.His804Arg)
|
|
|
|
NM_153240.5(NPHP3):c.2419T>C (p.Tyr807His)
|
|
|
|
NM_153240.5(NPHP3):c.2500T>G (p.Tyr834Asp)
|
|
|
|
NM_153240.5(NPHP3):c.2518G>A (p.Val840Ile)
|
rs138865996
|
|
|
NM_153240.5(NPHP3):c.260C>G (p.Ala87Gly)
|
rs886058005
|
|
|
NM_153240.5(NPHP3):c.2618T>G (p.Phe873Cys)
|
|
|
|
NM_153240.5(NPHP3):c.2647C>T (p.His883Tyr)
|
rs886044248
|
|
|
NM_153240.5(NPHP3):c.2687A>C (p.Tyr896Ser)
|
|
|
|
NM_153240.5(NPHP3):c.2783A>G (p.Gln928Arg)
|
rs751790371
|
|
|
NM_153240.5(NPHP3):c.2797T>G (p.Cys933Gly)
|
|
|
|
NM_153240.5(NPHP3):c.2852G>T (p.Arg951Leu)
|
|
|
|
NM_153240.5(NPHP3):c.2867T>C (p.Leu956Pro)
|
|
|
|
NM_153240.5(NPHP3):c.2884-4C>A
|
rs185913426
|
|
|
NM_153240.5(NPHP3):c.2890G>A (p.Val964Ile)
|
|
|
|
NM_153240.5(NPHP3):c.2917C>T (p.Arg973Ter)
|
|
|
|
NM_153240.5(NPHP3):c.2936C>T (p.Pro979Leu)
|
rs903849432
|
|
|
NM_153240.5(NPHP3):c.2956dup (p.Gln986fs)
|
rs1560002147
|
|
|
NM_153240.5(NPHP3):c.2995A>C (p.Lys999Gln)
|
rs559425353
|
|
|
NM_153240.5(NPHP3):c.3003del (p.Phe1001fs)
|
rs1560002113
|
|
|
NM_153240.5(NPHP3):c.3023A>G (p.Tyr1008Cys)
|
rs2107967560
|
|
|
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.305G>A (p.Arg102His)
|
|
|
|
NM_153240.5(NPHP3):c.3103A>G (p.Thr1035Ala)
|
|
|
|
NM_153240.5(NPHP3):c.3126-17T>G
|
rs186041429
|
|
|
NM_153240.5(NPHP3):c.3137C>G (p.Ala1046Gly)
|
rs756790389
|
|
|
NM_153240.5(NPHP3):c.3166A>G (p.Ile1056Val)
|
|
|
|
NM_153240.5(NPHP3):c.3201+11A>G
|
rs1423098134
|
|
|
NM_153240.5(NPHP3):c.3201+1G>T
|
|
|
|
NM_153240.5(NPHP3):c.3202-4_3202-3delinsAA
|
|
|
|
NM_153240.5(NPHP3):c.3214C>T (p.Leu1072Phe)
|
rs886058002
|
|
|
NM_153240.5(NPHP3):c.3220C>T (p.Arg1074Cys)
|
rs750800732
|
|
|
NM_153240.5(NPHP3):c.3257G>T (p.Gly1086Val)
|
|
|
|
NM_153240.5(NPHP3):c.326T>A (p.Leu109Ter)
|
|
|
|
NM_153240.5(NPHP3):c.326TGT[1] (p.Leu110del)
|
rs753616848
|
|
|
NM_153240.5(NPHP3):c.3286C>T (p.Leu1096Phe)
|
rs141144099
|
|
|
NM_153240.5(NPHP3):c.3326T>G (p.Leu1109Arg)
|
rs369704665
|
|
|
NM_153240.5(NPHP3):c.3328G>C (p.Glu1110Gln)
|
|
|
|
NM_153240.5(NPHP3):c.3340C>T (p.Gln1114Ter)
|
rs119456964
|
|
|
NM_153240.5(NPHP3):c.3357_3379dup (p.Leu1127delinsProTer)
|
|
|
|
NM_153240.5(NPHP3):c.336G>T (p.Met112Ile)
|
|
|
|
NM_153240.5(NPHP3):c.3402_3403del (p.Ala1135fs)
|
rs746849675
|
|
|
NM_153240.5(NPHP3):c.3406C>T (p.Gln1136Ter)
|
rs1576660495
|
|
|
NM_153240.5(NPHP3):c.340C>G (p.Arg114Gly)
|
|
|
|
NM_153240.5(NPHP3):c.3447_3449dup (p.Gln1150dup)
|
rs779803619
|
|
|
NM_153240.5(NPHP3):c.3448C>G (p.Gln1150Glu)
|
|
|
|
NM_153240.5(NPHP3):c.3500G>T (p.Arg1167Leu)
|
|
|
|
NM_153240.5(NPHP3):c.3502G>A (p.Ala1168Thr)
