ClinVar Miner

List of variants reported as pathogenic for Alport syndrome 1, X-linked recessive by Research and Development, ARUP Laboratories

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 739
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HGVS dbSNP
1567del9
1685del36
2606-2623del
4245del6, 4241G>A
COL4A5 insertion
COL4A5:c.142-?_231+?del(p.Gly48_Lys77del)
COL4A5:c.2510-?_2677+?del (p.Gly837_Gly893delinsGly)
COL4A5:c.3554-?_3604+?del (p.?)
COL4A5:c.3791-?_3924+?del (p.?)
COL4A5:c.82-?_141+?del (p.Ala28_Lys47del)
NC_000023.10:g.(?_107681416)_(107939608_?)del
NM_000495.3(COL4A5):c.(?_3247)_(3373_?)del (p.(?))
NM_000495.3(COL4A5):c.1-?_3246+?del
NM_000495.3(COL4A5):c.1-?_81+?del
NM_000495.3(COL4A5):c.2918-?_5058+?del
NM_000495.3(COL4A5):c.3374-?_5058+?del
NM_000495.3(COL4A5):c.3605-?_5058+?del
NM_000495.3(COL4A5):c.4689-?_5058+?del
NM_000495.3:c.4253_4262del;4263_4280dup
NM_000495.4(COL4A5):c.(?_-202)-1738_(81_?)del
NM_000495.4(COL4A5):c.(?_-202)-1982_(81_?)del
NM_000495.4(COL4A5):c.1033-?_1516+?del
NM_000495.4(COL4A5):c.1166-?_1423+?del
NM_000495.4(COL4A5):c.1166-?_1516+?del
NM_000495.4(COL4A5):c.1166-?_2041+?del
NM_000495.4(COL4A5):c.142-?_2677+?del
NM_000495.4(COL4A5):c.142-?_3373+?del
NM_000495.4(COL4A5):c.1949-?_3373+?del
NM_000495.4(COL4A5):c.2147-?_2767+?dup621
NM_000495.4(COL4A5):c.2147delG (p.Gly716Alafs) rs104886162
NM_000495.4(COL4A5):c.232-?_2041+?del
NM_000495.4(COL4A5):c.232-?_4510+?del
NM_000495.4(COL4A5):c.232-?_780+?del
NM_000495.4(COL4A5):c.2510-1_2554del rs1569497680
NM_000495.4(COL4A5):c.2510del (p.Gly837Valfs) rs104886181
NM_000495.4(COL4A5):c.2678-?_3246+?del
NM_000495.4(COL4A5):c.277-?_609+?del
NM_000495.4(COL4A5):c.3017-?_3246+?del
NM_000495.4(COL4A5):c.3247-?_5058+?del
NM_000495.4(COL4A5):c.3374-?_3790+?del
NM_000495.4(COL4A5):c.3791-?_4198+?del
NM_000495.4(COL4A5):c.3791-?_4510+?del
NM_000495.4(COL4A5):c.3925-?_4069+?del
NM_000495.4(COL4A5):c.3925-?_4198+?del
NM_000495.4(COL4A5):c.440del (p.Gly147Aspfs) rs104886053
NM_000495.4(COL4A5):c.547dup (p.Leu184Profs) rs104886432
NM_000495.4(COL4A5):c.610_628del (p.Gly204Aspfs) rs104886435
NM_000495.4(COL4A5):c.647_648dup (p.Asn217Glyfs) rs104886438
NM_000495.4(COL4A5):c.648dup (p.Asn217Glufs) rs104886438
NM_000495.4(COL4A5):c.689del (p.Gly230Valfs) rs104886077
NM_000495.4(COL4A5):c.781-?_1423+?del
NM_000495.4(COL4A5):c.82-?_1165+?del
NM_000495.4(COL4A5):c.82-?_1516+?del
NM_000495.4(COL4A5):c.82-?_2395+?del
NM_000495.4(COL4A5):c.82-?_3246+?del
NM_000495.4(COL4A5):c.82-?_3373+?del
NM_000495.4(COL4A5):c.82-?_465+?del
NM_000495.4(COL4A5):c.937-?_990+?del (p.Gly313_Lys330del)
NM_000495.5(COL4A5):c.1060dup (p.Thr354fs) rs281874655
NM_000495.5(COL4A5):c.1062dup (p.Ile355fs) rs104886316
NM_000495.5(COL4A5):c.1213dup (p.Arg405fs) rs281874659
NM_000495.5(COL4A5):c.1376dup (p.Gly460fs) rs104886113
NM_000495.5(COL4A5):c.1757_1770del (p.Leu586fs) rs281874678
NM_000495.5(COL4A5):c.2165G>A (p.Gly722Glu) rs104886163
NM_000495.5(COL4A5):c.2288G>A (p.Gly763Glu) rs281874689
NM_000495.5(COL4A5):c.2708dup (p.Pro904fs) rs104886362
NM_000495.5(COL4A5):c.3326_3327insT (p.Gly1110fs) rs397515492
NM_000495.5(COL4A5):c.3508G>A (p.Gly1170Ser) rs104886237
NM_000495.5(COL4A5):c.3692del (p.Pro1231fs) rs104886254
NM_000495.5(COL4A5):c.3692dup (p.Gly1232fs) rs104886254
NM_000495.5(COL4A5):c.3710_3761del (p.Pro1237fs) rs104886393
NM_000495.5(COL4A5):c.65_77del (p.Gln22fs) rs281874760
NM_000495.5(COL4A5):c.875del (p.Gly292fs) rs281874768
NM_033380.2(COL4A5):c.(?_-129378)_(81_?)del (p.?)
