ClinVar Miner

List of variants studied for Alport syndrome by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 441
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HGVS dbSNP gnomAD frequency
NM_000091.5(COL4A3):c.*2194A>C rs7567291 0.99998
NM_000091.5(COL4A3):c.*2059C>G rs4290648 0.93201
NM_000091.5(COL4A3):c.*1239C>G rs10188531 0.93197
NM_000091.5(COL4A3):c.*893C>T rs7587228 0.86904
NM_000091.5(COL4A3):c.485A>G (p.Glu162Gly) rs6436669 0.77323
NM_000091.5(COL4A3):c.422T>C (p.Leu141Pro) rs10178458 0.77314
NM_000091.5(COL4A3):c.*315A>C rs2070735 0.77289
NM_000091.5(COL4A3):c.1195C>T (p.Leu399=) rs10205042 0.72668
NM_000092.5(COL4A4):c.4548A>G (p.Val1516=) rs2228555 0.57766
NM_000092.5(COL4A4):c.3011C>T (p.Pro1004Leu) rs1800517 0.51043
NM_000092.5(COL4A4):c.1444C>T (p.Pro482Ser) rs2229814 0.51006
NM_000092.5(COL4A4):c.*4322C>T rs1054413 0.50051
NM_000092.5(COL4A4):c.4207T>C (p.Ser1403Pro) rs3752895 0.49558
NM_000092.5(COL4A4):c.4523-8T>C rs13419076 0.47936
NM_000092.5(COL4A4):c.4932C>T (p.Phe1644=) rs2228557 0.47874
NM_000092.5(COL4A4):c.4080G>A (p.Pro1360=) rs2228556 0.46753
NM_000092.5(COL4A4):c.3979G>A (p.Val1327Met) rs2229813 0.46716
NM_000092.5(COL4A4):c.3817+9G>C rs13423714 0.46646
NM_000092.5(COL4A4):c.3684G>A (p.Lys1228=) rs2229812 0.46642
NM_000092.5(COL4A4):c.3594G>A (p.Gly1198=) rs10203363 0.46565
NM_000092.5(COL4A4):c.*3187G>A rs56324594 0.43204
NM_000091.5(COL4A3):c.1721C>T (p.Pro574Leu) rs28381984 0.38447
NM_000091.5(COL4A3):c.*2742C>T rs59257065 0.31211
NM_000091.5(COL4A3):c.*2652G>A rs57817160 0.30825
NM_000091.5(COL4A3):c.144+12C>A rs1882435 0.29027
NM_000091.5(COL4A3):c.*981C>T rs1134745 0.20446
NM_000091.5(COL4A3):c.*2452T>C rs4470338 0.20330
NM_000091.5(COL4A3):c.976G>T (p.Asp326Tyr) rs55703767 0.15364
NM_000092.5(COL4A4):c.-2C>T rs2228558 0.10292
NM_000092.5(COL4A4):c.17T>C (p.Ile6Thr) rs16823264 0.10047
NM_000091.5(COL4A3):c.*595A>T rs56123646 0.09853
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_000092.5(COL4A4):c.*4602C>G rs1054415 0.07424
NM_000092.5(COL4A4):c.2384-5T>C rs3769641 0.07065
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.*286C>T rs6436677 0.06341
NM_000091.5(COL4A3):c.*1663G>C rs56030607 0.06118
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.*1681A>G rs78758928 0.04750
NM_000092.5(COL4A4):c.1634G>C (p.Gly545Ala) rs1800516 0.03182
NM_000091.5(COL4A3):c.*589C>T rs55698424 0.02952
NM_000091.5(COL4A3):c.766-13G>A rs77431913 0.02920
NM_000091.5(COL4A3):c.805G>A (p.Glu269Lys) rs80109666 0.02845
NM_000092.5(COL4A4):c.948T>C (p.Tyr316=) rs34509421 0.02777
NM_000092.5(COL4A4):c.2165-15T>G rs60344965 0.02703
NM_000092.5(COL4A4):c.2276C>T (p.Pro759Leu) rs36121515 0.02697
NM_000091.5(COL4A3):c.547-9A>C rs55667591 0.02682
NM_000091.5(COL4A3):c.4041C>A (p.Asp1347Glu) rs73996414 0.02579
NM_000092.5(COL4A4):c.4041A>G (p.Leu1347=) rs16823077 0.02492
NM_000091.5(COL4A3):c.933+14T>C rs55928538 0.02412
