ClinVar Miner

List of variants in gene COL4A5 reported as likely benign for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 887
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HGVS dbSNP gnomAD frequency
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
NM_033380.3(COL4A5):c.1363C>T (p.Pro455Ser) rs778074923 0.00001
NM_033380.3(COL4A5):c.1365T>C (p.Pro455=) rs1483658224 0.00001
NM_033380.3(COL4A5):c.1407A>G (p.Gly469=) rs1251270737 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.1437C>T (p.Asp479=) rs1196880080 0.00001
NM_033380.3(COL4A5):c.1478C>T (p.Pro493Leu) rs1478982997 0.00001
NM_033380.3(COL4A5):c.1588-16T>C rs756102411 0.00001
NM_033380.3(COL4A5):c.1635T>G (p.Gly545=) rs1329747854 0.00001
NM_033380.3(COL4A5):c.1687T>C (p.Leu563=) rs1412119013 0.00001
NM_033380.3(COL4A5):c.1740G>A (p.Gln580=) rs768411547 0.00001
NM_033380.3(COL4A5):c.1864C>T (p.Pro622Ser) rs768284614 0.00001
NM_033380.3(COL4A5):c.1980C>G (p.Thr660=) rs1318687614 0.00001
NM_033380.3(COL4A5):c.2042-5C>T rs746668421 0.00001
NM_033380.3(COL4A5):c.220C>T (p.Arg74Trp) rs1052281498 0.00001
NM_033380.3(COL4A5):c.2226C>T (p.Pro742=) rs1456905740 0.00001
NM_033380.3(COL4A5):c.2277T>G (p.Pro759=) rs1415670653 0.00001
NM_033380.3(COL4A5):c.2298T>A (p.Gly766=) rs750106548 0.00001
NM_033380.3(COL4A5):c.2329C>T (p.Arg777Cys) rs779033931 0.00001
NM_033380.3(COL4A5):c.2330G>A (p.Arg777His) rs200371339 0.00001
NM_033380.3(COL4A5):c.2362C>T (p.Arg788Cys) rs762935451 0.00001
NM_033380.3(COL4A5):c.2395+8G>A rs761186412 0.00001
NM_033380.3(COL4A5):c.2426C>T (p.Pro809Leu) rs771340366 0.00001
NM_033380.3(COL4A5):c.2481A>G (p.Pro827=) rs774103829 0.00001
NM_033380.3(COL4A5):c.2486T>A (p.Ile829Asn) rs1339599990 0.00001
NM_033380.3(COL4A5):c.2547A>G (p.Gly849=) rs1187274890 0.00001
NM_033380.3(COL4A5):c.255A>G (p.Pro85=) rs1457422538 0.00001
NM_033380.3(COL4A5):c.2598G>C (p.Gly866=) rs778559078 0.00001
NM_033380.3(COL4A5):c.2607A>G (p.Gly869=) rs199499525 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.2718A>G (p.Pro906=) rs777586587 0.00001
NM_033380.3(COL4A5):c.2751T>C (p.Gly917=) rs757276655 0.00001
NM_033380.3(COL4A5):c.279T>A (p.Gly93=) rs1267904129 0.00001
NM_033380.3(COL4A5):c.2823T>C (p.Gly941=) rs1295043040 0.00001
NM_033380.3(COL4A5):c.2853T>C (p.Pro951=) rs1007300513 0.00001
NM_033380.3(COL4A5):c.2865G>A (p.Met955Ile) rs1350078739 0.00001
NM_033380.3(COL4A5):c.2992C>A (p.Gln998Lys) rs756070988 0.00001
NM_033380.3(COL4A5):c.3012A>G (p.Pro1004=) rs754539134 0.00001
NM_033380.3(COL4A5):c.3084C>T (p.Thr1028=) rs141043288 0.00001
NM_033380.3(COL4A5):c.3095T>C (p.Met1032Thr) rs754487739 0.00001
NM_033380.3(COL4A5):c.3141T>C (p.Ser1047=) rs1350852221 0.00001
NM_033380.3(COL4A5):c.3155A>C (p.Gln1052Pro) rs1193080627 0.00001
NM_033380.3(COL4A5):c.3189C>T (p.Gly1063=) rs768698527 0.00001
NM_033380.3(COL4A5):c.321+9C>T rs1366547683 0.00001
NM_033380.3(COL4A5):c.3267A>G (p.Gly1089=) rs1189457805 0.00001
NM_033380.3(COL4A5):c.3374-5T>C rs1172867384 0.00001
NM_033380.3(COL4A5):c.3378C>T (p.Thr1126=) rs1392659283 0.00001
NM_033380.3(COL4A5):c.3503A>T (p.Lys1168Ile) rs1256002376 0.00001
NM_033380.3(COL4A5):c.3507C>T (p.Pro1169=) rs764389956 0.00001
NM_033380.3(COL4A5):c.3604+7C>T rs758387814 0.00001
NM_033380.3(COL4A5):c.3605-4A>G rs1448725381 0.00001
