NM_000092.5(COL4A4):c.595-111T>C
|
rs6436654
|
0.71196
|
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.2545+51A>G
|
rs7567789
|
0.64631
|
NM_000092.5(COL4A4):c.1029+72G>A
|
rs16823202
|
0.64560
|
NM_000092.5(COL4A4):c.658-39T>C
|
rs12475686
|
0.61721
|
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.3214+159A>G
|
rs2272202
|
0.51677
|
NM_000092.5(COL4A4):c.3215-66C>T
|
rs2272200
|
0.51657
|
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.4217-24C>T
|
rs10188770
|
0.48798
|
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.3973+34T>C
|
rs1917127
|
0.46756
|
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.3578-84T>C
|
rs10179756
|
0.46595
|
NM_000092.5(COL4A4):c.3594G>A (p.Gly1198=)
|
rs10203363
|
0.46565
|
NM_000092.5(COL4A4):c.694-72G>T
|
rs55741079
|
0.44490
|
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.657+67A>G
|
rs58363082
|
0.21126
|
NM_000092.5(COL4A4):c.657+62G>A
|
rs59938187
|
0.20743
|
NM_000092.5(COL4A4):c.2164+78G>A
|
rs11898094
|
0.17434
|
NM_000092.5(COL4A4):c.1987+91T>C
|
rs7597336
|
0.16109
|
NM_000092.5(COL4A4):c.-2C>T
|
rs2228558
|
0.10292
|
NM_000092.5(COL4A4):c.17T>C (p.Ile6Thr)
|
rs16823264
|
0.10047
|
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.1634G>C (p.Gly545Ala)
|
rs1800516
|
0.03182
|
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_000092.5(COL4A4):c.4041A>G (p.Leu1347=)
|
rs16823077
|
0.02492
|
NM_000092.5(COL4A4):c.1781A>G (p.Glu594Gly)
|
rs35998949
|
0.02275
|
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_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_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_000092.5(COL4A4):c.3871C>G (p.Pro1291Ala)
|
rs34728338
|
0.00619
|
NM_000092.5(COL4A4):c.-101-4A>G
|
rs147186690
|
0.00562
|
NM_000092.5(COL4A4):c.*718G>C
|
rs183147767
|
0.00543
|
NM_000092.5(COL4A4):c.2907A>C (p.Ser969=)
|
rs116354015
|
0.00506
|
NM_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.*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_000092.5(COL4A4):c.50A>G (p.Lys17Arg)
|
rs114969026
|
0.00341
|
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_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.*3269A>G
|
rs185029960
|
0.00188
|
NM_000092.5(COL4A4):c.*705T>C
|
rs150289717
|
0.00176
|
NM_000092.5(COL4A4):c.*2647C>T
|
rs139204655
|
0.00161
|
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.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.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.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.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.*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.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.2346A>G (p.Lys782=)
|
rs199838682
|
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.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.595-18G>A
|
rs372991861
|
0.00010
|
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_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.3044G>A (p.Gly1015Glu)
|
rs764323652
|
0.00008
|
NM_000092.5(COL4A4):c.4678C>T (p.Arg1560Cys)
|
rs200973262
|
