ClinVar Miner

List of variants in gene COL4A4 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 499
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HGVS dbSNP gnomAD frequency
NM_000092.5(COL4A4):c.3973+300G>A rs6436643 0.98673
NM_000092.5(COL4A4):c.2861-311_2861-310insG rs3835891 0.79300
NM_000092.5(COL4A4):c.595-189T>C rs6436655 0.73562
NM_000092.5(COL4A4):c.595-111T>C rs6436654 0.71196
NM_000092.5(COL4A4):c.817-307A>C rs1317717 0.68442
NM_000092.5(COL4A4):c.3151-128A>C rs2251223 0.66862
NM_000092.5(COL4A4):c.2384-138C>T rs2141829 0.66461
NM_000092.5(COL4A4):c.2383+169T>C rs6436649 0.66442
NM_000092.5(COL4A4):c.2384-307A>G rs3769637 0.66442
NM_000092.5(COL4A4):c.2057-138G>A rs6436650 0.66143
NM_000092.5(COL4A4):c.816+135T>G rs7602059 0.65946
NM_000092.5(COL4A4):c.2717-156T>C rs4675142 0.65189
NM_000092.5(COL4A4):c.2384-230G>A rs2177597 0.64787
NM_000092.5(COL4A4):c.2545+178T>C rs4536647 0.64779
NM_000092.5(COL4A4):c.2545+214C>T rs4296417 0.64769
NM_000092.5(COL4A4):c.2545+140T>C rs4566357 0.64768
NM_000092.5(COL4A4):c.1804-158A>G rs7588113 0.64718
NM_000092.5(COL4A4):c.2545+51A>G rs7567789 0.64631
NM_000092.5(COL4A4):c.1029+72G>A rs16823202 0.64560
NM_000092.5(COL4A4):c.2056+248A>G rs12612535 0.64475
NM_000092.5(COL4A4):c.658-39T>C rs12475686 0.61721
NM_000092.5(COL4A4):c.2545+229C>T rs4296416 0.61429
NM_000092.5(COL4A4):c.2545+46A>T rs7567796 0.61276
NM_000092.5(COL4A4):c.4548A>G (p.Val1516=) rs2228555 0.57766
NM_000092.5(COL4A4):c.490-121T>G rs12465531 0.52500
NM_000092.5(COL4A4):c.2546-276dup rs5839191 0.51911
NM_000092.5(COL4A4):c.3214+159A>G rs2272202 0.51677
NM_000092.5(COL4A4):c.3215-66C>T rs2272200 0.51657
NM_000092.5(COL4A4):c.2861-142A>G rs3769643 0.51553
NM_000092.5(COL4A4):c.2969-165A>G rs2894626 0.51539
NM_000092.5(COL4A4):c.2861-195A>G rs3769642 0.51535
NM_000092.5(COL4A4):c.2861-112G>C rs3769644 0.51533
NM_000092.5(COL4A4):c.3011C>T (p.Pro1004Leu) rs1800517 0.51043
NM_000092.5(COL4A4):c.3215-286A>T rs2272201 0.51041
NM_000092.5(COL4A4):c.3150+92C>A rs2272204 0.51022
NM_000092.5(COL4A4):c.1444C>T (p.Pro482Ser) rs2229814 0.51006
NM_000092.5(COL4A4):c.4809+117T>C rs9288618 0.50153
NM_000092.5(COL4A4):c.4207T>C (p.Ser1403Pro) rs3752895 0.49558
NM_000092.5(COL4A4):c.4217-24C>T rs10188770 0.48798
NM_000092.5(COL4A4):c.2546-264T>A rs10206912 0.48787
NM_000092.5(COL4A4):c.4523-8T>C rs13419076 0.47936
NM_000092.5(COL4A4):c.4522+72G>A rs4423583 0.47909
NM_000092.5(COL4A4):c.4932C>T (p.Phe1644=) rs2228557 0.47874
NM_000092.5(COL4A4):c.4334-152A>T rs10194663 0.47730
NM_000092.5(COL4A4):c.4334-143C>T rs10182307 0.47649
NM_000092.5(COL4A4):c.4090+235T>A rs2177596 0.46877
NM_000092.5(COL4A4):c.3973+34T>C rs1917127 0.46756
NM_000092.5(COL4A4):c.4080G>A (p.Pro1360=) rs2228556 0.46753
NM_000092.5(COL4A4):c.4081+190A>G rs10199655 0.46752
NM_000092.5(COL4A4):c.3979G>A (p.Val1327Met) rs2229813 0.46716
NM_000092.5(COL4A4):c.3817+331G>A rs3769646 0.46660
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.3578-84T>C rs10179756 0.46595
NM_000092.5(COL4A4):c.3594G>A (p.Gly1198=) rs10203363 0.46565
NM_000092.5(COL4A4):c.2716+187C>T rs1320406 0.45752
NM_000092.5(COL4A4):c.694-72G>T rs55741079 0.44490
NM_000092.5(COL4A4):c.3214+300A>G rs10190621 0.43815
NM_000092.5(COL4A4):c.2717-177G>A rs55760660 0.43717
NM_000092.5(COL4A4):c.4091-36G>A rs3752896 0.42307
NM_000092.5(COL4A4):c.3974-292C>T rs2272198 0.42156
