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_000091.5(COL4A3):c.*969G>A
|
rs188150740
|
0.00620
|
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_000091.5(COL4A3):c.3325C>T (p.Pro1109Ser)
|
rs55816283
|
0.00412
|
NM_000091.5(COL4A3):c.3258G>A (p.Gly1086=)
|
rs147085074
|
0.00385
|
NM_000091.5(COL4A3):c.4893C>T (p.Phe1631=)
|
rs183218622
|
0.00344
|
NM_000092.5(COL4A4):c.2630G>A (p.Arg877Gln)
|
rs150979437
|
0.00274
|
NM_000091.5(COL4A3):c.2475G>C (p.Leu825Phe)
|
rs192027050
|
0.00262
|
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro)
|
rs200302125
|
0.00257
|
NM_000092.5(COL4A4):c.*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_000091.5(COL4A3):c.-13G>C
|
rs770803750
|
0.00217
|
NM_000092.5(COL4A4):c.4090+14T>C
|
rs147376687
|
0.00207
|
NM_000091.5(COL4A3):c.*647T>G
|
rs183552783
|
0.00206
|
NM_000092.5(COL4A4):c.*3269A>G
|
rs185029960
|
0.00188
|
NM_000091.5(COL4A3):c.3566-9T>C
|
rs147886850
|
0.00184
|
NM_000092.5(COL4A4):c.*705T>C
|
rs150289717
|
0.00176
|
NM_000092.5(COL4A4):c.*2647C>T
|
rs139204655
|
0.00161
|
NM_000091.5(COL4A3):c.4445C>T (p.Ala1482Val)
|
rs199755408
|
0.00159
|
NM_000091.5(COL4A3):c.*1322T>A
|
rs115338903
|
0.00158
|
NM_000091.5(COL4A3):c.4756-13A>T
|
rs190701197
|
0.00135
|
NM_000091.5(COL4A3):c.112C>G (p.Gln38Glu)
|
rs201607115
|
0.00132
|
NM_000091.5(COL4A3):c.3939G>A (p.Gly1313=)
|
rs141552752
|
0.00121
|
NM_000092.5(COL4A4):c.*4004_*4005del
|
rs532937469
|
0.00119
|
NM_033380.3(COL4A5):c.2858G>T (p.Gly953Val)
|
rs78972735
|
0.00119
|
NM_000092.4(COL4A4):c.-555G>A
|
rs79908084
|
0.00118
|
NM_000091.5(COL4A3):c.1483C>T (p.His495Tyr)
|
rs200510532
|
0.00110
|
NM_000092.5(COL4A4):c.1819G>A (p.Ala607Thr)
|
rs75539253
|
0.00109
|
NM_000091.5(COL4A3):c.1886C>T (p.Thr629Met)
|
rs139361545
|
0.00107
|
NM_000092.5(COL4A4):c.*4173A>T
|
rs529259159
|
0.00086
|
NM_000091.5(COL4A3):c.4295G>A (p.Arg1432His)
|
rs200509072
|
0.00080
|
NM_000091.5(COL4A3):c.573T>C (p.Pro191=)
|
rs375503109
|
0.00078
|
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_000091.5(COL4A3):c.*1764A>G
|
rs577379452
|
0.00071
|
NM_000091.5(COL4A3):c.274G>C (p.Val92Leu)
|
rs200873401
|
0.00070
|
NM_000092.5(COL4A4):c.*3410_*3411del
|
rs528949461
|
0.00068
|
NM_000091.5(COL4A3):c.136G>A (p.Gly46Arg)
|
rs200866082
|
0.00067
|
NM_000092.5(COL4A4):c.*3639T>C
|
rs193239835
|
0.00063
|
NM_000091.5(COL4A3):c.2489-8G>A
|
rs201846272
|
0.00061
|
NM_000091.5(COL4A3):c.4494C>G (p.Thr1498=)
|
rs200454769
|
0.00058
|
NM_000092.5(COL4A4):c.3989C>T (p.Pro1330Leu)
|
rs201578201
|
0.00054
|
NM_000092.5(COL4A4):c.*4545A>G
|
rs569924185
|
0.00052
|
NM_000092.5(COL4A4):c.3654A>G (p.Pro1218=)
|
rs369708146
|
0.00050
|
NM_000091.5(COL4A3):c.1516G>A (p.Ala506Thr)
|
rs188967260
|
0.00048
|
NM_000092.5(COL4A4):c.2241C>T (p.Pro747=)
|
rs374510402
|
0.00048
|
NM_000091.5(COL4A3):c.829-15C>T
|
rs201021733
|
0.00046
|
NM_000092.5(COL4A4):c.*3467C>G
|
rs752632630
|
0.00046
|
NM_000092.5(COL4A4):c.1353C>T (p.Gly451=)
|
rs199511948
|
0.00044
|
NM_000092.5(COL4A4):c.*1064G>C
|
rs560936685
|
0.00043
|
NM_000092.5(COL4A4):c.1205-9A>G
|
rs370706928
|
0.00043
|
NM_000091.5(COL4A3):c.-10C>T
|
rs781380101
|
0.00039
|
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys)
|
rs201697532
|
0.00039
|
NM_000092.5(COL4A4):c.2383+7G>A
|
rs182406906
|
0.00039
|
NM_033380.3(COL4A5):c.2510-33A>G
|
rs104886358
|
0.00039
|
NM_000092.5(COL4A4):c.*3712T>G
|
rs535103151
|
0.00038
|
NM_000092.5(COL4A4):c.4349T>C (p.Ile1450Thr)
|
rs72969704
|
0.00038
|
NM_000091.5(COL4A3):c.1505-12G>A
|
rs114658110
|
0.00036
|
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser)
|
rs190598500
|
0.00035
|
NM_033380.3(COL4A5):c.2215C>G (p.Pro739Ala)
|
rs104886164
|
0.00034
|
NM_000092.5(COL4A4):c.-134C>G
|
rs530247030
|
0.00033
|
NM_000091.5(COL4A3):c.3270A>C (p.Pro1090=)
|
rs201989155
|
0.00032
|
NM_000092.5(COL4A4):c.*1464A>T
|
rs573508041
|
0.00032
|
NM_000092.5(COL4A4):c.3108T>C (p.Gly1036=)
|
rs201962241
|
0.00030
|
NM_000092.5(COL4A4):c.541G>T (p.Ala181Ser)
|
rs200707549
|
0.00030
|
NM_000092.5(COL4A4):c.*3397T>C
|
rs531406341
|
0.00027
|
NM_000092.5(COL4A4):c.*3876G>A
|
rs184473858
|
0.00026
|
NM_000092.5(COL4A4):c.1435G>C (p.Gly479Arg)
|
rs202210475
|
0.00026
|
NM_000091.5(COL4A3):c.3182G>A (p.Gly1061Asp)
|
rs202078295
|
0.00025
|
NM_000091.5(COL4A3):c.221C>T (p.Pro74Leu)
|
rs373975901
|
0.00024
|
NM_000091.5(COL4A3):c.4510T>C (p.Phe1504Leu)
|
rs201671013
|
0.00024
|
NM_000092.5(COL4A4):c.*2069T>C
|
rs886055710
|
0.00023
|
NM_000092.5(COL4A4):c.*569C>A
|
rs772402371
|
0.00023
|
NM_000091.5(COL4A3):c.4523A>G (p.Asn1508Ser)
|
rs200512461
|
0.00022
|
NM_000091.5(COL4A3):c.3945A>G (p.Pro1315=)
|
rs189574905
|
0.00021
|
NM_000092.5(COL4A4):c.2144C>T (p.Ala715Val)
|
rs76636743
|
0.00021
|