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.*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.4291C>T (p.Arg1431Cys)
|
rs536570392
|
0.00006
|
NM_000092.5(COL4A4):c.4945A>G (p.Ser1649Gly)
|
rs192411379
|
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_000092.4(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.4525C>T (p.Leu1509=)
|
rs200849651
|
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.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.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.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.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.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.*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.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.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.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.665C>T (p.Pro222Leu)
|
rs773533313
|
0.00003
|
NM_000092.5(COL4A4):c.72-18G>A
|
rs770916599
|
0.00003
|
NM_000092.5(COL4A4):c.-1G>A
|
rs780102207
|
0.00002
|
NM_000092.5(COL4A4):c.1223G>A (p.Gly408Glu)
|
rs1026613471
|
0.00002
|
NM_000092.5(COL4A4):c.1396G>A (p.Gly466Arg)
|
rs201859109
|
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.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.3355A>G (p.Arg1119Gly)
|
rs778458961
|
0.00002
|
NM_000092.5(COL4A4):c.3622C>G (p.Leu1208Val)
|
rs780290586
|
0.00002
|
NM_000092.5(COL4A4):c.3859C>G (p.Leu1287Val)
|
rs571869797
|
0.00002
|
NM_000092.5(COL4A4):c.4091-330T>C
|
rs774439386
|
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.4862G>A (p.Ser1621Asn)
|
rs886055723
|
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.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.1118G>A (p.Gly373Glu)
|
rs755649235
|
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.133G>T (p.Gly45Cys)
|
rs753016038
|
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.1405G>T (p.Gly469Ter)
|
rs926605269
|
0.00001
|
NM_000092.5(COL4A4):c.1424G>C (p.Gly475Ala)
|
rs1559594442
|
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.164G>T (p.Cys55Phe)
|
rs570529667
|
0.00001
|
NM_000092.5(COL4A4):c.1820C>T (p.Ala607Val)
|
rs373916569
|
0.00001
|
NM_000092.5(COL4A4):c.1856G>A (p.Gly619Asp)
|
rs374340855
|
0.00001
|
NM_000092.5(COL4A4):c.192G>A (p.Arg64=)
|
rs748152418
|
0.00001
|
NM_000092.5(COL4A4):c.193G>A (p.Gly65Ser)
|
rs776036994
|
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.2312G>A (p.Gly771Glu)
|
rs781660254
|
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.2383+9G>C
|
rs746435134
|
0.00001
|
NM_000092.5(COL4A4):c.2392G>A (p.Gly798Ser)
|
rs760803228
|
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.2549C>T (p.Ala850Val)
|
rs758199486
|
0.00001
|
NM_000092.5(COL4A4):c.2617G>A (p.Gly873Arg)
|
rs929684384
|
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.2969-10A>G
|
rs1576130915
|
0.00001
|
NM_000092.5(COL4A4):c.3014G>A (p.Gly1005Glu)
|
rs769138971
|
0.00001
|
NM_000092.5(COL4A4):c.3307G>A (p.Gly1103Arg)
|
rs749299357
|
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.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.3771G>A (p.Pro1257=)
