NM_033380.3(COL4A5):c.1033-72C>T
|
rs2272944
|
0.23733
|
NM_033380.3(COL4A5):c.609+21T>C
|
rs6622333
|
0.18370
|
NM_033380.3(COL4A5):c.1587+136A>G
|
rs4308887
|
0.18242
|
NM_033380.3(COL4A5):c.3513A>G (p.Gln1171=)
|
rs2273051
|
0.14310
|
NM_033380.3(COL4A5):c.2349G>A (p.Pro783=)
|
rs3747408
|
0.11046
|
NM_033380.3(COL4A5):c.1331T>G (p.Ile444Ser)
|
rs2272946
|
0.11020
|
NM_033380.3(COL4A5):c.2055T>C (p.Leu685=)
|
rs7884085
|
0.10905
|
NM_033380.3(COL4A5):c.1095G>C (p.Gly365=)
|
rs2272945
|
0.10302
|
NM_033380.3(COL4A5):c.4293C>T (p.Asp1431=)
|
rs61746140
|
0.10149
|
NM_033380.3(COL4A5):c.438+36G>T
|
rs73526282
|
0.09880
|
NM_033380.3(COL4A5):c.2768-11A>G
|
rs1006269
|
0.09324
|
NM_033380.3(COL4A5):c.3519T>G (p.Gly1173=)
|
rs61735627
|
0.03239
|
NM_033380.3(COL4A5):c.276+69T>C
|
rs149638471
|
0.01263
|
NM_033380.3(COL4A5):c.4500A>G (p.Gly1500=)
|
rs145378707
|
0.00920
|
NM_033380.3(COL4A5):c.1992G>T (p.Lys664Asn)
|
rs34077552
|
0.00745
|
NM_033380.3(COL4A5):c.1289C>A (p.Ala430Asp)
|
rs142883891
|
0.00418
|
NM_033380.3(COL4A5):c.4223C>G (p.Thr1408Ser)
|
rs151278542
|
0.00294
|
NM_033380.3(COL4A5):c.3148C>T (p.Pro1050Ser)
|
rs143945573
|
0.00155
|
NM_033380.3(COL4A5):c.909T>C (p.Asp303=)
|
rs144586397
|
0.00122
|
NM_033380.3(COL4A5):c.2858G>T (p.Gly953Val)
|
rs78972735
|
0.00119
|
NM_033380.3(COL4A5):c.580A>G (p.Ile194Val)
|
rs145970300
|
0.00099
|
NM_033380.3(COL4A5):c.834+8C>A
|
rs201717817
|
0.00066
|
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.2510-33A>G
|
rs104886358
|
0.00039
|
NM_033380.3(COL4A5):c.2768-10T>C
|
rs370284884
|
0.00038
|
NM_033380.3(COL4A5):c.2215C>G (p.Pro739Ala)
|
rs104886164
|
0.00034
|
NM_033380.3(COL4A5):c.3312T>C (p.Gly1104=)
|
rs140829723
|
0.00032
|
NM_033380.3(COL4A5):c.4353A>T (p.Gly1451=)
|
rs146884759
|
0.00028
|
NM_033380.3(COL4A5):c.2244+9C>T
|
rs759349551
|
0.00027
|
NM_033380.3(COL4A5):c.3771A>G (p.Gln1257=)
|
rs148046007
|
0.00025
|
NM_033380.3(COL4A5):c.2979T>G (p.Pro993=)
|
rs41306255
|
0.00024
|
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.3296C>T (p.Ser1099Phe)
|
rs767087695
|
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.2017A>G (p.Arg673Gly)
|
rs200348997
|
0.00017
|
NM_033380.3(COL4A5):c.2692A>G (p.Met898Val)
|
rs104886192
|
0.00017
|
NM_033380.3(COL4A5):c.3029A>G (p.Asn1010Ser)
|
rs151077921
|
0.00015
|
NM_033380.3(COL4A5):c.4117C>A (p.Gln1373Lys)
|
rs147447379
|
0.00014
|
NM_033380.3(COL4A5):c.858T>C (p.Gly286=)
|
rs183837448
|
0.00014
|
NM_033380.3(COL4A5):c.3251A>C (p.Glu1084Ala)
|
rs146873772
|
0.00013
|
NM_033380.3(COL4A5):c.3958C>T (p.Pro1320Ser)
|
rs754836509
|
0.00013
|
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.4072C>A (p.Leu1358Ile)
|
rs143020337
|
0.00011
|
NM_033380.3(COL4A5):c.4087+6A>T
|
rs748429212
|
0.00010
|
NM_033380.3(COL4A5):c.4217-6C>T
|
rs764326196
|
0.00010
|
NM_033380.3(COL4A5):c.568A>G (p.Ile190Val)
|
rs367890539
|
0.00010
|
NM_033380.3(COL4A5):c.861G>A (p.Glu287=)
|
rs41300173
|
0.00010
|
NM_033380.3(COL4A5):c.4075A>G (p.Ile1359Val)
|
rs748850424
|
0.00009
|
NM_033380.3(COL4A5):c.4741G>T (p.Ala1581Ser)
|
rs151130451
|
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.4246C>T (p.Arg1416Cys)
|
rs104886270
|
0.00008
|
NM_033380.3(COL4A5):c.89A>G (p.Tyr30Cys)
|
rs150305490
|
0.00008
|
NM_033380.3(COL4A5):c.1350A>G (p.Ile450Met)
|
rs201481496
|
0.00007
|
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.3403A>G (p.Ile1135Val)
|
rs747614562
|
0.00007
|
NM_033380.3(COL4A5):c.646-6C>T
|
rs200151467
|
0.00007
|
NM_033380.3(COL4A5):c.1586C>A (p.Pro529Gln)
|
rs758983710
|
0.00006
|
NM_033380.3(COL4A5):c.3468T>C (p.His1156=)
|
rs769984503
|
0.00006
|
NM_033380.3(COL4A5):c.3923A>G (p.Gln1308Arg)
|
rs104886399
|
0.00006
|
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.1584A>G (p.Leu528=)
|
rs370355907
|
0.00005
|
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.4209C>T (p.Gly1403=)
|
rs752953167
|
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.1043G>A (p.Arg348Lys)
|
rs377663039
|
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.3993C>T (p.Leu1331=)
|
rs751858178
|
0.00004
|
NM_033380.3(COL4A5):c.443C>T (p.Pro148Leu)
|
rs773404950
|
0.00004
|
NM_033380.3(COL4A5):c.1469C>T (p.Ser490Leu)
|
rs764543034
|
0.00003
|
NM_033380.3(COL4A5):c.1827T>A (p.Gly609=)
|
rs756142410
|
0.00003
|
NM_033380.3(COL4A5):c.1909C>A (p.Gln637Lys)
|
rs368347660
|
0.00003
|
NM_033380.3(COL4A5):c.2604C>T (p.Pro868=)
|
rs781337825
|
0.00003
|
NM_033380.3(COL4A5):c.2797C>T (p.Leu933Phe)
|
rs191497639
|
0.00003
|
NM_033380.3(COL4A5):c.2998G>A (p.Gly1000Arg)
|
