NM_033380.3(COL4A5):c.3519T>G (p.Gly1173=)
|
rs61735627
|
0.03239
|
NM_033380.3(COL4A5):c.4216+228T>A
|
rs28650252
|
0.01683
|
NM_033380.3(COL4A5):c.141+257A>G
|
rs145783977
|
0.01319
|
NM_033380.3(COL4A5):c.1033-298G>A
|
rs143654988
|
0.01314
|
NM_033380.3(COL4A5):c.276+69T>C
|
rs149638471
|
0.01263
|
NM_033380.3(COL4A5):c.3373+137A>C
|
rs56253633
|
0.01063
|
NM_033380.3(COL4A5):c.3790+126C>G
|
rs185018794
|
0.00749
|
NM_033380.3(COL4A5):c.1165+198G>A
|
rs113710904
|
0.00740
|
NM_033380.3(COL4A5):c.3942+257C>A
|
rs148458420
|
0.00726
|
NM_033380.3(COL4A5):c.3107-97G>C
|
rs3761616
|
0.00723
|
NM_033380.3(COL4A5):c.1949-188T>C
|
rs112610488
|
0.00720
|
NM_033380.3(COL4A5):c.3790+111A>G
|
rs28717046
|
0.00717
|
NM_033380.3(COL4A5):c.385-97G>A
|
rs111978148
|
0.00716
|
NM_033380.3(COL4A5):c.4707-36C>A
|
rs28446657
|
0.00711
|
NM_033380.3(COL4A5):c.2395+3071T>A
|
rs751073124
|
0.00703
|
NM_033380.3(COL4A5):c.781-80T>C
|
rs145275942
|
0.00683
|
NM_033380.3(COL4A5):c.2510-196T>A
|
rs141684133
|
0.00605
|
NM_033380.3(COL4A5):c.3246+131C>G
|
rs774675454
|
0.00602
|
NM_033380.3(COL4A5):c.1423+199C>T
|
rs113378134
|
0.00597
|
NM_033380.3(COL4A5):c.232-17A>C
|
rs111438962
|
0.00594
|
NM_033380.3(COL4A5):c.610-263T>C
|
rs111678408
|
0.00593
|
NM_033380.3(COL4A5):c.780+262del
|
rs200433454
|
0.00525
|
NM_033380.3(COL4A5):c.3791-204G>A
|
rs139199691
|
0.00499
|
NM_033380.3(COL4A5):c.3808+205A>G
|
rs145950010
|
0.00454
|
NM_033380.3(COL4A5):c.3791-333A>G
|
rs191517623
|
0.00449
|
NM_033380.3(COL4A5):c.4528+2497C>T
|
rs189145855
|
0.00445
|
NM_033380.3(COL4A5):c.385-102A>G
|
rs190645082
|
0.00419
|
NM_033380.3(COL4A5):c.3247-329T>G
|
rs145522889
|
0.00417
|
NM_033380.3(COL4A5):c.3942+59G>C
|
rs73636580
|
0.00343
|
NM_033380.3(COL4A5):c.3553+201C>A
|
rs193083174
|
0.00341
|
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.891+50G>A
|
rs139844632
|
0.00133
|
NM_033380.3(COL4A5):c.3791-230C>T
|
rs187209704
|
0.00122
|
NM_033380.3(COL4A5):c.4822-47A>G
|
rs112292893
|
0.00119
|
NM_033380.3(COL4A5):c.2396-44T>G
|
rs190497402
|
0.00094
|
NM_033380.3(COL4A5):c.4217-30A>G
|
rs199782398
|
0.00091
|
NM_033380.3(COL4A5):c.3808+7C>T
|
rs371130625
|
0.00066
|
NM_033380.3(COL4A5):c.3799+18A>G
|
rs201371556
|
0.00065
|
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.2216C>A (p.Pro739His)
|
rs201123438
|
0.00037
|
NM_033380.3(COL4A5):c.4353A>T (p.Gly1451=)
|
rs146884759
|
0.00028
|
NM_033380.3(COL4A5):c.3023A>G (p.Lys1008Arg)
|
rs142929745
|
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.3296C>T (p.Ser1099Phe)
|
rs767087695
|
0.00021
|
NM_033380.3(COL4A5):c.4015+5T>C
|
rs190856675
|
0.00020
|
NM_033380.3(COL4A5):c.3426C>T (p.Pro1142=)
|
rs780896516
|
0.00019
|
NM_033380.3(COL4A5):c.1275C>T (p.Asp425=)
|
rs144674397
|
0.00017
|
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.3107-11A>T
|
rs190579028
|
0.00015
|
NM_033380.3(COL4A5):c.1684G>A (p.Glu562Lys)
|
rs149228661
|
0.00014
|
NM_033380.3(COL4A5):c.2529A>G (p.Gly843=)
|
rs765515477
|
0.00013
|
NM_033380.3(COL4A5):c.2571A>G (p.Gly857=)
|
rs41311553
|
0.00012
|
NM_033380.3(COL4A5):c.4072C>A (p.Leu1358Ile)
|
rs143020337
|
0.00011
|
NM_033380.3(COL4A5):c.1698T>C (p.Pro566=)
|
rs143442986
|
0.00010
|
NM_033380.3(COL4A5):c.568A>G (p.Ile190Val)
|
rs367890539
|
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.1876G>A (p.Gly626Ser)
|
rs747821323
|
0.00008
|
NM_033380.3(COL4A5):c.3957G>T (p.Arg1319=)
|
rs758920904
|
0.00008
|
NM_033380.3(COL4A5):c.4246C>T (p.Arg1416Cys)
|
rs104886270
|
0.00008
|
NM_033380.3(COL4A5):c.5016G>A (p.Leu1672=)
|
rs140088494
|
0.00008
|
NM_033380.3(COL4A5):c.89A>G (p.Tyr30Cys)
|
rs150305490
|
0.00008
|
NM_033380.3(COL4A5):c.309A>C (p.Thr103=)
|
rs373454111
|
0.00007
|
NM_033380.3(COL4A5):c.3403A>G (p.Ile1135Val)
|
rs747614562
|
0.00007
|
NM_033380.3(COL4A5):c.3960G>A (p.Pro1320=)
|
rs752288966
|
0.00007
|
NM_033380.3(COL4A5):c.4692G>A (p.Gln1564=)
|
rs1407827840
|
0.00007
|
NM_033380.3(COL4A5):c.646-6C>T
|
rs200151467
|
0.00007
|
NM_033380.3(COL4A5):c.3001T>C (p.Leu1001=)
|
rs148525914
|
0.00006
|
NM_033380.3(COL4A5):c.3923A>G (p.Gln1308Arg)
|
rs104886399
|
0.00006
|
NM_033380.3(COL4A5):c.4668A>G (p.Gln1556=)
|
rs767410335
|
0.00006
|
NM_033380.3(COL4A5):c.528A>G (p.Pro176=)
|
rs780845413
|
0.00006
|
NM_033380.3(COL4A5):c.1339+8A>G
|
rs185648554
|
0.00005
|
NM_033380.3(COL4A5):c.1975A>G (p.Ile659Val)
|
rs201414732
|
0.00005
|
NM_033380.3(COL4A5):c.2348C>T (p.Pro783Leu)
|
rs747288279
|
0.00005
|
NM_033380.3(COL4A5):c.3333C>G (p.Thr1111=)
|
rs754266664
|
0.00005
|
NM_033380.3(COL4A5):c.348A>G (p.Pro116=)
|
rs372839725
|
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.433C>T (p.Pro145Ser)
|
rs750582198
|
0.00005
|
NM_033380.3(COL4A5):c.4550G>A (p.Arg1517His)
|
rs104886285
|
0.00005
|
NM_033380.3(COL4A5):c.945T>G (p.Pro315=)
|
rs1208369397
|
0.00005
|
NM_033380.3(COL4A5):c.1043G>A (p.Arg348Lys)
|
rs377663039
|
0.00004
|
NM_033380.3(COL4A5):c.108A>G (p.Ser36=)
|
rs1164696602
|
0.00004
|
NM_033380.3(COL4A5):c.2004T>G (p.Pro668=)
|
rs376003159
|
0.00004
|
NM_033380.3(COL4A5):c.3247-20C>G
|
rs375420079
|
0.00004
|
NM_033380.3(COL4A5):c.3993C>T (p.Leu1331=)