NM_033380.3(COL4A5):c.3609A>G (p.Gln1203=) rs767920190 0.00001
NM_033380.3(COL4A5):c.3678C>A (p.Gly1226=) rs1212232547 0.00001
NM_033380.3(COL4A5):c.3725C>T (p.Ser1242Phe) rs777716706 0.00001
NM_033380.3(COL4A5):c.3732T>C (p.Gly1244=) rs1477546465 0.00001
NM_033380.3(COL4A5):c.3838C>T (p.Leu1280Phe) rs146223261 0.00001
NM_033380.3(COL4A5):c.384+10A>G rs1569488440 0.00001
NM_033380.3(COL4A5):c.3906T>C (p.Pro1302=) rs1353809764 0.00001
NM_033380.3(COL4A5):c.3931C>T (p.Pro1311Ser) rs752050845 0.00001
NM_033380.3(COL4A5):c.405C>T (p.Gly135=) rs370754104 0.00001
NM_033380.3(COL4A5):c.4071A>G (p.Gly1357=) rs766806328 0.00001
NM_033380.3(COL4A5):c.4216+17T>C rs780015519 0.00001
NM_033380.3(COL4A5):c.4216+7A>G rs376840709 0.00001
NM_033380.3(COL4A5):c.4239T>A (p.Asp1413Glu) rs755903473 0.00001
NM_033380.3(COL4A5):c.4281G>A (p.Gly1427=) rs918084506 0.00001
NM_033380.3(COL4A5):c.4322G>A (p.Arg1441His) rs1225113105 0.00001
NM_033380.3(COL4A5):c.4337C>A (p.Pro1446His) rs777215640 0.00001
NM_033380.3(COL4A5):c.4344T>C (p.Gly1448=) rs770423254 0.00001
NM_033380.3(COL4A5):c.435T>C (p.Pro145=) rs776235806 0.00001
NM_033380.3(COL4A5):c.4388C>G (p.Ser1463Cys) rs1423271363 0.00001
NM_033380.3(COL4A5):c.4430C>T (p.Thr1477Met) rs770328581 0.00001
NM_033380.3(COL4A5):c.444C>T (p.Pro148=) rs1391900494 0.00001
NM_033380.3(COL4A5):c.4458A>G (p.Thr1486=) rs1276235525 0.00001
NM_033380.3(COL4A5):c.4515C>T (p.His1505=) rs764098128 0.00001
NM_033380.3(COL4A5):c.4525T>C (p.Leu1509=) rs1603323457 0.00001
NM_033380.3(COL4A5):c.4532C>T (p.Thr1511Met) rs1018378168 0.00001
NM_033380.3(COL4A5):c.4586T>C (p.Ile1529Thr) rs749580257 0.00001
NM_033380.3(COL4A5):c.4602C>T (p.Asn1534=) rs755394976 0.00001
NM_033380.3(COL4A5):c.4641C>A (p.Thr1547=) rs747105248 0.00001
NM_033380.3(COL4A5):c.4737G>A (p.Val1579=) rs781238906 0.00001
NM_033380.3(COL4A5):c.4740C>T (p.Ile1580=) rs1036002833 0.00001
NM_033380.3(COL4A5):c.4758G>A (p.Thr1586=) rs761701751 0.00001
NM_033380.3(COL4A5):c.48C>G (p.Ala16=) rs372737604 0.00001
NM_033380.3(COL4A5):c.4908C>T (p.Ile1636=) rs775172495 0.00001
NM_033380.3(COL4A5):c.546+9C>A rs779710778 0.00001
NM_033380.3(COL4A5):c.549C>A (p.Gly183=) rs1362028663 0.00001
NM_033380.3(COL4A5):c.555T>C (p.Pro185=) rs1261311680 0.00001
NM_033380.3(COL4A5):c.609+8C>T rs906883110 0.00001
NM_033380.3(COL4A5):c.646-10C>T rs1324556985 0.00001
NM_033380.3(COL4A5):c.771A>G (p.Lys257=) rs1431497601 0.00001
NM_033380.3(COL4A5):c.82-4A>G rs761942249 0.00001
NM_033380.3(COL4A5):c.82-7C>T rs1447272372 0.00001
NM_033380.3(COL4A5):c.891+9T>C rs779787322 0.00001
NM_033380.3(COL4A5):c.903C>A (p.Gly301=) rs989874696 0.00001
NM_033380.3(COL4A5):c.942G>A (p.Leu314=) rs148489255 0.00001
NM_033380.3(COL4A5):c.980A>G (p.Asp327Gly) rs1443836040 0.00001
NM_033380.3(COL4A5):c.981T>C (p.Asp327=) rs1165228239 0.00001
NM_033380.3(COL4A5):c.9G>A (p.Leu3=) rs763257714 0.00001
NM_033380.3(COL4A5):c.*51A>T
NM_033380.3(COL4A5):c.-25_-8dup rs752443408
NM_033380.3(COL4A5):c.1005C>T (p.Asp335=) rs1569491741
NM_033380.3(COL4A5):c.1008T>G (p.Thr336=)
NM_033380.3(COL4A5):c.1026T>C (p.Pro342=) rs2147784444
NM_033380.3(COL4A5):c.102A>G (p.Pro34=)
NM_033380.3(COL4A5):c.1032+18A>T
NM_033380.3(COL4A5):c.1032+18del
NM_033380.3(COL4A5):c.1032+19G>A
NM_033380.3(COL4A5):c.1033-14C>T
