NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln)
|
rs188164241
|
0.00405
|
NM_005465.7(AKT3):c.*5398_*5402dup
|
rs368945100
|
0.00273
|
NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys)
|
rs182369459
|
0.00241
|
NM_001023570.4(IQCB1):c.1549A>T (p.Asn517Tyr)
|
rs139468837
|
0.00237
|
NM_025114.4(CEP290):c.251-11T>A
|
rs200666995
|
0.00198
|
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His)
|
rs183655276
|
0.00187
|
NM_015102.5(NPHP4):c.4179T>A (p.Phe1393Leu)
|
rs35641267
|
0.00163
|
NM_025114.4(CEP290):c.1298A>G (p.Asp433Gly)
|
rs200211587
|
0.00146
|
NM_001023570.4(IQCB1):c.1441G>A (p.Glu481Lys)
|
rs140630401
|
0.00145
|
NM_001128178.3(NPHP1):c.*250C>T
|
rs150558683
|
0.00139
|
NM_001128178.3(NPHP1):c.232T>C (p.Tyr78His)
|
rs140446520
|
0.00127
|
NM_015102.5(NPHP4):c.3911A>G (p.His1304Arg)
|
rs115488133
|
0.00124
|
NM_015102.5(NPHP4):c.800A>T (p.His267Leu)
|
rs201124357
|
0.00124
|
NM_001128178.3(NPHP1):c.803T>C (p.Met268Thr)
|
rs114250691
|
0.00121
|
NM_015102.5(NPHP4):c.3168C>T (p.His1056=)
|
rs376351293
|
0.00121
|
NM_015102.5(NPHP4):c.1024C>T (p.Arg342Cys)
|
rs190940697
|
0.00113
|
NM_014956.5(CEP164):c.4228C>T (p.Gln1410Ter)
|
rs147398904
|
0.00111
|
NM_001023570.4(IQCB1):c.*218G>A
|
rs552311575
|
0.00110
|
NM_015102.5(NPHP4):c.271T>C (p.Phe91Leu)
|
rs201065230
|
0.00109
|
NM_015102.5(NPHP4):c.2653A>C (p.Ser885Arg)
|
rs112206586
|
0.00102
|
NM_015102.5(NPHP4):c.2203C>T (p.Arg735Trp)
|
rs191913664
|
0.00096
|
NM_006642.5(SDCCAG8):c.572C>T (p.Thr191Ile)
|
rs150070966
|
0.00094
|
NM_001128178.3(NPHP1):c.953C>T (p.Thr318Ile)
|
rs140469160
|
0.00088
|
NM_014956.5(CEP164):c.1220C>T (p.Ser407Phe)
|
rs150314805
|
0.00084
|
NM_006642.5(SDCCAG8):c.-130C>A
|
rs547776191
|
0.00072
|
NM_006642.5(SDCCAG8):c.267T>C (p.Ser89=)
|
rs148818431
|
0.00069
|
NM_006642.5(SDCCAG8):c.1474-6C>T
|
rs376414138
|
0.00068
|
NM_015102.5(NPHP4):c.2965G>A (p.Glu989Lys)
|
rs116606479
|
0.00068
|
NM_015102.5(NPHP4):c.3292G>A (p.Ala1098Thr)
|
rs41280798
|
0.00068
|
NM_014956.5(CEP164):c.548T>A (p.Met183Lys)
|
rs144206271
|
0.00067
|
NM_015102.5(NPHP4):c.4141-11C>T
|
rs139203183
|
0.00066
|
NM_015102.5(NPHP4):c.2557G>T (p.Asp853Tyr)
|
rs199875059
|
0.00064
|
NM_025114.4(CEP290):c.1670G>A (p.Arg557His)
|
rs184018899
|
0.00064
|
NM_015102.5(NPHP4):c.2259C>T (p.Asp753=)
|
rs199628481
|
0.00061
|
NM_015102.5(NPHP4):c.4114C>T (p.Leu1372=)
|
rs374146357
|
0.00061
|
NM_025114.4(CEP290):c.226G>A (p.Ala76Thr)
|
rs373913704
|
0.00059
|
NM_015102.4(NPHP4):c.-235G>A
|
rs765435500
|
0.00058
|
NM_015102.5(NPHP4):c.7G>T (p.Asp3Tyr)
|
rs145078518
|
0.00057
|
NM_025114.4(CEP290):c.2306T>C (p.Ile769Thr)
|
rs199583200
|
0.00055
|
NM_025114.4(CEP290):c.1092T>G (p.Ile364Met)
|
rs201988582
|
0.00054
|
NM_015102.5(NPHP4):c.3181G>A (p.Val1061Ile)
|
rs143020939
|
0.00052
|
NM_006642.5(SDCCAG8):c.348C>T (p.His116=)
|
rs143226730
|
0.00051
|
NM_025132.4(WDR19):c.490G>A (p.Val164Ile)
|
rs199514431
|
0.00051
|
NM_025114.4(CEP290):c.2667G>T (p.Leu889Phe)
|
rs142038791
|
0.00049
|
NM_006642.5(SDCCAG8):c.778C>G (p.Leu260Val)
|
rs201869920
|
0.00046
|
NM_001023570.4(IQCB1):c.877-11C>T
|
rs192296154
|
0.00045
|
NM_014956.5(CEP164):c.2662C>G (p.Leu888Val)
|
rs142044303
|
0.00045
|
NM_025114.3(CEP290):c.-235T>G
|
rs569632834
|
0.00045
|
NM_014956.5(CEP164):c.3001C>G (p.Leu1001Val)
|
rs199637319
|
0.00043
|
NM_014956.5(CEP164):c.2339C>T (p.Ser780Leu)
|
rs138384561
|
0.00042
|
NM_015102.5(NPHP4):c.2531C>T (p.Pro844Leu)
|
rs186014615
|
0.00042
|
NM_015102.5(NPHP4):c.1850C>T (p.Ala617Val)
|
rs190522911
|
0.00041
|
NM_001023570.4(IQCB1):c.782T>G (p.Leu261Arg)
|
rs199959360
|
0.00040
|
NM_025114.4(CEP290):c.1360-4T>G
|
rs200328638
|
0.00040
|
NM_001128178.3(NPHP1):c.801G>A (p.Thr267=)
|
rs141763330
|
0.00039
|
NM_006642.5(SDCCAG8):c.2067G>A (p.Leu689=)
|
rs191821211
|
0.00038
|
NM_006642.5(SDCCAG8):c.237T>A (p.Asp79Glu)
|
rs146474568
|
0.00038
|
NM_015650.4(TRAF3IP1):c.685G>A (p.Glu229Lys)
|
rs114489653
|
0.00037
|
NM_001023570.4(IQCB1):c.322C>T (p.Leu108Phe)
|
rs146580215
|
0.00036
|
NM_006642.5(SDCCAG8):c.744C>T (p.Asn248=)
|
rs138449445
|
0.00036
|
NM_015102.5(NPHP4):c.3161G>A (p.Arg1054His)
|
rs369950850
|
0.00036
|
NM_025114.4(CEP290):c.2479C>G (p.Leu827Val)
|
rs201569048
|
0.00036
|
NM_015102.5(NPHP4):c.3612G>A (p.Pro1204=)
|
rs374003717
|
0.00035
|
NM_001023570.4(IQCB1):c.-147del
|
rs886057829
|
0.00034
|
NM_015102.5(NPHP4):c.2485+9C>A
|
rs200952409
|
0.00034
|
NM_015102.5(NPHP4):c.3859C>G (p.Gln1287Glu)
|
rs201779243
|
0.00034
|
NM_015102.5(NPHP4):c.4034G>A (p.Gly1345Asp)
|
rs200407553
|
0.00034
|
NM_001128178.3(NPHP1):c.1469G>A (p.Arg490Lys)
|
rs149887461
|
0.00033
|
NM_015102.5(NPHP4):c.2714G>A (p.Ser905Asn)
|
rs368298952
|
0.00033
|
NM_001023570.4(IQCB1):c.-190C>T
|
rs145282757
|
0.00032
|
NM_014956.5(CEP164):c.1792G>A (p.Ala598Thr)
|
rs150956860
|
0.00032
|
NM_025114.4(CEP290):c.1908A>T (p.Lys636Asn)
|
rs199747962
|
0.00032
|
NM_025114.4(CEP290):c.6116A>G (p.Asp2039Gly)
|
rs192259143
|
0.00032
|
NM_015102.5(NPHP4):c.2115T>C (p.Pro705=)
|
rs200848754
|
0.00031
|
NM_015102.5(NPHP4):c.3110A>C (p.Glu1037Ala)
|
rs200310448
|
0.00031
|
NM_025114.4(CEP290):c.5185C>T (p.Arg1729Trp)
|
rs201353893
|
0.00031
|
NM_006642.5(SDCCAG8):c.-121C>T
|
rs768318766
|
0.00030
|
NM_025114.4(CEP290):c.4250A>G (p.Gln1417Arg)
|
rs201504946
|
0.00030
|
NM_025132.4(WDR19):c.929A>G (p.Tyr310Cys)
|
rs199783864
|
0.00030
|
NM_006642.5(SDCCAG8):c.1276A>G (p.Thr426Ala)
|
rs201580075
|
0.00029
|
NM_006642.5(SDCCAG8):c.964G>A (p.Val322Ile)
|
rs6672843
|
0.00029
|
NM_014956.5(CEP164):c.2206G>A (p.Glu736Lys)
|
rs146053426
|
0.00028
|
NM_015102.5(NPHP4):c.1286G>C (p.Ser429Thr)
|
rs202199543
|
0.00028
|
NM_015102.5(NPHP4):c.3705C>T (p.Arg1235=)
|
rs199925943
|
0.00028
|
NM_015102.5(NPHP4):c.257C>T (p.Pro86Leu)
|
rs201998215
|
0.00027
|
NM_025132.4(WDR19):c.3823C>G (p.Pro1275Ala)
|
rs200670161
|
0.00027
|
NM_001023570.3(IQCB1):c.-215C>T
|
rs541891117
|
0.00026
|
NM_001023570.4(IQCB1):c.*148T>C
|
rs190963373
|
0.00026
|
NM_015102.5(NPHP4):c.3385G>A (p.Val1129Met)
|
rs372934556
|
0.00026
|
NM_025114.3(CEP290):c.-295T>C
|
rs374616539
|
0.00026
|
NM_014956.5(CEP164):c.2356C>T (p.Arg786Trp)
|
rs139225491
|
0.00025
|
NM_014956.5(CEP164):c.3904C>T (p.Pro1302Ser)
|
rs201430651
|
0.00025
|
NM_015102.5(NPHP4):c.1114G>A (p.Gly372Ser)
|
rs188020560
|
0.00025
|
NM_025114.4(CEP290):c.1742A>C (p.Glu581Ala)
|
rs77579747
|
0.00025
|
NM_006642.5(SDCCAG8):c.1068+3A>G
|
rs201388041
|
0.00024
|
NM_014956.5(CEP164):c.2943G>C (p.Glu981Asp)
|
rs112958115
|
0.00024
|
NM_015102.5(NPHP4):c.1127C>T (p.Ser376Leu)
|
rs372414566
|
0.00024
|
NM_015102.5(NPHP4):c.3175G>A (p.Ala1059Thr)
|
rs202004152
|
0.00024
|
NM_015102.5(NPHP4):c.419C>T (p.Pro140Leu)
|
rs370837214
|
0.00024
|
NM_015102.5(NPHP4):c.790G>A (p.Val264Ile)
|
rs772753780
|
0.00024
|
NM_025114.4(CEP290):c.3660G>T (p.Lys1220Asn)
|
rs201982308
|
0.00024
|
NM_025114.4(CEP290):c.6628C>T (p.Arg2210Cys)
|
rs374852145
|
0.00024
|
NM_001128178.3(NPHP1):c.771+89A>G
|
rs139787582
|
0.00023
|
NM_006642.5(SDCCAG8):c.1525C>G (p.Gln509Glu)
|
rs199919586
|
0.00023
|
NM_014956.5(CEP164):c.1502A>G (p.Gln501Arg)
|
rs375085754
|
0.00023
|
NM_014956.5(CEP164):c.2669G>A (p.Arg890His)
|
rs368178224
|
0.00023
|
NM_015102.5(NPHP4):c.3105G>A (p.Pro1035=)
|
rs151151838
|
0.00023
|
NM_025114.4(CEP290):c.2615C>T (p.Ser872Leu)
|
rs373341530
|
0.00023
|
NM_001128178.3(NPHP1):c.771+2C>T
|
rs189320299
|
0.00022
|
NM_014956.5(CEP164):c.1042C>G (p.Pro348Ala)
|
rs147746626
|
0.00022
|
NM_015102.4(NPHP4):c.-236C>T
|
rs185912310
|
0.00022
|
NM_025114.4(CEP290):c.3574-15T>A
|
rs565414938
|
0.00022
|
NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly)
|
rs77778467
|
0.00022
|
NM_014956.5(CEP164):c.1152A>G (p.Gln384=)
|
rs368171178
|
0.00021
|
NM_025114.4(CEP290):c.7276G>A (p.Asp2426Asn)
|
rs200178519
|
0.00021
|
NM_025114.4(CEP290):c.1729C>T (p.Leu577=)
|
rs201295052
|
0.00020
|
NM_025114.4(CEP290):c.6392A>G (p.Glu2131Gly)
|
rs184323010
|
0.00020
|
NM_025132.4(WDR19):c.3308G>A (p.Arg1103Gln)
|
rs567310076
|
0.00020
|
NM_001128178.3(NPHP1):c.867A>G (p.Gln289=)
|
rs371112962
|
0.00019
|
NM_006642.5(SDCCAG8):c.947T>C (p.Met316Thr)
|
rs200461035
|
0.00019
|
NM_015102.5(NPHP4):c.2129G>A (p.Gly710Asp)
|
rs563684894
|
0.00019
|
NM_015102.5(NPHP4):c.2230G>A (p.Val744Met)
|
rs199712626
|
0.00019
|
NM_015102.5(NPHP4):c.3518G>A (p.Arg1173His)
|
rs137932153
|
0.00019
|
NM_025114.4(CEP290):c.-147A>T
|
rs753567406
|
0.00019
|
NM_025114.4(CEP290):c.7015C>T (p.Arg2339Trp)
|
rs200969981
|
0.00019
|
NM_025132.4(WDR19):c.3016A>G (p.Thr1006Ala)
|
rs199678654
|
0.00019
|
NM_001128178.3(NPHP1):c.1721C>T (p.Ser574Leu)
|
rs138181219
|
0.00018
|
NM_001128178.3(NPHP1):c.2007G>A (p.Leu669=)
|
rs151120697
|
0.00018
|
NM_006642.5(SDCCAG8):c.833G>A (p.Arg278His)
|
rs200657425
|
0.00018
|
NM_014956.5(CEP164):c.1316A>T (p.Gln439Leu)
|
rs143370558
|
0.00018
|
NM_014956.5(CEP164):c.338A>G (p.Lys113Arg)
|
rs77118839
|
0.00018
|
NM_015102.5(NPHP4):c.1813G>A (p.Gly605Ser)
|
rs201282741
|
0.00018
|
NM_025114.4(CEP290):c.4360G>A (p.Glu1454Lys)
|
rs369902368
|
0.00018
|
NM_014956.5(CEP164):c.2195C>T (p.Ser732Leu)
|
rs559070007
|
0.00017
|
NM_014956.5(CEP164):c.2255G>A (p.Arg752Lys)
|
rs753614257
|
0.00017
|
NM_014956.5(CEP164):c.4060G>A (p.Asp1354Asn)
|
rs200520898
|
0.00017
|
NM_015102.5(NPHP4):c.3131G>A (p.Arg1044His)
|
rs375819124
|
0.00017
|
NM_025114.4(CEP290):c.384T>C (p.Asp128=)
|
rs76267039
|
0.00017
|
NM_025132.4(WDR19):c.2720C>T (p.Ala907Val)
|
rs201967816
|
0.00017
|
NM_014956.5(CEP164):c.3764G>T (p.Ser1255Ile)
|
rs147414766
|
0.00016
|
NM_015102.5(NPHP4):c.1331G>A (p.Arg444Gln)
|
rs202179978
|
0.00016
|
NM_015102.5(NPHP4):c.2623G>A (p.Val875Met)
|
rs571204647
|
0.00016
|
NM_015102.5(NPHP4):c.2781C>T (p.Ala927=)
|
rs199875603
|
0.00016
|
NM_015102.5(NPHP4):c.2834G>A (p.Arg945His)
|
rs201531378
|
0.00016
|
NM_015102.5(NPHP4):c.467A>G (p.His156Arg)
|
rs199897869
|
0.00016
|
NM_025114.4(CEP290):c.4555A>T (p.Ile1519Leu)
|
rs200817579
|
0.00016
|
NM_025114.4(CEP290):c.523C>A (p.Gln175Lys)
|
rs202159966
|
0.00016
|
NM_001023570.4(IQCB1):c.1153G>C (p.Glu385Gln)
|
rs772153735
|
0.00015
|
NM_015102.5(NPHP4):c.2797C>T (p.Arg933Trp)
|
rs778505641
|
0.00015
|
NM_015102.5(NPHP4):c.3364A>C (p.Thr1122Pro)
|
rs375836844
|
0.00015
|
NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln)
|
rs79436363
|
0.00015
|
NM_001009894.3(RLIG1):c.*594T>C
|
rs376016171
|
0.00014
|
NM_014956.5(CEP164):c.944A>G (p.Glu315Gly)
|
rs144767290
|
0.00014
|
NM_015102.5(NPHP4):c.1445C>T (p.Pro482Leu)
|
rs372565083
|
0.00014
|
NM_015102.5(NPHP4):c.2490C>T (p.His830=)
|
rs549982601
|
0.00014
|
NM_015102.5(NPHP4):c.3352G>A (p.Val1118Met)
|
rs368703067
|
0.00014
|
NM_015102.5(NPHP4):c.4099G>A (p.Asp1367Asn)
|
rs367636423
|
0.00014
|
NM_015102.5(NPHP4):c.902C>T (p.Pro301Leu)
|
rs527701970
|
0.00014
|
NM_006642.5(SDCCAG8):c.1429G>C (p.Glu477Gln)
|
rs556191085
|
0.00013
|
NM_014956.5(CEP164):c.1507G>A (p.Glu503Lys)
|
rs763864742
|
0.00013
|
NM_015102.5(NPHP4):c.-202C>T
|
rs145074678
|
0.00013
|
NM_015102.5(NPHP4):c.1319C>T (p.Ser440Leu)
|
rs749571139
|
0.00013
|
NM_015102.5(NPHP4):c.274A>G (p.Asn92Asp)
|
rs762383978
|
0.00013
|
NM_015102.5(NPHP4):c.3174C>T (p.Thr1058=)
|
rs374354239
|
0.00013
|
NM_015102.5(NPHP4):c.3996+3C>T
|
rs373386232
|
0.00013
|
NM_015102.5(NPHP4):c.868G>T (p.Gly290Cys)
|
rs755124987
|
0.00013
|
NM_025114.4(CEP290):c.1384G>A (p.Val462Ile)
|
rs374199052
|
0.00013
|
NM_025114.4(CEP290):c.5338G>A (p.Val1780Ile)
|
rs368492668
|
0.00013
|
NM_025114.4(CEP290):c.671C>T (p.Thr224Ile)
|
rs200587974
|
0.00013
|
NM_025132.4(WDR19):c.2329A>G (p.Ile777Val)
|
rs373737104
|
0.00013
|
NM_025132.4(WDR19):c.3483+5G>A
|
rs201216969
|
0.00013
|
NM_001128178.3(NPHP1):c.599G>A (p.Gly200Asp)
|
rs373951297
|
0.00012
|
NM_014956.5(CEP164):c.1865G>A (p.Arg622Gln)
|
rs183392900
|
0.00012
|
NM_014956.5(CEP164):c.3392T>C (p.Leu1131Pro)
|
rs1317065002
|
0.00012
|
NM_015102.5(NPHP4):c.1376C>A (p.Thr459Lys)
|
rs371819898
|
0.00012
|
NM_015102.5(NPHP4):c.2603G>A (p.Ser868Asn)
|
rs763576044
|
0.00012
|
NM_025114.4(CEP290):c.31A>G (p.Met11Val)
|
rs185939120
|
0.00012
|
NM_025114.4(CEP290):c.5998A>G (p.Ile2000Val)
|
rs183071230
|
0.00012
|
NM_025114.4(CEP290):c.904A>G (p.Ile302Val)
|
rs764495570
|
0.00012
|
NM_006642.5(SDCCAG8):c.1750G>A (p.Glu584Lys)
|
rs150961792
|
0.00011
|
NM_014956.5(CEP164):c.1313G>A (p.Arg438Gln)
|
rs137987733
|
0.00011
|
NM_014956.5(CEP164):c.4130C>T (p.Pro1377Leu)
|
rs146456836
|
0.00011
|
NM_015102.5(NPHP4):c.2642C>T (p.Ala881Val)
|
rs369335626
|
0.00011
|
NM_015102.5(NPHP4):c.3011C>T (p.Thr1004Met)
|
rs528511138
|
0.00011
|
NM_015102.5(NPHP4):c.3052G>A (p.Val1018Met)
|
rs201433248
|
0.00011
|
NM_025114.4(CEP290):c.2473G>A (p.Glu825Lys)
|
rs779666225
|
0.00011
|
NM_025114.4(CEP290):c.4088G>A (p.Arg1363Gln)
|
rs188502327
|
0.00011
|
NM_025114.4(CEP290):c.6142G>C (p.Gly2048Arg)
|
rs377000187
|
0.00011
|
NM_025114.4(CEP290):c.6572A>T (p.His2191Leu)
|
rs368428115
|
0.00011
|
NM_025114.4(CEP290):c.6629G>A (p.Arg2210His)
|
rs371833544
|
0.00011
|
NM_025132.4(WDR19):c.1796C>T (p.Ala599Val)
|
rs193273000
|
0.00011
|
NM_025132.4(WDR19):c.3029A>G (p.Tyr1010Cys)
|
rs548534755
|
0.00011
|
NM_025132.4(WDR19):c.3683C>G (p.Ala1228Gly)
|
rs201051877
|
0.00011
|
NM_025132.4(WDR19):c.689A>C (p.Asp230Ala)
|
rs202232525
|
0.00011
|
NM_001023570.4(IQCB1):c.1000A>C (p.Lys334Gln)
|
rs532987681
|
0.00010
|
NM_001128178.3(NPHP1):c.805G>A (p.Gly269Arg)
|
rs768608137
|
0.00010
|
NM_006642.5(SDCCAG8):c.1552A>G (p.Arg518Gly)
|
rs770306576
|
0.00010
|
NM_014956.5(CEP164):c.1934+3C>T
|
rs369584565
|
0.00010
|
NM_015102.5(NPHP4):c.-52G>T
|
rs886046468
|
0.00010
|
NM_015102.5(NPHP4):c.1126T>G (p.Ser376Ala)
|
rs199561679
|
0.00010
|
NM_015102.5(NPHP4):c.1541C>T (p.Pro514Leu)
|
rs367694436
|
0.00010
|
NM_015102.5(NPHP4):c.2569C>T (p.Arg857Cys)
|
rs372688518
|
0.00010
|
NM_015102.5(NPHP4):c.3895G>A (p.Gly1299Ser)
|
rs371368653
|
0.00010
|
NM_015102.5(NPHP4):c.4105C>T (p.Pro1369Ser)
|
rs376675995
|
0.00010
|
NM_015102.5(NPHP4):c.870C>T (p.Gly290=)
|
rs749844096
|
0.00010
|
NM_025114.4(CEP290):c.3773A>G (p.Asn1258Ser)
|
rs200830750
|
0.00010
|
NM_025114.4(CEP290):c.4938A>G (p.Lys1646=)
|
rs371582975
|
0.00010
|
NM_025114.4(CEP290):c.5164A>G (p.Thr1722Ala)
|
rs375817905
|
0.00010
|
NM_025114.4(CEP290):c.5284C>T (p.Arg1762Cys)
|
rs373307908
|
0.00010
|
NM_025132.4(WDR19):c.1064A>T (p.Asp355Val)
|
rs192495145
|
0.00010
|
NM_025132.4(WDR19):c.2464A>G (p.Ile822Val)
|
rs138364911
|
0.00010
|
NM_000272.3(NPHP1):c.-54C>T
|
rs777453061
|
0.00009
|
NM_001023570.4(IQCB1):c.*151T>C
|
rs1019317263
|
0.00009
|
NM_001023570.4(IQCB1):c.1123C>A (p.His375Asn)
|
rs137890014
|
0.00009
|
NM_001128178.3(NPHP1):c.493G>A (p.Ala165Thr)
|
rs377676279
|
0.00009
|
NM_001128178.3(NPHP1):c.61A>G (p.Lys21Glu)
|
rs1033790263
|
0.00009
|
NM_006642.5(SDCCAG8):c.160A>T (p.Thr54Ser)
|
rs761616528
|
0.00009
|
NM_006642.5(SDCCAG8):c.220+3G>A
|
rs370361491
|
0.00009
|
NM_006642.5(SDCCAG8):c.244C>T (p.Arg82Cys)
|
rs143447584
|
0.00009
|
NM_006642.5(SDCCAG8):c.784G>C (p.Glu262Gln)
|
rs149038104
|
0.00009
|
NM_006642.5(SDCCAG8):c.832C>T (p.Arg278Cys)
|
rs769004589
|
0.00009
|
NM_006642.5(SDCCAG8):c.944T>C (p.Leu315Ser)
|
rs200294385
|
0.00009
|
NM_014956.5(CEP164):c.2704G>A (p.Val902Met)
|
rs144279354
|
0.00009
|
NM_014956.5(CEP164):c.3234_3236del (p.Ser1081del)
|
rs749738679
|
0.00009
|
NM_014956.5(CEP164):c.3910C>T (p.Arg1304Trp)
|
rs139444171
|
0.00009
|
NM_014956.5(CEP164):c.4025C>T (p.Pro1342Leu)
|
rs531161184
|
0.00009
|
NM_014956.5(CEP164):c.4330C>G (p.Leu1444Val)
|
rs143919649
|
0.00009
|
NM_015102.5(NPHP4):c.1230G>T (p.Gln410His)
|
rs368074369
|