rs2067110688
|
0.00003
|
NM_033380.3(COL4A5):c.3647C>T (p.Pro1216Leu)
|
rs1456370485
|
0.00003
|
NM_033380.3(COL4A5):c.3684C>T (p.His1228=)
|
rs369744863
|
0.00003
|
NM_033380.3(COL4A5):c.4175T>C (p.Leu1392Pro)
|
rs754420396
|
0.00003
|
NM_033380.3(COL4A5):c.892-4A>G
|
rs777914438
|
0.00003
|
NM_033380.3(COL4A5):c.1057A>G (p.Ile353Val)
|
rs769214642
|
0.00002
|
NM_033380.3(COL4A5):c.1296G>C (p.Gly432=)
|
rs755291471
|
0.00002
|
NM_033380.3(COL4A5):c.142-6T>C
|
rs1047699266
|
0.00002
|
NM_033380.3(COL4A5):c.1546G>C (p.Glu516Gln)
|
rs770915647
|
0.00002
|
NM_033380.3(COL4A5):c.1810C>A (p.Pro604Thr)
|
rs183934559
|
0.00002
|
NM_033380.3(COL4A5):c.2107A>G (p.Ile703Val)
|
rs104886155
|
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.3493G>A (p.Glu1165Lys)
|
rs771538814
|
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.750A>G (p.Pro250=)
|
rs1163287222
|
0.00002
|
NM_033380.3(COL4A5):c.1276G>A (p.Gly426Arg)
|
rs104886111
|
0.00001
|
NM_033380.3(COL4A5):c.142-4G>T
|
rs780759600
|
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.1635T>G (p.Gly545=)
|
rs1329747854
|
0.00001
|
NM_033380.3(COL4A5):c.213G>A (p.Pro71=)
|
rs764172210
|
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.2362C>T (p.Arg788Cys)
|
rs762935451
|
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.2600T>C (p.Ile867Thr)
|
rs747918142
|
0.00001
|
NM_033380.3(COL4A5):c.2657C>G (p.Ala886Gly)
|
rs367714441
|
0.00001
|
NM_033380.3(COL4A5):c.2667T>C (p.Ser889=)
|
rs1258505968
|
0.00001
|
NM_033380.3(COL4A5):c.3084C>T (p.Thr1028=)
|
rs141043288
|
0.00001
|
NM_033380.3(COL4A5):c.314G>C (p.Gly105Ala)
|
rs1569488381
|
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.4315+1G>A
|
rs587776403
|
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_033380.3(COL4A5):c.779A>G (p.Gln260Arg)
|
rs372889859
|
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)
|
|
|
GRCh37/hg19 Xq22.3(chrX:107802273-107802403)
|
|
|
Multiple alleles
|
|
|
NC_000023.10:g.(107683437_107782975)_(107834875_107838738)del
|
|
|
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_000495.5:c.(3373+1_3374-1)_(3790+1_3791-1)dup
|
|
|
NM_033380.2(COL4A5):c.[866G>T;4282C>T]
|
|
|
NM_033380.3(COL4A5):c.-25_-8dup
|
rs752443408
|
|
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.1032+17del
|
rs761615270
|
|
NM_033380.3(COL4A5):c.1032+17dup
|
rs761615270
|
|
NM_033380.3(COL4A5):c.1032+25G>A
|
rs58190747
|
|
NM_033380.3(COL4A5):c.1032+3_1032+6del
|
rs104886314
|
|
NM_033380.3(COL4A5):c.1033-15del
|
rs104886089
|
|
NM_033380.3(COL4A5):c.1033-1G>A
|
rs2066339336
|
|
NM_033380.3(COL4A5):c.1033-2A>G
|
rs2147787964
|
|
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.1075G>T (p.Gly359Ter)
|
rs1569492122
|
|
NM_033380.3(COL4A5):c.107C>A (p.Ser36Ter)
|
|
|
NM_033380.3(COL4A5):c.1090C>T (p.Pro364Ser)
|
rs2147788213
|
|
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.1129G>A (p.Gly377Arg)
|
rs1603286154
|
|
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.1147G>C (p.Gly383Arg)
|
rs1569492161
|
|
NM_033380.3(COL4A5):c.1166-1G>A
|
rs1569492951
|
|
NM_033380.3(COL4A5):c.1198G>T (p.Gly400Ter)
|
rs2066424636
|
|
NM_033380.3(COL4A5):c.1199G>A (p.Gly400Glu)
|
rs104886107
|
|
NM_033380.3(COL4A5):c.1217G>T (p.Gly406Val)
|
rs104886100
|
|
NM_033380.3(COL4A5):c.1225G>A (p.Gly409Ser)
|
rs2066425550
|
|
NM_033380.3(COL4A5):c.1226G>A (p.Gly409Asp)
|
rs104886101
|
|
NM_033380.3(COL4A5):c.1226G>C (p.Gly409Ala)
|
rs104886101
|
|
NM_033380.3(COL4A5):c.1234G>C (p.Gly412Arg)
|
rs2066425897
|
|
NM_033380.3(COL4A5):c.1235G>A (p.Gly412Glu)
|
rs104886102
|
|
NM_033380.3(COL4A5):c.1295G>A (p.Gly432Glu)
|
rs2066428351
|
|
NM_033380.3(COL4A5):c.1312G>C (p.Gly438Arg)
|
rs2147797143
|
|
NM_033380.3(COL4A5):c.1332_1335dup (p.Pro446fs)
|
rs2147797210
|
|
NM_033380.3(COL4A5):c.1339+1G>A
|
rs878853114
|
|
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.1378G>T (p.Gly460Ter)
|
rs2066435557
|
|
NM_033380.3(COL4A5):c.137A>G (p.Glu46Gly)
|
rs2147657717
|
|
NM_033380.3(COL4A5):c.1387G>C (p.Gly463Arg)
|
rs1556410516
|
|
NM_033380.3(COL4A5):c.1395del (p.Gly466fs)
|
|
|
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.1423+1G>T
|
rs104886312
|
|
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.1432G>T (p.Gly478Cys)
|
rs764743086
|
|
NM_033380.3(COL4A5):c.1443C>A (p.Cys481Ter)
|
|
|
NM_033380.3(COL4A5):c.1480G>C (p.Gly494Arg)
|
rs1569493662
|
|
NM_033380.3(COL4A5):c.1480G>T (p.Gly494Cys)
|
rs1569493662
|
|
NM_033380.3(COL4A5):c.1481G>A (p.Gly494Asp)
|
rs104886118
|
|
NM_033380.3(COL4A5):c.1481del (p.Gly494fs)
|
|
|