NM_033380.3(COL4A5):c.1033-15T>C
NM_033380.3(COL4A5):c.1033-15del rs104886089
NM_033380.3(COL4A5):c.1040C>T (p.Pro347Leu)
NM_033380.3(COL4A5):c.1046C>T (p.Pro349Leu)
NM_033380.3(COL4A5):c.1047T>C (p.Pro349=) rs1166405194
NM_033380.3(COL4A5):c.1053T>A (p.Thr351=)
NM_033380.3(COL4A5):c.105A>T (p.Gly35=)
NM_033380.3(COL4A5):c.1086G>A (p.Gly362=) rs773438026
NM_033380.3(COL4A5):c.1092T>C (p.Pro364=) rs1484901023
NM_033380.3(COL4A5):c.1095G>T (p.Gly365=)
NM_033380.3(COL4A5):c.1117C>A (p.Arg373=)
NM_033380.3(COL4A5):c.1155T>G (p.Pro385=) rs2147788468
NM_033380.3(COL4A5):c.1165+14C>T
NM_033380.3(COL4A5):c.1165+15A>G
NM_033380.3(COL4A5):c.1166-16C>T
NM_033380.3(COL4A5):c.1221G>A (p.Gln407=)
NM_033380.3(COL4A5):c.1230T>C (p.Asp410=)
NM_033380.3(COL4A5):c.1254T>C (p.Ile418=) rs2147796892
NM_033380.3(COL4A5):c.1257T>G (p.Pro419=)
NM_033380.3(COL4A5):c.1278A>T (p.Gly426=)
NM_033380.3(COL4A5):c.1288G>A (p.Ala430Thr)
NM_033380.3(COL4A5):c.1293T>C (p.Pro431=) rs772323190
NM_033380.3(COL4A5):c.1314C>T (p.Gly438=)
NM_033380.3(COL4A5):c.1323C>A (p.Gly441=)
NM_033380.3(COL4A5):c.1326T>A (p.Pro442=) rs997961006
NM_033380.3(COL4A5):c.132A>C (p.Lys44Asn)
NM_033380.3(COL4A5):c.132A>G (p.Lys44=) rs752179960
NM_033380.3(COL4A5):c.1339+15T>G
NM_033380.3(COL4A5):c.1339+19C>T
NM_033380.3(COL4A5):c.1340-11A>G
NM_033380.3(COL4A5):c.1340-5C>T
NM_033380.3(COL4A5):c.1365T>A (p.Pro455=) rs1483658224
NM_033380.3(COL4A5):c.1371C>G (p.Gly457=)
NM_033380.3(COL4A5):c.1371C>T (p.Gly457=)
NM_033380.3(COL4A5):c.1374C>T (p.Pro458=) rs2147798049
NM_033380.3(COL4A5):c.1380A>T (p.Gly460=)
NM_033380.3(COL4A5):c.138A>G (p.Glu46=)
NM_033380.3(COL4A5):c.141+7T>A
NM_033380.3(COL4A5):c.1419G>T (p.Val473=) rs2147798235
NM_033380.3(COL4A5):c.142-14T>G
NM_033380.3(COL4A5):c.142-5T>C
NM_033380.3(COL4A5):c.1423+13A>G
NM_033380.3(COL4A5):c.1423+16A>T
NM_033380.3(COL4A5):c.1424-10A>T
NM_033380.3(COL4A5):c.1427A>G (p.Asp476Gly)
NM_033380.3(COL4A5):c.1449C>T (p.Asn483=) rs2147805867
NM_033380.3(COL4A5):c.1470A>G (p.Ser490=)
NM_033380.3(COL4A5):c.1473G>A (p.Gly491=)
NM_033380.3(COL4A5):c.1479A>G (p.Pro493=)
NM_033380.3(COL4A5):c.148A>C (p.Arg50=)
NM_033380.3(COL4A5):c.1503C>G (p.Leu501=)
NM_033380.3(COL4A5):c.1509T>A (p.Gly503=) rs2147806200
NM_033380.3(COL4A5):c.1509T>C (p.Gly503=)
NM_033380.3(COL4A5):c.1511C>T (p.Pro504Leu)
NM_033380.3(COL4A5):c.1516+18G>C
NM_033380.3(COL4A5):c.1516+18G>T
NM_033380.3(COL4A5):c.1516+8A>T
NM_033380.3(COL4A5):c.1516+9T>G rs2147806248
NM_033380.3(COL4A5):c.1517-10T>C
NM_033380.3(COL4A5):c.1517-11G>T
NM_033380.3(COL4A5):c.1517-17G>A
NM_033380.3(COL4A5):c.1517-18TG[6]
NM_033380.3(COL4A5):c.1517-18TG[8] rs754130339
NM_033380.3(COL4A5):c.1517-18TG[9]
NM_033380.3(COL4A5):c.1517-25_1517-4del
NM_033380.3(COL4A5):c.1517-5G>A
NM_033380.3(COL4A5):c.1517-5G>T rs1603289840
NM_033380.3(COL4A5):c.1530C>T (p.Phe510=) rs2147809019
NM_033380.3(COL4A5):c.1548A>G (p.Glu516=)
NM_033380.3(COL4A5):c.1569T>C (p.Thr523=)
NM_033380.3(COL4A5):c.156T>C (p.Phe52=)
NM_033380.3(COL4A5):c.1587+10G>C
NM_033380.3(COL4A5):c.1587+12G>A
NM_033380.3(COL4A5):c.1587+16A>G
NM_033380.3(COL4A5):c.1587+7T>G
NM_033380.3(COL4A5):c.1587+8T>C rs769378322
NM_033380.3(COL4A5):c.1588-15C>T
NM_033380.3(COL4A5):c.1588-17T>C
NM_033380.3(COL4A5):c.1588-19T>A
NM_033380.3(COL4A5):c.1588-8C>G
