NM_033380.3(COL4A5):c.1331T>G (p.Ile444Ser)
|
rs2272946
|
0.11020
|
NM_033380.3(COL4A5):c.1289C>A (p.Ala430Asp)
|
rs142883891
|
0.00418
|
NM_033380.3(COL4A5):c.3148C>T (p.Pro1050Ser)
|
rs143945573
|
0.00155
|
NM_033380.3(COL4A5):c.2147-12A>G
|
rs749368555
|
0.00061
|
NM_033380.3(COL4A5):c.1187C>T (p.Pro396Leu)
|
rs113013606
|
0.00047
|
NM_033380.3(COL4A5):c.1588-13T>G
|
rs201708502
|
0.00047
|
NM_033380.3(COL4A5):c.3312T>C (p.Gly1104=)
|
rs140829723
|
0.00032
|
NM_033380.3(COL4A5):c.2244+9C>T
|
rs759349551
|
0.00027
|
NM_033380.3(COL4A5):c.2917+18T>C
|
rs376067886
|
0.00023
|
NM_033380.3(COL4A5):c.2400T>C (p.Asp800=)
|
rs372505008
|
0.00021
|
NM_033380.3(COL4A5):c.4015+5T>C
|
rs190856675
|
0.00020
|
NM_033380.3(COL4A5):c.1979C>T (p.Thr660Ile)
|
rs780612276
|
0.00019
|
NM_033380.3(COL4A5):c.4117C>A (p.Gln1373Lys)
|
rs147447379
|
0.00014
|
NM_033380.3(COL4A5):c.2571A>G (p.Gly857=)
|
rs41311553
|
0.00012
|
NM_033380.3(COL4A5):c.4315+9A>T
|
rs764116323
|
0.00012
|
NM_033380.3(COL4A5):c.488T>C (p.Met163Thr)
|
rs142503631
|
0.00012
|
NM_033380.3(COL4A5):c.4075A>G (p.Ile1359Val)
|
rs748850424
|
0.00009
|
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.1497A>G (p.Pro499=)
|
rs772348542
|
0.00007
|
NM_033380.3(COL4A5):c.3247-10G>A
|
rs369817184
|
0.00007
|
NM_033380.3(COL4A5):c.646-6C>T
|
rs200151467
|
0.00007
|
NM_033380.3(COL4A5):c.4898C>T (p.Ala1633Val)
|
rs982188184
|
0.00006
|
NM_033380.3(COL4A5):c.528A>G (p.Pro176=)
|
rs780845413
|
0.00006
|
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp)
|
rs104886142
|
0.00005
|
NM_033380.3(COL4A5):c.2348C>T (p.Pro783Leu)
|
rs747288279
|
0.00005
|
NM_033380.3(COL4A5):c.4309C>G (p.Gln1437Glu)
|
rs143778018
|
0.00005
|
NM_033380.3(COL4A5):c.4414C>T (p.Arg1472Cys)
|
rs746184634
|
0.00005
|
NM_033380.3(COL4A5):c.271A>G (p.Ile91Val)
|
rs919113147
|
0.00004
|
NM_033380.3(COL4A5):c.3993C>T (p.Leu1331=)
|
rs751858178
|
0.00004
|
NM_033380.3(COL4A5):c.1469C>T (p.Ser490Leu)
|
rs764543034
|
0.00003
|
NM_033380.3(COL4A5):c.1909C>A (p.Gln637Lys)
|
rs368347660
|
0.00003
|
NM_033380.3(COL4A5):c.2797C>T (p.Leu933Phe)
|
rs191497639
|
0.00003
|
NM_033380.3(COL4A5):c.892-4A>G
|
rs777914438
|
0.00003
|
NM_033380.3(COL4A5):c.1546G>C (p.Glu516Gln)
|
rs770915647
