ClinVar Miner

List of variants in gene COL4A5 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1962
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HGVS dbSNP gnomAD frequency
NM_033380.3(COL4A5):c.1165+298C>A rs28549139 0.38799
NM_033380.3(COL4A5):c.2041+65A>G rs28497884 0.23888
NM_033380.3(COL4A5):c.1033-72C>T rs2272944 0.23733
NM_033380.3(COL4A5):c.609+21T>C rs6622333 0.18370
NM_033380.3(COL4A5):c.3513A>G (p.Gln1171=) rs2273051 0.14310
NM_033380.3(COL4A5):c.3553+42T>C rs28465565 0.14237
NM_033380.3(COL4A5):c.2395+2886C>T rs60033988 0.11153
NM_033380.3(COL4A5):c.3107-100G>A rs3761615 0.11106
NM_033380.3(COL4A5):c.2509+145T>A rs2064379 0.11102
NM_033380.3(COL4A5):c.3016+176T>C rs28521478 0.11079
NM_033380.3(COL4A5):c.991-196C>T rs61336862 0.11076
NM_033380.3(COL4A5):c.2918-168G>A rs28548454 0.11073
NM_033380.3(COL4A5):c.2349G>A (p.Pro783=) rs3747408 0.11046
NM_033380.3(COL4A5):c.1331T>G (p.Ile444Ser) rs2272946 0.11020
NM_033380.3(COL4A5):c.2395+3072A>G rs56760052 0.11015
NM_033380.3(COL4A5):c.610-229C>T rs28452853 0.10975
NM_033380.3(COL4A5):c.2055T>C (p.Leu685=) rs7884085 0.10905
NM_033380.3(COL4A5):c.81+128T>C rs3747407 0.10674
NM_033380.3(COL4A5):c.1780-247G>A rs2272947 0.10306
NM_033380.3(COL4A5):c.1095G>C (p.Gly365=) rs2272945 0.10302
NM_033380.3(COL4A5):c.4293C>T (p.Asp1431=) rs61746140 0.10149
NM_033380.3(COL4A5):c.610-305T>A rs28410216 0.09880
NM_033380.3(COL4A5):c.2768-11A>G rs1006269 0.09324
NM_033380.3(COL4A5):c.82-212C>T rs16985514 0.07983
NM_033380.3(COL4A5):c.2245-144C>T rs73528321 0.07932
NM_033380.3(COL4A5):c.3808+24C>T rs866695892 0.05325
NM_033380.3(COL4A5):c.3519T>G (p.Gly1173=) rs61735627 0.03239
NM_033380.3(COL4A5):c.3374-274T>C rs113655816 0.03234
NM_033380.3(COL4A5):c.4529-2383T>C rs57661241 0.01754
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.4500A>G (p.Gly1500=) rs145378707 0.00920
NM_033380.3(COL4A5):c.3790+126C>G rs185018794 0.00749
NM_033380.3(COL4A5):c.1992G>T (p.Lys664Asn) rs34077552 0.00745
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.1289C>A (p.Ala430Asp) rs142883891 0.00418
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.3373+36T>C rs112145659 0.00209
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.909T>C (p.Asp303=) rs144586397 0.00122
NM_033380.3(COL4A5):c.2858G>T (p.Gly953Val) rs78972735 0.00119
NM_033380.3(COL4A5):c.4822-47A>G rs112292893 0.00119
NM_033380.3(COL4A5):c.580A>G (p.Ile194Val) rs145970300 0.00099
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.834+8C>A rs201717817 0.00066
NM_033380.3(COL4A5):c.3799+18A>G rs201371556 0.00065
NM_033380.3(COL4A5):c.2147-12A>G rs749368555 0.00061
NM_033380.3(COL4A5):c.1187C>T (p.Pro396Leu) rs113013606 0.00047
NM_033380.3(COL4A5):c.1588-13T>G rs201708502 0.00047
NM_033380.3(COL4A5):c.2768-10T>C rs370284884 0.00038
NM_033380.3(COL4A5):c.2216C>A (p.Pro739His) rs201123438 0.00037
NM_033380.3(COL4A5):c.2215C>G (p.Pro739Ala) rs104886164 0.00034
NM_033380.3(COL4A5):c.3312T>C (p.Gly1104=) rs140829723 0.00032
NM_033380.3(COL4A5):c.688-11C>T rs201020166 0.00032
NM_033380.3(COL4A5):c.4353A>T (p.Gly1451=) rs146884759 0.00028
NM_033380.3(COL4A5):c.2244+9C>T rs759349551 0.00027
NM_033380.3(COL4A5):c.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.2917+18T>C rs376067886 0.00023
NM_033380.3(COL4A5):c.2400T>C (p.Asp800=) rs372505008 0.00021
NM_033380.3(COL4A5):c.3296C>T (p.Ser1099Phe) rs767087695 0.00021
NM_033380.3(COL4A5):c.4015+5T>C rs190856675 0.00020
NM_033380.3(COL4A5):c.1979C>T (p.Thr660Ile) rs780612276 0.00019
NM_033380.3(COL4A5):c.3426C>T (p.Pro1142=) rs780896516 0.00019
NM_033380.3(COL4A5):c.3374-11C>A rs104886387 0.00018
NM_033380.3(COL4A5):c.1035A>C (p.Val345=) rs780982202 0.00017
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.3029A>G (p.Asn1010Ser) rs151077921 0.00015
NM_033380.3(COL4A5):c.3107-11A>T rs190579028 0.00015
NM_033380.3(COL4A5):c.880C>T (p.Pro294Ser) rs374201703 0.00015
NM_033380.3(COL4A5):c.1684G>A (p.Glu562Lys) rs149228661 0.00014
NM_033380.3(COL4A5):c.3943-17T>G rs200247683 0.00014
NM_033380.3(COL4A5):c.4117C>A (p.Gln1373Lys) rs147447379 0.00014
NM_033380.3(COL4A5):c.4476C>T (p.Gly1492=) rs778743553 0.00014
NM_033380.3(COL4A5):c.4567C>A (p.Pro1523Thr) rs201220208 0.00014
NM_033380.3(COL4A5):c.858T>C (p.Gly286=) rs183837448 0.00014
NM_033380.3(COL4A5):c.1032+11T>A rs202140357 0.00013
NM_033380.3(COL4A5):c.2529A>G (p.Gly843=) rs765515477 0.00013
NM_033380.3(COL4A5):c.3251A>C (p.Glu1084Ala) rs146873772 0.00013
NM_033380.3(COL4A5):c.3958C>T (p.Pro1320Ser) rs754836509 0.00013
NM_033380.3(COL4A5):c.2571A>G (p.Gly857=) rs41311553 0.00012
NM_033380.3(COL4A5):c.319C>T (p.Pro107Ser) rs182634806 0.00012
NM_033380.3(COL4A5):c.3736G>T (p.Ala1246Ser) rs372236348 0.00012
NM_033380.3(COL4A5):c.4315+9A>T rs764116323 0.00012
NM_033380.3(COL4A5):c.488T>C (p.Met163Thr) rs142503631 0.00012
NM_033380.3(COL4A5):c.3809-6A>G rs776750939 0.00011
NM_033380.3(COL4A5):c.4072C>A (p.Leu1358Ile) rs143020337 0.00011
NM_033380.3(COL4A5):c.5012C>T (p.Thr1671Met) rs745360151 0.00011
NM_033380.3(COL4A5):c.1698T>C (p.Pro566=) rs143442986 0.00010
NM_033380.3(COL4A5):c.391C>T (p.Arg131Cys) rs775981205 0.00010
NM_033380.3(COL4A5):c.4087+6A>T rs748429212 0.00010
NM_033380.3(COL4A5):c.4217-6C>T rs764326196 0.00010
NM_033380.3(COL4A5):c.568A>G (p.Ile190Val) rs367890539 0.00010
NM_033380.3(COL4A5):c.861G>A (p.Glu287=) rs41300173 0.00010
NM_033380.3(COL4A5):c.899C>T (p.Pro300Leu) rs375377003 0.00010
NM_033380.3(COL4A5):c.4075A>G (p.Ile1359Val) rs748850424 0.00009
NM_033380.3(COL4A5):c.4741G>T (p.Ala1581Ser) rs151130451 0.00009
NM_033380.3(COL4A5):c.1768A>G (p.Lys590Glu) rs368137679 0.00008
NM_033380.3(COL4A5):c.1876G>A (p.Gly626Ser) rs747821323 0.00008
NM_033380.3(COL4A5):c.2286A>G (p.Pro762=) rs369726425 0.00008
NM_033380.3(COL4A5):c.2572C>A (p.Pro858Thr) rs147220200 0.00008
NM_033380.3(COL4A5):c.3957G>T (p.Arg1319=) rs758920904 0.00008
NM_033380.3(COL4A5):c.4216+10C>T rs759735924 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.1350A>G (p.Ile450Met) rs201481496 0.00007
NM_033380.3(COL4A5):c.1497A>G (p.Pro499=) rs772348542 0.00007
NM_033380.3(COL4A5):c.1813C>A (p.Pro605Thr) rs781016371 0.00007
NM_033380.3(COL4A5):c.309A>C (p.Thr103=) rs373454111 0.00007
NM_033380.3(COL4A5):c.3247-10G>A rs369817184 0.00007
