NM_012120.3(CD2AP):c.*496A>G
|
rs9463343
|
0.45596
|
NM_012120.3(CD2AP):c.*498A>G
|
rs36077218
|
0.21317
|
NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln)
|
rs61747728
|
0.02796
|
NM_004646.4(NPHS1):c.*529C>T
|
rs148755697
|
0.02405
|
NM_004646.4(NPHS1):c.1930+10C>T
|
rs76131336
|
0.01025
|
NM_012120.3(CD2AP):c.*452C>G
|
rs183129840
|
0.00945
|
NM_012120.3(CD2AP):c.*504A>G
|
rs879228960
|
0.00838
|
NM_004646.4(NPHS1):c.1758-11C>G
|
rs145554982
|
0.00802
|
NM_004646.4(NPHS1):c.563A>T (p.Asn188Ile)
|
rs145125791
|
0.00598
|
NM_014625.4(NPHS2):c.87C>G (p.Ala29=)
|
rs12123397
|
0.00495
|
NM_004646.4(NPHS1):c.43G>C (p.Gly15Arg)
|
rs73928330
|
0.00456
|
NM_004646.4(NPHS1):c.-140G>A
|
rs79692855
|
0.00423
|
NM_004646.4(NPHS1):c.1908C>T (p.Ser636=)
|
rs34761059
|
0.00420
|
NM_004646.4(NPHS1):c.3598C>T (p.Pro1200Ser)
|
rs35240811
|
0.00405
|
NM_004646.4(NPHS1):c.-57G>T
|
rs140404523
|
0.00403
|
NM_004646.4(NPHS1):c.1170+8G>A
|
rs140808195
|
0.00400
|
NM_004646.4(NPHS1):c.1926A>G (p.Val642=)
|
rs114728208
|
0.00397
|
NM_004646.4(NPHS1):c.1110T>C (p.Val370=)
|
rs116459838
|
0.00394
|
NM_004646.4(NPHS1):c.1758-8T>G
|
rs187501631
|
0.00387
|
NM_014625.4(NPHS2):c.-26G>T
|
rs144425595
|
0.00373
|
NM_012120.3(CD2AP):c.*494G>A
|
rs867559785
|
0.00352
|
NM_004646.4(NPHS1):c.*287C>T
|
rs151204365
|
0.00305
|
NM_014625.4(NPHS2):c.447C>T (p.Gly149=)
|
rs139111416
|
0.00289
|
NM_014625.4(NPHS2):c.*173G>A
|
rs114905610
|
0.00271
|
NM_002292.4(LAMB2):c.2307C>T (p.Leu769=)
|
rs147076626
|
0.00235
|
NM_004646.4(NPHS1):c.128T>C (p.Val43Ala)
|
rs140626538
|
0.00205
|
NM_016341.4(PLCE1):c.2999G>A (p.Ser1000Asn)
|
rs61751498
|
0.00200
|
NM_024426.6(WT1):c.309C>A (p.Gly103=)
|
rs547333427
|
0.00197
|
NM_016341.4(PLCE1):c.1567A>G (p.Ile523Val)
|
rs61751494
|
0.00188
|
NM_012120.3(CD2AP):c.*319A>C
|
rs532632702
|
0.00166
|
NM_014625.4(NPHS2):c.*209C>G
|
rs193266499
|
0.00163
|
NM_004646.4(NPHS1):c.3520C>T (p.His1174Tyr)
|
rs115489112
|
0.00161
|
NM_016341.4(PLCE1):c.-54G>T
|
rs41291122
|
0.00147
|
NM_004646.4(NPHS1):c.1638T>G (p.Thr546=)
|
rs115444936
|
0.00138
|
NM_002292.4(LAMB2):c.3645G>A (p.Ala1215=)
|
rs13082063
|
0.00137
|
NM_004646.4(NPHS1):c.*1020C>T
|
rs564256430
|
0.00133
|
NM_016341.4(PLCE1):c.*5G>C
|
rs149932305
|
0.00130
|
NM_004621.6(TRPC6):c.*1038T>G
|
rs142655335
|
0.00123
|
NM_004646.4(NPHS1):c.658T>G (p.Ser220Ala)
|
rs115333628
|
0.00116
|
NM_016341.4(PLCE1):c.-537G>A
|
rs573255713
|
0.00114
|
NM_016341.4(PLCE1):c.642A>T (p.Gly214=)
|
rs149064632
|
0.00110
|
NM_004646.4(NPHS1):c.597G>A (p.Glu199=)
|
rs61731102
|
0.00101
|
NM_016341.4(PLCE1):c.513G>A (p.Val171=)
|
rs61749239
|
0.00101
|
NM_016341.4(PLCE1):c.5782G>A (p.Val1928Ile)
|
rs202171627
|
0.00101
|
NM_004646.4(NPHS1):c.*751C>T
|
rs549430502
|
0.00099
|
NM_016341.4(PLCE1):c.1400C>T (p.Thr467Ile)
|
rs192219615
|
0.00098
|
NM_002292.4(LAMB2):c.-112A>T
|
rs546461860
|
0.00088
|
NM_004646.4(NPHS1):c.*1111G>T
|
rs777800161
|
0.00086
|
NM_002292.4(LAMB2):c.4118A>G (p.Asp1373Gly)
|
rs112933248
|
0.00076
|
NM_016341.4(PLCE1):c.4935G>A (p.Leu1645=)
|
rs369632735
|
0.00076
|
NM_004646.4(NPHS1):c.*609G>A
|
rs144206206
|
0.00074
|
NM_002292.4(LAMB2):c.3582C>T (p.Phe1194=)
|
rs138540017
|
0.00068
|
NM_002292.4(LAMB2):c.816T>C (p.Tyr272=)
|
rs151251039
|
0.00061
|
NM_016341.4(PLCE1):c.3814+13T>G
|
rs199705167
|
0.00061
|
NM_012120.3(CD2AP):c.-130C>G
|
rs886061516
|
0.00060
|
NM_016341.4(PLCE1):c.1461T>C (p.Phe487=)
|
rs374646299
|
0.00059
|
NM_024426.6(WT1):c.*513C>T
|
rs575602262
|
0.00059
|
NM_004646.4(NPHS1):c.151C>T (p.Leu51=)
|
rs114385015
|
0.00057
|
NM_004646.4(NPHS1):c.1619C>A (p.Ala540Glu)
|
rs149598144
|
0.00051
|
NM_024426.6(WT1):c.-110C>T
|
rs886048241
|
0.00048
|
NM_024426.6(WT1):c.1131T>C (p.Pro377=)
|
rs151034312
|
0.00047
|
NM_016341.4(PLCE1):c.633C>T (p.Asp211=)
|
rs201117145
|
0.00046
|
NM_004621.6(TRPC6):c.*575C>A
|
rs200705719
|
0.00044
|
NM_004646.4(NPHS1):c.2869G>C (p.Val957Leu)
|
rs114849139
|
0.00044
|
NM_012120.3(CD2AP):c.-166A>G
|
rs1003986342
|
0.00042
|
NM_016341.4(PLCE1):c.2214+7C>T
|
rs201418194
|
0.00042
|
NM_004646.4(NPHS1):c.1802G>C (p.Gly601Ala)
|
rs114615449
|
0.00041
|
NM_022489.4(INF2):c.*803G>A
|
rs555692643
|
0.00041
|
NM_014625.4(NPHS2):c.709G>C (p.Glu237Gln)
|
rs146906190
|
0.00040
|
NM_012120.3(CD2AP):c.-197C>T
|
rs886061513
|
0.00039
|
NM_024426.6(WT1):c.375C>T (p.Gly125=)
|
rs776209354
|
0.00039
|
NM_004621.6(TRPC6):c.*175A>C