NM_033380.2(COL4A5):c.2587_2606del20ins75
NM_033380.2(COL4A5):c.3403_3418del16ins3 (p.Ile1135fs)
NM_033380.2(COL4A5):c.4316-1G>C (p.?) rs281874734
NM_033380.3(COL4A5):c.1000G>A (p.Gly334Ser) rs1569491729
NM_033380.3(COL4A5):c.1001G>T (p.Gly334Val) rs104886093
NM_033380.3(COL4A5):c.1009G>A (p.Gly337Ser) rs1210495852
NM_033380.3(COL4A5):c.1010G>T (p.Gly337Val) rs869025334
NM_033380.3(COL4A5):c.1032+3_1032+6del rs104886314
NM_033380.3(COL4A5):c.1032+5G>T rs104886315
NM_033380.3(COL4A5):c.1073_1074insC (p.Lys358fs) rs1569492120
NM_033380.3(COL4A5):c.1074del (p.Gly359fs) rs104886095
NM_033380.3(COL4A5):c.1075G>A (p.Gly359Arg) rs1569492122
NM_033380.3(COL4A5):c.1078_1113del (p.Asn360_Gly371del) rs1569492113
NM_033380.3(COL4A5):c.107C>G (p.Ser36Ter) rs759512115
NM_033380.3(COL4A5):c.1084G>A (p.Gly362Arg) rs281874656
NM_033380.3(COL4A5):c.1094G>A (p.Gly365Glu) rs104886096
NM_033380.3(COL4A5):c.1112G>A (p.Gly371Glu) rs104886097
NM_033380.3(COL4A5):c.1117C>T (p.Arg373Ter) rs104886094
NM_033380.3(COL4A5):c.1121G>C (p.Gly374Ala) rs104886108
NM_033380.3(COL4A5):c.1135C>T (p.Gln379Ter) rs281874657
NM_033380.3(COL4A5):c.1139G>A (p.Gly380Asp) rs104886098
NM_033380.3(COL4A5):c.1148G>A (p.Gly383Asp) rs104886105
NM_033380.3(COL4A5):c.1165+1G>A rs104886317
NM_033380.3(COL4A5):c.1165+2T>G rs104886324
NM_033380.3(COL4A5):c.1165G>A (p.Gly389Arg) rs1569492172
NM_033380.3(COL4A5):c.1166-1G>A rs1569492951
NM_033380.3(COL4A5):c.1181del (p.Gly394fs) rs281874658
NM_033380.3(COL4A5):c.1199G>A (p.Gly400Glu) rs104886107
NM_033380.3(COL4A5):c.119del (p.Cys40fs) rs104886042
NM_033380.3(COL4A5):c.1208G>T (p.Gly403Val) rs104886099
NM_033380.3(COL4A5):c.1214_1215insA (p.Gln407fs) rs104886325
NM_033380.3(COL4A5):c.1214_1217dup (p.Gln407fs) rs104886326
NM_033380.3(COL4A5):c.1216G>A (p.Gly406Ser) rs281874660
NM_033380.3(COL4A5):c.1217G>T (p.Gly406Val) rs104886100
NM_033380.3(COL4A5):c.1219C>T (p.Gln407Ter) rs281874661
NM_033380.3(COL4A5):c.1222A>T (p.Lys408Ter) rs281874662
NM_033380.3(COL4A5):c.1226G>A (p.Gly409Asp) rs104886101
NM_033380.3(COL4A5):c.1235G>T (p.Gly412Val) rs104886102
NM_033380.3(COL4A5):c.1243G>A (p.Gly415Arg) rs104886103
NM_033380.3(COL4A5):c.1246_1269del (p.Ile416_Gly423del) rs1569492996
NM_033380.3(COL4A5):c.1254del (p.Pro419fs) rs104886104
NM_033380.3(COL4A5):c.1259G>A (p.Gly420Glu) rs281874663
NM_033380.3(COL4A5):c.1259G>T (p.Gly420Val) rs281874663
NM_033380.3(COL4A5):c.1265del (p.Pro422fs) rs104886109
NM_033380.3(COL4A5):c.1268G>A (p.Gly423Glu) rs104886110
NM_033380.3(COL4A5):c.1276G>A (p.Gly426Arg) rs104886111
NM_033380.3(COL4A5):c.1280dup (p.Pro428fs) rs104886327
NM_033380.3(COL4A5):c.1286G>A (p.Gly429Glu) rs104886112
NM_033380.3(COL4A5):c.1288dup (p.Ala430fs) rs104886318
NM_033380.3(COL4A5):c.1294G>A (p.Gly432Arg) rs281874664
NM_033380.3(COL4A5):c.1339+6C>G rs1569493051
NM_033380.3(COL4A5):c.1340-2A>G rs104886319
NM_033380.3(COL4A5):c.1347_1355del (p.Ile450_Glu452del) rs1569493132
NM_033380.3(COL4A5):c.1348_1349AT[1] (p.Ile450fs) rs104886320
NM_033380.3(COL4A5):c.1371_1379del (p.455_457PPG[1]) rs104886321
NM_033380.3(COL4A5):c.1376del (p.Pro459fs) rs104886113
NM_033380.3(COL4A5):c.1397G>A (p.Gly466Glu) rs104886114
NM_033380.3(COL4A5):c.13G>T (p.Gly5Ter) rs104886049
NM_033380.3(COL4A5):c.1406G>A (p.Gly469Glu) rs104886115
NM_033380.3(COL4A5):c.1411_1414dup (p.Gly472fs) rs1569493161
NM_033380.3(COL4A5):c.1414G>A (p.Gly472Arg) rs104886116
NM_033380.3(COL4A5):c.142-1G>A rs104886323
NM_033380.3(COL4A5):c.1423+1G>A rs104886312
NM_033380.3(COL4A5):c.1423+57dup rs104886328
NM_033380.3(COL4A5):c.1423G>A (p.Gly475Ser) rs281874667
NM_033380.3(COL4A5):c.1424-1G>A rs104886329
NM_033380.3(COL4A5):c.1424-20T>A rs281874668
NM_033380.3(COL4A5):c.142G>A (p.Gly48Arg) rs281874669
NM_033380.3(COL4A5):c.1442dup (p.Cys481fs) rs1569493656
NM_033380.3(COL4A5):c.1472G>A (p.Gly491Glu) rs104886117
NM_033380.3(COL4A5):c.1481G>A (p.Gly494Asp) rs104886118
NM_033380.3(COL4A5):c.1489G>T (p.Gly497Cys) rs104886120
NM_033380.3(COL4A5):c.1498G>C (p.Gly500Arg) rs281874670
NM_033380.3(COL4A5):c.1516+1G>A rs104886331
NM_033380.3(COL4A5):c.1517-1G>T rs104886332
NM_033380.3(COL4A5):c.1526G>A (p.Gly509Asp) rs867721264
NM_033380.3(COL4A5):c.152G>T (p.Gly51Val) rs755038747
NM_033380.3(COL4A5):c.1542_1543del (p.Glu516fs) rs104886333
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.1567del (p.Thr523fs) rs104886123
NM_033380.3(COL4A5):c.1571G>A (p.Gly524Asp) rs104886119
NM_033380.3(COL4A5):c.1579G>A (p.Gly527Arg) rs1569493892
NM_033380.3(COL4A5):c.1581_1596del (p.Leu528fs)
NM_033380.3(COL4A5):c.1587+1G>A rs104886313
NM_033380.3(COL4A5):c.1587+1del rs104886124
NM_033380.3(COL4A5):c.1589G>A (p.Gly530Asp) rs281874671
NM_033380.3(COL4A5):c.1598G>A (p.Gly533Glu) rs281874672
NM_033380.3(COL4A5):c.1607G>A (p.Gly536Asp) rs104886125
NM_033380.3(COL4A5):c.161G>A (p.Gly54Asp) rs104886043
NM_033380.3(COL4A5):c.1633G>C (p.Gly545Arg) rs104886126
NM_033380.3(COL4A5):c.1634G>T (p.Gly545Val) rs104886127
NM_033380.3(COL4A5):c.1643G>A (p.Gly548Asp) rs281874673
NM_033380.3(COL4A5):c.1652_1653insTC (p.Thr552fs) rs1569494000