|
rs751858178
|
0.00004
|
NM_033380.3(COL4A5):c.4431G>A (p.Thr1477=)
|
rs776106671
|
0.00004
|
NM_033380.3(COL4A5):c.443C>T (p.Pro148Leu)
|
rs773404950
|
0.00004
|
NM_033380.3(COL4A5):c.4533G>A (p.Thr1511=)
|
rs370327284
|
0.00004
|
NM_033380.3(COL4A5):c.796C>G (p.Arg266Gly)
|
rs104886071
|
0.00004
|
NM_033380.3(COL4A5):c.1827T>A (p.Gly609=)
|
rs756142410
|
0.00003
|
NM_033380.3(COL4A5):c.2371T>G (p.Leu791Val)
|
rs973951246
|
0.00003
|
NM_033380.3(COL4A5):c.2580T>G (p.Gly860=)
|
rs1036627080
|
0.00003
|
NM_033380.3(COL4A5):c.2604C>T (p.Pro868=)
|
rs781337825
|
0.00003
|
NM_033380.3(COL4A5):c.2882G>T (p.Gly961Val)
|
rs768478427
|
0.00003
|
NM_033380.3(COL4A5):c.2987G>A (p.Ser996Asn)
|
rs750340696
|
0.00003
|
NM_033380.3(COL4A5):c.3114G>A (p.Gln1038=)
|
rs2067151262
|
0.00003
|
NM_033380.3(COL4A5):c.3570A>G (p.Gly1190=)
|
rs1190547342
|
0.00003
|
NM_033380.3(COL4A5):c.3605-18T>A
|
rs1360798420
|
0.00003
|
NM_033380.3(COL4A5):c.3684C>T (p.His1228=)
|
rs369744863
|
0.00003
|
NM_033380.3(COL4A5):c.3810T>A (p.Gly1270=)
|
rs751952523
|
0.00003
|
NM_033380.3(COL4A5):c.4068G>A (p.Pro1356=)
|
rs368359594
|
0.00003
|
NM_033380.3(COL4A5):c.4175T>C (p.Leu1392Pro)
|
rs754420396
|
0.00003
|
NM_033380.3(COL4A5):c.4659G>A (p.Met1553Ile)
|
rs768534430
|
0.00003
|
NM_033380.3(COL4A5):c.4822-4A>G
|
rs1305463603
|
0.00003
|
NM_033380.3(COL4A5):c.63G>A (p.Gly21=)
|
rs759402395
|
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.1118G>A (p.Arg373Gln)
|
rs764068055
|
0.00002
|
NM_033380.3(COL4A5):c.1165+9G>T
|
rs755761675
|
0.00002
|
NM_033380.3(COL4A5):c.124G>A (p.Gly42Ser)
|
rs371351149
|
0.00002
|
NM_033380.3(COL4A5):c.1453A>G (p.Ile485Val)
|
rs150042298
|
0.00002
|
NM_033380.3(COL4A5):c.1470A>C (p.Ser490=)
|
rs374629706
|
0.00002
|
NM_033380.3(COL4A5):c.1503C>A (p.Leu501=)
|
rs750587716
|
0.00002
|
NM_033380.3(COL4A5):c.1546G>C (p.Glu516Gln)
|
rs770915647
|
0.00002
|
NM_033380.3(COL4A5):c.1767G>A (p.Pro589=)
|
rs920486747
|
0.00002
|
NM_033380.3(COL4A5):c.1858A>G (p.Met620Val)
|
rs200908871
|
0.00002
|
NM_033380.3(COL4A5):c.2166A>G (p.Gly722=)
|
rs751193881
|
0.00002
|
NM_033380.3(COL4A5):c.2172A>G (p.Pro724=)
|
rs756927559
|
0.00002
|
NM_033380.3(COL4A5):c.2229C>T (p.Gly743=)
|
rs892169294
|
0.00002
|
NM_033380.3(COL4A5):c.2295A>G (p.Pro765=)
|
rs141247183
|
0.00002
|
NM_033380.3(COL4A5):c.2338C>G (p.Pro780Ala)
|
rs772227013
|
0.00002
|
NM_033380.3(COL4A5):c.2395+4T>C
|
rs774352105
|
0.00002
|
NM_033380.3(COL4A5):c.2403T>C (p.Val801=)
|
rs747235110
|
0.00002
|
NM_033380.3(COL4A5):c.2561A>G (p.Asp854Gly)
|
rs763428268
|
0.00002
|
NM_033380.3(COL4A5):c.2679T>C (p.Gly893=)
|
rs750574551
|
0.00002
|
NM_033380.3(COL4A5):c.2681C>T (p.Thr894Ile)
|
rs756161296
|
0.00002
|
NM_033380.3(COL4A5):c.2717C>G (p.Pro906Arg)
|
rs758168827
|
0.00002
|
NM_033380.3(COL4A5):c.2767+7A>G
|
rs775161237
|
0.00002
|
NM_033380.3(COL4A5):c.2820A>G (p.Lys940=)
|
rs1380901574
|
0.00002
|
NM_033380.3(COL4A5):c.3019C>T (p.Pro1007Ser)
|
rs769889339
|
0.00002
|
NM_033380.3(COL4A5):c.3220G>A (p.Gly1074Ser)
|
rs370972364
|
0.00002
|
NM_033380.3(COL4A5):c.3318C>T (p.Pro1106=)
|
rs766814684
|
0.00002
|
NM_033380.3(COL4A5):c.3384C>A (p.Gly1128=)
|
rs774271982
|
0.00002
|
NM_033380.3(COL4A5):c.3493G>A (p.Glu1165Lys)
|
rs771538814
|
0.00002
|
NM_033380.3(COL4A5):c.3554-10A>G
|
rs750630727
|
0.00002
|
NM_033380.3(COL4A5):c.3790+8C>T
|
rs769160854
|
0.00002
|
NM_033380.3(COL4A5):c.3790+9G>A
|
rs374795300
|
0.00002
|
NM_033380.3(COL4A5):c.411C>T (p.Pro137=)
|
rs375056297
|
0.00002
|
NM_033380.3(COL4A5):c.4213C>G (p.Pro1405Ala)
|
rs758634712
|
0.00002
|
NM_033380.3(COL4A5):c.4401A>T (p.Gly1467=)
|
rs1169821288
|
0.00002
|
NM_033380.3(COL4A5):c.4635C>G (p.Leu1545=)
|
rs777888174
|
0.00002
|
NM_033380.3(COL4A5):c.4761C>T (p.Ile1587=)
|
rs747959168
|
0.00002
|
NM_033380.3(COL4A5):c.479G>A (p.Ser160Asn)
|
rs947383891
|
0.00002
|
NM_033380.3(COL4A5):c.5013G>A (p.Thr1671=)
|
rs962102528
|
0.00002
|
NM_033380.3(COL4A5):c.57T>C (p.Leu19=)
|
rs766114864
|
0.00002
|
NM_033380.3(COL4A5):c.600A>C (p.Pro200=)
|
rs1020401800
|
0.00002
|
NM_033380.3(COL4A5):c.66G>A (p.Gln22=)
|
rs1226348837
|
0.00002
|
NM_033380.3(COL4A5):c.750A>G (p.Pro250=)
|
rs1163287222
|
0.00002
|
NM_033380.3(COL4A5):c.834+11A>G
|
rs770585142
|
0.00002
|
NM_033380.3(COL4A5):c.918T>C (p.Asn306=)
|
rs1214573896
|
0.00002
|
NM_033380.3(COL4A5):c.990G>T (p.Lys330Asn)
|
rs1351189637
|
0.00002
|
NM_033380.3(COL4A5):c.1029A>T (p.Gly343=)
|
rs1241128085
|
0.00001
|
NM_033380.3(COL4A5):c.1032+7T>A
|
rs1482887267
|
0.00001
|
NM_033380.3(COL4A5):c.1032+9T>G
|
rs1182189417
|
0.00001
|
NM_033380.3(COL4A5):c.1033-9G>A
|
rs1210782383
|
0.00001
|
NM_033380.3(COL4A5):c.111G>A (p.Lys37=)
|
rs765197123
|
0.00001
|
NM_033380.3(COL4A5):c.1128T>C (p.Pro376=)
|
rs756752588
|
0.00001
|
NM_033380.3(COL4A5):c.1236A>C (p.Gly412=)
|
rs1219779746
|
0.00001
|
NM_033380.3(COL4A5):c.1281G>A (p.Gln427=)
|
rs2066427313
|
0.00001
|
NM_033380.3(COL4A5):c.1287G>T (p.Gly429=)
|
rs755775544
|
0.00001
|
NM_033380.3(COL4A5):c.1329C>T (p.His443=)
|
rs1316287075
|
0.00001
|
NM_033380.3(COL4A5):c.1330A>G (p.Ile444Val)
|
rs748660472
|
0.00001
|
