NM_000092.5(COL4A4):c.3979G>A (p.Val1327Met)
|
rs2229813
|
0.46716
|
NM_000092.5(COL4A4):c.2996G>A (p.Gly999Glu)
|
rs13027659
|
0.01279
|
NM_000092.5(COL4A4):c.2717-5A>T
|
rs1800519
|
0.01182
|
NM_000092.5(COL4A4):c.-101-4A>G
|
rs147186690
|
0.00562
|
NM_000092.5(COL4A4):c.*4194C>T
|
rs540904446
|
0.00467
|
NM_000092.5(COL4A4):c.*859A>C
|
rs187539474
|
0.00416
|
NM_000092.5(COL4A4):c.2630G>A (p.Arg877Gln)
|
rs150979437
|
0.00274
|
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.*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.*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.4185G>A (p.Gly1395=)
|
rs55978207
|
0.00057
|
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.-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.*3397T>C
|
rs531406341
|
0.00027
|
NM_000092.5(COL4A4):c.*3876G>A
|
rs184473858
|
0.00026
|
NM_000092.5(COL4A4):c.1435G>C (p.Gly479Arg)
|
rs202210475
|
0.00026
|
NM_000092.5(COL4A4):c.2629C>T (p.Arg877Trp)
|
rs55948916
|
0.00026
|
NM_000092.5(COL4A4):c.*2069T>C
|
rs886055710
|
0.00023
|
NM_000092.5(COL4A4):c.*569C>A
|
rs772402371
|
0.00023
|
NM_000092.5(COL4A4):c.2144C>T (p.Ala715Val)
|
rs76636743
|
0.00021
|
NM_000092.5(COL4A4):c.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.*4534T>C
|
rs767613572
|
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.1055C>T (p.Pro352Leu)
|
rs371717486
|
0.00016
|
NM_000092.5(COL4A4):c.4924C>T (p.His1642Tyr)
|
rs200450557
|
0.00016
|
NM_000092.5(COL4A4):c.2430C>G (p.Gly810=)
|
rs769363556
|
0.00015
|
NM_000092.5(COL4A4):c.*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.190C>T (p.Arg64Trp)
|
rs200668675
|
0.00012
|
NM_000092.5(COL4A4):c.2161C>T (p.Pro721Ser)
|
rs200759521
|
0.00012
|
NM_000092.5(COL4A4):c.338G>A (p.Gly113Asp)
|
rs766085522
|
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.5045G>A (p.Arg1682Gln)
|
rs368404711
|
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.3914C>T (p.Pro1305Leu)
|
rs746621296
|
0.00009
|
NM_000092.5(COL4A4):c.3995C>T (p.Pro1332Leu)
|
rs200860702
|
0.00009
|
NM_000092.5(COL4A4):c.1460-6G>A
|
rs771213140
|
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.2985C>T (p.Pro995=)
|
rs79261248
|
0.00007
|
NM_000092.5(COL4A4):c.3532G>A (p.Gly1178Ser)
|
rs780504632
|
0.00007
|
NM_000092.5(COL4A4):c.*1112G>A
|
rs886055717
|
0.00006
|
NM_000092.5(COL4A4):c.*1802T>A
|
rs886055713
|
0.00006
|
NM_000092.5(COL4A4):c.1129C>T (p.Arg377Cys)
|
rs555143841
|
0.00006
|
NM_000092.5(COL4A4):c.1394C>T (p.Pro465Leu)
|
rs200411532
|
0.00006
|
NM_000092.5(COL4A4):c.191G>A (p.Arg64Gln)
|
rs371326070
|
0.00006
|
NM_000092.5(COL4A4):c.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.4151C>T (p.Ala1384Val)
|
rs199911379
|
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.4961C>T (p.Thr1654Met)
|
rs771066050
|
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.2589C>T (p.Pro863=)
|
rs772517977
|
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.4390G>A (p.Gly1464Ser)
|
rs372558522
|
0.00005
|
NM_000092.5(COL4A4):c.4421C>T (p.Thr1474Met)
|
rs201615111
|
0.00005
|
NM_000092.5(COL4A4):c.4578C>T (p.Asn1526=)
|
rs202109186
|
0.00005
|
NM_000092.5(COL4A4):c.4612G>A (p.Asp1538Asn)
|
rs376401228
|
0.00005
|
NM_000092.5(COL4A4):c.788C>G (p.Pro263Arg)
|
rs369108674
|
0.00005
|
NM_000092.5(COL4A4):c.928C>T (p.Arg310Trp)
|
rs200817090
|
0.00005
|
NM_000092.5(COL4A4):c.*1073del
|
rs149522920
|
0.00004
|
NM_000092.5(COL4A4):c.*128G>A
|
rs886055722
|
0.00004
|
NM_000092.5(COL4A4):c.*1423T>C
|
rs886055714
|
0.00004
|
NM_000092.5(COL4A4):c.*1960C>A
|
rs1035280131
|
0.00004
|
NM_000092.5(COL4A4):c.*2033G>A
|
rs886055711
|
0.00004
|
NM_000092.5(COL4A4):c.*888G>A
|
rs372146953
|
0.00004
|
NM_000092.5(COL4A4):c.*931C>T
|
rs903690028
|
0.00004
|
NM_000092.5(COL4A4):c.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.3743G>A (p.Gly1248Glu)
|
rs548799639
|
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.723A>C (p.Gln241His)
|
rs201673987
|
0.00004
|
NM_000092.5(COL4A4):c.90C>T (p.Leu30=)
|
rs747805491
|
0.00004
|
NM_000092.5(COL4A4):c.980A>G (p.Glu327Gly)
|
rs375714304
|
0.00004
|
NM_000092.5(COL4A4):c.*1026G>A
|
rs927436000
|
0.00003
|
NM_000092.5(COL4A4):c.*1242C>T
|
rs886055716
|
0.00003
|
NM_000092.5(COL4A4):c.*2677T>G
|
rs892742003
|
0.00003
|
NM_000092.5(COL4A4):c.*3299A>G
|
rs886055706