NM_033380.3(COL4A5):c.1653del (p.Thr552fs) rs104886128
NM_033380.3(COL4A5):c.1672G>C (p.Gly558Arg) rs104886129
NM_033380.3(COL4A5):c.1681G>A (p.Gly561Arg) rs104886136
NM_033380.3(COL4A5):c.1690G>T (p.Gly564Cys) rs281874674
NM_033380.3(COL4A5):c.1700G>C (p.Gly567Ala) rs104886137
NM_033380.3(COL4A5):c.1718G>A (p.Gly573Asp) rs104886138
NM_033380.3(COL4A5):c.1726G>A (p.Gly576Ser) rs281874675
NM_033380.3(COL4A5):c.1735G>A (p.Gly579Arg) rs104886139
NM_033380.3(COL4A5):c.1736G>A (p.Gly579Glu) rs104886130
NM_033380.3(COL4A5):c.1738C>T (p.Gln580Ter) rs281874676
NM_033380.3(COL4A5):c.1739_1948+98del
NM_033380.3(COL4A5):c.1744G>A (p.Gly582Arg) rs281874677
NM_033380.3(COL4A5):c.1779+1G>A rs104886337
NM_033380.3(COL4A5):c.1779+1G>T rs104886337
NM_033380.3(COL4A5):c.1779+3G>C rs281874679
NM_033380.3(COL4A5):c.1780-1G>A rs104886338
NM_033380.3(COL4A5):c.1780-1G>T rs104886338
NM_033380.3(COL4A5):c.1780-6T>G rs1569494262
NM_033380.3(COL4A5):c.1780G>A (p.Gly594Ser) rs104886131
NM_033380.3(COL4A5):c.1781G>A (p.Gly594Asp) rs1569494267
NM_033380.3(COL4A5):c.1783G>A (p.Gly595Arg) rs104886132
NM_033380.3(COL4A5):c.1799G>A (p.Gly600Asp) rs1569494281
NM_033380.3(COL4A5):c.1808G>T (p.Gly603Val) rs104886133
NM_033380.3(COL4A5):c.1825G>C (p.Gly609Arg) rs104886135
NM_033380.3(COL4A5):c.1826G>A (p.Gly609Asp) rs104886140
NM_033380.3(COL4A5):c.1826G>T (p.Gly609Val) rs104886140
NM_033380.3(COL4A5):c.1835G>A (p.Gly612Asp) rs281874680
NM_033380.3(COL4A5):c.1843G>C (p.Gly615Arg) rs1569494304
NM_033380.3(COL4A5):c.1844G>A (p.Gly615Glu) rs794727397
NM_033380.3(COL4A5):c.1846_1854del (p.Asn616_Gly618del) rs1569494302
NM_033380.3(COL4A5):c.1856C>T (p.Pro619Leu) rs281874681
NM_033380.3(COL4A5):c.1861G>T (p.Gly621Cys) rs104886141
NM_033380.3(COL4A5):c.1862G>T (p.Gly621Val) rs1569494322
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142
NM_033380.3(COL4A5):c.1877G>C (p.Gly626Ala) rs104886143
NM_033380.3(COL4A5):c.1883C>T (p.Pro628Leu) rs281874682
NM_033380.3(COL4A5):c.1886G>A (p.Gly629Asp) rs104886144
NM_033380.3(COL4A5):c.1894G>C (p.Gly632Arg) rs1569494351
NM_033380.3(COL4A5):c.1895G>A (p.Gly632Asp) rs104886145
NM_033380.3(COL4A5):c.1897G>A (p.Glu633Lys) rs104886146
NM_033380.3(COL4A5):c.1904G>A (p.Gly635Asp) rs281874683
NM_033380.3(COL4A5):c.1912G>A (p.Gly638Ser) rs104886147
NM_033380.3(COL4A5):c.1913G>A (p.Gly638Asp) rs104886134
NM_033380.3(COL4A5):c.1913G>C (p.Gly638Ala) rs104886134
NM_033380.3(COL4A5):c.1913G>T (p.Gly638Val) rs104886134
NM_033380.3(COL4A5):c.1922G>A (p.Gly641Glu) rs1569494378
NM_033380.3(COL4A5):c.1931G>A (p.Gly644Asp) rs1569494386
NM_033380.3(COL4A5):c.1948+1G>A rs104886339
NM_033380.3(COL4A5):c.1948+894C>G rs5973838
NM_033380.3(COL4A5):c.1948G>A (p.Gly650Ser) rs1569494393
NM_033380.3(COL4A5):c.1949-2A>G rs1569494852
NM_033380.3(COL4A5):c.1949-2A>T rs1569494852
NM_033380.3(COL4A5):c.1957G>A (p.Gly653Arg) rs104886150
NM_033380.3(COL4A5):c.1960del (p.Asp654fs) rs104886152
NM_033380.3(COL4A5):c.1992_2009del (p.Lys664_Gly669del) rs1569494882
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>C (p.Gly669Arg) rs281874684
NM_033380.3(COL4A5):c.2006G>C (p.Gly669Ala) rs104886151
NM_033380.3(COL4A5):c.2014G>C (p.Gly672Arg) rs281874685
NM_033380.3(COL4A5):c.2018del (p.Arg673fs) rs104886156
NM_033380.3(COL4A5):c.2023G>A (p.Gly675Ser) rs104886157
NM_033380.3(COL4A5):c.2041+1G>T rs104886340
NM_033380.3(COL4A5):c.2042-18A>G rs104886341
NM_033380.3(COL4A5):c.2042G>A (p.Gly681Asp) rs104886158
NM_033380.3(COL4A5):c.2050G>T (p.Gly684Ter) rs104886159
NM_033380.3(COL4A5):c.2051G>T (p.Gly684Val) rs104886160
NM_033380.3(COL4A5):c.2057del (p.Pro686fs) rs104886167
NM_033380.3(COL4A5):c.2060G>A (p.Gly687Glu) rs104886168
NM_033380.3(COL4A5):c.2062_2114dup (p.Ile706fs) rs104886342
NM_033380.3(COL4A5):c.2077G>A (p.Gly693Arg) rs1569495038
NM_033380.3(COL4A5):c.2095G>A (p.Gly699Arg) rs1569495049
NM_033380.3(COL4A5):c.2098G>T (p.Glu700Ter) rs104886169
NM_033380.3(COL4A5):c.2146+3A>C rs104886343
NM_033380.3(COL4A5):c.2146G>C (p.Gly716Arg) rs104886161
NM_033380.3(COL4A5):c.2147-2A>G rs104886344
NM_033380.3(COL4A5):c.2147-3C>G rs104886345
NM_033380.3(COL4A5):c.2155G>C (p.Gly719Arg) rs281874686
NM_033380.3(COL4A5):c.2156G>T (p.Gly719Val) rs868580411
NM_033380.3(COL4A5):c.2164G>C (p.Gly722Arg) rs281874687
NM_033380.3(COL4A5):c.2207_2227del (p.Glu736_Pro742del) rs104886346
NM_033380.3(COL4A5):c.2215C>T (p.Pro739Ser) rs104886164
NM_033380.3(COL4A5):c.2219G>A (p.Gly740Glu) rs104886165
NM_033380.3(COL4A5):c.2228G>A (p.Gly743Asp) rs104886166
NM_033380.3(COL4A5):c.2237G>A (p.Gly746Glu) rs867625069
NM_033380.3(COL4A5):c.2244+1G>T rs281874688
NM_033380.3(COL4A5):c.2244+2T>G rs104886347
NM_033380.3(COL4A5):c.2245-1G>A rs104886348
NM_033380.3(COL4A5):c.2245-40A>G rs1569495747
NM_033380.3(COL4A5):c.2264T>G (p.Leu755Ter) rs1569495758
NM_033380.3(COL4A5):c.2287G>A (p.Gly763Arg) rs104886171
NM_033380.3(COL4A5):c.2288G>T (p.Gly763Val) rs281874689
NM_033380.3(COL4A5):c.2297G>A (p.Gly766Asp) rs104886172
NM_033380.3(COL4A5):c.2297G>T (p.Gly766Val) rs104886172
NM_033380.3(COL4A5):c.2305G>A (p.Gly769Arg) rs281874690
NM_033380.3(COL4A5):c.2306G>T (p.Gly769Val) rs1437633065