|
rs1384523881
|
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.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.4091G>T (p.Gly1364Val)
|
rs770364064
|
0.00001
|
NM_000092.5(COL4A4):c.410G>A (p.Gly137Asp)
|
rs377511303
|
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.4217G>C (p.Gly1406Ala)
|
rs1364711591
|
0.00001
|
NM_000092.5(COL4A4):c.4333+3A>G
|
rs1455105815
|
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.4522G>A (p.Gly1508Ser)
|
rs1003748020
|
0.00001
|
NM_000092.5(COL4A4):c.4623C>G (p.Tyr1541Ter)
|
rs891854419
|
0.00001
|
NM_000092.5(COL4A4):c.4673C>T (p.Ala1558Val)
|
rs760044982
|
0.00001
|
NM_000092.5(COL4A4):c.475C>T (p.Pro159Ser)
|
rs760873029
|
0.00001
|
NM_000092.5(COL4A4):c.4766C>T (p.Pro1589Leu)
|
rs768974023
|
0.00001
|
NM_000092.5(COL4A4):c.4779G>A (p.Arg1593=)
|
rs751561029
|
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.4858G>A (p.Gly1620Ser)
|
rs1271416659
|
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.5015A>C (p.Glu1672Ala)
|
rs1354826968
|
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.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.595-7T>A
|
rs765195717
|
0.00001
|
NM_000092.5(COL4A4):c.614G>T (p.Gly205Val)
|
rs2061040474
|
0.00001
|
NM_000092.5(COL4A4):c.620C>T (p.Ala207Val)
|
rs369698515
|
0.00001
|
NM_000092.5(COL4A4):c.64G>A (p.Gly22Ser)
|
rs779795137
|
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.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.754G>A (p.Gly252Ser)
|
rs2060673883
|
0.00001
|
NM_000092.5(COL4A4):c.755G>T (p.Gly252Val)
|
rs760795817
|
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
|
GRCh37/hg19 2q36.3(chr2:227942610-227945265)
|
|
|
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.1321_1369+3del
|
rs1553676221
|
|
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.-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.1027A>T (p.Lys343Ter)
|
rs2060519888
|
|
NM_000092.5(COL4A4):c.1029+2T>C
|
rs1553682895
|
|
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.1033_1050del (p.Asp345_Gly350del)
|
rs990679247
|
|
NM_000092.5(COL4A4):c.1045C>T (p.Arg349Ter)
|
rs534522842
|
|
NM_000092.5(COL4A4):c.1073T>A (p.Leu358Ter)
|
|
|
NM_000092.5(COL4A4):c.1098A>G (p.Lys366=)
|
rs1305609812
|
|
NM_000092.5(COL4A4):c.1099+1G>T
|
rs1372782305
|
|
NM_000092.5(COL4A4):c.114+1G>C
|
rs1553712110
|
|
NM_000092.5(COL4A4):c.1153G>T (p.Gly385Ter)
|
|
|
NM_000092.5(COL4A4):c.1176C>T (p.Leu392=)
|
rs759536932
|
|
NM_000092.5(COL4A4):c.1181G>T (p.Gly394Val)
|
|
|
NM_000092.5(COL4A4):c.1192_1195dup (p.Ala399fs)
|
rs2060340440
|
|
NM_000092.5(COL4A4):c.1204+5G>A
|
rs748967270
|
|
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.1240G>T (p.Gly414Cys)
|
rs373150214
|
|
NM_000092.5(COL4A4):c.1268del (p.Gly423fs)
|
|
|
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.1369+1G>A
|
rs1553676230
|
|
NM_000092.5(COL4A4):c.1370-17C>A
|
rs369350196
|
|
NM_000092.5(COL4A4):c.1379G>A (p.Cys460Tyr)
|
rs753659852
|
|
NM_000092.5(COL4A4):c.1389del (p.Asn464fs)
|
rs1576428862
|
|
NM_000092.5(COL4A4):c.139del (p.Cys47fs)
|
|
|
NM_000092.5(COL4A4):c.1400del (p.Pro467fs)
|
|