NM_033380.3(COL4A5):c.159A>G (p.Pro53=) rs1270497316
NM_033380.3(COL4A5):c.1617C>A (p.Gly539=) rs971966005
NM_033380.3(COL4A5):c.1620T>C (p.Phe540=) rs2147810042
NM_033380.3(COL4A5):c.1640C>T (p.Pro547Leu)
NM_033380.3(COL4A5):c.1644T>C (p.Gly548=)
NM_033380.3(COL4A5):c.1659T>C (p.Phe553=) rs2147810213
NM_033380.3(COL4A5):c.165G>A (p.Leu55=)
NM_033380.3(COL4A5):c.1662A>G (p.Pro554=) rs2147810230
NM_033380.3(COL4A5):c.1665A>C (p.Gly555=) rs2147810238
NM_033380.3(COL4A5):c.1674T>A (p.Gly558=)
NM_033380.3(COL4A5):c.1686G>A (p.Glu562=)
NM_033380.3(COL4A5):c.1689G>A (p.Leu563=)
NM_033380.3(COL4A5):c.1692T>C (p.Gly564=) rs2147810324
NM_033380.3(COL4A5):c.1719T>C (p.Gly573=)
NM_033380.3(COL4A5):c.1728C>A (p.Gly576=)
NM_033380.3(COL4A5):c.172C>T (p.His58Tyr)
NM_033380.3(COL4A5):c.1752A>G (p.Pro584=)
NM_033380.3(COL4A5):c.1755G>A (p.Gly585=) rs2147810492
NM_033380.3(COL4A5):c.1755G>T (p.Gly585=)
NM_033380.3(COL4A5):c.1779+14A>G
NM_033380.3(COL4A5):c.1779+16A>G
NM_033380.3(COL4A5):c.1780-16A>T
NM_033380.3(COL4A5):c.1780-4T>G rs2147813189
NM_033380.3(COL4A5):c.1794T>C (p.Phe598=)
NM_033380.3(COL4A5):c.1797G>A (p.Lys599=)
NM_033380.3(COL4A5):c.1815T>C (p.Pro605=)
NM_033380.3(COL4A5):c.1818G>A (p.Gly606=) rs2066568906
NM_033380.3(COL4A5):c.1818G>T (p.Gly606=)
NM_033380.3(COL4A5):c.1824A>C (p.Pro608=)
NM_033380.3(COL4A5):c.1828T>C (p.Leu610=) rs2147813373
NM_033380.3(COL4A5):c.1833A>G (p.Pro611=)
NM_033380.3(COL4A5):c.1839C>T (p.Leu613=) rs2147813430
NM_033380.3(COL4A5):c.1845G>C (p.Gly615=)
NM_033380.3(COL4A5):c.1846A>T (p.Asn616Tyr)
NM_033380.3(COL4A5):c.1848T>C (p.Asn616=)
NM_033380.3(COL4A5):c.1875C>T (p.Phe625=)
NM_033380.3(COL4A5):c.1889C>T (p.Pro630Leu)
NM_033380.3(COL4A5):c.1905C>T (p.Gly635=)
NM_033380.3(COL4A5):c.1948+13T>G
NM_033380.3(COL4A5):c.1948+15T>C rs2147813980
NM_033380.3(COL4A5):c.1948+16T>C
NM_033380.3(COL4A5):c.1948+216C>A rs143000039
NM_033380.3(COL4A5):c.1948+8T>A
NM_033380.3(COL4A5):c.1949-9T>C rs2147819201
NM_033380.3(COL4A5):c.195A>G (p.Pro65=)
NM_033380.3(COL4A5):c.1965A>G (p.Pro655=)
NM_033380.3(COL4A5):c.1972A>C (p.Thr658Pro) rs747768366
NM_033380.3(COL4A5):c.1985C>T (p.Pro662Leu)
NM_033380.3(COL4A5):c.1986G>A (p.Pro662=)
NM_033380.3(COL4A5):c.1992G>A (p.Lys664=) rs34077552
NM_033380.3(COL4A5):c.2004T>A (p.Pro668=) rs376003159
NM_033380.3(COL4A5):c.2010C>T (p.Asn670=)
NM_033380.3(COL4A5):c.2041+10G>A rs2147819631
NM_033380.3(COL4A5):c.2041+16A>G
NM_033380.3(COL4A5):c.2041+20C>A
NM_033380.3(COL4A5):c.2041+59_2041+61del rs61506795
NM_033380.3(COL4A5):c.2041+7G>A rs2066627347
NM_033380.3(COL4A5):c.2041+9G>T rs2147819622
NM_033380.3(COL4A5):c.2042-12G>A
NM_033380.3(COL4A5):c.2042-14C>A
NM_033380.3(COL4A5):c.2042-8C>T rs2147820793
NM_033380.3(COL4A5):c.2042-9del
NM_033380.3(COL4A5):c.2052A>G (p.Gly684=)
NM_033380.3(COL4A5):c.2071T>C (p.Leu691=)
NM_033380.3(COL4A5):c.2073G>A (p.Leu691=)
NM_033380.3(COL4A5):c.2082A>T (p.Ile694=)
NM_033380.3(COL4A5):c.2100A>G (p.Glu700=) rs1603292056
NM_033380.3(COL4A5):c.2109C>A (p.Ile703=)
NM_033380.3(COL4A5):c.2109C>T (p.Ile703=) rs369092053
NM_033380.3(COL4A5):c.2139T>C (p.Gly713=)
NM_033380.3(COL4A5):c.2147-11T>C
NM_033380.3(COL4A5):c.2147-4A>G rs2147823315
NM_033380.3(COL4A5):c.2147-5_2147-4insCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAATGACTTATCATTTT
