NM_033380.3(COL4A5):c.2692A>G (p.Met898Val)
|
rs104886192
|
0.00017
|
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp)
|
rs104886142
|
0.00005
|
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln)
|
rs104886308
|
0.00002
|
NM_033380.3(COL4A5):c.1276G>A (p.Gly426Arg)
|
rs104886111
|
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
|
COL4A5, 10-15-KB INS, 40-KB DEL
|
|
|
GRCh37/hg19 Xq22.3(chrX:107683053-107940795)
|
|
|
GRCh37/hg19 Xq22.3(chrX:107683356-107683436)
|
|
|
GRCh37/hg19 Xq22.3(chrX:107802035-107802303)
|
|
|
Multiple alleles
|
|
|
NG_011977.2:g.(239831_242576)_(252772_257824)del
|
|
|
NG_011977.2:g.(246966_251107)_?del
|
|
|
NG_011977.2:g.?_(146097_162513)del
|
|
|
NM_000495.5(COL4A5):c.321+5G>A
|
rs2147746317
|
|
NM_033380.2(COL4A5):c.[866G>T;4282C>T]
|
|
|
NM_033380.3(COL4A5):c.1001G>A (p.Gly334Asp)
|
rs104886093
|
|
NM_033380.3(COL4A5):c.1010G>T (p.Gly337Val)
|
rs869025334
|
|
NM_033380.3(COL4A5):c.1033-1G>A
|
rs2066339336
|
|
NM_033380.3(COL4A5):c.1033-2A>G
|
rs2147787964
|
|
NM_033380.3(COL4A5):c.107C>A (p.Ser36Ter)
|
|
|
NM_033380.3(COL4A5):c.1094G>A (p.Gly365Glu)
|
rs104886096
|
|
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.1132_1138del (p.Ile378fs)
|
rs1569492147
|
|
NM_033380.3(COL4A5):c.1138G>T (p.Gly380Cys)
|
rs2066342908
|
|
NM_033380.3(COL4A5):c.1217G>T (p.Gly406Val)
|
rs104886100
|
|
NM_033380.3(COL4A5):c.1226G>A (p.Gly409Asp)
|
rs104886101
|
|
NM_033380.3(COL4A5):c.1235G>A (p.Gly412Glu)
|
rs104886102
|
|
NM_033380.3(COL4A5):c.1340-2A>G
|
rs104886319
|
|
NM_033380.3(COL4A5):c.1374delinsTT (p.Pro459fs)
|
rs2147798059
|
|
NM_033380.3(COL4A5):c.1376dup (p.Gly460fs)
|
rs104886113
|
|
NM_033380.3(COL4A5):c.1402C>T (p.Gln468Ter)
|
rs1603287820
|
|
NM_033380.3(COL4A5):c.141+1G>A
|
rs2065509989
|
|
NM_033380.3(COL4A5):c.1418_1419del (p.Val473fs)
|
rs2147798228
|
|
NM_033380.3(COL4A5):c.1423G>A (p.Gly475Ser)
|
rs281874667
|
|
NM_033380.3(COL4A5):c.1424-20T>A
|
rs281874668
|
|
NM_033380.3(COL4A5):c.1424-2A>C
|
rs759179999
|
|
NM_033380.3(COL4A5):c.1480G>T (p.Gly494Cys)
|
rs1569493662
|
|
NM_033380.3(COL4A5):c.1481del (p.Gly494fs)
|
|
|
NM_033380.3(COL4A5):c.1483dup (p.Gln495fs)
|
rs1556411631
|
|
NM_033380.3(COL4A5):c.153del (p.Pro53fs)
|
rs2147722166
|
|
NM_033380.3(COL4A5):c.1545_1546del (p.Glu516fs)
|
rs2147809078
|
|
NM_033380.3(COL4A5):c.1561G>T (p.Gly521Cys)
|
rs104886121
|
|
NM_033380.3(COL4A5):c.1562G>A (p.Gly521Asp)
|
rs104886122
|
|
NM_033380.3(COL4A5):c.1589G>A (p.Gly530Asp)
|
rs281874671
|
|
