NM_000091.5(COL4A3):c.*2194A>C
|
rs7567291
|
0.99998
|
NM_000091.5(COL4A3):c.*2059C>G
|
rs4290648
|
0.93201
|
NM_000091.5(COL4A3):c.*1239C>G
|
rs10188531
|
0.93197
|
NM_000091.5(COL4A3):c.*893C>T
|
rs7587228
|
0.86904
|
NM_000091.5(COL4A3):c.485A>G (p.Glu162Gly)
|
rs6436669
|
0.77323
|
NM_000091.5(COL4A3):c.422T>C (p.Leu141Pro)
|
rs10178458
|
0.77314
|
NM_000091.5(COL4A3):c.*315A>C
|
rs2070735
|
0.77289
|
NM_000091.5(COL4A3):c.1195C>T (p.Leu399=)
|
rs10205042
|
0.72668
|
NM_000092.5(COL4A4):c.2545+178T>C
|
rs4536647
|
0.64779
|
NM_000092.5(COL4A4):c.2545+140T>C
|
rs4566357
|
0.64768
|
NM_000092.5(COL4A4):c.4548A>G (p.Val1516=)
|
rs2228555
|
0.57766
|
NM_000092.5(COL4A4):c.3011C>T (p.Pro1004Leu)
|
rs1800517
|
0.51043
|
NM_000092.5(COL4A4):c.1444C>T (p.Pro482Ser)
|
rs2229814
|
0.51006
|
NM_000092.5(COL4A4):c.*4322C>T
|
rs1054413
|
0.50051
|
NM_000092.5(COL4A4):c.4207T>C (p.Ser1403Pro)
|
rs3752895
|
0.49558
|
NM_000092.5(COL4A4):c.4523-8T>C
|
rs13419076
|
0.47936
|
NM_000092.5(COL4A4):c.4932C>T (p.Phe1644=)
|
rs2228557
|
0.47874
|
NM_000092.5(COL4A4):c.4080G>A (p.Pro1360=)
|
rs2228556
|
0.46753
|
NM_000092.5(COL4A4):c.3979G>A (p.Val1327Met)
|
rs2229813
|
0.46716
|
NM_000092.5(COL4A4):c.3817+9G>C
|
rs13423714
|
0.46646
|
NM_000092.5(COL4A4):c.3684G>A (p.Lys1228=)
|
rs2229812
|
0.46642
|
NM_000092.5(COL4A4):c.3594G>A (p.Gly1198=)
|
rs10203363
|
0.46565
|
NM_000092.5(COL4A4):c.*3187G>A
|
rs56324594
|
0.43204
|
NM_000091.5(COL4A3):c.1721C>T (p.Pro574Leu)
|
rs28381984
|
0.38447
|
NM_000091.5(COL4A3):c.*2742C>T
|
rs59257065
|
0.31211
|
NM_000091.5(COL4A3):c.*2652G>A
|
rs57817160
|
0.30825
|
NM_000091.5(COL4A3):c.144+12C>A
|
rs1882435
|
0.29027
|
NM_000091.5(COL4A3):c.*981C>T
|
rs1134745
|
0.20446
|
NM_000091.5(COL4A3):c.*2452T>C
|
rs4470338
|
0.20330
|
NM_000091.5(COL4A3):c.976G>T (p.Asp326Tyr)
|
rs55703767
|
0.15364
|
NM_000091.5(COL4A3):c.1576-60G>A
|
rs73993878
|
0.13711
|
NM_000092.5(COL4A4):c.-2C>T
|
rs2228558
|
0.10292
|
NM_000092.5(COL4A4):c.17T>C (p.Ile6Thr)
|
rs16823264
|
0.10047
|
NM_000091.5(COL4A3):c.*595A>T
|
rs56123646
|
0.09853
|
NM_000091.5(COL4A3):c.1352A>G (p.His451Arg)
|
rs11677877
|
0.08050
|
NM_000091.5(COL4A3):c.1452G>A (p.Gly484=)
|
rs34019152
|
0.07474
|
NM_000092.5(COL4A4):c.*4602C>G
|
rs1054415
|
0.07424
|
NM_000092.5(COL4A4):c.2384-5T>C
|
rs3769641
|
0.07065
|
NM_000091.5(COL4A3):c.1223G>A (p.Arg408His)
|
rs34505188
|
0.06909
|
NM_000091.5(COL4A3):c.1576-15T>G
|
rs56243460
|
0.06412
|
NM_000091.5(COL4A3):c.*286C>T
|
rs6436677
|
0.06341
|
NM_000091.5(COL4A3):c.*1663G>C
|
rs56030607
|
0.06118
|
NM_000091.5(COL4A3):c.3807C>A (p.Asp1269Glu)
|
rs57611801
|
0.06070
|
NM_000091.5(COL4A3):c.3419-14T>G
|
rs116133488
|
0.06066
|
NM_000091.5(COL4A3):c.*1681A>G
|
rs78758928
|
0.04750
|
NM_000092.5(COL4A4):c.1634G>C (p.Gly545Ala)
|
rs1800516
|
0.03182
|
NM_000091.5(COL4A3):c.*589C>T
|
rs55698424
|
0.02952
|
NM_000091.5(COL4A3):c.766-13G>A
|
rs77431913
|
0.02920
|
NM_000091.5(COL4A3):c.805G>A (p.Glu269Lys)
|
rs80109666
|
0.02845
|
NM_000092.5(COL4A4):c.948T>C (p.Tyr316=)
|
rs34509421
|
0.02777
|
NM_000092.5(COL4A4):c.2165-15T>G
|
rs60344965
|
0.02703
|
NM_000092.5(COL4A4):c.2276C>T (p.Pro759Leu)
|
rs36121515
|
0.02697
|
NM_000091.5(COL4A3):c.547-9A>C
|
rs55667591
|
0.02682
|
NM_000091.5(COL4A3):c.4041C>A (p.Asp1347Glu)
|
rs73996414
|
0.02579
|
NM_000092.5(COL4A4):c.4041A>G (p.Leu1347=)
|
rs16823077
|
0.02492
|
NM_000091.5(COL4A3):c.933+14T>C
|
rs55928538
|
0.02412
|
NM_000092.5(COL4A4):c.1781A>G (p.Glu594Gly)
|
rs35998949
|
0.02275
|
NM_000091.5(COL4A3):c.399G>A (p.Gly133=)
|
rs75683214
|
0.02133
|
NM_000091.5(COL4A3):c.2715C>T (p.Pro905=)
|
rs75519005
|
0.01995
|
NM_000092.5(COL4A4):c.2899A>G (p.Ile967Val)
|
rs80243096
|
0.01747
|
NM_000092.5(COL4A4):c.*581G>A
|
rs79659665
|
0.01689
|
NM_000092.5(COL4A4):c.3486A>G (p.Pro1162=)
|
rs2229815
|
0.01659
|
NM_000092.5(COL4A4):c.2008G>A (p.Val670Ile)
|
rs34236495
|
0.01622
|
NM_000092.5(COL4A4):c.2439A>T (p.Gly813=)
|
rs34835657
|
0.01612
|
NM_000092.5(COL4A4):c.1323T>C (p.Pro441=)
|
rs35830639
|
0.01576
|
NM_000092.5(COL4A4):c.4656G>A (p.Met1552Ile)
|
rs77104306
|
0.01346
|
NM_000092.5(COL4A4):c.2996G>A (p.Gly999Glu)
|
rs13027659
|
0.01279
|
NM_000092.5(COL4A4):c.1821G>A (p.Ala607=)
|
rs114684841
|
0.01262
|
NM_000092.5(COL4A4):c.3233C>T (p.Ala1078Val)
|
rs79143859
|
0.01259
|
NM_000092.5(COL4A4):c.2791G>A (p.Ala931Thr)
|
rs75875272
|
0.01243
|
NM_000092.5(COL4A4):c.2796G>A (p.Lys932=)
|
rs34591179
|
0.01236
|
NM_000092.5(COL4A4):c.-79C>T
|
rs55836847
|
0.01218
|
NM_000092.5(COL4A4):c.2545+143T>A
|
rs55915150
|
0.01197
|
NM_000092.5(COL4A4):c.2717-5A>T
|
rs1800519
|
0.01182
|
NM_000091.5(COL4A3):c.2501A>G (p.Lys834Arg)
|
rs56226424
|
0.01064
|
NM_000091.5(COL4A3):c.1505-11T>C
|
rs115757151
|
0.00959
|
NM_000091.5(COL4A3):c.*1360T>A
|
rs116377856
|
0.00953
|
NM_000091.5(COL4A3):c.73C>T (p.Pro25Ser)
|
rs139271412
|
0.00952
|
NM_000092.5(COL4A4):c.*3690A>G
|
rs149243282
|
0.00945
|
NM_000092.5(COL4A4):c.*841G>A
|
rs11556632
|
0.00854
|
NM_000092.5(COL4A4):c.*4164C>T
|
rs147109071
|
0.00850
|
NM_000091.5(COL4A3):c.88-4C>T
|
rs148393022
|
0.00744
|
NM_000091.5(COL4A3):c.*1869C>A
|
rs77842807
|
0.00730
|
NM_000091.5(COL4A3):c.*177A>G
|
rs139638980
|
0.00688
|
NM_000092.5(COL4A4):c.198A>G (p.Pro66=)
|
rs147947155
|
0.00681
|
NM_000092.5(COL4A4):c.666G>A (p.Pro222=)
|
rs111945121
|
0.00676
|
NM_000092.5(COL4A4):c.*472A>T
|