0.00009
|
NM_015102.5(NPHP4):c.1668C>T (p.Thr556=)
|
rs753733095
|
0.00009
|
NM_015102.5(NPHP4):c.176G>A (p.Arg59Gln)
|
rs200128117
|
0.00009
|
NM_015102.5(NPHP4):c.2951C>T (p.Thr984Met)
|
rs377729557
|
0.00009
|
NM_015102.5(NPHP4):c.3046G>A (p.Val1016Ile)
|
rs200702924
|
0.00009
|
NM_015102.5(NPHP4):c.3267C>T (p.Asp1089=)
|
rs187149431
|
0.00009
|
NM_015102.5(NPHP4):c.3445C>T (p.Arg1149Cys)
|
rs201605415
|
0.00009
|
NM_015102.5(NPHP4):c.3770C>T (p.Thr1257Ile)
|
rs746967083
|
0.00009
|
NM_025114.4(CEP290):c.2098C>T (p.His700Tyr)
|
rs369104382
|
0.00009
|
NM_025114.4(CEP290):c.4577A>T (p.Glu1526Val)
|
rs760625332
|
0.00009
|
NM_025114.4(CEP290):c.5055G>A (p.Ala1685=)
|
rs73192874
|
0.00009
|
NM_025114.4(CEP290):c.5421A>G (p.Thr1807=)
|
rs370464321
|
0.00009
|
NM_025132.4(WDR19):c.3967G>A (p.Ala1323Thr)
|
rs563367049
|
0.00009
|
NM_000272.4(NPHP1):c.*460T>A
|
rs960612307
|
0.00008
|
NM_001023570.4(IQCB1):c.-12-4A>T
|
rs760242984
|
0.00008
|
NM_001023570.4(IQCB1):c.1324G>T (p.Ala442Ser)
|
rs780327292
|
0.00008
|
NM_001128178.3(NPHP1):c.1058G>A (p.Arg353His)
|
rs766289967
|
0.00008
|
NM_006642.5(SDCCAG8):c.1123C>A (p.Leu375Ile)
|
rs745634199
|
0.00008
|
NM_006642.5(SDCCAG8):c.430T>G (p.Ser144Ala)
|
rs749010399
|
0.00008
|
NM_014956.5(CEP164):c.1009A>G (p.Ser337Gly)
|
rs151204404
|
0.00008
|
NM_014956.5(CEP164):c.1322A>G (p.Gln441Arg)
|
rs138536460
|
0.00008
|
NM_014956.5(CEP164):c.2858G>A (p.Arg953Gln)
|
rs184333345
|
0.00008
|
NM_014956.5(CEP164):c.457C>T (p.Leu153Phe)
|
rs375118998
|
0.00008
|
NM_015102.5(NPHP4):c.1923C>T (p.Asn641=)
|
rs372430727
|
0.00008
|
NM_015102.5(NPHP4):c.2093C>T (p.Ala698Val)
|
rs745698836
|
0.00008
|
NM_015102.5(NPHP4):c.2723C>T (p.Ser908Leu)
|
rs543726103
|
0.00008
|
NM_025114.4(CEP290):c.4343C>G (p.Pro1448Arg)
|
rs757356455
|
0.00008
|
NM_025114.4(CEP290):c.6986A>G (p.Glu2329Gly)
|
rs772648931
|
0.00008
|
NM_025114.4(CEP290):c.974T>C (p.Ile325Thr)
|
rs769705837
|
0.00008
|
NM_025132.4(WDR19):c.1127T>C (p.Val376Ala)
|
rs773816730
|
0.00008
|
NM_025132.4(WDR19):c.2159A>G (p.Asn720Ser)
|
rs772687020
|
0.00008
|
NM_025132.4(WDR19):c.3436G>A (p.Glu1146Lys)
|
rs779635441
|
0.00008
|
NM_001023570.4(IQCB1):c.1727T>C (p.Ile576Thr)
|
rs150073223
|
0.00007
|
NM_006642.5(SDCCAG8):c.1115C>T (p.Ala372Val)
|
rs74701277
|
0.00007
|
NM_006642.5(SDCCAG8):c.1513C>G (p.Gln505Glu)
|
rs980791573
|
0.00007
|
NM_014956.5(CEP164):c.3268T>C (p.Tyr1090His)
|
rs140470210
|
0.00007
|
NM_014956.5(CEP164):c.3736C>T (p.Arg1246Trp)
|
rs369446103
|
0.00007
|
NM_014956.5(CEP164):c.4091T>A (p.Phe1364Tyr)
|
rs143693029
|
0.00007
|
NM_015102.5(NPHP4):c.2931G>A (p.Thr977=)
|
rs756370084
|
0.00007
|
NM_015102.5(NPHP4):c.3160C>T (p.Arg1054Cys)
|
rs373369949
|
0.00007
|
NM_025114.4(CEP290):c.343A>G (p.Asn115Asp)
|
rs140236736
|
0.00007
|
NM_025114.4(CEP290):c.3778G>A (p.Ala1260Thr)
|
rs375609644
|
0.00007
|
NM_025114.4(CEP290):c.5395T>G (p.Leu1799Val)
|
rs1289111857
|
0.00007
|
NM_025132.4(WDR19):c.1391G>A (p.Arg464His)
|
rs369201153
|
0.00007
|
NM_025132.4(WDR19):c.479A>G (p.Lys160Arg)
|
rs756321262
|
0.00007
|
NM_001023570.4(IQCB1):c.1611C>T (p.Leu537=)
|
rs373762948
|
0.00006
|
NM_001128178.3(NPHP1):c.1761+5A>C
|
rs201030203
|
0.00006
|
NM_001128178.3(NPHP1):c.202A>C (p.Lys68Gln)
|
rs748557384
|
0.00006
|
NM_006642.5(SDCCAG8):c.1018G>T (p.Val340Leu)
|
rs1308863502
|
0.00006
|
NM_006642.5(SDCCAG8):c.1022A>C (p.Lys341Thr)
|
rs145984257
|
0.00006
|
NM_006642.5(SDCCAG8):c.1279A>C (p.Lys427Gln)
|
rs375037219
|
0.00006
|
NM_006642.5(SDCCAG8):c.1790C>A (p.Thr597Lys)
|
rs372641187
|
0.00006
|
NM_006642.5(SDCCAG8):c.233A>G (p.Lys78Arg)
|
rs750977682
|
0.00006
|
NM_006642.5(SDCCAG8):c.245G>A (p.Arg82His)
|
rs577345357
|
0.00006
|
NM_006642.5(SDCCAG8):c.283A>G (p.Arg95Gly)
|
rs377564587
|
0.00006
|
NM_014956.5(CEP164):c.1717C>A (p.Pro573Thr)
|
rs779345917
|
0.00006
|
NM_014956.5(CEP164):c.203T>C (p.Ile68Thr)
|
rs747800943
|
0.00006
|
NM_014956.5(CEP164):c.2153A>T (p.Asn718Ile)
|
rs369322915
|
0.00006
|
NM_014956.5(CEP164):c.2870A>T (p.Gln957Leu)
|
rs757822725
|
0.00006
|
NM_014956.5(CEP164):c.3314C>T (p.Ala1105Val)
|
rs751866377
|
0.00006
|
NM_014956.5(CEP164):c.3869C>T (p.Pro1290Leu)
|
rs377394847
|
0.00006
|
NM_014956.5(CEP164):c.4106C>T (p.Pro1369Leu)
|
rs148116542
|
0.00006
|
NM_015102.5(NPHP4):c.1025G>A (p.Arg342His)
|
rs369550765
|
0.00006
|
NM_015102.5(NPHP4):c.1088T>G (p.Val363Gly)
|
rs369344801
|
0.00006
|
NM_015102.5(NPHP4):c.1166T>C (p.Val389Ala)
|
rs368324380
|
0.00006
|
NM_015102.5(NPHP4):c.1222C>T (p.Pro408Ser)
|
rs201192228
|
0.00006
|
NM_015102.5(NPHP4):c.1238T>C (p.Ile413Thr)
|
rs373614448
|
0.00006
|
NM_015102.5(NPHP4):c.1439C>T (p.Ser480Leu)
|
rs762305544
|
0.00006
|
NM_015102.5(NPHP4):c.2198G>A (p.Gly733Asp)
|
rs587783027
|
0.00006
|
NM_015102.5(NPHP4):c.2306A>T (p.His769Leu)
|
rs200821373
|
0.00006
|
NM_015102.5(NPHP4):c.254C>T (p.Pro85Leu)
|
rs200272048
|
0.00006
|
NM_015102.5(NPHP4):c.279G>T (p.Glu93Asp)
|
rs775927621
|
0.00006
|
NM_015102.5(NPHP4):c.2881C>T (p.Arg961Cys)
|
rs376773394
|
0.00006
|
NM_015102.5(NPHP4):c.2939C>T (p.Thr980Met)
|
rs199645515
|
0.00006
|
NM_015102.5(NPHP4):c.3104C>T (p.Pro1035Leu)
|
rs376508978
|
0.00006
|
NM_015102.5(NPHP4):c.3118A>G (p.Met1040Val)
|
rs777310738
|
0.00006
|
NM_015102.5(NPHP4):c.3231+5G>A
|
rs886046460
|
0.00006
|
NM_015102.5(NPHP4):c.3703C>T (p.Arg1235Cys)
|
rs774386141
|
0.00006
|
NM_015102.5(NPHP4):c.3757C>T (p.Arg1253Trp)
|
rs762195159
|
0.00006
|
NM_015102.5(NPHP4):c.3960C>T (p.Leu1320=)
|
rs778306754
|
0.00006
|
NM_015102.5(NPHP4):c.4118G>A (p.Arg1373Gln)
|
rs768550124
|
0.00006
|
NM_015102.5(NPHP4):c.4261G>A (p.Val1421Met)
|
rs371657189
|
0.00006
|
NM_015102.5(NPHP4):c.619C>T (p.Leu207=)
|
rs765514910
|
0.00006
|
NM_015102.5(NPHP4):c.863G>A (p.Arg288His)
|
rs774872736
|
0.00006
|
NM_015102.5(NPHP4):c.946C>T (p.Arg316Cys)
|
rs761345213
|
0.00006
|
NM_015650.4(TRAF3IP1):c.1064G>A (p.Gly355Glu)
|
rs560016209
|
0.00006
|
NM_025114.4(CEP290):c.-41C>T
|
rs759820573
|
0.00006
|
NM_025114.4(CEP290):c.2616G>A (p.Ser872=)
|
rs776360559
|
0.00006
|
NM_025114.4(CEP290):c.4063C>T (p.Arg1355Cys)
|
rs376425111
|
0.00006
|
NM_025114.4(CEP290):c.4754A>G (p.His1585Arg)
|
rs199826787
|
0.00006
|
NM_025114.4(CEP290):c.5709+12A>G
|
rs371010287
|
0.00006
|
NM_025114.4(CEP290):c.6358-5C>T
|
rs372986399
|
0.00006
|
NM_025114.4(CEP290):c.755A>T (p.Lys252Met)
|
rs991079890
|
0.00006
|
NM_025132.4(WDR19):c.1118C>G (p.Ala373Gly)
|
rs371744495
|
0.00006
|
NM_025132.4(WDR19):c.1172A>G (p.Asn391Ser)
|
rs758716599
|
0.00006
|
NM_025132.4(WDR19):c.1639G>A (p.Ala547Thr)
|
rs754631759
|
0.00006
|
NM_025132.4(WDR19):c.2292A>T (p.Gln764His)
|
rs1340705825
|
0.00006
|
NM_025132.4(WDR19):c.2455C>A (p.Gln819Lys)
|
rs779337768
|
0.00006
|
NM_025132.4(WDR19):c.3160G>A (p.Ala1054Thr)
|
rs756862143
|
0.00006
|
NM_025132.4(WDR19):c.3362A>G (p.Asn1121Ser)
|
rs545916111
|
0.00006
|
NM_025132.4(WDR19):c.3383T>C (p.Val1128Ala)
|
rs372799054
|
0.00006
|
NM_025132.4(WDR19):c.4004A>G (p.Tyr1335Cys)
|
rs746465783
|
0.00006
|
NM_025132.4(WDR19):c.785G>A (p.Gly262Glu)
|
rs778096567
|
0.00006
|
NM_025132.4(WDR19):c.842T>C (p.Ile281Thr)
|
rs369657594
|
0.00006
|
NM_001128178.3(NPHP1):c.1589G>A (p.Arg530Gln)
|
rs534052463
|
0.00005
|
NM_001128178.3(NPHP1):c.1932C>T (p.Gly644=)
|
rs200631256
|
0.00005
|
NM_006642.5(SDCCAG8):c.280T>A (p.Ser94Thr)
|
rs776810375
|
0.00005
|
NM_006642.5(SDCCAG8):c.968G>A (p.Arg323Lys)
|
rs576672580
|
0.00005
|
NM_014956.5(CEP164):c.1574A>G (p.Gln525Arg)
|
rs778958469
|
0.00005
|
NM_014956.5(CEP164):c.1948C>T (p.Arg650Trp)
|
rs145755063
|
0.00005
|
NM_014956.5(CEP164):c.2921C>T (p.Thr974Ile)
|
rs150451678
|
0.00005
|
NM_014956.5(CEP164):c.2977T>G (p.Ser993Ala)
|
rs200571532
|
0.00005
|
NM_014956.5(CEP164):c.3188T>C (p.Ile1063Thr)
|
rs148477756
|
0.00005
|
NM_014956.5(CEP164):c.3538C>T (p.Arg1180Trp)
|
rs557730163
|
0.00005
|
NM_014956.5(CEP164):c.3883G>A (p.Ala1295Thr)
|
rs370793843
|
0.00005
|
NM_014956.5(CEP164):c.4148G>C (p.Gly1383Ala)
|
rs913817059
|
0.00005
|
NM_014956.5(CEP164):c.4355A>G (p.His1452Arg)
|
rs370039438
|
0.00005
|
NM_014956.5(CEP164):c.4375C>T (p.Arg1459Cys)
|
rs148650653
|
0.00005
|
NM_014956.5(CEP164):c.710C>A (p.Pro237His)
|
rs567606919
|
0.00005
|
NM_015102.5(NPHP4):c.1129G>A (p.Val377Ile)
|
rs751685493
|
0.00005
|
NM_015102.5(NPHP4):c.1709A>G (p.Glu570Gly)
|
rs200634524
|
0.00005
|
NM_015102.5(NPHP4):c.2143+3G>T
|
rs762882392
|
0.00005
|
NM_015102.5(NPHP4):c.2323C>T (p.Arg775Trp)
|
rs768582000
|
0.00005
|
NM_015102.5(NPHP4):c.2594C>T (p.Thr865Met)
|
rs368898819
|
0.00005
|
NM_015102.5(NPHP4):c.2647G>A (p.Val883Met)
|
rs769851221
|
0.00005
|
NM_015102.5(NPHP4):c.2798G>A (p.Arg933Gln)
|
rs768347263
|
0.00005
|
NM_015102.5(NPHP4):c.3037G>A (p.Glu1013Lys)
|
rs771042265
|
0.00005
|
NM_015102.5(NPHP4):c.3434A>G (p.Lys1145Arg)
|
rs923103631
|
0.00005
|
NM_015102.5(NPHP4):c.4145G>A (p.Gly1382Glu)
|
rs773368924
|
0.00005
|
NM_015102.5(NPHP4):c.64C>T (p.Arg22Cys)
|
rs773309269
|
0.00005
|
NM_015102.5(NPHP4):c.694C>T (p.Arg232Cys)
|
rs572497035
|
0.00005
|
NM_025114.4(CEP290):c.2174A>C (p.Glu725Ala)
|
rs375038986
|
0.00005
|
NM_025114.4(CEP290):c.2638G>T (p.Ala880Ser)
|
rs147362398
|
0.00005
|
NM_025114.4(CEP290):c.4865G>A (p.Arg1622His)
|
rs758453972
|
0.00005
|
NM_025114.4(CEP290):c.5127G>T (p.Gln1709His)
|
rs757738553
|
0.00005
|
NM_025132.4(WDR19):c.1734T>A (p.Asp578Glu)
|
rs571678102
|
0.00005
|
NM_025132.4(WDR19):c.2450T>A (p.Val817Glu)
|
rs749621367
|
0.00005
|
NM_025132.4(WDR19):c.3140C>T (p.Pro1047Leu)
|
rs1244203665
|
0.00005
|
NM_025132.4(WDR19):c.3280C>T (p.Arg1094Cys)
|
rs757564170
|
0.00005
|
NM_025132.4(WDR19):c.3521G>A (p.Arg1174His)
|
rs372719724
|
0.00005
|
NM_025132.4(WDR19):c.592G>A (p.Ala198Thr)
|
rs575149055
|
0.00005
|
NM_001023570.4(IQCB1):c.1129+13A>G
|
rs371443898
|
0.00004
|
NM_001023570.4(IQCB1):c.1151G>A (p.Arg384Gln)
|
rs773223673
|
0.00004
|
NM_001023570.4(IQCB1):c.118C>T (p.Pro40Ser)
|
rs750396752
|
0.00004
|
NM_001023570.4(IQCB1):c.1466G>A (p.Arg489Gln)
|
rs778777318
|
0.00004
|
NM_001023570.4(IQCB1):c.1594G>A (p.Gly532Arg)
|
rs149207095
|
0.00004
|
NM_001023570.4(IQCB1):c.348A>G (p.Leu116=)
|
rs139299149
|
0.00004
|
NM_001023570.4(IQCB1):c.458T>C (p.Leu153Ser)
|
rs368772723
|
0.00004
|
NM_001023570.4(IQCB1):c.482A>G (p.Gln161Arg)
|
rs376700204
|
0.00004
|
NM_001128178.3(NPHP1):c.*238T>C
|
rs897567205
|
0.00004
|
NM_001128178.3(NPHP1):c.1252A>G (p.Ile418Val)
|
rs577560349
|
0.00004
|
NM_001128178.3(NPHP1):c.1649T>C (p.Ile550Thr)
|
rs143231282
|
0.00004
|
NM_001128178.3(NPHP1):c.1861G>C (p.Glu621Gln)
|
rs780427871
|
0.00004
|
NM_001128178.3(NPHP1):c.1960G>A (p.Gly654Arg)
|
rs781531545
|
0.00004
|
NM_001128178.3(NPHP1):c.912A>G (p.Gln304=)
|
rs794726975
|
0.00004
|
NM_001128178.3(NPHP1):c.941C>G (p.Ala314Gly)
|
rs375317119
|
0.00004
|
NM_006642.5(SDCCAG8):c.1492A>G (p.Ile498Val)
|
rs765529431
|
0.00004
|
NM_006642.5(SDCCAG8):c.1588G>A (p.Glu530Lys)
|
rs190020173
|
0.00004
|
NM_006642.5(SDCCAG8):c.415T>C (p.Cys139Arg)
|
rs769333887
|
0.00004
|
NM_014956.5(CEP164):c.1495G>A (p.Glu499Lys)
|
rs763039493
|
0.00004
|
NM_014956.5(CEP164):c.1703C>T (p.Thr568Ile)
|
rs752334538
|
0.00004
|
NM_014956.5(CEP164):c.1853T>C (p.Met618Thr)
|
rs142108558
|
0.00004
|
NM_014956.5(CEP164):c.1860A>T (p.Gln620His)
|
rs745707423
|
0.00004
|
NM_014956.5(CEP164):c.190C>G (p.Pro64Ala)
|
rs138449146
|
0.00004
|
NM_014956.5(CEP164):c.1982G>A (p.Arg661Gln)
|
rs781063589
|
0.00004
|
NM_014956.5(CEP164):c.2002C>A (p.Gln668Lys)
|
rs375310104
|
0.00004
|
NM_014956.5(CEP164):c.2066+4A>G
|
rs577854690
|
0.00004
|
NM_014956.5(CEP164):c.2740C>T (p.Arg914Trp)
|
rs541217768
|
0.00004
|
NM_014956.5(CEP164):c.2854G>A (p.Ala952Thr)
|
rs773981726
|
0.00004
|
NM_014956.5(CEP164):c.3279C>T (p.Ser1093=)
|
rs766038184
|
0.00004
|
NM_014956.5(CEP164):c.3415C>T (p.Arg1139Cys)
|
rs374437787
|
0.00004
|
NM_014956.5(CEP164):c.499G>A (p.Val167Met)
|
rs748619597
|
0.00004
|
NM_014956.5(CEP164):c.529C>T (p.Arg177Cys)
|
rs774763557
|
0.00004
|
NM_014956.5(CEP164):c.779C>A (p.Thr260Lys)
|
rs776372232
|
0.00004
|
NM_015102.5(NPHP4):c.1168C>T (p.Arg390Cys)
|
rs748941493
|
0.00004
|
NM_015102.5(NPHP4):c.1448C>G (p.Pro483Arg)
|
rs759608529
|
0.00004
|
NM_015102.5(NPHP4):c.1634G>A (p.Gly545Asp)
|
rs200800785
|
0.00004
|
NM_015102.5(NPHP4):c.1822G>A (p.Glu608Lys)
|
rs780231735
|
0.00004
|
NM_015102.5(NPHP4):c.1874C>T (p.Pro625Leu)
|
rs377160096
|
0.00004
|
NM_015102.5(NPHP4):c.2752C>T (p.Arg918Trp)
|
rs767779934
|
0.00004
|
NM_015102.5(NPHP4):c.2869G>A (p.Ala957Thr)
|
rs772593921
|
0.00004
|
NM_015102.5(NPHP4):c.3073G>C (p.Asp1025His)
|
rs760874774
|
0.00004
|
NM_015102.5(NPHP4):c.319G>A (p.Val107Met)
|
rs377738968
|
0.00004
|
NM_015102.5(NPHP4):c.3310G>A (p.Ala1104Thr)
|
rs747313030
|
0.00004
|
NM_015102.5(NPHP4):c.3403C>T (p.Arg1135Cys)
|
rs374387338
|
0.00004
|
NM_015102.5(NPHP4):c.3739C>T (p.Arg1247Cys)
|
rs377686745
|
0.00004
|
NM_015102.5(NPHP4):c.4075C>T (p.Arg1359Trp)
|
rs369162678
|
0.00004
|
NM_015102.5(NPHP4):c.494C>T (p.Pro165Leu)
|
rs750994795
|
0.00004
|
NM_015102.5(NPHP4):c.503A>G (p.Gln168Arg)
|
rs762284065
|
0.00004
|
NM_015102.5(NPHP4):c.593C>T (p.Ala198Val)
|
rs370410995
|
0.00004
|
NM_015102.5(NPHP4):c.997G>A (p.Gly333Arg)
|
rs772219240
|
0.00004
|
NM_015650.4(TRAF3IP1):c.88C>T (p.Pro30Ser)
|
rs1256966921
|
0.00004
|
NM_025114.4(CEP290):c.-96C>T
|
rs528270888
|
0.00004
|
NM_025114.4(CEP290):c.1945G>A (p.Glu649Lys)
|
rs761705359
|
0.00004
|
NM_025114.4(CEP290):c.2218A>G (p.Ile740Val)
|
rs754736974
|
0.00004
|
NM_025114.4(CEP290):c.3028A>G (p.Ile1010Val)
|
rs1038566350
|
0.00004
|
NM_025114.4(CEP290):c.3230A>G (p.Gln1077Arg)
|
rs200668620
|
0.00004
|
NM_025114.4(CEP290):c.3758G>A (p.Arg1253His)
|
rs763801479
|
0.00004
|
NM_025114.4(CEP290):c.3791G>A (p.Arg1264His)
|
rs774144082
|
0.00004
|
NM_025114.4(CEP290):c.4064G>A (p.Arg1355His)
|
rs548558619
|
0.00004
|
NM_025114.4(CEP290):c.4151G>A (p.Arg1384His)
|
rs143152287
|
0.00004
|
NM_025114.4(CEP290):c.4523G>A (p.Arg1508Gln)
|
rs568197175
|
0.00004
|
NM_025114.4(CEP290):c.5186G>A (p.Arg1729Gln)
|
rs535531689
|
0.00004
|
NM_025114.4(CEP290):c.7365A>G (p.Glu2455=)
|
rs765709669
|
0.00004
|
NM_025114.4(CEP290):c.814G>A (p.Asp272Asn)
|
rs866480852
|
0.00004
|
NM_025132.4(WDR19):c.1390C>T (p.Arg464Cys)
|
rs201148758
|
0.00004
|
NM_025132.4(WDR19):c.1748C>T (p.Thr583Ile)
|
rs1286484497
|
0.00004
|
NM_025132.4(WDR19):c.1942G>A (p.Glu648Lys)
|
rs377367588
|
0.00004
|
NM_025132.4(WDR19):c.2362G>A (p.Ala788Thr)
|
rs768082694
|
0.00004
|
NM_025132.4(WDR19):c.2786G>A (p.Arg929His)
|
rs201685269
|
0.00004
|
NM_025132.4(WDR19):c.3184-3C>T
|
rs750130004
|
0.00004
|
NM_025132.4(WDR19):c.3247G>A (p.Asp1083Asn)
|
rs376167184
|
0.00004
|
NM_025132.4(WDR19):c.3281G>A (p.Arg1094His)
|
rs781620821
|
0.00004
|
NM_025132.4(WDR19):c.3474A>G (p.Ile1158Met)
|
rs760312911
|
0.00004
|
NM_025132.4(WDR19):c.3502G>A (p.Asp1168Asn)
|
rs750250561
|
0.00004
|
NM_025132.4(WDR19):c.3532C>T (p.Arg1178Trp)
|
rs754690461
|
0.00004
|
NM_025132.4(WDR19):c.427A>T (p.Thr143Ser)
|
rs1300821144
|
0.00004
|
NM_025132.4(WDR19):c.817A>G (p.Asn273Asp)
|
rs375644378
|
0.00004
|
NM_001023570.4(IQCB1):c.1279G>A (p.Ala427Thr)
|
rs776989189
|
0.00003
|
NM_001023570.4(IQCB1):c.1567+3A>G
|
rs1403759372
|
0.00003
|
NM_001023570.4(IQCB1):c.445C>A (p.Leu149Ile)
|
rs1001594561
|
0.00003
|
NM_001023570.4(IQCB1):c.714T>C (p.Ala238=)
|
rs886057828
|
0.00003
|
NM_001023570.4(IQCB1):c.826C>G (p.Gln276Glu)
|
rs141949168
|
0.00003
|
NM_001023570.4(IQCB1):c.904C>G (p.Gln302Glu)
|
rs756776335
|
0.00003
|
NM_001128178.3(NPHP1):c.50A>G (p.Asn17Ser)
|
rs200480007
|
0.00003
|
NM_006642.5(SDCCAG8):c.-131T>C
|
rs886046327
|
0.00003
|