NM_033380.3(COL4A5):c.160G>C (p.Gly54Arg)
|
|
|
NM_033380.3(COL4A5):c.161G>A (p.Gly54Asp)
|
rs104886043
|
|
NM_033380.3(COL4A5):c.1648dup (p.Ile550fs)
|
rs1603290131
|
|
NM_033380.3(COL4A5):c.1673G>A (p.Gly558Asp)
|
rs1603290148
|
|
NM_033380.3(COL4A5):c.1690G>T (p.Gly564Cys)
|
rs281874674
|
|
NM_033380.3(COL4A5):c.1718G>T (p.Gly573Val)
|
|
|
NM_033380.3(COL4A5):c.1768A>T (p.Lys590Ter)
|
rs368137679
|
|
NM_033380.3(COL4A5):c.1780-1G>T
|
rs104886338
|
|
NM_033380.3(COL4A5):c.1807G>A (p.Gly603Ser)
|
rs1603290681
|
|
NM_033380.3(COL4A5):c.1817G>A (p.Gly606Glu)
|
rs2147813326
|
|
NM_033380.3(COL4A5):c.1843G>A (p.Gly615Arg)
|
rs1569494304
|
|
NM_033380.3(COL4A5):c.1871G>T (p.Gly624Val)
|
rs104886142
|
|
NM_033380.3(COL4A5):c.188dup (p.Phe64fs)
|
rs1603276159
|
|
NM_033380.3(COL4A5):c.1902del (p.Gly635fs)
|
rs1603290763
|
|
NM_033380.3(COL4A5):c.1904G>T (p.Gly635Val)
|
rs281874683
|
|
NM_033380.3(COL4A5):c.1912G>A (p.Gly638Ser)
|
rs104886147
|
|
NM_033380.3(COL4A5):c.1933C>T (p.Gln645Ter)
|
rs1603290796
|
|
NM_033380.3(COL4A5):c.1976_1977del (p.Ile659fs)
|
rs1603291770
|
|
NM_033380.3(COL4A5):c.1A>G (p.Met1Val)
|
rs104886050
|
|
NM_033380.3(COL4A5):c.2016_2020dup (p.Asp674fs)
|
rs2147819501
|
|
NM_033380.3(COL4A5):c.2039del (p.Pro680fs)
|
rs2066627184
|
|
NM_033380.3(COL4A5):c.2048_2050del (p.Pro683_Gly684delinsArg)
|
rs1603292021
|
|
NM_033380.3(COL4A5):c.2048del (p.Pro683fs)
|
rs1060499694
|
|
NM_033380.3(COL4A5):c.2057del (p.Pro686fs)
|
rs104886167
|
|
NM_033380.3(COL4A5):c.2087G>A (p.Gly696Asp)
|
rs2147820991
|
|
NM_033380.3(COL4A5):c.2146G>A (p.Gly716Ser)
|
rs104886161
|
|
NM_033380.3(COL4A5):c.2165G>A (p.Gly722Glu)
|
rs104886163
|
|
NM_033380.3(COL4A5):c.2244+1G>T
|
rs281874688
|
|
NM_033380.3(COL4A5):c.2245G>A (p.Gly749Ser)
|
|
|
NM_033380.3(COL4A5):c.225del (p.Gln76fs)
|
rs1603276180
|
|
NM_033380.3(COL4A5):c.2288G>A (p.Gly763Glu)
|
rs281874689
|
|
NM_033380.3(COL4A5):c.2300dup (p.Lys768fs)
|
rs1603293553
|
|
NM_033380.3(COL4A5):c.2314G>A (p.Gly772Ser)
|
rs1603293570
|
|
NM_033380.3(COL4A5):c.232-2A>G
|
rs2065933012
|
|
NM_033380.3(COL4A5):c.2333G>A (p.Gly778Asp)
|
rs2066736770
|
|
NM_033380.3(COL4A5):c.2359G>A (p.Gly787Arg)
|
rs1603293605
|
|
NM_033380.3(COL4A5):c.2395+1G>A
|
rs869025331
|
|
NM_033380.3(COL4A5):c.2395+2T>A
|
rs1603293639
|
|
NM_033380.3(COL4A5):c.2396-1G>C
|
rs886041509
|
|
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.2509+2T>G
|
rs1569497030
|
|
NM_033380.3(COL4A5):c.2510-1G>T
|
rs770451831
|
|
NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg)