NM_000092.5(COL4A4):c.1781A>G (p.Glu594Gly) rs35998949 0.02275
NM_000091.5(COL4A3):c.399G>A (p.Gly133=) rs75683214 0.02133
NM_000091.5(COL4A3):c.2715C>T (p.Pro905=) rs75519005 0.01995
NM_000092.5(COL4A4):c.2899A>G (p.Ile967Val) rs80243096 0.01747
NM_000092.5(COL4A4):c.*581G>A rs79659665 0.01689
NM_000092.5(COL4A4):c.3486A>G (p.Pro1162=) rs2229815 0.01659
NM_000092.5(COL4A4):c.2008G>A (p.Val670Ile) rs34236495 0.01622
NM_000092.5(COL4A4):c.2439A>T (p.Gly813=) rs34835657 0.01612
NM_000092.5(COL4A4):c.1323T>C (p.Pro441=) rs35830639 0.01576
NM_000092.5(COL4A4):c.4656G>A (p.Met1552Ile) rs77104306 0.01346
NM_000092.5(COL4A4):c.2996G>A (p.Gly999Glu) rs13027659 0.01279
NM_000092.5(COL4A4):c.1821G>A (p.Ala607=) rs114684841 0.01262
NM_000092.5(COL4A4):c.3233C>T (p.Ala1078Val) rs79143859 0.01259
NM_000092.5(COL4A4):c.2791G>A (p.Ala931Thr) rs75875272 0.01243
NM_000092.5(COL4A4):c.2796G>A (p.Lys932=) rs34591179 0.01236
NM_000092.5(COL4A4):c.-79C>T rs55836847 0.01218
NM_000092.5(COL4A4):c.2717-5A>T rs1800519 0.01182
NM_000091.5(COL4A3):c.2501A>G (p.Lys834Arg) rs56226424 0.01064
NM_000091.5(COL4A3):c.1505-11T>C rs115757151 0.00959
NM_000091.5(COL4A3):c.*1360T>A rs116377856 0.00953
NM_000092.5(COL4A4):c.*3690A>G rs149243282 0.00945
NM_000092.5(COL4A4):c.*841G>A rs11556632 0.00854
NM_000092.5(COL4A4):c.*4164C>T rs147109071 0.00850
NM_000091.5(COL4A3):c.88-4C>T rs148393022 0.00744
NM_000091.5(COL4A3):c.*1869C>A rs77842807 0.00730
NM_000091.5(COL4A3):c.*177A>G rs139638980 0.00688
NM_000092.5(COL4A4):c.198A>G (p.Pro66=) rs147947155 0.00681
NM_000092.5(COL4A4):c.666G>A (p.Pro222=) rs111945121 0.00676
NM_000092.5(COL4A4):c.*472A>T rs77268230 0.00670
NM_000092.5(COL4A4):c.*2311C>T rs77079951 0.00666
NM_000092.5(COL4A4):c.*2239T>C rs79443960 0.00664
NM_000091.5(COL4A3):c.71C>G (p.Ala24Gly) rs184704920 0.00624
NM_000091.5(COL4A3):c.*969G>A rs188150740 0.00620
NM_000092.5(COL4A4):c.3871C>G (p.Pro1291Ala) rs34728338 0.00619
NM_000091.5(COL4A3):c.*2145A>C rs115394347 0.00614
NM_000091.5(COL4A3):c.*2182C>T rs114535536 0.00613
NM_000091.5(COL4A3):c.4484A>G (p.Gln1495Arg) rs77964815 0.00573
NM_000092.5(COL4A4):c.-101-4A>G rs147186690 0.00562
NM_000092.5(COL4A4):c.*718G>C rs183147767 0.00543
NM_000092.5(COL4A4):c.2907A>C (p.Ser969=) rs116354015 0.00506
NM_000091.5(COL4A3):c.*811A>C rs116568659 0.00504
NM_000091.5(COL4A3):c.346C>A (p.Pro116Thr) rs115324397 0.00485
NM_000092.5(COL4A4):c.1833T>C (p.Gly611=) rs145806603 0.00479
NM_000092.5(COL4A4):c.*3636C>T rs147995299 0.00469
NM_000092.5(COL4A4):c.*4194C>T rs540904446 0.00467
NM_000092.5(COL4A4):c.-15T>C rs17353916 0.00433
NM_000092.5(COL4A4):c.4082-8C>T rs139571413 0.00420
NM_000092.5(COL4A4):c.*859A>C rs187539474 0.00416
NM_000091.5(COL4A3):c.3325C>T (p.Pro1109Ser) rs55816283 0.00412
NM_000091.5(COL4A3):c.3258G>A (p.Gly1086=) rs147085074 0.00385
NM_000091.5(COL4A3):c.4893C>T (p.Phe1631=) rs183218622 0.00344
