NM_000091.5(COL4A3):c.4929-145T>G
|
rs4455148
|
0.99995
|
NM_000091.5(COL4A3):c.4462+443A>G
|
rs4436947
|
0.99958
|
NM_000091.5(COL4A3):c.442-88A>G
|
rs4321358
|
0.97899
|
NM_000091.5(COL4A3):c.2375-66C>T
|
rs6436671
|
0.92995
|
NM_000091.5(COL4A3):c.3882+310A>G
|
rs10804333
|
0.92919
|
NM_000091.5(COL4A3):c.2223+100G>T
|
rs6729152
|
0.92901
|
NM_000091.5(COL4A3):c.3211-319T>C
|
rs4261710
|
0.92149
|
NM_000091.5(COL4A3):c.2881+46A>G
|
rs6436672
|
0.86693
|
NM_000091.5(COL4A3):c.4756-181C>T
|
rs10432551
|
0.80892
|
NM_000091.5(COL4A3):c.3883-210G>A
|
rs4271760
|
0.80741
|
NM_000091.5(COL4A3):c.2980+131C>T
|
rs7593281
|
0.80544
|
NM_000091.5(COL4A3):c.2980+173A>G
|
rs7566682
|
0.80503
|
NM_000091.5(COL4A3):c.469-269G>A
|
rs6436668
|
0.77336
|
NM_000091.5(COL4A3):c.145-99C>T
|
rs7579991
|
0.77329
|
NM_000091.5(COL4A3):c.441+197A>G
|
rs10192026
|
0.77323
|
NM_000091.5(COL4A3):c.485A>G (p.Glu162Gly)
|
rs6436669
|
0.77323
|
NM_000091.5(COL4A3):c.645+231C>G
|
rs4675160
|
0.77318
|
NM_000091.5(COL4A3):c.422T>C (p.Leu141Pro)
|
rs10178458
|
0.77314
|
NM_000091.5(COL4A3):c.765+49T>G
|
rs12621551
|
0.77016
|
NM_000091.5(COL4A3):c.324+246C>T
|
rs6750355
|
0.75240
|
NM_000091.5(COL4A3):c.279+267A>G
|
rs4675159
|
0.75177
|
NM_000091.5(COL4A3):c.441+146G>T
|
rs10168566
|
0.75094
|
NM_000091.5(COL4A3):c.280-41_280-40insG
|
rs113428834
|
0.75023
|
NM_000091.5(COL4A3):c.3751+263C>T
|
rs7606813
|
0.74336
|
NM_000091.5(COL4A3):c.2980+192C>A
|
rs7593299
|
0.74136
|
NM_000091.5(COL4A3):c.1195C>T (p.Leu399=)
|
rs10205042
|
0.72668
|
NM_000091.5(COL4A3):c.324+73C>T
|
rs6750210
|
0.72318
|
NM_000091.5(COL4A3):c.1576-306A>G
|
rs7606754
|
0.68900
|
NM_000091.5(COL4A3):c.766-232A>G
|
rs12694724
|
0.54992
|
NM_000091.5(COL4A3):c.1114+109A>G
|
rs4332918
|
0.53228
|
NM_000091.5(COL4A3):c.889-311T>G
|
rs6728122
|
0.40768
|
NM_000091.5(COL4A3):c.1721C>T (p.Pro574Leu)
|
rs28381984
|
0.38447
|
NM_000091.5(COL4A3):c.1029+246T>C
|
rs12621020
|
0.34251
|
NM_000091.5(COL4A3):c.144+181G>T
|
rs11901256
|
0.32906
|
NM_000091.5(COL4A3):c.144+182G>A
|
rs11901257
|
0.32812
|
NM_000091.5(COL4A3):c.828+59C>G
|
rs7559693
|
0.32638
|
NM_000091.5(COL4A3):c.3566-110T>G
|
rs62279162
|
0.31258
|
NM_000091.5(COL4A3):c.3955+273C>A
|
rs62279163
|
0.31197
|
NM_000091.5(COL4A3):c.144+12C>A
|
rs1882435
|
0.29027
|
NM_000091.5(COL4A3):c.4154-69C>T
|
rs11680670
|
0.27813
|
NM_000091.5(COL4A3):c.4928+198C>T
|
rs55761800
|
0.20280
|
NM_000091.5(COL4A3):c.765+154G>A
|
rs13409219
|
0.19360
|
NM_000091.5(COL4A3):c.976G>T (p.Asp326Tyr)
|
rs55703767
|
0.15364
|
NM_000091.5(COL4A3):c.3883-194G>A
|
rs10451555
|
0.14097
|
NM_000091.5(COL4A3):c.1576-60G>A
|
rs73993878
|
0.13711
|
NM_000091.5(COL4A3):c.1759-308T>A
|
rs78908239
|
0.13585
|
NM_000091.5(COL4A3):c.1505-287T>A
|
rs35064967
|
0.13062
|
NM_000091.5(COL4A3):c.2489-91_2489-90insT
|
rs1275114937
|
0.12722
|
NM_000091.5(COL4A3):c.828+20A>G
|
rs13386404
|
0.12468
|
NM_000091.5(COL4A3):c.3419-39C>T
|
rs4675163
|
0.12458
|
NM_000091.5(COL4A3):c.3751+195A>G
|
rs74266862
|
0.12068
|
NM_000091.5(COL4A3):c.546+186C>A
|
rs62277853
|
0.11571
|
NM_000091.5(COL4A3):c.3211-246G>A
|
rs55920965
|
0.11465
|
NM_000091.5(COL4A3):c.889-39T>C
|
rs28470865
|
0.11238
|
NM_000091.5(COL4A3):c.4755+193G>A
|
rs79118782
|
0.11043
|
NM_000091.5(COL4A3):c.4153+239del
|
rs139517145
|
0.11000
|
NM_000091.5(COL4A3):c.987+295A>C
|
rs10205097
|
0.10901
|
NM_000091.5(COL4A3):c.1504+100T>C
|
rs7582825
|
0.10648
|
NM_000091.5(COL4A3):c.1409-228G>A
|
rs10197580
|
0.10482
|
NM_000091.5(COL4A3):c.987+35T>G
|
rs10933172
|
0.10155
|
NM_000091.5(COL4A3):c.468+139C>T
|
rs12612699
|
0.10086
|
NM_000091.5(COL4A3):c.1352A>G (p.His451Arg)
|
rs11677877
|
0.08050
|
NM_000091.5(COL4A3):c.1452G>A (p.Gly484=)
|
rs34019152
|
0.07474
|
NM_000091.5(COL4A3):c.1759-122A>C
|
rs35793546
|
0.07311
|
NM_000091.5(COL4A3):c.888+30G>A
|
rs35467545
|
0.07260
|
NM_000091.5(COL4A3):c.1223G>A (p.Arg408His)
|
rs34505188
|
0.06909
|
NM_000091.5(COL4A3):c.1576-15T>G
|
rs56243460
|
0.06412
|
NM_000091.5(COL4A3):c.2223+221T>C
|
rs60539573
|
0.06399
|
NM_000091.5(COL4A3):c.2021-54T>C
|
rs55643512
|
0.06366
|
NM_000091.5(COL4A3):c.*286C>T
|
rs6436677
|
0.06341
|
NM_000091.5(COL4A3):c.280-40T>G
|
rs11386485
|
0.06240
|
NM_000091.5(COL4A3):c.687+103T>A
|
rs55997063
|
0.06185
|
NM_000091.5(COL4A3):c.2882-73C>T
|
rs7592926
|
0.06158
|
NM_000091.5(COL4A3):c.4463-119T>G
|
rs73993954
|
0.06120
|
NM_000091.5(COL4A3):c.3807C>A (p.Asp1269Glu)
|
rs57611801
|
0.06070
|
NM_000091.5(COL4A3):c.3419-14T>G
|
rs116133488
|
0.06066
|
NM_000091.5(COL4A3):c.4755+315G>A
|
rs138795208
|
0.04750
|
NM_000091.5(COL4A3):c.2489-220G>A
|
rs9917238
|
0.04745
|
NM_000091.5(COL4A3):c.1150+237G>A
|
rs151332517
|
0.04347
|
NM_000091.5(COL4A3):c.1115-20T>C
|
rs76304838
|
0.03709
|
NM_000091.5(COL4A3):c.829-212A>G
|
rs76979607
|
0.03708
|
NM_000091.5(COL4A3):c.3211-158G>T
|
rs56231260
|
0.03684
|
NM_000091.5(COL4A3):c.4756-194C>T
|
rs111345755
|
0.03247
|
NM_000091.5(COL4A3):c.766-13G>A
|
rs77431913
|
0.02920
|
NM_000091.5(COL4A3):c.3211-109A>C
|
rs59699546
|
0.02873
|
NM_000091.5(COL4A3):c.3752-248G>C
|
rs56058318
|
0.02869
|
NM_000091.5(COL4A3):c.805G>A (p.Glu269Lys)
|
rs80109666
|
0.02845
|
NM_000091.5(COL4A3):c.988-88A>G
|
rs55921350
|
0.02719
|
NM_000091.5(COL4A3):c.547-9A>C
|
rs55667591
|
0.02682
|
NM_000091.5(COL4A3):c.469-143A>T
|
rs112387221
|
0.02679
|
NM_000091.5(COL4A3):c.469-53G>T
|
rs111564047
|
0.02679
|
NM_000091.5(COL4A3):c.441+247A>G
|
rs76572401
|
0.02677
|
NM_000091.5(COL4A3):c.325-27C>T
|
rs112712399
|
0.02674
|
NM_000091.5(COL4A3):c.4041C>A (p.Asp1347Glu)
|
rs73996414
|
0.02579
|
NM_000091.5(COL4A3):c.2489-299G>T
|
rs141423662
|
0.02550
|
NM_000091.5(COL4A3):c.2981-198A>C
|
rs59951397
|
0.02417
|
NM_000091.5(COL4A3):c.933+14T>C
|
rs55928538
|
0.02412
|
NM_000091.5(COL4A3):c.280-43_280-41dup
|
rs199630222
|
0.02161
|
NM_000091.5(COL4A3):c.325-246T>C
|
rs74839186
|
0.02143
|
NM_000091.5(COL4A3):c.442-181C>T
|
rs111715526
|
0.02139
|
NM_000091.5(COL4A3):c.442-102A>G
|
rs80354712
|
0.02138
|
NM_000091.5(COL4A3):c.399G>A (p.Gly133=)
|
rs75683214
|
0.02133
|
NM_000091.5(COL4A3):c.3751+66C>T
|
rs55843236
|
0.02109
|
NM_000091.5(COL4A3):c.2715C>T (p.Pro905=)
|
rs75519005
|
0.01995
|
NM_000091.5(COL4A3):c.1315+64G>A
|
rs79202137
|
0.01979
|
NM_000091.5(COL4A3):c.766-75G>C
|
rs75058990
|
0.01978
|
NM_000091.5(COL4A3):c.4252+156G>A
|
rs75703762
|
0.01967
|
NM_000091.5(COL4A3):c.988-80T>C
|
rs56326869
|
0.01910
|
NM_000091.5(COL4A3):c.687+69G>A
|
rs56991885
|
0.01727
|
NM_000091.5(COL4A3):c.645+304G>A
|
rs75890569
|
0.01671
|
NM_000091.5(COL4A3):c.469-292G>C
|
rs146191303
|
0.01493
|
NM_000091.5(COL4A3):c.646-262G>A
|
rs111574033
|
0.01430
|
NM_000091.5(COL4A3):c.442-63G>C
|
rs111234988
|
0.01309
|
NM_000091.5(COL4A3):c.1759-301T>C
|
rs116390470
|
0.01291
|
NM_000091.5(COL4A3):c.2501A>G (p.Lys834Arg)
|
rs56226424
|
0.01064
|
NM_000091.5(COL4A3):c.2489-139C>T
|
rs115144153
|
0.01029
|
NM_000091.5(COL4A3):c.2656+307G>A
|
rs74966112
|
0.01023
|
NM_000091.5(COL4A3):c.2657-98A>G
|
rs75442509
|
0.01016
|
NM_000091.5(COL4A3):c.3518-42G>A
|
rs79386347
|
0.01014
|
NM_000091.5(COL4A3):c.3751+122C>T
|
rs115366330
|
0.00998
|
NM_000091.5(COL4A3):c.1505-11T>C
|
rs115757151
|
0.00959
|
NM_000091.5(COL4A3):c.2374+114T>C
|
rs74718246
|
0.00955
|
NM_000091.5(COL4A3):c.388-116C>T
|
rs73080061
|
0.00920
|
NM_000091.5(COL4A3):c.1409-191A>G
|
rs77649827
|
0.00892
|
NM_000091.5(COL4A3):c.88-4C>T
|
rs148393022
|
0.00744
|
NM_000091.5(COL4A3):c.4755+287T>A
|
rs191307548
|
0.00720
|
NM_000091.5(COL4A3):c.469-270C>T
|
rs149915801
|
0.00718
|
NM_000091.5(COL4A3):c.1030-54G>A
|
rs114550460
|
0.00672
|
NM_000091.5(COL4A3):c.889-122T>C
|
rs112006850
|
0.00652
|
NM_000091.5(COL4A3):c.765+39G>A
|
rs181687865
|
0.00625
|
NM_000091.5(COL4A3):c.1150+270C>T
|
rs56774629
|
0.00619
|
NM_000091.5(COL4A3):c.646-181A>G
|
rs149724182
|
0.00615
|
NM_000091.5(COL4A3):c.2746+147C>T
|
rs74469238
|
0.00590
|
NM_000091.5(COL4A3):c.2657-152C>T
|
rs116468506
|
0.00589
|
NM_000091.5(COL4A3):c.1315+200T>C
|
rs111886652
|
0.00585
|
NM_000091.5(COL4A3):c.1398T>C (p.Asp466=)
|
rs145833114
|
0.00584
|
NM_000091.5(COL4A3):c.934-41C>G
|
rs79846948
|
0.00583
|
NM_000091.5(COL4A3):c.4484A>G (p.Gln1495Arg)
|
rs77964815
|
0.00573
|
NM_000091.5(COL4A3):c.469-272C>T
|
rs139184640
|
0.00570
|
NM_000091.5(COL4A3):c.4463-244T>C
|
rs137954309
|
0.00545
|
NM_000091.5(COL4A3):c.888+107T>C
|
rs149139015
|
0.00543
|
NM_000091.5(COL4A3):c.3955+206T>C
|
rs143460121
|
0.00511
|
NM_000091.5(COL4A3):c.4380T>C (p.Cys1460=)
|
rs114430490
|
0.00507
|
NM_000091.5(COL4A3):c.4756-250G>A
|
rs141809524
|
0.00507
|
NM_000091.5(COL4A3):c.346C>A (p.Pro116Thr)
|
rs115324397
|
0.00485
|
NM_000091.5(COL4A3):c.1928-219A>G
|
rs115266881
|
0.00480
|
NM_000091.5(COL4A3):c.2021-173G>A
|
rs138839495
|
0.00472
|
NM_000091.5(COL4A3):c.2126-44A>G
|
rs115997895
|
0.00454
|
NM_000091.5(COL4A3):c.4756-40A>G
|
rs114123904
|
0.00452
|
NM_000091.5(COL4A3):c.468+72T>C
|
rs78706558
|
0.00432
|
NM_000091.5(COL4A3):c.546+159T>C
|
rs116673692
|
0.00431
|
NM_000091.5(COL4A3):c.3210+316A>G
|
rs139904583
|
0.00420
|
NM_000091.5(COL4A3):c.3325C>T (p.Pro1109Ser)
|
rs55816283
|
0.00412
|
NM_000091.5(COL4A3):c.1576-153A>T
|
rs188186170
|
0.00399
|
NM_000091.5(COL4A3):c.3258G>A (p.Gly1086=)
|
rs147085074
|
0.00385
|
NM_000091.5(COL4A3):c.3956-272G>A
|
rs565465628
|
0.00366
|
NM_000091.5(COL4A3):c.4707A>T (p.Pro1569=)
|
rs113401495
|
0.00364
|
NM_000091.5(COL4A3):c.3071-268G>A
|
rs144021543
|
0.00357
|
NM_000091.5(COL4A3):c.4893C>T (p.Phe1631=)
|
rs183218622
|
0.00344
|
NM_000091.5(COL4A3):c.3566-10T>C
|
rs114719458
|
0.00331
|
NM_000091.5(COL4A3):c.2656+81G>A
|
rs138200928
|
0.00327
|
NM_000091.5(COL4A3):c.3752-94T>C
|
rs149196283
|
0.00327
|
NM_000091.5(COL4A3):c.828+50T>C
|
rs113079601
|
0.00286
|
NM_000091.5(COL4A3):c.2475G>C (p.Leu825Phe)
|
rs192027050
|
0.00262
|
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro)
|
rs200302125
|
0.00257
|
NM_000091.5(COL4A3):c.4252+43G>A
|
rs115173647
|
0.00237
|
NM_000091.5(COL4A3):c.3031C>T (p.Arg1011Cys)
|
rs73996408
|
0.00233
|
NM_000091.5(COL4A3):c.987+20C>G
|
rs141425127
|
0.00222
|
NM_000091.5(COL4A3):c.4665G>A (p.Ala1555=)
|
rs200858199
|
0.00210
|
NM_000091.5(COL4A3):c.3210+78G>A
|
rs531021839
|
0.00199
|
NM_000091.5(COL4A3):c.1316-24G>A
|
rs77641809
|
0.00185
|
NM_000091.5(COL4A3):c.3566-9T>C
|
rs147886850
|
0.00184
|
NM_000091.5(COL4A3):c.4445C>T (p.Ala1482Val)
|
rs199755408
|
0.00159
|
NM_000091.5(COL4A3):c.4756-13A>T
|
rs190701197
|
0.00135
|
NM_000091.5(COL4A3):c.112C>G (p.Gln38Glu)
|
rs201607115
|
0.00132
|
NM_000091.5(COL4A3):c.144+18T>G
|
rs181040690
|
0.00124
|
NM_000091.5(COL4A3):c.2886C>T (p.Phe962=)
|
rs77846212
|
0.00123
|
NM_000091.5(COL4A3):c.3939G>A (p.Gly1313=)
|
rs141552752
|
0.00121
|
NM_000091.5(COL4A3):c.1483C>T (p.His495Tyr)
|
rs200510532
|
0.00110
|
NM_000091.5(COL4A3):c.1030-18G>A
|
rs75171342
|
0.00109
|
NM_000091.5(COL4A3):c.1886C>T (p.Thr629Met)
|
rs139361545
|
0.00107
|
NM_000091.5(COL4A3):c.222G>T (p.Pro74=)
|
rs187950806
|
0.00096
|
NM_000091.5(COL4A3):c.4295G>A (p.Arg1432His)
|
rs200509072
|
0.00080
|
NM_000091.5(COL4A3):c.573T>C (p.Pro191=)
|
rs375503109
|
0.00078
|
NM_000091.5(COL4A3):c.3627G>A (p.Met1209Ile)
|
rs200562865
|
0.00076
|
NM_000091.5(COL4A3):c.3752-50C>A
|
rs79772251
|
0.00076
|
NM_000091.5(COL4A3):c.469-94T>G
|
rs371328070
|
0.00075
|
NM_000091.5(COL4A3):c.274G>C (p.Val92Leu)
|
rs200873401
|
0.00070
|
NM_000091.5(COL4A3):c.888+17G>A
|
rs199840268
|
0.00068
|
NM_000091.5(COL4A3):c.136G>A (p.Gly46Arg)
|
rs200866082
|
0.00067
|
NM_000091.5(COL4A3):c.4462+457C>T
|
rs536172088
|
0.00062
|
NM_000091.5(COL4A3):c.2020+18A>C
|
rs374992426
|
0.00061
|
NM_000091.5(COL4A3):c.2489-8G>A
|
rs201846272
|
0.00061
|
NM_000091.5(COL4A3):c.4494C>G (p.Thr1498=)
|
rs200454769
|
0.00058
|
NM_000091.5(COL4A3):c.171C>T (p.Pro57=)
|
rs368291735
|
0.00049
|
NM_000091.5(COL4A3):c.1516G>A (p.Ala506Thr)
|
rs188967260
|
0.00048
|
NM_000091.5(COL4A3):c.829-15C>T
|
rs201021733
|
0.00046
|
NM_000091.5(COL4A3):c.2826C>T (p.Pro942=)
|
rs201064766
|
0.00045
|
NM_000091.5(COL4A3):c.3440C>T (p.Ser1147Phe)
|
rs200107989
|
0.00044
|
NM_000091.5(COL4A3):c.4252+27G>A
|
rs371392843
|
0.00039
|
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys)
|
rs201697532
|
0.00039
|
NM_000091.5(COL4A3):c.1505-12G>A
|
rs114658110
|
0.00036
|
NM_000091.5(COL4A3):c.2489-18T>A
|
rs79573480
|
0.00035
|
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser)
|
rs190598500
|
0.00035
|
NM_000091.5(COL4A3):c.3270A>C (p.Pro1090=)
|
rs201989155
|
0.00032
|
NM_000091.5(COL4A3):c.204T>C (p.Pro68=)
|
rs200170381
|
0.00026
|
NM_000091.5(COL4A3):c.2848G>A (p.Val950Ile)
|
rs200044988
|
0.00026
|
NM_000091.5(COL4A3):c.987+148A>C
|
rs191544169
|
0.00026
|
NM_000091.5(COL4A3):c.1353C>T (p.His451=)
|
rs189364374
|
0.00025
|
NM_000091.5(COL4A3):c.3182G>A (p.Gly1061Asp)
|
rs202078295
|
0.00025
|
NM_000091.5(COL4A3):c.2168C>T (p.Pro723Leu)
|
rs201198284
|
0.00024
|
NM_000091.5(COL4A3):c.221C>T (p.Pro74Leu)
|
rs373975901
|
0.00024
|
NM_000091.5(COL4A3):c.4510T>C (p.Phe1504Leu)
|
rs201671013
|
0.00024
|
NM_000091.5(COL4A3):c.532G>A (p.Ala178Thr)
|
rs188324379
|
0.00023
|
NM_000091.5(COL4A3):c.2699T>C (p.Ile900Thr)
|
rs201665434
|
0.00022
|
NM_000091.5(COL4A3):c.4523A>G (p.Asn1508Ser)
|
rs200512461
|
0.00022
|
NM_000091.5(COL4A3):c.3945A>G (p.Pro1315=)
|
rs189574905
|
0.00021
|
NM_000091.5(COL4A3):c.280-129G>A
|
rs190001013
|
0.00020
|
NM_000091.5(COL4A3):c.2995T>C (p.Leu999=)
|
rs371574290
|
0.00017
|
NM_000091.5(COL4A3):c.1310C>T (p.Pro437Leu)
|
rs148686474
|
0.00016
|
NM_000091.5(COL4A3):c.1362A>T (p.Pro454=)
|
rs377373374
|
0.00016
|
NM_000091.5(COL4A3):c.2083G>A (p.Gly695Arg)
|
rs200287952
|
0.00016
|
NM_000091.5(COL4A3):c.2376A>C (p.Gly792=)
|
rs373177798
|
0.00016
|
NM_000091.5(COL4A3):c.2391T>C (p.Pro797=)
|
rs187921460
|
0.00016
|
NM_000091.5(COL4A3):c.2125+14T>A
|
rs563131123
|
0.00014
|
NM_000091.5(COL4A3):c.3094T>C (p.Leu1032=)
|
rs372423505
|
0.00014
|
NM_000091.5(COL4A3):c.3132A>C (p.Pro1044=)
|
rs554940562
|
0.00014
|
NM_000091.5(COL4A3):c.3751+7G>A
|
rs750554079
|
0.00014
|
NM_000091.5(COL4A3):c.442-15T>C
|
rs770450269
|
0.00013
|
NM_000091.5(COL4A3):c.468+8A>G
|
rs374368957
|
0.00013
|