|
rs104886189
|
|
NM_033380.3(COL4A5):c.2606G>T (p.Gly869Val)
|
rs1603297334
|
|
NM_033380.3(COL4A5):c.2633G>A (p.Gly878Glu)
|
rs104886199
|
|
NM_033380.3(COL4A5):c.2741G>A (p.Gly914Asp)
|
rs869025332
|
|
NM_033380.3(COL4A5):c.2766del (p.Gly923fs)
|
rs886039890
|
|
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.2892_2899dup (p.Gly967fs)
|
rs2067083148
|
|
NM_033380.3(COL4A5):c.2902dup (p.Glu968fs)
|
|
|
NM_033380.3(COL4A5):c.2917+1G>A
|
rs104886371
|
|
NM_033380.3(COL4A5):c.2917+1G>C
|
rs104886371
|
|
NM_033380.3(COL4A5):c.2917+2T>A
|
|
|
NM_033380.3(COL4A5):c.2918-1G>A
|
rs104886372
|
|
NM_033380.3(COL4A5):c.2974C>T (p.Gln992Ter)
|
rs2147869275
|
|
NM_033380.3(COL4A5):c.2T>A (p.Met1Lys)
|
rs1569469409
|
|
NM_033380.3(COL4A5):c.3016+1G>A
|
|
|
NM_033380.3(COL4A5):c.3032del (p.Pro1011fs)
|
|
|
NM_033380.3(COL4A5):c.3088G>A (p.Gly1030Ser)
|
rs104886210
|
|
NM_033380.3(COL4A5):c.3097G>T (p.Gly1033Cys)
|
|
|
NM_033380.3(COL4A5):c.3107G>A (p.Gly1036Glu)
|
rs104886212
|
|
NM_033380.3(COL4A5):c.3119_3120delinsA (p.Val1040fs)
|
rs2067151490
|
|
NM_033380.3(COL4A5):c.311del (p.Pro104fs)
|
rs1603278993
|
|
NM_033380.3(COL4A5):c.3177del (p.Gly1060fs)
|
rs1569499015
|
|
NM_033380.3(COL4A5):c.3178G>T (p.Gly1060Ter)
|
rs104886217
|
|
NM_033380.3(COL4A5):c.3181C>T (p.Gln1061Ter)
|
rs104886213
|
|
NM_033380.3(COL4A5):c.3196G>A (p.Gly1066Ser)
|
rs104886219
|
|
NM_033380.3(COL4A5):c.3197G>A (p.Gly1066Asp)
|
rs104886221
|
|
NM_033380.3(COL4A5):c.3197G>T (p.Gly1066Val)
|
rs104886221
|
|
NM_033380.3(COL4A5):c.3206G>T (p.Gly1069Val)
|
rs281874712
|
|
NM_033380.3(COL4A5):c.321+2T>G
|
rs1603279005
|
|
NM_033380.3(COL4A5):c.322-1G>T
|
rs104886375
|
|
NM_033380.3(COL4A5):c.3247-1G>A
|
rs1569504056
|
|
NM_033380.3(COL4A5):c.3295del (p.Ser1099fs)
|
rs1603306718
|
|
NM_033380.3(COL4A5):c.3314T>A (p.Leu1105Ter)
|
rs1556439394
|
|
NM_033380.3(COL4A5):c.3319G>A (p.Gly1107Arg)
|
rs104886225
|
|
NM_033380.3(COL4A5):c.3319G>T (p.Gly1107Ter)
|
rs104886225
|
|
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.3428G>A (p.Gly1143Asp)
|
rs104886229
|
|
NM_033380.3(COL4A5):c.3455-9A>G
|
rs104886388
|
|
NM_033380.3(COL4A5):c.3475C>T (p.Gln1159Ter)
|
rs1603310370
|
|
NM_033380.3(COL4A5):c.347del (p.Pro116fs)
|
rs2147746687
|
|
NM_033380.3(COL4A5):c.3481G>C (p.Gly1161Arg)
|
rs104886235
|
|
NM_033380.3(COL4A5):c.3482G>A (p.Gly1161Glu)
|
rs1603310380
|
|
NM_033380.3(COL4A5):c.3487_3488delinsG (p.Pro1163fs)
|
rs1057516187
|
|
NM_033380.3(COL4A5):c.3511C>T (p.Gln1171Ter)