|
rs199878670
|
0.00038
|
NM_004621.6(TRPC6):c.*668G>A
|
rs200307747
|
0.00038
|
NM_016341.4(PLCE1):c.1201T>C (p.Tyr401His)
|
rs201401363
|
0.00035
|
NM_002292.4(LAMB2):c.1305C>T (p.Ser435=)
|
rs144530798
|
0.00034
|
NM_024426.6(WT1):c.*12C>T
|
rs77462662
|
0.00034
|
NM_024426.6(WT1):c.*460C>A
|
rs886048221
|
0.00034
|
NM_002292.4(LAMB2):c.5039C>T (p.Ala1680Val)
|
rs141473691
|
0.00033
|
NM_024426.6(WT1):c.-76T>C
|
rs886048235
|
0.00032
|
NM_002292.4(LAMB2):c.2922G>C (p.Gly974=)
|
rs145465720
|
0.00031
|
NM_004646.4(NPHS1):c.3173C>T (p.Ser1058Leu)
|
rs201503587
|
0.00031
|
NM_004621.6(TRPC6):c.-243C>T
|
rs199601311
|
0.00029
|
NM_016341.4(PLCE1):c.-351T>G
|
rs533595233
|
0.00029
|
NM_024426.6(WT1):c.*1167T>G
|
rs771770230
|
0.00029
|
NM_002292.4(LAMB2):c.4140C>A (p.Asn1380Lys)
|
rs267607207
|
0.00028
|
NM_002292.4(LAMB2):c.5142G>A (p.Lys1714=)
|
rs139511264
|
0.00027
|
NM_004646.4(NPHS1):c.1610C>T (p.Thr537Met)
|
rs368913905
|
0.00027
|
NM_024426.6(WT1):c.1182C>T (p.Arg394=)
|
rs147939483
|
0.00027
|
NM_002292.4(LAMB2):c.2322C>G (p.Thr774=)
|
rs142116851
|
0.00026
|
NM_004646.4(NPHS1):c.14C>T (p.Thr5Met)
|
rs191850409
|
0.00026
|
NM_012120.3(CD2AP):c.*2470C>A
|
rs376709257
|
0.00026
|
NM_004621.6(TRPC6):c.-125C>T
|
rs201034657
|
0.00025
|
NM_004646.4(NPHS1):c.-31C>T
|
rs376050812
|
0.00024
|
NM_004621.6(TRPC6):c.374A>G (p.Asn125Ser)
|
rs146776939
|
0.00022
|
NM_004646.4(NPHS1):c.126G>T (p.Thr42=)
|
rs145683325
|
0.00022
|
NM_002292.4(LAMB2):c.5233G>A (p.Ala1745Thr)
|
rs142041381
|
0.00021
|
NM_004646.4(NPHS1):c.*888A>G
|
rs745654494
|
0.00021
|
NM_024426.6(WT1):c.-106C>T
|
rs867975105
|
0.00021
|
NM_002292.4(LAMB2):c.253G>A (p.Glu85Lys)
|
rs140371771
|
0.00020
|
NM_002292.4(LAMB2):c.4149C>A (p.His1383Gln)
|
rs150064487
|
0.00019
|
NM_004646.4(NPHS1):c.1790C>A (p.Ala597Asp)
|
rs548304892
|
0.00019
|
NM_012120.3(CD2AP):c.*762A>G
|
rs1006749024
|
0.00019
|
NM_024426.6(WT1):c.*534C>T
|
rs868546165
|
0.00019
|
NM_024426.6(WT1):c.124G>A (p.Gly42Ser)
|
rs762288656
|
0.00019
|
NM_024426.6(WT1):c.193G>A (p.Gly65Arg)
|
rs374404615
|
0.00019
|
NM_002292.4(LAMB2):c.5109C>T (p.Arg1703=)
|
rs151292828
|
0.00018
|
NM_004621.6(TRPC6):c.*792G>A
|
rs201986308
|
0.00018
|
NM_014625.4(NPHS2):c.790G>C (p.Glu264Gln)
|
rs369697947
|
0.00018
|
NM_016341.4(PLCE1):c.3594C>T (p.Gly1198=)
|
rs149614492
|
0.00018
|
NM_024426.6(WT1):c.*666A>G
|
rs374306749
|
0.00018
|
NM_002292.4(LAMB2):c.1797C>T (p.Phe599=)
|
rs376785056
|
0.00016
|
NM_002292.4(LAMB2):c.4878G>A (p.Arg1626=)
|
rs148648480
|
0.00016
|
NM_012120.3(CD2AP):c.-438C>T
|
rs191920077
|
0.00016
|
NM_014625.4(NPHS2):c.220G>A (p.Gly74Ser)
|
rs200544576
|
0.00016
|
NM_004621.6(TRPC6):c.-143C>T
|
rs886047539
|
0.00015
|
NM_004646.4(NPHS1):c.*757T>C
|
rs552731597
|
0.00015
|
NM_004646.4(NPHS1):c.1183G>A (p.Gly395Ser)
|
rs372069596
|
0.00015
|
NM_004646.4(NPHS1):c.3419G>A (p.Arg1140His)
|
rs369787477
|
0.00015
|
NM_012120.3(CD2AP):c.*492G>A
|
rs866946718
|
0.00015
|
NM_002292.4(LAMB2):c.284G>A (p.Arg95His)
|
rs147691227
|
0.00014
|
NM_002292.4(LAMB2):c.4148A>G (p.His1383Arg)
|
rs754983373
|
0.00014
|
NM_004646.4(NPHS1):c.733A>C (p.Ile245Leu)
|
rs370046047
|
0.00014
|
NM_012120.3(CD2AP):c.*2309T>G
|
rs747110506
|
0.00014
|
NM_016341.4(PLCE1):c.3579C>T (p.His1193=)
|
rs368956195
|
0.00014
|
NM_004646.4(NPHS1):c.*760T>C
|
rs531569980
|
0.00013
|
NM_016341.4(PLCE1):c.3133G>T (p.Ala1045Ser)
|
rs200419008
|
0.00013
|
NM_022489.4(INF2):c.966C>T (p.Ala322=)
|
rs774024906
|
0.00013
|
NM_002292.4(LAMB2):c.1206G>A (p.Arg402=)
|
rs201999373
|
0.00012
|
NM_002292.4(LAMB2):c.1442G>A (p.Ser481Asn)
|
rs144230655
|
0.00012
|
NM_002292.4(LAMB2):c.5286T>C (p.Asn1762=)
|
rs781092208
|
0.00012
|
NM_004646.4(NPHS1):c.*865T>C
|
rs904828636
|
0.00012
|
NM_016341.4(PLCE1):c.5778C>T (p.Phe1926=)
|
rs78828338
|
0.00012
|
NM_024426.6(WT1):c.1017-15T>C
|
rs374441355
|
0.00012
|
NM_002292.4(LAMB2):c.3355G>A (p.Gly1119Ser)
|
rs199570781
|
0.00011
|
NM_004646.4(NPHS1):c.3275G>A (p.Arg1092His)
|
rs144203682
|
0.00011
|
NM_012120.3(CD2AP):c.182C>T (p.Thr61Met)
|
rs142628238
|
0.00011
|
NM_016341.4(PLCE1):c.1389G>A (p.Ser463=)
|
rs750894632
|
0.00011
|
NM_004646.4(NPHS1):c.*250G>A
|
rs117894015
|
0.00010
|
NM_004646.4(NPHS1):c.492C>T (p.Asp164=)
|
rs147569168
|
0.00010
|
NM_014625.4(NPHS2):c.274+14A>G
|
rs757829667
|
0.00010
|
NM_014625.4(NPHS2):c.671G>A (p.Arg224His)
|
rs138545216
|
0.00010
|