NM_033380.3(COL4A5):c.1482_1483del (p.Gln495fs)
|
|
|
NM_033380.3(COL4A5):c.1483dup (p.Gln495fs)
|
rs1556411631
|
|
NM_033380.3(COL4A5):c.1498G>C (p.Gly500Arg)
|
rs281874670
|
|
NM_033380.3(COL4A5):c.1499G>T (p.Gly500Val)
|
rs1569493670
|
|
NM_033380.3(COL4A5):c.1520C>A (p.Ser507Tyr)
|
rs1114167369
|
|
NM_033380.3(COL4A5):c.1525G>C (p.Gly509Arg)
|
rs754223700
|
|
NM_033380.3(COL4A5):c.1530C>T (p.Phe510=)
|
rs2147809019
|
|
NM_033380.3(COL4A5):c.1532del (p.Pro511fs)
|
rs2066528020
|
|
NM_033380.3(COL4A5):c.153del (p.Pro53fs)
|
rs2147722166
|
|
NM_033380.3(COL4A5):c.1543G>A (p.Gly515Arg)
|
rs2147809070
|
|
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.1584_1587+6del
|
|
|
NM_033380.3(COL4A5):c.1588-10C>G
|
rs1603290097
|
|
NM_033380.3(COL4A5):c.1589G>A (p.Gly530Asp)
|
rs281874671
|
|
NM_033380.3(COL4A5):c.1603C>T (p.Pro535Ser)
|
rs2147809975
|
|
NM_033380.3(COL4A5):c.160G>C (p.Gly54Arg)
|
|
|
NM_033380.3(COL4A5):c.161G>A (p.Gly54Asp)
|
rs104886043
|
|
NM_033380.3(COL4A5):c.1625G>T (p.Gly542Val)
|
|
|
NM_033380.3(COL4A5):c.1634G>A (p.Gly545Asp)
|
|
|
NM_033380.3(COL4A5):c.1643G>A (p.Gly548Asp)
|
rs281874673
|
|
NM_033380.3(COL4A5):c.1648dup (p.Ile550fs)
|
rs1603290131
|
|
NM_033380.3(COL4A5):c.1673G>A (p.Gly558Asp)
|
rs1603290148
|
|
NM_033380.3(COL4A5):c.1683A>T (p.Gly561=)
|
rs1569494020
|
|
NM_033380.3(COL4A5):c.1690G>C (p.Gly564Arg)
|
rs281874674
|
|
NM_033380.3(COL4A5):c.1690G>T (p.Gly564Cys)
|
rs281874674
|
|
NM_033380.3(COL4A5):c.1708G>A (p.Gly570Arg)
|
rs1603290169
|
|
NM_033380.3(COL4A5):c.1718G>T (p.Gly573Val)
|
|
|
NM_033380.3(COL4A5):c.1727G>A (p.Gly576Asp)
|
rs2147810410
|
|
NM_033380.3(COL4A5):c.1736G>A (p.Gly579Glu)
|
rs104886130
|
|
NM_033380.3(COL4A5):c.1748T>A (p.Leu583Ter)
|
|
|
NM_033380.3(COL4A5):c.1751_1756del (p.Pro584_Gly585del)
|
rs1603290199
|
|
NM_033380.3(COL4A5):c.1763_1779+3del
|
rs2066542728
|
|
NM_033380.3(COL4A5):c.1768A>T (p.Lys590Ter)
|
rs368137679
|
|
NM_033380.3(COL4A5):c.1771G>A (p.Gly591Arg)
|
rs1569494061
|
|
NM_033380.3(COL4A5):c.1780-11T>A
|
rs2147813162
|
|
NM_033380.3(COL4A5):c.1780-1G>T
|
rs104886338
|
|
NM_033380.3(COL4A5):c.1799G>T (p.Gly600Val)
|
rs1569494281
|
|
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.1825G>T (p.Gly609Cys)
|
|
|
NM_033380.3(COL4A5):c.1826G>C (p.Gly609Ala)
|
rs104886140
|
|
NM_033380.3(COL4A5):c.182T>A (p.Leu61Ter)
|
rs2065868148
|
|
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.1877G>T (p.Gly626Val)
|
rs104886143
|
|
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.1922G>A (p.Gly641Glu)
|
rs1569494378
|
|
NM_033380.3(COL4A5):c.1930G>T (p.Gly644Cys)
|
rs2147813821
|
|
NM_033380.3(COL4A5):c.1933C>T (p.Gln645Ter)
|
rs1603290796
|
|
NM_033380.3(COL4A5):c.1948+4A>C
|
rs1311897513
|
|
NM_033380.3(COL4A5):c.1949-3_1949delinsAGGATCCCCTGGA
|
|
|
NM_033380.3(COL4A5):c.1967G>A (p.Gly656Asp)
|
rs2066625376
|
|
NM_033380.3(COL4A5):c.1969C>A (p.Gln657Lys)
|
rs1569494866
|
|
NM_033380.3(COL4A5):c.1976_1977del (p.Ile659fs)
|
rs1603291770
|
|
NM_033380.3(COL4A5):c.1997G>A (p.Gly666Asp)
|
rs104886153
|
|
NM_033380.3(COL4A5):c.1A>G (p.Met1Val)
|
rs104886050
|
|
NM_033380.3(COL4A5):c.2005G>T (p.Gly669Cys)
|
rs281874684
|
|
NM_033380.3(COL4A5):c.2016_2020dup (p.Asp674fs)
|
rs2147819501
|
|
NM_033380.3(COL4A5):c.2039del (p.Pro680fs)
|
rs2066627184
|
|
NM_033380.3(COL4A5):c.2042-2A>C
|
rs2066636714
|
|
NM_033380.3(COL4A5):c.2042-2A>G
|
rs2066636714
|
|
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.2086G>C (p.Gly696Arg)
|
rs2147820987
|
|
NM_033380.3(COL4A5):c.2087G>A (p.Gly696Asp)
|
rs2147820991
|
|
NM_033380.3(COL4A5):c.2096G>A (p.Gly699Glu)
|
|
|
NM_033380.3(COL4A5):c.2104G>C (p.Gly702Arg)
|
|
|
NM_033380.3(COL4A5):c.2116A>G (p.Ile706Val)
|
rs1369565068
|
|
NM_033380.3(COL4A5):c.2129G>A (p.Gly710Glu)
|
rs2066640120
|
|
NM_033380.3(COL4A5):c.212C>T (p.Pro71Leu)
|
rs2065868609
|
|
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.216del (p.Pro73fs)
|
|
|
NM_033380.3(COL4A5):c.2180_2183del (p.Pro727fs)
|
|
|
NM_033380.3(COL4A5):c.2183G>A (p.Gly728Glu)
|
rs1603292422
|
|
NM_033380.3(COL4A5):c.219_226del (p.Arg74fs)
|
|
|
NM_033380.3(COL4A5):c.2201del (p.Gly734fs)
|
rs2066663117
|
|
NM_033380.3(COL4A5):c.2202_2204delinsA (p.Leu735fs)
|
|
|
NM_033380.3(COL4A5):c.2237G>A (p.Gly746Glu)
|
rs867625069
|
|
NM_033380.3(COL4A5):c.2244+1G>T
|
rs281874688
|
|
NM_033380.3(COL4A5):c.2245-3A>G
|
rs1603293513
|
|
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.228A>T (p.Gln76His)
|
rs2147722497
|
|
NM_033380.3(COL4A5):c.2300dup (p.Lys768fs)
|
rs1603293553
|
|
NM_033380.3(COL4A5):c.231+1G>T