NM_033380.3(COL4A5):c.3403A>G (p.Ile1135Val) rs747614562 0.00007
NM_033380.3(COL4A5):c.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.1586C>A (p.Pro529Gln) rs758983710 0.00006
NM_033380.3(COL4A5):c.3001T>C (p.Leu1001=) rs148525914 0.00006
NM_033380.3(COL4A5):c.3468T>C (p.His1156=) rs769984503 0.00006
NM_033380.3(COL4A5):c.3923A>G (p.Gln1308Arg) rs104886399 0.00006
NM_033380.3(COL4A5):c.4668A>G (p.Gln1556=) rs767410335 0.00006
NM_033380.3(COL4A5):c.4898C>T (p.Ala1633Val) rs982188184 0.00006
NM_033380.3(COL4A5):c.4994+12A>G rs767909575 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.1584A>G (p.Leu528=) rs370355907 0.00005
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 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.262C>T (p.Pro88Ser) rs773883586 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.3728C>T (p.Pro1243Leu) rs751503027 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.4414C>T (p.Arg1472Cys) rs746184634 0.00005
NM_033380.3(COL4A5):c.4550G>A (p.Arg1517His) rs104886285 0.00005
NM_033380.3(COL4A5):c.4862C>T (p.Ala1621Val) rs572921687 0.00005
NM_033380.3(COL4A5):c.823C>T (p.Arg275Cys) rs376031029 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.2363G>A (p.Arg788His) rs763882494 0.00004
NM_033380.3(COL4A5):c.271A>G (p.Ile91Val) rs919113147 0.00004
NM_033380.3(COL4A5):c.3232C>T (p.Leu1078Phe) rs763614519 0.00004
NM_033380.3(COL4A5):c.3247-20C>G rs375420079 0.00004
NM_033380.3(COL4A5):c.3955C>T (p.Arg1319Trp) rs138903372 0.00004
NM_033380.3(COL4A5):c.3993C>T (p.Leu1331=) rs751858178 0.00004
NM_033380.3(COL4A5):c.4003C>T (p.Pro1335Ser) rs757653472 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.4643C>T (p.Pro1548Leu) rs771101410 0.00004
NM_033380.3(COL4A5):c.781-253A>G rs1227389872 0.00004
NM_033380.3(COL4A5):c.796C>G (p.Arg266Gly) rs104886071 0.00004
NM_033380.3(COL4A5):c.1165+7G>A rs968742014 0.00003
NM_033380.3(COL4A5):c.1339+10A>G rs747003888 0.00003
NM_033380.3(COL4A5):c.1469C>T (p.Ser490Leu) rs764543034 0.00003
NM_033380.3(COL4A5):c.1827T>A (p.Gly609=) rs756142410 0.00003
NM_033380.3(COL4A5):c.1909C>A (p.Gln637Lys) rs368347660 0.00003
NM_033380.3(COL4A5):c.2080A>G (p.Ile694Val) rs141392937 0.00003
NM_033380.3(COL4A5):c.2371T>G (p.Leu791Val) rs973951246 0.00003
NM_033380.3(COL4A5):c.2520A>G (p.Gly840=) rs372853807 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.2797C>T (p.Leu933Phe) rs191497639 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.2998G>A (p.Gly1000Arg) rs2067110688 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.3580C>A (p.Pro1194Thr) rs778718184 0.00003
NM_033380.3(COL4A5):c.3605-18T>A rs1360798420 0.00003
NM_033380.3(COL4A5):c.3669C>T (p.Gly1223=) rs765001018 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.4125C>T (p.Ile1375=) rs139309774 0.00003
NM_033380.3(COL4A5):c.4175T>C (p.Leu1392Pro) rs754420396 0.00003
NM_033380.3(COL4A5):c.4485C>A (p.Leu1495=) rs765058131 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.4977T>A (p.Asp1659Glu) rs752044936 0.00003
NM_033380.3(COL4A5):c.63G>A (p.Gly21=) rs759402395 0.00003
NM_033380.3(COL4A5):c.829C>T (p.Pro277Ser) rs755102850 0.00003
NM_033380.3(COL4A5):c.892-4A>G rs777914438 0.00003
NM_033380.3(COL4A5):c.993C>A (p.Gly331=) rs777477617 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.1296G>C (p.Gly432=) rs755291471 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.1810C>A (p.Pro604Thr) rs183934559 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.231+2T>C rs763538451 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.3605-8T>G rs767540874 0.00002
NM_033380.3(COL4A5):c.3605-9C>T rs761899179 0.00002
NM_033380.3(COL4A5):c.366C>T (p.Pro122=) rs778778154 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.4016-16T>G rs775007873 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.4316-10G>A rs778775294 0.00002
NM_033380.3(COL4A5):c.4401A>T (p.Gly1467=) rs1169821288 0.00002
NM_033380.3(COL4A5):c.4443A>G (p.Gln1481=) rs371136889 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.5004G>A (p.Gln1668=) rs770835001 0.00002
NM_033380.3(COL4A5):c.5013G>A (p.Thr1671=) rs962102528 0.00002
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln) rs104886308 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.677A>C (p.Lys226Thr) rs991159149 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.1276G>A (p.Gly426Arg) rs104886111 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.1340-1G>A rs753437190 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.164T>G (p.Leu55Trp) rs779142914 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.213G>A (p.Pro71=) rs764172210 0.00001
NM_033380.3(COL4A5):c.2206G>C (p.Glu736Gln) rs1603292436 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.2227G>A (p.Gly743Ser) rs749817240 0.00001
NM_033380.3(COL4A5):c.2277T>G (p.Pro759=) rs1415670653 0.00001
NM_033380.3(COL4A5):c.2290C>T (p.Leu764Phe) rs2066735216 0.00001
NM_033380.3(COL4A5):c.2298T>A (p.Gly766=) rs750106548 0.00001
NM_033380.3(COL4A5):c.231+1G>A rs104886349 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.2466A>G (p.Gly822=) rs375746429 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.2509+16A>G rs1365839951 0.00001
NM_033380.3(COL4A5):c.2510-2A>G rs760109866 0.00001
NM_033380.3(COL4A5):c.2516A>G (p.His839Arg) rs1272041306 0.00001
NM_033380.3(COL4A5):c.2539G>A (p.Asp847Asn) rs1244012104 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.314G>C (p.Gly105Ala) rs1569488381 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.3268T>C (p.Tyr1090His) rs200042343 0.00001
NM_033380.3(COL4A5):c.336C>T (p.His112=) rs751706926 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.3508G>A (p.Gly1170Ser) rs104886237 0.00001
NM_033380.3(COL4A5):c.3582C>T (p.Pro1194=) rs104886243 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.361A>G (p.Ile121Val) rs377222743 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.3878C>T (p.Pro1293Leu) rs1397121500 0.00001
NM_033380.3(COL4A5):c.3899G>C (p.Gly1300Ala) rs1252928330 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.4028C>T (p.Pro1343Leu) rs751238471 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.412G>A (p.Gly138Ser) rs767619131 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.4267G>A (p.Asp1423Asn) rs374994365 0.00001
