|
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.*4322C>T
|
rs1054413
|
0.50051
|
|
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.*3187G>A
|
rs56324594
|
0.43204
|
|
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.*4602C>G
|
rs1054415
|
0.07424
|
|
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.*581G>A
|
rs79659665
|
0.01689
|
|
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.2545+143T>A
|
rs55915150
|
0.01197
|
|
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.*3690A>G
|
rs149243282
|
0.00945
|
|
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.*841G>A
|
rs11556632
|
0.00854
|
|
NM_000092.5(COL4A4):c.*4164C>T
|
rs147109071
|
0.00850
|
|
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.*472A>T
|
rs77268230
|
0.00670
|
|
NM_000092.5(COL4A4):c.4216+300G>A
|
rs191148534
|
0.00669
|
|
NM_000092.5(COL4A4):c.*2311C>T
|
rs77079951
|
0.00666
|
|
NM_000092.5(COL4A4):c.*2239T>C
|
rs79443960
|
0.00664
|
|
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.*718G>C
|
rs183147767
|
0.00543
|
|
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.*3636C>T
|
rs147995299
|
0.00469
|
|
NM_000092.5(COL4A4):c.*4194C>T
|
rs540904446
|
0.00467
|
|
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.*859A>C
|
rs187539474
|
0.00416
|
|
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.*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_000092.5(COL4A4):c.4090+14T>C
|
rs147376687
|
0.00207
|
|
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.*3269A>G
|
rs185029960
|
0.00188
|
|
NM_000092.5(COL4A4):c.*705T>C
|
rs150289717
|
0.00176
|
|
NM_000092.5(COL4A4):c.1804-41A>T
|
rs148988785
|
0.00165
|
|
NM_000092.5(COL4A4):c.*2647C>T
|
rs139204655
|
0.00161
|
|
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.*4004_*4005del
|
rs532937469
|
0.00119
|
|
NM_000092.4(COL4A4):c.-555G>A
|
rs79908084
|
0.00118
|
|
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.*4173A>T
|
rs529259159
|
0.00086
|
|
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.71+10C>T
|
rs374140251
|
0.00077
|
|
NM_000092.5(COL4A4):c.2399C>G (p.Pro800Arg)
|
rs200714000
|
0.00076
|
|
NM_000092.5(COL4A4):c.736-10T>G
|
rs201175819
|
0.00073
|
|
NM_000092.5(COL4A4):c.*3410_*3411del
|
rs528949461
|
0.00068
|
|
NM_000092.5(COL4A4):c.*3639T>C
|
rs193239835
|
0.00063
|
|
NM_000092.5(COL4A4):c.*1465T>A
|
rs75940419
|
0.00058
|
|
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.*4545A>G
|
rs569924185
|
0.00052
|
|
NM_000092.5(COL4A4):c.3654A>G (p.Pro1218=)
|
rs369708146
|
0.00050
|
|
NM_000092.5(COL4A4):c.2241C>T (p.Pro747=)
|
rs374510402
|
0.00048
|
|
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_000092.5(COL4A4):c.327+130T>G
|
rs530897108
|
0.00043
|
|
NM_000092.5(COL4A4):c.2383+7G>A
|
rs182406906
|
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_000092.5(COL4A4):c.2877C>T (p.Pro959=)
|
rs79470996
|
0.00035
|
|
NM_000092.5(COL4A4):c.-134C>G
|
rs530247030
|
0.00033
|
|
NM_000092.5(COL4A4):c.*1464A>T
|
rs573508041
|
0.00032
|
|
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.541G>T (p.Ala181Ser)
|
rs200707549
|
0.00030
|
|
NM_000092.5(COL4A4):c.3666T>C (p.Pro1222=)
|
rs372838090
|
0.00029
|
|
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_000092.5(COL4A4):c.2629C>T (p.Arg877Trp)
|
rs55948916
|
0.00026
|
|
NM_000092.5(COL4A4):c.*2069T>C
|
rs886055710
|
0.00023
|
|
NM_000092.5(COL4A4):c.*569C>A
|
rs772402371
|
0.00023
|
|
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.865C>T (p.Arg289Cys)
|
rs371904688
|
0.00021
|
|
NM_000092.5(COL4A4):c.*3948C>T
|
rs886055703
|
0.00020
|
|
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.930+11T>C
|
rs531340239
|
0.00020
|
|
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.431C>T (p.Ser144Leu)
|
rs368884003
|
0.00019
|
|
NM_000092.5(COL4A4):c.4715C>T (p.Pro1572Leu)
|
rs121912863
|
0.00019
|
|
NM_000092.5(COL4A4):c.1246C>G (p.Pro416Ala)
|
rs372841765
|
0.00018
|
|
NM_000092.5(COL4A4):c.3885T>C (p.Gly1295=)
|
rs199839937
|
0.00018
|
|
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.1987+16T>A
|
rs532962885
|
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.*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.2840G>A (p.Arg947Gln)
|
rs373540400
|
0.00014
|
|
NM_000092.5(COL4A4):c.4982T>A (p.Phe1661Tyr)
|
rs374119389
|
0.00014
|
|
NM_000092.5(COL4A4):c.1428C>T (p.Pro476=)
|
rs185847845
|
0.00013
|
|
NM_000092.5(COL4A4):c.1624-13A>G
|
rs377386305
|
0.00013
|
|
NM_000092.5(COL4A4):c.1845T>C (p.Pro615=)
|
rs779287922
|
0.00013
|
|
NM_000092.5(COL4A4):c.2346A>G (p.Lys782=)
|
rs199838682
|
0.00013
|
|
NM_000092.5(COL4A4):c.3558A>G (p.Lys1186=)
|
rs778371674
|
0.00013
|
|
NM_000092.5(COL4A4):c.190C>T (p.Arg64Trp)
|
rs200668675
|
0.00012
|
|
NM_000092.5(COL4A4):c.2161C>T (p.Pro721Ser)
|
rs200759521
|
0.00012
|
|
NM_000092.5(COL4A4):c.4590G>A (p.Val1530=)
|
rs141793628
|
0.00012
|
|
NM_000092.5(COL4A4):c.2546-6T>C
|
rs199710625
|
0.00011
|
|
NM_000092.5(COL4A4):c.2906C>G (p.Ser969Ter)
|
rs35138315
|
0.00011
|
|
NM_000092.5(COL4A4):c.338G>A (p.Gly113Asp)
|
rs766085522
|
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.*2422T>C
|
rs892108516
|
0.00010
|
|
NM_000092.5(COL4A4):c.*2945T>C
|
rs886055707
|
0.00010
|
|
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.595-18G>A
|
rs372991861
|
0.00010
|
|
NM_000092.4(COL4A4):c.-641G>A
|
rs1003987615
|
0.00009
|
|
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.2751C>T (p.Pro917=)
|
rs544472944
|
0.00008
|
|
NM_000092.5(COL4A4):c.285G>A (p.Gly95=)
|
rs773796669
|
0.00008
|
|
NM_000092.5(COL4A4):c.2860+13C>T
|
rs374807397
|
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.3732A>C (p.Ala1244=)
|
rs368070110
|
0.00008
|
|
NM_000092.5(COL4A4):c.4678C>T (p.Arg1560Cys)
|
rs200973262
|
0.00008
|
|
NM_000092.5(COL4A4):c.4959A>G (p.Thr1653=)
|
rs574960389
|
0.00008
|
|
NM_000092.5(COL4A4):c.*4347C>T
|
rs190602131
|
0.00007
|
|
NM_000092.5(COL4A4):c.2322T>A (p.Gly774=)
|
rs370383308
|
0.00007
|
|
NM_000092.5(COL4A4):c.2985C>T (p.Pro995=)
|
rs79261248
|
0.00007
|
|
NM_000092.5(COL4A4):c.3471G>T (p.Gly1157=)
|
rs759640112
|
0.00007
|
|
NM_000092.5(COL4A4):c.3532G>A (p.Gly1178Ser)
|
rs780504632
|
0.00007
|
|
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.1129C>T (p.Arg377Cys)
|
rs555143841
|
0.00006
|
|
NM_000092.5(COL4A4):c.1394C>T (p.Pro465Leu)
|
rs200411532
|
0.00006
|
|
NM_000092.5(COL4A4):c.191G>A (p.Arg64Gln)
|
rs371326070
|
0.00006
|
|
NM_000092.5(COL4A4):c.1962C>T (p.Gly654=)
|
rs376448360
|
0.00006
|
|
NM_000092.5(COL4A4):c.2079C>T (p.Pro693=)
|
rs200010601
|
0.00006
|
|
NM_000092.5(COL4A4):c.2170C>T (p.Arg724Cys)
|
rs754398956
|
0.00006
|
|
NM_000092.5(COL4A4):c.2756A>G (p.Glu919Gly)
|
rs753208968
|
0.00006
|
|
NM_000092.5(COL4A4):c.3022G>A (p.Gly1008Arg)
|
rs371172166
|
0.00006
|
|
NM_000092.5(COL4A4):c.3957A>G (p.Gly1319=)
|
rs758115033
|
0.00006
|
|
NM_000092.5(COL4A4):c.4151C>T (p.Ala1384Val)
|
rs199911379
|
0.00006
|
|
NM_000092.5(COL4A4):c.4291C>T (p.Arg1431Cys)
|
rs536570392
|
0.00006
|
|
NM_000092.5(COL4A4):c.4809+10G>A
|
rs761121901
|
0.00006
|
|
NM_000092.5(COL4A4):c.4945A>G (p.Ser1649Gly)
|
rs192411379
|
0.00006
|
|
NM_000092.5(COL4A4):c.4961C>T (p.Thr1654Met)
|
rs771066050
|
0.00006
|
|
NM_000092.5(COL4A4):c.543C>T (p.Ala181=)
|
rs777358824
|
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.975+17A>G
|
rs767294163
|
0.00006
|
|
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.1334G>C (p.Gly445Ala)
|
rs548019779
|
0.00005
|
|
NM_000092.5(COL4A4):c.1630C>T (p.His544Tyr)
|
rs745815071
|
0.00005
|
|
NM_000092.5(COL4A4):c.2164+10_2164+15dup
|
rs1553644265
|
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.2717-19T>C
|
rs188817793
|
0.00005
|
|
NM_000092.5(COL4A4):c.2929C>G (p.Pro977Ala)
|
rs769300622
|
0.00005
|
|
NM_000092.5(COL4A4):c.3151-5G>A
|
rs375631315
|
0.00005
|
|
NM_000092.5(COL4A4):c.4216+11C>T
|
rs117468095
|
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.4525C>T (p.Leu1509=)
|
rs200849651
|
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.4701G>A (p.Ala1567=)
|
rs375189390
|
0.00005
|
|
NM_000092.5(COL4A4):c.4810-15_4810-14del
|
rs776687068
|
0.00005
|
|
NM_000092.5(COL4A4):c.788C>G (p.Pro263Arg)
|
rs369108674
|
0.00005
|
|
NM_000092.5(COL4A4):c.928C>T (p.Arg310Trp)
|
rs200817090
|
0.00005
|
|
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.1624-11T>A
|
rs774394426
|
0.00004
|
|
NM_000092.5(COL4A4):c.1665G>A (p.Ala555=)
|
rs137880920
|
0.00004
|
|
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.2145G>A (p.Ala715=)
|
rs773270107
|
0.00004
|
|
NM_000092.5(COL4A4):c.2320G>C (p.Gly774Arg)
|
rs569681869
|
0.00004
|
|
NM_000092.5(COL4A4):c.2352C>T (p.Pro784=)
|
rs373977276
|
0.00004
|
|
NM_000092.5(COL4A4):c.2516C>T (p.Pro839Leu)
|
rs199562472
|
0.00004
|
|
NM_000092.5(COL4A4):c.2613C>T (p.Leu871=)
|
rs780182097
|
0.00004
|
|
NM_000092.5(COL4A4):c.2717-3C>T
|
rs191634780
|
0.00004
|
|
NM_000092.5(COL4A4):c.2925G>A (p.Gly975=)
|
rs559743197
|
0.00004
|
|
NM_000092.5(COL4A4):c.2986G>A (p.Gly996Arg)
|
rs370474706
|
0.00004
|
|
NM_000092.5(COL4A4):c.3339C>G (p.Pro1113=)
|
rs1306202170
|
0.00004
|
|
NM_000092.5(COL4A4):c.3405C>T (p.His1135=)
|
rs778816965
|
0.00004
|
|
NM_000092.5(COL4A4):c.3644C>T (p.Pro1215Leu)
|
rs189847470
|
0.00004
|
|
NM_000092.5(COL4A4):c.373-18T>G
|
rs978246620
|
0.00004
|
|
NM_000092.5(COL4A4):c.3743G>A (p.Gly1248Glu)
|
rs548799639
|
0.00004
|
|
NM_000092.5(COL4A4):c.4247G>A (p.Arg1416Lys)
|
rs370734150
|
0.00004
|
|
NM_000092.5(COL4A4):c.4287C>T (p.Pro1429=)
|
rs555213853
|
0.00004
|
|
NM_000092.5(COL4A4):c.4394G>A (p.Gly1465Asp)
|
rs533297350
|
0.00004
|
|
NM_000092.5(COL4A4):c.4417C>A (p.Gln1473Lys)
|
rs766771700
|
0.00004
|
|
NM_000092.5(COL4A4):c.4513C>G (p.Gln1505Glu)
|
rs756535060
|
0.00004
|
|
NM_000092.5(COL4A4):c.4640C>T (p.Ala1547Val)
|
rs780916516
|
0.00004
|
|
NM_000092.5(COL4A4):c.4718C>T (p.Ala1573Val)
|
rs762613810
|
0.00004
|
|
NM_000092.5(COL4A4):c.4782C>T (p.Ser1594=)
|
rs200799557
|
0.00004
|
|
NM_000092.5(COL4A4):c.4817G>A (p.Gly1606Glu)
|
rs767901025
|
0.00004
|
|
NM_000092.5(COL4A4):c.4837G>A (p.Gly1613Arg)
|
rs377233046
|
0.00004
|
|
NM_000092.5(COL4A4):c.4962G>A (p.Thr1654=)
|
rs375911030
|
0.00004
|
|
NM_000092.5(COL4A4):c.4975T>C (p.Leu1659=)
|
rs368044748
|
0.00004
|
|
NM_000092.5(COL4A4):c.723A>C (p.Gln241His)
|
rs201673987
|
0.00004
|
|
NM_000092.5(COL4A4):c.90C>T (p.Leu30=)
|
rs747805491
|
0.00004
|
|
NM_000092.5(COL4A4):c.980A>G (p.Glu327Gly)
|
rs375714304
|
0.00004
|
|
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.1471C>T (p.Leu491Phe)
|
rs777805216
|
0.00003
|
|
NM_000092.5(COL4A4):c.1488T>C (p.Pro496=)
|
rs1405969453
|
0.00003
|
|
NM_000092.5(COL4A4):c.2364G>A (p.Pro788=)
|
rs1357401968
|
0.00003
|
|
NM_000092.5(COL4A4):c.2586T>C (p.Pro862=)
|
rs761238651
|
0.00003
|
|
NM_000092.5(COL4A4):c.2649C>T (p.Pro883=)
|
rs1318425498
|
0.00003
|
|
NM_000092.5(COL4A4):c.291C>T (p.Arg97=)
|
rs749441530
|
0.00003
|
|
NM_000092.5(COL4A4):c.3012G>A (p.Pro1004=)
|
rs778433928
|
0.00003
|
|
NM_000092.5(COL4A4):c.3089G>A (p.Gly1030Asp)
|
rs772699709
|
0.00003
|
|
NM_000092.5(COL4A4):c.3150+14G>T
|
rs201486440
|
0.00003
|
|
NM_000092.5(COL4A4):c.3450T>A (p.Pro1150=)
|
rs751859861
|
0.00003
|
|
NM_000092.5(COL4A4):c.3451G>A (p.Gly1151Arg)
|
rs899227425
|
0.00003
|
|
NM_000092.5(COL4A4):c.3505+9A>G
|
rs779884314
|
0.00003
|
|
NM_000092.5(COL4A4):c.3862A>C (p.Arg1288=)
|
rs201667298
|
0.00003
|
|
NM_000092.5(COL4A4):c.390T>C (p.Pro130=)
|
rs540138735
|
0.00003
|
|
NM_000092.5(COL4A4):c.3996G>A (p.Pro1332=)
|
rs1051737695
|
0.00003
|
|
NM_000092.5(COL4A4):c.4021C>A (p.Pro1341Thr)
|
rs539867676
|
0.00003
|
|
NM_000092.5(COL4A4):c.4091-18C>T
|
rs368900542
|
0.00003
|
|
NM_000092.5(COL4A4):c.4091-336C>T
|
rs925971110
|
0.00003
|
|
NM_000092.5(COL4A4):c.4091-356_4091-355dup
|
rs1553620826
|
0.00003
|
|
NM_000092.5(COL4A4):c.4098G>A (p.Pro1366=)
|
rs772611085
|
0.00003
|
|
NM_000092.5(COL4A4):c.4198A>G (p.Arg1400Gly)
|
rs749483911
|
0.00003
|
|
NM_000092.5(COL4A4):c.4314C>T (p.Asp1438=)
|
rs373331310
|
0.00003
|
|
NM_000092.5(COL4A4):c.4422G>A (p.Thr1474=)
|
rs750682352
|
0.00003
|
|
NM_000092.5(COL4A4):c.447G>A (p.Gly149=)
|
rs372746082
|
0.00003
|
|
NM_000092.5(COL4A4):c.4546G>A (p.Val1516Ile)
|
rs199517662
|
0.00003
|
|
NM_000092.5(COL4A4):c.4693C>T (p.Arg1565Cys)
|
rs372161135
|
0.00003
|
|
NM_000092.5(COL4A4):c.4708G>A (p.Glu1570Lys)
|
rs757328549
|
0.00003
|
|
NM_000092.5(COL4A4):c.5029C>T (p.Arg1677Cys)
|
rs759631057
|
0.00003
|
|
NM_000092.5(COL4A4):c.595-8A>C
|
rs753010952
|
0.00003
|
|
NM_000092.5(COL4A4):c.665C>T (p.Pro222Leu)
|
rs773533313
|
0.00003
|
|
NM_000092.5(COL4A4):c.72-18G>A
|
rs770916599
|
0.00003
|
|
NM_000092.5(COL4A4):c.743T>C (p.Val248Ala)
|
rs754031227
|
0.00003
|
|
NM_000092.5(COL4A4):c.858A>G (p.Pro286=)
|
rs374173741
|
0.00003
|
|
NM_000092.5(COL4A4):c.888G>A (p.Gly296=)
|
rs746239973
|
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.1223G>A (p.Gly408Glu)
|
rs1026613471
|
0.00002
|
|
NM_000092.5(COL4A4):c.1276G>A (p.Gly426Arg)
|
rs552375817
|
0.00002
|
|
NM_000092.5(COL4A4):c.1396G>A (p.Gly466Arg)
|
rs201859109
|
0.00002
|
|
NM_000092.5(COL4A4):c.1560T>G (p.Pro520=)
|
rs374935235
|
0.00002
|
|
NM_000092.5(COL4A4):c.1605A>G (p.Glu535=)
|
rs751190779
|
0.00002
|
|
NM_000092.5(COL4A4):c.1697-8A>G
|
rs1248776850
|
0.00002
|
|
NM_000092.5(COL4A4):c.1824C>A (p.Thr608=)
|
rs777982441
|
0.00002
|
|
NM_000092.5(COL4A4):c.1893A>G (p.Gly631=)
|
rs370886041
|
0.00002
|
|
NM_000092.5(COL4A4):c.1987+8T>A
|
rs780277266
|
0.00002
|
|
NM_000092.5(COL4A4):c.1990G>A (p.Asp664Asn)
|
rs201181725
|
0.00002
|
|
NM_000092.5(COL4A4):c.2061G>A (p.Pro687=)
|
rs558925851
|
0.00002
|
|
NM_000092.5(COL4A4):c.2121C>G (p.Gly707=)
|
rs753210825
|
0.00002
|
|
NM_000092.5(COL4A4):c.2242G>A (p.Gly748Ser)
|
rs762139460
|
0.00002
|
|
NM_000092.5(COL4A4):c.2590G>A (p.Gly864Arg)
|
rs937550597
|
0.00002
|
|
NM_000092.5(COL4A4):c.2732C>G (p.Pro911Arg)
|
rs764465049
|
0.00002
|
|
NM_000092.5(COL4A4):c.2752G>A (p.Gly918Arg)
|
rs372606845
|
0.00002
|
|
NM_000092.5(COL4A4):c.2878G>A (p.Gly960Arg)
|
rs769783985
|
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.3117G>A (p.Gly1039=)
|
rs768161234
|
0.00002
|
|
NM_000092.5(COL4A4):c.3355A>G (p.Arg1119Gly)
|
rs778458961
|
0.00002
|
|
NM_000092.5(COL4A4):c.3622C>G (p.Leu1208Val)
|
rs780290586
|
0.00002
|
|
NM_000092.5(COL4A4):c.372+7A>G
|
rs1483461114
|
0.00002
|
|
NM_000092.5(COL4A4):c.3780T>G (p.Pro1260=)
|
rs767134668
|
0.00002
|
|
NM_000092.5(COL4A4):c.3818-6G>T
|
rs751224120
|
0.00002
|
|
NM_000092.5(COL4A4):c.3831T>A (p.Pro1277=)
|
rs985035441
|
0.00002
|
|
NM_000092.5(COL4A4):c.3859C>G (p.Leu1287Val)
|
rs571869797
|
0.00002
|
|
NM_000092.5(COL4A4):c.3974-13G>T
|
rs754559367
|
0.00002
|
|
NM_000092.5(COL4A4):c.3974-4_3974-3insG
|
rs1553624204
|
0.00002
|
|
NM_000092.5(COL4A4):c.4091-330T>C
|
rs774439386
|
0.00002
|
|
NM_000092.5(COL4A4):c.4176A>C (p.Gly1392=)
|
rs753458224
|
0.00002
|
|
NM_000092.5(COL4A4):c.4216+9C>T
|
rs777112177
|
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.4334-15C>T
|
rs576286250
|
0.00002
|
|
NM_000092.5(COL4A4):c.4389C>T (p.Leu1463=)
|
rs757955398
|
0.00002
|
|
NM_000092.5(COL4A4):c.4557G>A (p.Thr1519=)
|
rs746374430
|
0.00002
|
|
NM_000092.5(COL4A4):c.4602C>T (p.Ala1534=)
|
rs1962629899
|
0.00002
|
|
NM_000092.5(COL4A4):c.4641G>A (p.Ala1547=)
|
rs767382436
|
0.00002
|
|
NM_000092.5(COL4A4):c.4694G>A (p.Arg1565His)
|
rs200109045
|
0.00002
|
|
NM_000092.5(COL4A4):c.4725G>A (p.Ala1575=)
|
rs886055724
|
0.00002
|
|
NM_000092.5(COL4A4):c.4809+9C>T
|
rs765888822
|
0.00002
|
|
NM_000092.5(COL4A4):c.481G>C (p.Gly161Arg)
|
rs755961411
|
0.00002
|
|
NM_000092.5(COL4A4):c.4842G>A (p.Gln1614=)
|
rs1041956519
|
0.00002
|
|
NM_000092.5(COL4A4):c.4862G>A (p.Ser1621Asn)
|
rs886055723
|
0.00002
|
|
NM_000092.5(COL4A4):c.490-3C>G
|
rs762040845
|
0.00002
|
|
NM_000092.5(COL4A4):c.4950C>G (p.Phe1650Leu)
|
rs542384685
|
0.00002
|
|
NM_000092.5(COL4A4):c.4971A>G (p.Ala1657=)
|
rs371571953
|
0.00002
|
|
NM_000092.5(COL4A4):c.539G>A (p.Gly180Asp)
|
rs770685084
|
0.00002
|
|
NM_000092.5(COL4A4):c.588C>T (p.Gly196=)
|
rs373389340
|
0.00002
|
|
NM_000092.5(COL4A4):c.702C>T (p.Pro234=)
|
rs1304177788
|
0.00002
|
|
NM_000092.5(COL4A4):c.747T>C (p.Gly249=)
|
rs766511733
|
0.00002
|
|
NM_000092.5(COL4A4):c.861A>G (p.Pro287=)
|
rs747613100
|
0.00002
|
|
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.1036C>T (p.Pro346Ser)
|
rs1042927949
|
0.00001
|
|
NM_000092.5(COL4A4):c.105T>G (p.Tyr35Ter)
|
rs756672670
|
0.00001
|
|
NM_000092.5(COL4A4):c.1118G>A (p.Gly373Glu)
|
rs755649235
|
0.00001
|
|
NM_000092.5(COL4A4):c.1119G>A (p.Gly373=)
|
rs1394330953
|
0.00001
|
|
NM_000092.5(COL4A4):c.1143A>G (p.Thr381=)
|
rs1226600856
|
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.1205-7C>T
|
rs960256162
|
0.00001
|
|
NM_000092.5(COL4A4):c.1225C>T (p.Pro409Ser)
|
rs377292825
|
0.00001
|
|
NM_000092.5(COL4A4):c.123G>C (p.Lys41Asn)
|
rs1162611784
|
0.00001
|
|
NM_000092.5(COL4A4):c.1278G>A (p.Gly426=)
|
rs762769213
|
0.00001
|
|
NM_000092.5(COL4A4):c.133G>T (p.Gly45Cys)
|
rs753016038
|
0.00001
|
|
NM_000092.5(COL4A4):c.1360G>A (p.Gly454Arg)
|
rs1319908269
|
0.00001
|
|
NM_000092.5(COL4A4):c.1369+15A>C
|
rs1216718864
|
0.00001
|
|
NM_000092.5(COL4A4):c.1370-4A>G
|
rs1297917394
|
0.00001
|
|
NM_000092.5(COL4A4):c.1370-5G>T
|
rs752509706
|
0.00001
|
|
NM_000092.5(COL4A4):c.1370-8C>T
|
rs1438509454
|
0.00001
|
|
NM_000092.5(COL4A4):c.1370-9C>T
|
rs757423567
|
0.00001
|
|