|
0.00002
|
NM_033380.3(COL4A5):c.231+2T>C
|
rs763538451
|
0.00002
|
NM_033380.3(COL4A5):c.2533A>G (p.Lys845Glu)
|
rs992950790
|
0.00002
|
NM_033380.3(COL4A5):c.4016-16T>G
|
rs775007873
|
0.00002
|
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln)
|
rs104886308
|
0.00002
|
NM_033380.3(COL4A5):c.677A>C (p.Lys226Thr)
|
rs991159149
|
0.00002
|
NM_033380.3(COL4A5):c.1276G>A (p.Gly426Arg)
|
rs104886111
|
0.00001
|
NM_033380.3(COL4A5):c.1423+10C>T
|
rs1161395968
|
0.00001
|
NM_033380.3(COL4A5):c.1483C>A (p.Gln495Lys)
|
rs757877136
|
0.00001
|
NM_033380.3(COL4A5):c.2466A>G (p.Gly822=)
|
rs375746429
|
0.00001
|
NM_033380.3(COL4A5):c.2516A>G (p.His839Arg)
|
rs1272041306
|
0.00001
|
NM_033380.3(COL4A5):c.2667T>C (p.Ser889=)
|
rs1258505968
|
0.00001
|
NM_033380.3(COL4A5):c.3508G>A (p.Gly1170Ser)
|
rs104886237
|
0.00001
|
NM_033380.3(COL4A5):c.4315+1G>A
|
rs587776403
|
0.00001
|
NM_033380.3(COL4A5):c.436C>A (p.Pro146Thr)
|
rs764933317
|
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_033380.3(COL4A5):c.779A>G (p.Gln260Arg)
|
rs372889859
|
0.00001
|
GRCh37/hg19 Xq22.3(chrX:107683053-107940795)
|
|
|
GRCh37/hg19 Xq22.3(chrX:107802273-107802403)
|
|
|
NM_033380.3(COL4A5):c.1032+17del
|
rs761615270
|
|
NM_033380.3(COL4A5):c.1117C>T (p.Arg373Ter)
|
rs104886094
|
|
NM_033380.3(COL4A5):c.1120G>A (p.Gly374Arg)
|
rs2066342176
|
|
NM_033380.3(COL4A5):c.1217G>T (p.Gly406Val)
|
rs104886100
|
|
NM_033380.3(COL4A5):c.1226G>C (p.Gly409Ala)
|
rs104886101
|
|
NM_033380.3(COL4A5):c.1235G>A (p.Gly412Glu)
|
rs104886102
|
|
NM_033380.3(COL4A5):c.1339+1G>A
|
rs878853114
|
|
NM_033380.3(COL4A5):c.1424-20T>A
|
rs281874668
|
|
NM_033380.3(COL4A5):c.1432G>T (p.Gly478Cys)
|
rs764743086
|
|
NM_033380.3(COL4A5):c.1530C>T (p.Phe510=)
|
rs2147809019
|
|
NM_033380.3(COL4A5):c.1543G>A (p.Gly515Arg)
|
rs2147809070
|
|
NM_033380.3(COL4A5):c.1727G>A (p.Gly576Asp)
|
rs2147810410
|
|
NM_033380.3(COL4A5):c.1877G>T (p.Gly626Val)
|
rs104886143
|
|
NM_033380.3(COL4A5):c.2042-2A>G
|
rs2066636714
|
|
NM_033380.3(COL4A5):c.2057del (p.Pro686fs)
|
rs104886167
|
|
NM_033380.3(COL4A5):c.2244+1G>T
|
rs281874688
|
|
NM_033380.3(COL4A5):c.2396-1G>C
|
rs886041509
|
|
NM_033380.3(COL4A5):c.2466ACCACCAGG[1] (p.823PPG[1])
|
rs104886356
|
|