|
0.00003
|
NM_000092.5(COL4A4):c.*4393G>T
|
rs886055699
|
0.00003
|
NM_000092.5(COL4A4):c.1471C>T (p.Leu491Phe)
|
rs777805216
|
0.00003
|
NM_000092.5(COL4A4):c.2586T>C (p.Pro862=)
|
rs761238651
|
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.3451G>A (p.Gly1151Arg)
|
rs899227425
|
0.00003
|
NM_000092.5(COL4A4):c.4021C>A (p.Pro1341Thr)
|
rs539867676
|
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.-1G>A
|
rs780102207
|
0.00002
|
NM_000092.5(COL4A4):c.110A>G (p.Tyr37Cys)
|
rs750707504
|
0.00002
|
NM_000092.5(COL4A4):c.1276G>A (p.Gly426Arg)
|
rs552375817
|
0.00002
|
NM_000092.5(COL4A4):c.1396G>A (p.Gly466Arg)
|
rs201859109
|
0.00002
|
NM_000092.5(COL4A4):c.1560T>G (p.Pro520=)
|
rs374935235
|
0.00002
|
NM_000092.5(COL4A4):c.1893A>G (p.Gly631=)
|
rs370886041
|
0.00002
|
NM_000092.5(COL4A4):c.1990G>A (p.Asp664Asn)
|
rs201181725
|
0.00002
|
NM_000092.5(COL4A4):c.2242G>A (p.Gly748Ser)
|
rs762139460
|
0.00002
|
NM_000092.5(COL4A4):c.2732C>G (p.Pro911Arg)
|
rs764465049
|
0.00002
|
NM_000092.5(COL4A4):c.2752G>A (p.Gly918Arg)
|
rs372606845
|
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.372+7A>G
|
rs1483461114
|
0.00002
|
NM_000092.5(COL4A4):c.3859C>G (p.Leu1287Val)
|
rs571869797
|
0.00002
|
NM_000092.5(COL4A4):c.4264G>A (p.Val1422Ile)
|
rs368105222
|
0.00002
|
NM_000092.5(COL4A4):c.4322C>G (p.Pro1441Arg)
|
rs192942886
|
0.00002
|
NM_000092.5(COL4A4):c.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.490-3C>G
|
rs762040845
|
0.00002
|
NM_000092.5(COL4A4):c.4950C>G (p.Phe1650Leu)
|
rs542384685
|
0.00002
|
NM_000092.5(COL4A4):c.539G>A (p.Gly180Asp)
|
rs770685084
|
0.00002
|
NM_000092.5(COL4A4):c.*1173T>C
|
rs1360525515
|
0.00001
|
NM_000092.5(COL4A4):c.*1930T>C
|
rs1289208914
|
0.00001
|
NM_000092.5(COL4A4):c.*222C>G
|
rs1305583691
|
0.00001
|
NM_000092.5(COL4A4):c.*22C>A
|
rs562265530
|
0.00001
|
NM_000092.5(COL4A4):c.*4363G>C
|
rs1233339249
|
0.00001
|
NM_000092.5(COL4A4):c.*4369C>T
|
rs886055700
|
0.00001
|
NM_000092.5(COL4A4):c.*4498T>C
|
rs1481974918
|
0.00001
|
NM_000092.5(COL4A4):c.*4583A>G
|
rs886055698
|
0.00001
|
NM_000092.5(COL4A4):c.*4599T>C
|
rs1280441510
|
0.00001
|
NM_000092.5(COL4A4):c.*833C>T
|
rs886055720
|
0.00001
|
NM_000092.5(COL4A4):c.1036C>T (p.Pro346Ser)
|
rs1042927949
|
0.00001
|
NM_000092.5(COL4A4):c.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.1225C>T (p.Pro409Ser)
|
rs377292825
|
0.00001
|
NM_000092.5(COL4A4):c.123G>C (p.Lys41Asn)
|
rs1162611784
|
0.00001
|
NM_000092.5(COL4A4):c.133G>T (p.Gly45Cys)
|
rs753016038
|
0.00001
|
NM_000092.5(COL4A4):c.1360G>A (p.Gly454Arg)
|
rs1319908269
|
0.00001
|
NM_000092.5(COL4A4):c.1369+15A>C
|
rs1216718864
|
0.00001
|
NM_000092.5(COL4A4):c.1395C>T (p.Pro465=)
|
rs771419084
|
0.00001
|
NM_000092.5(COL4A4):c.1441G>A (p.Gly481Ser)
|
rs181528936
|
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.1792C>A (p.Pro598Thr)
|
rs1411689737
|
0.00001
|
NM_000092.5(COL4A4):c.1820C>T (p.Ala607Val)
|
rs373916569
|
0.00001
|
NM_000092.5(COL4A4):c.1823C>A (p.Thr608Asn)
|
rs747599746
|
0.00001
|
NM_000092.5(COL4A4):c.192G>A (p.Arg64=)
|
rs748152418
|
0.00001
|
NM_000092.5(COL4A4):c.1961G>A (p.Gly654Asp)
|
rs1158615890
|
0.00001
|
NM_000092.5(COL4A4):c.1963C>T (p.Pro655Ser)
|
rs886055726
|
0.00001
|
NM_000092.5(COL4A4):c.1988-3C>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.2182G>A (p.Gly728Arg)
|
rs202243658
|
0.00001
|
NM_000092.5(COL4A4):c.228T>G (p.Ile76Met)
|
rs1393470640
|
0.00001
|
NM_000092.5(COL4A4):c.2294G>T (p.Gly765Val)
|
rs747881404
|
0.00001
|
NM_000092.5(COL4A4):c.2312G>A (p.Gly771Glu)
|
rs781660254
|
0.00001
|
NM_000092.5(COL4A4):c.2347G>A (p.Gly783Arg)
|
rs879255339
|
0.00001
|
NM_000092.5(COL4A4):c.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.2407C>T (p.Leu803=)
|
rs762646235
|
0.00001
|
NM_000092.5(COL4A4):c.242C>A (p.Ala81Asp)
|
rs747022394
|
0.00001
|
NM_000092.5(COL4A4):c.2549C>T (p.Ala850Val)
|
rs758199486
|
0.00001
|
NM_000092.5(COL4A4):c.2617G>A (p.Gly873Arg)
|
rs929684384
|
0.00001
|
NM_000092.5(COL4A4):c.264A>G (p.Ser88=)
|
rs746574978
|
0.00001
|
NM_000092.5(COL4A4):c.26T>A (p.Met9Lys)
|
rs1440047357
|
0.00001
|
NM_000092.5(COL4A4):c.2860+3A>C
|
rs1214723450
|
0.00001
|
NM_000092.5(COL4A4):c.2888G>A (p.Gly963Glu)
|
rs1396467090
|
0.00001
|
NM_000092.5(COL4A4):c.2969-10A>G
|
rs1576130915