NM_000092.5(COL4A4):c.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_000091.5(COL4A3):c.-26G>T
|
rs747049729
|
0.00019
|
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_033380.3(COL4A5):c.2692A>G (p.Met898Val)
|
rs104886192
|
0.00017
|
NM_000091.5(COL4A3):c.1310C>T (p.Pro437Leu)
|
rs148686474
|
0.00016
|
NM_000092.5(COL4A4):c.1055C>T (p.Pro352Leu)
|
rs371717486
|
0.00016
|
NM_000092.5(COL4A4):c.4924C>T (p.His1642Tyr)
|
rs200450557
|
0.00016
|
NM_000092.5(COL4A4):c.2430C>G (p.Gly810=)
|
rs769363556
|
0.00015
|
NM_000091.5(COL4A3):c.*406G>A
|
rs759265728
|
0.00014
|
NM_000091.5(COL4A3):c.3751+7G>A
|
rs750554079
|
0.00014
|
NM_000092.5(COL4A4):c.*1171C>T
|
rs545148830
|
0.00014
|
NM_000092.5(COL4A4):c.*3159C>A
|
rs559222889
|
0.00014
|
NM_000092.5(COL4A4):c.*883C>G
|
rs952959654
|
0.00014
|
NM_000092.5(COL4A4):c.2840G>A (p.Arg947Gln)
|
rs373540400
|
0.00014
|
NM_000092.5(COL4A4):c.4982T>A (p.Phe1661Tyr)
|
rs374119389
|
0.00014
|
NM_000091.5(COL4A3):c.688-8G>T
|
rs748843785
|
0.00013
|
NM_033380.3(COL4A5):c.3958C>T (p.Pro1320Ser)
|
rs754836509
|
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_033380.3(COL4A5):c.488T>C (p.Met163Thr)
|
rs142503631
|
0.00012
|
NM_000091.5(COL4A3):c.1790C>T (p.Pro597Leu)
|
rs781163705
|
0.00011
|
NM_000091.5(COL4A3):c.3227C>T (p.Pro1076Leu)
|
rs200984988
|
0.00011
|
NM_000091.5(COL4A3):c.3419-8T>G
|
rs754483986
|
0.00011
|
NM_000091.5(COL4A3):c.3644G>A (p.Arg1215Gln)
|
rs200443942
|
0.00011
|
NM_000091.5(COL4A3):c.3882+10G>A
|
rs78980950
|
0.00011
|
NM_000091.5(COL4A3):c.685C>T (p.Arg229Trp)
|
rs759074046
|
0.00011
|
NM_000092.5(COL4A4):c.338G>A (p.Gly113Asp)
|
rs766085522
|
0.00011
|
NM_000092.5(COL4A4):c.771C>T (p.Thr257=)
|
rs372387985
|
0.00011
|
NM_000091.5(COL4A3):c.2887G>A (p.Ala963Thr)
|
rs200801946
|
0.00010
|
NM_000092.5(COL4A4):c.*2422T>C
|
rs892108516
|
0.00010
|
NM_000092.5(COL4A4):c.*2945T>C
|
rs886055707
|
0.00010
|
NM_033380.3(COL4A5):c.4087+6A>T
|
rs748429212
|
0.00010
|
NM_000091.5(COL4A3):c.25C>T (p.Pro9Ser)
|
rs890999119
|
0.00009
|
NM_000091.5(COL4A3):c.260C>T (p.Thr87Met)
|
rs377136253
|
0.00009
|
NM_000091.5(COL4A3):c.2636C>T (p.Pro879Leu)
|
rs368342782
|
0.00009
|
NM_000091.5(COL4A3):c.3196C>T (p.Pro1066Ser)
|
rs377003650
|
0.00009
|
NM_000091.5(COL4A3):c.494T>C (p.Ile165Thr)
|
rs144036466
|
0.00009
|
NM_000092.4(COL4A4):c.-641G>A
|
rs1003987615
|
0.00009
|
NM_000092.5(COL4A4):c.15C>T (p.His5=)
|
rs199504524
|
0.00009
|
NM_000092.5(COL4A4):c.1664C>T (p.Ala555Val)
|
rs371066387
|
0.00009
|
NM_000092.5(COL4A4):c.2171G>A (p.Arg724His)
|
rs200146486
|
0.00009
|
NM_000092.5(COL4A4):c.3995C>T (p.Pro1332Leu)
|
rs200860702
|
0.00009
|
NM_000091.5(COL4A3):c.3755C>T (p.Ala1252Val)
|
rs761179248
|
0.00008
|
NM_000091.5(COL4A3):c.63G>A (p.Leu21=)
|
rs1036829250
|
0.00008
|
NM_000092.5(COL4A4):c.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_033380.3(COL4A5):c.1768A>G (p.Lys590Glu)
|
rs368137679
|
0.00008
|
NM_033380.3(COL4A5):c.2572C>A (p.Pro858Thr)
|
rs147220200
|
0.00008
|
NM_033380.3(COL4A5):c.4246C>T (p.Arg1416Cys)
|
rs104886270
|
0.00008
|
NM_000091.5(COL4A3):c.*1639G>A
|
rs950432432
|
0.00007
|
NM_000091.5(COL4A3):c.11G>A (p.Arg4Gln)
|
rs921905047
|
0.00007
|
NM_000091.5(COL4A3):c.1802C>T (p.Pro601Leu)
|
rs369567469
|
0.00007
|
NM_000091.5(COL4A3):c.3395C>A (p.Pro1132His)
|
rs893516153
|
0.00007
|
NM_000091.5(COL4A3):c.3476G>A (p.Arg1159His)
|
rs145948549
|
0.00007
|
NM_000092.5(COL4A4):c.*4347C>T
|
rs190602131
|
0.00007
|
NM_000092.5(COL4A4):c.2985C>T (p.Pro995=)
|
rs79261248
|
0.00007
|
NM_033380.3(COL4A5):c.3403A>G (p.Ile1135Val)
|
rs747614562
|
0.00007
|
NM_000091.5(COL4A3):c.*1000C>T
|
rs770149608
|
0.00006
|
NM_000091.5(COL4A3):c.*1645del
|
rs886055747
|
0.00006
|
NM_000091.5(COL4A3):c.*2180C>T
|
rs886055749
|
0.00006
|
NM_000091.5(COL4A3):c.1256C>A (p.Ser419Tyr)
|
rs201031986
|
0.00006
|
NM_000091.5(COL4A3):c.1576-6C>T
|
rs202210023
|
0.00006
|
NM_000091.5(COL4A3):c.1912C>T (p.Pro638Ser)
|
rs767174856
|
0.00006
|
NM_000091.5(COL4A3):c.3228G>A (p.Pro1076=)
|
rs200125890
|
0.00006
|
NM_000091.5(COL4A3):c.3565+9T>G
|
rs750406964
|
0.00006
|
NM_000091.5(COL4A3):c.4253-14T>C
|
rs747386514
|
0.00006
|
NM_000091.5(COL4A3):c.4649T>G (p.Val1550Gly)
|
rs200655479
|
0.00006
|
NM_000091.5(COL4A3):c.513C>T (p.Gly171=)
|
rs199514043
|
0.00006
|
NM_000092.5(COL4A4):c.*1112G>A
|
rs886055717
|
0.00006
|
NM_000092.5(COL4A4):c.*1802T>A
|
rs886055713
|
0.00006
|
NM_000092.5(COL4A4):c.1129C>T (p.Arg377Cys)
|
rs555143841
|
0.00006
|
NM_000092.5(COL4A4):c.1394C>T (p.Pro465Leu)
|
rs200411532
|
0.00006
|
NM_000092.5(COL4A4):c.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.4291C>T (p.Arg1431Cys)
|
rs536570392
|
0.00006
|
NM_000092.5(COL4A4):c.4945A>G (p.Ser1649Gly)
|
rs192411379
|
0.00006
|