NM_033380.3(COL4A5):c.1354G>A (p.Glu452Lys)
|
rs758804916
|
0.00001
|
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NM_033380.3(COL4A5):c.1740G>A (p.Gln580=)
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NM_033380.3(COL4A5):c.1864C>T (p.Pro622Ser)
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NM_033380.3(COL4A5):c.1980C>G (p.Thr660=)
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NM_033380.3(COL4A5):c.2042-5C>T
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NM_033380.3(COL4A5):c.220C>T (p.Arg74Trp)
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NM_033380.3(COL4A5):c.2226C>T (p.Pro742=)
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NM_033380.3(COL4A5):c.2329C>T (p.Arg777Cys)
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NM_033380.3(COL4A5):c.2330G>A (p.Arg777His)
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NM_033380.3(COL4A5):c.2362C>T (p.Arg788Cys)
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NM_033380.3(COL4A5):c.2395+8G>A
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NM_033380.3(COL4A5):c.2486T>A (p.Ile829Asn)
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NM_033380.3(COL4A5):c.255A>G (p.Pro85=)
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NM_033380.3(COL4A5):c.2657C>G (p.Ala886Gly)
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NM_033380.3(COL4A5):c.2853T>C (p.Pro951=)
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NM_033380.3(COL4A5):c.2865G>A (p.Met955Ile)
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NM_033380.3(COL4A5):c.2992C>A (p.Gln998Lys)
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NM_033380.3(COL4A5):c.3012A>G (p.Pro1004=)
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NM_033380.3(COL4A5):c.3095T>C (p.Met1032Thr)
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NM_033380.3(COL4A5):c.3141T>C (p.Ser1047=)
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NM_033380.3(COL4A5):c.3155A>C (p.Gln1052Pro)
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NM_033380.3(COL4A5):c.3189C>T (p.Gly1063=)
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NM_033380.3(COL4A5):c.321+9C>T
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NM_033380.3(COL4A5):c.3374-5T>C
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NM_033380.3(COL4A5):c.3503A>T (p.Lys1168Ile)
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NM_033380.3(COL4A5):c.3507C>T (p.Pro1169=)
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NM_033380.3(COL4A5):c.3604+7C>T
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NM_033380.3(COL4A5):c.3605-4A>G
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NM_033380.3(COL4A5):c.3609A>G (p.Gln1203=)
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NM_033380.3(COL4A5):c.3725C>T (p.Ser1242Phe)
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NM_033380.3(COL4A5):c.3838C>T (p.Leu1280Phe)
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NM_033380.3(COL4A5):c.384+10A>G
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NM_033380.3(COL4A5):c.3906T>C (p.Pro1302=)
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NM_033380.3(COL4A5):c.3931C>T (p.Pro1311Ser)
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NM_033380.3(COL4A5):c.405C>T (p.Gly135=)
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NM_033380.3(COL4A5):c.4071A>G (p.Gly1357=)
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NM_033380.3(COL4A5):c.4216+17T>C
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NM_033380.3(COL4A5):c.4216+7A>G
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NM_033380.3(COL4A5):c.4322G>A (p.Arg1441His)
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NM_033380.3(COL4A5):c.4337C>A (p.Pro1446His)
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NM_033380.3(COL4A5):c.4344T>C (p.Gly1448=)
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0.00001
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NM_033380.3(COL4A5):c.435T>C (p.Pro145=)
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0.00001
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NM_033380.3(COL4A5):c.4388C>G (p.Ser1463Cys)
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0.00001
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NM_033380.3(COL4A5):c.4430C>T (p.Thr1477Met)
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0.00001
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NM_033380.3(COL4A5):c.444C>T (p.Pro148=)
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0.00001
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NM_033380.3(COL4A5):c.4458A>G (p.Thr1486=)
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0.00001
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NM_033380.3(COL4A5):c.4515C>T (p.His1505=)
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0.00001
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NM_033380.3(COL4A5):c.4525T>C (p.Leu1509=)
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0.00001
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NM_033380.3(COL4A5):c.4532C>T (p.Thr1511Met)
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0.00001