NM_000092.5(COL4A4):c.50A>G (p.Lys17Arg) rs114969026 0.00341
NM_000091.5(COL4A3):c.3566-10T>C rs114719458 0.00331
NM_000092.5(COL4A4):c.2630G>A (p.Arg877Gln) rs150979437 0.00274
NM_000092.5(COL4A4):c.5016A>G (p.Glu1672=) rs34761049 0.00264
NM_000091.5(COL4A3):c.2475G>C (p.Leu825Phe) rs192027050 0.00262
NM_000092.5(COL4A4):c.4731G>A (p.Ala1577=) rs200639109 0.00257
NM_000092.5(COL4A4):c.*2962A>G rs181652003 0.00253
NM_000092.5(COL4A4):c.*857G>A rs80142712 0.00247
NM_000092.5(COL4A4):c.4152G>A (p.Ala1384=) rs75398993 0.00245
NM_000092.5(COL4A4):c.*1346T>C rs55869005 0.00228
NM_000092.5(COL4A4):c.4217-15T>C rs200926310 0.00228
NM_000091.5(COL4A3):c.-13G>C rs770803750 0.00217
NM_000091.5(COL4A3):c.4665G>A (p.Ala1555=) rs200858199 0.00210
NM_000092.5(COL4A4):c.4090+14T>C rs147376687 0.00207
NM_000091.5(COL4A3):c.*647T>G rs183552783 0.00206
NM_000092.5(COL4A4):c.2717-15C>A rs143886681 0.00199
NM_000092.5(COL4A4):c.*3269A>G rs185029960 0.00188
NM_000091.5(COL4A3):c.3566-9T>C rs147886850 0.00184
NM_000092.5(COL4A4):c.*705T>C rs150289717 0.00176
NM_000092.5(COL4A4):c.*2647C>T rs139204655 0.00161
NM_000091.5(COL4A3):c.*1322T>A rs115338903 0.00158
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.3939G>A (p.Gly1313=) rs141552752 0.00121
NM_000092.5(COL4A4):c.*4004_*4005del rs532937469 0.00119
NM_000092.4(COL4A4):c.-555G>A rs79908084 0.00118
NM_000091.5(COL4A3):c.1483C>T (p.His495Tyr) rs200510532 0.00110
NM_000091.5(COL4A3):c.222G>T (p.Pro74=) rs187950806 0.00096
NM_000092.5(COL4A4):c.*4173A>T rs529259159 0.00086
NM_000092.5(COL4A4):c.195T>C (p.Gly65=) rs201278620 0.00082
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_000092.5(COL4A4):c.2399C>G (p.Pro800Arg) rs200714000 0.00076
NM_000092.5(COL4A4):c.736-10T>G rs201175819 0.00073
NM_000091.5(COL4A3):c.*1764A>G rs577379452 0.00071
NM_000092.5(COL4A4):c.*3410_*3411del rs528949461 0.00068
NM_000092.5(COL4A4):c.*3639T>C rs193239835 0.00063
NM_000091.5(COL4A3):c.2489-8G>A rs201846272 0.00061
NM_000091.5(COL4A3):c.4494C>G (p.Thr1498=) rs200454769 0.00058
NM_000092.5(COL4A4):c.*1465T>A rs75940419 0.00058
NM_000092.5(COL4A4):c.102A>G (p.Gln34=) rs3817617 0.00056
NM_000092.5(COL4A4):c.3989C>T (p.Pro1330Leu) rs201578201 0.00054
NM_000092.5(COL4A4):c.*4545A>G rs569924185 0.00052
NM_000092.5(COL4A4):c.3654A>G (p.Pro1218=) rs369708146 0.00050
NM_000091.5(COL4A3):c.1516G>A (p.Ala506Thr) rs188967260 0.00048
NM_000091.5(COL4A3):c.829-15C>T rs201021733 0.00046
NM_000092.5(COL4A4):c.*3467C>G rs752632630 0.00046
NM_000092.5(COL4A4):c.1353C>T (p.Gly451=) rs199511948 0.00044
NM_000092.5(COL4A4):c.*1064G>C rs560936685 0.00043
NM_000092.5(COL4A4):c.1205-9A>G rs370706928 0.00043
NM_000091.5(COL4A3):c.-10C>T rs781380101 0.00039
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532 0.00039
NM_000092.5(COL4A4):c.*3712T>G rs535103151 0.00038
NM_000092.5(COL4A4):c.4349T>C (p.Ile1450Thr) rs72969704 0.00038