NM_006642.5(SDCCAG8):c.1373G>A (p.Arg458His)
|
rs748784645
|
0.00003
|
NM_006642.5(SDCCAG8):c.1892C>T (p.Thr631Ile)
|
rs565662622
|
0.00003
|
NM_006642.5(SDCCAG8):c.1945T>C (p.Cys649Arg)
|
rs371805116
|
0.00003
|
NM_006642.5(SDCCAG8):c.518T>C (p.Leu173Pro)
|
rs541533278
|
0.00003
|
NM_006642.5(SDCCAG8):c.66G>T (p.Arg22=)
|
rs764668676
|
0.00003
|
NM_006642.5(SDCCAG8):c.676-4A>G
|
rs377256554
|
0.00003
|
NM_006642.5(SDCCAG8):c.842G>A (p.Gly281Asp)
|
rs765751496
|
0.00003
|
NM_006642.5(SDCCAG8):c.866A>G (p.His289Arg)
|
rs147807589
|
0.00003
|
NM_014956.5(CEP164):c.100C>T (p.Arg34Trp)
|
rs775902514
|
0.00003
|
NM_014956.5(CEP164):c.1203A>G (p.Ile401Met)
|
rs202080477
|
0.00003
|
NM_014956.5(CEP164):c.1246C>T (p.Arg416Cys)
|
rs766713516
|
0.00003
|
NM_014956.5(CEP164):c.1598C>T (p.Pro533Leu)
|
rs761621131
|
0.00003
|
NM_014956.5(CEP164):c.2326C>T (p.Arg776Trp)
|
rs377437628
|
0.00003
|
NM_014956.5(CEP164):c.2630G>A (p.Arg877Gln)
|
rs756048473
|
0.00003
|
NM_014956.5(CEP164):c.2656G>A (p.Gly886Arg)
|
rs377597884
|
0.00003
|
NM_014956.5(CEP164):c.2746C>T (p.Arg916Trp)
|
rs1055666351
|
0.00003
|
NM_014956.5(CEP164):c.3020G>A (p.Arg1007His)
|
rs372292887
|
0.00003
|
NM_014956.5(CEP164):c.3278+5_3278+8del
|
rs929035130
|
0.00003
|
NM_014956.5(CEP164):c.3371T>C (p.Met1124Thr)
|
rs527615343
|
0.00003
|
NM_014956.5(CEP164):c.337A>G (p.Lys113Glu)
|
rs75301270
|
0.00003
|
NM_014956.5(CEP164):c.4123C>G (p.Pro1375Ala)
|
rs757246851
|
0.00003
|
NM_014956.5(CEP164):c.625C>G (p.Leu209Val)
|
rs921440647
|
0.00003
|
NM_014956.5(CEP164):c.703A>G (p.Ser235Gly)
|
rs777527578
|
0.00003
|
NM_014956.5(CEP164):c.765+3A>T
|
rs1256710112
|
0.00003
|
NM_014956.5(CEP164):c.832C>T (p.Pro278Ser)
|
rs767609128
|
0.00003
|
NM_014956.5(CEP164):c.833C>G (p.Pro278Arg)
|
rs376214075
|
0.00003
|
NM_015102.5(NPHP4):c.1330C>T (p.Arg444Trp)
|
rs375090105
|
0.00003
|
NM_015102.5(NPHP4):c.1408C>T (p.Arg470Trp)
|
rs367686843
|
0.00003
|
NM_015102.5(NPHP4):c.143T>C (p.Leu48Pro)
|
rs374239338
|
0.00003
|
NM_015102.5(NPHP4):c.2032G>A (p.Ala678Thr)
|
rs368101076
|
0.00003
|
NM_015102.5(NPHP4):c.2246T>C (p.Ile749Thr)
|
rs372250881
|
0.00003
|
NM_015102.5(NPHP4):c.2260G>A (p.Gly754Arg)
|
rs373962831
|
0.00003
|
NM_015102.5(NPHP4):c.2419C>T (p.Arg807Cys)
|
rs770004315
|
0.00003
|
NM_015102.5(NPHP4):c.2513G>A (p.Gly838Asp)
|
rs1233207932
|
0.00003
|
NM_015102.5(NPHP4):c.2527C>G (p.Pro843Ala)
|
rs775263560
|
0.00003
|
NM_015102.5(NPHP4):c.2620G>A (p.Val874Met)
|
rs1412960310
|
0.00003
|
NM_015102.5(NPHP4):c.3268G>A (p.Ala1090Thr)
|
rs573269001
|
0.00003
|
NM_015102.5(NPHP4):c.3417G>A (p.Pro1139=)
|
rs371527260
|
0.00003
|
NM_015102.5(NPHP4):c.3452C>T (p.Pro1151Leu)
|
rs549077156
|
0.00003
|
NM_015102.5(NPHP4):c.3555T>A (p.Asn1185Lys)
|
rs753555544
|
0.00003
|
NM_015102.5(NPHP4):c.3575G>A (p.Arg1192Gln)
|
rs539967736
|
0.00003
|
NM_015102.5(NPHP4):c.3611C>T (p.Pro1204Leu)
|
rs199625626
|
0.00003
|
NM_015102.5(NPHP4):c.3720C>T (p.Cys1240=)
|
rs377728296
|
0.00003
|
NM_015102.5(NPHP4):c.3882G>T (p.Arg1294Ser)
|
rs367814493
|
0.00003
|
NM_015102.5(NPHP4):c.3961G>A (p.Val1321Met)
|
rs372485746
|
0.00003
|
NM_015102.5(NPHP4):c.4076G>A (p.Arg1359Gln)
|
rs766202367
|
0.00003
|
NM_025114.4(CEP290):c.1192G>T (p.Ala398Ser)
|
rs764079993
|
0.00003
|
NM_025114.4(CEP290):c.1359G>A (p.Ser453=)
|
rs779195306
|
0.00003
|
NM_025114.4(CEP290):c.1387G>A (p.Val463Ile)
|
rs558414868
|
0.00003
|
NM_025114.4(CEP290):c.2267C>T (p.Ser756Leu)
|
rs761111801
|
0.00003
|
NM_025114.4(CEP290):c.2447G>A (p.Arg816His)
|
rs768448895
|
0.00003
|
NM_025114.4(CEP290):c.3178A>G (p.Thr1060Ala)
|
rs948383352
|
0.00003
|
NM_025114.4(CEP290):c.3593C>T (p.Ser1198Leu)
|
rs372640024
|
0.00003
|
NM_025114.4(CEP290):c.4121A>G (p.Tyr1374Cys)
|
rs1337676817
|
0.00003
|
NM_025114.4(CEP290):c.4837C>G (p.Pro1613Ala)
|
rs769280708
|
0.00003
|
NM_025114.4(CEP290):c.514A>C (p.Lys172Gln)
|
rs765944337
|
0.00003
|
NM_025114.4(CEP290):c.5552A>T (p.Lys1851Ile)
|
rs372565248
|
0.00003
|
NM_025114.4(CEP290):c.5753G>T (p.Trp1918Leu)
|
rs371737956
|
0.00003
|
NM_025114.4(CEP290):c.6870T>C (p.Asn2290=)
|
rs572443869
|
0.00003
|
NM_025114.4(CEP290):c.7070A>G (p.Glu2357Gly)
|
rs759725378
|
0.00003
|
NM_025114.4(CEP290):c.7126C>T (p.Pro2376Ser)
|
rs754462052
|
0.00003
|
NM_025114.4(CEP290):c.7375C>T (p.Pro2459Ser)
|
rs754398792
|
0.00003
|
NM_025132.4(WDR19):c.1016A>G (p.Gln339Arg)
|
rs773773910
|
0.00003
|
NM_025132.4(WDR19):c.1114G>A (p.Val372Ile)
|
rs184326673
|
0.00003
|
NM_025132.4(WDR19):c.1168C>A (p.Pro390Thr)
|
rs752803760
|
0.00003
|
NM_025132.4(WDR19):c.1182A>G (p.Ala394=)
|
rs769687203
|
0.00003
|
NM_025132.4(WDR19):c.1430G>A (p.Arg477His)
|
rs371117988
|
0.00003
|
NM_025132.4(WDR19):c.2087G>A (p.Arg696His)
|
rs747881116
|
0.00003
|
NM_025132.4(WDR19):c.2320A>G (p.Ile774Val)
|
rs762043395
|
0.00003
|
NM_025132.4(WDR19):c.2363C>T (p.Ala788Val)
|
rs867487924
|
0.00003
|
NM_025132.4(WDR19):c.2492T>C (p.Val831Ala)
|
rs934792994
|
0.00003
|
NM_025132.4(WDR19):c.2632C>T (p.Arg878Cys)
|
rs770091572
|
0.00003
|
NM_025132.4(WDR19):c.2872G>A (p.Ala958Thr)
|
rs1057523257
|
0.00003
|
NM_025132.4(WDR19):c.288G>A (p.Met96Ile)
|
rs374891297
|
0.00003
|
NM_025132.4(WDR19):c.2972A>G (p.Asn991Ser)
|
rs763190830
|
0.00003
|
NM_025132.4(WDR19):c.3434C>T (p.Ser1145Phe)
|
rs199625785
|
0.00003
|
NM_025132.4(WDR19):c.3633C>G (p.Phe1211Leu)
|
rs757721845
|
0.00003
|
NM_025132.4(WDR19):c.3640G>A (p.Ala1214Thr)
|
rs1206705962
|
0.00003
|
NM_025132.4(WDR19):c.3668G>A (p.Arg1223His)
|
rs115335610
|
0.00003
|
NM_025132.4(WDR19):c.3749C>T (p.Thr1250Met)
|
rs529745222
|
0.00003
|
NM_025132.4(WDR19):c.523-3T>C
|
rs747603843
|
0.00003
|
NM_025132.4(WDR19):c.778C>T (p.His260Tyr)
|
rs754678482
|
0.00003
|
NM_001023570.4(IQCB1):c.1003A>G (p.Met335Val)
|
rs143553764
|
0.00002
|
NM_001023570.4(IQCB1):c.1046A>G (p.Lys349Arg)
|
rs200158965
|
0.00002
|
NM_001023570.4(IQCB1):c.1271A>G (p.Gln424Arg)
|
rs545361604
|
0.00002
|
NM_001023570.4(IQCB1):c.1334G>A (p.Arg445Gln)
|
rs377265463
|
0.00002
|
NM_001023570.4(IQCB1):c.1741G>C (p.Asp581His)
|
rs1283756243
|
0.00002
|
NM_001023570.4(IQCB1):c.814C>G (p.Gln272Glu)
|
rs760296374
|
0.00002
|
NM_001023570.4(IQCB1):c.884A>G (p.His295Arg)
|
rs377524012
|
0.00002
|
NM_001128178.3(NPHP1):c.1541A>G (p.Glu514Gly)
|
rs755592231
|
0.00002
|
NM_001128178.3(NPHP1):c.1617A>G (p.Lys539=)
|
rs1266229950
|
0.00002
|
NM_001128178.3(NPHP1):c.1643-3C>T
|
rs202167187
|
0.00002
|
NM_001128178.3(NPHP1):c.2018G>A (p.Arg673Lys)
|
rs753549193
|
0.00002
|
NM_001128178.3(NPHP1):c.242G>A (p.Arg81Lys)
|
rs762244069
|
0.00002
|
NM_001128178.3(NPHP1):c.460G>A (p.Gly154Ser)
|
rs769509705
|
0.00002
|
NM_001128178.3(NPHP1):c.872G>A (p.Arg291Gln)
|
rs751387472
|
0.00002
|
NM_006642.5(SDCCAG8):c.1064C>A (p.Thr355Asn)
|
rs199524638
|
0.00002
|
NM_006642.5(SDCCAG8):c.1352C>T (p.Thr451Ile)
|
rs762653933
|
0.00002
|
NM_006642.5(SDCCAG8):c.14C>T (p.Pro5Leu)
|
rs747363592
|
0.00002
|
NM_006642.5(SDCCAG8):c.1643G>C (p.Ser548Thr)
|
rs775898129
|
0.00002
|
NM_006642.5(SDCCAG8):c.1963G>A (p.Val655Ile)
|
rs776040834
|
0.00002
|
NM_006642.5(SDCCAG8):c.661G>A (p.Glu221Lys)
|
rs373999051
|
0.00002
|
NM_006642.5(SDCCAG8):c.718G>A (p.Glu240Lys)
|
rs774139674
|
0.00002
|
NM_006642.5(SDCCAG8):c.741-7T>C
|
rs755931555
|
0.00002
|
NM_006642.5(SDCCAG8):c.918A>C (p.Glu306Asp)
|
rs770183847
|
0.00002
|
NM_014956.5(CEP164):c.1001C>G (p.Pro334Arg)
|
rs2042173742
|
0.00002
|
NM_014956.5(CEP164):c.1268T>C (p.Leu423Pro)
|
rs557486197
|
0.00002
|
NM_014956.5(CEP164):c.1336A>G (p.Ile446Val)
|
rs1213789533
|
0.00002
|
NM_014956.5(CEP164):c.1417C>T (p.Pro473Ser)
|
rs1481684034
|
0.00002
|
NM_014956.5(CEP164):c.1493C>T (p.Pro498Leu)
|
rs773140295
|
0.00002
|
NM_014956.5(CEP164):c.1700C>T (p.Pro567Leu)
|
rs1470761164
|
0.00002
|
NM_014956.5(CEP164):c.2362-14G>A
|
rs1035815151
|
0.00002
|
NM_014956.5(CEP164):c.2464T>G (p.Ser822Ala)
|
rs750842640
|
0.00002
|
NM_014956.5(CEP164):c.2494-3C>T
|
rs763312597
|
0.00002
|
NM_014956.5(CEP164):c.2726G>A (p.Arg909His)
|
rs530932318
|
0.00002
|
NM_014956.5(CEP164):c.2924C>T (p.Ala975Val)
|
rs778872289
|
0.00002
|
NM_014956.5(CEP164):c.3107C>T (p.Ala1036Val)
|
rs1264586687
|
0.00002
|
NM_014956.5(CEP164):c.3434C>T (p.Ala1145Val)
|
rs770370539
|
0.00002
|
NM_014956.5(CEP164):c.3482T>C (p.Met1161Thr)
|
rs375136293
|
0.00002
|
NM_014956.5(CEP164):c.3501+4A>G
|
rs1180692184
|
0.00002
|
NM_014956.5(CEP164):c.3519T>A (p.Asp1173Glu)
|
rs746686807
|
0.00002
|
NM_014956.5(CEP164):c.3609+3G>A
|
rs148009946
|
0.00002
|
NM_014956.5(CEP164):c.3989C>T (p.Thr1330Met)
|
rs774641136
|
0.00002
|
NM_014956.5(CEP164):c.4021G>C (p.Gly1341Arg)
|
rs781132728
|
0.00002
|
NM_014956.5(CEP164):c.4027A>G (p.Arg1343Gly)
|
rs748810265
|
0.00002
|
NM_014956.5(CEP164):c.491C>G (p.Ser164Cys)
|
rs149806421
|
0.00002
|
NM_014956.5(CEP164):c.907G>A (p.Gly303Arg)
|
rs1281252703
|
0.00002
|
NM_015102.5(NPHP4):c.109T>C (p.Trp37Arg)
|
rs770741381
|
0.00002
|
NM_015102.5(NPHP4):c.1343C>T (p.Ser448Leu)
|
rs367909950
|
0.00002
|
NM_015102.5(NPHP4):c.1418G>T (p.Arg473Met)
|
rs754829412
|
0.00002
|
NM_015102.5(NPHP4):c.1585G>A (p.Gly529Ser)
|
rs750626428
|
0.00002
|
NM_015102.5(NPHP4):c.1929G>A (p.Met643Ile)
|
rs779995407
|
0.00002
|
NM_015102.5(NPHP4):c.2006C>T (p.Thr669Ile)
|
rs368327650
|
0.00002
|
NM_015102.5(NPHP4):c.2116G>T (p.Val706Leu)
|
rs755418982
|
0.00002
|
NM_015102.5(NPHP4):c.2304+6G>A
|
rs751418752
|
0.00002
|
NM_015102.5(NPHP4):c.2347G>A (p.Glu783Lys)
|
rs1349132502
|
0.00002
|
NM_015102.5(NPHP4):c.2444C>T (p.Ser815Leu)
|
rs202165848
|
0.00002
|
NM_015102.5(NPHP4):c.2686C>T (p.Arg896Trp)
|
rs754364004
|
0.00002
|
NM_015102.5(NPHP4):c.2740C>T (p.Arg914Cys)
|
rs373603595
|
0.00002
|
NM_015102.5(NPHP4):c.2956G>A (p.Gly986Arg)
|
rs370946873
|
0.00002
|
NM_015102.5(NPHP4):c.2998A>G (p.Asn1000Asp)
|
rs766073255
|
0.00002
|
NM_015102.5(NPHP4):c.3032A>G (p.Asn1011Ser)
|
rs369529384
|
0.00002
|
NM_015102.5(NPHP4):c.3241G>C (p.Gly1081Arg)
|
rs373981841
|
0.00002
|
NM_015102.5(NPHP4):c.3335G>A (p.Gly1112Asp)
|
rs755637892
|
0.00002
|
NM_015102.5(NPHP4):c.3630T>G (p.Phe1210Leu)
|
rs758458943
|
0.00002
|
NM_015102.5(NPHP4):c.3649C>T (p.Arg1217Cys)
|
rs751325206
|
0.00002
|
NM_015102.5(NPHP4):c.3659C>T (p.Ala1220Val)
|
rs758049366
|
0.00002
|
NM_015102.5(NPHP4):c.3664C>G (p.Pro1222Ala)
|
rs1038494626
|
0.00002
|
NM_015102.5(NPHP4):c.3723C>T (p.Val1241=)
|
rs375485412
|
0.00002
|
NM_015102.5(NPHP4):c.3724G>A (p.Ala1242Thr)
|
rs370942610
|
0.00002
|
NM_015102.5(NPHP4):c.3816+5G>A
|
rs971158630
|
0.00002
|
NM_015102.5(NPHP4):c.578C>T (p.Pro193Leu)
|
rs779760001
|
0.00002
|
NM_015102.5(NPHP4):c.6C>T (p.Asn2=)
|
rs371472576
|
0.00002
|
NM_015102.5(NPHP4):c.845T>A (p.Ile282Asn)
|
rs753652250
|
0.00002
|
NM_015102.5(NPHP4):c.910G>A (p.Val304Ile)
|
rs571395593
|
0.00002
|
NM_015650.4(TRAF3IP1):c.1408C>T (p.Arg470Trp)
|
rs569480234
|
0.00002
|
NM_025114.4(CEP290):c.1235C>T (p.Thr412Met)
|
rs189280108
|
0.00002
|
NM_025114.4(CEP290):c.1460A>G (p.Asn487Ser)
|
rs1331263277
|
0.00002
|
NM_025114.4(CEP290):c.1549T>C (p.Leu517=)
|
rs752942122
|
0.00002
|
NM_025114.4(CEP290):c.2167C>T (p.Arg723Trp)
|
rs372963403
|
0.00002
|
NM_025114.4(CEP290):c.2273T>C (p.Val758Ala)
|
rs369868981
|
0.00002
|
NM_025114.4(CEP290):c.3238T>G (p.Tyr1080Asp)
|
rs750466529
|
0.00002
|
NM_025114.4(CEP290):c.3410G>A (p.Arg1137Gln)
|
rs774900495
|
0.00002
|
NM_025114.4(CEP290):c.4030-14A>G
|
rs910563325
|
0.00002
|
NM_025114.4(CEP290):c.4293G>A (p.Ala1431=)
|
rs377614744
|
0.00002
|
NM_025114.4(CEP290):c.5285G>A (p.Arg1762His)
|
rs761763799
|
0.00002
|
NM_025114.4(CEP290):c.5814T>C (p.Thr1938=)
|
rs752046733
|
0.00002
|
NM_025114.4(CEP290):c.6571C>G (p.His2191Asp)
|
rs769798212
|
0.00002
|
NM_025114.4(CEP290):c.7169C>G (p.Thr2390Arg)
|
rs776216960
|
0.00002
|
NM_025114.4(CEP290):c.739G>A (p.Val247Ile)
|
rs1409885182
|
0.00002
|
NM_025132.4(WDR19):c.106T>G (p.Tyr36Asp)
|
rs781578023
|
0.00002
|
NM_025132.4(WDR19):c.128G>A (p.Arg43His)
|
rs770312522
|
0.00002
|
NM_025132.4(WDR19):c.1294A>G (p.Ser432Gly)
|
rs778750936
|
0.00002
|
NM_025132.4(WDR19):c.1486G>A (p.Val496Ile)
|
rs1482640692
|
0.00002
|
NM_025132.4(WDR19):c.1904A>G (p.His635Arg)
|
rs763696990
|
0.00002
|
NM_025132.4(WDR19):c.1931C>T (p.Thr644Met)
|
rs770339514
|
0.00002
|
NM_025132.4(WDR19):c.1982+6C>T
|
rs745860100
|
0.00002
|
NM_025132.4(WDR19):c.200A>G (p.Asp67Gly)
|
rs778896318
|
0.00002
|
NM_025132.4(WDR19):c.2347A>G (p.Ile783Val)
|
rs1055716143
|
0.00002
|
NM_025132.4(WDR19):c.2668C>T (p.Pro890Ser)
|
rs1318406101
|
0.00002
|
NM_025132.4(WDR19):c.2674G>A (p.Val892Ile)
|
rs551049157
|
0.00002
|
NM_025132.4(WDR19):c.2785C>T (p.Arg929Cys)
|
rs1470166429
|
0.00002
|
NM_025132.4(WDR19):c.2945A>G (p.Glu982Gly)
|
rs923164828
|
0.00002
|
NM_025132.4(WDR19):c.2954C>A (p.Thr985Lys)
|
rs769807270
|
0.00002
|
NM_025132.4(WDR19):c.3113G>A (p.Arg1038Gln)
|
rs1322637464
|
0.00002
|
NM_025132.4(WDR19):c.326G>A (p.Gly109Glu)
|
rs766029437
|
0.00002
|
NM_025132.4(WDR19):c.343G>A (p.Gly115Arg)
|
rs376471437
|
0.00002
|
NM_025132.4(WDR19):c.3485T>A (p.Ile1162Asn)
|
rs1429836760
|
0.00002
|
NM_025132.4(WDR19):c.3500G>T (p.Gly1167Val)
|
rs767154492
|
0.00002
|
NM_025132.4(WDR19):c.3553A>C (p.Lys1185Gln)
|
rs998142201
|
0.00002
|
NM_025132.4(WDR19):c.3565+4A>C
|
rs771431758
|
0.00002
|
NM_025132.4(WDR19):c.3702C>G (p.Ile1234Met)
|
rs1306554397
|
0.00002
|
NM_025132.4(WDR19):c.4014G>A (p.Thr1338=)
|
rs763555032
|
0.00002
|
NM_025132.4(WDR19):c.512C>T (p.Thr171Met)
|
rs777646123
|
0.00002
|
NM_025132.4(WDR19):c.738G>A (p.Met246Ile)
|
rs756937727
|
0.00002
|
NM_001009894.3(RLIG1):c.*611A>G
|
rs2033206514
|
0.00001
|
NM_001023570.4(IQCB1):c.*160C>T
|
rs1490063473
|
0.00001
|
NM_001023570.4(IQCB1):c.*327T>C
|
rs777172993
|
0.00001
|
NM_001023570.4(IQCB1):c.*399A>G
|
rs1466189762
|
0.00001
|
NM_001023570.4(IQCB1):c.-179G>A
|
rs1449304531
|
0.00001
|
NM_001023570.4(IQCB1):c.1150C>T (p.Arg384Trp)
|
rs760548277
|
0.00001
|
NM_001023570.4(IQCB1):c.1344A>G (p.Gln448=)
|
rs886057824
|
0.00001
|
NM_001023570.4(IQCB1):c.1364G>A (p.Arg455Gln)
|
rs766072332
|
0.00001
|
NM_001023570.4(IQCB1):c.1420A>G (p.Met474Val)
|
rs764720012
|
0.00001
|
NM_001023570.4(IQCB1):c.1505G>A (p.Arg502Gln)
|
rs200367729
|
0.00001
|
NM_001023570.4(IQCB1):c.1576A>C (p.Ser526Arg)
|
rs1390983530
|
0.00001
|
NM_001023570.4(IQCB1):c.157A>G (p.Ile53Val)
|
rs542335278
|
0.00001
|
NM_001023570.4(IQCB1):c.1656C>G (p.Ala552=)
|
rs1399676175
|
0.00001
|
NM_001023570.4(IQCB1):c.272G>A (p.Cys91Tyr)
|
rs370233738
|
0.00001
|
NM_001023570.4(IQCB1):c.532G>A (p.Val178Ile)
|
rs1272185942
|
0.00001
|
NM_001023570.4(IQCB1):c.692C>T (p.Thr231Ile)
|
rs1278873318
|
0.00001
|
NM_001023570.4(IQCB1):c.823A>G (p.Arg275Gly)
|
rs886057826
|
0.00001
|
NM_001023570.4(IQCB1):c.880C>G (p.Leu294Val)
|
rs756107852
|
0.00001
|
NM_001023570.4(IQCB1):c.952C>G (p.Pro318Ala)
|
rs749043070
|
0.00001
|
NM_001128178.3(NPHP1):c.*322A>G
|
rs886054752
|
0.00001
|
NM_001128178.3(NPHP1):c.1009A>C (p.Met337Leu)
|
rs780706360
|
0.00001
|
NM_001128178.3(NPHP1):c.1016C>G (p.Pro339Arg)
|
rs746482479
|
0.00001
|
NM_001128178.3(NPHP1):c.1402G>A (p.Glu468Lys)
|
rs1186755904
|
0.00001
|
NM_001128178.3(NPHP1):c.1448A>G (p.Tyr483Cys)
|
rs1283995363
|
0.00001
|
NM_001128178.3(NPHP1):c.1523T>G (p.Val508Gly)
|
rs951115963
|
0.00001
|
NM_001128178.3(NPHP1):c.1693C>A (p.Pro565Thr)
|
rs147090619
|
0.00001
|
NM_001128178.3(NPHP1):c.1716+15T>C
|
rs368590150
|
0.00001
|
NM_001128178.3(NPHP1):c.1837C>T (p.Arg613Cys)
|
rs543675502
|
0.00001
|
NM_001128178.3(NPHP1):c.1895T>C (p.Ile632Thr)
|
rs1212945698
|
0.00001
|
NM_001128178.3(NPHP1):c.240G>A (p.Gln80=)
|
rs767719020
|
0.00001
|
NM_001128178.3(NPHP1):c.368G>A (p.Ser123Asn)
|
rs781291281
|