|
0.00001
|
NM_000092.5(COL4A4):c.3014G>A (p.Gly1005Glu)
|
rs769138971
|
0.00001
|
NM_000092.5(COL4A4):c.303A>T (p.Gly101=)
|
rs1450052915
|
0.00001
|
NM_000092.5(COL4A4):c.3214+6G>A
|
rs372554120
|
0.00001
|
NM_000092.5(COL4A4):c.3307G>A (p.Gly1103Arg)
|
rs749299357
|
0.00001
|
NM_000092.5(COL4A4):c.3317G>A (p.Gly1106Asp)
|
rs1559482299
|
0.00001
|
NM_000092.5(COL4A4):c.3434G>A (p.Gly1145Glu)
|
rs1260916310
|
0.00001
|
NM_000092.5(COL4A4):c.3452G>C (p.Gly1151Ala)
|
rs371803356
|
0.00001
|
NM_000092.5(COL4A4):c.3506-8T>G
|
rs761588725
|
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.3805G>C (p.Asp1269His)
|
rs763515232
|
0.00001
|
NM_000092.5(COL4A4):c.4049C>T (p.Pro1350Leu)
|
rs771916354
|
0.00001
|
NM_000092.5(COL4A4):c.4070C>T (p.Thr1357Ile)
|
rs1258564025
|
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.4126C>T (p.Pro1376Ser)
|
rs780131074
|
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.4273T>C (p.Ser1425Pro)
|
rs764494474
|
0.00001
|
NM_000092.5(COL4A4):c.4288G>A (p.Gly1430Arg)
|
rs775926807
|
0.00001
|
NM_000092.5(COL4A4):c.4333+3A>G
|
rs1455105815
|
0.00001
|
NM_000092.5(COL4A4):c.4412A>C (p.His1471Pro)
|
rs762796207
|
0.00001
|
NM_000092.5(COL4A4):c.4413C>G (p.His1471Gln)
|
rs1478610555
|
0.00001
|
NM_000092.5(COL4A4):c.4423G>T (p.Asp1475Tyr)
|
rs767457222
|
0.00001
|
NM_000092.5(COL4A4):c.4624T>C (p.Trp1542Arg)
|
rs1161192021
|
0.00001
|
NM_000092.5(COL4A4):c.4643C>T (p.Pro1548Leu)
|
rs761671093
|
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.4788G>A (p.Trp1596Ter)
|
rs758096259
|
0.00001
|
NM_000092.5(COL4A4):c.4792G>A (p.Gly1598Arg)
|
rs1403779580
|
0.00001
|
NM_000092.5(COL4A4):c.4829A>G (p.Gln1610Arg)
|
rs369714481
|
0.00001
|
NM_000092.5(COL4A4):c.485C>T (p.Pro162Leu)
|
rs901711159
|
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.595-7T>A
|
rs765195717
|
0.00001
|
NM_000092.5(COL4A4):c.620C>T (p.Ala207Val)
|
rs369698515
|
0.00001
|
NM_000092.5(COL4A4):c.641G>A (p.Gly214Glu)
|
rs2061038363
|
0.00001
|
NM_000092.5(COL4A4):c.64G>A (p.Gly22Ser)
|
rs779795137
|
0.00001
|
NM_000092.5(COL4A4):c.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.735G>A (p.Pro245=)
|
rs923865420
|
0.00001
|
NM_000092.5(COL4A4):c.754G>A (p.Gly252Ser)
|
rs2060673883
|
0.00001
|
NM_000092.5(COL4A4):c.817G>T (p.Gly273Cys)
|
rs762043158
|
0.00001
|
NM_000092.5(COL4A4):c.832C>T (p.Pro278Ser)
|
rs1576522703
|
0.00001
|
NM_000092.5(COL4A4):c.871-6T>C
|
rs749753913
|
0.00001
|
NM_000092.5(COL4A4):c.88C>T (p.Leu30Phe)
|
rs758174051
|
0.00001
|
NC_000002.11:g.(?_227886744)_(227890546_?)del
|
|
|
NC_000002.11:g.(?_227890498)_(227890546_?)del
|
|
|
NC_000002.11:g.(?_227912181)_(227912275_?)del
|
|
|
NC_000002.11:g.(?_227945159)_(228012196_?)dup
|
|
|
NC_000002.11:g.(?_227946811)_(227954693_?)dup
|
|
|
NC_000002.11:g.(?_227946831)_(227954673_?)dup
|
|
|
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.*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.*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.*48G>A
|
rs767600758
|
|
NM_000092.5(COL4A4):c.*491A>G
|
rs149466995
|
|
NM_000092.5(COL4A4):c.*747T>C
|
rs752977716
|
|
NM_000092.5(COL4A4):c.*755T>C
|
rs191394048
|
|
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.-9T>C
|
|
|
NM_000092.5(COL4A4):c.1007T>C (p.Leu336Pro)
|
rs2150773325
|
|
NM_000092.5(COL4A4):c.1028A>C (p.Lys343Thr)
|
|
|
NM_000092.5(COL4A4):c.1029+11A>G
|
|
|
NM_000092.5(COL4A4):c.1030-14A>G
|
rs2060400553
|
|
NM_000092.5(COL4A4):c.1033_1050del (p.Asp345_Gly350del)
|
rs990679247
|
|
NM_000092.5(COL4A4):c.103T>C (p.Tyr35His)
|
rs2063418861
|
|
NM_000092.5(COL4A4):c.1048G>A (p.Gly350Arg)
|
|
|
NM_000092.5(COL4A4):c.1051C>T (p.His351Tyr)
|
|
|
NM_000092.5(COL4A4):c.1053C>A (p.His351Gln)
|
|
|
NM_000092.5(COL4A4):c.1074G>C (p.Leu358Phe)
|
rs374680846
|
|
NM_000092.5(COL4A4):c.1087C>T (p.Leu363Phe)
|
|
|
NM_000092.5(COL4A4):c.1091C>T (p.Pro364Leu)
|
|
|
NM_000092.5(COL4A4):c.1098A>G (p.Lys366=)
|
rs1305609812
|
|
NM_000092.5(COL4A4):c.1099+5G>A
|
rs2150749299
|
|
NM_000092.5(COL4A4):c.1100-20T>G
|
|
|
NM_000092.5(COL4A4):c.1100-3C>T
|
|
|
NM_000092.5(COL4A4):c.1111G>T (p.Asp371Tyr)
|
|
|
NM_000092.5(COL4A4):c.1144G>A (p.Gly382Arg)
|
rs2150739928
|
|
NM_000092.5(COL4A4):c.1159C>T (p.Pro387Ser)
|
rs1351733260
|
|
NM_000092.5(COL4A4):c.1162G>A (p.Gly388Ser)