NM_000092.5(COL4A4):c.3817+229T>A rs10176882 0.42084
NM_000092.5(COL4A4):c.3506-237G>A rs2276593 0.41985
NM_000092.5(COL4A4):c.1459+258G>A rs6747048 0.40955
NM_000092.5(COL4A4):c.3505+343C>T rs11885634 0.39554
NM_000092.5(COL4A4):c.3214+223G>A rs10178202 0.33608
NM_000092.5(COL4A4):c.2384-154A>G rs2141828 0.30120
NM_000092.5(COL4A4):c.1624-150G>C rs10187611 0.23892
NM_000092.5(COL4A4):c.657+67A>G rs58363082 0.21126
NM_000092.5(COL4A4):c.657+62G>A rs59938187 0.20743
NM_000092.5(COL4A4):c.595-191C>T rs7578239 0.20545
NM_000092.5(COL4A4):c.595-305dup rs11408248 0.20427
NM_000092.5(COL4A4):c.594+281C>T rs4476340 0.20068
NM_000092.5(COL4A4):c.594+276G>T rs4306710 0.20045
NM_000092.5(COL4A4):c.594+168A>G rs4519512 0.19020
NM_000092.5(COL4A4):c.2164+78G>A rs11898094 0.17434
NM_000092.5(COL4A4):c.559-320C>G rs2272528 0.16680
NM_000092.5(COL4A4):c.1987+91T>C rs7597336 0.16109
NM_000092.5(COL4A4):c.657+48A>G rs73082223 0.15994
NM_000092.5(COL4A4):c.490-40T>C rs60924946 0.12641
NM_000092.5(COL4A4):c.735+104C>T rs10174459 0.10382
NM_000092.5(COL4A4):c.-2C>T rs2228558 0.10292
NM_000092.5(COL4A4):c.4081+120T>C rs7580776 0.10208
NM_000092.5(COL4A4):c.17T>C (p.Ile6Thr) rs16823264 0.10047
NM_000092.5(COL4A4):c.71+75G>A rs16823262 0.09759
NM_000092.5(COL4A4):c.71+163C>A rs16823259 0.09751
NM_000092.5(COL4A4):c.-101-191A>T rs17302501 0.09646
NM_000092.5(COL4A4):c.558+295dup rs57865017 0.08710
NM_000092.5(COL4A4):c.4333+210C>T rs35483183 0.08355
NM_000092.5(COL4A4):c.1030-149G>A rs2894632 0.08076
NM_000092.5(COL4A4):c.2861-220C>T rs60807146 0.07669
NM_000092.5(COL4A4):c.2969-50A>G rs2272205 0.07602
NM_000092.5(COL4A4):c.2384-5T>C rs3769641 0.07065
NM_000092.5(COL4A4):c.1369+297G>T rs56034237 0.05965
NM_000092.5(COL4A4):c.594+96C>T rs59888959 0.05512
NM_000092.5(COL4A4):c.594+63T>C rs7558996 0.04756
NM_000092.5(COL4A4):c.4333+238A>G rs56127522 0.04184
NM_000092.5(COL4A4):c.558+210A>G rs113424875 0.03762
NM_000092.5(COL4A4):c.373-332C>T rs79998223 0.03760
NM_000092.5(COL4A4):c.558+274G>T rs79064993 0.03750
NM_000092.5(COL4A4):c.489+147A>G rs56195833 0.03748
NM_000092.5(COL4A4):c.328-130dup rs141376350 0.03745
NM_000092.5(COL4A4):c.372+291A>G rs115128674 0.03745
NM_000092.5(COL4A4):c.3397+166C>A rs73995525 0.03439
NM_000092.5(COL4A4):c.1634G>C (p.Gly545Ala) rs1800516 0.03182
NM_000092.5(COL4A4):c.3506-121G>A rs77583082 0.02806
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.559-155C>T rs55709703 0.02698
NM_000092.5(COL4A4):c.2276C>T (p.Pro759Leu) rs36121515 0.02697
NM_000092.5(COL4A4):c.1369+189T>C rs73082213 0.02664
NM_000092.5(COL4A4):c.3151-310A>G rs73076283 0.02613
NM_000092.5(COL4A4):c.4041A>G (p.Leu1347=) rs16823077 0.02492
NM_000092.5(COL4A4):c.1624-188G>A rs111997909 0.02334
NM_000092.5(COL4A4):c.1781A>G (p.Glu594Gly) rs35998949 0.02275
NM_000092.5(COL4A4):c.71+305A>G rs115550468 0.02244
NM_000092.5(COL4A4):c.490-72T>A rs62277803 0.02059
NM_000092.5(COL4A4):c.489+318G>C rs56350167 0.02056
NM_000092.5(COL4A4):c.2546-115C>T rs55920884 0.01998
NM_000092.5(COL4A4):c.817-120T>C rs7601500 0.01936
NM_000092.5(COL4A4):c.2899A>G (p.Ile967Val) rs80243096 0.01747
NM_000092.5(COL4A4):c.2383+269C>T rs7561057 0.01661
NM_000092.5(COL4A4):c.3486A>G (p.Pro1162=) rs2229815 0.01659
NM_000092.5(COL4A4):c.1205-122C>T rs7561575 0.01626
NM_000092.5(COL4A4):c.2008G>A (p.Val670Ile) rs34236495 0.01622
NM_000092.5(COL4A4):c.4090+309G>A rs16823063 0.01614