0.00001
|
NM_001128178.3(NPHP1):c.456A>G (p.Ser152=)
|
rs143163969
|
0.00001
|
NM_001128178.3(NPHP1):c.604G>C (p.Val202Leu)
|
rs753605280
|
0.00001
|
NM_001128178.3(NPHP1):c.771+3G>A
|
rs1365022834
|
0.00001
|
NM_001128178.3(NPHP1):c.817G>A (p.Ala273Thr)
|
rs751003854
|
0.00001
|
NM_006642.5(SDCCAG8):c.-106G>T
|
rs886046328
|
0.00001
|
NM_006642.5(SDCCAG8):c.1010A>G (p.Tyr337Cys)
|
rs771991355
|
0.00001
|
NM_006642.5(SDCCAG8):c.1069-8C>T
|
rs752672598
|
0.00001
|
NM_006642.5(SDCCAG8):c.1099G>A (p.Glu367Lys)
|
rs780671703
|
0.00001
|
NM_006642.5(SDCCAG8):c.1121G>A (p.Arg374Gln)
|
rs553797432
|
0.00001
|
NM_006642.5(SDCCAG8):c.115G>A (p.Gly39Ser)
|
rs756642876
|
0.00001
|
NM_006642.5(SDCCAG8):c.1163T>A (p.Ile388Asn)
|
rs377237088
|
0.00001
|
NM_006642.5(SDCCAG8):c.1175T>C (p.Met392Thr)
|
rs1041307493
|
0.00001
|
NM_006642.5(SDCCAG8):c.1210A>G (p.Met404Val)
|
rs1298150302
|
0.00001
|
NM_006642.5(SDCCAG8):c.1222A>G (p.Met408Val)
|
rs752002252
|
0.00001
|
NM_006642.5(SDCCAG8):c.1247C>T (p.Ala416Val)
|
rs1345199314
|
0.00001
|
NM_006642.5(SDCCAG8):c.1272G>C (p.Lys424Asn)
|
rs777728424
|
0.00001
|
NM_006642.5(SDCCAG8):c.1274T>C (p.Val425Ala)
|
rs779777531
|
0.00001
|
NM_006642.5(SDCCAG8):c.1287G>T (p.Lys429Asn)
|
rs781182231
|
0.00001
|
NM_006642.5(SDCCAG8):c.1297A>G (p.Ile433Val)
|
rs769796315
|
0.00001
|
NM_006642.5(SDCCAG8):c.1336C>T (p.Arg446Trp)
|
rs769286565
|
0.00001
|
NM_006642.5(SDCCAG8):c.1337G>A (p.Arg446Gln)
|
rs772853104
|
0.00001
|
NM_006642.5(SDCCAG8):c.1343T>C (p.Met448Thr)
|
rs1015302300
|
0.00001
|
NM_006642.5(SDCCAG8):c.1375T>C (p.Tyr459His)
|
rs1182496392
|
0.00001
|
NM_006642.5(SDCCAG8):c.1404G>A (p.Lys468=)
|
rs759125934
|
0.00001
|
NM_006642.5(SDCCAG8):c.1423C>T (p.His475Tyr)
|
rs190941099
|
0.00001
|
NM_006642.5(SDCCAG8):c.1427G>A (p.Arg476Lys)
|
rs761873846
|
0.00001
|
NM_006642.5(SDCCAG8):c.1427G>C (p.Arg476Thr)
|
rs761873846
|
0.00001
|
NM_006642.5(SDCCAG8):c.1454A>G (p.Asp485Gly)
|
rs1273880712
|
0.00001
|
NM_006642.5(SDCCAG8):c.1465A>G (p.Lys489Glu)
|
rs1573445816
|
0.00001
|
NM_006642.5(SDCCAG8):c.1488G>T (p.Leu496Phe)
|
rs1432354431
|
0.00001
|
NM_006642.5(SDCCAG8):c.1517A>G (p.His506Arg)
|
rs745351109
|
0.00001
|
NM_006642.5(SDCCAG8):c.1642A>C (p.Ser548Arg)
|
rs1388276184
|
0.00001
|
NM_006642.5(SDCCAG8):c.1690G>C (p.Glu564Gln)
|
rs750265815
|
0.00001
|
NM_006642.5(SDCCAG8):c.1730A>C (p.Gln577Pro)
|
rs771493123
|
0.00001
|
NM_006642.5(SDCCAG8):c.1768A>G (p.Thr590Ala)
|
rs780281311
|
0.00001
|
NM_006642.5(SDCCAG8):c.1783T>G (p.Phe595Val)
|
rs776765317
|
0.00001
|
NM_006642.5(SDCCAG8):c.1823A>G (p.Lys608Arg)
|
rs760154232
|
0.00001
|
NM_006642.5(SDCCAG8):c.1888T>C (p.Tyr630His)
|
rs138187640
|
0.00001
|
NM_006642.5(SDCCAG8):c.1913T>C (p.Leu638Ser)
|
rs752896885
|
0.00001
|
NM_006642.5(SDCCAG8):c.1955A>G (p.His652Arg)
|
rs746505992
|
0.00001
|
NM_006642.5(SDCCAG8):c.1964T>A (p.Val655Glu)
|
rs1415587153
|
0.00001
|
NM_006642.5(SDCCAG8):c.1973C>T (p.Thr658Met)
|
rs1057515530
|
0.00001
|
NM_006642.5(SDCCAG8):c.1986-3C>T
|
rs757455834
|
0.00001
|
NM_006642.5(SDCCAG8):c.2026C>G (p.Gln676Glu)
|
rs1242245359
|
0.00001
|
NM_006642.5(SDCCAG8):c.2122A>G (p.Met708Val)
|
rs778488043
|
0.00001
|
NM_006642.5(SDCCAG8):c.307-3T>C
|
rs901028030
|
0.00001
|
NM_006642.5(SDCCAG8):c.349G>A (p.Asp117Asn)
|
rs913322544
|
0.00001
|
NM_006642.5(SDCCAG8):c.359A>G (p.His120Arg)
|
rs778785206
|
0.00001
|
NM_006642.5(SDCCAG8):c.364A>G (p.Ile122Val)
|
rs377473337
|
0.00001
|
NM_006642.5(SDCCAG8):c.365T>C (p.Ile122Thr)
|
rs758051187
|
0.00001
|
NM_006642.5(SDCCAG8):c.37A>T (p.Ile13Phe)
|
rs763172123
|
0.00001
|
NM_006642.5(SDCCAG8):c.404A>T (p.Glu135Val)
|
rs747774826
|
0.00001
|
NM_006642.5(SDCCAG8):c.542C>T (p.Ala181Val)
|
rs372403021
|
0.00001
|
NM_006642.5(SDCCAG8):c.546C>T (p.Ser182=)
|
rs564399164
|
0.00001
|
NM_006642.5(SDCCAG8):c.560A>G (p.Asn187Ser)
|
rs185077992
|
0.00001
|
NM_006642.5(SDCCAG8):c.574A>G (p.Thr192Ala)
|
rs1003029505
|
0.00001
|
NM_006642.5(SDCCAG8):c.646G>A (p.Ala216Thr)
|
rs753823148
|
0.00001
|
NM_006642.5(SDCCAG8):c.67+17C>G
|
rs1311985140
|
0.00001
|
NM_006642.5(SDCCAG8):c.695A>C (p.Tyr232Ser)
|
rs747968552
|
0.00001
|
NM_006642.5(SDCCAG8):c.707G>A (p.Cys236Tyr)
|
rs1299404653
|
0.00001
|
NM_006642.5(SDCCAG8):c.749T>C (p.Leu250Ser)
|
rs1357310997
|
0.00001
|
NM_006642.5(SDCCAG8):c.929+6T>C
|
rs949556945
|
0.00001
|
NM_006642.5(SDCCAG8):c.950C>T (p.Ser317Phe)
|
rs368258515
|
0.00001
|
NM_014956.5(CEP164):c.112A>G (p.Ile38Val)
|
rs978689124
|
0.00001
|
NM_014956.5(CEP164):c.1144G>A (p.Ala382Thr)
|
rs780364658
|
0.00001
|
NM_014956.5(CEP164):c.1161_1163del (p.Glu387_Ile388delinsAsp)
|
rs1347609515
|
0.00001
|
NM_014956.5(CEP164):c.1226A>G (p.His409Arg)
|
rs747489061
|
0.00001
|
NM_014956.5(CEP164):c.1252C>T (p.Arg418Trp)
|
rs575328059
|
0.00001
|
NM_014956.5(CEP164):c.1259C>T (p.Ser420Leu)
|
rs1324951273
|
0.00001
|
NM_014956.5(CEP164):c.13C>A (p.Pro5Thr)
|
rs749869599
|
0.00001
|
NM_014956.5(CEP164):c.1409+6A>G
|
rs762497915
|
0.00001
|
NM_014956.5(CEP164):c.1410-11G>A
|
rs537713728
|
0.00001
|
NM_014956.5(CEP164):c.1439G>A (p.Arg480Gln)
|
rs573209223
|
0.00001
|
NM_014956.5(CEP164):c.1457G>A (p.Arg486His)
|
rs545471229
|
0.00001
|
NM_014956.5(CEP164):c.1492C>A (p.Pro498Thr)
|
rs765811586
|
0.00001
|
NM_014956.5(CEP164):c.155A>C (p.Glu52Ala)
|
rs541149150
|
0.00001
|
NM_014956.5(CEP164):c.1615G>A (p.Gly539Ser)
|
rs758286092
|
0.00001
|
NM_014956.5(CEP164):c.1628A>G (p.His543Arg)
|
rs780941204
|
0.00001
|
NM_014956.5(CEP164):c.1666G>A (p.Ala556Thr)
|
rs943322658
|
0.00001
|
NM_014956.5(CEP164):c.1725-3T>C
|
rs940650344
|
0.00001
|
NM_014956.5(CEP164):c.1727G>A (p.Arg576Gln)
|
rs757579833
|
0.00001
|
NM_014956.5(CEP164):c.1759C>T (p.Leu587Phe)
|
rs923498039
|
0.00001
|
NM_014956.5(CEP164):c.1765G>C (p.Glu589Gln)
|
rs143553347
|
0.00001
|
NM_014956.5(CEP164):c.1810G>A (p.Glu604Lys)
|
rs187622644
|
0.00001
|
NM_014956.5(CEP164):c.1812G>T (p.Glu604Asp)
|
rs1222181370
|
0.00001
|
NM_014956.5(CEP164):c.1864C>T (p.Arg622Trp)
|
rs760666687
|
0.00001
|
NM_014956.5(CEP164):c.1904G>A (p.Arg635Gln)
|
rs763183525
|
0.00001
|
NM_014956.5(CEP164):c.1930C>T (p.Leu644Phe)
|
rs1445485693
|
0.00001
|
NM_014956.5(CEP164):c.1981C>T (p.Arg661Trp)
|
rs201175046
|
0.00001
|
NM_014956.5(CEP164):c.2084C>T (p.Ser695Phe)
|
rs749213655
|
0.00001
|
NM_014956.5(CEP164):c.20G>A (p.Arg7His)
|
rs1413886061
|
0.00001
|
NM_014956.5(CEP164):c.2120A>T (p.Gln707Leu)
|
rs780538516
|
0.00001
|
NM_014956.5(CEP164):c.2198A>G (p.Glu733Gly)
|
rs746693932
|
0.00001
|
NM_014956.5(CEP164):c.2294C>T (p.Thr765Met)
|
rs140009020
|
0.00001
|
NM_014956.5(CEP164):c.2414C>T (p.Ala805Val)
|
rs555087707
|
0.00001
|
NM_014956.5(CEP164):c.2473G>A (p.Val825Met)
|
rs373870559
|
0.00001
|
NM_014956.5(CEP164):c.2491G>A (p.Glu831Lys)
|
rs977065085
|
0.00001
|
NM_014956.5(CEP164):c.2605T>C (p.Tyr869His)
|
rs774896440
|
0.00001
|
NM_014956.5(CEP164):c.2629C>T (p.Arg877Trp)
|
rs986338516
|
0.00001
|
NM_014956.5(CEP164):c.2654C>A (p.Thr885Asn)
|
rs753347841
|
0.00001
|
NM_014956.5(CEP164):c.2668C>T (p.Arg890Cys)
|
rs772514202
|
0.00001
|
NM_014956.5(CEP164):c.2776G>C (p.Asp926His)
|
rs751259435
|
0.00001
|
NM_014956.5(CEP164):c.2784G>T (p.Glu928Asp)
|
rs143446218
|
0.00001
|
NM_014956.5(CEP164):c.2866A>G (p.Lys956Glu)
|
rs1217613639
|
0.00001
|
NM_014956.5(CEP164):c.2884G>A (p.Val962Met)
|
rs750570669
|
0.00001
|
NM_014956.5(CEP164):c.2906A>G (p.Lys969Arg)
|
rs1416554475
|
0.00001
|
NM_014956.5(CEP164):c.3058G>A (p.Ala1020Thr)
|
rs1316999665
|
0.00001
|
NM_014956.5(CEP164):c.3089+6G>A
|
rs374896228
|
0.00001
|
NM_014956.5(CEP164):c.3133G>C (p.Glu1045Gln)
|
rs752093126
|
0.00001
|
NM_014956.5(CEP164):c.3172G>C (p.Glu1058Gln)
|
rs748972612
|
0.00001
|
NM_014956.5(CEP164):c.3206C>T (p.Ser1069Phe)
|
rs142722515
|
0.00001
|
NM_014956.5(CEP164):c.3242C>T (p.Ser1081Phe)
|
rs201488532
|
0.00001
|
NM_014956.5(CEP164):c.3254G>A (p.Ser1085Asn)
|
rs562234273
|
0.00001
|
NM_014956.5(CEP164):c.3262G>A (p.Asp1088Asn)
|
rs760736423
|
0.00001
|
NM_014956.5(CEP164):c.3304C>T (p.Leu1102Phe)
|
rs1307328675
|
0.00001
|
NM_014956.5(CEP164):c.3335G>A (p.Ser1112Asn)
|
rs1182752473
|
0.00001
|
NM_014956.5(CEP164):c.3380G>A (p.Arg1127Gln)
|
rs753895198
|
0.00001
|
NM_014956.5(CEP164):c.3464T>A (p.Ile1155Asn)
|
rs1341181625
|
0.00001
|
NM_014956.5(CEP164):c.3483G>A (p.Met1161Ile)
|
rs757309937
|
0.00001
|
NM_014956.5(CEP164):c.3485G>A (p.Arg1162His)
|
rs758759503
|
0.00001
|
NM_014956.5(CEP164):c.3494T>C (p.Leu1165Pro)
|
rs747917840
|
0.00001
|
NM_014956.5(CEP164):c.3505A>G (p.Thr1169Ala)
|
rs535589696
|
0.00001
|
NM_014956.5(CEP164):c.3646A>G (p.Lys1216Glu)
|
rs1431305580
|
0.00001
|
NM_014956.5(CEP164):c.3677T>C (p.Met1226Thr)
|
rs1190524819
|
0.00001
|
NM_014956.5(CEP164):c.3680A>G (p.Asp1227Gly)
|
rs765899402
|
0.00001
|
NM_014956.5(CEP164):c.3692G>A (p.Ser1231Asn)
|
rs950631722
|
0.00001
|
NM_014956.5(CEP164):c.3703G>C (p.Glu1235Gln)
|
rs1179932970
|
0.00001
|
NM_014956.5(CEP164):c.3737G>A (p.Arg1246Gln)
|
rs147208889
|
0.00001
|
NM_014956.5(CEP164):c.3741G>T (p.Gln1247His)
|
rs963921685
|
0.00001
|
NM_014956.5(CEP164):c.3775C>T (p.Arg1259Cys)
|
rs780550729
|
0.00001
|
NM_014956.5(CEP164):c.3805C>T (p.Arg1269Trp)
|
rs142578192
|
0.00001
|
NM_014956.5(CEP164):c.386G>C (p.Ser129Thr)
|
rs919243922
|
0.00001
|
NM_014956.5(CEP164):c.389C>T (p.Ser130Leu)
|
rs1006672566
|
0.00001
|
NM_014956.5(CEP164):c.3944A>G (p.Tyr1315Cys)
|
rs1171979946
|
0.00001
|
NM_014956.5(CEP164):c.3955G>A (p.Ala1319Thr)
|
rs769207410
|
0.00001
|
NM_014956.5(CEP164):c.4036T>C (p.Ser1346Pro)
|
rs774024619
|
0.00001
|
NM_014956.5(CEP164):c.4081C>T (p.Arg1361Cys)
|
rs753906680
|
0.00001
|
NM_014956.5(CEP164):c.4085A>G (p.Lys1362Arg)
|
rs1338246093
|
0.00001
|
NM_014956.5(CEP164):c.4096T>G (p.Ser1366Ala)
|
rs1360828180
|
0.00001
|
NM_014956.5(CEP164):c.4103T>C (p.Ile1368Thr)
|
rs180911439
|
0.00001
|
NM_014956.5(CEP164):c.4174C>T (p.Arg1392Trp)
|
rs769676851
|
0.00001
|
NM_014956.5(CEP164):c.4175G>A (p.Arg1392Gln)
|
rs772989312
|
0.00001
|
NM_014956.5(CEP164):c.418G>A (p.Val140Ile)
|
rs778310001
|
0.00001
|
NM_014956.5(CEP164):c.4211C>T (p.Ala1404Val)
|
rs191488031
|
0.00001
|
NM_014956.5(CEP164):c.422A>G (p.His141Arg)
|
rs200045306
|
0.00001
|
NM_014956.5(CEP164):c.452G>A (p.Arg151Gln)
|
rs564746056
|
0.00001
|
NM_014956.5(CEP164):c.485G>T (p.Arg162Leu)
|
rs139763142
|
0.00001
|
NM_014956.5(CEP164):c.50A>G (p.Asp17Gly)
|
rs140963454
|
0.00001
|
NM_014956.5(CEP164):c.530G>A (p.Arg177His)
|
rs199701600
|
0.00001
|
NM_014956.5(CEP164):c.678T>G (p.Ser226Arg)
|
rs199924960
|
0.00001
|
NM_014956.5(CEP164):c.698G>A (p.Ser233Asn)
|
rs755237805
|
0.00001
|
NM_014956.5(CEP164):c.760T>C (p.Tyr254His)
|
rs750854769
|
0.00001
|
NM_014956.5(CEP164):c.854C>G (p.Ser285Cys)
|
rs764958657
|
0.00001
|
NM_014956.5(CEP164):c.902G>A (p.Arg301Gln)
|
rs769627423
|
0.00001
|
NM_015102.4(NPHP4):c.-225G>A
|
rs886046469
|
0.00001
|
NM_015102.4(NPHP4):c.-237G>C
|
rs867788720
|
0.00001
|
NM_015102.5(NPHP4):c.*285G>A
|
rs1016860847
|
0.00001
|
NM_015102.5(NPHP4):c.*97T>A
|
rs1016911668
|
0.00001
|
NM_015102.5(NPHP4):c.-206C>A
|
rs539173372
|
0.00001
|
NM_015102.5(NPHP4):c.1006G>C (p.Ala336Pro)
|
rs369951224
|
0.00001
|
NM_015102.5(NPHP4):c.1047C>T (p.Val349=)
|
rs560597983
|
0.00001
|
NM_015102.5(NPHP4):c.1065G>A (p.Ala355=)
|
rs562484051
|
0.00001
|
NM_015102.5(NPHP4):c.1253C>T (p.Ser418Leu)
|
rs767476133
|
0.00001
|
NM_015102.5(NPHP4):c.135+15T>C
|
rs766470480
|
0.00001
|
NM_015102.5(NPHP4):c.1360C>T (p.His454Tyr)
|
rs374792772
|
0.00001
|
NM_015102.5(NPHP4):c.1397A>G (p.Lys466Arg)
|
rs373787394
|
0.00001
|
NM_015102.5(NPHP4):c.1405C>T (p.Arg469Trp)
|
rs758253306
|
0.00001
|
NM_015102.5(NPHP4):c.1406G>A (p.Arg469Gln)
|
rs1320696639
|
0.00001
|
NM_015102.5(NPHP4):c.1511T>G (p.Ile504Ser)
|
rs1209081705
|
0.00001
|
NM_015102.5(NPHP4):c.1675G>A (p.Val559Ile)
|
rs931907795
|
0.00001
|
NM_015102.5(NPHP4):c.1781C>T (p.Ser594Leu)
|
rs576761309
|
0.00001
|
NM_015102.5(NPHP4):c.1880C>T (p.Thr627Met)
|
rs199891059
|
0.00001
|
NM_015102.5(NPHP4):c.202C>T (p.Arg68Trp)
|
rs771873685
|
0.00001
|
NM_015102.5(NPHP4):c.2051A>G (p.Gln684Arg)
|
rs200667197
|
0.00001
|
NM_015102.5(NPHP4):c.2218C>T (p.Arg740Cys)
|
rs766088144
|
0.00001
|
NM_015102.5(NPHP4):c.2237C>G (p.Thr746Ser)
|
rs780500004
|
0.00001
|
NM_015102.5(NPHP4):c.2251G>A (p.Val751Ile)
|
rs754838672
|
0.00001
|
NM_015102.5(NPHP4):c.2304+5C>T
|
rs367651042
|
0.00001
|
NM_015102.5(NPHP4):c.2314C>T (p.Arg772Cys)
|
rs149928611
|
0.00001
|
NM_015102.5(NPHP4):c.2459G>A (p.Arg820Gln)
|
rs759656675
|
0.00001
|
NM_015102.5(NPHP4):c.2579G>A (p.Gly860Glu)
|
rs1487910110
|
0.00001
|
NM_015102.5(NPHP4):c.2701C>T (p.Pro901Ser)
|
rs886046464
|
0.00001
|
NM_015102.5(NPHP4):c.2710G>A (p.Val904Ile)
|
rs886046463
|
0.00001
|
NM_015102.5(NPHP4):c.2718C>T (p.Arg906=)
|
rs576473519
|
0.00001
|
NM_015102.5(NPHP4):c.2770C>G (p.Leu924Val)
|
rs770984804
|
0.00001
|
NM_015102.5(NPHP4):c.280-5T>G
|
rs908276068
|
0.00001
|
NM_015102.5(NPHP4):c.3027C>T (p.Ile1009=)
|
rs762202268
|
0.00001
|
NM_015102.5(NPHP4):c.3039G>C (p.Glu1013Asp)
|
rs747091960
|
0.00001
|
NM_015102.5(NPHP4):c.3227T>C (p.Val1076Ala)
|
rs201591531
|
0.00001
|
NM_015102.5(NPHP4):c.3404G>A (p.Arg1135His)
|
rs763251283
|
0.00001
|
NM_015102.5(NPHP4):c.3410A>G (p.Tyr1137Cys)
|
rs765444252
|
0.00001
|
NM_015102.5(NPHP4):c.3476C>T (p.Ala1159Val)
|
rs369021103
|
0.00001
|
NM_015102.5(NPHP4):c.3530C>T (p.Pro1177Leu)
|
rs749612555
|
0.00001
|
NM_015102.5(NPHP4):c.355C>T (p.Arg119Trp)
|
rs772214126
|
0.00001
|
NM_015102.5(NPHP4):c.3688C>G (p.Leu1230Val)
|
rs1226725565
|
0.00001
|
NM_015102.5(NPHP4):c.3704G>A (p.Arg1235His)
|
rs569553635
|
0.00001
|
NM_015102.5(NPHP4):c.3816+4C>T
|
rs764632297
|
0.00001
|
NM_015102.5(NPHP4):c.3864C>T (p.Asp1288=)
|
rs886046459
|
0.00001
|
NM_015102.5(NPHP4):c.3976C>T (p.Arg1326Cys)
|
rs531607950
|
0.00001
|
NM_015102.5(NPHP4):c.400C>T (p.Arg134Trp)
|
rs375476413
|
0.00001
|
NM_015102.5(NPHP4):c.4018G>A (p.Ala1340Thr)
|
rs958569972
|
0.00001
|
NM_015102.5(NPHP4):c.4220A>G (p.Tyr1407Cys)
|
rs373315843
|
0.00001
|
NM_015102.5(NPHP4):c.4239C>G (p.Asp1413Glu)
|
rs763112800
|
0.00001
|
NM_015102.5(NPHP4):c.452+3A>G
|
rs1426440104
|
0.00001
|
NM_015102.5(NPHP4):c.512C>T (p.Ala171Val)
|
rs763307389
|
0.00001
|
NM_015102.5(NPHP4):c.51C>A (p.His17Gln)
|
rs766636945
|
0.00001
|
NM_015102.5(NPHP4):c.559T>C (p.Tyr187His)
|
rs1027187670
|
0.00001
|
NM_015102.5(NPHP4):c.806A>C (p.Gln269Pro)
|
rs1182919955
|
0.00001
|
NM_015102.5(NPHP4):c.815G>A (p.Cys272Tyr)
|
rs1349348418
|
0.00001
|
NM_015102.5(NPHP4):c.821C>T (p.Pro274Leu)
|
rs752624938
|
0.00001
|
NM_025114.4(CEP290):c.-203C>A
|
rs961052158
|
0.00001
|
NM_025114.4(CEP290):c.-38G>C
|
rs886049886
|
0.00001
|
NM_025114.4(CEP290):c.1169A>G (p.Asn390Ser)
|
rs891165640
|
0.00001
|
NM_025114.4(CEP290):c.1214C>T (p.Thr405Ile)
|
rs781183605
|
0.00001
|
NM_025114.4(CEP290):c.1255A>G (p.Lys419Glu)
|
rs376808205
|
0.00001
|
NM_025114.4(CEP290):c.1345A>G (p.Lys449Glu)
|
rs747463477
|
0.00001
|
NM_025114.4(CEP290):c.1536G>T (p.Lys512Asn)
|
rs750163383
|
0.00001
|
NM_025114.4(CEP290):c.1623+2C>A
|
rs2039218006
|
0.00001
|
NM_025114.4(CEP290):c.1711+6C>T
|
rs1285486059
|
0.00001
|
NM_025114.4(CEP290):c.1765A>T (p.Ile589Leu)
|
rs770829686
|
0.00001
|
NM_025114.4(CEP290):c.2068A>C (p.Asn690His)
|
rs398124411
|
0.00001
|
NM_025114.4(CEP290):c.2113G>A (p.Val705Ile)
|
rs769216455
|
0.00001
|
NM_025114.4(CEP290):c.2216A>T (p.Lys739Met)
|
rs1378036383
|
0.00001
|
NM_025114.4(CEP290):c.2348A>G (p.Tyr783Cys)
|
rs780990839
|
0.00001
|
NM_025114.4(CEP290):c.2551G>A (p.Val851Ile)
|
rs764963626
|
0.00001
|
NM_025114.4(CEP290):c.274A>G (p.Met92Val)
|
rs951351175