NM_000091.5(COL4A3):c.688-8G>T
|
rs748843785
|
0.00013
|
NM_000091.5(COL4A3):c.4407T>C (p.Ser1469=)
|
rs373720128
|
0.00012
|
NM_000091.5(COL4A3):c.1790C>T (p.Pro597Leu)
|
rs781163705
|
0.00011
|
NM_000091.5(COL4A3):c.3227C>T (p.Pro1076Leu)
|
rs200984988
|
0.00011
|
NM_000091.5(COL4A3):c.3419-8T>G
|
rs754483986
|
0.00011
|
NM_000091.5(COL4A3):c.3644G>A (p.Arg1215Gln)
|
rs200443942
|
0.00011
|
NM_000091.5(COL4A3):c.3882+10G>A
|
rs78980950
|
0.00011
|
NM_000091.5(COL4A3):c.4449C>T (p.His1483=)
|
rs140672401
|
0.00011
|
NM_000091.5(COL4A3):c.685C>T (p.Arg229Trp)
|
rs759074046
|
0.00011
|
NM_000091.5(COL4A3):c.2887G>A (p.Ala963Thr)
|
rs200801946
|
0.00010
|
NM_000091.5(COL4A3):c.4253-11G>C
|
rs367670394
|
0.00010
|
NM_000091.5(COL4A3):c.260C>T (p.Thr87Met)
|
rs377136253
|
0.00009
|
NM_000091.5(COL4A3):c.2636C>T (p.Pro879Leu)
|
rs368342782
|
0.00009
|
NM_000091.5(COL4A3):c.2662G>A (p.Asp888Asn)
|
rs376762135
|
0.00009
|
NM_000091.5(COL4A3):c.3196C>T (p.Pro1066Ser)
|
rs377003650
|
0.00009
|
NM_000091.5(COL4A3):c.3255G>A (p.Met1085Ile)
|
rs374427586
|
0.00009
|
NM_000091.5(COL4A3):c.4755+18A>G
|
rs553695911
|
0.00009
|
NM_000091.5(COL4A3):c.494T>C (p.Ile165Thr)
|
rs144036466
|
0.00009
|
NM_000091.5(COL4A3):c.145-16G>A
|
rs374322682
|
0.00008
|
NM_000091.5(COL4A3):c.3755C>T (p.Ala1252Val)
|
rs761179248
|
0.00008
|
NM_000091.5(COL4A3):c.1802C>T (p.Pro601Leu)
|
rs369567469
|
0.00007
|
NM_000091.5(COL4A3):c.2961C>T (p.Pro987=)
|
rs375523118
|
0.00007
|
NM_000091.5(COL4A3):c.3395C>A (p.Pro1132His)
|
rs893516153
|
0.00007
|
NM_000091.5(COL4A3):c.3476G>A (p.Arg1159His)
|
rs145948549
|
0.00007
|
NM_000091.5(COL4A3):c.4314T>C (p.Pro1438=)
|
rs750401163
|
0.00007
|
NM_000091.5(COL4A3):c.599C>T (p.Pro200Leu)
|
rs368480491
|
0.00007
|
NM_000091.5(COL4A3):c.765+10C>T
|
rs889261148
|
0.00007
|
NM_000091.5(COL4A3):c.1256C>A (p.Ser419Tyr)
|
rs201031986
|
0.00006
|
NM_000091.5(COL4A3):c.1459G>A (p.Gly487Ser)
|
rs745472969
|
0.00006
|
NM_000091.5(COL4A3):c.1576-6C>T
|
rs202210023
|
0.00006
|
NM_000091.5(COL4A3):c.3228G>A (p.Pro1076=)
|
rs200125890
|
0.00006
|
NM_000091.5(COL4A3):c.3565+9T>G
|
rs750406964
|
0.00006
|
NM_000091.5(COL4A3):c.4253-14T>C
|
rs747386514
|
0.00006
|
NM_000091.5(COL4A3):c.4398A>C (p.Pro1466=)
|
rs184847026
|
0.00006
|
NM_000091.5(COL4A3):c.4649T>G (p.Val1550Gly)
|
rs200655479
|
0.00006
|
NM_000091.5(COL4A3):c.513C>T (p.Gly171=)
|
rs199514043
|
0.00006
|
NM_000091.5(COL4A3):c.987+17T>C
|
rs201127190
|
0.00006
|
NM_000091.5(COL4A3):c.1075C>G (p.Pro359Ala)
|
rs757538073
|
0.00005
|
NM_000091.5(COL4A3):c.1096G>A (p.Gly366Arg)
|
rs539765620
|
0.00005
|
NM_000091.5(COL4A3):c.1216C>T (p.Arg406Ter)
|
rs371334239
|
0.00005
|
NM_000091.5(COL4A3):c.1637C>T (p.Pro546Leu)
|
rs772037798
|
0.00005
|
NM_000091.5(COL4A3):c.1928-4T>C
|
rs376327706
|
0.00005
|
NM_000091.5(COL4A3):c.1992del (p.Gly665fs)
|
rs751677704
|
0.00005
|
NM_000091.5(COL4A3):c.2637G>A (p.Pro879=)
|
rs755312698
|
0.00005
|
NM_000091.5(COL4A3):c.2847C>T (p.His949=)
|
rs373842619
|
0.00005
|
NM_000091.5(COL4A3):c.3225G>T (p.Leu1075=)
|
rs763010804
|
0.00005
|
NM_000091.5(COL4A3):c.325-20G>A
|
rs760968700
|
0.00005
|
NM_000091.5(COL4A3):c.3419-15T>G
|
rs61000296
|
0.00005
|
NM_000091.5(COL4A3):c.3577G>A (p.Asp1193Asn)
|
rs972796332
|
0.00005
|
NM_000091.5(COL4A3):c.4034G>A (p.Arg1345His)
|
rs553185617
|
0.00005
|
NM_000091.5(COL4A3):c.4482G>A (p.Leu1494=)
|
rs181952966
|
0.00005
|
NM_000091.5(COL4A3):c.675T>G (p.His225Gln)
|
rs367635426
|
0.00005
|
NM_000091.5(COL4A3):c.888+16C>T
|
rs376058988
|
0.00005
|
NM_000091.5(COL4A3):c.1039T>A (p.Tyr347Asn)
|
rs765336013
|
0.00004
|
NM_000091.5(COL4A3):c.1115-12A>G
|
rs761088575
|
0.00004
|
NM_000091.5(COL4A3):c.126C>T (p.Asp42=)
|
rs369251968
|
0.00004
|
NM_000091.5(COL4A3):c.1408+18T>A
|
rs368659326
|
0.00004
|
NM_000091.5(COL4A3):c.1505-4G>T
|
rs370180728
|
0.00004
|
NM_000091.5(COL4A3):c.172G>A (p.Gly58Ser)
|
rs184730597
|
0.00004
|
NM_000091.5(COL4A3):c.1854C>T (p.Tyr618=)
|
rs772408250
|
0.00004
|
NM_000091.5(COL4A3):c.1917C>T (p.Pro639=)
|
rs369320502
|
0.00004
|
NM_000091.5(COL4A3):c.2125+13T>C
|
rs777353565
|
0.00004
|
NM_000091.5(COL4A3):c.2133A>G (p.Gln711=)
|
rs527383673
|
0.00004
|
NM_000091.5(COL4A3):c.2282G>A (p.Arg761Lys)
|
rs747356302
|
0.00004
|
NM_000091.5(COL4A3):c.2767G>A (p.Val923Ile)
|
rs917860017
|
0.00004
|
NM_000091.5(COL4A3):c.3032G>A (p.Arg1011His)
|
rs772164474
|
0.00004
|
NM_000091.5(COL4A3):c.3211-13G>C
|
rs200555661
|
0.00004
|
NM_000091.5(COL4A3):c.3540C>T (p.Gly1180=)
|
rs751106507
|
0.00004
|
NM_000091.5(COL4A3):c.3643C>T (p.Arg1215Ter)
|
rs368434069
|
0.00004
|
NM_000091.5(COL4A3):c.3672A>G (p.Pro1224=)
|
rs768260547
|
0.00004
|
NM_000091.5(COL4A3):c.3791T>C (p.Ile1264Thr)
|
rs780533498
|
0.00004
|
NM_000091.5(COL4A3):c.3956G>A (p.Gly1319Glu)
|
rs1178734829
|
0.00004
|
NM_000091.5(COL4A3):c.4677C>T (p.Ala1559=)
|
rs764663555
|
0.00004
|
NM_000091.5(COL4A3):c.4716C>T (p.His1572=)
|
rs755823670
|
0.00004
|
NM_000091.5(COL4A3):c.4772C>T (p.Ser1591Phe)
|
rs558813497
|
0.00004
|
NM_000091.5(COL4A3):c.4819G>T (p.Glu1607Ter)
|
rs764046610
|
0.00004
|
NM_000091.5(COL4A3):c.514G>A (p.Asp172Asn)
|
rs377575924
|
0.00004
|
NM_000091.5(COL4A3):c.516C>T (p.Asp172=)
|
rs759455097
|
0.00004
|
NM_000091.5(COL4A3):c.672A>G (p.Gly224=)
|
rs375059614
|
0.00004
|
NM_000091.5(COL4A3):c.717A>G (p.Gly239=)
|
rs377503376
|
0.00004
|
NM_000091.5(COL4A3):c.870T>C (p.Pro290=)
|
rs373130348
|
0.00004
|
NM_000091.5(COL4A3):c.934-6C>A
|
rs369438839
|
0.00004
|
NM_000091.5(COL4A3):c.988-6C>T
|
rs762463604
|
0.00004
|
NM_000091.5(COL4A3):c.1022G>A (p.Arg341His)
|
rs200738124
|
0.00003
|
NM_000091.5(COL4A3):c.1437C>T (p.Cys479=)
|
rs748691382
|
0.00003
|
NM_000091.5(COL4A3):c.1450G>A (p.Gly484Arg)
|
rs777401300
|
0.00003
|
NM_000091.5(COL4A3):c.1515C>T (p.Gly505=)
|
rs200416402
|
0.00003
|
NM_000091.5(COL4A3):c.1668G>A (p.Pro556=)
|
rs766050133
|
0.00003
|
NM_000091.5(COL4A3):c.1798G>A (p.Asp600Asn)
|
rs781224368
|
0.00003
|
NM_000091.5(COL4A3):c.2082A>G (p.Pro694=)
|
rs767541394
|
0.00003
|
NM_000091.5(COL4A3):c.2489-9C>T
|
rs749574789
|
0.00003
|
NM_000091.5(COL4A3):c.2505G>A (p.Thr835=)
|
rs773775225
|
0.00003
|
NM_000091.5(COL4A3):c.2740C>A (p.Gln914Lys)
|
rs761717909
|
0.00003
|
NM_000091.5(COL4A3):c.3337+6G>C
|
rs1008678288
|
0.00003
|
NM_000091.5(COL4A3):c.3338-8A>G
|
rs765322631
|
0.00003
|
NM_000091.5(COL4A3):c.3588C>G (p.Ala1196=)
|
rs767337248
|
0.00003
|
NM_000091.5(COL4A3):c.3986C>G (p.Ser1329Cys)
|
rs1390815554
|
0.00003
|
NM_000091.5(COL4A3):c.4059T>C (p.Ile1353=)
|
rs374672854
|
0.00003
|
NM_000091.5(COL4A3):c.4191A>G (p.Gly1397=)
|
rs749383198
|
0.00003
|
NM_000091.5(COL4A3):c.4365A>G (p.Thr1455=)
|
rs377008307
|
0.00003
|
NM_000091.5(COL4A3):c.4441C>T (p.Arg1481Ter)
|
rs121912824
|
0.00003
|
NM_000091.5(COL4A3):c.4678G>A (p.Val1560Ile)
|
rs574102153
|
0.00003
|
NM_000091.5(COL4A3):c.4700T>G (p.Ile1567Ser)
|
rs371452712
|
0.00003
|
NM_000091.5(COL4A3):c.4825C>T (p.Arg1609Ter)
|
rs756231749
|
0.00003
|
NM_000091.5(COL4A3):c.4994G>A (p.Cys1665Tyr)
|
rs376550779
|
0.00003
|
NM_000091.5(COL4A3):c.714G>A (p.Pro238=)
|
rs555225084
|
0.00003
|
NM_000091.5(COL4A3):c.756T>A (p.Asp252Glu)
|
rs1412919917
|
0.00003
|
NM_000091.5(COL4A3):c.1030-8C>A
|
rs1251940156
|
0.00002
|
NM_000091.5(COL4A3):c.1131C>T (p.Pro377=)
|
rs764659723
|
0.00002
|
NM_000091.5(COL4A3):c.1295C>T (p.Pro432Leu)
|
rs534253913
|
0.00002
|
NM_000091.5(COL4A3):c.1372G>C (p.Gly458Arg)
|
rs757341933
|
0.00002
|
NM_000091.5(COL4A3):c.1396G>A (p.Asp466Asn)
|
rs541071302
|
0.00002
|
NM_000091.5(COL4A3):c.1458C>T (p.Pro486=)
|
rs540034262
|
0.00002
|
NM_000091.5(COL4A3):c.1662T>G (p.Gly554=)
|
rs775576225
|
0.00002
|
NM_000091.5(COL4A3):c.1875T>C (p.Gly625=)
|
rs748004604
|
0.00002
|
NM_000091.5(COL4A3):c.1908C>T (p.Pro636=)
|
rs751356130
|
0.00002
|
NM_000091.5(COL4A3):c.1978C>A (p.Pro660Thr)
|
rs773674552
|
0.00002
|
NM_000091.5(COL4A3):c.2004C>A (p.Gly668=)
|
rs773180822
|
0.00002
|
NM_000091.5(COL4A3):c.2005C>T (p.Pro669Ser)
|
rs760523928
|
0.00002
|
NM_000091.5(COL4A3):c.2028T>C (p.Pro676=)
|
rs746620176
|
0.00002
|
NM_000091.5(COL4A3):c.2054C>T (p.Pro685Leu)
|
rs759579342
|
0.00002
|
NM_000091.5(COL4A3):c.206A>C (p.Glu69Ala)
|
rs755344973
|
0.00002
|
NM_000091.5(COL4A3):c.2148A>G (p.Thr716=)
|
rs777485792
|
0.00002
|
NM_000091.5(COL4A3):c.235-10T>C
|
rs368588606
|
0.00002
|
NM_000091.5(COL4A3):c.2424G>A (p.Arg808=)
|
rs759352023
|
0.00002
|
NM_000091.5(COL4A3):c.2473T>C (p.Leu825=)
|
rs1216458901
|
0.00002
|
NM_000091.5(COL4A3):c.2488+7G>C
|
rs1289827238
|
0.00002
|
NM_000091.5(COL4A3):c.2535del (p.Leu846fs)
|
rs993103826
|
0.00002
|
NM_000091.5(COL4A3):c.2727A>G (p.Pro909=)
|
rs774810018
|
0.00002
|
NM_000091.5(COL4A3):c.2747-4T>C
|
rs772016854
|
0.00002
|
NM_000091.5(COL4A3):c.2919C>T (p.Gly973=)
|
rs758181560
|
0.00002
|
NM_000091.5(COL4A3):c.2938T>C (p.Leu980=)
|
rs1182913913
|
0.00002
|
NM_000091.5(COL4A3):c.2954G>T (p.Gly985Val)
|
rs121912827
|
0.00002
|
NM_000091.5(COL4A3):c.360C>T (p.Val120=)
|
rs756033791
|
0.00002
|
NM_000091.5(COL4A3):c.3691G>A (p.Gly1231Ser)
|
rs761518401
|
0.00002
|
NM_000091.5(COL4A3):c.391G>T (p.Glu131Ter)
|
rs1346138010
|
0.00002
|
NM_000091.5(COL4A3):c.4027+10C>T
|
rs778737711
|
0.00002
|
NM_000091.5(COL4A3):c.4252+8C>T
|
rs759150768
|
0.00002
|
NM_000091.5(COL4A3):c.4374T>A (p.Pro1458=)
|
rs774014338
|
0.00002
|
NM_000091.5(COL4A3):c.4572A>C (p.Ser1524=)
|
rs757897854
|
0.00002
|
NM_000091.5(COL4A3):c.468+9T>C
|
rs754471166
|
0.00002
|
NM_000091.5(COL4A3):c.469G>C (p.Gly157Arg)
|
rs764451365
|
0.00002
|
NM_000091.5(COL4A3):c.4803del (p.Gly1602fs)
|
rs760846085
|
0.00002
|
NM_000091.5(COL4A3):c.4849C>A (p.His1617Asn)
|
rs779137269
|
0.00002
|
NM_000091.5(COL4A3):c.492T>C (p.Asp164=)
|
rs1313252073
|
0.00002
|
NM_000091.5(COL4A3):c.568T>C (p.Phe190Leu)
|
rs371173786
|
0.00002
|
NM_000091.5(COL4A3):c.897C>T (p.Pro299=)
|
rs368027756
|
0.00002
|
NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg)
|
rs772708743
|
0.00002
|
NM_000091.5(COL4A3):c.964T>C (p.Leu322=)
|
rs1213929853
|
0.00002
|
NM_000091.5(COL4A3):c.1051C>T (p.Gln351Ter)
|
rs1218470259
|
0.00001
|
NM_000091.5(COL4A3):c.1114+163T>C
|
rs368657129
|
0.00001
|
NM_000091.5(COL4A3):c.1125T>C (p.Gly375=)
|
rs1236240631
|
0.00001
|
NM_000091.5(COL4A3):c.1237G>A (p.Ala413Thr)
|
rs756073120
|
0.00001
|
NM_000091.5(COL4A3):c.1270G>T (p.Gly424Cys)
|
rs776919202
|
0.00001
|
NM_000091.5(COL4A3):c.1296G>A (p.Pro432=)
|
rs775957977
|
0.00001
|
NM_000091.5(COL4A3):c.1315+10T>A
|
rs201648513
|
0.00001
|
NM_000091.5(COL4A3):c.1356A>C (p.Gly452=)
|
rs1228023852
|
0.00001
|
NM_000091.5(COL4A3):c.1371A>G (p.Leu457=)
|
rs1387851327
|
0.00001
|
NM_000091.5(COL4A3):c.1372G>A (p.Gly458Arg)
|
rs757341933
|
0.00001
|
NM_000091.5(COL4A3):c.1409-6T>C
|
rs750453798
|
0.00001
|
NM_000091.5(COL4A3):c.1427G>C (p.Cys476Ser)
|
rs1041119510
|
0.00001
|
NM_000091.5(COL4A3):c.1491A>C (p.Val497=)
|
rs1045149231
|
0.00001
|
NM_000091.5(COL4A3):c.1505-2A>C
|
rs1247804051
|
0.00001
|
NM_000091.5(COL4A3):c.1539A>C (p.Pro513=)
|
rs749945759
|
0.00001
|
NM_000091.5(COL4A3):c.1576-8T>C
|
rs768102590
|
0.00001
|
NM_000091.5(COL4A3):c.1584del (p.Gly529fs)
|
rs1380904813
|
0.00001
|
NM_000091.5(COL4A3):c.1594G>T (p.Gly532Cys)
|
rs779575469
|
0.00001
|
NM_000091.5(COL4A3):c.159T>C (p.Phe53=)
|
rs1217941846
|
0.00001
|
NM_000091.5(COL4A3):c.1669G>A (p.Gly557Arg)
|
rs1457269547
|
0.00001
|
NM_000091.5(COL4A3):c.1671G>T (p.Gly557=)
|
rs1396250551
|
0.00001
|
NM_000091.5(COL4A3):c.1674C>T (p.Leu558=)
|
rs762241502
|
0.00001
|
NM_000091.5(COL4A3):c.1855G>A (p.Gly619Arg)
|
rs773515249
|
0.00001
|
NM_000091.5(COL4A3):c.1860C>T (p.Pro620=)
|
rs376896231
|
0.00001
|
NM_000091.5(COL4A3):c.1909G>A (p.Gly637Arg)
|
rs761686437
|
0.00001
|
NM_000091.5(COL4A3):c.1918G>A (p.Gly640Arg)
|
rs200672668
|
0.00001
|
NM_000091.5(COL4A3):c.1923A>C (p.Glu641Asp)
|
rs752819997
|
0.00001
|
NM_000091.5(COL4A3):c.1926C>T (p.Ala642=)
|
rs758586879
|
0.00001
|
NM_000091.5(COL4A3):c.1927+2T>C
|
rs1158937060
|
0.00001
|
NM_000091.5(COL4A3):c.1927G>A (p.Gly643Ser)
|
rs778034451
|
0.00001
|
NM_000091.5(COL4A3):c.1932T>A (p.Pro644=)
|
rs1469882111
|
0.00001
|
NM_000091.5(COL4A3):c.1944C>T (p.Leu648=)
|
rs199554662
|
0.00001
|
NM_000091.5(COL4A3):c.2007C>G (p.Pro669=)
|
rs776741595
|
0.00001
|
NM_000091.5(COL4A3):c.2012G>A (p.Gly671Asp)
|
rs1085307955
|
0.00001
|
NM_000091.5(COL4A3):c.2040G>C (p.Gly680=)
|
rs776512229
|
0.00001
|
NM_000091.5(COL4A3):c.2046T>C (p.Cys682=)
|
rs367628136
|
0.00001
|
NM_000091.5(COL4A3):c.2064A>G (p.Pro688=)
|
rs1378249694
|
0.00001
|
NM_000091.5(COL4A3):c.2096T>C (p.Ile699Thr)
|
rs754146345
|
0.00001
|
NM_000091.5(COL4A3):c.2126-4G>A
|
rs765596584
|
0.00001
|
NM_000091.5(COL4A3):c.2224-2A>G
|
rs1246102682
|
0.00001
|
NM_000091.5(COL4A3):c.2224-9A>G
|
rs754955981
|
0.00001
|
NM_000091.5(COL4A3):c.2309T>C (p.Ile770Thr)
|
rs762337737
|
0.00001
|
NM_000091.5(COL4A3):c.235-9T>C
|
rs1217151399
|
0.00001
|
NM_000091.5(COL4A3):c.2371C>T (p.Arg791Ter)
|
rs1060499654
|
0.00001
|
NM_000091.5(COL4A3):c.2374+7T>C
|
rs1439996204
|
0.00001
|
NM_000091.5(COL4A3):c.2375-6T>C
|
rs781169141
|
0.00001
|
NM_000091.5(COL4A3):c.2452G>A (p.Gly818Arg)
|
rs868002181
|
0.00001
|
NM_000091.5(COL4A3):c.2488_2488+2del
|
rs1363058249
|
0.00001
|
NM_000091.5(COL4A3):c.2489-5C>T
|
rs1351916467
|
0.00001
|
NM_000091.5(COL4A3):c.250C>A (p.Pro84Thr)
|
rs572059687
|
0.00001
|
NM_000091.5(COL4A3):c.2531C>T (p.Pro844Leu)
|
rs1385197225
|
0.00001
|
NM_000091.5(COL4A3):c.2532A>G (p.Pro844=)
|
rs764864727
|
0.00001
|
NM_000091.5(COL4A3):c.2656+12T>A
|
rs748254625
|
0.00001
|
NM_000091.5(COL4A3):c.2700T>C (p.Ile900=)
|
rs949063273
|
0.00001
|
NM_000091.5(COL4A3):c.2712G>A (p.Gly904=)
|
rs781672496
|
0.00001
|
NM_000091.5(COL4A3):c.272G>A (p.Gly91Asp)
|
rs1414411811
|
0.00001
|
NM_000091.5(COL4A3):c.2730C>A (p.Gly910=)
|
rs768193529
|
0.00001
|
NM_000091.5(COL4A3):c.2746+17C>T
|
rs765408537
|
0.00001
|
NM_000091.5(COL4A3):c.2747-1G>C
|
rs1196996393
|
0.00001
|
NM_000091.5(COL4A3):c.2750G>A (p.Ser917Asn)
|
rs773119622
|
0.00001
|
NM_000091.5(COL4A3):c.2799G>A (p.Lys933=)
|
rs762954155
|
0.00001
|
NM_000091.5(COL4A3):c.2800G>A (p.Gly934Arg)
|
rs199956740
|
0.00001
|
NM_000091.5(COL4A3):c.281G>C (p.Gly94Ala)
|
rs780287240
|
0.00001
|
NM_000091.5(COL4A3):c.2827G>A (p.Gly943Arg)