NM_000091.5(COL4A3):c.1505-12G>A rs114658110 0.00036
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser) rs190598500 0.00035
NM_000092.5(COL4A4):c.2877C>T (p.Pro959=) rs79470996 0.00035
NM_000091.5(COL4A3):c.*2228T>C rs367785196 0.00034
NM_000092.5(COL4A4):c.-134C>G rs530247030 0.00033
NM_000091.5(COL4A3):c.3270A>C (p.Pro1090=) rs201989155 0.00032
NM_000092.5(COL4A4):c.*1464A>T rs573508041 0.00032
NM_000092.5(COL4A4):c.3108T>C (p.Gly1036=) rs201962241 0.00030
NM_000092.5(COL4A4):c.541G>T (p.Ala181Ser) rs200707549 0.00030
NM_000092.5(COL4A4):c.*3397T>C rs531406341 0.00027
NM_000092.5(COL4A4):c.*3876G>A rs184473858 0.00026
NM_000092.5(COL4A4):c.1435G>C (p.Gly479Arg) rs202210475 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.221C>T (p.Pro74Leu) rs373975901 0.00024
NM_000091.5(COL4A3):c.4510T>C (p.Phe1504Leu) rs201671013 0.00024
NM_000092.5(COL4A4):c.*2069T>C rs886055710 0.00023
NM_000092.5(COL4A4):c.*569C>A rs772402371 0.00023
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_000092.5(COL4A4):c.2144C>T (p.Ala715Val) rs76636743 0.00021
NM_000092.5(COL4A4):c.*3948C>T rs886055703 0.00020
NM_000092.5(COL4A4):c.193-9C>G rs190570269 0.00020
NM_000091.5(COL4A3):c.-26G>T rs747049729 0.00019
NM_000092.5(COL4A4):c.*4534T>C rs767613572 0.00019
NM_000092.5(COL4A4):c.4195A>T (p.Met1399Leu) rs149117087 0.00019
NM_000092.5(COL4A4):c.4715C>T (p.Pro1572Leu) rs121912863 0.00019
NM_000092.5(COL4A4):c.4857T>C (p.Pro1619=) rs184776061 0.00017
NM_000092.5(COL4A4):c.4924C>T (p.His1642Tyr) rs200450557 0.00016
NM_000092.5(COL4A4):c.2430C>G (p.Gly810=) rs769363556 0.00015
NM_000091.5(COL4A3):c.*406G>A rs759265728 0.00014
NM_000091.5(COL4A3):c.3751+7G>A rs750554079 0.00014
NM_000092.5(COL4A4):c.*1171C>T rs545148830 0.00014
NM_000092.5(COL4A4):c.*3159C>A rs559222889 0.00014
NM_000092.5(COL4A4):c.*883C>G rs952959654 0.00014
NM_000092.5(COL4A4):c.4982T>A (p.Phe1661Tyr) rs374119389 0.00014
NM_000091.5(COL4A3):c.688-8G>T rs748843785 0.00013
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.2887G>A (p.Ala963Thr) rs200801946 0.00010
NM_000092.5(COL4A4):c.*2422T>C rs892108516 0.00010
NM_000092.5(COL4A4):c.*2945T>C rs886055707 0.00010
NM_000091.5(COL4A3):c.3196C>T (p.Pro1066Ser) rs377003650 0.00009
NM_000092.4(COL4A4):c.-641G>A rs1003987615 0.00009
NM_000092.5(COL4A4):c.15C>T (p.His5=) rs199504524 0.00009
NM_000092.5(COL4A4):c.1664C>T (p.Ala555Val) rs371066387 0.00009
NM_000092.5(COL4A4):c.2860+13C>T rs374807397 0.00008
NM_000092.5(COL4A4):c.4678C>T (p.Arg1560Cys) rs200973262 0.00008
NM_000091.5(COL4A3):c.*1639G>A rs950432432 0.00007
NM_000091.5(COL4A3):c.1802C>T (p.Pro601Leu) rs369567469 0.00007
NM_000091.5(COL4A3):c.3476G>A (p.Arg1159His) rs145948549 0.00007
NM_000092.5(COL4A4):c.*4347C>T rs190602131 0.00007
NM_000092.5(COL4A4):c.2985C>T (p.Pro995=) rs79261248 0.00007
NM_000091.5(COL4A3):c.*1000C>T rs770149608 0.00006
NM_000091.5(COL4A3):c.*1645del rs886055747 0.00006