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.1099+221T>C rs114432892 0.01499
NM_000092.5(COL4A4):c.1460-133C>T rs7592699 0.01494
NM_000092.5(COL4A4):c.1623+33A>G rs139905405 0.01488
NM_000092.5(COL4A4):c.-101-76C>T rs58399462 0.01408
NM_000092.5(COL4A4):c.115-262A>T rs113783184 0.01380
NM_000092.5(COL4A4):c.4656G>A (p.Met1552Ile) rs77104306 0.01346
NM_000092.5(COL4A4):c.4082-213G>A rs71431018 0.01294
NM_000092.5(COL4A4):c.2164+119A>G rs76918233 0.01284
NM_000092.5(COL4A4):c.2996G>A (p.Gly999Glu) rs13027659 0.01279
NM_000092.5(COL4A4):c.2717-198C>T rs186556058 0.01263
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.2860+272A>G rs34093482 0.01239
NM_000092.5(COL4A4):c.2796G>A (p.Lys932=) rs34591179 0.01236
NM_000092.5(COL4A4):c.559-21A>G rs56306477 0.01229
NM_000092.5(COL4A4):c.-79C>T rs55836847 0.01218
NM_000092.5(COL4A4):c.4217-242G>A rs73087798 0.01207
NM_000092.5(COL4A4):c.3818-45T>A rs55886181 0.01195
NM_000092.5(COL4A4):c.2717-5A>T rs1800519 0.01182
NM_000092.5(COL4A4):c.3505+292T>C rs866605019 0.01082
NM_000092.5(COL4A4):c.3505+288T>C rs912278835 0.01042
NM_000092.5(COL4A4):c.3397+41G>T rs116839612 0.01005
NM_000092.5(COL4A4):c.3505+284T>C rs939758084 0.00920
NM_000092.5(COL4A4):c.594+86A>G rs115350822 0.00913
NM_000092.5(COL4A4):c.595-185C>T rs116571011 0.00856
NM_000092.5(COL4A4):c.595-67G>A rs116693000 0.00840
NM_000092.5(COL4A4):c.3398-85A>G rs114914601 0.00831
NM_000092.5(COL4A4):c.3505+280T>C rs56138701 0.00792
NM_000092.5(COL4A4):c.817-87T>G rs114177330 0.00767
NM_000092.5(COL4A4):c.2968+221C>T rs113535111 0.00729
NM_000092.5(COL4A4):c.4081+322T>C rs548238805 0.00729
NM_000092.5(COL4A4):c.4091-203C>A rs148294208 0.00682
NM_000092.5(COL4A4):c.198A>G (p.Pro66=) rs147947155 0.00681
NM_000092.5(COL4A4):c.490-289G>C rs151023067 0.00680
NM_000092.5(COL4A4):c.666G>A (p.Pro222=) rs111945121 0.00676
NM_000092.5(COL4A4):c.1460-53T>C rs114971505 0.00672
NM_000092.5(COL4A4):c.4216+300G>A rs191148534 0.00669
NM_000092.5(COL4A4):c.328-171G>A rs116677164 0.00661
NM_000092.5(COL4A4):c.193-315C>T rs138638571 0.00647
NM_000092.5(COL4A4):c.3963T>C (p.Asp1321=) rs116124529 0.00639
NM_000092.5(COL4A4):c.3150+162C>T rs115940483 0.00636
NM_000092.5(COL4A4):c.3290-34C>T rs78807073 0.00636
NM_000092.5(COL4A4):c.2546-311A>G rs116247789 0.00633
NM_000092.5(COL4A4):c.2546-89G>A rs142196685 0.00633
NM_000092.5(COL4A4):c.1988-47A>G rs146370420 0.00632
NM_000092.5(COL4A4):c.2545+45C>G rs79217682 0.00632
NM_000092.5(COL4A4):c.3214+227C>A rs80056569 0.00632
NM_000092.5(COL4A4):c.3290-241C>G rs114011631 0.00632
NM_000092.5(COL4A4):c.3290-313T>C rs80277429 0.00632
NM_000092.5(COL4A4):c.3232G>A (p.Ala1078Thr) rs77277077 0.00631
NM_000092.5(COL4A4):c.3215-128A>G rs115754830 0.00630
NM_000092.5(COL4A4):c.2717-127T>C rs184079874 0.00625
NM_000092.5(COL4A4):c.3817+279A>G rs114478649 0.00622
NM_000092.5(COL4A4):c.3871C>G (p.Pro1291Ala) rs34728338 0.00619
NM_000092.5(COL4A4):c.3397+305C>G rs115531443 0.00616
NM_000092.5(COL4A4):c.4082-55T>C rs184511887 0.00605
NM_000092.5(COL4A4):c.1804-267C>A rs138589734 0.00579
NM_000092.5(COL4A4):c.1029+307G>A rs139106115 0.00570
NM_000092.5(COL4A4):c.558+83T>C rs76770753 0.00563
NM_000092.5(COL4A4):c.-101-4A>G rs147186690 0.00562
NM_000092.5(COL4A4):c.3818-202C>T rs192800536 0.00518
NM_000092.5(COL4A4):c.2716+188G>A rs114672838 0.00509
NM_000092.5(COL4A4):c.3397+82C>T rs115358560 0.00507