|
0.00001
|
NM_025114.4(CEP290):c.2772G>A (p.Met924Ile)
|
rs1000757966
|
0.00001
|
NM_025114.4(CEP290):c.2839G>T (p.Ala947Ser)
|
rs967541984
|
0.00001
|
NM_025114.4(CEP290):c.2861A>G (p.Asp954Gly)
|
rs886049882
|
0.00001
|
NM_025114.4(CEP290):c.2974A>G (p.Asn992Asp)
|
rs1265448566
|
0.00001
|
NM_025114.4(CEP290):c.3176T>A (p.Ile1059Lys)
|
rs928926898
|
0.00001
|
NM_025114.4(CEP290):c.3203A>G (p.Asn1068Ser)
|
rs1276779845
|
0.00001
|
NM_025114.4(CEP290):c.3257C>T (p.Ser1086Leu)
|
rs760934388
|
0.00001
|
NM_025114.4(CEP290):c.3277C>T (p.Arg1093Cys)
|
rs778508890
|
0.00001
|
NM_025114.4(CEP290):c.3409C>T (p.Arg1137Trp)
|
rs759961956
|
0.00001
|
NM_025114.4(CEP290):c.3709C>T (p.Arg1237Cys)
|
rs768864296
|
0.00001
|
NM_025114.4(CEP290):c.3717G>A (p.Glu1239=)
|
rs1159465602
|
0.00001
|
NM_025114.4(CEP290):c.3731A>G (p.Glu1244Gly)
|
rs1342978055
|
0.00001
|
NM_025114.4(CEP290):c.3757C>T (p.Arg1253Cys)
|
rs547677441
|
0.00001
|
NM_025114.4(CEP290):c.3826G>A (p.Gly1276Arg)
|
rs267603712
|
0.00001
|
NM_025114.4(CEP290):c.3853A>G (p.Lys1285Glu)
|
rs765521933
|
0.00001
|
NM_025114.4(CEP290):c.3858C>A (p.Phe1286Leu)
|
rs1353300022
|
0.00001
|
NM_025114.4(CEP290):c.3899T>C (p.Ile1300Thr)
|
rs1460182061
|
0.00001
|
NM_025114.4(CEP290):c.4045A>G (p.Met1349Val)
|
rs923112337
|
0.00001
|
NM_025114.4(CEP290):c.4150C>T (p.Arg1384Cys)
|
rs794727563
|
0.00001
|
NM_025114.4(CEP290):c.4177A>G (p.Ile1393Val)
|
rs2036709987
|
0.00001
|
NM_025114.4(CEP290):c.4257C>A (p.Asp1419Glu)
|
rs771898047
|
0.00001
|
NM_025114.4(CEP290):c.4302+5G>A
|
rs1013125589
|
0.00001
|
NM_025114.4(CEP290):c.4383G>T (p.Lys1461Asn)
|
rs769732992
|
0.00001
|
NM_025114.4(CEP290):c.4697C>T (p.Ala1566Val)
|
rs751408783
|
0.00001
|
NM_025114.4(CEP290):c.4736A>T (p.Glu1579Val)
|
rs760059883
|
0.00001
|
NM_025114.4(CEP290):c.4812+6A>T
|
rs769525877
|
0.00001
|
NM_025114.4(CEP290):c.4817T>C (p.Leu1606Ser)
|
rs767636506
|
0.00001
|
NM_025114.4(CEP290):c.4854G>T (p.Lys1618Asn)
|
rs747852436
|
0.00001
|
NM_025114.4(CEP290):c.521A>T (p.Glu174Val)
|
rs774484028
|
0.00001
|
NM_025114.4(CEP290):c.533A>G (p.Gln178Arg)
|
rs773591434
|
0.00001
|
NM_025114.4(CEP290):c.5423G>A (p.Ser1808Asn)
|
rs763278328
|
0.00001
|
NM_025114.4(CEP290):c.5543A>G (p.Asp1848Gly)
|
rs563967678
|
0.00001
|
NM_025114.4(CEP290):c.5764A>C (p.Ile1922Leu)
|
rs746949236
|
0.00001
|
NM_025114.4(CEP290):c.5885G>A (p.Arg1962Lys)
|
rs562477272
|
0.00001
|
NM_025114.4(CEP290):c.5921T>C (p.Val1974Ala)
|
rs1354836663
|
0.00001
|
NM_025114.4(CEP290):c.6098A>G (p.Glu2033Gly)
|
rs756608200
|
0.00001
|
NM_025114.4(CEP290):c.6193A>G (p.Asn2065Asp)
|
rs886043119
|
0.00001
|
NM_025114.4(CEP290):c.6235C>A (p.Leu2079Ile)
|
rs753687613
|
0.00001
|
NM_025114.4(CEP290):c.6493A>T (p.Asn2165Tyr)
|
rs769886105
|
0.00001
|
NM_025114.4(CEP290):c.6624G>C (p.Arg2208Ser)
|
rs777841957
|
0.00001
|
NM_025114.4(CEP290):c.6859G>A (p.Ala2287Thr)
|
rs1212611161
|
0.00001
|
NM_025114.4(CEP290):c.6941A>G (p.Asn2314Ser)
|
rs148173636
|
0.00001
|
NM_025114.4(CEP290):c.79A>G (p.Asn27Asp)
|
rs753760503
|
0.00001
|
NM_025132.4(WDR19):c.1066G>A (p.Ala356Thr)
|
rs565630355
|
0.00001
|
NM_025132.4(WDR19):c.1093A>G (p.Thr365Ala)
|
rs745627337
|
0.00001
|
NM_025132.4(WDR19):c.1121A>G (p.Asn374Ser)
|
rs1729030821
|
0.00001
|
NM_025132.4(WDR19):c.1232A>G (p.Tyr411Cys)
|
rs761268969
|
0.00001
|
NM_025132.4(WDR19):c.1248T>C (p.Asn416=)
|
rs772867899
|
0.00001
|
NM_025132.4(WDR19):c.1466T>C (p.Ile489Thr)
|
rs1729266547
|
0.00001
|
NM_025132.4(WDR19):c.1477G>C (p.Asp493His)
|
rs587777349
|
0.00001
|
NM_025132.4(WDR19):c.1487T>C (p.Val496Ala)
|
rs772209665
|
0.00001
|
NM_025132.4(WDR19):c.14T>C (p.Phe5Ser)
|
rs1237494778
|
0.00001
|
NM_025132.4(WDR19):c.1522G>A (p.Val508Ile)
|
rs764106666
|
0.00001
|
NM_025132.4(WDR19):c.1535G>A (p.Arg512Gln)
|
rs537283735
|
0.00001
|
NM_025132.4(WDR19):c.1567G>A (p.Asp523Asn)
|
rs557405566
|
0.00001
|
NM_025132.4(WDR19):c.1679G>A (p.Gly560Asp)
|
rs375777724
|
0.00001
|
NM_025132.4(WDR19):c.1716A>G (p.Val572=)
|
rs1730484886
|
0.00001
|
NM_025132.4(WDR19):c.1749T>G (p.Thr583=)
|
rs767572787
|
0.00001
|
NM_025132.4(WDR19):c.1810G>C (p.Val604Leu)
|
rs1245108212
|
0.00001
|
NM_025132.4(WDR19):c.1841A>G (p.Tyr614Cys)
|
rs780273002
|
0.00001
|
NM_025132.4(WDR19):c.1927G>T (p.Asp643Tyr)
|
rs767757561
|
0.00001
|
NM_025132.4(WDR19):c.1956G>C (p.Met652Ile)
|
rs746795141
|
0.00001
|
NM_025132.4(WDR19):c.1993G>C (p.Ala665Pro)
|
rs753976268
|
0.00001
|
NM_025132.4(WDR19):c.2066T>C (p.Met689Thr)
|
rs780879248
|
0.00001
|
NM_025132.4(WDR19):c.2093A>C (p.Tyr698Ser)
|
rs370948119
|
0.00001
|
NM_025132.4(WDR19):c.2095C>T (p.Arg699Trp)
|
rs886042728
|
0.00001
|
NM_025132.4(WDR19):c.2189C>T (p.Thr730Ile)
|
rs1157984983
|
0.00001
|
NM_025132.4(WDR19):c.2192A>G (p.Asn731Ser)
|
rs777105752
|
0.00001
|
NM_025132.4(WDR19):c.2194G>A (p.Asp732Asn)
|
rs765614115
|
0.00001
|
NM_025132.4(WDR19):c.2253G>T (p.Glu751Asp)
|
rs1170632040
|
0.00001
|
NM_025132.4(WDR19):c.2272C>A (p.His758Asn)
|
rs577133819
|
0.00001
|
NM_025132.4(WDR19):c.2332T>A (p.Ser778Thr)
|
rs545547031
|
0.00001
|
NM_025132.4(WDR19):c.2521G>A (p.Val841Ile)
|
rs1349223638
|
0.00001
|
NM_025132.4(WDR19):c.2562+4C>G
|
rs1732285598
|
0.00001
|
NM_025132.4(WDR19):c.2618C>T (p.Ala873Val)
|
rs746141233
|
0.00001
|
NM_025132.4(WDR19):c.2669C>G (p.Pro890Arg)
|
rs1231847370
|
0.00001
|
NM_025132.4(WDR19):c.269G>A (p.Ser90Asn)
|
rs761275061
|
0.00001
|
NM_025132.4(WDR19):c.2710G>A (p.Ala904Thr)
|
rs1407602801
|
0.00001
|
NM_025132.4(WDR19):c.2779G>A (p.Val927Ile)
|
rs757105603
|
0.00001
|
NM_025132.4(WDR19):c.277G>C (p.Asp93His)
|
rs1725959489
|
0.00001
|
NM_025132.4(WDR19):c.2894G>T (p.Gly965Val)
|
rs778314721
|
0.00001
|
NM_025132.4(WDR19):c.2908G>A (p.Ala970Thr)
|
rs1733506402
|
0.00001
|
NM_025132.4(WDR19):c.2909C>T (p.Ala970Val)
|
rs771583357
|
0.00001
|
NM_025132.4(WDR19):c.2933A>G (p.Lys978Arg)
|
rs1733508675
|
0.00001
|
NM_025132.4(WDR19):c.2948C>T (p.Ala983Val)
|
rs1293022423
|
0.00001
|
NM_025132.4(WDR19):c.2T>C (p.Met1Thr)
|
rs1021076498
|
0.00001
|
NM_025132.4(WDR19):c.3001+3A>G
|
rs986476372
|
0.00001
|
NM_025132.4(WDR19):c.3001+6T>C
|
rs912115085
|
0.00001
|
NM_025132.4(WDR19):c.3013A>T (p.Thr1005Ser)
|
rs757632232
|
0.00001
|
NM_025132.4(WDR19):c.3049T>G (p.Phe1017Val)
|
rs778689889
|
0.00001
|
NM_025132.4(WDR19):c.3068A>C (p.Tyr1023Ser)
|
rs759424617
|
0.00001
|
NM_025132.4(WDR19):c.3114+3T>C
|
rs1275093466
|
0.00001
|
NM_025132.4(WDR19):c.3146C>T (p.Ser1049Leu)
|
rs763748984
|
0.00001
|
NM_025132.4(WDR19):c.3188G>A (p.Gly1063Asp)
|
rs760222006
|
0.00001
|
NM_025132.4(WDR19):c.3188G>T (p.Gly1063Val)
|
rs760222006
|
0.00001
|
NM_025132.4(WDR19):c.3253A>C (p.Met1085Leu)
|
rs1331013833
|
0.00001
|
NM_025132.4(WDR19):c.3358+3A>G
|
rs1263454874
|
0.00001
|
NM_025132.4(WDR19):c.3367C>T (p.Arg1123Trp)
|
rs369310189
|
0.00001
|
NM_025132.4(WDR19):c.3368G>A (p.Arg1123Gln)
|
rs764512369
|
0.00001
|
NM_025132.4(WDR19):c.3379G>A (p.Asp1127Asn)
|
rs767727756
|
0.00001
|
NM_025132.4(WDR19):c.3397T>C (p.Tyr1133His)
|
rs1187864679
|
0.00001
|
NM_025132.4(WDR19):c.3443C>T (p.Ala1148Val)
|
rs1235824066
|
0.00001
|
NM_025132.4(WDR19):c.3464A>C (p.His1155Pro)
|
rs774806370
|
0.00001
|
NM_025132.4(WDR19):c.3491T>A (p.Val1164Asp)
|
rs748465735
|
0.00001
|
NM_025132.4(WDR19):c.3565C>T (p.His1189Tyr)
|
rs778261943
|
0.00001
|
NM_025132.4(WDR19):c.3579C>G (p.Ile1193Met)
|
rs368286694
|
0.00001
|
NM_025132.4(WDR19):c.3646A>G (p.Met1216Val)
|
rs571331592
|
0.00001
|
NM_025132.4(WDR19):c.3808T>A (p.Cys1270Ser)
|
rs1035768119
|
0.00001
|
NM_025132.4(WDR19):c.3833T>C (p.Ile1278Thr)
|
rs1250445688
|
0.00001
|
NM_025132.4(WDR19):c.3847C>T (p.His1283Tyr)
|
rs1187043579
|
0.00001
|
NM_025132.4(WDR19):c.3875G>T (p.Cys1292Phe)
|
rs796543493
|
0.00001
|
NM_025132.4(WDR19):c.389G>A (p.Arg130Gln)
|
rs747065633
|
0.00001
|
NM_025132.4(WDR19):c.3964A>C (p.Asn1322His)
|
rs1158060361
|
0.00001
|
NM_025132.4(WDR19):c.3966C>A (p.Asn1322Lys)
|
rs767906377
|
0.00001
|
NM_025132.4(WDR19):c.3993C>G (p.Asp1331Glu)
|
rs778745769
|
0.00001
|
NM_025132.4(WDR19):c.404T>C (p.Leu135Pro)
|
rs1361187656
|
0.00001
|
NM_025132.4(WDR19):c.410A>G (p.Lys137Arg)
|
rs763605734
|
0.00001
|
NM_025132.4(WDR19):c.43G>A (p.Ala15Thr)
|
rs865806299
|
0.00001
|
NM_025132.4(WDR19):c.56T>G (p.Phe19Cys)
|
rs1247231925
|
0.00001
|
NM_025132.4(WDR19):c.6+3A>G
|
rs1415721879
|
0.00001
|
NM_025132.4(WDR19):c.603+3A>G
|
rs1727609864
|
0.00001
|
NM_025132.4(WDR19):c.621C>T (p.Gly207=)
|
rs1330119254
|
0.00001
|
NM_025132.4(WDR19):c.664C>G (p.Pro222Ala)
|
rs757241775
|
0.00001
|
NM_025132.4(WDR19):c.667G>A (p.Ala223Thr)
|
rs1371153516
|
0.00001
|
NM_025132.4(WDR19):c.710A>G (p.Tyr237Cys)
|
rs755629699
|
0.00001
|
NM_025132.4(WDR19):c.716+12A>G
|
rs779700299
|
0.00001
|
NM_025132.4(WDR19):c.802A>T (p.Ile268Leu)
|
rs372022021
|
0.00001
|
NM_025132.4(WDR19):c.8G>A (p.Arg3His)
|
rs922584346
|
0.00001
|
NM_025132.4(WDR19):c.906C>G (p.Asp302Glu)
|
rs763697118
|
0.00001
|
NM_025132.4(WDR19):c.931G>A (p.Val311Ile)
|
rs1300934052
|
0.00001
|
NM_025132.4(WDR19):c.977C>G (p.Ser326Cys)
|
rs1729012449
|
0.00001
|
NC_000001.10:g.(?_243303219)_(245027609_?)dup
|
|
|
NC_000001.10:g.(?_243349541)_(243419562_?)dup
|
|
|
NC_000001.10:g.(?_243437825)_(243437978_?)del
|
|
|
NC_000001.10:g.(?_243456373)_(243456541_?)del
|
|
|
NC_000001.10:g.(?_243493822)_(243494014_?)dup
|
|
|
NC_000001.10:g.(?_243504321)_(243507653_?)del
|
|
|
NC_000001.10:g.(?_243507497)_(243507653_?)del
|
|
|
NC_000001.10:g.(?_243578984)_(243589880_?)del
|
|
|
NC_000001.10:g.(?_243589709)_(243589880_?)del
|
|
|
NC_000004.11:g.(?_39184178)_(39259194_?)dup
|
|
|
NC_000004.11:g.(?_39226484)_(39226673_?)del
|
|
|
NC_000004.11:g.(?_39245868)_(39259174_?)del
|
|
|
NC_000011.9:g.(?_117209303)_(117222724_?)dup
|
|
|
NC_000011.9:g.(?_117209303)_(117234242_?)dup
|
|
|
NC_000011.9:g.(?_117232531)_(117233274_?)del
|
|
|
NC_000011.9:g.(?_117233107)_117234066del
|
|
|
NC_000011.9:g.(?_117261473)_(117342771_?)dup
|
|
|
NC_000011.9:g.(?_117278705)_(117284975_?)del
|
|
|
NM_000272.3(NPHP1):c.625-3dup
|
rs200118387
|
|
NM_001009894.3(RLIG1):c.*618TATT[1]
|
rs886049876
|
|
NM_001023570.4(IQCB1):c.*226T>C
|
rs886057822
|
|
NM_001023570.4(IQCB1):c.-154T>G
|
rs886057830
|
|
NM_001023570.4(IQCB1):c.-185C>G
|
rs553719849
|
|
NM_001023570.4(IQCB1):c.1135G>A (p.Val379Met)
|
rs886057825
|
|
NM_001023570.4(IQCB1):c.1250A>T (p.Tyr417Phe)
|
rs777697438
|
|
NM_001023570.4(IQCB1):c.1278+7C>T
|
rs112780863
|
|
NM_001023570.4(IQCB1):c.1319T>C (p.Leu440Pro)
|
rs749515337
|
|
NM_001023570.4(IQCB1):c.1450G>A (p.Ala484Thr)
|
rs776788131
|
|
NM_001023570.4(IQCB1):c.1544G>T (p.Ser515Ile)
|
rs886057823
|
|
NM_001023570.4(IQCB1):c.1567+2_*2del
|
|
|
NM_001023570.4(IQCB1):c.1595G>A (p.Gly532Glu)
|
rs200719828
|
|
NM_001023570.4(IQCB1):c.169G>T (p.Asp57Tyr)
|
rs1950530790
|
|
NM_001023570.4(IQCB1):c.1739A>C (p.Lys580Thr)
|
rs199775360
|
|
NM_001023570.4(IQCB1):c.214C>G (p.Arg72Gly)
|
rs201405662
|
|
NM_001023570.4(IQCB1):c.358A>T (p.Arg120Ter)
|
rs1372460709
|
|
NM_001023570.4(IQCB1):c.488-13dup
|
rs753164790
|
|
NM_001023570.4(IQCB1):c.491T>C (p.Leu164Pro)
|
rs746194022
|
|
NM_001023570.4(IQCB1):c.580A>T (p.Ile194Phe)
|
rs1412812453
|
|
NM_001023570.4(IQCB1):c.722A>G (p.His241Arg)
|
rs886057827
|
|
NM_001023570.4(IQCB1):c.791A>C (p.Gln264Pro)
|
rs1949231887
|
|
NM_001128178.3(NPHP1):c.*199A>G
|
rs1679131109
|
|
NM_001128178.3(NPHP1):c.*333AAC[1]
|
rs555468187
|
|
NM_001128178.3(NPHP1):c.1165C>T (p.Arg389Cys)
|
rs375907280
|
|
NM_001128178.3(NPHP1):c.1279G>C (p.Glu427Gln)
|
rs886054753
|
|
NM_001128178.3(NPHP1):c.137A>G (p.Tyr46Cys)
|
rs1212780955
|
|
NM_001128178.3(NPHP1):c.1462A>G (p.Met488Val)
|
rs373953762
|
|
NM_001128178.3(NPHP1):c.1522G>C (p.Val508Leu)
|
rs573192954
|
|
NM_001128178.3(NPHP1):c.1534C>T (p.Leu512=)
|
rs1679799639
|
|
NM_001128178.3(NPHP1):c.1708G>A (p.Ala570Thr)
|
rs372893275
|
|
NM_001128178.3(NPHP1):c.1717-5T>G
|
rs1679303713
|
|
NM_001128178.3(NPHP1):c.1804C>G (p.His602Asp)
|
rs538690900
|
|
NM_001128178.3(NPHP1):c.1882C>T (p.Arg628Trp)
|
rs141686332
|
|
NM_001128178.3(NPHP1):c.1933G>A (p.Ala645Thr)
|
rs201077898
|
|
NM_001128178.3(NPHP1):c.30C>T (p.Leu10=)
|
rs977347524
|
|
NM_001128178.3(NPHP1):c.352G>A (p.Glu118Lys)
|
rs1408606648
|
|
NM_001128178.3(NPHP1):c.404A>G (p.Asp135Gly)
|
rs747176517
|
|
NM_001128178.3(NPHP1):c.44G>T (p.Arg15Leu)
|
rs774386187
|
|
NM_001128178.3(NPHP1):c.522+5_522+8del
|
rs1411070570
|
|
NM_001128178.3(NPHP1):c.593A>G (p.Asn198Ser)
|
rs886054756
|
|
NM_001128178.3(NPHP1):c.635AAG[5] (p.Glu215dup)
|
rs777677768
|
|
NM_001128178.3(NPHP1):c.669C>T (p.Gly223=)
|
rs886054755
|
|
NM_001128178.3(NPHP1):c.678A>C (p.Glu226Asp)
|
rs947765689
|
|
NM_001128178.3(NPHP1):c.712G>T (p.Ala238Ser)
|
rs201661196
|
|
NM_001128178.3(NPHP1):c.771+136C>A
|
rs142670785
|
|
NM_001128178.3(NPHP1):c.771+148G>T
|
rs753796140
|
|
NM_001128178.3(NPHP1):c.771+178C>T
|
rs767903893
|
|
NM_001128178.3(NPHP1):c.772-5T>C
|
rs201478764
|
|
NM_001128178.3(NPHP1):c.820G>C (p.Gly274Arg)
|
rs886054754
|
|
NM_005465.7(AKT3):c.*5155_*5159dup
|
rs577416381
|
|
NM_006642.5(SDCCAG8):c.*149T>C
|
rs1057515424
|
|
NM_006642.5(SDCCAG8):c.*214_*217dup
|
rs1057515485
|
|
NM_006642.5(SDCCAG8):c.*287A>G
|
rs1057515459
|
|
NM_006642.5(SDCCAG8):c.-98C>T
|
rs886046329
|
|
NM_006642.5(SDCCAG8):c.1027G>A (p.Val343Ile)
|
rs760942783
|
|
NM_006642.5(SDCCAG8):c.103G>T (p.Ala35Ser)
|
|
|
NM_006642.5(SDCCAG8):c.1053T>C (p.Asn351=)
|
|
|
NM_006642.5(SDCCAG8):c.1062A>C (p.Lys354Asn)
|
|
|
NM_006642.5(SDCCAG8):c.1069-3C>T
|
|
|
NM_006642.5(SDCCAG8):c.1079A>C (p.Gln360Pro)
|
|
|
NM_006642.5(SDCCAG8):c.1109G>T (p.Arg370Met)
|
rs1471866292
|
|
NM_006642.5(SDCCAG8):c.1117G>A (p.Glu373Lys)
|
|
|
NM_006642.5(SDCCAG8):c.1151A>G (p.Glu384Gly)
|
rs2074516888
|
|
NM_006642.5(SDCCAG8):c.1158G>C (p.Arg386Ser)
|
|
|
NM_006642.5(SDCCAG8):c.1171G>A (p.Asp391Asn)
|
rs2149349477
|
|
NM_006642.5(SDCCAG8):c.1176G>A (p.Met392Ile)
|
|
|
NM_006642.5(SDCCAG8):c.1178T>A (p.Met393Lys)
|
|
|
NM_006642.5(SDCCAG8):c.117C>A (p.Gly39=)
|
rs778405068
|
|
NM_006642.5(SDCCAG8):c.1186G>A (p.Glu396Lys)
|
|
|
NM_006642.5(SDCCAG8):c.118G>A (p.Asp40Asn)
|
|
|
NM_006642.5(SDCCAG8):c.1193C>T (p.Thr398Met)
|
|
|
NM_006642.5(SDCCAG8):c.11C>G (p.Ser4Cys)
|
|
|
NM_006642.5(SDCCAG8):c.1221+4C>G
|
|
|
NM_006642.5(SDCCAG8):c.122T>C (p.Val41Ala)
|
rs2067972241
|
|
NM_006642.5(SDCCAG8):c.1234T>A (p.Ser412Thr)
|
|
|
NM_006642.5(SDCCAG8):c.1244T>C (p.Ile415Thr)
|
|
|
NM_006642.5(SDCCAG8):c.124A>G (p.Thr42Ala)
|
|
|
NM_006642.5(SDCCAG8):c.1273G>A (p.Val425Ile)
|
rs370072966
|
|
NM_006642.5(SDCCAG8):c.1273G>T (p.Val425Phe)
|
rs370072966
|
|
NM_006642.5(SDCCAG8):c.1283A>G (p.Glu428Gly)
|
rs1364309751
|
|
NM_006642.5(SDCCAG8):c.1301A>T (p.Asn434Ile)
|
|
|
NM_006642.5(SDCCAG8):c.1306C>G (p.Leu436Val)
|
|
|
NM_006642.5(SDCCAG8):c.1309G>C (p.Glu437Gln)
|
|
|
NM_006642.5(SDCCAG8):c.1343T>G (p.Met448Arg)
|
rs1015302300
|
|
NM_006642.5(SDCCAG8):c.1356G>A (p.Lys452=)
|
rs1057515483
|
|
NM_006642.5(SDCCAG8):c.1358T>C (p.Val453Ala)
|
|
|
NM_006642.5(SDCCAG8):c.1360T>C (p.Cys454Arg)
|
|
|
NM_006642.5(SDCCAG8):c.136G>C (p.Asp46His)
|
rs2067972892
|
|
NM_006642.5(SDCCAG8):c.1370T>A (p.Met457Lys)
|
rs1250974056
|
|
NM_006642.5(SDCCAG8):c.1397T>G (p.Met466Arg)
|
rs2147791053
|
|
NM_006642.5(SDCCAG8):c.1411G>A (p.Ala471Thr)
|
rs775752533
|
|
NM_006642.5(SDCCAG8):c.1420G>A (p.Glu474Lys)
|
rs2075566223
|
|
NM_006642.5(SDCCAG8):c.1421A>C (p.Glu474Ala)
|
|
|
NM_006642.5(SDCCAG8):c.1426A>G (p.Arg476Gly)
|
rs2147791136
|
|
NM_006642.5(SDCCAG8):c.1439C>A (p.Ala480Glu)
|
|
|
NM_006642.5(SDCCAG8):c.1452G>C (p.Arg484Ser)
|
|
|
NM_006642.5(SDCCAG8):c.1498C>A (p.Leu500Met)
|
|