|
|
|
NM_033380.3(COL4A5):c.2314G>A (p.Gly772Ser)
|
rs1603293570
|
|
NM_033380.3(COL4A5):c.232-2A>G
|
rs2065933012
|
|
NM_033380.3(COL4A5):c.2322del (p.Gly775fs)
|
|
|
NM_033380.3(COL4A5):c.2330G>C (p.Arg777Pro)
|
rs200371339
|
|
NM_033380.3(COL4A5):c.2332G>C (p.Gly778Arg)
|
rs104886174
|
|
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.236A>T (p.Asp79Val)
|
rs775277548
|
|
NM_033380.3(COL4A5):c.2378G>A (p.Gly793Glu)
|
rs1603293624
|
|
NM_033380.3(COL4A5):c.2378G>C (p.Gly793Ala)
|
rs1603293624
|
|
NM_033380.3(COL4A5):c.2392A>T (p.Lys798Ter)
|
rs1298839151
|
|
NM_033380.3(COL4A5):c.2395+1G>A
|
rs869025331
|
|
NM_033380.3(COL4A5):c.2395+2T>A
|
rs1603293639
|
|
NM_033380.3(COL4A5):c.2395+3A>G
|
rs2147832635
|
|
NM_033380.3(COL4A5):c.2396-1G>A
|
rs886041509
|
|
NM_033380.3(COL4A5):c.2396-1G>C
|
rs886041509
|
|
NM_033380.3(COL4A5):c.2396G>A (p.Gly799Asp)
|
rs2147849728
|
|
NM_033380.3(COL4A5):c.2422G>A (p.Gly808Arg)
|
|
|
NM_033380.3(COL4A5):c.2422G>T (p.Gly808Ter)
|
rs2066899099
|
|
NM_033380.3(COL4A5):c.2440G>A (p.Gly814Arg)
|
rs2147849915
|
|
NM_033380.3(COL4A5):c.2464G>A (p.Gly822Arg)
|
rs104886184
|
|
NM_033380.3(COL4A5):c.2465G>T (p.Gly822Val)
|
rs1291655627
|
|
NM_033380.3(COL4A5):c.2466ACCACCAGG[1] (p.823PPG[1])
|
rs104886356
|
|
NM_033380.3(COL4A5):c.2473G>A (p.Gly825Arg)
|
rs281874692
|
|
NM_033380.3(COL4A5):c.2474del (p.Gly825fs)
|
|
|
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.2510-1_2514del
|
rs2147859764
|
|
NM_033380.3(COL4A5):c.2537G>A (p.Gly846Glu)
|
rs1569497690
|
|
NM_033380.3(COL4A5):c.2543C>T (p.Pro848Leu)
|
|
|
NM_033380.3(COL4A5):c.2576del (p.Pro859fs)
|
|
|
NM_033380.3(COL4A5):c.2579G>A (p.Gly860Asp)
|
rs1556419831
|
|
NM_033380.3(COL4A5):c.2587G>A (p.Gly863Ser)
|
rs1603297305
|
|
NM_033380.3(COL4A5):c.2597G>A (p.Gly866Glu)
|
rs104886188
|
|
NM_033380.3(COL4A5):c.2604del (p.Gly869fs)
|
rs1556419850
|
|
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.2615G>C (p.Gly872Ala)
|
rs1556419869
|
|
NM_033380.3(COL4A5):c.2633G>A (p.Gly878Glu)
|
rs104886199
|
|
NM_033380.3(COL4A5):c.2637_2638del (p.Pro880fs)
|
|
|
NM_033380.3(COL4A5):c.2642G>T (p.Gly881Val)
|
rs1556419895
|
|
NM_033380.3(COL4A5):c.2653A>T (p.Lys885Ter)
|
rs2067017511
|
|
NM_033380.3(COL4A5):c.2668G>A (p.Gly890Arg)
|
rs2067018186
|
|
NM_033380.3(COL4A5):c.2668G>T (p.Gly890Ter)
|
|
|
NM_033380.3(COL4A5):c.2677G>A (p.Gly893Ser)
|
rs1569497776
|
|
NM_033380.3(COL4A5):c.2678G>A (p.Gly893Asp)
|
|
|
NM_033380.3(COL4A5):c.2678G>C (p.Gly893Ala)
|
rs397515496
|
|
NM_033380.3(COL4A5):c.2683A>T (p.Lys895Ter)
|
|
|
NM_033380.3(COL4A5):c.2686G>A (p.Gly896Ser)
|
rs1556420349
|
|
NM_033380.3(COL4A5):c.2693_2697del (p.Met898fs)
|
|
|
NM_033380.3(COL4A5):c.2695G>A (p.Gly899Ser)
|
rs1556420358
|
|
NM_033380.3(COL4A5):c.2713G>C (p.Gly905Arg)
|
rs140753501
|
|
NM_033380.3(COL4A5):c.2722G>A (p.Gly908Arg)
|
rs281874703
|
|
NM_033380.3(COL4A5):c.2723G>A (p.Gly908Glu)
|
rs878853089
|
|
NM_033380.3(COL4A5):c.272_275delinsCTTTTAAT (p.Ile91fs)
|
|
|
NM_033380.3(COL4A5):c.2732G>A (p.Gly911Glu)
|
rs104886363
|
|
NM_033380.3(COL4A5):c.2741G>A (p.Gly914Asp)
|
rs869025332
|
|
NM_033380.3(COL4A5):c.276+2dup
|
rs2065934135
|
|
NM_033380.3(COL4A5):c.2764A>T (p.Lys922Ter)
|
rs2067060145
|
|
NM_033380.3(COL4A5):c.2766del (p.Gly923fs)
|
rs886039890
|
|
NM_033380.3(COL4A5):c.2767+3_2767+14del
|
|
|
NM_033380.3(COL4A5):c.2777G>T (p.Gly926Val)
|
rs2147865541
|
|
NM_033380.3(COL4A5):c.2794G>A (p.Gly932Arg)
|
rs2147865597
|
|
NM_033380.3(COL4A5):c.2802dup (p.Gly935fs)
|
rs104886368
|
|
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.287G>T (p.Gly96Val)
|
rs2066011284
|
|
NM_033380.3(COL4A5):c.2892_2899dup (p.Gly967fs)
|
rs2067083148
|
|
NM_033380.3(COL4A5):c.2902dup (p.Glu968fs)
|
|
|
NM_033380.3(COL4A5):c.2910_2912delinsA (p.Leu971fs)
|
|
|
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.2926G>T (p.Gly976Ter)
|
rs2067108651
|
|
NM_033380.3(COL4A5):c.2927G>A (p.Gly976Glu)
|
rs1603298378
|
|
NM_033380.3(COL4A5):c.2949T>A (p.Tyr983Ter)
|
rs2067109223
|
|
NM_033380.3(COL4A5):c.2957T>A (p.Leu986Ter)
|
rs2067109423
|
|
NM_033380.3(COL4A5):c.295G>A (p.Gly99Arg)
|
rs2066011417
|
|
NM_033380.3(COL4A5):c.295_296del (p.Gly99fs)
|
|
|
NM_033380.3(COL4A5):c.2963G>A (p.Gly988Glu)
|
rs1569498623
|
|
NM_033380.3(COL4A5):c.2965_2982del (p.Asp989_Gly994del)
|
rs104886374
|
|
NM_033380.3(COL4A5):c.2974C>T (p.Gln992Ter)
|
rs2147869275
|
|
NM_033380.3(COL4A5):c.2980G>A (p.Gly994Arg)
|
|
|
NM_033380.3(COL4A5):c.2992C>T (p.Gln998Ter)
|
rs756070988
|
|
NM_033380.3(COL4A5):c.2999G>T (p.Gly1000Val)
|