NM_033380.3(COL4A5):c.4281G>A (p.Gly1427=) rs918084506 0.00001
NM_033380.3(COL4A5):c.4315+1G>A rs587776403 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.4693C>G (p.Pro1565Ala) rs104886295 0.00001
NM_033380.3(COL4A5):c.4726C>G (p.Pro1576Ala) rs747041833 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.4891C>T (p.Arg1631Cys) rs865842167 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.4937A>G (p.Tyr1646Cys) rs937985430 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.779A>G (p.Gln260Arg) rs372889859 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.90T>C (p.Tyr30=) rs104886047 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
GRCh37/hg19 Xq22.3(chrX:107778107-107900493)x3
NC_000023.10:g.(?_107782956)_(107821633_?)del
NC_000023.10:g.(?_107782956)_(107852872_?)dup
NC_000023.10:g.(?_107782956)_(107898707_?)dup
NC_000023.10:g.(?_107782958)_(107814422_?)del
NC_000023.10:g.(?_107782966)_(107812061_?)del
NC_000023.10:g.(?_107782976)_(107858254_?)del
NC_000023.10:g.(?_107802274)_(107933678_?)del
NC_000023.10:g.(?_107802294)_(107807156_?)del
NC_000023.10:g.(?_107807092)_(107898707_?)del
NC_000023.10:g.(?_107807112)_(107807156_?)del
NC_000023.10:g.(?_107811839)_(107812071_?)del
NC_000023.10:g.(?_107817240)_(107821596_?)del
NC_000023.10:g.(?_107819120)_(107820077_?)del
NC_000023.10:g.(?_107819120)_(107827775_?)del
NC_000023.10:g.(?_107819140)_(107819202_?)del
NC_000023.10:g.(?_107821172)_(107821623_?)del
NC_000023.10:g.(?_107823743)_(107925138_?)dup
NC_000023.10:g.(?_107826094)_(107826187_?)del
NC_000023.10:g.(?_107834471)_(107835925_?)del
NC_000023.10:g.(?_107838719)_(107838851_?)del
NC_000023.10:g.(?_107838739)_(107840798_?)del
NC_000023.10:g.(?_107840208)_(107898707_?)del
NC_000023.10:g.(?_107841912)_(107845239_?)del
NC_000023.10:g.(?_107849932)_(107858274_?)del
NC_000023.10:g.(?_107867446)_(107869599_?)del
NC_000023.10:g.(?_107868915)_(107869044_?)del
NC_000023.10:g.(?_107868915)_(107869599_?)del
NC_000023.10:g.(?_107898541)_(107911754_?)del
NC_000023.10:g.(?_107908717)_(107911754_?)del
NC_000023.10:g.(?_107913448)_(107939618_?)del
NC_000023.10:g.(?_107920710)_(107930944_?)del
NC_000023.10:g.(?_107929241)_(107930944_?)del
NC_000023.10:g.(?_107930692)_(107930944_?)dup
NC_000023.11:g.(?_108440116)_(108696388_?)del
NC_000023.11:g.(?_108575910)_(108597568_?)dup
NC_000023.11:g.108687484_108687501dup
NM_033380.3(COL4A5):c.*51A>T
NM_033380.3(COL4A5):c.-25_-8dup rs752443408
NM_033380.3(COL4A5):c.1001G>A (p.Gly334Asp) rs104886093
NM_033380.3(COL4A5):c.1001G>T (p.Gly334Val) rs104886093
NM_033380.3(COL4A5):c.1005C>T (p.Asp335=) rs1569491741
NM_033380.3(COL4A5):c.1006_1007insAACA (p.Thr336fs)
NM_033380.3(COL4A5):c.1008T>G (p.Thr336=)
NM_033380.3(COL4A5):c.1022_1030del (p.338PPG[1]) rs2147784405
NM_033380.3(COL4A5):c.1026T>C (p.Pro342=) rs2147784444
NM_033380.3(COL4A5):c.102A>G (p.Pro34=)
NM_033380.3(COL4A5):c.1031_1032+2del rs2066302717
NM_033380.3(COL4A5):c.1032+17T>C
NM_033380.3(COL4A5):c.1032+17del rs761615270
NM_033380.3(COL4A5):c.1032+17dup rs761615270
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.1032+1G>C rs1569491753
NM_033380.3(COL4A5):c.1032+3_1032+6del rs104886314
NM_033380.3(COL4A5):c.1032+5G>T rs104886315
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.1033-1_1033insAAATTCCCAG rs2147787972
NM_033380.3(COL4A5):c.1033-2A>G rs2147787964
NM_033380.3(COL4A5):c.1033-3A>G rs2066339277
NM_033380.3(COL4A5):c.1033-6A>G rs869025330
NM_033380.3(COL4A5):c.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.1063A>G (p.Ile355Val)
NM_033380.3(COL4A5):c.1069G>A (p.Glu357Lys) rs1186225656
NM_033380.3(COL4A5):c.1075G>C (p.Gly359Arg)
NM_033380.3(COL4A5):c.1084G>A (p.Gly362Arg) rs281874656
NM_033380.3(COL4A5):c.1086G>A (p.Gly362=) rs773438026
NM_033380.3(COL4A5):c.1086G>T (p.Gly362=) rs773438026
NM_033380.3(COL4A5):c.1086GTTGCCTGG[1] (p.363LPG[1]) rs765552839
NM_033380.3(COL4A5):c.1092T>C (p.Pro364=) rs1484901023
NM_033380.3(COL4A5):c.1093G>A (p.Gly365Arg) rs2147788229
NM_033380.3(COL4A5):c.1095G>T (p.Gly365=)
NM_033380.3(COL4A5):c.1099C>T (p.Pro367Ser)
NM_033380.3(COL4A5):c.1103G>A (p.Gly368Glu) rs752609517
NM_033380.3(COL4A5):c.1111G>A (p.Gly371Arg) rs878853015
NM_033380.3(COL4A5):c.1111G>C (p.Gly371Arg) rs878853015
NM_033380.3(COL4A5):c.1111G>T (p.Gly371Ter) rs878853015
NM_033380.3(COL4A5):c.1117C>A (p.Arg373=)
NM_033380.3(COL4A5):c.1117C>T (p.Arg373Ter) rs104886094
NM_033380.3(COL4A5):c.1120G>A (p.Gly374Arg) rs2066342176
NM_033380.3(COL4A5):c.1121G>C (p.Gly374Ala) rs104886108
NM_033380.3(COL4A5):c.1138G>C (p.Gly380Arg) rs2066342908
NM_033380.3(COL4A5):c.1139del (p.Gly380fs) rs2147788399
NM_033380.3(COL4A5):c.113G>T (p.Cys38Phe)
NM_033380.3(COL4A5):c.1147G>C (p.Gly383Arg) rs1569492161
NM_033380.3(COL4A5):c.1155T>G (p.Pro385=) rs2147788468
NM_033380.3(COL4A5):c.1164A>T (p.Pro388=)
NM_033380.3(COL4A5):c.1165+14C>T
NM_033380.3(COL4A5):c.1165+15A>G
NM_033380.3(COL4A5):c.1165+241del rs202217066
NM_033380.3(COL4A5):c.1166-16C>T
NM_033380.3(COL4A5):c.1166-19T>G
NM_033380.3(COL4A5):c.1177_1178dup (p.Met393fs) rs1603287481
NM_033380.3(COL4A5):c.1181del (p.Gly394fs) rs281874658
NM_033380.3(COL4A5):c.1183C>T (p.Pro395Ser) rs2147796628
NM_033380.3(COL4A5):c.1184C>T (p.Pro395Leu)
NM_033380.3(COL4A5):c.1190G>A (p.Gly397Asp)
NM_033380.3(COL4A5):c.1190G>T (p.Gly397Val) rs2147796671
NM_033380.3(COL4A5):c.1208G>A (p.Gly403Glu)
NM_033380.3(COL4A5):c.1217G>A (p.Gly406Asp) rs104886100
NM_033380.3(COL4A5):c.1217G>T (p.Gly406Val) rs104886100
NM_033380.3(COL4A5):c.1221G>A (p.Gln407=)
NM_033380.3(COL4A5):c.1226G>A (p.Gly409Asp) rs104886101
NM_033380.3(COL4A5):c.1226G>T (p.Gly409Val) rs104886101
NM_033380.3(COL4A5):c.1230T>C (p.Asp410=)
NM_033380.3(COL4A5):c.1234G>A (p.Gly412Arg) rs2066425897
NM_033380.3(COL4A5):c.1235G>A (p.Gly412Glu) rs104886102
NM_033380.3(COL4A5):c.1249_1272dup (p.Ser417_Leu424dup) rs2066426356
NM_033380.3(COL4A5):c.1254T>C (p.Ile418=) rs2147796892
NM_033380.3(COL4A5):c.1257T>G (p.Pro419=)
NM_033380.3(COL4A5):c.1258G>A (p.Gly420Arg) rs1556410266
NM_033380.3(COL4A5):c.1259G>T (p.Gly420Val) rs281874663
NM_033380.3(COL4A5):c.1267G>T (p.Gly423Ter)
NM_033380.3(COL4A5):c.1276G>T (p.Gly426Ter) rs104886111
NM_033380.3(COL4A5):c.1278A>T (p.Gly426=)
NM_033380.3(COL4A5):c.1286G>A (p.Gly429Glu) rs104886112