NM_000091.5(COL4A3):c.*2180C>T rs886055749 0.00006
NM_000091.5(COL4A3):c.1256C>A (p.Ser419Tyr) rs201031986 0.00006
NM_000091.5(COL4A3):c.1576-6C>T rs202210023 0.00006
NM_000091.5(COL4A3):c.1912C>T (p.Pro638Ser) rs767174856 0.00006
NM_000091.5(COL4A3):c.3228G>A (p.Pro1076=) rs200125890 0.00006
NM_000091.5(COL4A3):c.4253-14T>C rs747386514 0.00006
NM_000091.5(COL4A3):c.513C>T (p.Gly171=) rs199514043 0.00006
NM_000092.5(COL4A4):c.*1112G>A rs886055717 0.00006
NM_000092.5(COL4A4):c.*1802T>A rs886055713 0.00006
NM_000092.5(COL4A4):c.2079C>T (p.Pro693=) rs200010601 0.00006
NM_000092.5(COL4A4):c.4291C>T (p.Arg1431Cys) rs536570392 0.00006
NM_000092.5(COL4A4):c.4945A>G (p.Ser1649Gly) rs192411379 0.00006
NM_000092.5(COL4A4):c.778G>A (p.Val260Ile) rs775358063 0.00006
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.4482G>A (p.Leu1494=) rs181952966 0.00005
NM_000092.4(COL4A4):c.-341G>A rs886055731 0.00005
NM_000092.5(COL4A4):c.*3938A>G rs192161029 0.00005
NM_000092.5(COL4A4):c.1630C>T (p.His544Tyr) rs745815071 0.00005
NM_000092.5(COL4A4):c.4216+11C>T rs117468095 0.00005
NM_000092.5(COL4A4):c.4421C>T (p.Thr1474Met) rs201615111 0.00005
NM_000092.5(COL4A4):c.928C>T (p.Arg310Trp) rs200817090 0.00005
NM_000091.4(COL4A3):c.-134T>C rs886055734 0.00004
NM_000091.5(COL4A3):c.*1612A>G rs760687020 0.00004
NM_000091.5(COL4A3):c.*2565T>C rs1261742464 0.00004
NM_000091.5(COL4A3):c.*261A>T rs1019244359 0.00004
NM_000091.5(COL4A3):c.2125+13T>C rs777353565 0.00004
NM_000091.5(COL4A3):c.2282G>A (p.Arg761Lys) rs747356302 0.00004
NM_000091.5(COL4A3):c.3032G>A (p.Arg1011His) rs772164474 0.00004
NM_000091.5(COL4A3):c.4677C>T (p.Ala1559=) rs764663555 0.00004
NM_000091.5(COL4A3):c.516C>T (p.Asp172=) rs759455097 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_000092.5(COL4A4):c.*1073del rs149522920 0.00004
NM_000092.5(COL4A4):c.*128G>A rs886055722 0.00004
NM_000092.5(COL4A4):c.*1423T>C rs886055714 0.00004
NM_000092.5(COL4A4):c.*1960C>A rs1035280131 0.00004
NM_000092.5(COL4A4):c.*2033G>A rs886055711 0.00004
NM_000092.5(COL4A4):c.*888G>A rs372146953 0.00004
NM_000092.5(COL4A4):c.*931C>T rs903690028 0.00004
NM_000092.5(COL4A4):c.2516C>T (p.Pro839Leu) rs199562472 0.00004
NM_000092.5(COL4A4):c.4247G>A (p.Arg1416Lys) rs370734150 0.00004
NM_000092.5(COL4A4):c.4962G>A (p.Thr1654=) rs375911030 0.00004
NM_000091.5(COL4A3):c.*287G>A rs573135458 0.00003
NM_000091.5(COL4A3):c.*660T>C rs557009121 0.00003
NM_000091.5(COL4A3):c.4059T>C (p.Ile1353=) rs374672854 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_000092.5(COL4A4):c.*1026G>A rs927436000 0.00003
NM_000092.5(COL4A4):c.*1242C>T rs886055716 0.00003
NM_000092.5(COL4A4):c.*2677T>G rs892742003 0.00003
NM_000092.5(COL4A4):c.*3299A>G rs886055706 0.00003
NM_000092.5(COL4A4):c.*4393G>T rs886055699 0.00003
NM_000092.5(COL4A4):c.1202C>T (p.Ala401Val) rs199581317 0.00003
NM_000092.5(COL4A4):c.2586T>C (p.Pro862=) rs761238651 0.00003