NM_033380.3(COL4A5):c.2500G>C (p.Gly834Arg)
|
rs281874696
|
|
NM_033380.3(COL4A5):c.2501G>T (p.Gly834Val)
|
rs2147850123
|
|
NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg)
|
rs104886189
|
|
NM_033380.3(COL4A5):c.2633G>A (p.Gly878Glu)
|
rs104886199
|
|
NM_033380.3(COL4A5):c.2723G>A (p.Gly908Glu)
|
rs878853089
|
|
NM_033380.3(COL4A5):c.2794G>A (p.Gly932Arg)
|
rs2147865597
|
|
NM_033380.3(COL4A5):c.2804G>A (p.Gly935Asp)
|
rs104886195
|
|
NM_033380.3(COL4A5):c.2833G>T (p.Glu945Ter)
|
rs2147865716
|
|
NM_033380.3(COL4A5):c.3016+2T>C
|
rs2147869403
|
|
NM_033380.3(COL4A5):c.3088G>A (p.Gly1030Ser)
|
rs104886210
|
|
NM_033380.3(COL4A5):c.3107G>A (p.Gly1036Glu)
|
rs104886212
|
|
NM_033380.3(COL4A5):c.3152G>T (p.Gly1051Val)
|
rs1603298993
|
|
NM_033380.3(COL4A5):c.3197G>T (p.Gly1066Val)
|
rs104886221
|
|
NM_033380.3(COL4A5):c.3293G>A (p.Gly1098Asp)
|
rs1603306716
|
|
NM_033380.3(COL4A5):c.3346G>A (p.Gly1116Arg)
|
rs2147935344
|
|
NM_033380.3(COL4A5):c.3347G>T (p.Gly1116Val)
|
rs281874713
|
|
NM_033380.3(COL4A5):c.3357C>A (p.Gly1119=)
|
rs773019423
|
|
NM_033380.3(COL4A5):c.3409G>T (p.Gly1137Cys)
|
rs1569505374
|
|
NM_033380.3(COL4A5):c.3410G>A (p.Gly1137Asp)
|
rs1131691795
|
|
NM_033380.3(COL4A5):c.3427G>A (p.Gly1143Ser)
|
rs104886228
|
|
NM_033380.3(COL4A5):c.3445G>C (p.Gly1149Arg)
|
rs2147953060
|
|
NM_033380.3(COL4A5):c.3509G>A (p.Gly1170Asp)
|
rs1060499710
|
|
NM_033380.3(COL4A5):c.3584dup (p.Gly1196fs)
|
rs2147956419
|
|
NM_033380.3(COL4A5):c.3604+3A>T
|
rs1569505614
|
|
NM_033380.3(COL4A5):c.367G>C (p.Gly123Arg)
|
rs1569488426
|
|
NM_033380.3(COL4A5):c.3685G>A (p.Gly1229Ser)
|
rs1569505771
|
|
NM_033380.3(COL4A5):c.3712G>A (p.Gly1238Ser)
|
rs2147959471
|
|
NM_033380.3(COL4A5):c.3721G>T (p.Gly1241Cys)
|
rs104886255
|
|
NM_033380.3(COL4A5):c.3731G>A (p.Gly1244Asp)
|
rs104886261
|
|
NM_033380.3(COL4A5):c.385G>A (p.Gly129Arg)
|
rs281874722
|
|
NM_033380.3(COL4A5):c.3932dup (p.Gly1312fs)
|
rs2147975121
|
|
NM_033380.3(COL4A5):c.4063del (p.Glu1355fs)
|
rs1556453276
|
|
NM_033380.3(COL4A5):c.4106del (p.Gly1369fs)
|
rs1569507535
|
|
NM_033380.3(COL4A5):c.4247G>A (p.Arg1416His)
|
rs753765957
|
|
NM_033380.3(COL4A5):c.4282C>T (p.Arg1428Cys)
|
rs144282156
|
|
NM_033380.3(COL4A5):c.4316G>A (p.Gly1439Asp)