NM_000092.5(COL4A4):c.2907A>C (p.Ser969=) rs116354015 0.00506
NM_000092.5(COL4A4):c.2969-240C>T rs140827448 0.00506
NM_000092.5(COL4A4):c.2968+44T>C rs74768770 0.00500
NM_000092.5(COL4A4):c.2968+59T>G rs116503522 0.00499
NM_000092.5(COL4A4):c.2057-107A>G rs79267822 0.00495
NM_000092.5(COL4A4):c.4091-305C>T rs145689259 0.00487
NM_000092.5(COL4A4):c.1833T>C (p.Gly611=) rs145806603 0.00479
NM_000092.5(COL4A4):c.3817+269G>A rs140394246 0.00473
NM_000092.5(COL4A4):c.871-102T>C rs143975605 0.00462
NM_000092.5(COL4A4):c.2968+117A>G rs186349584 0.00446
NM_000092.5(COL4A4):c.736-69A>T rs75586446 0.00437
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.3578-313T>C rs138858168 0.00418
NM_000092.5(COL4A4):c.2968+26T>A rs140253552 0.00411
NM_000092.5(COL4A4):c.114+83C>A rs145246311 0.00379
NM_000092.5(COL4A4):c.1987+225T>A rs189678115 0.00376
NM_000092.5(COL4A4):c.559-252G>T rs7588679 0.00365
NM_000092.5(COL4A4):c.1697-333C>T rs144187875 0.00360
NM_000092.5(COL4A4):c.50A>G (p.Lys17Arg) rs114969026 0.00341
NM_000092.5(COL4A4):c.1029+292C>G rs149373121 0.00335
NM_000092.5(COL4A4):c.2056+62C>T rs372884219 0.00276
NM_000092.5(COL4A4):c.4081+56C>T rs186615965 0.00275
NM_000092.5(COL4A4):c.2630G>A (p.Arg877Gln) rs150979437 0.00274
NM_000092.5(COL4A4):c.1987+48T>C rs150236630 0.00264
NM_000092.5(COL4A4):c.5016A>G (p.Glu1672=) rs34761049 0.00264
NM_000092.5(COL4A4):c.1459+260A>G rs866647294 0.00263
NM_000092.5(COL4A4):c.4731G>A (p.Ala1577=) rs200639109 0.00257
NM_000092.5(COL4A4):c.4152G>A (p.Ala1384=) rs75398993 0.00245
NM_000092.5(COL4A4):c.4217-15T>C rs200926310 0.00228
NM_000092.5(COL4A4):c.2717-15C>A rs143886681 0.00199
NM_000092.5(COL4A4):c.2717-16G>A rs146891868 0.00199
NM_000092.5(COL4A4):c.192+21C>T rs74920785 0.00194
NM_000092.5(COL4A4):c.1804-41A>T rs148988785 0.00165
NM_000092.5(COL4A4):c.2056+10A>G rs138869451 0.00161
NM_000092.5(COL4A4):c.3577+48C>G rs144111732 0.00161
NM_000092.5(COL4A4):c.1804-227C>G rs188558739 0.00153
NM_000092.5(COL4A4):c.3818-44C>T rs189866176 0.00153
NM_000092.5(COL4A4):c.3818-15C>T rs184593123 0.00152
NM_000092.5(COL4A4):c.558+31A>T rs374898945 0.00113
NM_000092.5(COL4A4):c.1819G>A (p.Ala607Thr) rs75539253 0.00109
NM_000092.5(COL4A4):c.1776T>C (p.Ala592=) rs188655353 0.00101
NM_000092.5(COL4A4):c.71+124G>A rs374524327 0.00083
NM_000092.5(COL4A4):c.195T>C (p.Gly65=) rs201278620 0.00082
NM_000092.5(COL4A4):c.736-10T>G rs201175819 0.00073
NM_000092.5(COL4A4):c.4185G>A (p.Gly1395=) rs55978207 0.00057
NM_000092.5(COL4A4):c.102A>G (p.Gln34=) rs3817617 0.00056
NM_000092.5(COL4A4):c.1812T>C (p.His604=) rs371381056 0.00056
NM_000092.5(COL4A4):c.3989C>T (p.Pro1330Leu) rs201578201 0.00054
NM_000092.5(COL4A4):c.1353C>T (p.Gly451=) rs199511948 0.00044
NM_000092.5(COL4A4):c.1205-9A>G rs370706928 0.00043
NM_000092.5(COL4A4):c.327+130T>G rs530897108 0.00043
NM_000092.5(COL4A4):c.4349T>C (p.Ile1450Thr) rs72969704 0.00038
NM_000092.5(COL4A4):c.2877C>T (p.Pro959=) rs79470996 0.00035
NM_000092.5(COL4A4):c.693+43A>G rs138960238 0.00032
NM_000092.5(COL4A4):c.3108T>C (p.Gly1036=) rs201962241 0.00030
NM_000092.5(COL4A4):c.3666T>C (p.Pro1222=) rs372838090 0.00029
NM_000092.5(COL4A4):c.1435G>C (p.Gly479Arg) rs202210475 0.00026
NM_000092.5(COL4A4):c.2144C>T (p.Ala715Val) rs76636743 0.00021
NM_000092.5(COL4A4):c.4674G>A (p.Ala1558=) rs373933029 0.00021
NM_000092.5(COL4A4):c.193-9C>G rs190570269 0.00020