|
rs1265432530
|
0.00001
|
NM_000091.5(COL4A3):c.2943G>A (p.Lys981=)
|
rs770660795
|
0.00001
|
NM_000091.5(COL4A3):c.2962G>A (p.Gly988Arg)
|
rs769683665
|
0.00001
|
NM_000091.5(COL4A3):c.2980+7C>A
|
rs1248227284
|
0.00001
|
NM_000091.5(COL4A3):c.3109C>T (p.Arg1037Ter)
|
rs766900945
|
0.00001
|
NM_000091.5(COL4A3):c.315T>C (p.Pro105=)
|
rs371460434
|
0.00001
|
NM_000091.5(COL4A3):c.3183T>C (p.Gly1061=)
|
rs373695524
|
0.00001
|
NM_000091.5(COL4A3):c.3183T>G (p.Gly1061=)
|
rs373695524
|
0.00001
|
NM_000091.5(COL4A3):c.3210+1G>A
|
rs1553762314
|
0.00001
|
NM_000091.5(COL4A3):c.3210+8G>A
|
rs545181831
|
0.00001
|
NM_000091.5(COL4A3):c.3211-4T>A
|
rs759060177
|
0.00001
|
NM_000091.5(COL4A3):c.324+10G>A
|
rs574132769
|
0.00001
|
NM_000091.5(COL4A3):c.324+9T>G
|
rs904160606
|
0.00001
|
NM_000091.5(COL4A3):c.325-10del
|
rs1417700757
|
0.00001
|
NM_000091.5(COL4A3):c.3250G>T (p.Glu1084Ter)
|
rs1192750535
|
0.00001
|
NM_000091.5(COL4A3):c.3252A>T (p.Glu1084Asp)
|
rs766420056
|
0.00001
|
NM_000091.5(COL4A3):c.3254T>G (p.Met1085Arg)
|
rs769395979
|
0.00001
|
NM_000091.5(COL4A3):c.3264T>G (p.Pro1088=)
|
rs770449474
|
0.00001
|
NM_000091.5(COL4A3):c.3279T>C (p.His1093=)
|
rs542523057
|
0.00001
|
NM_000091.5(COL4A3):c.3337+10G>C
|
rs752108075
|
0.00001
|
NM_000091.5(COL4A3):c.3337+15T>C
|
rs1230244758
|
0.00001
|
NM_000091.5(COL4A3):c.3337+8T>C
|
rs371806850
|
0.00001
|
NM_000091.5(COL4A3):c.3338-7T>C
|
rs1429135743
|
0.00001
|
NM_000091.5(COL4A3):c.3354T>C (p.His1118=)
|
rs1435651752
|
0.00001
|
NM_000091.5(COL4A3):c.3387C>T (p.Leu1129=)
|
rs1173229912
|
0.00001
|
NM_000091.5(COL4A3):c.3390G>T (p.Leu1130=)
|
rs1321343652
|
0.00001
|
NM_000091.5(COL4A3):c.3419-4T>C
|
rs778713428
|
0.00001
|
NM_000091.5(COL4A3):c.343G>A (p.Gly115Arg)
|
rs202147112
|
0.00001
|
NM_000091.5(COL4A3):c.3472G>C (p.Gly1158Arg)
|
rs914878176
|
0.00001
|
NM_000091.5(COL4A3):c.3480T>C (p.Asp1160=)
|
rs766927075
|
0.00001
|
NM_000091.5(COL4A3):c.3498C>T (p.Ala1166=)
|
rs754567461
|
0.00001
|
NM_000091.5(COL4A3):c.3499G>A (p.Gly1167Arg)
|
rs267606745
|
0.00001
|
NM_000091.5(COL4A3):c.3516G>A (p.Thr1172=)
|
rs758035504
|
0.00001
|
NM_000091.5(COL4A3):c.351C>T (p.Tyr117=)
|
rs750308686
|
0.00001
|
NM_000091.5(COL4A3):c.352G>A (p.Gly118Arg)
|
rs1293137291
|
0.00001
|
NM_000091.5(COL4A3):c.3565+8G>A
|
rs1372066865
|
0.00001
|
NM_000091.5(COL4A3):c.3582G>T (p.Arg1194Ser)
|
rs761347389
|
0.00001
|
NM_000091.5(COL4A3):c.3593G>A (p.Gly1198Asp)
|
rs755849032
|
0.00001
|
NM_000091.5(COL4A3):c.361G>A (p.Gly121Ser)
|
rs778886174
|
0.00001
|
NM_000091.5(COL4A3):c.3624C>A (p.Ala1208=)
|
rs771276828
|
0.00001
|
NM_000091.5(COL4A3):c.3683G>T (p.Gly1228Val)
|
rs1183958961
|
0.00001
|
NM_000091.5(COL4A3):c.3690C>T (p.Pro1230=)
|
rs375442737
|
0.00001
|
NM_000091.5(COL4A3):c.3751+1G>A
|
rs781566652
|
0.00001
|
NM_000091.5(COL4A3):c.3764C>A (p.Pro1255His)
|
rs759579368
|
0.00001
|
NM_000091.5(COL4A3):c.3786T>C (p.His1262=)
|
rs768991487
|
0.00001
|
NM_000091.5(COL4A3):c.3813G>A (p.Gly1271=)
|
rs779320182
|
0.00001
|
NM_000091.5(COL4A3):c.3816T>C (p.Ser1272=)
|
rs376887131
|
0.00001
|
NM_000091.5(COL4A3):c.3820G>A (p.Gly1274Ser)
|
rs1559914789
|
0.00001
|
NM_000091.5(COL4A3):c.388-15T>C
|
rs762513527
|
0.00001
|
NM_000091.5(COL4A3):c.3903T>A (p.Gly1301=)
|
rs377082797
|
0.00001
|
NM_000091.5(COL4A3):c.3963G>A (p.Lys1321=)
|
rs776772531
|
0.00001
|
NM_000091.5(COL4A3):c.3999A>G (p.Pro1333=)
|
rs1385138582
|
0.00001
|
NM_000091.5(COL4A3):c.4001G>A (p.Gly1334Glu)
|
rs375290088
|
0.00001
|
NM_000091.5(COL4A3):c.4028-9T>C
|
rs1027193239
|
0.00001
|
NM_000091.5(COL4A3):c.4065C>T (p.Ser1355=)
|
rs754674051
|
0.00001
|
NM_000091.5(COL4A3):c.4077C>T (p.Ser1359=)
|
rs1413538603
|
0.00001
|
NM_000091.5(COL4A3):c.4100G>C (p.Gly1367Ala)
|
rs886055742
|
0.00001
|
NM_000091.5(COL4A3):c.4110G>A (p.Gly1370=)
|
rs758065359
|
0.00001
|
NM_000091.5(COL4A3):c.4153+10T>C
|
rs865866667
|
0.00001
|
NM_000091.5(COL4A3):c.4154-14T>C
|
rs567597811
|
0.00001
|
NM_000091.5(COL4A3):c.4154-4C>A
|
rs764952038
|
0.00001
|
NM_000091.5(COL4A3):c.4154-8T>C
|
rs150560755
|
0.00001
|
NM_000091.5(COL4A3):c.4155A>T (p.Gly1385=)
|
rs769781676
|
0.00001
|
NM_000091.5(COL4A3):c.4188T>C (p.Asp1396=)
|
rs757177599
|
0.00001
|
NM_000091.5(COL4A3):c.4236T>C (p.Gly1412=)
|
rs1207621078
|
0.00001
|
NM_000091.5(COL4A3):c.4253-19T>C
|
rs374808546
|
0.00001
|
NM_000091.5(COL4A3):c.4254A>G (p.Gly1418=)
|
rs746341701
|
0.00001
|
NM_000091.5(COL4A3):c.4329G>A (p.Thr1443=)
|
rs778174094
|
0.00001
|
NM_000091.5(COL4A3):c.4348C>T (p.Arg1450Ter)
|
rs1189607438
|
0.00001
|
NM_000091.5(COL4A3):c.4351C>G (p.His1451Asp)
|
rs1291948462
|
0.00001
|
NM_000091.5(COL4A3):c.4389G>A (p.Gly1463=)
|
rs766233297
|
0.00001
|
NM_000091.5(COL4A3):c.441G>A (p.Pro147=)
|
rs373559251
|
0.00001
|
NM_000091.5(COL4A3):c.443G>T (p.Gly148Val)
|
rs775373641
|
0.00001
|
NM_000091.5(COL4A3):c.4467T>C (p.Thr1489=)
|
rs777316007
|
0.00001
|
NM_000091.5(COL4A3):c.4486C>T (p.Arg1496Ter)
|
rs769863513
|
0.00001
|
NM_000091.5(COL4A3):c.4578A>C (p.Pro1526=)
|
rs1309123639
|
0.00001
|
NM_000091.5(COL4A3):c.4632T>C (p.Tyr1544=)
|
rs769668493
|
0.00001
|
NM_000091.5(COL4A3):c.4641-4A>G
|
rs566368802
|
0.00001
|
NM_000091.5(COL4A3):c.4643G>A (p.Cys1548Tyr)
|
rs745466617
|
0.00001
|
NM_000091.5(COL4A3):c.4663G>A (p.Ala1555Thr)
|
rs774089446
|
0.00001
|
NM_000091.5(COL4A3):c.4668C>T (p.Ile1556=)
|
rs537964396
|
0.00001
|
NM_000091.5(COL4A3):c.468+18T>C
|
rs2069428690
|
0.00001
|
NM_000091.5(COL4A3):c.469-4C>A
|
rs758949595
|
0.00001
|
NM_000091.5(COL4A3):c.4755+1G>A
|
rs1346132592
|
0.00001
|
NM_000091.5(COL4A3):c.4756-8T>C
|
rs1460454849
|
0.00001
|
NM_000091.5(COL4A3):c.4758C>T (p.Phe1586=)
|
rs539022894
|
0.00001
|
NM_000091.5(COL4A3):c.4770T>C (p.Gly1590=)
|
rs1210443645
|
0.00001
|
NM_000091.5(COL4A3):c.4781C>T (p.Thr1594Ile)
|
rs760284809
|
0.00001
|
NM_000091.5(COL4A3):c.4782C>T (p.Thr1594=)
|
rs765966283
|
0.00001
|
NM_000091.5(COL4A3):c.4783G>A (p.Gly1595Arg)
|
rs766208466
|
0.00001
|
NM_000091.5(COL4A3):c.4793T>G (p.Leu1598Arg)
|
rs752452590
|
0.00001
|
NM_000091.5(COL4A3):c.4812C>T (p.Cys1604=)
|
rs1064796314
|
0.00001
|
NM_000091.5(COL4A3):c.4840C>T (p.Leu1614=)
|
rs755140565
|
0.00001
|
NM_000091.5(COL4A3):c.4851T>C (p.His1617=)
|
rs74379096
|
0.00001
|
NM_000091.5(COL4A3):c.4863G>A (p.Thr1621=)
|
rs960060481
|
0.00001
|
NM_000091.5(COL4A3):c.4982G>A (p.Arg1661His)
|
rs374158562
|
0.00001
|
NM_000091.5(COL4A3):c.4996A>G (p.Met1666Val)
|
rs759583948
|
0.00001
|
NM_000091.5(COL4A3):c.504T>C (p.Asp168=)
|
rs748974369
|
0.00001
|
NM_000091.5(COL4A3):c.519C>T (p.Pro173=)
|
rs1210087068
|
0.00001
|
NM_000091.5(COL4A3):c.520G>A (p.Gly174Arg)
|
rs1014839148
|
0.00001
|
NM_000091.5(COL4A3):c.527C>G (p.Pro176Arg)
|
rs759869958
|
0.00001
|
NM_000091.5(COL4A3):c.547-7T>C
|
rs770199647
|
0.00001
|
NM_000091.5(COL4A3):c.548G>T (p.Gly183Val)
|
rs775544184
|
0.00001
|
NM_000091.5(COL4A3):c.585C>T (p.Gly195=)
|
rs1010027903
|
0.00001
|
NM_000091.5(COL4A3):c.587C>T (p.Pro196Leu)
|
rs2069719935
|
0.00001
|
NM_000091.5(COL4A3):c.646-7C>T
|
rs749329223
|
0.00001
|
NM_000091.5(COL4A3):c.684G>A (p.Glu228=)
|
rs776020464
|
0.00001
|
NM_000091.5(COL4A3):c.708A>G (p.Gly236=)
|
rs1216693546
|
0.00001
|
NM_000091.5(COL4A3):c.735T>C (p.Ile245=)
|
rs2069934784
|
0.00001
|
NM_000091.5(COL4A3):c.741C>G (p.Thr247=)
|
rs199887536
|
0.00001
|
NM_000091.5(COL4A3):c.764C>T (p.Thr255Met)
|
rs573527081
|
0.00001
|
NM_000091.5(COL4A3):c.765G>A (p.Thr255=)
|
rs869025328
|
0.00001
|
NM_000091.5(COL4A3):c.768C>T (p.Asp256=)
|
rs966583523
|
0.00001
|
NM_000091.5(COL4A3):c.782A>G (p.Lys261Arg)
|
rs769837137
|
0.00001
|
NM_000091.5(COL4A3):c.803G>A (p.Gly268Asp)
|
rs1448108531
|
0.00001
|
NM_000091.5(COL4A3):c.828+10T>G
|
rs1274251603
|
0.00001
|
NM_000091.5(COL4A3):c.828+18A>C
|
rs765813832
|
0.00001
|
NM_000091.5(COL4A3):c.828+9T>C
|
rs2069991819
|
0.00001
|
NM_000091.5(COL4A3):c.846A>T (p.Ser282=)
|
rs916226337
|
0.00001
|
NM_000091.5(COL4A3):c.88-10C>G
|
rs780318351
|
0.00001
|
NM_000091.5(COL4A3):c.889-9T>C
|
rs374163622
|
0.00001
|
NM_000091.5(COL4A3):c.90T>C (p.Gly30=)
|
rs988459674
|
0.00001
|
NM_000091.5(COL4A3):c.933+9T>C
|
rs752703682
|
0.00001
|
NM_000091.5(COL4A3):c.934-5T>C
|
rs376068797
|
0.00001
|
NM_000091.5(COL4A3):c.942G>A (p.Lys314=)
|
rs762999258
|
0.00001
|
NM_000091.5(COL4A3):c.949_950del (p.Arg317fs)
|
rs756133651
|
0.00001
|
NC_000002.12:g.227253562dup
|
|
|
NC_000002.12:g.227256027del
|
rs2125940514
|
|
NC_000002.12:g.227280441del
|
rs2106151385
|
|
NM_000091.5(COL4A3):c.1005T>C (p.Ile335=)
|
|
|
NM_000091.5(COL4A3):c.1006G>A (p.Gly336Ser)
|
|
|
NM_000091.5(COL4A3):c.1006G>T (p.Gly336Cys)
|
rs1559873550
|
|
NM_000091.5(COL4A3):c.1029+171G>A
|
rs187905114
|
|
NM_000091.5(COL4A3):c.1029+20A>G
|
|
|
NM_000091.5(COL4A3):c.1029+2T>G
|
rs2125947143
|
|
NM_000091.5(COL4A3):c.1029+9G>A
|
|
|
NM_000091.5(COL4A3):c.1029A>C (p.Pro343=)
|
|
|
NM_000091.5(COL4A3):c.1030-10C>T
|
rs1206649395
|
|
NM_000091.5(COL4A3):c.1030-13T>G
|
|
|
NM_000091.5(COL4A3):c.1030-6T>A
|
|
|
NM_000091.5(COL4A3):c.1030-8C>T
|
rs1251940156
|
|
NM_000091.5(COL4A3):c.1030-9T>C
|
|
|
NM_000091.5(COL4A3):c.1030-9T>G
|
|
|
NM_000091.5(COL4A3):c.1030A>T (p.Thr344Ser)
|
|
|
NM_000091.5(COL4A3):c.1032A>G (p.Thr344=)
|
rs1574717037
|
|
NM_000091.5(COL4A3):c.1033G>T (p.Glu345Ter)
|
rs760561462
|
|
NM_000091.5(COL4A3):c.1034A>T (p.Glu345Val)
|
rs951964916
|
|
NM_000091.5(COL4A3):c.1037_1038del (p.Tyr346fs)
|
|
|
NM_000091.5(COL4A3):c.1041T>C (p.Tyr347=)
|
|
|
NM_000091.5(COL4A3):c.1044C>T (p.Asp348=)
|
|
|
NM_000091.5(COL4A3):c.1054G>T (p.Glu352Ter)
|
rs937387158
|
|
NM_000091.5(COL4A3):c.1059G>A (p.Lys353=)
|
|
|
NM_000091.5(COL4A3):c.1077_1081dup (p.Pro361fs)
|
rs2125956496
|
|
NM_000091.5(COL4A3):c.1087G>A (p.Gly363Arg)
|
rs1559875465
|
|
NM_000091.5(COL4A3):c.1092C>T (p.Pro364=)
|
|
|
NM_000091.5(COL4A3):c.1095A>G (p.Arg365=)
|
rs1360370407
|
|
NM_000091.5(COL4A3):c.1098A>G (p.Gly366=)
|
rs754725525
|
|
NM_000091.5(COL4A3):c.1099G>T (p.Ala367Ser)
|
|
|
NM_000091.5(COL4A3):c.1102C>T (p.Arg368Cys)
|
|
|
NM_000091.5(COL4A3):c.1103G>A (p.Arg368His)
|
|
|
NM_000091.5(COL4A3):c.1107C>T (p.Gly369=)
|
rs2125956708
|
|
NM_000091.5(COL4A3):c.1109del (p.Pro370fs)
|
|
|
NM_000091.5(COL4A3):c.1110A>T (p.Pro370=)
|
rs2125956719
|
|
NM_000091.5(COL4A3):c.1111C>T (p.Gln371Ter)
|
rs2125956727
|
|
NM_000091.5(COL4A3):c.1113del (p.Gly372fs)
|
rs2070436374
|
|
NM_000091.5(COL4A3):c.1114+12T>C
|
|
|
NM_000091.5(COL4A3):c.1114+15C>T
|
|
|
NM_000091.5(COL4A3):c.1114+1G>A
|
rs1286895614
|
|
NM_000091.5(COL4A3):c.1114+1G>T
|
|
|
NM_000091.5(COL4A3):c.1114+20T>C
|
|
|
NM_000091.5(COL4A3):c.1114+20T>G
|
|
|
NM_000091.5(COL4A3):c.1114+2T>C
|
rs956551930
|
|
NM_000091.5(COL4A3):c.1114+8T>C
|
|
|
NM_000091.5(COL4A3):c.1114+8T>G
|
|
|
NM_000091.5(COL4A3):c.1114G>A (p.Gly372Ser)
|
rs1275209481
|
|
NM_000091.5(COL4A3):c.1115-10A>G
|
rs2125961733
|
|
NM_000091.5(COL4A3):c.1115-11T>C
|
|
|
NM_000091.5(COL4A3):c.1115-15G>C
|
|
|
NM_000091.5(COL4A3):c.1115-211C>G
|
rs77280016
|
|
NM_000091.5(COL4A3):c.1115-3dup
|
rs777162751
|
|
NM_000091.5(COL4A3):c.1115-48C>T
|
rs145145551
|
|
NM_000091.5(COL4A3):c.1115-5C>G
|
rs754325947
|
|
NM_000091.5(COL4A3):c.1115-7T>C
|
rs1574720669
|
|
NM_000091.5(COL4A3):c.1131C>A (p.Pro377=)
|
|
|
NM_000091.5(COL4A3):c.1131del (p.Gly378fs)
|
rs2125961866
|
|
NM_000091.5(COL4A3):c.1132G>A (p.Gly378Arg)
|
rs2125961933
|
|
NM_000091.5(COL4A3):c.1134A>G (p.Gly378=)
|
rs752145071
|
|
NM_000091.5(COL4A3):c.1137T>C (p.Val379=)
|
|
|
NM_000091.5(COL4A3):c.1141G>C (p.Gly381Arg)
|
rs1559876538
|
|
NM_000091.5(COL4A3):c.1150+14T>C
|
|
|
NM_000091.5(COL4A3):c.1150+16T>G
|
|
|
NM_000091.5(COL4A3):c.1150+279G>A
|
rs55918117
|
|
NM_000091.5(COL4A3):c.1150+302C>T
|
rs55711929
|
|
NM_000091.5(COL4A3):c.1150+5G>A
|
|
|
NM_000091.5(COL4A3):c.1151-17T>A
|
|
|
NM_000091.5(COL4A3):c.1151-5C>T
|
rs2125972236
|
|
NM_000091.5(COL4A3):c.1151-9T>G
|
rs2125972208
|
|
NM_000091.5(COL4A3):c.1156T>C (p.Ser386Pro)
|
|
|
NM_000091.5(COL4A3):c.1156_1171del (p.Ser386fs)
|
rs2125972268
|
|
NM_000091.5(COL4A3):c.1166G>C (p.Gly389Ala)
|
|
|
NM_000091.5(COL4A3):c.1167C>G (p.Gly389=)
|
rs2070734491
|
|
NM_000091.5(COL4A3):c.1174G>A (p.Gly392Arg)
|
rs2070734616
|
|
NM_000091.5(COL4A3):c.1180_1199del (p.Pro394fs)
|
rs2125972390
|
|
NM_000091.5(COL4A3):c.1183G>A (p.Gly395Arg)
|
rs1574727988
|
|
NM_000091.5(COL4A3):c.1184G>A (p.Gly395Glu)
|
rs1131691738
|
|
NM_000091.5(COL4A3):c.1193G>A (p.Gly398Asp)
|
rs2070735812
|
|
NM_000091.5(COL4A3):c.1197G>A (p.Leu399=)
|
|
|
NM_000091.5(COL4A3):c.1201G>A (p.Gly401Arg)
|
rs1559878824
|
|
NM_000091.5(COL4A3):c.1203A>G (p.Gly401=)
|
rs2125972532
|
|
NM_000091.5(COL4A3):c.1206_1210del (p.Ser402fs)
|
|
|
NM_000091.5(COL4A3):c.120C>T (p.Phe40=)
|
|
|
NM_000091.5(COL4A3):c.1212G>A (p.Gly404=)
|
|
|
NM_000091.5(COL4A3):c.1213G>T (p.Glu405Ter)
|
rs2070736908
|
|
NM_000091.5(COL4A3):c.1213_1214del (p.Glu405fs)
|
|
|
NM_000091.5(COL4A3):c.1216C>A (p.Arg406=)
|
rs371334239
|
|
NM_000091.5(COL4A3):c.1217G>A (p.Arg406Gln)
|
|
|
NM_000091.5(COL4A3):c.1219G>C (p.Gly407Arg)
|
rs1559878862
|
|
NM_000091.5(COL4A3):c.1221C>A (p.Gly407=)
|
|
|
NM_000091.5(COL4A3):c.1222C>T (p.Arg408Cys)
|
|
|
NM_000091.5(COL4A3):c.1227A>C (p.Pro409=)
|
|
|
NM_000091.5(COL4A3):c.1229G>A (p.Gly410Glu)
|
rs1350342816
|
|
NM_000091.5(COL4A3):c.1230A>G (p.Gly410=)
|
|
|
NM_000091.5(COL4A3):c.1245G>A (p.Gly415=)
|
rs2125972720
|
|
NM_000091.5(COL4A3):c.1252G>A (p.Gly418Arg)
|
|
|
NM_000091.5(COL4A3):c.1253G>A (p.Gly418Glu)
|
|
|
NM_000091.5(COL4A3):c.1262del (p.Gly421fs)
|
rs2125972772
|
|
NM_000091.5(COL4A3):c.1274C>A (p.Ser425Ter)
|
|
|
NM_000091.5(COL4A3):c.127G>A (p.Gly43Arg)
|
|
|
NM_000091.5(COL4A3):c.127G>C (p.Gly43Arg)
|
rs13424243
|
|
NM_000091.5(COL4A3):c.1286del (p.Pro429fs)
|
rs2125972883
|
|
NM_000091.5(COL4A3):c.1287A>G (p.Pro429=)
|
|
|
NM_000091.5(COL4A3):c.1307G>A (p.Gly436Glu)
|
|
|
NM_000091.5(COL4A3):c.1307G>C (p.Gly436Ala)
|
|
|
NM_000091.5(COL4A3):c.1308A>G (p.Gly436=)
|
|
|
NM_000091.5(COL4A3):c.1311G>A (p.Pro437=)
|
rs369557944
|
|
NM_000091.5(COL4A3):c.1311G>C (p.Pro437=)
|
rs369557944
|
|
NM_000091.5(COL4A3):c.1311G>T (p.Pro437=)
|
rs369557944
|
|
NM_000091.5(COL4A3):c.1315+13A>G
|
|
|
NM_000091.5(COL4A3):c.1315+16G>A
|
|
|