|
rs2068084185
|
|
NM_033380.3(COL4A5):c.3604+2T>A
|
rs1569505613
|
|
NM_033380.3(COL4A5):c.3650G>A (p.Gly1217Asp)
|
rs1569505758
|
|
NM_033380.3(COL4A5):c.3659G>A (p.Gly1220Asp)
|
rs104886251
|
|
NM_033380.3(COL4A5):c.3670G>T (p.Glu1224Ter)
|
rs1290001124
|
|
NM_033380.3(COL4A5):c.367G>A (p.Gly123Arg)
|
rs1569488426
|
|
NM_033380.3(COL4A5):c.3685G>A (p.Gly1229Ser)
|
rs1569505771
|
|
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.3772G>A (p.Gly1258Ser)
|
rs1603311030
|
|
NM_033380.3(COL4A5):c.3791-41A>G
|
|
|
NM_033380.3(COL4A5):c.3819_3881del (p.Pro1274_Gly1294del)
|
rs1556451235
|
|
NM_033380.3(COL4A5):c.385-716G>A
|
|
|
NM_033380.3(COL4A5):c.385G>A (p.Gly129Arg)
|
rs281874722
|
|
NM_033380.3(COL4A5):c.3920del (p.Asp1307fs)
|
rs2068332131
|
|
NM_033380.3(COL4A5):c.3932dup (p.Gly1312fs)
|
rs2147975121
|
|
NM_033380.3(COL4A5):c.4016-1G>A
|
rs797045035
|
|
NM_033380.3(COL4A5):c.4055del (p.Pro1352fs)
|
rs2147980448
|
|
NM_033380.3(COL4A5):c.4063del (p.Glu1355fs)
|
rs1556453276
|
|
NM_033380.3(COL4A5):c.4088-2A>G
|
|
|
NM_033380.3(COL4A5):c.4119_4126del (p.Gln1373fs)
|
rs2068436110
|
|
NM_033380.3(COL4A5):c.4197_4200delinsGGG (p.Pro1401fs)
|
rs1603318154
|
|
NM_033380.3(COL4A5):c.4197del (p.Gly1400fs)
|
rs1603318143
|
|
NM_033380.3(COL4A5):c.4217-1G>A
|
rs587776402
|
|
NM_033380.3(COL4A5):c.4316-1G>T
|
rs281874734
|
|
NM_033380.3(COL4A5):c.4316-20T>A
|
rs2068567564
|
|
NM_033380.3(COL4A5):c.4342G>C (p.Gly1448Arg)
|
rs104886276
|
|
NM_033380.3(COL4A5):c.4377del (p.Gly1460fs)
|
rs1603323174
|
|
NM_033380.3(COL4A5):c.438+1G>A
|
rs1603279819
|
|
NM_033380.3(COL4A5):c.439-1G>A
|
rs2147754967
|
|
NM_033380.3(COL4A5):c.4432del (p.Asp1478fs)
|
|
|
NM_033380.3(COL4A5):c.4441C>T (p.Gln1481Ter)
|
rs1603323278
|
|
NM_033380.3(COL4A5):c.446del (p.Pro149fs)
|
rs104886054
|
|
NM_033380.3(COL4A5):c.4470T>G (p.Tyr1490Ter)
|
rs1603323355
|
|
NM_033380.3(COL4A5):c.4528G>C (p.Gly1510Arg)
|
rs2147991725
|
|
NM_033380.3(COL4A5):c.4543_4544insTTAG (p.Cys1515fs)
|
rs1603326397
|
|
NM_033380.3(COL4A5):c.4628dup (p.Tyr1543Ter)
|
rs2147998586
|
|
NM_033380.3(COL4A5):c.4631G>A (p.Trp1544Ter)
|
rs104886293
|
|
NM_033380.3(COL4A5):c.4631G>C (p.Trp1544Ser)
|
rs104886293
|
|
NM_033380.3(COL4A5):c.465+1G>A
|
rs2066070056
|
|
NM_033380.3(COL4A5):c.465+2T>G
|
rs2066070104
|
|
NM_033380.3(COL4A5):c.4706+1G>T
|
rs1569508998
|
|
NM_033380.3(COL4A5):c.4706+2T>C
|
rs2147998807
|
|
NM_033380.3(COL4A5):c.4706G>A (p.Arg1569Gln)
|
rs281874743
|
|
NM_033380.3(COL4A5):c.4709G>C (p.Cys1570Ser)