NM_016341.4(PLCE1):c.*219C>G
|
rs376587612
|
0.00010
|
NM_016341.4(PLCE1):c.3335A>G (p.His1112Arg)
|
rs775231257
|
0.00010
|
NM_002292.4(LAMB2):c.2639A>G (p.Asn880Ser)
|
rs781619412
|
0.00009
|
NM_004621.6(TRPC6):c.*1380G>A
|
rs747229991
|
0.00009
|
NM_004646.4(NPHS1):c.3455C>T (p.Thr1152Met)
|
rs143145248
|
0.00009
|
NM_004646.4(NPHS1):c.888G>A (p.Ala296=)
|
rs531224038
|
0.00009
|
NM_016341.4(PLCE1):c.-459G>A
|
rs1045456355
|
0.00009
|
NM_016341.4(PLCE1):c.-63C>T
|
rs921038961
|
0.00009
|
NM_016341.4(PLCE1):c.3990C>T (p.Asn1330=)
|
rs368399893
|
0.00009
|
NM_022489.4(INF2):c.1197C>T (p.His399=)
|
rs746493706
|
0.00009
|
NM_022489.4(INF2):c.3654C>T (p.Thr1218=)
|
rs557462297
|
0.00009
|
NM_024426.6(WT1):c.381C>G (p.Pro127=)
|
rs771681406
|
0.00009
|
NM_002292.4(LAMB2):c.2489-7C>T
|
rs374958213
|
0.00008
|
NM_004646.4(NPHS1):c.1315+7C>T
|
rs370645778
|
0.00008
|
NM_004646.4(NPHS1):c.3130G>A (p.Glu1044Lys)
|
rs370387270
|
0.00008
|
NM_004646.4(NPHS1):c.3545C>T (p.Thr1182Met)
|
rs143003940
|
0.00008
|
NM_002292.4(LAMB2):c.2295C>T (p.Cys765=)
|
rs201289156
|
0.00007
|
NM_002292.4(LAMB2):c.795G>A (p.Glu265=)
|
rs375953746
|
0.00007
|
NM_012120.3(CD2AP):c.*706A>G
|
rs889531551
|
0.00007
|
NM_016341.4(PLCE1):c.296C>T (p.Ala99Val)
|
rs761055810
|
0.00007
|
NM_016341.4(PLCE1):c.3183C>T (p.Pro1061=)
|
rs367640320
|
0.00007
|
NM_022489.4(INF2):c.597C>T (p.Ser199=)
|
rs372269719
|
0.00007
|
NM_024426.6(WT1):c.*159G>C
|
rs746218880
|
0.00007
|
NM_024426.6(WT1):c.*574del
|
rs5030319
|
0.00007
|
NM_024426.6(WT1):c.1017-9T>C
|
rs368486676
|
0.00007
|
NM_024426.6(WT1):c.1020C>T (p.His340=)
|
rs375114529
|
0.00007
|
NM_002292.4(LAMB2):c.*92A>G
|
rs886058670
|
0.00006
|
NM_002292.4(LAMB2):c.1750C>A (p.Arg584Ser)
|
rs369408727
|
0.00006
|
NM_002292.4(LAMB2):c.2099G>A (p.Gly700Glu)
|
rs142860588
|
0.00006
|
NM_002292.4(LAMB2):c.280C>T (p.Arg94Trp)
|
rs754551568
|
0.00006
|
NM_002292.4(LAMB2):c.3232C>T (p.Arg1078Cys)
|
rs143284092
|
0.00006
|
NM_002292.4(LAMB2):c.3498A>G (p.Pro1166=)
|
rs186771094
|
0.00006
|
NM_002292.4(LAMB2):c.385+5G>A
|
rs540191089
|
0.00006
|
NM_002292.4(LAMB2):c.915+6G>A
|
rs2071677
|
0.00006
|
NM_004646.4(NPHS1):c.115G>A (p.Glu39Lys)
|
rs375670819
|
0.00006
|
NM_004646.4(NPHS1):c.2469G>A (p.Ala823=)
|
rs371646734
|
0.00006
|
NM_004646.4(NPHS1):c.25G>A (p.Ala9Thr)
|
rs376793744
|
0.00006
|
NM_004646.4(NPHS1):c.3311+14T>C
|
rs375587420
|
0.00006
|
NM_016341.4(PLCE1):c.2635C>T (p.Arg879Cys)
|
rs372756642
|
0.00006
|
NM_016341.4(PLCE1):c.3184G>A (p.Gly1062Arg)
|
rs773093424
|
0.00006
|
NM_016341.4(PLCE1):c.6446C>T (p.Pro2149Leu)
|
rs192586920
|
0.00006
|
NM_016341.4(PLCE1):c.6691T>C (p.Phe2231Leu)
|
rs376129110
|
0.00006
|
NM_022489.4(INF2):c.*447A>T
|
rs749782054
|
0.00006
|
NM_022489.4(INF2):c.1448C>T (p.Ser483Phe)
|
rs753188664
|
0.00006
|
NM_024426.6(WT1):c.-140C>T
|
rs886048244
|
0.00006
|
NM_024426.6(WT1):c.162C>G (p.Ser54Arg)
|
rs776954184
|
0.00006
|
NM_024426.6(WT1):c.696C>T (p.Ser232=)
|
rs9332974
|
0.00006
|
NM_024426.6(WT1):c.785G>A (p.Gly262Asp)
|
rs372225738
|
0.00006
|
NM_002292.4(LAMB2):c.3324C>T (p.Asn1108=)
|
rs757491995
|
0.00005
|
NM_002292.4(LAMB2):c.386-15C>T
|
rs117575041
|
0.00005
|
NM_004621.6(TRPC6):c.1612G>A (p.Ala538Thr)
|
rs753943966
|
0.00005
|
NM_004646.4(NPHS1):c.3027C>T (p.Tyr1009=)
|
rs762184939
|
0.00005
|
NM_012120.3(CD2AP):c.*866C>T
|
rs886061539
|
0.00005
|
NM_016341.4(PLCE1):c.2184G>A (p.Pro728=)
|
rs760049549
|
0.00005
|
NM_016341.4(PLCE1):c.634G>A (p.Asp212Asn)
|
rs776583769
|
0.00005
|
NM_016341.4(PLCE1):c.72G>A (p.Ser24=)
|
rs558409444
|
0.00005
|
NM_022489.4(INF2):c.*311T>A
|
rs975205957
|
0.00005
|
NM_022489.4(INF2):c.2440G>A (p.Asp814Asn)
|
rs373532334
|
0.00005
|
NM_002292.3(LAMB2):c.-241T>C
|
rs886058680
|
0.00004
|
NM_002292.4(LAMB2):c.1391G>A (p.Arg464His)
|
rs188487818
|
0.00004
|
NM_002292.4(LAMB2):c.2089C>T (p.Arg697Trp)
|
rs149304508
|
0.00004
|
NM_002292.4(LAMB2):c.2262G>A (p.Leu754=)
|
rs756931255
|
0.00004
|
NM_002292.4(LAMB2):c.4043A>G (p.Asn1348Ser)
|
rs771215576
|
0.00004
|
NM_002292.4(LAMB2):c.4369C>T (p.Arg1457Trp)
|
rs151037751
|
0.00004
|
NM_002292.4(LAMB2):c.5021G>A (p.Arg1674Gln)
|
rs764128779
|
0.00004
|
NM_004621.6(TRPC6):c.-205C>T
|
rs533735159
|
0.00004
|
NM_004621.6(TRPC6):c.-343C>G
|
rs200074836
|
0.00004
|
NM_004621.6(TRPC6):c.375C>T (p.Asn125=)
|
rs201643083
|
0.00004
|
NM_004646.4(NPHS1):c.1822G>A (p.Val608Ile)
|
rs367976914