rs77268230
|
0.00670
|
NM_000092.5(COL4A4):c.*2311C>T
|
rs77079951
|
0.00666
|
NM_000092.5(COL4A4):c.*2239T>C
|
rs79443960
|
0.00664
|
NM_000092.5(COL4A4):c.3963T>C (p.Asp1321=)
|
rs116124529
|
0.00639
|
NM_000092.5(COL4A4):c.3232G>A (p.Ala1078Thr)
|
rs77277077
|
0.00631
|
NM_000091.5(COL4A3):c.71C>G (p.Ala24Gly)
|
rs184704920
|
0.00624
|
NM_000091.5(COL4A3):c.*969G>A
|
rs188150740
|
0.00620
|
NM_000092.5(COL4A4):c.3871C>G (p.Pro1291Ala)
|
rs34728338
|
0.00619
|
NM_000091.5(COL4A3):c.*2145A>C
|
rs115394347
|
0.00614
|
NM_000091.5(COL4A3):c.*2182C>T
|
rs114535536
|
0.00613
|
NM_000091.5(COL4A3):c.1398T>C (p.Asp466=)
|
rs145833114
|
0.00584
|
NM_000091.5(COL4A3):c.4484A>G (p.Gln1495Arg)
|
rs77964815
|
0.00573
|
NM_000092.5(COL4A4):c.-101-4A>G
|
rs147186690
|
0.00562
|
NM_000092.5(COL4A4):c.*718G>C
|
rs183147767
|
0.00543
|
NM_000091.5(COL4A3):c.4380T>C (p.Cys1460=)
|
rs114430490
|
0.00507
|
NM_000092.5(COL4A4):c.2907A>C (p.Ser969=)
|
rs116354015
|
0.00506
|
NM_000091.5(COL4A3):c.*811A>C
|
rs116568659
|
0.00504
|
NM_000092.5(COL4A4):c.4091-305C>T
|
rs145689259
|
0.00487
|
NM_000091.5(COL4A3):c.346C>A (p.Pro116Thr)
|
rs115324397
|
0.00485
|
NM_000092.5(COL4A4):c.1833T>C (p.Gly611=)
|
rs145806603
|
0.00479
|
NM_000092.5(COL4A4):c.*3636C>T
|
rs147995299
|
0.00469
|
NM_000092.5(COL4A4):c.*4194C>T
|
rs540904446
|
0.00467
|
NM_000092.5(COL4A4):c.-15T>C
|
rs17353916
|
0.00433
|
NM_000092.5(COL4A4):c.4082-8C>T
|
rs139571413
|
0.00420
|
NM_000092.5(COL4A4):c.*859A>C
|
rs187539474
|
0.00416
|
NM_000091.5(COL4A3):c.3325C>T (p.Pro1109Ser)
|
rs55816283
|
0.00412
|
NM_000091.5(COL4A3):c.3258G>A (p.Gly1086=)
|
rs147085074
|
0.00385
|
NM_000091.5(COL4A3):c.4707A>T (p.Pro1569=)
|
rs113401495
|
0.00364
|
NM_000091.5(COL4A3):c.4893C>T (p.Phe1631=)
|
rs183218622
|
0.00344
|
NM_000092.5(COL4A4):c.50A>G (p.Lys17Arg)
|
rs114969026
|
0.00341
|
NM_000091.5(COL4A3):c.3566-10T>C
|
rs114719458
|
0.00331
|
NM_000092.5(COL4A4):c.2630G>A (p.Arg877Gln)
|
rs150979437
|
0.00274
|
NM_000092.5(COL4A4):c.5016A>G (p.Glu1672=)
|
rs34761049
|
0.00264
|
NM_000091.5(COL4A3):c.2475G>C (p.Leu825Phe)
|
rs192027050
|
0.00262
|
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro)
|
rs200302125
|
0.00257
|
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_000091.5(COL4A3):c.3031C>T (p.Arg1011Cys)
|
rs73996408
|
0.00233
|
NM_000092.5(COL4A4):c.*1346T>C
|
rs55869005
|
0.00228
|
NM_000092.5(COL4A4):c.4217-15T>C
|
rs200926310
|
0.00228
|
NM_000091.5(COL4A3):c.-13G>C
|
rs770803750
|
0.00217
|
NM_000091.5(COL4A3):c.4665G>A (p.Ala1555=)
|
rs200858199
|
0.00210
|
NM_000092.5(COL4A4):c.4090+14T>C
|
rs147376687
|
0.00207
|
NM_000091.5(COL4A3):c.*647T>G
|
rs183552783
|
0.00206
|
NM_000092.5(COL4A4):c.2717-15C>A
|
rs143886681
|
0.00199
|
NM_000092.5(COL4A4):c.*3269A>G
|
rs185029960
|
0.00188
|
NM_000091.5(COL4A3):c.3566-9T>C
|
rs147886850
|
0.00184
|
NM_000092.5(COL4A4):c.*705T>C
|
rs150289717
|
0.00176
|
NM_000092.5(COL4A4):c.*2647C>T
|
rs139204655
|
0.00161
|
NM_000091.5(COL4A3):c.4445C>T (p.Ala1482Val)
|
rs199755408
|
0.00159
|
NM_000091.5(COL4A3):c.*1322T>A
|
rs115338903
|
0.00158
|
NM_000091.5(COL4A3):c.4756-13A>T
|
rs190701197
|
0.00135
|
NM_000091.5(COL4A3):c.112C>G (p.Gln38Glu)
|
rs201607115
|
0.00132
|
NM_000091.5(COL4A3):c.2886C>T (p.Phe962=)
|
rs77846212
|
0.00123
|
NM_000091.5(COL4A3):c.3939G>A (p.Gly1313=)
|
rs141552752
|
0.00121
|
NM_000092.5(COL4A4):c.*4004_*4005del
|
rs532937469
|
0.00119
|
NM_000092.4(COL4A4):c.-555G>A
|
rs79908084
|
0.00118
|
NM_000091.5(COL4A3):c.1483C>T (p.His495Tyr)
|
rs200510532
|
0.00110
|
NM_000092.5(COL4A4):c.1819G>A (p.Ala607Thr)
|
rs75539253
|
0.00109
|
NM_000091.5(COL4A3):c.1886C>T (p.Thr629Met)
|
rs139361545
|
0.00107
|
NM_000092.5(COL4A4):c.1776T>C (p.Ala592=)
|
rs188655353
|
0.00101
|
NM_000091.5(COL4A3):c.222G>T (p.Pro74=)
|
rs187950806
|
0.00096
|
NM_000092.5(COL4A4):c.*4173A>T
|
rs529259159
|
0.00086
|
NM_000092.5(COL4A4):c.195T>C (p.Gly65=)
|
rs201278620
|
0.00082
|
NM_000091.5(COL4A3):c.573T>C (p.Pro191=)
|
rs375503109
|
0.00078
|
NM_000092.5(COL4A4):c.71+10C>T
|
rs374140251
|
0.00077
|
NM_000091.5(COL4A3):c.3627G>A (p.Met1209Ile)
|
rs200562865
|
0.00076
|
NM_000092.5(COL4A4):c.2399C>G (p.Pro800Arg)
|
rs200714000
|
0.00076
|
NM_000092.5(COL4A4):c.736-10T>G
|
rs201175819
|
0.00073
|
NM_000091.5(COL4A3):c.*1764A>G
|
rs577379452
|
0.00071
|
NM_000091.5(COL4A3):c.274G>C (p.Val92Leu)
|
rs200873401
|
0.00070
|
NM_000092.5(COL4A4):c.*3410_*3411del
|
rs528949461
|
0.00068
|
NM_000092.5(COL4A4):c.*3639T>C
|
rs193239835
|
0.00063
|
NM_000091.5(COL4A3):c.2489-8G>A
|
rs201846272
|
0.00061
|
NM_000091.5(COL4A3):c.4494C>G (p.Thr1498=)
|
rs200454769
|
0.00058
|
NM_000092.5(COL4A4):c.*1465T>A
|
rs75940419
|
0.00058
|
NM_000092.5(COL4A4):c.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_000091.5(COL4A3):c.1516G>A (p.Ala506Thr)
|
rs188967260
|
0.00048
|
NM_000092.5(COL4A4):c.2241C>T (p.Pro747=)
|
rs374510402
|
0.00048
|
NM_000091.5(COL4A3):c.829-15C>T
|
rs201021733
|
0.00046
|
NM_000092.5(COL4A4):c.*3467C>G
|
rs752632630
|
0.00046
|
NM_000092.5(COL4A4):c.1353C>T (p.Gly451=)
|
rs199511948
|
0.00044
|
NM_000092.5(COL4A4):c.*1064G>C
|
rs560936685
|
0.00043
|
NM_000092.5(COL4A4):c.1205-9A>G
|
rs370706928
|
0.00043
|
NM_000091.5(COL4A3):c.-10C>T
|
rs781380101
|
0.00039
|
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys)
|
rs201697532
|
0.00039
|