NM_033380.3(COL4A5):c.231+1G>A rs104886349
NM_033380.3(COL4A5):c.2315G>A (p.Gly772Asp) rs104886173
NM_033380.3(COL4A5):c.2315G>C (p.Gly772Ala) rs104886173
NM_033380.3(COL4A5):c.232-1G>A rs104886350
NM_033380.3(COL4A5):c.232-1G>T rs104886350
NM_033380.3(COL4A5):c.2322dup (p.Gly775fs) rs104886351
NM_033380.3(COL4A5):c.2332G>A (p.Gly778Ser) rs104886174
NM_033380.3(COL4A5):c.2348del (p.Pro783fs) rs104886175
NM_033380.3(COL4A5):c.2360G>T (p.Gly787Val) rs104886176
NM_033380.3(COL4A5):c.2386G>A (p.Gly796Arg) rs104886177
NM_033380.3(COL4A5):c.2387G>T (p.Gly796Val) rs1569495819
NM_033380.3(COL4A5):c.2394A>G (p.Lys798=) rs281874691
NM_033380.3(COL4A5):c.2395+1G>A rs869025331
NM_033380.3(COL4A5):c.2395+2750A>G rs104886352
NM_033380.3(COL4A5):c.2395+2del rs104886178
NM_033380.3(COL4A5):c.2396-1G>A rs886041509
NM_033380.3(COL4A5):c.2404G>A (p.Gly802Arg) rs104886179
NM_033380.3(COL4A5):c.2423G>A (p.Gly808Glu) rs104886180
NM_033380.3(COL4A5):c.2423del (p.Gly808fs) rs1569496997
NM_033380.3(COL4A5):c.2431G>A (p.Gly811Arg) rs104886182
NM_033380.3(COL4A5):c.2432G>T (p.Gly811Val) rs104886183
NM_033380.3(COL4A5):c.2434_2441delinsAACCTGGACCAATGGGACCAATGGGAACAC (p.Pro812fs) rs397515495
NM_033380.3(COL4A5):c.2452_2454delinsT (p.Ile818fs) rs1569497013
NM_033380.3(COL4A5):c.2464G>C (p.Gly822Arg) rs104886184
NM_033380.3(COL4A5):c.2466_2474ACCACCAGG[1] (p.823_825PPG[1]) rs104886356
NM_033380.3(COL4A5):c.2473G>T (p.Gly825Ter) rs281874692
NM_033380.3(COL4A5):c.2477del (p.Pro826fs) rs281874694
NM_033380.3(COL4A5):c.2482G>A (p.Gly828Arg) rs1569497022
NM_033380.3(COL4A5):c.2483G>A (p.Gly828Glu) rs281874695
NM_033380.3(COL4A5):c.2500G>C (p.Gly834Arg) rs281874696
NM_033380.3(COL4A5):c.2509G>A (p.Gly837Ser) rs104886185
NM_033380.3(COL4A5):c.2510-1_2525del rs1569497679
NM_033380.3(COL4A5):c.2510-33A>G rs104886358
NM_033380.3(COL4A5):c.252del (p.Pro85fs) rs104886044
NM_033380.3(COL4A5):c.2546G>A (p.Gly849Glu) rs1569497695
NM_033380.3(COL4A5):c.2550_2573del (p.Leu853_Gly860del) rs104886359
NM_033380.3(COL4A5):c.2554G>A (p.Gly852Arg) rs104886186
NM_033380.3(COL4A5):c.2555G>A (p.Gly852Glu) rs104886187
NM_033380.3(COL4A5):c.2578G>C (p.Gly860Arg) rs281874697
NM_033380.3(COL4A5):c.2589_2660del (p.Ser864_Gly887del) rs1569497722
NM_033380.3(COL4A5):c.2589del (p.Ser864fs) rs1569497723
NM_033380.3(COL4A5):c.2590_2625del (p.Ser864_Gly875del) rs104886354
NM_033380.3(COL4A5):c.2595_2612del (p.Ile867_Gly872del) rs104886355
NM_033380.3(COL4A5):c.2597G>A (p.Gly866Glu) rs104886188
NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg) rs104886189
NM_033380.3(COL4A5):c.2614G>C (p.Gly872Arg) rs104886190
NM_033380.3(COL4A5):c.2623G>C (p.Gly875Arg) rs281874698
NM_033380.3(COL4A5):c.2624G>A (p.Gly875Glu) rs104886191
NM_033380.3(COL4A5):c.2625del (p.Pro876fs) rs104886198
NM_033380.3(COL4A5):c.2632G>T (p.Gly878Ter) rs1569497759
NM_033380.3(COL4A5):c.2633G>T (p.Gly878Val) rs104886199
NM_033380.3(COL4A5):c.2643del (p.Leu882fs) rs104886200
NM_033380.3(COL4A5):c.2659G>C (p.Gly887Arg) rs281874699
NM_033380.3(COL4A5):c.2660G>T (p.Gly887Val) rs104886201
NM_033380.3(COL4A5):c.2677G>A (p.Gly893Ser) rs1569497776
NM_033380.3(COL4A5):c.2677G>C (p.Gly893Arg) rs1569497776
NM_033380.3(COL4A5):c.2678-10T>G rs104886360
NM_033380.3(COL4A5):c.2678G>T (p.Gly893Val) rs397515496
NM_033380.3(COL4A5):c.2687del (p.Gly896fs) rs281874700
NM_033380.3(COL4A5):c.2696G>T (p.Gly899Val) rs281874702
NM_033380.3(COL4A5):c.2696_2705del (p.Gly899fs) rs281874701
NM_033380.3(COL4A5):c.2705G>A (p.Gly902Glu) rs104886361
NM_033380.3(COL4A5):c.2705G>T (p.Gly902Val) rs104886361
NM_033380.3(COL4A5):c.2714G>A (p.Gly905Asp) rs1569498110
NM_033380.3(COL4A5):c.2722G>A (p.Gly908Arg) rs281874703
NM_033380.3(COL4A5):c.2731G>A (p.Gly911Arg) rs281874704
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.2746A>G (p.Ser916Gly) rs104886193
NM_033380.3(COL4A5):c.2747_2758delinsT (p.Ser916fs) rs1569498133
NM_033380.3(COL4A5):c.276+5G>A rs104886365
NM_033380.3(COL4A5):c.276+5G>T rs104886365
NM_033380.3(COL4A5):c.2765_2766inv (p.Lys922Ile)
NM_033380.3(COL4A5):c.2767+2del rs104886366
NM_033380.3(COL4A5):c.2767G>C (p.Gly923Arg) rs1569498140
NM_033380.3(COL4A5):c.277-1G>T rs104886367
NM_033380.3(COL4A5):c.2782C>T (p.Gln928Ter) rs281874705
NM_033380.3(COL4A5):c.2788C>T (p.Gln930Ter) rs104886194
NM_033380.3(COL4A5):c.2802dup (p.Gly935fs) rs104886368
NM_033380.3(COL4A5):c.2804G>A (p.Gly935Asp) rs104886195
NM_033380.3(COL4A5):c.2815G>T (p.Glu939Ter) rs1569498249
NM_033380.3(COL4A5):c.2821G>T (p.Gly941Cys) rs104886196
NM_033380.3(COL4A5):c.2822G>A (p.Gly941Asp) rs1569498254
NM_033380.3(COL4A5):c.2822_2824GTA[1] (p.Ser942del) rs104886369
NM_033380.3(COL4A5):c.2831del (p.Gly944fs) rs1569498258
NM_033380.3(COL4A5):c.2840G>A (p.Gly947Asp) rs104886370
NM_033380.3(COL4A5):c.2846del (p.Pro949fs) rs104886197
NM_033380.3(COL4A5):c.286G>A (p.Gly96Arg) rs281874706
NM_033380.3(COL4A5):c.2903_2904insG (p.Pro969fs) rs1569498271
NM_033380.3(COL4A5):c.2917+1G>C rs104886371
NM_033380.3(COL4A5):c.2917+1G>T rs104886371
NM_033380.3(COL4A5):c.2918-1G>A rs104886372
NM_033380.3(COL4A5):c.2918-1G>C rs104886372
