NM_153240.5(NPHP3):c.3281G>A (p.Arg1094Gln)
|
rs146890274
|
0.00054
|
NM_153240.5(NPHP3):c.2881C>G (p.Gln961Glu)
|
rs144989330
|
0.00036
|
NM_153240.5(NPHP3):c.944A>T (p.Asp315Val)
|
rs149565564
|
0.00017
|
NM_153240.5(NPHP3):c.670+6T>C
|
rs190074663
|
0.00015
|
NM_153240.5(NPHP3):c.1813C>T (p.Arg605Cys)
|
rs144731534
|
0.00014
|
NM_153240.5(NPHP3):c.1930G>A (p.Val644Met)
|
rs1238689431
|
0.00013
|
NM_153240.5(NPHP3):c.3570+4A>G
|
rs374989123
|
0.00013
|
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.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_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_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.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_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.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.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_153240.5(NPHP3):c.1027A>G (p.Ile343Val)
|
rs372145755
|
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.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.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.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.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_153240.5(NPHP3):c.1091T>C (p.Ile364Thr)
|
rs1186561814
|
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.1513G>A (p.Gly505Arg)
|
rs375225209
|
0.00001
|
NM_153240.5(NPHP3):c.1537C>T (p.Leu513Phe)
|
rs1250547107
|
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.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.2516C>G (p.Thr839Ser)
|
rs1268939572
|
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.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
|
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.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.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.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.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.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.1571C>T (p.Pro524Leu)
|
rs1309124422
|
|
NM_153240.5(NPHP3):c.1649A>G (p.Asn550Ser)
|
|
|
NM_153240.5(NPHP3):c.16T>C (p.Ser6Pro)
|
|
|
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.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.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.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.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)
|
|
|
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.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.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.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.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
|
|