|
|
|
NM_000092.5(COL4A4):c.1163G>T (p.Gly388Val)
|
rs2060341453
|
|
NM_000092.5(COL4A4):c.1180G>A (p.Gly394Ser)
|
rs2150739370
|
|
NM_000092.5(COL4A4):c.1204+5G>A
|
rs748967270
|
|
NM_000092.5(COL4A4):c.1204+7A>G
|
rs2060338870
|
|
NM_000092.5(COL4A4):c.1205G>A (p.Gly402Asp)
|
|
|
NM_000092.5(COL4A4):c.1217C>T (p.Pro406Leu)
|
|
|
NM_000092.5(COL4A4):c.1226C>T (p.Pro409Leu)
|
|
|
NM_000092.5(COL4A4):c.1228C>G (p.Gln410Glu)
|
|
|
NM_000092.5(COL4A4):c.1229A>G (p.Gln410Arg)
|
|
|
NM_000092.5(COL4A4):c.1241G>A (p.Gly414Asp)
|
rs2150687507
|
|
NM_000092.5(COL4A4):c.1243C>A (p.Leu415Ile)
|
|
|
NM_000092.5(COL4A4):c.1292C>T (p.Ala431Val)
|
|
|
NM_000092.5(COL4A4):c.1293_1310del (p.Lys434_Gly439del)
|
rs1362664502
|
|
NM_000092.5(COL4A4):c.1304C>A (p.Pro435Gln)
|
|
|
NM_000092.5(COL4A4):c.1321C>A (p.Pro441Thr)
|
rs2150686207
|
|
NM_000092.5(COL4A4):c.1361G>C (p.Gly454Ala)
|
rs2150685500
|
|
NM_000092.5(COL4A4):c.1379G>A (p.Cys460Tyr)
|
rs753659852
|
|
NM_000092.5(COL4A4):c.1404A>G (p.Gln468=)
|
rs774673142
|
|
NM_000092.5(COL4A4):c.1426C>A (p.Pro476Thr)
|
rs780544830
|
|
NM_000092.5(COL4A4):c.142G>C (p.Gly48Arg)
|
|
|
NM_000092.5(COL4A4):c.1459+2C>T
|
rs932962404
|
|
NM_000092.5(COL4A4):c.1459+5G>A
|
rs2150615599
|
|
NM_000092.5(COL4A4):c.1460G>A (p.Gly487Glu)
|
rs1064796418
|
|
NM_000092.5(COL4A4):c.1464T>G (p.Asn488Lys)
|
rs2059739807
|
|
NM_000092.5(COL4A4):c.1477G>T (p.Ala493Ser)
|
|
|
NM_000092.5(COL4A4):c.1487C>T (p.Pro496Leu)
|
rs2150596608
|
|
NM_000092.5(COL4A4):c.1505C>G (p.Pro502Arg)
|
|
|
NM_000092.5(COL4A4):c.1508G>T (p.Gly503Val)
|
rs2059737659
|
|
NM_000092.5(COL4A4):c.1522C>T (p.Pro508Ser)
|
rs2059736984
|
|
NM_000092.5(COL4A4):c.1551G>T (p.Leu517Phe)
|
|
|
NM_000092.5(COL4A4):c.1553G>A (p.Gly518Glu)
|
rs564334744
|
|
NM_000092.5(COL4A4):c.1567C>T (p.Leu523Phe)
|
|
|
NM_000092.5(COL4A4):c.1573A>G (p.Thr525Ala)
|
|
|
NM_000092.5(COL4A4):c.161T>G (p.Val54Gly)
|
|
|
NM_000092.5(COL4A4):c.1623+3G>C
|
|
|
NM_000092.5(COL4A4):c.1629G>C (p.Lys543Asn)
|
|
|
NM_000092.5(COL4A4):c.1634G>T (p.Gly545Val)
|
|
|
NM_000092.5(COL4A4):c.1666A>G (p.Lys556Glu)
|
|
|
NM_000092.5(COL4A4):c.1690G>A (p.Val564Ile)
|
|
|
NM_000092.5(COL4A4):c.169T>C (p.Cys57Arg)
|
|
|
NM_000092.5(COL4A4):c.16A>G (p.Ile6Val)
|
|
|
NM_000092.5(COL4A4):c.1700A>G (p.His567Arg)
|
rs2150506568
|
|
NM_000092.5(COL4A4):c.1718C>T (p.Pro573Leu)
|
|
|
NM_000092.5(COL4A4):c.1719T>C (p.Pro573=)
|
rs533957132
|
|
NM_000092.5(COL4A4):c.1738C>T (p.Pro580Ser)
|
|
|
NM_000092.5(COL4A4):c.1750G>A (p.Gly584Arg)
|
|
|
NM_000092.5(COL4A4):c.1756C>A (p.His586Asn)
|
|
|
NM_000092.5(COL4A4):c.1757A>G (p.His586Arg)
|
|
|
NM_000092.5(COL4A4):c.1767T>A (p.Asp589Glu)
|
rs886055727
|
|
NM_000092.5(COL4A4):c.1772A>C (p.His591Pro)
|
|
|
NM_000092.5(COL4A4):c.1774G>C (p.Ala592Pro)
|
|
|
NM_000092.5(COL4A4):c.1778G>A (p.Gly593Glu)
|
|
|
NM_000092.5(COL4A4):c.1792C>T (p.Pro598Ser)
|
rs1411689737
|
|
NM_000092.5(COL4A4):c.1804-7T>G
|
rs2150477819
|
|
NM_000092.5(COL4A4):c.1805G>A (p.Gly602Glu)
|
|
|
NM_000092.5(COL4A4):c.1811A>G (p.His604Arg)
|
|
|
NM_000092.5(COL4A4):c.1825C>G (p.Pro609Ala)
|
rs1263397268
|
|
NM_000092.5(COL4A4):c.1829G>A (p.Gly610Asp)
|
rs2150477193
|
|
NM_000092.5(COL4A4):c.1831G>A (p.Gly611Ser)
|
rs758860164
|
|
NM_000092.5(COL4A4):c.1865G>A (p.Gly622Asp)
|
|
|
NM_000092.5(COL4A4):c.1871C>T (p.Ala624Val)
|
rs2150476651
|
|
NM_000092.5(COL4A4):c.1877C>T (p.Pro626Leu)
|
rs1468423581
|
|
NM_000092.5(COL4A4):c.1914A>G (p.Pro638=)
|
rs759226801
|
|
NM_000092.5(COL4A4):c.192+1G>A
|
|
|
NM_000092.5(COL4A4):c.192+3A>G
|
|
|
NM_000092.5(COL4A4):c.192+5G>A
|
|
|
NM_000092.5(COL4A4):c.1922G>A (p.Arg641Gln)
|
|
|
NM_000092.5(COL4A4):c.1952G>A (p.Gly651Asp)
|
rs2059121113
|
|
NM_000092.5(COL4A4):c.1967A>G (p.Asp656Gly)
|
rs1387537859
|
|
NM_000092.5(COL4A4):c.1986A>T (p.Lys662Asn)
|
|
|
NM_000092.5(COL4A4):c.1987+4A>G
|
rs1559562567
|
|
NM_000092.5(COL4A4):c.2014T>C (p.Tyr672His)
|
rs2150312695
|
|
NM_000092.5(COL4A4):c.2023A>G (p.Arg675Gly)
|
|
|
NM_000092.5(COL4A4):c.2023A>T (p.Arg675Trp)
|
rs1018765959
|
|
NM_000092.5(COL4A4):c.2027A>G (p.His676Arg)
|
|
|
NM_000092.5(COL4A4):c.204_212del (p.67PGP[1])
|
rs764884579
|
|
NM_000092.5(COL4A4):c.2057G>A (p.Gly686Asp)
|
rs1156323870
|
|
NM_000092.5(COL4A4):c.2060C>T (p.Pro687Leu)
|
|
|