NM_033380.3(COL4A5):c.2918-1G>T rs104886372
NM_033380.3(COL4A5):c.2918G>A (p.Gly973Asp) rs1569498606
NM_033380.3(COL4A5):c.2928_2929del (p.Val977fs) rs104886373
NM_033380.3(COL4A5):c.293del (p.Pro98fs) rs104886045
NM_033380.3(COL4A5):c.2943del (p.Gly982fs) rs104886204
NM_033380.3(COL4A5):c.2947del (p.Tyr983fs) rs281874708
NM_033380.3(COL4A5):c.2965_2982del (p.Asp989_Gly994del) rs104886374
NM_033380.3(COL4A5):c.2965del (p.Asp989fs) rs104886206
NM_033380.3(COL4A5):c.2976_2982del (p.Gln992fs) rs1569498624
NM_033380.3(COL4A5):c.2T>A (p.Met1Lys) rs1569469409
NM_033380.3(COL4A5):c.2_3del (p.Met1fs) rs104886376
NM_033380.3(COL4A5):c.3016+1G>T rs104886377
NM_033380.3(COL4A5):c.3017-1G>A rs104886378
NM_033380.3(COL4A5):c.3017G>T (p.Gly1006Val) rs104886202
NM_033380.3(COL4A5):c.3044G>T (p.Gly1015Val) rs104886211
NM_033380.3(COL4A5):c.3046C>T (p.Gln1016Ter) rs104886207
NM_033380.3(COL4A5):c.3046del (p.Gln1016fs) rs281874710
NM_033380.3(COL4A5):c.3053G>A (p.Gly1018Asp) rs1569498896
NM_033380.3(COL4A5):c.3057del (p.Leu1019_Ile1020insTer) rs104886208
NM_033380.3(COL4A5):c.3071G>A (p.Gly1024Glu) rs1569498904
NM_033380.3(COL4A5):c.3080G>T (p.Gly1027Val) rs104886209
NM_033380.3(COL4A5):c.3088G>A (p.Gly1030Ser) rs104886210
NM_033380.3(COL4A5):c.3107-2A>G rs104886379
NM_033380.3(COL4A5):c.3107-4A>G rs397515497
NM_033380.3(COL4A5):c.3107G>T (p.Gly1036Val) rs104886212
NM_033380.3(COL4A5):c.3115G>A (p.Gly1039Ser) rs104886214
NM_033380.3(COL4A5):c.3134G>A (p.Gly1045Glu) rs104886215
NM_033380.3(COL4A5):c.3154C>T (p.Gln1052Ter) rs1569499001
NM_033380.3(COL4A5):c.3167del (p.Pro1056fs) rs281874711
NM_033380.3(COL4A5):c.3169G>T (p.Gly1057Ter) rs104886216
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.3188G>T (p.Gly1063Val) rs104886218
NM_033380.3(COL4A5):c.3196G>A (p.Gly1066Ser) rs104886219
NM_033380.3(COL4A5):c.3196G>C (p.Gly1066Arg) rs104886219
NM_033380.3(COL4A5):c.3197G>C (p.Gly1066Ala) rs104886221
NM_033380.3(COL4A5):c.3206G>A (p.Gly1069Asp) rs281874712
NM_033380.3(COL4A5):c.3206G>T (p.Gly1069Val) rs281874712
NM_033380.3(COL4A5):c.321+1_321+2dup rs1569488388
NM_033380.3(COL4A5):c.3212C>G (p.Ser1071Ter) rs104886222
NM_033380.3(COL4A5):c.322-1G>A rs104886375
NM_033380.3(COL4A5):c.3227del (p.Pro1076fs) rs1569499057
NM_033380.3(COL4A5):c.3246+1G>A rs1569499064
NM_033380.3(COL4A5):c.3247G>A (p.Gly1083Ser) rs104886223
NM_033380.3(COL4A5):c.3256G>C (p.Gly1086Arg) rs104886231
NM_033380.3(COL4A5):c.3257G>A (p.Gly1086Asp) rs104886232
NM_033380.3(COL4A5):c.3289A>T (p.Lys1097Ter) rs104886233
NM_033380.3(COL4A5):c.3311G>T (p.Gly1104Val) rs104886224
NM_033380.3(COL4A5):c.3319G>A (p.Gly1107Arg) rs104886225
NM_033380.3(COL4A5):c.331_332insCA (p.Gly111fs) rs1569488415
NM_033380.3(COL4A5):c.3331del (p.Thr1111fs) rs104886226
NM_033380.3(COL4A5):c.3334_3337dup (p.Gly1113fs) rs104886380
NM_033380.3(COL4A5):c.3347G>T (p.Gly1116Val) rs281874713
NM_033380.3(COL4A5):c.3373+1G>A rs281874714
NM_033380.3(COL4A5):c.3374-11C>A rs104886387
NM_033380.3(COL4A5):c.3410G>A (p.Gly1137Asp) rs1131691795
NM_033380.3(COL4A5):c.3413del (p.Pro1138fs) rs104886227
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.3450_3451insAC (p.Val1151fs) rs1569505385
NM_033380.3(COL4A5):c.3454+1G>T rs281874715
NM_033380.3(COL4A5):c.3455-9A>G rs104886388
NM_033380.3(COL4A5):c.3472G>A (p.Gly1158Arg) rs104886389
NM_033380.3(COL4A5):c.3472G>T (p.Gly1158Trp) rs104886389
NM_033380.3(COL4A5):c.3474del (p.Gln1159fs) rs104886234
NM_033380.3(COL4A5):c.3481G>A (p.Gly1161Arg) rs104886235
NM_033380.3(COL4A5):c.3499G>A (p.Gly1167Ser) rs104886236
NM_033380.3(COL4A5):c.3509del (p.Gly1170fs) rs104886238
NM_033380.3(COL4A5):c.351_359del (p.Pro118_Gly120del) rs104886390
NM_033380.3(COL4A5):c.3526G>A (p.Gly1176Arg) rs1569505525
NM_033380.3(COL4A5):c.3527del (p.Gly1176fs) rs104886239
NM_033380.3(COL4A5):c.3535G>A (p.Gly1179Arg) rs104886240
NM_033380.3(COL4A5):c.3538C>T (p.Gln1180Ter) rs104886241
NM_033380.3(COL4A5):c.3543_3549del (p.Lys1181fs) rs281874716
NM_033380.3(COL4A5):c.3544G>C (p.Gly1182Arg) rs104886242
NM_033380.3(COL4A5):c.3545G>T (p.Gly1182Val) rs1569505535
NM_033380.3(COL4A5):c.3554-1G>A rs104886381
NM_033380.3(COL4A5):c.3554-3C>G rs104886382
NM_033380.3(COL4A5):c.3554-9C>G rs104886383
NM_033380.3(COL4A5):c.3586G>A (p.Gly1196Arg) rs104886244
NM_033380.3(COL4A5):c.3587G>A (p.Gly1196Glu) rs281874717
NM_033380.3(COL4A5):c.359_363delinsATAC (p.Gly120fs) rs1569488424
NM_033380.3(COL4A5):c.3604+3A>T rs1569505614
NM_033380.3(COL4A5):c.3605-1G>A rs104886384
NM_033380.3(COL4A5):c.3605-2A>G rs104886385
NM_033380.3(COL4A5):c.3613G>A (p.Gly1205Ser) rs104886245
NM_033380.3(COL4A5):c.3613G>T (p.Gly1205Cys) rs104886245
NM_033380.3(COL4A5):c.3618_3622del (p.Asp1206fs) rs1569505747
NM_033380.3(COL4A5):c.3631G>C (p.Gly1211Arg) rs104886246
NM_033380.3(COL4A5):c.3632G>A (p.Gly1211Glu) rs104886247
NM_033380.3(COL4A5):c.3641G>A (p.Gly1214Glu) rs104886248
NM_033380.3(COL4A5):c.3647del (p.Pro1216fs) rs104886249
NM_033380.3(COL4A5):c.3650G>A (p.Gly1217Asp) rs1569505758
NM_033380.3(COL4A5):c.3657_3728del (p.Lys1222_Pro1245del) rs104886391