NM_033380.3(COL4A5):c.2148C>T (p.Gly716=) rs2147823356
NM_033380.3(COL4A5):c.2172A>C (p.Pro724=)
NM_033380.3(COL4A5):c.221G>A (p.Arg74Gln) rs137930367
NM_033380.3(COL4A5):c.2220G>T (p.Gly740=) rs2147823670
NM_033380.3(COL4A5):c.2229C>A (p.Gly743=)
NM_033380.3(COL4A5):c.2229C>G (p.Gly743=)
NM_033380.3(COL4A5):c.2244+10A>T
NM_033380.3(COL4A5):c.2244+14T>C
NM_033380.3(COL4A5):c.2244+18T>A
NM_033380.3(COL4A5):c.2244+196C>A rs866710848
NM_033380.3(COL4A5):c.2244+215_2244+216del rs762022225
NM_033380.3(COL4A5):c.2244+215_2244+216dup rs762022225
NM_033380.3(COL4A5):c.2244+216del rs762022225
NM_033380.3(COL4A5):c.2244+216dup rs762022225
NM_033380.3(COL4A5):c.2244+5G>A
NM_033380.3(COL4A5):c.2245-5T>C rs2147831923
NM_033380.3(COL4A5):c.2245-9A>G
NM_033380.3(COL4A5):c.2262A>G (p.Ala754=) rs2147831982
NM_033380.3(COL4A5):c.2277T>A (p.Pro759=)
NM_033380.3(COL4A5):c.2286A>C (p.Pro762=) rs369726425
NM_033380.3(COL4A5):c.22C>T (p.Leu8=)
NM_033380.3(COL4A5):c.231+3A>G
NM_033380.3(COL4A5):c.232-10C>G rs2065932878
NM_033380.3(COL4A5):c.232-20A>G
NM_033380.3(COL4A5):c.232-9A>C
NM_033380.3(COL4A5):c.2346T>G (p.Pro782=)
NM_033380.3(COL4A5):c.234T>C (p.Gly78=) rs2147734784
NM_033380.3(COL4A5):c.2355T>C (p.Pro785=)
NM_033380.3(COL4A5):c.2364C>T (p.Arg788=)
NM_033380.3(COL4A5):c.2373A>G (p.Leu791=) rs2147832508
NM_033380.3(COL4A5):c.2392A>G (p.Lys798Glu)
NM_033380.3(COL4A5):c.2396-17G>A
NM_033380.3(COL4A5):c.2403T>A (p.Val801=) rs747235110
NM_033380.3(COL4A5):c.2408C>T (p.Pro803Leu)
NM_033380.3(COL4A5):c.2412T>C (p.Asn804=)
NM_033380.3(COL4A5):c.2415A>T (p.Gly805=) rs2066899014
NM_033380.3(COL4A5):c.2418A>G (p.Gln806=)
NM_033380.3(COL4A5):c.2421T>C (p.Pro807=) rs2147849820
NM_033380.3(COL4A5):c.2427A>T (p.Pro809=)
NM_033380.3(COL4A5):c.2478A>G (p.Pro826=)
NM_033380.3(COL4A5):c.2484G>A (p.Gly828=)
NM_033380.3(COL4A5):c.2505A>G (p.Gln835=) rs1383769505
NM_033380.3(COL4A5):c.2509+10G>A
NM_033380.3(COL4A5):c.2509+11A>C rs2147850180
NM_033380.3(COL4A5):c.2509+12G>A
NM_033380.3(COL4A5):c.2509+20G>C
NM_033380.3(COL4A5):c.2509+7T>G
NM_033380.3(COL4A5):c.2509+8T>C rs2147850176
NM_033380.3(COL4A5):c.2509+98A>G rs143647223
NM_033380.3(COL4A5):c.2510-11G>T
NM_033380.3(COL4A5):c.2510-13T>C
NM_033380.3(COL4A5):c.2510-17G>A
NM_033380.3(COL4A5):c.2510-20A>G
NM_033380.3(COL4A5):c.2510-4C>T
NM_033380.3(COL4A5):c.2511T>C (p.Gly837=) rs2067012415
NM_033380.3(COL4A5):c.2520A>C (p.Gly840=)
NM_033380.3(COL4A5):c.2532G>A (p.Glu844=)
NM_033380.3(COL4A5):c.2535G>A (p.Lys845=)
NM_033380.3(COL4A5):c.2538G>A (p.Gly846=)
NM_033380.3(COL4A5):c.2547A>T (p.Gly849=)
NM_033380.3(COL4A5):c.2559T>C (p.Leu853=)
NM_033380.3(COL4A5):c.2574C>G (p.Pro858=)
NM_033380.3(COL4A5):c.2577A>G (p.Pro859=)
NM_033380.3(COL4A5):c.2580T>C (p.Gly860=)
NM_033380.3(COL4A5):c.258A>T (p.Pro86=)
NM_033380.3(COL4A5):c.2601C>T (p.Ile867=) rs2147860159
NM_033380.3(COL4A5):c.2604C>G (p.Pro868=) rs781337825
NM_033380.3(COL4A5):c.2610A>G (p.Ala870=)
NM_033380.3(COL4A5):c.2613T>C (p.Pro871=)
NM_033380.3(COL4A5):c.2640A>C (p.Pro880=)
NM_033380.3(COL4A5):c.2640A>T (p.Pro880=) rs749949606
NM_033380.3(COL4A5):c.2643G>A (p.Gly881=) rs2147860342
NM_033380.3(COL4A5):c.2664C>T (p.Ala888=)
NM_033380.3(COL4A5):c.2677+15G>A
NM_033380.3(COL4A5):c.2677+19T>C
NM_033380.3(COL4A5):c.2677+20C>T