|
NM_000092.5(COL4A4):c.1402C>T (p.Gln468Ter)
|
rs2059821994
|
|
NM_000092.5(COL4A4):c.1424G>T (p.Gly475Val)
|
rs1559594442
|
|
NM_000092.5(COL4A4):c.1444_1446delinsTC (p.Pro482fs)
|
|
|
NM_000092.5(COL4A4):c.1459+16dup
|
rs763434195
|
|
NM_000092.5(COL4A4):c.1459+1G>A
|
|
|
NM_000092.5(COL4A4):c.1459+5G>A
|
rs2150615599
|
|
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.1522C>T (p.Pro508Ser)
|
rs2059736984
|
|
NM_000092.5(COL4A4):c.1531C>T (p.Gln511Ter)
|
rs2150595867
|
|
NM_000092.5(COL4A4):c.1543G>T (p.Gly515Ter)
|
|
|
NM_000092.5(COL4A4):c.1544G>T (p.Gly515Val)
|
rs2150595484
|
|
NM_000092.5(COL4A4):c.1554del (p.Leu519fs)
|
|
|
NM_000092.5(COL4A4):c.1578del (p.Gly527fs)
|
rs2059733367
|
|
NM_000092.5(COL4A4):c.1580del (p.Gly527fs)
|
rs2059732983
|
|
NM_000092.5(COL4A4):c.1598G>A (p.Gly533Asp)
|
rs1553669704
|
|
NM_000092.5(COL4A4):c.1652G>A (p.Gly551Asp)
|
rs2059360185
|
|
NM_000092.5(COL4A4):c.165C>A (p.Cys55Ter)
|
rs768245333
|
|
NM_000092.5(COL4A4):c.1666A>G (p.Lys556Glu)
|
|
|
NM_000092.5(COL4A4):c.1685C>A (p.Ser562Ter)
|
rs2059358378
|
|
NM_000092.5(COL4A4):c.1696+1G>A
|
rs954701825
|
|
NM_000092.5(COL4A4):c.1696+1G>T
|
rs954701825
|
|
NM_000092.5(COL4A4):c.1697-1G>A
|
rs1559569975
|
|
NM_000092.5(COL4A4):c.1715G>C (p.Gly572Ala)
|
rs1446915781
|
|
NM_000092.5(COL4A4):c.1719T>C (p.Pro573=)
|
rs533957132
|
|
NM_000092.5(COL4A4):c.171T>A (p.Cys57Ter)
|
|
|
NM_000092.5(COL4A4):c.1748del (p.Pro583fs)
|
|
|
NM_000092.5(COL4A4):c.1767T>A (p.Asp589Glu)
|
rs886055727
|
|
NM_000092.5(COL4A4):c.1785dup (p.Gly596fs)
|
rs2150505385
|
|
NM_000092.5(COL4A4):c.1792C>T (p.Pro598Ser)
|
rs1411689737
|
|
NM_000092.5(COL4A4):c.1809_1813del (p.Asp603fs)
|
|
|
NM_000092.5(COL4A4):c.1828G>A (p.Gly610Ser)
|
rs1559563525
|
|
NM_000092.5(COL4A4):c.1850dup (p.Leu618fs)
|
|
|
NM_000092.5(COL4A4):c.1865dup (p.Lys623fs)
|
|
|
NM_000092.5(COL4A4):c.186dup (p.Ser63fs)
|
|
|
NM_000092.5(COL4A4):c.1889del (p.Pro630fs)
|
rs757688183
|
|
NM_000092.5(COL4A4):c.1907G>A (p.Gly636Asp)
|
rs1559563141
|
|
NM_000092.5(COL4A4):c.1914A>G (p.Pro638=)
|
rs759226801
|
|
NM_000092.5(COL4A4):c.192+1G>A
|
|
|
NM_000092.5(COL4A4):c.192+1_192+2delinsTGATGTA
|
rs1576812577
|
|
NM_000092.5(COL4A4):c.1935_1952del (p.Pro647_Val652del)
|
rs1553658892
|
|
NM_000092.5(COL4A4):c.1952G>T (p.Gly651Val)
|
rs2059121113
|
|
NM_000092.5(COL4A4):c.1967A>G (p.Asp656Gly)
|
rs1387537859
|
|
NM_000092.5(COL4A4):c.1973T>A (p.Leu658Ter)
|
rs2059119564
|
|
NM_000092.5(COL4A4):c.1987+15dup
|
rs754189803
|
|
NM_000092.5(COL4A4):c.204_212del (p.67PGP[1])
|
rs764884579
|
|
NM_000092.5(COL4A4):c.2057G>A (p.Gly686Asp)
|
rs1156323870
|
|
NM_000092.5(COL4A4):c.2084G>A (p.Gly695Asp)
|
rs1553644402
|
|
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.2152_2154dup (p.Pro718dup)
|
rs1553644306
|
|
NM_000092.5(COL4A4):c.2155G>C (p.Gly719Arg)
|
|
|
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+15_2164+16insTTTG
|
|
|
NM_000092.5(COL4A4):c.2164+19_2164+20insTTTTG
|
rs749658792
|
|
NM_000092.5(COL4A4):c.2164+8A>T
|
rs745682054
|
|
NM_000092.5(COL4A4):c.2165-13del
|
rs140965334
|
|
NM_000092.5(COL4A4):c.2171del (p.Arg724fs)
|