NM_033380.3(COL4A5):c.3659G>A (p.Gly1220Asp) rs104886251
NM_033380.3(COL4A5):c.3668G>A (p.Gly1223Asp) rs104886252
NM_033380.3(COL4A5):c.3668G>T (p.Gly1223Val) rs104886252
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.3685G>T (p.Gly1229Cys) rs1569505771
NM_033380.3(COL4A5):c.3686G>A (p.Gly1229Asp) rs104886253
NM_033380.3(COL4A5):c.368G>A (p.Gly123Glu) rs1569488429
NM_033380.3(COL4A5):c.368del (p.Gly123fs) rs104886046
NM_033380.3(COL4A5):c.3694G>A (p.Gly1232Ser) rs104886250
NM_033380.3(COL4A5):c.3700C>T (p.Gln1234Ter) rs281874719
NM_033380.3(COL4A5):c.3706_3722delinsT (p.Pro1236fs) rs281874720
NM_033380.3(COL4A5):c.3709_3710dup (p.Gly1238fs) rs104886392
NM_033380.3(COL4A5):c.3721G>C (p.Gly1241Arg) rs104886255
NM_033380.3(COL4A5):c.3721G>T (p.Gly1241Cys) rs104886255
NM_033380.3(COL4A5):c.3722G>T (p.Gly1241Val) rs281874721
NM_033380.3(COL4A5):c.3731G>A (p.Gly1244Asp) rs104886261
NM_033380.3(COL4A5):c.3746del (p.Gly1249fs) rs1569505800
NM_033380.3(COL4A5):c.3754G>A (p.Gly1252Ser) rs104886262
NM_033380.3(COL4A5):c.3754_3757dup (p.Asn1253fs) rs104886394
NM_033380.3(COL4A5):c.3763G>A (p.Gly1255Arg) rs104886263
NM_033380.3(COL4A5):c.3782G>A (p.Gly1261Glu) rs104886264
NM_033380.3(COL4A5):c.3790+1del rs104886256
NM_033380.3(COL4A5):c.3809-2A>T rs1569506917
NM_033380.3(COL4A5):c.3826G>A (p.Gly1276Ser) rs104886257
NM_033380.3(COL4A5):c.3833del (p.Pro1278fs) rs104886258
NM_033380.3(COL4A5):c.384+1G>A rs1569488437
NM_033380.3(COL4A5):c.384G>A (p.Lys128=) rs1569488434
NM_033380.3(COL4A5):c.385-1G>C rs104886395
NM_033380.3(COL4A5):c.385-719G>A rs104886396
NM_033380.3(COL4A5):c.385G>A (p.Gly129Arg) rs281874722
NM_033380.3(COL4A5):c.386G>A (p.Gly129Glu) rs281874723
NM_033380.3(COL4A5):c.386G>T (p.Gly129Val) rs281874723
NM_033380.3(COL4A5):c.3884_3887dup (p.Gly1297fs) rs606231370
NM_033380.3(COL4A5):c.388G>T (p.Glu130Ter) rs104886051
NM_033380.3(COL4A5):c.38_41dup (p.Leu14fs) rs104886408
NM_033380.3(COL4A5):c.3917del (p.Gly1306fs) rs1569506954
NM_033380.3(COL4A5):c.3938del (p.Leu1313fs) rs104886259
NM_033380.3(COL4A5):c.3942+1G>C rs483352870
NM_033380.3(COL4A5):c.3942G>C (p.Gln1314His) rs281874724
NM_033380.3(COL4A5):c.3943-1G>A rs281874725
NM_033380.3(COL4A5):c.3943-2A>G rs587776400
NM_033380.3(COL4A5):c.3976A>T (p.Lys1326Ter) rs104886260
NM_033380.3(COL4A5):c.4010del (p.Phe1337fs) rs104886265
NM_033380.3(COL4A5):c.4015G>A (p.Gly1339Ser) rs104886266
NM_033380.3(COL4A5):c.4016-2A>G rs104886397
NM_033380.3(COL4A5):c.4016-2A>T rs104886397
NM_033380.3(COL4A5):c.4024G>T (p.Gly1342Ter) rs1556453243
NM_033380.3(COL4A5):c.4042G>A (p.Gly1348Arg) rs1569507398
NM_033380.3(COL4A5):c.4078G>T (p.Gly1360Cys) rs1569507409
NM_033380.3(COL4A5):c.4087+1G>A rs587776401
NM_033380.3(COL4A5):c.4087G>A (p.Gly1363Ser) rs104886267
NM_033380.3(COL4A5):c.4089del (p.Pro1364fs) rs104886268
NM_033380.3(COL4A5):c.4118_4119AG[1] (p.Ser1374fs) rs104886403
NM_033380.3(COL4A5):c.412G>A (p.Gly138Ser) rs767619131
NM_033380.3(COL4A5):c.4154G>T (p.Gly1385Val) rs104886269
NM_033380.3(COL4A5):c.4165C>T (p.Gln1389Ter) rs281874727
NM_033380.3(COL4A5):c.4179_4180insTCCT (p.Gly1394fs) rs606231371
NM_033380.3(COL4A5):c.4189G>T (p.Gly1397Ter) rs281874728
NM_033380.3(COL4A5):c.4195C>T (p.Gln1399Ter) rs104886405
NM_033380.3(COL4A5):c.4195del (p.Gln1399fs) rs281874729
NM_033380.3(COL4A5):c.4202del (p.Pro1401fs) rs1569507572
NM_033380.3(COL4A5):c.4214dup (p.Gly1406fs) rs104886409
NM_033380.3(COL4A5):c.4216_4216+1del rs1569507577
NM_033380.3(COL4A5):c.4217-1G>A rs587776402
NM_033380.3(COL4A5):c.4232dup (p.Gly1412fs) rs281874731
NM_033380.3(COL4A5):c.4253del (p.Gly1418fs) rs281874732
NM_033380.3(COL4A5):c.4279G>T (p.Gly1427Trp) rs104886272
NM_033380.3(COL4A5):c.4289G>A (p.Gly1430Glu) rs281874733
NM_033380.3(COL4A5):c.4297G>T (p.Gly1433Cys) rs104886273
NM_033380.3(COL4A5):c.4298G>C (p.Gly1433Ala) rs104886274
NM_033380.3(COL4A5):c.4298G>T (p.Gly1433Val) rs104886274
NM_033380.3(COL4A5):c.430G>A (p.Gly144Ser) rs104886052
NM_033380.3(COL4A5):c.430G>C (p.Gly144Arg) rs104886052
NM_033380.3(COL4A5):c.4315+1G>A rs587776403
NM_033380.3(COL4A5):c.4316G>T (p.Gly1439Val) rs281874735
NM_033380.3(COL4A5):c.431G>A (p.Gly144Asp) rs281874737
NM_033380.3(COL4A5):c.4342G>C (p.Gly1448Arg) rs104886276
NM_033380.3(COL4A5):c.4343G>A (p.Gly1448Asp) rs104886277
NM_033380.3(COL4A5):c.4343G>C (p.Gly1448Ala) rs104886277
NM_033380.3(COL4A5):c.4344_4379dup (p.Pro1449_Gly1460dup) rs281874736
NM_033380.3(COL4A5):c.4347_4373del (p.Asp1450_Pro1458del) rs606231372
NM_033380.3(COL4A5):c.4360G>A (p.Gly1454Ser) rs104886279
NM_033380.3(COL4A5):c.4360G>C (p.Gly1454Arg) rs104886279
NM_033380.3(COL4A5):c.4362dup (p.Pro1455fs) rs606231373
NM_033380.3(COL4A5):c.4367del (p.Pro1456fs) rs104886275
NM_033380.3(COL4A5):c.4369G>A (p.Gly1457Ser) rs104886280
NM_033380.3(COL4A5):c.4370G>A (p.Gly1457Asp) rs1569508352
NM_033380.3(COL4A5):c.438+2T>C rs281874738
NM_033380.3(COL4A5):c.438+5G>A rs281874739
NM_033380.3(COL4A5):c.4417_4418CA[3] (p.Ser1474fs) rs1569508366
NM_033380.3(COL4A5):c.4445G>T (p.Cys1482Phe) rs1569508382
NM_033380.3(COL4A5):c.4454_4455del (p.Gly1485fs) rs104886420