|
0.00004
|
NM_004646.4(NPHS1):c.2961T>C (p.Tyr987=)
|
rs201263480
|
0.00004
|
NM_004646.4(NPHS1):c.3388-14C>T
|
rs371907999
|
0.00004
|
NM_004646.4(NPHS1):c.3687C>T (p.Pro1229=)
|
rs116744687
|
0.00004
|
NM_004646.4(NPHS1):c.427G>C (p.Glu143Gln)
|
rs540253444
|
0.00004
|
NM_012120.3(CD2AP):c.*166A>G
|
rs567422637
|
0.00004
|
NM_012120.3(CD2AP):c.*2232C>T
|
rs886061548
|
0.00004
|
NM_014625.4(NPHS2):c.874-13A>G
|
rs377374469
|
0.00004
|
NM_016341.4(PLCE1):c.1090A>G (p.Ile364Val)
|
rs372621219
|
0.00004
|
NM_016341.4(PLCE1):c.1180C>T (p.Arg394Cys)
|
rs761213168
|
0.00004
|
NM_016341.4(PLCE1):c.1496G>A (p.Arg499His)
|
rs757336023
|
0.00004
|
NM_016341.4(PLCE1):c.174C>T (p.Asn58=)
|
rs761575973
|
0.00004
|
NM_016341.4(PLCE1):c.2164G>A (p.Gly722Ser)
|
rs200013667
|
0.00004
|
NM_016341.4(PLCE1):c.3719A>G (p.Tyr1240Cys)
|
rs975453016
|
0.00004
|
NM_016341.4(PLCE1):c.5840C>T (p.Ala1947Val)
|
rs763348713
|
0.00004
|
NM_024426.6(WT1):c.*239G>A
|
rs886048226
|
0.00004
|
NM_024426.6(WT1):c.813G>C (p.Pro271=)
|
rs1341857958
|
0.00004
|
NM_002292.4(LAMB2):c.1423C>T (p.Arg475Trp)
|
rs144487632
|
0.00003
|
NM_002292.4(LAMB2):c.2219G>A (p.Arg740His)
|
rs781721930
|
0.00003
|
NM_002292.4(LAMB2):c.2459A>T (p.Tyr820Phe)
|
rs746761674
|
0.00003
|
NM_002292.4(LAMB2):c.2774G>A (p.Arg925Gln)
|
rs536235346
|
0.00003
|
NM_002292.4(LAMB2):c.4011T>C (p.His1337=)
|
rs886058671
|
0.00003
|
NM_002292.4(LAMB2):c.76+10C>T
|
rs370554848
|
0.00003
|
NM_004621.6(TRPC6):c.*1386C>G
|
rs375701506
|
0.00003
|
NM_004621.6(TRPC6):c.2508T>C (p.Ser836=)
|
rs377172208
|
0.00003
|
NM_004621.6(TRPC6):c.304T>A (p.Phe102Ile)
|
rs201363468
|
0.00003
|
NM_004646.4(NPHS1):c.*483G>A
|
rs199649890
|
0.00003
|
NM_004646.4(NPHS1):c.1378C>T (p.Arg460Trp)
|
rs749319334
|
0.00003
|
NM_004646.4(NPHS1):c.2705G>A (p.Ser902Asn)
|
rs749246924
|
0.00003
|
NM_004646.4(NPHS1):c.2916G>T (p.Arg972Ser)
|
rs374762054
|
0.00003
|
NM_004646.4(NPHS1):c.3206T>C (p.Leu1069Pro)
|
rs756273676
|
0.00003
|
NM_004646.4(NPHS1):c.428A>T (p.Glu143Val)
|
rs781117481
|
0.00003
|
NM_012120.3(CD2AP):c.*2037C>G
|
rs886061544
|
0.00003
|
NM_012120.3(CD2AP):c.*2705A>G
|
rs775329134
|
0.00003
|
NM_012120.3(CD2AP):c.*297T>A
|
rs1044619698
|
0.00003
|
NM_014625.4(NPHS2):c.*340C>A
|
rs886045595
|
0.00003
|
NM_014625.4(NPHS2):c.148C>T (p.Arg50Trp)
|
rs886045596
|
0.00003
|
NM_014625.4(NPHS2):c.17G>A (p.Arg6Gln)
|
rs760885607
|
0.00003
|
NM_014625.4(NPHS2):c.872G>A (p.Arg291Gln)
|
rs751767084
|
0.00003
|
NM_016341.4(PLCE1):c.1223G>T (p.Arg408Ile)
|
rs752029771
|
0.00003
|
NM_016341.4(PLCE1):c.1698T>A (p.Pro566=)
|
rs377307234
|
0.00003
|
NM_016341.4(PLCE1):c.323A>G (p.Asn108Ser)
|
rs886047493
|
0.00003
|
NM_016341.4(PLCE1):c.3583C>T (p.Arg1195Trp)
|
rs747635422
|
0.00003
|
NM_016341.4(PLCE1):c.4412G>A (p.Arg1471His)
|
rs199793703
|
0.00003
|
NM_016341.4(PLCE1):c.5607A>G (p.Ala1869=)
|
rs536348835
|
0.00003
|
NM_022489.4(INF2):c.*314G>A
|
rs921070326
|
0.00003
|
NM_022489.4(INF2):c.2201T>G (p.Val734Gly)
|
rs754128624
|
0.00003
|
NM_022489.4(INF2):c.2847G>A (p.Ala949=)
|
rs754546219
|
0.00003
|
NM_024426.6(WT1):c.1124G>A (p.Arg375His)
|
rs554416372
|
0.00003
|
NM_002292.4(LAMB2):c.2296G>A (p.Ala766Thr)
|
rs763101025
|
0.00002
|
NM_002292.4(LAMB2):c.2810G>A (p.Arg937Gln)
|
rs201235061
|
0.00002
|
NM_002292.4(LAMB2):c.2870G>A (p.Arg957Gln)
|
rs764846938
|
0.00002
|
NM_002292.4(LAMB2):c.3115A>C (p.Thr1039Pro)
|
rs747604203
|
0.00002
|
NM_002292.4(LAMB2):c.3273T>C (p.Gly1091=)
|
rs369406683
|
0.00002
|
NM_002292.4(LAMB2):c.3837C>T (p.Leu1279=)
|
rs775950352
|
0.00002
|
NM_002292.4(LAMB2):c.991C>T (p.Leu331=)
|
rs561241970
|
0.00002
|
NM_004621.6(TRPC6):c.1057C>T (p.Leu353Phe)
|
rs775521973
|
0.00002
|
NM_004621.6(TRPC6):c.2574A>C (p.Ile858=)
|
rs751323115
|
0.00002
|
NM_004646.4(NPHS1):c.*958G>T
|
rs886054344
|
0.00002
|
NM_004646.4(NPHS1):c.2516A>T (p.Gln839Leu)
|
rs1442536181
|
0.00002
|
NM_004646.4(NPHS1):c.319G>A (p.Ala107Thr)
|
rs386833933
|
0.00002
|
NM_004646.4(NPHS1):c.485C>G (p.Ser162Cys)
|
rs376172729
|
0.00002
|
NM_012120.3(CD2AP):c.221G>T (p.Arg74Met)
|
rs758523796
|
0.00002
|
NM_014625.4(NPHS2):c.*199C>T
|
rs1278242986
|
0.00002
|
NM_014625.4(NPHS2):c.724G>A (p.Ala242Thr)
|
rs201355305
|
0.00002
|
NM_016341.4(PLCE1):c.-468A>G
|
rs886047490
|
0.00002
|
NM_016341.4(PLCE1):c.3215A>G (p.Asn1072Ser)
|
rs764019766
|
0.00002
|
NM_016341.4(PLCE1):c.3980T>G (p.Leu1327Arg)
|
rs1345048932
|