NM_033380.3(COL4A5):c.2677+8del
NM_033380.3(COL4A5):c.2678-16T>A rs376960230
NM_033380.3(COL4A5):c.2678-16T>C
NM_033380.3(COL4A5):c.2682C>A (p.Thr894=)
NM_033380.3(COL4A5):c.2709T>C (p.Pro903=)
NM_033380.3(COL4A5):c.2715C>T (p.Gly905=)
NM_033380.3(COL4A5):c.2739T>G (p.Pro913=)
NM_033380.3(COL4A5):c.273C>A (p.Ile91=) rs767080664
NM_033380.3(COL4A5):c.2747G>A (p.Ser916Asn)
NM_033380.3(COL4A5):c.2751T>A (p.Gly917=)
NM_033380.3(COL4A5):c.2754A>G (p.Val918=) rs2067059947
NM_033380.3(COL4A5):c.2757T>C (p.Pro919=) rs2147863897
NM_033380.3(COL4A5):c.276+19A>G
NM_033380.3(COL4A5):c.276+7_276+8delinsGC rs2147734943
NM_033380.3(COL4A5):c.276+8G>C
NM_033380.3(COL4A5):c.276+9T>G rs2147734950
NM_033380.3(COL4A5):c.2760T>C (p.Gly920=)
NM_033380.3(COL4A5):c.2767+11A>C
NM_033380.3(COL4A5):c.2767+13G>C
NM_033380.3(COL4A5):c.2767+17G>T
NM_033380.3(COL4A5):c.2767+8T>C
NM_033380.3(COL4A5):c.2768-16C>T
NM_033380.3(COL4A5):c.2769T>C (p.Gly923=)
NM_033380.3(COL4A5):c.277-10C>A rs2147746039
NM_033380.3(COL4A5):c.277-17T>C
NM_033380.3(COL4A5):c.277-19A>G
NM_033380.3(COL4A5):c.277-4A>G
NM_033380.3(COL4A5):c.277-7C>A rs751723336
NM_033380.3(COL4A5):c.277-7C>G rs751723336
NM_033380.3(COL4A5):c.277-8del rs2147746050
NM_033380.3(COL4A5):c.2790G>A (p.Gln930=)
NM_033380.3(COL4A5):c.2793A>G (p.Pro931=)
NM_033380.3(COL4A5):c.2799T>C (p.Leu933=)
NM_033380.3(COL4A5):c.2802T>C (p.Pro934=)
NM_033380.3(COL4A5):c.2808T>C (p.Pro936=)
NM_033380.3(COL4A5):c.2829A>G (p.Lys943=) rs2147865705
NM_033380.3(COL4A5):c.2850C>T (p.Gly950=) rs2067081850
NM_033380.3(COL4A5):c.2859A>G (p.Gly953=)
NM_033380.3(COL4A5):c.2883C>T (p.Gly961=) rs2147865858
NM_033380.3(COL4A5):c.2886A>G (p.Ser962=)
NM_033380.3(COL4A5):c.2901G>T (p.Gly967=)
NM_033380.3(COL4A5):c.2916A>G (p.Pro972=) rs2067083801
NM_033380.3(COL4A5):c.2917+17A>G
NM_033380.3(COL4A5):c.2917+17A>T
NM_033380.3(COL4A5):c.2918-17C>G
NM_033380.3(COL4A5):c.2937G>A (p.Gly979=)
NM_033380.3(COL4A5):c.2946T>C (p.Gly982=)
NM_033380.3(COL4A5):c.2982A>G (p.Gly994=) rs1259964366
NM_033380.3(COL4A5):c.3000A>G (p.Gly1000=) rs2147869363
NM_033380.3(COL4A5):c.3003A>G (p.Leu1001=) rs2147869376
NM_033380.3(COL4A5):c.3016+10A>G
NM_033380.3(COL4A5):c.3016+7G>T
NM_033380.3(COL4A5):c.3017-11G>C
NM_033380.3(COL4A5):c.3017-13T>C
NM_033380.3(COL4A5):c.3017-15A>G
NM_033380.3(COL4A5):c.3017-16A>G
NM_033380.3(COL4A5):c.3017-6T>G
NM_033380.3(COL4A5):c.3037C>T (p.Leu1013Phe)
NM_033380.3(COL4A5):c.303A>G (p.Pro101=)
NM_033380.3(COL4A5):c.3045A>G (p.Gly1015=)
NM_033380.3(COL4A5):c.3067C>A (p.Pro1023Thr)
NM_033380.3(COL4A5):c.30C>T (p.Ala10=)
NM_033380.3(COL4A5):c.3106+6TGA[3]
NM_033380.3(COL4A5):c.3107-20A>C
NM_033380.3(COL4A5):c.3117T>C (p.Gly1039=) rs2147873100
NM_033380.3(COL4A5):c.3135A>G (p.Gly1045=) rs2147873129
NM_033380.3(COL4A5):c.3156A>G (p.Gln1052=)
NM_033380.3(COL4A5):c.3171A>T (p.Gly1057=)
NM_033380.3(COL4A5):c.3189C>A (p.Gly1063=) rs768698527
NM_033380.3(COL4A5):c.3189C>G (p.Gly1063=) rs768698527
NM_033380.3(COL4A5):c.3190G>A (p.Asp1064Asn)
NM_033380.3(COL4A5):c.321+11T>C
NM_033380.3(COL4A5):c.321+15A>G
NM_033380.3(COL4A5):c.321+16del
NM_033380.3(COL4A5):c.321+7A>G rs2147746332
NM_033380.3(COL4A5):c.3210T>A (p.Ile1070=) rs2147873390
NM_033380.3(COL4A5):c.322-11G>A
NM_033380.3(COL4A5):c.322-4A>C
NM_033380.3(COL4A5):c.3237T>G (p.Pro1079=) rs2147873486