NM_000092.5(COL4A4):c.1377C>T (p.Tyr459=)
|
rs376301372
|
0.00001
|
|
NM_000092.5(COL4A4):c.1395C>T (p.Pro465=)
|
rs771419084
|
0.00001
|
|
NM_000092.5(COL4A4):c.1405G>T (p.Gly469Ter)
|
rs926605269
|
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.1494C>T (p.Pro498=)
|
rs779981945
|
0.00001
|
|
NM_000092.5(COL4A4):c.153T>C (p.Asp51=)
|
rs949977701
|
0.00001
|
|
NM_000092.5(COL4A4):c.1579G>T (p.Gly527Cys)
|
rs779930511
|
0.00001
|
|
NM_000092.5(COL4A4):c.1585C>T (p.Pro529Ser)
|
rs2059732638
|
0.00001
|
|
NM_000092.5(COL4A4):c.1587A>G (p.Pro529=)
|
rs769741366
|
0.00001
|
|
NM_000092.5(COL4A4):c.1641T>G (p.Ser547=)
|
rs1173764991
|
0.00001
|
|
NM_000092.5(COL4A4):c.164G>T (p.Cys55Phe)
|
rs570529667
|
0.00001
|
|
NM_000092.5(COL4A4):c.1683A>G (p.Val561=)
|
rs2059358476
|
0.00001
|
|
NM_000092.5(COL4A4):c.1692T>G (p.Val564=)
|
rs766819581
|
0.00001
|
|
NM_000092.5(COL4A4):c.1722T>C (p.Asp574=)
|
rs1415380548
|
0.00001
|
|
NM_000092.5(COL4A4):c.1743G>A (p.Gly581=)
|
rs1288036171
|
0.00001
|
|
NM_000092.5(COL4A4):c.1746G>A (p.Gln582=)
|
rs985432850
|
0.00001
|
|
NM_000092.5(COL4A4):c.1788G>A (p.Gly596=)
|
rs377108110
|
0.00001
|
|
NM_000092.5(COL4A4):c.1792C>A (p.Pro598Thr)
|
rs1411689737
|
0.00001
|
|
NM_000092.5(COL4A4):c.1806G>A (p.Gly602=)
|
rs267599230
|
0.00001
|
|
NM_000092.5(COL4A4):c.1820C>T (p.Ala607Val)
|
rs373916569
|
0.00001
|
|
NM_000092.5(COL4A4):c.1823C>A (p.Thr608Asn)
|
rs747599746
|
0.00001
|
|
NM_000092.5(COL4A4):c.1856G>A (p.Gly619Asp)
|
rs374340855
|
0.00001
|
|
NM_000092.5(COL4A4):c.1884G>A (p.Gly628=)
|
rs761646265
|
0.00001
|
|
NM_000092.5(COL4A4):c.1921C>T (p.Arg641Ter)
|
rs778345125
|
0.00001
|
|
NM_000092.5(COL4A4):c.192G>A (p.Arg64=)
|
rs748152418
|
0.00001
|
|
NM_000092.5(COL4A4):c.193-6T>G
|
rs975148812
|
0.00001
|
|
NM_000092.5(COL4A4):c.193G>A (p.Gly65Ser)
|
rs776036994
|
0.00001
|
|
NM_000092.5(COL4A4):c.1947C>T (p.His649=)
|
rs1378721742
|
0.00001
|
|
NM_000092.5(COL4A4):c.1961G>A (p.Gly654Asp)
|
rs1158615890
|
0.00001
|
|
NM_000092.5(COL4A4):c.1963C>T (p.Pro655Ser)
|
rs886055726
|
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.2007C>T (p.Asn669=)
|
rs754769010
|
0.00001
|
|
NM_000092.5(COL4A4):c.2045A>G (p.Asp682Gly)
|
rs142093416
|
0.00001
|
|
NM_000092.5(COL4A4):c.2049A>G (p.Gly683=)
|
rs377610892
|
0.00001
|
|
NM_000092.5(COL4A4):c.2085T>C (p.Gly695=)
|
rs750034156
|
0.00001
|
|
NM_000092.5(COL4A4):c.2092G>A (p.Gly698Arg)
|
rs1241404192
|
0.00001
|
|
NM_000092.5(COL4A4):c.2109T>C (p.Asp703=)
|
rs756788225
|
0.00001
|
|
NM_000092.5(COL4A4):c.2123G>T (p.Arg708Ile)
|
rs759828394
|
0.00001
|
|
NM_000092.5(COL4A4):c.2182G>A (p.Gly728Arg)
|
rs202243658
|
0.00001
|
|
NM_000092.5(COL4A4):c.2193T>G (p.Gly731=)
|
rs778524697
|
0.00001
|
|
NM_000092.5(COL4A4):c.2235C>T (p.Gly745=)
|
rs1159625886
|
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.2312G>A (p.Gly771Glu)
|
rs781660254
|
0.00001
|
|
NM_000092.5(COL4A4):c.2347G>A (p.Gly783Arg)
|
rs879255339
|
0.00001
|
|
NM_000092.5(COL4A4):c.2373A>G (p.Pro791=)
|
rs774068275
|
0.00001
|
|
NM_000092.5(COL4A4):c.2378C>T (p.Ala793Val)
|
rs377676207
|
0.00001
|
|
NM_000092.5(COL4A4):c.2379T>C (p.Ala793=)
|
rs1976319114
|
0.00001
|
|
NM_000092.5(COL4A4):c.2383+3A>G
|
rs1351961379
|
0.00001
|
|
NM_000092.5(COL4A4):c.2383+9G>C
|
rs746435134
|
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.2436G>A (p.Glu812=)
|
rs1331695045
|
0.00001
|
|
NM_000092.5(COL4A4):c.2510G>C (p.Gly837Ala)
|
rs201648982
|
0.00001
|
|
NM_000092.5(COL4A4):c.2511G>A (p.Gly837=)
|
rs767522216
|
0.00001
|
|
NM_000092.5(COL4A4):c.2517G>A (p.Pro839=)
|
rs751351403
|
0.00001
|
|
NM_000092.5(COL4A4):c.2549C>T (p.Ala850Val)
|
rs758199486
|
0.00001
|
|
NM_000092.5(COL4A4):c.2571G>A (p.Pro857=)
|
rs759148219
|
0.00001
|
|
NM_000092.5(COL4A4):c.2595A>T (p.Pro865=)
|
rs774896355
|
0.00001
|
|
NM_000092.5(COL4A4):c.2616C>T (p.Pro872=)
|
rs1048042338
|
0.00001
|
|
NM_000092.5(COL4A4):c.2617G>A (p.Gly873Arg)
|
rs929684384
|
0.00001
|
|
NM_000092.5(COL4A4):c.2619A>G (p.Gly873=)
|
rs769770490
|
0.00001
|
|
NM_000092.5(COL4A4):c.261T>G (p.Leu87=)
|
rs770559348
|
0.00001
|
|
NM_000092.5(COL4A4):c.2625A>T (p.Pro875=)
|
rs559787579
|
0.00001
|
|
NM_000092.5(COL4A4):c.2628A>G (p.Gly876=)
|
rs777707226
|
0.00001
|
|
NM_000092.5(COL4A4):c.2634T>C (p.Pro878=)
|
rs778726024
|
0.00001
|
|
NM_000092.5(COL4A4):c.264A>G (p.Ser88=)
|
rs746574978
|
0.00001
|
|
NM_000092.5(COL4A4):c.2690G>A (p.Gly897Glu)
|
rs121912860
|
0.00001
|
|
NM_000092.5(COL4A4):c.26T>A (p.Met9Lys)
|
rs1440047357
|
0.00001
|
|
NM_000092.5(COL4A4):c.2716+13T>C
|
rs1262586957
|
0.00001
|
|
NM_000092.5(COL4A4):c.2716+7A>G
|
rs1975228366
|
0.00001
|
|
NM_000092.5(COL4A4):c.2717-6C>T
|
rs1178831425
|
0.00001
|
|
NM_000092.5(COL4A4):c.2826C>G (p.Gly942=)
|
rs1169574932
|
0.00001
|
|
NM_000092.5(COL4A4):c.2839C>T (p.Arg947Trp)
|
rs572872038
|
0.00001
|
|
NM_000092.5(COL4A4):c.2860+3A>C
|
rs1214723450
|
0.00001
|
|
NM_000092.5(COL4A4):c.2861-9T>C
|
rs1974314307
|
0.00001
|
|
NM_000092.5(COL4A4):c.2888G>A (p.Gly963Glu)
|
rs1396467090
|
0.00001
|
|
NM_000092.5(COL4A4):c.2898T>A (p.Ala966=)
|
rs900252227
|
0.00001
|
|
NM_000092.5(COL4A4):c.2969-10A>G
|
rs1576130915
|
0.00001
|
|
NM_000092.5(COL4A4):c.3014G>A (p.Gly1005Glu)
|
rs769138971
|
0.00001
|
|
NM_000092.5(COL4A4):c.3021C>T (p.Tyr1007=)
|
rs746105339
|
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.3159A>G (p.Pro1053=)
|
rs1458514866
|
0.00001
|
|
NM_000092.5(COL4A4):c.3210T>G (p.Pro1070=)
|
rs1334079530
|
0.00001
|
|
NM_000092.5(COL4A4):c.3214+6G>A
|
rs372554120
|
0.00001
|
|
NM_000092.5(COL4A4):c.3290-6C>T
|
rs915949778
|
0.00001
|
|
NM_000092.5(COL4A4):c.3307G>A (p.Gly1103Arg)
|
rs749299357
|
0.00001
|
|
NM_000092.5(COL4A4):c.3317G>A (p.Gly1106Asp)
|
rs1559482299
|
0.00001
|
|
NM_000092.5(COL4A4):c.3351T>C (p.Pro1117=)
|
rs747784952
|
0.00001
|
|
NM_000092.5(COL4A4):c.3369T>G (p.Pro1123=)
|
rs986546093
|
0.00001
|
|
NM_000092.5(COL4A4):c.3390G>T (p.Gly1130=)
|
rs774821528
|
0.00001
|
|
NM_000092.5(COL4A4):c.3420G>A (p.Leu1140=)
|
rs755709084
|
0.00001
|
|
NM_000092.5(COL4A4):c.3434G>A (p.Gly1145Glu)
|
rs1260916310
|
0.00001
|
|
NM_000092.5(COL4A4):c.3452G>C (p.Gly1151Ala)
|
rs371803356
|
0.00001
|
|
NM_000092.5(COL4A4):c.3495G>A (p.Pro1165=)
|
rs774011820
|
0.00001
|
|
NM_000092.5(COL4A4):c.3506-8T>G
|
rs761588725
|
0.00001
|
|
NM_000092.5(COL4A4):c.3510C>T (p.Pro1170=)
|
rs1269458234
|
0.00001
|
|
NM_000092.5(COL4A4):c.3513C>T (p.Ser1171=)
|
rs762812157
|
0.00001
|
|
NM_000092.5(COL4A4):c.3522T>G (p.Pro1174=)
|
rs775477147
|
0.00001
|
|
NM_000092.5(COL4A4):c.3544T>C (p.Leu1182=)
|
rs974232055
|
0.00001
|
|
NM_000092.5(COL4A4):c.3552T>C (p.Gly1184=)
|
rs1575931514
|
0.00001
|
|
NM_000092.5(COL4A4):c.3577+14C>T
|
rs370328730
|
0.00001
|
|
NM_000092.5(COL4A4):c.3581T>C (p.Leu1194Ser)
|
rs554736387
|
0.00001
|
|
NM_000092.5(COL4A4):c.3590T>C (p.Val1197Ala)
|
rs946572297
|
0.00001
|
|
NM_000092.5(COL4A4):c.3706+13A>G
|
rs754923656
|
0.00001
|
|
NM_000092.5(COL4A4):c.3734G>T (p.Gly1245Val)
|
rs1189502123
|
0.00001
|
|
NM_000092.5(COL4A4):c.375G>A (p.Gly125=)
|
rs369753569
|
0.00001
|
|
NM_000092.5(COL4A4):c.3771G>A (p.Pro1257=)
|
rs1384523881
|
0.00001
|
|
NM_000092.5(COL4A4):c.3805G>C (p.Asp1269His)
|
rs763515232
|
0.00001
|
|
NM_000092.5(COL4A4):c.3817+7G>A
|
rs1968510366
|
0.00001
|
|
NM_000092.5(COL4A4):c.3828G>A (p.Gly1276=)
|
rs765644543
|
0.00001
|
|
NM_000092.5(COL4A4):c.3918A>G (p.Pro1306=)
|
rs777256419
|
0.00001
|
|
NM_000092.5(COL4A4):c.3978A>G (p.Pro1326=)
|
rs780675797
|
0.00001
|
|
NM_000092.5(COL4A4):c.3984A>T (p.Gly1328=)
|
rs750748339
|
0.00001
|
|
NM_000092.5(COL4A4):c.3990G>A (p.Pro1330=)
|
rs62189848
|
0.00001
|
|
NM_000092.5(COL4A4):c.4038T>C (p.Gly1346=)
|
rs565940301
|
0.00001
|
|
NM_000092.5(COL4A4):c.4049C>T (p.Pro1350Leu)
|
rs771916354
|
0.00001
|
|
NM_000092.5(COL4A4):c.4053A>G (p.Pro1351=)
|
rs1553624041
|
0.00001
|
|
NM_000092.5(COL4A4):c.4070C>T (p.Thr1357Ile)
|
rs1258564025
|
0.00001
|
|
NM_000092.5(COL4A4):c.4081+7T>C
|
rs779775976
|
0.00001
|
|
NM_000092.5(COL4A4):c.4081+9C>G
|
rs201688381
|
0.00001
|
|
NM_000092.5(COL4A4):c.4090+9T>G
|
rs1403373167
|
0.00001
|
|
NM_000092.5(COL4A4):c.4091G>T (p.Gly1364Val)
|
rs770364064
|
0.00001
|
|
NM_000092.5(COL4A4):c.410G>A (p.Gly137Asp)
|
rs377511303
|
0.00001
|
|
NM_000092.5(COL4A4):c.4113T>C (p.Asp1371=)
|
rs1226486231
|
0.00001
|
|
NM_000092.5(COL4A4):c.4116G>A (p.Val1372=)
|
rs1210526365
|
0.00001
|
|
NM_000092.5(COL4A4):c.4122C>T (p.Asp1374=)
|
rs117181365
|
0.00001
|
|
NM_000092.5(COL4A4):c.4122del (p.Cys1375fs)
|
rs1162601696
|
0.00001
|
|
NM_000092.5(COL4A4):c.4126C>T (p.Pro1376Ser)
|
rs780131074
|
0.00001
|
|
NM_000092.5(COL4A4):c.4129C>T (p.Arg1377Ter)
|
rs121912861
|
0.00001
|
|
NM_000092.5(COL4A4):c.4130G>A (p.Arg1377Gln)
|
rs559719653
|
0.00001
|
|
NM_000092.5(COL4A4):c.4191T>C (p.Pro1397=)
|
rs574030269
|
0.00001
|
|
NM_000092.5(COL4A4):c.420C>T (p.Gly140=)
|
rs373582793
|
0.00001
|
|
NM_000092.5(COL4A4):c.4217-9T>C
|
rs1385812908
|
0.00001
|
|
NM_000092.5(COL4A4):c.4217G>C (p.Gly1406Ala)
|
rs1364711591
|
0.00001
|
|
NM_000092.5(COL4A4):c.4218G>T (p.Gly1406=)
|
rs1329816117
|
0.00001
|
|
NM_000092.5(COL4A4):c.4263C>T (p.Gly1421=)
|
rs750090423
|
0.00001
|
|
NM_000092.5(COL4A4):c.4272G>A (p.Gly1424=)
|
rs751130458
|
0.00001
|
|
NM_000092.5(COL4A4):c.4273T>C (p.Ser1425Pro)
|
rs764494474
|
0.00001
|
|
NM_000092.5(COL4A4):c.4288G>A (p.Gly1430Arg)
|
rs775926807
|
0.00001
|
|
NM_000092.5(COL4A4):c.4333+3A>G
|
rs1455105815
|
0.00001
|
|
NM_000092.5(COL4A4):c.438T>C (p.Gly146=)
|
rs1345200624
|
0.00001
|
|
NM_000092.5(COL4A4):c.43T>C (p.Leu15=)
|
rs747209259
|
0.00001
|
|
NM_000092.5(COL4A4):c.4412A>C (p.His1471Pro)
|
rs762796207
|
0.00001
|
|
NM_000092.5(COL4A4):c.4413C>G (p.His1471Gln)
|
rs1478610555
|
0.00001
|
|
NM_000092.5(COL4A4):c.4423G>T (p.Asp1475Tyr)
|
rs767457222
|
0.00001
|
|
NM_000092.5(COL4A4):c.4449_4450dup (p.Met1484fs)
|
rs761200469
|
0.00001
|
|
NM_000092.5(COL4A4):c.4522+17G>A
|
rs751572058
|
0.00001
|
|
NM_000092.5(COL4A4):c.4522G>A (p.Gly1508Ser)
|
rs1003748020
|
0.00001
|
|
NM_000092.5(COL4A4):c.4523-4C>A
|
rs760600045
|
0.00001
|
|
NM_000092.5(COL4A4):c.4599T>C (p.Tyr1533=)
|
rs369922627
|
0.00001
|
|
NM_000092.5(COL4A4):c.4611C>T (p.Asn1537=)
|
rs1458127052
|
0.00001
|
|
NM_000092.5(COL4A4):c.4623C>G (p.Tyr1541Ter)
|
rs891854419
|
0.00001
|
|
NM_000092.5(COL4A4):c.4624T>C (p.Trp1542Arg)
|
rs1161192021
|
0.00001
|
|
NM_000092.5(COL4A4):c.4635C>T (p.Ser1545=)
|
rs562769008
|
0.00001
|
|
NM_000092.5(COL4A4):c.4643C>T (p.Pro1548Leu)
|
rs761671093
|
0.00001
|
|
NM_000092.5(COL4A4):c.4668A>G (p.Glu1556=)
|
rs769205335
|
0.00001
|
|
NM_000092.5(COL4A4):c.4673C>T (p.Ala1558Val)
|
rs760044982
|
0.00001
|
|
NM_000092.5(COL4A4):c.4692C>T (p.Ser1564=)
|
rs1424670300
|
0.00001
|
|
NM_000092.5(COL4A4):c.4716G>A (p.Pro1572=)
|
rs763806595
|
0.00001
|
|
NM_000092.5(COL4A4):c.475C>T (p.Pro159Ser)
|
rs760873029
|
0.00001
|
|
NM_000092.5(COL4A4):c.4764T>C (p.Cys1588=)
|
rs1184642885
|
0.00001
|
|
NM_000092.5(COL4A4):c.4766C>T (p.Pro1589Leu)
|
rs768974023
|
0.00001
|
|
NM_000092.5(COL4A4):c.4767G>A (p.Pro1589=)
|
rs749368219
|
0.00001
|
|
NM_000092.5(COL4A4):c.4777A>C (p.Arg1593=)
|
rs757200282
|
0.00001
|
|
NM_000092.5(COL4A4):c.4779G>A (p.Arg1593=)
|
rs751561029
|
0.00001
|
|
NM_000092.5(COL4A4):c.4787G>A (p.Trp1596Ter)
|
rs1222429942
|
0.00001
|
|
NM_000092.5(COL4A4):c.4788G>A (p.Trp1596Ter)
|
rs758096259
|
0.00001
|
|
NM_000092.5(COL4A4):c.4791C>T (p.Ile1597=)
|
rs752585800
|
0.00001
|
|
NM_000092.5(COL4A4):c.4792G>A (p.Gly1598Arg)
|
rs1403779580
|
0.00001
|
|
NM_000092.5(COL4A4):c.4794G>A (p.Gly1598=)
|
rs764782090
|
0.00001
|
|
NM_000092.5(COL4A4):c.4803C>T (p.Phe1601=)
|
rs754693636
|
0.00001
|
|
NM_000092.5(COL4A4):c.4808T>C (p.Met1603Thr)
|
rs377058706
|
0.00001
|
|
NM_000092.5(COL4A4):c.4829A>G (p.Gln1610Arg)
|
rs369714481
|
0.00001
|
|
NM_000092.5(COL4A4):c.483C>T (p.Gly161=)
|
rs780643470
|
0.00001
|
|
NM_000092.5(COL4A4):c.4858G>A (p.Gly1620Ser)
|
rs1271416659
|
0.00001
|
|
NM_000092.5(COL4A4):c.485C>T (p.Pro162Leu)
|
rs901711159
|
0.00001
|
|
NM_000092.5(COL4A4):c.489+1G>A
|
rs1040287646
|
0.00001
|
|
NM_000092.5(COL4A4):c.4910G>A (p.Arg1637Gln)
|
rs937092831
|
0.00001
|
|
NM_000092.5(COL4A4):c.4915G>C (p.Gly1639Arg)
|
rs749899964
|
0.00001
|
|
NM_000092.5(COL4A4):c.4947C>T (p.Ser1649=)
|
rs918428666
|
0.00001
|
|
NM_000092.5(COL4A4):c.4956C>T (p.Leu1652=)
|
rs759807783
|
0.00001
|
|
NM_000092.5(COL4A4):c.498T>G (p.Pro166=)
|
rs775512192
|
0.00001
|
|
NM_000092.5(COL4A4):c.5015A>C (p.Glu1672Ala)
|
rs1354826968
|
0.00001
|
|
NM_000092.5(COL4A4):c.5019C>T (p.Ser1673=)
|
rs753042648
|
0.00001
|
|
NM_000092.5(COL4A4):c.5044C>T (p.Arg1682Trp)
|
rs766550724
|
0.00001
|
|
NM_000092.5(COL4A4):c.5048G>A (p.Cys1683Tyr)
|
rs1386495377
|
0.00001
|
|
NM_000092.5(COL4A4):c.5058C>T (p.Cys1686=)
|
rs1485012691
|
0.00001
|
|
NM_000092.5(COL4A4):c.5073G>C (p.Ter1691Tyr)
|
rs769660371
|
0.00001
|
|
NM_000092.5(COL4A4):c.507G>C (p.Lys169Asn)
|
rs545808060
|
0.00001
|
|
NM_000092.5(COL4A4):c.559-2A>G
|
rs766243664
|
0.00001
|
|
NM_000092.5(COL4A4):c.559-2A>T
|
rs766243664
|
0.00001
|
|
NM_000092.5(COL4A4):c.559-9T>C
|
rs1393612363
|
0.00001
|
|
NM_000092.5(COL4A4):c.594+18G>A
|
rs746195437
|
0.00001
|
|
NM_000092.5(COL4A4):c.595-7T>A
|
rs765195717
|
0.00001
|
|
NM_000092.5(COL4A4):c.614G>T (p.Gly205Val)
|
rs2061040474
|
0.00001
|
|
NM_000092.5(COL4A4):c.618G>A (p.Pro206=)
|
rs1412497152
|
0.00001
|
|
NM_000092.5(COL4A4):c.620C>T (p.Ala207Val)
|
rs369698515
|
0.00001
|
|
NM_000092.5(COL4A4):c.641G>A (p.Gly214Glu)
|
rs2061038363
|
0.00001
|
|
NM_000092.5(COL4A4):c.64G>A (p.Gly22Ser)
|
rs779795137
|
0.00001
|
|
NM_000092.5(COL4A4):c.657+8C>T
|
rs748310077
|
0.00001
|
|
NM_000092.5(COL4A4):c.658-9T>C
|
rs765980443
|
0.00001
|
|
NM_000092.5(COL4A4):c.661C>T (p.Pro221Ser)
|
rs1261138757
|
0.00001
|
|
NM_000092.5(COL4A4):c.673C>A (p.Pro225Thr)
|
rs370606294
|
0.00001
|
|
NM_000092.5(COL4A4):c.675dup (p.Gly226fs)
|
rs1553688335
|
0.00001
|
|
NM_000092.5(COL4A4):c.693+7A>G
|
rs775757944
|
0.00001
|
|
NM_000092.5(COL4A4):c.734C>T (p.Pro245Leu)
|
rs770011392
|
0.00001
|
|
NM_000092.5(COL4A4):c.735+2T>C
|
rs2060993180
|
0.00001
|
|
NM_000092.5(COL4A4):c.735G>A (p.Pro245=)
|
rs923865420
|
0.00001
|
|
NM_000092.5(COL4A4):c.741G>A (p.Glu247=)
|
rs759872208
|
0.00001
|
|
NM_000092.5(COL4A4):c.754G>A (p.Gly252Ser)
|
rs2060673883
|
0.00001
|
|
NM_000092.5(COL4A4):c.755G>T (p.Gly252Val)
|
rs760795817
|
0.00001
|
|
NM_000092.5(COL4A4):c.780A>G (p.Val260=)
|
rs769617858
|
0.00001
|
|
NM_000092.5(COL4A4):c.817G>T (p.Gly273Cys)
|
rs762043158
|
0.00001
|
|
NM_000092.5(COL4A4):c.832C>T (p.Pro278Ser)
|
rs1576522703
|
0.00001
|
|
NM_000092.5(COL4A4):c.871-6T>C
|
rs749753913
|
0.00001
|
|
NM_000092.5(COL4A4):c.88C>T (p.Leu30Phe)
|
rs758174051
|
0.00001
|
|
NM_000092.5(COL4A4):c.933G>A (p.Gly311=)
|
rs778118362
|
0.00001
|
|
NM_000092.5(COL4A4):c.975+1G>A
|
rs1553683192
|
0.00001
|
|
GRCh37/hg19 2q36.3(chr2:227892619-227912144)x1
|
|
|
|
GRCh37/hg19 2q36.3(chr2:227892619-227912237)x1
|
|
|
|
GRCh37/hg19 2q36.3(chr2:227892658-227912247)x1
|
|
|
|
GRCh37/hg19 2q36.3(chr2:227911037-227912247)x1
|
|
|
|
GRCh37/hg19 2q36.3(chr2:227939002-227943108)
|
|
|
|
GRCh37/hg19 2q36.3(chr2:227942610-227945265)
|
|
|
|
NC_000002.11:g.(?_227872031)_(227873030_?)del
|
|
|
|
NC_000002.11:g.(?_227872031)_(227985874_?)del
|
|
|
|
NC_000002.11:g.(?_227872041)_(227872324_?)del
|
|
|
|
NC_000002.11:g.(?_227886744)_(227890546_?)del
|
|
|
|
NC_000002.11:g.(?_227890498)_(227890546_?)del
|
|
|
|
NC_000002.11:g.(?_227892598)_(227974022_?)del
|
|
|
|
NC_000002.11:g.(?_227912181)_(227912275_?)del
|
|
|
|
NC_000002.11:g.(?_227914764)_(227917148_?)del
|
|
|
|
NC_000002.11:g.(?_227917001)_(227924979_?)del
|
|
|
|
NC_000002.11:g.(?_227922145)_(227927324_?)del
|
|
|
|
NC_000002.11:g.(?_227945139)_(227976449_?)del
|
|
|
|
NC_000002.11:g.(?_227945159)_(228012196_?)dup
|
|
|
|
NC_000002.11:g.(?_227946811)_(227954693_?)dup
|
|
|
|
NC_000002.11:g.(?_227946821)_(227946913_?)del
|
|
|
|
NC_000002.11:g.(?_227946821)_(227964415_?)dup
|
|
|
|
NC_000002.11:g.(?_227946831)_(227954673_?)dup
|
|
|
|
NC_000002.11:g.(?_227963400)_(227966635_?)del
|
|
|
|
NC_000002.11:g.(?_227973277)_(227974022_?)del
|
|
|
|
NC_000002.12:g.(?_227147403)_(227147493_?)del
|
|
|
|
NC_000002.12:g.227094281_227094290del
|
rs2150688207
|
|
|
NC_000002.12:g.227101910del
|
|
|
|
NM_000092.4(COL4A4):c.-301C>T
|
rs2065101251
|
|
|
NM_000092.4(COL4A4):c.-527G>A
|
rs886055732
|
|
|
NM_000092.4(COL4A4):c.1033delG
|
rs1553681700
|
|
|
NM_000092.4(COL4A4):c.1321_1369+3del
|
rs1553676221
|
|
|
NM_000092.4(COL4A4):c.2100_2102delinsGTGT (p.Ser700fs)
|
rs1553644383
|
|
|
NM_000092.4(COL4A4):c.2385del
|
rs1975778377
|
|
|
NM_000092.4(COL4A4):c.3861delinsCTC (p.Arg1288fs)
|
rs1575895541
|
|
|
NM_000092.4(COL4A4):c.559_562dup (p.Asp188Glyfs)
|
rs1553690604
|
|
|
NM_000092.4(COL4A4):c.[1320_1369+2del];[2320G>C]
|
|
|
|
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.-101-135A>G
|
rs12694712
|
|
|
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.-45G>A
|
rs1576874269
|
|
|
NM_000092.5(COL4A4):c.-9T>C
|
|
|
|
NM_000092.5(COL4A4):c.1005G>T (p.Gly335=)
|
|
|
|
NM_000092.5(COL4A4):c.1007T>C (p.Leu336Pro)
|
rs2150773325
|
|
|
NM_000092.5(COL4A4):c.1022G>A (p.Gly341Asp)
|
|
|
|
NM_000092.5(COL4A4):c.1027A>T (p.Lys343Ter)
|
rs2060519888
|
|
|
NM_000092.5(COL4A4):c.1028A>C (p.Lys343Thr)
|
|
|
|
NM_000092.5(COL4A4):c.1029+11A>G
|
|
|
|
NM_000092.5(COL4A4):c.1029+12G>A