NM_000092.5(COL4A4):c.2124A>T (p.Arg708Ser)
|
rs2150287552
|
|
NM_000092.5(COL4A4):c.2131A>G (p.Thr711Ala)
|
|
|
NM_000092.5(COL4A4):c.2135C>T (p.Pro712Leu)
|
|
|
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.2159C>T (p.Pro720Leu)
|
rs749186337
|
|
NM_000092.5(COL4A4):c.2164+13_2164+14insTTTGT
|
|
|
NM_000092.5(COL4A4):c.2164+8A>T
|
rs745682054
|
|
NM_000092.5(COL4A4):c.2165-4A>G
|
rs776551903
|
|
NM_000092.5(COL4A4):c.2174G>A (p.Gly725Asp)
|
rs2150277040
|
|
NM_000092.5(COL4A4):c.2189C>T (p.Pro730Leu)
|
|
|
NM_000092.5(COL4A4):c.2190G>A (p.Pro730=)
|
rs998610773
|
|
NM_000092.5(COL4A4):c.2191G>C (p.Gly731Arg)
|
|
|
NM_000092.5(COL4A4):c.2192G>T (p.Gly731Val)
|
rs1976367934
|
|
NM_000092.5(COL4A4):c.2195T>A (p.Phe732Tyr)
|
|
|
NM_000092.5(COL4A4):c.2208G>C (p.Lys736Asn)
|
rs1976364730
|
|
NM_000092.5(COL4A4):c.2218C>T (p.Pro740Ser)
|
|
|
NM_000092.5(COL4A4):c.2224G>A (p.Gly742Arg)
|
|
|
NM_000092.5(COL4A4):c.2246C>T (p.Ser749Leu)
|
|
|
NM_000092.5(COL4A4):c.226A>G (p.Ile76Val)
|
|
|
NM_000092.5(COL4A4):c.2285C>T (p.Pro762Leu)
|
|
|
NM_000092.5(COL4A4):c.232C>T (p.Pro78Ser)
|
rs762682812
|
|
NM_000092.5(COL4A4):c.2335C>G (p.Pro779Ala)
|
rs886055725
|
|
NM_000092.5(COL4A4):c.2335C>T (p.Pro779Ser)
|
|
|
NM_000092.5(COL4A4):c.2377G>A (p.Ala793Thr)
|
|
|
NM_000092.5(COL4A4):c.2383+2_2383+5dup
|
rs1553643488
|
|
NM_000092.5(COL4A4):c.2390C>G (p.Ala797Gly)
|
|
|
NM_000092.5(COL4A4):c.2402G>A (p.Gly801Glu)
|
|
|
NM_000092.5(COL4A4):c.2402G>T (p.Gly801Val)
|
rs200814061
|
|
NM_000092.5(COL4A4):c.2410G>A (p.Gly804Ser)
|
|
|
NM_000092.5(COL4A4):c.2428G>A (p.Gly810Ser)
|
rs1975763905
|
|
NM_000092.5(COL4A4):c.2432G>C (p.Arg811Thr)
|
|
|
NM_000092.5(COL4A4):c.2438G>A (p.Gly813Glu)
|
rs2150251009
|
|
NM_000092.5(COL4A4):c.2456G>T (p.Gly819Val)
|
rs1576189036
|
|
NM_000092.5(COL4A4):c.2459T>A (p.Val820Asp)
|
|
|
NM_000092.5(COL4A4):c.2474G>A (p.Gly825Asp)
|
|
|
NM_000092.5(COL4A4):c.2479T>C (p.Ser827Pro)
|
|
|
NM_000092.5(COL4A4):c.248G>A (p.Gly83Glu)
|
rs1559677316
|
|
NM_000092.5(COL4A4):c.2533C>T (p.Pro845Ser)
|
|
|
NM_000092.5(COL4A4):c.2585C>G (p.Pro862Arg)
|
|
|
NM_000092.5(COL4A4):c.2594del (p.Pro865fs)
|
rs2150235627
|
|
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.2624del (p.Pro875fs)
|
|
|
NM_000092.5(COL4A4):c.2628_2654dup (p.Arg877_Gly885dup)
|
rs1553641597
|
|
NM_000092.5(COL4A4):c.2629_2664dup (p.Gly888_Ile889insArgProGlyAlaHisGlyProProGlyLeuProGly)
|
|
|
NM_000092.5(COL4A4):c.2635G>A (p.Gly879Arg)
|
|
|
NM_000092.5(COL4A4):c.2639C>G (p.Ala880Gly)
|
|
|
NM_000092.5(COL4A4):c.263C>T (p.Ser88Leu)
|
|
|
NM_000092.5(COL4A4):c.2647C>A (p.Pro883Thr)
|
rs200761108
|
|
NM_000092.5(COL4A4):c.2647C>G (p.Pro883Ala)
|
|
|
NM_000092.5(COL4A4):c.2647C>T (p.Pro883Ser)
|
|
|
NM_000092.5(COL4A4):c.2651C>T (p.Pro884Leu)
|
|
|
NM_000092.5(COL4A4):c.2654G>A (p.Gly885Asp)
|
rs1425028482
|
|
NM_000092.5(COL4A4):c.2668C>G (p.Pro890Ala)
|
|
|
NM_000092.5(COL4A4):c.26T>C (p.Met9Thr)
|
|
|
NM_000092.5(COL4A4):c.2722C>T (p.Arg908Trp)
|
|
|
NM_000092.5(COL4A4):c.2726G>T (p.Gly909Val)
|
|
|
NM_000092.5(COL4A4):c.273A>G (p.Lys91=)
|
|
|
NM_000092.5(COL4A4):c.275G>A (p.Gly92Glu)
|
rs2125036772
|
|
NM_000092.5(COL4A4):c.2766G>C (p.Lys922Asn)
|
|
|
NM_000092.5(COL4A4):c.2776G>A (p.Glu926Lys)
|
|
|
NM_000092.5(COL4A4):c.2782_2799del (p.Cys928_Gly933del)
|
|
|
NM_000092.5(COL4A4):c.2788G>A (p.Gly930Ser)
|
|
|
NM_000092.5(COL4A4):c.2803C>A (p.Pro935Thr)
|
|
|
NM_000092.5(COL4A4):c.2842G>A (p.Gly948Arg)
|
|
|
NM_000092.5(COL4A4):c.2846T>C (p.Leu949Pro)
|
|
|
NM_000092.5(COL4A4):c.2860G>A (p.Gly954Arg)
|
rs2150219187
|
|
NM_000092.5(COL4A4):c.2869G>A (p.Gly957Arg)
|
rs1402343399
|
|
NM_000092.5(COL4A4):c.289C>T (p.Arg97Cys)
|
|
|
NM_000092.5(COL4A4):c.2932G>C (p.Gly978Arg)
|
|
|
NM_000092.5(COL4A4):c.2956C>T (p.Pro986Ser)
|
rs1576142052
|
|
NM_000092.5(COL4A4):c.2963A>G (p.Glu988Gly)
|
rs1200638480
|
|
NM_000092.5(COL4A4):c.2971G>C (p.Asp991His)
|
|
|
NM_000092.5(COL4A4):c.2977G>A (p.Gly993Arg)
|
|
|
NM_000092.5(COL4A4):c.2986G>T (p.Gly996Trp)
|
|
|
NM_000092.5(COL4A4):c.3018A>T (p.Arg1006Ser)
|
rs531161419
|
|
NM_000092.5(COL4A4):c.3029C>T (p.Pro1010Leu)
|
|
|
NM_000092.5(COL4A4):c.304G>A (p.Ala102Thr)
|
|
|
NM_000092.5(COL4A4):c.3055G>A (p.Glu1019Lys)
|
|
|
NM_000092.5(COL4A4):c.3055G>C (p.Glu1019Gln)
|
rs1057518854
|
|