NM_000092.5(COL4A4):c.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_000091.5(COL4A3):c.1505-12G>A
|
rs114658110
|
0.00036
|
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser)
|
rs190598500
|
0.00035
|
NM_000092.5(COL4A4):c.2877C>T (p.Pro959=)
|
rs79470996
|
0.00035
|
NM_000091.5(COL4A3):c.*2228T>C
|
rs367785196
|
0.00034
|
NM_000092.5(COL4A4):c.-134C>G
|
rs530247030
|
0.00033
|
NM_000091.5(COL4A3):c.3270A>C (p.Pro1090=)
|
rs201989155
|
0.00032
|
NM_000092.5(COL4A4):c.*1464A>T
|
rs573508041
|
0.00032
|
NM_000092.5(COL4A4):c.3108T>C (p.Gly1036=)
|
rs201962241
|
0.00030
|
NM_000092.5(COL4A4):c.541G>T (p.Ala181Ser)
|
rs200707549
|
0.00030
|
NM_000092.5(COL4A4):c.*3397T>C
|
rs531406341
|
0.00027
|
NM_000092.5(COL4A4):c.*3876G>A
|
rs184473858
|
0.00026
|
NM_000092.5(COL4A4):c.1435G>C (p.Gly479Arg)
|
rs202210475
|
0.00026
|
NM_000091.5(COL4A3):c.1353C>T (p.His451=)
|
rs189364374
|
0.00025
|
NM_000091.5(COL4A3):c.3182G>A (p.Gly1061Asp)
|
rs202078295
|
0.00025
|
NM_000091.5(COL4A3):c.221C>T (p.Pro74Leu)
|
rs373975901
|
0.00024
|
NM_000091.5(COL4A3):c.4510T>C (p.Phe1504Leu)
|
rs201671013
|
0.00024
|
NM_000092.5(COL4A4):c.*2069T>C
|
rs886055710
|
0.00023
|
NM_000092.5(COL4A4):c.*569C>A
|
rs772402371
|
0.00023
|
NM_000091.5(COL4A3):c.4523A>G (p.Asn1508Ser)
|
rs200512461
|
0.00022
|
NM_000091.5(COL4A3):c.3945A>G (p.Pro1315=)
|
rs189574905
|
0.00021
|
NM_000092.5(COL4A4):c.2144C>T (p.Ala715Val)
|
rs76636743
|
0.00021
|
NM_000092.5(COL4A4):c.*3948C>T
|
rs886055703
|
0.00020
|
NM_000092.5(COL4A4):c.193-9C>G
|
rs190570269
|
0.00020
|
NM_000092.5(COL4A4):c.929G>A (p.Arg310Gln)
|
rs373741172
|
0.00020
|
NM_000091.5(COL4A3):c.-26G>T
|
rs747049729
|
0.00019
|
NM_000092.5(COL4A4):c.*4534T>C
|
rs767613572
|
0.00019
|
NM_000092.5(COL4A4):c.4195A>T (p.Met1399Leu)
|
rs149117087
|
0.00019
|
NM_000092.5(COL4A4):c.4715C>T (p.Pro1572Leu)
|
rs121912863
|
0.00019
|
NM_000092.5(COL4A4):c.3885T>C (p.Gly1295=)
|
rs199839937
|
0.00018
|
NM_000092.5(COL4A4):c.4857T>C (p.Pro1619=)
|
rs184776061
|
0.00017
|
NM_000091.5(COL4A3):c.1362A>T (p.Pro454=)
|
rs377373374
|
0.00016
|
NM_000091.5(COL4A3):c.2083G>A (p.Gly695Arg)
|
rs200287952
|
0.00016
|
NM_000092.5(COL4A4):c.1055C>T (p.Pro352Leu)
|
rs371717486
|
0.00016
|
NM_000092.5(COL4A4):c.4924C>T (p.His1642Tyr)
|
rs200450557
|
0.00016
|
NM_000092.5(COL4A4):c.2430C>G (p.Gly810=)
|
rs769363556
|
0.00015
|
NM_000091.5(COL4A3):c.*406G>A
|
rs759265728
|
0.00014
|
NM_000091.5(COL4A3):c.3751+7G>A
|
rs750554079
|
0.00014
|
NM_000092.5(COL4A4):c.*1171C>T
|
rs545148830
|
0.00014
|
NM_000092.5(COL4A4):c.*3159C>A
|
rs559222889
|
0.00014
|
NM_000092.5(COL4A4):c.*883C>G
|
rs952959654
|
0.00014
|
NM_000092.5(COL4A4):c.4982T>A (p.Phe1661Tyr)
|
rs374119389
|
0.00014
|
NM_000091.5(COL4A3):c.688-8G>T
|
rs748843785
|
0.00013
|
NM_000092.5(COL4A4):c.2161C>T (p.Pro721Ser)
|
rs200759521
|
0.00012
|
NM_000091.5(COL4A3):c.1790C>T (p.Pro597Leu)
|
rs781163705
|
0.00011
|
NM_000091.5(COL4A3):c.3419-8T>G
|
rs754483986
|
0.00011
|
NM_000091.5(COL4A3):c.3644G>A (p.Arg1215Gln)
|
rs200443942
|
0.00011
|
NM_000091.5(COL4A3):c.3882+10G>A
|
rs78980950
|
0.00011
|
NM_000091.5(COL4A3):c.685C>T (p.Arg229Trp)
|
rs759074046
|
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.771C>T (p.Thr257=)
|
rs372387985
|
0.00011
|
NM_033380.3(COL4A5):c.4072C>A (p.Leu1358Ile)
|
rs143020337
|
0.00011
|
NM_000091.5(COL4A3):c.2887G>A (p.Ala963Thr)
|
rs200801946
|
0.00010
|
NM_000092.5(COL4A4):c.*2422T>C
|
rs892108516
|
0.00010
|
NM_000092.5(COL4A4):c.*2945T>C
|
rs886055707
|
0.00010
|
NM_000092.5(COL4A4):c.3705A>G (p.Pro1235=)
|
rs752638078
|
0.00010
|
NM_000091.5(COL4A3):c.3196C>T (p.Pro1066Ser)
|
rs377003650
|
0.00009
|
NM_000091.5(COL4A3):c.494T>C (p.Ile165Thr)
|
rs144036466
|
0.00009
|
NM_000092.4(COL4A4):c.-641G>A
|
rs1003987615
|
0.00009
|
NM_000092.5(COL4A4):c.15C>T (p.His5=)
|
rs199504524
|
0.00009
|
NM_000092.5(COL4A4):c.1664C>T (p.Ala555Val)
|
rs371066387
|
0.00009
|
NM_000092.5(COL4A4):c.2171G>A (p.Arg724His)
|
rs200146486
|
0.00009
|
NM_000092.5(COL4A4):c.3995C>T (p.Pro1332Leu)
|
rs200860702
|
0.00009
|
NM_000091.5(COL4A3):c.3755C>T (p.Ala1252Val)
|
rs761179248
|
0.00008
|
NM_000091.5(COL4A3):c.63G>A (p.Leu21=)
|
rs1036829250
|
0.00008
|
NM_000092.5(COL4A4):c.2751C>T (p.Pro917=)
|
rs544472944
|
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.4678C>T (p.Arg1560Cys)
|
rs200973262
|
0.00008
|
NM_000091.5(COL4A3):c.*1639G>A
|
rs950432432
|
0.00007
|
NM_000091.5(COL4A3):c.1802C>T (p.Pro601Leu)
|
rs369567469
|
0.00007
|
NM_000091.5(COL4A3):c.3476G>A (p.Arg1159His)
|
rs145948549
|
0.00007
|
NM_000092.5(COL4A4):c.*4347C>T
|
rs190602131
|
0.00007
|
NM_000092.5(COL4A4):c.2985C>T (p.Pro995=)
|
rs79261248
|
0.00007
|
NM_000091.5(COL4A3):c.*1000C>T
|
rs770149608
|
0.00006
|
NM_000091.5(COL4A3):c.*1645del
|
rs886055747
|
0.00006
|
NM_000091.5(COL4A3):c.*2180C>T
|
rs886055749
|
0.00006
|
NM_000091.5(COL4A3):c.1256C>A (p.Ser419Tyr)
|
rs201031986
|
0.00006
|
NM_000091.5(COL4A3):c.1576-6C>T
|
rs202210023
|
0.00006
|
NM_000091.5(COL4A3):c.1912C>T (p.Pro638Ser)
|
rs767174856
|
0.00006
|
NM_000091.5(COL4A3):c.3228G>A (p.Pro1076=)
|
rs200125890
|
0.00006
|
NM_000091.5(COL4A3):c.3565+9T>G
|
rs750406964
|
0.00006
|
NM_000091.5(COL4A3):c.4253-14T>C
|
rs747386514
|
0.00006
|
NM_000091.5(COL4A3):c.4649T>G (p.Val1550Gly)
|
rs200655479
|
0.00006
|
NM_000091.5(COL4A3):c.513C>T (p.Gly171=)
|
rs199514043
|
0.00006
|