NM_000092.5(COL4A4):c.3150+14G>T rs201486440 0.00003
NM_000092.5(COL4A4):c.4708G>A (p.Glu1570Lys) rs757328549 0.00003
NM_000091.5(COL4A3):c.-16T>C rs886055736 0.00002
NM_000091.5(COL4A3):c.1295C>T (p.Pro432Leu) rs534253913 0.00002
NM_000091.5(COL4A3):c.2919C>T (p.Gly973=) rs758181560 0.00002
NM_000091.5(COL4A3):c.468+9T>C rs754471166 0.00002
NM_000092.5(COL4A4):c.1893A>G (p.Gly631=) rs370886041 0.00002
NM_000092.5(COL4A4):c.3622C>G (p.Leu1208Val) rs780290586 0.00002
NM_000092.5(COL4A4):c.4725G>A (p.Ala1575=) rs886055724 0.00002
NM_000092.5(COL4A4):c.4862G>A (p.Ser1621Asn) rs886055723 0.00002
NM_000091.5(COL4A3):c.*1238T>C rs1423033002 0.00001
NM_000091.5(COL4A3):c.*1340T>C rs929078167 0.00001
NM_000091.5(COL4A3):c.*1634G>C rs376587950 0.00001
NM_000091.5(COL4A3):c.*2308T>C rs886055751 0.00001
NM_000091.5(COL4A3):c.*2795T>C rs906294246 0.00001
NM_000091.5(COL4A3):c.*387A>C rs971677230 0.00001
NM_000091.5(COL4A3):c.*501T>C rs1210086779 0.00001
NM_000091.5(COL4A3):c.1367_1369del (p.Tyr456del) rs762420854 0.00001
NM_000091.5(COL4A3):c.1423C>G (p.Leu475Val) rs886055738 0.00001
NM_000091.5(COL4A3):c.1927G>A (p.Gly643Ser) rs778034451 0.00001
NM_000091.5(COL4A3):c.2656+12T>A rs748254625 0.00001
NM_000091.5(COL4A3):c.2827G>A (p.Gly943Arg) rs1265432530 0.00001
NM_000091.5(COL4A3):c.388-15T>C rs762513527 0.00001
NM_000091.5(COL4A3):c.4100G>C (p.Gly1367Ala) rs886055742 0.00001
NM_000091.5(COL4A3):c.4153+10T>C rs865866667 0.00001
NM_000091.5(COL4A3):c.828+9T>C rs2069991819 0.00001
NM_000092.4(COL4A4):c.-408G>A rs554839865 0.00001
NM_000092.5(COL4A4):c.*1173T>C rs1360525515 0.00001
NM_000092.5(COL4A4):c.*1930T>C rs1289208914 0.00001
NM_000092.5(COL4A4):c.*222C>G rs1305583691 0.00001
NM_000092.5(COL4A4):c.*22C>A rs562265530 0.00001
NM_000092.5(COL4A4):c.*4363G>C rs1233339249 0.00001
NM_000092.5(COL4A4):c.*4369C>T rs886055700 0.00001
NM_000092.5(COL4A4):c.*4498T>C rs1481974918 0.00001
NM_000092.5(COL4A4):c.*4583A>G rs886055698 0.00001
NM_000092.5(COL4A4):c.*4599T>C rs1280441510 0.00001
NM_000092.5(COL4A4):c.*833C>T rs886055720 0.00001
NM_000092.5(COL4A4):c.1369+15A>C rs1216718864 0.00001
NM_000092.5(COL4A4):c.1963C>T (p.Pro655Ser) rs886055726 0.00001
NM_000092.5(COL4A4):c.1988-3C>T rs752688851 0.00001
NM_000092.5(COL4A4):c.2007C>T (p.Asn669=) rs754769010 0.00001
NM_000092.5(COL4A4):c.2045A>G (p.Asp682Gly) rs142093416 0.00001
NM_000092.5(COL4A4):c.228T>G (p.Ile76Met) rs1393470640 0.00001
NM_000092.5(COL4A4):c.2378C>T (p.Ala793Val) rs377676207 0.00001
NM_000092.5(COL4A4):c.2392G>A (p.Gly798Ser) rs760803228 0.00001
NM_000092.5(COL4A4):c.3513C>T (p.Ser1171=) rs762812157 0.00001
NM_000092.5(COL4A4):c.3577+14C>T rs370328730 0.00001
NM_000092.5(COL4A4):c.3706+13A>G rs754923656 0.00001
NM_000092.5(COL4A4):c.4081+9C>G rs201688381 0.00001
NM_000092.5(COL4A4):c.4779G>A (p.Arg1593=) rs751561029 0.00001
NM_000092.5(COL4A4):c.4947C>T (p.Ser1649=) rs918428666 0.00001