NM_000092.5(COL4A4):c.778G>A (p.Val260Ile)
|
rs775358063
|
0.00006
|
NM_000092.5(COL4A4):c.8C>T (p.Ser3Phe)
|
rs201403066
|
0.00006
|
NM_033380.3(COL4A5):c.4898C>T (p.Ala1633Val)
|
rs982188184
|
0.00006
|
NM_000091.5(COL4A3):c.1637C>T (p.Pro546Leu)
|
rs772037798
|
0.00005
|
NM_000091.5(COL4A3):c.1928-4T>C
|
rs376327706
|
0.00005
|
NM_000091.5(COL4A3):c.2115T>A (p.Pro705=)
|
rs201419174
|
0.00005
|
NM_000091.5(COL4A3):c.4482G>A (p.Leu1494=)
|
rs181952966
|
0.00005
|
NM_000092.4(COL4A4):c.-341G>A
|
rs886055731
|
0.00005
|
NM_000092.5(COL4A4):c.*3938A>G
|
rs192161029
|
0.00005
|
NM_000092.5(COL4A4):c.1334G>C (p.Gly445Ala)
|
rs548019779
|
0.00005
|
NM_000092.5(COL4A4):c.1630C>T (p.His544Tyr)
|
rs745815071
|
0.00005
|
NM_000092.5(COL4A4):c.2570C>T (p.Pro857Leu)
|
rs533602128
|
0.00005
|
NM_000092.5(COL4A4):c.2929C>G (p.Pro977Ala)
|
rs769300622
|
0.00005
|
NM_000092.5(COL4A4):c.4216+11C>T
|
rs117468095
|
0.00005
|
NM_000092.5(COL4A4):c.4421C>T (p.Thr1474Met)
|
rs201615111
|
0.00005
|
NM_000092.5(COL4A4):c.4612G>A (p.Asp1538Asn)
|
rs376401228
|
0.00005
|
NM_000092.5(COL4A4):c.928C>T (p.Arg310Trp)
|
rs200817090
|
0.00005
|
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp)
|
rs104886142
|
0.00005
|
NM_033380.3(COL4A5):c.4414C>T (p.Arg1472Cys)
|
rs746184634
|
0.00005
|
NM_212482.4(FN1):c.833C>G (p.Thr278Ser)
|
rs368428323
|
0.00005
|
NM_000091.4(COL4A3):c.-134T>C
|
rs886055734
|
0.00004
|
NM_000091.5(COL4A3):c.*1612A>G
|
rs760687020
|
0.00004
|
NM_000091.5(COL4A3):c.*2565T>C
|
rs1261742464
|
0.00004
|
NM_000091.5(COL4A3):c.*261A>T
|
rs1019244359
|
0.00004
|
NM_000091.5(COL4A3):c.1039T>A (p.Tyr347Asn)
|
rs765336013
|
0.00004
|
NM_000091.5(COL4A3):c.172G>A (p.Gly58Ser)
|
rs184730597
|
0.00004
|
NM_000091.5(COL4A3):c.2125+13T>C
|
rs777353565
|
0.00004
|
NM_000091.5(COL4A3):c.2282G>A (p.Arg761Lys)
|
rs747356302
|
0.00004
|
NM_000091.5(COL4A3):c.3032G>A (p.Arg1011His)
|
rs772164474
|
0.00004
|
NM_000091.5(COL4A3):c.4677C>T (p.Ala1559=)
|
rs764663555
|
0.00004
|
NM_000091.5(COL4A3):c.4772C>T (p.Ser1591Phe)
|
rs558813497
|
0.00004
|
NM_000091.5(COL4A3):c.514G>A (p.Asp172Asn)
|
rs377575924
|
0.00004
|
NM_000091.5(COL4A3):c.516C>T (p.Asp172=)
|
rs759455097
|
0.00004
|
NM_000091.5(COL4A3):c.717A>G (p.Gly239=)
|
rs377503376
|
0.00004
|
NM_000091.5(COL4A3):c.870T>C (p.Pro290=)
|
rs373130348
|
0.00004
|
NM_000091.5(COL4A3):c.934-6C>A
|
rs369438839
|
0.00004
|
NM_000092.5(COL4A4):c.*1073del
|
rs149522920
|
0.00004
|
NM_000092.5(COL4A4):c.*128G>A
|
rs886055722
|
0.00004
|
NM_000092.5(COL4A4):c.*1423T>C
|
rs886055714
|
0.00004
|
NM_000092.5(COL4A4):c.*1960C>A
|
rs1035280131
|
0.00004
|
NM_000092.5(COL4A4):c.*2033G>A
|
rs886055711
|
0.00004
|
NM_000092.5(COL4A4):c.*888G>A
|
rs372146953
|
0.00004
|
NM_000092.5(COL4A4):c.*931C>T
|
rs903690028
|
0.00004
|
NM_000092.5(COL4A4):c.1668G>T (p.Lys556Asn)
|
rs764279454
|
0.00004
|
NM_000092.5(COL4A4):c.1782A>G (p.Glu594=)
|
rs370489388
|
0.00004
|
NM_000092.5(COL4A4):c.2516C>T (p.Pro839Leu)
|
rs199562472
|
0.00004
|
NM_000092.5(COL4A4):c.2717-3C>T
|
rs191634780
|
0.00004
|
NM_000092.5(COL4A4):c.2986G>A (p.Gly996Arg)
|
rs370474706
|
0.00004
|
NM_000092.5(COL4A4):c.3644C>T (p.Pro1215Leu)
|
rs189847470
|
0.00004
|
NM_000092.5(COL4A4):c.4247G>A (p.Arg1416Lys)
|
rs370734150
|
0.00004
|
NM_000092.5(COL4A4):c.4394G>A (p.Gly1465Asp)
|
rs533297350
|
0.00004
|
NM_000092.5(COL4A4):c.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_033380.3(COL4A5):c.271A>G (p.Ile91Val)
|
rs919113147
|
0.00004
|
NM_033380.3(COL4A5):c.3955C>T (p.Arg1319Trp)
|
rs138903372
|
0.00004
|
NM_033380.3(COL4A5):c.443C>T (p.Pro148Leu)
|
rs773404950
|
0.00004
|
NM_000091.5(COL4A3):c.*287G>A
|
rs573135458
|
0.00003
|
NM_000091.5(COL4A3):c.*660T>C
|
rs557009121
|
0.00003
|
NM_000091.5(COL4A3):c.1022G>A (p.Arg341His)
|
rs200738124
|
0.00003
|
NM_000091.5(COL4A3):c.1798G>A (p.Asp600Asn)
|
rs781224368
|
0.00003
|
NM_000091.5(COL4A3):c.2740C>A (p.Gln914Lys)
|
rs761717909
|
0.00003
|
NM_000091.5(COL4A3):c.4059T>C (p.Ile1353=)
|
rs374672854
|
0.00003
|
NM_000091.5(COL4A3):c.4678G>A (p.Val1560Ile)
|
rs574102153
|
0.00003
|
NM_000091.5(COL4A3):c.4700T>G (p.Ile1567Ser)
|
rs371452712
|
0.00003
|
NM_000091.5(COL4A3):c.4717G>A (p.Gly1573Ser)
|
rs761262391
|
0.00003
|
NM_000091.5(COL4A3):c.4994G>A (p.Cys1665Tyr)
|
rs376550779
|
0.00003
|
NM_000091.5(COL4A3):c.668T>C (p.Ile223Thr)
|
rs772407219
|
0.00003
|
NM_000091.5(COL4A3):c.756T>A (p.Asp252Glu)
|
rs1412919917
|
0.00003
|
NM_000092.5(COL4A4):c.*1026G>A
|
rs927436000
|
0.00003
|
NM_000092.5(COL4A4):c.*1242C>T
|
rs886055716
|
0.00003
|
NM_000092.5(COL4A4):c.*2677T>G
|
rs892742003
|
0.00003
|
NM_000092.5(COL4A4):c.*3299A>G
|
rs886055706
|
0.00003
|
NM_000092.5(COL4A4):c.*4393G>T
|
rs886055699
|
0.00003
|
NM_000092.5(COL4A4):c.1471C>T (p.Leu491Phe)