|
|
|
|
NM_000092.5(COL4A4):c.1029+14C>T
|
|
|
|
NM_000092.5(COL4A4):c.1029+16A>G
|
|
|
|
NM_000092.5(COL4A4):c.1029+16A>T
|
|
|
|
NM_000092.5(COL4A4):c.1029+2T>C
|
rs1553682895
|
|
|
NM_000092.5(COL4A4):c.1029+7A>T
|
|
|
|
NM_000092.5(COL4A4):c.1030-14A>G
|
rs2060400553
|
|
|
NM_000092.5(COL4A4):c.1030-1G>C
|
rs1559620132
|
|
|
NM_000092.5(COL4A4):c.1030-2A>C
|
rs1553681714
|
|
|
NM_000092.5(COL4A4):c.1030-2del
|
rs2150750057
|
|
|
NM_000092.5(COL4A4):c.1030-8G>C
|
rs1482188865
|
|
|
NM_000092.5(COL4A4):c.1033_1050del (p.Asp345_Gly350del)
|
rs990679247
|
|
|
NM_000092.5(COL4A4):c.103T>C (p.Tyr35His)
|
rs2063418861
|
|
|
NM_000092.5(COL4A4):c.1045C>T (p.Arg349Ter)
|
rs534522842
|
|
|
NM_000092.5(COL4A4):c.1046G>A (p.Arg349Gln)
|
|
|
|
NM_000092.5(COL4A4):c.1048G>A (p.Gly350Arg)
|
|
|
|
NM_000092.5(COL4A4):c.1050G>A (p.Gly350=)
|
rs2060398282
|
|
|
NM_000092.5(COL4A4):c.1051C>T (p.His351Tyr)
|
|
|
|
NM_000092.5(COL4A4):c.1053C>A (p.His351Gln)
|
|
|
|
NM_000092.5(COL4A4):c.105T>C (p.Tyr35=)
|
|
|
|
NM_000092.5(COL4A4):c.1068T>A (p.Gly356=)
|
rs2150749682
|
|
|
NM_000092.5(COL4A4):c.1073T>A (p.Leu358Ter)
|
|
|
|
NM_000092.5(COL4A4):c.1074G>C (p.Leu358Phe)
|
rs374680846
|
|
|
NM_000092.5(COL4A4):c.1087C>T (p.Leu363Phe)
|
|
|
|
NM_000092.5(COL4A4):c.1091C>T (p.Pro364Leu)
|
|
|
|
NM_000092.5(COL4A4):c.1098A>G (p.Lys366=)
|
rs1305609812
|
|
|
NM_000092.5(COL4A4):c.1099+10C>G
|
|
|
|
NM_000092.5(COL4A4):c.1099+11C>G
|
|
|
|
NM_000092.5(COL4A4):c.1099+13A>C
|
|
|
|
NM_000092.5(COL4A4):c.1099+16C>T
|
|
|
|
NM_000092.5(COL4A4):c.1099+1G>A
|
|
|
|
NM_000092.5(COL4A4):c.1099+1G>T
|
rs1372782305
|
|
|
NM_000092.5(COL4A4):c.1099+5G>A
|
rs2150749299
|
|
|
NM_000092.5(COL4A4):c.1099G>A (p.Gly367Ser)
|
rs764981982
|
|
|
NM_000092.5(COL4A4):c.10_11del (p.Leu4fs)
|
|
|
|
NM_000092.5(COL4A4):c.1100-11del
|
|
|
|
NM_000092.5(COL4A4):c.1100-12del
|
rs752715532
|
|
|
NM_000092.5(COL4A4):c.1100-14A>C
|
|
|
|
NM_000092.5(COL4A4):c.1100-20T>G
|
|
|
|
NM_000092.5(COL4A4):c.1100-2A>C
|
rs869025329
|
|
|
NM_000092.5(COL4A4):c.1100-3C>T
|
|
|
|
NM_000092.5(COL4A4):c.1100-4G>A
|
rs375731786
|
|
|
NM_000092.5(COL4A4):c.1100-5G>C
|
rs960395686
|
|
|
NM_000092.5(COL4A4):c.1100-9C>T
|
|
|
|
NM_000092.5(COL4A4):c.1101C>A (p.Gly367=)
|
|
|
|
NM_000092.5(COL4A4):c.1101C>T (p.Gly367=)
|
|
|
|
NM_000092.5(COL4A4):c.1108G>A (p.Gly370Arg)
|
rs1559617617
|
|
|
NM_000092.5(COL4A4):c.1108G>C (p.Gly370Arg)
|
|
|
|
NM_000092.5(COL4A4):c.1111G>T (p.Asp371Tyr)
|
|
|
|
NM_000092.5(COL4A4):c.1113C>T (p.Asp371=)
|
rs879099109
|
|
|
NM_000092.5(COL4A4):c.111T>C (p.Tyr37=)
|
|
|
|
NM_000092.5(COL4A4):c.1122C>T (p.Phe374=)
|
rs2150740265
|
|
|
NM_000092.5(COL4A4):c.114+12C>G
|
|
|
|
NM_000092.5(COL4A4):c.114+12C>T
|
|
|
|
NM_000092.5(COL4A4):c.114+14C>A
|
|
|
|
NM_000092.5(COL4A4):c.114+1G>A
|
|
|
|
NM_000092.5(COL4A4):c.114+1G>C
|
rs1553712110
|
|
|
NM_000092.5(COL4A4):c.114+1G>T
|
rs1553712110
|
|
|
NM_000092.5(COL4A4):c.114+8C>T
|
|
|
|
NM_000092.5(COL4A4):c.114+9A>G
|
rs2125347322
|
|
|
NM_000092.5(COL4A4):c.1143_1144del (p.Asp383fs)
|
rs2150739953
|
|
|
NM_000092.5(COL4A4):c.1144G>A (p.Gly382Arg)
|
rs2150739928
|
|
|
NM_000092.5(COL4A4):c.1146G>A (p.Gly382=)
|
|
|
|
NM_000092.5(COL4A4):c.1148A>G (p.Asp383Gly)
|
|
|
|
NM_000092.5(COL4A4):c.115-15T>C
|
|
|
|
NM_000092.5(COL4A4):c.1153G>T (p.Gly385Ter)
|
|
|
|
NM_000092.5(COL4A4):c.1156C>T (p.Pro386Ser)
|
|
|
|
NM_000092.5(COL4A4):c.1158A>G (p.Pro386=)
|
|
|
|
NM_000092.5(COL4A4):c.1159C>T (p.Pro387Ser)
|
rs1351733260
|
|
|
NM_000092.5(COL4A4):c.1161dup (p.Gly388fs)
|
rs1576486164
|
|
|
NM_000092.5(COL4A4):c.1162G>A (p.Gly388Ser)
|
|
|
|
NM_000092.5(COL4A4):c.1163G>T (p.Gly388Val)
|
rs2060341453
|
|
|
NM_000092.5(COL4A4):c.1167C>T (p.Pro389=)
|
|
|
|
NM_000092.5(COL4A4):c.1169del (p.Pro390fs)
|
|
|
|
NM_000092.5(COL4A4):c.1170A>G (p.Pro390=)
|
rs2150739513
|
|
|
NM_000092.5(COL4A4):c.1172del (p.Gly391fs)
|
|
|
|
NM_000092.5(COL4A4):c.1176C>T (p.Leu392=)
|
rs759536932
|
|
|
NM_000092.5(COL4A4):c.1177T>C (p.Leu393=)
|
rs2150739423
|
|
|
NM_000092.5(COL4A4):c.1180G>A (p.Gly394Ser)
|
rs2150739370
|
|
|
NM_000092.5(COL4A4):c.1181G>T (p.Gly394Val)
|
|
|
|
NM_000092.5(COL4A4):c.1182C>A (p.Gly394=)
|
rs2150739342
|
|
|
NM_000092.5(COL4A4):c.1182C>T (p.Gly394=)
|
|
|
|
NM_000092.5(COL4A4):c.1188A>T (p.Pro396=)
|
rs2150739288
|
|
|
NM_000092.5(COL4A4):c.118G>T (p.Gly40Ter)
|
rs2125292585
|
|
|
NM_000092.5(COL4A4):c.1191G>A (p.Gly397=)
|
|
|
|
NM_000092.5(COL4A4):c.1192_1195dup (p.Ala399fs)
|
rs2060340440
|
|
|
NM_000092.5(COL4A4):c.1200dup (p.Ala401fs)
|
rs2150739132
|
|
|
NM_000092.5(COL4A4):c.1204+10C>T
|
|
|
|
NM_000092.5(COL4A4):c.1204+20C>G
|
|
|
|
NM_000092.5(COL4A4):c.1204+5G>A
|
rs748967270
|
|
|
NM_000092.5(COL4A4):c.1204+7A>G
|
rs2060338870
|
|
|
NM_000092.5(COL4A4):c.1204+8T>C
|
rs2150738888
|
|
|
NM_000092.5(COL4A4):c.1204+9G>A
|
rs2060338704
|
|
|
NM_000092.5(COL4A4):c.1205-118G>A
|
rs7561347
|
|
|
NM_000092.5(COL4A4):c.1205-19T>C
|
|
|
|
NM_000092.5(COL4A4):c.1205-20A>G
|
|
|
|
NM_000092.5(COL4A4):c.1205G>A (p.Gly402Asp)
|
|
|
|
NM_000092.5(COL4A4):c.120A>C (p.Gly40=)
|
rs2063106287
|
|
|
NM_000092.5(COL4A4):c.1215A>T (p.Gly405=)
|
|
|
|
NM_000092.5(COL4A4):c.1217C>T (p.Pro406Leu)
|
|
|
|
NM_000092.5(COL4A4):c.1218C>T (p.Pro406=)
|
rs769362865
|
|
|
NM_000092.5(COL4A4):c.1220del (p.Pro407fs)
|
rs1396423880
|
|
|
NM_000092.5(COL4A4):c.1221_1237del (p.Gly408fs)
|
rs1559606445
|
|
|
NM_000092.5(COL4A4):c.1221del (p.Pro409fs)
|
rs1576457876
|
|
|
NM_000092.5(COL4A4):c.1222_1235del (p.Gly408fs)
|
rs2150687684
|
|
|
NM_000092.5(COL4A4):c.1226C>T (p.Pro409Leu)
|
|
|
|
NM_000092.5(COL4A4):c.1228C>G (p.Gln410Glu)
|
|
|
|
NM_000092.5(COL4A4):c.1229A>G (p.Gln410Arg)
|
|
|
|
NM_000092.5(COL4A4):c.1240G>T (p.Gly414Cys)
|
rs373150214
|
|
|
NM_000092.5(COL4A4):c.1241G>A (p.Gly414Asp)
|
rs2150687507
|
|
|
NM_000092.5(COL4A4):c.1242T>G (p.Gly414=)
|
|
|
|
NM_000092.5(COL4A4):c.1243C>A (p.Leu415Ile)
|
|
|
|
NM_000092.5(COL4A4):c.1247del (p.Pro416fs)
|
rs2150687380
|
|
|
NM_000092.5(COL4A4):c.1251G>C (p.Gly417=)
|
rs1318832633
|
|
|
NM_000092.5(COL4A4):c.1268del (p.Gly423fs)
|
|
|
|
NM_000092.5(COL4A4):c.1269T>G (p.Gly423=)
|
|
|
|
NM_000092.5(COL4A4):c.1275T>A (p.Pro425=)
|
rs774374892
|
|
|
NM_000092.5(COL4A4):c.1277G>A (p.Gly426Glu)
|
|
|
|
NM_000092.5(COL4A4):c.1287T>C (p.Asp429=)
|
|
|
|
NM_000092.5(COL4A4):c.1292C>T (p.Ala431Val)
|
|
|
|
NM_000092.5(COL4A4):c.1293_1310del (p.Lys434_Gly439del)
|
rs1362664502
|
|
|
NM_000092.5(COL4A4):c.1304C>A (p.Pro435Gln)
|
|
|
|
NM_000092.5(COL4A4):c.1308G>C (p.Gly436=)
|
|
|
|
NM_000092.5(COL4A4):c.1311G>A (p.Lys437=)
|
rs2150686372
|
|
|
NM_000092.5(COL4A4):c.1317A>T (p.Gly439=)
|
|
|
|
NM_000092.5(COL4A4):c.1320A>G (p.Ser440=)
|
rs2150686233
|
|
|
NM_000092.5(COL4A4):c.1321C>A (p.Pro441Thr)
|
rs2150686207
|
|
|
NM_000092.5(COL4A4):c.1323_1340del (p.Pro444_Leu449del)
|
rs773081522
|
|
|
NM_000092.5(COL4A4):c.1324G>T (p.Gly442Cys)
|
rs2060086619
|
|
|
NM_000092.5(COL4A4):c.1327_1344del (p.Pro444_Leu449del)
|
rs1203564054
|
|
|
NM_000092.5(COL4A4):c.132T>C (p.Ile44=)
|
rs2125292322
|
|
|
NM_000092.5(COL4A4):c.1347G>A (p.Leu449=)
|
rs746533101
|
|
|
NM_000092.5(COL4A4):c.1356C>T (p.Leu452=)
|
rs2150685653
|
|
|
NM_000092.5(COL4A4):c.1361G>C (p.Gly454Ala)
|
rs2150685500
|
|
|
NM_000092.5(COL4A4):c.1365A>G (p.Ser455=)
|
rs200778061
|
|
|
NM_000092.5(COL4A4):c.1366del (p.Ser456fs)
|
|
|
|
NM_000092.5(COL4A4):c.1369+10T>G
|
rs2060083691
|
|
|
NM_000092.5(COL4A4):c.1369+12C>T
|
|
|
|
NM_000092.5(COL4A4):c.1369+12_1369+14del
|
|
|
|
NM_000092.5(COL4A4):c.1369+14T>C
|
|
|
|
NM_000092.5(COL4A4):c.1369+17_1369+20del
|
|
|
|
NM_000092.5(COL4A4):c.1369+1G>A
|
rs1553676230
|
|
|
NM_000092.5(COL4A4):c.1369+20T>A
|
|
|
|
NM_000092.5(COL4A4):c.1369+80T>A
|
rs7587373
|
|
|
NM_000092.5(COL4A4):c.1369+9C>T
|
rs2150685269
|
|
|
NM_000092.5(COL4A4):c.136C>A (p.Pro46Thr)
|
|
|
|
NM_000092.5(COL4A4):c.1370-11C>T
|
|
|
|
NM_000092.5(COL4A4):c.1370-16del
|
|
|
|
NM_000092.5(COL4A4):c.1370-17C>A
|
rs369350196
|
|
|
NM_000092.5(COL4A4):c.1370-2A>C
|
|
|
|
NM_000092.5(COL4A4):c.1370-2A>G
|
rs2059823776
|
|
|
NM_000092.5(COL4A4):c.1370-5G>C
|
rs752509706
|
|
|
NM_000092.5(COL4A4):c.1379G>A (p.Cys460Tyr)
|
rs753659852
|
|
|
NM_000092.5(COL4A4):c.1389G>A (p.Gly463=)
|
|
|
|
NM_000092.5(COL4A4):c.1389del (p.Asn464fs)
|
rs1576428862
|
|
|
NM_000092.5(COL4A4):c.138T>C (p.Pro46=)
|
|
|
|
NM_000092.5(COL4A4):c.139del (p.Cys47fs)
|
|
|
|
NM_000092.5(COL4A4):c.1400del (p.Pro467fs)
|
|
|
|
NM_000092.5(COL4A4):c.1401A>G (p.Pro467=)
|
rs1168152903
|
|
|
NM_000092.5(COL4A4):c.1402C>T (p.Gln468Ter)
|
rs2059821994
|
|
|
NM_000092.5(COL4A4):c.1404A>G (p.Gln468=)
|
rs774673142
|
|
|
NM_000092.5(COL4A4):c.1405G>A (p.Gly469Arg)
|
|
|
|
NM_000092.5(COL4A4):c.1413A>T (p.Lys471Asn)
|
|
|
|
NM_000092.5(COL4A4):c.1423G>T (p.Gly475Cys)
|
rs1371408968
|
|
|
NM_000092.5(COL4A4):c.1424G>T (p.Gly475Val)
|
rs1559594442
|
|
|
NM_000092.5(COL4A4):c.1426C>A (p.Pro476Thr)
|
rs780544830
|
|
|
NM_000092.5(COL4A4):c.142G>C (p.Gly48Arg)
|
|
|
|
NM_000092.5(COL4A4):c.1430del (p.Pro477fs)
|
|
|
|
NM_000092.5(COL4A4):c.1433G>A (p.Gly478Glu)
|
|
|
|
NM_000092.5(COL4A4):c.1440del (p.Gly481fs)
|
rs2150616126
|
|
|
NM_000092.5(COL4A4):c.1443C>A (p.Gly481=)
|
rs1204380807
|
|
|
NM_000092.5(COL4A4):c.1444_1446delinsTC (p.Pro482fs)
|
|
|
|
NM_000092.5(COL4A4):c.1449dup (p.Gly484fs)
|
rs2150615820
|
|
|
NM_000092.5(COL4A4):c.1455A>G (p.Glu485=)
|
rs1576428284
|
|
|
NM_000092.5(COL4A4):c.1459+12C>A
|
|
|
|
NM_000092.5(COL4A4):c.1459+13C>A
|
|
|
|
NM_000092.5(COL4A4):c.1459+16dup
|
rs763434195
|
|
|
NM_000092.5(COL4A4):c.1459+1G>A
|
|
|
|
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.1459+2C>T
|
rs932962404
|
|
|
NM_000092.5(COL4A4):c.1459+5G>A
|
rs2150615599
|
|
|
NM_000092.5(COL4A4):c.1459+9G>A
|
rs1171035119
|
|
|
NM_000092.5(COL4A4):c.1460-12T>A
|
|
|
|
NM_000092.5(COL4A4):c.1460-13A>T
|
|
|
|
NM_000092.5(COL4A4):c.1460-14G>A
|
|
|
|
NM_000092.5(COL4A4):c.1460-17A>T
|
|
|
|
NM_000092.5(COL4A4):c.1460-19C>T
|
|
|
|
NM_000092.5(COL4A4):c.1460-1G>C
|
rs2150597099
|
|
|
NM_000092.5(COL4A4):c.1460-4C>T
|
rs1401402281
|
|
|
NM_000092.5(COL4A4):c.1460-7del
|
|
|
|
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.1476_1477del (p.Ala493fs)
|
rs2150596830
|
|
|
NM_000092.5(COL4A4):c.1477G>T (p.Ala493Ser)
|
|
|
|
NM_000092.5(COL4A4):c.1485G>A (p.Glu495=)
|
rs1158458468
|
|
|
NM_000092.5(COL4A4):c.1487C>T (p.Pro496Leu)
|
rs2150596608
|
|
|
NM_000092.5(COL4A4):c.1491A>G (p.Gly497=)
|
rs2059738609
|
|
|
NM_000092.5(COL4A4):c.1500C>T (p.Gly500=)
|
rs2150596396
|
|
|
NM_000092.5(COL4A4):c.1504C>G (p.Pro502Ala)
|
|
|
|
NM_000092.5(COL4A4):c.1505C>G (p.Pro502Arg)
|
|
|
|
NM_000092.5(COL4A4):c.1508G>T (p.Gly503Val)
|
rs2059737659
|
|
|
NM_000092.5(COL4A4):c.1509C>T (p.Gly503=)
|
rs759563620
|
|
|
NM_000092.5(COL4A4):c.1512T>A (p.Pro504=)
|
|
|
|
NM_000092.5(COL4A4):c.1522C>T (p.Pro508Ser)
|
rs2059736984
|
|
|
NM_000092.5(COL4A4):c.1524T>C (p.Pro508=)
|
|
|
|
NM_000092.5(COL4A4):c.1531C>T (p.Gln511Ter)
|
rs2150595867
|
|
|
NM_000092.5(COL4A4):c.1533G>A (p.Gln511=)
|
|
|
|
NM_000092.5(COL4A4):c.1536G>A (p.Gly512=)
|
rs1384191584
|
|
|
NM_000092.5(COL4A4):c.1536G>C (p.Gly512=)
|
rs1384191584
|
|
|
NM_000092.5(COL4A4):c.1543G>T (p.Gly515Ter)
|
|
|
|
NM_000092.5(COL4A4):c.1544G>T (p.Gly515Val)
|
rs2150595484
|
|
|
NM_000092.5(COL4A4):c.1551G>T (p.Leu517Phe)
|
|
|
|
NM_000092.5(COL4A4):c.1553G>A (p.Gly518Glu)
|
rs564334744
|
|
|
NM_000092.5(COL4A4):c.1554G>A (p.Gly518=)
|
rs1162277153
|
|
|
NM_000092.5(COL4A4):c.1554del (p.Leu519fs)
|
|
|
|
NM_000092.5(COL4A4):c.1555C>G (p.Leu519Val)
|
|
|
|
NM_000092.5(COL4A4):c.1557C>A (p.Leu519=)
|
|
|
|
NM_000092.5(COL4A4):c.1560T>C (p.Pro520=)
|
rs374935235
|
|
|
NM_000092.5(COL4A4):c.1567C>T (p.Leu523Phe)
|
|
|
|
NM_000092.5(COL4A4):c.156C>A (p.Cys52Ter)
|
rs2125291854
|
|
|
NM_000092.5(COL4A4):c.1573A>G (p.Thr525Ala)
|
|
|
|
NM_000092.5(COL4A4):c.1575A>G (p.Thr525=)
|
|
|
|
NM_000092.5(COL4A4):c.1578del (p.Gly527fs)
|
rs2059733367
|
|
|
NM_000092.5(COL4A4):c.1579G>C (p.Gly527Arg)
|
|
|
|
NM_000092.5(COL4A4):c.1580G>A (p.Gly527Asp)
|
rs1358624171
|
|
|
NM_000092.5(COL4A4):c.1580del (p.Gly527fs)
|
rs2059732983
|
|
|
NM_000092.5(COL4A4):c.1584C>T (p.Asp528=)
|
rs1251758935
|
|
|
NM_000092.5(COL4A4):c.158_159del (p.Ser53fs)
|
rs2063103741
|
|
|
NM_000092.5(COL4A4):c.1591C>T (p.Pro531Ser)
|
|
|
|
NM_000092.5(COL4A4):c.1596T>C (p.Pro532=)
|
|
|
|
NM_000092.5(COL4A4):c.1598G>A (p.Gly533Asp)
|
rs1553669704
|
|
|
NM_000092.5(COL4A4):c.1603G>T (p.Glu535Ter)
|
rs1553669674
|
|
|
NM_000092.5(COL4A4):c.1614A>G (p.Pro538=)
|
|
|
|
NM_000092.5(COL4A4):c.1617G>A (p.Gly539=)
|
|
|
|
NM_000092.5(COL4A4):c.161T>G (p.Val54Gly)
|
|
|
|
NM_000092.5(COL4A4):c.1620A>G (p.Leu540=)
|
|
|
|
NM_000092.5(COL4A4):c.1623+14A>G
|
|
|
|
NM_000092.5(COL4A4):c.1623+16C>A
|
|
|
|
NM_000092.5(COL4A4):c.1623+18G>C
|
|
|
|
NM_000092.5(COL4A4):c.1623+19T>G
|
|
|
|
NM_000092.5(COL4A4):c.1623+1G>A
|
rs1559590037
|
|
|
NM_000092.5(COL4A4):c.1623+3G>C
|
|
|
|
NM_000092.5(COL4A4):c.1623+7A>G
|
|
|
|
NM_000092.5(COL4A4):c.1624-18C>G
|
|
|
|
NM_000092.5(COL4A4):c.1624-5C>T
|
rs2150524085
|
|
|
NM_000092.5(COL4A4):c.1624-6A>T
|
rs2150524108
|
|
|
NM_000092.5(COL4A4):c.1624-8del
|
|
|
|
NM_000092.5(COL4A4):c.1624-8dup
|
|
|
|
NM_000092.5(COL4A4):c.1629G>A (p.Lys543=)
|
|
|
|
NM_000092.5(COL4A4):c.1629G>C (p.Lys543Asn)
|
|
|
|
NM_000092.5(COL4A4):c.1634G>T (p.Gly545Val)
|
|
|
|
NM_000092.5(COL4A4):c.1638C>T (p.Ala546=)
|
rs1373604372
|
|
|
NM_000092.5(COL4A4):c.1644A>G (p.Gly548=)
|
|
|
|
NM_000092.5(COL4A4):c.1649_1656del (p.Pro550fs)
|
|
|
|
NM_000092.5(COL4A4):c.1652G>A (p.Gly551Asp)
|
rs2059360185
|
|
|
NM_000092.5(COL4A4):c.1656C>T (p.Asn552=)
|
|
|
|
NM_000092.5(COL4A4):c.165C>A (p.Cys55Ter)
|
rs768245333
|
|
|
NM_000092.5(COL4A4):c.165C>T (p.Cys55=)
|
|
|
|
NM_000092.5(COL4A4):c.1662G>C (p.Gly554=)
|
rs1399050739
|
|
|
NM_000092.5(COL4A4):c.1666A>G (p.Lys556Glu)
|
|
|
|
NM_000092.5(COL4A4):c.1685C>A (p.Ser562Ter)
|
rs2059358378
|
|
|
NM_000092.5(COL4A4):c.1690G>A (p.Val564Ile)
|
|
|
|
NM_000092.5(COL4A4):c.1696+1G>A
|
rs954701825
|
|
|
NM_000092.5(COL4A4):c.1696+1G>T
|
rs954701825
|
|
|
NM_000092.5(COL4A4):c.1696+1del
|
rs2150523233
|
|
|
NM_000092.5(COL4A4):c.1696+9A>C
|
rs1256605065
|
|
|
NM_000092.5(COL4A4):c.1697-10C>A
|
rs2150506701
|
|
|
NM_000092.5(COL4A4):c.1697-10C>G
|
rs2150506701
|
|
|
NM_000092.5(COL4A4):c.1697-11T>C
|
|
|
|
NM_000092.5(COL4A4):c.1697-13C>T
|
|
|
|
NM_000092.5(COL4A4):c.1697-14A>G
|
|
|
|
NM_000092.5(COL4A4):c.1697-1G>A
|
rs1559569975
|
|
|
NM_000092.5(COL4A4):c.1697-1G>C
|
rs1559569975
|
|
|
NM_000092.5(COL4A4):c.1697-6T>C
|
|
|
|
NM_000092.5(COL4A4):c.1697-8_1697-7del
|
|
|
|
NM_000092.5(COL4A4):c.169T>C (p.Cys57Arg)
|
|
|
|
NM_000092.5(COL4A4):c.16A>G (p.Ile6Val)
|
|
|
|
NM_000092.5(COL4A4):c.1700A>G (p.His567Arg)
|
rs2150506568
|
|
|
NM_000092.5(COL4A4):c.1706del (p.Gly569fs)
|
|
|
|
NM_000092.5(COL4A4):c.1715G>C (p.Gly572Ala)
|
rs1446915781
|
|
|
NM_000092.5(COL4A4):c.1715del (p.Gly572fs)
|
rs2059270223
|
|
|
NM_000092.5(COL4A4):c.1716del (p.Pro573fs)
|
|
|
|
NM_000092.5(COL4A4):c.1718C>T (p.Pro573Leu)
|
|
|
|
NM_000092.5(COL4A4):c.1719T>C (p.Pro573=)
|
rs533957132
|
|
|
NM_000092.5(COL4A4):c.171T>A (p.Cys57Ter)
|
|
|
|
NM_000092.5(COL4A4):c.1728C>T (p.Pro576=)
|
rs2150506213
|
|
|
NM_000092.5(COL4A4):c.1730dup (p.Gly578fs)
|
|
|
|
NM_000092.5(COL4A4):c.1733G>T (p.Gly578Val)
|
|
|
|
NM_000092.5(COL4A4):c.1738C>T (p.Pro580Ser)
|
|
|
|
NM_000092.5(COL4A4):c.1748del (p.Pro583fs)
|
|
|
|
NM_000092.5(COL4A4):c.1749A>G (p.Pro583=)
|
|
|
|
NM_000092.5(COL4A4):c.1750G>A (p.Gly584Arg)
|
|
|
|
NM_000092.5(COL4A4):c.1751G>A (p.Gly584Glu)
|
rs2150506036
|
|
|
NM_000092.5(COL4A4):c.1756C>A (p.His586Asn)
|
|
|
|
NM_000092.5(COL4A4):c.1757A>G (p.His586Arg)
|
|
|
|
NM_000092.5(COL4A4):c.1761T>C (p.Gly587=)
|
|
|
|
NM_000092.5(COL4A4):c.1762C>T (p.Arg588Trp)
|
|
|
|
NM_000092.5(COL4A4):c.1763G>A (p.Arg588Gln)
|
|
|
|
NM_000092.5(COL4A4):c.1764G>A (p.Arg588=)
|
|
|
|
NM_000092.5(COL4A4):c.1767T>A (p.Asp589Glu)
|
rs886055727
|
|
|
NM_000092.5(COL4A4):c.1768G>T (p.Gly590Ter)
|
rs2150505661
|
|
|
NM_000092.5(COL4A4):c.1772A>C (p.His591Pro)
|
|
|
|
NM_000092.5(COL4A4):c.1774G>C (p.Ala592Pro)
|
|
|
|
NM_000092.5(COL4A4):c.1778G>A (p.Gly593Glu)
|
|
|
|
NM_000092.5(COL4A4):c.1785A>G (p.Lys595=)
|
|
|
|
NM_000092.5(COL4A4):c.1785dup (p.Gly596fs)
|
rs2150505385
|
|
|
NM_000092.5(COL4A4):c.1788G>C (p.Gly596=)
|
rs377108110
|
|
|
NM_000092.5(COL4A4):c.1791T>C (p.Asp597=)
|
rs2150505253
|
|
|
NM_000092.5(COL4A4):c.1792C>T (p.Pro598Ser)
|
rs1411689737
|
|
|
NM_000092.5(COL4A4):c.1794A>G (p.Pro598=)
|
|
|
|
NM_000092.5(COL4A4):c.1800T>G (p.Pro600=)
|
rs2150505064
|
|
|
NM_000092.5(COL4A4):c.1804-11A>T
|
|
|
|
NM_000092.5(COL4A4):c.1804-13A>G
|
|
|
|
NM_000092.5(COL4A4):c.1804-182AT[7]
|
rs202009202
|
|
|
NM_000092.5(COL4A4):c.1804-2del
|
|
|
|
NM_000092.5(COL4A4):c.1804-4C>A
|
rs1464857860
|
|
|
NM_000092.5(COL4A4):c.1804-4C>T
|
rs1464857860
|
|
|
NM_000092.5(COL4A4):c.1804-5C>G
|
|
|
|
NM_000092.5(COL4A4):c.1804-7T>G
|
rs2150477819
|
|
|
NM_000092.5(COL4A4):c.1805G>A (p.Gly602Glu)
|
|
|
|
NM_000092.5(COL4A4):c.1807_1816del (p.Asp603fs)
|
rs2150477599
|
|
|
NM_000092.5(COL4A4):c.1809_1813del (p.Asp603fs)
|
|
|
|
NM_000092.5(COL4A4):c.1811A>G (p.His604Arg)
|
|
|
|
NM_000092.5(COL4A4):c.1821G>C (p.Ala607=)
|
rs114684841
|
|
|
NM_000092.5(COL4A4):c.1824C>T (p.Thr608=)
|
rs777982441
|
|
|
NM_000092.5(COL4A4):c.1825C>G (p.Pro609Ala)