rs281874709
|
|
NM_033380.3(COL4A5):c.2T>A (p.Met1Lys)
|
rs1569469409
|
|
NM_033380.3(COL4A5):c.3002T>A (p.Leu1001Ter)
|
|
|
NM_033380.3(COL4A5):c.3008G>T (p.Gly1003Val)
|
|
|
NM_033380.3(COL4A5):c.3016+1G>A
|
|
|
NM_033380.3(COL4A5):c.3016+2T>C
|
rs2147869403
|
|
NM_033380.3(COL4A5):c.3017-2A>G
|
|
|
NM_033380.3(COL4A5):c.3032del (p.Pro1011fs)
|
|
|
NM_033380.3(COL4A5):c.3043G>T (p.Gly1015Ter)
|
rs2067140465
|
|
NM_033380.3(COL4A5):c.3052G>T (p.Gly1018Cys)
|
rs1603298869
|
|
NM_033380.3(COL4A5):c.3053G>A (p.Gly1018Asp)
|
rs1569498896
|
|
NM_033380.3(COL4A5):c.3053G>T (p.Gly1018Val)
|
|
|
NM_033380.3(COL4A5):c.3073_3081del (p.Leu1025_Gly1027del)
|
|
|
NM_033380.3(COL4A5):c.3088G>A (p.Gly1030Ser)
|
rs104886210
|
|
NM_033380.3(COL4A5):c.3097G>T (p.Gly1033Cys)
|
|
|
NM_033380.3(COL4A5):c.3098G>T (p.Gly1033Val)
|
|
|
NM_033380.3(COL4A5):c.3106+1G>A
|
rs2147872358
|
|
NM_033380.3(COL4A5):c.3107G>A (p.Gly1036Glu)
|
rs104886212
|
|
NM_033380.3(COL4A5):c.3115G>A (p.Gly1039Ser)
|
rs104886214
|
|
NM_033380.3(COL4A5):c.3119_3120delinsA (p.Val1040fs)
|
rs2067151490
|
|
NM_033380.3(COL4A5):c.311del (p.Pro104fs)
|
rs1603278993
|
|
NM_033380.3(COL4A5):c.3142G>A (p.Gly1048Arg)
|
|
|
NM_033380.3(COL4A5):c.3148C>G (p.Pro1050Ala)
|
rs143945573
|
|
NM_033380.3(COL4A5):c.3151G>T (p.Gly1051Ter)
|
rs2067151807
|
|
NM_033380.3(COL4A5):c.3152G>A (p.Gly1051Glu)
|
rs1603298993
|
|
NM_033380.3(COL4A5):c.3152G>T (p.Gly1051Val)
|
rs1603298993
|
|
NM_033380.3(COL4A5):c.3177del (p.Gly1060fs)
|
rs1569499015
|
|
NM_033380.3(COL4A5):c.3178G>T (p.Gly1060Ter)
|
rs104886217
|
|
NM_033380.3(COL4A5):c.3179del (p.Gly1060fs)
|
|
|
NM_033380.3(COL4A5):c.3181C>T (p.Gln1061Ter)
|
rs104886213
|
|
NM_033380.3(COL4A5):c.3194A>G (p.Lys1065Arg)
|
|
|
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.3244A>T (p.Lys1082Ter)
|
rs2067154422
|
|
NM_033380.3(COL4A5):c.3247-1G>A
|
rs1569504056
|
|
NM_033380.3(COL4A5):c.3270C>A (p.Tyr1090Ter)
|
rs2067818573
|
|
NM_033380.3(COL4A5):c.3293G>A (p.Gly1098Asp)
|
rs1603306716
|
|
NM_033380.3(COL4A5):c.3295del (p.Ser1099fs)
|
rs1603306718
|
|
NM_033380.3(COL4A5):c.3304del (p.Asp1102fs)
|
rs1569504068
|
|
NM_033380.3(COL4A5):c.3310G>C (p.Gly1104Arg)
|
rs1569504072
|
|
NM_033380.3(COL4A5):c.3311G>A (p.Gly1104Asp)
|
rs104886224
|
|
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.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.3365G>A (p.Gly1122Glu)
|
|
|
NM_033380.3(COL4A5):c.3371del (p.Pro1124fs)
|
|
|
NM_033380.3(COL4A5):c.3373G>A (p.Gly1125Arg)
|
rs2067822565
|
|
NM_033380.3(COL4A5):c.3374-1G>A
|
rs2068058963
|
|
NM_033380.3(COL4A5):c.3393_3419del (p.Pro1132_Gly1140del)
|
|
|
NM_033380.3(COL4A5):c.3399del (p.Gly1134fs)
|
|
|
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.3428G>A (p.Gly1143Asp)
|
rs104886229
|
|
NM_033380.3(COL4A5):c.3437G>A (p.Gly1146Glu)
|
rs2068061224
|
|
NM_033380.3(COL4A5):c.3445G>C (p.Gly1149Arg)
|
rs2147953060
|
|
NM_033380.3(COL4A5):c.3455-8T>G
|
rs1569505503
|
|
NM_033380.3(COL4A5):c.3455-9A>G
|
rs104886388
|
|
NM_033380.3(COL4A5):c.3460G>T (p.Gly1154Ter)
|
|
|
NM_033380.3(COL4A5):c.3473G>A (p.Gly1158Glu)
|
rs2068082287
|
|
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.3488del (p.Pro1163fs)
|
|
|
NM_033380.3(COL4A5):c.3499G>A (p.Gly1167Ser)
|
rs104886236
|
|
NM_033380.3(COL4A5):c.3499_3504del (p.Gly1167_Lys1168del)
|
|
|
NM_033380.3(COL4A5):c.3508G>C (p.Gly1170Arg)
|
rs104886237
|
|
NM_033380.3(COL4A5):c.3509G>A (p.Gly1170Asp)
|
rs1060499710
|
|
NM_033380.3(COL4A5):c.3511C>T (p.Gln1171Ter)
|
rs2068084185
|
|
NM_033380.3(COL4A5):c.3535G>T (p.Gly1179Ter)
|
rs104886240
|
|
NM_033380.3(COL4A5):c.3553+10_3553+11delinsA
|
|
|
NM_033380.3(COL4A5):c.3553G>C (p.Gly1185Arg)
|
rs1353480777
|
|
NM_033380.3(COL4A5):c.3554-2A>G
|
rs2147956337
|
|
NM_033380.3(COL4A5):c.3554G>A (p.Gly1185Asp)
|
|
|
NM_033380.3(COL4A5):c.3554G>T (p.Gly1185Val)
|
rs2068097992
|
|
NM_033380.3(COL4A5):c.3556C>T (p.Gln1186Ter)
|
rs1381117009
|
|
NM_033380.3(COL4A5):c.3584dup (p.Gly1196fs)
|
rs2147956419
|
|
NM_033380.3(COL4A5):c.3585del (p.Gly1196fs)
|
rs1569505604
|
|
NM_033380.3(COL4A5):c.3588A>G (p.Gly1196=)
|
rs1556445736
|
|
NM_033380.3(COL4A5):c.3604+2T>A
|
rs1569505613
|
|
NM_033380.3(COL4A5):c.3604+3A>T
|
rs1569505614
|
|
NM_033380.3(COL4A5):c.3619G>T (p.Gly1207Ter)
|
rs2068126785
|
|
NM_033380.3(COL4A5):c.3622G>C (p.Gly1208Arg)
|
|
|
NM_033380.3(COL4A5):c.3623G>A (p.Gly1208Glu)
|
rs2068126851
|
|
NM_033380.3(COL4A5):c.3632G>A (p.Gly1211Glu)
|
rs104886247
|
|
NM_033380.3(COL4A5):c.3634dup (p.Ile1212fs)
|
rs2147959089
|
|