NM_033380.3(COL4A5):c.1288G>A (p.Ala430Thr)
NM_033380.3(COL4A5):c.1289C>T (p.Ala430Val) rs142883891
NM_033380.3(COL4A5):c.1293T>C (p.Pro431=) rs772323190
NM_033380.3(COL4A5):c.1293del (p.Leu433fs)
NM_033380.3(COL4A5):c.1294G>A (p.Gly432Arg) rs281874664
NM_033380.3(COL4A5):c.1294G>C (p.Gly432Arg)
NM_033380.3(COL4A5):c.1304G>A (p.Gly435Glu)
NM_033380.3(COL4A5):c.1304_1305delinsTT (p.Gly435Val) rs2147797124
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.1339+1G>A rs878853114
NM_033380.3(COL4A5):c.1339+2T>A
NM_033380.3(COL4A5):c.1339+3A>C
NM_033380.3(COL4A5):c.133G>A (p.Gly45Arg)
NM_033380.3(COL4A5):c.1340-11A>G
NM_033380.3(COL4A5):c.1340-5C>T
NM_033380.3(COL4A5):c.134G>A (p.Gly45Glu)
NM_033380.3(COL4A5):c.1365T>A (p.Pro455=) rs1483658224
NM_033380.3(COL4A5):c.1367C>T (p.Pro456Leu)
NM_033380.3(COL4A5):c.1369G>A (p.Gly457Ser) rs2147798001
NM_033380.3(COL4A5):c.136G>A (p.Glu46Lys)
NM_033380.3(COL4A5):c.136G>T (p.Glu46Ter) rs762399773
NM_033380.3(COL4A5):c.1370G>A (p.Gly457Asp) rs2147798012
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.1376dup (p.Gly460fs) rs104886113
NM_033380.3(COL4A5):c.1377_1378delinsGA (p.Gly460Arg)
NM_033380.3(COL4A5):c.1377del (p.Gly460fs)
NM_033380.3(COL4A5):c.1378G>C (p.Gly460Arg) rs2066435557
NM_033380.3(COL4A5):c.1380A>T (p.Gly460=)
NM_033380.3(COL4A5):c.138A>G (p.Glu46=)
NM_033380.3(COL4A5):c.1396G>T (p.Gly466Ter) rs2147798143
NM_033380.3(COL4A5):c.141+2T>C rs2147657763
NM_033380.3(COL4A5):c.141+7T>A
NM_033380.3(COL4A5):c.1411C>T (p.Gln471Ter) rs2147798207
NM_033380.3(COL4A5):c.1414G>A (p.Gly472Arg) rs104886116
NM_033380.3(COL4A5):c.1419G>T (p.Val473=) rs2147798235
NM_033380.3(COL4A5):c.141G>T (p.Lys47Asn)
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.1423+1G>A rs104886312
NM_033380.3(COL4A5):c.1423+1G>T rs104886312
NM_033380.3(COL4A5):c.1423G>A (p.Gly475Ser) rs281874667
NM_033380.3(COL4A5):c.1424-10A>T
NM_033380.3(COL4A5):c.1424-20T>A rs281874668
NM_033380.3(COL4A5):c.1424-2A>G rs759179999
NM_033380.3(COL4A5):c.1424-3T>G
NM_033380.3(COL4A5):c.1427A>G (p.Asp476Gly)
NM_033380.3(COL4A5):c.1432G>T (p.Gly478Cys) rs764743086
NM_033380.3(COL4A5):c.1449C>T (p.Asn483=) rs2147805867
NM_033380.3(COL4A5):c.144A>G (p.Gly48=)
NM_033380.3(COL4A5):c.146A>G (p.Glu49Gly) rs1569486475
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.147G>T (p.Glu49Asp) rs2147722129
NM_033380.3(COL4A5):c.148A>C (p.Arg50=)
NM_033380.3(COL4A5):c.1490G>A (p.Gly497Asp) rs2147806122
NM_033380.3(COL4A5):c.1499G>T (p.Gly500Val) rs1569493670
NM_033380.3(COL4A5):c.1502T>G (p.Leu501Arg)
NM_033380.3(COL4A5):c.1503C>G (p.Leu501=)
NM_033380.3(COL4A5):c.1508G>T (p.Gly503Val) rs1569493679
NM_033380.3(COL4A5):c.1509T>A (p.Gly503=) rs2147806200
NM_033380.3(COL4A5):c.1509T>C (p.Gly503=)
NM_033380.3(COL4A5):c.150_151del (p.Gly51fs)
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.1517-18T>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.1517-1G>A rs104886332
NM_033380.3(COL4A5):c.1517-1G>C rs104886332
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.1517-9G>A
NM_033380.3(COL4A5):c.151G>A (p.Gly51Arg) rs2147722151
NM_033380.3(COL4A5):c.1520C>A (p.Ser507Tyr) rs1114167369
NM_033380.3(COL4A5):c.1525G>C (p.Gly509Arg) rs754223700
NM_033380.3(COL4A5):c.1525G>T (p.Gly509Cys) rs754223700
NM_033380.3(COL4A5):c.1530C>T (p.Phe510=) rs2147809019
NM_033380.3(COL4A5):c.153del (p.Pro53fs) rs2147722166
NM_033380.3(COL4A5):c.1543G>A (p.Gly515Arg) rs2147809070
NM_033380.3(COL4A5):c.1543G>C (p.Gly515Arg) rs2147809070
NM_033380.3(COL4A5):c.1548A>G (p.Glu516=)
NM_033380.3(COL4A5):c.1549A>T (p.Lys517Ter) rs2147809122
NM_033380.3(COL4A5):c.1562G>A (p.Gly521Asp) rs104886122
NM_033380.3(COL4A5):c.1569T>C (p.Thr523=)
NM_033380.3(COL4A5):c.156T>C (p.Phe52=)
NM_033380.3(COL4A5):c.1570G>T (p.Gly524Cys) rs1170254952
NM_033380.3(COL4A5):c.1571G>A (p.Gly524Asp) rs104886119
NM_033380.3(COL4A5):c.1585C>T (p.Pro529Ser)
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+19A>T
NM_033380.3(COL4A5):c.1587+1G>A rs104886313
NM_033380.3(COL4A5):c.1587+1G>C
NM_033380.3(COL4A5):c.1587+5G>A rs2147809251
NM_033380.3(COL4A5):c.1587+7T>G
NM_033380.3(COL4A5):c.1587+8T>C rs769378322
NM_033380.3(COL4A5):c.1588-10C>G rs1603290097
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.1588-2A>T
NM_033380.3(COL4A5):c.1588-8C>G
NM_033380.3(COL4A5):c.1591_1599del (p.Ile531_Gly533del)
NM_033380.3(COL4A5):c.159A>G (p.Pro53=) rs1270497316
NM_033380.3(COL4A5):c.1606G>A (p.Gly536Ser)
NM_033380.3(COL4A5):c.1607G>A (p.Gly536Asp) rs104886125
NM_033380.3(COL4A5):c.160G>C (p.Gly54Arg)
NM_033380.3(COL4A5):c.1612C>T (p.Pro538Ser) rs2147810008
NM_033380.3(COL4A5):c.1617C>A (p.Gly539=) rs971966005
NM_033380.3(COL4A5):c.161G>T (p.Gly54Val) rs104886043
NM_033380.3(COL4A5):c.1620T>C (p.Phe540=) rs2147810042
NM_033380.3(COL4A5):c.1633G>A (p.Gly545Ser) rs104886126
NM_033380.3(COL4A5):c.1640C>T (p.Pro547Leu)
NM_033380.3(COL4A5):c.1643G>A (p.Gly548Asp) rs281874673
NM_033380.3(COL4A5):c.1643del (p.Gly548fs) rs2147810144
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.1660C>G (p.Pro554Ala) rs2147810221
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.1673G>A (p.Gly558Asp) rs1603290148
NM_033380.3(COL4A5):c.1673_1682del (p.Gly558fs)
NM_033380.3(COL4A5):c.1674T>A (p.Gly558=)
NM_033380.3(COL4A5):c.1679A>G (p.Lys560Arg)
NM_033380.3(COL4A5):c.1681G>A (p.Gly561Arg) rs104886136
NM_033380.3(COL4A5):c.1682G>A (p.Gly561Glu)
NM_033380.3(COL4A5):c.1686G>A (p.Glu562=)
NM_033380.3(COL4A5):c.1689G>A (p.Leu563=)
NM_033380.3(COL4A5):c.1690G>C (p.Gly564Arg) rs281874674
NM_033380.3(COL4A5):c.1690G>T (p.Gly564Cys) rs281874674
NM_033380.3(COL4A5):c.1692T>C (p.Gly564=) rs2147810324
NM_033380.3(COL4A5):c.1718G>A (p.Gly573Asp) rs104886138
NM_033380.3(COL4A5):c.1719T>C (p.Gly573=)
NM_033380.3(COL4A5):c.1722dup (p.Pro575fs)
NM_033380.3(COL4A5):c.1727G>A (p.Gly576Asp) rs2147810410
NM_033380.3(COL4A5):c.1728C>A (p.Gly576=)
NM_033380.3(COL4A5):c.172C>T (p.His58Tyr)
NM_033380.3(COL4A5):c.1735G>A (p.Gly579Arg) rs104886139
NM_033380.3(COL4A5):c.1738C>T (p.Gln580Ter) rs281874676
NM_033380.3(COL4A5):c.1752A>G (p.Pro584=)
NM_033380.3(COL4A5):c.1753G>A (p.Gly585Arg)
NM_033380.3(COL4A5):c.1755G>A (p.Gly585=) rs2147810492
NM_033380.3(COL4A5):c.1755G>T (p.Gly585=)
NM_033380.3(COL4A5):c.1762G>A (p.Gly588Ser)