|
rs1263397268
|
|
|
NM_000092.5(COL4A4):c.1827A>G (p.Pro609=)
|
rs2059127590
|
|
|
NM_000092.5(COL4A4):c.1828G>A (p.Gly610Ser)
|
rs1559563525
|
|
|
NM_000092.5(COL4A4):c.1829G>A (p.Gly610Asp)
|
rs2150477193
|
|
|
NM_000092.5(COL4A4):c.182dup (p.Ser63fs)
|
|
|
|
NM_000092.5(COL4A4):c.1830T>C (p.Gly610=)
|
rs2150477164
|
|
|
NM_000092.5(COL4A4):c.1831G>A (p.Gly611Ser)
|
rs758860164
|
|
|
NM_000092.5(COL4A4):c.1833T>A (p.Gly611=)
|
|
|
|
NM_000092.5(COL4A4):c.1839A>G (p.Gly613=)
|
|
|
|
NM_000092.5(COL4A4):c.1839A>T (p.Gly613=)
|
|
|
|
NM_000092.5(COL4A4):c.1846G>C (p.Gly616Arg)
|
|
|
|
NM_000092.5(COL4A4):c.1848del (p.Pro617fs)
|
rs2150476941
|
|
|
NM_000092.5(COL4A4):c.1850dup (p.Leu618fs)
|
|
|
|
NM_000092.5(COL4A4):c.1852C>T (p.Leu618=)
|
rs755071737
|
|
|
NM_000092.5(COL4A4):c.1855G>A (p.Gly619Ser)
|
rs2150476860
|
|
|
NM_000092.5(COL4A4):c.1856_1857insT (p.Gly622fs)
|
|
|
|
NM_000092.5(COL4A4):c.1857C>A (p.Gly619=)
|
rs766619245
|
|
|
NM_000092.5(COL4A4):c.1857C>G (p.Gly619=)
|
rs766619245
|
|
|
NM_000092.5(COL4A4):c.1857C>T (p.Gly619=)
|
rs766619245
|
|
|
NM_000092.5(COL4A4):c.185_186dup (p.Ser63fs)
|
rs2125291573
|
|
|
NM_000092.5(COL4A4):c.1862del (p.Pro621fs)
|
rs2150476732
|
|
|
NM_000092.5(COL4A4):c.1865G>A (p.Gly622Asp)
|
|
|
|
NM_000092.5(COL4A4):c.1865dup (p.Lys623fs)
|
|
|
|
NM_000092.5(COL4A4):c.186G>C (p.Gly62=)
|
|
|
|
NM_000092.5(COL4A4):c.186dup (p.Ser63fs)
|
|
|
|
NM_000092.5(COL4A4):c.1871C>T (p.Ala624Val)
|
rs2150476651
|
|
|
NM_000092.5(COL4A4):c.1877C>T (p.Pro626Leu)
|
rs1468423581
|
|
|
NM_000092.5(COL4A4):c.1881G>C (p.Val627=)
|
rs1358710021
|
|
|
NM_000092.5(COL4A4):c.1884G>T (p.Gly628=)
|
rs761646265
|
|
|
NM_000092.5(COL4A4):c.1887C>G (p.Pro629=)
|
|
|
|
NM_000092.5(COL4A4):c.1889del (p.Pro630fs)
|
rs757688183
|
|
|
NM_000092.5(COL4A4):c.1891G>T (p.Gly631Ter)
|
|
|
|
NM_000092.5(COL4A4):c.1905T>C (p.Pro635=)
|
|
|
|
NM_000092.5(COL4A4):c.1907G>A (p.Gly636Asp)
|
rs1559563141
|
|
|
NM_000092.5(COL4A4):c.1909C>T (p.Pro637Ser)
|
|
|
|
NM_000092.5(COL4A4):c.1911A>C (p.Pro637=)
|
rs769466087
|
|
|
NM_000092.5(COL4A4):c.1914A>G (p.Pro638=)
|
rs759226801
|
|
|
NM_000092.5(COL4A4):c.192+10G>A
|
rs2125291249
|
|
|
NM_000092.5(COL4A4):c.192+15G>A
|
|
|
|
NM_000092.5(COL4A4):c.192+15G>T
|
|
|
|
NM_000092.5(COL4A4):c.192+18C>T
|
|
|
|
NM_000092.5(COL4A4):c.192+1G>A
|
|
|
|
NM_000092.5(COL4A4):c.192+1G>T
|
rs2125291407
|
|
|
NM_000092.5(COL4A4):c.192+1_192+2delinsTGATGTA
|
rs1576812577
|
|
|
NM_000092.5(COL4A4):c.192+3A>G
|
|
|
|
NM_000092.5(COL4A4):c.192+5G>A
|
|
|
|
NM_000092.5(COL4A4):c.192+7G>A
|
|
|
|
NM_000092.5(COL4A4):c.192+9T>A
|
rs951832555
|
|
|
NM_000092.5(COL4A4):c.192+9T>C
|
rs951832555
|
|
|
NM_000092.5(COL4A4):c.1920G>A (p.Glu640=)
|
rs772923694
|
|
|
NM_000092.5(COL4A4):c.1922G>A (p.Arg641Gln)
|
|
|
|
NM_000092.5(COL4A4):c.193-11T>G
|
|
|
|
NM_000092.5(COL4A4):c.193-15A>T
|
|
|
|
NM_000092.5(COL4A4):c.193-2A>C
|
rs2125038490
|
|
|
NM_000092.5(COL4A4):c.193-5C>A
|
|
|
|
NM_000092.5(COL4A4):c.193-9C>T
|
rs190570269
|
|
|
NM_000092.5(COL4A4):c.1932A>G (p.Pro644=)
|
|
|
|
NM_000092.5(COL4A4):c.1935_1952del (p.Pro647_Val652del)
|
rs1553658892
|
|
|
NM_000092.5(COL4A4):c.1944C>A (p.Gly648=)
|
rs1320934340
|
|
|
NM_000092.5(COL4A4):c.1952G>A (p.Gly651Asp)
|
rs2059121113
|
|
|
NM_000092.5(COL4A4):c.1952G>T (p.Gly651Val)
|
rs2059121113
|
|
|
NM_000092.5(COL4A4):c.1953T>C (p.Gly651=)
|
|
|
|
NM_000092.5(COL4A4):c.1956G>A (p.Val652=)
|
rs2150475372
|
|
|
NM_000092.5(COL4A4):c.1959G>A (p.Arg653=)
|
|
|
|
NM_000092.5(COL4A4):c.1962C>A (p.Gly654=)
|
rs376448360
|
|
|
NM_000092.5(COL4A4):c.1966del (p.Asp656fs)
|
rs2150475193
|
|
|
NM_000092.5(COL4A4):c.1967A>G (p.Asp656Gly)
|
rs1387537859
|
|
|
NM_000092.5(COL4A4):c.1968T>C (p.Asp656=)
|
rs1559562624
|
|
|
NM_000092.5(COL4A4):c.196C>T (p.Pro66Ser)
|
|
|
|
NM_000092.5(COL4A4):c.1970G>A (p.Gly657Asp)
|
rs755233004
|
|
|
NM_000092.5(COL4A4):c.1973T>A (p.Leu658Ter)
|
rs2059119564
|
|
|
NM_000092.5(COL4A4):c.1986A>T (p.Lys662Asn)
|
|
|
|
NM_000092.5(COL4A4):c.1987+13A>C
|
|
|
|
NM_000092.5(COL4A4):c.1987+13_1987+15del
|
|
|
|
NM_000092.5(COL4A4):c.1987+15A>T
|
|
|
|
NM_000092.5(COL4A4):c.1987+15dup
|
rs754189803
|
|
|
NM_000092.5(COL4A4):c.1987+17T>A
|
|
|
|
NM_000092.5(COL4A4):c.1987+184dup
|
rs768453060
|
|
|
NM_000092.5(COL4A4):c.1987+18T>G
|
rs2150474510
|
|
|
NM_000092.5(COL4A4):c.1987+19T>G
|
|
|
|
NM_000092.5(COL4A4):c.1987+1G>A
|
rs2150474860
|
|
|
NM_000092.5(COL4A4):c.1987+20A>G
|
|
|
|
NM_000092.5(COL4A4):c.1987+213TTCTTT[2]
|
rs139922960
|
|
|
NM_000092.5(COL4A4):c.1987+4A>G
|
rs1559562567
|
|
|
NM_000092.5(COL4A4):c.1987+9A>T
|
rs756222520
|
|
|
NM_000092.5(COL4A4):c.1988-13T>C
|
|
|
|
NM_000092.5(COL4A4):c.1988-13_1988-9del
|
rs1977413136
|
|
|
NM_000092.5(COL4A4):c.1988-20C>T
|
|
|
|
NM_000092.5(COL4A4):c.1988-222G>A
|
rs3765192
|
|
|
NM_000092.5(COL4A4):c.1988-2A>T
|
rs1576238292
|
|
|
NM_000092.5(COL4A4):c.1988-4G>A
|
rs758331938
|
|
|
NM_000092.5(COL4A4):c.1988-7A>C
|
rs781167410
|
|
|
NM_000092.5(COL4A4):c.1988-8_1988-7del
|
rs2150313015
|
|
|
NM_000092.5(COL4A4):c.1996A>G (p.Ile666Val)
|
|
|
|
NM_000092.5(COL4A4):c.2001T>C (p.Ser667=)
|
|
|
|
NM_000092.5(COL4A4):c.2014T>C (p.Tyr672His)
|
rs2150312695
|
|
|
NM_000092.5(COL4A4):c.201A>C (p.Pro67=)
|
|
|
|
NM_000092.5(COL4A4):c.201A>G (p.Pro67=)
|
rs2125038172
|
|
|
NM_000092.5(COL4A4):c.2022G>A (p.Gly674=)
|
|
|
|
NM_000092.5(COL4A4):c.2023A>G (p.Arg675Gly)
|
|
|
|
NM_000092.5(COL4A4):c.2023A>T (p.Arg675Trp)
|
rs1018765959
|
|
|
NM_000092.5(COL4A4):c.2027A>G (p.His676Arg)
|
|
|
|
NM_000092.5(COL4A4):c.2029G>A (p.Gly677Ser)
|
rs1977400475
|
|
|
NM_000092.5(COL4A4):c.2039G>A (p.Gly680Asp)
|
rs1553646081
|
|
|
NM_000092.5(COL4A4):c.204_212del (p.67PGP[1])
|
rs764884579
|
|
|
NM_000092.5(COL4A4):c.2056+12G>T
|
|
|
|
NM_000092.5(COL4A4):c.2056+16A>G
|
|
|
|
NM_000092.5(COL4A4):c.2056+17G>T
|
|
|
|
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.2056+7T>C
|
rs2150312197
|
|
|
NM_000092.5(COL4A4):c.2057-12A>G
|
|
|
|
NM_000092.5(COL4A4):c.2057-1G>A
|
rs2150288556
|
|
|
NM_000092.5(COL4A4):c.2057-8T>A
|
rs2150288621
|
|
|
NM_000092.5(COL4A4):c.2057G>A (p.Gly686Asp)
|
rs1156323870
|
|
|
NM_000092.5(COL4A4):c.2058T>A (p.Gly686=)
|
|
|
|
NM_000092.5(COL4A4):c.2060C>T (p.Pro687Leu)
|
|
|
|
NM_000092.5(COL4A4):c.2061G>C (p.Pro687=)
|
rs558925851
|
|
|
NM_000092.5(COL4A4):c.2082A>G (p.Gln694=)
|
rs2150288135
|
|
|
NM_000092.5(COL4A4):c.2084G>A (p.Gly695Asp)
|
rs1553644402
|
|
|
NM_000092.5(COL4A4):c.2085T>G (p.Gly695=)
|
|
|
|
NM_000092.5(COL4A4):c.2106A>G (p.Ser702=)
|
rs2150287890
|
|
|
NM_000092.5(COL4A4):c.210A>G (p.Pro70=)
|
|
|
|
NM_000092.5(COL4A4):c.2110G>A (p.Gly704Arg)
|
rs1379525680
|
|
|
NM_000092.5(COL4A4):c.2115T>A (p.His705Gln)
|
|
|
|
NM_000092.5(COL4A4):c.2122A>C (p.Arg708=)
|
rs765570194
|
|
|
NM_000092.5(COL4A4):c.2124A>T (p.Arg708Ser)
|
rs2150287552
|
|
|
NM_000092.5(COL4A4):c.2131A>G (p.Thr711Ala)
|
|
|
|
NM_000092.5(COL4A4):c.2133A>C (p.Thr711=)
|
|
|
|
NM_000092.5(COL4A4):c.2133A>G (p.Thr711=)
|
|
|
|
NM_000092.5(COL4A4):c.2135C>T (p.Pro712Leu)
|
|
|
|
NM_000092.5(COL4A4):c.2137G>T (p.Gly713Ter)
|
rs1976602205
|
|
|
NM_000092.5(COL4A4):c.2138_2143dup (p.Gly713_Thr714dup)
|
rs777985749
|
|
|
NM_000092.5(COL4A4):c.213G>T (p.Gly71=)
|
|
|
|
NM_000092.5(COL4A4):c.2151A>C (p.Ile717=)
|
rs2150287283
|
|
|
NM_000092.5(COL4A4):c.2152_2154dup (p.Pro718dup)
|
rs1553644306
|
|
|
NM_000092.5(COL4A4):c.2154A>G (p.Pro718=)
|
rs2150287159
|
|
|
NM_000092.5(COL4A4):c.2155G>C (p.Gly719Arg)
|
|
|
|
NM_000092.5(COL4A4):c.2157T>C (p.Gly719=)
|
|
|
|
NM_000092.5(COL4A4):c.2159C>T (p.Pro720Leu)
|
rs749186337
|
|
|
NM_000092.5(COL4A4):c.2160_2163dup (p.Gly722fs)
|
rs1976595425
|
|
|
NM_000092.5(COL4A4):c.2164+10G>T
|
rs1292457932
|
|
|
NM_000092.5(COL4A4):c.2164+11_2164+12insTGTTTTT
|
|
|
|
NM_000092.5(COL4A4):c.2164+12T>G
|
|
|
|
NM_000092.5(COL4A4):c.2164+13_2164+14insTTTGT
|
|
|
|
NM_000092.5(COL4A4):c.2164+15_2164+16insTTTG
|
|
|
|
NM_000092.5(COL4A4):c.2164+15_2164+16insTTTTG
|
rs775187787
|
|
|
NM_000092.5(COL4A4):c.2164+16_2164+17insTTTG
|
|
|
|
NM_000092.5(COL4A4):c.2164+16_2164+17insTTTTG
|
rs1976575882
|
|
|
NM_000092.5(COL4A4):c.2164+16_2164+17insTTTTTG
|
|
|
|
NM_000092.5(COL4A4):c.2164+17T>G
|
|
|
|
NM_000092.5(COL4A4):c.2164+17_2164+18insTTTTG
|
|
|
|
NM_000092.5(COL4A4):c.2164+18T>G
|
|
|
|
NM_000092.5(COL4A4):c.2164+19T>G
|
|
|
|
NM_000092.5(COL4A4):c.2164+19_2164+20insTTTTG
|
rs749658792
|
|
|
NM_000092.5(COL4A4):c.2164+19_2164+20insTTTTTG
|
|
|
|
NM_000092.5(COL4A4):c.2164+19_2164+20insTTTTTTTTG
|
|
|
|
NM_000092.5(COL4A4):c.2164+20T>G
|
|
|
|
NM_000092.5(COL4A4):c.2164+2T>G
|
rs1976595133
|
|
|
NM_000092.5(COL4A4):c.2164+7G>T
|
|
|
|
NM_000092.5(COL4A4):c.2164+8A>T
|
rs745682054
|
|
|
NM_000092.5(COL4A4):c.2164+9G>A
|
rs1467377093
|
|
|
NM_000092.5(COL4A4):c.2165-12G>A
|
|
|
|
NM_000092.5(COL4A4):c.2165-12G>T
|
|
|
|
NM_000092.5(COL4A4):c.2165-12_2165-11dup
|
|
|
|
NM_000092.5(COL4A4):c.2165-12del
|
|
|
|
NM_000092.5(COL4A4):c.2165-13T>C
|
|
|
|
NM_000092.5(COL4A4):c.2165-13del
|
rs140965334
|
|
|
NM_000092.5(COL4A4):c.2165-13dup
|
|
|
|
NM_000092.5(COL4A4):c.2165-14T>C
|
|
|
|
NM_000092.5(COL4A4):c.2165-14_2165-13dup
|
|
|
|
NM_000092.5(COL4A4):c.2165-15T>C
|
|
|
|
NM_000092.5(COL4A4):c.2165-15_2165-14insG
|
|
|
|
NM_000092.5(COL4A4):c.2165-20T>C
|
|
|
|
NM_000092.5(COL4A4):c.2165-26dup
|
rs200590191
|
|
|
NM_000092.5(COL4A4):c.2165-4A>G
|
rs776551903
|
|
|
NM_000092.5(COL4A4):c.2165-9_2165-7del
|
rs755921867
|
|
|
NM_000092.5(COL4A4):c.2168_2169dup (p.Arg724fs)
|
rs2150277252
|
|
|
NM_000092.5(COL4A4):c.2171del (p.Arg724fs)
|
rs1576207007
|
|
|
NM_000092.5(COL4A4):c.2174G>A (p.Gly725Asp)
|
rs2150277040
|
|
|
NM_000092.5(COL4A4):c.2175T>C (p.Gly725=)
|
rs1218628637
|
|
|
NM_000092.5(COL4A4):c.2184A>G (p.Gly728=)
|
rs2150276802
|
|
|
NM_000092.5(COL4A4):c.2189C>T (p.Pro730Leu)
|
|
|
|
NM_000092.5(COL4A4):c.2190G>A (p.Pro730=)
|
rs998610773
|
|
|
NM_000092.5(COL4A4):c.2190G>C (p.Pro730=)
|
|
|
|
NM_000092.5(COL4A4):c.2191G>C (p.Gly731Arg)
|
|
|
|
NM_000092.5(COL4A4):c.2192G>A (p.Gly731Asp)
|
|
|
|
NM_000092.5(COL4A4):c.2192G>T (p.Gly731Val)
|
rs1976367934
|
|
|
NM_000092.5(COL4A4):c.2195T>A (p.Phe732Tyr)
|
|
|
|
NM_000092.5(COL4A4):c.2196del (p.Phe732fs)
|
rs2150276476
|
|
|
NM_000092.5(COL4A4):c.2197G>T (p.Gly733Ter)
|
|
|
|
NM_000092.5(COL4A4):c.21A>G (p.Val7=)
|
rs1237396954
|
|
|
NM_000092.5(COL4A4):c.2207del (p.Lys736fs)
|
|
|
|
NM_000092.5(COL4A4):c.2208G>C (p.Lys736Asn)
|
rs1976364730
|
|
|
NM_000092.5(COL4A4):c.2211G>T (p.Gly737=)
|
rs1329616730
|
|
|
NM_000092.5(COL4A4):c.2211delinsTGCTAATTC (p.Ser738fs)
|
|
|
|
NM_000092.5(COL4A4):c.2214C>A (p.Ser738=)
|
rs766664698
|
|
|
NM_000092.5(COL4A4):c.2215_2236del (p.Ser739fs)
|
rs2150275655
|
|
|
NM_000092.5(COL4A4):c.2218C>T (p.Pro740Ser)
|
|
|
|
NM_000092.5(COL4A4):c.2219_2220del (p.Pro740fs)
|
rs2150276003
|
|
|
NM_000092.5(COL4A4):c.2219dup (p.Val741fs)
|
rs141127013
|
|
|
NM_000092.5(COL4A4):c.2224G>A (p.Gly742Arg)
|
|
|
|
NM_000092.5(COL4A4):c.2226G>A (p.Gly742=)
|
|
|
|
NM_000092.5(COL4A4):c.2229C>A (p.Pro743=)
|
|
|
|
NM_000092.5(COL4A4):c.2229C>T (p.Pro743=)
|
|
|
|
NM_000092.5(COL4A4):c.2232A>G (p.Pro744=)
|
|
|
|
NM_000092.5(COL4A4):c.2232dup (p.Gly745fs)
|
rs1976356392
|
|
|
NM_000092.5(COL4A4):c.2241C>G (p.Pro747=)
|
|
|
|
NM_000092.5(COL4A4):c.2241del (p.Gly748fs)
|
|
|
|
NM_000092.5(COL4A4):c.2246C>T (p.Ser749Leu)
|
|
|
|
NM_000092.5(COL4A4):c.2250A>G (p.Pro750=)
|
rs2150275421
|
|
|
NM_000092.5(COL4A4):c.2251G>T (p.Gly751Ter)
|
rs2150275391
|
|
|
NM_000092.5(COL4A4):c.226A>G (p.Ile76Val)
|
|
|
|
NM_000092.5(COL4A4):c.2270G>A (p.Gly757Glu)
|
|
|
|
NM_000092.5(COL4A4):c.2277G>A (p.Pro759=)
|
rs376082013
|
|
|
NM_000092.5(COL4A4):c.2277G>T (p.Pro759=)
|
rs376082013
|
|
|
NM_000092.5(COL4A4):c.2279dup (p.Asp761fs)
|
rs1553643669
|
|
|
NM_000092.5(COL4A4):c.227_231del (p.Ile76fs)
|
rs2061758031
|
|
|
NM_000092.5(COL4A4):c.2280A>C (p.Gly760=)
|
rs2150275012
|
|
|
NM_000092.5(COL4A4):c.2283C>T (p.Asp761=)
|
rs2150274944
|
|
|
NM_000092.5(COL4A4):c.2285C>T (p.Pro762Leu)
|
|
|
|
NM_000092.5(COL4A4):c.2289A>G (p.Ala763=)
|
rs2150274879
|
|
|
NM_000092.5(COL4A4):c.228T>C (p.Ile76=)
|
|
|
|
NM_000092.5(COL4A4):c.2297_2298del (p.His766fs)
|
|
|
|
NM_000092.5(COL4A4):c.2303G>T (p.Gly768Val)
|
|
|
|
NM_000092.5(COL4A4):c.2304A>T (p.Gly768=)
|
|
|
|
NM_000092.5(COL4A4):c.2307C>A (p.Pro769=)
|
rs748339903
|
|
|
NM_000092.5(COL4A4):c.2307C>G (p.Pro769=)
|
rs748339903
|
|
|
NM_000092.5(COL4A4):c.2307C>T (p.Pro769=)
|
rs748339903
|
|
|
NM_000092.5(COL4A4):c.2309C>T (p.Pro770Leu)
|
|
|
|
NM_000092.5(COL4A4):c.230G>C (p.Gly77Ala)
|
rs112204566
|
|
|
NM_000092.5(COL4A4):c.2310G>A (p.Pro770=)
|
|
|
|
NM_000092.5(COL4A4):c.2312del (p.Gly771fs)
|
|
|
|
NM_000092.5(COL4A4):c.2312dup (p.Arg773fs)
|
rs1976337637
|
|
|
NM_000092.5(COL4A4):c.2319G>A (p.Arg773=)
|
rs200920187
|
|
|
NM_000092.5(COL4A4):c.2320G>A (p.Gly774Ser)
|
|
|
|
NM_000092.5(COL4A4):c.2322T>C (p.Gly774=)
|
|
|
|
NM_000092.5(COL4A4):c.232C>T (p.Pro78Ser)
|
rs762682812
|
|
|
NM_000092.5(COL4A4):c.2335C>G (p.Pro779Ala)
|
rs886055725
|
|
|
NM_000092.5(COL4A4):c.2335C>T (p.Pro779Ser)
|
|
|
|
NM_000092.5(COL4A4):c.2340G>A (p.Gly780=)
|
|
|
|
NM_000092.5(COL4A4):c.2346del (p.Gly783fs)
|
|
|
|
NM_000092.5(COL4A4):c.2349A>T (p.Gly783=)
|
rs2150273708
|
|
|
NM_000092.5(COL4A4):c.234C>T (p.Pro78=)
|
rs2125037498
|
|
|
NM_000092.5(COL4A4):c.2353A>C (p.Arg785=)
|
|
|
|
NM_000092.5(COL4A4):c.2361T>C (p.Asp787=)
|
|
|
|
NM_000092.5(COL4A4):c.2367A>G (p.Gly789=)
|
rs56247709
|
|
|
NM_000092.5(COL4A4):c.2367A>T (p.Gly789=)
|
rs56247709
|
|
|
NM_000092.5(COL4A4):c.236_252del (p.Leu79fs)
|
|
|
|
NM_000092.5(COL4A4):c.2374G>A (p.Gly792Arg)
|
rs768003309
|
|
|
NM_000092.5(COL4A4):c.2376G>A (p.Gly792=)
|
rs2150273199
|
|
|
NM_000092.5(COL4A4):c.2377G>A (p.Ala793Thr)
|
|
|
|
NM_000092.5(COL4A4):c.2377del (p.Ala793fs)
|
rs1976320157
|
|
|
NM_000092.5(COL4A4):c.2383+15C>G
|
|
|
|
NM_000092.5(COL4A4):c.2383+17G>A
|
|
|
|
NM_000092.5(COL4A4):c.2383+18T>C
|
|
|
|
NM_000092.5(COL4A4):c.2383+1G>A
|
|
|
|
NM_000092.5(COL4A4):c.2383+1G>T
|
|
|
|
NM_000092.5(COL4A4):c.2383+20del
|
|
|
|
NM_000092.5(COL4A4):c.2383+2_2383+5dup
|
rs1553643488
|
|
|
NM_000092.5(COL4A4):c.2383+9G>A
|
rs746435134
|
|
|
NM_000092.5(COL4A4):c.2383G>A (p.Gly795Arg)
|
rs779584531
|
|
|
NM_000092.5(COL4A4):c.2383G>C (p.Gly795Arg)
|
|
|
|
NM_000092.5(COL4A4):c.2384-10A>G
|
|
|
|
NM_000092.5(COL4A4):c.2384-12G>T
|
|
|
|
NM_000092.5(COL4A4):c.2384-14T>C
|
|
|
|
NM_000092.5(COL4A4):c.2384-18T>C
|
|
|
|
NM_000092.5(COL4A4):c.2384-6T>C
|
rs2150251834
|
|
|
NM_000092.5(COL4A4):c.2384-88_2384-87del
|
rs61412063
|
|
|
NM_000092.5(COL4A4):c.2390C>G (p.Ala797Gly)
|
|
|
|
NM_000092.5(COL4A4):c.2400T>G (p.Pro800=)
|
rs1294981972
|
|
|
NM_000092.5(COL4A4):c.2402G>A (p.Gly801Glu)
|
|
|
|
NM_000092.5(COL4A4):c.2402G>T (p.Gly801Val)
|
rs200814061
|
|
|
NM_000092.5(COL4A4):c.2409A>G (p.Leu803=)
|
|
|
|
NM_000092.5(COL4A4):c.2410G>A (p.Gly804Ser)
|
|
|
|
NM_000092.5(COL4A4):c.2420del (p.Gly807fs)
|
rs786205640
|
|
|
NM_000092.5(COL4A4):c.2428G>A (p.Gly810Ser)
|
rs1975763905
|
|
|
NM_000092.5(COL4A4):c.2432G>C (p.Arg811Thr)
|
|
|
|
NM_000092.5(COL4A4):c.2435_2436del (p.Glu812fs)
|
rs1448532668
|
|
|
NM_000092.5(COL4A4):c.2438G>A (p.Gly813Glu)
|
rs2150251009
|
|
|
NM_000092.5(COL4A4):c.243C>T (p.Ala81=)
|
|
|
|
NM_000092.5(COL4A4):c.2446_2453dup (p.Val820fs)
|
rs2150250774
|
|
|
NM_000092.5(COL4A4):c.2454A>G (p.Pro818=)
|
|
|
|
NM_000092.5(COL4A4):c.2456G>T (p.Gly819Val)
|
rs1576189036
|
|
|
NM_000092.5(COL4A4):c.2459T>A (p.Val820Asp)
|
|
|
|
NM_000092.5(COL4A4):c.2463A>G (p.Pro821=)
|
|
|
|
NM_000092.5(COL4A4):c.246A>G (p.Pro82=)
|
rs2125037107
|
|
|
NM_000092.5(COL4A4):c.2472T>C (p.Pro824=)
|
|
|
|
NM_000092.5(COL4A4):c.2474G>A (p.Gly825Asp)
|
|
|
|
NM_000092.5(COL4A4):c.2475C>A (p.Gly825=)
|
|
|
|
NM_000092.5(COL4A4):c.2475C>T (p.Gly825=)
|
rs1456612456
|
|
|
NM_000092.5(COL4A4):c.2479T>C (p.Ser827Pro)
|
|
|
|
NM_000092.5(COL4A4):c.2488del (p.Arg830fs)
|
|
|
|
NM_000092.5(COL4A4):c.248G>A (p.Gly83Glu)
|
rs1559677316
|
|
|
NM_000092.5(COL4A4):c.2496T>C (p.Ala832=)
|
rs2150250276
|
|
|
NM_000092.5(COL4A4):c.2508A>C (p.Pro836=)
|
rs1975731142
|
|
|
NM_000092.5(COL4A4):c.2520A>T (p.Gly840=)
|
rs1045526240
|
|
|
NM_000092.5(COL4A4):c.2528G>A (p.Gly843Glu)
|
rs1559515185
|
|
|
NM_000092.5(COL4A4):c.2529G>A (p.Gly843=)
|
rs886038229
|
|
|
NM_000092.5(COL4A4):c.2529G>T (p.Gly843=)
|
rs886038229
|
|
|
NM_000092.5(COL4A4):c.2531_2537del (p.Tyr844fs)
|
rs2150249648
|
|
|
NM_000092.5(COL4A4):c.2532T>A (p.Tyr844Ter)
|
|
|
|
NM_000092.5(COL4A4):c.2533C>T (p.Pro845Ser)
|
|
|
|
NM_000092.5(COL4A4):c.2545+18T>C
|
|
|
|
NM_000092.5(COL4A4):c.2545+1G>A
|
|
|
|
NM_000092.5(COL4A4):c.2545+2T>G
|
rs1559515075
|
|
|
NM_000092.5(COL4A4):c.2545+9C>G
|
rs2150249516
|
|
|
NM_000092.5(COL4A4):c.2546-11G>A
|
|
|
|
NM_000092.5(COL4A4):c.2546-16C>T
|
|
|
|
NM_000092.5(COL4A4):c.2546-18C>G
|
|
|
|
NM_000092.5(COL4A4):c.2546-1G>A
|
|
|
|
NM_000092.5(COL4A4):c.2546-1G>C
|
rs1553641728
|
|
|
NM_000092.5(COL4A4):c.2546-235del
|
rs56950101
|
|
|
NM_000092.5(COL4A4):c.2546-5C>G
|
|
|
|
NM_000092.5(COL4A4):c.2556T>C (p.Gly852=)
|
|
|
|
NM_000092.5(COL4A4):c.2568G>A (p.Gln856=)
|
rs1576176604
|
|
|
NM_000092.5(COL4A4):c.2574A>C (p.Gly858=)
|
rs1975267171
|
|
|
NM_000092.5(COL4A4):c.2583G>A (p.Gly861=)
|
|
|
|
NM_000092.5(COL4A4):c.2583G>C (p.Gly861=)
|
|
|
|
NM_000092.5(COL4A4):c.2585C>G (p.Pro862Arg)
|
|
|
|