NM_000092.5(COL4A4):c.929G>A (p.Arg310Gln) rs373741172 0.00020
NM_000092.5(COL4A4):c.4195A>T (p.Met1399Leu) rs149117087 0.00019
NM_000092.5(COL4A4):c.431C>T (p.Ser144Leu) rs368884003 0.00019
NM_000092.5(COL4A4):c.4715C>T (p.Pro1572Leu) rs121912863 0.00019
NM_000092.5(COL4A4):c.2073A>G (p.Pro691=) rs368774059 0.00017
NM_000092.5(COL4A4):c.4857T>C (p.Pro1619=) rs184776061 0.00017
NM_000092.5(COL4A4):c.1055C>T (p.Pro352Leu) rs371717486 0.00016
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_000092.5(COL4A4):c.2717-17T>C rs183421243 0.00015
NM_000092.5(COL4A4):c.2840G>A (p.Arg947Gln) rs373540400 0.00014
NM_000092.5(COL4A4):c.4982T>A (p.Phe1661Tyr) rs374119389 0.00014
NM_000092.5(COL4A4):c.1624-13A>G rs377386305 0.00013
NM_000092.5(COL4A4):c.2161C>T (p.Pro721Ser) rs200759521 0.00012
NM_000092.5(COL4A4):c.2906C>G (p.Ser969Ter) rs35138315 0.00011
NM_000092.5(COL4A4):c.3531C>T (p.Asn1177=) rs201699649 0.00011
NM_000092.5(COL4A4):c.558+73G>T rs185466258 0.00011
NM_000092.5(COL4A4):c.771C>T (p.Thr257=) rs372387985 0.00011
NM_000092.5(COL4A4):c.3705A>G (p.Pro1235=) rs752638078 0.00010
NM_000092.5(COL4A4):c.5045G>A (p.Arg1682Gln) rs368404711 0.00010
NM_000092.5(COL4A4):c.1527G>A (p.Gly509=) rs201160539 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.2171G>A (p.Arg724His) rs200146486 0.00009
NM_000092.5(COL4A4):c.3914C>T (p.Pro1305Leu) rs746621296 0.00009
NM_000092.5(COL4A4):c.3995C>T (p.Pro1332Leu) rs200860702 0.00009
NM_000092.5(COL4A4):c.4545C>T (p.Pro1515=) rs777758326 0.00009
NM_000092.5(COL4A4):c.1460-6G>A rs771213140 0.00008
NM_000092.5(COL4A4):c.3037C>T (p.His1013Tyr) rs751663801 0.00008
NM_000092.5(COL4A4):c.3044G>A (p.Gly1015Glu) rs764323652 0.00008
NM_000092.5(COL4A4):c.4678C>T (p.Arg1560Cys) rs200973262 0.00008
NM_000092.5(COL4A4):c.3532G>A (p.Gly1178Ser) rs780504632 0.00007
NM_000092.5(COL4A4):c.1129C>T (p.Arg377Cys) rs555143841 0.00006
NM_000092.5(COL4A4):c.191G>A (p.Arg64Gln) rs371326070 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_000092.5(COL4A4):c.8C>T (p.Ser3Phe) rs201403066 0.00006
NM_000092.5(COL4A4):c.1334G>C (p.Gly445Ala) rs548019779 0.00005
NM_000092.5(COL4A4):c.2570C>T (p.Pro857Leu) rs533602128 0.00005
NM_000092.5(COL4A4):c.2589C>T (p.Pro863=) rs772517977 0.00005
NM_000092.5(COL4A4):c.4390G>A (p.Gly1464Ser) rs372558522 0.00005
NM_000092.5(COL4A4):c.4421C>T (p.Thr1474Met) rs201615111 0.00005
NM_000092.5(COL4A4):c.4578C>T (p.Asn1526=) rs202109186 0.00005
NM_000092.5(COL4A4):c.4612G>A (p.Asp1538Asn) rs376401228 0.00005
NM_000092.5(COL4A4):c.1668G>T (p.Lys556Asn) rs764279454 0.00004
NM_000092.5(COL4A4):c.1782A>G (p.Glu594=) rs370489388 0.00004
NM_000092.5(COL4A4):c.2320G>C (p.Gly774Arg) rs569681869 0.00004
NM_000092.5(COL4A4):c.2986G>A (p.Gly996Arg) rs370474706 0.00004
NM_000092.5(COL4A4):c.3644C>T (p.Pro1215Leu) rs189847470 0.00004
NM_000092.5(COL4A4):c.4640C>T (p.Ala1547Val) rs780916516 0.00004
NM_000092.5(COL4A4):c.4837G>A (p.Gly1613Arg) rs377233046 0.00004
NM_000092.5(COL4A4):c.980A>G (p.Glu327Gly) rs375714304 0.00004
NM_000092.5(COL4A4):c.1202C>T (p.Ala401Val) rs199581317 0.00003
NM_000092.5(COL4A4):c.3012G>A (p.Pro1004=) rs778433928 0.00003
NM_000092.5(COL4A4):c.4098G>A (p.Pro1366=) rs772611085 0.00003
NM_000092.5(COL4A4):c.447G>A (p.Gly149=) rs372746082 0.00003
NM_000092.5(COL4A4):c.4708G>A (p.Glu1570Lys) rs757328549 0.00003
NM_000092.5(COL4A4):c.-1G>A rs780102207 0.00002
