ClinVar Miner

List of variants in gene combination COL4A3, MFF-DT studied for not provided

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Gene type:
ClinVar version:
Total variants: 2080
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HGVS dbSNP gnomAD frequency
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=)

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