NM_000092.5(COL4A4):c.507G>C (p.Lys169Asn) rs545808060 0.00001
NM_000092.5(COL4A4):c.620C>T (p.Ala207Val) rs369698515 0.00001
NM_000092.5(COL4A4):c.661C>T (p.Pro221Ser) rs1261138757 0.00001
NM_000092.5(COL4A4):c.88C>T (p.Leu30Phe) rs758174051 0.00001
NM_000091.4(COL4A3):c.-146G>C rs886055733
NM_000091.5(COL4A3):c.*1032G>A rs886055744
NM_000091.5(COL4A3):c.*1069_*1070del rs11297279
NM_000091.5(COL4A3):c.*1069_*1070dup rs11297279
NM_000091.5(COL4A3):c.*1070del rs11297279
NM_000091.5(COL4A3):c.*1070dup rs11297279
NM_000091.5(COL4A3):c.*1071G>A rs866036167
NM_000091.5(COL4A3):c.*1165G>A rs28554165
NM_000091.5(COL4A3):c.*1739C>T rs750139996
NM_000091.5(COL4A3):c.*1918T>C rs767668198
NM_000091.5(COL4A3):c.*2048C>G rs886055748
NM_000091.5(COL4A3):c.*2087A>T rs2073823186
NM_000091.5(COL4A3):c.*2266A>G rs2073829100
NM_000091.5(COL4A3):c.*2272T>C rs886055750
NM_000091.5(COL4A3):c.*2834ATA[1] rs137947510
NM_000091.5(COL4A3):c.*2836A>G rs1030825188
NM_000091.5(COL4A3):c.*2853A>C rs768580153
NM_000091.5(COL4A3):c.*454G>T rs2073771672
NM_000091.5(COL4A3):c.*459T>C rs1041353391
NM_000091.5(COL4A3):c.*656T>A rs538761832
NM_000091.5(COL4A3):c.-81G>C rs886055735
NM_000091.5(COL4A3):c.1031C>T (p.Thr344Ile) rs2070429834
NM_000091.5(COL4A3):c.1150+4T>A rs200061201
NM_000091.5(COL4A3):c.1238C>A (p.Ala413Asp) rs2070738434
NM_000091.5(COL4A3):c.127G>C (p.Gly43Arg) rs13424243
NM_000091.5(COL4A3):c.1508G>A (p.Arg503Lys) rs1434266764
NM_000091.5(COL4A3):c.1849G>A (p.Gly617Ser) rs2071335952
NM_000091.5(COL4A3):c.1863A>G (p.Gln621=) rs771390525
NM_000091.5(COL4A3):c.2021-9G>C rs773021303
NM_000091.5(COL4A3):c.2747-11C>A rs886055739
NM_000091.5(COL4A3):c.2881+6G>T rs886055740
NM_000091.5(COL4A3):c.3211-13G>A rs200555661
NM_000091.5(COL4A3):c.3518-15G>C rs2072979600
NM_000091.5(COL4A3):c.36C>T (p.Leu12=) rs1189095338
NM_000091.5(COL4A3):c.3825C>T (p.His1275=) rs143380907
NM_000091.5(COL4A3):c.386A>C (p.Lys129Thr) rs886055737
NM_000091.5(COL4A3):c.3956-8_3956-5del rs779522146
NM_000091.5(COL4A3):c.3995C>G (p.Pro1332Arg) rs757747350
NM_000091.5(COL4A3):c.4027+11G>T rs191002419
NM_000091.5(COL4A3):c.4501C>A (p.Pro1501Thr) rs1195144676
NM_000091.5(COL4A3):c.4691C>T (p.Thr1564Ile) rs886055743
NM_000091.5(COL4A3):c.4712C>T (p.Pro1571Leu) rs2073645172
NM_000091.5(COL4A3):c.4825C>A (p.Arg1609=) rs756231749
NM_000091.5(COL4A3):c.610-11G>A rs566045388
NM_000091.5(COL4A3):c.686G>T (p.Arg229Leu) rs188942711
NM_000091.5(COL4A3):c.865G>A (p.Ala289Thr) rs2070037501
NM_000091.5(COL4A3):c.87+7G>T rs1358691399
NM_000091.5(COL4A3):c.922C>T (p.Pro308Ser) rs765318949
NM_000092.4(COL4A4):c.-301C>T rs2065101251
NM_000092.4(COL4A4):c.-527G>A rs886055732
NM_000092.5(COL4A4):c.*1190G>A rs924155482
NM_000092.5(COL4A4):c.*1292A>T rs1962017400
NM_000092.5(COL4A4):c.*1349A>C rs886055715
NM_000092.5(COL4A4):c.*1397A>G rs1961988842
NM_000092.5(COL4A4):c.*1687T>G rs538453112
NM_000092.5(COL4A4):c.*1914A>T rs886055712