|
NM_006642.5(SDCCAG8):c.1519T>G (p.Leu507Val)
|
rs1558382581
|
|
NM_006642.5(SDCCAG8):c.152C>T (p.Ser51Phe)
|
rs2067973932
|
|
NM_006642.5(SDCCAG8):c.1574C>A (p.Thr525Lys)
|
rs999154575
|
|
NM_006642.5(SDCCAG8):c.1594G>A (p.Glu532Lys)
|
rs753709808
|
|
NM_006642.5(SDCCAG8):c.1610T>G (p.Leu537Arg)
|
rs1032332223
|
|
NM_006642.5(SDCCAG8):c.1646T>C (p.Phe549Ser)
|
rs2080530513
|
|
NM_006642.5(SDCCAG8):c.1691A>G (p.Glu564Gly)
|
|
|
NM_006642.5(SDCCAG8):c.1695G>A (p.Gln565=)
|
rs2080533501
|
|
NM_006642.5(SDCCAG8):c.1696G>A (p.Glu566Lys)
|
|
|
NM_006642.5(SDCCAG8):c.1699C>G (p.Leu567Val)
|
|
|
NM_006642.5(SDCCAG8):c.169G>A (p.Gly57Arg)
|
rs2067975157
|
|
NM_006642.5(SDCCAG8):c.16G>C (p.Glu6Gln)
|
rs1201744229
|
|
NM_006642.5(SDCCAG8):c.1727C>T (p.Ala576Val)
|
rs766677544
|
|
NM_006642.5(SDCCAG8):c.1745-7T>A
|
rs532763241
|
|
NM_006642.5(SDCCAG8):c.1756T>A (p.Tyr586Asn)
|
|
|
NM_006642.5(SDCCAG8):c.1764G>A (p.Leu588=)
|
|
|
NM_006642.5(SDCCAG8):c.1769C>A (p.Thr590Asn)
|
rs2148018533
|
|
NM_006642.5(SDCCAG8):c.181G>A (p.Ala61Thr)
|
|
|
NM_006642.5(SDCCAG8):c.181G>T (p.Ala61Ser)
|
rs149928402
|
|
NM_006642.5(SDCCAG8):c.182C>A (p.Ala61Asp)
|
|
|
NM_006642.5(SDCCAG8):c.1837A>G (p.Ile613Val)
|
rs2148018705
|
|
NM_006642.5(SDCCAG8):c.1854A>G (p.Arg618=)
|
|
|
NM_006642.5(SDCCAG8):c.1886G>T (p.Arg629Met)
|
rs548855151
|
|
NM_006642.5(SDCCAG8):c.191C>T (p.Ala64Val)
|
|
|
NM_006642.5(SDCCAG8):c.1931A>G (p.Glu644Gly)
|
|
|
NM_006642.5(SDCCAG8):c.1933T>A (p.Leu645Met)
|
|
|
NM_006642.5(SDCCAG8):c.1944G>C (p.Gln648His)
|
rs2148043381
|
|
NM_006642.5(SDCCAG8):c.1966C>A (p.His656Asn)
|
rs1262692904
|
|
NM_006642.5(SDCCAG8):c.1967A>G (p.His656Arg)
|
|
|
NM_006642.5(SDCCAG8):c.1984A>G (p.Arg662Gly)
|
|
|
NM_006642.5(SDCCAG8):c.1992_2009dup (p.His669_Ser670insArgGlnLeuAspLysHis)
|
rs2148266803
|
|
NM_006642.5(SDCCAG8):c.2021C>T (p.Ala674Val)
|
|
|
NM_006642.5(SDCCAG8):c.2053A>T (p.Asn685Tyr)
|
rs2148267056
|
|
NM_006642.5(SDCCAG8):c.2078G>A (p.Ser693Asn)
|
|
|
NM_006642.5(SDCCAG8):c.2091G>T (p.Glu697Asp)
|
|
|
NM_006642.5(SDCCAG8):c.2098C>T (p.Arg700Trp)
|
rs369591883
|
|
NM_006642.5(SDCCAG8):c.209A>C (p.Gln70Pro)
|
|
|
NM_006642.5(SDCCAG8):c.2104C>T (p.Arg702Trp)
|
|
|
NM_006642.5(SDCCAG8):c.2105G>A (p.Arg702Gln)
|
rs2148267381
|
|
NM_006642.5(SDCCAG8):c.2108C>T (p.Thr703Ile)
|
|
|
NM_006642.5(SDCCAG8):c.2112+2T>C
|
|
|
NM_006642.5(SDCCAG8):c.2113-1G>T
|
|
|
NM_006642.5(SDCCAG8):c.2124G>A (p.Met708Ile)
|
rs1669058410
|
|
NM_006642.5(SDCCAG8):c.2139_2141dup (p.Cys713dup)
|
rs1268199421
|
|
NM_006642.5(SDCCAG8):c.22T>C (p.Ser8Pro)
|
rs1193390013
|
|
NM_006642.5(SDCCAG8):c.244C>A (p.Arg82Ser)
|
rs143447584
|
|
NM_006642.5(SDCCAG8):c.245G>T (p.Arg82Leu)
|
|
|
NM_006642.5(SDCCAG8):c.263A>G (p.Glu88Gly)
|
|
|
NM_006642.5(SDCCAG8):c.277C>T (p.Pro93Ser)
|
rs1284369812
|
|
NM_006642.5(SDCCAG8):c.278C>T (p.Pro93Leu)
|
rs140413256
|
|
NM_006642.5(SDCCAG8):c.284GAA[2] (p.Arg97del)
|
rs751190536
|
|
NM_006642.5(SDCCAG8):c.306+11A>G
|
rs781456866
|
|
NM_006642.5(SDCCAG8):c.309G>T (p.Arg103Ser)
|
|
|
NM_006642.5(SDCCAG8):c.31G>C (p.Glu11Gln)
|
rs773442925
|
|
NM_006642.5(SDCCAG8):c.331A>G (p.Asn111Asp)
|
|
|
NM_006642.5(SDCCAG8):c.359A>T (p.His120Leu)
|
|
|
NM_006642.5(SDCCAG8):c.374A>C (p.Gln125Pro)
|
rs2149268706
|
|
NM_006642.5(SDCCAG8):c.398A>G (p.Glu133Gly)
|
|
|
NM_006642.5(SDCCAG8):c.416G>T (p.Cys139Phe)
|
rs773522256
|
|
NM_006642.5(SDCCAG8):c.420+12A>G
|
rs2068379887
|
|
NM_006642.5(SDCCAG8):c.420+5G>A
|
|
|
NM_006642.5(SDCCAG8):c.420G>T (p.Lys140Asn)
|
|
|
NM_006642.5(SDCCAG8):c.426A>T (p.Glu142Asp)
|
|
|
NM_006642.5(SDCCAG8):c.427C>G (p.Leu143Val)
|
rs371179612
|
|
NM_006642.5(SDCCAG8):c.431C>T (p.Ser144Phe)
|
rs1453249734
|
|
NM_006642.5(SDCCAG8):c.439A>G (p.Lys147Glu)
|
|
|
NM_006642.5(SDCCAG8):c.43G>A (p.Gly15Arg)
|
|
|
NM_006642.5(SDCCAG8):c.452A>G (p.Gln151Arg)
|
|
|
NM_006642.5(SDCCAG8):c.472G>A (p.Glu158Lys)
|
|
|
NM_006642.5(SDCCAG8):c.48G>T (p.Gln16His)
|
rs1398602761
|
|
NM_006642.5(SDCCAG8):c.547-3T>C
|
|
|
NM_006642.5(SDCCAG8):c.553A>G (p.Met185Val)
|
|
|
NM_006642.5(SDCCAG8):c.557A>C (p.His186Pro)
|
|
|
NM_006642.5(SDCCAG8):c.557A>G (p.His186Arg)
|
|
|
NM_006642.5(SDCCAG8):c.578G>C (p.Gly193Ala)
|
rs750128305
|
|
NM_006642.5(SDCCAG8):c.597C>A (p.Gly199=)
|
rs143407309
|
|
NM_006642.5(SDCCAG8):c.620C>T (p.Ser207Phe)
|
rs1182767716
|
|
NM_006642.5(SDCCAG8):c.62_64dup (p.Leu21_Arg22insLeu)
|
|
|
NM_006642.5(SDCCAG8):c.655G>T (p.Ala219Ser)
|
rs2149295739
|
|
NM_006642.5(SDCCAG8):c.675+5G>C
|
rs968117633
|
|
NM_006642.5(SDCCAG8):c.676-3T>C
|
|
|
NM_006642.5(SDCCAG8):c.682C>G (p.Leu228Val)
|
|
|
NM_006642.5(SDCCAG8):c.683T>C (p.Leu228Pro)
|
rs776422346
|
|
NM_006642.5(SDCCAG8):c.68A>G (p.Glu23Gly)
|
rs2067967236
|
|
NM_006642.5(SDCCAG8):c.71A>G (p.His24Arg)
|
|
|
NM_006642.5(SDCCAG8):c.721T>C (p.Ser241Pro)
|
|
|
NM_006642.5(SDCCAG8):c.745G>T (p.Asp249Tyr)
|
|
|
NM_006642.5(SDCCAG8):c.760C>G (p.Gln254Glu)
|
rs2149319564
|
|
NM_006642.5(SDCCAG8):c.761A>G (p.Gln254Arg)
|
|
|
NM_006642.5(SDCCAG8):c.766A>C (p.Thr256Pro)
|
rs2072330865
|
|
NM_006642.5(SDCCAG8):c.76A>G (p.Ser26Gly)
|
rs1179385721
|
|
NM_006642.5(SDCCAG8):c.799A>T (p.Lys267Ter)
|
rs1558269718
|
|
NM_006642.5(SDCCAG8):c.815C>T (p.Ala272Val)
|
|
|
NM_006642.5(SDCCAG8):c.83G>A (p.Ser28Asn)
|
rs2149262996
|
|
NM_006642.5(SDCCAG8):c.865C>T (p.His289Tyr)
|
|
|
NM_006642.5(SDCCAG8):c.916G>A (p.Glu306Lys)
|
rs777002036
|
|
NM_006642.5(SDCCAG8):c.921A>T (p.Arg307Ser)
|
rs2072347543
|
|
NM_006642.5(SDCCAG8):c.952G>C (p.Ala318Pro)
|
rs2073277628
|
|
NM_006642.5(SDCCAG8):c.953C>T (p.Ala318Val)
|
|
|
NM_006642.5(SDCCAG8):c.966_977dup (p.Arg323_Leu326dup)
|
rs1365929568
|
|
NM_006642.5(SDCCAG8):c.986C>G (p.Thr329Arg)
|
|
|
NM_006642.5(SDCCAG8):c.998A>T (p.Glu333Val)
|
rs2149331580
|
|
NM_014956.5(CEP164):c.1003A>G (p.Thr335Ala)
|
rs2042173963
|
|
NM_014956.5(CEP164):c.100C>G (p.Arg34Gly)
|
rs775902514
|
|
NM_014956.5(CEP164):c.101G>A (p.Arg34Gln)
|
|
|
NM_014956.5(CEP164):c.101G>T (p.Arg34Leu)
|
rs760829793
|
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NM_014956.5(CEP164):c.1033A>C (p.Lys345Gln)
|
|
|
NM_014956.5(CEP164):c.1052C>T (p.Thr351Ile)
|
|
|
NM_014956.5(CEP164):c.1054G>A (p.Val352Ile)
|
|
|
NM_014956.5(CEP164):c.1055_1057del (p.Val352del)
|
|
|
NM_014956.5(CEP164):c.1058A>G (p.Asp353Gly)
|
rs2135917595
|
|
NM_014956.5(CEP164):c.1067AGG[3] (p.Glu357dup)
|
rs2042177715
|
|
NM_014956.5(CEP164):c.1075T>C (p.Ser359Pro)
|
|
|
NM_014956.5(CEP164):c.1083_1084delinsAA (p.Glu362Lys)
|
rs2135917914
|
|
NM_014956.5(CEP164):c.1089G>T (p.Glu363Asp)
|
rs748917124
|
|
NM_014956.5(CEP164):c.1114G>A (p.Ala372Thr)
|
rs2042180668
|
|
NM_014956.5(CEP164):c.1117T>C (p.Ser373Pro)
|
rs2042181037
|
|
NM_014956.5(CEP164):c.1136G>A (p.Ser379Asn)
|
rs374832717
|
|
NM_014956.5(CEP164):c.1137T>A (p.Ser379Arg)
|
rs550044351
|
|
NM_014956.5(CEP164):c.1152+2dup
|
rs1592221277
|
|
NM_014956.5(CEP164):c.1159G>A (p.Glu387Lys)
|
rs2135971658
|
|
NM_014956.5(CEP164):c.1176G>T (p.Met392Ile)
|
rs759452273
|
|
NM_014956.5(CEP164):c.121A>G (p.Ile41Val)
|
|
|
NM_014956.5(CEP164):c.1229G>A (p.Gly410Asp)
|
rs1394172852
|
|
NM_014956.5(CEP164):c.1234G>A (p.Asp412Asn)
|
rs2042669971
|
|
NM_014956.5(CEP164):c.1240G>A (p.Gly414Ser)
|
rs2042670551
|
|
NM_014956.5(CEP164):c.1247G>A (p.Arg416His)
|
|
|
NM_014956.5(CEP164):c.1266C>G (p.His422Gln)
|
|
|
NM_014956.5(CEP164):c.1273G>T (p.Asp425Tyr)
|
|
|
NM_014956.5(CEP164):c.127G>C (p.Glu43Gln)
|
rs2038553739
|
|
NM_014956.5(CEP164):c.1283T>G (p.Val428Gly)
|
rs2136011109
|
|
NM_014956.5(CEP164):c.1289C>T (p.Ser430Phe)
|
rs2042677558
|
|
NM_014956.5(CEP164):c.1312C>T (p.Arg438Trp)
|
|
|
NM_014956.5(CEP164):c.1316A>C (p.Gln439Pro)
|
rs143370558
|
|
NM_014956.5(CEP164):c.1317+3G>A
|
rs886038607
|
|
NM_014956.5(CEP164):c.1343A>G (p.Asp448Gly)
|
|
|
NM_014956.5(CEP164):c.1370A>G (p.Asp457Gly)
|
rs2136117768
|
|
NM_014956.5(CEP164):c.1397G>C (p.Gly466Ala)
|
rs2136118190
|
|
NM_014956.5(CEP164):c.1402G>A (p.Glu468Lys)
|
rs2043218577
|
|
NM_014956.5(CEP164):c.1409+3A>T
|
|
|
NM_014956.5(CEP164):c.1410G>A (p.Arg470=)
|
|
|
NM_014956.5(CEP164):c.1421C>T (p.Pro474Leu)
|
|
|
NM_014956.5(CEP164):c.1432G>A (p.Glu478Lys)
|
rs1565542472
|
|
NM_014956.5(CEP164):c.1454C>G (p.Pro485Arg)
|
rs1277555628
|
|
NM_014956.5(CEP164):c.1454C>T (p.Pro485Leu)
|
|
|
NM_014956.5(CEP164):c.1466C>T (p.Ala489Val)
|
rs868163339
|
|
NM_014956.5(CEP164):c.1474G>A (p.Glu492Lys)
|
rs757278608
|
|
NM_014956.5(CEP164):c.1477G>C (p.Glu493Gln)
|
rs2136140136
|
|
NM_014956.5(CEP164):c.1480C>T (p.Pro494Ser)
|
rs114396665
|
|
NM_014956.5(CEP164):c.1496A>G (p.Glu499Gly)
|
|
|
NM_014956.5(CEP164):c.1508A>T (p.Glu503Val)
|
rs1293561746
|
|
NM_014956.5(CEP164):c.152G>A (p.Arg51Gln)
|
|
|
NM_014956.5(CEP164):c.154G>C (p.Glu52Gln)
|
|
|
NM_014956.5(CEP164):c.1552C>T (p.Leu518Phe)
|
rs2043350919
|
|
NM_014956.5(CEP164):c.1553T>C (p.Leu518Pro)
|
|
|
NM_014956.5(CEP164):c.1568C>A (p.Ser523Tyr)
|
rs997835172
|
|
NM_014956.5(CEP164):c.1568C>T (p.Ser523Phe)
|
rs997835172
|
|
NM_014956.5(CEP164):c.1589C>T (p.Pro530Leu)
|
|
|
NM_014956.5(CEP164):c.1607G>A (p.Cys536Tyr)
|
rs112527080
|
|
NM_014956.5(CEP164):c.160A>T (p.Ile54Phe)
|
|
|
NM_014956.5(CEP164):c.1615G>C (p.Gly539Arg)
|
rs758286092
|
|
NM_014956.5(CEP164):c.1616G>C (p.Gly539Ala)
|
rs200464405
|
|
NM_014956.5(CEP164):c.1637C>T (p.Ala546Val)
|
|
|
NM_014956.5(CEP164):c.1667C>A (p.Ala556Glu)
|
rs1053615798
|
|
NM_014956.5(CEP164):c.1669G>A (p.Glu557Lys)
|
|
|
NM_014956.5(CEP164):c.1670A>C (p.Glu557Ala)
|
|
|
NM_014956.5(CEP164):c.1678GAG[1] (p.Glu561del)
|
rs771007283
|
|
NM_014956.5(CEP164):c.1727G>T (p.Arg576Leu)
|
rs757579833
|
|
NM_014956.5(CEP164):c.1733C>T (p.Thr578Ile)
|
|
|
NM_014956.5(CEP164):c.1736A>G (p.Glu579Gly)
|
rs2136244485
|
|
NM_014956.5(CEP164):c.1738C>A (p.Pro580Thr)
|
rs758890143
|
|
NM_014956.5(CEP164):c.1747C>G (p.Pro583Ala)
|
rs865780691
|
|
NM_014956.5(CEP164):c.1751C>A (p.Pro584Gln)
|
rs1565560519
|
|
NM_014956.5(CEP164):c.1766A>G (p.Glu589Gly)
|
rs2136244992
|
|
NM_014956.5(CEP164):c.1771G>A (p.Ala591Thr)
|
|
|
NM_014956.5(CEP164):c.1781C>G (p.Ala594Gly)
|
|
|
NM_014956.5(CEP164):c.1783A>G (p.Met595Val)
|
|
|
NM_014956.5(CEP164):c.1792G>T (p.Ala598Ser)
|
rs150956860
|
|
NM_014956.5(CEP164):c.1884G>C (p.Glu628Asp)
|
|
|
NM_014956.5(CEP164):c.1903C>T (p.Arg635Trp)
|
|
|
NM_014956.5(CEP164):c.1909C>A (p.His637Asn)
|
rs2044090246
|
|
NM_014956.5(CEP164):c.1915C>A (p.Gln639Lys)
|
rs2044090670
|
|
NM_014956.5(CEP164):c.191C>T (p.Pro64Leu)
|
|
|
NM_014956.5(CEP164):c.1923G>T (p.Glu641Asp)
|
rs1435675301
|
|
NM_014956.5(CEP164):c.1928C>T (p.Ser643Phe)
|
rs2136247338
|
|
NM_014956.5(CEP164):c.194+15G>T
|
rs1423887740
|
|
NM_014956.5(CEP164):c.1949G>A (p.Arg650Gln)
|
|
|
NM_014956.5(CEP164):c.195-10C>A
|
|
|
NM_014956.5(CEP164):c.1966G>A (p.Glu656Lys)
|
rs746865666
|
|
NM_014956.5(CEP164):c.1967AGG[3] (p.Glu659del)
|
rs1393409770
|
|
NM_014956.5(CEP164):c.1990G>C (p.Glu664Gln)
|
|
|
NM_014956.5(CEP164):c.2027A>C (p.Gln676Pro)
|
rs776074093
|
|
NM_014956.5(CEP164):c.2065A>G (p.Arg689Gly)
|
|
|
NM_014956.5(CEP164):c.2089C>A (p.Gln697Lys)
|
rs1332049981
|
|
NM_014956.5(CEP164):c.2112G>C (p.Glu704Asp)
|
rs778301430
|
|
NM_014956.5(CEP164):c.2113T>A (p.Ser705Thr)
|
rs2136323032
|
|
NM_014956.5(CEP164):c.2126C>T (p.Ala709Val)
|
rs2136323172
|
|
NM_014956.5(CEP164):c.214A>G (p.Ile72Val)
|
|
|
NM_014956.5(CEP164):c.2165T>C (p.Leu722Pro)
|
|
|
NM_014956.5(CEP164):c.2186T>G (p.Ile729Arg)
|
|
|
NM_014956.5(CEP164):c.2188G>A (p.Glu730Lys)
|
rs2136324049
|
|
NM_014956.5(CEP164):c.2201A>C (p.Lys734Thr)
|
|
|
NM_014956.5(CEP164):c.2233_2235del (p.Glu745del)
|
|
|
NM_014956.5(CEP164):c.2242C>G (p.Leu748Val)
|
rs763926600
|
|
NM_014956.5(CEP164):c.2269G>A (p.Gly757Arg)
|
rs757911593
|
|
NM_014956.5(CEP164):c.2272G>A (p.Glu758Lys)
|
|
|
NM_014956.5(CEP164):c.2290G>A (p.Ala764Thr)
|
|
|
NM_014956.5(CEP164):c.2303A>G (p.Lys768Arg)
|
|
|
NM_014956.5(CEP164):c.2312G>C (p.Ser771Thr)
|
rs1565578311
|
|
NM_014956.5(CEP164):c.2327G>C (p.Arg776Pro)
|
|
|
NM_014956.5(CEP164):c.232G>A (p.Ala78Thr)
|
|
|
NM_014956.5(CEP164):c.233C>G (p.Ala78Gly)
|
rs2039670463
|
|
NM_014956.5(CEP164):c.2359G>A (p.Glu787Lys)
|
|
|
NM_014956.5(CEP164):c.2362G>A (p.Val788Met)
|
rs2044795731
|
|
NM_014956.5(CEP164):c.2431C>T (p.Leu811Phe)
|
|
|
NM_014956.5(CEP164):c.2451A>C (p.Arg817Ser)
|
|
|
NM_014956.5(CEP164):c.2472C>A (p.His824Gln)
|
|
|
NM_014956.5(CEP164):c.2490C>G (p.His830Gln)
|
rs532278621
|
|
NM_014956.5(CEP164):c.2492A>G (p.Glu831Gly)
|
|
|
NM_014956.5(CEP164):c.2501G>C (p.Ser834Thr)
|
|
|
NM_014956.5(CEP164):c.2514G>C (p.Glu838Asp)
|
rs1395693893
|
|
NM_014956.5(CEP164):c.2518C>A (p.Arg840Ser)
|
|
|
NM_014956.5(CEP164):c.2518C>T (p.Arg840Cys)
|
|
|
NM_014956.5(CEP164):c.2519G>A (p.Arg840His)
|
rs201901144
|
|
NM_014956.5(CEP164):c.2527G>A (p.Val843Met)
|
rs566117718
|
|
NM_014956.5(CEP164):c.2530G>A (p.Glu844Lys)
|
|
|
NM_014956.5(CEP164):c.2534_2535delinsAA (p.Gly845Glu)
|
|
|
NM_014956.5(CEP164):c.2561T>C (p.Met854Thr)
|
|
|
NM_014956.5(CEP164):c.2574C>A (p.His858Gln)
|
|
|
NM_014956.5(CEP164):c.2585T>C (p.Met862Thr)
|
rs371143032
|
|
NM_014956.5(CEP164):c.2609A>C (p.Glu870Ala)
|
|
|
NM_014956.5(CEP164):c.2616+5C>G
|
rs2136378582
|
|
NM_014956.5(CEP164):c.2618A>T (p.Glu873Val)
|
rs2045131646
|
|
NM_014956.5(CEP164):c.2627A>G (p.Gln876Arg)
|
rs752659513
|
|
NM_014956.5(CEP164):c.2637G>C (p.Glu879Asp)
|
|
|
NM_014956.5(CEP164):c.2644G>C (p.Gly882Arg)
|
|
|
NM_014956.5(CEP164):c.2648A>C (p.His883Pro)
|
|
|
NM_014956.5(CEP164):c.2651T>C (p.Leu884Pro)
|
|
|
NM_014956.5(CEP164):c.2651T>G (p.Leu884Arg)
|
|
|
NM_014956.5(CEP164):c.2684A>G (p.His895Arg)
|
|
|
NM_014956.5(CEP164):c.268G>C (p.Glu90Gln)
|
|
|
NM_014956.5(CEP164):c.2690G>A (p.Arg897Gln)
|
rs1387200155
|
|
NM_014956.5(CEP164):c.2721C>G (p.His907Gln)
|
|
|
NM_014956.5(CEP164):c.272A>G (p.His91Arg)
|
rs2039675348
|
|
NM_014956.5(CEP164):c.2731G>C (p.Glu911Gln)
|
|
|
NM_014956.5(CEP164):c.2740C>G (p.Arg914Gly)
|
rs541217768
|
|
NM_014956.5(CEP164):c.2741G>T (p.Arg914Leu)
|
rs550799764
|
|
NM_014956.5(CEP164):c.2747G>A (p.Arg916Gln)
|
|
|
NM_014956.5(CEP164):c.2747G>C (p.Arg916Pro)
|
rs748681315
|
|
NM_014956.5(CEP164):c.275A>G (p.Tyr92Cys)
|
|
|
NM_014956.5(CEP164):c.2761G>A (p.Glu921Lys)
|
|
|
NM_014956.5(CEP164):c.2769G>C (p.Lys923Asn)
|
|
|
NM_014956.5(CEP164):c.2787G>C (p.Leu929Phe)
|
|
|
NM_014956.5(CEP164):c.278G>A (p.Arg93Gln)
|
|
|
NM_014956.5(CEP164):c.2801G>A (p.Arg934Lys)
|
|
|
NM_014956.5(CEP164):c.2812G>C (p.Val938Leu)
|
rs958659489
|
|
NM_014956.5(CEP164):c.2813T>G (p.Val938Gly)
|
rs374045323
|
|
NM_014956.5(CEP164):c.2822G>C (p.Arg941Thr)
|
rs749310077
|
|
NM_014956.5(CEP164):c.2834_2844+13dup
|
rs765251449
|
|
NM_014956.5(CEP164):c.2844+5G>C
|
rs2136434803
|
|
NM_014956.5(CEP164):c.2857C>T (p.Arg953Trp)
|
rs767099855
|
|
NM_014956.5(CEP164):c.2884_2885delinsAA (p.Val962Lys)
|
|
|
NM_014956.5(CEP164):c.2885T>G (p.Val962Gly)
|
rs2045276386
|
|
NM_014956.5(CEP164):c.2889G>C (p.Gln963His)
|
|
|
NM_014956.5(CEP164):c.2889G>T (p.Gln963His)
|
rs2045277340
|
|
NM_014956.5(CEP164):c.2890_2895dup (p.Arg964_Gln965dup)
|
rs2045276879
|
|
NM_014956.5(CEP164):c.28G>C (p.Asp10His)
|
rs2135058109
|
|
NM_014956.5(CEP164):c.2913+4T>G
|
|
|
NM_014956.5(CEP164):c.2913G>A (p.Glu971=)
|
rs2136439892
|
|
NM_014956.5(CEP164):c.2924C>A (p.Ala975Asp)
|
|
|
NM_014956.5(CEP164):c.2947G>A (p.Ala983Thr)
|
rs1251181865
|
|
NM_014956.5(CEP164):c.2965C>A (p.His989Asn)
|
rs2045329063
|
|
NM_014956.5(CEP164):c.2987A>G (p.Gln996Arg)
|
|
|
NM_014956.5(CEP164):c.2988G>T (p.Gln996His)
|
rs1565593444
|
|
NM_014956.5(CEP164):c.2993G>C (p.Arg998Pro)
|
|
|
NM_014956.5(CEP164):c.3005A>T (p.Asp1002Val)