NM_000092.5(COL4A4):c.2594del (p.Pro865fs)
|
rs2150235627
|
|
|
NM_000092.5(COL4A4):c.2599G>T (p.Gly867Ter)
|
rs768902127
|
|
|
NM_000092.5(COL4A4):c.2607A>G (p.Lys869=)
|
rs1406834186
|
|
|
NM_000092.5(COL4A4):c.2611C>T (p.Leu871Phe)
|
rs910142548
|
|
|
NM_000092.5(COL4A4):c.2616del (p.Gly873fs)
|
|
|
|
NM_000092.5(COL4A4):c.2619A>T (p.Gly873=)
|
|
|
|
NM_000092.5(COL4A4):c.2621_2647dup (p.Leu874_Gly882dup)
|
rs765923395
|
|
|
NM_000092.5(COL4A4):c.2624del (p.Pro875fs)
|
|
|
|
NM_000092.5(COL4A4):c.2628_2654dup (p.Arg877_Gly885dup)
|
rs1553641597
|
|
|
NM_000092.5(COL4A4):c.2629_2664del (p.Arg877_Gly888del)
|
rs2150234491
|
|
|
NM_000092.5(COL4A4):c.2629_2664dup (p.Gly888_Ile889insArgProGlyAlaHisGlyProProGlyLeuProGly)
|
|
|
|
NM_000092.5(COL4A4):c.2631G>T (p.Arg877=)
|
|
|
|
NM_000092.5(COL4A4):c.2634T>G (p.Pro878=)
|
rs778726024
|
|
|
NM_000092.5(COL4A4):c.2634_2660del (p.Ala880_Gly888del)
|
|
|
|
NM_000092.5(COL4A4):c.2635G>A (p.Gly879Arg)
|
|
|
|
NM_000092.5(COL4A4):c.2638_2639del (p.Ala880fs)
|
rs1553641611
|
|
|
NM_000092.5(COL4A4):c.2638del (p.Ala880fs)
|
rs778043831
|
|
|
NM_000092.5(COL4A4):c.2639C>G (p.Ala880Gly)
|
|
|
|
NM_000092.5(COL4A4):c.263C>T (p.Ser88Leu)
|
|
|
|
NM_000092.5(COL4A4):c.2647C>A (p.Pro883Thr)
|
rs200761108
|
|
|
NM_000092.5(COL4A4):c.2647C>G (p.Pro883Ala)
|
|
|
|
NM_000092.5(COL4A4):c.2647C>T (p.Pro883Ser)
|
|
|
|
NM_000092.5(COL4A4):c.2651C>T (p.Pro884Leu)
|
|
|
|
NM_000092.5(COL4A4):c.2654G>A (p.Gly885Asp)
|
rs1425028482
|
|
|
NM_000092.5(COL4A4):c.2656dup (p.Leu886fs)
|
|
|
|
NM_000092.5(COL4A4):c.2662G>A (p.Gly888Arg)
|
rs1363277825
|
|
|
NM_000092.5(COL4A4):c.2668C>G (p.Pro890Ala)
|
|
|
|
NM_000092.5(COL4A4):c.2668C>T (p.Pro890Ser)
|
|
|
|
NM_000092.5(COL4A4):c.2672_2673insCATCATC (p.Pro892fs)
|
|
|
|
NM_000092.5(COL4A4):c.2672_2680delinsT (p.Gly891fs)
|
|
|
|
NM_000092.5(COL4A4):c.2682A>C (p.Gly894=)
|
rs1576175164
|
|
|
NM_000092.5(COL4A4):c.2685T>C (p.Asp895=)
|
|
|
|
NM_000092.5(COL4A4):c.2691G>A (p.Gly897=)
|
|
|
|
NM_000092.5(COL4A4):c.2699del (p.Gly900fs)
|
|
|
|
NM_000092.5(COL4A4):c.26T>C (p.Met9Thr)
|
|
|
|
NM_000092.5(COL4A4):c.2709T>A (p.Gly903=)
|
rs2150234177
|
|
|
NM_000092.5(COL4A4):c.2712A>G (p.Pro904=)
|
rs1576174956
|
|
|
NM_000092.5(COL4A4):c.2716+10G>A
|
rs1487588097
|
|
|
NM_000092.5(COL4A4):c.2716+11C>A
|
|
|
|
NM_000092.5(COL4A4):c.2716+12T>A
|
|
|
|
NM_000092.5(COL4A4):c.2716+142C>G
|
rs143532392
|
|
|
NM_000092.5(COL4A4):c.2716+20T>C
|
|
|
|
NM_000092.5(COL4A4):c.2716+2T>A
|
|
|
|
NM_000092.5(COL4A4):c.2717-15C>T
|
|
|
|
NM_000092.5(COL4A4):c.2717-16_2717-15delinsAA
|
rs2150221626
|
|
|
NM_000092.5(COL4A4):c.2717-2A>G
|
rs2150221409
|
|
|
NM_000092.5(COL4A4):c.2721C>T (p.Pro907=)
|
|
|
|
NM_000092.5(COL4A4):c.2722C>T (p.Arg908Trp)
|
|
|
|
NM_000092.5(COL4A4):c.2723G>A (p.Arg908Gln)
|
|
|
|
NM_000092.5(COL4A4):c.2724G>T (p.Arg908=)
|
rs1159655829
|
|
|
NM_000092.5(COL4A4):c.2726G>A (p.Gly909Glu)
|
rs2150221180
|
|
|
NM_000092.5(COL4A4):c.2726G>T (p.Gly909Val)
|
|
|
|
NM_000092.5(COL4A4):c.2727G>A (p.Gly909=)
|
rs562770163
|
|
|
NM_000092.5(COL4A4):c.2730G>A (p.Leu910=)
|
rs2150221087
|
|
|
NM_000092.5(COL4A4):c.2734G>A (p.Gly912Ser)
|
rs1553640846
|
|
|
NM_000092.5(COL4A4):c.2734G>C (p.Gly912Arg)
|
rs1553640846
|
|
|
NM_000092.5(COL4A4):c.273A>G (p.Lys91=)
|
|
|
|
NM_000092.5(COL4A4):c.2742A>G (p.Pro914=)
|
rs2150220933
|
|
|
NM_000092.5(COL4A4):c.274G>T (p.Gly92Ter)
|
rs2061755379
|
|
|
NM_000092.5(COL4A4):c.2753del (p.Gly918fs)
|
rs2150220718
|
|
|
NM_000092.5(COL4A4):c.275G>A (p.Gly92Glu)
|
rs2125036772
|
|
|
NM_000092.5(COL4A4):c.2762del (p.Gly921fs)
|
rs1974906528
|
|
|
NM_000092.5(COL4A4):c.2766G>A (p.Lys922=)
|
|
|
|
NM_000092.5(COL4A4):c.2766G>C (p.Lys922Asn)
|
|
|
|
NM_000092.5(COL4A4):c.2776G>A (p.Glu926Lys)
|
|
|
|
NM_000092.5(COL4A4):c.2781A>G (p.Gly927=)
|
rs1576163418
|
|
|
NM_000092.5(COL4A4):c.2781A>T (p.Gly927=)
|
rs1576163418
|
|
|
NM_000092.5(COL4A4):c.2782_2799del (p.Cys928_Gly933del)
|
|
|
|
NM_000092.5(COL4A4):c.2784T>C (p.Cys928=)
|
|
|
|
NM_000092.5(COL4A4):c.2787T>C (p.Pro929=)
|
|
|
|
NM_000092.5(COL4A4):c.2788G>A (p.Gly930Ser)
|
|
|
|
NM_000092.5(COL4A4):c.2790C>A (p.Gly930=)
|
|
|
|
NM_000092.5(COL4A4):c.2790C>T (p.Gly930=)
|
rs768448299
|
|
|
NM_000092.5(COL4A4):c.2794A>T (p.Lys932Ter)
|
|
|
|
NM_000092.5(COL4A4):c.2802A>G (p.Glu934=)
|
|
|
|
NM_000092.5(COL4A4):c.2803C>A (p.Pro935Thr)
|
|
|
|
NM_000092.5(COL4A4):c.2804C>T (p.Pro935Leu)
|
|
|
|
NM_000092.5(COL4A4):c.2817_2819delinsTATAAGAGACA (p.Met940fs)
|
|
|
|
NM_000092.5(COL4A4):c.2826C>A (p.Gly942=)
|
|
|
|
NM_000092.5(COL4A4):c.2826_2827insAC (p.Leu943fs)
|
rs1559508134
|
|
|
NM_000092.5(COL4A4):c.282A>G (p.Arg94=)
|
|
|
|
NM_000092.5(COL4A4):c.282_283del (p.Asp96fs)
|
rs1559677146
|
|
|
NM_000092.5(COL4A4):c.2833G>T (p.Gly945Ter)
|
rs1303057809
|
|
|
NM_000092.5(COL4A4):c.2841G>A (p.Arg947=)
|
|
|
|
NM_000092.5(COL4A4):c.2842G>A (p.Gly948Arg)
|
|
|
|
NM_000092.5(COL4A4):c.2842G>T (p.Gly948Ter)
|
rs2150219679
|
|
|
NM_000092.5(COL4A4):c.2845C>T (p.Leu949=)
|
rs2150219592
|
|
|
NM_000092.5(COL4A4):c.2846T>C (p.Leu949Pro)
|
|
|
|
NM_000092.5(COL4A4):c.2848A>C (p.Arg950=)
|
|
|
|
NM_000092.5(COL4A4):c.2851G>A (p.Gly951Arg)
|
|
|
|
NM_000092.5(COL4A4):c.2856C>G (p.Ala952=)
|
|
|
|
NM_000092.5(COL4A4):c.2860+11T>A
|
|
|
|
NM_000092.5(COL4A4):c.2860+12A>G
|
|
|
|
NM_000092.5(COL4A4):c.2860+158A>C
|
rs56335810
|
|
|
NM_000092.5(COL4A4):c.2860+16C>G
|
|
|
|
NM_000092.5(COL4A4):c.2860+2T>G
|
rs2150219160
|
|
|
NM_000092.5(COL4A4):c.2860+6T>C
|
|
|
|
NM_000092.5(COL4A4):c.2860+8A>C
|
|
|
|
NM_000092.5(COL4A4):c.2860G>A (p.Gly954Arg)
|
rs2150219187
|
|
|
NM_000092.5(COL4A4):c.2861-10A>G
|
|
|
|
NM_000092.5(COL4A4):c.2861-12T>C
|
|
|
|
NM_000092.5(COL4A4):c.2861-16T>C
|
|
|
|
NM_000092.5(COL4A4):c.2861-17A>T
|
|
|
|
NM_000092.5(COL4A4):c.2861-4A>G
|
|
|
|
NM_000092.5(COL4A4):c.2868A>T (p.Ile956=)
|
|
|
|
NM_000092.5(COL4A4):c.2869G>A (p.Gly957Arg)
|
rs1402343399
|
|
|
NM_000092.5(COL4A4):c.2870G>A (p.Gly957Glu)
|
|
|
|
NM_000092.5(COL4A4):c.2870G>T (p.Gly957Val)
|
rs1559503562
|
|
|
NM_000092.5(COL4A4):c.2871dup (p.Pro958fs)
|
|
|
|
NM_000092.5(COL4A4):c.2878G>C (p.Gly960Arg)
|
rs769783985
|
|
|
NM_000092.5(COL4A4):c.2880dup (p.Asp961fs)
|
|
|
|
NM_000092.5(COL4A4):c.288C>T (p.Asp96=)
|
|
|
|
NM_000092.5(COL4A4):c.2894dup (p.Met965fs)
|
|
|
|
NM_000092.5(COL4A4):c.289C>T (p.Arg97Cys)
|
|
|
|
NM_000092.5(COL4A4):c.2906C>A (p.Ser969Ter)
|
rs35138315
|
|
|
NM_000092.5(COL4A4):c.2908C>T (p.Gln970Ter)
|
rs372413045
|
|
|
NM_000092.5(COL4A4):c.2916A>G (p.Gly972=)
|
rs1974301560
|
|
|
NM_000092.5(COL4A4):c.2922T>C (p.Pro974=)
|
rs762735176
|
|
|
NM_000092.5(COL4A4):c.2925G>C (p.Gly975=)
|
rs559743197
|
|
|
NM_000092.5(COL4A4):c.292_293dup (p.Pro99fs)
|
|
|
|
NM_000092.5(COL4A4):c.2932G>C (p.Gly978Arg)
|
|
|
|
NM_000092.5(COL4A4):c.2940dup (p.Gly981fs)
|
rs1974295317
|
|
|
NM_000092.5(COL4A4):c.2943A>C (p.Gly981=)
|
rs2150194542
|
|
|
NM_000092.5(COL4A4):c.294C>T (p.Gly98=)
|
|
|
|
NM_000092.5(COL4A4):c.2956C>T (p.Pro986Ser)
|
rs1576142052
|
|
|
NM_000092.5(COL4A4):c.2958A>C (p.Pro986=)
|
rs2150194377
|
|
|
NM_000092.5(COL4A4):c.2961A>G (p.Gly987=)
|
|
|
|
NM_000092.5(COL4A4):c.2963A>G (p.Glu988Gly)
|
rs1200638480
|
|
|
NM_000092.5(COL4A4):c.2967_2968del (p.Arg989_Gly990insTer)
|
rs748473278
|
|
|
NM_000092.5(COL4A4):c.2968+102dup
|
rs556605463
|
|
|
NM_000092.5(COL4A4):c.2968+113del
|
rs556605463
|
|
|
NM_000092.5(COL4A4):c.2968+12dup
|
|
|
|
NM_000092.5(COL4A4):c.2968+13G>A
|
|
|
|
NM_000092.5(COL4A4):c.2968+15G>A
|
|
|
|
NM_000092.5(COL4A4):c.2968+1G>T
|
|
|
|
NM_000092.5(COL4A4):c.2968+7A>T
|
|
|
|
NM_000092.5(COL4A4):c.2969-10A>T
|
rs1576130915
|
|
|
NM_000092.5(COL4A4):c.2969-12dup
|
|
|
|
NM_000092.5(COL4A4):c.2969-13C>T
|
|
|
|
NM_000092.5(COL4A4):c.2969-16C>T
|
|
|
|
NM_000092.5(COL4A4):c.2969-1G>C
|
rs1553639043
|
|
|
NM_000092.5(COL4A4):c.2969-5A>G
|
rs2150183184
|
|
|
NM_000092.5(COL4A4):c.2969G>A (p.Gly990Asp)
|
|
|
|
NM_000092.5(COL4A4):c.2971G>C (p.Asp991His)
|
|
|
|
NM_000092.5(COL4A4):c.2977G>A (p.Gly993Arg)
|
|
|
|
NM_000092.5(COL4A4):c.297T>A (p.Pro99=)
|
rs1576662029
|
|
|
NM_000092.5(COL4A4):c.2980dup (p.Thr994fs)
|
|
|
|
NM_000092.5(COL4A4):c.2985C>G (p.Pro995=)
|
|
|
|
NM_000092.5(COL4A4):c.2986G>T (p.Gly996Trp)
|
|
|
|
NM_000092.5(COL4A4):c.2988G>A (p.Gly996=)
|
|
|
|
NM_000092.5(COL4A4):c.2992C>T (p.Gln998Ter)
|
rs1974009894
|
|
|
NM_000092.5(COL4A4):c.3000_3004del (p.Gly1002fs)
|
|
|
|
NM_000092.5(COL4A4):c.3003A>G (p.Arg1001=)
|
rs2150182826
|
|
|
NM_000092.5(COL4A4):c.3005dup (p.Glu1003fs)
|
|
|
|
NM_000092.5(COL4A4):c.3006A>G (p.Gly1002=)
|
rs1381291502
|
|
|
NM_000092.5(COL4A4):c.3009G>A (p.Glu1003=)
|
|
|
|
NM_000092.5(COL4A4):c.3018A>T (p.Arg1006Ser)
|
rs531161419
|
|
|
NM_000092.5(COL4A4):c.3019T>C (p.Tyr1007His)
|
|
|
|
NM_000092.5(COL4A4):c.301G>T (p.Gly101Ter)
|
|
|
|
NM_000092.5(COL4A4):c.3021C>G (p.Tyr1007Ter)
|
rs746105339
|
|
|
NM_000092.5(COL4A4):c.3024A>G (p.Gly1008=)
|
|
|
|
NM_000092.5(COL4A4):c.3027A>G (p.Pro1009=)
|
rs1263267944
|
|
|
NM_000092.5(COL4A4):c.3029C>T (p.Pro1010Leu)
|
|
|
|
NM_000092.5(COL4A4):c.3031G>T (p.Gly1011Ter)
|
|
|
|
NM_000092.5(COL4A4):c.3033A>G (p.Gly1011=)
|
rs2150182461
|
|
|
NM_000092.5(COL4A4):c.3039_3040del (p.His1013fs)
|
|
|
|
NM_000092.5(COL4A4):c.3048A>G (p.Glu1016=)
|
|
|
|
NM_000092.5(COL4A4):c.304G>A (p.Ala102Thr)
|
|
|
|
NM_000092.5(COL4A4):c.3054T>C (p.Gly1018=)
|
|
|
|
NM_000092.5(COL4A4):c.3055G>A (p.Glu1019Lys)
|
|
|
|
NM_000092.5(COL4A4):c.3055G>C (p.Glu1019Gln)
|
rs1057518854
|
|
|
NM_000092.5(COL4A4):c.3058A>T (p.Lys1020Ter)
|
|
|
|
NM_000092.5(COL4A4):c.3060A>G (p.Lys1020=)
|
rs2150182248
|
|
|
NM_000092.5(COL4A4):c.3061G>C (p.Gly1021Arg)
|
|
|
|
NM_000092.5(COL4A4):c.3063T>A (p.Gly1021=)
|
rs1336268980
|
|
|
NM_000092.5(COL4A4):c.3063T>C (p.Gly1021=)
|
rs1336268980
|
|
|
NM_000092.5(COL4A4):c.3064C>T (p.Gln1022Ter)
|
rs1973992894
|
|
|
NM_000092.5(COL4A4):c.3069A>G (p.Pro1023=)
|
|
|
|
NM_000092.5(COL4A4):c.3070G>T (p.Gly1024Trp)
|
rs2150182132
|
|
|
NM_000092.5(COL4A4):c.3073CCT[3] (p.Pro1026_Gly1027insPro)
|
|
|
|
NM_000092.5(COL4A4):c.3075T>C (p.Pro1025=)
|
|
|
|
NM_000092.5(COL4A4):c.3083C>T (p.Pro1028Leu)
|
rs1403780482
|
|
|
NM_000092.5(COL4A4):c.3084C>G (p.Pro1028=)
|
|
|
|
NM_000092.5(COL4A4):c.3085C>T (p.Pro1029Ser)
|
|
|
|
NM_000092.5(COL4A4):c.3086dup (p.Gly1030fs)
|
|
|
|
NM_000092.5(COL4A4):c.3089G>C (p.Gly1030Ala)
|
|
|
|
NM_000092.5(COL4A4):c.3089G>T (p.Gly1030Val)
|
rs772699709
|
|
|
NM_000092.5(COL4A4):c.3090C>A (p.Gly1030=)
|
rs1341200951
|
|
|
NM_000092.5(COL4A4):c.3090C>T (p.Gly1030=)
|
|
|
|
NM_000092.5(COL4A4):c.30G>A (p.Arg10=)
|
|
|
|
NM_000092.5(COL4A4):c.3101C>A (p.Ser1034Ter)
|
rs1576129421
|
|
|
NM_000092.5(COL4A4):c.3102A>T (p.Ser1034=)
|
|
|
|
NM_000092.5(COL4A4):c.3103A>G (p.Thr1035Ala)
|
rs1553638898
|
|
|
NM_000092.5(COL4A4):c.3109C>T (p.Leu1037=)
|
|
|
|
NM_000092.5(COL4A4):c.3109_3110del (p.Leu1037fs)
|
rs1559500363
|
|
|
NM_000092.5(COL4A4):c.3115G>A (p.Gly1039Arg)
|
|
|
|
NM_000092.5(COL4A4):c.3117G>T (p.Gly1039=)
|
rs768161234
|
|
|
NM_000092.5(COL4A4):c.3120C>A (p.Phe1040Leu)
|
|
|
|
NM_000092.5(COL4A4):c.3124G>A (p.Gly1042Ser)
|
|
|
|
NM_000092.5(COL4A4):c.3130_3132delinsT (p.Pro1044fs)
|
|
|
|
NM_000092.5(COL4A4):c.3132A>G (p.Pro1044=)
|
|
|
|
NM_000092.5(COL4A4):c.3135A>C (p.Gly1045=)
|
|
|
|
NM_000092.5(COL4A4):c.313G>A (p.Asp105Asn)
|
|
|
|
NM_000092.5(COL4A4):c.3145G>A (p.Asp1049Asn)
|
|
|
|
NM_000092.5(COL4A4):c.3150+14G>C
|
|
|
|
NM_000092.5(COL4A4):c.3150+20T>C
|
|
|
|
NM_000092.5(COL4A4):c.3150+8G>A
|
rs2150181194
|
|
|
NM_000092.5(COL4A4):c.3150+9C>T
|
|
|
|
NM_000092.5(COL4A4):c.3151-10A>G
|
rs2150173104
|
|
|
NM_000092.5(COL4A4):c.3151-12T>C
|
|
|
|
NM_000092.5(COL4A4):c.3151-14C>A
|
|
|
|
NM_000092.5(COL4A4):c.3151-20T>G
|
|
|
|
NM_000092.5(COL4A4):c.3151-2A>G
|
rs1369097739
|
|
|
NM_000092.5(COL4A4):c.3151-4T>G
|
|
|
|
NM_000092.5(COL4A4):c.3151-5G>T
|
|
|
|
NM_000092.5(COL4A4):c.3151-6T>G
|
|
|
|
NM_000092.5(COL4A4):c.3152G>C (p.Gly1051Ala)
|
|
|
|
NM_000092.5(COL4A4):c.3152G>T (p.Gly1051Val)
|
|
|
|
NM_000092.5(COL4A4):c.3154G>T (p.Glu1052Ter)
|
|
|
|
NM_000092.5(COL4A4):c.3156G>A (p.Glu1052=)
|
|
|
|
NM_000092.5(COL4A4):c.3167C>T (p.Pro1056Leu)
|
|
|
|
NM_000092.5(COL4A4):c.3169G>A (p.Gly1057Ser)
|
|
|
|
NM_000092.5(COL4A4):c.3170G>T (p.Gly1057Val)
|
rs2150172729
|
|
|
NM_000092.5(COL4A4):c.3171T>A (p.Gly1057=)
|
|
|
|
NM_000092.5(COL4A4):c.3174C>T (p.Pro1058=)
|
rs2150172660
|
|
|
NM_000092.5(COL4A4):c.3177T>C (p.Pro1059=)
|
rs2150172636
|
|
|
NM_000092.5(COL4A4):c.3177del (p.Gly1060fs)
|
|
|
|
NM_000092.5(COL4A4):c.317A>G (p.Lys106Arg)
|
|
|
|
NM_000092.5(COL4A4):c.3185C>A (p.Ser1062Ter)
|
|
|
|
NM_000092.5(COL4A4):c.3194_3195del (p.Asp1065fs)
|
|
|
|
NM_000092.5(COL4A4):c.3195T>C (p.Asp1065=)
|
|
|
|
NM_000092.5(COL4A4):c.3196G>C (p.Gly1066Arg)
|
rs1333536476
|
|
|
NM_000092.5(COL4A4):c.3200C>T (p.Ala1067Val)
|
rs1392922149
|
|
|
NM_000092.5(COL4A4):c.3204A>G (p.Arg1068=)
|
|
|
|
NM_000092.5(COL4A4):c.3205G>C (p.Gly1069Arg)
|
rs1973758214
|
|
|
NM_000092.5(COL4A4):c.3206G>A (p.Gly1069Glu)
|
rs2150172344
|
|
|
NM_000092.5(COL4A4):c.3210T>A (p.Pro1070=)
|
|
|
|
NM_000092.5(COL4A4):c.3214+129G>C
|
rs2272203
|
|
|
NM_000092.5(COL4A4):c.3214+14A>T
|
|
|
|
NM_000092.5(COL4A4):c.3214+17C>G
|
|
|
|
NM_000092.5(COL4A4):c.3214+1G>A
|
rs747167770
|
|
|
NM_000092.5(COL4A4):c.3214+1G>T
|
rs747167770
|
|
|
NM_000092.5(COL4A4):c.3214+2T>A
|
|
|
|
NM_000092.5(COL4A4):c.3215-10T>C
|
|
|
|
NM_000092.5(COL4A4):c.3215-11A>G
|
|
|
|
NM_000092.5(COL4A4):c.3215-12T>C
|
|
|
|
NM_000092.5(COL4A4):c.3215-12dup
|
|
|
|
NM_000092.5(COL4A4):c.3215-17C>G
|
|
|
|
NM_000092.5(COL4A4):c.3215-18G>T
|
rs886038230
|
|
|
NM_000092.5(COL4A4):c.3215-20A>G
|
|
|
|
NM_000092.5(COL4A4):c.3215-7C>A
|
|
|
|
NM_000092.5(COL4A4):c.3215-7C>T
|
|
|
|
NM_000092.5(COL4A4):c.3215-8C>A
|
rs2150149565
|
|
|
NM_000092.5(COL4A4):c.3216A>G (p.Gly1072=)
|
|
|
|
NM_000092.5(COL4A4):c.3220A>T (p.Lys1074Ter)
|
rs1973140216
|
|
|
NM_000092.5(COL4A4):c.3222dup (p.Gly1075fs)
|
rs1559493506
|
|
|
NM_000092.5(COL4A4):c.3225T>C (p.Gly1075=)
|
|
|
|
NM_000092.5(COL4A4):c.3228C>A (p.Asp1076Glu)
|
|
|
|
NM_000092.5(COL4A4):c.3234C>T (p.Ala1078=)
|
rs1973137015
|
|
|
NM_000092.5(COL4A4):c.3244_3245delinsT (p.Gly1082fs)
|
|
|
|
NM_000092.5(COL4A4):c.3259A>T (p.Lys1087Ter)
|
rs1973132502
|
|
|
NM_000092.5(COL4A4):c.3262G>T (p.Gly1088Cys)
|
|
|
|
NM_000092.5(COL4A4):c.3263G>A (p.Gly1088Asp)
|
rs2150149041
|
|
|
NM_000092.5(COL4A4):c.3263G>T (p.Gly1088Val)
|
|
|
|
NM_000092.5(COL4A4):c.327+12C>G
|
|
|
|
NM_000092.5(COL4A4):c.327+14T>C
|
|
|
|
NM_000092.5(COL4A4):c.327+17G>A
|
|
|
|
NM_000092.5(COL4A4):c.327+17G>C
|
|
|
|
NM_000092.5(COL4A4):c.327+9C>G
|
rs2061751496
|
|
|
NM_000092.5(COL4A4):c.3270A>C (p.Pro1090=)
|
rs781023890
|
|
|
NM_000092.5(COL4A4):c.3270A>G (p.Pro1090=)
|
rs781023890
|
|
|
NM_000092.5(COL4A4):c.3271G>C (p.Gly1091Arg)
|
rs1973129665
|
|
|
NM_000092.5(COL4A4):c.3272G>A (p.Gly1091Asp)
|
|
|
|
NM_000092.5(COL4A4):c.3278C>A (p.Pro1093His)
|
|
|
|
NM_000092.5(COL4A4):c.328-12C>T
|
|
|
|
NM_000092.5(COL4A4):c.328-17A>G
|
|
|
|
NM_000092.5(COL4A4):c.328-17_328-13del
|
|
|
|
NM_000092.5(COL4A4):c.328-1G>A
|
rs754669149
|
|
|
NM_000092.5(COL4A4):c.328-22_328-18del
|
|
|
|
NM_000092.5(COL4A4):c.328-7A>G
|
|
|
|
NM_000092.5(COL4A4):c.328-8G>A
|
|
|
|
NM_000092.5(COL4A4):c.3281del (p.Gly1094fs)
|
|
|
|
NM_000092.5(COL4A4):c.3285T>C (p.Cys1095=)
|
rs908532580
|
|
|
NM_000092.5(COL4A4):c.3285T>G (p.Cys1095Trp)
|
|
|
|
NM_000092.5(COL4A4):c.3289+10C>T
|
|
|
|
NM_000092.5(COL4A4):c.3289+15T>C
|
|
|
|
NM_000092.5(COL4A4):c.3289+1G>A
|
|
|
|
NM_000092.5(COL4A4):c.3289+1G>C
|
rs1973128133
|
|
|
NM_000092.5(COL4A4):c.3289+1G>T
|
rs1973128133
|
|
|
NM_000092.5(COL4A4):c.3289+5A>G
|
|
|
|
NM_000092.5(COL4A4):c.3289+9G>A
|
rs1973126830
|
|
|
NM_000092.5(COL4A4):c.3290-10C>A
|
|
|
|
NM_000092.5(COL4A4):c.3290-10C>T
|
rs1576043805
|
|
|
NM_000092.5(COL4A4):c.3290-11T>C
|
|
|
|
NM_000092.5(COL4A4):c.3290-138C>A
|
rs115644162
|
|
|
NM_000092.5(COL4A4):c.3290-13T>C
|
|
|
|
NM_000092.5(COL4A4):c.3290-14C>T
|
rs1287740535
|
|
|
NM_000092.5(COL4A4):c.3290-16A>G
|
|
|
|
NM_000092.5(COL4A4):c.3290-5T>C
|
rs762038061
|
|
|
NM_000092.5(COL4A4):c.3290-6_3290-4del
|
|
|
|
NM_000092.5(COL4A4):c.3297del (p.Phe1099fs)
|
|
|
|
NM_000092.5(COL4A4):c.3301G>T (p.Ala1101Ser)
|
rs2150103907
|
|
|
NM_000092.5(COL4A4):c.3304T>A (p.Ser1102Thr)
|
|
|
|
NM_000092.5(COL4A4):c.3306C>G (p.Ser1102=)
|
rs200065408
|
|
|
NM_000092.5(COL4A4):c.3306C>T (p.Ser1102=)
|
rs200065408
|
|
|
NM_000092.5(COL4A4):c.3308G>C (p.Gly1103Ala)
|
|
|
|
NM_000092.5(COL4A4):c.3309A>C (p.Gly1103=)
|
|
|
|
NM_000092.5(COL4A4):c.3310_3313dup (p.Gln1105fs)
|
rs1971796422
|
|
|
NM_000092.5(COL4A4):c.3312del (p.Glu1104fs)
|
|
|
|
NM_000092.5(COL4A4):c.3313C>T (p.Gln1105Ter)
|
|
|
|
NM_000092.5(COL4A4):c.3317G>T (p.Gly1106Val)
|
|
|
|
NM_000092.5(COL4A4):c.3318C>T (p.Gly1106=)
|
|
|
|
NM_000092.5(COL4A4):c.3319_3358del (p.Leu1107fs)
|
rs2150103127
|
|
|
NM_000092.5(COL4A4):c.3321_3339dup (p.Arg1114fs)
|
|
|
|
NM_000092.5(COL4A4):c.3327T>C (p.Gly1109=)
|
rs1971794819
|
|
|
NM_000092.5(COL4A4):c.3328A>G (p.Ile1110Val)
|
|
|
|
NM_000092.5(COL4A4):c.332C>T (p.Pro111Leu)
|
|
|
|
NM_000092.5(COL4A4):c.3331C>A (p.Gln1111Lys)
|
|
|
|
NM_000092.5(COL4A4):c.3331C>T (p.Gln1111Ter)
|
|
|
|
NM_000092.5(COL4A4):c.3336G>A (p.Gly1112=)
|
rs1971793627
|
|
|
NM_000092.5(COL4A4):c.333A>C (p.Pro111=)
|
|
|
|
NM_000092.5(COL4A4):c.3340A>C (p.Arg1114=)