|
|
|
|
NM_153240.5(NPHP3):c.3527T>C (p.Leu1176Ser)
|
|
|
|
NM_153240.5(NPHP3):c.3570+1del
|
|
|
|
NM_153240.5(NPHP3):c.3570+5G>A
|
|
|
|
NM_153240.5(NPHP3):c.3597G>C (p.Leu1199Phe)
|
|
|
|
NM_153240.5(NPHP3):c.35del (p.Gly12fs)
|
|
|
|
NM_153240.5(NPHP3):c.3696G>A (p.Met1232Ile)
|
|
|
|
NM_153240.5(NPHP3):c.3696_3696+3del
|
|
|
|
NM_153240.5(NPHP3):c.3707_3709del (p.Val1236del)
|
|
|
|
NM_153240.5(NPHP3):c.3710A>C (p.Glu1237Ala)
|
|
|
|
NM_153240.5(NPHP3):c.3728A>C (p.Glu1243Ala)
|
|
|
|
NM_153240.5(NPHP3):c.3757C>G (p.Leu1253Val)
|
rs775281384
|
|
|
NM_153240.5(NPHP3):c.3809T>C (p.Leu1270Pro)
|
rs794727430
|
|
|
NM_153240.5(NPHP3):c.3812+2dup
|
|
|
|
NM_153240.5(NPHP3):c.3821GAG[1] (p.Gly1275del)
|
rs119456959
|
|
|
NM_153240.5(NPHP3):c.3833A>T (p.Glu1278Val)
|
rs757964370
|
|
|
NM_153240.5(NPHP3):c.3857G>C (p.Arg1286Thr)
|
|
|
|
NM_153240.5(NPHP3):c.385G>A (p.Glu129Lys)
|
|
|
|
NM_153240.5(NPHP3):c.38_40del (p.Gly13del)
|
|
|
|
NM_153240.5(NPHP3):c.3926G>A (p.Ser1309Asn)
|
|
|
|
NM_153240.5(NPHP3):c.392A>G (p.Gln131Arg)
|
|
|
|
NM_153240.5(NPHP3):c.3931G>A (p.Asp1311Asn)
|
|
|
|
NM_153240.5(NPHP3):c.3953C>T (p.Ala1318Val)
|
|
|
|
NM_153240.5(NPHP3):c.3975del (p.Gln1326fs)
|
|
|
|
NM_153240.5(NPHP3):c.434_437del (p.Glu145fs)
|
rs763300393
|
|
|
NM_153240.5(NPHP3):c.448G>A (p.Ala150Thr)
|
|
|
|
NM_153240.5(NPHP3):c.44T>G (p.Val15Gly)
|
|
|
|
NM_153240.5(NPHP3):c.515T>G (p.Phe172Cys)
|
|
|
|
NM_153240.5(NPHP3):c.520-17A>G
|
|
|
|
NM_153240.5(NPHP3):c.520-1G>T
|
rs759262253
|
|
|
NM_153240.5(NPHP3):c.544G>T (p.Glu182Ter)
|
|
|
|
NM_153240.5(NPHP3):c.611dup (p.Ile205fs)
|
|
|
|
NM_153240.5(NPHP3):c.634dup (p.Glu212fs)
|
rs747052534
|
|
|
NM_153240.5(NPHP3):c.647A>G (p.Asp216Gly)
|
|
|
|
NM_153240.5(NPHP3):c.670+13C>T
|
rs202228115
|
|
|
NM_153240.5(NPHP3):c.67G>C (p.Gly23Arg)
|
|
|
|
NM_153240.5(NPHP3):c.700G>C (p.Gly234Arg)
|
|
|
|
NM_153240.5(NPHP3):c.713G>C (p.Gly238Ala)
|
|
|
|
NM_153240.5(NPHP3):c.728_729dup (p.Gly244Ter)
|
|
|
|
NM_153240.5(NPHP3):c.748C>T (p.Gln250Ter)
|
|
|
|
NM_153240.5(NPHP3):c.76G>A (p.Glu26Lys)
|
rs1465502034
|
|
|
NM_153240.5(NPHP3):c.799G>A (p.Gly267Arg)
|
|
|
|
NM_153240.5(NPHP3):c.800G>A (p.Gly267Glu)
|
|
|
|
NM_153240.5(NPHP3):c.823+1G>T
|
|
|
|
NM_153240.5(NPHP3):c.83_84delinsAT (p.Cys28Tyr)
|
|
|
|
NM_153240.5(NPHP3):c.841G>A (p.Val281Ile)
|
|
|
|
NM_153240.5(NPHP3):c.848G>A (p.Ser283Asn)
|
rs549852830
|
|
|
NM_153240.5(NPHP3):c.917A>T (p.Tyr306Phe)
|
|
|
|
NM_153240.5(NPHP3):c.957+4A>G
|
|
|
|
NM_153240.5(NPHP3):c.965C>T (p.Ser322Leu)
|
|
|
|
NM_153240.5(NPHP3):c.99G>C (p.Glu33Asp)
|
|
|