NM_033380.3(COL4A5):c.1763G>A (p.Gly588Asp)
NM_033380.3(COL4A5):c.1766C>T (p.Pro589Leu) rs2066542878
NM_033380.3(COL4A5):c.1774G>C (p.Glu592Gln)
NM_033380.3(COL4A5):c.1777_1779+5del rs2147810566
NM_033380.3(COL4A5):c.1779+14A>G
NM_033380.3(COL4A5):c.1779+16A>G
NM_033380.3(COL4A5):c.1779+1G>A rs104886337
NM_033380.3(COL4A5):c.1780-16A>T
NM_033380.3(COL4A5):c.1780-1G>T rs104886338
NM_033380.3(COL4A5):c.1780-2A>G
NM_033380.3(COL4A5):c.1780-4T>G rs2147813189
NM_033380.3(COL4A5):c.1780-6T>G rs1569494262
NM_033380.3(COL4A5):c.178G>A (p.Gly60Arg)
NM_033380.3(COL4A5):c.1794T>C (p.Phe598=)
NM_033380.3(COL4A5):c.1797G>A (p.Lys599=)
NM_033380.3(COL4A5):c.1807G>T (p.Gly603Cys)
NM_033380.3(COL4A5):c.1808G>A (p.Gly603Asp) rs104886133
NM_033380.3(COL4A5):c.1808G>T (p.Gly603Val) rs104886133
NM_033380.3(COL4A5):c.1811C>T (p.Pro604Leu)
NM_033380.3(COL4A5):c.1815T>C (p.Pro605=)
NM_033380.3(COL4A5):c.1815del (p.Asn607fs) rs2066568818
NM_033380.3(COL4A5):c.1817G>T (p.Gly606Val)
NM_033380.3(COL4A5):c.1818G>A (p.Gly606=) rs2066568906
NM_033380.3(COL4A5):c.1818G>T (p.Gly606=)
NM_033380.3(COL4A5):c.1818_1871del (p.Asn607_Gly624del)
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.1834G>C (p.Gly612Arg)
NM_033380.3(COL4A5):c.1835G>A (p.Gly612Asp) rs281874680
NM_033380.3(COL4A5):c.1839C>T (p.Leu613=) rs2147813430
NM_033380.3(COL4A5):c.1843G>A (p.Gly615Arg) rs1569494304
NM_033380.3(COL4A5):c.1844G>A (p.Gly615Glu) rs794727397
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.1855C>T (p.Pro619Ser) rs1569494314
NM_033380.3(COL4A5):c.1856C>T (p.Pro619Leu) rs281874681
NM_033380.3(COL4A5):c.1861G>A (p.Gly621Ser) rs104886141
NM_033380.3(COL4A5):c.1862G>A (p.Gly621Asp) rs1569494322
NM_033380.3(COL4A5):c.1869del (p.Gly624fs) rs1085307808
NM_033380.3(COL4A5):c.1870G>C (p.Gly624Arg)
NM_033380.3(COL4A5):c.1871G>T (p.Gly624Val) rs104886142
NM_033380.3(COL4A5):c.1875C>T (p.Phe625=)
NM_033380.3(COL4A5):c.1877G>T (p.Gly626Val) rs104886143
NM_033380.3(COL4A5):c.1886G>A (p.Gly629Asp) rs104886144
NM_033380.3(COL4A5):c.1889C>T (p.Pro630Leu)
NM_033380.3(COL4A5):c.1890A>G (p.Pro630=) rs2147813686
NM_033380.3(COL4A5):c.1895G>A (p.Gly632Asp) rs104886145
NM_033380.3(COL4A5):c.1895G>T (p.Gly632Val)
NM_033380.3(COL4A5):c.1904G>A (p.Gly635Asp) rs281874683
NM_033380.3(COL4A5):c.1905C>T (p.Gly635=)
NM_033380.3(COL4A5):c.1919C>T (p.Ala640Val) rs2066572993
NM_033380.3(COL4A5):c.1922del (p.Gly641fs)
NM_033380.3(COL4A5):c.1925del (p.Asn642fs) rs2147813799
NM_033380.3(COL4A5):c.1931G>A (p.Gly644Asp) rs1569494386
NM_033380.3(COL4A5):c.1933C>A (p.Gln645Lys) rs1603290796
NM_033380.3(COL4A5):c.1933C>T (p.Gln645Ter) rs1603290796
NM_033380.3(COL4A5):c.1940G>A (p.Gly647Glu) rs2147813867
NM_033380.3(COL4A5):c.1940G>T (p.Gly647Val) rs2147813867
NM_033380.3(COL4A5):c.1948+11del
NM_033380.3(COL4A5):c.1948+13T>G
NM_033380.3(COL4A5):c.1948+15T>C rs2147813980
NM_033380.3(COL4A5):c.1948+168del rs200584982
NM_033380.3(COL4A5):c.1948+16T>C
NM_033380.3(COL4A5):c.1948+1G>C rs104886339
NM_033380.3(COL4A5):c.1948+216C>A rs143000039
NM_033380.3(COL4A5):c.1948+4A>C rs1311897513
NM_033380.3(COL4A5):c.1948+5G>A
NM_033380.3(COL4A5):c.1948+894C>T
NM_033380.3(COL4A5):c.1948+8T>A
NM_033380.3(COL4A5):c.1948G>A (p.Gly650Ser) rs1569494393
NM_033380.3(COL4A5):c.1949-9T>C rs2147819201
NM_033380.3(COL4A5):c.1949G>A (p.Gly650Asp) rs2066625021
NM_033380.3(COL4A5):c.1958G>C (p.Gly653Ala)
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.1972A>G (p.Thr658Ala)
NM_033380.3(COL4A5):c.1985C>T (p.Pro662Leu)
NM_033380.3(COL4A5):c.1986G>A (p.Pro662=)
NM_033380.3(COL4A5):c.1986_2003dup (p.Lys664_Gly669dup) rs2147819355
NM_033380.3(COL4A5):c.1989del (p.Lys664fs) rs2066626118
NM_033380.3(COL4A5):c.1990A>T (p.Lys664Ter)
NM_033380.3(COL4A5):c.1992G>A (p.Lys664=) rs34077552
NM_033380.3(COL4A5):c.1994del (p.Pro665fs)
NM_033380.3(COL4A5):c.1A>G (p.Met1Val) rs104886050
NM_033380.3(COL4A5):c.2002C>T (p.Pro668Ser) rs2147819433
NM_033380.3(COL4A5):c.2003C>T (p.Pro668Leu)
NM_033380.3(COL4A5):c.2004T>A (p.Pro668=) rs376003159
NM_033380.3(COL4A5):c.2005G>C (p.Gly669Arg) rs281874684
NM_033380.3(COL4A5):c.2006del (p.Gly669fs)
NM_033380.3(COL4A5):c.2007dup (p.Asn670Ter)
NM_033380.3(COL4A5):c.2010C>T (p.Asn670=)
NM_033380.3(COL4A5):c.2011C>A (p.Pro671Thr)
NM_033380.3(COL4A5):c.2015G>A (p.Gly672Asp)
NM_033380.3(COL4A5):c.2019A>T (p.Arg673Ser) rs1569494902
NM_033380.3(COL4A5):c.2023G>A (p.Gly675Ser) rs104886157
NM_033380.3(COL4A5):c.2024G>A (p.Gly675Asp)
NM_033380.3(COL4A5):c.2024_2029del (p.Gly675_Asp676del) rs1569494903
NM_033380.3(COL4A5):c.2030_2032dup (p.Val677_Gly678insVal)
NM_033380.3(COL4A5):c.2031_2038del (p.Gly678fs) rs878853017
NM_033380.3(COL4A5):c.2032G>A (p.Gly678Ser)
NM_033380.3(COL4A5):c.2033G>A (p.Gly678Asp) rs2147819583
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+60_2041+61del rs61506795
NM_033380.3(COL4A5):c.2041+61del rs61506795
NM_033380.3(COL4A5):c.2041+61dup rs61506795
NM_033380.3(COL4A5):c.2041+7G>A rs2066627347
NM_033380.3(COL4A5):c.2041+9G>T rs2147819622
NM_033380.3(COL4A5):c.2041G>A (p.Gly681Ser) rs2066627294
NM_033380.3(COL4A5):c.2042-12G>A
NM_033380.3(COL4A5):c.2042-14C>A
NM_033380.3(COL4A5):c.2042-1G>A rs2147820825
NM_033380.3(COL4A5):c.2042-2A>G rs2066636714
NM_033380.3(COL4A5):c.2042-8C>T rs2147820793
NM_033380.3(COL4A5):c.2042-9del
NM_033380.3(COL4A5):c.2042G>A (p.Gly681Asp) rs104886158
NM_033380.3(COL4A5):c.2052A>G (p.Gly684=)
NM_033380.3(COL4A5):c.2057del (p.Pro686fs) rs104886167
NM_033380.3(COL4A5):c.2066C>T (p.Pro689Leu)
NM_033380.3(COL4A5):c.2069G>T (p.Gly690Val)
NM_033380.3(COL4A5):c.2071T>C (p.Leu691=)
NM_033380.3(COL4A5):c.2073G>A (p.Leu691=)
NM_033380.3(COL4A5):c.2075dup (p.Gly693fs)
NM_033380.3(COL4A5):c.2077G>A (p.Gly693Arg) rs1569495038
NM_033380.3(COL4A5):c.2078G>T (p.Gly693Val)
NM_033380.3(COL4A5):c.2082A>T (p.Ile694=)
NM_033380.3(COL4A5):c.2086G>T (p.Gly696Cys)
NM_033380.3(COL4A5):c.2087G>A (p.Gly696Asp) rs2147820991
NM_033380.3(COL4A5):c.2095G>A (p.Gly699Arg) rs1569495049
NM_033380.3(COL4A5):c.2095G>T (p.Gly699Ter) rs1569495049
NM_033380.3(COL4A5):c.2100A>G (p.Glu700=) rs1603292056
NM_033380.3(COL4A5):c.2105G>T (p.Gly702Val)
NM_033380.3(COL4A5):c.2109C>A (p.Ile703=)
NM_033380.3(COL4A5):c.2109C>T (p.Ile703=) rs369092053
NM_033380.3(COL4A5):c.2114del (p.Gly705fs)
NM_033380.3(COL4A5):c.212C>T (p.Pro71Leu) rs2065868609