NM_033380.3(COL4A5):c.4456del (p.Thr1486fs) rs104886281
NM_033380.3(COL4A5):c.4457C>G (p.Thr1486Arg) rs281874740
NM_033380.3(COL4A5):c.446del (p.Pro149fs) rs104886054
NM_033380.3(COL4A5):c.446dup (p.Gly150fs) rs104886054
NM_033380.3(COL4A5):c.4475G>A (p.Gly1492Asp) rs104886282
NM_033380.3(COL4A5):c.4475G>C (p.Gly1492Ala) rs104886282
NM_033380.3(COL4A5):c.4481C>T (p.Ser1494Phe) rs104886283
NM_033380.3(COL4A5):c.4507_4508AG[1] (p.Arg1503fs) rs104886421
NM_033380.3(COL4A5):c.4511C>A (p.Ala1504Asp) rs104886284
NM_033380.3(COL4A5):c.4519C>T (p.Gln1507Ter) rs281874741
NM_033380.3(COL4A5):c.4528+1G>C rs104886413
NM_033380.3(COL4A5):c.4528+1G>T rs104886413
NM_033380.3(COL4A5):c.4529-345A>G rs1569508899
NM_033380.3(COL4A5):c.4531del (p.Thr1511fs) rs281874742
NM_033380.3(COL4A5):c.4532_4545delinsTTTCAT (p.Thr1511fs) rs1569508938
NM_033380.3(COL4A5):c.4581C>A (p.Cys1527Ter) rs104886292
NM_033380.3(COL4A5):c.4583del (p.Asn1528fs) rs1569508951
NM_033380.3(COL4A5):c.458G>A (p.Gly153Asp) rs1569488946
NM_033380.3(COL4A5):c.4631G>C (p.Trp1544Ser) rs104886293
NM_033380.3(COL4A5):c.4632G>A (p.Trp1544Ter) rs104886294
NM_033380.3(COL4A5):c.466-12G>A rs104886414
NM_033380.3(COL4A5):c.466-2A>G rs104886416
NM_033380.3(COL4A5):c.4705C>T (p.Arg1569Ter) rs104886286
NM_033380.3(COL4A5):c.4706+1G>A rs1569508998
NM_033380.3(COL4A5):c.4706+4A>T rs1569508999
NM_033380.3(COL4A5):c.4706G>A (p.Arg1569Gln) rs281874743
NM_033380.3(COL4A5):c.4707-30_4707-9delinsCA rs281874744
NM_033380.3(COL4A5):c.4707-3_4735del rs1556462911
NM_033380.3(COL4A5):c.4708T>C (p.Cys1570Arg) rs281874745
NM_033380.3(COL4A5):c.4709G>C (p.Cys1570Ser) rs104886287
NM_033380.3(COL4A5):c.4713del (p.Val1572fs) rs1569509196
NM_033380.3(COL4A5):c.4717T>C (p.Cys1573Arg) rs104886288
NM_033380.3(COL4A5):c.4718G>C (p.Cys1573Ser) rs1569509201
NM_033380.3(COL4A5):c.4719T>A (p.Cys1573Ter) rs1569509203
NM_033380.3(COL4A5):c.4720G>A (p.Glu1574Lys) rs281874746
NM_033380.3(COL4A5):c.4743del (p.Val1582fs) rs1569509210
NM_033380.3(COL4A5):c.4754_4755insT (p.Gln1585fs) rs1569509214
NM_033380.3(COL4A5):c.4767dup (p.Pro1590fs) rs1569509224
NM_033380.3(COL4A5):c.4768_4774del (p.Pro1590fs) rs606231374
NM_033380.3(COL4A5):c.4769C>T (p.Pro1590Leu) rs281874747
NM_033380.3(COL4A5):c.476del (p.Gly159fs) rs281874748
NM_033380.3(COL4A5):c.4774T>C (p.Cys1592Arg) rs104886289
NM_033380.3(COL4A5):c.4775G>T (p.Cys1592Phe) rs104886290
NM_033380.3(COL4A5):c.4784G>T (p.Gly1595Val) rs104886291
NM_033380.3(COL4A5):c.4786T>G (p.Trp1596Gly) rs104886296
NM_033380.3(COL4A5):c.4796_4797TG[1] (p.Trp1600fs) rs281874749
NM_033380.3(COL4A5):c.4800G>A (p.Trp1600Ter) rs1569509236
NM_033380.3(COL4A5):c.4805G>A (p.Gly1602Asp) rs104886297
NM_033380.3(COL4A5):c.4805G>T (p.Gly1602Val) rs104886297
NM_033380.3(COL4A5):c.4808A>G (p.Tyr1603Cys) rs104886298
NM_033380.3(COL4A5):c.4809T>A (p.Tyr1603Ter) rs104886299
NM_033380.3(COL4A5):c.4811C>T (p.Ser1604Phe) rs1569509257
NM_033380.3(COL4A5):c.4821+121T>C rs104886423
NM_033380.3(COL4A5):c.4821+1G>A rs587776404
NM_033380.3(COL4A5):c.4821G>A (p.Met1607Ile) rs104886300
NM_033380.3(COL4A5):c.4822-151_4822-150insT rs397515494
NM_033380.3(COL4A5):c.4822-2A>C rs1569509301
NM_033380.3(COL4A5):c.4837dup (p.Ala1613fs) rs1569509307
NM_033380.3(COL4A5):c.4850del (p.Gly1617fs) rs104886301
NM_033380.3(COL4A5):c.4880T>C (p.Leu1627Ser) rs1569509315
NM_033380.3(COL4A5):c.4912T>G (p.Cys1638Gly) rs281874750
NM_033380.3(COL4A5):c.4913G>A (p.Cys1638Tyr) rs1569509333
NM_033380.3(COL4A5):c.4931G>A (p.Cys1644Tyr) rs104886302
NM_033380.3(COL4A5):c.4931G>C (p.Cys1644Ser) rs104886302
NM_033380.3(COL4A5):c.4949C>G (p.Ser1650Cys) rs1569509352
NM_033380.3(COL4A5):c.4960dup (p.Trp1654fs) rs281874751
NM_033380.3(COL4A5):c.4964T>G (p.Leu1655Arg) rs104886303
NM_033380.3(COL4A5):c.4986del (p.Asp1662fs) rs104886304
NM_033380.3(COL4A5):c.4994+2T>C rs1569509371
NM_033380.3(COL4A5):c.4994G>A (p.Ser1665Asn) rs104886305
NM_033380.3(COL4A5):c.4995-2A>G rs281874752
NM_033380.3(COL4A5):c.49_50del (p.Leu17fs) rs104886427
NM_033380.3(COL4A5):c.5012_5019del (p.Thr1671fs) rs104886426
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.5048G>A (p.Arg1683Gln) rs104886308
NM_033380.3(COL4A5):c.5048G>C (p.Arg1683Pro) rs104886308
NM_033380.3(COL4A5):c.5048G>T (p.Arg1683Leu) rs104886308
NM_033380.3(COL4A5):c.5050T>C (p.Cys1684Arg) rs104886310
NM_033380.3(COL4A5):c.5052T>G (p.Cys1684Trp) rs104886311
NM_033380.3(COL4A5):c.5052del (p.Gln1685fs) rs104886307
NM_033380.3(COL4A5):c.5054A>C (p.Gln1685Pro) rs1569509492
NM_033380.3(COL4A5):c.5059T>G (p.Cys1687Gly) rs1569509494
NM_033380.3(COL4A5):c.5060G>T (p.Cys1687Phe) rs281874754
NM_033380.3(COL4A5):c.5069G>A (p.Arg1690Lys) rs1360698598
NM_033380.3(COL4A5):c.520G>C (p.Gly174Arg) rs104886055
NM_033380.3(COL4A5):c.529G>C (p.Gly177Arg) rs104886056
NM_033380.3(COL4A5):c.529G>T (p.Gly177Cys) rs104886056
NM_033380.3(COL4A5):c.533del (p.Pro178fs) rs104886058
NM_033380.3(COL4A5):c.538G>A (p.Gly180Arg) rs281874755
NM_033380.3(COL4A5):c.544C>T (p.Gln182Ter) rs1569489341
NM_033380.3(COL4A5):c.544_546+4del rs1569489339
NM_033380.3(COL4A5):c.546+1G>A rs104886429