|
rs777805216
|
0.00003
|
NM_000092.5(COL4A4):c.2586T>C (p.Pro862=)
|
rs761238651
|
0.00003
|
NM_000092.5(COL4A4):c.3150+14G>T
|
rs201486440
|
0.00003
|
NM_000092.5(COL4A4):c.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_000091.5(COL4A3):c.-16T>C
|
rs886055736
|
0.00002
|
NM_000091.5(COL4A3):c.1295C>T (p.Pro432Leu)
|
rs534253913
|
0.00002
|
NM_000091.5(COL4A3):c.1978C>A (p.Pro660Thr)
|
rs773674552
|
0.00002
|
NM_000091.5(COL4A3):c.2054C>T (p.Pro685Leu)
|
rs759579342
|
0.00002
|
NM_000091.5(COL4A3):c.206A>C (p.Glu69Ala)
|
rs755344973
|
0.00002
|
NM_000091.5(COL4A3):c.2747-4T>C
|
rs772016854
|
0.00002
|
NM_000091.5(COL4A3):c.2919C>T (p.Gly973=)
|
rs758181560
|
0.00002
|
NM_000091.5(COL4A3):c.2954G>T (p.Gly985Val)
|
rs121912827
|
0.00002
|
NM_000091.5(COL4A3):c.3691G>A (p.Gly1231Ser)
|
rs761518401
|
0.00002
|
NM_000091.5(COL4A3):c.4615_4617dup (p.Arg1539dup)
|
rs773268719
|
0.00002
|
NM_000091.5(COL4A3):c.468+9T>C
|
rs754471166
|
0.00002
|
NM_000091.5(COL4A3):c.469G>C (p.Gly157Arg)
|
rs764451365
|
0.00002
|
NM_000091.5(COL4A3):c.568T>C (p.Phe190Leu)
|
rs371173786
|
0.00002
|
NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg)
|
rs772708743
|
0.00002
|
NM_000091.5(COL4A3):c.964T>C (p.Leu322=)
|
rs1213929853
|
0.00002
|
NM_000092.5(COL4A4):c.-1G>A
|
rs780102207
|
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.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.3859C>G (p.Leu1287Val)
|
rs571869797
|
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.4950C>G (p.Phe1650Leu)
|
rs542384685
|
0.00002
|
NM_016239.4(MYO15A):c.7925C>T (p.Pro2642Leu)
|
rs562914140
|
0.00002
|
NM_033380.3(COL4A5):c.1057A>G (p.Ile353Val)
|
rs769214642
|
0.00002
|
NM_033380.3(COL4A5):c.142-6T>C
|
rs1047699266
|
0.00002
|
NM_033380.3(COL4A5):c.2533A>G (p.Lys845Glu)
|
rs992950790
|
0.00002
|
NM_033380.3(COL4A5):c.3493G>A (p.Glu1165Lys)
|
rs771538814
|
0.00002
|
NM_033380.3(COL4A5):c.677A>C (p.Lys226Thr)
|
rs991159149
|
0.00002
|
NM_000091.5(COL4A3):c.*1238T>C
|
rs1423033002
|
0.00001
|
NM_000091.5(COL4A3):c.*1340T>C
|
rs929078167
|
0.00001
|
NM_000091.5(COL4A3):c.*1634G>C
|
rs376587950
|
0.00001
|
NM_000091.5(COL4A3):c.*2308T>C
|
rs886055751
|
0.00001
|
NM_000091.5(COL4A3):c.*2795T>C
|
rs906294246
|
0.00001
|
NM_000091.5(COL4A3):c.*387A>C
|
rs971677230
|
0.00001
|
NM_000091.5(COL4A3):c.*501T>C
|
rs1210086779
|
0.00001
|
NM_000091.5(COL4A3):c.1021C>T (p.Arg341Cys)
|
rs778166354
|
0.00001
|
NM_000091.5(COL4A3):c.1367_1369del (p.Tyr456del)
|
rs762420854
|
0.00001
|
NM_000091.5(COL4A3):c.1423C>G (p.Leu475Val)
|
rs886055738
|
0.00001
|
NM_000091.5(COL4A3):c.1909G>A (p.Gly637Arg)
|
rs761686437
|
0.00001
|
NM_000091.5(COL4A3):c.1923A>C (p.Glu641Asp)
|
rs752819997
|
0.00001
|
NM_000091.5(COL4A3):c.1926C>T (p.Ala642=)
|
rs758586879
|
0.00001
|
NM_000091.5(COL4A3):c.1927G>A (p.Gly643Ser)
|
rs778034451
|
0.00001
|
NM_000091.5(COL4A3):c.2452G>A (p.Gly818Arg)
|
rs868002181
|
0.00001
|
NM_000091.5(COL4A3):c.250C>A (p.Pro84Thr)
|
rs572059687
|
0.00001
|
NM_000091.5(COL4A3):c.2656+12T>A
|
rs748254625
|
0.00001
|
NM_000091.5(COL4A3):c.272G>A (p.Gly91Asp)
|
rs1414411811
|
0.00001
|
NM_000091.5(COL4A3):c.2750G>A (p.Ser917Asn)
|
rs773119622
|
0.00001
|
NM_000091.5(COL4A3):c.2765G>T (p.Gly922Val)
|
rs920413118
|
0.00001
|
NM_000091.5(COL4A3):c.281G>C (p.Gly94Ala)
|
rs780287240
|
0.00001
|
NM_000091.5(COL4A3):c.2827G>A (p.Gly943Arg)
|
rs1265432530
|
0.00001
|
NM_000091.5(COL4A3):c.2962G>A (p.Gly988Arg)
|
rs769683665
|
0.00001
|
NM_000091.5(COL4A3):c.3252A>T (p.Glu1084Asp)
|
rs766420056
|
0.00001
|
NM_000091.5(COL4A3):c.3254T>G (p.Met1085Arg)
|
rs769395979
|
0.00001
|
NM_000091.5(COL4A3):c.3472G>C (p.Gly1158Arg)
|
rs914878176
|
0.00001
|
NM_000091.5(COL4A3):c.3516G>A (p.Thr1172=)
|
rs758035504
|
0.00001
|
NM_000091.5(COL4A3):c.352G>A (p.Gly118Arg)
|
rs1293137291
|
0.00001
|
NM_000091.5(COL4A3):c.361G>A (p.Gly121Ser)
|
rs778886174
|
0.00001
|
NM_000091.5(COL4A3):c.3764C>A (p.Pro1255His)
|
rs759579368
|
0.00001
|
NM_000091.5(COL4A3):c.388-15T>C
|
rs762513527
|
0.00001
|
NM_000091.5(COL4A3):c.4100G>C (p.Gly1367Ala)
|
rs886055742
|
0.00001
|
NM_000091.5(COL4A3):c.4153+10T>C
|
rs865866667
|
0.00001
|
NM_000091.5(COL4A3):c.441G>A (p.Pro147=)
|
rs373559251
|
0.00001
|
NM_000091.5(COL4A3):c.443G>T (p.Gly148Val)
|
rs775373641
|
0.00001
|
NM_000091.5(COL4A3):c.4450G>A (p.Gly1484Arg)
|
rs976882559
|
0.00001
|
NM_000091.5(COL4A3):c.44C>G (p.Pro15Arg)
|
rs1260966222
|
0.00001
|
NM_000091.5(COL4A3):c.4643G>A (p.Cys1548Tyr)
|
rs745466617
|
0.00001
|
NM_000091.5(COL4A3):c.4663G>A (p.Ala1555Thr)
|
rs774089446
|
0.00001
|
NM_000091.5(COL4A3):c.4753A>G (p.Met1585Val)
|
rs541108316
|
0.00001
|
NM_000091.5(COL4A3):c.4793T>G (p.Leu1598Arg)
|
rs752452590
|
0.00001
|
NM_000091.5(COL4A3):c.4826G>A (p.Arg1609Gln)