NM_000092.5(COL4A4):c.1080T>A (p.Thr360=) rs777600000 0.00002
NM_000092.5(COL4A4):c.110A>G (p.Tyr37Cys) rs750707504 0.00002
NM_000092.5(COL4A4):c.1276G>A (p.Gly426Arg) rs552375817 0.00002
NM_000092.5(COL4A4):c.1560T>G (p.Pro520=) rs374935235 0.00002
NM_000092.5(COL4A4):c.1893A>G (p.Gly631=) rs370886041 0.00002
NM_000092.5(COL4A4):c.1990G>A (p.Asp664Asn) rs201181725 0.00002
NM_000092.5(COL4A4):c.2242G>A (p.Gly748Ser) rs762139460 0.00002
NM_000092.5(COL4A4):c.2908C>G (p.Gln970Glu) rs372413045 0.00002
NM_000092.5(COL4A4):c.3112A>G (p.Arg1038Gly) rs770930167 0.00002
NM_000092.5(COL4A4):c.3355A>G (p.Arg1119Gly) rs778458961 0.00002
NM_000092.5(COL4A4):c.3859C>G (p.Leu1287Val) rs571869797 0.00002
NM_000092.5(COL4A4):c.4264G>A (p.Val1422Ile) rs368105222 0.00002
NM_000092.5(COL4A4):c.4322C>G (p.Pro1441Arg) rs192942886 0.00002
NM_000092.5(COL4A4):c.1036C>T (p.Pro346Ser) rs1042927949 0.00001
NM_000092.5(COL4A4):c.1145G>C (p.Gly382Ala) rs751952236 0.00001
NM_000092.5(COL4A4):c.1203A>G (p.Ala401=) rs778832152 0.00001
NM_000092.5(COL4A4):c.1225C>T (p.Pro409Ser) rs377292825 0.00001
NM_000092.5(COL4A4):c.133G>T (p.Gly45Cys) rs753016038 0.00001
NM_000092.5(COL4A4):c.1424G>C (p.Gly475Ala) rs1559594442 0.00001
NM_000092.5(COL4A4):c.1441G>A (p.Gly481Ser) rs181528936 0.00001
NM_000092.5(COL4A4):c.164G>T (p.Cys55Phe) rs570529667 0.00001
NM_000092.5(COL4A4):c.1792C>A (p.Pro598Thr) rs1411689737 0.00001
NM_000092.5(COL4A4):c.1823C>A (p.Thr608Asn) rs747599746 0.00001
NM_000092.5(COL4A4):c.1988-21G>A rs377358595 0.00001
NM_000092.5(COL4A4):c.1988-3C>T rs752688851 0.00001
NM_000092.5(COL4A4):c.2045A>G (p.Asp682Gly) rs142093416 0.00001
NM_000092.5(COL4A4):c.2092G>A (p.Gly698Arg) rs1241404192 0.00001
NM_000092.5(COL4A4):c.2123G>T (p.Arg708Ile) rs759828394 0.00001
NM_000092.5(COL4A4):c.228T>G (p.Ile76Met) rs1393470640 0.00001
NM_000092.5(COL4A4):c.2294G>T (p.Gly765Val) rs747881404 0.00001
NM_000092.5(COL4A4):c.2392G>A (p.Gly798Ser) rs760803228 0.00001
NM_000092.5(COL4A4):c.2407C>T (p.Leu803=) rs762646235 0.00001
NM_000092.5(COL4A4):c.242C>A (p.Ala81Asp) rs747022394 0.00001
NM_000092.5(COL4A4):c.2549C>T (p.Ala850Val) rs758199486 0.00001
NM_000092.5(COL4A4):c.2860+3A>C rs1214723450 0.00001
NM_000092.5(COL4A4):c.2888G>A (p.Gly963Glu) rs1396467090 0.00001
NM_000092.5(COL4A4):c.3014G>A (p.Gly1005Glu) rs769138971 0.00001
NM_000092.5(COL4A4):c.303A>T (p.Gly101=) rs1450052915 0.00001
NM_000092.5(COL4A4):c.3151-31A>T rs572279679 0.00001
NM_000092.5(COL4A4):c.3214+6G>A rs372554120 0.00001
NM_000092.5(COL4A4):c.3307G>A (p.Gly1103Arg) rs749299357 0.00001
NM_000092.5(COL4A4):c.3581T>C (p.Leu1194Ser) rs554736387 0.00001
NM_000092.5(COL4A4):c.3805G>C (p.Asp1269His) rs763515232 0.00001
NM_000092.5(COL4A4):c.3990G>A (p.Pro1330=) rs62189848 0.00001
NM_000092.5(COL4A4):c.4129C>T (p.Arg1377Ter) rs121912861 0.00001
NM_000092.5(COL4A4):c.4273T>C (p.Ser1425Pro) rs764494474 0.00001
NM_000092.5(COL4A4):c.4413C>G (p.His1471Gln) rs1478610555 0.00001
NM_000092.5(COL4A4):c.4643C>T (p.Pro1548Leu) rs761671093 0.00001
NM_000092.5(COL4A4):c.485C>T (p.Pro162Leu) rs901711159 0.00001
NM_000092.5(COL4A4):c.5048G>A (p.Cys1683Tyr) rs1386495377 0.00001
NM_000092.5(COL4A4):c.507G>C (p.Lys169Asn) rs545808060 0.00001
NM_000092.5(COL4A4):c.64G>A (p.Gly22Ser) rs779795137 0.00001
NM_000092.5(COL4A4):c.675dup (p.Gly226fs) rs1553688335 0.00001