NM_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.2079C>T (p.Pro693=)
|
rs200010601
|
0.00006
|
NM_000092.5(COL4A4):c.2170C>T (p.Arg724Cys)
|
rs754398956
|
0.00006
|
NM_000092.5(COL4A4):c.4291C>T (p.Arg1431Cys)
|
rs536570392
|
0.00006
|
NM_000092.5(COL4A4):c.4945A>G (p.Ser1649Gly)
|
rs192411379
|
0.00006
|
NM_000092.5(COL4A4):c.778G>A (p.Val260Ile)
|
rs775358063
|
0.00006
|
NM_000092.5(COL4A4):c.8C>T (p.Ser3Phe)
|
rs201403066
|
0.00006
|
NM_000091.5(COL4A3):c.1216C>T (p.Arg406Ter)
|
rs371334239
|
0.00005
|
NM_000091.5(COL4A3):c.1637C>T (p.Pro546Leu)
|
rs772037798
|
0.00005
|
NM_000091.5(COL4A3):c.1928-4T>C
|
rs376327706
|
0.00005
|
NM_000091.5(COL4A3):c.4482G>A (p.Leu1494=)
|
rs181952966
|
0.00005
|
NM_000092.4(COL4A4):c.-341G>A
|
rs886055731
|
0.00005
|
NM_000092.5(COL4A4):c.*3938A>G
|
rs192161029
|
0.00005
|
NM_000092.5(COL4A4):c.1334G>C (p.Gly445Ala)
|
rs548019779
|
0.00005
|
NM_000092.5(COL4A4):c.1630C>T (p.His544Tyr)
|
rs745815071
|
0.00005
|
NM_000092.5(COL4A4):c.2570C>T (p.Pro857Leu)
|
rs533602128
|
0.00005
|
NM_000092.5(COL4A4):c.2929C>G (p.Pro977Ala)
|
rs769300622
|
0.00005
|
NM_000092.5(COL4A4):c.4216+11C>T
|
rs117468095
|
0.00005
|
NM_000092.5(COL4A4):c.4421C>T (p.Thr1474Met)
|
rs201615111
|
0.00005
|
NM_000092.5(COL4A4):c.928C>T (p.Arg310Trp)
|
rs200817090
|
0.00005
|
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp)
|
rs104886142
|
0.00005
|
NM_000091.4(COL4A3):c.-134T>C
|
rs886055734
|
0.00004
|
NM_000091.5(COL4A3):c.*1612A>G
|
rs760687020
|
0.00004
|
NM_000091.5(COL4A3):c.*2565T>C
|
rs1261742464
|
0.00004
|
NM_000091.5(COL4A3):c.*261A>T
|
rs1019244359
|
0.00004
|
NM_000091.5(COL4A3):c.1917C>T (p.Pro639=)
|
rs369320502
|
0.00004
|
NM_000091.5(COL4A3):c.2125+13T>C
|
rs777353565
|
0.00004
|
NM_000091.5(COL4A3):c.2282G>A (p.Arg761Lys)
|
rs747356302
|
0.00004
|
NM_000091.5(COL4A3):c.3032G>A (p.Arg1011His)
|
rs772164474
|
0.00004
|
NM_000091.5(COL4A3):c.4677C>T (p.Ala1559=)
|
rs764663555
|
0.00004
|
NM_000091.5(COL4A3):c.516C>T (p.Asp172=)
|
rs759455097
|
0.00004
|
NM_000091.5(COL4A3):c.717A>G (p.Gly239=)
|
rs377503376
|
0.00004
|
NM_000091.5(COL4A3):c.870T>C (p.Pro290=)
|
rs373130348
|
0.00004
|
NM_000091.5(COL4A3):c.934-6C>A
|
rs369438839
|
0.00004
|
NM_000092.5(COL4A4):c.*1073del
|
rs149522920
|
0.00004
|
NM_000092.5(COL4A4):c.*128G>A
|
rs886055722
|
0.00004
|
NM_000092.5(COL4A4):c.*1423T>C
|
rs886055714
|
0.00004
|
NM_000092.5(COL4A4):c.*1960C>A
|
rs1035280131
|
0.00004
|
NM_000092.5(COL4A4):c.*2033G>A
|
rs886055711
|
0.00004
|
NM_000092.5(COL4A4):c.*888G>A
|
rs372146953
|
0.00004
|
NM_000092.5(COL4A4):c.*931C>T
|
rs903690028
|
0.00004
|
NM_000092.5(COL4A4):c.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.2320G>C (p.Gly774Arg)
|
rs569681869
|
0.00004
|
NM_000092.5(COL4A4):c.2516C>T (p.Pro839Leu)
|
rs199562472
|
0.00004
|
NM_000092.5(COL4A4):c.2717-3C>T
|
rs191634780
|
0.00004
|
NM_000092.5(COL4A4):c.2986G>A (p.Gly996Arg)
|
rs370474706
|
0.00004
|
NM_000092.5(COL4A4):c.3644C>T (p.Pro1215Leu)
|
rs189847470
|
0.00004
|
NM_000092.5(COL4A4):c.4247G>A (p.Arg1416Lys)
|
rs370734150
|
0.00004
|
NM_000092.5(COL4A4):c.4394G>A (p.Gly1465Asp)
|
rs533297350
|
0.00004
|
NM_000092.5(COL4A4):c.4640C>T (p.Ala1547Val)
|
rs780916516
|
0.00004
|
NM_000092.5(COL4A4):c.4782C>T (p.Ser1594=)
|
rs200799557
|
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_000091.5(COL4A3):c.*287G>A
|
rs573135458
|
0.00003
|
NM_000091.5(COL4A3):c.*660T>C
|
rs557009121
|
0.00003
|
NM_000091.5(COL4A3):c.1437C>T (p.Cys479=)
|
rs748691382
|
0.00003
|
NM_000091.5(COL4A3):c.1798G>A (p.Asp600Asn)
|
rs781224368
|
0.00003
|
NM_000091.5(COL4A3):c.3588C>G (p.Ala1196=)
|
rs767337248
|
0.00003
|
NM_000091.5(COL4A3):c.4059T>C (p.Ile1353=)
|
rs374672854
|
0.00003
|
NM_000091.5(COL4A3):c.4441C>T (p.Arg1481Ter)
|
rs121912824
|
0.00003
|
NM_000091.5(COL4A3):c.4678G>A (p.Val1560Ile)
|
rs574102153
|
0.00003
|
NM_000091.5(COL4A3):c.4700T>G (p.Ile1567Ser)
|
rs371452712
|
0.00003
|
NM_000091.5(COL4A3):c.4825C>T (p.Arg1609Ter)
|
rs756231749
|
0.00003
|
NM_000091.5(COL4A3):c.668T>C (p.Ile223Thr)
|
rs772407219
|
0.00003
|
NM_000091.5(COL4A3):c.756T>A (p.Asp252Glu)
|
rs1412919917
|
0.00003
|
NM_000092.5(COL4A4):c.*1026G>A
|
rs927436000
|
0.00003
|
NM_000092.5(COL4A4):c.*1242C>T
|
rs886055716
|
0.00003
|
NM_000092.5(COL4A4):c.*2677T>G
|
rs892742003
|
0.00003
|
NM_000092.5(COL4A4):c.*3299A>G
|
rs886055706
|
0.00003
|
NM_000092.5(COL4A4):c.*4393G>T
|
rs886055699
|
0.00003
|
NM_000092.5(COL4A4):c.1202C>T (p.Ala401Val)
|
rs199581317
|
0.00003
|
NM_000092.5(COL4A4):c.1471C>T (p.Leu491Phe)
|
rs777805216
|
0.00003
|
NM_000092.5(COL4A4):c.1488T>C (p.Pro496=)
|
rs1405969453
|
0.00003
|
NM_000092.5(COL4A4):c.2586T>C (p.Pro862=)
|
rs761238651
|
0.00003
|
NM_000092.5(COL4A4):c.3150+14G>T
|
rs201486440
|
0.00003
|
NM_000092.5(COL4A4):c.3450T>A (p.Pro1150=)
|
rs751859861
|
0.00003
|
NM_000092.5(COL4A4):c.4198A>G (p.Arg1400Gly)
|
rs749483911
|
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_000091.5(COL4A3):c.-16T>C
|
rs886055736
|
0.00002
|
NM_000091.5(COL4A3):c.1295C>T (p.Pro432Leu)
|
rs534253913
|
0.00002
|
NM_000091.5(COL4A3):c.206A>C (p.Glu69Ala)
|
rs755344973
|
0.00002
|
NM_000091.5(COL4A3):c.2747-4T>C
|
rs772016854
|
0.00002
|
NM_000091.5(COL4A3):c.2919C>T (p.Gly973=)
|
rs758181560
|
0.00002
|
NM_000091.5(COL4A3):c.2954G>T (p.Gly985Val)
|
rs121912827
|
0.00002
|
NM_000091.5(COL4A3):c.391G>T (p.Glu131Ter)
|
rs1346138010
|