NM_000091.5(COL4A3):c.1315+18G>A
|
|
|
NM_000091.5(COL4A3):c.1315+205C>T
|
rs4396710
|
|
NM_000091.5(COL4A3):c.1315+8_1315+13del
|
|
|
NM_000091.5(COL4A3):c.1315G>A (p.Gly439Ser)
|
rs1553755124
|
|
NM_000091.5(COL4A3):c.1316-10A>C
|
|
|
NM_000091.5(COL4A3):c.1316-10_1316-7del
|
rs1455900250
|
|
NM_000091.5(COL4A3):c.1316-14_1316-12del
|
|
|
NM_000091.5(COL4A3):c.1316-15G>A
|
rs902971451
|
|
NM_000091.5(COL4A3):c.1316-19T>C
|
|
|
NM_000091.5(COL4A3):c.1316-227del
|
rs66686669
|
|
NM_000091.5(COL4A3):c.1316-3T>C
|
|
|
NM_000091.5(COL4A3):c.1316-6T>G
|
|
|
NM_000091.5(COL4A3):c.1316-7_1316-5dup
|
rs2125980936
|
|
NM_000091.5(COL4A3):c.1316-9T>C
|
rs2070892591
|
|
NM_000091.5(COL4A3):c.1323C>A (p.Ile441=)
|
rs73080086
|
|
NM_000091.5(COL4A3):c.1323C>T (p.Ile441=)
|
rs73080086
|
|
NM_000091.5(COL4A3):c.1325T>C (p.Val442Ala)
|
rs2125981003
|
|
NM_000091.5(COL4A3):c.1330C>T (p.Arg444Cys)
|
|
|
NM_000091.5(COL4A3):c.1331G>A (p.Arg444His)
|
|
|
NM_000091.5(COL4A3):c.133A>T (p.Lys45Ter)
|
|
|
NM_000091.5(COL4A3):c.1341A>C (p.Pro447=)
|
|
|
NM_000091.5(COL4A3):c.1345G>C (p.Gly449Arg)
|
|
|
NM_000091.5(COL4A3):c.1347A>G (p.Gly449=)
|
|
|
NM_000091.5(COL4A3):c.1350T>A (p.Asp450Glu)
|
rs2125981065
|
|
NM_000091.5(COL4A3):c.1350_1352delinsACG (p.Asp450_His451delinsGluArg)
|
rs1559881247
|
|
NM_000091.5(COL4A3):c.1352_1353inv (p.His451Arg)
|
|
|
NM_000091.5(COL4A3):c.1354G>A (p.Gly452Arg)
|
rs772958162
|
|
NM_000091.5(COL4A3):c.135A>G (p.Lys45=)
|
rs2068793819
|
|
NM_000091.5(COL4A3):c.1361C>A (p.Pro454Gln)
|
|
|
NM_000091.5(COL4A3):c.1364G>T (p.Gly455Val)
|
|
|
NM_000091.5(COL4A3):c.1368T>C (p.Tyr456=)
|
rs766591906
|
|
NM_000091.5(COL4A3):c.1373G>A (p.Gly458Glu)
|
rs2125981183
|
|
NM_000091.5(COL4A3):c.1374G>A (p.Gly458=)
|
rs2125981189
|
|
NM_000091.5(COL4A3):c.1381G>C (p.Gly461Arg)
|
rs1135401954
|
|
NM_000091.5(COL4A3):c.138G>C (p.Gly46=)
|
rs2125884162
|
|
NM_000091.5(COL4A3):c.1391G>A (p.Gly464Glu)
|
rs2125981235
|
|
NM_000091.5(COL4A3):c.1391G>T (p.Gly464Val)
|
|
|
NM_000091.5(COL4A3):c.1393G>A (p.Val465Ile)
|
|
|
NM_000091.5(COL4A3):c.1395T>G (p.Val465=)
|
rs2125981246
|
|
NM_000091.5(COL4A3):c.1401G>A (p.Gly467=)
|
rs930082598
|
|
NM_000091.5(COL4A3):c.1407del (p.Gly470fs)
|
rs766025194
|
|
NM_000091.5(COL4A3):c.1408+16A>G
|
|
|
NM_000091.5(COL4A3):c.1408+17A>C
|
|
|
NM_000091.5(COL4A3):c.1408+18T>C
|
|
|
NM_000091.5(COL4A3):c.1408+1G>A
|
rs1185847791
|
|
NM_000091.5(COL4A3):c.1408+1G>C
|
|
|
NM_000091.5(COL4A3):c.1408+20T>C
|
|
|
NM_000091.5(COL4A3):c.1408+9A>G
|
rs749644624
|
|
NM_000091.5(COL4A3):c.1409-11T>A
|
|
|
NM_000091.5(COL4A3):c.1409-15A>G
|
|
|
NM_000091.5(COL4A3):c.1409-20C>A
|
|
|
NM_000091.5(COL4A3):c.1409-3C>T
|
rs756390955
|
|
NM_000091.5(COL4A3):c.1409-4G>A
|
|
|
NM_000091.5(COL4A3):c.1409-7A>T
|
rs2125982361
|
|
NM_000091.5(COL4A3):c.1409G>A (p.Gly470Glu)
|
rs2125982395
|
|
NM_000091.5(COL4A3):c.140A>G (p.Glu47Gly)
|
|
|
NM_000091.5(COL4A3):c.1413A>G (p.Glu471=)
|
|
|
NM_000091.5(COL4A3):c.1418G>A (p.Gly473Asp)
|
|
|
NM_000091.5(COL4A3):c.141G>A (p.Glu47=)
|
rs2125884194
|
|
NM_000091.5(COL4A3):c.1422C>G (p.Leu474=)
|
|
|
NM_000091.5(COL4A3):c.1424T>C (p.Leu475Pro)
|
|
|
NM_000091.5(COL4A3):c.144+10A>C
|
rs2125884265
|
|
NM_000091.5(COL4A3):c.144+11dup
|
|
|
NM_000091.5(COL4A3):c.144+14del
|
|
|
NM_000091.5(COL4A3):c.144+165del
|
rs35499269
|
|
NM_000091.5(COL4A3):c.144+165dup
|
rs35499269
|
|
NM_000091.5(COL4A3):c.144+16A>T
|
|
|
NM_000091.5(COL4A3):c.144+1G>C
|
|
|
NM_000091.5(COL4A3):c.144+7del
|
rs2125884236
|
|
NM_000091.5(COL4A3):c.144+9A>G
|
|
|
NM_000091.5(COL4A3):c.1443T>A (p.Tyr481Ter)
|
rs2070938396
|
|
NM_000091.5(COL4A3):c.1447C>T (p.Pro483Ser)
|
|
|
NM_000091.5(COL4A3):c.145-13T>G
|
|
|
NM_000091.5(COL4A3):c.145-17C>T
|
|
|
NM_000091.5(COL4A3):c.145-2A>G
|
|
|
NM_000091.5(COL4A3):c.1459G>T (p.Gly487Cys)
|
rs745472969
|
|
NM_000091.5(COL4A3):c.145G>C (p.Gly49Arg)
|
|
|
NM_000091.5(COL4A3):c.1461T>G (p.Gly487=)
|
|
|
NM_000091.5(COL4A3):c.1471T>C (p.Leu491=)
|
|
|
NM_000091.5(COL4A3):c.1479G>A (p.Gly493=)
|
rs2125982596
|
|
NM_000091.5(COL4A3):c.1479G>T (p.Gly493=)
|
|
|
NM_000091.5(COL4A3):c.1485T>C (p.His495=)
|
|
|
NM_000091.5(COL4A3):c.1488T>C (p.Gly496=)
|
|
|
NM_000091.5(COL4A3):c.1500C>A (p.Ile500=)
|
rs2125982662
|
|
NM_000091.5(COL4A3):c.1504+108C>A
|
rs10933174
|
|
NM_000091.5(COL4A3):c.1504+10del
|
|
|
NM_000091.5(COL4A3):c.1504+16A>C
|
|
|
NM_000091.5(COL4A3):c.1504+17T>C
|
|
|
NM_000091.5(COL4A3):c.1504+17T>G
|
|
|
NM_000091.5(COL4A3):c.1504+1G>A
|
rs1559882199
|
|
NM_000091.5(COL4A3):c.1504+9A>T
|
|
|
NM_000091.5(COL4A3):c.1505-13C>T
|
|
|
NM_000091.5(COL4A3):c.1505-13del
|
|
|
NM_000091.5(COL4A3):c.1505-15T>C
|
|
|
NM_000091.5(COL4A3):c.150G>A (p.Glu50=)
|
|
|
NM_000091.5(COL4A3):c.1515C>A (p.Gly505=)
|
|
|
NM_000091.5(COL4A3):c.1515C>G (p.Gly505=)
|
|
|
NM_000091.5(COL4A3):c.1527G>C (p.Leu509Phe)
|
rs2125989308
|
|
NM_000091.5(COL4A3):c.1530A>G (p.Lys510=)
|
|
|
NM_000091.5(COL4A3):c.1540G>A (p.Gly514Arg)
|
rs2071142257
|
|
NM_000091.5(COL4A3):c.1559G>A (p.Gly520Asp)
|
rs1574745989
|
|
NM_000091.5(COL4A3):c.1566A>G (p.Pro522=)
|
rs2071143686
|
|
NM_000091.5(COL4A3):c.1575+11A>T
|
|
|
NM_000091.5(COL4A3):c.1575+11_1575+12insAA
|
|
|
NM_000091.5(COL4A3):c.1575+12T>A
|
|
|
NM_000091.5(COL4A3):c.1575+12T>C
|
|
|
NM_000091.5(COL4A3):c.1575+14T>C
|
|
|
NM_000091.5(COL4A3):c.1575+8T>G
|
|
|
NM_000091.5(COL4A3):c.1575+9_1575+12del
|
|
|
NM_000091.5(COL4A3):c.1576-11T>C
|
|
|
NM_000091.5(COL4A3):c.1576-12G>A
|
|
|
NM_000091.5(COL4A3):c.1576-14G>T
|
|
|
NM_000091.5(COL4A3):c.1576-2A>C
|
rs1291012482
|
|
NM_000091.5(COL4A3):c.1576-4C>T
|
rs1413629125
|
|
NM_000091.5(COL4A3):c.1576-9C>G
|
|
|
NM_000091.5(COL4A3):c.1583C>T (p.Pro528Leu)
|
|
|
NM_000091.5(COL4A3):c.1591C>T (p.Gln531Ter)
|
rs2125991063
|
|
NM_000091.5(COL4A3):c.1593G>A (p.Gln531=)
|
rs2071188433
|
|
NM_000091.5(COL4A3):c.1594G>A (p.Gly532Ser)
|
rs779575469
|
|
NM_000091.5(COL4A3):c.1615G>T (p.Glu539Ter)
|
rs2071189852
|
|
NM_000091.5(COL4A3):c.161C>T (p.Pro54Leu)
|
|
|
NM_000091.5(COL4A3):c.1623T>C (p.Gly541=)
|
|
|
NM_000091.5(COL4A3):c.1632T>G (p.Leu544=)
|
|
|
NM_000091.5(COL4A3):c.1643G>T (p.Gly548Val)
|
rs2125991176
|
|
NM_000091.5(COL4A3):c.1644G>A (p.Gly548=)
|
rs1574748157
|
|
NM_000091.5(COL4A3):c.1650G>C (p.Val550=)
|
|
|
NM_000091.5(COL4A3):c.1650G>T (p.Val550=)
|
|
|
NM_000091.5(COL4A3):c.1652G>A (p.Gly551Asp)
|
|
|
NM_000091.5(COL4A3):c.1659A>G (p.Pro553=)
|
rs2125991212
|
|
NM_000091.5(COL4A3):c.165A>G (p.Gly55=)
|
|
|
NM_000091.5(COL4A3):c.1662T>C (p.Gly554=)
|
|
|
NM_000091.5(COL4A3):c.1665C>T (p.Asp555=)
|
|
|
NM_000091.5(COL4A3):c.1667C>G (p.Pro556Arg)
|
|
|
NM_000091.5(COL4A3):c.1667C>T (p.Pro556Leu)
|
|
|
NM_000091.5(COL4A3):c.1668G>T (p.Pro556=)
|
|
|
NM_000091.5(COL4A3):c.1671G>A (p.Gly557=)
|
rs1396250551
|
|
NM_000091.5(COL4A3):c.1671dup (p.Leu558fs)
|
rs2125991253
|
|
NM_000091.5(COL4A3):c.1679G>T (p.Gly560Val)
|
rs2071193842
|
|
NM_000091.5(COL4A3):c.1687G>A (p.Gly563Arg)
|
rs1553757060
|
|
NM_000091.5(COL4A3):c.1688G>A (p.Gly563Glu)
|
|
|
NM_000091.5(COL4A3):c.1689G>A (p.Gly563=)
|
|
|
NM_000091.5(COL4A3):c.1698C>T (p.Gly566=)
|
|
|
NM_000091.5(COL4A3):c.1704T>C (p.Asp568=)
|
|
|
NM_000091.5(COL4A3):c.1706G>A (p.Gly569Glu)
|
rs2071195158
|
|
NM_000091.5(COL4A3):c.170C>A (p.Pro57His)
|
|
|
NM_000091.5(COL4A3):c.170C>T (p.Pro57Leu)
|
|
|
NM_000091.5(COL4A3):c.171C>G (p.Pro57=)
|
|
|
NM_000091.5(COL4A3):c.1722G>A (p.Pro574=)
|
|
|
NM_000091.5(COL4A3):c.1726G>A (p.Val576Met)
|
|
|
NM_000091.5(COL4A3):c.1728G>A (p.Val576=)
|
|
|
NM_000091.5(COL4A3):c.1740A>C (p.Pro580=)
|
rs2125991427
|
|
NM_000091.5(COL4A3):c.174T>A (p.Gly58=)
|
rs762912391
|
|
NM_000091.5(COL4A3):c.1750G>T (p.Gly584Cys)
|
rs2125991456
|
|
NM_000091.5(COL4A3):c.1752C>A (p.Gly584=)
|
rs746928034
|
|
NM_000091.5(COL4A3):c.1752C>T (p.Gly584=)
|
|
|
NM_000091.5(COL4A3):c.1758+11A>G
|
|
|
NM_000091.5(COL4A3):c.1758+7A>G
|
|
|
NM_000091.5(COL4A3):c.1759-10G>A
|
rs2125996121
|
|
NM_000091.5(COL4A3):c.1759-10G>T
|
|
|
NM_000091.5(COL4A3):c.1759-11T>A
|
rs1433223189
|
|
NM_000091.5(COL4A3):c.1759-12C>T
|
|
|
NM_000091.5(COL4A3):c.1759-13C>A
|
|
|
NM_000091.5(COL4A3):c.1759-13C>G
|
|
|
NM_000091.5(COL4A3):c.1759-14T>G
|
|
|
NM_000091.5(COL4A3):c.1759-1G>A
|
|
|
NM_000091.5(COL4A3):c.1759-270T>G
|
rs113298134
|
|
NM_000091.5(COL4A3):c.1759-5C>T
|
rs1574753683
|
|
NM_000091.5(COL4A3):c.1759-6T>C
|
|
|
NM_000091.5(COL4A3):c.1759-7G>A
|
|
|
NM_000091.5(COL4A3):c.1778_1793del (p.Gly593fs)
|
|
|
NM_000091.5(COL4A3):c.1779G>A (p.Gly593=)
|
|
|
NM_000091.5(COL4A3):c.1792C>G (p.Pro598Ala)
|
rs2071331630
|
|
NM_000091.5(COL4A3):c.1797G>C (p.Gly599=)
|
rs938552760
|
|
NM_000091.5(COL4A3):c.1803T>A (p.Pro601=)
|
|
|
NM_000091.5(COL4A3):c.1803T>C (p.Pro601=)
|
|
|
NM_000091.5(COL4A3):c.1806C>A (p.Gly602=)
|
|
|
NM_000091.5(COL4A3):c.1809C>T (p.Ser603=)
|
|
|
NM_000091.5(COL4A3):c.1813G>T (p.Gly605Trp)
|
|
|
NM_000091.5(COL4A3):c.1831G>A (p.Gly611Arg)
|
rs1574753929
|
|
NM_000091.5(COL4A3):c.1832G>A (p.Gly611Glu)
|
rs2125996366
|
|
NM_000091.5(COL4A3):c.1845dup (p.Pro616fs)
|
|
|
NM_000091.5(COL4A3):c.184C>T (p.Gln62Ter)
|
rs2125891603
|
|
NM_000091.5(COL4A3):c.1856G>A (p.Gly619Glu)
|
rs2071336508
|
|
NM_000091.5(COL4A3):c.1857A>T (p.Gly619=)
|
rs2125996441
|
|
NM_000091.5(COL4A3):c.1861dup (p.Gln621fs)
|
rs2125996462
|
|
NM_000091.5(COL4A3):c.1863A>G (p.Gln621=)
|
rs771390525
|
|
NM_000091.5(COL4A3):c.1865G>A (p.Gly622Glu)
|
rs2125996486
|
|
NM_000091.5(COL4A3):c.1875T>A (p.Gly625=)
|
rs748004604
|
|
NM_000091.5(COL4A3):c.1881G>A (p.Gln627=)
|
rs2125996537
|
|
NM_000091.5(COL4A3):c.1883G>A (p.Gly628Asp)
|
rs2125996545
|
|
NM_000091.5(COL4A3):c.1885dup (p.Thr629fs)
|
rs2125996551
|
|
NM_000091.5(COL4A3):c.1886del (p.Thr629fs)
|
|
|
NM_000091.5(COL4A3):c.1887G>A (p.Thr629=)
|
rs201109911
|
|
NM_000091.5(COL4A3):c.1887G>T (p.Thr629=)
|
rs201109911
|
|
NM_000091.5(COL4A3):c.1891G>A (p.Gly631Arg)
|
rs2125996582
|
|
NM_000091.5(COL4A3):c.1892G>A (p.Gly631Glu)
|
rs1315862965
|
|
NM_000091.5(COL4A3):c.1892G>T (p.Gly631Val)
|
rs1315862965
|
|
NM_000091.5(COL4A3):c.1900G>T (p.Gly634Ter)
|
rs1060499696
|
|
NM_000091.5(COL4A3):c.1902A>G (p.Gly634=)
|
|
|
NM_000091.5(COL4A3):c.1908dup (p.Gly637fs)
|
rs2125996634
|
|
NM_000091.5(COL4A3):c.1909G>C (p.Gly637Arg)
|
|
|
NM_000091.5(COL4A3):c.190G>C (p.Gly64Arg)
|
rs917643323
|
|
NM_000091.5(COL4A3):c.1911A>G (p.Gly637=)
|
rs1238168545
|
|
NM_000091.5(COL4A3):c.1911A>T (p.Gly637=)
|
|
|
NM_000091.5(COL4A3):c.1914A>G (p.Pro638=)
|
|
|
NM_000091.5(COL4A3):c.1927+19del
|
|
|
NM_000091.5(COL4A3):c.1928-13A>C
|
|
|
NM_000091.5(COL4A3):c.1928-16C>T
|
rs2106124305
|
|
NM_000091.5(COL4A3):c.1928-17C>T
|
|
|
NM_000091.5(COL4A3):c.1928-1G>A
|
rs1364800683
|
|
NM_000091.5(COL4A3):c.1928-2A>G
|
|
|
NM_000091.5(COL4A3):c.1929C>A (p.Gly643=)
|
rs1574764067
|
|
NM_000091.5(COL4A3):c.1932T>C (p.Pro644=)
|
rs1469882111
|
|
NM_000091.5(COL4A3):c.1933del (p.Arg645fs)
|
rs1559890140
|
|
NM_000091.5(COL4A3):c.1935G>A (p.Arg645=)
|
|
|
NM_000091.5(COL4A3):c.1937G>A (p.Gly646Glu)
|
rs2106124459
|
|
NM_000091.5(COL4A3):c.1937dup (p.Glu647fs)
|
rs758444182
|
|
NM_000091.5(COL4A3):c.1947T>C (p.Ser649=)
|
|
|
NM_000091.5(COL4A3):c.1950T>G (p.Val650=)
|
rs2106124570
|
|
NM_000091.5(COL4A3):c.1956A>C (p.Thr652=)
|
|
|
NM_000091.5(COL4A3):c.1956_1978del (p.Pro653fs)
|
rs2071566709
|
|
NM_000091.5(COL4A3):c.1957C>A (p.Pro653Thr)
|
rs2071566860
|
|
NM_000091.5(COL4A3):c.1968C>A (p.Gly656=)
|
|
|
NM_000091.5(COL4A3):c.1969C>T (p.Pro657Ser)
|
|
|
NM_000091.5(COL4A3):c.1970C>T (p.Pro657Leu)
|
rs2106124698
|
|
NM_000091.5(COL4A3):c.1972C>G (p.Pro658Ala)
|
rs749751219
|
|
NM_000091.5(COL4A3):c.1972C>T (p.Pro658Ser)
|
rs749751219
|
|
NM_000091.5(COL4A3):c.1974A>G (p.Pro658=)
|
|
|
NM_000091.5(COL4A3):c.1976G>A (p.Gly659Glu)
|
rs2071568063
|
|
NM_000091.5(COL4A3):c.1977A>C (p.Gly659=)
|
rs1438033217
|
|
NM_000091.5(COL4A3):c.1977A>G (p.Gly659=)
|
|
|
NM_000091.5(COL4A3):c.1977A>T (p.Gly659=)
|
rs1438033217
|
|
NM_000091.5(COL4A3):c.1983A>C (p.Pro661=)
|
rs1464752882
|
|
NM_000091.5(COL4A3):c.1984G>A (p.Gly662Arg)
|
rs2106124828
|
|
NM_000091.5(COL4A3):c.1985G>A (p.Gly662Glu)
|
|
|
NM_000091.5(COL4A3):c.1989C>T (p.Pro663=)
|
|
|
NM_000091.5(COL4A3):c.1990C>T (p.Pro664Ser)
|
|
|
NM_000091.5(COL4A3):c.1991del (p.Pro664fs)
|
|
|
NM_000091.5(COL4A3):c.1995C>T (p.Gly665=)
|
|
|
NM_000091.5(COL4A3):c.2003del (p.Gly668fs)
|
rs755235783
|
|
NM_000091.5(COL4A3):c.2007C>T (p.Pro669=)
|
rs776741595
|
|
NM_000091.5(COL4A3):c.2013T>C (p.Gly671=)
|
rs1253678887
|
|
NM_000091.5(COL4A3):c.2020+12C>G
|
|
|
NM_000091.5(COL4A3):c.2020+18A>G
|
|
|
NM_000091.5(COL4A3):c.2020+1G>T
|
|
|
NM_000091.5(COL4A3):c.2021-109del
|
rs59353048
|
|
NM_000091.5(COL4A3):c.2021-110_2021-109del
|
rs59353048
|
|
NM_000091.5(COL4A3):c.2021-111_2021-109del
|
rs59353048
|
|
NM_000091.5(COL4A3):c.2021-12T>C
|
|
|
NM_000091.5(COL4A3):c.2021-15G>A
|
|
|
NM_000091.5(COL4A3):c.2021-15G>T
|
|
|
NM_000091.5(COL4A3):c.2021-17G>C
|
|
|
NM_000091.5(COL4A3):c.2021-18T>C
|
|
|
NM_000091.5(COL4A3):c.2021-3A>C
|
|
|
NM_000091.5(COL4A3):c.2021-9G>C
|
rs773021303
|
|
NM_000091.5(COL4A3):c.2022T>C (p.Gly674=)
|
|
|
NM_000091.5(COL4A3):c.2025C>T (p.Ile675=)
|
|
|
NM_000091.5(COL4A3):c.2031_2038dup (p.Gly680fs)
|
rs1553758893
|
|
NM_000091.5(COL4A3):c.2033C>A (p.Ser678Tyr)
|
rs1354756195
|
|
NM_000091.5(COL4A3):c.2034C>G (p.Ser678=)
|
rs770855595
|
|
NM_000091.5(COL4A3):c.2048G>A (p.Gly683Glu)
|
rs2106132144
|
|
NM_000091.5(COL4A3):c.2065G>A (p.Gly689Arg)
|
rs1553758919
|
|
NM_000091.5(COL4A3):c.2066G>A (p.Gly689Glu)
|
rs2071652371
|
|
NM_000091.5(COL4A3):c.2067G>A (p.Gly689=)
|
rs2106132280
|
|
NM_000091.5(COL4A3):c.2070T>C (p.Pro690=)
|
|
|
NM_000091.5(COL4A3):c.2070T>G (p.Pro690=)
|
|
|
NM_000091.5(COL4A3):c.2073T>C (p.Asp691=)
|
|
|
NM_000091.5(COL4A3):c.2075G>C (p.Gly692Ala)
|
|
|
NM_000091.5(COL4A3):c.2079A>G (p.Glu693=)
|
|
|
NM_000091.5(COL4A3):c.2085A>C (p.Gly695=)
|
rs2106132462
|
|
NM_000091.5(COL4A3):c.2086del (p.Ile696fs)
|
|
|
NM_000091.5(COL4A3):c.2088T>A (p.Ile696=)
|
|
|
NM_000091.5(COL4A3):c.2091A>G (p.Pro697=)
|
|
|
NM_000091.5(COL4A3):c.2094A>T (p.Gly698=)
|
|
|
NM_000091.5(COL4A3):c.2100A>T (p.Gly700=)
|
rs2106132611
|
|
NM_000091.5(COL4A3):c.2112T>C (p.Pro704=)
|
rs2106132711
|
|
NM_000091.5(COL4A3):c.2125+12del