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NM_033380.3(COL4A5):c.4586T>C (p.Ile1529Thr)
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0.00001
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NM_033380.3(COL4A5):c.4602C>T (p.Asn1534=)
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0.00001
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NM_033380.3(COL4A5):c.4641C>A (p.Thr1547=)
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NM_033380.3(COL4A5):c.4737G>A (p.Val1579=)
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0.00001
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NM_033380.3(COL4A5):c.4740C>T (p.Ile1580=)
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0.00001
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NM_033380.3(COL4A5):c.4758G>A (p.Thr1586=)
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0.00001
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NM_033380.3(COL4A5):c.48C>G (p.Ala16=)
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0.00001
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NM_033380.3(COL4A5):c.4908C>T (p.Ile1636=)
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NM_033380.3(COL4A5):c.546+9C>A
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NM_033380.3(COL4A5):c.549C>A (p.Gly183=)
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NM_033380.3(COL4A5):c.555T>C (p.Pro185=)
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NM_033380.3(COL4A5):c.609+8C>T
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NM_033380.3(COL4A5):c.646-10C>T
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NM_033380.3(COL4A5):c.771A>G (p.Lys257=)
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NM_033380.3(COL4A5):c.82-4A>G
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NM_033380.3(COL4A5):c.82-7C>T
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NM_033380.3(COL4A5):c.891+9T>C
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NM_033380.3(COL4A5):c.942G>A (p.Leu314=)
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0.00001
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NM_033380.3(COL4A5):c.980A>G (p.Asp327Gly)
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0.00001
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NM_033380.3(COL4A5):c.981T>C (p.Asp327=)
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0.00001
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NM_033380.3(COL4A5):c.9G>A (p.Leu3=)
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0.00001
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NM_033380.3(COL4A5):c.*51A>T
|
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NM_033380.3(COL4A5):c.-25_-8dup
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NM_033380.3(COL4A5):c.1005C>T (p.Asp335=)
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NM_033380.3(COL4A5):c.1008T>G (p.Thr336=)
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NM_033380.3(COL4A5):c.1026T>C (p.Pro342=)
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NM_033380.3(COL4A5):c.102A>G (p.Pro34=)
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NM_033380.3(COL4A5):c.1032+18A>T
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NM_033380.3(COL4A5):c.1032+18del
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NM_033380.3(COL4A5):c.1032+19G>A
|
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NM_033380.3(COL4A5):c.1033-14C>T
|
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NM_033380.3(COL4A5):c.1033-15T>C
|
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NM_033380.3(COL4A5):c.1033-15del
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NM_033380.3(COL4A5):c.1040C>T (p.Pro347Leu)
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NM_033380.3(COL4A5):c.1046C>T (p.Pro349Leu)
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NM_033380.3(COL4A5):c.1047T>C (p.Pro349=)
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NM_033380.3(COL4A5):c.1053T>A (p.Thr351=)
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NM_033380.3(COL4A5):c.105A>T (p.Gly35=)
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NM_033380.3(COL4A5):c.1086G>A (p.Gly362=)
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NM_033380.3(COL4A5):c.1092T>C (p.Pro364=)
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NM_033380.3(COL4A5):c.1095G>T (p.Gly365=)
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NM_033380.3(COL4A5):c.1117C>A (p.Arg373=)
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NM_033380.3(COL4A5):c.1155T>G (p.Pro385=)
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NM_033380.3(COL4A5):c.1165+15A>G
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NM_033380.3(COL4A5):c.1166-16C>T
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NM_033380.3(COL4A5):c.1221G>A (p.Gln407=)
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NM_033380.3(COL4A5):c.1230T>C (p.Asp410=)
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NM_033380.3(COL4A5):c.1254T>C (p.Ile418=)
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|