|
rs1380878336
|
0.00001
|
NM_000091.5(COL4A3):c.4996A>G (p.Met1666Val)
|
rs759583948
|
0.00001
|
NM_000091.5(COL4A3):c.504T>C (p.Asp168=)
|
rs748974369
|
0.00001
|
NM_000091.5(COL4A3):c.520G>A (p.Gly174Arg)
|
rs1014839148
|
0.00001
|
NM_000091.5(COL4A3):c.527C>G (p.Pro176Arg)
|
rs759869958
|
0.00001
|
NM_000091.5(COL4A3):c.587C>T (p.Pro196Leu)
|
rs2069719935
|
0.00001
|
NM_000091.5(COL4A3):c.765G>A (p.Thr255=)
|
rs869025328
|
0.00001
|
NM_000091.5(COL4A3):c.828+9T>C
|
rs2069991819
|
0.00001
|
NM_000092.4(COL4A4):c.-408G>A
|
rs554839865
|
0.00001
|
NM_000092.5(COL4A4):c.*1173T>C
|
rs1360525515
|
0.00001
|
NM_000092.5(COL4A4):c.*1930T>C
|
rs1289208914
|
0.00001
|
NM_000092.5(COL4A4):c.*222C>G
|
rs1305583691
|
0.00001
|
NM_000092.5(COL4A4):c.*22C>A
|
rs562265530
|
0.00001
|
NM_000092.5(COL4A4):c.*4363G>C
|
rs1233339249
|
0.00001
|
NM_000092.5(COL4A4):c.*4369C>T
|
rs886055700
|
0.00001
|
NM_000092.5(COL4A4):c.*4498T>C
|
rs1481974918
|
0.00001
|
NM_000092.5(COL4A4):c.*4583A>G
|
rs886055698
|
0.00001
|
NM_000092.5(COL4A4):c.*4599T>C
|
rs1280441510
|
0.00001
|
NM_000092.5(COL4A4):c.*833C>T
|
rs886055720
|
0.00001
|
NM_000092.5(COL4A4):c.1203A>G (p.Ala401=)
|
rs778832152
|
0.00001
|
NM_000092.5(COL4A4):c.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.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.192G>A (p.Arg64=)
|
rs748152418
|
0.00001
|
NM_000092.5(COL4A4):c.1963C>T (p.Pro655Ser)
|
rs886055726
|
0.00001
|
NM_000092.5(COL4A4):c.1988-3C>T
|
rs752688851
|
0.00001
|
NM_000092.5(COL4A4):c.2007C>T (p.Asn669=)
|
rs754769010
|
0.00001
|
NM_000092.5(COL4A4):c.2045A>G (p.Asp682Gly)
|
rs142093416
|
0.00001
|
NM_000092.5(COL4A4):c.2092G>A (p.Gly698Arg)
|
rs1241404192
|
0.00001
|
NM_000092.5(COL4A4):c.2123G>T (p.Arg708Ile)
|
rs759828394
|
0.00001
|
NM_000092.5(COL4A4):c.228T>G (p.Ile76Met)
|
rs1393470640
|
0.00001
|
NM_000092.5(COL4A4):c.2294G>T (p.Gly765Val)
|
rs747881404
|
0.00001
|
NM_000092.5(COL4A4):c.2378C>T (p.Ala793Val)
|
rs377676207
|
0.00001
|
NM_000092.5(COL4A4):c.2383+3A>G
|
rs1351961379
|
0.00001
|
NM_000092.5(COL4A4):c.2392G>A (p.Gly798Ser)
|
rs760803228
|
0.00001
|
NM_000092.5(COL4A4):c.2549C>T (p.Ala850Val)
|
rs758199486
|
0.00001
|
NM_000092.5(COL4A4):c.2617G>A (p.Gly873Arg)
|
rs929684384
|
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.3434G>A (p.Gly1145Glu)
|
rs1260916310
|
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.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.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.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.4829A>G (p.Gln1610Arg)
|
rs369714481
|
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.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.871-6T>C
|
rs749753913
|
0.00001
|
NM_000092.5(COL4A4):c.88C>T (p.Leu30Phe)
|
rs758174051
|
0.00001
|
NM_001146079.2(CLDN14):c.49G>A (p.Gly17Ser)
|
rs1270823192
|
0.00001
|
NM_033380.3(COL4A5):c.1483C>A (p.Gln495Lys)
|
rs757877136
|
0.00001
|
NM_033380.3(COL4A5):c.2290C>T (p.Leu764Phe)
|
rs2066735216
|
0.00001
|
NM_033380.3(COL4A5):c.2329C>T (p.Arg777Cys)
|
rs779033931
|
0.00001
|
NM_033380.3(COL4A5):c.2516A>G (p.His839Arg)
|
rs1272041306
|
0.00001
|
NM_033380.3(COL4A5):c.2600T>C (p.Ile867Thr)
|
rs747918142
|
0.00001
|
NM_033380.3(COL4A5):c.3508G>A (p.Gly1170Ser)
|
rs104886237
|
0.00001
|
NM_033380.3(COL4A5):c.3878C>T (p.Pro1293Leu)
|
rs1397121500
|
0.00001
|
NM_033380.3(COL4A5):c.436C>A (p.Pro146Thr)
|
rs764933317
|
0.00001
|
NM_033380.3(COL4A5):c.4586T>C (p.Ile1529Thr)
|
rs749580257
|
0.00001
|
NM_033380.3(COL4A5):c.4726C>G (p.Pro1576Ala)
|
rs747041833
|
0.00001
|
NM_033380.3(COL4A5):c.4891C>T (p.Arg1631Cys)
|
rs865842167
|
0.00001
|
NM_033380.3(COL4A5):c.4937A>G (p.Tyr1646Cys)
|
rs937985430
|
0.00001
|
NM_033390.2(ZC3H12C):c.355C>G (p.Gln119Glu)
|
rs775161683
|
0.00001
|
NM_000091.4(COL4A3):c.-146G>C
|
rs886055733
|
|
NM_000091.5(COL4A3):c.*1032G>A
|
rs886055744
|
|
NM_000091.5(COL4A3):c.*1069_*1070del
|
rs11297279
|
|
NM_000091.5(COL4A3):c.*1069_*1070dup
|
rs11297279
|
|
NM_000091.5(COL4A3):c.*1070del
|
rs11297279
|
|
NM_000091.5(COL4A3):c.*1070dup
|
rs11297279
|
|
NM_000091.5(COL4A3):c.*1071G>A
|
rs866036167
|
|
NM_000091.5(COL4A3):c.*1739C>T
|
rs750139996
|
|
NM_000091.5(COL4A3):c.*1918T>C
|
rs767668198
|
|
NM_000091.5(COL4A3):c.*2048C>G
|
rs886055748
|
|
NM_000091.5(COL4A3):c.*2087A>T
|
rs2073823186
|
|
NM_000091.5(COL4A3):c.*2266A>G
|
rs2073829100
|
|
NM_000091.5(COL4A3):c.*2272T>C
|
rs886055750
|
|
NM_000091.5(COL4A3):c.*2836A>G
|
rs1030825188
|
|
NM_000091.5(COL4A3):c.*2853A>C
|
rs768580153
|
|
NM_000091.5(COL4A3):c.*454G>T
|
rs2073771672
|
|
NM_000091.5(COL4A3):c.*459T>C
|
rs1041353391
|
|
NM_000091.5(COL4A3):c.*656T>A
|
rs538761832
|
|
NM_000091.5(COL4A3):c.-81G>C
|
rs886055735
|