NM_033380.3(COL4A5):c.2135C>G (p.Pro712Arg)
NM_033380.3(COL4A5):c.2139T>C (p.Gly713=)
NM_033380.3(COL4A5):c.2142dup (p.Lys715fs) rs1603292081
NM_033380.3(COL4A5):c.2145A>G (p.Lys715=) rs1569495067
NM_033380.3(COL4A5):c.2146+1G>T
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.2168C>T (p.Pro723Leu)
NM_033380.3(COL4A5):c.2172A>C (p.Pro724=)
NM_033380.3(COL4A5):c.2175_2210del (p.Ala726_Gly737del)
NM_033380.3(COL4A5):c.2183G>A (p.Gly728Glu) rs1603292422
NM_033380.3(COL4A5):c.2200G>A (p.Gly734Ser) rs867265684
NM_033380.3(COL4A5):c.2204T>G (p.Leu735Arg)
NM_033380.3(COL4A5):c.2210G>A (p.Gly737Asp)
NM_033380.3(COL4A5):c.2210del (p.Gly737fs)
NM_033380.3(COL4A5):c.2217_2218delinsCT (p.Gly740Trp)
NM_033380.3(COL4A5):c.221G>A (p.Arg74Gln) rs137930367
NM_033380.3(COL4A5):c.221G>T (p.Arg74Leu) rs137930367
NM_033380.3(COL4A5):c.2220G>T (p.Gly740=) rs2147823670
NM_033380.3(COL4A5):c.2228G>A (p.Gly743Asp) rs104886166
NM_033380.3(COL4A5):c.2229C>A (p.Gly743=)
NM_033380.3(COL4A5):c.2229C>G (p.Gly743=)
NM_033380.3(COL4A5):c.2237G>A (p.Gly746Glu) rs867625069
NM_033380.3(COL4A5):c.2244+10A>T
NM_033380.3(COL4A5):c.2244+14T>C
NM_033380.3(COL4A5):c.2244+15del
NM_033380.3(COL4A5):c.2244+18T>A
NM_033380.3(COL4A5):c.2244+196C>A rs866710848
NM_033380.3(COL4A5):c.2244+1G>T rs281874688
NM_033380.3(COL4A5):c.2244+214_2244+216del rs762022225
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+2T>C
NM_033380.3(COL4A5):c.2244+5G>A
NM_033380.3(COL4A5):c.2245-12T>A
NM_033380.3(COL4A5):c.2245-1G>A rs104886348
NM_033380.3(COL4A5):c.2245-231dup rs34196456
NM_033380.3(COL4A5):c.2245-5T>C rs2147831923
NM_033380.3(COL4A5):c.2245-9A>G
NM_033380.3(COL4A5):c.2246G>A (p.Gly749Asp) rs2066734214
NM_033380.3(COL4A5):c.224G>T (p.Gly75Val)
NM_033380.3(COL4A5):c.2259T>A (p.Phe753Leu) rs2147831970
NM_033380.3(COL4A5):c.2262A>G (p.Ala754=) rs2147831982
NM_033380.3(COL4A5):c.2262del (p.Leu755fs) rs2147831991
NM_033380.3(COL4A5):c.2268TGGGCCACC[1] (p.758PPG[1])
NM_033380.3(COL4A5):c.2277T>A (p.Pro759=)
NM_033380.3(COL4A5):c.2286A>C (p.Pro762=) rs369726425
NM_033380.3(COL4A5):c.2287G>C (p.Gly763Arg)
NM_033380.3(COL4A5):c.2288G>A (p.Gly763Glu) rs281874689
NM_033380.3(COL4A5):c.2294del (p.Pro765fs) rs2066735315
NM_033380.3(COL4A5):c.2296G>C (p.Gly766Arg)
NM_033380.3(COL4A5):c.22C>T (p.Leu8=)
NM_033380.3(COL4A5):c.2306G>A (p.Gly769Glu) rs1437633065
NM_033380.3(COL4A5):c.2308G>C (p.Ala770Pro) rs2066736056
NM_033380.3(COL4A5):c.231+3A>G
NM_033380.3(COL4A5):c.2311C>G (p.Leu771Val)
NM_033380.3(COL4A5):c.2315G>C (p.Gly772Ala) rs104886173
NM_033380.3(COL4A5):c.2315G>T (p.Gly772Val) rs104886173
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.232G>A (p.Gly78Ser)
NM_033380.3(COL4A5):c.2330G>C (p.Arg777Pro) rs200371339
NM_033380.3(COL4A5):c.2332G>A (p.Gly778Ser) rs104886174
NM_033380.3(COL4A5):c.2342_2343delinsTG (p.Gly781Val) rs2147832375
NM_033380.3(COL4A5):c.2346T>G (p.Pro782=)
NM_033380.3(COL4A5):c.2348_2349insT (p.Pro785fs) rs2147832420
NM_033380.3(COL4A5):c.234T>C (p.Gly78=) rs2147734784
NM_033380.3(COL4A5):c.2351G>T (p.Gly784Val)
NM_033380.3(COL4A5):c.2355T>C (p.Pro785=)
NM_033380.3(COL4A5):c.2359G>C (p.Gly787Arg) rs1603293605
NM_033380.3(COL4A5):c.2364C>T (p.Arg788=)
NM_033380.3(COL4A5):c.2365A>T (p.Thr789Ser)
NM_033380.3(COL4A5):c.2373A>G (p.Leu791=) rs2147832508
NM_033380.3(COL4A5):c.2377G>A (p.Gly793Arg)
NM_033380.3(COL4A5):c.2386G>A (p.Gly796Arg) rs104886177
NM_033380.3(COL4A5):c.2386G>C (p.Gly796Arg) rs104886177
NM_033380.3(COL4A5):c.2389C>T (p.Pro797Ser)
NM_033380.3(COL4A5):c.2392A>G (p.Lys798Glu)
NM_033380.3(COL4A5):c.2394A>T (p.Lys798Asn) rs281874691
NM_033380.3(COL4A5):c.2395+1G>A rs869025331
NM_033380.3(COL4A5):c.2395+1G>C rs869025331
NM_033380.3(COL4A5):c.2395+213T>G rs28379540
NM_033380.3(COL4A5):c.2396-17G>A
NM_033380.3(COL4A5):c.2396-1G>C rs886041509
NM_033380.3(COL4A5):c.2396-1G>T rs886041509
NM_033380.3(COL4A5):c.2403T>A (p.Val801=) rs747235110
NM_033380.3(COL4A5):c.2404G>A (p.Gly802Arg) rs104886179
NM_033380.3(COL4A5):c.2408C>T (p.Pro803Leu)
NM_033380.3(COL4A5):c.2412T>C (p.Asn804=)
NM_033380.3(COL4A5):c.2414G>A (p.Gly805Glu) rs1556418210
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.2423G>A (p.Gly808Glu) rs104886180
NM_033380.3(COL4A5):c.2427A>T (p.Pro809=)
NM_033380.3(COL4A5):c.2430G>T (p.Met810Ile)
NM_033380.3(COL4A5):c.2431G>A (p.Gly811Arg) rs104886182
NM_033380.3(COL4A5):c.2431G>T (p.Gly811Ter)
NM_033380.3(COL4A5):c.2432G>T (p.Gly811Val) rs104886183
NM_033380.3(COL4A5):c.2434C>T (p.Pro812Ser)
NM_033380.3(COL4A5):c.2441G>A (p.Gly814Glu) rs2066899797
NM_033380.3(COL4A5):c.2447del (p.Pro816fs)
NM_033380.3(COL4A5):c.2451_2483del (p.Gly819_Ile829del)
NM_033380.3(COL4A5):c.2454_2457dup (p.Val820fs) rs2147849950
NM_033380.3(COL4A5):c.2464G>A (p.Gly822Arg) rs104886184
NM_033380.3(COL4A5):c.2466ACCACCAGG[1] (p.823PPG[1]) rs104886356
NM_033380.3(COL4A5):c.2473G>A (p.Gly825Arg) rs281874692
NM_033380.3(COL4A5):c.2478A>G (p.Pro826=)
NM_033380.3(COL4A5):c.2484G>A (p.Gly828=)
NM_033380.3(COL4A5):c.2489del (p.Pro830fs)
NM_033380.3(COL4A5):c.2497del (p.Pro832_Ile833insTer) rs2066901407
NM_033380.3(COL4A5):c.2500G>C (p.Gly834Arg) rs281874696
NM_033380.3(COL4A5):c.2501G>T (p.Gly834Val) rs2147850123
NM_033380.3(COL4A5):c.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+17T>C
NM_033380.3(COL4A5):c.2509+1G>A rs1556418287
NM_033380.3(COL4A5):c.2509+1G>T
NM_033380.3(COL4A5):c.2509+20G>C
NM_033380.3(COL4A5):c.2509+5G>C rs1556418297
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.2510-1G>A rs770451831
NM_033380.3(COL4A5):c.2510-1_2514del rs2147859764
NM_033380.3(COL4A5):c.2510-1_2523del rs1064794029
NM_033380.3(COL4A5):c.2510-20A>G
NM_033380.3(COL4A5):c.2510-4C>T
NM_033380.3(COL4A5):c.2510G>A (p.Gly837Asp)
NM_033380.3(COL4A5):c.2511T>C (p.Gly837=) rs2067012415
NM_033380.3(COL4A5):c.2513T>G (p.Leu838Ter) rs1603297223
NM_033380.3(COL4A5):c.2518G>T (p.Gly840Ter) rs2147859836
NM_033380.3(COL4A5):c.2520A>C (p.Gly840=)
NM_033380.3(COL4A5):c.2524C>T (p.Pro842Ser)
NM_033380.3(COL4A5):c.2530G>T (p.Glu844Ter)
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.2538_2539dup (p.Asp847fs) rs1556419800
NM_033380.3(COL4A5):c.2540_2563del (p.Asp847_Asp854del)
NM_033380.3(COL4A5):c.2547A>T (p.Gly849=)
NM_033380.3(COL4A5):c.2548C>T (p.Pro850Ser)