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NM_033380.3(COL4A5):c.1257T>G (p.Pro419=)
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NM_033380.3(COL4A5):c.1278A>T (p.Gly426=)
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NM_033380.3(COL4A5):c.1288G>A (p.Ala430Thr)
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NM_033380.3(COL4A5):c.1293T>C (p.Pro431=)
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NM_033380.3(COL4A5):c.1314C>T (p.Gly438=)
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NM_033380.3(COL4A5):c.1323C>A (p.Gly441=)
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NM_033380.3(COL4A5):c.1326T>A (p.Pro442=)
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NM_033380.3(COL4A5):c.132A>C (p.Lys44Asn)
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NM_033380.3(COL4A5):c.132A>G (p.Lys44=)
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NM_033380.3(COL4A5):c.1339+15T>G
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NM_033380.3(COL4A5):c.1339+19C>T
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NM_033380.3(COL4A5):c.1340-11A>G
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NM_033380.3(COL4A5):c.1340-5C>T
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NM_033380.3(COL4A5):c.1365T>A (p.Pro455=)
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|
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NM_033380.3(COL4A5):c.1371C>G (p.Gly457=)
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NM_033380.3(COL4A5):c.1371C>T (p.Gly457=)
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NM_033380.3(COL4A5):c.1374C>T (p.Pro458=)
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NM_033380.3(COL4A5):c.1380A>T (p.Gly460=)
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NM_033380.3(COL4A5):c.138A>G (p.Glu46=)
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NM_033380.3(COL4A5):c.141+7T>A
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NM_033380.3(COL4A5):c.1419G>T (p.Val473=)
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|
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NM_033380.3(COL4A5):c.142-5T>C
|
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NM_033380.3(COL4A5):c.1423+13A>G
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NM_033380.3(COL4A5):c.1423+16A>T
|
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NM_033380.3(COL4A5):c.1424-10A>T
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NM_033380.3(COL4A5):c.1427A>G (p.Asp476Gly)
|
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NM_033380.3(COL4A5):c.1449C>T (p.Asn483=)
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|
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NM_033380.3(COL4A5):c.1470A>G (p.Ser490=)
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NM_033380.3(COL4A5):c.1473G>A (p.Gly491=)
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NM_033380.3(COL4A5):c.1479A>G (p.Pro493=)
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NM_033380.3(COL4A5):c.148A>C (p.Arg50=)
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NM_033380.3(COL4A5):c.1503C>G (p.Leu501=)
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NM_033380.3(COL4A5):c.1509T>A (p.Gly503=)
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NM_033380.3(COL4A5):c.1509T>C (p.Gly503=)
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NM_033380.3(COL4A5):c.1511C>T (p.Pro504Leu)
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NM_033380.3(COL4A5):c.1516+18G>C
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NM_033380.3(COL4A5):c.1516+18G>T
|
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NM_033380.3(COL4A5):c.1516+8A>T
|
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NM_033380.3(COL4A5):c.1516+9T>G
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NM_033380.3(COL4A5):c.1517-10T>C
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NM_033380.3(COL4A5):c.1517-11G>T
|
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NM_033380.3(COL4A5):c.1517-17G>A
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NM_033380.3(COL4A5):c.1517-18TG[6]
|
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NM_033380.3(COL4A5):c.1517-18TG[8]
|
rs754130339
|
|
NM_033380.3(COL4A5):c.1517-18TG[9]
|
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NM_033380.3(COL4A5):c.1517-25_1517-4del
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NM_033380.3(COL4A5):c.1517-5G>A
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NM_033380.3(COL4A5):c.1517-5G>T
|
rs1603289840
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NM_033380.3(COL4A5):c.1530C>T (p.Phe510=)
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NM_033380.3(COL4A5):c.1548A>G (p.Glu516=)
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NM_033380.3(COL4A5):c.1569T>C (p.Thr523=)
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NM_033380.3(COL4A5):c.156T>C (p.Phe52=)
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NM_033380.3(COL4A5):c.1587+10G>C
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NM_033380.3(COL4A5):c.1587+12G>A
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NM_033380.3(COL4A5):c.1587+16A>G