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.367G>C (p.Gly123Arg)
|
rs1569488426
|
|
NM_033380.3(COL4A5):c.367G>T (p.Gly123Ter)
|
|
|
NM_033380.3(COL4A5):c.3685G>A (p.Gly1229Ser)
|
rs1569505771
|
|
NM_033380.3(COL4A5):c.3703G>T (p.Gly1235Cys)
|
rs2147959392
|
|
NM_033380.3(COL4A5):c.3704G>T (p.Gly1235Val)
|
rs2068130178
|
|
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.3772G>A (p.Gly1258Ser)
|
rs1603311030
|
|
NM_033380.3(COL4A5):c.3773G>T (p.Gly1258Val)
|
|
|
NM_033380.3(COL4A5):c.3782_3783del (p.Gly1261fs)
|
|
|
NM_033380.3(COL4A5):c.3784A>T (p.Arg1262Ter)
|
|
|
NM_033380.3(COL4A5):c.3784del (p.Arg1262fs)
|
|
|
NM_033380.3(COL4A5):c.3791-41A>G
|
|
|
NM_033380.3(COL4A5):c.3791G>T (p.Gly1264Val)
|
rs2147963152
|
|
NM_033380.3(COL4A5):c.3808+17G>A
|
rs1603312557
|
|
NM_033380.3(COL4A5):c.3809G>A (p.Gly1270Asp)
|
rs2147974770
|
|
NM_033380.3(COL4A5):c.3817G>A (p.Gly1273Ser)
|
rs2147974808
|
|
NM_033380.3(COL4A5):c.3819_3881del (p.Pro1274_Gly1294del)
|
rs1556451235
|
|
NM_033380.3(COL4A5):c.3828_3871del (p.Pro1277fs)
|
|
|
NM_033380.3(COL4A5):c.3829C>A (p.Pro1277Thr)
|
rs761470284
|
|
NM_033380.3(COL4A5):c.384+4A>T
|
rs2147746864
|
|
NM_033380.3(COL4A5):c.385-716G>A
|
|
|
NM_033380.3(COL4A5):c.3850G>T (p.Gly1284Ter)
|
rs2147974914
|
|
NM_033380.3(COL4A5):c.385G>A (p.Gly129Arg)
|
rs281874722
|
|
NM_033380.3(COL4A5):c.3883C>T (p.Gln1295Ter)
|
rs2068330799
|
|
NM_033380.3(COL4A5):c.3898G>A (p.Gly1300Ser)
|
rs2147975020
|
|
NM_033380.3(COL4A5):c.3907G>T (p.Gly1303Cys)
|
rs1327176357
|
|
NM_033380.3(COL4A5):c.3920del (p.Asp1307fs)
|
rs2068332131
|
|
NM_033380.3(COL4A5):c.3932dup (p.Gly1312fs)
|
rs2147975121
|
|
NM_033380.3(COL4A5):c.3940del (p.Gln1314fs)
|
rs2147975180
|
|
NM_033380.3(COL4A5):c.3942+2T>C
|
rs2068333361
|
|
NM_033380.3(COL4A5):c.3942G>A (p.Gln1314=)
|
rs281874724
|
|
NM_033380.3(COL4A5):c.3955dup (p.Arg1319fs)
|
|
|
NM_033380.3(COL4A5):c.3964C>G (p.Leu1322Val)
|
rs762726134
|
|
NM_033380.3(COL4A5):c.3978del (p.Gly1327fs)
|
rs1131692246
|
|
NM_033380.3(COL4A5):c.4016-1G>A
|
rs797045035
|
|
NM_033380.3(COL4A5):c.4021A>T (p.Lys1341Ter)
|
rs2068413590
|
|
NM_033380.3(COL4A5):c.4055del (p.Pro1352fs)
|
rs2147980448
|
|
NM_033380.3(COL4A5):c.4057G>T (p.Glu1353Ter)
|
|
|
NM_033380.3(COL4A5):c.4063del (p.Glu1355fs)
|
rs1556453276
|
|
NM_033380.3(COL4A5):c.406A>G (p.Ser136Gly)
|
rs768580195
|
|
NM_033380.3(COL4A5):c.4087+1G>C
|
|
|
NM_033380.3(COL4A5):c.4088-2A>G
|
|
|
NM_033380.3(COL4A5):c.4097_4098inv (p.Gly1366Val)
|
|
|
NM_033380.3(COL4A5):c.40T>G (p.Leu14Val)
|
rs760570519
|
|
NM_033380.3(COL4A5):c.40_41del (p.Leu14fs)
|
|
|
NM_033380.3(COL4A5):c.4106del (p.Gly1369fs)
|
rs1569507535
|
|
NM_033380.3(COL4A5):c.4119_4126del (p.Gln1373fs)
|
rs2068436110
|
|
NM_033380.3(COL4A5):c.412G>T (p.Gly138Cys)
|
rs767619131
|
|
NM_033380.3(COL4A5):c.4180G>C (p.Gly1394Arg)
|
|
|
NM_033380.3(COL4A5):c.4197_4200delinsGGG (p.Pro1401fs)
|
rs1603318154
|
|
NM_033380.3(COL4A5):c.4197del (p.Gly1400fs)
|
rs1603318143
|
|
NM_033380.3(COL4A5):c.4200A>G (p.Gly1400=)
|
rs1603318167
|
|
NM_033380.3(COL4A5):c.4211T>A (p.Leu1404Ter)
|
|
|
NM_033380.3(COL4A5):c.4217-1G>A
|
rs587776402
|
|
NM_033380.3(COL4A5):c.421G>A (p.Gly141Ser)
|
rs1556403112
|
|
NM_033380.3(COL4A5):c.4222del (p.Thr1408fs)
|
rs2068537554
|
|
NM_033380.3(COL4A5):c.4247G>A (p.Arg1416His)
|
rs753765957
|
|
NM_033380.3(COL4A5):c.427C>T (p.Gln143Ter)
|
rs2147753940
|
|
NM_033380.3(COL4A5):c.4282C>T (p.Arg1428Cys)
|
rs144282156
|
|
NM_033380.3(COL4A5):c.4283G>A (p.Arg1428His)
|
rs2068539626
|
|
NM_033380.3(COL4A5):c.4291_4297delinsCT (p.Asp1431fs)
|
rs2068539903
|
|
NM_033380.3(COL4A5):c.4309C>T (p.Gln1437Ter)
|
rs143778018
|
|
NM_033380.3(COL4A5):c.4313del (p.Pro1438fs)
|
|
|
NM_033380.3(COL4A5):c.4315+2T>A
|
rs2147989449
|
|
NM_033380.3(COL4A5):c.4316-1G>T
|
rs281874734
|
|
NM_033380.3(COL4A5):c.4316-20T>A
|
rs2068567564
|
|
NM_033380.3(COL4A5):c.4316G>A (p.Gly1439Asp)
|
rs281874735
|
|
NM_033380.3(COL4A5):c.4321C>T (p.Arg1441Cys)
|
|
|
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.434C>T (p.Pro145Leu)
|
rs2066063898
|
|
NM_033380.3(COL4A5):c.4352G>A (p.Gly1451Glu)
|
|
|
NM_033380.3(COL4A5):c.4360G>A (p.Gly1454Ser)
|
rs104886279
|
|
NM_033380.3(COL4A5):c.4376dup (p.Gly1460fs)
|
rs2068571470
|
|
NM_033380.3(COL4A5):c.4377del (p.Gly1460fs)
|
rs1603323174
|
|
NM_033380.3(COL4A5):c.4378_4379insA (p.Gly1460fs)
|
|
|
NM_033380.3(COL4A5):c.438+1G>A
|
rs1603279819
|
|
NM_033380.3(COL4A5):c.438+1_438+3dup
|
rs2066064057
|
|
NM_033380.3(COL4A5):c.4389dup (p.Val1464fs)
|
rs1569508360
|
|
NM_033380.3(COL4A5):c.439-1G>A