|
rs281874735
|
|
NM_033380.3(COL4A5):c.4325G>A (p.Gly1442Asp)
|
rs2147991184
|
|
NM_033380.3(COL4A5):c.4342G>C (p.Gly1448Arg)
|
rs104886276
|
|
NM_033380.3(COL4A5):c.4360G>A (p.Gly1454Ser)
|
rs104886279
|
|
NM_033380.3(COL4A5):c.4631G>A (p.Trp1544Ter)
|
rs104886293
|
|
NM_033380.3(COL4A5):c.465+1G>A
|
rs2066070056
|
|
NM_033380.3(COL4A5):c.4706+1G>T
|
rs1569508998
|
|
NM_033380.3(COL4A5):c.4706G>A (p.Arg1569Gln)
|
rs281874743
|
|
NM_033380.3(COL4A5):c.4709G>T (p.Cys1570Phe)
|
rs104886287
|
|
NM_033380.3(COL4A5):c.4769C>T (p.Pro1590Leu)
|
rs281874747
|
|
NM_033380.3(COL4A5):c.4804G>A (p.Gly1602Ser)
|
rs104886424
|
|
NM_033380.3(COL4A5):c.4809T>G (p.Tyr1603Ter)
|
rs104886299
|
|
NM_033380.3(COL4A5):c.4952A>G (p.Tyr1651Cys)
|
rs2068717823
|
|
NM_033380.3(COL4A5):c.4962G>A (p.Trp1654Ter)
|
rs2068718016
|
|
NM_033380.3(COL4A5):c.4964T>G (p.Leu1655Arg)
|
rs104886303
|
|
NM_033380.3(COL4A5):c.4972G>C (p.Val1658Leu)
|
rs2068718130
|
|
NM_033380.3(COL4A5):c.5038C>T (p.Arg1680Ter)
|
rs281874753
|
|
NM_033380.3(COL4A5):c.5047C>T (p.Arg1683Ter)
|
rs104886306
|
|
NM_033380.3(COL4A5):c.5051G>A (p.Cys1684Tyr)
|
rs2148003771
|
|
NM_033380.3(COL4A5):c.511G>C (p.Gly171Arg)
|
rs1556404027
|
|
NM_033380.3(COL4A5):c.530G>A (p.Gly177Asp)
|
rs1569489328
|
|
NM_033380.3(COL4A5):c.574G>T (p.Gly192Trp)
|
rs104886060
|
|
NM_033380.3(COL4A5):c.619G>C (p.Gly207Arg)
|
rs1569490379
|
|
NM_033380.3(COL4A5):c.637G>C (p.Gly213Arg)
|
rs267606310
|
|
NM_033380.3(COL4A5):c.647G>A (p.Gly216Glu)
|
rs104886074
|
|
NM_033380.3(COL4A5):c.698G>C (p.Gly233Ala)
|
rs1569490592
|
|
NM_033380.3(COL4A5):c.796C>T (p.Arg266Ter)
|
rs104886071
|
|
NM_033380.3(COL4A5):c.799G>C (p.Gly267Arg)
|
rs1603283567
|
|
NM_033380.3(COL4A5):c.818G>A (p.Gly273Glu)
|
rs2147776175
|
|
NM_033380.3(COL4A5):c.874G>C (p.Gly292Arg)
|
rs104886073
|
|
NM_033380.3(COL4A5):c.884G>A (p.Gly295Asp)
|
rs104886079
|
|
NM_033380.3(COL4A5):c.891+1G>T
|
rs104886451
|
|
NM_033380.3(COL4A5):c.892-16del
|
rs775131776
|
|
NM_033380.3(COL4A5):c.919G>A (p.Gly307Ser)
|
rs2147777425
|
|
NM_033380.3(COL4A5):c.91G>T (p.Gly31Trp)
|
rs2147657533
|
|
NM_033380.3(COL4A5):c.935del (p.Pro312fs)
|
rs1556407078
|
|
NM_033380.3(COL4A5):c.973G>A (p.Gly325Arg)
|
rs104886088
|
|