NM_000092.4(COL4A4):c.1033delG rs1553681700
NM_000092.5(COL4A4):c.*244C>T rs56196639
NM_000092.5(COL4A4):c.-101-135A>G rs12694712
NM_000092.5(COL4A4):c.-45G>A rs1576874269
NM_000092.5(COL4A4):c.103T>C (p.Tyr35His) rs2063418861
NM_000092.5(COL4A4):c.1074G>C (p.Leu358Phe) rs374680846
NM_000092.5(COL4A4):c.1100-12del rs752715532
NM_000092.5(COL4A4):c.1205-118G>A rs7561347
NM_000092.5(COL4A4):c.1293_1310del (p.Lys434_Gly439del) rs1362664502
NM_000092.5(COL4A4):c.1369+80T>A rs7587373
NM_000092.5(COL4A4):c.1404A>G (p.Gln468=) rs774673142
NM_000092.5(COL4A4):c.142G>C (p.Gly48Arg)
NM_000092.5(COL4A4):c.1459+258_1459+259del rs72091291
NM_000092.5(COL4A4):c.1459+258_1459+265del rs886205279
NM_000092.5(COL4A4):c.1459+260AT[11] rs527917534
NM_000092.5(COL4A4):c.1459+260AT[12] rs527917534
NM_000092.5(COL4A4):c.1459+260AT[9] rs527917534
NM_000092.5(COL4A4):c.1460G>A (p.Gly487Glu) rs1064796418
NM_000092.5(COL4A4):c.1464T>G (p.Asn488Lys) rs2059739807
NM_000092.5(COL4A4):c.1487C>T (p.Pro496Leu) rs2150596608
NM_000092.5(COL4A4):c.1551G>T (p.Leu517Phe)
NM_000092.5(COL4A4):c.169T>C (p.Cys57Arg)
NM_000092.5(COL4A4):c.1757A>G (p.His586Arg)
NM_000092.5(COL4A4):c.1774G>C (p.Ala592Pro)
NM_000092.5(COL4A4):c.1804-182AT[7] rs202009202
NM_000092.5(COL4A4):c.1804-7T>G rs2150477819
NM_000092.5(COL4A4):c.1889del (p.Pro630fs) rs757688183
NM_000092.5(COL4A4):c.1987+184dup rs768453060
NM_000092.5(COL4A4):c.1987+213TTCTTT[2] rs139922960
NM_000092.5(COL4A4):c.1988-222G>A rs3765192
NM_000092.5(COL4A4):c.2056+292_2056+293del rs56292638
NM_000092.5(COL4A4):c.2056+293del rs56292638
NM_000092.5(COL4A4):c.2056+55_2056+56del rs35717623
NM_000092.5(COL4A4):c.2056+56del rs35717623
NM_000092.5(COL4A4):c.2060C>T (p.Pro687Leu)
NM_000092.5(COL4A4):c.2124A>T (p.Arg708Ser) rs2150287552
NM_000092.5(COL4A4):c.2165-13del rs140965334
NM_000092.5(COL4A4):c.2165-26dup rs200590191
NM_000092.5(COL4A4):c.2195T>A (p.Phe732Tyr)
NM_000092.5(COL4A4):c.2208G>C (p.Lys736Asn) rs1976364730
NM_000092.5(COL4A4):c.2219dup (p.Val741fs) rs141127013
NM_000092.5(COL4A4):c.2303G>T (p.Gly768Val)
NM_000092.5(COL4A4):c.2367A>T (p.Gly789=) rs56247709
NM_000092.5(COL4A4):c.2384-88_2384-87del rs61412063
NM_000092.5(COL4A4):c.2402G>T (p.Gly801Val) rs200814061
NM_000092.5(COL4A4):c.2420del (p.Gly807fs) rs786205640
NM_000092.5(COL4A4):c.2459T>A (p.Val820Asp)
NM_000092.5(COL4A4):c.2546-235del rs56950101
NM_000092.5(COL4A4):c.2628_2654dup (p.Arg877_Gly885dup) rs1553641597
NM_000092.5(COL4A4):c.2647C>A (p.Pro883Thr) rs200761108
NM_000092.5(COL4A4):c.2716+142C>G rs143532392
NM_000092.5(COL4A4):c.2734G>A (p.Gly912Ser) rs1553640846
NM_000092.5(COL4A4):c.273A>G (p.Lys91=)
NM_000092.5(COL4A4):c.2776G>A (p.Glu926Lys)
NM_000092.5(COL4A4):c.2860+158A>C rs56335810
NM_000092.5(COL4A4):c.2963A>G (p.Glu988Gly) rs1200638480
NM_000092.5(COL4A4):c.2968+102dup rs556605463
NM_000092.5(COL4A4):c.2968+113del rs556605463
NM_000092.5(COL4A4):c.2971G>C (p.Asp991His)
NM_000092.5(COL4A4):c.3083C>T (p.Pro1028Leu) rs1403780482
NM_000092.5(COL4A4):c.3200C>T (p.Ala1067Val) rs1392922149
NM_000092.5(COL4A4):c.3214+129G>C rs2272203
NM_000092.5(COL4A4):c.3290-138C>A rs115644162
NM_000092.5(COL4A4):c.3301G>T (p.Ala1101Ser) rs2150103907
NM_000092.5(COL4A4):c.3306C>G (p.Ser1102=) rs200065408
NM_000092.5(COL4A4):c.3309A>C (p.Gly1103=)
NM_000092.5(COL4A4):c.334A>G (p.Thr112Ala) rs1649155828
NM_000092.5(COL4A4):c.3357G>C (p.Arg1119Ser)