NM_000092.5(COL4A4):c.3061G>C (p.Gly1021Arg)
|
|
|
NM_000092.5(COL4A4):c.3070G>T (p.Gly1024Trp)
|
rs2150182132
|
|
NM_000092.5(COL4A4):c.3073CCT[3] (p.Pro1026_Gly1027insPro)
|
|
|
NM_000092.5(COL4A4):c.3083C>T (p.Pro1028Leu)
|
rs1403780482
|
|
NM_000092.5(COL4A4):c.3085C>T (p.Pro1029Ser)
|
|
|
NM_000092.5(COL4A4):c.3089G>C (p.Gly1030Ala)
|
|
|
NM_000092.5(COL4A4):c.3089G>T (p.Gly1030Val)
|
rs772699709
|
|
NM_000092.5(COL4A4):c.3103A>G (p.Thr1035Ala)
|
rs1553638898
|
|
NM_000092.5(COL4A4):c.3115G>A (p.Gly1039Arg)
|
|
|
NM_000092.5(COL4A4):c.3120C>A (p.Phe1040Leu)
|
|
|
NM_000092.5(COL4A4):c.313G>A (p.Asp105Asn)
|
|
|
NM_000092.5(COL4A4):c.3145G>A (p.Asp1049Asn)
|
|
|
NM_000092.5(COL4A4):c.3152G>C (p.Gly1051Ala)
|
|
|
NM_000092.5(COL4A4):c.3152G>T (p.Gly1051Val)
|
|
|
NM_000092.5(COL4A4):c.3167C>T (p.Pro1056Leu)
|
|
|
NM_000092.5(COL4A4):c.317A>G (p.Lys106Arg)
|
|
|
NM_000092.5(COL4A4):c.3196G>C (p.Gly1066Arg)
|
rs1333536476
|
|
NM_000092.5(COL4A4):c.3200C>T (p.Ala1067Val)
|
rs1392922149
|
|
NM_000092.5(COL4A4):c.3206G>A (p.Gly1069Glu)
|
rs2150172344
|
|
NM_000092.5(COL4A4):c.3228C>A (p.Asp1076Glu)
|
|
|
NM_000092.5(COL4A4):c.3263G>A (p.Gly1088Asp)
|
rs2150149041
|
|
NM_000092.5(COL4A4):c.3278C>A (p.Pro1093His)
|
|
|
NM_000092.5(COL4A4):c.3289+5A>G
|
|
|
NM_000092.5(COL4A4):c.3301G>T (p.Ala1101Ser)
|
rs2150103907
|
|
NM_000092.5(COL4A4):c.3304T>A (p.Ser1102Thr)
|
|
|
NM_000092.5(COL4A4):c.3309A>C (p.Gly1103=)
|
|
|
NM_000092.5(COL4A4):c.3317G>T (p.Gly1106Val)
|
|
|
NM_000092.5(COL4A4):c.332C>T (p.Pro111Leu)
|
|
|
NM_000092.5(COL4A4):c.3331C>A (p.Gln1111Lys)
|
|
|
NM_000092.5(COL4A4):c.3349C>A (p.Pro1117Thr)
|
rs1971792084
|
|
NM_000092.5(COL4A4):c.3349C>T (p.Pro1117Ser)
|
|
|
NM_000092.5(COL4A4):c.334A>G (p.Thr112Ala)
|
rs1649155828
|
|
NM_000092.5(COL4A4):c.3357G>C (p.Arg1119Ser)
|
|
|
NM_000092.5(COL4A4):c.3358C>T (p.Pro1120Ser)
|
|
|
NM_000092.5(COL4A4):c.3374C>T (p.Ser1125Phe)
|
rs766044583
|
|
NM_000092.5(COL4A4):c.3386C>G (p.Pro1129Arg)
|
|
|
NM_000092.5(COL4A4):c.3397G>T (p.Gly1133Cys)
|
|
|
NM_000092.5(COL4A4):c.3407G>C (p.Gly1136Ala)
|
|
|
NM_000092.5(COL4A4):c.3447C>A (p.Asp1149Glu)
|
|
|
NM_000092.5(COL4A4):c.3460G>A (p.Gly1154Ser)
|
rs2150094978
|
|
NM_000092.5(COL4A4):c.3461G>A (p.Gly1154Asp)
|
|
|
NM_000092.5(COL4A4):c.347G>A (p.Gly116Glu)
|
rs1553696235
|
|
NM_000092.5(COL4A4):c.3488G>A (p.Gly1163Asp)
|
rs1559480099
|
|
NM_000092.5(COL4A4):c.3488G>T (p.Gly1163Val)
|
rs1559480099
|
|
NM_000092.5(COL4A4):c.352C>T (p.Pro118Ser)
|
|
|
NM_000092.5(COL4A4):c.354A>G (p.Pro118=)
|
rs1432438341
|
|
NM_000092.5(COL4A4):c.3557A>G (p.Lys1186Arg)
|
|
|
NM_000092.5(COL4A4):c.3577G>T (p.Gly1193Cys)
|
rs1158350974
|
|
NM_000092.5(COL4A4):c.3584ATG[1] (p.Asp1196del)
|
rs780991255
|
|
NM_000092.5(COL4A4):c.361G>A (p.Asp121Asn)
|
|
|
NM_000092.5(COL4A4):c.3631G>A (p.Glu1211Lys)
|
|
|
NM_000092.5(COL4A4):c.3638G>A (p.Gly1213Glu)
|
|
|
NM_000092.5(COL4A4):c.3643C>G (p.Pro1215Ala)
|
|
|
NM_000092.5(COL4A4):c.3650G>T (p.Ser1217Ile)
|
|
|
NM_000092.5(COL4A4):c.3667C>T (p.Pro1223Ser)
|
rs771575941
|
|
NM_000092.5(COL4A4):c.3668C>T (p.Pro1223Leu)
|
|
|
NM_000092.5(COL4A4):c.3676C>T (p.Arg1226Cys)
|
|
|
NM_000092.5(COL4A4):c.3679G>A (p.Gly1227Arg)
|
rs1968570122
|
|
NM_000092.5(COL4A4):c.3689G>A (p.Gly1230Asp)
|
|
|
NM_000092.5(COL4A4):c.3696A>G (p.Pro1232=)
|
rs1968564790
|
|
NM_000092.5(COL4A4):c.3716G>C (p.Gly1239Ala)
|
|
|
NM_000092.5(COL4A4):c.3716G>T (p.Gly1239Val)
|
rs1394140383
|
|
NM_000092.5(COL4A4):c.3730G>A (p.Ala1244Thr)
|
|
|
NM_000092.5(COL4A4):c.3736G>A (p.Ala1246Thr)
|
rs2149978588
|
|
NM_000092.5(COL4A4):c.3738C>T (p.Ala1246=)
|
rs2149978554
|
|
NM_000092.5(COL4A4):c.373G>C (p.Gly125Arg)
|
rs2061619888
|
|
NM_000092.5(COL4A4):c.3751C>A (p.Pro1251Thr)
|
|
|
NM_000092.5(COL4A4):c.3754A>G (p.Lys1252Glu)
|
|
|
NM_000092.5(COL4A4):c.3761T>C (p.Ile1254Thr)
|
rs1575916161
|
|
NM_000092.5(COL4A4):c.3769C>T (p.Pro1257Ser)
|
|
|
NM_000092.5(COL4A4):c.3770C>T (p.Pro1257Leu)
|
rs755884665
|
|
NM_000092.5(COL4A4):c.3773G>A (p.Gly1258Asp)
|
rs1968521797
|
|
NM_000092.5(COL4A4):c.3781G>A (p.Gly1261Arg)
|
|
|
NM_000092.5(COL4A4):c.3796C>T (p.Pro1266Ser)
|
rs267599226
|
|
NM_000092.5(COL4A4):c.3802C>T (p.Pro1268Ser)
|
|
|
NM_000092.5(COL4A4):c.3816A>T (p.Arg1272Ser)
|
|
|
NM_000092.5(COL4A4):c.3817G>A (p.Gly1273Arg)
|
|
|