|
|
|
NM_000091.5(COL4A3):c.2125+20A>G
|
|
|
NM_000091.5(COL4A3):c.2125+7T>A
|
|
|
NM_000091.5(COL4A3):c.2125+8T>A
|
|
|
NM_000091.5(COL4A3):c.2126-14T>C
|
|
|
NM_000091.5(COL4A3):c.2126-18_2126-16del
|
|
|
NM_000091.5(COL4A3):c.2126-1G>A
|
rs2071831565
|
|
NM_000091.5(COL4A3):c.2126-4G>C
|
rs765596584
|
|
NM_000091.5(COL4A3):c.2126-6C>T
|
|
|
NM_000091.5(COL4A3):c.2126-8C>G
|
|
|
NM_000091.5(COL4A3):c.2126G>A (p.Gly709Glu)
|
rs1553759430
|
|
NM_000091.5(COL4A3):c.2127A>C (p.Gly709=)
|
rs1238746236
|
|
NM_000091.5(COL4A3):c.2134G>A (p.Gly712Ser)
|
|
|
NM_000091.5(COL4A3):c.2134G>C (p.Gly712Arg)
|
|
|
NM_000091.5(COL4A3):c.2139T>C (p.Phe713=)
|
rs2106146697
|
|
NM_000091.5(COL4A3):c.2142A>G (p.Pro714=)
|
|
|
NM_000091.5(COL4A3):c.2145T>C (p.Gly715=)
|
rs2106146752
|
|
NM_000091.5(COL4A3):c.2155T>C (p.Ser719Pro)
|
|
|
NM_000091.5(COL4A3):c.2156C>G (p.Ser719Ter)
|
rs1164505506
|
|
NM_000091.5(COL4A3):c.2156C>T (p.Ser719Leu)
|
|
|
NM_000091.5(COL4A3):c.2158C>T (p.Leu720=)
|
|
|
NM_000091.5(COL4A3):c.2162del (p.Gly721fs)
|
rs1399954090
|
|
NM_000091.5(COL4A3):c.2163T>C (p.Gly721=)
|
|
|
NM_000091.5(COL4A3):c.216T>C (p.Pro72=)
|
rs2125891686
|
|
NM_000091.5(COL4A3):c.2170G>A (p.Gly724Arg)
|
|
|
NM_000091.5(COL4A3):c.2176dup (p.Met726fs)
|
rs1559893935
|
|
NM_000091.5(COL4A3):c.2179G>A (p.Gly727Arg)
|
|
|
NM_000091.5(COL4A3):c.2180G>A (p.Gly727Glu)
|
rs2106147306
|
|
NM_000091.5(COL4A3):c.2184G>A (p.Glu728=)
|
rs779837475
|
|
NM_000091.5(COL4A3):c.2185C>A (p.Pro729Thr)
|
rs2071837772
|
|
NM_000091.5(COL4A3):c.2187T>C (p.Pro729=)
|
rs2106147412
|
|
NM_000091.5(COL4A3):c.2189G>A (p.Gly730Glu)
|
rs2071838155
|
|
NM_000091.5(COL4A3):c.2196T>A (p.Pro732=)
|
rs1251724413
|
|
NM_000091.5(COL4A3):c.2196T>C (p.Pro732=)
|
rs1251724413
|
|
NM_000091.5(COL4A3):c.2196T>G (p.Pro732=)
|
rs1251724413
|
|
NM_000091.5(COL4A3):c.219A>C (p.Gly73=)
|
|
|
NM_000091.5(COL4A3):c.2202G>A (p.Lys734=)
|
|
|
NM_000091.5(COL4A3):c.2203C>T (p.Pro735Ser)
|
|
|
NM_000091.5(COL4A3):c.2207G>T (p.Gly736Val)
|
rs773317939
|
|
NM_000091.5(COL4A3):c.2214A>C (p.Pro738=)
|
|
|
NM_000091.5(COL4A3):c.2215G>A (p.Gly739Arg)
|
rs375040636
|
|
NM_000091.5(COL4A3):c.2216G>A (p.Gly739Glu)
|
rs2106147774
|
|
NM_000091.5(COL4A3):c.2223+10_2223+11dup
|
|
|
NM_000091.5(COL4A3):c.2223+11dup
|
rs778293117
|
|
NM_000091.5(COL4A3):c.2223+12T>A
|
|
|
NM_000091.5(COL4A3):c.2223+12T>C
|
|
|
NM_000091.5(COL4A3):c.2223+18C>G
|
|
|
NM_000091.5(COL4A3):c.2223+1G>A
|
rs1553759476
|
|
NM_000091.5(COL4A3):c.2223+20A>G
|
|
|
NM_000091.5(COL4A3):c.2223G>A (p.Lys741=)
|
rs1574774667
|
|
NM_000091.5(COL4A3):c.2224-10T>C
|
|
|
NM_000091.5(COL4A3):c.2224-11C>A
|
|
|
NM_000091.5(COL4A3):c.2224-13T>A
|
|
|
NM_000091.5(COL4A3):c.2224-16A>G
|
|
|
NM_000091.5(COL4A3):c.2224-18A>G
|
|
|
NM_000091.5(COL4A3):c.2224-7G>A
|
rs2106151316
|
|
NM_000091.5(COL4A3):c.2225G>A (p.Gly742Glu)
|
|
|
NM_000091.5(COL4A3):c.222G>A (p.Pro74=)
|
rs187950806
|
|
NM_000091.5(COL4A3):c.2253A>G (p.Gly751=)
|
|
|
NM_000091.5(COL4A3):c.2263C>T (p.Pro755Ser)
|
|
|
NM_000091.5(COL4A3):c.226_229dup (p.Pro77fs)
|
|
|
NM_000091.5(COL4A3):c.2275G>A (p.Gly759Arg)
|
rs2071886531
|
|
NM_000091.5(COL4A3):c.2275G>C (p.Gly759Arg)
|
|
|
NM_000091.5(COL4A3):c.2280A>G (p.Glu760=)
|
|
|
NM_000091.5(COL4A3):c.2291C>A (p.Ser764Tyr)
|
|
|
NM_000091.5(COL4A3):c.2292T>C (p.Ser764=)
|
|
|
NM_000091.5(COL4A3):c.2298A>G (p.Glu766=)
|
rs2106151797
|
|
NM_000091.5(COL4A3):c.2301T>C (p.His767=)
|
rs1383328903
|
|
NM_000091.5(COL4A3):c.2313A>C (p.Gly771=)
|
|
|
NM_000091.5(COL4A3):c.2313_2330del (p.772LPG[1])
|
rs2071889322
|
|
NM_000091.5(COL4A3):c.2316C>G (p.Leu772=)
|
|
|
NM_000091.5(COL4A3):c.2323_2340del (p.772LPG[1])
|
rs1306992119
|
|
NM_000091.5(COL4A3):c.2328A>G (p.Pro776=)
|
|
|
NM_000091.5(COL4A3):c.232A>C (p.Lys78Gln)
|
|
|
NM_000091.5(COL4A3):c.232A>G (p.Lys78Glu)
|
rs760637313
|
|
NM_000091.5(COL4A3):c.2330G>A (p.Gly777Asp)
|
rs2106151987
|
|
NM_000091.5(COL4A3):c.2330G>T (p.Gly777Val)
|
rs2106151987
|
|
NM_000091.5(COL4A3):c.2336del (p.Pro779fs)
|
rs2106152005
|
|
NM_000091.5(COL4A3):c.234+10C>A
|
|
|
NM_000091.5(COL4A3):c.234+13G>T
|
|
|
NM_000091.5(COL4A3):c.234+17G>A
|
|
|
NM_000091.5(COL4A3):c.234+19T>C
|
|
|
NM_000091.5(COL4A3):c.234+1G>A
|
rs1240838887
|
|
NM_000091.5(COL4A3):c.235-12A>T
|
|
|
NM_000091.5(COL4A3):c.235-1G>A
|
rs2125904309
|
|
NM_000091.5(COL4A3):c.235-1G>C
|
rs2125904309
|
|
NM_000091.5(COL4A3):c.235-20C>T
|
|
|
NM_000091.5(COL4A3):c.2350A>G (p.Asn784Asp)
|
|
|
NM_000091.5(COL4A3):c.2352T>C (p.Asn784=)
|
|
|
NM_000091.5(COL4A3):c.2353G>T (p.Glu785Ter)
|
rs755792441
|
|
NM_000091.5(COL4A3):c.2355A>C (p.Glu785Asp)
|
rs2106152150
|
|
NM_000091.5(COL4A3):c.2370A>G (p.Pro790=)
|
|
|
NM_000091.5(COL4A3):c.2374+12A>C
|
|
|
NM_000091.5(COL4A3):c.2374+18A>G
|
|
|
NM_000091.5(COL4A3):c.2374+5A>C
|
|
|
NM_000091.5(COL4A3):c.2374+9G>C
|
rs1574776643
|
|
NM_000091.5(COL4A3):c.2374+9G>T
|
rs1574776643
|
|
NM_000091.5(COL4A3):c.2374G>T (p.Gly792Ter)
|
rs2071892705
|
|
NM_000091.5(COL4A3):c.2375-11_2384del
|
|
|
NM_000091.5(COL4A3):c.2375-13C>T
|
|
|
NM_000091.5(COL4A3):c.2375-18T>C
|
rs1449018778
|
|
NM_000091.5(COL4A3):c.2375-19C>T
|
|
|
NM_000091.5(COL4A3):c.2375-20A>G
|
|
|
NM_000091.5(COL4A3):c.2375-20A>T
|
|
|
NM_000091.5(COL4A3):c.2375-2A>G
|
rs2071916145
|
|
NM_000091.5(COL4A3):c.2375-2A>T
|
rs2071916145
|
|
NM_000091.5(COL4A3):c.2375-4G>C
|
rs2106153995
|
|
NM_000091.5(COL4A3):c.2375-5del
|
rs1273730221
|
|
NM_000091.5(COL4A3):c.2379T>C (p.Asp793=)
|
rs2106154034
|
|
NM_000091.5(COL4A3):c.237C>T (p.Gly79=)
|
|
|
NM_000091.5(COL4A3):c.2381C>T (p.Pro794Leu)
|
rs1559895213
|
|
NM_000091.5(COL4A3):c.2383G>C (p.Gly795Arg)
|
rs2071916580
|
|
NM_000091.5(COL4A3):c.2391T>A (p.Pro797=)
|
|
|
NM_000091.5(COL4A3):c.2394A>G (p.Gly798=)
|
|
|
NM_000091.5(COL4A3):c.2401G>A (p.Gly801Arg)
|
|
|
NM_000091.5(COL4A3):c.2406A>G (p.Glu802=)
|
|
|
NM_000091.5(COL4A3):c.2411G>A (p.Gly804Glu)
|
|
|
NM_000091.5(COL4A3):c.2411G>T (p.Gly804Val)
|
rs2106154204
|
|
NM_000091.5(COL4A3):c.2412A>T (p.Gly804=)
|
|
|
NM_000091.5(COL4A3):c.2417dup (p.Gly807fs)
|
rs1440033157
|
|
NM_000091.5(COL4A3):c.2420G>A (p.Gly807Glu)
|
|
|
NM_000091.5(COL4A3):c.2421A>G (p.Gly807=)
|
|
|
NM_000091.5(COL4A3):c.2433G>A (p.Glu811=)
|
|
|
NM_000091.5(COL4A3):c.2434G>A (p.Gly812Ser)
|
|
|
NM_000091.5(COL4A3):c.2434G>C (p.Gly812Arg)
|
|
|
NM_000091.5(COL4A3):c.2436T>C (p.Gly812=)
|
|
|
NM_000091.5(COL4A3):c.2444G>A (p.Gly815Glu)
|
rs2106154480
|
|
NM_000091.5(COL4A3):c.2448C>T (p.Ala816=)
|
rs370583118
|
|
NM_000091.5(COL4A3):c.2451A>G (p.Gln817=)
|
rs2106154542
|
|
NM_000091.5(COL4A3):c.2469T>C (p.Asn823=)
|
|
|
NM_000091.5(COL4A3):c.2471G>A (p.Gly824Glu)
|
|
|
NM_000091.5(COL4A3):c.2475G>A (p.Leu825=)
|
rs192027050
|
|
NM_000091.5(COL4A3):c.2481G>A (p.Gly827=)
|
rs2106154689
|
|
NM_000091.5(COL4A3):c.2488+111G>A
|
rs6733386
|
|
NM_000091.5(COL4A3):c.2488+11G>A
|
|
|
NM_000091.5(COL4A3):c.2488+1G>T
|
|
|
NM_000091.5(COL4A3):c.2488+7G>A
|
|
|
NM_000091.5(COL4A3):c.2488+8G>A
|
rs1319950235
|
|
NM_000091.5(COL4A3):c.2489-11T>C
|
|
|
NM_000091.5(COL4A3):c.2489-19T>C
|
|
|
NM_000091.5(COL4A3):c.2489-1G>A
|
rs1574782406
|
|
NM_000091.5(COL4A3):c.2489-8G>C
|
|
|
NM_000091.5(COL4A3):c.2489-90_2489-89insT
|
rs1559896717
|
|
NM_000091.5(COL4A3):c.248T>A (p.Leu83His)
|
|
|
NM_000091.5(COL4A3):c.2490C>G (p.Gly830=)
|
rs2106163328
|
|
NM_000091.5(COL4A3):c.249T>G (p.Leu83=)
|
rs1409899436
|
|
NM_000091.5(COL4A3):c.2504C>T (p.Thr835Met)
|
|
|
NM_000091.5(COL4A3):c.2507G>A (p.Gly836Glu)
|
rs2072040353
|
|
NM_000091.5(COL4A3):c.2525G>A (p.Gly842Glu)
|
|
|
NM_000091.5(COL4A3):c.2538G>A (p.Leu846=)
|
|
|
NM_000091.5(COL4A3):c.253G>T (p.Gly85Ter)
|
rs2125904394
|
|
NM_000091.5(COL4A3):c.2546C>G (p.Ser849Ter)
|
rs2072043249
|
|
NM_000091.5(COL4A3):c.2547A>G (p.Ser849=)
|
|
|
NM_000091.5(COL4A3):c.2548G>A (p.Gly850Arg)
|
|
|
NM_000091.5(COL4A3):c.2553T>C (p.Phe851=)
|
|
|
NM_000091.5(COL4A3):c.2556T>C (p.Pro852=)
|
|
|
NM_000091.5(COL4A3):c.2559A>C (p.Gly853=)
|
|
|
NM_000091.5(COL4A3):c.2562A>C (p.Glu854Asp)
|
|
|
NM_000091.5(COL4A3):c.2564C>G (p.Thr855Ser)
|
|
|
NM_000091.5(COL4A3):c.2565T>G (p.Thr855=)
|
rs2106164102
|
|
NM_000091.5(COL4A3):c.2567G>T (p.Gly856Val)
|
|
|
NM_000091.5(COL4A3):c.2568A>T (p.Gly856=)
|
rs1351637178
|
|
NM_000091.5(COL4A3):c.2572C>T (p.Pro858Ser)
|
|
|
NM_000091.5(COL4A3):c.257del (p.Leu86fs)
|
|
|
NM_000091.5(COL4A3):c.2585G>C (p.Gly862Ala)
|
|
|
NM_000091.5(COL4A3):c.2586T>C (p.Gly862=)
|
|
|
NM_000091.5(COL4A3):c.2593G>A (p.Gly865Ser)
|
rs1559897190
|
|
NM_000091.5(COL4A3):c.2602G>C (p.Gly868Arg)
|
rs2106164384
|
|
NM_000091.5(COL4A3):c.2612G>T (p.Gly871Val)
|
rs1402894646
|
|
NM_000091.5(COL4A3):c.2618G>A (p.Arg873Lys)
|
|
|
NM_000091.5(COL4A3):c.261G>A (p.Thr87=)
|
rs369517619
|
|
NM_000091.5(COL4A3):c.261G>C (p.Thr87=)
|
rs369517619
|
|
NM_000091.5(COL4A3):c.2620G>A (p.Gly874Arg)
|
rs2106164540
|
|
NM_000091.5(COL4A3):c.2621_2622delinsT (p.Gly874fs)
|
rs1553760257
|
|
NM_000091.5(COL4A3):c.2628A>T (p.Pro876=)
|
rs2072049173
|
|
NM_000091.5(COL4A3):c.2628del (p.Gly877fs)
|
|
|
NM_000091.5(COL4A3):c.2638G>T (p.Gly880Ter)
|
rs2106164697
|
|
NM_000091.5(COL4A3):c.2647G>A (p.Gly883Arg)
|
rs1559897288
|
|
NM_000091.5(COL4A3):c.2652A>G (p.Pro884=)
|
|
|
NM_000091.5(COL4A3):c.2656+10T>C
|
|
|
NM_000091.5(COL4A3):c.2656+10TG[2]
|
|
|
NM_000091.5(COL4A3):c.2656+11G>T
|
|
|
NM_000091.5(COL4A3):c.2656+19C>G
|
|
|
NM_000091.5(COL4A3):c.2656+7T>C
|
rs1441787877
|
|
NM_000091.5(COL4A3):c.2657-10G>T
|
|
|
NM_000091.5(COL4A3):c.2657-13T>C
|
|
|
NM_000091.5(COL4A3):c.2657-14A>T
|
|
|
NM_000091.5(COL4A3):c.2657-15A>C
|
|
|
NM_000091.5(COL4A3):c.2657-15_2657-14insTTTT
|
|
|
NM_000091.5(COL4A3):c.2657-18G>A
|
|
|
NM_000091.5(COL4A3):c.2657-19T>C
|
|
|
NM_000091.5(COL4A3):c.2657-1G>T
|
rs373324875
|
|
NM_000091.5(COL4A3):c.2657-4A>G
|
|
|
NM_000091.5(COL4A3):c.2657-5C>A
|
|
|
NM_000091.5(COL4A3):c.2657-5C>T
|
rs2106171333
|
|
NM_000091.5(COL4A3):c.2657-6C>T
|
|
|
NM_000091.5(COL4A3):c.2664T>C (p.Asp888=)
|
rs755114611
|
|
NM_000091.5(COL4A3):c.2672T>C (p.Ile891Thr)
|
|
|
NM_000091.5(COL4A3):c.2673T>C (p.Ile891=)
|
|
|
NM_000091.5(COL4A3):c.2681T>C (p.Met894Thr)
|
|
|
NM_000091.5(COL4A3):c.2688T>C (p.Phe896=)
|
|
|
NM_000091.5(COL4A3):c.2703C>T (p.Gly901=)
|
rs1354980711
|
|
NM_000091.5(COL4A3):c.2706T>G (p.Pro902=)
|
|
|
NM_000091.5(COL4A3):c.2712G>C (p.Gly904=)
|
rs781672496
|
|
NM_000091.5(COL4A3):c.2717dup (p.Gly907fs)
|
rs2106171752
|
|
NM_000091.5(COL4A3):c.2718T>C (p.Pro906=)
|
|
|
NM_000091.5(COL4A3):c.2718T>G (p.Pro906=)
|
rs769322638
|
|
NM_000091.5(COL4A3):c.2721G>A (p.Gly907=)
|
|
|
NM_000091.5(COL4A3):c.272G>C (p.Gly91Ala)
|
|
|
NM_000091.5(COL4A3):c.2733A>C (p.Thr911=)
|
|
|
NM_000091.5(COL4A3):c.2736A>G (p.Pro912=)
|
|
|
NM_000091.5(COL4A3):c.2739G>A (p.Gly913=)
|
rs2106171980
|
|
NM_000091.5(COL4A3):c.2745_2746+7del
|
|
|
NM_000091.5(COL4A3):c.2746+10A>G
|
rs2106172178
|
|
NM_000091.5(COL4A3):c.2746+10AG[3]
|
rs2106172199
|
|
NM_000091.5(COL4A3):c.2746+10_2746+11insTATC
|
|
|
NM_000091.5(COL4A3):c.2746+11G>C
|
|
|
NM_000091.5(COL4A3):c.2746+12_2746+13del
|
rs2106172199
|
|
NM_000091.5(COL4A3):c.2746+12_2746+28del
|
rs753782348
|
|
NM_000091.5(COL4A3):c.2746+1del
|
rs2106172051
|
|
NM_000091.5(COL4A3):c.2746+9T>A
|
rs367574148
|
|
NM_000091.5(COL4A3):c.2746+9T>C
|
rs367574148
|
|
NM_000091.5(COL4A3):c.2747-10T>C
|
|
|
NM_000091.5(COL4A3):c.2747-14C>T
|
|
|
NM_000091.5(COL4A3):c.2747-16T>C
|
|
|
NM_000091.5(COL4A3):c.2747-6T>C
|
|
|
NM_000091.5(COL4A3):c.274G>A (p.Val92Ile)
|
rs200873401
|
|
NM_000091.5(COL4A3):c.2751C>T (p.Ser917=)
|
rs2106174616
|
|
NM_000091.5(COL4A3):c.275T>A (p.Val92Glu)
|
|
|
NM_000091.5(COL4A3):c.2766A>G (p.Gly922=)
|
rs2106174727
|
|
NM_000091.5(COL4A3):c.2768_2778del (p.Val923fs)
|
rs766306957
|
|
NM_000091.5(COL4A3):c.2775C>A (p.Gly925=)
|
|
|
NM_000091.5(COL4A3):c.277A>T (p.Arg93Trp)
|
|
|
NM_000091.5(COL4A3):c.2782_2797del (p.Gly928fs)
|
|
|
NM_000091.5(COL4A3):c.2786C>A (p.Thr929Asn)
|
|
|
NM_000091.5(COL4A3):c.279+13A>G
|
|
|
NM_000091.5(COL4A3):c.279+18T>G
|
|
|
NM_000091.5(COL4A3):c.279+1G>A
|
rs202001097
|
|
NM_000091.5(COL4A3):c.279+1G>T
|
rs202001097
|
|
NM_000091.5(COL4A3):c.279+8G>A
|
|
|
NM_000091.5(COL4A3):c.2794G>T (p.Ala932Ser)
|
|
|
NM_000091.5(COL4A3):c.2796C>T (p.Ala932=)
|
rs2106174881
|
|
NM_000091.5(COL4A3):c.280-10A>G
|
rs1367127790
|
|
NM_000091.5(COL4A3):c.280-10_280-9del
|
rs768505729
|
|
NM_000091.5(COL4A3):c.280-11T>A
|
|
|
NM_000091.5(COL4A3):c.280-13C>T
|
|
|
NM_000091.5(COL4A3):c.280-19C>G
|
|
|
NM_000091.5(COL4A3):c.280-20C>T
|
|
|
NM_000091.5(COL4A3):c.280-41_280-40insGT
|
rs200702001
|
|
NM_000091.5(COL4A3):c.2801G>C (p.Gly934Ala)
|
rs2106174926
|
|
NM_000091.5(COL4A3):c.2805A>C (p.Glu935Asp)
|
rs2106174959
|
|
NM_000091.5(COL4A3):c.2805A>G (p.Glu935=)
|
|
|
NM_000091.5(COL4A3):c.2810G>A (p.Gly937Glu)
|
rs1559899600
|
|
NM_000091.5(COL4A3):c.2814T>C (p.Asp938=)
|
rs2106175044
|
|
NM_000091.5(COL4A3):c.2832T>C (p.Pro944=)
|
|
|
NM_000091.5(COL4A3):c.2838_2839del (p.Glu946fs)
|
rs1553760802
|
|
NM_000091.5(COL4A3):c.283A>C (p.Ile95Leu)
|
|
|
NM_000091.5(COL4A3):c.2843C>T (p.Ser948Phe)
|
|
|
NM_000091.5(COL4A3):c.2850A>T (p.Val950=)
|
rs2106175353
|
|
NM_000091.5(COL4A3):c.2856G>A (p.Gly952=)
|
rs2106175432
|
|
NM_000091.5(COL4A3):c.2856G>C (p.Gly952=)
|
rs2106175432
|
|
NM_000091.5(COL4A3):c.287G>A (p.Ser96Asn)
|
rs2125906629
|
|
NM_000091.5(COL4A3):c.2881+18T>C
|
|
|
NM_000091.5(COL4A3):c.2881+19G>A
|
|
|
NM_000091.5(COL4A3):c.2881+1G>A
|
rs1559899827
|
|
NM_000091.5(COL4A3):c.2881+1G>T
|
rs1559899827
|
|
NM_000091.5(COL4A3):c.2881+9T>C
|
rs2106175673
|
|
NM_000091.5(COL4A3):c.2881G>C (p.Gly961Arg)
|
rs1285576172
|
|
NM_000091.5(COL4A3):c.2882-14G>A
|
|
|
NM_000091.5(COL4A3):c.2882-17C>T
|
|
|
NM_000091.5(COL4A3):c.2882-182del
|
rs200614219
|
|
NM_000091.5(COL4A3):c.2882-182dup
|
rs200614219
|
|
NM_000091.5(COL4A3):c.2882-183_2882-182dup
|
rs200614219
|
|
NM_000091.5(COL4A3):c.2882-184_2882-182dup
|
rs200614219
|
|
NM_000091.5(COL4A3):c.2882-2A>G
|
rs2072527010
|
|
NM_000091.5(COL4A3):c.2882-6C>T
|
|
|
NM_000091.5(COL4A3):c.2882-8A>G
|
rs2072526413
|
|
NM_000091.5(COL4A3):c.2882-916_2927del
|
|
|
NM_000091.5(COL4A3):c.2882-9T>C
|
|
|
NM_000091.5(COL4A3):c.288T>A (p.Ser96Arg)
|
|
|