rs1576207007
|
|
NM_000092.5(COL4A4):c.2197G>T (p.Gly733Ter)
|
|
|
NM_000092.5(COL4A4):c.2207del (p.Lys736fs)
|
|
|
NM_000092.5(COL4A4):c.2211delinsTGCTAATTC (p.Ser738fs)
|
|
|
NM_000092.5(COL4A4):c.2219dup (p.Val741fs)
|
rs141127013
|
|
NM_000092.5(COL4A4):c.2241del (p.Gly748fs)
|
|
|
NM_000092.5(COL4A4):c.2279dup (p.Asp761fs)
|
rs1553643669
|
|
NM_000092.5(COL4A4):c.2297_2298del (p.His766fs)
|
|
|
NM_000092.5(COL4A4):c.2312dup (p.Arg773fs)
|
rs1976337637
|
|
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.2346del (p.Gly783fs)
|
|
|
NM_000092.5(COL4A4):c.2367A>T (p.Gly789=)
|
rs56247709
|
|
NM_000092.5(COL4A4):c.2374G>A (p.Gly792Arg)
|
rs768003309
|
|
NM_000092.5(COL4A4):c.2377del (p.Ala793fs)
|
rs1976320157
|
|
NM_000092.5(COL4A4):c.2383+2_2383+5dup
|
rs1553643488
|
|
NM_000092.5(COL4A4):c.2402G>T (p.Gly801Val)
|
rs200814061
|
|
NM_000092.5(COL4A4):c.2420del (p.Gly807fs)
|
rs786205640
|
|
NM_000092.5(COL4A4):c.248G>A (p.Gly83Glu)
|
rs1559677316
|
|
NM_000092.5(COL4A4):c.2532T>A (p.Tyr844Ter)
|
|
|
NM_000092.5(COL4A4):c.2545+2T>G
|
rs1559515075
|
|
NM_000092.5(COL4A4):c.2546-1G>C
|
rs1553641728
|
|
NM_000092.5(COL4A4):c.2594del (p.Pro865fs)
|
rs2150235627
|
|
NM_000092.5(COL4A4):c.2599G>T (p.Gly867Ter)
|
rs768902127
|
|
NM_000092.5(COL4A4):c.2611C>T (p.Leu871Phe)
|
rs910142548
|
|
NM_000092.5(COL4A4):c.2621_2647dup (p.Leu874_Gly882dup)
|
rs765923395
|
|
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.2634_2660del (p.Ala880_Gly888del)
|
|
|
NM_000092.5(COL4A4):c.2638_2639del (p.Ala880fs)
|
rs1553641611
|
|
NM_000092.5(COL4A4):c.2638del (p.Ala880fs)
|
rs778043831
|
|
NM_000092.5(COL4A4):c.2662G>A (p.Gly888Arg)
|
rs1363277825
|
|
NM_000092.5(COL4A4):c.2672_2673insCATCATC (p.Pro892fs)
|
|
|
NM_000092.5(COL4A4):c.2672_2680delinsT (p.Gly891fs)
|
|
|
NM_000092.5(COL4A4):c.2726G>A (p.Gly909Glu)
|
rs2150221180
|
|
NM_000092.5(COL4A4):c.274G>T (p.Gly92Ter)
|
rs2061755379
|
|
NM_000092.5(COL4A4):c.2788G>A (p.Gly930Ser)
|
|
|
NM_000092.5(COL4A4):c.2817_2819delinsTATAAGAGACA (p.Met940fs)
|
|
|
NM_000092.5(COL4A4):c.2826_2827insAC (p.Leu943fs)
|
rs1559508134
|
|
NM_000092.5(COL4A4):c.2851G>A (p.Gly951Arg)
|
|
|
NM_000092.5(COL4A4):c.2880dup (p.Asp961fs)
|
|
|
NM_000092.5(COL4A4):c.2894dup (p.Met965fs)
|
|
|
NM_000092.5(COL4A4):c.2908C>T (p.Gln970Ter)
|
rs372413045
|
|
NM_000092.5(COL4A4):c.2922T>C (p.Pro974=)
|
rs762735176
|
|
NM_000092.5(COL4A4):c.2940dup (p.Gly981fs)
|
rs1974295317
|
|
NM_000092.5(COL4A4):c.2967_2968del (p.Arg989_Gly990insTer)
|
rs748473278
|
|
NM_000092.5(COL4A4):c.2968+1G>T
|
|
|
NM_000092.5(COL4A4):c.2969-1G>C
|
rs1553639043
|
|
NM_000092.5(COL4A4):c.297T>A (p.Pro99=)
|
rs1576662029
|
|
NM_000092.5(COL4A4):c.2992C>T (p.Gln998Ter)
|
rs1974009894
|
|
NM_000092.5(COL4A4):c.3000_3004del (p.Gly1002fs)
|
|
|
NM_000092.5(COL4A4):c.3005dup (p.Glu1003fs)
|
|
|
NM_000092.5(COL4A4):c.3018A>T (p.Arg1006Ser)
|
rs531161419
|
|
NM_000092.5(COL4A4):c.3021C>G (p.Tyr1007Ter)
|
rs746105339
|
|
NM_000092.5(COL4A4):c.3031G>T (p.Gly1011Ter)
|
|
|
NM_000092.5(COL4A4):c.3039_3040del (p.His1013fs)
|
|
|
NM_000092.5(COL4A4):c.3058A>T (p.Lys1020Ter)
|
|
|
NM_000092.5(COL4A4):c.3064C>T (p.Gln1022Ter)