NM_000092.5(COL4A4):c.3829C>T (p.Pro1277Ser)
|
rs1037084154
|
|
NM_000092.5(COL4A4):c.3844G>T (p.Gly1282Trp)
|
rs777134408
|
|
NM_000092.5(COL4A4):c.3848G>T (p.Ser1283Ile)
|
|
|
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.3923C>G (p.Pro1308Arg)
|
|
|
NM_000092.5(COL4A4):c.3961G>C (p.Asp1321His)
|
rs1326584789
|
|
NM_000092.5(COL4A4):c.3973+17G>A
|
|
|
NM_000092.5(COL4A4):c.3974-14T>C
|
rs1427442513
|
|
NM_000092.5(COL4A4):c.3974G>A (p.Gly1325Glu)
|
|
|
NM_000092.5(COL4A4):c.3976C>A (p.Pro1326Thr)
|
rs754359129
|
|
NM_000092.5(COL4A4):c.3983G>C (p.Gly1328Ala)
|
rs1553624173
|
|
NM_000092.5(COL4A4):c.3986T>C (p.Phe1329Ser)
|
|
|
NM_000092.5(COL4A4):c.4003C>G (p.Pro1335Ala)
|
rs1331634432
|
|
NM_000092.5(COL4A4):c.4035G>C (p.Lys1345Asn)
|
rs1369617472
|
|
NM_000092.5(COL4A4):c.4036G>A (p.Gly1346Ser)
|
|
|
NM_000092.5(COL4A4):c.4037G>T (p.Gly1346Val)
|
|
|
NM_000092.5(COL4A4):c.4041A>T (p.Leu1347Phe)
|
rs16823077
|
|
NM_000092.5(COL4A4):c.4051C>G (p.Pro1351Ala)
|
|
|
NM_000092.5(COL4A4):c.4058G>A (p.Arg1353Lys)
|
rs747708741
|
|
NM_000092.5(COL4A4):c.4063G>A (p.Gly1355Arg)
|
rs1553624029
|
|
NM_000092.5(COL4A4):c.4067C>T (p.Pro1356Leu)
|
|
|
NM_000092.5(COL4A4):c.4079C>T (p.Pro1360Leu)
|
|
|
NM_000092.5(COL4A4):c.4081+14C>T
|
rs1553623984
|
|
NM_000092.5(COL4A4):c.4091-12T>C
|
|
|
NM_000092.5(COL4A4):c.4095A>G (p.Glu1365=)
|
rs1966135663
|
|
NM_000092.5(COL4A4):c.4096C>T (p.Pro1366Ser)
|
|
|
NM_000092.5(COL4A4):c.409G>A (p.Gly137Ser)
|
|
|
NM_000092.5(COL4A4):c.4139G>A (p.Gly1380Asp)
|
|
|
NM_000092.5(COL4A4):c.4141C>T (p.Leu1381Phe)
|
|
|
NM_000092.5(COL4A4):c.4142T>C (p.Leu1381Pro)
|
|
|
NM_000092.5(COL4A4):c.4153C>T (p.Pro1385Ser)
|
rs2149853379
|
|
NM_000092.5(COL4A4):c.4163G>A (p.Arg1388Lys)
|
|
|
NM_000092.5(COL4A4):c.4165G>A (p.Gly1389Arg)
|
|
|
NM_000092.5(COL4A4):c.4216+4T>C
|
|
|
NM_000092.5(COL4A4):c.4232C>G (p.Pro1411Arg)
|
|
|
NM_000092.5(COL4A4):c.4235G>A (p.Gly1412Glu)
|
|
|
NM_000092.5(COL4A4):c.4238T>G (p.Leu1413Arg)
|
|
|
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.4315G>A (p.Gly1439Ser)
|
|
|
NM_000092.5(COL4A4):c.4330C>A (p.Pro1444Thr)
|
|
|
NM_000092.5(COL4A4):c.4333+6G>T
|
|
|
NM_000092.5(COL4A4):c.4346C>G (p.Pro1449Arg)
|
|
|
NM_000092.5(COL4A4):c.4349T>A (p.Ile1450Asn)
|
rs72969704
|
|
NM_000092.5(COL4A4):c.4358C>T (p.Pro1453Leu)
|
rs2149745307
|
|
NM_000092.5(COL4A4):c.4363C>A (p.Pro1455Thr)
|
|
|
NM_000092.5(COL4A4):c.4367A>G (p.Lys1456Arg)
|
rs770419378
|
|
NM_000092.5(COL4A4):c.436G>A (p.Gly146Ser)
|
rs886055729
|
|
NM_000092.5(COL4A4):c.4372T>C (p.Phe1458Leu)
|
|
|
NM_000092.5(COL4A4):c.4376G>T (p.Gly1459Val)
|
|
|
NM_000092.5(COL4A4):c.4378C>T (p.Pro1460Ser)
|
|
|
NM_000092.5(COL4A4):c.4396T>C (p.Phe1466Leu)
|
|
|
NM_000092.5(COL4A4):c.4415G>A (p.Ser1472Asn)
|
rs2149744588
|
|
NM_000092.5(COL4A4):c.4432C>T (p.Pro1478Ser)
|
|
|
NM_000092.5(COL4A4):c.443C>G (p.Pro148Arg)
|
|
|
NM_000092.5(COL4A4):c.443C>T (p.Pro148Leu)
|
|
|
NM_000092.5(COL4A4):c.4440C>G (p.Cys1480Trp)
|
rs774471575
|
|
NM_000092.5(COL4A4):c.446G>T (p.Gly149Val)
|
rs374815903
|
|
NM_000092.5(COL4A4):c.4472A>G (p.Tyr1491Cys)
|
rs1553613772
|
|
NM_000092.5(COL4A4):c.4498G>A (p.Glu1500Lys)
|
|
|
NM_000092.5(COL4A4):c.4519C>T (p.Leu1507Phe)
|
|
|
NM_000092.5(COL4A4):c.4522+4T>G
|
rs1963375507
|
|
NM_000092.5(COL4A4):c.4538G>A (p.Cys1513Tyr)
|
rs1962651394
|
|
NM_000092.5(COL4A4):c.4544C>T (p.Pro1515Leu)
|
|
|
NM_000092.5(COL4A4):c.4550T>C (p.Phe1517Ser)
|
rs1575697378
|
|
NM_000092.5(COL4A4):c.4550T>G (p.Phe1517Cys)
|
|
|
NM_000092.5(COL4A4):c.4555A>C (p.Thr1519Pro)
|
|
|
NM_000092.5(COL4A4):c.4556C>T (p.Thr1519Met)
|
|
|
NM_000092.5(COL4A4):c.4562C>G (p.Pro1521Arg)
|
rs1222616093
|
|
NM_000092.5(COL4A4):c.4594C>A (p.His1532Asn)
|
rs1962633158
|
|
NM_000092.5(COL4A4):c.4607G>T (p.Arg1536Ile)
|
|
|
NM_000092.5(COL4A4):c.4610A>G (p.Asn1537Ser)
|
|
|
NM_000092.5(COL4A4):c.4636G>A (p.Ala1546Thr)
|
|
|
NM_000092.5(COL4A4):c.4642C>T (p.Pro1548Ser)
|
|
|
NM_000092.5(COL4A4):c.4660C>T (p.Leu1554Phe)
|
rs1962599188
|
|
NM_000092.5(COL4A4):c.4664C>T (p.Ser1555Phe)
|
rs2149721513
|
|
NM_000092.5(COL4A4):c.4688T>G (p.Val1563Gly)
|
rs2149721235
|
|
NM_000092.5(COL4A4):c.4720C>A (p.Gln1574Lys)
|
|
|
NM_000092.5(COL4A4):c.4724C>A (p.Ala1575Glu)
|
|
|
NM_000092.5(COL4A4):c.4724C>T (p.Ala1575Val)
|
|
|