0.00002
|
NM_022489.4(INF2):c.18C>T (p.Gly6=)
|
rs1032255653
|
0.00002
|
NM_022489.4(INF2):c.2775+13G>A
|
rs759589756
|
0.00002
|
NM_022489.4(INF2):c.3703C>T (p.Pro1235Ser)
|
rs201091360
|
0.00002
|
NM_024426.6(WT1):c.*110C>T
|
rs757474299
|
0.00002
|
NM_024426.6(WT1):c.*785C>A
|
rs886048214
|
0.00002
|
NM_024426.6(WT1):c.587G>A (p.Gly196Asp)
|
rs753112302
|
0.00002
|
NM_024426.6(WT1):c.887+4G>A
|
rs778673400
|
0.00002
|
NM_002292.4(LAMB2):c.1357C>T (p.Arg453Cys)
|
rs765252703
|
0.00001
|
NM_002292.4(LAMB2):c.2435G>A (p.Arg812His)
|
rs886058674
|
0.00001
|
NM_002292.4(LAMB2):c.2506G>A (p.Glu836Lys)
|
rs547498421
|
0.00001
|
NM_002292.4(LAMB2):c.2720+13C>A
|
rs369359244
|
0.00001
|
NM_002292.4(LAMB2):c.3109+13G>C
|
rs750600086
|
0.00001
|
NM_002292.4(LAMB2):c.3547A>G (p.Ile1183Val)
|
rs370877359
|
0.00001
|
NM_002292.4(LAMB2):c.3664G>C (p.Gly1222Arg)
|
rs748563846
|
0.00001
|
NM_002292.4(LAMB2):c.4482C>T (p.Ala1494=)
|
rs199894011
|
0.00001
|
NM_002292.4(LAMB2):c.4489A>G (p.Lys1497Glu)
|
rs771769006
|
0.00001
|
NM_002292.4(LAMB2):c.4954G>A (p.Ala1652Thr)
|
rs1294654447
|
0.00001
|
NM_004621.6(TRPC6):c.*1020G>A
|
rs201292926
|
0.00001
|
NM_004621.6(TRPC6):c.-276G>A
|
rs1015092035
|
0.00001
|
NM_004621.6(TRPC6):c.-35G>A
|
rs886047538
|
0.00001
|
NM_004621.6(TRPC6):c.-406C>A
|
rs886047542
|
0.00001
|
NM_004621.6(TRPC6):c.18G>A (p.Ala6=)
|
rs891868712
|
0.00001
|
NM_004621.6(TRPC6):c.1928T>C (p.Met643Thr)
|
rs773581652
|
0.00001
|
NM_004621.6(TRPC6):c.2009+1G>A
|
rs199611561
|
0.00001
|
NM_004621.6(TRPC6):c.2410-11A>G
|
rs886047537
|
0.00001
|
NM_004621.6(TRPC6):c.642A>G (p.Thr214=)
|
rs369124216
|
0.00001
|
NM_004646.4(NPHS1):c.*1021G>A
|
rs536792618
|
0.00001
|
NM_004646.4(NPHS1):c.*419C>T
|
rs1028142337
|
0.00001
|
NM_004646.4(NPHS1):c.*765C>T
|
rs1342655151
|
0.00001
|
NM_004646.4(NPHS1):c.1196T>C (p.Met399Thr)
|
rs781420585
|
0.00001
|
NM_004646.4(NPHS1):c.1297C>T (p.Leu433Phe)
|
rs730880173
|
0.00001
|
NM_004646.4(NPHS1):c.1342G>C (p.Gly448Arg)
|
rs1402815412
|
0.00001
|
NM_004646.4(NPHS1):c.1440+11C>T
|
rs750251097
|
0.00001
|
NM_004646.4(NPHS1):c.1598T>C (p.Leu533Pro)
|
rs886054351
|
0.00001
|
NM_004646.4(NPHS1):c.1871G>T (p.Arg624Leu)
|
rs1261220304
|
0.00001
|
NM_004646.4(NPHS1):c.1899C>T (p.Thr633=)
|
rs748680209
|
0.00001
|
NM_004646.4(NPHS1):c.218C>T (p.Pro73Leu)
|
rs752777463
|
0.00001
|
NM_004646.4(NPHS1):c.2285C>T (p.Thr762Ile)
|
rs944539025
|
0.00001
|
NM_004646.4(NPHS1):c.2507-14C>T
|
rs777015846
|
0.00001
|
NM_004646.4(NPHS1):c.2686C>G (p.Gln896Glu)
|
rs771594710
|
0.00001
|
NM_004646.4(NPHS1):c.2905C>T (p.Leu969=)
|
rs368639377
|
0.00001
|
NM_004646.4(NPHS1):c.3337G>A (p.Glu1113Lys)
|
rs760440966
|
0.00001
|
NM_004646.4(NPHS1):c.3667G>A (p.Asp1223Asn)
|
rs1350146301
|
0.00001
|
NM_004646.4(NPHS1):c.895C>T (p.Arg299Cys)
|
rs753476209
|
0.00001
|
NM_004646.4(NPHS1):c.916G>A (p.Val306Met)
|
rs769719915
|
0.00001
|
NM_012120.3(CD2AP):c.*1927T>G
|
rs886061543
|
0.00001
|
NM_012120.3(CD2AP):c.*2445C>T
|
rs886061550
|
0.00001
|
NM_012120.3(CD2AP):c.*2548G>A
|
rs748856071
|
0.00001
|
NM_012120.3(CD2AP):c.-324G>C
|
rs886061512
|
0.00001
|
NM_012120.3(CD2AP):c.1164A>C (p.Pro388=)
|
rs933322359
|
0.00001
|
NM_012120.3(CD2AP):c.326A>G (p.Lys109Arg)
|
rs886061518
|
0.00001
|
NM_012120.3(CD2AP):c.400A>G (p.Ile134Val)
|
rs747832531
|
0.00001
|
NM_012120.3(CD2AP):c.675G>A (p.Val225=)
|
rs908328150
|
0.00001
|
NM_012120.3(CD2AP):c.757A>G (p.Lys253Glu)
|
rs1034978918
|
0.00001
|
NM_012120.3(CD2AP):c.846T>C (p.Gly282=)
|
rs931802678
|
0.00001
|
NM_014625.4(NPHS2):c.*422T>C
|
rs948895607
|
0.00001
|
NM_014625.4(NPHS2):c.120G>A (p.Glu40=)
|
rs1183621605
|
0.00001
|
NM_014625.4(NPHS2):c.451+15T>C
|
rs762248387
|
0.00001
|
NM_014625.4(NPHS2):c.873+11C>T
|
rs372303141
|
0.00001
|
NM_016341.4(PLCE1):c.*390A>G
|
rs886047507
|
0.00001
|
NM_016341.4(PLCE1):c.-257G>T
|
rs2061542306
|
0.00001
|
NM_016341.4(PLCE1):c.-48C>G
|
rs554052819
|
0.00001
|
NM_016341.4(PLCE1):c.-640C>T
|
rs1270265043
|
0.00001
|
NM_016341.4(PLCE1):c.1569C>T (p.Ile523=)
|
rs2047966560
|
0.00001
|
NM_016341.4(PLCE1):c.1642C>T (p.Arg548Cys)
|
rs369152754
|
0.00001
|
NM_016341.4(PLCE1):c.2323C>T (p.Arg775Trp)
|
rs761776701
|
0.00001
|
NM_016341.4(PLCE1):c.2770G>A (p.Gly924Ser)
|
rs758463243
|
0.00001
|
NM_016341.4(PLCE1):c.2827G>T (p.Ala943Ser)
|
rs773857638
|
0.00001
|
NM_016341.4(PLCE1):c.2842C>T (p.His948Tyr)
|
rs757606247
|
0.00001
|