0.00002
|
NM_000091.5(COL4A3):c.468+9T>C
|
rs754471166
|
0.00002
|
NM_000091.5(COL4A3):c.4803del (p.Gly1602fs)
|
rs760846085
|
0.00002
|
NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg)
|
rs772708743
|
0.00002
|
NM_000091.5(COL4A3):c.964T>C (p.Leu322=)
|
rs1213929853
|
0.00002
|
NM_000092.5(COL4A4):c.1893A>G (p.Gly631=)
|
rs370886041
|
0.00002
|
NM_000092.5(COL4A4):c.1990G>A (p.Asp664Asn)
|
rs201181725
|
0.00002
|
NM_000092.5(COL4A4):c.2752G>A (p.Gly918Arg)
|
rs372606845
|
0.00002
|
NM_000092.5(COL4A4):c.3112A>G (p.Arg1038Gly)
|
rs770930167
|
0.00002
|
NM_000092.5(COL4A4):c.3355A>G (p.Arg1119Gly)
|
rs778458961
|
0.00002
|
NM_000092.5(COL4A4):c.3622C>G (p.Leu1208Val)
|
rs780290586
|
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.4862G>A (p.Ser1621Asn)
|
rs886055723
|
0.00002
|
NM_000092.5(COL4A4):c.861A>G (p.Pro287=)
|
rs747613100
|
0.00002
|
NM_016239.4(MYO15A):c.7925C>T (p.Pro2642Leu)
|
rs562914140
|
0.00002
|
NM_000091.5(COL4A3):c.*1238T>C
|
rs1423033002
|
0.00001
|
NM_000091.5(COL4A3):c.*1340T>C
|
rs929078167
|
0.00001
|
NM_000091.5(COL4A3):c.*1634G>C
|
rs376587950
|
0.00001
|
NM_000091.5(COL4A3):c.*2308T>C
|
rs886055751
|
0.00001
|
NM_000091.5(COL4A3):c.*2795T>C
|
rs906294246
|
0.00001
|
NM_000091.5(COL4A3):c.*387A>C
|
rs971677230
|
0.00001
|
NM_000091.5(COL4A3):c.*501T>C
|
rs1210086779
|
0.00001
|
NM_000091.5(COL4A3):c.1367_1369del (p.Tyr456del)
|
rs762420854
|
0.00001
|
NM_000091.5(COL4A3):c.1423C>G (p.Leu475Val)
|
rs886055738
|
0.00001
|
NM_000091.5(COL4A3):c.1468G>C (p.Gly490Arg)
|
rs1256505387
|
0.00001
|
NM_000091.5(COL4A3):c.159T>C (p.Phe53=)
|
rs1217941846
|
0.00001
|
NM_000091.5(COL4A3):c.1674C>T (p.Leu558=)
|
rs762241502
|
0.00001
|
NM_000091.5(COL4A3):c.1923A>C (p.Glu641Asp)
|
rs752819997
|
0.00001
|
NM_000091.5(COL4A3):c.1927G>A (p.Gly643Ser)
|
rs778034451
|
0.00001
|
NM_000091.5(COL4A3):c.1944C>T (p.Leu648=)
|
rs199554662
|
0.00001
|
NM_000091.5(COL4A3):c.2371C>T (p.Arg791Ter)
|
rs1060499654
|
0.00001
|
NM_000091.5(COL4A3):c.2656+12T>A
|
rs748254625
|
0.00001
|
NM_000091.5(COL4A3):c.272G>A (p.Gly91Asp)
|
rs1414411811
|
0.00001
|
NM_000091.5(COL4A3):c.2747-1G>C
|
rs1196996393
|
0.00001
|
NM_000091.5(COL4A3):c.2750G>A (p.Ser917Asn)
|
rs773119622
|
0.00001
|
NM_000091.5(COL4A3):c.281G>C (p.Gly94Ala)
|
rs780287240
|
0.00001
|
NM_000091.5(COL4A3):c.2827G>A (p.Gly943Arg)
|
rs1265432530
|
0.00001
|
NM_000091.5(COL4A3):c.315T>C (p.Pro105=)
|
rs371460434
|
0.00001
|
NM_000091.5(COL4A3):c.3210+8G>A
|
rs545181831
|
0.00001
|
NM_000091.5(COL4A3):c.3254T>G (p.Met1085Arg)
|
rs769395979
|
0.00001
|
NM_000091.5(COL4A3):c.3472G>C (p.Gly1158Arg)
|
rs914878176
|
0.00001
|
NM_000091.5(COL4A3):c.3499G>A (p.Gly1167Arg)
|
rs267606745
|
0.00001
|
NM_000091.5(COL4A3):c.3516G>A (p.Thr1172=)
|
rs758035504
|
0.00001
|
NM_000091.5(COL4A3):c.361G>A (p.Gly121Ser)
|
rs778886174
|
0.00001
|
NM_000091.5(COL4A3):c.3751+1G>A
|
rs781566652
|
0.00001
|
NM_000091.5(COL4A3):c.3764C>A (p.Pro1255His)
|
rs759579368
|
0.00001
|
NM_000091.5(COL4A3):c.388-15T>C
|
rs762513527
|
0.00001
|
NM_000091.5(COL4A3):c.4100G>C (p.Gly1367Ala)
|
rs886055742
|
0.00001
|
NM_000091.5(COL4A3):c.4153+10T>C
|
rs865866667
|
0.00001
|
NM_000091.5(COL4A3):c.4329G>A (p.Thr1443=)
|
rs778174094
|
0.00001
|
NM_000091.5(COL4A3):c.4348C>T (p.Arg1450Ter)
|
rs1189607438
|
0.00001
|
NM_000091.5(COL4A3):c.441G>A (p.Pro147=)
|
rs373559251
|
0.00001
|
NM_000091.5(COL4A3):c.443G>T (p.Gly148Val)
|
rs775373641
|
0.00001
|
NM_000091.5(COL4A3):c.4450G>A (p.Gly1484Arg)
|
rs976882559
|
0.00001
|
NM_000091.5(COL4A3):c.45G>A (p.Pro15=)
|
rs542100614
|
0.00001
|
NM_000091.5(COL4A3):c.4643G>A (p.Cys1548Tyr)
|
rs745466617
|
0.00001
|
NM_000091.5(COL4A3):c.4663G>A (p.Ala1555Thr)
|
rs774089446
|
0.00001
|
NM_000091.5(COL4A3):c.4996A>G (p.Met1666Val)
|
rs759583948
|
0.00001
|
NM_000091.5(COL4A3):c.504T>C (p.Asp168=)
|
rs748974369
|
0.00001
|
NM_000091.5(COL4A3):c.527C>G (p.Pro176Arg)
|
rs759869958
|
0.00001
|
NM_000091.5(COL4A3):c.828+9T>C
|
rs2069991819
|
0.00001
|
NM_000092.4(COL4A4):c.-408G>A
|
rs554839865
|
0.00001
|
NM_000092.5(COL4A4):c.*1173T>C
|
rs1360525515
|
0.00001
|
NM_000092.5(COL4A4):c.*1930T>C
|
rs1289208914
|
0.00001
|
NM_000092.5(COL4A4):c.*222C>G
|
rs1305583691
|
0.00001
|
NM_000092.5(COL4A4):c.*22C>A
|
rs562265530
|
0.00001
|
NM_000092.5(COL4A4):c.*4363G>C
|
rs1233339249
|
0.00001
|
NM_000092.5(COL4A4):c.*4369C>T
|
rs886055700
|
0.00001
|
NM_000092.5(COL4A4):c.*4498T>C
|
rs1481974918
|
0.00001
|
NM_000092.5(COL4A4):c.*4583A>G
|
rs886055698
|
0.00001
|
NM_000092.5(COL4A4):c.*4599T>C
|
rs1280441510
|
0.00001
|
NM_000092.5(COL4A4):c.*833C>T
|
rs886055720
|
0.00001
|
NM_000092.5(COL4A4):c.1203A>G (p.Ala401=)
|
rs778832152
|
0.00001
|
NM_000092.5(COL4A4):c.1369+15A>C
|
rs1216718864
|
0.00001
|
NM_000092.5(COL4A4):c.1395C>T (p.Pro465=)
|
rs771419084
|
0.00001
|
NM_000092.5(COL4A4):c.1585C>T (p.Pro529Ser)
|
rs2059732638
|
0.00001
|
NM_000092.5(COL4A4):c.192G>A (p.Arg64=)
|
rs748152418
|
0.00001
|
NM_000092.5(COL4A4):c.1963C>T (p.Pro655Ser)
|
rs886055726
|
0.00001
|
NM_000092.5(COL4A4):c.1988-3C>T
|
rs752688851
|
0.00001
|
NM_000092.5(COL4A4):c.2007C>T (p.Asn669=)
|
rs754769010
|
0.00001
|
NM_000092.5(COL4A4):c.2045A>G (p.Asp682Gly)
|
rs142093416
|
0.00001
|
NM_000092.5(COL4A4):c.2092G>A (p.Gly698Arg)
|
rs1241404192
|
0.00001
|
NM_000092.5(COL4A4):c.2123G>T (p.Arg708Ile)
|
rs759828394
|
0.00001
|