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.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.2604del (p.Gly869fs) rs1556419850
NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg) rs104886189
NM_033380.3(COL4A5):c.2610A>G (p.Ala870=)
NM_033380.3(COL4A5):c.2613T>C (p.Pro871=)
NM_033380.3(COL4A5):c.2614G>T (p.Gly872Cys) rs104886190
NM_033380.3(COL4A5):c.2615G>A (p.Gly872Asp) rs1556419869
NM_033380.3(COL4A5):c.2624G>A (p.Gly875Glu) rs104886191
NM_033380.3(COL4A5):c.2633G>A (p.Gly878Glu) rs104886199
NM_033380.3(COL4A5):c.2640A>C (p.Pro880=)
NM_033380.3(COL4A5):c.2640A>T (p.Pro880=) rs749949606
NM_033380.3(COL4A5):c.2641G>A (p.Gly881Arg)
NM_033380.3(COL4A5):c.2643G>A (p.Gly881=) rs2147860342
NM_033380.3(COL4A5):c.2655dup (p.Ala886fs) rs2147860367
NM_033380.3(COL4A5):c.2659G>A (p.Gly887Ser) rs281874699
NM_033380.3(COL4A5):c.2660G>A (p.Gly887Asp) rs104886201
NM_033380.3(COL4A5):c.2660G>T (p.Gly887Val) rs104886201
NM_033380.3(COL4A5):c.2664C>T (p.Ala888=)
NM_033380.3(COL4A5):c.2666C>G (p.Ser889Cys)
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.2678-13A>G
NM_033380.3(COL4A5):c.2678-16T>A rs376960230
NM_033380.3(COL4A5):c.2678-16T>C
NM_033380.3(COL4A5):c.2678G>A (p.Gly893Asp)
NM_033380.3(COL4A5):c.2682C>A (p.Thr894=)
NM_033380.3(COL4A5):c.2686G>A (p.Gly896Ser) rs1556420349
NM_033380.3(COL4A5):c.2687G>T (p.Gly896Val)
NM_033380.3(COL4A5):c.2696G>A (p.Gly899Asp) rs281874702
NM_033380.3(COL4A5):c.2709T>C (p.Pro903=)
NM_033380.3(COL4A5):c.2713G>A (p.Gly905Ser)
NM_033380.3(COL4A5):c.2715C>T (p.Gly905=)
NM_033380.3(COL4A5):c.2722G>T (p.Gly908Ter) rs281874703
NM_033380.3(COL4A5):c.2723G>A (p.Gly908Glu) rs878853089
NM_033380.3(COL4A5):c.2739T>G (p.Pro913=)
NM_033380.3(COL4A5):c.273C>A (p.Ile91=) rs767080664
NM_033380.3(COL4A5):c.2740G>A (p.Gly914Ser)
NM_033380.3(COL4A5):c.2741G>C (p.Gly914Ala)
NM_033380.3(COL4A5):c.2747G>A (p.Ser916Asn)
NM_033380.3(COL4A5):c.2749G>A (p.Gly917Ser)
NM_033380.3(COL4A5):c.2750G>A (p.Gly917Asp)
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.2759G>T (p.Gly920Val)
NM_033380.3(COL4A5):c.275_276+2del
NM_033380.3(COL4A5):c.276+19A>G
NM_033380.3(COL4A5):c.276+4_276+7del rs2147734917
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+1G>C rs1603297903
NM_033380.3(COL4A5):c.2767+4A>G
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.2785G>A (p.Gly929Ser)
NM_033380.3(COL4A5):c.2786G>A (p.Gly929Asp) rs2147865584
NM_033380.3(COL4A5):c.2786del (p.Gly929fs) rs2147865567
NM_033380.3(COL4A5):c.278G>T (p.Gly93Val) rs2147746087
NM_033380.3(COL4A5):c.2790G>A (p.Gln930=)
NM_033380.3(COL4A5):c.2793A>G (p.Pro931=)
NM_033380.3(COL4A5):c.2794G>A (p.Gly932Arg) rs2147865597
NM_033380.3(COL4A5):c.2794G>C (p.Gly932Arg)
NM_033380.3(COL4A5):c.2799T>C (p.Leu933=)
NM_033380.3(COL4A5):c.2802T>C (p.Pro934=)
NM_033380.3(COL4A5):c.2804G>A (p.Gly935Asp) rs104886195
NM_033380.3(COL4A5):c.2807C>G (p.Pro936Arg)
NM_033380.3(COL4A5):c.2808T>C (p.Pro936=)
NM_033380.3(COL4A5):c.2821G>T (p.Gly941Cys) rs104886196
NM_033380.3(COL4A5):c.2829A>G (p.Lys943=) rs2147865705
NM_033380.3(COL4A5):c.2833G>T (p.Glu945Ter) rs2147865716
NM_033380.3(COL4A5):c.2846del (p.Pro949fs) rs104886197
NM_033380.3(COL4A5):c.2850C>T (p.Gly950=) rs2067081850
NM_033380.3(COL4A5):c.2856del (p.Gly953fs) rs2147865795
NM_033380.3(COL4A5):c.2859A>G (p.Gly953=)
NM_033380.3(COL4A5):c.286G>A (p.Gly96Arg) rs281874706
NM_033380.3(COL4A5):c.2883C>T (p.Gly961=) rs2147865858
NM_033380.3(COL4A5):c.2886A>G (p.Ser962=)
NM_033380.3(COL4A5):c.2889del (p.Gly964fs)
NM_033380.3(COL4A5):c.2901G>T (p.Gly967=)
NM_033380.3(COL4A5):c.2902del (p.Glu968fs) rs2147865884
NM_033380.3(COL4A5):c.2905C>T (p.Pro969Ser)
NM_033380.3(COL4A5):c.2908G>A (p.Gly970Ser) rs2147865920
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.2917+1G>C rs104886371
NM_033380.3(COL4A5):c.2918-17C>G
NM_033380.3(COL4A5):c.2927G>T (p.Gly976Val)
NM_033380.3(COL4A5):c.2927del (p.Gly976fs) rs2147869121
NM_033380.3(COL4A5):c.2936G>A (p.Gly979Glu)
NM_033380.3(COL4A5):c.2937G>A (p.Gly979=)
NM_033380.3(COL4A5):c.2946T>C (p.Gly982=)
NM_033380.3(COL4A5):c.2950C>T (p.Gln984Ter) rs2147869202
NM_033380.3(COL4A5):c.2958_2975del (p.Asp989_Gly994del) rs1556421106
NM_033380.3(COL4A5):c.295G>A (p.Gly99Arg) rs2066011417
NM_033380.3(COL4A5):c.2962G>T (p.Gly988Ter)
NM_033380.3(COL4A5):c.2965_2982del (p.Asp989_Gly994del) rs104886374
NM_033380.3(COL4A5):c.296G>C (p.Gly99Ala)
NM_033380.3(COL4A5):c.2974C>T (p.Gln992Ter) rs2147869275
NM_033380.3(COL4A5):c.2981G>C (p.Gly994Ala)
NM_033380.3(COL4A5):c.2982A>G (p.Gly994=) rs1259964366
NM_033380.3(COL4A5):c.2984T>C (p.Leu995Pro)
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+230del rs200028646
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.3017-1G>A rs104886378
NM_033380.3(COL4A5):c.3017-2A>G
NM_033380.3(COL4A5):c.3017-6T>G
NM_033380.3(COL4A5):c.3017G>A (p.Gly1006Asp) rs104886202
NM_033380.3(COL4A5):c.3017G>T (p.Gly1006Val) rs104886202
NM_033380.3(COL4A5):c.3035G>A (p.Gly1012Asp) rs2147872098
NM_033380.3(COL4A5):c.3037C>T (p.Leu1013Phe)
NM_033380.3(COL4A5):c.303A>G (p.Pro101=)
NM_033380.3(COL4A5):c.3041C>G (p.Pro1014Arg)
NM_033380.3(COL4A5):c.3045A>G (p.Gly1015=)
NM_033380.3(COL4A5):c.3051dup (p.Gly1018fs) rs2147872148
NM_033380.3(COL4A5):c.3052G>A (p.Gly1018Ser)
NM_033380.3(COL4A5):c.3067C>A (p.Pro1023Thr)
NM_033380.3(COL4A5):c.3072del (p.Gly1027fs) rs2147872245
NM_033380.3(COL4A5):c.3079G>A (p.Gly1027Arg) rs2147872254
NM_033380.3(COL4A5):c.3080G>A (p.Gly1027Glu) rs104886209
NM_033380.3(COL4A5):c.3085A>T (p.Ile1029Phe) rs2147872284
NM_033380.3(COL4A5):c.3088G>A (p.Gly1030Ser) rs104886210
NM_033380.3(COL4A5):c.3097G>A (p.Gly1033Ser)
NM_033380.3(COL4A5):c.30C>T (p.Ala10=)
NM_033380.3(COL4A5):c.3106+6TGA[3]
NM_033380.3(COL4A5):c.3106G>C (p.Gly1036Arg) rs2147872357
NM_033380.3(COL4A5):c.3107-12T>C
NM_033380.3(COL4A5):c.3107-15A>T
NM_033380.3(COL4A5):c.3107-20A>C
NM_033380.3(COL4A5):c.3107-4A>G rs397515497
NM_033380.3(COL4A5):c.3107G>A (p.Gly1036Glu) rs104886212
NM_033380.3(COL4A5):c.3116G>A (p.Gly1039Asp) rs1556421658
NM_033380.3(COL4A5):c.3117T>C (p.Gly1039=) rs2147873100
NM_033380.3(COL4A5):c.3128_3134del (p.Pro1043fs)
NM_033380.3(COL4A5):c.3135A>G (p.Gly1045=) rs2147873129
NM_033380.3(COL4A5):c.314G>A (p.Gly105Asp) rs1569488381
NM_033380.3(COL4A5):c.3156A>G (p.Gln1052=)