|
rs2147754967
|
|
NM_033380.3(COL4A5):c.439-24A>T
|
rs2147754904
|
|
NM_033380.3(COL4A5):c.439G>C (p.Gly147Arg)
|
|
|
NM_033380.3(COL4A5):c.439G>T (p.Gly147Ter)
|
rs2066069145
|
|
NM_033380.3(COL4A5):c.4410del (p.Thr1471fs)
|
|
|
NM_033380.3(COL4A5):c.4417C>T (p.His1473Tyr)
|
|
|
NM_033380.3(COL4A5):c.4432del (p.Asp1478fs)
|
|
|
NM_033380.3(COL4A5):c.4441C>T (p.Gln1481Ter)
|
rs1603323278
|
|
NM_033380.3(COL4A5):c.4445G>A (p.Cys1482Tyr)
|
rs1569508382
|
|
NM_033380.3(COL4A5):c.4446C>A (p.Cys1482Ter)
|
|
|
NM_033380.3(COL4A5):c.4455_4465del (p.Thr1486fs)
|
|
|
NM_033380.3(COL4A5):c.4468T>C (p.Tyr1490His)
|
|
|
NM_033380.3(COL4A5):c.446del (p.Pro149fs)
|
rs104886054
|
|
NM_033380.3(COL4A5):c.4470T>G (p.Tyr1490Ter)
|
rs1603323355
|
|
NM_033380.3(COL4A5):c.4475G>T (p.Gly1492Val)
|
rs104886282
|
|
NM_033380.3(COL4A5):c.4504A>T (p.Lys1502Ter)
|
|
|
NM_033380.3(COL4A5):c.4507del (p.Arg1503fs)
|
|
|
NM_033380.3(COL4A5):c.4508G>C (p.Arg1503Thr)
|
rs2147991674
|
|
NM_033380.3(COL4A5):c.4528G>C (p.Gly1510Arg)
|
rs2147991725
|
|
NM_033380.3(COL4A5):c.4529-345A>G
|
rs1569508899
|
|
NM_033380.3(COL4A5):c.4529-6T>C
|
rs775079914
|
|
NM_033380.3(COL4A5):c.4543_4544insTTAG (p.Cys1515fs)
|
rs1603326397
|
|
NM_033380.3(COL4A5):c.4592A>G (p.Asn1531Ser)
|
|
|
NM_033380.3(COL4A5):c.4598G>T (p.Cys1533Phe)
|
|
|
NM_033380.3(COL4A5):c.4599C>T (p.Cys1533=)
|
rs1603326524
|
|
NM_033380.3(COL4A5):c.4609_4610del (p.Ser1537fs)
|
|
|
NM_033380.3(COL4A5):c.4618del (p.Asp1540fs)
|
rs1603326561
|
|
NM_033380.3(COL4A5):c.4628dup (p.Tyr1543Ter)
|
rs2147998586
|
|
NM_033380.3(COL4A5):c.462G>A (p.Met154Ile)
|
rs2066069939
|
|
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.4652T>C (p.Met1551Thr)
|
rs1057518146
|
|
NM_033380.3(COL4A5):c.466-12G>A
|
rs104886414
|
|
NM_033380.3(COL4A5):c.466G>C (p.Gly156Arg)
|
rs2147759184
|
|
NM_033380.3(COL4A5):c.469G>T (p.Glu157Ter)
|
|
|
NM_033380.3(COL4A5):c.4705C>T (p.Arg1569Ter)
|
rs104886286
|
|
NM_033380.3(COL4A5):c.4706+1G>T
|
rs1569508998
|
|
NM_033380.3(COL4A5):c.4706+2T>C
|
rs2147998807
|
|
NM_033380.3(COL4A5):c.4706+4A>C
|
rs1569508999
|
|
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.4709G>T (p.Cys1570Phe)
|
rs104886287
|
|
NM_033380.3(COL4A5):c.4745T>C (p.Val1582Ala)
|
rs2148001550
|
|
NM_033380.3(COL4A5):c.4747C>G (p.His1583Asp)
|
|
|
NM_033380.3(COL4A5):c.4749_4750del (p.His1583fs)
|
rs1603328025
|
|
NM_033380.3(COL4A5):c.4752_4753delinsA (p.Ser1584fs)
|
|
|
NM_033380.3(COL4A5):c.4762C>T (p.Gln1588Ter)
|
|
|
NM_033380.3(COL4A5):c.4763del (p.Gln1588fs)
|
rs1057516203
|
|
NM_033380.3(COL4A5):c.4769C>A (p.Pro1590His)
|
rs281874747
|
|
NM_033380.3(COL4A5):c.4769C>T (p.Pro1590Leu)
|
rs281874747
|
|
NM_033380.3(COL4A5):c.476G>A (p.Gly159Asp)
|
rs2147759208
|
|
NM_033380.3(COL4A5):c.4783G>T (p.Gly1595Ter)
|
|
|
NM_033380.3(COL4A5):c.4787G>A (p.Trp1596Ter)
|
rs2148001657
|
|
NM_033380.3(COL4A5):c.4788G>A (p.Trp1596Ter)
|
rs2148001666
|
|
NM_033380.3(COL4A5):c.4789del (p.Asp1597fs)
|
rs1569509234
|
|
NM_033380.3(COL4A5):c.4804G>A (p.Gly1602Ser)
|
rs104886424
|
|
NM_033380.3(COL4A5):c.4808A>G (p.Tyr1603Cys)
|
rs104886298
|
|
NM_033380.3(COL4A5):c.4809T>G (p.Tyr1603Ter)
|
rs104886299
|
|
NM_033380.3(COL4A5):c.4811C>T (p.Ser1604Phe)
|
rs1569509257
|
|
NM_033380.3(COL4A5):c.4821G>C (p.Met1607Ile)
|
rs104886300
|
|
NM_033380.3(COL4A5):c.4822-10T>C
|
|
|
NM_033380.3(COL4A5):c.4822-1G>T
|
rs1603328372
|
|
NM_033380.3(COL4A5):c.4831G>A (p.Ala1611Thr)
|
rs2068714182
|
|
NM_033380.3(COL4A5):c.4892_4895del (p.Arg1631fs)
|
|
|
NM_033380.3(COL4A5):c.4895C>T (p.Ser1632Leu)
|
rs1556463567
|
|
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.4930T>C (p.Cys1644Arg)
|
rs866393484
|
|
NM_033380.3(COL4A5):c.4931G>A (p.Cys1644Tyr)
|
rs104886302
|
|
NM_033380.3(COL4A5):c.4938C>G (p.Tyr1646Ter)
|
rs2068717619
|
|
NM_033380.3(COL4A5):c.494C>G (p.Ser165Ter)
|
rs2066099798
|
|
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.4970C>A (p.Thr1657Asn)
|
|
|
NM_033380.3(COL4A5):c.4972G>C (p.Val1658Leu)
|
rs2068718130
|
|
NM_033380.3(COL4A5):c.4978_4979insAAAA (p.Val1660fs)
|
rs2148002538
|
|
NM_033380.3(COL4A5):c.4987A>G (p.Met1663Val)
|
rs1316943771
|
|
NM_033380.3(COL4A5):c.4994+1G>A
|
|
|
NM_033380.3(COL4A5):c.4995-1G>T
|
rs2148003624
|
|
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.5074T>A (p.Ter1692Lys)
|
rs2068734296
|
|
NM_033380.3(COL4A5):c.511G>C (p.Gly171Arg)
|
rs1556404027
|
|
NM_033380.3(COL4A5):c.511G>T (p.Gly171Cys)
|
|
|
NM_033380.3(COL4A5):c.515del (p.Asn172fs)
|
|
|
NM_033380.3(COL4A5):c.530G>A (p.Gly177Asp)
|
rs1569489328
|
|
