ClinVar Miner

List of variants in gene COL4A5 studied for Alport syndrome

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 745
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HGVS dbSNP gnomAD frequency
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

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