|
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NM_033380.3(COL4A5):c.1587+7T>G
|
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NM_033380.3(COL4A5):c.1587+8T>C
|
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NM_033380.3(COL4A5):c.1588-15C>T
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NM_033380.3(COL4A5):c.1588-17T>C
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NM_033380.3(COL4A5):c.1588-19T>A
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NM_033380.3(COL4A5):c.1588-8C>G
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NM_033380.3(COL4A5):c.159A>G (p.Pro53=)
|
rs1270497316
|
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NM_033380.3(COL4A5):c.1617C>A (p.Gly539=)
|
rs971966005
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NM_033380.3(COL4A5):c.3189C>G (p.Gly1063=)
|
rs768698527
|
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NM_033380.3(COL4A5):c.3190G>A (p.Asp1064Asn)
|
|
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NM_033380.3(COL4A5):c.321+11T>C
|
|
|
NM_033380.3(COL4A5):c.321+15A>G
|
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NM_033380.3(COL4A5):c.321+16del
|
|
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NM_033380.3(COL4A5):c.321+7A>G
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rs2147746332
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NM_033380.3(COL4A5):c.3210T>A (p.Ile1070=)
|
rs2147873390
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NM_033380.3(COL4A5):c.322-11G>A
|
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NM_033380.3(COL4A5):c.322-4A>C
|
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NM_033380.3(COL4A5):c.3237T>G (p.Pro1079=)
|
rs2147873486
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NM_033380.3(COL4A5):c.3243A>G (p.Pro1081=)
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|
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NM_033380.3(COL4A5):c.3246+10G>A
|
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NM_033380.3(COL4A5):c.3246+8T>C
|
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NM_033380.3(COL4A5):c.3246+9T>C
|
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NM_033380.3(COL4A5):c.3247-10G>T
|
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NM_033380.3(COL4A5):c.3247-11C>T
|
|
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NM_033380.3(COL4A5):c.3247-18T>C
|
|
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NM_033380.3(COL4A5):c.3252G>A (p.Glu1084=)
|
rs2147934994
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NM_033380.3(COL4A5):c.3255T>C (p.Pro1085=)
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|
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NM_033380.3(COL4A5):c.3279C>T (p.Asn1093=)
|
|
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NM_033380.3(COL4A5):c.3280C>A (p.Pro1094Thr)
|
rs773912490
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NM_033380.3(COL4A5):c.3285T>C (p.Gly1095=)
|
rs2147935120
|
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NM_033380.3(COL4A5):c.3290A>C (p.Lys1097Thr)
|
rs1445341779
|
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NM_033380.3(COL4A5):c.3306T>C (p.Asp1102=)
|
|
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NM_033380.3(COL4A5):c.3315G>A (p.Leu1105=)
|
rs1415696204
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NM_033380.3(COL4A5):c.3327A>C (p.Pro1109=)
|
|
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NM_033380.3(COL4A5):c.3336T>C (p.Pro1112=)
|
|
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NM_033380.3(COL4A5):c.3373+10C>T
|
|
|
NM_033380.3(COL4A5):c.337G>A (p.Asp113Asn)
|
|
|
NM_033380.3(COL4A5):c.3381A>G (p.Pro1127=)
|
|
|
NM_033380.3(COL4A5):c.3384C>T (p.Gly1128=)
|
|
|
NM_033380.3(COL4A5):c.3390T>C (p.Pro1130=)
|
rs2147952874
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NM_033380.3(COL4A5):c.3411C>A (p.Gly1137=)
|
rs2147952946
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NM_033380.3(COL4A5):c.3423C>T (p.Asn1141=)
|
rs771590073
|
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NM_033380.3(COL4A5):c.3426C>G (p.Pro1142=)
|
|
|
NM_033380.3(COL4A5):c.342G>A (p.Gly114=)
|
|
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NM_033380.3(COL4A5):c.3432T>A (p.Leu1144=)
|
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NM_033380.3(COL4A5):c.3435A>G (p.Pro1145=)
|
rs2068061138
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NM_033380.3(COL4A5):c.3447T>C (p.Gly1149=)
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NM_033380.3(COL4A5):c.3454+14A>G
|
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NM_033380.3(COL4A5):c.3454+15T>G
|
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NM_033380.3(COL4A5):c.3454+19A>T
|
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NM_033380.3(COL4A5):c.3454+7A>C
|
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NM_033380.3(COL4A5):c.3454+8T>C
|
rs777110527
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NM_033380.3(COL4A5):c.3455-15T>A
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NM_033380.3(COL4A5):c.3455-16G>A