|
rs1973992894
|
|
NM_000092.5(COL4A4):c.3089G>T (p.Gly1030Val)
|
rs772699709
|
|
NM_000092.5(COL4A4):c.3101C>A (p.Ser1034Ter)
|
rs1576129421
|
|
NM_000092.5(COL4A4):c.3103A>G (p.Thr1035Ala)
|
rs1553638898
|
|
NM_000092.5(COL4A4):c.3130_3132delinsT (p.Pro1044fs)
|
|
|
NM_000092.5(COL4A4):c.3151-2A>G
|
rs1369097739
|
|
NM_000092.5(COL4A4):c.3177del (p.Gly1060fs)
|
|
|
NM_000092.5(COL4A4):c.3185C>A (p.Ser1062Ter)
|
|
|
NM_000092.5(COL4A4):c.3194_3195del (p.Asp1065fs)
|
|
|
NM_000092.5(COL4A4):c.3196G>C (p.Gly1066Arg)
|
rs1333536476
|
|
NM_000092.5(COL4A4):c.3205G>C (p.Gly1069Arg)
|
rs1973758214
|
|
NM_000092.5(COL4A4):c.3214+129G>C
|
rs2272203
|
|
NM_000092.5(COL4A4):c.3214+1G>A
|
rs747167770
|
|
NM_000092.5(COL4A4):c.3214+1G>T
|
rs747167770
|
|
NM_000092.5(COL4A4):c.3220A>T (p.Lys1074Ter)
|
rs1973140216
|
|
NM_000092.5(COL4A4):c.3244_3245delinsT (p.Gly1082fs)
|
|
|
NM_000092.5(COL4A4):c.3259A>T (p.Lys1087Ter)
|
rs1973132502
|
|
NM_000092.5(COL4A4):c.3263G>T (p.Gly1088Val)
|
|
|
NM_000092.5(COL4A4):c.328-1G>A
|
rs754669149
|
|
NM_000092.5(COL4A4):c.3281del (p.Gly1094fs)
|
|
|
NM_000092.5(COL4A4):c.3289+1G>C
|
rs1973128133
|
|
NM_000092.5(COL4A4):c.3297del (p.Phe1099fs)
|
|
|
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.3317G>T (p.Gly1106Val)
|
|
|
NM_000092.5(COL4A4):c.3347C>G (p.Ser1116Ter)
|
rs1971792460
|
|
NM_000092.5(COL4A4):c.3374C>T (p.Ser1125Phe)
|
rs766044583
|
|
NM_000092.5(COL4A4):c.3389G>T (p.Gly1130Val)
|
|
|
NM_000092.5(COL4A4):c.3398-5C>G
|
rs1334751349
|
|
NM_000092.5(COL4A4):c.3424G>T (p.Gly1142Ter)
|
|
|
NM_000092.5(COL4A4):c.3457A>T (p.Arg1153Ter)
|
rs1971610561
|
|
NM_000092.5(COL4A4):c.3466dup (p.Gln1156fs)
|
|
|
NM_000092.5(COL4A4):c.347G>A (p.Gly116Glu)
|
rs1553696235
|
|
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.3559G>A (p.Gly1187Arg)
|
rs1968850188
|
|
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.3584ATG[1] (p.Asp1196del)
|
rs780991255
|
|
NM_000092.5(COL4A4):c.3594del (p.Pro1199fs)
|
|
|
NM_000092.5(COL4A4):c.3601G>A (p.Gly1201Ser)
|
rs121912858
|
|
NM_000092.5(COL4A4):c.3619G>A (p.Gly1207Arg)
|
rs1968585119
|
|
NM_000092.5(COL4A4):c.3626_3627del (p.Lys1209fs)
|
|
|
NM_000092.5(COL4A4):c.3638G>T (p.Gly1213Val)
|
rs1559455617
|
|
NM_000092.5(COL4A4):c.3688G>T (p.Gly1230Cys)
|
rs781360383
|
|
NM_000092.5(COL4A4):c.3696A>G (p.Pro1232=)
|
rs1968564790
|
|
NM_000092.5(COL4A4):c.3699_3706+1del
|
|
|
NM_000092.5(COL4A4):c.3704del (p.Pro1235fs)
|
rs754706338
|
|
NM_000092.5(COL4A4):c.3713C>A (p.Ser1238Ter)
|
rs121912859
|
|
NM_000092.5(COL4A4):c.3716G>T (p.Gly1239Val)
|
rs1394140383
|
|
NM_000092.5(COL4A4):c.3719del (p.Pro1240fs)
|
|
|
NM_000092.5(COL4A4):c.372+2T>G
|
rs1553696207
|
|
NM_000092.5(COL4A4):c.3738C>T (p.Ala1246=)
|
rs2149978554
|
|
NM_000092.5(COL4A4):c.3755del (p.Lys1252fs)
|
|
|
NM_000092.5(COL4A4):c.3770C>T (p.Pro1257Leu)
|
rs755884665
|
|
NM_000092.5(COL4A4):c.3829C>T (p.Pro1277Ser)
|
rs1037084154
|
|
NM_000092.5(COL4A4):c.3834dup (p.Gly1279fs)
|
rs1553625684
|
|
NM_000092.5(COL4A4):c.3844G>T (p.Gly1282Trp)
|
rs777134408
|
|
NM_000092.5(COL4A4):c.3849T>A (p.Ser1283Arg)
|
rs1553625644