|
|
|
|
NM_000092.5(COL4A4):c.3342A>G (p.Arg1114=)
|
rs2150103409
|
|
|
NM_000092.5(COL4A4):c.3345A>T (p.Gly1115=)
|
rs1260262276
|
|
|
NM_000092.5(COL4A4):c.3347C>G (p.Ser1116Ter)
|
rs1971792460
|
|
|
NM_000092.5(COL4A4):c.3349C>A (p.Pro1117Thr)
|
rs1971792084
|
|
|
NM_000092.5(COL4A4):c.3349C>T (p.Pro1117Ser)
|
|
|
|
NM_000092.5(COL4A4):c.334A>G (p.Thr112Ala)
|
rs1649155828
|
|
|
NM_000092.5(COL4A4):c.3357G>C (p.Arg1119Ser)
|
|
|
|
NM_000092.5(COL4A4):c.3358C>T (p.Pro1120Ser)
|
|
|
|
NM_000092.5(COL4A4):c.3360A>G (p.Pro1120=)
|
|
|
|
NM_000092.5(COL4A4):c.3372C>A (p.Gly1124=)
|
|
|
|
NM_000092.5(COL4A4):c.3374C>T (p.Ser1125Phe)
|
rs766044583
|
|
|
NM_000092.5(COL4A4):c.3375C>A (p.Ser1125=)
|
|
|
|
NM_000092.5(COL4A4):c.3386C>G (p.Pro1129Arg)
|
|
|
|
NM_000092.5(COL4A4):c.3389G>T (p.Gly1130Val)
|
|
|
|
NM_000092.5(COL4A4):c.3390G>A (p.Gly1130=)
|
rs774821528
|
|
|
NM_000092.5(COL4A4):c.3397+17T>A
|
|
|
|
NM_000092.5(COL4A4):c.3397+18C>T
|
|
|
|
NM_000092.5(COL4A4):c.3397+19T>A
|
|
|
|
NM_000092.5(COL4A4):c.3397+1G>C
|
rs1212090722
|
|
|
NM_000092.5(COL4A4):c.3397+8G>A
|
|
|
|
NM_000092.5(COL4A4):c.3397G>T (p.Gly1133Cys)
|
|
|
|
NM_000092.5(COL4A4):c.3398-11G>T
|
|
|
|
NM_000092.5(COL4A4):c.3398-17T>A
|
|
|
|
NM_000092.5(COL4A4):c.3398-18C>A
|
|
|
|
NM_000092.5(COL4A4):c.3398-1G>T
|
|
|
|
NM_000092.5(COL4A4):c.3398-325GTTT[3]
|
rs146714657
|
|
|
NM_000092.5(COL4A4):c.3398-5C>G
|
rs1334751349
|
|
|
NM_000092.5(COL4A4):c.3398-6C>T
|
|
|
|
NM_000092.5(COL4A4):c.33C>T (p.Cys11=)
|
|
|
|
NM_000092.5(COL4A4):c.3407G>C (p.Gly1136Ala)
|
|
|
|
NM_000092.5(COL4A4):c.3408G>A (p.Gly1136=)
|
|
|
|
NM_000092.5(COL4A4):c.3408del (p.Met1137fs)
|
rs1971618196
|
|
|
NM_000092.5(COL4A4):c.3424G>T (p.Gly1142Ter)
|
|
|
|
NM_000092.5(COL4A4):c.342T>A (p.Val114=)
|
|
|
|
NM_000092.5(COL4A4):c.3432A>G (p.Pro1144=)
|
rs1343894106
|
|
|
NM_000092.5(COL4A4):c.3439del (p.Met1147fs)
|
rs1559480432
|
|
|
NM_000092.5(COL4A4):c.3447C>A (p.Asp1149Glu)
|
|
|
|
NM_000092.5(COL4A4):c.3447C>T (p.Asp1149=)
|
rs768108632
|
|
|
NM_000092.5(COL4A4):c.3450T>C (p.Pro1150=)
|
rs751859861
|
|
|
NM_000092.5(COL4A4):c.3457A>T (p.Arg1153Ter)
|
rs1971610561
|
|
|
NM_000092.5(COL4A4):c.345T>C (p.Pro115=)
|
rs760425757
|
|
|
NM_000092.5(COL4A4):c.3460G>A (p.Gly1154Ser)
|
rs2150094978
|
|
|
NM_000092.5(COL4A4):c.3461G>A (p.Gly1154Asp)
|
|
|
|
NM_000092.5(COL4A4):c.3465C>A (p.Leu1155=)
|
|
|
|
NM_000092.5(COL4A4):c.3465C>T (p.Leu1155=)
|
rs765248268
|
|
|
NM_000092.5(COL4A4):c.3466dup (p.Gln1156fs)
|
|
|
|
NM_000092.5(COL4A4):c.347G>A (p.Gly116Glu)
|
rs1553696235
|
|
|
NM_000092.5(COL4A4):c.3483A>C (p.Ile1161=)
|
|
|
|
NM_000092.5(COL4A4):c.3488G>A (p.Gly1163Asp)
|
rs1559480099
|
|
|
NM_000092.5(COL4A4):c.3488G>T (p.Gly1163Val)
|
rs1559480099
|
|
|
NM_000092.5(COL4A4):c.3489T>C (p.Gly1163=)
|
|
|
|
NM_000092.5(COL4A4):c.3492T>A (p.Pro1164=)
|
rs771880741
|
|
|
NM_000092.5(COL4A4):c.3494C>T (p.Pro1165Leu)
|
|
|
|
NM_000092.5(COL4A4):c.3505+10A>T
|
|
|
|
NM_000092.5(COL4A4):c.3505+19C>T
|
|
|
|
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.3505+7C>A
|
rs1484652469
|
|
|
NM_000092.5(COL4A4):c.3505+8A>G
|
rs2150094257
|
|
|
NM_000092.5(COL4A4):c.3506-12G>C
|
|
|
|
NM_000092.5(COL4A4):c.3506-13_3528del
|
rs2149993330
|
|
|
NM_000092.5(COL4A4):c.3506-17C>A
|
|
|
|
NM_000092.5(COL4A4):c.3506-19G>C
|
|
|
|
NM_000092.5(COL4A4):c.3506-20A>G
|
|
|
|
NM_000092.5(COL4A4):c.3506-9G>A
|
rs2149993737
|
|
|
NM_000092.5(COL4A4):c.3506G>A (p.Gly1169Asp)
|
|
|
|
NM_000092.5(COL4A4):c.3513C>G (p.Ser1171=)
|
rs762812157
|
|
|
NM_000092.5(COL4A4):c.3514G>A (p.Gly1172Arg)
|
|
|
|
NM_000092.5(COL4A4):c.3514G>T (p.Gly1172Ter)
|
rs1364773011
|
|
|
NM_000092.5(COL4A4):c.3516A>G (p.Gly1172=)
|
|
|
|
NM_000092.5(COL4A4):c.3522T>C (p.Pro1174=)
|
rs775477147
|
|
|
NM_000092.5(COL4A4):c.3526C>T (p.Leu1176=)
|
rs1575931934
|
|
|
NM_000092.5(COL4A4):c.352C>T (p.Pro118Ser)
|
|
|
|
NM_000092.5(COL4A4):c.3537G>A (p.Leu1179=)
|
|
|
|
NM_000092.5(COL4A4):c.3546G>C (p.Leu1182Phe)
|
|
|
|
NM_000092.5(COL4A4):c.354A>C (p.Pro118=)
|
rs1432438341
|
|
|
NM_000092.5(COL4A4):c.354A>G (p.Pro118=)
|
rs1432438341
|
|
|
NM_000092.5(COL4A4):c.3553C>T (p.Gln1185Ter)
|
|
|
|
NM_000092.5(COL4A4):c.3557A>G (p.Lys1186Arg)
|
|
|
|
NM_000092.5(COL4A4):c.3559G>A (p.Gly1187Arg)
|
rs1968850188
|
|
|
NM_000092.5(COL4A4):c.3564T>C (p.Thr1188=)
|
|
|
|
NM_000092.5(COL4A4):c.3565A>T (p.Lys1189Ter)
|
rs1968848668
|
|
|
NM_000092.5(COL4A4):c.3570T>A (p.Gly1190=)
|
rs1575931307
|
|
|
NM_000092.5(COL4A4):c.3574_3577+8del
|
rs1553627655
|
|
|
NM_000092.5(COL4A4):c.3577+11A>C
|
|
|
|
NM_000092.5(COL4A4):c.3577+14C>G
|
rs370328730
|
|
|
NM_000092.5(COL4A4):c.3577+18T>C
|
|
|
|
NM_000092.5(COL4A4):c.3577+19C>T
|
rs2149992474
|
|
|
NM_000092.5(COL4A4):c.3577+1G>A
|
|
|
|
NM_000092.5(COL4A4):c.3577+20G>A
|
|
|
|
NM_000092.5(COL4A4):c.3577+3A>T
|
rs786205548
|
|
|
NM_000092.5(COL4A4):c.3577+7A>G
|
|
|
|
NM_000092.5(COL4A4):c.3577+8C>T
|
rs2149992583
|
|
|
NM_000092.5(COL4A4):c.3577+9C>G
|
|
|
|
NM_000092.5(COL4A4):c.3577G>T (p.Gly1193Cys)
|
rs1158350974
|
|
|
NM_000092.5(COL4A4):c.3578-10C>T
|
|
|
|
NM_000092.5(COL4A4):c.3578-18T>C
|
|
|
|
NM_000092.5(COL4A4):c.3578-20A>C
|
|
|
|
NM_000092.5(COL4A4):c.3578-2A>G
|
|
|
|
NM_000092.5(COL4A4):c.3578-6A>G
|
|
|
|
NM_000092.5(COL4A4):c.3584ATG[1] (p.Asp1196del)
|
rs780991255
|
|
|
NM_000092.5(COL4A4):c.3593_3594del (p.Gly1198fs)
|
rs1968590611
|
|
|
NM_000092.5(COL4A4):c.3594del (p.Pro1199fs)
|
|
|
|
NM_000092.5(COL4A4):c.3601G>A (p.Gly1201Ser)
|
rs121912858
|
|
|
NM_000092.5(COL4A4):c.3603T>C (p.Gly1201=)
|
|
|
|
NM_000092.5(COL4A4):c.3619G>A (p.Gly1207Arg)
|
rs1968585119
|
|
|
NM_000092.5(COL4A4):c.361G>A (p.Asp121Asn)
|
|
|
|
NM_000092.5(COL4A4):c.3624A>G (p.Leu1208=)
|
|
|
|
NM_000092.5(COL4A4):c.3626_3627del (p.Lys1209fs)
|
|
|
|
NM_000092.5(COL4A4):c.3630G>A (p.Gly1210=)
|
rs267599227
|
|
|
NM_000092.5(COL4A4):c.3630G>T (p.Gly1210=)
|
|
|
|
NM_000092.5(COL4A4):c.3631G>A (p.Glu1211Lys)
|
|
|
|
NM_000092.5(COL4A4):c.3634A>G (p.Arg1212Gly)
|
|
|
|
NM_000092.5(COL4A4):c.3638G>A (p.Gly1213Glu)
|
|
|
|
NM_000092.5(COL4A4):c.3638G>T (p.Gly1213Val)
|
rs1559455617
|
|
|
NM_000092.5(COL4A4):c.3639A>C (p.Gly1213=)
|
|
|
|
NM_000092.5(COL4A4):c.3643C>G (p.Pro1215Ala)
|
|
|
|
NM_000092.5(COL4A4):c.3643C>T (p.Pro1215Ser)
|
|
|
|
NM_000092.5(COL4A4):c.3645T>A (p.Pro1215=)
|
|
|
|
NM_000092.5(COL4A4):c.3647G>A (p.Gly1216Glu)
|
rs2149981074
|
|
|
NM_000092.5(COL4A4):c.3648G>A (p.Gly1216=)
|
|
|
|
NM_000092.5(COL4A4):c.3648del (p.Ser1217fs)
|
|
|
|
NM_000092.5(COL4A4):c.3650G>T (p.Ser1217Ile)
|
|
|
|
NM_000092.5(COL4A4):c.3660C>T (p.Ile1220=)
|
rs1336148521
|
|
|
NM_000092.5(COL4A4):c.3667C>T (p.Pro1223Ser)
|
rs771575941
|
|
|
NM_000092.5(COL4A4):c.3668C>T (p.Pro1223Leu)
|
|
|
|
NM_000092.5(COL4A4):c.3669A>G (p.Pro1223=)
|
rs1303927433
|
|
|
NM_000092.5(COL4A4):c.3675T>G (p.Pro1225=)
|
rs2149980650
|
|
|
NM_000092.5(COL4A4):c.3676C>T (p.Arg1226Cys)
|
|
|
|
NM_000092.5(COL4A4):c.3678T>G (p.Arg1226=)
|
rs1968570536
|
|
|
NM_000092.5(COL4A4):c.3679G>A (p.Gly1227Arg)
|
rs1968570122
|
|
|
NM_000092.5(COL4A4):c.3680dup (p.Lys1229fs)
|
rs2149980503
|
|
|
NM_000092.5(COL4A4):c.3681A>C (p.Gly1227=)
|
|
|
|
NM_000092.5(COL4A4):c.3681A>G (p.Gly1227=)
|
|
|
|
NM_000092.5(COL4A4):c.3687A>G (p.Lys1229=)
|
|
|
|
NM_000092.5(COL4A4):c.3687del (p.Gly1230fs)
|
|
|
|
NM_000092.5(COL4A4):c.3687dup (p.Gly1230fs)
|
|
|
|
NM_000092.5(COL4A4):c.3688G>T (p.Gly1230Cys)
|
rs781360383
|
|
|
NM_000092.5(COL4A4):c.3689G>A (p.Gly1230Asp)
|
|
|
|
NM_000092.5(COL4A4):c.3689G>C (p.Gly1230Ala)
|
|
|
|
NM_000092.5(COL4A4):c.3695del (p.Pro1232fs)
|
|
|
|
NM_000092.5(COL4A4):c.3696A>G (p.Pro1232=)
|
rs1968564790
|
|
|
NM_000092.5(COL4A4):c.3699_3706+1del
|
|
|
|
NM_000092.5(COL4A4):c.3702C>T (p.Pro1234=)
|
rs2149980026
|
|
|
NM_000092.5(COL4A4):c.3704del (p.Pro1235fs)
|
rs754706338
|
|
|
NM_000092.5(COL4A4):c.3704dup (p.Gly1236fs)
|
|
|
|
NM_000092.5(COL4A4):c.3706+10A>C
|
|
|
|
NM_000092.5(COL4A4):c.3706+10A>G
|
rs374988200
|
|
|
NM_000092.5(COL4A4):c.3706+17T>G
|
|
|
|
NM_000092.5(COL4A4):c.3706+20G>T
|
|
|
|
NM_000092.5(COL4A4):c.3706+8G>C
|
|
|
|
NM_000092.5(COL4A4):c.3707-10C>G
|
|
|
|
NM_000092.5(COL4A4):c.3707-12G>A
|
|
|
|
NM_000092.5(COL4A4):c.3707-14A>T
|
|
|
|
NM_000092.5(COL4A4):c.3707-16A>G
|
|
|
|
NM_000092.5(COL4A4):c.3707-19T>C
|
|
|
|
NM_000092.5(COL4A4):c.3707-19T>G
|
|
|
|
NM_000092.5(COL4A4):c.3707-6T>C
|
|
|
|
NM_000092.5(COL4A4):c.3713C>A (p.Ser1238Ter)
|
rs121912859
|
|
|
NM_000092.5(COL4A4):c.3716G>C (p.Gly1239Ala)
|
|
|
|
NM_000092.5(COL4A4):c.3716G>T (p.Gly1239Val)
|
rs1394140383
|
|
|
NM_000092.5(COL4A4):c.3719del (p.Pro1240fs)
|
|
|
|
NM_000092.5(COL4A4):c.372+13A>T
|
|
|
|
NM_000092.5(COL4A4):c.372+14A>C
|
|
|
|
NM_000092.5(COL4A4):c.372+18T>C
|
|
|
|
NM_000092.5(COL4A4):c.372+2T>G
|
rs1553696207
|
|
|
NM_000092.5(COL4A4):c.3729T>C (p.Pro1243=)
|
rs2149978723
|
|
|
NM_000092.5(COL4A4):c.373-163T>C
|
rs56153742
|
|
|
NM_000092.5(COL4A4):c.373-2A>G
|
rs2125001412
|
|
|
NM_000092.5(COL4A4):c.373-4G>T
|
rs2061620013
|
|
|
NM_000092.5(COL4A4):c.3730G>A (p.Ala1244Thr)
|
|
|
|
NM_000092.5(COL4A4):c.3736G>A (p.Ala1246Thr)
|
rs2149978588
|
|
|
NM_000092.5(COL4A4):c.3738C>T (p.Ala1246=)
|
rs2149978554
|
|
|
NM_000092.5(COL4A4):c.373G>C (p.Gly125Arg)
|
rs2061619888
|
|
|
NM_000092.5(COL4A4):c.3751C>A (p.Pro1251Thr)
|
|
|
|
NM_000092.5(COL4A4):c.3754A>G (p.Lys1252Glu)
|
|
|
|
NM_000092.5(COL4A4):c.3755del (p.Lys1252fs)
|
|
|
|
NM_000092.5(COL4A4):c.3761T>C (p.Ile1254Thr)
|
rs1575916161
|
|
|
NM_000092.5(COL4A4):c.3769C>T (p.Pro1257Ser)
|
|
|
|
NM_000092.5(COL4A4):c.3770C>G (p.Pro1257Arg)
|
|
|
|
NM_000092.5(COL4A4):c.3770C>T (p.Pro1257Leu)
|
rs755884665
|
|
|
NM_000092.5(COL4A4):c.3773G>A (p.Gly1258Asp)
|
rs1968521797
|
|
|
NM_000092.5(COL4A4):c.3777A>C (p.Pro1259=)
|
rs2149977933
|
|
|
NM_000092.5(COL4A4):c.3781G>A (p.Gly1261Arg)
|
|
|
|
NM_000092.5(COL4A4):c.378C>T (p.His126=)
|
|
|
|
NM_000092.5(COL4A4):c.3791G>T (p.Gly1264Val)
|
|
|
|
NM_000092.5(COL4A4):c.3796C>T (p.Pro1266Ser)
|
rs267599226
|
|
|
NM_000092.5(COL4A4):c.3802C>T (p.Pro1268Ser)
|
|
|
|
NM_000092.5(COL4A4):c.3807T>C (p.Asp1269=)
|
|
|
|
NM_000092.5(COL4A4):c.380C>G (p.Pro127Arg)
|
|
|
|
NM_000092.5(COL4A4):c.3816A>T (p.Arg1272Ser)
|
|
|
|
NM_000092.5(COL4A4):c.3817+13C>T
|
|
|
|
NM_000092.5(COL4A4):c.3817+14A>T
|
rs1211980109
|
|
|
NM_000092.5(COL4A4):c.3817+15T>A
|
|
|
|
NM_000092.5(COL4A4):c.3817+16G>A
|
|
|
|
NM_000092.5(COL4A4):c.3817+17A>C
|
|
|
|
NM_000092.5(COL4A4):c.3817+238G>C
|
rs115452453
|
|
|
NM_000092.5(COL4A4):c.3817+8del
|
|
|
|
NM_000092.5(COL4A4):c.3817+9G>A
|
|
|
|
NM_000092.5(COL4A4):c.3817G>A (p.Gly1273Arg)
|
|
|
|
NM_000092.5(COL4A4):c.3818-11T>C
|
|
|
|
NM_000092.5(COL4A4):c.3818-12_3818-10del
|
rs2149958389
|
|
|
NM_000092.5(COL4A4):c.3818-15C>A
|
|
|
|
NM_000092.5(COL4A4):c.3818-18T>C
|
|
|
|
NM_000092.5(COL4A4):c.3818-19G>T
|
|
|
|
NM_000092.5(COL4A4):c.3818-1G>A
|
|
|
|
NM_000092.5(COL4A4):c.3818-5G>T
|
|
|
|
NM_000092.5(COL4A4):c.3818-8G>A
|
|
|
|
NM_000092.5(COL4A4):c.381A>G (p.Pro127=)
|
rs2125001104
|
|
|
NM_000092.5(COL4A4):c.3825T>A (p.Pro1275=)
|
rs926864001
|
|
|
NM_000092.5(COL4A4):c.3825T>C (p.Pro1275=)
|
rs926864001
|
|
|
NM_000092.5(COL4A4):c.3825T>G (p.Pro1275=)
|
rs926864001
|
|
|
NM_000092.5(COL4A4):c.3829C>T (p.Pro1277Ser)
|
rs1037084154
|
|
|
NM_000092.5(COL4A4):c.3834dup (p.Gly1279fs)
|
rs1553625684
|
|
|
NM_000092.5(COL4A4):c.3842dup (p.Gly1282fs)
|
rs1575895799
|
|
|
NM_000092.5(COL4A4):c.3844G>T (p.Gly1282Trp)
|
rs777134408
|
|
|
NM_000092.5(COL4A4):c.3846G>A (p.Gly1282=)
|
|
|
|
NM_000092.5(COL4A4):c.3848G>T (p.Ser1283Ile)
|
|
|
|
NM_000092.5(COL4A4):c.3849T>A (p.Ser1283Arg)
|
rs1553625644
|
|
|
NM_000092.5(COL4A4):c.384G>A (p.Gly128=)
|
|
|
|
NM_000092.5(COL4A4):c.3861G>C (p.Leu1287=)
|
rs951695555
|
|
|
NM_000092.5(COL4A4):c.3861_3862insTC (p.Arg1288fs)
|
rs1559450594
|
|
|
NM_000092.5(COL4A4):c.3867G>C (p.Gly1289=)
|
rs2149957075
|
|
|
NM_000092.5(COL4A4):c.3870G>A (p.Glu1290=)
|
|
|
|
NM_000092.5(COL4A4):c.3875G>A (p.Gly1292Asp)
|
rs971779449
|
|
|
NM_000092.5(COL4A4):c.3878A>G (p.Asp1293Gly)
|
rs1559450506
|
|
|
NM_000092.5(COL4A4):c.3878_3881dup (p.Cys1294Ter)
|
rs2149956892
|
|
|
NM_000092.5(COL4A4):c.3879C>T (p.Asp1293=)
|
|
|
|
NM_000092.5(COL4A4):c.3882T>C (p.Cys1294=)
|
rs2149956863
|
|
|
NM_000092.5(COL4A4):c.3882_3883del (p.Cys1294fs)
|
rs2149956832
|
|
|
NM_000092.5(COL4A4):c.3890C>G (p.Pro1297Arg)
|
|
|
|
NM_000092.5(COL4A4):c.3891A>G (p.Pro1297=)
|
|
|
|
NM_000092.5(COL4A4):c.3891A>T (p.Pro1297=)
|
rs914796413
|
|
|
NM_000092.5(COL4A4):c.3897A>G (p.Pro1299=)
|
|
|
|
NM_000092.5(COL4A4):c.3903T>C (p.Gly1301=)
|
rs1463148305
|
|
|
NM_000092.5(COL4A4):c.3909del (p.Gly1304fs)
|
|
|
|
NM_000092.5(COL4A4):c.3912C>G (p.Gly1304=)
|
|
|
|
NM_000092.5(COL4A4):c.3912C>T (p.Gly1304=)
|
|
|
|
NM_000092.5(COL4A4):c.3923C>G (p.Pro1308Arg)
|
|
|
|
NM_000092.5(COL4A4):c.3923del (p.Pro1308fs)
|
rs762504207
|
|
|
NM_000092.5(COL4A4):c.3927A>G (p.Pro1309=)
|
|
|
|
NM_000092.5(COL4A4):c.3933C>A (p.Tyr1311Ter)
|
rs1433065763
|
|
|
NM_000092.5(COL4A4):c.3933C>G (p.Tyr1311Ter)
|
rs1433065763
|
|
|
NM_000092.5(COL4A4):c.3933C>T (p.Tyr1311=)
|
|
|
|
NM_000092.5(COL4A4):c.393A>G (p.Gly131=)
|
|
|
|
NM_000092.5(COL4A4):c.3955G>T (p.Gly1319Ter)
|
|
|
|
NM_000092.5(COL4A4):c.3957A>T (p.Gly1319=)
|
|
|
|
NM_000092.5(COL4A4):c.3961G>C (p.Asp1321His)
|
rs1326584789
|
|
|
NM_000092.5(COL4A4):c.3961del (p.Asp1321fs)
|
|
|
|
NM_000092.5(COL4A4):c.3967C>T (p.Gln1323Ter)
|
rs1489351299
|
|
|
NM_000092.5(COL4A4):c.3973+10T>C
|
|
|
|
NM_000092.5(COL4A4):c.3973+12G>A
|
|
|
|
NM_000092.5(COL4A4):c.3973+16C>T
|
|
|
|
NM_000092.5(COL4A4):c.3973+17G>A
|
|
|
|
NM_000092.5(COL4A4):c.3973+17G>C
|
|
|
|
NM_000092.5(COL4A4):c.3973+1G>T
|
rs755478262
|
|
|
NM_000092.5(COL4A4):c.3973+7A>C
|
|
|
|
NM_000092.5(COL4A4):c.3973+8_3973+11del
|
|
|
|
NM_000092.5(COL4A4):c.3973+9G>A
|
|
|
|
NM_000092.5(COL4A4):c.3973G>T (p.Gly1325Ter)
|
rs764872559
|
|
|
NM_000092.5(COL4A4):c.3974-12dup
|
rs200823182
|
|
|
NM_000092.5(COL4A4):c.3974-13G>A
|
|
|
|
NM_000092.5(COL4A4):c.3974-14T>C
|
rs1427442513
|
|
|
NM_000092.5(COL4A4):c.3974-19T>C
|
|
|
|
NM_000092.5(COL4A4):c.3974-4T>A
|
|
|
|
NM_000092.5(COL4A4):c.3974-4del
|
rs200823182
|
|
|
NM_000092.5(COL4A4):c.3974-8T>C
|
rs2149926026
|
|
|
NM_000092.5(COL4A4):c.3974-9T>C
|
|
|
|
NM_000092.5(COL4A4):c.3974G>A (p.Gly1325Glu)
|
|
|
|
NM_000092.5(COL4A4):c.3975A>G (p.Gly1325=)
|
rs2149925816
|
|
|
NM_000092.5(COL4A4):c.3976C>A (p.Pro1326Thr)
|
rs754359129
|
|
|
NM_000092.5(COL4A4):c.3983G>C (p.Gly1328Ala)
|
rs1553624173
|
|
|
NM_000092.5(COL4A4):c.3986T>C (p.Phe1329Ser)
|
|
|
|
NM_000092.5(COL4A4):c.3987C>T (p.Phe1329=)
|
rs1202711461
|
|
|
NM_000092.5(COL4A4):c.3993A>G (p.Gly1331=)
|
|
|
|
NM_000092.5(COL4A4):c.3996G>T (p.Pro1332=)
|
|
|
|
NM_000092.5(COL4A4):c.3997C>T (p.Gln1333Ter)
|
rs2149925286
|
|
|
NM_000092.5(COL4A4):c.39C>T (p.Phe13=)
|
rs2125388306
|
|
|
NM_000092.5(COL4A4):c.4002_4005dup (p.His1336fs)
|
rs1553624127
|
|
|
NM_000092.5(COL4A4):c.4003C>G (p.Pro1335Ala)
|
rs1331634432
|
|
|
NM_000092.5(COL4A4):c.4005A>C (p.Pro1335=)
|
rs2149925175
|
|
|
NM_000092.5(COL4A4):c.4011A>G (p.Gly1337=)
|
|
|
|
NM_000092.5(COL4A4):c.4020G>A (p.Gly1340=)
|
|
|
|
NM_000092.5(COL4A4):c.4023A>G (p.Pro1341=)
|
|
|
|
NM_000092.5(COL4A4):c.4029A>T (p.Gly1343=)
|
|
|
|
NM_000092.5(COL4A4):c.4035G>C (p.Lys1345Asn)
|
rs1369617472
|
|
|
NM_000092.5(COL4A4):c.4036G>A (p.Gly1346Ser)
|
|
|
|
NM_000092.5(COL4A4):c.4037G>T (p.Gly1346Val)
|
|
|
|
NM_000092.5(COL4A4):c.4041A>T (p.Leu1347Phe)
|
rs16823077
|
|
|
NM_000092.5(COL4A4):c.4051C>G (p.Pro1351Ala)
|
|
|
|
NM_000092.5(COL4A4):c.4058G>A (p.Arg1353Lys)
|
rs747708741
|
|
|
NM_000092.5(COL4A4):c.4063G>A (p.Gly1355Arg)
|
rs1553624029
|
|
|
NM_000092.5(COL4A4):c.4067C>T (p.Pro1356Leu)
|
|
|
|
NM_000092.5(COL4A4):c.4074T>G (p.Gly1358=)
|
|
|
|
NM_000092.5(COL4A4):c.4079C>T (p.Pro1360Leu)
|
|
|
|
NM_000092.5(COL4A4):c.4079del (p.Pro1360fs)
|
|
|
|
NM_000092.5(COL4A4):c.4081+10C>T
|
rs1228230729
|
|
|
NM_000092.5(COL4A4):c.4081+14C>A
|
|
|
|
NM_000092.5(COL4A4):c.4081+14C>T
|
rs1553623984
|
|
|
NM_000092.5(COL4A4):c.4081+15T>C
|
rs1356475870
|
|
|
NM_000092.5(COL4A4):c.4081+18A>G
|
|
|
|
NM_000092.5(COL4A4):c.4081+22A>C
|
rs1553623967
|
|
|
NM_000092.5(COL4A4):c.4081+22A>G
|
rs1553623967
|
|
|
NM_000092.5(COL4A4):c.4081+230_4081+234del
|
rs572098495
|
|
|
NM_000092.5(COL4A4):c.4081+252AT[5]
|
rs55816470
|
|
|
NM_000092.5(COL4A4):c.4082-16C>T
|
|
|
|
NM_000092.5(COL4A4):c.4082-18G>A
|
|
|
|
NM_000092.5(COL4A4):c.4082-1G>T
|
rs1559438651
|
|
|
NM_000092.5(COL4A4):c.4082-20T>C
|
|
|
|
NM_000092.5(COL4A4):c.4082-2A>G
|
|
|
|
NM_000092.5(COL4A4):c.4082-6C>T
|
|
|
|
NM_000092.5(COL4A4):c.4082-7C>T
|
|
|
|
NM_000092.5(COL4A4):c.4090+11C>G
|
|
|
|
NM_000092.5(COL4A4):c.4090+2T>G
|
|
|
|
NM_000092.5(COL4A4):c.4090G>T (p.Gly1364Cys)
|
rs1553622675
|
|
|
NM_000092.5(COL4A4):c.4091-12T>C
|
|
|
|
NM_000092.5(COL4A4):c.4091-17G>A
|
|
|
|
NM_000092.5(COL4A4):c.4091-25_4091-17del
|
|
|
|
NM_000092.5(COL4A4):c.4091-323A>G
|
rs774221440
|
|
|
NM_000092.5(COL4A4):c.4091-346A>G
|
rs753906137
|
|
|
NM_000092.5(COL4A4):c.4091-348T>C
|
rs1553620812
|
|
|
NM_000092.5(COL4A4):c.4091-349G>A
|
rs1434118080
|
|
|
NM_000092.5(COL4A4):c.4091-8_4092del
|
|
|
|
NM_000092.5(COL4A4):c.4093G>T (p.Glu1365Ter)
|
rs2149854376
|
|
|
NM_000092.5(COL4A4):c.4095A>G (p.Glu1365=)
|
rs1966135663
|
|
|
NM_000092.5(COL4A4):c.4096C>T (p.Pro1366Ser)
|
|
|
|