NM_000091.5(COL4A3):c.288T>C (p.Ser96=)
|
|
|
NM_000091.5(COL4A3):c.2908G>T (p.Gly970Ter)
|
|
|
NM_000091.5(COL4A3):c.2916_2917del (p.Gly973fs)
|
rs1559904445
|
|
NM_000091.5(COL4A3):c.2922T>C (p.Val974=)
|
rs2106201581
|
|
NM_000091.5(COL4A3):c.2923C>G (p.Pro975Ala)
|
|
|
NM_000091.5(COL4A3):c.2930T>G (p.Met977Arg)
|
|
|
NM_000091.5(COL4A3):c.2934A>T (p.Pro978=)
|
rs2106201680
|
|
NM_000091.5(COL4A3):c.293T>G (p.Leu98Trp)
|
rs768983795
|
|
NM_000091.5(COL4A3):c.2946C>A (p.Gly982=)
|
|
|
NM_000091.5(COL4A3):c.2946C>T (p.Gly982=)
|
|
|
NM_000091.5(COL4A3):c.295C>G (p.Pro99Ala)
|
rs774434848
|
|
NM_000091.5(COL4A3):c.2961C>G (p.Pro987=)
|
rs375523118
|
|
NM_000091.5(COL4A3):c.2966C>A (p.Pro989Gln)
|
|
|
NM_000091.5(COL4A3):c.2972G>T (p.Gly991Val)
|
|
|
NM_000091.5(COL4A3):c.2980+19T>A
|
|
|
NM_000091.5(COL4A3):c.2980+1G>A
|
|
|
NM_000091.5(COL4A3):c.2981-10T>A
|
rs2106205916
|
|
NM_000091.5(COL4A3):c.2981-13A>C
|
|
|
NM_000091.5(COL4A3):c.2981-13A>G
|
|
|
NM_000091.5(COL4A3):c.2981-17A>G
|
|
|
NM_000091.5(COL4A3):c.2981-18T>C
|
rs2106205838
|
|
NM_000091.5(COL4A3):c.2981-9G>A
|
rs1281511455
|
|
NM_000091.5(COL4A3):c.2981G>T (p.Gly994Val)
|
rs1574803132
|
|
NM_000091.5(COL4A3):c.2982C>A (p.Gly994=)
|
|
|
NM_000091.5(COL4A3):c.2982C>T (p.Gly994=)
|
|
|
NM_000091.5(COL4A3):c.2985C>A (p.Pro995=)
|
|
|
NM_000091.5(COL4A3):c.2990G>A (p.Gly997Glu)
|
rs1553762113
|
|
NM_000091.5(COL4A3):c.2992G>T (p.Asp998Tyr)
|
rs2106206059
|
|
NM_000091.5(COL4A3):c.3000C>T (p.Gly1000=)
|
|
|
NM_000091.5(COL4A3):c.3009G>A (p.Gly1003=)
|
rs2106206188
|
|
NM_000091.5(COL4A3):c.3015T>C (p.Pro1005=)
|
|
|
NM_000091.5(COL4A3):c.3021A>G (p.Glu1007=)
|
rs1360130917
|
|
NM_000091.5(COL4A3):c.3026G>C (p.Gly1009Ala)
|
rs1204230457
|
|
NM_000091.5(COL4A3):c.3026del (p.Gly1009fs)
|
rs755109848
|
|
NM_000091.5(COL4A3):c.3030G>A (p.Leu1010=)
|
rs779975470
|
|
NM_000091.5(COL4A3):c.3030G>C (p.Leu1010=)
|
|
|
NM_000091.5(COL4A3):c.3040C>A (p.Pro1014Thr)
|
|
|
NM_000091.5(COL4A3):c.3040C>G (p.Pro1014Ala)
|
|
|
NM_000091.5(COL4A3):c.3054G>A (p.Gly1018=)
|
rs2106206511
|
|
NM_000091.5(COL4A3):c.3059T>C (p.Met1020Thr)
|
|
|
NM_000091.5(COL4A3):c.305del (p.Ser102fs)
|
rs2069242131
|
|
NM_000091.5(COL4A3):c.3068_3069del (p.Pro1023fs)
|
rs1064796094
|
|
NM_000091.5(COL4A3):c.3069A>T (p.Pro1023=)
|
|
|
NM_000091.5(COL4A3):c.3070+14T>C
|
|
|
NM_000091.5(COL4A3):c.3070+18G>A
|
|
|
NM_000091.5(COL4A3):c.3070+1G>A
|
rs2106206598
|
|
NM_000091.5(COL4A3):c.3070+2T>C
|
rs1173685095
|
|
NM_000091.5(COL4A3):c.3070+4A>G
|
|
|
NM_000091.5(COL4A3):c.3071-10C>T
|
|
|
NM_000091.5(COL4A3):c.3071-10del
|
|
|
NM_000091.5(COL4A3):c.3071-15T>C
|
|
|
NM_000091.5(COL4A3):c.3071-15del
|
|
|
NM_000091.5(COL4A3):c.3071-19G>A
|
|
|
NM_000091.5(COL4A3):c.3071-1G>A
|
|
|
NM_000091.5(COL4A3):c.3071-1G>T
|
|
|
NM_000091.5(COL4A3):c.3071-20T>C
|
|
|
NM_000091.5(COL4A3):c.3084A>G (p.Lys1028=)
|
rs2106210356
|
|
NM_000091.5(COL4A3):c.3088G>T (p.Gly1030Ter)
|
|
|
NM_000091.5(COL4A3):c.3090A>G (p.Gly1030=)
|
|
|
NM_000091.5(COL4A3):c.3099A>T (p.Gly1033=)
|
rs2106210424
|
|
NM_000091.5(COL4A3):c.3100T>A (p.Phe1034Ile)
|
|
|
NM_000091.5(COL4A3):c.3108T>C (p.Gly1036=)
|
rs2106210471
|
|
NM_000091.5(COL4A3):c.3115G>C (p.Gly1039Arg)
|
rs2072647370
|
|
NM_000091.5(COL4A3):c.3116G>A (p.Gly1039Glu)
|
rs2072647561
|
|
NM_000091.5(COL4A3):c.3119_3120del (p.Arg1040fs)
|
rs1161799599
|
|
NM_000091.5(COL4A3):c.3126C>T (p.Gly1042=)
|
|
|
NM_000091.5(COL4A3):c.3134G>T (p.Gly1045Val)
|
rs2072649241
|
|
NM_000091.5(COL4A3):c.3142G>C (p.Gly1048Arg)
|
rs1559906448
|
|
NM_000091.5(COL4A3):c.3147C>G (p.Leu1049=)
|
rs2106210713
|
|
NM_000091.5(COL4A3):c.3148C>T (p.Gln1050Ter)
|
rs1553762279
|
|
NM_000091.5(COL4A3):c.3150G>A (p.Gln1050=)
|
|
|
NM_000091.5(COL4A3):c.3151G>A (p.Gly1051Arg)
|
|
|
NM_000091.5(COL4A3):c.3152del (p.Gly1051fs)
|
|
|
NM_000091.5(COL4A3):c.3156_3164del (p.Asp1052_Gly1054del)
|
rs2106210740
|
|
NM_000091.5(COL4A3):c.3165G>A (p.Glu1055=)
|
|
|
NM_000091.5(COL4A3):c.3171T>C (p.Gly1057=)
|
rs2106210828
|
|
NM_000091.5(COL4A3):c.3176C>G (p.Ser1059Ter)
|
rs2072651666
|
|
NM_000091.5(COL4A3):c.3177A>C (p.Ser1059=)
|
rs2072651820
|
|
NM_000091.5(COL4A3):c.3180del (p.Gly1061fs)
|
|
|
NM_000091.5(COL4A3):c.3187A>C (p.Arg1063=)
|
|
|
NM_000091.5(COL4A3):c.3198A>G (p.Pro1066=)
|
|
|
NM_000091.5(COL4A3):c.3200C>G (p.Pro1067Arg)
|
rs55849096
|
|
NM_000091.5(COL4A3):c.3200C>T (p.Pro1067Leu)
|
rs55849096
|
|
NM_000091.5(COL4A3):c.3201G>A (p.Pro1067=)
|
rs191829138
|
|
NM_000091.5(COL4A3):c.3201G>C (p.Pro1067=)
|
rs191829138
|
|
NM_000091.5(COL4A3):c.3209C>T (p.Thr1070Met)
|
|
|
NM_000091.5(COL4A3):c.3210+18A>C
|
|
|
NM_000091.5(COL4A3):c.3210+2T>C
|
rs2106211133
|
|
NM_000091.5(COL4A3):c.3210+7A>G
|
rs1361175972
|
|
NM_000091.5(COL4A3):c.3210+9G>A
|
rs2106211202
|
|
NM_000091.5(COL4A3):c.3211-15T>C
|
|
|
NM_000091.5(COL4A3):c.3211-15T>G
|
rs576917186
|
|
NM_000091.5(COL4A3):c.3211-1G>C
|
rs1553762936
|
|
NM_000091.5(COL4A3):c.3211-2A>C
|
rs2106226183
|
|
NM_000091.5(COL4A3):c.3211-7A>G
|
rs2106226162
|
|
NM_000091.5(COL4A3):c.3211-9A>G
|
rs2072854542
|
|
NM_000091.5(COL4A3):c.3212G>A (p.Gly1071Glu)
|
rs765128550
|
|
NM_000091.5(COL4A3):c.321T>C (p.Leu107=)
|
|
|
NM_000091.5(COL4A3):c.3222A>G (p.Gly1074=)
|
|
|
NM_000091.5(COL4A3):c.3225G>C (p.Leu1075=)
|
rs763010804
|
|
NM_000091.5(COL4A3):c.3231T>C (p.Gly1077=)
|
|
|
NM_000091.5(COL4A3):c.3233A>C (p.Asp1078Ala)
|
|
|
NM_000091.5(COL4A3):c.3233A>G (p.Asp1078Gly)
|
rs766520935
|
|
NM_000091.5(COL4A3):c.3234T>C (p.Asp1078=)
|
|
|
NM_000091.5(COL4A3):c.3238G>A (p.Gly1080Arg)
|
rs1267839034
|
|
NM_000091.5(COL4A3):c.324+17A>G
|
|
|
NM_000091.5(COL4A3):c.324+1G>A
|
rs2125906801
|
|
NM_000091.5(COL4A3):c.324+20C>T
|
|
|
NM_000091.5(COL4A3):c.324+321dup
|
rs11400067
|
|
NM_000091.5(COL4A3):c.324+9T>C
|
rs904160606
|
|
NM_000091.5(COL4A3):c.3240A>G (p.Gly1080=)
|
rs2106226480
|
|
NM_000091.5(COL4A3):c.3244_3247del (p.Lys1082fs)
|
rs1057516204
|
|
NM_000091.5(COL4A3):c.325-12TTC[2]
|
|
|
NM_000091.5(COL4A3):c.325-13G>C
|
|
|
NM_000091.5(COL4A3):c.325-6T>C
|
|
|
NM_000091.5(COL4A3):c.3251A>T (p.Glu1084Val)
|
rs2072858880
|
|
NM_000091.5(COL4A3):c.3262C>A (p.Pro1088Thr)
|
rs2072859830
|
|
NM_000091.5(COL4A3):c.3266G>T (p.Gly1089Val)
|
|
|
NM_000091.5(COL4A3):c.3267C>T (p.Gly1089=)
|
|
|
NM_000091.5(COL4A3):c.3270A>T (p.Pro1090=)
|
|
|
NM_000091.5(COL4A3):c.3273T>C (p.Pro1091=)
|
|
|
NM_000091.5(COL4A3):c.3275G>T (p.Gly1092Val)
|
rs1559909513
|
|
NM_000091.5(COL4A3):c.3276A>C (p.Gly1092=)
|
rs2106226778
|
|
NM_000091.5(COL4A3):c.3276A>G (p.Gly1092=)
|
rs2106226778
|
|
NM_000091.5(COL4A3):c.3280T>C (p.Leu1094=)
|
|
|
NM_000091.5(COL4A3):c.3282_3302dup (p.Gly1101_Ala1102insGlyProAlaGlyProGluGly)
|
|
|
NM_000091.5(COL4A3):c.3288T>G (p.Pro1096=)
|
rs2072862535
|
|
NM_000091.5(COL4A3):c.3290C>G (p.Ala1097Gly)
|
|
|
NM_000091.5(COL4A3):c.3294A>G (p.Gly1098=)
|
|
|
NM_000091.5(COL4A3):c.329C>G (p.Thr110Ser)
|
rs543390575
|
|
NM_000091.5(COL4A3):c.3303A>C (p.Gly1101=)
|
|
|
NM_000091.5(COL4A3):c.3304G>A (p.Ala1102Thr)
|
|
|
NM_000091.5(COL4A3):c.330C>T (p.Thr110=)
|
|
|
NM_000091.5(COL4A3):c.3312AAGTCCTGG[1] (p.1105SPG[1])
|
rs756539994
|
|
NM_000091.5(COL4A3):c.3318T>C (p.Pro1106=)
|
|
|
NM_000091.5(COL4A3):c.3318T>G (p.Pro1106=)
|
|
|
NM_000091.5(COL4A3):c.3321A>G (p.Gly1107=)
|
rs2106227131
|
|
NM_000091.5(COL4A3):c.3324T>C (p.Ser1108=)
|
rs2106227159
|
|
NM_000091.5(COL4A3):c.3327T>C (p.Pro1109=)
|
|
|
NM_000091.5(COL4A3):c.3328G>C (p.Gly1110Arg)
|
|
|
NM_000091.5(COL4A3):c.3330C>T (p.Gly1110=)
|
|
|
NM_000091.5(COL4A3):c.3331C>T (p.Leu1111Phe)
|
|
|
NM_000091.5(COL4A3):c.3337+11A>G
|
|
|
NM_000091.5(COL4A3):c.3337+1G>T
|
|
|
NM_000091.5(COL4A3):c.3337+1del
|
rs1350835100
|
|
NM_000091.5(COL4A3):c.3337+6G>T
|
|
|
NM_000091.5(COL4A3):c.3337+9T>G
|
|
|
NM_000091.5(COL4A3):c.3338-143T>C
|
rs6436675
|
|
NM_000091.5(COL4A3):c.3338-16C>A
|
|
|
NM_000091.5(COL4A3):c.3338-16CT[2]
|
|
|
NM_000091.5(COL4A3):c.3338-18C>T
|
|
|
NM_000091.5(COL4A3):c.3338-1G>A
|
|
|
NM_000091.5(COL4A3):c.3338-9C>T
|
|
|
NM_000091.5(COL4A3):c.3345A>G (p.Pro1115=)
|
|
|
NM_000091.5(COL4A3):c.3348T>C (p.Gly1116=)
|
rs2106233308
|
|
NM_000091.5(COL4A3):c.334_337del (p.Gly112fs)
|
|
|
NM_000091.5(COL4A3):c.3357_3364dup (p.Gly1122fs)
|
rs2072936004
|
|
NM_000091.5(COL4A3):c.335G>A (p.Gly112Asp)
|
|
|
NM_000091.5(COL4A3):c.3374G>A (p.Gly1125Glu)
|
|
|
NM_000091.5(COL4A3):c.3388C>T (p.Leu1130=)
|
rs2106233498
|
|
NM_000091.5(COL4A3):c.3392G>A (p.Gly1131Asp)
|
|
|
NM_000091.5(COL4A3):c.339T>C (p.Asn113=)
|
rs2125909903
|
|
NM_000091.5(COL4A3):c.3406A>C (p.Arg1136=)
|
|
|
NM_000091.5(COL4A3):c.3411C>A (p.Gly1137=)
|
|
|
NM_000091.5(COL4A3):c.3418+12G>A
|
|
|
NM_000091.5(COL4A3):c.3418+17T>G
|
|
|
NM_000091.5(COL4A3):c.3418+19C>T
|
|
|
NM_000091.5(COL4A3):c.3418+1G>T
|
|
|
NM_000091.5(COL4A3):c.3418+21_3418+22del
|
|
|
NM_000091.5(COL4A3):c.3418+6A>G
|
|
|
NM_000091.5(COL4A3):c.3419-10T>C
|
rs2106235502
|
|
NM_000091.5(COL4A3):c.3419-17T>G
|
|
|
NM_000091.5(COL4A3):c.3419-18T>G
|
|
|
NM_000091.5(COL4A3):c.3419-19T>G
|
|
|
NM_000091.5(COL4A3):c.3419-1G>C
|
|
|
NM_000091.5(COL4A3):c.3419-20G>T
|
|
|
NM_000091.5(COL4A3):c.3419-20_3419-19del
|
|
|
NM_000091.5(COL4A3):c.3419-2A>G
|
|
|
NM_000091.5(COL4A3):c.3419-4del
|
rs35803812
|
|
NM_000091.5(COL4A3):c.3419-5_3419-4del
|
rs35803812
|
|
NM_000091.5(COL4A3):c.3419-5_3424del
|
|
|
NM_000091.5(COL4A3):c.3419-6T>C
|
rs2106235534
|
|
NM_000091.5(COL4A3):c.3419-9T>C
|
|
|
NM_000091.5(COL4A3):c.3419G>A (p.Gly1140Asp)
|
|
|
NM_000091.5(COL4A3):c.342C>A (p.Thr114=)
|
rs749696026
|
|
NM_000091.5(COL4A3):c.342C>G (p.Thr114=)
|
rs749696026
|
|
NM_000091.5(COL4A3):c.342C>T (p.Thr114=)
|
rs749696026
|
|
NM_000091.5(COL4A3):c.3435A>T (p.Pro1145=)
|
rs191363114
|
|
NM_000091.5(COL4A3):c.3447A>G (p.Gly1149=)
|
|
|
NM_000091.5(COL4A3):c.3449C>T (p.Pro1150Leu)
|
|
|
NM_000091.5(COL4A3):c.344G>C (p.Gly115Ala)
|
|
|
NM_000091.5(COL4A3):c.3454G>C (p.Gly1152Arg)
|
rs749383170
|
|
NM_000091.5(COL4A3):c.3455G>A (p.Gly1152Asp)
|
|
|
NM_000091.5(COL4A3):c.345G>A (p.Gly115=)
|
rs1453528942
|
|
NM_000091.5(COL4A3):c.345del (p.Pro116fs)
|
rs749390823
|
|
NM_000091.5(COL4A3):c.3463G>A (p.Gly1155Ser)
|
rs774583962
|
|
NM_000091.5(COL4A3):c.3464G>A (p.Gly1155Asp)
|
rs2106235905
|
|
NM_000091.5(COL4A3):c.3471A>C (p.Gln1157His)
|
rs761971869
|
|
NM_000091.5(COL4A3):c.3491G>A (p.Gly1164Asp)
|
|
|
NM_000091.5(COL4A3):c.3514del (p.Thr1172fs)
|
rs2106236126
|
|
NM_000091.5(COL4A3):c.3515C>T (p.Thr1172Met)
|
|
|
NM_000091.5(COL4A3):c.3517+12T>C
|
|
|
NM_000091.5(COL4A3):c.3517+14A>G
|
|
|
NM_000091.5(COL4A3):c.3517+18T>C
|
|
|
NM_000091.5(COL4A3):c.3517+1G>A
|
rs777495096
|
|
NM_000091.5(COL4A3):c.3517+1del
|
rs2106236191
|
|
NM_000091.5(COL4A3):c.3517+22del
|
|
|
NM_000091.5(COL4A3):c.3517+7C>T
|
rs746806400
|
|
NM_000091.5(COL4A3):c.3518-11A>G
|
|
|
NM_000091.5(COL4A3):c.3518-20G>A
|
|
|
NM_000091.5(COL4A3):c.3518-2A>G
|
rs2106237105
|
|
NM_000091.5(COL4A3):c.351C>A (p.Tyr117Ter)
|
rs750308686
|
|
NM_000091.5(COL4A3):c.3528G>A (p.Arg1176=)
|
|
|
NM_000091.5(COL4A3):c.353G>A (p.Gly118Glu)
|
|
|
NM_000091.5(COL4A3):c.3542del (p.Pro1181fs)
|
rs1453992981
|
|
NM_000091.5(COL4A3):c.3546A>T (p.Arg1182Ser)
|
|
|
NM_000091.5(COL4A3):c.3546_3548dup (p.Gly1183dup)
|
rs1175052474
|
|
NM_000091.5(COL4A3):c.3548G>A (p.Gly1183Glu)
|
|
|
NM_000091.5(COL4A3):c.3552C>T (p.Asn1184=)
|
rs374145134
|
|
NM_000091.5(COL4A3):c.3553C>T (p.Pro1185Ser)
|
|
|
NM_000091.5(COL4A3):c.3554C>G (p.Pro1185Arg)
|
|
|
NM_000091.5(COL4A3):c.3565+1G>A
|
|
|
NM_000091.5(COL4A3):c.3565+1del
|
|
|
NM_000091.5(COL4A3):c.3566-13_3566-12delinsGC
|
|
|
NM_000091.5(COL4A3):c.3566-15C>T
|
|
|
NM_000091.5(COL4A3):c.3566-19T>C
|
|
|
NM_000091.5(COL4A3):c.3566-20T>C
|
|
|
NM_000091.5(COL4A3):c.3566-2A>G
|
rs1055753755
|
|
NM_000091.5(COL4A3):c.3566-6T>C
|
|
|
NM_000091.5(COL4A3):c.3566G>A (p.Gly1189Glu)
|
rs2106246658
|
|
NM_000091.5(COL4A3):c.3579_3585del (p.Asp1193fs)
|
rs2106246712
|
|
NM_000091.5(COL4A3):c.3588C>T (p.Ala1196=)
|
rs767337248
|
|
NM_000091.5(COL4A3):c.3591A>G (p.Pro1197=)
|
rs753945261
|
|
NM_000091.5(COL4A3):c.3592G>A (p.Gly1198Ser)
|
rs920061910
|
|
NM_000091.5(COL4A3):c.3594T>G (p.Gly1198=)
|
|
|
NM_000091.5(COL4A3):c.3595T>C (p.Phe1199Leu)
|
|
|
NM_000091.5(COL4A3):c.3600T>C (p.Pro1200=)
|
rs2106246824
|
|
NM_000091.5(COL4A3):c.3603C>T (p.Gly1201=)
|
|
|
NM_000091.5(COL4A3):c.3606C>T (p.Leu1202=)
|
|
|
NM_000091.5(COL4A3):c.3607C>T (p.Pro1203Ser)
|
|
|
NM_000091.5(COL4A3):c.3608del (p.Pro1203fs)
|
|
|
NM_000091.5(COL4A3):c.3609G>A (p.Pro1203=)
|
|
|
NM_000091.5(COL4A3):c.3610G>A (p.Gly1204Ser)
|
rs2106246879
|
|
NM_000091.5(COL4A3):c.3612C>T (p.Gly1204=)
|
|
|
NM_000091.5(COL4A3):c.3619G>A (p.Gly1207Arg)
|
rs1167411352
|
|
NM_000091.5(COL4A3):c.3619G>C (p.Gly1207Arg)
|
rs1167411352
|
|
NM_000091.5(COL4A3):c.3620G>A (p.Gly1207Glu)
|
rs1553764136
|
|
NM_000091.5(COL4A3):c.3621G>A (p.Gly1207=)
|
|
|
NM_000091.5(COL4A3):c.3621G>T (p.Gly1207=)
|
|
|
NM_000091.5(COL4A3):c.3629G>A (p.Gly1210Glu)
|
rs1574823355
|
|
NM_000091.5(COL4A3):c.362G>T (p.Gly121Val)
|
rs1230199187
|
|
NM_000091.5(COL4A3):c.3639A>C (p.Gly1213=)
|
|
|
NM_000091.5(COL4A3):c.3639A>T (p.Gly1213=)
|
|
|
NM_000091.5(COL4A3):c.3656G>T (p.Gly1219Val)
|
|
|
NM_000091.5(COL4A3):c.3659T>G (p.Ile1220Arg)
|
rs1229811135
|
|
NM_000091.5(COL4A3):c.3671del (p.Pro1224fs)
|
rs764376138
|
|
NM_000091.5(COL4A3):c.3679C>G (p.Pro1227Ala)
|
|
|
NM_000091.5(COL4A3):c.3684T>C (p.Gly1228=)
|
rs2106247290
|
|
NM_000091.5(COL4A3):c.3687G>A (p.Leu1229=)
|
|
|
NM_000091.5(COL4A3):c.3696A>G (p.Ala1232=)
|
|
|
NM_000091.5(COL4A3):c.369del (p.Gly124fs)
|
|
|
NM_000091.5(COL4A3):c.3704C>G (p.Pro1235Arg)
|
|
|
NM_000091.5(COL4A3):c.370G>T (p.Gly124Ter)
|
|
|
NM_000091.5(COL4A3):c.3713C>G (p.Thr1238Arg)
|
|
|
NM_000091.5(COL4A3):c.3715G>A (p.Gly1239Arg)
|
rs2106247498
|
|
NM_000091.5(COL4A3):c.3716G>A (p.Gly1239Glu)
|
rs2106247510
|
|
NM_000091.5(COL4A3):c.3718A>T (p.Asn1240Tyr)
|
|
|
NM_000091.5(COL4A3):c.371G>T (p.Gly124Val)
|
rs748188535
|
|
NM_000091.5(COL4A3):c.3732A>C (p.Pro1244=)
|
|
|
NM_000091.5(COL4A3):c.3732A>T (p.Pro1244=)
|
|
|
NM_000091.5(COL4A3):c.3733G>A (p.Gly1245Ser)
|
rs2106247545
|
|
NM_000091.5(COL4A3):c.3734G>A (p.Gly1245Asp)
|
rs1275973987
|
|
NM_000091.5(COL4A3):c.3735C>A (p.Gly1245=)