NM_000092.5(COL4A4):c.*2021A>G rs1961867304
NM_000092.5(COL4A4):c.*2119_*2120dup rs56983325
NM_000092.5(COL4A4):c.*2120del rs56983325
NM_000092.5(COL4A4):c.*2120dup rs56983325
NM_000092.5(COL4A4):c.*2259G>A rs886055708
NM_000092.5(COL4A4):c.*2259G>C rs886055708
NM_000092.5(COL4A4):c.*244C>A rs56196639
NM_000092.5(COL4A4):c.*244C>T rs56196639
NM_000092.5(COL4A4):c.*2487C>A rs538994353
NM_000092.5(COL4A4):c.*2732C>T rs1043998157
NM_000092.5(COL4A4):c.*2807T>G rs1961667960
NM_000092.5(COL4A4):c.*2849G>A rs531063842
NM_000092.5(COL4A4):c.*2855C>T rs141795776
NM_000092.5(COL4A4):c.*3156A>G rs748537109
NM_000092.5(COL4A4):c.*318T>G rs1575685645
NM_000092.5(COL4A4):c.*321A>G rs886055721
NM_000092.5(COL4A4):c.*3354C>A rs1961538066
NM_000092.5(COL4A4):c.*345T>A rs1962275393
NM_000092.5(COL4A4):c.*3461A>G rs886055705
NM_000092.5(COL4A4):c.*3791A>C rs1961459136
NM_000092.5(COL4A4):c.*3940T>C rs886055704
NM_000092.5(COL4A4):c.*4041A>G rs1016355173
NM_000092.5(COL4A4):c.*4102dup rs370056635
NM_000092.5(COL4A4):c.*4106C>A rs886055702
NM_000092.5(COL4A4):c.*4135A>T rs886055701
NM_000092.5(COL4A4):c.*4385A>G rs574071910
NM_000092.5(COL4A4):c.*4491_*4494dup rs151077907
NM_000092.5(COL4A4):c.*48G>A rs767600758
NM_000092.5(COL4A4):c.*491A>G rs149466995
NM_000092.5(COL4A4):c.*566del rs11314253
NM_000092.5(COL4A4):c.*747T>C rs752977716
NM_000092.5(COL4A4):c.*755T>C rs191394048
NM_000092.5(COL4A4):c.*774dup rs59918285
NM_000092.5(COL4A4):c.*863C>G rs886055719
NM_000092.5(COL4A4):c.*864C>G rs886055718
NM_000092.5(COL4A4):c.*888G>T rs372146953
NM_000092.5(COL4A4):c.-102+10C>G rs867845285
NM_000092.5(COL4A4):c.-102+8G>T rs544582281
NM_000092.5(COL4A4):c.-177G>A rs886055730
NM_000092.5(COL4A4):c.1522C>T (p.Pro508Ser) rs2059736984
NM_000092.5(COL4A4):c.1719T>C (p.Pro573=) rs533957132
NM_000092.5(COL4A4):c.1767T>A (p.Asp589Glu) rs886055727
NM_000092.5(COL4A4):c.1914A>G (p.Pro638=) rs759226801
NM_000092.5(COL4A4):c.2159C>T (p.Pro720Leu) rs749186337
NM_000092.5(COL4A4):c.2165-13del rs140965334
NM_000092.5(COL4A4):c.2335C>G (p.Pro779Ala) rs886055725
NM_000092.5(COL4A4):c.2367A>T (p.Gly789=) rs56247709
NM_000092.5(COL4A4):c.3374C>T (p.Ser1125Phe) rs766044583
NM_000092.5(COL4A4):c.354A>G (p.Pro118=) rs1432438341
NM_000092.5(COL4A4):c.3770C>T (p.Pro1257Leu) rs755884665
NM_000092.5(COL4A4):c.3974-14T>C rs1427442513
NM_000092.5(COL4A4):c.436G>A (p.Gly146Ser) rs886055729
NM_000092.5(COL4A4):c.4594C>A (p.His1532Asn) rs1962633158
NM_000092.5(COL4A4):c.4760C>G (p.Pro1587Arg) rs190148408
NM_000092.5(COL4A4):c.645G>A (p.Glu215=) rs2061038127
NM_000092.5(COL4A4):c.680G>A (p.Arg227His) rs368248078
NM_000092.5(COL4A4):c.816+12A>T rs886055728
NM_000092.5(COL4A4):c.817-6T>G rs2060623868
NM_000092.5(COL4A4):c.843T>C (p.Val281=) rs1335068296
NM_000092.5(COL4A4):c.931-18dup rs746509796
NM_033380.3(COL4A5):c.3088G>A (p.Gly1030Ser) rs104886210

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