NM_033380.3(COL4A5):c.3243A>G (p.Pro1081=)
NM_033380.3(COL4A5):c.3246+10G>A
NM_033380.3(COL4A5):c.3246+8T>C
NM_033380.3(COL4A5):c.3246+9T>C
NM_033380.3(COL4A5):c.3247-10G>T
NM_033380.3(COL4A5):c.3247-11C>T
NM_033380.3(COL4A5):c.3247-18T>C
NM_033380.3(COL4A5):c.3252G>A (p.Glu1084=) rs2147934994
NM_033380.3(COL4A5):c.3255T>C (p.Pro1085=)
NM_033380.3(COL4A5):c.3279C>T (p.Asn1093=)
NM_033380.3(COL4A5):c.3280C>A (p.Pro1094Thr) rs773912490
NM_033380.3(COL4A5):c.3285T>C (p.Gly1095=) rs2147935120
NM_033380.3(COL4A5):c.3290A>C (p.Lys1097Thr) rs1445341779
NM_033380.3(COL4A5):c.3306T>C (p.Asp1102=)
NM_033380.3(COL4A5):c.3315G>A (p.Leu1105=) rs1415696204
NM_033380.3(COL4A5):c.3327A>C (p.Pro1109=)
NM_033380.3(COL4A5):c.3336T>C (p.Pro1112=)
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
NM_033380.3(COL4A5):c.3411C>A (p.Gly1137=) rs2147952946
NM_033380.3(COL4A5):c.3423C>T (p.Asn1141=) rs771590073
NM_033380.3(COL4A5):c.3426C>G (p.Pro1142=)
NM_033380.3(COL4A5):c.342G>A (p.Gly114=)
NM_033380.3(COL4A5):c.3432T>A (p.Leu1144=)
NM_033380.3(COL4A5):c.3435A>G (p.Pro1145=) rs2068061138
NM_033380.3(COL4A5):c.3447T>C (p.Gly1149=)
NM_033380.3(COL4A5):c.3454+14A>G
NM_033380.3(COL4A5):c.3454+15T>G
NM_033380.3(COL4A5):c.3454+19A>T
NM_033380.3(COL4A5):c.3454+7A>C
NM_033380.3(COL4A5):c.3454+8T>C rs777110527
NM_033380.3(COL4A5):c.3455-15T>A
NM_033380.3(COL4A5):c.3455-16G>A
NM_033380.3(COL4A5):c.3492C>A (p.Gly1164=) rs967018326
NM_033380.3(COL4A5):c.3492C>T (p.Gly1164=)
NM_033380.3(COL4A5):c.3498A>G (p.Lys1166=)
NM_033380.3(COL4A5):c.34T>C (p.Leu12=)
NM_033380.3(COL4A5):c.3507C>G (p.Pro1169=)
NM_033380.3(COL4A5):c.3553+8A>C
NM_033380.3(COL4A5):c.3553+9G>A
NM_033380.3(COL4A5):c.3554-10A>C rs750630727
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
NM_033380.3(COL4A5):c.3604+10A>G
NM_033380.3(COL4A5):c.3604+13A>C
NM_033380.3(COL4A5):c.3604+13A>G
NM_033380.3(COL4A5):c.3604+16A>T
NM_033380.3(COL4A5):c.3604+17_3604+18insT
NM_033380.3(COL4A5):c.3604+18A>T
NM_033380.3(COL4A5):c.3604+20G>C
NM_033380.3(COL4A5):c.3604+6_3604+7insATG
NM_033380.3(COL4A5):c.3604+9T>A
NM_033380.3(COL4A5):c.3604+9T>G rs2147956574
NM_033380.3(COL4A5):c.3605-11T>C
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
NM_033380.3(COL4A5):c.3605-3T>C rs2147958955
NM_033380.3(COL4A5):c.3605-5C>T
NM_033380.3(COL4A5):c.3618T>C (p.Asp1206=) rs2147959025
NM_033380.3(COL4A5):c.3621A>G (p.Gly1207=) rs2147959037
NM_033380.3(COL4A5):c.3624A>C (p.Gly1208=)
NM_033380.3(COL4A5):c.3669C>A (p.Gly1223=)
NM_033380.3(COL4A5):c.3696T>C (p.Gly1232=)
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
NM_033380.3(COL4A5):c.3819T>A (p.Gly1273=) rs775815758
NM_033380.3(COL4A5):c.3837T>C (p.Gly1279=)
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
NM_033380.3(COL4A5):c.3942+18A>G
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=)
NM_033380.3(COL4A5):c.4994+8G>T
NM_033380.3(COL4A5):c.4994+9C>T rs2148002593
NM_033380.3(COL4A5):c.4994+9del
NM_033380.3(COL4A5):c.4995-16A>G
NM_033380.3(COL4A5):c.4995-16_4995-13del
NM_033380.3(COL4A5):c.4995-20T>A
NM_033380.3(COL4A5):c.4995-6T>G
NM_033380.3(COL4A5):c.5013G>C (p.Thr1671=)
NM_033380.3(COL4A5):c.501A>C (p.Pro167=)
NM_033380.3(COL4A5):c.501A>G (p.Pro167=)
NM_033380.3(COL4A5):c.5034G>A (p.Arg1678=)
NM_033380.3(COL4A5):c.5037A>C (p.Thr1679=)