NM_000092.5(COL4A4):c.3398-325GTTT[3] rs146714657
NM_000092.5(COL4A4):c.3450T>C (p.Pro1150=) rs751859861
NM_000092.5(COL4A4):c.3460G>A (p.Gly1154Ser) rs2150094978
NM_000092.5(COL4A4):c.3505+296_3505+297del rs1277311489
NM_000092.5(COL4A4):c.3505+300_3505+341del rs1274642645
NM_000092.5(COL4A4):c.3505+308_3505+309dup rs752857780
NM_000092.5(COL4A4):c.3505+310_3505+311del rs373573382
NM_000092.5(COL4A4):c.3505+310_3505+315del rs757722178
NM_000092.5(COL4A4):c.3505+310_3505+319del rs1386256793
NM_000092.5(COL4A4):c.3505+310_3505+323del rs1319231231
NM_000092.5(COL4A4):c.3505+314_3505+315del rs754288940
NM_000092.5(COL4A4):c.3505+343_3505+346del rs775370813
NM_000092.5(COL4A4):c.352C>T (p.Pro118Ser)
NM_000092.5(COL4A4):c.3577+1G>A
NM_000092.5(COL4A4):c.3631G>A (p.Glu1211Lys)
NM_000092.5(COL4A4):c.3643C>G (p.Pro1215Ala)
NM_000092.5(COL4A4):c.3650G>T (p.Ser1217Ile)
NM_000092.5(COL4A4):c.3668C>T (p.Pro1223Leu)
NM_000092.5(COL4A4):c.373-163T>C rs56153742
NM_000092.5(COL4A4):c.3751C>A (p.Pro1251Thr)
NM_000092.5(COL4A4):c.3816A>T (p.Arg1272Ser)
NM_000092.5(COL4A4):c.3817+238G>C rs115452453
NM_000092.5(COL4A4):c.3961G>C (p.Asp1321His) rs1326584789
NM_000092.5(COL4A4):c.3974-12dup rs200823182
NM_000092.5(COL4A4):c.4081+230_4081+234del rs572098495
NM_000092.5(COL4A4):c.4081+252AT[5] rs55816470
NM_000092.5(COL4A4):c.4216+198ATTTT[6] rs58851340
NM_000092.5(COL4A4):c.4216+1del rs1064796549
NM_000092.5(COL4A4):c.4235G>A (p.Gly1412Glu)
NM_000092.5(COL4A4):c.4333+2T>C rs755927061
NM_000092.5(COL4A4):c.4334-3del rs780415519
NM_000092.5(COL4A4):c.4349T>A (p.Ile1450Asn) rs72969704
NM_000092.5(COL4A4):c.4372T>C (p.Phe1458Leu)
NM_000092.5(COL4A4):c.4415G>A (p.Ser1472Asn) rs2149744588
NM_000092.5(COL4A4):c.443C>G (p.Pro148Arg)
NM_000092.5(COL4A4):c.4485C>T (p.Tyr1495=) rs1553613757
NM_000092.5(COL4A4):c.4498G>A (p.Glu1500Lys)
NM_000092.5(COL4A4):c.4664C>T (p.Ser1555Phe) rs2149721513
NM_000092.5(COL4A4):c.4688T>G (p.Val1563Gly) rs2149721235
NM_000092.5(COL4A4):c.4741_4744delinsAAGA (p.Gln1581_Asp1582delinsLysAsn) rs2149720398
NM_000092.5(COL4A4):c.4760C>G (p.Pro1587Arg) rs190148408
NM_000092.5(COL4A4):c.4820del (p.Ala1607fs) rs1559394354
NM_000092.5(COL4A4):c.5007del (p.Thr1669_Leu1670insTer) rs1308677161
NM_000092.5(COL4A4):c.5030G>A (p.Arg1677His)
NM_000092.5(COL4A4):c.558+118C>A rs78106309
NM_000092.5(COL4A4):c.559-300_559-299del rs541059493
NM_000092.5(COL4A4):c.559-9T>G rs1393612363
NM_000092.5(COL4A4):c.594+164G>T rs4306711
NM_000092.5(COL4A4):c.595-258G>A rs149236202
NM_000092.5(COL4A4):c.735+202T>A rs7600536
NM_000092.5(COL4A4):c.735G>C (p.Pro245=) rs923865420
NM_000092.5(COL4A4):c.73T>G (p.Ser25Ala) rs2125348343
NM_000092.5(COL4A4):c.805A>G (p.Lys269Glu) rs2150805428
NM_000092.5(COL4A4):c.816+124del rs375974718
NM_000092.5(COL4A4):c.817-112dup rs111292507
NM_000092.5(COL4A4):c.81_86del (p.27IL[1]) rs771943519
NM_000092.5(COL4A4):c.866G>A (p.Arg289His)
NM_000092.5(COL4A4):c.870+29del rs10707643
NM_000092.5(COL4A4):c.871-1G>C rs375450996
NM_000092.5(COL4A4):c.871-2dup
NM_000092.5(COL4A4):c.871-60_871-38del rs11274738
NM_000092.5(COL4A4):c.879T>A (p.Ser293=) rs2150788345
NM_000092.5(COL4A4):c.914_930+29del rs1553683757
NM_000092.5(COL4A4):c.930+175G>C rs1574391
NM_000092.5(COL4A4):c.930+240C>G rs1574390
NM_000092.5(COL4A4):c.976-36dup rs59443812
NM_000092.5(COL4A4):c.976-3T>C

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