|
|
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.3882_3883del (p.Cys1294fs)
|
rs2149956832
|
|
NM_000092.5(COL4A4):c.3909del (p.Gly1304fs)
|
|
|
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.3967C>T (p.Gln1323Ter)
|
rs1489351299
|
|
NM_000092.5(COL4A4):c.3973+1G>T
|
rs755478262
|
|
NM_000092.5(COL4A4):c.3974-12dup
|
rs200823182
|
|
NM_000092.5(COL4A4):c.3974-14T>C
|
rs1427442513
|
|
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.4002_4005dup (p.His1336fs)
|
rs1553624127
|
|
NM_000092.5(COL4A4):c.4003C>G (p.Pro1335Ala)
|
rs1331634432
|
|
NM_000092.5(COL4A4):c.4035G>C (p.Lys1345Asn)
|
rs1369617472
|
|
NM_000092.5(COL4A4):c.4041A>T (p.Leu1347Phe)
|
rs16823077
|
|
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.4079C>T (p.Pro1360Leu)
|
|
|
NM_000092.5(COL4A4):c.4081+14C>T
|
rs1553623984
|
|
NM_000092.5(COL4A4):c.4081+15T>C
|
rs1356475870
|
|
NM_000092.5(COL4A4):c.4081+22A>C
|
rs1553623967
|
|
NM_000092.5(COL4A4):c.4081+22A>G
|
rs1553623967
|
|
NM_000092.5(COL4A4):c.4090G>T (p.Gly1364Cys)
|
rs1553622675
|
|
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.4093G>T (p.Glu1365Ter)
|
rs2149854376
|
|
NM_000092.5(COL4A4):c.4095A>G (p.Glu1365=)
|
rs1966135663
|
|
NM_000092.5(COL4A4):c.4125T>A (p.Cys1375Ter)
|
|
|
NM_000092.5(COL4A4):c.4208C>G (p.Ser1403Ter)
|
|
|
NM_000092.5(COL4A4):c.4271_4272del (p.Gly1424fs)
|
|
|
NM_000092.5(COL4A4):c.4278T>C (p.Pro1426=)
|
rs2149764265
|
|
NM_000092.5(COL4A4):c.428G>T (p.Gly143Val)
|
rs1553695389
|
|
NM_000092.5(COL4A4):c.4298G>A (p.Gly1433Asp)
|
rs1553614863
|
|
NM_000092.5(COL4A4):c.4324G>T (p.Gly1442Ter)
|
rs1963884904
|
|
NM_000092.5(COL4A4):c.4333+2T>C
|
rs755927061
|
|
NM_000092.5(COL4A4):c.4334-23A>G
|
rs766501515
|
|
NM_000092.5(COL4A4):c.4349_4366del (p.Ile1450_Pro1455del)
|
rs2149745228
|
|
NM_000092.5(COL4A4):c.4351G>A (p.Gly1451Arg)
|
rs1963420059
|
|
NM_000092.5(COL4A4):c.436G>A (p.Gly146Ser)
|
rs886055729
|
|
NM_000092.5(COL4A4):c.4426C>T (p.Gln1476Ter)
|
rs1963402519
|
|
NM_000092.5(COL4A4):c.4440C>G (p.Cys1480Trp)
|
rs774471575
|
|
NM_000092.5(COL4A4):c.4460_4463dup (p.Trp1488fs)
|
rs1575714693
|
|
NM_000092.5(COL4A4):c.446G>T (p.Gly149Val)
|
rs374815903
|
|
NM_000092.5(COL4A4):c.4470del (p.Tyr1491fs)
|
rs1963392922
|
|
NM_000092.5(COL4A4):c.4472A>G (p.Tyr1491Cys)
|
rs1553613772
|
|
NM_000092.5(COL4A4):c.4508del (p.His1503fs)
|
rs1963379793
|
|
NM_000092.5(COL4A4):c.4522+4T>G
|
rs1963375507
|
|
NM_000092.5(COL4A4):c.4523-1G>A
|
|
|
NM_000092.5(COL4A4):c.4538G>A (p.Cys1513Tyr)
|
rs1962651394
|
|
NM_000092.5(COL4A4):c.4544_4556del (p.Pro1515fs)
|
rs2149722718
|
|
NM_000092.5(COL4A4):c.4562C>G (p.Pro1521Arg)
|
rs1222616093
|
|
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.4603_4604del (p.Gln1535fs)
|
rs1962628992
|
|
NM_000092.5(COL4A4):c.4628_4631del (p.Leu1543fs)
|
rs1575696646
|
|
NM_000092.5(COL4A4):c.4646dup (p.Met1551fs)
|
rs2149721718
|
|
NM_000092.5(COL4A4):c.4660C>T (p.Leu1554Phe)
|
rs1962599188
|
|
NM_000092.5(COL4A4):c.4679_4683del (p.Arg1560fs)
|
rs1553612499
|
|
NM_000092.5(COL4A4):c.4684del (p.Tyr1562fs)
|
rs1962591629
|
|
NM_000092.5(COL4A4):c.4694_4713del (p.Arg1565fs)