|
rs104886287
|
|
NM_033380.3(COL4A5):c.4749_4750del (p.His1583fs)
|
rs1603328025
|
|
NM_033380.3(COL4A5):c.4763del (p.Gln1588fs)
|
rs1057516203
|
|
NM_033380.3(COL4A5):c.4787G>A (p.Trp1596Ter)
|
rs2148001657
|
|
NM_033380.3(COL4A5):c.4789del (p.Asp1597fs)
|
rs1569509234
|
|
NM_033380.3(COL4A5):c.4809T>G (p.Tyr1603Ter)
|
rs104886299
|
|
NM_033380.3(COL4A5):c.4822-10T>C
|
|
|
NM_033380.3(COL4A5):c.4822-1G>T
|
rs1603328372
|
|
NM_033380.3(COL4A5):c.4900_4903del (p.Pro1634fs)
|
rs886039886
|
|
NM_033380.3(COL4A5):c.4925_4986del (p.Gly1642fs)
|
rs2068717187
|
|
NM_033380.3(COL4A5):c.4931G>A (p.Cys1644Tyr)
|
rs104886302
|
|
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.4978_4979insAAAA (p.Val1660fs)
|
rs2148002538
|
|
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.530G>A (p.Gly177Asp)
|
rs1569489328
|
|
NM_033380.3(COL4A5):c.546+1G>A
|
rs104886429
|
|
NM_033380.3(COL4A5):c.546+2T>G
|
rs2066101487
|
|
NM_033380.3(COL4A5):c.546+2dup
|
rs1569489353
|
|
NM_033380.3(COL4A5):c.564_598del (p.Gly189fs)
|
|
|
NM_033380.3(COL4A5):c.569_570del (p.Ile190fs)
|
rs1556405010
|
|
NM_033380.3(COL4A5):c.574G>T (p.Gly192Trp)
|
rs104886060
|
|
NM_033380.3(COL4A5):c.584G>A (p.Gly195Asp)
|
rs104886061
|
|
NM_033380.3(COL4A5):c.609+1G>A
|
rs104886434
|
|
NM_033380.3(COL4A5):c.611G>A (p.Gly204Asp)
|
rs104886063
|
|
NM_033380.3(COL4A5):c.647G>A (p.Gly216Glu)
|
rs104886074
|
|
NM_033380.3(COL4A5):c.659T>A (p.Leu220Ter)
|
rs2066183255
|
|
NM_033380.3(COL4A5):c.665T>G (p.Phe222Cys)
|
rs281874761
|
|
NM_033380.3(COL4A5):c.687+1G>A
|
rs104886440
|
|
NM_033380.3(COL4A5):c.687del (p.Gly230fs)
|
rs1556405926
|
|
NM_033380.3(COL4A5):c.761_762del (p.Glu254fs)
|
rs104886443
|
|
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.82-1G>A
|
|
|
NM_033380.3(COL4A5):c.82G>T (p.Ala28Ser)
|
rs869025333
|
|
NM_033380.3(COL4A5):c.834+2T>G
|
rs1569490932
|
|
NM_033380.3(COL4A5):c.835-2A>G
|
rs1556406859
|
|
NM_033380.3(COL4A5):c.835-9T>A
|
|
|
NM_033380.3(COL4A5):c.845dup (p.Gly283fs)
|
rs2147776527
|
|
NM_033380.3(COL4A5):c.866G>A (p.Gly289Asp)
|
rs104886450
|
|
NM_033380.3(COL4A5):c.874G>C (p.Gly292Arg)
|
rs104886073
|
|
NM_033380.3(COL4A5):c.875del (p.Gly292fs)
|
rs281874768
|
|
NM_033380.3(COL4A5):c.884G>A (p.Gly295Asp)
|
rs104886079
|
|
NM_033380.3(COL4A5):c.917del (p.Asn306fs)
|
rs2066237678
|
|
NM_033380.3(COL4A5):c.973G>A (p.Gly325Arg)
|
rs104886088
|
|
NM_033380.3(COL4A5):c.973G>C (p.Gly325Arg)
|
rs104886088
|
|
NM_033380.3(COL4A5):c.974G>A (p.Gly325Glu)
|
rs104886091
|
|