NM_016341.4(PLCE1):c.3098A>C (p.Glu1033Ala)
|
rs2050907070
|
0.00001
|
NM_016341.4(PLCE1):c.3876G>A (p.Ser1292=)
|
rs886047501
|
0.00001
|
NM_016341.4(PLCE1):c.4341G>A (p.Met1447Ile)
|
rs766196444
|
0.00001
|
NM_016341.4(PLCE1):c.441G>A (p.Lys147=)
|
rs758420946
|
0.00001
|
NM_016341.4(PLCE1):c.4447A>G (p.Ile1483Val)
|
rs886047503
|
0.00001
|
NM_016341.4(PLCE1):c.459A>G (p.Gln153=)
|
rs886047494
|
0.00001
|
NM_016341.4(PLCE1):c.4810G>T (p.Asp1604Tyr)
|
rs765634224
|
0.00001
|
NM_016341.4(PLCE1):c.5035+6A>G
|
rs745620771
|
0.00001
|
NM_016341.4(PLCE1):c.5139A>T (p.Thr1713=)
|
rs747614650
|
0.00001
|
NM_016341.4(PLCE1):c.5175T>C (p.Cys1725=)
|
rs752359550
|
0.00001
|
NM_016341.4(PLCE1):c.5274G>A (p.Ser1758=)
|
rs575233796
|
0.00001
|
NM_016341.4(PLCE1):c.6720+10A>G
|
rs752683058
|
0.00001
|
NM_016341.4(PLCE1):c.673A>G (p.Lys225Glu)
|
rs774497694
|
0.00001
|
NM_016341.4(PLCE1):c.927T>C (p.Asp309=)
|
rs764907675
|
0.00001
|
NM_022489.4(INF2):c.*153C>T
|
rs899450753
|
0.00001
|
NM_022489.4(INF2):c.*232G>A
|
rs886050384
|
0.00001
|
NM_022489.4(INF2):c.*289G>A
|
rs755170084
|
0.00001
|
NM_022489.4(INF2):c.*358C>T
|
rs1312922081
|
0.00001
|
NM_022489.4(INF2):c.*815C>T
|
rs886050385
|
0.00001
|
NM_022489.4(INF2):c.1777G>A (p.Glu593Lys)
|
rs775320095
|
0.00001
|
NM_022489.4(INF2):c.2389C>T (p.Arg797Cys)
|
rs941477086
|
0.00001
|
NM_022489.4(INF2):c.2415G>A (p.Leu805=)
|
rs779751728
|
0.00001
|
NM_022489.4(INF2):c.2701G>A (p.Ala901Thr)
|
rs775349897
|
0.00001
|
NM_022489.4(INF2):c.2987C>T (p.Thr996Ile)
|
rs377414980
|
0.00001
|
NM_022489.4(INF2):c.3190T>C (p.Leu1064=)
|
rs886050383
|
0.00001
|
NM_022489.4(INF2):c.986-14A>G
|
rs774186716
|
0.00001
|
NM_024426.6(WT1):c.*1066T>G
|
rs936717004
|
0.00001
|
NM_024426.6(WT1):c.*611C>T
|
rs886048220
|
0.00001
|
NM_024426.6(WT1):c.*614A>C
|
rs886048219
|
0.00001
|
NM_024426.6(WT1):c.1198T>C (p.Tyr400His)
|
rs746353651
|
0.00001
|
NM_024426.6(WT1):c.1568G>A (p.Ter523=)
|
rs148856160
|
0.00001
|
NM_024426.6(WT1):c.620T>G (p.Leu207Arg)
|
rs1258754686
|
0.00001
|
NM_024426.6(WT1):c.83G>A (p.Gly28Glu)
|
rs751641518
|
0.00001
|
NM_024426.6(WT1):c.973G>A (p.Ala325Thr)
|
rs1712081462
|
0.00001
|
NM_002292.3(LAMB2):c.-200C>T
|
rs886058679
|
|
NM_002292.3(LAMB2):c.-252T>C
|
rs886058681
|
|
NM_002292.3(LAMB2):c.-279A>T
|
rs886058682
|
|
NM_002292.4(LAMB2):c.-12C>A
|
rs768032929
|
|
NM_002292.4(LAMB2):c.-146G>T
|
rs886058678
|
|
NM_002292.4(LAMB2):c.1499G>A (p.Arg500His)
|
rs759499306
|
|
NM_002292.4(LAMB2):c.1831C>T (p.Leu611=)
|
rs886058676
|
|
NM_002292.4(LAMB2):c.2154G>A (p.Leu718=)
|
rs886058675
|
|
NM_002292.4(LAMB2):c.2798C>G (p.Pro933Arg)
|
rs2045396597
|
|
NM_002292.4(LAMB2):c.2884+15del
|
rs769133638
|
|
NM_002292.4(LAMB2):c.3036C>T (p.His1012=)
|
rs777538430
|
|
NM_002292.4(LAMB2):c.3198A>G (p.Pro1066=)
|
rs886058673
|
|
NM_002292.4(LAMB2):c.3425-7C>A
|
rs2045383891
|
|
NM_002292.4(LAMB2):c.3644C>G (p.Ala1215Gly)
|
rs140456179
|
|
NM_002292.4(LAMB2):c.3995G>A (p.Ser1332Asn)
|
rs980152482
|
|
NM_002292.4(LAMB2):c.4007C>T (p.Ala1336Val)
|
rs886058672
|
|
NM_002292.4(LAMB2):c.4134C>T (p.Asp1378=)
|
rs774234171
|
|
NM_002292.4(LAMB2):c.4689C>T (p.Val1563=)
|
rs2045317445
|
|
NM_002292.4(LAMB2):c.478A>G (p.Met160Val)
|
rs2045483964
|
|
NM_002292.4(LAMB2):c.5350C>T (p.Leu1784Phe)
|
rs2045219198
|
|
NM_002292.4(LAMB2):c.539A>G (p.Tyr180Cys)
|
rs1335383406
|
|
NM_002292.4(LAMB2):c.563G>A (p.Gly188Glu)
|
rs2045483102
|
|
NM_002292.4(LAMB2):c.740T>C (p.Val247Ala)
|
rs747693090
|
|
NM_002292.4(LAMB2):c.916-4A>G
|
rs886058677
|
|
NM_004621.6(TRPC6):c.*1032A>G
|
rs1858771912
|
|
NM_004621.6(TRPC6):c.*1147A>G
|
rs1858769601
|
|
NM_004621.6(TRPC6):c.*1176T>C
|
rs886047535
|
|
NM_004621.6(TRPC6):c.*1349T>C
|
rs180930016
|
|
NM_004621.6(TRPC6):c.*147T>C
|
rs868215324
|
|
NM_004621.6(TRPC6):c.*293G>C
|
rs1858789155
|
|
NM_004621.6(TRPC6):c.*507T>A
|
rs202210629
|
|
NM_004621.6(TRPC6):c.*820C>T
|
rs1858777078
|
|
NM_004621.6(TRPC6):c.*821C>T
|
rs886047536
|
|
NM_004621.6(TRPC6):c.*960G>C
|
rs138558920
|
|
NM_004621.6(TRPC6):c.-244T>C
|
rs200535998
|
|
NM_004621.6(TRPC6):c.-264C>G
|
rs1199336137
|
|
NM_004621.6(TRPC6):c.-317C>G
|
rs886047540
|
|
NM_004621.6(TRPC6):c.-344C>G
|
rs867713895
|
|
NM_004621.6(TRPC6):c.-360T>C
|
rs192759166
|
|
NM_004621.6(TRPC6):c.-424G>T
|
rs17096920
|
|
NM_004621.6(TRPC6):c.114G>A (p.Leu38=)
|
rs374371372
|
|
NM_004621.6(TRPC6):c.1344C>A (p.Ala448=)
|
rs554849365