|
NM_000091.5(COL4A3):c.1025G>A (p.Gly342Asp)
|
|
|
NM_000091.5(COL4A3):c.1029+4A>G
|
rs2125947156
|
|
NM_000091.5(COL4A3):c.1031C>T (p.Thr344Ile)
|
rs2070429834
|
|
NM_000091.5(COL4A3):c.1084C>T (p.Pro362Ser)
|
rs767943108
|
|
NM_000091.5(COL4A3):c.1127C>T (p.Pro376Leu)
|
rs760049264
|
|
NM_000091.5(COL4A3):c.1150+4T>A
|
rs200061201
|
|
NM_000091.5(COL4A3):c.1153TCA[1] (p.Ser386del)
|
rs1553755078
|
|
NM_000091.5(COL4A3):c.1167C>G (p.Gly389=)
|
rs2070734491
|
|
NM_000091.5(COL4A3):c.1238C>A (p.Ala413Asp)
|
rs2070738434
|
|
NM_000091.5(COL4A3):c.1304C>T (p.Pro435Leu)
|
rs2070741592
|
|
NM_000091.5(COL4A3):c.1307G>T (p.Gly436Val)
|
rs1237274947
|
|
NM_000091.5(COL4A3):c.1309C>T (p.Pro437Ser)
|
rs763403545
|
|
NM_000091.5(COL4A3):c.1354G>A (p.Gly452Arg)
|
rs772958162
|
|
NM_000091.5(COL4A3):c.1459G>T (p.Gly487Cys)
|
rs745472969
|
|
NM_000091.5(COL4A3):c.145G>A (p.Gly49Arg)
|
rs1553749403
|
|
NM_000091.5(COL4A3):c.1508G>A (p.Arg503Lys)
|
rs1434266764
|
|
NM_000091.5(COL4A3):c.1540G>A (p.Gly514Arg)
|
rs2071142257
|
|
NM_000091.5(COL4A3):c.1679G>T (p.Gly560Val)
|
rs2071193842
|
|
NM_000091.5(COL4A3):c.1687G>A (p.Gly563Arg)
|
rs1553757060
|
|
NM_000091.5(COL4A3):c.1727T>C (p.Val576Ala)
|
rs2071196765
|
|
NM_000091.5(COL4A3):c.1759-11T>A
|
rs1433223189
|
|
NM_000091.5(COL4A3):c.1788_1823del (p.Pro598_Pro609del)
|
|
|
NM_000091.5(COL4A3):c.1792C>G (p.Pro598Ala)
|
rs2071331630
|
|
NM_000091.5(COL4A3):c.1849G>A (p.Gly617Ser)
|
rs2071335952
|
|
NM_000091.5(COL4A3):c.1856G>A (p.Gly619Glu)
|
rs2071336508
|
|
NM_000091.5(COL4A3):c.1863A>G (p.Gln621=)
|
rs771390525
|
|
NM_000091.5(COL4A3):c.1873G>C (p.Gly625Arg)
|
rs2125996501
|
|
NM_000091.5(COL4A3):c.1892G>T (p.Gly631Val)
|
rs1315862965
|
|
NM_000091.5(COL4A3):c.190G>C (p.Gly64Arg)
|
rs917643323
|
|
NM_000091.5(COL4A3):c.1929C>A (p.Gly643=)
|
rs1574764067
|
|
NM_000091.5(COL4A3):c.1970C>T (p.Pro657Leu)
|
rs2106124698
|
|
NM_000091.5(COL4A3):c.1987C>T (p.Pro663Ser)
|
rs747891356
|
|
NM_000091.5(COL4A3):c.2021-9G>C
|
rs773021303
|
|
NM_000091.5(COL4A3):c.2033C>A (p.Ser678Tyr)
|
rs1354756195
|
|
NM_000091.5(COL4A3):c.2057G>A (p.Gly686Asp)
|
|
|
NM_000091.5(COL4A3):c.2127A>C (p.Gly709=)
|
rs1238746236
|
|
NM_000091.5(COL4A3):c.2188G>C (p.Gly730Arg)
|
rs2106147444
|
|
NM_000091.5(COL4A3):c.2196T>C (p.Pro732=)
|
rs1251724413
|
|
NM_000091.5(COL4A3):c.2374+9dup
|
rs1553759691
|
|
NM_000091.5(COL4A3):c.2381C>T (p.Pro794Leu)
|
rs1559895213
|
|
NM_000091.5(COL4A3):c.2610G>A (p.Leu870=)
|
rs886039889
|
|
NM_000091.5(COL4A3):c.2636del (p.Pro879fs)
|
rs2106164640
|
|
NM_000091.5(COL4A3):c.2648G>A (p.Gly883Glu)
|
rs2106164814
|
|
NM_000091.5(COL4A3):c.2711G>T (p.Gly904Val)
|
rs1174417447
|
|
NM_000091.5(COL4A3):c.2747-11C>A
|
rs886055739
|
|
NM_000091.5(COL4A3):c.274G>A (p.Val92Ile)
|
rs200873401
|
|
NM_000091.5(COL4A3):c.2881+6G>T
|
rs886055740
|
|
NM_000091.5(COL4A3):c.2990G>A (p.Gly997Glu)
|
rs1553762113
|
|
NM_000091.5(COL4A3):c.3071G>T (p.Gly1024Val)
|
|
|
NM_000091.5(COL4A3):c.3116G>A (p.Gly1039Glu)
|
rs2072647561
|
|
NM_000091.5(COL4A3):c.3189_3197dup (p.1064PGP[3])
|
rs1553762295
|
|
NM_000091.5(COL4A3):c.3200C>G (p.Pro1067Arg)
|
rs55849096
|
|
NM_000091.5(COL4A3):c.3200C>T (p.Pro1067Leu)
|
rs55849096
|
|
NM_000091.5(COL4A3):c.3211-13G>A
|
rs200555661
|
|
NM_000091.5(COL4A3):c.3233A>G (p.Asp1078Gly)
|
rs766520935
|
|
NM_000091.5(COL4A3):c.3247G>C (p.Gly1083Arg)
|
rs2106226509
|
|
NM_000091.5(COL4A3):c.3312AAGTCCTGG[1] (p.1105SPG[1])
|
rs756539994
|
|
NM_000091.5(COL4A3):c.3323G>T (p.Ser1108Ile)
|
rs1574813579
|
|
NM_000091.5(COL4A3):c.3416C>T (p.Pro1139Leu)
|
rs1057516186
|
|
NM_000091.5(COL4A3):c.3518-15G>C
|
rs2072979600
|
|
NM_000091.5(COL4A3):c.3546_3548dup (p.Gly1183dup)
|
rs1175052474
|
|
NM_000091.5(COL4A3):c.3591A>G (p.Pro1197=)
|
rs753945261
|
|
NM_000091.5(COL4A3):c.3659T>G (p.Ile1220Arg)
|
rs1229811135
|
|
NM_000091.5(COL4A3):c.365T>C (p.Val122Ala)
|
rs766935732
|
|
NM_000091.5(COL4A3):c.3662_3664del (p.Glu1221del)
|
rs756342074
|
|
NM_000091.5(COL4A3):c.36C>T (p.Leu12=)
|
rs1189095338
|
|
NM_000091.5(COL4A3):c.3735C>G (p.Gly1245=)
|
rs2073099504
|
|
NM_000091.5(COL4A3):c.3755C>G (p.Ala1252Gly)
|
rs761179248
|
|
NM_000091.5(COL4A3):c.3790A>G (p.Ile1264Val)
|
rs1553764410
|
|
NM_000091.5(COL4A3):c.3825C>T (p.His1275=)
|
rs143380907
|
|
NM_000091.5(COL4A3):c.3857G>T (p.Gly1286Val)
|
rs2073148750
|
|
NM_000091.5(COL4A3):c.386A>C (p.Lys129Thr)
|
rs886055737
|
|
NM_000091.5(COL4A3):c.3882+5G>A
|
rs1553764454
|
|
NM_000091.5(COL4A3):c.3949G>A (p.Val1317Met)
|
|
|
NM_000091.5(COL4A3):c.3956-8_3956-5del
|
rs779522146
|
|
NM_000091.5(COL4A3):c.3995C>G (p.Pro1332Arg)
|
rs757747350
|
|
NM_000091.5(COL4A3):c.39_47dup (p.Pro15_Leu17dup)
|
rs1476762825
|
|
NM_000091.5(COL4A3):c.4027+11G>T
|
rs191002419
|
|