NM_000092.5(COL4A4):c.228T>G (p.Ile76Met)
|
rs1393470640
|
0.00001
|
NM_000092.5(COL4A4):c.2294G>T (p.Gly765Val)
|
rs747881404
|
0.00001
|
NM_000092.5(COL4A4):c.2378C>T (p.Ala793Val)
|
rs377676207
|
0.00001
|
NM_000092.5(COL4A4):c.2383+3A>G
|
rs1351961379
|
0.00001
|
NM_000092.5(COL4A4):c.2392G>A (p.Gly798Ser)
|
rs760803228
|
0.00001
|
NM_000092.5(COL4A4):c.2511G>A (p.Gly837=)
|
rs767522216
|
0.00001
|
NM_000092.5(COL4A4):c.2617G>A (p.Gly873Arg)
|
rs929684384
|
0.00001
|
NM_000092.5(COL4A4):c.3014G>A (p.Gly1005Glu)
|
rs769138971
|
0.00001
|
NM_000092.5(COL4A4):c.3351T>C (p.Pro1117=)
|
rs747784952
|
0.00001
|
NM_000092.5(COL4A4):c.3434G>A (p.Gly1145Glu)
|
rs1260916310
|
0.00001
|
NM_000092.5(COL4A4):c.3495G>A (p.Pro1165=)
|
rs774011820
|
0.00001
|
NM_000092.5(COL4A4):c.3513C>T (p.Ser1171=)
|
rs762812157
|
0.00001
|
NM_000092.5(COL4A4):c.3577+14C>T
|
rs370328730
|
0.00001
|
NM_000092.5(COL4A4):c.3706+13A>G
|
rs754923656
|
0.00001
|
NM_000092.5(COL4A4):c.3771G>A (p.Pro1257=)
|
rs1384523881
|
0.00001
|
NM_000092.5(COL4A4):c.4081+9C>G
|
rs201688381
|
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.4129C>T (p.Arg1377Ter)
|
rs121912861
|
0.00001
|
NM_000092.5(COL4A4):c.4413C>G (p.His1471Gln)
|
rs1478610555
|
0.00001
|
NM_000092.5(COL4A4):c.4779G>A (p.Arg1593=)
|
rs751561029
|
0.00001
|
NM_000092.5(COL4A4):c.4829A>G (p.Gln1610Arg)
|
rs369714481
|
0.00001
|
NM_000092.5(COL4A4):c.489+1G>A
|
rs1040287646
|
0.00001
|
NM_000092.5(COL4A4):c.4947C>T (p.Ser1649=)
|
rs918428666
|
0.00001
|
NM_000092.5(COL4A4):c.507G>C (p.Lys169Asn)
|
rs545808060
|
0.00001
|
NM_000092.5(COL4A4):c.559-2A>G
|
rs766243664
|
0.00001
|
NM_000092.5(COL4A4):c.595-7T>A
|
rs765195717
|
0.00001
|
NM_000092.5(COL4A4):c.620C>T (p.Ala207Val)
|
rs369698515
|
0.00001
|
NM_000092.5(COL4A4):c.661C>T (p.Pro221Ser)
|
rs1261138757
|
0.00001
|
NM_000092.5(COL4A4):c.734C>T (p.Pro245Leu)
|
rs770011392
|
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.975+1G>A
|
rs1553683192
|
0.00001
|
NM_001146079.2(CLDN14):c.49G>A (p.Gly17Ser)
|
rs1270823192
|
0.00001
|
NM_033380.3(COL4A5):c.2329C>T (p.Arg777Cys)
|
rs779033931
|
0.00001
|
NM_000091.4(COL4A3):c.-146G>C
|
rs886055733
|
|
NM_000091.5(COL4A3):c.*1032G>A
|
rs886055744
|
|
NM_000091.5(COL4A3):c.*1069_*1070del
|
rs11297279
|
|
NM_000091.5(COL4A3):c.*1069_*1070dup
|
rs11297279
|
|
NM_000091.5(COL4A3):c.*1070del
|
rs11297279
|
|
NM_000091.5(COL4A3):c.*1070dup
|
rs11297279
|
|
NM_000091.5(COL4A3):c.*1071G>A
|
rs866036167
|
|
NM_000091.5(COL4A3):c.*1165G>A
|
rs28554165
|
|
NM_000091.5(COL4A3):c.*1739C>T
|
rs750139996
|
|
NM_000091.5(COL4A3):c.*1918T>C
|
rs767668198
|
|
NM_000091.5(COL4A3):c.*2048C>G
|
rs886055748
|
|
NM_000091.5(COL4A3):c.*2087A>T
|
rs2073823186
|
|
NM_000091.5(COL4A3):c.*2266A>G
|
rs2073829100
|
|
NM_000091.5(COL4A3):c.*2272T>C
|
rs886055750
|
|
NM_000091.5(COL4A3):c.*2834ATA[1]
|
rs137947510
|
|
NM_000091.5(COL4A3):c.*2836A>G
|
rs1030825188
|
|
NM_000091.5(COL4A3):c.*2853A>C
|
rs768580153
|
|
NM_000091.5(COL4A3):c.*454G>T
|
rs2073771672
|
|
NM_000091.5(COL4A3):c.*459T>C
|
rs1041353391
|
|
NM_000091.5(COL4A3):c.*656T>A
|
rs538761832
|
|
NM_000091.5(COL4A3):c.-81G>C
|
rs886055735
|
|
NM_000091.5(COL4A3):c.1025G>A (p.Gly342Asp)
|
|
|
NM_000091.5(COL4A3):c.1031C>T (p.Thr344Ile)
|
rs2070429834
|
|
NM_000091.5(COL4A3):c.1114+2T>C
|
rs956551930
|
|
NM_000091.5(COL4A3):c.1127C>T (p.Pro376Leu)
|
rs760049264
|
|
NM_000091.5(COL4A3):c.1150+4T>A
|
rs200061201
|
|
NM_000091.5(COL4A3):c.1167C>G (p.Gly389=)
|
rs2070734491
|
|
NM_000091.5(COL4A3):c.1184G>A (p.Gly395Glu)
|
rs1131691738
|
|
NM_000091.5(COL4A3):c.1238C>A (p.Ala413Asp)
|
rs2070738434
|
|
NM_000091.5(COL4A3):c.127G>C (p.Gly43Arg)
|
rs13424243
|
|
NM_000091.5(COL4A3):c.1309C>T (p.Pro437Ser)
|
rs763403545
|
|
NM_000091.5(COL4A3):c.1368T>C (p.Tyr456=)
|
rs766591906
|
|
NM_000091.5(COL4A3):c.1381G>C (p.Gly461Arg)
|
rs1135401954
|
|
NM_000091.5(COL4A3):c.1508G>A (p.Arg503Lys)
|
rs1434266764
|
|
NM_000091.5(COL4A3):c.1540G>A (p.Gly514Arg)
|
rs2071142257
|
|
NM_000091.5(COL4A3):c.1727T>C (p.Val576Ala)
|
rs2071196765
|
|
NM_000091.5(COL4A3):c.1849G>A (p.Gly617Ser)
|
rs2071335952
|
|
NM_000091.5(COL4A3):c.1863A>G (p.Gln621=)
|
rs771390525
|
|
NM_000091.5(COL4A3):c.1887G>A (p.Thr629=)
|
rs201109911
|
|
NM_000091.5(COL4A3):c.190G>C (p.Gly64Arg)
|
rs917643323
|
|
NM_000091.5(COL4A3):c.1929C>A (p.Gly643=)
|
rs1574764067
|
|
NM_000091.5(COL4A3):c.1937dup (p.Glu647fs)
|
rs758444182
|
|
NM_000091.5(COL4A3):c.2021-9G>C
|
rs773021303
|
|
NM_000091.5(COL4A3):c.2127A>C (p.Gly709=)
|
rs1238746236
|
|
NM_000091.5(COL4A3):c.2184G>A (p.Glu728=)
|
rs779837475
|
|
NM_000091.5(COL4A3):c.2196T>C (p.Pro732=)
|
rs1251724413
|
|
NM_000091.5(COL4A3):c.222G>A (p.Pro74=)
|
rs187950806
|
|
NM_000091.5(COL4A3):c.2381C>T (p.Pro794Leu)
|
rs1559895213
|
|
NM_000091.5(COL4A3):c.2747-11C>A
|
rs886055739
|
|
NM_000091.5(COL4A3):c.2768_2778del (p.Val923fs)
|
rs766306957
|
|
NM_000091.5(COL4A3):c.2881+6G>T
|
rs886055740
|
|
NM_000091.5(COL4A3):c.3026del (p.Gly1009fs)
|
rs755109848
|
|
NM_000091.5(COL4A3):c.3116G>A (p.Gly1039Glu)
|
rs2072647561
|
|
NM_000091.5(COL4A3):c.3200C>T (p.Pro1067Leu)
|
rs55849096
|
|
NM_000091.5(COL4A3):c.3211-13G>A
|
rs200555661
|
|
NM_000091.5(COL4A3):c.345del (p.Pro116fs)
|
rs749390823
|
|
NM_000091.5(COL4A3):c.3518-15G>C
|
rs2072979600
|
|
NM_000091.5(COL4A3):c.3546_3548dup (p.Gly1183dup)
|
rs1175052474
|
|
NM_000091.5(COL4A3):c.36C>T (p.Leu12=)