|
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NM_033380.3(COL4A5):c.3492C>A (p.Gly1164=)
|
rs967018326
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NM_033380.3(COL4A5):c.3492C>T (p.Gly1164=)
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NM_033380.3(COL4A5):c.3498A>G (p.Lys1166=)
|
|
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NM_033380.3(COL4A5):c.34T>C (p.Leu12=)
|
|
|
NM_033380.3(COL4A5):c.3507C>G (p.Pro1169=)
|
|
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NM_033380.3(COL4A5):c.3553+8A>C
|
|
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NM_033380.3(COL4A5):c.3553+9G>A
|
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NM_033380.3(COL4A5):c.3554-10A>C
|
rs750630727
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NM_033380.3(COL4A5):c.3558A>G (p.Gln1186=)
|
|
|
NM_033380.3(COL4A5):c.3576A>G (p.Pro1192=)
|
|
|
NM_033380.3(COL4A5):c.3592C>T (p.Pro1198Ser)
|
|
|
NM_033380.3(COL4A5):c.3597A>G (p.Gly1199=)
|
|
|
NM_033380.3(COL4A5):c.3600T>G (p.Leu1200=)
|
rs2147956512
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NM_033380.3(COL4A5):c.3604+10A>G
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NM_033380.3(COL4A5):c.3604+13A>C
|
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NM_033380.3(COL4A5):c.3604+13A>G
|
|
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NM_033380.3(COL4A5):c.3604+16A>T
|
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NM_033380.3(COL4A5):c.3604+17_3604+18insT
|
|
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NM_033380.3(COL4A5):c.3604+18A>T
|
|
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NM_033380.3(COL4A5):c.3604+20G>C
|
|
|
NM_033380.3(COL4A5):c.3604+6_3604+7insATG
|
|
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NM_033380.3(COL4A5):c.3604+9T>A
|
|
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NM_033380.3(COL4A5):c.3604+9T>G
|
rs2147956574
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NM_033380.3(COL4A5):c.3605-11T>C
|
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NM_033380.3(COL4A5):c.3605-12T>C
|
|
|
NM_033380.3(COL4A5):c.3605-15A>G
|
|
|
NM_033380.3(COL4A5):c.3605-39_3605-19del
|
|
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NM_033380.3(COL4A5):c.3605-3T>C
|
rs2147958955
|
|
NM_033380.3(COL4A5):c.3605-5C>T
|
|
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NM_033380.3(COL4A5):c.3618T>C (p.Asp1206=)
|
rs2147959025
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NM_033380.3(COL4A5):c.3621A>G (p.Gly1207=)
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rs2147959037
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NM_033380.3(COL4A5):c.3624A>C (p.Gly1208=)
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NM_033380.3(COL4A5):c.3669C>A (p.Gly1223=)
|
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NM_033380.3(COL4A5):c.3696T>C (p.Gly1232=)
|
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|
NM_033380.3(COL4A5):c.3699G>A (p.Val1233=)
|
|
|
NM_033380.3(COL4A5):c.3750T>C (p.Pro1250=)
|
|
|
NM_033380.3(COL4A5):c.3770A>G (p.Gln1257Arg)
|
|
|
NM_033380.3(COL4A5):c.3809-10G>C
|
|
|
NM_033380.3(COL4A5):c.3809-13G>T
|
|
|
NM_033380.3(COL4A5):c.3809-15C>T
|
|
|
NM_033380.3(COL4A5):c.3809-4del
|
|
|
NM_033380.3(COL4A5):c.3809-7T>A
|
|
|
NM_033380.3(COL4A5):c.3809-9A>C
|
rs2147974756
|
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NM_033380.3(COL4A5):c.3819T>A (p.Gly1273=)
|
rs775815758
|
|
NM_033380.3(COL4A5):c.3837T>C (p.Gly1279=)
|
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NM_033380.3(COL4A5):c.384+7T>A
|
|
|
NM_033380.3(COL4A5):c.3840C>G (p.Leu1280=)
|
|
|
NM_033380.3(COL4A5):c.385-11A>T
|
|
|
NM_033380.3(COL4A5):c.385-20T>C
|
|
|
NM_033380.3(COL4A5):c.385-7C>T
|
|
|
NM_033380.3(COL4A5):c.3876T>C (p.Asn1292=)
|
|
|
NM_033380.3(COL4A5):c.3887C>T (p.Pro1296Leu)
|
|
|
NM_033380.3(COL4A5):c.3891G>T (p.Gly1297=)
|
rs2068331232
|
|
NM_033380.3(COL4A5):c.3892C>T (p.Leu1298=)
|
|
|
NM_033380.3(COL4A5):c.3903G>A (p.Leu1301=)
|
rs1603314032
|
|
NM_033380.3(COL4A5):c.3927A>C (p.Gly1309=)
|
rs2147975100
|
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NM_033380.3(COL4A5):c.3942+18A>G
|
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NM_033380.3(COL4A5):c.3943-14T>C
|
|
|
NM_033380.3(COL4A5):c.3943-6A>T
|
|
|
NM_033380.3(COL4A5):c.3948T>C (p.Asn1316=)
|
|
|
NM_033380.3(COL4A5):c.3956G>A (p.Arg1319Gln)
|
|
|
NM_033380.3(COL4A5):c.3984T>C (p.Asp1328=)
|
|
|
NM_033380.3(COL4A5):c.3987T>C (p.Pro1329=)
|
|
|
NM_033380.3(COL4A5):c.3991C>T (p.Leu1331Phe)
|
|
|
NM_033380.3(COL4A5):c.4015+12G>A
|
|
|
NM_033380.3(COL4A5):c.4015+19G>A
|
|
|
NM_033380.3(COL4A5):c.4015+19G>C
|
|
|
NM_033380.3(COL4A5):c.4016-14T>C
|
|
|
NM_033380.3(COL4A5):c.4016-15G>A
|
|
|
NM_033380.3(COL4A5):c.4016-17A>G
|
|
|
NM_033380.3(COL4A5):c.4016-20T>C
|
|
|
NM_033380.3(COL4A5):c.402A>G (p.Pro134=)
|
|
|
NM_033380.3(COL4A5):c.4050T>C (p.Ala1350=)
|
|
|
NM_033380.3(COL4A5):c.4065A>G (p.Glu1355=)
|
|
|
NM_033380.3(COL4A5):c.4067C>T (p.Pro1356Leu)
|
|
|
NM_033380.3(COL4A5):c.4068G>T (p.Pro1356=)
|
rs368359594
|
|
NM_033380.3(COL4A5):c.406A>G (p.Ser136Gly)
|