NM_000091.5(COL4A3):c.4045G>A (p.Gly1349Ser)
|
rs2073401281
|
|
NM_000091.5(COL4A3):c.416G>A (p.Gly139Glu)
|
rs2125911862
|
|
NM_000091.5(COL4A3):c.4255C>A (p.Pro1419Thr)
|
rs2073566607
|
|
NM_000091.5(COL4A3):c.4301A>G (p.Asp1434Gly)
|
rs2106283943
|
|
NM_000091.5(COL4A3):c.4315G>A (p.Ala1439Thr)
|
rs2106284049
|
|
NM_000091.5(COL4A3):c.4326_4328del (p.Thr1443del)
|
rs941454321
|
|
NM_000091.5(COL4A3):c.4386G>A (p.Glu1462=)
|
rs2073573869
|
|
NM_000091.5(COL4A3):c.4462G>C (p.Gly1488Arg)
|
rs1574840156
|
|
NM_000091.5(COL4A3):c.4501C>A (p.Pro1501Thr)
|
rs1195144676
|
|
NM_000091.5(COL4A3):c.4502C>A (p.Pro1501Gln)
|
rs1553766363
|
|
NM_000091.5(COL4A3):c.4504T>C (p.Phe1502Leu)
|
rs1553766367
|
|
NM_000091.5(COL4A3):c.4547G>A (p.Arg1516Gln)
|
|
|
NM_000091.5(COL4A3):c.4664C>T (p.Ala1555Val)
|
rs369575989
|
|
NM_000091.5(COL4A3):c.4691C>T (p.Thr1564Ile)
|
rs886055743
|
|
NM_000091.5(COL4A3):c.4702C>T (p.Pro1568Ser)
|
rs2073644777
|
|
NM_000091.5(COL4A3):c.4712C>T (p.Pro1571Leu)
|
rs2073645172
|
|
NM_000091.5(COL4A3):c.4721G>A (p.Trp1574Ter)
|
rs2106289552
|
|
NM_000091.5(COL4A3):c.4765G>A (p.Ala1589Thr)
|
rs2073712176
|
|
NM_000091.5(COL4A3):c.4781C>G (p.Thr1594Ser)
|
rs760284809
|
|
NM_000091.5(COL4A3):c.4798_4800del (p.Ser1600del)
|
rs775551399
|
|
NM_000091.5(COL4A3):c.4825C>A (p.Arg1609=)
|
rs756231749
|
|
NM_000091.5(COL4A3):c.4882T>G (p.Ser1628Ala)
|
rs773905198
|
|
NM_000091.5(COL4A3):c.4976dup (p.Ser1660fs)
|
rs1553766929
|
|
NM_000091.5(COL4A3):c.4977_4979dup (p.Ile1659_Ser1660insArg)
|
rs1553766932
|
|
NM_000091.5(COL4A3):c.5010_*14del (p.His1670_Ter1671delinsXaa)
|
rs765655100
|
|
NM_000091.5(COL4A3):c.568T>A (p.Phe190Ile)
|
rs371173786
|
|
NM_000091.5(COL4A3):c.580G>A (p.Val194Ile)
|
rs749989473
|
|
NM_000091.5(COL4A3):c.593G>T (p.Gly198Val)
|
rs2125924674
|
|
NM_000091.5(COL4A3):c.610-11G>A
|
rs566045388
|
|
NM_000091.5(COL4A3):c.686G>T (p.Arg229Leu)
|
rs188942711
|
|
NM_000091.5(COL4A3):c.706G>A (p.Gly236Arg)
|
rs2069931154
|
|
NM_000091.5(COL4A3):c.716G>A (p.Gly239Glu)
|
rs1574699782
|
|
NM_000091.5(COL4A3):c.766-5G>A
|
rs751236477
|
|
NM_000091.5(COL4A3):c.814C>T (p.Pro272Ser)
|
|
|
NM_000091.5(COL4A3):c.865G>A (p.Ala289Thr)
|
rs2070037501
|
|
NM_000091.5(COL4A3):c.87+7G>T
|
rs1358691399
|
|
NM_000091.5(COL4A3):c.922C>T (p.Pro308Ser)
|
rs765318949
|
|
NM_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.1030-14A>G
|
rs2060400553
|
|
NM_000092.5(COL4A4):c.1098A>G (p.Lys366=)
|
rs1305609812
|
|
NM_000092.5(COL4A4):c.1204+5G>A
|
rs748967270
|
|
NM_000092.5(COL4A4):c.1321C>A (p.Pro441Thr)
|
rs2150686207
|
|
NM_000092.5(COL4A4):c.1379G>A (p.Cys460Tyr)
|
rs753659852
|
|
NM_000092.5(COL4A4):c.1459+5G>A
|
rs2150615599
|
|
NM_000092.5(COL4A4):c.1464T>G (p.Asn488Lys)
|
rs2059739807
|
|
NM_000092.5(COL4A4):c.1522C>T (p.Pro508Ser)
|
rs2059736984
|
|
NM_000092.5(COL4A4):c.1666A>G (p.Lys556Glu)
|
|
|
NM_000092.5(COL4A4):c.1719T>C (p.Pro573=)
|
rs533957132
|
|
NM_000092.5(COL4A4):c.1767T>A (p.Asp589Glu)
|
rs886055727
|
|
NM_000092.5(COL4A4):c.1792C>T (p.Pro598Ser)
|
rs1411689737
|
|
NM_000092.5(COL4A4):c.1914A>G (p.Pro638=)
|
rs759226801
|
|
NM_000092.5(COL4A4):c.192+1G>A
|
|
|
NM_000092.5(COL4A4):c.1967A>G (p.Asp656Gly)
|
rs1387537859
|
|
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.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+8A>T
|
rs745682054
|
|
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.2383+2_2383+5dup
|
rs1553643488
|
|
NM_000092.5(COL4A4):c.248G>A (p.Gly83Glu)
|
rs1559677316
|
|
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.2628_2654dup (p.Arg877_Gly885dup)
|
rs1553641597
|
|
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.3196G>C (p.Gly1066Arg)
|
rs1333536476
|
|
NM_000092.5(COL4A4):c.3317G>T (p.Gly1106Val)
|
|
|
NM_000092.5(COL4A4):c.3374C>T (p.Ser1125Phe)
|
rs766044583
|
|
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.3584ATG[1] (p.Asp1196del)
|
rs780991255
|
|
NM_000092.5(COL4A4):c.3696A>G (p.Pro1232=)
|
rs1968564790
|
|
NM_000092.5(COL4A4):c.3716G>T (p.Gly1239Val)
|
rs1394140383
|
|
NM_000092.5(COL4A4):c.3738C>T (p.Ala1246=)
|
rs2149978554
|
|
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.3849T>A (p.Ser1283Arg)
|
rs1553625644
|
|
NM_000092.5(COL4A4):c.3878A>G (p.Asp1293Gly)
|
rs1559450506
|
|
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.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.4079C>T (p.Pro1360Leu)
|
|
|
NM_000092.5(COL4A4):c.4081+14C>T
|
rs1553623984
|
|
NM_000092.5(COL4A4):c.4095A>G (p.Glu1365=)
|
rs1966135663
|
|
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.436G>A (p.Gly146Ser)
|
rs886055729
|
|
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.4522+4T>G
|
rs1963375507
|
|
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.4660C>T (p.Leu1554Phe)
|