|
|
NM_004621.6(TRPC6):c.1886G>C (p.Arg629Thr)
|
rs775034304
|
|
NM_004621.6(TRPC6):c.1886_1887insC (p.Arg629fs)
|
rs780501413
|
|
NM_004621.6(TRPC6):c.2205+9T>G
|
rs190441617
|
|
NM_004621.6(TRPC6):c.2304G>T (p.Pro768=)
|
rs201608841
|
|
NM_004621.6(TRPC6):c.272G>T (p.Arg91Leu)
|
rs770014593
|
|
NM_004646.4(NPHS1):c.*1040C>T
|
rs181405524
|
|
NM_004646.4(NPHS1):c.*272G>A
|
rs550845716
|
|
NM_004646.4(NPHS1):c.*272G>T
|
rs550845716
|
|
NM_004646.4(NPHS1):c.*488T>C
|
rs886054346
|
|
NM_004646.4(NPHS1):c.*759A>T
|
rs886054345
|
|
NM_004646.4(NPHS1):c.*82G>T
|
rs569295487
|
|
NM_004646.4(NPHS1):c.*962G>A
|
rs1972790629
|
|
NM_004646.4(NPHS1):c.1440+2T>C
|
rs1568455470
|
|
NM_004646.4(NPHS1):c.1799A>G (p.Lys600Arg)
|
rs566516658
|
|
NM_004646.4(NPHS1):c.1861G>A (p.Val621Met)
|
rs886054350
|
|
NM_004646.4(NPHS1):c.1989G>A (p.Glu663=)
|
rs909573287
|
|
NM_004646.4(NPHS1):c.2072C>A (p.Ala691Glu)
|
rs886054349
|
|
NM_004646.4(NPHS1):c.2159A>C (p.His720Pro)
|
rs760911714
|
|
NM_004646.4(NPHS1):c.2201T>G (p.Leu734Arg)
|
rs781209508
|
|
NM_004646.4(NPHS1):c.2334+9C>A
|
rs756158801
|
|
NM_004646.4(NPHS1):c.2436C>G (p.Gly812=)
|
rs768441489
|
|
NM_004646.4(NPHS1):c.2504G>C (p.Arg835Thr)
|
rs1973073113
|
|
NM_004646.4(NPHS1):c.2507-13C>T
|
rs536518140
|
|
NM_004646.4(NPHS1):c.2654A>T (p.Gln885Leu)
|
rs886054348
|
|
NM_004646.4(NPHS1):c.2746G>T (p.Ala916Ser)
|
rs138173172
|
|
NM_004646.4(NPHS1):c.298G>T (p.Ala100Ser)
|
rs1379397351
|
|
NM_004646.4(NPHS1):c.3166+14C>A
|
rs886054347
|
|
NM_004646.4(NPHS1):c.3364G>C (p.Glu1122Gln)
|
rs548792892
|
|
NM_004646.4(NPHS1):c.3555_3574del (p.Ser1186fs)
|
rs767832658
|
|
NM_004646.4(NPHS1):c.3716A>T (p.His1239Leu)
|
rs199961311
|
|
NM_004646.4(NPHS1):c.407A>G (p.Lys136Arg)
|
rs561948671
|
|
NM_004646.4(NPHS1):c.475A>T (p.Asn159Tyr)
|
rs1973238090
|
|
NM_004646.4(NPHS1):c.505C>A (p.Pro169Thr)
|
rs886054353
|
|
NM_004646.4(NPHS1):c.613A>T (p.Thr205Ser)
|
rs1338171450
|
|
NM_004646.4(NPHS1):c.726C>T (p.Pro242=)
|
rs886054352
|
|
NM_004646.4(NPHS1):c.772G>T (p.Gly258Ter)
|
rs1568456335
|
|
NM_012120.3(CD2AP):c.*1606G>A
|
rs886061542
|
|
NM_012120.3(CD2AP):c.*1G>A
|
rs1002943996
|
|
NM_012120.3(CD2AP):c.*2117C>G
|
rs1364938422
|
|
NM_012120.3(CD2AP):c.*2118T>A
|
rs886061546
|
|
NM_012120.3(CD2AP):c.*2321C>G
|
rs956393348
|
|
NM_012120.3(CD2AP):c.*2369G>A
|
rs886061549
|
|
NM_012120.3(CD2AP):c.*2394A>G
|
rs1014136188
|
|
NM_012120.3(CD2AP):c.*2449C>A
|
rs878891637
|
|
NM_012120.3(CD2AP):c.*326T>A
|
rs1769851188
|
|
NM_012120.3(CD2AP):c.*549T>C
|
rs1769867725
|
|
NM_012120.3(CD2AP):c.*652A>G
|
rs886061537
|
|
NM_012120.3(CD2AP):c.*707G>A
|
rs886061538
|
|
NM_012120.3(CD2AP):c.-191G>A
|
rs886061514
|
|
NM_012120.3(CD2AP):c.-329C>T
|
rs886061511
|
|
NM_012120.3(CD2AP):c.-69C>A
|
rs946137629
|
|
NM_012120.3(CD2AP):c.1148C>A (p.Ala383Glu)
|
rs149300022
|
|
NM_012120.3(CD2AP):c.1379del (p.Asp460fs)
|
rs1562050952
|
|
NM_012120.3(CD2AP):c.1594C>T (p.Pro532Ser)
|
rs1332219962
|
|
NM_012120.3(CD2AP):c.1633-6T>A
|
rs886061522
|
|
NM_012120.3(CD2AP):c.401T>A (p.Ile134Asn)
|
rs886061519
|
|
NM_012120.3(CD2AP):c.530A>G (p.Gln177Arg)
|
rs886061520
|
|
NM_012120.3(CD2AP):c.541+14T>A
|
rs766983546
|
|
NM_012120.3(CD2AP):c.542-11T>C
|
rs1768231418
|
|
NM_014625.4(NPHS2):c.*126C>T
|
rs544758616
|
|
NM_014625.4(NPHS2):c.*127G>C
|
rs539042910
|
|
NM_014625.4(NPHS2):c.483C>A (p.Thr161=)
|
rs754520138
|
|
NM_014625.4(NPHS2):c.765T>C (p.Ile255=)
|
rs1673789444
|
|
NM_014625.4(NPHS2):c.875T>C (p.Met292Thr)
|
rs770246605
|
|
NM_016341.4(PLCE1):c.*116T>C
|
rs886047506
|
|
NM_016341.4(PLCE1):c.*196A>C
|
rs2054101184
|
|
NM_016341.4(PLCE1):c.*232A>G
|
rs1367591988
|
|
NM_016341.4(PLCE1):c.-433G>T
|
rs886047491
|
|
NM_016341.4(PLCE1):c.1081T>C (p.Trp361Arg)
|
rs564879389
|
|
NM_016341.4(PLCE1):c.1193C>G (p.Ala398Gly)
|
rs2061573367
|
|
NM_016341.4(PLCE1):c.1290G>A (p.Glu430=)
|
rs867246620
|
|
NM_016341.4(PLCE1):c.1383A>G (p.Ser461=)
|
rs756176410
|
|
NM_016341.4(PLCE1):c.1421C>T (p.Thr474Ile)
|
rs886047499
|
|
NM_016341.4(PLCE1):c.1807G>A (p.Glu603Lys)
|
rs554159388
|
|
NM_016341.4(PLCE1):c.1927G>A (p.Ala643Thr)
|
rs61886330
|
|
NM_016341.4(PLCE1):c.1927G>T (p.Ala643Ser)
|
rs61886330
|
|
NM_016341.4(PLCE1):c.2032A>G (p.Met678Val)
|
rs201422605
|
|
NM_016341.4(PLCE1):c.227C>A (p.Ala76Glu)
|
rs61749238
|
|
NM_016341.4(PLCE1):c.2598G>C (p.Thr866=)
|
rs368426208
|
|
NM_016341.4(PLCE1):c.2864C>G (p.Thr955Ser)