NM_033380.3(COL4A5):c.538G>A (p.Gly180Arg)
|
rs281874755
|
|
NM_033380.3(COL4A5):c.539G>A (p.Gly180Glu)
|
rs2147759475
|
|
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.547-1G>A
|
rs104886431
|
|
NM_033380.3(COL4A5):c.547G>A (p.Gly183Ser)
|
rs1556404985
|
|
NM_033380.3(COL4A5):c.548G>A (p.Gly183Asp)
|
rs104886059
|
|
NM_033380.3(COL4A5):c.554C>G (p.Pro185Arg)
|
|
|
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>A (p.Gly192Arg)
|
rs104886060
|
|
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.584G>T (p.Gly195Val)
|
rs104886061
|
|
NM_033380.3(COL4A5):c.609+1G>A
|
rs104886434
|
|
NM_033380.3(COL4A5):c.609+5G>A
|
|
|
NM_033380.3(COL4A5):c.60G>A (p.Trp20Ter)
|
|
|
NM_033380.3(COL4A5):c.611G>A (p.Gly204Asp)
|
rs104886063
|
|
NM_033380.3(COL4A5):c.619G>A (p.Gly207Ser)
|
rs1569490379
|
|
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.638G>A (p.Gly213Glu)
|
rs104886066
|
|
NM_033380.3(COL4A5):c.638G>T (p.Gly213Val)
|
rs104886066
|
|
NM_033380.3(COL4A5):c.645+1G>T
|
rs1603282474
|
|
NM_033380.3(COL4A5):c.645+3_645+36del
|
|
|
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.670G>A (p.Gly224Arg)
|
rs2147770608
|
|
NM_033380.3(COL4A5):c.671G>T (p.Gly224Val)
|
rs2147770618
|
|
NM_033380.3(COL4A5):c.67_68del (p.Pro23fs)
|
|
|
NM_033380.3(COL4A5):c.681_682del (p.Glu228fs)
|
|
|
NM_033380.3(COL4A5):c.687+1G>A
|
rs104886440
|
|
NM_033380.3(COL4A5):c.687+4A>T
|
|
|
NM_033380.3(COL4A5):c.687+5G>A
|
rs1556405930
|
|
NM_033380.3(COL4A5):c.687del (p.Gly230fs)
|
rs1556405926
|
|
NM_033380.3(COL4A5):c.689G>T (p.Gly230Val)
|
rs281874763
|
|
NM_033380.3(COL4A5):c.694C>T (p.Gln232Ter)
|
|
|
NM_033380.3(COL4A5):c.698G>C (p.Gly233Ala)
|
rs1569490592
|
|
NM_033380.3(COL4A5):c.698G>T (p.Gly233Val)
|
rs1569490592
|
|
NM_033380.3(COL4A5):c.703C>T (p.Gln235Ter)
|
|
|
NM_033380.3(COL4A5):c.707G>A (p.Gly236Asp)
|
rs1556406001
|
|
NM_033380.3(COL4A5):c.710del (p.Pro237fs)
|
|
|
NM_033380.3(COL4A5):c.711_716del (p.Gly239_Pro240del)
|
|
|
NM_033380.3(COL4A5):c.745A>T (p.Arg249Ter)
|
rs2066188778
|
|
NM_033380.3(COL4A5):c.757delinsCT (p.Val253fs)
|
rs2066189282
|
|
NM_033380.3(COL4A5):c.761_762del (p.Glu254fs)
|
rs104886443
|
|
NM_033380.3(COL4A5):c.770_776del (p.Lys257fs)
|
|
|
NM_033380.3(COL4A5):c.796C>T (p.Arg266Ter)
|
rs104886071
|
|
NM_033380.3(COL4A5):c.799G>A (p.Gly267Arg)
|
rs1603283567
|
|
NM_033380.3(COL4A5):c.799G>C (p.Gly267Arg)
|
rs1603283567
|
|
NM_033380.3(COL4A5):c.81+56C>A
|
rs2147448578
|
|
NM_033380.3(COL4A5):c.817G>A (p.Gly273Arg)
|
|
|
NM_033380.3(COL4A5):c.818G>A (p.Gly273Glu)
|
rs2147776175
|
|
NM_033380.3(COL4A5):c.82-1G>A
|
|
|
NM_033380.3(COL4A5):c.827G>T (p.Gly276Val)
|
|
|
NM_033380.3(COL4A5):c.82G>T (p.Ala28Ser)
|
rs869025333
|
|
NM_033380.3(COL4A5):c.830C>T (p.Pro277Leu)
|
rs754849522
|
|
NM_033380.3(COL4A5):c.834+1G>T
|
|
|
NM_033380.3(COL4A5):c.834+2T>G
|
rs1569490932
|
|
NM_033380.3(COL4A5):c.834del (p.Gly279fs)
|
rs2066227699
|
|
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.864G>A (p.Lys288=)
|
rs1263254683
|
|
NM_033380.3(COL4A5):c.865G>A (p.Gly289Ser)
|
rs2066231013
|
|
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.875G>A (p.Gly292Glu)
|
rs104886078
|
|
NM_033380.3(COL4A5):c.875del (p.Gly292fs)
|
rs281874768
|
|
NM_033380.3(COL4A5):c.883G>A (p.Gly295Ser)
|
rs2147776763
|
|
NM_033380.3(COL4A5):c.884G>A (p.Gly295Asp)
|
rs104886079
|
|
NM_033380.3(COL4A5):c.891+1G>T
|
rs104886451
|
|
NM_033380.3(COL4A5):c.891+37A>G
|
rs2294543
|
|
NM_033380.3(COL4A5):c.891+5G>A
|
rs2147776814
|
|
NM_033380.3(COL4A5):c.891_891+1del
|
|
|
NM_033380.3(COL4A5):c.892-16del
|
rs775131776
|
|
NM_033380.3(COL4A5):c.917del (p.Asn306fs)
|
rs2066237678
|
|
NM_033380.3(COL4A5):c.919G>A (p.Gly307Ser)
|
rs2147777425
|
|
NM_033380.3(COL4A5):c.919G>C (p.Gly307Arg)
|
|
|
NM_033380.3(COL4A5):c.91G>T (p.Gly31Trp)
|
rs2147657533
|
|
NM_033380.3(COL4A5):c.929G>A (p.Gly310Glu)
|
rs1556407064
|
|
NM_033380.3(COL4A5):c.929G>T (p.Gly310Val)
|
rs1556407064
|
|
NM_033380.3(COL4A5):c.935del (p.Pro312fs)
|
rs1556407078
|
|
NM_033380.3(COL4A5):c.936+2T>C
|
rs2147777495
|
|
NM_033380.3(COL4A5):c.937G>T (p.Gly313Cys)
|
rs104886084
|
|
NM_033380.3(COL4A5):c.938G>T (p.Gly313Val)
|
rs2147781020
|
|
NM_033380.3(COL4A5):c.938del
|
|
|
NM_033380.3(COL4A5):c.948_949del (p.Asp317fs)
|
|
|
NM_033380.3(COL4A5):c.956G>A (p.Gly319Asp)
|
rs104886086
|
|
NM_033380.3(COL4A5):c.956G>T (p.Gly319Val)
|
|
|
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
|
|
NM_033380.3(COL4A5):c.983G>A (p.Gly328Asp)
|
rs2066274585
|
|
NM_033380.3(COL4A5):c.991-7T>A
|
rs2147784245
|
|