NM_000092.5(COL4A4):c.4097C>T (p.Pro1366Leu)
|
|
|
|
NM_000092.5(COL4A4):c.4097dup (p.Pro1368fs)
|
rs2149854259
|
|
|
NM_000092.5(COL4A4):c.409G>A (p.Gly137Ser)
|
|
|
|
NM_000092.5(COL4A4):c.4101G>A (p.Gly1367=)
|
|
|
|
NM_000092.5(COL4A4):c.410G>T (p.Gly137Val)
|
|
|
|
NM_000092.5(COL4A4):c.4125T>A (p.Cys1375Ter)
|
|
|
|
NM_000092.5(COL4A4):c.412dup (p.Met138fs)
|
rs2125000621
|
|
|
NM_000092.5(COL4A4):c.4139G>A (p.Gly1380Asp)
|
|
|
|
NM_000092.5(COL4A4):c.4141C>T (p.Leu1381Phe)
|
|
|
|
NM_000092.5(COL4A4):c.4142T>C (p.Leu1381Pro)
|
|
|
|
NM_000092.5(COL4A4):c.4150del (p.Ala1384fs)
|
|
|
|
NM_000092.5(COL4A4):c.4151dup (p.Pro1385fs)
|
|
|
|
NM_000092.5(COL4A4):c.4152G>C (p.Ala1384=)
|
rs75398993
|
|
|
NM_000092.5(COL4A4):c.4152G>T (p.Ala1384=)
|
rs75398993
|
|
|
NM_000092.5(COL4A4):c.4153C>T (p.Pro1385Ser)
|
rs2149853379
|
|
|
NM_000092.5(COL4A4):c.4158C>A (p.Gly1386=)
|
|
|
|
NM_000092.5(COL4A4):c.4158C>T (p.Gly1386=)
|
|
|
|
NM_000092.5(COL4A4):c.4163G>A (p.Arg1388Lys)
|
|
|
|
NM_000092.5(COL4A4):c.4165G>A (p.Gly1389Arg)
|
|
|
|
NM_000092.5(COL4A4):c.416G>A (p.Ser139Asn)
|
|
|
|
NM_000092.5(COL4A4):c.4174G>T (p.Gly1392Ter)
|
|
|
|
NM_000092.5(COL4A4):c.4175G>C (p.Gly1392Ala)
|
rs1559429663
|
|
|
NM_000092.5(COL4A4):c.4175del (p.Gly1392fs)
|
|
|
|
NM_000092.5(COL4A4):c.4179C>T (p.Ala1393=)
|
|
|
|
NM_000092.5(COL4A4):c.4187del (p.Leu1396fs)
|
rs2149852923
|
|
|
NM_000092.5(COL4A4):c.4191T>A (p.Pro1397=)
|
|
|
|
NM_000092.5(COL4A4):c.4199G>A (p.Arg1400Lys)
|
|
|
|
NM_000092.5(COL4A4):c.4200dup (p.Gly1401fs)
|
rs2149852637
|
|
|
NM_000092.5(COL4A4):c.4205C>G (p.Pro1402Arg)
|
|
|
|
NM_000092.5(COL4A4):c.4206_4207delinsTC (p.Ser1403Pro)
|
rs2149852514
|
|
|
NM_000092.5(COL4A4):c.4208C>G (p.Ser1403Ter)
|
|
|
|
NM_000092.5(COL4A4):c.420C>A (p.Gly140=)
|
|
|
|
NM_000092.5(COL4A4):c.4216+10G>A
|
rs753712026
|
|
|
NM_000092.5(COL4A4):c.4216+10G>C
|
|
|
|
NM_000092.5(COL4A4):c.4216+10G>T
|
rs753712026
|
|
|
NM_000092.5(COL4A4):c.4216+12A>G
|
|
|
|
NM_000092.5(COL4A4):c.4216+15C>T
|
|
|
|
NM_000092.5(COL4A4):c.4216+16T>C
|
|
|
|
NM_000092.5(COL4A4):c.4216+198ATTTT[6]
|
rs58851340
|
|
|
NM_000092.5(COL4A4):c.4216+1del
|
rs1064796549
|
|
|
NM_000092.5(COL4A4):c.4216+4T>C
|
|
|
|
NM_000092.5(COL4A4):c.4216+7G>A
|
|
|
|
NM_000092.5(COL4A4):c.4216+8C>A
|
|
|
|
NM_000092.5(COL4A4):c.4216+8C>T
|
rs375786898
|
|
|
NM_000092.5(COL4A4):c.4217-16A>G
|
|
|
|
NM_000092.5(COL4A4):c.4217-19A>G
|
rs1249595660
|
|
|
NM_000092.5(COL4A4):c.4217-1G>A
|
rs1161487989
|
|
|
NM_000092.5(COL4A4):c.4217-6G>A
|
|
|
|
NM_000092.5(COL4A4):c.4217-7T>C
|
rs1275450735
|
|
|
NM_000092.5(COL4A4):c.4221C>T (p.Cys1407=)
|
|
|
|
NM_000092.5(COL4A4):c.4226del (p.Gly1409fs)
|
rs1963907888
|
|
|
NM_000092.5(COL4A4):c.4232C>G (p.Pro1411Arg)
|
|
|
|
NM_000092.5(COL4A4):c.4235G>A (p.Gly1412Glu)
|
|
|
|
NM_000092.5(COL4A4):c.4236G>A (p.Gly1412=)
|
|
|
|
NM_000092.5(COL4A4):c.4236G>T (p.Gly1412=)
|
|
|
|
NM_000092.5(COL4A4):c.4238T>G (p.Leu1413Arg)
|
|
|
|
NM_000092.5(COL4A4):c.4242T>C (p.Asp1414=)
|
rs374946510
|
|
|
NM_000092.5(COL4A4):c.4260T>C (p.Asp1420=)
|
|
|
|
NM_000092.5(COL4A4):c.4263C>A (p.Gly1421=)
|
|
|
|
NM_000092.5(COL4A4):c.4266C>T (p.Val1422=)
|
rs2149764506
|
|
|
NM_000092.5(COL4A4):c.4269T>C (p.Pro1423=)
|
rs2149764420
|
|
|
NM_000092.5(COL4A4):c.4271_4272del (p.Gly1424fs)
|
|
|
|
NM_000092.5(COL4A4):c.4278T>C (p.Pro1426=)
|
rs2149764265
|
|
|
NM_000092.5(COL4A4):c.4281G>C (p.Gly1427=)
|
|
|
|
NM_000092.5(COL4A4):c.4287C>G (p.Pro1429=)
|
|
|
|
NM_000092.5(COL4A4):c.428G>T (p.Gly143Val)
|
rs1553695389
|
|
|
NM_000092.5(COL4A4):c.4291C>A (p.Arg1431Ser)
|
|
|
|
NM_000092.5(COL4A4):c.4292G>A (p.Arg1431His)
|
|
|
|
NM_000092.5(COL4A4):c.4298G>A (p.Gly1433Asp)
|
rs1553614863
|
|
|
NM_000092.5(COL4A4):c.429C>T (p.Gly143=)
|
rs2125000237
|
|
|
NM_000092.5(COL4A4):c.4304_4305del (p.Thr1435fs)
|
rs2149763989
|
|
|
NM_000092.5(COL4A4):c.4311_4315dup (p.Gly1439fs)
|
rs1559406956
|
|
|
NM_000092.5(COL4A4):c.4315G>A (p.Gly1439Ser)
|
|
|
|
NM_000092.5(COL4A4):c.4317C>T (p.Gly1439=)
|
rs2149763802
|
|
|
NM_000092.5(COL4A4):c.4324G>T (p.Gly1442Ter)
|
rs1963884904
|
|
|
NM_000092.5(COL4A4):c.4326A>C (p.Gly1442=)
|
|
|
|
NM_000092.5(COL4A4):c.4327G>C (p.Gly1443Arg)
|
rs779769090
|
|
|
NM_000092.5(COL4A4):c.4330C>A (p.Pro1444Thr)
|
|
|
|
NM_000092.5(COL4A4):c.4333+10C>T
|
rs2149763427
|
|
|
NM_000092.5(COL4A4):c.4333+11A>G
|
|
|
|
NM_000092.5(COL4A4):c.4333+16C>T
|
|
|
|
NM_000092.5(COL4A4):c.4333+18C>T
|
|
|
|
NM_000092.5(COL4A4):c.4333+19_4333+21del
|
|
|
|
NM_000092.5(COL4A4):c.4333+1G>T
|
rs1963883799
|
|
|
NM_000092.5(COL4A4):c.4333+2T>C
|
rs755927061
|
|
|
NM_000092.5(COL4A4):c.4333+6G>T
|
|
|
|
NM_000092.5(COL4A4):c.4333+9T>G
|
|
|
|
NM_000092.5(COL4A4):c.4334-13T>C
|
rs2149745878
|
|
|
NM_000092.5(COL4A4):c.4334-16T>C
|
|
|
|
NM_000092.5(COL4A4):c.4334-20T>G
|
|
|
|
NM_000092.5(COL4A4):c.4334-23A>G
|
rs766501515
|
|
|
NM_000092.5(COL4A4):c.4334-3del
|
rs780415519
|
|
|
NM_000092.5(COL4A4):c.4334-6C>T
|
rs2149745790
|
|
|
NM_000092.5(COL4A4):c.4334-9T>A
|
|
|
|
NM_000092.5(COL4A4):c.4334G>A (p.Gly1445Glu)
|
rs1559402680
|
|
|
NM_000092.5(COL4A4):c.4341T>G (p.Pro1447=)
|
rs2149745580
|
|
|
NM_000092.5(COL4A4):c.4346C>G (p.Pro1449Arg)
|
|
|
|
NM_000092.5(COL4A4):c.4347C>G (p.Pro1449=)
|
|
|
|
NM_000092.5(COL4A4):c.4349T>A (p.Ile1450Asn)
|
rs72969704
|
|
|
NM_000092.5(COL4A4):c.4349_4366del (p.Ile1450_Pro1455del)
|
rs2149745228
|
|
|
NM_000092.5(COL4A4):c.4350T>C (p.Ile1450=)
|
rs781031084
|
|
|
NM_000092.5(COL4A4):c.4351G>A (p.Gly1451Arg)
|
rs1963420059
|
|
|
NM_000092.5(COL4A4):c.4358C>T (p.Pro1453Leu)
|
rs2149745307
|
|
|
NM_000092.5(COL4A4):c.4363C>A (p.Pro1455Thr)
|
|
|
|
NM_000092.5(COL4A4):c.4367A>G (p.Lys1456Arg)
|
rs770419378
|
|
|
NM_000092.5(COL4A4):c.436G>A (p.Gly146Ser)
|
rs886055729
|
|
|
NM_000092.5(COL4A4):c.4371G>A (p.Gly1457=)
|
|
|
|
NM_000092.5(COL4A4):c.4371G>C (p.Gly1457=)
|
rs1575715890
|
|
|
NM_000092.5(COL4A4):c.4372T>C (p.Phe1458Leu)
|
|
|
|
NM_000092.5(COL4A4):c.4376G>T (p.Gly1459Val)
|
|
|
|
NM_000092.5(COL4A4):c.4378C>T (p.Pro1460Ser)
|
|
|
|
NM_000092.5(COL4A4):c.4380T>A (p.Pro1460=)
|
|
|
|
NM_000092.5(COL4A4):c.4386C>A (p.Tyr1462Ter)
|
|
|
|
NM_000092.5(COL4A4):c.4396T>C (p.Phe1466Leu)
|
|
|
|
NM_000092.5(COL4A4):c.4398C>T (p.Phe1466=)
|
|
|
|
NM_000092.5(COL4A4):c.4399del (p.Leu1467fs)
|
|
|
|
NM_000092.5(COL4A4):c.4415G>A (p.Ser1472Asn)
|
rs2149744588
|
|
|
NM_000092.5(COL4A4):c.4425C>T (p.Asp1475=)
|
rs2149744466
|
|
|
NM_000092.5(COL4A4):c.4426C>T (p.Gln1476Ter)
|
rs1963402519
|
|
|
NM_000092.5(COL4A4):c.4429G>T (p.Glu1477Ter)
|
rs1367906290
|
|
|
NM_000092.5(COL4A4):c.4431G>A (p.Glu1477=)
|
rs2149744390
|
|
|
NM_000092.5(COL4A4):c.4432C>T (p.Pro1478Ser)
|
|
|
|
NM_000092.5(COL4A4):c.443C>G (p.Pro148Arg)
|
|
|
|
NM_000092.5(COL4A4):c.443C>T (p.Pro148Leu)
|
|
|
|
NM_000092.5(COL4A4):c.4440C>A (p.Cys1480Ter)
|
|
|
|
NM_000092.5(COL4A4):c.4440C>G (p.Cys1480Trp)
|
rs774471575
|
|
|
NM_000092.5(COL4A4):c.4443C>G (p.Pro1481=)
|
rs759470234
|
|
|
NM_000092.5(COL4A4):c.4444del (p.Leu1482fs)
|
rs764752384
|
|
|
NM_000092.5(COL4A4):c.4456A>C (p.Arg1486=)
|
|
|
|
NM_000092.5(COL4A4):c.4456del (p.Arg1486fs)
|
rs2149744042
|
|
|
NM_000092.5(COL4A4):c.4458G>A (p.Arg1486=)
|
|
|
|
NM_000092.5(COL4A4):c.445G>A (p.Gly149Arg)
|
|
|
|
NM_000092.5(COL4A4):c.4460_4463dup (p.Trp1488fs)
|
rs1575714693
|
|
|
NM_000092.5(COL4A4):c.4467T>G (p.Thr1489=)
|
rs1963393483
|
|
|
NM_000092.5(COL4A4):c.446G>A (p.Gly149Glu)
|
|
|
|
NM_000092.5(COL4A4):c.446G>T (p.Gly149Val)
|
rs374815903
|
|
|
NM_000092.5(COL4A4):c.4470G>A (p.Gly1490=)
|
rs1308858968
|
|
|
NM_000092.5(COL4A4):c.4470del (p.Tyr1491fs)
|
rs1963392922
|
|
|
NM_000092.5(COL4A4):c.4472A>G (p.Tyr1491Cys)
|
rs1553613772
|
|
|
NM_000092.5(COL4A4):c.4473_4474dup (p.Ser1492fs)
|
rs2149743813
|
|
|
NM_000092.5(COL4A4):c.4480T>C (p.Leu1494=)
|
rs535070702
|
|
|
NM_000092.5(COL4A4):c.4482A>G (p.Leu1494=)
|
rs2149743763
|
|
|
NM_000092.5(COL4A4):c.4485C>T (p.Tyr1495=)
|
rs1553613757
|
|
|
NM_000092.5(COL4A4):c.4498G>A (p.Glu1500Lys)
|
|
|
|
NM_000092.5(COL4A4):c.4503dup (p.Ala1502fs)
|
rs2149743538
|
|
|
NM_000092.5(COL4A4):c.4508del (p.His1503fs)
|
rs1963379793
|
|
|
NM_000092.5(COL4A4):c.4510A>G (p.Asn1504Asp)
|
|
|
|
NM_000092.5(COL4A4):c.4512T>C (p.Asn1504=)
|
rs1963377875
|
|
|
NM_000092.5(COL4A4):c.4518C>T (p.Asp1506=)
|
rs2149743323
|
|
|
NM_000092.5(COL4A4):c.4519C>T (p.Leu1507Phe)
|
|
|
|
NM_000092.5(COL4A4):c.4522+12G>A
|
|
|
|
NM_000092.5(COL4A4):c.4522+14A>C
|
|
|
|
NM_000092.5(COL4A4):c.4522+16C>T
|
|
|
|
NM_000092.5(COL4A4):c.4522+1G>T
|
rs2149743261
|
|
|
NM_000092.5(COL4A4):c.4522+20del
|
|
|
|
NM_000092.5(COL4A4):c.4522+4T>G
|
rs1963375507
|
|
|
NM_000092.5(COL4A4):c.4522+9A>G
|
|
|
|
NM_000092.5(COL4A4):c.4523-10C>A
|
|
|
|
NM_000092.5(COL4A4):c.4523-17C>G
|
|
|
|
NM_000092.5(COL4A4):c.4523-1G>A
|
|
|
|
NM_000092.5(COL4A4):c.4523-4C>T
|
rs760600045
|
|
|
NM_000092.5(COL4A4):c.4523-8T>G
|
rs13419076
|
|
|
NM_000092.5(COL4A4):c.4524T>C (p.Gly1508=)
|
rs1962656589
|
|
|
NM_000092.5(COL4A4):c.4533G>T (p.Gly1511=)
|
|
|
|
NM_000092.5(COL4A4):c.4538G>A (p.Cys1513Tyr)
|
rs1962651394
|
|
|
NM_000092.5(COL4A4):c.4539C>T (p.Cys1513=)
|
rs943603958
|
|
|
NM_000092.5(COL4A4):c.4544C>T (p.Pro1515Leu)
|
|
|
|
NM_000092.5(COL4A4):c.4544_4556del (p.Pro1515fs)
|
rs2149722718
|
|
|
NM_000092.5(COL4A4):c.4548_4549del (p.Val1516_Phe1517insTer)
|
rs2149722809
|
|
|
NM_000092.5(COL4A4):c.4550T>C (p.Phe1517Ser)
|
rs1575697378
|
|
|
NM_000092.5(COL4A4):c.4550T>G (p.Phe1517Cys)
|
|
|
|
NM_000092.5(COL4A4):c.4555A>C (p.Thr1519Pro)
|
|
|
|
NM_000092.5(COL4A4):c.4556C>T (p.Thr1519Met)
|
|
|
|
NM_000092.5(COL4A4):c.4560G>A (p.Leu1520=)
|
|
|
|
NM_000092.5(COL4A4):c.4562C>G (p.Pro1521Arg)
|
rs1222616093
|
|
|
NM_000092.5(COL4A4):c.4563C>T (p.Pro1521=)
|
rs2149722583
|
|
|
NM_000092.5(COL4A4):c.4572C>T (p.Tyr1524=)
|
|
|
|
NM_000092.5(COL4A4):c.4584C>T (p.His1528=)
|
|
|
|
NM_000092.5(COL4A4):c.4594C>A (p.His1532Asn)
|
rs1962633158
|
|
|
NM_000092.5(COL4A4):c.4599T>G (p.Tyr1533Ter)
|
rs369922627
|
|
|
NM_000092.5(COL4A4):c.4603C>T (p.Gln1535Ter)
|
|
|
|
NM_000092.5(COL4A4):c.4603_4604del (p.Gln1535fs)
|
rs1962628992
|
|
|
NM_000092.5(COL4A4):c.4607G>T (p.Arg1536Ile)
|
|
|
|
NM_000092.5(COL4A4):c.4608A>G (p.Arg1536=)
|
|
|
|
NM_000092.5(COL4A4):c.4610A>G (p.Asn1537Ser)
|
|
|
|
NM_000092.5(COL4A4):c.4614C>G (p.Asp1538Glu)
|
|
|
|
NM_000092.5(COL4A4):c.4620C>T (p.Ser1540=)
|
|
|
|
NM_000092.5(COL4A4):c.4621_4624dup (p.Trp1542fs)
|
rs1559396675
|
|
|
NM_000092.5(COL4A4):c.4628_4631del (p.Leu1543fs)
|
rs1575696646
|
|
|
NM_000092.5(COL4A4):c.4636G>A (p.Ala1546Thr)
|
|
|
|
NM_000092.5(COL4A4):c.4642C>T (p.Pro1548Ser)
|
|
|
|
NM_000092.5(COL4A4):c.4645del (p.Leu1549fs)
|
|
|
|
NM_000092.5(COL4A4):c.4646dup (p.Met1551fs)
|
rs2149721718
|
|
|
NM_000092.5(COL4A4):c.4650C>A (p.Pro1550=)
|
|
|
|
NM_000092.5(COL4A4):c.4660C>T (p.Leu1554Phe)
|
rs1962599188
|
|
|
NM_000092.5(COL4A4):c.4664C>T (p.Ser1555Phe)
|
rs2149721513
|
|
|
NM_000092.5(COL4A4):c.4671G>A (p.Glu1557=)
|
|
|
|
NM_000092.5(COL4A4):c.4674G>C (p.Ala1558=)
|
|
|
|
NM_000092.5(COL4A4):c.4679G>A (p.Arg1560His)
|
|
|
|
NM_000092.5(COL4A4):c.4679_4683del (p.Arg1560fs)
|
rs1553612499
|
|
|
NM_000092.5(COL4A4):c.4680C>T (p.Arg1560=)
|
|
|
|
NM_000092.5(COL4A4):c.4683_4684del (p.Tyr1562fs)
|
|
|
|
NM_000092.5(COL4A4):c.4684del (p.Tyr1562fs)
|
rs1962591629
|
|
|
NM_000092.5(COL4A4):c.4685_4686del (p.Tyr1562fs)
|
rs1481294022
|
|
|
NM_000092.5(COL4A4):c.4688T>G (p.Val1563Gly)
|
rs2149721235
|
|
|
NM_000092.5(COL4A4):c.4689C>G (p.Val1563=)
|
rs1266425452
|
|
|
NM_000092.5(COL4A4):c.4689C>T (p.Val1563=)
|
|
|
|
NM_000092.5(COL4A4):c.468T>C (p.Ala156=)
|
rs2124999375
|
|
|
NM_000092.5(COL4A4):c.4694_4713del (p.Arg1565fs)
|
rs1553612433
|
|
|
NM_000092.5(COL4A4):c.4701G>T (p.Ala1567=)
|
rs375189390
|
|
|
NM_000092.5(COL4A4):c.4707C>T (p.Cys1569=)
|
|
|
|
NM_000092.5(COL4A4):c.4713C>G (p.Ala1571=)
|
rs2149720794
|
|
|
NM_000092.5(COL4A4):c.4713C>T (p.Ala1571=)
|
rs2149720794
|
|
|
NM_000092.5(COL4A4):c.4717del (p.Ala1573fs)
|
rs2149720724
|
|
|
NM_000092.5(COL4A4):c.4719C>A (p.Ala1573=)
|
|
|
|
NM_000092.5(COL4A4):c.4720C>A (p.Gln1574Lys)
|
|
|
|
NM_000092.5(COL4A4):c.4720C>T (p.Gln1574Ter)
|
rs2149720690
|
|
|
NM_000092.5(COL4A4):c.4724C>A (p.Ala1575Glu)
|
|
|
|
NM_000092.5(COL4A4):c.4724C>T (p.Ala1575Val)
|
|
|
|
NM_000092.5(COL4A4):c.4725G>C (p.Ala1575=)
|
|
|
|
NM_000092.5(COL4A4):c.4730_4732del (p.Ala1577del)
|
rs1559395809
|
|
|
NM_000092.5(COL4A4):c.4731G>T (p.Ala1577=)
|
|
|
|
NM_000092.5(COL4A4):c.4734G>A (p.Val1578=)
|
rs2149720454
|
|
|
NM_000092.5(COL4A4):c.4734G>C (p.Val1578=)
|
|
|
|
NM_000092.5(COL4A4):c.4737C>T (p.His1579=)
|
|
|
|
NM_000092.5(COL4A4):c.473G>A (p.Gly158Asp)
|
|
|
|
NM_000092.5(COL4A4):c.4741_4744delinsAAGA (p.Gln1581_Asp1582delinsLysAsn)
|
rs2149720398
|
|
|
NM_000092.5(COL4A4):c.4747C>T (p.Gln1583Ter)
|
|
|
|
NM_000092.5(COL4A4):c.4749G>A (p.Gln1583=)
|
|
|
|
NM_000092.5(COL4A4):c.4752C>T (p.Ser1584=)
|
|
|
|
NM_000092.5(COL4A4):c.4755C>A (p.Ile1585=)
|
rs971543054
|
|
|
NM_000092.5(COL4A4):c.4755C>T (p.Ile1585=)
|
rs971543054
|
|
|
NM_000092.5(COL4A4):c.4758C>A (p.Pro1586=)
|
rs1024093641
|
|
|
NM_000092.5(COL4A4):c.4758C>G (p.Pro1586=)
|
rs1024093641
|
|
|
NM_000092.5(COL4A4):c.4758C>T (p.Pro1586=)
|
rs1024093641
|
|
|
NM_000092.5(COL4A4):c.4760C>A (p.Pro1587Gln)
|
|
|
|
NM_000092.5(COL4A4):c.4760C>G (p.Pro1587Arg)
|
rs190148408
|
|
|
NM_000092.5(COL4A4):c.4760C>T (p.Pro1587Leu)
|
rs190148408
|
|
|
NM_000092.5(COL4A4):c.4760del (p.Pro1587fs)
|
rs1206142672
|
|
|
NM_000092.5(COL4A4):c.4760dup (p.Cys1588fs)
|
rs1206142672
|
|
|
NM_000092.5(COL4A4):c.4762T>A (p.Cys1588Ser)
|
|
|
|
NM_000092.5(COL4A4):c.4762T>C (p.Cys1588Arg)
|
|
|
|
NM_000092.5(COL4A4):c.4763G>A (p.Cys1588Tyr)
|
|
|
|
NM_000092.5(COL4A4):c.4764T>G (p.Cys1588Trp)
|
|
|
|
NM_000092.5(COL4A4):c.4768C>T (p.Gln1590Ter)
|
rs1559395617
|
|
|
NM_000092.5(COL4A4):c.4776G>A (p.Trp1592Ter)
|
|
|
|
NM_000092.5(COL4A4):c.4778G>A (p.Arg1593Lys)
|
|
|
|
NM_000092.5(COL4A4):c.477AGG[3] (p.Gly161dup)
|
rs1553695272
|
|
|
NM_000092.5(COL4A4):c.4781_4807dup (p.Ser1594_Leu1602dup)
|
rs2149719615
|
|
|
NM_000092.5(COL4A4):c.4782C>G (p.Ser1594Arg)
|
rs200799557
|
|
|
NM_000092.5(COL4A4):c.4784T>C (p.Leu1595Pro)
|
|
|
|
NM_000092.5(COL4A4):c.4800A>T (p.Ser1600=)
|
rs2149719648
|
|
|
NM_000092.5(COL4A4):c.4809+14C>T
|
|
|
|
NM_000092.5(COL4A4):c.4809+1G>A
|
rs1553612309
|
|
|
NM_000092.5(COL4A4):c.4809+1G>C
|
|
|
|
NM_000092.5(COL4A4):c.4809+20A>G
|
|
|
|
NM_000092.5(COL4A4):c.4809+6T>A
|
rs1469771734
|
|
|
NM_000092.5(COL4A4):c.4809+7dup
|
rs759784585
|
|
|
NM_000092.5(COL4A4):c.4810-12T>C
|
|
|
|
NM_000092.5(COL4A4):c.4810-16_4810-14del
|
|
|
|
NM_000092.5(COL4A4):c.4810-18C>T
|
|
|
|
NM_000092.5(COL4A4):c.4810-4G>A
|
rs1962439099
|
|
|
NM_000092.5(COL4A4):c.4810-7T>C
|
|
|
|
NM_000092.5(COL4A4):c.4810-8C>G
|
|
|
|
NM_000092.5(COL4A4):c.4820del (p.Ala1607fs)
|
rs1559394354
|
|
|
NM_000092.5(COL4A4):c.4821T>C (p.Ala1607=)
|
|
|
|
NM_000092.5(COL4A4):c.4824G>T (p.Gly1608=)
|
|
|
|
NM_000092.5(COL4A4):c.4827C>T (p.Asp1609=)
|
rs2149715482
|
|
|
NM_000092.5(COL4A4):c.482G>T (p.Gly161Val)
|
rs745672795
|
|
|
NM_000092.5(COL4A4):c.4830AGG[2] (p.Gly1613del)
|
rs768416358
|
|
|
NM_000092.5(COL4A4):c.4836A>G (p.Gly1612=)
|
rs2149715418
|
|
|
NM_000092.5(COL4A4):c.483C>A (p.Gly161=)
|
|
|
|
NM_000092.5(COL4A4):c.4840C>A (p.Gln1614Lys)
|
|
|
|
NM_000092.5(COL4A4):c.4845C>G (p.Ala1615=)
|
rs763223166
|
|
|
NM_000092.5(COL4A4):c.4845C>T (p.Ala1615=)
|
rs763223166
|
|
|
NM_000092.5(COL4A4):c.4849_4850del (p.Met1617fs)
|
rs2149715284
|
|
|
NM_000092.5(COL4A4):c.4851G>C (p.Met1617Ile)
|
|
|
|
NM_000092.5(COL4A4):c.4851_4854dup (p.Pro1619fs)
|
|
|
|
NM_000092.5(COL4A4):c.4860C>A (p.Gly1620=)
|
|
|
|
NM_000092.5(COL4A4):c.4860C>G (p.Gly1620=)
|
rs916895963
|
|
|
NM_000092.5(COL4A4):c.4869G>C (p.Leu1623=)
|
|
|
|
NM_000092.5(COL4A4):c.486C>T (p.Pro162=)
|
|
|
|
NM_000092.5(COL4A4):c.487C>T (p.Leu163=)
|
|
|
|
NM_000092.5(COL4A4):c.487dup (p.Leu163fs)
|
|
|
|
NM_000092.5(COL4A4):c.489+10C>T
|
rs2124998668
|
|
|
NM_000092.5(COL4A4):c.489+11C>G
|
|
|
|
NM_000092.5(COL4A4):c.489+11C>T
|
|
|
|
NM_000092.5(COL4A4):c.489+15G>A
|
|
|
|
NM_000092.5(COL4A4):c.489+6A>G
|
|
|
|
NM_000092.5(COL4A4):c.489+7T>C
|
|
|
|
NM_000092.5(COL4A4):c.4890A>C (p.Pro1630=)
|
|
|
|
NM_000092.5(COL4A4):c.4899A>G (p.Glu1633=)
|
|
|
|
NM_000092.5(COL4A4):c.489A>G (p.Leu163=)
|
rs1177525984
|
|
|
NM_000092.5(COL4A4):c.489dup (p.Gly164fs)
|
rs2124998835
|
|
|
NM_000092.5(COL4A4):c.48C>T (p.Thr16=)
|
rs778093454
|
|
|
NM_000092.5(COL4A4):c.490-16C>T
|
|
|
|
NM_000092.5(COL4A4):c.490-17A>G
|
|
|
|
NM_000092.5(COL4A4):c.490-19A>T
|
rs2124926402
|
|
|
NM_000092.5(COL4A4):c.490-1G>C
|
|
|
|
NM_000092.5(COL4A4):c.490-1G>T
|
|
|
|
NM_000092.5(COL4A4):c.490-20C>T
|
|
|
|
NM_000092.5(COL4A4):c.490-5T>G
|
|
|
|
NM_000092.5(COL4A4):c.4900T>A (p.Cys1634Ser)
|
|
|
|
NM_000092.5(COL4A4):c.4900T>C (p.Cys1634Arg)
|
|
|
|
NM_000092.5(COL4A4):c.4901G>C (p.Cys1634Ser)
|
|
|
|
NM_000092.5(COL4A4):c.4903C>T (p.Gln1635Ter)
|
rs1553611947
|
|
|
NM_000092.5(COL4A4):c.4909C>T (p.Arg1637Trp)
|
|
|
|
NM_000092.5(COL4A4):c.4914G>A (p.Gln1638=)
|
|
|
|
NM_000092.5(COL4A4):c.4916G>A (p.Gly1639Glu)
|
|
|
|
NM_000092.5(COL4A4):c.491G>A (p.Gly164Asp)
|
rs2061397001
|
|
|
NM_000092.5(COL4A4):c.4920T>C (p.Thr1640=)
|
rs2149714482
|
|
|
NM_000092.5(COL4A4):c.4921T>C (p.Cys1641Arg)
|
|
|
|
NM_000092.5(COL4A4):c.4923C>A (p.Cys1641Ter)
|
rs121912862