|
rs780213480
|
|
NM_016341.4(PLCE1):c.3279+4G>T
|
rs886047500
|
|
NM_016341.4(PLCE1):c.3281G>C (p.Gly1094Ala)
|
rs61732523
|
|
NM_016341.4(PLCE1):c.3281G>T (p.Gly1094Val)
|
rs61732523
|
|
NM_016341.4(PLCE1):c.3449A>G (p.His1150Arg)
|
rs778868001
|
|
NM_016341.4(PLCE1):c.3930T>C (p.Asn1310=)
|
rs2051341070
|
|
NM_016341.4(PLCE1):c.4050C>T (p.Ile1350=)
|
rs2051346272
|
|
NM_016341.4(PLCE1):c.4127A>T (p.Asp1376Val)
|
rs2051493957
|
|
NM_016341.4(PLCE1):c.4165G>A (p.Glu1389Lys)
|
rs886047502
|
|
NM_016341.4(PLCE1):c.4341G>C (p.Met1447Ile)
|
rs766196444
|
|
NM_016341.4(PLCE1):c.4435C>T (p.Leu1479=)
|
rs958946520
|
|
NM_016341.4(PLCE1):c.4507-10T>A
|
rs771160105
|
|
NM_016341.4(PLCE1):c.4724G>A (p.Arg1575Gln)
|
rs2274224
|
|
NM_016341.4(PLCE1):c.4733A>T (p.Asn1578Ile)
|
rs61732525
|
|
NM_016341.4(PLCE1):c.4924G>A (p.Asp1642Asn)
|
rs886047504
|
|
NM_016341.4(PLCE1):c.5099T>C (p.Ile1700Thr)
|
rs886047505
|
|
NM_016341.4(PLCE1):c.5168-6G>T
|
rs148239915
|
|
NM_016341.4(PLCE1):c.5313G>T (p.Arg1771Ser)
|
rs781690094
|
|
NM_016341.4(PLCE1):c.576A>C (p.Glu192Asp)
|
rs886047495
|
|
NM_016341.4(PLCE1):c.6155T>A (p.Ile2052Asn)
|
rs2053582229
|
|
NM_016341.4(PLCE1):c.6310A>C (p.Met2104Leu)
|
rs760229823
|
|
NM_016341.4(PLCE1):c.6364G>A (p.Val2122Ile)
|
rs528942664
|
|
NM_016341.4(PLCE1):c.6377_6378del (p.Lys2126fs)
|
rs773902333
|
|
NM_016341.4(PLCE1):c.699T>C (p.Tyr233=)
|
rs886047496
|
|
NM_016341.4(PLCE1):c.713T>C (p.Met238Thr)
|
rs1304398531
|
|
NM_016341.4(PLCE1):c.724A>C (p.Lys242Gln)
|
rs886047497
|
|
NM_016341.4(PLCE1):c.748C>A (p.Gln250Lys)
|
rs1193922904
|
|
NM_016341.4(PLCE1):c.950G>A (p.Ser317Asn)
|
rs886047498
|
|
NM_022489.4(INF2):c.*187C>T
|
rs1056002023
|
|
NM_022489.4(INF2):c.*396G>T
|
rs1890456253
|
|
NM_022489.4(INF2):c.*503C>T
|
rs1890461695
|
|
NM_022489.4(INF2):c.-50G>A
|
rs886050379
|
|
NM_022489.4(INF2):c.-88G>C
|
rs551124491
|
|
NM_022489.4(INF2):c.1103A>G (p.Gln368Arg)
|
rs1481694989
|
|
NM_022489.4(INF2):c.1126A>T (p.Thr376Ser)
|
rs376942822
|
|
NM_022489.4(INF2):c.1575C>T (p.Thr525=)
|
rs1417311904
|
|
NM_022489.4(INF2):c.2009A>G (p.Glu670Gly)
|
rs886050381
|
|
NM_022489.4(INF2):c.2022A>T (p.Gln674His)
|
rs886050382
|
|
NM_022489.4(INF2):c.2709G>C (p.Gln903His)
|
rs762803590
|
|
NM_022489.4(INF2):c.3361C>G (p.Pro1121Ala)
|
rs1248997686
|
|
NM_022489.4(INF2):c.3446G>C (p.Ser1149Thr)
|
rs1890205619
|
|
NM_022489.4(INF2):c.459C>G (p.Tyr153Ter)
|
rs754706068
|
|
NM_022489.4(INF2):c.625G>A (p.Glu209Lys)
|
rs1012899025
|
|
NM_024426.6(WT1):c.*100A>G
|
rs1851738551
|
|
NM_024426.6(WT1):c.*1021GT[14]
|
rs58549495
|
|
NM_024426.6(WT1):c.*1021GT[15]
|
rs58549495
|
|
NM_024426.6(WT1):c.*1021GT[18]
|
rs58549495
|
|
NM_024426.6(WT1):c.*1021GT[19]
|
rs58549495
|
|
NM_024426.6(WT1):c.*1021GT[20]
|
rs58549495
|
|
NM_024426.6(WT1):c.*1058G>T
|
rs886048211
|
|
NM_024426.6(WT1):c.*1225T>C
|
rs886048210
|
|
NM_024426.6(WT1):c.*269G>T
|
rs886048225
|
|
NM_024426.6(WT1):c.*354G>T
|
rs886048224
|
|
NM_024426.6(WT1):c.*366C>A
|
rs886048223
|
|
NM_024426.6(WT1):c.*393G>T
|
rs886048222
|
|
NM_024426.6(WT1):c.*5T>C
|
rs765743928
|
|
NM_024426.6(WT1):c.*629T>C
|
rs1851723085
|
|
NM_024426.6(WT1):c.*685G>T
|
rs886048218
|
|
NM_024426.6(WT1):c.*707C>A
|
rs886048217
|
|
NM_024426.6(WT1):c.*741G>T
|
rs886048216
|
|
NM_024426.6(WT1):c.*768A>C
|
rs886048215
|
|
NM_024426.6(WT1):c.*841C>A
|
rs886048213
|
|
NM_024426.6(WT1):c.-102C>A
|
rs886048240
|
|
NM_024426.6(WT1):c.-114T>A
|
rs886048242
|
|
NM_024426.6(WT1):c.-135G>A
|
rs886048243
|
|
NM_024426.6(WT1):c.-31G>T
|
rs886048234
|
|
NM_024426.6(WT1):c.-82A>C
|
rs886048236
|
|
NM_024426.6(WT1):c.-86T>C
|
rs886048237
|
|
NM_024426.6(WT1):c.-87C>T
|
rs1395440150
|
|
NM_024426.6(WT1):c.-90T>C
|
rs886048238
|
|
NM_024426.6(WT1):c.-94G>C
|
rs886048239
|
|
NM_024426.6(WT1):c.1200C>T (p.Tyr400=)
|
rs886048227
|
|
NM_024426.6(WT1):c.136G>T (p.Ala46Ser)
|
rs886048233
|
|
NM_024426.6(WT1):c.174C>G (p.Leu58=)
|
rs886048232
|
|
NM_024426.6(WT1):c.247G>T (p.Ala83Ser)
|
rs886048231
|
|
NM_024426.6(WT1):c.285C>T (p.Gly95=)
|
rs886048230
|
|
NM_024426.6(WT1):c.298C>G (p.Pro100Ala)
|
rs567200038
|
|
NM_024426.6(WT1):c.313G>T (p.Ala105Ser)
|
rs1236417259
|
|
NM_024426.6(WT1):c.347C>T (p.Pro116Leu)
|
rs886048229
|
|
NM_024426.6(WT1):c.390A>G (p.Pro130=)
|
rs886048228
|
|
NM_024426.6(WT1):c.402G>A (p.Pro134=)
|
rs777527675
|
|
NM_024426.6(WT1):c.695G>C (p.Ser232Thr)
|
rs761913397
|
|