NM_033380.3(COL4A5):c.5049A>T (p.Arg1683=)
NM_033380.3(COL4A5):c.5070G>A (p.Arg1690=) rs2148003816
NM_033380.3(COL4A5):c.5073A>G (p.Thr1691=)
NM_033380.3(COL4A5):c.5075A>G (p.Ter1692=) rs1035585044
NM_033380.3(COL4A5):c.51G>A (p.Leu17=)
NM_033380.3(COL4A5):c.51G>T (p.Leu17=) rs2064373024
NM_033380.3(COL4A5):c.546+18T>G
NM_033380.3(COL4A5):c.547-15C>T
NM_033380.3(COL4A5):c.550C>T (p.Leu184=)
NM_033380.3(COL4A5):c.552A>T (p.Leu184=) rs2147765059
NM_033380.3(COL4A5):c.570A>T (p.Ile190=) rs2147765149
NM_033380.3(COL4A5):c.591A>G (p.Pro197=)
NM_033380.3(COL4A5):c.609+875G>A
NM_033380.3(COL4A5):c.609+8C>A
NM_033380.3(COL4A5):c.610-13C>T
NM_033380.3(COL4A5):c.612C>T (p.Gly204=) rs2147770114
NM_033380.3(COL4A5):c.618T>C (p.Pro206=)
NM_033380.3(COL4A5):c.639A>G (p.Gly213=) rs2147770243
NM_033380.3(COL4A5):c.645+16T>C
NM_033380.3(COL4A5):c.645+19A>G
NM_033380.3(COL4A5):c.646-20A>G
NM_033380.3(COL4A5):c.646-4C>T rs2066182701
NM_033380.3(COL4A5):c.648G>C (p.Gly216=)
NM_033380.3(COL4A5):c.687+10G>A
NM_033380.3(COL4A5):c.687+13A>G
NM_033380.3(COL4A5):c.687+19del
NM_033380.3(COL4A5):c.688-7C>G rs2066187629
NM_033380.3(COL4A5):c.688-8G>A rs2066187570
NM_033380.3(COL4A5):c.730A>T (p.Ile244Phe)
NM_033380.3(COL4A5):c.741G>A (p.Gln247=)
NM_033380.3(COL4A5):c.757G>A (p.Val253Ile)
NM_033380.3(COL4A5):c.76G>A (p.Ala26Thr) rs1276860807
NM_033380.3(COL4A5):c.780+10T>G rs2147771581
NM_033380.3(COL4A5):c.780+19A>T
NM_033380.3(COL4A5):c.781-14C>A
NM_033380.3(COL4A5):c.781-17C>T
NM_033380.3(COL4A5):c.781-4A>G
NM_033380.3(COL4A5):c.781-6G>A
NM_033380.3(COL4A5):c.797G>A (p.Arg266Gln)
NM_033380.3(COL4A5):c.81+11C>A
NM_033380.3(COL4A5):c.81+20C>T
NM_033380.3(COL4A5):c.81+75del rs59044748
NM_033380.3(COL4A5):c.816A>G (p.Pro272=)
NM_033380.3(COL4A5):c.819G>T (p.Gly273=)
NM_033380.3(COL4A5):c.82-11C>T
NM_033380.3(COL4A5):c.82-13C>T
NM_033380.3(COL4A5):c.82-15_82-14del
NM_033380.3(COL4A5):c.82-16T>C
NM_033380.3(COL4A5):c.824G>A (p.Arg275His)
NM_033380.3(COL4A5):c.835-5T>G
NM_033380.3(COL4A5):c.835-8G>T
NM_033380.3(COL4A5):c.840C>T (p.Pro280=)
NM_033380.3(COL4A5):c.846T>G (p.Gly282=)
NM_033380.3(COL4A5):c.858T>G (p.Gly286=) rs183837448
NM_033380.3(COL4A5):c.867T>A (p.Gly289=)
NM_033380.3(COL4A5):c.882A>G (p.Pro294=)
NM_033380.3(COL4A5):c.891+13A>G
NM_033380.3(COL4A5):c.891+20A>G
NM_033380.3(COL4A5):c.891+7G>C rs769589691
NM_033380.3(COL4A5):c.891+8_891+16del rs2147776823
NM_033380.3(COL4A5):c.892-10T>A
NM_033380.3(COL4A5):c.892-10T>C
NM_033380.3(COL4A5):c.892-12T>C
NM_033380.3(COL4A5):c.892-16T>A
NM_033380.3(COL4A5):c.892-4A>C rs777914438
NM_033380.3(COL4A5):c.892-9A>G
NM_033380.3(COL4A5):c.907G>C (p.Asp303His)
NM_033380.3(COL4A5):c.925C>T (p.Pro309Ser)
NM_033380.3(COL4A5):c.927A>G (p.Pro309=)
NM_033380.3(COL4A5):c.936+12A>C
NM_033380.3(COL4A5):c.937-170dup rs34190918
NM_033380.3(COL4A5):c.937-18A>G
NM_033380.3(COL4A5):c.937-4A>G rs2147780997
NM_033380.3(COL4A5):c.93G>T (p.Gly31=)
NM_033380.3(COL4A5):c.972C>T (p.Pro324=)
NM_033380.3(COL4A5):c.981T>A (p.Asp327Glu)
NM_033380.3(COL4A5):c.990+13A>G
NM_033380.3(COL4A5):c.991-10C>T
NM_033380.3(COL4A5):c.991-12T>C
NM_033380.3(COL4A5):c.991-17A>G
NM_033380.3(COL4A5):c.991-9A>T
NM_033380.3(COL4A5):c.996A>G (p.Gln332=) rs2147784301

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