NM_033380.3(COL4A5):c.546+3_546+4insT rs104886430
NM_033380.3(COL4A5):c.547-1G>A rs104886431
NM_033380.3(COL4A5):c.547-2A>G rs281874756
NM_033380.3(COL4A5):c.547-3C>A rs1569489799
NM_033380.3(COL4A5):c.548G>T (p.Gly183Val) rs104886059
NM_033380.3(COL4A5):c.550dup (p.Leu184fs) rs104886433
NM_033380.3(COL4A5):c.560_561dup (p.Thr188fs) rs1569489828
NM_033380.3(COL4A5):c.573_574dup (p.Gly192fs) rs281874757
NM_033380.3(COL4A5):c.574G>A (p.Gly192Arg) rs104886060
NM_033380.3(COL4A5):c.584G>A (p.Gly195Asp) rs104886061
NM_033380.3(COL4A5):c.590del (p.Pro197fs) rs1569489856
NM_033380.3(COL4A5):c.593G>A (p.Gly198Glu) rs104886057
NM_033380.3(COL4A5):c.602G>T (p.Gly201Val) rs104886062
NM_033380.3(COL4A5):c.609+1G>A rs104886434
NM_033380.3(COL4A5):c.609+875G>T rs1569490148
NM_033380.3(COL4A5):c.610-2A>G rs281874758
NM_033380.3(COL4A5):c.610-2A>T rs281874758
NM_033380.3(COL4A5):c.611G>A (p.Gly204Asp) rs104886063
NM_033380.3(COL4A5):c.611G>T (p.Gly204Val) rs104886063
NM_033380.3(COL4A5):c.611_612del (p.Gly204fs) rs281874759
NM_033380.3(COL4A5):c.635del (p.Pro212fs) rs104886065
NM_033380.3(COL4A5):c.638G>A (p.Gly213Glu) rs104886066
NM_033380.3(COL4A5):c.646-12_646-11del rs104886436
NM_033380.3(COL4A5):c.646-3C>A rs104886437
NM_033380.3(COL4A5):c.646G>A (p.Gly216Arg) rs104886067
NM_033380.3(COL4A5):c.647G>A (p.Gly216Glu) rs104886074
NM_033380.3(COL4A5):c.647G>T (p.Gly216Val) rs104886074
NM_033380.3(COL4A5):c.655G>A (p.Gly219Ser) rs104886075
NM_033380.3(COL4A5):c.665T>G (p.Phe222Cys) rs281874761
NM_033380.3(COL4A5):c.679G>A (p.Gly227Ser) rs1556405916
NM_033380.3(COL4A5):c.680G>A (p.Gly227Asp) rs1569490446
NM_033380.3(COL4A5):c.682G>T (p.Glu228Ter) rs281874762
NM_033380.3(COL4A5):c.687+1G>A rs104886440
NM_033380.3(COL4A5):c.687+2T>C rs1569490465
NM_033380.3(COL4A5):c.688-3C>G rs104886441
NM_033380.3(COL4A5):c.688G>C (p.Gly230Arg) rs104886076
NM_033380.3(COL4A5):c.689G>A (p.Gly230Asp) rs281874763
NM_033380.3(COL4A5):c.698G>T (p.Gly233Val) rs1569490592
NM_033380.3(COL4A5):c.715G>A (p.Gly239Arg) rs1569490603
NM_033380.3(COL4A5):c.716G>A (p.Gly239Glu) rs104886068
NM_033380.3(COL4A5):c.759_760AG[1] (p.Glu254fs) rs104886443
NM_033380.3(COL4A5):c.780+2T>G rs104886444
NM_033380.3(COL4A5):c.780+5G>A rs1569490635
NM_033380.3(COL4A5):c.781-1_786delGGGACTT (p.?) rs104886445
NM_033380.3(COL4A5):c.788del (p.Pro263fs) rs281874764
NM_033380.3(COL4A5):c.790G>C (p.Gly264Arg) rs104886069
NM_033380.3(COL4A5):c.791G>A (p.Gly264Asp) rs104886070
NM_033380.3(COL4A5):c.796C>T (p.Arg266Ter) rs104886071
NM_033380.3(COL4A5):c.801dup (p.Pro268fs) rs1569490913
NM_033380.3(COL4A5):c.81+1G>C rs281874765
NM_033380.3(COL4A5):c.812del (p.Pro271fs) rs104886072
NM_033380.3(COL4A5):c.82G>T (p.Ala28Ser) rs869025333
NM_033380.3(COL4A5):c.834+1G>A rs104886446
NM_033380.3(COL4A5):c.834+5G>A rs104886442
NM_033380.3(COL4A5):c.834+5G>T rs104886442
NM_033380.3(COL4A5):c.859G>T (p.Glu287Ter) rs104886447
NM_033380.3(COL4A5):c.863del (p.Lys288fs) rs1569490970
NM_033380.3(COL4A5):c.866G>T (p.Gly289Val) rs104886450
NM_033380.3(COL4A5):c.866del (p.Gly289fs) rs281874766
NM_033380.3(COL4A5):c.871C>T (p.Gln291Ter) rs1569490975
NM_033380.3(COL4A5):c.873del (p.Gly292fs) rs281874767
NM_033380.3(COL4A5):c.874G>C (p.Gly292Arg) rs104886073
NM_033380.3(COL4A5):c.875G>T (p.Gly292Val) rs104886078
NM_033380.3(COL4A5):c.876A>T (p.Gly292=) rs1569490985
NM_033380.3(COL4A5):c.87C>A (p.Cys29Ter) rs104886048
NM_033380.3(COL4A5):c.884G>A (p.Gly295Asp) rs104886079
NM_033380.3(COL4A5):c.891+1G>A rs104886451
NM_033380.3(COL4A5):c.892-1G>C rs104886452
NM_033380.3(COL4A5):c.892-2A>G rs104886453
NM_033380.3(COL4A5):c.892G>A (p.Gly298Ser) rs104886080
NM_033380.3(COL4A5):c.893G>A (p.Gly298Asp) rs1569491068
NM_033380.3(COL4A5):c.90T>G (p.Tyr30Ter) rs104886047
NM_033380.3(COL4A5):c.913G>T (p.Glu305Ter) rs104886081
NM_033380.3(COL4A5):c.920G>A (p.Gly307Asp) rs104886082
NM_033380.3(COL4A5):c.928G>A (p.Gly310Arg) rs104886083
NM_033380.3(COL4A5):c.929G>A (p.Gly310Glu) rs1556407064
NM_033380.3(COL4A5):c.936+1G>A rs1569491107
NM_033380.3(COL4A5):c.937-1G>A rs104886448
NM_033380.3(COL4A5):c.937G>A (p.Gly313Ser) rs104886084
NM_033380.3(COL4A5):c.945dup (p.Gly316fs) rs104886449
NM_033380.3(COL4A5):c.947G>A (p.Gly316Asp) rs1569491387
NM_033380.3(COL4A5):c.955G>C (p.Gly319Arg) rs104886085
NM_033380.3(COL4A5):c.956G>A (p.Gly319Asp) rs104886086
NM_033380.3(COL4A5):c.960C>A (p.Tyr320Ter) rs281874769
NM_033380.3(COL4A5):c.965G>A (p.Gly322Asp) rs1569491399
NM_033380.3(COL4A5):c.965G>T (p.Gly322Val) rs1569491399
NM_033380.3(COL4A5):c.973G>A (p.Gly325Arg) rs104886088
NM_033380.3(COL4A5):c.973G>T (p.Gly325Ter) rs104886088
NM_033380.3(COL4A5):c.974G>A (p.Gly325Glu) rs104886091
NM_033380.3(COL4A5):c.991-1G>A rs1569491718
NM_033380.3(COL4A5):c.992G>T (p.Gly331Val) rs104886092
NM_033380.3(COL4A5):c.[3855_3863del;3875dup]
NP_203699.1:p.?
NP_203699.1:p.Ala28_Lys1082dup
NP_203699.1:p.Gly51fs
NP_203699.1:p.Ser1562fs
c1949-?_2395+?del
c2510-?_3246+?del
c3247-?_4198+?del
c82-?_5058+?del
ins10-15kb(intron46);del25kb
ins10-15kb(intron47);del~40kb3'toCOL4A5

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