rs1962599188
|
|
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.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.4830AGG[2] (p.Gly1613del)
|
rs768416358
|
|
NM_000092.5(COL4A4):c.489+6A>G
|
|
|
NM_000092.5(COL4A4):c.592C>T (p.Pro198Ser)
|
rs1039244540
|
|
NM_000092.5(COL4A4):c.645G>A (p.Glu215=)
|
rs2061038127
|
|
NM_000092.5(COL4A4):c.680G>A (p.Arg227His)
|
rs368248078
|
|
NM_000092.5(COL4A4):c.766C>T (p.Pro256Ser)
|
rs773445256
|
|
NM_000092.5(COL4A4):c.805A>G (p.Lys269Glu)
|
rs2150805428
|
|
NM_000092.5(COL4A4):c.816+12A>T
|
rs886055728
|
|
NM_000092.5(COL4A4):c.817-6T>G
|
rs2060623868
|
|
NM_000092.5(COL4A4):c.81_86del (p.27IL[1])
|
rs771943519
|
|
NM_000092.5(COL4A4):c.843T>C (p.Val281=)
|
rs1335068296
|
|
NM_000092.5(COL4A4):c.846A>C (p.Gly282=)
|
rs553087192
|
|
NM_000092.5(COL4A4):c.847C>A (p.Leu283Met)
|
rs2060622187
|
|
NM_000092.5(COL4A4):c.870G>A (p.Lys290=)
|
rs2060620860
|
|
NM_000092.5(COL4A4):c.930+5G>A
|
|
|
NM_000092.5(COL4A4):c.931-18dup
|
rs746509796
|
|
NM_033380.3(COL4A5):c.-25_-8dup
|
rs752443408
|
|
NM_033380.3(COL4A5):c.1033-3A>G
|
rs2066339277
|
|
NM_033380.3(COL4A5):c.1033-6A>G
|
rs869025330
|
|
NM_033380.3(COL4A5):c.1047T>C (p.Pro349=)
|
rs1166405194
|
|
NM_033380.3(COL4A5):c.1069G>A (p.Glu357Lys)
|
rs1186225656
|
|
NM_033380.3(COL4A5):c.1432G>T (p.Gly478Cys)
|
rs764743086
|
|
NM_033380.3(COL4A5):c.1520C>A (p.Ser507Tyr)
|
rs1114167369
|
|
NM_033380.3(COL4A5):c.1588-10C>G
|
rs1603290097
|
|
NM_033380.3(COL4A5):c.1603C>T (p.Pro535Ser)
|
rs2147809975
|
|
NM_033380.3(COL4A5):c.1683A>T (p.Gly561=)
|
rs1569494020
|
|
NM_033380.3(COL4A5):c.1780-11T>A
|
rs2147813162
|
|
NM_033380.3(COL4A5):c.1825G>T (p.Gly609Cys)
|
|
|
NM_033380.3(COL4A5):c.1948+4A>C
|
rs1311897513
|
|
NM_033380.3(COL4A5):c.1969C>A (p.Gln657Lys)
|
rs1569494866
|
|
NM_033380.3(COL4A5):c.2086G>C (p.Gly696Arg)
|
rs2147820987
|
|
NM_033380.3(COL4A5):c.212C>T (p.Pro71Leu)
|
rs2065868609
|
|
NM_033380.3(COL4A5):c.2245-3A>G
|
rs1603293513
|
|
NM_033380.3(COL4A5):c.236A>T (p.Asp79Val)
|
rs775277548
|
|
NM_033380.3(COL4A5):c.2543C>T (p.Pro848Leu)
|
|
|
NM_033380.3(COL4A5):c.2678G>A (p.Gly893Asp)
|
|
|
NM_033380.3(COL4A5):c.2767+3_2767+14del
|
|
|
NM_033380.3(COL4A5):c.2777G>T (p.Gly926Val)
|
rs2147865541
|
|
NM_033380.3(COL4A5):c.3142G>A (p.Gly1048Arg)
|
|
|
NM_033380.3(COL4A5):c.3148C>G (p.Pro1050Ala)
|
rs143945573
|
|
NM_033380.3(COL4A5):c.3194A>G (p.Lys1065Arg)
|
|
|
NM_033380.3(COL4A5):c.3455-8T>G
|
rs1569505503
|
|
NM_033380.3(COL4A5):c.3499_3504del (p.Gly1167_Lys1168del)
|
|
|
NM_033380.3(COL4A5):c.3588A>G (p.Gly1196=)
|
rs1556445736
|
|
NM_033380.3(COL4A5):c.3604+3A>T
|
rs1569505614
|
|
NM_033380.3(COL4A5):c.3808+17G>A
|
rs1603312557
|
|
NM_033380.3(COL4A5):c.384+4A>T
|
rs2147746864
|
|
NM_033380.3(COL4A5):c.3964C>G (p.Leu1322Val)
|
rs762726134
|
|
NM_033380.3(COL4A5):c.40T>G (p.Leu14Val)
|
rs760570519
|
|
NM_033380.3(COL4A5):c.4283G>A (p.Arg1428His)
|
rs2068539626
|
|
NM_033380.3(COL4A5):c.4321C>T (p.Arg1441Cys)
|
|
|
NM_033380.3(COL4A5):c.434C>T (p.Pro145Leu)
|
rs2066063898
|
|
NM_033380.3(COL4A5):c.4417C>T (p.His1473Tyr)
|
|
|
NM_033380.3(COL4A5):c.4468T>C (p.Tyr1490His)
|
|
|
NM_033380.3(COL4A5):c.4508G>C (p.Arg1503Thr)
|
rs2147991674
|
|
NM_033380.3(COL4A5):c.4592A>G (p.Asn1531Ser)
|
|
|
NM_033380.3(COL4A5):c.4599C>T (p.Cys1533=)
|
rs1603326524
|
|
NM_033380.3(COL4A5):c.462G>A (p.Met154Ile)
|
rs2066069939
|
|
NM_033380.3(COL4A5):c.4652T>C (p.Met1551Thr)
|
rs1057518146
|
|
NM_033380.3(COL4A5):c.466G>C (p.Gly156Arg)
|
rs2147759184
|
|
NM_033380.3(COL4A5):c.4706+4A>C
|
rs1569508999
|
|
NM_033380.3(COL4A5):c.4745T>C (p.Val1582Ala)
|
rs2148001550
|
|
NM_033380.3(COL4A5):c.4747C>G (p.His1583Asp)
|
|
|
NM_033380.3(COL4A5):c.476G>A (p.Gly159Asp)
|
rs2147759208
|
|
NM_033380.3(COL4A5):c.4821G>C (p.Met1607Ile)
|
rs104886300
|
|
NM_033380.3(COL4A5):c.4831G>A (p.Ala1611Thr)
|
rs2068714182
|
|
NM_033380.3(COL4A5):c.4895C>T (p.Ser1632Leu)
|
rs1556463567
|
|
NM_033380.3(COL4A5):c.4930T>C (p.Cys1644Arg)
|
rs866393484
|
|
NM_033380.3(COL4A5):c.4952A>G (p.Tyr1651Cys)
|
rs2068717823
|
|
NM_033380.3(COL4A5):c.4970C>A (p.Thr1657Asn)
|
|
|
NM_033380.3(COL4A5):c.4972G>C (p.Val1658Leu)
|
rs2068718130
|
|
NM_033380.3(COL4A5):c.4987A>G (p.Met1663Val)
|
rs1316943771
|
|
NM_033380.3(COL4A5):c.5074T>A (p.Ter1692Lys)
|
rs2068734296
|
|
NM_033380.3(COL4A5):c.554C>G (p.Pro185Arg)
|
|
|
NM_033380.3(COL4A5):c.609+5G>A
|
|
|
NM_033380.3(COL4A5):c.687+4A>T
|
|
|
NM_033380.3(COL4A5):c.687+5G>A
|
rs1556405930
|
|
NM_033380.3(COL4A5):c.830C>T (p.Pro277Leu)
|
rs754849522
|
|
NM_033380.3(COL4A5):c.864G>A (p.Lys288=)
|
rs1263254683
|
|
NM_033380.3(COL4A5):c.883G>A (p.Gly295Ser)
|
rs2147776763
|
|
NM_033380.3(COL4A5):c.891+5G>A
|
rs2147776814
|
|
NM_033380.3(COL4A5):c.991-7T>A
|
rs2147784245
|
|