|
rs1553612433
|
|
NM_000092.5(COL4A4):c.4717del (p.Ala1573fs)
|
rs2149720724
|
|
NM_000092.5(COL4A4):c.4720C>T (p.Gln1574Ter)
|
rs2149720690
|
|
NM_000092.5(COL4A4):c.4730_4732del (p.Ala1577del)
|
rs1559395809
|
|
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.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.4809+1G>A
|
rs1553612309
|
|
NM_000092.5(COL4A4):c.4809+7dup
|
rs759784585
|
|
NM_000092.5(COL4A4):c.4820del (p.Ala1607fs)
|
rs1559394354
|
|
NM_000092.5(COL4A4):c.4830AGG[2] (p.Gly1613del)
|
rs768416358
|
|
NM_000092.5(COL4A4):c.487dup (p.Leu163fs)
|
|
|
NM_000092.5(COL4A4):c.489+6A>G
|
|
|
NM_000092.5(COL4A4):c.4903C>T (p.Gln1635Ter)
|
rs1553611947
|
|
NM_000092.5(COL4A4):c.491G>A (p.Gly164Asp)
|
rs2061397001
|
|
NM_000092.5(COL4A4):c.4921T>C (p.Cys1641Arg)
|
|
|
NM_000092.5(COL4A4):c.4923C>A (p.Cys1641Ter)
|
rs121912862
|
|
NM_000092.5(COL4A4):c.4932delinsTT (p.Ala1645fs)
|
rs1553611909
|
|
NM_000092.5(COL4A4):c.4948T>C (p.Phe1650Leu)
|
rs1553611876
|
|
NM_000092.5(COL4A4):c.4953G>A (p.Trp1651Ter)
|
rs1408907127
|
|
NM_000092.5(COL4A4):c.555dup (p.Gln186fs)
|
rs2061393958
|
|
NM_000092.5(COL4A4):c.556C>T (p.Gln186Ter)
|
|
|
NM_000092.5(COL4A4):c.558+1G>A
|
rs2061393783
|
|
NM_000092.5(COL4A4):c.559-2A>C
|
rs766243664
|
|
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+1G>A
|
rs1553690565
|
|
NM_000092.5(COL4A4):c.595G>T (p.Gly199Ter)
|
rs750345987
|
|
NM_000092.5(COL4A4):c.596G>T (p.Gly199Val)
|
rs1559646395
|
|
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.657+1G>T
|
rs1553688696
|
|
NM_000092.5(COL4A4):c.673_680del (p.Pro225fs)
|
rs1553688330
|
|
NM_000092.5(COL4A4):c.678_682dup (p.Pro228fs)
|
rs1576571835
|
|
NM_000092.5(COL4A4):c.680G>A (p.Arg227His)
|
rs368248078
|
|
NM_000092.5(COL4A4):c.693G>A (p.Lys231=)
|
rs1559644463
|
|
NM_000092.5(COL4A4):c.710del (p.Gly237fs)
|
rs2060994755
|
|
NM_000092.5(COL4A4):c.718G>C (p.Gly240Arg)
|
rs2060994526
|
|
NM_000092.5(COL4A4):c.71G>A (p.Trp24Ter)
|
rs1201925443
|
|
NM_000092.5(COL4A4):c.727G>T (p.Gly243Ter)
|
|
|
NM_000092.5(COL4A4):c.731A>C (p.Asp244Ala)
|
rs2060993539
|
|
NM_000092.5(COL4A4):c.736-4del
|
rs750699545
|
|
NM_000092.5(COL4A4):c.755G>A (p.Gly252Asp)
|
rs760795817
|
|
NM_000092.5(COL4A4):c.755G>C (p.Gly252Ala)
|
|
|
NM_000092.5(COL4A4):c.75_76del (p.Leu26fs)
|
|
|
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.836G>A (p.Gly279Glu)
|
rs2060622881
|
|
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.853G>A (p.Gly285Arg)
|
rs2150793962
|
|
NM_000092.5(COL4A4):c.870G>A (p.Lys290=)
|
rs2060620860
|
|
NM_000092.5(COL4A4):c.871-1G>C
|
rs375450996
|
|
NM_000092.5(COL4A4):c.895G>A (p.Gly299Arg)
|
|
|
NM_000092.5(COL4A4):c.903dup (p.Gly302fs)
|
rs1559628183
|
|
NM_000092.5(COL4A4):c.913G>T (p.Gly305Ter)
|
|
|
NM_000092.5(COL4A4):c.930+5G>A
|
|
|
NM_000092.5(COL4A4):c.931-18dup
|
rs746509796
|
|
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.948T>A (p.Tyr316Ter)
|
rs34509421
|
|
NM_000092.5(COL4A4):c.975+1G>C
|
rs1553683192
|
|
NM_000092.5(COL4A4):c.994G>A (p.Gly332Arg)
|
|
|
NM_000092.5(COL4A4):c.994G>T (p.Gly332Ter)
|
rs2060521689
|
|
NM_000092.5:c.1205_1369del
|
|
|