NM_000092.5(COL4A4):c.4730_4732del (p.Ala1577del)
|
rs1559395809
|
|
NM_000092.5(COL4A4):c.4741_4744delinsAAGA (p.Gln1581_Asp1582delinsLysAsn)
|
rs2149720398
|
|
NM_000092.5(COL4A4):c.4760C>G (p.Pro1587Arg)
|
rs190148408
|
|
NM_000092.5(COL4A4):c.4760C>T (p.Pro1587Leu)
|
rs190148408
|
|
NM_000092.5(COL4A4):c.4762T>A (p.Cys1588Ser)
|
|
|
NM_000092.5(COL4A4):c.4762T>C (p.Cys1588Arg)
|
|
|
NM_000092.5(COL4A4):c.4763G>A (p.Cys1588Tyr)
|
|
|
NM_000092.5(COL4A4):c.4764T>G (p.Cys1588Trp)
|
|
|
NM_000092.5(COL4A4):c.4778G>A (p.Arg1593Lys)
|
|
|
NM_000092.5(COL4A4):c.477AGG[3] (p.Gly161dup)
|
rs1553695272
|
|
NM_000092.5(COL4A4):c.4781_4807dup (p.Ser1594_Leu1602dup)
|
rs2149719615
|
|
NM_000092.5(COL4A4):c.4782C>G (p.Ser1594Arg)
|
rs200799557
|
|
NM_000092.5(COL4A4):c.4784T>C (p.Leu1595Pro)
|
|
|
NM_000092.5(COL4A4):c.4809+6T>A
|
rs1469771734
|
|
NM_000092.5(COL4A4):c.4830AGG[2] (p.Gly1613del)
|
rs768416358
|
|
NM_000092.5(COL4A4):c.4840C>A (p.Gln1614Lys)
|
|
|
NM_000092.5(COL4A4):c.4851G>C (p.Met1617Ile)
|
|
|
NM_000092.5(COL4A4):c.489+6A>G
|
|
|
NM_000092.5(COL4A4):c.490-5T>G
|
|
|
NM_000092.5(COL4A4):c.4916G>A (p.Gly1639Glu)
|
|
|
NM_000092.5(COL4A4):c.494A>C (p.His165Pro)
|
rs1395435419
|
|
NM_000092.5(COL4A4):c.5007del (p.Thr1669_Leu1670insTer)
|
rs1308677161
|
|
NM_000092.5(COL4A4):c.5030G>A (p.Arg1677His)
|
|
|
NM_000092.5(COL4A4):c.508G>A (p.Gly170Arg)
|
|
|
NM_000092.5(COL4A4):c.517G>A (p.Gly173Arg)
|
|
|
NM_000092.5(COL4A4):c.558+5G>A
|
|
|
NM_000092.5(COL4A4):c.559-9T>G
|
rs1393612363
|
|
NM_000092.5(COL4A4):c.559G>A (p.Gly187Arg)
|
|
|
NM_000092.5(COL4A4):c.592C>T (p.Pro198Ser)
|
rs1039244540
|
|
NM_000092.5(COL4A4):c.596G>C (p.Gly199Ala)
|
|
|
NM_000092.5(COL4A4):c.619G>A (p.Ala207Thr)
|
|
|
NM_000092.5(COL4A4):c.635A>T (p.Tyr212Phe)
|
|
|
NM_000092.5(COL4A4):c.645G>A (p.Glu215=)
|
rs2061038127
|
|
NM_000092.5(COL4A4):c.645G>C (p.Glu215Asp)
|
|
|
NM_000092.5(COL4A4):c.674C>G (p.Pro225Arg)
|
|
|
NM_000092.5(COL4A4):c.679C>T (p.Arg227Cys)
|
|
|
NM_000092.5(COL4A4):c.680G>A (p.Arg227His)
|
rs368248078
|
|
NM_000092.5(COL4A4):c.680G>C (p.Arg227Pro)
|
|
|
NM_000092.5(COL4A4):c.713T>C (p.Val238Ala)
|
|
|
NM_000092.5(COL4A4):c.72-3T>C
|
|
|
NM_000092.5(COL4A4):c.728G>A (p.Gly243Glu)
|
|
|
NM_000092.5(COL4A4):c.735+4A>G
|
|
|
NM_000092.5(COL4A4):c.735G>C (p.Pro245=)
|
rs923865420
|
|
NM_000092.5(COL4A4):c.736-13dup
|
rs750699545
|
|
NM_000092.5(COL4A4):c.736-4del
|
rs750699545
|
|
NM_000092.5(COL4A4):c.737G>C (p.Gly246Ala)
|
rs1559631986
|
|
NM_000092.5(COL4A4):c.73T>G (p.Ser25Ala)
|
rs2125348343
|
|
NM_000092.5(COL4A4):c.764G>A (p.Gly255Glu)
|
rs2060673481
|
|
NM_000092.5(COL4A4):c.766C>T (p.Pro256Ser)
|
rs773445256
|
|
NM_000092.5(COL4A4):c.803A>G (p.Tyr268Cys)
|
|
|
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.818G>T (p.Gly273Val)
|
|
|
NM_000092.5(COL4A4):c.819_821dup (p.Ile274_Lys275insIle)
|
|
|
NM_000092.5(COL4A4):c.81_86del (p.27IL[1])
|
rs771943519
|
|
NM_000092.5(COL4A4):c.841G>T (p.Val281Phe)
|
|
|
NM_000092.5(COL4A4):c.843T>C (p.Val281=)
|
rs1335068296
|
|
NM_000092.5(COL4A4):c.846A>C (p.Gly282=)
|
rs553087192
|
|
NM_000092.5(COL4A4):c.847C>A (p.Leu283Met)
|
rs2060622187
|
|
NM_000092.5(COL4A4):c.854G>A (p.Gly285Glu)
|
rs2060621902
|
|
NM_000092.5(COL4A4):c.866G>A (p.Arg289His)
|
|
|
NM_000092.5(COL4A4):c.870+3A>G
|
|
|
NM_000092.5(COL4A4):c.870G>A (p.Lys290=)
|
rs2060620860
|
|
NM_000092.5(COL4A4):c.871-2dup
|
|
|
NM_000092.5(COL4A4):c.879T>A (p.Ser293=)
|
rs2150788345
|
|
NM_000092.5(COL4A4):c.881G>T (p.Gly294Val)
|
|
|
NM_000092.5(COL4A4):c.895G>A (p.Gly299Arg)
|
|
|
NM_000092.5(COL4A4):c.901A>G (p.Lys301Glu)
|
|
|
NM_000092.5(COL4A4):c.904G>T (p.Gly302Cys)
|
rs2150787894
|
|
NM_000092.5(COL4A4):c.905G>C (p.Gly302Ala)
|
|
|
NM_000092.5(COL4A4):c.905G>T (p.Gly302Val)
|
rs777687210
|
|
NM_000092.5(COL4A4):c.913G>A (p.Gly305Arg)
|
rs1045939403
|
|
NM_000092.5(COL4A4):c.919C>A (p.Pro307Thr)
|
|
|
NM_000092.5(COL4A4):c.930+4A>G
|
rs2150787463
|
|
NM_000092.5(COL4A4):c.930+5G>A
|
|
|
NM_000092.5(COL4A4):c.931-18dup
|
rs746509796
|
|
NM_000092.5(COL4A4):c.953C>T (p.Ser318Phe)
|
|
|
NM_000092.5(COL4A4):c.958G>A (p.Gly320Ser)
|
|
|
NM_000092.5(COL4A4):c.962T>C (p.Phe321Ser)
|
|
|
NM_000092.5(COL4A4):c.975+3A>G
|
|
|
NM_000092.5(COL4A4):c.976-3T>C
|
|
|
NM_000092.5(COL4A4):c.985G>A (p.Gly329Arg)
|
|
|