|
|
|
NM_000092.5(COL4A4):c.492C>T (p.Gly164=)
|
rs2124926064
|
|
|
NM_000092.5(COL4A4):c.4932_4933insT (p.Ala1645fs)
|
|
|
|
NM_000092.5(COL4A4):c.4932delinsTT (p.Ala1645fs)
|
rs1553611909
|
|
|
NM_000092.5(COL4A4):c.4937A>G (p.Asn1646Ser)
|
|
|
|
NM_000092.5(COL4A4):c.4941G>A (p.Lys1647=)
|
|
|
|
NM_000092.5(COL4A4):c.4943A>G (p.Tyr1648Cys)
|
|
|
|
NM_000092.5(COL4A4):c.4944T>C (p.Tyr1648=)
|
|
|
|
NM_000092.5(COL4A4):c.4948T>C (p.Phe1650Leu)
|
rs1553611876
|
|
|
NM_000092.5(COL4A4):c.494A>C (p.His165Pro)
|
rs1395435419
|
|
|
NM_000092.5(COL4A4):c.494A>T (p.His165Leu)
|
|
|
|
NM_000092.5(COL4A4):c.4953G>A (p.Trp1651Ter)
|
rs1408907127
|
|
|
NM_000092.5(COL4A4):c.4962G>C (p.Thr1654=)
|
|
|
|
NM_000092.5(COL4A4):c.4962_4969dup (p.Ala1657delinsGlyTer)
|
rs2149713829
|
|
|
NM_000092.5(COL4A4):c.4965G>A (p.Val1655=)
|
rs2149713851
|
|
|
NM_000092.5(COL4A4):c.4975_4976del (p.Leu1659fs)
|
|
|
|
NM_000092.5(COL4A4):c.498T>C (p.Pro166=)
|
rs775512192
|
|
|
NM_000092.5(COL4A4):c.4995A>T (p.Pro1665=)
|
rs1962378894
|
|
|
NM_000092.5(COL4A4):c.5004C>T (p.Asp1668=)
|
rs2149713558
|
|
|
NM_000092.5(COL4A4):c.5007del (p.Thr1669_Leu1670insTer)
|
rs1308677161
|
|
|
NM_000092.5(COL4A4):c.5018del (p.Ser1673fs)
|
|
|
|
NM_000092.5(COL4A4):c.501G>A (p.Gly167=)
|
|
|
|
NM_000092.5(COL4A4):c.5024_5046del (p.Ala1675fs)
|
rs2149713021
|
|
|
NM_000092.5(COL4A4):c.5025C>A (p.Ala1675=)
|
rs765711277
|
|
|
NM_000092.5(COL4A4):c.5028A>G (p.Gln1676=)
|
rs1386161762
|
|
|
NM_000092.5(COL4A4):c.5030G>A (p.Arg1677His)
|
|
|
|
NM_000092.5(COL4A4):c.5031_5032dup (p.Gln1678fs)
|
rs2149713200
|
|
|
NM_000092.5(COL4A4):c.5043C>T (p.Ser1681=)
|
rs2149713107
|
|
|
NM_000092.5(COL4A4):c.5044del (p.Arg1682fs)
|
rs2149713086
|
|
|
NM_000092.5(COL4A4):c.5059G>A (p.Val1687Met)
|
|
|
|
NM_000092.5(COL4A4):c.5064G>A (p.Lys1688=)
|
rs768552485
|
|
|
NM_000092.5(COL4A4):c.5070C>T (p.Ser1690=)
|
rs762885668
|
|
|
NM_000092.5(COL4A4):c.508G>A (p.Gly170Arg)
|
|
|
|
NM_000092.5(COL4A4):c.510A>G (p.Gly170=)
|
rs2124925592
|
|
|
NM_000092.5(COL4A4):c.511G>T (p.Glu171Ter)
|
|
|
|
NM_000092.5(COL4A4):c.517G>A (p.Gly173Arg)
|
|
|
|
NM_000092.5(COL4A4):c.51G>A (p.Lys17=)
|
|
|
|
NM_000092.5(COL4A4):c.522T>C (p.Asn174=)
|
rs2124925418
|
|
|
NM_000092.5(COL4A4):c.525A>G (p.Ser175=)
|
rs1576617451
|
|
|
NM_000092.5(COL4A4):c.528G>C (p.Val176=)
|
rs2124925201
|
|
|
NM_000092.5(COL4A4):c.536T>G (p.Leu179Ter)
|
rs2124925120
|
|
|
NM_000092.5(COL4A4):c.54C>T (p.Ser18=)
|
|
|
|
NM_000092.5(COL4A4):c.552T>C (p.Gly184=)
|
rs1553692550
|
|
|
NM_000092.5(COL4A4):c.555dup (p.Gln186fs)
|
rs2061393958
|
|
|
NM_000092.5(COL4A4):c.556C>T (p.Gln186Ter)
|
|
|
|
NM_000092.5(COL4A4):c.558+118C>A
|
rs78106309
|
|
|
NM_000092.5(COL4A4):c.558+11T>C
|
|
|
|
NM_000092.5(COL4A4):c.558+12G>A
|
|
|
|
NM_000092.5(COL4A4):c.558+15C>T
|
|
|
|
NM_000092.5(COL4A4):c.558+17T>C
|
|
|
|
NM_000092.5(COL4A4):c.558+1G>A
|
rs2061393783
|
|
|
NM_000092.5(COL4A4):c.558+5G>A
|
|
|
|
NM_000092.5(COL4A4):c.558+9T>C
|
|
|
|
NM_000092.5(COL4A4):c.558+9_558+11del
|
|
|
|
NM_000092.5(COL4A4):c.559-19T>G
|
|
|
|
NM_000092.5(COL4A4):c.559-2A>C
|
rs766243664
|
|
|
NM_000092.5(COL4A4):c.559-300_559-299del
|
rs541059493
|
|
|
NM_000092.5(COL4A4):c.559-4G>T
|
|
|
|
NM_000092.5(COL4A4):c.559-6T>C
|
rs2124853617
|
|
|
NM_000092.5(COL4A4):c.559-9T>G
|
rs1393612363
|
|
|
NM_000092.5(COL4A4):c.559G>A (p.Gly187Arg)
|
|
|
|
NM_000092.5(COL4A4):c.564C>T (p.Asp188=)
|
|
|
|
NM_000092.5(COL4A4):c.565A>C (p.Arg189=)
|
|
|
|
NM_000092.5(COL4A4):c.567_568del (p.Asp191fs)
|
|
|
|
NM_000092.5(COL4A4):c.592C>T (p.Pro198Ser)
|
rs1039244540
|
|
|
NM_000092.5(COL4A4):c.594+10C>T
|
rs2124851875
|
|
|
NM_000092.5(COL4A4):c.594+164G>T
|
rs4306711
|
|
|
NM_000092.5(COL4A4):c.594+1G>A
|
rs1553690565
|
|
|
NM_000092.5(COL4A4):c.594+7C>T
|
rs2124851957
|
|
|
NM_000092.5(COL4A4):c.595-10T>C
|
|
|
|
NM_000092.5(COL4A4):c.595-18G>C
|
|
|
|
NM_000092.5(COL4A4):c.595-20C>T
|
|
|
|
NM_000092.5(COL4A4):c.595-258G>A
|
rs149236202
|
|
|
NM_000092.5(COL4A4):c.595-2A>G
|
|
|
|
NM_000092.5(COL4A4):c.595-6G>A
|
rs2150879224
|
|
|
NM_000092.5(COL4A4):c.595-6del
|
|
|
|
NM_000092.5(COL4A4):c.595-9C>T
|
rs2150879342
|
|
|
NM_000092.5(COL4A4):c.595G>T (p.Gly199Ter)
|
rs750345987
|
|
|
NM_000092.5(COL4A4):c.596G>C (p.Gly199Ala)
|
|
|
|
NM_000092.5(COL4A4):c.596G>T (p.Gly199Val)
|
rs1559646395
|
|
|
NM_000092.5(COL4A4):c.597A>G (p.Gly199=)
|
|
|
|
NM_000092.5(COL4A4):c.600T>A (p.Ser200=)
|
|
|
|
NM_000092.5(COL4A4):c.600T>C (p.Ser200=)
|
|
|
|
NM_000092.5(COL4A4):c.600T>G (p.Ser200=)
|
rs549182013
|
|
|
NM_000092.5(COL4A4):c.603G>A (p.Trp201Ter)
|
rs2061041235
|
|
|
NM_000092.5(COL4A4):c.609A>C (p.Ala203=)
|
rs1576576318
|
|
|
NM_000092.5(COL4A4):c.609A>G (p.Ala203=)
|
rs1576576318
|
|
|
NM_000092.5(COL4A4):c.60C>T (p.Ala20=)
|
rs2125387939
|
|
|
NM_000092.5(COL4A4):c.617C>T (p.Pro206Leu)
|
|
|
|
NM_000092.5(COL4A4):c.619G>A (p.Ala207Thr)
|
|
|
|
NM_000092.5(COL4A4):c.624T>A (p.Gly208=)
|
rs775248956
|
|
|
NM_000092.5(COL4A4):c.635A>T (p.Tyr212Phe)
|
|
|
|
NM_000092.5(COL4A4):c.639T>C (p.Pro213=)
|
|
|
|
NM_000092.5(COL4A4):c.640G>T (p.Gly214Ter)
|
|
|
|
NM_000092.5(COL4A4):c.644_646del (p.Glu215_Pro216delinsAla)
|
rs1553688712
|
|
|
NM_000092.5(COL4A4):c.645G>A (p.Glu215=)
|
rs2061038127
|
|
|
NM_000092.5(COL4A4):c.645G>C (p.Glu215Asp)
|
|
|
|
NM_000092.5(COL4A4):c.657+15G>A
|
|
|
|
NM_000092.5(COL4A4):c.657+1G>T
|
rs1553688696
|
|
|
NM_000092.5(COL4A4):c.657+20T>C
|
|
|
|
NM_000092.5(COL4A4):c.657+2dup
|
rs2150877933
|
|
|
NM_000092.5(COL4A4):c.657+9A>C
|
|
|
|
NM_000092.5(COL4A4):c.658-10C>T
|
rs2150873393
|
|
|
NM_000092.5(COL4A4):c.658-15T>C
|
|
|
|
NM_000092.5(COL4A4):c.658-15dup
|
rs747697337
|
|
|
NM_000092.5(COL4A4):c.658-2A>G
|
rs2061011908
|
|
|
NM_000092.5(COL4A4):c.658-4T>G
|
|
|
|
NM_000092.5(COL4A4):c.658-7G>A
|
rs746408938
|
|
|
NM_000092.5(COL4A4):c.658-9T>A
|
|
|
|
NM_000092.5(COL4A4):c.663T>C (p.Pro221=)
|
|
|
|
NM_000092.5(COL4A4):c.663del (p.Pro222fs)
|
|
|
|
NM_000092.5(COL4A4):c.666G>T (p.Pro222=)
|
rs111945121
|
|
|
NM_000092.5(COL4A4):c.666_667insA (p.Gly223fs)
|
|
|
|
NM_000092.5(COL4A4):c.669C>G (p.Gly223=)
|
|
|
|
NM_000092.5(COL4A4):c.669C>T (p.Gly223=)
|
|
|
|
NM_000092.5(COL4A4):c.673_680del (p.Pro225fs)
|
rs1553688330
|
|
|
NM_000092.5(COL4A4):c.674C>G (p.Pro225Arg)
|
|
|
|
NM_000092.5(COL4A4):c.678G>A (p.Gly226=)
|
rs2150872774
|
|
|
NM_000092.5(COL4A4):c.678_682dup (p.Pro228fs)
|
rs1576571835
|
|
|
NM_000092.5(COL4A4):c.679C>T (p.Arg227Cys)
|
|
|
|
NM_000092.5(COL4A4):c.680G>A (p.Arg227His)
|
rs368248078
|
|
|
NM_000092.5(COL4A4):c.680G>C (p.Arg227Pro)
|
|
|
|
NM_000092.5(COL4A4):c.681T>C (p.Arg227=)
|
rs1180066328
|
|
|
NM_000092.5(COL4A4):c.683C>A (p.Pro228Gln)
|
|
|
|
NM_000092.5(COL4A4):c.684A>G (p.Pro228=)
|
rs2150872532
|
|
|
NM_000092.5(COL4A4):c.693+13G>A
|
|
|
|
NM_000092.5(COL4A4):c.693+16C>A
|
|
|
|
NM_000092.5(COL4A4):c.693+2T>C
|
|
|
|
NM_000092.5(COL4A4):c.693G>A (p.Lys231=)
|
rs1559644463
|
|
|
NM_000092.5(COL4A4):c.694-12T>C
|
|
|
|
NM_000092.5(COL4A4):c.694-13A>G
|
|
|
|
NM_000092.5(COL4A4):c.694-1G>C
|
|
|
|
NM_000092.5(COL4A4):c.694-2A>T
|
|
|
|
NM_000092.5(COL4A4):c.694-6T>C
|
rs2150870159
|
|
|
NM_000092.5(COL4A4):c.694-9C>A
|
|
|
|
NM_000092.5(COL4A4):c.69C>A (p.Pro23=)
|
|
|
|
NM_000092.5(COL4A4):c.6G>A (p.Trp2Ter)
|
rs1382380215
|
|
|
NM_000092.5(COL4A4):c.705T>C (p.Gly235=)
|
rs2150869941
|
|
|
NM_000092.5(COL4A4):c.71+10C>A
|
rs374140251
|
|
|
NM_000092.5(COL4A4):c.71+12C>T
|
|
|
|
NM_000092.5(COL4A4):c.71+1G>A
|
rs1559742015
|
|
|
NM_000092.5(COL4A4):c.71+1del
|
rs2125387640
|
|
|
NM_000092.5(COL4A4):c.710del (p.Gly237fs)
|
rs2060994755
|
|
|
NM_000092.5(COL4A4):c.711A>T (p.Gly237=)
|
|
|
|
NM_000092.5(COL4A4):c.713T>C (p.Val238Ala)
|
|
|
|
NM_000092.5(COL4A4):c.717G>A (p.Lys239=)
|
rs2150869787
|
|
|
NM_000092.5(COL4A4):c.718G>C (p.Gly240Arg)
|
rs2060994526
|
|
|
NM_000092.5(COL4A4):c.719G>A (p.Gly240Glu)
|
rs1559643753
|
|
|
NM_000092.5(COL4A4):c.71G>A (p.Trp24Ter)
|
rs1201925443
|
|
|
NM_000092.5(COL4A4):c.72-10T>C
|
|
|
|
NM_000092.5(COL4A4):c.72-19C>T
|
|
|
|
NM_000092.5(COL4A4):c.72-1G>T
|
rs2063421489
|
|
|
NM_000092.5(COL4A4):c.72-20G>A
|
|
|
|
NM_000092.5(COL4A4):c.72-3T>C
|
|
|
|
NM_000092.5(COL4A4):c.72-6C>T
|
|
|
|
NM_000092.5(COL4A4):c.721C>A (p.Gln241Lys)
|
|
|
|
NM_000092.5(COL4A4):c.727G>T (p.Gly243Ter)
|
|
|
|
NM_000092.5(COL4A4):c.728G>A (p.Gly243Glu)
|
|
|
|
NM_000092.5(COL4A4):c.72G>A (p.Trp24Ter)
|
rs2125348371
|
|
|
NM_000092.5(COL4A4):c.731A>C (p.Asp244Ala)
|
rs2060993539
|
|
|
NM_000092.5(COL4A4):c.735+10C>A
|
|
|
|
NM_000092.5(COL4A4):c.735+12C>G
|
|
|
|
NM_000092.5(COL4A4):c.735+12C>T
|
|
|
|
NM_000092.5(COL4A4):c.735+18C>T
|
|
|
|
NM_000092.5(COL4A4):c.735+202T>A
|
rs7600536
|
|
|
NM_000092.5(COL4A4):c.735+4A>G
|
|
|
|
NM_000092.5(COL4A4):c.735+8T>C
|
rs2150869393
|
|
|
NM_000092.5(COL4A4):c.735G>C (p.Pro245=)
|
rs923865420
|
|
|
NM_000092.5(COL4A4):c.736-10T>A
|
rs201175819
|
|
|
NM_000092.5(COL4A4):c.736-13T>C
|
|
|
|
NM_000092.5(COL4A4):c.736-13dup
|
rs750699545
|
|
|
NM_000092.5(COL4A4):c.736-14C>T
|
|
|
|
NM_000092.5(COL4A4):c.736-15G>C
|
|
|
|
NM_000092.5(COL4A4):c.736-19T>A
|
|
|
|
NM_000092.5(COL4A4):c.736-4T>A
|
|
|
|
NM_000092.5(COL4A4):c.736-4del
|
rs750699545
|
|
|
NM_000092.5(COL4A4):c.736-8T>A
|
rs1306271313
|
|
|
NM_000092.5(COL4A4):c.736-9T>C
|
rs530821863
|
|
|
NM_000092.5(COL4A4):c.737G>A (p.Gly246Asp)
|
rs1559631986
|
|
|
NM_000092.5(COL4A4):c.737G>C (p.Gly246Ala)
|
rs1559631986
|
|
|
NM_000092.5(COL4A4):c.73T>G (p.Ser25Ala)
|
rs2125348343
|
|
|
NM_000092.5(COL4A4):c.744T>C (p.Val248=)
|
|
|
|
NM_000092.5(COL4A4):c.748C>T (p.Gln250Ter)
|
rs2060674137
|
|
|
NM_000092.5(COL4A4):c.750G>A (p.Gln250=)
|
rs2150806337
|
|
|
NM_000092.5(COL4A4):c.753A>G (p.Gln251=)
|
rs1280485234
|
|
|
NM_000092.5(COL4A4):c.755G>A (p.Gly252Asp)
|
rs760795817
|
|
|
NM_000092.5(COL4A4):c.755G>C (p.Gly252Ala)
|
|
|
|
NM_000092.5(COL4A4):c.759T>A (p.Ser253=)
|
|
|
|
NM_000092.5(COL4A4):c.75A>G (p.Ser25=)
|
rs2063421212
|
|
|
NM_000092.5(COL4A4):c.75_76del (p.Leu26fs)
|
|
|
|
NM_000092.5(COL4A4):c.762T>A (p.Pro254=)
|
rs2150806188
|
|
|
NM_000092.5(COL4A4):c.762T>C (p.Pro254=)
|
rs2150806188
|
|
|
NM_000092.5(COL4A4):c.764G>A (p.Gly255Glu)
|
rs2060673481
|
|
|
NM_000092.5(COL4A4):c.766C>T (p.Pro256Ser)
|
rs773445256
|
|
|
NM_000092.5(COL4A4):c.77_78del (p.Leu26fs)
|
|
|
|
NM_000092.5(COL4A4):c.784_790del (p.Pro262fs)
|
rs2150805752
|
|
|
NM_000092.5(COL4A4):c.786A>C (p.Pro262=)
|
|
|
|
NM_000092.5(COL4A4):c.786A>T (p.Pro262=)
|
rs1424250203
|
|
|
NM_000092.5(COL4A4):c.792C>T (p.Asp264=)
|
|
|
|
NM_000092.5(COL4A4):c.794_804del (p.Asp264_Phe265insTer)
|
rs2150805456
|
|
|
NM_000092.5(COL4A4):c.798T>C (p.Cys266=)
|
|
|
|
NM_000092.5(COL4A4):c.801C>T (p.Leu267=)
|
rs2150805570
|
|
|
NM_000092.5(COL4A4):c.801_802del (p.Leu267_Tyr268insTer)
|
rs2060671183
|
|
|
NM_000092.5(COL4A4):c.803A>G (p.Tyr268Cys)
|
|
|
|
NM_000092.5(COL4A4):c.805A>G (p.Lys269Glu)
|
rs2150805428
|
|
|
NM_000092.5(COL4A4):c.810A>T (p.Gly270=)
|
|
|
|
NM_000092.5(COL4A4):c.816+10A>G
|
rs2150805253
|
|
|
NM_000092.5(COL4A4):c.816+124del
|
rs375974718
|
|
|
NM_000092.5(COL4A4):c.816+12A>T
|
rs886055728
|
|
|
NM_000092.5(COL4A4):c.816+14C>G
|
|
|
|
NM_000092.5(COL4A4):c.816+14C>T
|
|
|
|
NM_000092.5(COL4A4):c.816+15C>T
|
|
|
|
NM_000092.5(COL4A4):c.816+18A>G
|
|
|
|
NM_000092.5(COL4A4):c.816+18_816+19del
|
|
|
|
NM_000092.5(COL4A4):c.816+19T>C
|
|
|
|
NM_000092.5(COL4A4):c.816+20G>A
|
|
|
|
NM_000092.5(COL4A4):c.816+2T>G
|
|
|
|
NM_000092.5(COL4A4):c.816+7C>T
|
rs2150805314
|
|
|
NM_000092.5(COL4A4):c.816+8C>T
|
rs2150805287
|
|
|
NM_000092.5(COL4A4):c.817-112dup
|
rs111292507
|
|
|
NM_000092.5(COL4A4):c.817-11G>A
|
|
|
|
NM_000092.5(COL4A4):c.817-11G>T
|
|
|
|
NM_000092.5(COL4A4):c.817-14A>G
|
|
|
|
NM_000092.5(COL4A4):c.817-17T>C
|
|
|
|
NM_000092.5(COL4A4):c.817-1G>A
|
rs2150794687
|
|
|
NM_000092.5(COL4A4):c.817-1G>C
|
rs2150794687
|
|
|
NM_000092.5(COL4A4):c.817-6T>G
|
rs2060623868
|
|
|
NM_000092.5(COL4A4):c.817-7T>A
|
rs2150794756
|
|
|
NM_000092.5(COL4A4):c.817-9A>C
|
|
|
|
NM_000092.5(COL4A4):c.818G>T (p.Gly273Val)
|
|
|
|
NM_000092.5(COL4A4):c.819_821dup (p.Ile274_Lys275insIle)
|
|
|
|
NM_000092.5(COL4A4):c.81_86del (p.27IL[1])
|
rs771943519
|
|
|
NM_000092.5(COL4A4):c.827G>C (p.Gly276Ala)
|
|
|
|
NM_000092.5(COL4A4):c.836G>A (p.Gly279Glu)
|
rs2060622881
|
|
|
NM_000092.5(COL4A4):c.841G>T (p.Val281Phe)
|
|
|
|
NM_000092.5(COL4A4):c.843T>C (p.Val281=)
|
rs1335068296
|
|
|
NM_000092.5(COL4A4):c.846A>C (p.Gly282=)
|
rs553087192
|
|
|
NM_000092.5(COL4A4):c.846A>G (p.Gly282=)
|
|
|
|
NM_000092.5(COL4A4):c.847C>A (p.Leu283Met)
|
rs2060622187
|
|
|
NM_000092.5(COL4A4):c.849G>A (p.Leu283=)
|
rs2150794070
|
|
|
NM_000092.5(COL4A4):c.849G>T (p.Leu283=)
|
|
|
|
NM_000092.5(COL4A4):c.84C>T (p.Leu28=)
|
|
|
|
NM_000092.5(COL4A4):c.853G>A (p.Gly285Arg)
|
rs2150793962
|
|
|
NM_000092.5(COL4A4):c.854G>A (p.Gly285Glu)
|
rs2060621902
|
|
|
NM_000092.5(COL4A4):c.864A>G (p.Gly288=)
|
|
|
|
NM_000092.5(COL4A4):c.866G>A (p.Arg289His)
|
|
|
|
NM_000092.5(COL4A4):c.868A>T (p.Lys290Ter)
|
|
|
|
NM_000092.5(COL4A4):c.870+10T>A
|
rs2150793409
|
|
|
NM_000092.5(COL4A4):c.870+13A>T
|
|
|
|
NM_000092.5(COL4A4):c.870+18C>G
|
rs757340940
|
|
|
NM_000092.5(COL4A4):c.870+18C>T
|
|
|
|
NM_000092.5(COL4A4):c.870+18_870+19del
|
|
|
|
NM_000092.5(COL4A4):c.870+18del
|
|
|
|
NM_000092.5(COL4A4):c.870+19T>C
|
|
|
|
NM_000092.5(COL4A4):c.870+20T>C
|
|
|
|
NM_000092.5(COL4A4):c.870+29del
|
rs10707643
|
|
|
NM_000092.5(COL4A4):c.870+3A>G
|
|
|
|
NM_000092.5(COL4A4):c.870+7del
|
|
|
|
NM_000092.5(COL4A4):c.870G>A (p.Lys290=)
|
rs2060620860
|
|
|
NM_000092.5(COL4A4):c.871-15T>C
|
|
|
|
NM_000092.5(COL4A4):c.871-16T>C
|
|
|
|
NM_000092.5(COL4A4):c.871-1G>A
|
rs375450996
|
|
|
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.879T>C (p.Ser293=)
|
|
|
|
NM_000092.5(COL4A4):c.881G>T (p.Gly294Val)
|
|
|
|
NM_000092.5(COL4A4):c.885del (p.Ile295fs)
|
rs2150788209
|
|
|
NM_000092.5(COL4A4):c.891A>G (p.Ala297=)
|
rs971208211
|
|
|
NM_000092.5(COL4A4):c.894A>G (p.Lys298=)
|
|
|
|
NM_000092.5(COL4A4):c.895G>A (p.Gly299Arg)
|
|
|
|
NM_000092.5(COL4A4):c.901A>G (p.Lys301Glu)
|
|
|
|
NM_000092.5(COL4A4):c.903dup (p.Gly302fs)
|
rs1559628183
|
|
|
NM_000092.5(COL4A4):c.904G>T (p.Gly302Cys)
|
rs2150787894
|
|
|
NM_000092.5(COL4A4):c.905G>C (p.Gly302Ala)
|
|
|
|
NM_000092.5(COL4A4):c.905G>T (p.Gly302Val)
|
rs777687210
|
|
|
NM_000092.5(COL4A4):c.913G>A (p.Gly305Arg)
|
rs1045939403
|
|
|
NM_000092.5(COL4A4):c.913G>T (p.Gly305Ter)
|
|
|
|
NM_000092.5(COL4A4):c.914_930+29del
|
rs1553683757
|
|
|
NM_000092.5(COL4A4):c.919C>A (p.Pro307Thr)
|
|
|
|
NM_000092.5(COL4A4):c.921A>G (p.Pro307=)
|
|
|
|
NM_000092.5(COL4A4):c.924del (p.Pro309fs)
|
|
|
|
NM_000092.5(COL4A4):c.927T>C (p.Pro309=)
|
|
|
|
NM_000092.5(COL4A4):c.930+10A>T
|
|
|
|
NM_000092.5(COL4A4):c.930+175G>C
|
rs1574391
|
|
|
NM_000092.5(COL4A4):c.930+18T>C
|
|
|
|
NM_000092.5(COL4A4):c.930+1G>A
|
rs2150787516
|
|
|
NM_000092.5(COL4A4):c.930+240C>G
|
rs1574390
|
|
|
NM_000092.5(COL4A4):c.930+4A>G
|
rs2150787463
|
|
|
NM_000092.5(COL4A4):c.930+5G>A
|
|
|
|
NM_000092.5(COL4A4):c.930+8T>C
|
|
|
|
NM_000092.5(COL4A4):c.931-10A>T
|
rs771370326
|
|
|
NM_000092.5(COL4A4):c.931-12T>C
|
|
|
|
NM_000092.5(COL4A4):c.931-13G>T
|
|
|
|
NM_000092.5(COL4A4):c.931-18dup
|
rs746509796
|
|
|
NM_000092.5(COL4A4):c.93_94del (p.Ser32fs)
|
|
|
|
NM_000092.5(COL4A4):c.940G>T (p.Gly314Cys)
|
|
|
|
NM_000092.5(COL4A4):c.941G>A (p.Gly314Asp)
|
rs1005389790
|
|
|
NM_000092.5(COL4A4):c.941G>T (p.Gly314Val)
|
rs1005389790
|
|
|
NM_000092.5(COL4A4):c.945C>G (p.Ser315=)
|
|
|
|
NM_000092.5(COL4A4):c.945dup (p.Tyr316fs)
|
|
|
|
NM_000092.5(COL4A4):c.948T>A (p.Tyr316Ter)
|
rs34509421
|
|
|
NM_000092.5(COL4A4):c.951A>G (p.Gly317=)
|
rs2060544429
|
|
|
NM_000092.5(COL4A4):c.953C>T (p.Ser318Phe)
|
|
|
|
NM_000092.5(COL4A4):c.954T>G (p.Ser318=)
|
rs1576512293
|
|
|
NM_000092.5(COL4A4):c.958G>A (p.Gly320Ser)
|
|
|
|
NM_000092.5(COL4A4):c.962T>C (p.Phe321Ser)
|
|
|
|
NM_000092.5(COL4A4):c.963T>C (p.Phe321=)
|
|
|
|
NM_000092.5(COL4A4):c.969A>G (p.Gly323=)
|
rs2150777901
|
|
|
NM_000092.5(COL4A4):c.96T>A (p.Ser32=)
|
|
|
|
NM_000092.5(COL4A4):c.970T>C (p.Leu324=)
|
rs1199765858
|
|
|
NM_000092.5(COL4A4):c.975+11C>G
|
|
|
|
NM_000092.5(COL4A4):c.975+14A>C
|
|
|
|
NM_000092.5(COL4A4):c.975+17A>T
|
|
|
|
NM_000092.5(COL4A4):c.975+18T>C
|
|
|
|
NM_000092.5(COL4A4):c.975+1G>C
|
rs1553683192
|
|
|
NM_000092.5(COL4A4):c.975+2T>C
|
|
|
|
NM_000092.5(COL4A4):c.975+3A>G
|
|
|
|
NM_000092.5(COL4A4):c.975+7G>A
|
rs2150777666
|
|
|
NM_000092.5(COL4A4):c.975+7G>T
|
|
|
|
NM_000092.5(COL4A4):c.975+8T>C
|
|
|
|
NM_000092.5(COL4A4):c.976-11C>G
|
|
|
|
NM_000092.5(COL4A4):c.976-11C>T
|
|
|
|
NM_000092.5(COL4A4):c.976-12G>T
|
|
|
|
NM_000092.5(COL4A4):c.976-14G>C
|
|
|
|
NM_000092.5(COL4A4):c.976-19T>A
|
|
|
|
NM_000092.5(COL4A4):c.976-2A>G
|
|
|
|
NM_000092.5(COL4A4):c.976-36dup
|
rs59443812
|
|
|
NM_000092.5(COL4A4):c.976-3T>C
|
|
|
|
NM_000092.5(COL4A4):c.977G>A (p.Gly326Glu)
|
rs2150773718
|
|
|
NM_000092.5(COL4A4):c.981A>G (p.Glu327=)
|
|
|
|
NM_000092.5(COL4A4):c.985G>A (p.Gly329Arg)
|
|
|
|
NM_000092.5(COL4A4):c.994G>A (p.Gly332Arg)
|
|
|
|
NM_000092.5(COL4A4):c.994G>T (p.Gly332Ter)
|
rs2060521689
|
|
|
NM_000092.5(COL4A4):c.995G>T (p.Gly332Val)
|
rs2060521579
|
|
|
NM_000092.5(COL4A4):c.999dup (p.Pro334fs)
|
rs760803010
|
|
|
NM_000092.5(COL4A4):c.99A>T (p.Val33=)
|
rs886038231
|
|
|
NM_000092.5:c.1205_1369del
|
|
|