|
|
|
NM_000091.5(COL4A3):c.3737C>G (p.Ser1246Ter)
|
|
|
NM_000091.5(COL4A3):c.3741A>G (p.Arg1247=)
|
rs1443717801
|
|
NM_000091.5(COL4A3):c.3751+8G>A
|
|
|
NM_000091.5(COL4A3):c.3751G>A (p.Gly1251Ser)
|
rs2106247623
|
|
NM_000091.5(COL4A3):c.3752-10A>T
|
|
|
NM_000091.5(COL4A3):c.3752-12T>C
|
|
|
NM_000091.5(COL4A3):c.3752-13T>C
|
|
|
NM_000091.5(COL4A3):c.3752-14T>C
|
|
|
NM_000091.5(COL4A3):c.3752-18G>C
|
|
|
NM_000091.5(COL4A3):c.3752-19A>G
|
|
|
NM_000091.5(COL4A3):c.3752-2A>C
|
|
|
NM_000091.5(COL4A3):c.3752-2A>G
|
rs2106250696
|
|
NM_000091.5(COL4A3):c.3752-324dup
|
rs145565120
|
|
NM_000091.5(COL4A3):c.3752-4T>C
|
|
|
NM_000091.5(COL4A3):c.3752-5T>C
|
|
|
NM_000091.5(COL4A3):c.3756G>A (p.Ala1252=)
|
rs112516617
|
|
NM_000091.5(COL4A3):c.3756G>T (p.Ala1252=)
|
rs112516617
|
|
NM_000091.5(COL4A3):c.3765C>T (p.Pro1255=)
|
|
|
NM_000091.5(COL4A3):c.3767del (p.Pro1256fs)
|
rs2106250767
|
|
NM_000091.5(COL4A3):c.3768del (p.Gly1257fs)
|
|
|
NM_000091.5(COL4A3):c.376del (p.Ser126fs)
|
rs2125910105
|
|
NM_000091.5(COL4A3):c.3771A>G (p.Gly1257=)
|
|
|
NM_000091.5(COL4A3):c.3777A>G (p.Pro1259=)
|
|
|
NM_000091.5(COL4A3):c.3780G>A (p.Gly1260=)
|
|
|
NM_000091.5(COL4A3):c.3789A>G (p.Val1263=)
|
|
|
NM_000091.5(COL4A3):c.3795C>T (p.Gly1265=)
|
|
|
NM_000091.5(COL4A3):c.3797_3798insGT (p.Ile1266fs)
|
|
|
NM_000091.5(COL4A3):c.3798A>C (p.Ile1266=)
|
rs1574825410
|
|
NM_000091.5(COL4A3):c.3801_3802del (p.Gly1268fs)
|
|
|
NM_000091.5(COL4A3):c.3807C>G (p.Asp1269Glu)
|
|
|
NM_000091.5(COL4A3):c.3807C>T (p.Asp1269=)
|
rs57611801
|
|
NM_000091.5(COL4A3):c.3813del (p.Ser1272fs)
|
rs1559914770
|
|
NM_000091.5(COL4A3):c.3822C>T (p.Gly1274=)
|
|
|
NM_000091.5(COL4A3):c.3825C>A (p.His1275Gln)
|
|
|
NM_000091.5(COL4A3):c.3825C>T (p.His1275=)
|
rs143380907
|
|
NM_000091.5(COL4A3):c.3831C>T (p.Gly1277=)
|
|
|
NM_000091.5(COL4A3):c.3840T>A (p.Gly1280=)
|
|
|
NM_000091.5(COL4A3):c.384T>C (p.Ser128=)
|
rs2125910138
|
|
NM_000091.5(COL4A3):c.3855A>C (p.Ala1285=)
|
rs2106251221
|
|
NM_000091.5(COL4A3):c.3855A>G (p.Ala1285=)
|
|
|
NM_000091.5(COL4A3):c.3861C>T (p.Asp1287=)
|
rs865786656
|
|
NM_000091.5(COL4A3):c.3864G>C (p.Met1288Ile)
|
|
|
NM_000091.5(COL4A3):c.3866del (p.Gly1289fs)
|
|
|
NM_000091.5(COL4A3):c.387+10T>G
|
|
|
NM_000091.5(COL4A3):c.387+17C>T
|
|
|
NM_000091.5(COL4A3):c.387+8C>A
|
|
|
NM_000091.5(COL4A3):c.387+8C>T
|
rs1264984627
|
|
NM_000091.5(COL4A3):c.3876T>C (p.Gly1292=)
|
|
|
NM_000091.5(COL4A3):c.3878G>A (p.Arg1293His)
|
|
|
NM_000091.5(COL4A3):c.388-11A>G
|
|
|
NM_000091.5(COL4A3):c.388-14del
|
|
|
NM_000091.5(COL4A3):c.388-16T>C
|
|
|
NM_000091.5(COL4A3):c.388-18del
|
|
|
NM_000091.5(COL4A3):c.388-1G>T
|
rs1553750900
|
|
NM_000091.5(COL4A3):c.388-2A>G
|
rs2069361375
|
|
NM_000091.5(COL4A3):c.388-4T>C
|
rs761752842
|
|
NM_000091.5(COL4A3):c.388-7C>G
|
rs1364711313
|
|
NM_000091.5(COL4A3):c.388-8T>A
|
|
|
NM_000091.5(COL4A3):c.3882+11A>G
|
|
|
NM_000091.5(COL4A3):c.3882+18T>G
|
rs2106251466
|
|
NM_000091.5(COL4A3):c.3882+5G>A
|
rs1553764454
|
|
NM_000091.5(COL4A3):c.3882+8T>C
|
|
|
NM_000091.5(COL4A3):c.3883-19C>G
|
|
|
NM_000091.5(COL4A3):c.3883-19C>T
|
|
|
NM_000091.5(COL4A3):c.3883-1G>A
|
|
|
NM_000091.5(COL4A3):c.3883-2067_4311dup
|
|
|
NM_000091.5(COL4A3):c.3883-2A>G
|
rs1553765265
|
|
NM_000091.5(COL4A3):c.3883-5T>C
|
rs2106267309
|
|
NM_000091.5(COL4A3):c.3883-85C>T
|
rs55659411
|
|
NM_000091.5(COL4A3):c.3883-9G>A
|
rs2106267296
|
|
NM_000091.5(COL4A3):c.3888A>C (p.Ala1296=)
|
|
|
NM_000091.5(COL4A3):c.3925C>T (p.Pro1309Ser)
|
|
|
NM_000091.5(COL4A3):c.3926C>T (p.Pro1309Leu)
|
|
|
NM_000091.5(COL4A3):c.3936G>A (p.Gln1312=)
|
|
|
NM_000091.5(COL4A3):c.3939G>T (p.Gly1313=)
|
|
|
NM_000091.5(COL4A3):c.3945A>T (p.Pro1315=)
|
|
|
NM_000091.5(COL4A3):c.3948C>A (p.Gly1316=)
|
rs368594549
|
|
NM_000091.5(COL4A3):c.3948C>T (p.Gly1316=)
|
|
|
NM_000091.5(COL4A3):c.3949G>A (p.Val1317Met)
|
|
|
NM_000091.5(COL4A3):c.3955+10T>C
|
rs2106267659
|
|
NM_000091.5(COL4A3):c.3955+14G>A
|
|
|
NM_000091.5(COL4A3):c.3955+16A>G
|
|
|
NM_000091.5(COL4A3):c.3955+17T>C
|
|
|
NM_000091.5(COL4A3):c.3955+1G>C
|
rs2106267620
|
|
NM_000091.5(COL4A3):c.3955+2T>G
|
|
|
NM_000091.5(COL4A3):c.3955G>A (p.Gly1319Arg)
|
rs765661521
|
|
NM_000091.5(COL4A3):c.3956-10T>G
|
rs1232014107
|
|
NM_000091.5(COL4A3):c.3956-14T>C
|
|
|
NM_000091.5(COL4A3):c.3956-18G>A
|
|
|
NM_000091.5(COL4A3):c.3956-1G>A
|
|
|
NM_000091.5(COL4A3):c.3956-8G>A
|
rs1574834101
|
|
NM_000091.5(COL4A3):c.3956-8_3956-5del
|
rs779522146
|
|
NM_000091.5(COL4A3):c.3964G>A (p.Gly1322Ser)
|
rs759739044
|
|
NM_000091.5(COL4A3):c.3966T>C (p.Gly1322=)
|
rs1430918091
|
|
NM_000091.5(COL4A3):c.3969T>C (p.Asn1323=)
|
|
|
NM_000091.5(COL4A3):c.396G>A (p.Gln132=)
|
|
|
NM_000091.5(COL4A3):c.3972T>C (p.Pro1324=)
|
|
|
NM_000091.5(COL4A3):c.3972T>G (p.Pro1324=)
|
|
|
NM_000091.5(COL4A3):c.3975A>T (p.Gly1325=)
|
rs2106270106
|
|
NM_000091.5(COL4A3):c.3979C>T (p.Leu1327=)
|
rs763336358
|
|
NM_000091.5(COL4A3):c.3983G>T (p.Gly1328Val)
|
|
|
NM_000091.5(COL4A3):c.3989T>C (p.Ile1330Thr)
|
|
|
NM_000091.5(COL4A3):c.398G>T (p.Gly133Val)
|
rs750189238
|
|
NM_000091.5(COL4A3):c.3991G>T (p.Gly1331Ter)
|
rs2073395126
|
|
NM_000091.5(COL4A3):c.4002A>C (p.Gly1334=)
|
rs2106270237
|
|
NM_000091.5(COL4A3):c.4002A>G (p.Gly1334=)
|
|
|
NM_000091.5(COL4A3):c.4004C>A (p.Pro1335Gln)
|
|
|
NM_000091.5(COL4A3):c.4010G>A (p.Gly1337Glu)
|
rs779855573
|
|
NM_000091.5(COL4A3):c.4011G>A (p.Gly1337=)
|
rs2106270292
|
|
NM_000091.5(COL4A3):c.4014A>C (p.Pro1338=)
|
rs1309070159
|
|
NM_000091.5(COL4A3):c.4020A>C (p.Gly1340=)
|
rs2073396760
|
|
NM_000091.5(COL4A3):c.4027+11G>A
|
|
|
NM_000091.5(COL4A3):c.4027+11G>T
|
rs191002419
|
|
NM_000091.5(COL4A3):c.4027+16T>C
|
|
|
NM_000091.5(COL4A3):c.4027G>A (p.Gly1343Ser)
|
|
|
NM_000091.5(COL4A3):c.4028-15T>C
|
rs764478470
|
|
NM_000091.5(COL4A3):c.4028-16A>C
|
|
|
NM_000091.5(COL4A3):c.4028-19C>T
|
|
|
NM_000091.5(COL4A3):c.4028-27A>G
|
|
|
NM_000091.5(COL4A3):c.4029T>A (p.Gly1343=)
|
rs2106270631
|
|
NM_000091.5(COL4A3):c.4033C>T (p.Arg1345Cys)
|
|
|
NM_000091.5(COL4A3):c.4044T>C (p.Pro1348=)
|
rs1206339392
|
|
NM_000091.5(COL4A3):c.4045G>A (p.Gly1349Ser)
|
rs2073401281
|
|
NM_000091.5(COL4A3):c.4049C>T (p.Thr1350Ile)
|
rs2106270706
|
|
NM_000091.5(COL4A3):c.4056G>A (p.Lys1352=)
|
rs373251831
|
|
NM_000091.5(COL4A3):c.4057A>G (p.Ile1353Val)
|
|
|
NM_000091.5(COL4A3):c.4059T>A (p.Ile1353=)
|
rs374672854
|
|
NM_000091.5(COL4A3):c.405A>G (p.Pro135=)
|
rs1574675832
|
|
NM_000091.5(COL4A3):c.4064C>T (p.Ser1355Phe)
|
|
|
NM_000091.5(COL4A3):c.4068T>C (p.Leu1356=)
|
rs2106270805
|
|
NM_000091.5(COL4A3):c.4092C>A (p.Gly1364=)
|
rs2073403204
|
|
NM_000091.5(COL4A3):c.4092C>G (p.Gly1364=)
|
rs2073403204
|
|
NM_000091.5(COL4A3):c.4094C>T (p.Thr1365Ile)
|
|
|
NM_000091.5(COL4A3):c.4130dup (p.Pro1378fs)
|
rs2106271092
|
|
NM_000091.5(COL4A3):c.4134A>C (p.Pro1378=)
|
|
|
NM_000091.5(COL4A3):c.4137G>A (p.Gly1379=)
|
|
|
NM_000091.5(COL4A3):c.4137_4153+1del
|
|
|
NM_000091.5(COL4A3):c.4140A>G (p.Pro1380=)
|
rs777800426
|
|
NM_000091.5(COL4A3):c.4143T>G (p.Pro1381=)
|
rs912961400
|
|
NM_000091.5(COL4A3):c.4144_4151del (p.Gly1382fs)
|
|
|
NM_000091.5(COL4A3):c.4153+11G>A
|
|
|
NM_000091.5(COL4A3):c.4153+17A>G
|
|
|
NM_000091.5(COL4A3):c.4153+18T>C
|
|
|
NM_000091.5(COL4A3):c.4153+20G>C
|
|
|
NM_000091.5(COL4A3):c.4153+7G>A
|
|
|
NM_000091.5(COL4A3):c.4153+9C>G
|
|
|
NM_000091.5(COL4A3):c.4154-15T>G
|
|
|
NM_000091.5(COL4A3):c.4154-18A>G
|
|
|
NM_000091.5(COL4A3):c.4154-18A>T
|
rs1280735230
|
|
NM_000091.5(COL4A3):c.4154-19A>T
|
|
|
NM_000091.5(COL4A3):c.4155A>G (p.Gly1385=)
|
|
|
NM_000091.5(COL4A3):c.4164G>A (p.Gly1388=)
|
|
|
NM_000091.5(COL4A3):c.4171G>A (p.Gly1391Ser)
|
|
|
NM_000091.5(COL4A3):c.4182C>T (p.Gly1394=)
|
rs2106274375
|
|
NM_000091.5(COL4A3):c.419C>T (p.Thr140Ile)
|
|
|
NM_000091.5(COL4A3):c.4208G>A (p.Gly1403Glu)
|
|
|
NM_000091.5(COL4A3):c.420A>C (p.Thr140=)
|
|
|
NM_000091.5(COL4A3):c.4212A>G (p.Pro1404=)
|
rs2106274544
|
|
NM_000091.5(COL4A3):c.4217del (p.Gly1406fs)
|
rs2106274574
|
|
NM_000091.5(COL4A3):c.4226G>A (p.Gly1409Asp)
|
|
|
NM_000091.5(COL4A3):c.4226_4227delinsAA (p.Gly1409Glu)
|
|
|
NM_000091.5(COL4A3):c.4227C>T (p.Gly1409=)
|
|
|
NM_000091.5(COL4A3):c.422_423inv (p.Leu141Pro)
|
|
|
NM_000091.5(COL4A3):c.4234G>C (p.Gly1412Arg)
|
|
|
NM_000091.5(COL4A3):c.4235G>C (p.Gly1412Ala)
|
rs2073446714
|
|
NM_000091.5(COL4A3):c.4252+12G>A
|
|
|
NM_000091.5(COL4A3):c.4252+13C>T
|
|
|
NM_000091.5(COL4A3):c.4253-18_4283del
|
rs2073564905
|
|
NM_000091.5(COL4A3):c.4253-1G>A
|
|
|
NM_000091.5(COL4A3):c.4253-51G>A
|
rs73993953
|
|
NM_000091.5(COL4A3):c.4253-5del
|
rs779835160
|
|
NM_000091.5(COL4A3):c.4253-5dup
|
|
|
NM_000091.5(COL4A3):c.4253-7T>C
|
|
|
NM_000091.5(COL4A3):c.4253-9T>C
|
|
|
NM_000091.5(COL4A3):c.4255C>A (p.Pro1419Thr)
|
rs2073566607
|
|
NM_000091.5(COL4A3):c.4265C>G (p.Ser1422Ter)
|
rs2106283830
|
|
NM_000091.5(COL4A3):c.4265_4273del (p.Ser1422_Gly1424del)
|
|
|
NM_000091.5(COL4A3):c.4279G>C (p.Gly1427Arg)
|
rs2106283874
|
|
NM_000091.5(COL4A3):c.4281T>C (p.Gly1427=)
|
|
|
NM_000091.5(COL4A3):c.4290A>G (p.Gly1430=)
|
|
|
NM_000091.5(COL4A3):c.4296T>C (p.Arg1432=)
|
|
|
NM_000091.5(COL4A3):c.4307G>A (p.Gly1436Glu)
|
|
|
NM_000091.5(COL4A3):c.4308A>G (p.Gly1436=)
|
rs922824291
|
|
NM_000091.5(COL4A3):c.4311A>G (p.Ser1437=)
|
|
|
NM_000091.5(COL4A3):c.4314T>A (p.Pro1438=)
|
|
|
NM_000091.5(COL4A3):c.4314T>G (p.Pro1438=)
|
|
|
NM_000091.5(COL4A3):c.4316C>G (p.Ala1439Gly)
|
|
|
NM_000091.5(COL4A3):c.4317A>G (p.Ala1439=)
|
|
|
NM_000091.5(COL4A3):c.4320C>G (p.Thr1440=)
|
|
|
NM_000091.5(COL4A3):c.4324A>G (p.Thr1442Ala)
|
|
|
NM_000091.5(COL4A3):c.4326_4328del (p.Thr1443del)
|
rs941454321
|
|
NM_000091.5(COL4A3):c.4329G>T (p.Thr1443=)
|
|
|
NM_000091.5(COL4A3):c.4337_4338del (p.Phe1446fs)
|
rs776244020
|
|
NM_000091.5(COL4A3):c.4347_4353del (p.Arg1450fs)
|
rs748026887
|
|
NM_000091.5(COL4A3):c.4353C>A (p.His1451Gln)
|
rs886551469
|
|
NM_000091.5(COL4A3):c.4374T>G (p.Pro1458=)
|
|
|
NM_000091.5(COL4A3):c.4377A>G (p.Ser1459=)
|
|
|
NM_000091.5(COL4A3):c.4381C>A (p.Pro1461Thr)
|
rs767367726
|
|
NM_000091.5(COL4A3):c.4386G>A (p.Glu1462=)
|
rs2073573869
|
|
NM_000091.5(COL4A3):c.4389G>C (p.Gly1463=)
|
|
|
NM_000091.5(COL4A3):c.438C>T (p.Ile146=)
|
|
|
NM_000091.5(COL4A3):c.4395G>A (p.Val1465=)
|
rs762966676
|
|
NM_000091.5(COL4A3):c.4398A>T (p.Pro1466=)
|
|
|
NM_000091.5(COL4A3):c.4403A>T (p.Tyr1468Phe)
|
rs2106284497
|
|
NM_000091.5(COL4A3):c.440C>T (p.Pro147Leu)
|
|
|
NM_000091.5(COL4A3):c.441+150G>T
|
rs10168567
|
|
NM_000091.5(COL4A3):c.441+15C>G
|
|
|
NM_000091.5(COL4A3):c.441+15C>T
|
|
|
NM_000091.5(COL4A3):c.441+2T>C
|
rs2125911950
|
|
NM_000091.5(COL4A3):c.4410G>A (p.Gly1470=)
|
rs899375646
|
|
NM_000091.5(COL4A3):c.4410del (p.Ser1472fs)
|
rs1559922416
|
|
NM_000091.5(COL4A3):c.442-4C>T
|
rs759312887
|
|
NM_000091.5(COL4A3):c.442-7T>C
|
|
|
NM_000091.5(COL4A3):c.4420_4424del (p.Leu1474fs)
|
rs1445615417
|
|
NM_000091.5(COL4A3):c.4425dup (p.Val1476fs)
|
rs2106284607
|
|
NM_000091.5(COL4A3):c.4428A>T (p.Val1476=)
|
|
|
NM_000091.5(COL4A3):c.4442G>A (p.Arg1481Gln)
|
|
|
NM_000091.5(COL4A3):c.4450G>T (p.Gly1484Ter)
|
|
|
NM_000091.5(COL4A3):c.4452A>C (p.Gly1484=)
|
rs576773540
|
|
NM_000091.5(COL4A3):c.4452A>G (p.Gly1484=)
|
|
|
NM_000091.5(COL4A3):c.4458C>T (p.Asp1486=)
|
|
|
NM_000091.5(COL4A3):c.4459C>A (p.Leu1487Ile)
|
|
|
NM_000091.5(COL4A3):c.4462+11A>G
|
|
|
NM_000091.5(COL4A3):c.4462+11A>T
|
|
|
NM_000091.5(COL4A3):c.4462+12G>A
|
rs2106284798
|
|
NM_000091.5(COL4A3):c.4462+14_4462+19del
|
|
|
NM_000091.5(COL4A3):c.4462+19T>C
|
|
|
NM_000091.5(COL4A3):c.4462+19T>G
|
|
|
NM_000091.5(COL4A3):c.4462+9C>G
|
rs2106284779
|
|
NM_000091.5(COL4A3):c.4463-11T>C
|
|
|
NM_000091.5(COL4A3):c.4463-16T>C
|
|
|
NM_000091.5(COL4A3):c.4463-18A>G
|
|
|
NM_000091.5(COL4A3):c.4463-18dup
|
|
|
NM_000091.5(COL4A3):c.4463-222C>T
|
rs115532542
|
|
NM_000091.5(COL4A3):c.4470T>C (p.Leu1490=)
|
|
|
NM_000091.5(COL4A3):c.4474A>T (p.Ser1492Cys)
|
rs1057519377
|
|
NM_000091.5(COL4A3):c.4477dup (p.Cys1493fs)
|
|
|
NM_000091.5(COL4A3):c.447T>G (p.Ala149=)
|
|
|
NM_000091.5(COL4A3):c.4483C>T (p.Gln1495Ter)
|
|
|
NM_000091.5(COL4A3):c.4487G>A (p.Arg1496Gln)
|
|
|
NM_000091.5(COL4A3):c.448del (p.Ala150fs)
|
|
|
NM_000091.5(COL4A3):c.4501C>T (p.Pro1501Ser)
|
rs1195144676
|
|
NM_000091.5(COL4A3):c.4502C>A (p.Pro1501Gln)
|
rs1553766363
|
|
NM_000091.5(COL4A3):c.4509A>G (p.Leu1503=)
|
rs2106288146
|
|
NM_000091.5(COL4A3):c.4524T>C (p.Asn1508=)
|
rs2106288248
|
|
NM_000091.5(COL4A3):c.4527T>C (p.Asp1509=)
|
rs2106288256
|
|
NM_000091.5(COL4A3):c.4531_4534del (p.Cys1511fs)
|
|
|
NM_000091.5(COL4A3):c.4542A>C (p.Ala1514=)
|
|
|
NM_000091.5(COL4A3):c.4542A>G (p.Ala1514=)
|
rs1438859903
|
|
NM_000091.5(COL4A3):c.4546C>T (p.Arg1516Ter)
|
rs759873621
|
|
NM_000091.5(COL4A3):c.4552G>C (p.Asp1518His)
|
rs1559923319
|
|
NM_000091.5(COL4A3):c.4560A>G (p.Ser1520=)
|
rs2106288347
|
|
NM_000091.5(COL4A3):c.4560A>T (p.Ser1520=)
|
|
|
NM_000091.5(COL4A3):c.4569G>A (p.Leu1523=)
|
rs2106288372
|
|
NM_000091.5(COL4A3):c.4571C>G (p.Ser1524Ter)
|
rs121912825
|
|
NM_000091.5(COL4A3):c.4584G>T (p.Leu1528=)
|
rs2073631640
|
|
NM_000091.5(COL4A3):c.4586T>C (p.Met1529Thr)
|
|
|
NM_000091.5(COL4A3):c.4589del (p.Pro1530fs)
|
|
|
NM_000091.5(COL4A3):c.4596C>T (p.Asn1532=)
|
rs2106288483
|
|
NM_000091.5(COL4A3):c.4608T>C (p.Ile1536=)
|
rs2106288551
|
|
NM_000091.5(COL4A3):c.4614C>G (p.Gly1538=)
|
|
|
NM_000091.5(COL4A3):c.4614C>T (p.Gly1538=)
|
|
|
NM_000091.5(COL4A3):c.4640+18T>C
|
|
|
NM_000091.5(COL4A3):c.4640+1G>A
|
rs1553766404
|
|
NM_000091.5(COL4A3):c.4640_4640+11del
|
rs2106288671
|
|
NM_000091.5(COL4A3):c.4641-10C>G
|
|
|
NM_000091.5(COL4A3):c.4641-10C>T
|
rs372750433
|
|
NM_000091.5(COL4A3):c.4641-16T>C
|
|
|
NM_000091.5(COL4A3):c.4641-17T>C
|
|
|
NM_000091.5(COL4A3):c.4641-20G>A
|
|
|
NM_000091.5(COL4A3):c.4641-7G>A
|
|
|
NM_000091.5(COL4A3):c.4641-8T>C
|
|
|
NM_000091.5(COL4A3):c.4641-9A>G
|
|
|
NM_000091.5(COL4A3):c.4644C>A (p.Cys1548Ter)
|
rs1574842143
|
|
NM_000091.5(COL4A3):c.4644C>T (p.Cys1548=)
|
rs1574842143
|
|
NM_000091.5(COL4A3):c.4647T>A (p.Thr1549=)
|
|
|
NM_000091.5(COL4A3):c.4650_4653del (p.Cys1551fs)
|
|
|
NM_000091.5(COL4A3):c.4661C>G (p.Pro1554Arg)
|
rs1221621618
|
|
NM_000091.5(COL4A3):c.4664C>T (p.Ala1555Val)