|
rs2136452126
|
|
NM_014956.5(CEP164):c.3007G>C (p.Glu1003Gln)
|
|
|
NM_014956.5(CEP164):c.3019C>G (p.Arg1007Gly)
|
rs115387935
|
|
NM_014956.5(CEP164):c.3021C>T (p.Arg1007=)
|
|
|
NM_014956.5(CEP164):c.3032T>A (p.Leu1011Gln)
|
rs138868323
|
|
NM_014956.5(CEP164):c.3050T>G (p.Leu1017Arg)
|
|
|
NM_014956.5(CEP164):c.3057G>C (p.Gln1019His)
|
|
|
NM_014956.5(CEP164):c.3069G>T (p.Gln1023His)
|
rs1281977880
|
|
NM_014956.5(CEP164):c.3070C>G (p.Gln1024Glu)
|
|
|
NM_014956.5(CEP164):c.3087C>G (p.Phe1029Leu)
|
rs2045343660
|
|
NM_014956.5(CEP164):c.3089+5C>T
|
|
|
NM_014956.5(CEP164):c.3089G>C (p.Ser1030Thr)
|
rs2045343883
|
|
NM_014956.5(CEP164):c.3103G>A (p.Glu1035Lys)
|
|
|
NM_014956.5(CEP164):c.3124C>G (p.Leu1042Val)
|
|
|
NM_014956.5(CEP164):c.314C>T (p.Thr105Ile)
|
|
|
NM_014956.5(CEP164):c.3153T>G (p.Asn1051Lys)
|
rs2045422580
|
|
NM_014956.5(CEP164):c.3163C>T (p.Pro1055Ser)
|
rs2136466815
|
|
NM_014956.5(CEP164):c.3181C>T (p.Leu1061Phe)
|
rs2136467124
|
|
NM_014956.5(CEP164):c.3184C>T (p.His1062Tyr)
|
rs2136467201
|
|
NM_014956.5(CEP164):c.3236C>G (p.Ser1079Cys)
|
rs2136482246
|
|
NM_014956.5(CEP164):c.3239C>G (p.Ser1080Cys)
|
|
|
NM_014956.5(CEP164):c.3259G>C (p.Glu1087Gln)
|
rs911561261
|
|
NM_014956.5(CEP164):c.3278+5G>A
|
rs1382315277
|
|
NM_014956.5(CEP164):c.3289C>T (p.His1097Tyr)
|
rs764825500
|
|
NM_014956.5(CEP164):c.3322G>T (p.Val1108Leu)
|
|
|
NM_014956.5(CEP164):c.3339C>T (p.Ala1113=)
|
|
|
NM_014956.5(CEP164):c.3341A>T (p.Lys1114Met)
|
|
|
NM_014956.5(CEP164):c.3353T>C (p.Val1118Ala)
|
rs1455570319
|
|
NM_014956.5(CEP164):c.3355_3356inv (p.Gln1119Trp)
|
|
|
NM_014956.5(CEP164):c.3361A>G (p.Thr1121Ala)
|
|
|
NM_014956.5(CEP164):c.3365G>C (p.Arg1122Pro)
|
rs144910893
|
|
NM_014956.5(CEP164):c.3373C>T (p.Arg1125Trp)
|
|
|
NM_014956.5(CEP164):c.3379C>G (p.Arg1127Gly)
|
|
|
NM_014956.5(CEP164):c.3380G>T (p.Arg1127Leu)
|
rs753895198
|
|
NM_014956.5(CEP164):c.3382C>G (p.Gln1128Glu)
|
rs2136502331
|
|
NM_014956.5(CEP164):c.3416G>A (p.Arg1139His)
|
rs143802594
|
|
NM_014956.5(CEP164):c.3416G>T (p.Arg1139Leu)
|
rs143802594
|
|
NM_014956.5(CEP164):c.3427G>C (p.Ala1143Pro)
|
|
|
NM_014956.5(CEP164):c.3430A>G (p.Ser1144Gly)
|
rs2136503745
|
|
NM_014956.5(CEP164):c.3463A>G (p.Ile1155Val)
|
|
|
NM_014956.5(CEP164):c.347A>G (p.Lys116Arg)
|
|
|
NM_014956.5(CEP164):c.347A>T (p.Lys116Met)
|
rs867484690
|
|
NM_014956.5(CEP164):c.3484C>T (p.Arg1162Cys)
|
rs138487235
|
|
NM_014956.5(CEP164):c.3499A>G (p.Lys1167Glu)
|
|
|
NM_014956.5(CEP164):c.3501G>C (p.Lys1167Asn)
|
rs2136505455
|
|
NM_014956.5(CEP164):c.3501G>T (p.Lys1167Asn)
|
|
|
NM_014956.5(CEP164):c.3530C>T (p.Ser1177Leu)
|
|
|
NM_014956.5(CEP164):c.3535A>G (p.Met1179Val)
|
rs772378117
|
|
NM_014956.5(CEP164):c.3545G>A (p.Gly1182Asp)
|
rs2136880769
|
|
NM_014956.5(CEP164):c.355A>G (p.Lys119Glu)
|
|
|
NM_014956.5(CEP164):c.3571G>A (p.Glu1191Lys)
|
|
|
NM_014956.5(CEP164):c.3587T>C (p.Leu1196Ser)
|
|
|
NM_014956.5(CEP164):c.3605A>T (p.Glu1202Val)
|
rs2046909808
|
|
NM_014956.5(CEP164):c.3609+2_3609+5dup
|
|
|
NM_014956.5(CEP164):c.3609+4C>T
|
|
|
NM_014956.5(CEP164):c.3609+9C>G
|
|
|
NM_014956.5(CEP164):c.3613T>G (p.Ser1205Ala)
|
|
|
NM_014956.5(CEP164):c.3638C>T (p.Ser1213Phe)
|
rs2047007327
|
|
NM_014956.5(CEP164):c.3650A>G (p.Lys1217Arg)
|
rs2047009414
|
|
NM_014956.5(CEP164):c.3652G>T (p.Ala1218Ser)
|
rs1565634414
|
|
NM_014956.5(CEP164):c.3664G>A (p.Asp1222Asn)
|
|
|
NM_014956.5(CEP164):c.368A>G (p.Asp123Gly)
|
rs2135446465
|
|
NM_014956.5(CEP164):c.3707C>G (p.Ser1236Cys)
|
rs375184395
|
|
NM_014956.5(CEP164):c.370A>G (p.Arg124Gly)
|
rs2135446492
|
|
NM_014956.5(CEP164):c.3711T>A (p.Phe1237Leu)
|
|
|
NM_014956.5(CEP164):c.3718C>T (p.Pro1240Ser)
|
rs745898523
|
|
NM_014956.5(CEP164):c.3722A>T (p.His1241Leu)
|
|
|
NM_014956.5(CEP164):c.3725G>A (p.Arg1242His)
|
rs775665636
|
|
NM_014956.5(CEP164):c.3727G>A (p.Glu1243Lys)
|
rs2047016520
|
|
NM_014956.5(CEP164):c.3745A>G (p.Arg1249Gly)
|
|
|
NM_014956.5(CEP164):c.3747G>T (p.Arg1249Ser)
|
rs1458226426
|
|
NM_014956.5(CEP164):c.3749-5_3761dup
|
rs2136932910
|
|
NM_014956.5(CEP164):c.3751G>A (p.Asp1251Asn)
|
rs1270766012
|
|
NM_014956.5(CEP164):c.3751G>T (p.Asp1251Tyr)
|
|
|
NM_014956.5(CEP164):c.3770C>T (p.Thr1257Ile)
|
|
|
NM_014956.5(CEP164):c.3772_3774del (p.Ser1258del)
|
rs752854208
|
|
NM_014956.5(CEP164):c.3787G>A (p.Gly1263Arg)
|
|
|
NM_014956.5(CEP164):c.3787G>C (p.Gly1263Arg)
|
rs748443825
|
|
NM_014956.5(CEP164):c.3809A>G (p.Gln1270Arg)
|
|
|
NM_014956.5(CEP164):c.380C>G (p.Pro127Arg)
|
rs143659874
|
|
NM_014956.5(CEP164):c.380C>T (p.Pro127Leu)
|
rs143659874
|
|
NM_014956.5(CEP164):c.3841A>T (p.Ile1281Phe)
|
rs2047109121
|
|
NM_014956.5(CEP164):c.3866C>T (p.Ser1289Leu)
|
rs758693012
|
|
NM_014956.5(CEP164):c.3872C>T (p.Pro1291Leu)
|
|
|
NM_014956.5(CEP164):c.3875C>T (p.Pro1292Leu)
|
|
|
NM_014956.5(CEP164):c.3899A>G (p.Gln1300Arg)
|
|
|
NM_014956.5(CEP164):c.3911G>A (p.Arg1304Gln)
|
|
|
NM_014956.5(CEP164):c.3928CCCACC[3] (p.1310PT[3])
|
rs1555159397
|
|
NM_014956.5(CEP164):c.3929C>T (p.Pro1310Leu)
|
rs145100782
|
|
NM_014956.5(CEP164):c.393+5G>A
|
rs1230691362
|
|
NM_014956.5(CEP164):c.4010dup (p.Asp1337fs)
|
rs2136940605
|
|
NM_014956.5(CEP164):c.4019A>C (p.Gln1340Pro)
|
rs2136940823
|
|
NM_014956.5(CEP164):c.4022G>A (p.Gly1341Glu)
|
|
|
NM_014956.5(CEP164):c.4024C>T (p.Pro1342Ser)
|
rs769315243
|
|
NM_014956.5(CEP164):c.4037C>G (p.Ser1346Cys)
|
rs2136941463
|
|
NM_014956.5(CEP164):c.4037C>T (p.Ser1346Phe)
|
|
|
NM_014956.5(CEP164):c.4052C>T (p.Thr1351Met)
|
|
|
NM_014956.5(CEP164):c.4063T>C (p.Phe1355Leu)
|
|
|
NM_014956.5(CEP164):c.4082G>A (p.Arg1361His)
|
|
|
NM_014956.5(CEP164):c.4082G>C (p.Arg1361Pro)
|
rs148987415
|
|
NM_014956.5(CEP164):c.4084A>G (p.Lys1362Glu)
|
rs377401620
|
|
NM_014956.5(CEP164):c.4099G>A (p.Gly1367Ser)
|
|
|
NM_014956.5(CEP164):c.4100G>T (p.Gly1367Val)
|
|
|
NM_014956.5(CEP164):c.4119C>G (p.Asn1373Lys)
|
rs73016324
|
|
NM_014956.5(CEP164):c.4129C>G (p.Pro1377Ala)
|
|
|
NM_014956.5(CEP164):c.412G>A (p.Ala138Thr)
|
|
|
NM_014956.5(CEP164):c.4163+3_4163+6del
|
rs2047273023
|
|
NM_014956.5(CEP164):c.4163+6C>T
|
rs576293282
|
|
NM_014956.5(CEP164):c.4172T>G (p.Leu1391Arg)
|
rs1274336690
|
|
NM_014956.5(CEP164):c.4175G>C (p.Arg1392Pro)
|
rs772989312
|
|
NM_014956.5(CEP164):c.4209G>C (p.Glu1403Asp)
|
|
|
NM_014956.5(CEP164):c.4237_4238delinsTA (p.Ile1413Tyr)
|
|
|
NM_014956.5(CEP164):c.4249C>T (p.Arg1417Trp)
|
rs745904143
|
|
NM_014956.5(CEP164):c.4250G>A (p.Arg1417Gln)
|
rs560527787
|
|
NM_014956.5(CEP164):c.4250G>C (p.Arg1417Pro)
|
rs560527787
|
|
NM_014956.5(CEP164):c.4252A>G (p.Arg1418Gly)
|
rs2137001261
|
|
NM_014956.5(CEP164):c.4255_4262dup (p.Glu1421fs)
|
rs2047398079
|
|
NM_014956.5(CEP164):c.4257G>T (p.Trp1419Cys)
|
|
|
NM_014956.5(CEP164):c.4264_4265insTGGTAAC (p.Arg1422fs)
|
|
|
NM_014956.5(CEP164):c.4287-6G>A
|
rs2137006602
|
|
NM_014956.5(CEP164):c.4288C>T (p.Pro1430Ser)
|
|
|
NM_014956.5(CEP164):c.4293_4294del (p.Phe1432fs)
|
rs756288878
|
|
NM_014956.5(CEP164):c.4303A>G (p.Thr1435Ala)
|
|
|
NM_014956.5(CEP164):c.4321A>G (p.Thr1441Ala)
|
|
|
NM_014956.5(CEP164):c.4339C>G (p.Leu1447Val)
|
|
|
NM_014956.5(CEP164):c.4373A>C (p.Tyr1458Ser)
|
|
|
NM_014956.5(CEP164):c.4376G>A (p.Arg1459His)
|
rs2137008848
|
|
NM_014956.5(CEP164):c.440T>C (p.Leu147Pro)
|
|
|
NM_014956.5(CEP164):c.485G>A (p.Arg162His)
|
rs139763142
|
|
NM_014956.5(CEP164):c.497G>A (p.Ser166Asn)
|
|
|
NM_014956.5(CEP164):c.506T>C (p.Leu169Pro)
|
|
|
NM_014956.5(CEP164):c.53A>C (p.Tyr18Ser)
|
rs770996340
|
|
NM_014956.5(CEP164):c.547A>C (p.Met183Leu)
|
rs749917447
|
|
NM_014956.5(CEP164):c.547A>G (p.Met183Val)
|
rs749917447
|
|
NM_014956.5(CEP164):c.548T>C (p.Met183Thr)
|
rs144206271
|
|
NM_014956.5(CEP164):c.553-12_688-79del
|
rs2135702447
|
|
NM_014956.5(CEP164):c.557C>T (p.Ser186Leu)
|
rs1354068792
|
|
NM_014956.5(CEP164):c.581A>G (p.Tyr194Cys)
|
|
|
NM_014956.5(CEP164):c.583A>T (p.Thr195Ser)
|
rs2135703292
|
|
NM_014956.5(CEP164):c.584C>G (p.Thr195Arg)
|
|
|
NM_014956.5(CEP164):c.589G>A (p.Gly197Ser)
|
rs2135703365
|
|
NM_014956.5(CEP164):c.590G>A (p.Gly197Asp)
|
|
|
NM_014956.5(CEP164):c.602C>T (p.Ser201Phe)
|
|
|
NM_014956.5(CEP164):c.614A>G (p.Asp205Gly)
|
rs753078424
|
|
NM_014956.5(CEP164):c.623C>T (p.Ala208Val)
|
|
|
NM_014956.5(CEP164):c.644_646del (p.Gly215del)
|
rs759774330
|
|
NM_014956.5(CEP164):c.660GGA[1] (p.Glu221del)
|
rs2135704436
|
|
NM_014956.5(CEP164):c.679G>A (p.Asp227Asn)
|
|
|
NM_014956.5(CEP164):c.67A>G (p.Ile23Val)
|
rs2135058910
|
|
NM_014956.5(CEP164):c.687+5T>A
|
|
|
NM_014956.5(CEP164):c.687+7A>G
|
|
|
NM_014956.5(CEP164):c.687G>C (p.Gln229His)
|
rs2041112988
|
|
NM_014956.5(CEP164):c.706G>A (p.Glu236Lys)
|
rs749146317
|
|
NM_014956.5(CEP164):c.717G>C (p.Arg239Ser)
|
rs1335434297
|
|
NM_014956.5(CEP164):c.720C>G (p.Asn240Lys)
|
|
|
NM_014956.5(CEP164):c.734T>C (p.Ile245Thr)
|
|
|
NM_014956.5(CEP164):c.745G>T (p.Gly249Trp)
|
|
|
NM_014956.5(CEP164):c.749G>A (p.Gly250Asp)
|
rs368668415
|
|
NM_014956.5(CEP164):c.765+3A>G
|
|
|
NM_014956.5(CEP164):c.765+4A>T
|
|
|
NM_014956.5(CEP164):c.765+6A>G
|
rs2041252535
|
|
NM_014956.5(CEP164):c.76G>A (p.Glu26Lys)
|
rs1565416876
|
|
NM_014956.5(CEP164):c.770C>G (p.Ser257Cys)
|
rs2135912954
|
|
NM_014956.5(CEP164):c.796AAG[1] (p.Lys267del)
|
rs764638875
|
|
NM_014956.5(CEP164):c.79C>A (p.Gln27Lys)
|
rs565845914
|
|
NM_014956.5(CEP164):c.79C>G (p.Gln27Glu)
|
|
|
NM_014956.5(CEP164):c.803A>G (p.Asp268Gly)
|
|
|
NM_014956.5(CEP164):c.815A>G (p.Asp272Gly)
|
rs1411607770
|
|
NM_014956.5(CEP164):c.829G>T (p.Gly277Cys)
|
rs772164945
|
|
NM_014956.5(CEP164):c.833C>T (p.Pro278Leu)
|
rs376214075
|
|
NM_014956.5(CEP164):c.884G>T (p.Ser295Ile)
|
rs2135914534
|
|
NM_014956.5(CEP164):c.925G>A (p.Gly309Ser)
|
|
|
NM_014956.5(CEP164):c.931C>G (p.Pro311Ala)
|
|
|
NM_014956.5(CEP164):c.947A>G (p.Asn316Ser)
|
|
|
NM_014956.5(CEP164):c.961C>T (p.Pro321Ser)
|
rs566379982
|
|
NM_014956.5(CEP164):c.966G>C (p.Lys322Asn)
|
rs2042170733
|
|
NM_014956.5(CEP164):c.985A>T (p.Thr329Ser)
|
|
|
NM_014956.5(CEP164):c.986C>T (p.Thr329Ile)
|
|
|
NM_014956.5(CEP164):c.990_1001dup (p.Pro334_Thr335insLysAlaAspPro)
|
|
|
NM_014956.5(CEP164):c.997G>A (p.Asp333Asn)
|
|
|
NM_015102.5(NPHP4):c.*26C>T
|
rs533259623
|
|
NM_015102.5(NPHP4):c.*87C>G
|
rs1640812510
|
|
NM_015102.5(NPHP4):c.136-12G>C
|
rs371432148
|
|
NM_015102.5(NPHP4):c.1427C>A (p.Pro476His)
|
rs534853218
|
|
NM_015102.5(NPHP4):c.1463G>C (p.Arg488Pro)
|
rs375429200
|
|
NM_015102.5(NPHP4):c.1523C>T (p.Ala508Val)
|
rs766910538
|
|
NM_015102.5(NPHP4):c.1527C>T (p.Ala509=)
|
rs773573886
|
|
NM_015102.5(NPHP4):c.1534C>T (p.Arg512Trp)
|
rs769747675
|
|
NM_015102.5(NPHP4):c.1740TGT[1] (p.Val582del)
|
rs1282891020
|
|
NM_015102.5(NPHP4):c.1838A>G (p.Asn613Ser)
|
rs1557699489
|
|
NM_015102.5(NPHP4):c.1955+7C>A
|
rs886046466
|
|
NM_015102.5(NPHP4):c.1987C>A (p.Pro663Thr)
|
rs886046465
|
|
NM_015102.5(NPHP4):c.2021G>A (p.Arg674His)
|
rs375416303
|
|
NM_015102.5(NPHP4):c.2021G>T (p.Arg674Leu)
|
rs375416303
|
|
NM_015102.5(NPHP4):c.2032G>T (p.Ala678Ser)
|
rs368101076
|
|
NM_015102.5(NPHP4):c.2241_2242delinsAA (p.Gln748Lys)
|
rs2100920979
|
|
NM_015102.5(NPHP4):c.2358_2360del (p.Val787del)
|
rs751681273
|
|
NM_015102.5(NPHP4):c.2374G>A (p.Glu792Lys)
|
rs764028061
|
|
NM_015102.5(NPHP4):c.2426A>G (p.Lys809Arg)
|
rs747951355
|
|
NM_015102.5(NPHP4):c.2434G>A (p.Gly812Ser)
|
rs755644390
|
|
NM_015102.5(NPHP4):c.2651A>G (p.Asp884Gly)
|
rs1642710907
|
|
NM_015102.5(NPHP4):c.2673A>G (p.Leu891=)
|
rs974196549
|
|
NM_015102.5(NPHP4):c.2812G>C (p.Val938Leu)
|
rs184961418
|
|
NM_015102.5(NPHP4):c.3045-4C>A
|
rs886046462
|
|
NM_015102.5(NPHP4):c.3078C>T (p.Phe1026=)
|
rs886046461
|
|
NM_015102.5(NPHP4):c.3082G>C (p.Gly1028Arg)
|
rs1557616048
|
|
NM_015102.5(NPHP4):c.3203T>G (p.Phe1068Cys)
|
rs764323785
|
|
NM_015102.5(NPHP4):c.3252C>G (p.Asn1084Lys)
|
rs778087914
|
|
NM_015102.5(NPHP4):c.3498G>T (p.Glu1166Asp)
|
rs1387983031
|
|
NM_015102.5(NPHP4):c.3762G>T (p.Gly1254=)
|
rs762953303
|
|
NM_015102.5(NPHP4):c.3964T>G (p.Cys1322Gly)
|
rs748449029
|
|
NM_015102.5(NPHP4):c.4117C>T (p.Arg1373Trp)
|
rs1417370808
|
|
NM_015102.5(NPHP4):c.673+5G>T
|
rs1346224220
|
|
NM_015102.5(NPHP4):c.713C>A (p.Thr238Lys)
|
rs752644932
|
|
NM_015102.5(NPHP4):c.820C>G (p.Pro274Ala)
|
rs886046467
|
|
NM_015102.5(NPHP4):c.96G>T (p.Gln32His)
|
rs776102193
|
|
NM_015650.4(TRAF3IP1):c.152G>A (p.Gly51Asp)
|
rs1574887966
|
|
NM_015650.4(TRAF3IP1):c.812G>A (p.Arg271Gln)
|
|
|
NM_025114.4(CEP290):c.-118C>G
|
rs886049887
|
|
NM_025114.4(CEP290):c.-208C>T
|
rs551070690
|
|
NM_025114.4(CEP290):c.1142A>G (p.Asn381Ser)
|
rs1295338042
|
|
NM_025114.4(CEP290):c.151C>T (p.Leu51Phe)
|
rs1264332374
|
|
NM_025114.4(CEP290):c.1623+10G>A
|
rs377529198
|
|
NM_025114.4(CEP290):c.1623+10G>T
|
rs377529198
|
|
NM_025114.4(CEP290):c.1624-5T>G
|
rs142742071
|
|
NM_025114.4(CEP290):c.1747A>G (p.Ile583Val)
|
rs1459958084
|
|
NM_025114.4(CEP290):c.1921G>C (p.Val641Leu)
|
rs886049883
|
|
NM_025114.4(CEP290):c.2090C>G (p.Ala697Gly)
|
rs200454865
|
|
NM_025114.4(CEP290):c.2191C>A (p.Gln731Lys)
|
rs767250881
|
|
NM_025114.4(CEP290):c.2217+3G>A
|
rs765291878
|
|
NM_025114.4(CEP290):c.2233A>G (p.Lys745Glu)
|
rs1193394531
|
|
NM_025114.4(CEP290):c.2245C>T (p.Leu749Phe)
|
rs2038674474
|
|
NM_025114.4(CEP290):c.2279T>C (p.Phe760Ser)
|
rs1488946278
|
|
NM_025114.4(CEP290):c.2317A>T (p.Ser773Cys)
|
rs748976722
|
|
NM_025114.4(CEP290):c.2440G>T (p.Val814Leu)
|
rs955251811
|
|
NM_025114.4(CEP290):c.2483+5A>G
|
rs2137661741
|
|
NM_025114.4(CEP290):c.2484-18GTTTT[4]
|
rs745522483
|
|
NM_025114.4(CEP290):c.2864A>G (p.Asn955Ser)
|
rs1443848622
|
|
NM_025114.4(CEP290):c.2869G>A (p.Val957Ile)
|
rs2038007630
|
|
NM_025114.4(CEP290):c.2927A>G (p.Tyr976Cys)
|
rs1039332206
|
|
NM_025114.4(CEP290):c.3020T>C (p.Val1007Ala)
|
rs898733071
|
|
NM_025114.4(CEP290):c.3152A>T (p.Asp1051Val)
|
rs2037238288
|
|
NM_025114.4(CEP290):c.3162_3167del (p.Ile1055_Ser1056del)
|
rs760503950
|
|
NM_025114.4(CEP290):c.3250C>G (p.Arg1084Gly)
|
rs372918770
|
|
NM_025114.4(CEP290):c.3250C>T (p.Arg1084Trp)
|
rs372918770
|
|
NM_025114.4(CEP290):c.3251G>A (p.Arg1084Gln)
|
|
|
NM_025114.4(CEP290):c.3309+2_3309+3dup
|
rs886049881
|
|
NM_025114.4(CEP290):c.3514CAA[2] (p.Gln1174del)
|
rs749010290
|
|
NM_025114.4(CEP290):c.3518A>C (p.Gln1173Pro)
|
rs2137303851
|
|
NM_025114.4(CEP290):c.3574-9T>A
|
rs202038547
|
|
NM_025114.4(CEP290):c.3581C>T (p.Ser1194Phe)
|
rs2036852568
|
|
NM_025114.4(CEP290):c.3605A>G (p.Lys1202Arg)
|
rs375065584
|
|
NM_025114.4(CEP290):c.3605A>T (p.Lys1202Met)
|
rs375065584
|
|
NM_025114.4(CEP290):c.362A>C (p.Glu121Ala)
|
rs2040372439
|
|
NM_025114.4(CEP290):c.3762G>C (p.Leu1254Phe)
|
rs2036834615
|
|
NM_025114.4(CEP290):c.3829_3830delinsCT (p.Ala1277Leu)
|
rs1565845877
|
|
NM_025114.4(CEP290):c.3949A>G (p.Lys1317Glu)
|
rs2137270029
|
|
NM_025114.4(CEP290):c.3950A>C (p.Lys1317Thr)
|
rs778137534
|
|
NM_025114.4(CEP290):c.4087C>T (p.Arg1363Trp)
|
rs181121175
|
|
NM_025114.4(CEP290):c.4298A>G (p.Gln1433Arg)
|
rs1157241942
|
|
NM_025114.4(CEP290):c.442-11del
|
rs199511358
|
|
NM_025114.4(CEP290):c.442-22_442-21dup
|
rs199511358
|
|
NM_025114.4(CEP290):c.442-22dup
|
rs199511358
|
|
NM_025114.4(CEP290):c.4555A>G (p.Ile1519Val)
|
rs200817579
|
|
NM_025114.4(CEP290):c.4860_4866delinsA (p.Phe1620_Arg1622delinsLeu)
|
|
|
NM_025114.4(CEP290):c.5013G>C (p.Gln1671His)
|
rs1173154577
|
|
NM_025114.4(CEP290):c.5023A>G (p.Asn1675Asp)
|
rs886049880
|
|
NM_025114.4(CEP290):c.5099A>G (p.Glu1700Gly)
|
rs886049879
|
|
NM_025114.4(CEP290):c.5145T>G (p.Asn1715Lys)
|
rs568619750
|
|
NM_025114.4(CEP290):c.5226+5_5226+8del
|
rs1353301232
|
|
NM_025114.4(CEP290):c.5227-14del
|
rs747878752
|