|
rs1189095338
|
|
NM_000091.5(COL4A3):c.3735C>G (p.Gly1245=)
|
rs2073099504
|
|
NM_000091.5(COL4A3):c.3825C>T (p.His1275=)
|
rs143380907
|
|
NM_000091.5(COL4A3):c.3857G>T (p.Gly1286Val)
|
rs2073148750
|
|
NM_000091.5(COL4A3):c.386A>C (p.Lys129Thr)
|
rs886055737
|
|
NM_000091.5(COL4A3):c.3956-8_3956-5del
|
rs779522146
|
|
NM_000091.5(COL4A3):c.3995C>G (p.Pro1332Arg)
|
rs757747350
|
|
NM_000091.5(COL4A3):c.4027+11G>T
|
rs191002419
|
|
NM_000091.5(COL4A3):c.4045G>A (p.Gly1349Ser)
|
rs2073401281
|
|
NM_000091.5(COL4A3):c.40_63del (p.Leu14_Leu21del)
|
rs876657397
|
|
NM_000091.5(COL4A3):c.4255C>A (p.Pro1419Thr)
|
rs2073566607
|
|
NM_000091.5(COL4A3):c.4347_4353del (p.Arg1450fs)
|
rs748026887
|
|
NM_000091.5(COL4A3):c.4462G>C (p.Gly1488Arg)
|
rs1574840156
|
|
NM_000091.5(COL4A3):c.4501C>A (p.Pro1501Thr)
|
rs1195144676
|
|
NM_000091.5(COL4A3):c.4546C>T (p.Arg1516Ter)
|
rs759873621
|
|
NM_000091.5(COL4A3):c.4664C>T (p.Ala1555Val)
|
rs369575989
|
|
NM_000091.5(COL4A3):c.4691C>T (p.Thr1564Ile)
|
rs886055743
|
|
NM_000091.5(COL4A3):c.4712C>T (p.Pro1571Leu)
|
rs2073645172
|
|
NM_000091.5(COL4A3):c.4765G>A (p.Ala1589Thr)
|
rs2073712176
|
|
NM_000091.5(COL4A3):c.4781C>G (p.Thr1594Ser)
|
rs760284809
|
|
NM_000091.5(COL4A3):c.4825C>A (p.Arg1609=)
|
rs756231749
|
|
NM_000091.5(COL4A3):c.4882T>G (p.Ser1628Ala)
|
rs773905198
|
|
NM_000091.5(COL4A3):c.4972dup (p.Ile1658fs)
|
rs2073752422
|
|
NM_000091.5(COL4A3):c.5010_*14del (p.His1670_Ter1671delinsXaa)
|
rs765655100
|
|
NM_000091.5(COL4A3):c.522dup (p.Leu175fs)
|
rs761358728
|
|
NM_000091.5(COL4A3):c.567T>A (p.Gly189=)
|
rs2125924539
|
|
NM_000091.5(COL4A3):c.568T>A (p.Phe190Ile)
|
rs371173786
|
|
NM_000091.5(COL4A3):c.610-11G>A
|
rs566045388
|
|
NM_000091.5(COL4A3):c.686G>T (p.Arg229Leu)
|
rs188942711
|
|
NM_000091.5(COL4A3):c.713del (p.Pro238fs)
|
rs988439345
|
|
NM_000091.5(COL4A3):c.865G>A (p.Ala289Thr)
|
rs2070037501
|
|
NM_000091.5(COL4A3):c.87+7G>T
|
rs1358691399
|
|
NM_000091.5(COL4A3):c.922C>T (p.Pro308Ser)
|
rs765318949
|
|
NM_000091.5(COL4A3):c.92_95dup (p.Lys34fs)
|
rs1385106410
|
|
NM_000092.4(COL4A4):c.-301C>T
|
rs2065101251
|
|
NM_000092.4(COL4A4):c.-527G>A
|
rs886055732
|
|
NM_000092.5(COL4A4):c.*1190G>A
|
rs924155482
|
|
NM_000092.5(COL4A4):c.*1292A>T
|
rs1962017400
|
|
NM_000092.5(COL4A4):c.*1349A>C
|
rs886055715
|
|
NM_000092.5(COL4A4):c.*1397A>G
|
rs1961988842
|
|
NM_000092.5(COL4A4):c.*1687T>G
|
rs538453112
|
|
NM_000092.5(COL4A4):c.*1914A>T
|
rs886055712
|
|
NM_000092.5(COL4A4):c.*2021A>G
|
rs1961867304
|
|
NM_000092.5(COL4A4):c.*2119_*2120dup
|
rs56983325
|
|
NM_000092.5(COL4A4):c.*2120del
|
rs56983325
|
|
NM_000092.5(COL4A4):c.*2120dup
|
rs56983325
|
|
NM_000092.5(COL4A4):c.*2259G>A
|
rs886055708
|
|
NM_000092.5(COL4A4):c.*2259G>C
|
rs886055708
|
|
NM_000092.5(COL4A4):c.*244C>A
|
rs56196639
|
|
NM_000092.5(COL4A4):c.*244C>T
|
rs56196639
|
|
NM_000092.5(COL4A4):c.*2487C>A
|
rs538994353
|
|
NM_000092.5(COL4A4):c.*2732C>T
|
rs1043998157
|
|
NM_000092.5(COL4A4):c.*2807T>G
|
rs1961667960
|
|
NM_000092.5(COL4A4):c.*2849G>A
|
rs531063842
|
|
NM_000092.5(COL4A4):c.*2855C>T
|
rs141795776
|
|
NM_000092.5(COL4A4):c.*3156A>G
|
rs748537109
|
|
NM_000092.5(COL4A4):c.*318T>G
|
rs1575685645
|
|
NM_000092.5(COL4A4):c.*321A>G
|
rs886055721
|
|
NM_000092.5(COL4A4):c.*3354C>A
|
rs1961538066
|
|
NM_000092.5(COL4A4):c.*345T>A
|
rs1962275393
|
|
NM_000092.5(COL4A4):c.*3461A>G
|
rs886055705
|
|
NM_000092.5(COL4A4):c.*3791A>C
|
rs1961459136
|
|
NM_000092.5(COL4A4):c.*3940T>C
|
rs886055704
|
|
NM_000092.5(COL4A4):c.*4041A>G
|
rs1016355173
|
|
NM_000092.5(COL4A4):c.*4102dup
|
rs370056635
|
|
NM_000092.5(COL4A4):c.*4106C>A
|
rs886055702
|
|
NM_000092.5(COL4A4):c.*4135A>T
|
rs886055701
|
|
NM_000092.5(COL4A4):c.*4385A>G
|
rs574071910
|
|
NM_000092.5(COL4A4):c.*4491_*4494dup
|
rs151077907
|
|
NM_000092.5(COL4A4):c.*48G>A
|
rs767600758
|
|
NM_000092.5(COL4A4):c.*491A>G
|
rs149466995
|
|
NM_000092.5(COL4A4):c.*566del
|
rs11314253
|
|
NM_000092.5(COL4A4):c.*747T>C
|
rs752977716
|
|
NM_000092.5(COL4A4):c.*755T>C
|
rs191394048
|
|
NM_000092.5(COL4A4):c.*774dup
|
rs59918285
|
|
NM_000092.5(COL4A4):c.*863C>G
|
rs886055719
|
|
NM_000092.5(COL4A4):c.*864C>G
|
rs886055718
|
|
NM_000092.5(COL4A4):c.*888G>T
|
rs372146953
|
|
NM_000092.5(COL4A4):c.-102+10C>G
|
rs867845285
|
|
NM_000092.5(COL4A4):c.-102+8G>T
|
rs544582281
|
|
NM_000092.5(COL4A4):c.-177G>A
|
rs886055730
|
|
NM_000092.5(COL4A4):c.1030-2A>C
|
rs1553681714
|
|
NM_000092.5(COL4A4):c.1181G>T (p.Gly394Val)
|
|
|
NM_000092.5(COL4A4):c.1240G>T (p.Gly414Cys)
|
rs373150214
|
|
NM_000092.5(COL4A4):c.1323_1340del (p.Pro444_Leu449del)
|
rs773081522
|
|
NM_000092.5(COL4A4):c.1369+1G>A
|
rs1553676230
|
|
NM_000092.5(COL4A4):c.1464T>G (p.Asn488Lys)
|
rs2059739807
|
|
NM_000092.5(COL4A4):c.1522C>T (p.Pro508Ser)
|
rs2059736984
|
|
NM_000092.5(COL4A4):c.1578del (p.Gly527fs)
|
rs2059733367
|
|
NM_000092.5(COL4A4):c.1719T>C (p.Pro573=)
|
rs533957132
|
|
NM_000092.5(COL4A4):c.1767T>A (p.Asp589Glu)
|
rs886055727
|
|
NM_000092.5(COL4A4):c.1914A>G (p.Pro638=)
|
rs759226801
|
|
NM_000092.5(COL4A4):c.192+1G>A
|
|
|
NM_000092.5(COL4A4):c.2057G>A (p.Gly686Asp)
|
rs1156323870
|
|
NM_000092.5(COL4A4):c.2159C>T (p.Pro720Leu)
|
rs749186337
|
|
NM_000092.5(COL4A4):c.2164+8A>T
|
rs745682054
|
|
NM_000092.5(COL4A4):c.2165-13del
|
rs140965334
|
|
NM_000092.5(COL4A4):c.2219dup (p.Val741fs)
|
rs141127013
|
|