rs768580195
|
|
NM_033380.3(COL4A5):c.4076T>C (p.Ile1359Thr)
|
|
|
NM_033380.3(COL4A5):c.4087+11T>C
|
|
|
NM_033380.3(COL4A5):c.4087+19G>A
|
|
|
NM_033380.3(COL4A5):c.4088-20_4088-19del
|
|
|
NM_033380.3(COL4A5):c.4088-4A>C
|
rs1182702800
|
|
NM_033380.3(COL4A5):c.4088-4A>G
|
|
|
NM_033380.3(COL4A5):c.4088-5C>G
|
rs2147981998
|
|
NM_033380.3(COL4A5):c.4088-5C>T
|
|
|
NM_033380.3(COL4A5):c.4088-9G>A
|
rs1603318004
|
|
NM_033380.3(COL4A5):c.4089T>C (p.Gly1363=)
|
rs1011484409
|
|
NM_033380.3(COL4A5):c.4089T>G (p.Gly1363=)
|
rs1011484409
|
|
NM_033380.3(COL4A5):c.4197A>G (p.Gln1399=)
|
rs2147982304
|
|
NM_033380.3(COL4A5):c.4216+15C>T
|
|
|
NM_033380.3(COL4A5):c.4216+1_4216+6dup
|
rs2147982368
|
|
NM_033380.3(COL4A5):c.4217-16C>T
|
|
|
NM_033380.3(COL4A5):c.4217-18C>A
|
|
|
NM_033380.3(COL4A5):c.4217-19C>T
|
|
|
NM_033380.3(COL4A5):c.4217-6C>G
|
|
|
NM_033380.3(COL4A5):c.4245A>C (p.Gly1415=)
|
rs2147989224
|
|
NM_033380.3(COL4A5):c.4248C>T (p.Arg1416=)
|
|
|
NM_033380.3(COL4A5):c.4266T>C (p.Phe1422=)
|
|
|
NM_033380.3(COL4A5):c.4282C>T (p.Arg1428Cys)
|
rs144282156
|
|
NM_033380.3(COL4A5):c.4299T>A (p.Gly1433=)
|
rs2147989416
|
|
NM_033380.3(COL4A5):c.4302G>T (p.Leu1434=)
|
|
|
NM_033380.3(COL4A5):c.4315+20C>A
|
|
|
NM_033380.3(COL4A5):c.4315+7C>T
|
|
|
NM_033380.3(COL4A5):c.4316-10G>C
|
rs778775294
|
|
NM_033380.3(COL4A5):c.4316-12T>C
|
|
|
NM_033380.3(COL4A5):c.4316-13T>G
|
|
|
NM_033380.3(COL4A5):c.4338C>T (p.Pro1446=)
|
rs2068569299
|
|
NM_033380.3(COL4A5):c.4353A>G (p.Gly1451=)
|
|
|
NM_033380.3(COL4A5):c.4368A>C (p.Pro1456=)
|
rs2147991325
|
|
NM_033380.3(COL4A5):c.4371T>G (p.Gly1457=)
|
|
|
NM_033380.3(COL4A5):c.4374C>T (p.Pro1458=)
|
rs2147991340
|
|
NM_033380.3(COL4A5):c.438+9T>C
|
|
|
NM_033380.3(COL4A5):c.4382C>A (p.Thr1461Asn)
|
|
|
NM_033380.3(COL4A5):c.4383C>T (p.Thr1461=)
|
|
|
NM_033380.3(COL4A5):c.4386C>T (p.Ser1462=)
|
|
|
NM_033380.3(COL4A5):c.4389T>C (p.Ser1463=)
|
|
|
NM_033380.3(COL4A5):c.4392T>C (p.Val1464=)
|
|
|
NM_033380.3(COL4A5):c.4401A>G (p.Gly1467=)
|
|
|
NM_033380.3(COL4A5):c.4405C>G (p.Leu1469Val)
|
|
|
NM_033380.3(COL4A5):c.4449A>C (p.Pro1483=)
|
|
|
NM_033380.3(COL4A5):c.4449A>G (p.Pro1483=)
|
rs2068573805
|
|
NM_033380.3(COL4A5):c.4464G>A (p.Gln1488=)
|
|
|
NM_033380.3(COL4A5):c.4473A>G (p.Glu1491=)
|
|
|
NM_033380.3(COL4A5):c.4486C>T (p.Leu1496=)
|
|
|
NM_033380.3(COL4A5):c.4488G>A (p.Leu1496=)
|
|
|
NM_033380.3(COL4A5):c.4491T>C (p.Tyr1497=)
|
|
|
NM_033380.3(COL4A5):c.4512C>T (p.Ala1504=)
|
rs2068575627
|
|
NM_033380.3(COL4A5):c.4516G>A (p.Gly1506Ser)
|
rs750993623
|
|
NM_033380.3(COL4A5):c.4524C>T (p.Asp1508=)
|
|
|
NM_033380.3(COL4A5):c.4528+15A>G
|
|
|
NM_033380.3(COL4A5):c.4528+16T>C
|
|
|
NM_033380.3(COL4A5):c.4529-4C>T
|
rs2147998285
|
|
NM_033380.3(COL4A5):c.4530G>A (p.Gly1510=)
|
|
|
NM_033380.3(COL4A5):c.4539C>A (p.Gly1513=)
|
|
|
NM_033380.3(COL4A5):c.453C>T (p.Ile151=)
|
rs2147755078
|
|
NM_033380.3(COL4A5):c.4587C>T (p.Ile1529=)
|
rs1603326508
|
|
NM_033380.3(COL4A5):c.4593T>C (p.Asn1531=)
|
|
|
NM_033380.3(COL4A5):c.4605T>C (p.Phe1535=)
|
|
|
NM_033380.3(COL4A5):c.4617T>C (p.Asn1539=)
|
rs2147998532
|
|
NM_033380.3(COL4A5):c.4629C>T (p.Tyr1543=)
|
|
|
NM_033380.3(COL4A5):c.465+10T>C
|
|
|
NM_033380.3(COL4A5):c.465+11C>T
|
|
|
NM_033380.3(COL4A5):c.465+19G>A
|
|
|
NM_033380.3(COL4A5):c.465+20G>C
|
|
|
NM_033380.3(COL4A5):c.465+8T>G
|
|
|
NM_033380.3(COL4A5):c.466-17T>C
|
|
|
NM_033380.3(COL4A5):c.4674A>G (p.Leu1558=)
|
|
|
NM_033380.3(COL4A5):c.4701T>C (p.Ile1567=)
|
|
|
NM_033380.3(COL4A5):c.4706+12A>T
|
|
|
NM_033380.3(COL4A5):c.4706+17G>C
|
|
|
NM_033380.3(COL4A5):c.4706+8A>G
|
|
|
NM_033380.3(COL4A5):c.4706+9T>C
|
rs2147998824
|
|
NM_033380.3(COL4A5):c.4707-9C>A
|
rs2148001442
|
|
NM_033380.3(COL4A5):c.4726C>T (p.Pro1576Ser)
|
rs747041833
|
|
NM_033380.3(COL4A5):c.4743A>C (p.Ala1581=)
|
|
|
NM_033380.3(COL4A5):c.4758G>T (p.Thr1586=)
|
rs761701751
|
|
NM_033380.3(COL4A5):c.4767T>A (p.Ile1589=)
|
|
|
NM_033380.3(COL4A5):c.4767T>C (p.Ile1589=)
|
|
|
NM_033380.3(COL4A5):c.4772A>G (p.His1591Arg)
|
|
|
NM_033380.3(COL4A5):c.4822-15C>T
|
|
|
NM_033380.3(COL4A5):c.4836G>A (p.Gly1612=)
|
rs2148002228
|
|
NM_033380.3(COL4A5):c.4839A>G (p.Ala1613=)
|
rs1603328402
|
|
NM_033380.3(COL4A5):c.4845C>T (p.Gly1615=)
|
|
|
NM_033380.3(COL4A5):c.4848A>G (p.Ser1616=)
|
|
|
NM_033380.3(COL4A5):c.4875C>T (p.Ser1625=)
|
rs2148002328
|
|
NM_033380.3(COL4A5):c.4887G>A (p.Glu1629=)
|
|
|
NM_033380.3(COL4A5):c.4896A>G (p.Ser1632=)
|
rs2148002365
|
|
NM_033380.3(COL4A5):c.4902C>T (p.Pro1634=)
|
rs1211062980
|
|
NM_033380.3(COL4A5):c.4911A>G (p.Glu1637=)
|
|
|
NM_033380.3(COL4A5):c.4953C>T (p.Tyr1651=)
|
rs2148002492
|
|
NM_033380.3(COL4A5):c.4963C>T (p.Leu1655=)
|
|
|
NM_033380.3(COL4A5):c.496C>T (p.Leu166=)
|
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NM_033380.3(COL4A5):c.687+19del
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NM_033380.3(COL4A5):c.81+75del
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NM_033380.3(COL4A5):c.82-15_82-14del
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NM_033380.3(COL4A5):c.937-170dup
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