|
NM_025114.4(CEP290):c.5228C>T (p.Ala1743Val)
|
rs951910051
|
|
NM_025114.4(CEP290):c.54G>A (p.Leu18=)
|
rs886049885
|
|
NM_025114.4(CEP290):c.54G>C (p.Leu18=)
|
rs886049885
|
|
NM_025114.4(CEP290):c.5587-8T>C
|
rs886049878
|
|
NM_025114.4(CEP290):c.5607T>C (p.Asn1869=)
|
rs777353443
|
|
NM_025114.4(CEP290):c.5777G>A (p.Arg1926Gln)
|
rs778030031
|
|
NM_025114.4(CEP290):c.5805A>T (p.Glu1935Asp)
|
rs2136964084
|
|
NM_025114.4(CEP290):c.5842G>T (p.Asp1948Tyr)
|
rs886049877
|
|
NM_025114.4(CEP290):c.6218T>C (p.Ile2073Thr)
|
rs2034695558
|
|
NM_025114.4(CEP290):c.6277G>A (p.Val2093Ile)
|
rs2034578914
|
|
NM_025114.4(CEP290):c.6452T>G (p.Leu2151Trp)
|
rs191613017
|
|
NM_025114.4(CEP290):c.64GAA[1] (p.Glu23del)
|
rs780211907
|
|
NM_025114.4(CEP290):c.6566G>T (p.Ser2189Ile)
|
rs2034338160
|
|
NM_025114.4(CEP290):c.6570G>A (p.Met2190Ile)
|
rs1480802620
|
|
NM_025114.4(CEP290):c.6634G>A (p.Glu2212Lys)
|
rs2034330893
|
|
NM_025114.4(CEP290):c.6694A>G (p.Ile2232Val)
|
rs2034240720
|
|
NM_025114.4(CEP290):c.7156A>G (p.Lys2386Glu)
|
|
|
NM_025114.4(CEP290):c.7198C>G (p.Gln2400Glu)
|
rs1478582091
|
|
NM_025114.4(CEP290):c.7209+11_7209+14del
|
rs750259100
|
|
NM_025114.4(CEP290):c.7209+7T>G
|
rs745813087
|
|
NM_025114.4(CEP290):c.7305GAA[2] (p.Lys2437del)
|
rs768777116
|
|
NM_025114.4(CEP290):c.790G>T (p.Val264Leu)
|
rs1242440672
|
|
NM_025114.4(CEP290):c.916G>A (p.Val306Ile)
|
rs558949569
|
|
NM_025114.4(CEP290):c.942+6T>G
|
rs886049884
|
|
NM_025114.4(CEP290):c.963T>A (p.Asp321Glu)
|
rs774072453
|
|
NM_025114.4(CEP290):c.[943-4C>T;943-8A>T]
|
|
|
NM_025132.4(WDR19):c.1010C>T (p.Ser337Phe)
|
|
|
NM_025132.4(WDR19):c.1012A>T (p.Thr338Ser)
|
rs1729016178
|
|
NM_025132.4(WDR19):c.1070G>A (p.Cys357Tyr)
|
|
|
NM_025132.4(WDR19):c.1099C>G (p.Leu367Val)
|
rs1064797308
|
|
NM_025132.4(WDR19):c.1112C>T (p.Thr371Ile)
|
rs2109326721
|
|
NM_025132.4(WDR19):c.1142C>G (p.Pro381Arg)
|
|
|
NM_025132.4(WDR19):c.1150G>A (p.Val384Ile)
|
rs2109327092
|
|
NM_025132.4(WDR19):c.11T>C (p.Ile4Thr)
|
rs2109740507
|
|
NM_025132.4(WDR19):c.1234G>A (p.Val412Ile)
|
rs1729054259
|
|
NM_025132.4(WDR19):c.1241G>A (p.Gly414Glu)
|
|
|
NM_025132.4(WDR19):c.1262T>G (p.Leu421Trp)
|
|
|
NM_025132.4(WDR19):c.1323T>A (p.Ala441=)
|
rs2109329846
|
|
NM_025132.4(WDR19):c.1327C>A (p.Leu443Ile)
|
rs1368404511
|
|
NM_025132.4(WDR19):c.1328T>C (p.Leu443Pro)
|
rs1729154313
|
|
NM_025132.4(WDR19):c.1342G>A (p.Val448Ile)
|
rs760418892
|
|
NM_025132.4(WDR19):c.1342G>C (p.Val448Leu)
|
rs760418892
|
|
NM_025132.4(WDR19):c.1352A>G (p.His451Arg)
|
|
|
NM_025132.4(WDR19):c.1356+4A>G
|
|
|
NM_025132.4(WDR19):c.1373T>C (p.Leu458Ser)
|
rs1729252548
|
|
NM_025132.4(WDR19):c.1384GAA[1] (p.Glu463del)
|
rs763535788
|
|
NM_025132.4(WDR19):c.1385A>T (p.Glu462Val)
|
rs2109331852
|
|
NM_025132.4(WDR19):c.1427G>C (p.Cys476Ser)
|
|
|
NM_025132.4(WDR19):c.1462C>T (p.Leu488Phe)
|
rs1560503998
|
|
NM_025132.4(WDR19):c.1479T>C (p.Asp493=)
|
rs1207013785
|
|
NM_025132.4(WDR19):c.1493A>G (p.Gln498Arg)
|
rs2109349675
|
|
NM_025132.4(WDR19):c.1537C>A (p.His513Asn)
|
rs2109349795
|
|
NM_025132.4(WDR19):c.1541C>A (p.Pro514His)
|
|
|
NM_025132.4(WDR19):c.1576G>A (p.Gly526Arg)
|
rs1335665760
|
|
NM_025132.4(WDR19):c.1658A>G (p.Asp553Gly)
|
|
|
NM_025132.4(WDR19):c.1673T>C (p.Ile558Thr)
|
rs1730480639
|
|
NM_025132.4(WDR19):c.1681G>A (p.Val561Ile)
|
|
|
NM_025132.4(WDR19):c.1711G>A (p.Gly571Ser)
|
rs2109357664
|
|
NM_025132.4(WDR19):c.1730A>G (p.Asp577Gly)
|
|
|
NM_025132.4(WDR19):c.1732G>A (p.Asp578Asn)
|
|
|
NM_025132.4(WDR19):c.1762A>G (p.Lys588Glu)
|
rs1469699848
|
|
NM_025132.4(WDR19):c.1772T>C (p.Ile591Thr)
|
|
|
NM_025132.4(WDR19):c.1775A>T (p.Gln592Leu)
|
rs190192706
|
|
NM_025132.4(WDR19):c.1778G>A (p.Gly593Glu)
|
|
|
NM_025132.4(WDR19):c.1810G>T (p.Val604Phe)
|
rs1245108212
|
|
NM_025132.4(WDR19):c.1816T>C (p.Phe606Leu)
|
rs2109358423
|
|
NM_025132.4(WDR19):c.1856C>A (p.Thr619Asn)
|
|
|
NM_025132.4(WDR19):c.186G>C (p.Trp62Cys)
|
rs2109250538
|
|
NM_025132.4(WDR19):c.1919A>C (p.Asn640Thr)
|
rs2109358802
|
|
NM_025132.4(WDR19):c.1919A>T (p.Asn640Ile)
|
rs2109358802
|
|
NM_025132.4(WDR19):c.1944A>T (p.Glu648Asp)
|
rs2109358945
|
|
NM_025132.4(WDR19):c.1951C>G (p.Pro651Ala)
|
rs2109358967
|
|
NM_025132.4(WDR19):c.1954A>G (p.Met652Val)
|
|
|
NM_025132.4(WDR19):c.197G>A (p.Gly66Glu)
|
rs780621466
|
|
NM_025132.4(WDR19):c.1994C>T (p.Ala665Val)
|
|
|
NM_025132.4(WDR19):c.2003T>C (p.Met668Thr)
|
rs1577943470
|
|
NM_025132.4(WDR19):c.2023G>A (p.Glu675Lys)
|
|
|
NM_025132.4(WDR19):c.2030C>T (p.Ala677Val)
|
rs2109366909
|
|
NM_025132.4(WDR19):c.2056C>G (p.Leu686Val)
|
|
|
NM_025132.4(WDR19):c.2057T>C (p.Leu686Pro)
|
|
|
NM_025132.4(WDR19):c.2059C>T (p.His687Tyr)
|
rs1577943727
|
|
NM_025132.4(WDR19):c.2074G>C (p.Glu692Gln)
|
rs1730907908
|
|
NM_025132.4(WDR19):c.2083A>G (p.Ile695Val)
|
|
|
NM_025132.4(WDR19):c.2114G>A (p.Gly705Asp)
|
|
|
NM_025132.4(WDR19):c.2143-12T>G
|
|
|
NM_025132.4(WDR19):c.2146A>G (p.Ile716Val)
|
|
|
NM_025132.4(WDR19):c.2167G>C (p.Ala723Pro)
|
rs2109368181
|
|
NM_025132.4(WDR19):c.2183T>A (p.Met728Lys)
|
|
|
NM_025132.4(WDR19):c.2185T>C (p.Phe729Leu)
|
|
|
NM_025132.4(WDR19):c.2201A>G (p.Asn734Ser)
|
|
|
NM_025132.4(WDR19):c.2203C>G (p.Leu735Val)
|
|
|
NM_025132.4(WDR19):c.2213A>T (p.Asp738Val)
|
rs1307951215
|
|
NM_025132.4(WDR19):c.2218T>C (p.Tyr740His)
|
rs886059399
|
|
NM_025132.4(WDR19):c.2236C>T (p.Pro746Ser)
|
rs372232320
|
|
NM_025132.4(WDR19):c.2237C>G (p.Pro746Arg)
|
rs2109368525
|
|
NM_025132.4(WDR19):c.223A>C (p.Lys75Gln)
|
|
|
NM_025132.4(WDR19):c.2248C>G (p.Leu750Val)
|
|
|
NM_025132.4(WDR19):c.2285C>T (p.Ala762Val)
|
|
|
NM_025132.4(WDR19):c.2302C>A (p.His768Asn)
|
rs2109377406
|
|
NM_025132.4(WDR19):c.2305T>G (p.Leu769Val)
|
|
|
NM_025132.4(WDR19):c.2312C>T (p.Pro771Leu)
|
rs1249345016
|
|
NM_025132.4(WDR19):c.2320A>T (p.Ile774Leu)
|
rs762043395
|
|
NM_025132.4(WDR19):c.2324C>G (p.Pro775Arg)
|
rs1731220593
|
|
NM_025132.4(WDR19):c.233G>A (p.Cys78Tyr)
|
rs200354828
|
|
NM_025132.4(WDR19):c.2377A>G (p.Asn793Asp)
|
rs780435361
|
|
NM_025132.4(WDR19):c.2381C>G (p.Ala794Gly)
|
|
|
NM_025132.4(WDR19):c.2386G>T (p.Ala796Ser)
|
|
|
NM_025132.4(WDR19):c.2404A>G (p.Ile802Val)
|
rs750584650
|
|
NM_025132.4(WDR19):c.2411G>A (p.Gly804Asp)
|
|
|
NM_025132.4(WDR19):c.2413G>A (p.Asp805Asn)
|
|
|
NM_025132.4(WDR19):c.2414A>T (p.Asp805Val)
|
|
|
NM_025132.4(WDR19):c.2421+5C>A
|
rs563302411
|
|
NM_025132.4(WDR19):c.2422G>C (p.Glu808Gln)
|
|
|
NM_025132.4(WDR19):c.2428G>T (p.Asp810Tyr)
|
rs1168307194
|
|
NM_025132.4(WDR19):c.2429A>G (p.Asp810Gly)
|
rs886059400
|
|
NM_025132.4(WDR19):c.2435C>G (p.Ala812Gly)
|
|
|
NM_025132.4(WDR19):c.2472G>A (p.Met824Ile)
|
rs1175997746
|
|
NM_025132.4(WDR19):c.2479A>G (p.Ile827Val)
|
rs2109405829
|
|
NM_025132.4(WDR19):c.2480T>G (p.Ile827Arg)
|
|
|
NM_025132.4(WDR19):c.2483G>A (p.Arg828His)
|
|
|
NM_025132.4(WDR19):c.2483G>C (p.Arg828Pro)
|
|
|
NM_025132.4(WDR19):c.2485C>G (p.Arg829Gly)
|
|
|
NM_025132.4(WDR19):c.2486G>A (p.Arg829Gln)
|
|
|
NM_025132.4(WDR19):c.2503C>G (p.Leu835Val)
|
|
|
NM_025132.4(WDR19):c.2551G>A (p.Glu851Lys)
|
|
|
NM_025132.4(WDR19):c.2562+19_2562+28del
|
|
|
NM_025132.4(WDR19):c.2562+5T>C
|
|
|
NM_025132.4(WDR19):c.2563-3T>C
|
|
|
NM_025132.4(WDR19):c.2563-6T>C
|
rs1213227553
|
|
NM_025132.4(WDR19):c.2591A>G (p.Glu864Gly)
|
|
|
NM_025132.4(WDR19):c.2597G>A (p.Gly866Asp)
|
rs2109406612
|
|
NM_025132.4(WDR19):c.2629A>C (p.Ile877Leu)
|
rs2109406828
|
|
NM_025132.4(WDR19):c.2633G>A (p.Arg878His)
|
|
|
NM_025132.4(WDR19):c.2635T>C (p.Ser879Pro)
|
rs2109406888
|
|
NM_025132.4(WDR19):c.2646-16G>A
|
|
|
NM_025132.4(WDR19):c.2646-9C>T
|
|
|
NM_025132.4(WDR19):c.2648C>T (p.Ala883Val)
|
rs1328854619
|
|
NM_025132.4(WDR19):c.2681C>T (p.Ser894Phe)
|
rs2109410308
|
|
NM_025132.4(WDR19):c.2683C>G (p.Pro895Ala)
|
rs1732419230
|
|
NM_025132.4(WDR19):c.2683_2685del (p.Pro895del)
|
|
|
NM_025132.4(WDR19):c.2684C>A (p.Pro895His)
|
rs774529884
|
|
NM_025132.4(WDR19):c.2691C>G (p.Ile897Met)
|
|
|
NM_025132.4(WDR19):c.270C>T (p.Ser90=)
|
rs1725957452
|
|
NM_025132.4(WDR19):c.2743G>C (p.Val915Leu)
|
|
|
NM_025132.4(WDR19):c.2749G>A (p.Ala917Thr)
|
|
|
NM_025132.4(WDR19):c.2777G>T (p.Ser926Ile)
|
rs751386429
|
|
NM_025132.4(WDR19):c.2782A>T (p.Ile928Phe)
|
rs780963454
|
|
NM_025132.4(WDR19):c.2786G>C (p.Arg929Pro)
|
rs201685269
|
|
NM_025132.4(WDR19):c.2816A>C (p.Glu939Ala)
|
|
|
NM_025132.4(WDR19):c.2828A>C (p.Asn943Thr)
|
rs778487491
|
|
NM_025132.4(WDR19):c.2828A>G (p.Asn943Ser)
|
rs778487491
|
|
NM_025132.4(WDR19):c.2833G>A (p.Val945Ile)
|
|
|
NM_025132.4(WDR19):c.2869G>A (p.Val957Ile)
|
|
|
NM_025132.4(WDR19):c.2880T>G (p.Phe960Leu)
|
rs1171033092
|
|
NM_025132.4(WDR19):c.2891T>C (p.Leu964Pro)
|
rs1733504639
|
|
NM_025132.4(WDR19):c.2897A>G (p.Asp966Gly)
|
|
|
NM_025132.4(WDR19):c.290G>A (p.Arg97Lys)
|
|
|
NM_025132.4(WDR19):c.292G>T (p.Asp98Tyr)
|
rs1317389016
|
|
NM_025132.4(WDR19):c.2934A>C (p.Lys978Asn)
|
|
|
NM_025132.4(WDR19):c.2941A>C (p.Asn981His)
|
rs1486655648
|
|
NM_025132.4(WDR19):c.2977A>G (p.Met993Val)
|
rs1733514837
|
|
NM_025132.4(WDR19):c.2978T>C (p.Met993Thr)
|
rs750227475
|
|
NM_025132.4(WDR19):c.2987A>G (p.Tyr996Cys)
|
|
|
NM_025132.4(WDR19):c.2990C>A (p.Ala997Glu)
|
rs1381022232
|
|
NM_025132.4(WDR19):c.3000T>C (p.Ile1000=)
|
rs1733517192
|
|
NM_025132.4(WDR19):c.3002G>A (p.Gly1001Asp)
|
|
|
NM_025132.4(WDR19):c.3045A>T (p.Leu1015Phe)
|
|
|
NM_025132.4(WDR19):c.3066A>G (p.Arg1022=)
|
|
|
NM_025132.4(WDR19):c.3068A>G (p.Tyr1023Cys)
|
rs759424617
|
|
NM_025132.4(WDR19):c.3105A>G (p.Gln1035=)
|
|
|
NM_025132.4(WDR19):c.3110C>T (p.Ser1037Leu)
|
rs1224983700
|
|
NM_025132.4(WDR19):c.3114+4A>G
|
|
|
NM_025132.4(WDR19):c.3129C>G (p.Phe1043Leu)
|
|
|
NM_025132.4(WDR19):c.3140C>A (p.Pro1047Gln)
|
|
|
NM_025132.4(WDR19):c.3151G>T (p.Asp1051Tyr)
|
rs1387754769
|
|
NM_025132.4(WDR19):c.3156T>G (p.Asn1052Lys)
|
rs2109452251
|
|
NM_025132.4(WDR19):c.3158T>C (p.Val1053Ala)
|
|
|
NM_025132.4(WDR19):c.3160G>T (p.Ala1054Ser)
|
rs756862143
|
|
NM_025132.4(WDR19):c.3183+3A>G
|
|
|
NM_025132.4(WDR19):c.3225_3230del (p.Asp1076_His1077del)
|
|
|
NM_025132.4(WDR19):c.3229C>G (p.His1077Asp)
|
|
|
NM_025132.4(WDR19):c.3230A>G (p.His1077Arg)
|
|
|
NM_025132.4(WDR19):c.3232C>T (p.Leu1078Phe)
|
|
|
NM_025132.4(WDR19):c.3236T>C (p.Leu1079Pro)
|
rs2109483428
|
|
NM_025132.4(WDR19):c.3251G>T (p.Gly1084Val)
|
rs1394317306
|
|
NM_025132.4(WDR19):c.3262-8T>C
|
|
|
NM_025132.4(WDR19):c.3289A>C (p.Met1097Leu)
|
|
|
NM_025132.4(WDR19):c.3289A>T (p.Met1097Leu)
|
|
|
NM_025132.4(WDR19):c.328A>G (p.Ser110Gly)
|
rs2109264662
|
|
NM_025132.4(WDR19):c.3311A>T (p.Glu1104Val)
|
rs1734985961
|
|
NM_025132.4(WDR19):c.332T>G (p.Phe111Cys)
|
|
|
NM_025132.4(WDR19):c.3337G>T (p.Ala1113Ser)
|
|
|
NM_025132.4(WDR19):c.333C>A (p.Phe111Leu)
|
rs755327576
|
|
NM_025132.4(WDR19):c.3349C>A (p.Gln1117Lys)
|
|
|
NM_025132.4(WDR19):c.3355G>A (p.Ala1119Thr)
|
rs915717367
|
|
NM_025132.4(WDR19):c.3358+12A>G
|
rs2109490722
|
|
NM_025132.4(WDR19):c.3359-5T>A
|
|
|
NM_025132.4(WDR19):c.3373G>A (p.Ala1125Thr)
|
|
|
NM_025132.4(WDR19):c.3374C>T (p.Ala1125Val)
|
rs1735186262
|
|
NM_025132.4(WDR19):c.3391A>G (p.Ser1131Gly)
|
rs2109496811
|
|
NM_025132.4(WDR19):c.3395T>G (p.Met1132Arg)
|
rs2109496840
|
|
NM_025132.4(WDR19):c.3439A>G (p.Met1147Val)
|
rs886059401
|
|
NM_025132.4(WDR19):c.3449A>C (p.Asn1150Thr)
|
rs2109497125
|
|
NM_025132.4(WDR19):c.3466A>G (p.Ser1156Gly)
|
rs2109497278
|
|
NM_025132.4(WDR19):c.3470A>G (p.Tyr1157Cys)
|
rs1735198326
|
|
NM_025132.4(WDR19):c.3508A>G (p.Met1170Val)
|
rs371474583
|
|
NM_025132.4(WDR19):c.3511A>G (p.Lys1171Glu)
|
|
|
NM_025132.4(WDR19):c.3513A>T (p.Lys1171Asn)
|
rs765379022
|
|
NM_025132.4(WDR19):c.3520C>A (p.Arg1174Ser)
|
rs755139948
|
|
NM_025132.4(WDR19):c.3521G>T (p.Arg1174Leu)
|
rs372719724
|
|
NM_025132.4(WDR19):c.3545A>G (p.Asn1182Ser)
|
rs1277873234
|
|
NM_025132.4(WDR19):c.3547A>G (p.Ile1183Val)
|
|
|
NM_025132.4(WDR19):c.3566-6T>A
|
|
|
NM_025132.4(WDR19):c.3584C>T (p.Thr1195Met)
|
|
|
NM_025132.4(WDR19):c.3596T>C (p.Ile1199Thr)
|
|
|
NM_025132.4(WDR19):c.359A>T (p.Asn120Ile)
|
rs2109264782
|
|
NM_025132.4(WDR19):c.3614G>C (p.Gly1205Ala)
|
|
|
NM_025132.4(WDR19):c.3634A>G (p.Ser1212Gly)
|
|
|
NM_025132.4(WDR19):c.3636C>G (p.Ser1212Arg)
|
rs2109514971
|
|
NM_025132.4(WDR19):c.3651G>T (p.Leu1217Phe)
|
|
|
NM_025132.4(WDR19):c.3659C>T (p.Pro1220Leu)
|
rs1735748675
|
|
NM_025132.4(WDR19):c.3668G>C (p.Arg1223Pro)
|
|
|
NM_025132.4(WDR19):c.3681T>G (p.Asp1227Glu)
|
rs573727744
|
|
NM_025132.4(WDR19):c.3691A>G (p.Lys1231Glu)
|
|
|
NM_025132.4(WDR19):c.371A>G (p.Tyr124Cys)
|
rs2109264795
|
|
NM_025132.4(WDR19):c.3728T>C (p.Ile1243Thr)
|
|
|
NM_025132.4(WDR19):c.373A>C (p.Asn125His)
|
|
|
NM_025132.4(WDR19):c.376C>T (p.His126Tyr)
|
|
|
NM_025132.4(WDR19):c.3775C>A (p.Leu1259Ile)
|
rs886059403
|
|
NM_025132.4(WDR19):c.3784G>A (p.Glu1262Lys)
|
rs1553919125
|
|
NM_025132.4(WDR19):c.3788G>A (p.Cys1263Tyr)
|
rs1735978246
|
|
NM_025132.4(WDR19):c.3834T>G (p.Ile1278Met)
|
rs1735983084
|
|
NM_025132.4(WDR19):c.3851T>C (p.Met1284Thr)
|
rs1438498947
|
|
NM_025132.4(WDR19):c.3869C>T (p.Thr1290Met)
|
rs1301360733
|
|
NM_025132.4(WDR19):c.388C>G (p.Arg130Gly)
|
|
|
NM_025132.4(WDR19):c.3913_3917+1dup
|
rs1736099193
|
|
NM_025132.4(WDR19):c.3918C>T (p.Ile1306=)
|
|
|
NM_025132.4(WDR19):c.3926A>T (p.Asn1309Ile)
|
rs1736142058
|
|
NM_025132.4(WDR19):c.3946A>C (p.Met1316Leu)
|
rs1736144507
|
|
NM_025132.4(WDR19):c.3946A>T (p.Met1316Leu)
|
rs1736144507
|
|
NM_025132.4(WDR19):c.3959G>C (p.Arg1320Thr)
|
rs1736145510
|
|
NM_025132.4(WDR19):c.4006C>G (p.Leu1336Val)
|
|
|
NM_025132.4(WDR19):c.4006_4013del (p.Leu1336fs)
|
rs2109526590
|
|
NM_025132.4(WDR19):c.4009C>G (p.Arg1337Gly)
|
rs367721770
|
|
NM_025132.4(WDR19):c.4009C>T (p.Arg1337Ter)
|
|
|
NM_025132.4(WDR19):c.4010G>A (p.Arg1337Gln)
|
rs745506402
|
|
NM_025132.4(WDR19):c.4021G>A (p.Glu1341Lys)
|
|
|
NM_025132.4(WDR19):c.437G>A (p.Cys146Tyr)
|
|
|
NM_025132.4(WDR19):c.522+8A>G
|
|
|
NM_025132.4(WDR19):c.535T>C (p.Ser179Pro)
|
|
|
NM_025132.4(WDR19):c.53A>G (p.Gln18Arg)
|
|
|
NM_025132.4(WDR19):c.553C>G (p.Gln185Glu)
|
rs769602871
|
|
NM_025132.4(WDR19):c.580C>G (p.Arg194Gly)
|
rs1445634325
|
|
NM_025132.4(WDR19):c.603+17A>G
|
rs2109296086
|
|
NM_025132.4(WDR19):c.604A>G (p.Ile202Val)
|
|
|
NM_025132.4(WDR19):c.628A>G (p.Thr210Ala)
|
|
|
NM_025132.4(WDR19):c.631T>G (p.Leu211Val)
|
|
|
NM_025132.4(WDR19):c.636T>G (p.Phe212Leu)
|
rs1727819329
|
|
NM_025132.4(WDR19):c.650A>G (p.Asn217Ser)
|
|
|
NM_025132.4(WDR19):c.65A>C (p.Gln22Pro)
|
rs2109740775
|
|
NM_025132.4(WDR19):c.673C>A (p.Leu225Ile)
|
rs1727822059
|
|
NM_025132.4(WDR19):c.696C>T (p.Gly232=)
|
|
|
NM_025132.4(WDR19):c.697A>G (p.Asn233Asp)
|
|
|
NM_025132.4(WDR19):c.7-5T>G
|
rs1725441027
|
|
NM_025132.4(WDR19):c.716+4T>A
|
rs2109300292
|
|
NM_025132.4(WDR19):c.727G>A (p.Gly243Ser)
|
rs1727857328
|
|
NM_025132.4(WDR19):c.731G>C (p.Arg244Pro)
|
|
|
NM_025132.4(WDR19):c.77G>C (p.Gly26Ala)
|
rs2109740825
|
|
NM_025132.4(WDR19):c.7C>T (p.Arg3Cys)
|
|
|
NM_025132.4(WDR19):c.806T>C (p.Phe269Ser)
|
rs1727870637
|
|
NM_025132.4(WDR19):c.812C>T (p.Ala271Val)
|
rs981943939
|
|
NM_025132.4(WDR19):c.814C>T (p.Arg272Cys)
|
rs199812132
|
|
NM_025132.4(WDR19):c.815G>A (p.Arg272His)
|
|
|
NM_025132.4(WDR19):c.825_830del (p.Lys275_Asp276del)
|
|
|
NM_025132.4(WDR19):c.82T>C (p.Tyr28His)
|
|
|
NM_025132.4(WDR19):c.840C>G (p.Ser280Arg)
|
|
|
NM_025132.4(WDR19):c.841A>C (p.Ile281Leu)
|
rs1727876160
|
|
NM_025132.4(WDR19):c.925A>G (p.Met309Val)
|
|
|
NM_025132.4(WDR19):c.941A>G (p.Asn314Ser)
|
|
|
NM_025132.4(WDR19):c.956A>G (p.Asn319Ser)
|
rs1728875659
|
|
NM_025132.4(WDR19):c.959A>T (p.Lys320Ile)
|
rs1577897014
|
|