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.2367A>T (p.Gly789=)
|
rs56247709
|
|
NM_000092.5(COL4A4):c.2611C>T (p.Leu871Phe)
|
rs910142548
|
|
NM_000092.5(COL4A4):c.2638del (p.Ala880fs)
|
rs778043831
|
|
NM_000092.5(COL4A4):c.2922T>C (p.Pro974=)
|
rs762735176
|
|
NM_000092.5(COL4A4):c.3018A>T (p.Arg1006Ser)
|
rs531161419
|
|
NM_000092.5(COL4A4):c.3196G>C (p.Gly1066Arg)
|
rs1333536476
|
|
NM_000092.5(COL4A4):c.3374C>T (p.Ser1125Phe)
|
rs766044583
|
|
NM_000092.5(COL4A4):c.3488G>T (p.Gly1163Val)
|
rs1559480099
|
|
NM_000092.5(COL4A4):c.354A>G (p.Pro118=)
|
rs1432438341
|
|
NM_000092.5(COL4A4):c.3696A>G (p.Pro1232=)
|
rs1968564790
|
|
NM_000092.5(COL4A4):c.3770C>T (p.Pro1257Leu)
|
rs755884665
|
|
NM_000092.5(COL4A4):c.3933C>G (p.Tyr1311Ter)
|
rs1433065763
|
|
NM_000092.5(COL4A4):c.3974-12dup
|
rs200823182
|
|
NM_000092.5(COL4A4):c.3974-14T>C
|
rs1427442513
|
|
NM_000092.5(COL4A4):c.4095A>G (p.Glu1365=)
|
rs1966135663
|
|
NM_000092.5(COL4A4):c.436G>A (p.Gly146Ser)
|
rs886055729
|
|
NM_000092.5(COL4A4):c.446G>T (p.Gly149Val)
|
rs374815903
|
|
NM_000092.5(COL4A4):c.4470del (p.Tyr1491fs)
|
rs1963392922
|
|
NM_000092.5(COL4A4):c.4594C>A (p.His1532Asn)
|
rs1962633158
|
|
NM_000092.5(COL4A4):c.4760C>G (p.Pro1587Arg)
|
rs190148408
|
|
NM_000092.5(COL4A4):c.4760C>T (p.Pro1587Leu)
|
rs190148408
|
|
NM_000092.5(COL4A4):c.4782C>G (p.Ser1594Arg)
|
rs200799557
|
|
NM_000092.5(COL4A4):c.4809+7dup
|
rs759784585
|
|
NM_000092.5(COL4A4):c.555dup (p.Gln186fs)
|
rs2061393958
|
|
NM_000092.5(COL4A4):c.592C>T (p.Pro198Ser)
|
rs1039244540
|
|
NM_000092.5(COL4A4):c.645G>A (p.Glu215=)
|
rs2061038127
|
|
NM_000092.5(COL4A4):c.680G>A (p.Arg227His)
|
rs368248078
|
|
NM_000092.5(COL4A4):c.736-4del
|
rs750699545
|
|
NM_000092.5(COL4A4):c.766C>T (p.Pro256Ser)
|
rs773445256
|
|
NM_000092.5(COL4A4):c.805A>G (p.Lys269Glu)
|
rs2150805428
|
|
NM_000092.5(COL4A4):c.816+12A>T
|
rs886055728
|
|
NM_000092.5(COL4A4):c.817-6T>G
|
rs2060623868
|
|
NM_000092.5(COL4A4):c.81_86del (p.27IL[1])
|
rs771943519
|
|
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.847C>A (p.Leu283Met)
|
rs2060622187
|
|
NM_000092.5(COL4A4):c.870G>A (p.Lys290=)
|
rs2060620860
|
|
NM_000092.5(COL4A4):c.930+5G>A
|
|
|
NM_000092.5(COL4A4):c.931-18dup
|
rs746509796
|
|
NM_033380.3(COL4A5):c.1033-3A>G
|
rs2066339277
|
|
NM_033380.3(COL4A5):c.1147G>C (p.Gly383Arg)
|
rs1569492161
|
|
NM_033380.3(COL4A5):c.1166-1G>A
|
rs1569492951
|
|
NM_033380.3(COL4A5):c.1226G>A (p.Gly409Asp)
|
rs104886101
|
|
NM_033380.3(COL4A5):c.1295G>A (p.Gly432Glu)
|
rs2066428351
|
|
NM_033380.3(COL4A5):c.1498G>C (p.Gly500Arg)
|
rs281874670
|
|
NM_033380.3(COL4A5):c.1525G>C (p.Gly509Arg)
|
rs754223700
|
|
NM_033380.3(COL4A5):c.1532del (p.Pro511fs)
|
rs2066528020
|
|
NM_033380.3(COL4A5):c.1584_1587+6del
|
|
|
NM_033380.3(COL4A5):c.1643G>A (p.Gly548Asp)
|
rs281874673
|
|
NM_033380.3(COL4A5):c.1763_1779+3del
|
rs2066542728
|
|
NM_033380.3(COL4A5):c.1807G>A (p.Gly603Ser)
|
rs1603290681
|
|
NM_033380.3(COL4A5):c.1922G>A (p.Gly641Glu)
|
rs1569494378
|
|
NM_033380.3(COL4A5):c.2042-2A>C
|
rs2066636714
|
|
NM_033380.3(COL4A5):c.2129G>A (p.Gly710Glu)
|
rs2066640120
|
|
NM_033380.3(COL4A5):c.2201del (p.Gly734fs)
|
rs2066663117
|
|
NM_033380.3(COL4A5):c.2464G>A (p.Gly822Arg)
|
rs104886184
|
|
NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg)
|
rs104886189
|
|
NM_033380.3(COL4A5):c.2633G>A (p.Gly878Glu)
|
rs104886199
|
|
NM_033380.3(COL4A5):c.2678G>C (p.Gly893Ala)
|
rs397515496
|
|
NM_033380.3(COL4A5):c.2686G>A (p.Gly896Ser)
|
rs1556420349
|
|
NM_033380.3(COL4A5):c.276+2dup
|
rs2065934135
|
|
NM_033380.3(COL4A5):c.3088G>A (p.Gly1030Ser)
|
rs104886210
|
|
NM_033380.3(COL4A5):c.3310G>C (p.Gly1104Arg)
|
rs1569504072
|
|
NM_033380.3(COL4A5):c.3374-1G>A
|
rs2068058963
|
|
NM_033380.3(COL4A5):c.3553G>C (p.Gly1185Arg)
|
rs1353480777
|
|
NM_033380.3(COL4A5):c.3556C>T (p.Gln1186Ter)
|
rs1381117009
|
|
NM_033380.3(COL4A5):c.3632G>A (p.Gly1211Glu)
|
rs104886247
|
|
NM_033380.3(COL4A5):c.3703G>T (p.Gly1235Cys)
|
rs2147959392
|
|
NM_033380.3(COL4A5):c.3773G>T (p.Gly1258Val)
|
|
|
NM_033380.3(COL4A5):c.3883C>T (p.Gln1295Ter)
|
rs2068330799
|
|
NM_033380.3(COL4A5):c.3898G>A (p.Gly1300Ser)
|
rs2147975020
|
|
NM_033380.3(COL4A5):c.3942+2T>C
|
rs2068333361
|
|
NM_033380.3(COL4A5):c.4291_4297delinsCT (p.Asp1431fs)
|
rs2068539903
|
|
NM_033380.3(COL4A5):c.434C>T (p.Pro145Leu)
|
rs2066063898
|
|
NM_033380.3(COL4A5):c.4352G>A (p.Gly1451Glu)
|
|
|
NM_033380.3(COL4A5):c.4376dup (p.Gly1460fs)
|
rs2068571470
|
|
NM_033380.3(COL4A5):c.438+1_438+3dup
|
rs2066064057
|
|
NM_033380.3(COL4A5):c.4455_4465del (p.Thr1486fs)
|
|
|
NM_033380.3(COL4A5):c.4705C>T (p.Arg1569Ter)
|
rs104886286
|
|
NM_033380.3(COL4A5):c.4769C>A (p.Pro1590His)
|
rs281874747
|
|
NM_033380.3(COL4A5):c.4809T>G (p.Tyr1603Ter)
|
rs104886299
|
|
NM_033380.3(COL4A5):c.4938C>G (p.Tyr1646Ter)
|
rs2068717619
|
|
NM_033380.3(COL4A5):c.4964T>G (p.Leu1655Arg)
|
rs104886303
|
|
NM_033380.3(COL4A5):c.5038C>T (p.Arg1680Ter)
|
rs281874753
|
|
NM_033380.3(COL4A5):c.5074T>A (p.Ter1692Lys)
|
rs2068734296
|
|
NM_033380.3(COL4A5):c.687+1G>A
|
rs104886440
|
|
NM_033380.3(COL4A5):c.689G>T (p.Gly230Val)
|
rs281874763
|
|
NM_033380.3(COL4A5):c.757delinsCT (p.Val253fs)
|
rs2066189282
|
|
NM_033380.3(COL4A5):c.796C>T (p.Arg266Ter)
|
rs104886071
|
|
NM_033380.3(COL4A5):c.884G>A (p.Gly295Asp)
|
rs104886079
|
|
NM_033380.3(COL4A5):c.936+2T>C
|
rs2147777495
|
|