|
rs369575989
|
|
NM_000091.5(COL4A3):c.4665G>T (p.Ala1555=)
|
rs200858199
|
|
NM_000091.5(COL4A3):c.4669G>C (p.Ala1557Pro)
|
|
|
NM_000091.5(COL4A3):c.466A>T (p.Lys156Ter)
|
|
|
NM_000091.5(COL4A3):c.467del (p.Lys156fs)
|
rs2125914087
|
|
NM_000091.5(COL4A3):c.468+10T>A
|
rs760951747
|
|
NM_000091.5(COL4A3):c.468+10T>G
|
rs760951747
|
|
NM_000091.5(COL4A3):c.468+16A>G
|
|
|
NM_000091.5(COL4A3):c.468+17A>C
|
|
|
NM_000091.5(COL4A3):c.4683C>T (p.His1561=)
|
rs2106289402
|
|
NM_000091.5(COL4A3):c.469-11T>G
|
|
|
NM_000091.5(COL4A3):c.469-11del
|
|
|
NM_000091.5(COL4A3):c.469-12T>C
|
|
|
NM_000091.5(COL4A3):c.469-12_469-10del
|
|
|
NM_000091.5(COL4A3):c.469-17A>G
|
|
|
NM_000091.5(COL4A3):c.469-20T>A
|
|
|
NM_000091.5(COL4A3):c.469-2A>G
|
rs2125916202
|
|
NM_000091.5(COL4A3):c.469-4C>T
|
rs758949595
|
|
NM_000091.5(COL4A3):c.469-7T>G
|
|
|
NM_000091.5(COL4A3):c.469-9A>G
|
rs1016662285
|
|
NM_000091.5(COL4A3):c.4698C>T (p.Asp1566=)
|
rs2106289445
|
|
NM_000091.5(COL4A3):c.4701del (p.Pro1568fs)
|
rs2106289464
|
|
NM_000091.5(COL4A3):c.4722G>A (p.Trp1574Ter)
|
|
|
NM_000091.5(COL4A3):c.4738G>T (p.Gly1580Ter)
|
|
|
NM_000091.5(COL4A3):c.474T>C (p.Ala158=)
|
rs2125916217
|
|
NM_000091.5(COL4A3):c.4755+12A>G
|
|
|
NM_000091.5(COL4A3):c.4755+145_4755+148del
|
rs34134749
|
|
NM_000091.5(COL4A3):c.4755+14del
|
|
|
NM_000091.5(COL4A3):c.4755+19G>C
|
|
|
NM_000091.5(COL4A3):c.4756-10del
|
|
|
NM_000091.5(COL4A3):c.4756-16T>A
|
|
|
NM_000091.5(COL4A3):c.4756-17T>G
|
|
|
NM_000091.5(COL4A3):c.4756-18T>A
|
|
|
NM_000091.5(COL4A3):c.4756-4G>A
|
rs2106294574
|
|
NM_000091.5(COL4A3):c.4756-67del
|
rs11343703
|
|
NM_000091.5(COL4A3):c.4756-7G>A
|
rs2106294562
|
|
NM_000091.5(COL4A3):c.4756-9T>C
|
|
|
NM_000091.5(COL4A3):c.4777G>A (p.Gly1593Ser)
|
|
|
NM_000091.5(COL4A3):c.4778G>T (p.Gly1593Val)
|
|
|
NM_000091.5(COL4A3):c.4779C>G (p.Gly1593=)
|
|
|
NM_000091.5(COL4A3):c.4781C>G (p.Thr1594Ser)
|
rs760284809
|
|
NM_000091.5(COL4A3):c.4791A>C (p.Ala1597=)
|
rs765140857
|
|
NM_000091.5(COL4A3):c.4800C>A (p.Ser1600=)
|
|
|
NM_000091.5(COL4A3):c.4802del (p.Pro1601fs)
|
rs867868993
|
|
NM_000091.5(COL4A3):c.4806C>A (p.Gly1602=)
|
|
|
NM_000091.5(COL4A3):c.4812C>G (p.Cys1604Trp)
|
rs1064796314
|
|
NM_000091.5(COL4A3):c.4825C>A (p.Arg1609=)
|
rs756231749
|
|
NM_000091.5(COL4A3):c.4825del (p.Arg1609fs)
|
rs2073715263
|
|
NM_000091.5(COL4A3):c.4830C>T (p.Ala1610=)
|
rs2106294869
|
|
NM_000091.5(COL4A3):c.4833C>T (p.Ser1611=)
|
rs2106294877
|
|
NM_000091.5(COL4A3):c.4862C>T (p.Thr1621Met)
|
|
|
NM_000091.5(COL4A3):c.486A>G (p.Glu162=)
|
rs555907134
|
|
NM_000091.5(COL4A3):c.4872C>T (p.Tyr1624=)
|
rs1351781261
|
|
NM_000091.5(COL4A3):c.4882T>G (p.Ser1628Ala)
|
rs773905198
|
|
NM_000091.5(COL4A3):c.4887del (p.Ser1628_Tyr1629insTer)
|
|
|
NM_000091.5(COL4A3):c.4890T>C (p.Ser1630=)
|
|
|
NM_000091.5(COL4A3):c.4914A>G (p.Pro1638=)
|
rs2073718230
|
|
NM_000091.5(COL4A3):c.4917A>G (p.Glu1639=)
|
rs2106295129
|
|
NM_000091.5(COL4A3):c.4918A>T (p.Arg1640Ter)
|
|
|
NM_000091.5(COL4A3):c.4925T>C (p.Phe1642Ser)
|
rs2106295148
|
|
NM_000091.5(COL4A3):c.4928+13C>T
|
|
|
NM_000091.5(COL4A3):c.4928+15T>C
|
|
|
NM_000091.5(COL4A3):c.4928+16C>A
|
|
|
NM_000091.5(COL4A3):c.4928+18A>G
|
|
|
NM_000091.5(COL4A3):c.4928+19G>A
|
|
|
NM_000091.5(COL4A3):c.4928+1G>T
|
|
|
NM_000091.5(COL4A3):c.4928+7A>C
|
rs764806404
|
|
NM_000091.5(COL4A3):c.4928+7_4928+8insG
|
|
|
NM_000091.5(COL4A3):c.4928+8T>G
|
|
|
NM_000091.5(COL4A3):c.4928G>A (p.Arg1643Lys)
|
rs2106295155
|
|
NM_000091.5(COL4A3):c.4929-13G>A
|
rs745406223
|
|
NM_000091.5(COL4A3):c.4929-17G>A
|
|
|
NM_000091.5(COL4A3):c.4929-18G>T
|
|
|
NM_000091.5(COL4A3):c.4929-388G>A
|
|
|
NM_000091.5(COL4A3):c.4929-4T>C
|
|
|
NM_000091.5(COL4A3):c.4929-8T>C
|
rs2106297814
|
|
NM_000091.5(COL4A3):c.4929-8dup
|
|
|
NM_000091.5(COL4A3):c.4929A>T (p.Arg1643Ser)
|
|
|
NM_000091.5(COL4A3):c.4938T>A (p.Ile1646=)
|
rs2106297857
|
|
NM_000091.5(COL4A3):c.4938del (p.Pro1647fs)
|
|
|
NM_000091.5(COL4A3):c.4941A>G (p.Pro1647=)
|
rs2106297865
|
|
NM_000091.5(COL4A3):c.4972dup (p.Ile1658fs)
|
rs2073752422
|
|
NM_000091.5(COL4A3):c.4973del (p.Ile1658fs)
|
rs2106297951
|
|
NM_000091.5(COL4A3):c.4982G>C (p.Arg1661Pro)
|
|
|
NM_000091.5(COL4A3):c.4983C>T (p.Arg1661=)
|
rs1574846186
|
|
NM_000091.5(COL4A3):c.4985G>A (p.Cys1662Tyr)
|
rs1339780318
|
|
NM_000091.5(COL4A3):c.4993T>A (p.Cys1665Ser)
|
rs2106298115
|
|
NM_000091.5(COL4A3):c.5010_*14del (p.His1670_Ter1671delinsXaa)
|
rs765655100
|
|
NM_000091.5(COL4A3):c.501T>C (p.Leu167=)
|
rs2125916323
|
|
NM_000091.5(COL4A3):c.520G>T (p.Gly174Trp)
|
rs1014839148
|
|
NM_000091.5(COL4A3):c.522dup (p.Leu175fs)
|
rs761358728
|
|
NM_000091.5(COL4A3):c.524T>A (p.Leu175Ter)
|
|
|
NM_000091.5(COL4A3):c.531G>A (p.Gly177=)
|
|
|
NM_000091.5(COL4A3):c.547-11T>C
|
|
|
NM_000091.5(COL4A3):c.547-12C>T
|
|
|
NM_000091.5(COL4A3):c.547-13T>C
|
|
|
NM_000091.5(COL4A3):c.547-14C>A
|
|
|
NM_000091.5(COL4A3):c.547-1G>T
|
rs1240347743
|
|
NM_000091.5(COL4A3):c.547-20A>C
|
|
|
NM_000091.5(COL4A3):c.547-20A>G
|
|
|
NM_000091.5(COL4A3):c.547-2A>G
|
rs2125924465
|
|
NM_000091.5(COL4A3):c.547-6T>G
|
|
|
NM_000091.5(COL4A3):c.549T>A (p.Gly183=)
|
|
|
NM_000091.5(COL4A3):c.558C>T (p.Gly186=)
|
|
|
NM_000091.5(COL4A3):c.560_563del (p.Pro187fs)
|
rs749348004
|
|
NM_000091.5(COL4A3):c.565G>C (p.Gly189Arg)
|
rs1574690720
|
|
NM_000091.5(COL4A3):c.567T>A (p.Gly189=)
|
rs2125924539
|
|
NM_000091.5(COL4A3):c.582T>C (p.Val194=)
|
rs1431345344
|
|
NM_000091.5(COL4A3):c.585C>A (p.Gly195=)
|
|
|
NM_000091.5(COL4A3):c.588A>G (p.Pro196=)
|
|
|
NM_000091.5(COL4A3):c.604T>C (p.Phe202Leu)
|
|
|
NM_000091.5(COL4A3):c.609+17C>A
|
|
|
NM_000091.5(COL4A3):c.609+19T>C
|
|
|
NM_000091.5(COL4A3):c.609+2_609+3del
|
|
|
NM_000091.5(COL4A3):c.609+9C>G
|
rs1359283932
|
|
NM_000091.5(COL4A3):c.610-11G>A
|
rs566045388
|
|
NM_000091.5(COL4A3):c.610-13T>C
|
|
|
NM_000091.5(COL4A3):c.610-16T>C
|
|
|
NM_000091.5(COL4A3):c.610-18A>G
|
|
|
NM_000091.5(COL4A3):c.610-1G>C
|
|
|
NM_000091.5(COL4A3):c.610-5dup
|
rs1393665104
|
|
NM_000091.5(COL4A3):c.632C>G (p.Pro211Arg)
|
rs2125925060
|
|
NM_000091.5(COL4A3):c.637G>A (p.Gly213Arg)
|
rs1553752192
|
|
NM_000091.5(COL4A3):c.645+12T>C
|
|
|
NM_000091.5(COL4A3):c.645+14C>T
|
|
|
NM_000091.5(COL4A3):c.645+17A>G
|
|
|
NM_000091.5(COL4A3):c.645+2T>C
|
rs1553752199
|
|
NM_000091.5(COL4A3):c.646-12G>A
|
|
|
NM_000091.5(COL4A3):c.646-13T>G
|
|
|
NM_000091.5(COL4A3):c.646-14G>A
|
|
|
NM_000091.5(COL4A3):c.646-16T>C
|
|
|
NM_000091.5(COL4A3):c.646-20G>A
|
|
|
NM_000091.5(COL4A3):c.646-20G>T
|
|
|
NM_000091.5(COL4A3):c.646G>A (p.Gly216Ser)
|
|
|
NM_000091.5(COL4A3):c.646G>T (p.Gly216Cys)
|
rs1169752185
|
|
NM_000091.5(COL4A3):c.663_664del (p.Arg221fs)
|
rs1469479748
|
|
NM_000091.5(COL4A3):c.669A>C (p.Ile223=)
|
|
|
NM_000091.5(COL4A3):c.685C>A (p.Arg229=)
|
|
|
NM_000091.5(COL4A3):c.686G>A (p.Arg229Gln)
|
|
|
NM_000091.5(COL4A3):c.686G>T (p.Arg229Leu)
|
rs188942711
|
|
NM_000091.5(COL4A3):c.687+13C>T
|
|
|
NM_000091.5(COL4A3):c.687+15A>G
|
|
|
NM_000091.5(COL4A3):c.687+17G>A
|
|
|
NM_000091.5(COL4A3):c.687+1G>T
|
rs2069903710
|
|
NM_000091.5(COL4A3):c.687+20T>C
|
|
|
NM_000091.5(COL4A3):c.687+8A>T
|
rs2125931506
|
|
NM_000091.5(COL4A3):c.688-11T>C
|
|
|
NM_000091.5(COL4A3):c.688-16G>A
|
|
|
NM_000091.5(COL4A3):c.688-17_688-14del
|
|
|
NM_000091.5(COL4A3):c.688-18G>A
|
|
|
NM_000091.5(COL4A3):c.688-1G>A
|
rs2069929443
|
|
NM_000091.5(COL4A3):c.688-4T>C
|
|
|
NM_000091.5(COL4A3):c.688-6C>A
|
rs778234156
|
|
NM_000091.5(COL4A3):c.688-6C>G
|
rs778234156
|
|
NM_000091.5(COL4A3):c.688-6C>T
|
|
|
NM_000091.5(COL4A3):c.688-7T>C
|
rs754512121
|
|
NM_000091.5(COL4A3):c.688-8G>A
|
|
|
NM_000091.5(COL4A3):c.688-8G>C
|
|
|
NM_000091.5(COL4A3):c.688G>A (p.Gly230Ser)
|
rs2125932297
|
|
NM_000091.5(COL4A3):c.692T>C (p.Val231Ala)
|
|
|
NM_000091.5(COL4A3):c.693G>C (p.Val231=)
|
|
|
NM_000091.5(COL4A3):c.693G>T (p.Val231=)
|
rs771560014
|
|
NM_000091.5(COL4A3):c.705A>T (p.Thr235=)
|
|
|
NM_000091.5(COL4A3):c.706G>A (p.Gly236Arg)
|
rs2069931154
|
|
NM_000091.5(COL4A3):c.711C>T (p.Pro237=)
|
rs977822540
|
|
NM_000091.5(COL4A3):c.712C>T (p.Pro238Ser)
|
|
|
NM_000091.5(COL4A3):c.713C>T (p.Pro238Leu)
|
rs776059644
|
|
NM_000091.5(COL4A3):c.713del (p.Pro238fs)
|
rs988439345
|
|
NM_000091.5(COL4A3):c.716G>C (p.Gly239Ala)
|
rs1574699782
|
|
NM_000091.5(COL4A3):c.726A>G (p.Gly242=)
|
|
|
NM_000091.5(COL4A3):c.734T>C (p.Ile245Thr)
|
|
|
NM_000091.5(COL4A3):c.750C>G (p.Gly250=)
|
rs1161472573
|
|
NM_000091.5(COL4A3):c.750C>T (p.Gly250=)
|
rs1161472573
|
|
NM_000091.5(COL4A3):c.756T>C (p.Asp252=)
|
rs1412919917
|
|
NM_000091.5(COL4A3):c.765+11G>A
|
|
|
NM_000091.5(COL4A3):c.765+12A>C
|
|
|
NM_000091.5(COL4A3):c.765+18T>A
|
|
|
NM_000091.5(COL4A3):c.765+7C>G
|
rs2125932693
|
|
NM_000091.5(COL4A3):c.765+7_765+8del
|
rs761303705
|
|
NM_000091.5(COL4A3):c.765+8T>C
|
rs758131428
|
|
NM_000091.5(COL4A3):c.765G>C (p.Thr255=)
|
|
|
NM_000091.5(COL4A3):c.766-10T>C
|
rs1574701525
|
|
NM_000091.5(COL4A3):c.766-12T>C
|
|
|
NM_000091.5(COL4A3):c.766-14del
|
|
|
NM_000091.5(COL4A3):c.766-20T>C
|
|
|
NM_000091.5(COL4A3):c.766-229dup
|
rs375929929
|
|
NM_000091.5(COL4A3):c.766-2A>G
|
rs2069985189
|
|
NM_000091.5(COL4A3):c.766-5G>A
|
rs751236477
|
|
NM_000091.5(COL4A3):c.766-5G>C
|
rs751236477
|
|
NM_000091.5(COL4A3):c.766-6T>C
|
rs1488190264
|
|
NM_000091.5(COL4A3):c.766-6T>G
|
rs1488190264
|
|
NM_000091.5(COL4A3):c.766-7T>A
|
|
|
NM_000091.5(COL4A3):c.766-7T>C
|
rs777532605
|
|
NM_000091.5(COL4A3):c.766-9C>A
|
|
|
NM_000091.5(COL4A3):c.777G>C (p.Gly259=)
|
|
|
NM_000091.5(COL4A3):c.778dup (p.Glu260fs)
|
rs2125934511
|
|
NM_000091.5(COL4A3):c.789C>G (p.Asp263Glu)
|
rs779821655
|
|
NM_000091.5(COL4A3):c.789C>T (p.Asp263=)
|
rs779821655
|
|
NM_000091.5(COL4A3):c.793G>A (p.Gly265Arg)
|
rs374787000
|
|
NM_000091.5(COL4A3):c.794G>A (p.Gly265Glu)
|
rs2069988351
|
|
NM_000091.5(COL4A3):c.794G>T (p.Gly265Val)
|
|
|
NM_000091.5(COL4A3):c.804C>T (p.Gly268=)
|
|
|
NM_000091.5(COL4A3):c.807G>A (p.Glu269=)
|
|
|
NM_000091.5(COL4A3):c.810T>C (p.Pro270=)
|
rs2125934642
|
|
NM_000091.5(COL4A3):c.815C>T (p.Pro272Leu)
|
|
|
NM_000091.5(COL4A3):c.819T>C (p.Pro273=)
|
|
|
NM_000091.5(COL4A3):c.824C>T (p.Pro275Leu)
|
|
|
NM_000091.5(COL4A3):c.825dup (p.Ser276fs)
|
|
|
NM_000091.5(COL4A3):c.828+15G>C
|
|
|
NM_000091.5(COL4A3):c.828+17T>C
|
|
|
NM_000091.5(COL4A3):c.828+19T>A
|
|
|
NM_000091.5(COL4A3):c.828+1G>C
|
rs2125934710
|
|
NM_000091.5(COL4A3):c.828+226G>C
|
rs112377228
|
|
NM_000091.5(COL4A3):c.828+2T>C
|
rs1490688611
|
|
NM_000091.5(COL4A3):c.828+95_828+96dup
|
rs11412904
|
|
NM_000091.5(COL4A3):c.828+96del
|
rs11412904
|
|
NM_000091.5(COL4A3):c.828+96dup
|
rs11412904
|
|
NM_000091.5(COL4A3):c.829-13C>G
|
|
|
NM_000091.5(COL4A3):c.829-15C>G
|
rs201021733
|
|
NM_000091.5(COL4A3):c.829-18T>A
|
|
|
NM_000091.5(COL4A3):c.829-18T>C
|
|
|
NM_000091.5(COL4A3):c.829-19A>G
|
|
|
NM_000091.5(COL4A3):c.829-2A>C
|
rs1553753119
|
|
NM_000091.5(COL4A3):c.829-2A>G
|
|
|
NM_000091.5(COL4A3):c.829-5T>C
|
rs1574703426
|
|
NM_000091.5(COL4A3):c.833dup (p.Pro279fs)
|
rs1363680371
|
|
NM_000091.5(COL4A3):c.834G>T (p.Leu278=)
|
|
|
NM_000091.5(COL4A3):c.861G>A (p.Lys287=)
|
|
|
NM_000091.5(COL4A3):c.863G>T (p.Gly288Val)
|
rs2070037317
|
|
NM_000091.5(COL4A3):c.864del (p.Ala289fs)
|
rs2125936439
|
|
NM_000091.5(COL4A3):c.872G>A (p.Gly291Glu)
|
rs1425230568
|
|
NM_000091.5(COL4A3):c.88-18C>G
|
|
|
NM_000091.5(COL4A3):c.88-18C>T
|
|
|
NM_000091.5(COL4A3):c.88-19T>G
|
|
|
NM_000091.5(COL4A3):c.88-27_88-19del
|
|
|
NM_000091.5(COL4A3):c.88-5976_195del
|
|
|
NM_000091.5(COL4A3):c.881G>A (p.Gly294Asp)
|
rs1553753137
|
|
NM_000091.5(COL4A3):c.883C>T (p.Leu295=)
|
|
|
NM_000091.5(COL4A3):c.884T>G (p.Leu295Arg)
|
rs2125936511
|
|
NM_000091.5(COL4A3):c.885G>A (p.Leu295=)
|
rs2070039487
|
|
NM_000091.5(COL4A3):c.888+10G>C
|
|
|
NM_000091.5(COL4A3):c.888+1G>A
|
rs2125936534
|
|
NM_000091.5(COL4A3):c.888+20G>A
|
|
|
NM_000091.5(COL4A3):c.888+220C>G
|
rs59354201
|
|
NM_000091.5(COL4A3):c.888+7T>G
|
|
|
NM_000091.5(COL4A3):c.889-12T>C
|
|
|
NM_000091.5(COL4A3):c.889-314T>G
|
rs114708905
|
|
NM_000091.5(COL4A3):c.889-3T>A
|
|
|
NM_000091.5(COL4A3):c.889-4G>A
|
|
|
NM_000091.5(COL4A3):c.889-5T>C
|
|
|
NM_000091.5(COL4A3):c.889-8T>C
|
|
|
NM_000091.5(COL4A3):c.88G>C (p.Gly30Arg)
|
rs1559854632
|
|
NM_000091.5(COL4A3):c.894del (p.Lys298fs)
|
rs2070145822
|
|
NM_000091.5(COL4A3):c.894dup (p.Pro299fs)
|
rs2070145822
|
|
NM_000091.5(COL4A3):c.898G>T (p.Gly300Ter)
|
rs772708743
|
|
NM_000091.5(COL4A3):c.903A>G (p.Lys301=)
|
rs948051529
|
|
NM_000091.5(COL4A3):c.906T>C (p.Asp302=)
|
rs760256439
|
|
NM_000091.5(COL4A3):c.912T>C (p.Val304=)
|
|
|
NM_000091.5(COL4A3):c.921C>T (p.Phe307=)
|
|
|
NM_000091.5(COL4A3):c.92_95dup (p.Lys34fs)
|
rs1385106410
|
|
NM_000091.5(COL4A3):c.933+1G>A
|
|
|
NM_000091.5(COL4A3):c.933+4T>C
|
|
|
NM_000091.5(COL4A3):c.933+7A>G
|
rs2125940650
|
|
NM_000091.5(COL4A3):c.933+8G>A
|
|
|
NM_000091.5(COL4A3):c.933+9T>A
|
|
|
NM_000091.5(COL4A3):c.934-10T>C
|
rs1438848804
|
|
NM_000091.5(COL4A3):c.934-11C>A
|
|
|
NM_000091.5(COL4A3):c.934-15T>G
|
|
|
NM_000091.5(COL4A3):c.934-16T>C
|
|
|
NM_000091.5(COL4A3):c.934-7_934-3del
|
|
|
NM_000091.5(COL4A3):c.945C>A (p.Gly315=)
|
|
|
NM_000091.5(COL4A3):c.951G>A (p.Arg317=)
|
|
|
NM_000091.5(COL4A3):c.953G>A (p.Gly318Asp)
|
rs1559872489
|
|
NM_000091.5(COL4A3):c.960T>C (p.Pro320=)
|
|
|
NM_000091.5(COL4A3):c.960T>G (p.Pro320=)
|
|
|
NM_000091.5(COL4A3):c.967_968dup (p.Met323fs)
|
rs2125941952
|
|
NM_000091.5(COL4A3):c.96C>T (p.Val32=)
|
|
|
NM_000091.5(COL4A3):c.978T>C (p.Asp326=)
|
rs1385977091
|
|
NM_000091.5(COL4A3):c.979G>T (p.Gly327Cys)
|
|
|
NM_000091.5(COL4A3):c.981C>T (p.Gly327=)
|
|
|
NM_000091.5(COL4A3):c.984T>A (p.Ile328=)
|
|
|
NM_000091.5(COL4A3):c.987+15A>G
|
|
|
NM_000091.5(COL4A3):c.987+16A>G
|
|
|
NM_000091.5(COL4A3):c.988-17A>T
|
|
|
NM_000091.5(COL4A3):c.988-5T>C
|
rs2125946916
|
|
NM_000091.5(COL4A3):c.988-7A>G
|
rs2125946900
|
|
NM_000091.5(COL4A3):c.988G>C (p.Gly330Arg)
|
|
|
NM_000091.5(COL4A3):c.997G>A (p.Gly333Arg)
|
rs761819520
|
|
NM_000091.5(COL4A3):c.998G>A (p.Gly333Glu)
|
|
|
NM_000091.5(COL4A3):c.999G>A (p.Gly333=)
|
rs905664688
|
|
NM_000091.5(COL4A3):c.999G>C (p.Gly333=)
|
|
|
NM_000091.5(COL4A3):c.99T>C (p.Cys33=)
|
|
|