NM_033380.3(COL4A5):c.3169G>C (p.Gly1057Arg)
NM_033380.3(COL4A5):c.3170G>A (p.Gly1057Glu)
NM_033380.3(COL4A5):c.3170G>T (p.Gly1057Val) rs1569499010
NM_033380.3(COL4A5):c.3171A>T (p.Gly1057=)
NM_033380.3(COL4A5):c.3178G>T (p.Gly1060Ter) rs104886217
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.3196G>A (p.Gly1066Ser) rs104886219
NM_033380.3(COL4A5):c.3197G>A (p.Gly1066Asp) rs104886221
NM_033380.3(COL4A5):c.3197G>T (p.Gly1066Val) rs104886221
NM_033380.3(COL4A5):c.3206G>T (p.Gly1069Val) rs281874712
NM_033380.3(COL4A5):c.3208A>G (p.Ile1070Val)
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+1G>A rs2147746303
NM_033380.3(COL4A5):c.321+7A>G rs2147746332
NM_033380.3(COL4A5):c.3210T>A (p.Ile1070=) rs2147873390
NM_033380.3(COL4A5):c.3216_3229del (p.Ser1072fs)
NM_033380.3(COL4A5):c.322-11G>A
NM_033380.3(COL4A5):c.322-12C>T
NM_033380.3(COL4A5):c.322-18T>C
NM_033380.3(COL4A5):c.322-4A>C
NM_033380.3(COL4A5):c.3230del (p.Gly1077fs) rs2147873472
NM_033380.3(COL4A5):c.3237T>G (p.Pro1079=) rs2147873486
NM_033380.3(COL4A5):c.3238G>C (p.Gly1080Arg) rs1556421731
NM_033380.3(COL4A5):c.3241C>G (p.Pro1081Ala)
NM_033380.3(COL4A5):c.3243A>G (p.Pro1081=)
NM_033380.3(COL4A5):c.3246+10G>A
NM_033380.3(COL4A5):c.3246+15A>G
NM_033380.3(COL4A5):c.3246+1G>A rs1569499064
NM_033380.3(COL4A5):c.3246+3A>C rs2147873531
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>A
NM_033380.3(COL4A5):c.3247-11C>T
NM_033380.3(COL4A5):c.3247-18T>C
NM_033380.3(COL4A5):c.3247-2A>G rs2147934967
NM_033380.3(COL4A5):c.3252G>A (p.Glu1084=) rs2147934994
NM_033380.3(COL4A5):c.3255T>C (p.Pro1085=)
NM_033380.3(COL4A5):c.3256G>C (p.Gly1086Arg) rs104886231
NM_033380.3(COL4A5):c.3257G>T (p.Gly1086Val) rs104886232
NM_033380.3(COL4A5):c.3259_3285del (p.Leu1087_Gly1095del)
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.3293G>A (p.Gly1098Asp) rs1603306716
NM_033380.3(COL4A5):c.32_33delinsTT (p.Gly11Val)
NM_033380.3(COL4A5):c.3306T>C (p.Asp1102=)
NM_033380.3(COL4A5):c.3310G>A (p.Gly1104Ser)
NM_033380.3(COL4A5):c.3310G>T (p.Gly1104Cys) rs1569504072
NM_033380.3(COL4A5):c.3315G>A (p.Leu1105=) rs1415696204
NM_033380.3(COL4A5):c.3319G>A (p.Gly1107Arg) rs104886225
NM_033380.3(COL4A5):c.331_361del (p.Gly111fs)
NM_033380.3(COL4A5):c.3320G>A (p.Gly1107Glu)
NM_033380.3(COL4A5):c.3327A>C (p.Pro1109=)
NM_033380.3(COL4A5):c.3336T>C (p.Pro1112=)
NM_033380.3(COL4A5):c.3346G>A (p.Gly1116Arg) rs2147935344
NM_033380.3(COL4A5):c.3347G>A (p.Gly1116Glu) rs281874713
NM_033380.3(COL4A5):c.3357C>A (p.Gly1119=) rs773019423
NM_033380.3(COL4A5):c.3365G>A (p.Gly1122Glu)
NM_033380.3(COL4A5):c.3368del (p.Phe1123fs) rs1569504092
NM_033380.3(COL4A5):c.3373+10C>T
NM_033380.3(COL4A5):c.3373+2T>C rs2147935467
NM_033380.3(COL4A5):c.3373G>C (p.Gly1125Arg) rs2067822565
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.3393_3419del (p.Pro1132_Gly1140del)
NM_033380.3(COL4A5):c.33C>T (p.Gly11=)
NM_033380.3(COL4A5):c.3400G>A (p.Gly1134Ser)
NM_033380.3(COL4A5):c.3409G>T (p.Gly1137Cys) rs1569505374
NM_033380.3(COL4A5):c.340G>A (p.Gly114Arg)
NM_033380.3(COL4A5):c.3410G>A (p.Gly1137Asp) rs1131691795
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.3424C>T (p.Pro1142Ser)
NM_033380.3(COL4A5):c.3426C>G (p.Pro1142=)
NM_033380.3(COL4A5):c.3427G>A (p.Gly1143Ser) rs104886228
NM_033380.3(COL4A5):c.3427G>T (p.Gly1143Cys) rs104886228
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.3436G>A (p.Gly1146Arg) rs2147953043
NM_033380.3(COL4A5):c.3437G>A (p.Gly1146Glu) rs2068061224
NM_033380.3(COL4A5):c.3445G>C (p.Gly1149Arg) rs2147953060
NM_033380.3(COL4A5):c.3447T>C (p.Gly1149=)
NM_033380.3(COL4A5):c.344C>T (p.Ala115Val)
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+1G>A
NM_033380.3(COL4A5):c.3454+3A>C
NM_033380.3(COL4A5):c.3454+7A>C
NM_033380.3(COL4A5):c.3454+8T>C rs777110527
NM_033380.3(COL4A5):c.3454G>T (p.Gly1152Cys) rs2147953102
NM_033380.3(COL4A5):c.3455-15T>A
NM_033380.3(COL4A5):c.3455-16G>A
NM_033380.3(COL4A5):c.3455-17T>A
NM_033380.3(COL4A5):c.3455-9A>G rs104886388
NM_033380.3(COL4A5):c.3457G>C (p.Gly1153Arg)
NM_033380.3(COL4A5):c.3479C>G (p.Pro1160Arg)
NM_033380.3(COL4A5):c.3481G>A (p.Gly1161Arg) rs104886235
NM_033380.3(COL4A5):c.3482G>A (p.Gly1161Glu) rs1603310380
NM_033380.3(COL4A5):c.3488C>T (p.Pro1163Leu)
NM_033380.3(COL4A5):c.3490G>T (p.Gly1164Cys) rs1057518125
NM_033380.3(COL4A5):c.3491G>A (p.Gly1164Asp) rs2147955072
NM_033380.3(COL4A5):c.3492C>A (p.Gly1164=) rs967018326
NM_033380.3(COL4A5):c.3492C>T (p.Gly1164=)
NM_033380.3(COL4A5):c.3496A>G (p.Lys1166Glu) rs1064794446
NM_033380.3(COL4A5):c.3498A>G (p.Lys1166=)
NM_033380.3(COL4A5):c.34T>C (p.Leu12=)
NM_033380.3(COL4A5):c.3500G>A (p.Gly1167Asp)
NM_033380.3(COL4A5):c.3507C>G (p.Pro1169=)
NM_033380.3(COL4A5):c.3508G>T (p.Gly1170Cys) rs104886237
NM_033380.3(COL4A5):c.3509G>T (p.Gly1170Val)
NM_033380.3(COL4A5):c.3511C>T (p.Gln1171Ter) rs2068084185
NM_033380.3(COL4A5):c.3526G>A (p.Gly1176Arg) rs1569505525
NM_033380.3(COL4A5):c.3527G>A (p.Gly1176Glu) rs886042570
NM_033380.3(COL4A5):c.3530C>G (p.Pro1177Arg) rs759897999
NM_033380.3(COL4A5):c.3536G>T (p.Gly1179Val) rs2147955255
NM_033380.3(COL4A5):c.3538C>T (p.Gln1180Ter) rs104886241
NM_033380.3(COL4A5):c.3547G>A (p.Glu1183Lys)
NM_033380.3(COL4A5):c.3553+20T>C
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.3554G>A (p.Gly1185Asp)
NM_033380.3(COL4A5):c.3558A>G (p.Gln1186=)
NM_033380.3(COL4A5):c.3576A>G (p.Pro1192=)
NM_033380.3(COL4A5):c.3584dup (p.Gly1196fs) rs2147956419
NM_033380.3(COL4A5):c.3585del (p.Gly1196fs) rs1569505604
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.3587G>T (p.Gly1196Val) rs281874717
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+19T>A
NM_033380.3(COL4A5):c.3604+1G>A
NM_033380.3(COL4A5):c.3604+20G>C
NM_033380.3(COL4A5):c.3604+3A>T rs1569505614
NM_033380.3(COL4A5):c.3604+6_3604+7insATG
NM_033380.3(COL4A5):c.3604+7_3604+27delinsATGCTAAATCAATCTATAATAA
NM_033380.3(COL4A5):c.3604+9T>A
NM_033380.3(COL4A5):c.3604+9T>G rs2147956574
NM_033380.3(COL4A5):c.3604G>T (p.Gly1202Cys) rs1057522042
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.3605-2A>G rs104886385
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.3605G>A (p.Gly1202Asp) rs2068126366
NM_033380.3(COL4A5):c.3605G>T (p.Gly1202Val) rs2068126366
NM_033380.3(COL4A5):c.3613G>A (p.Gly1205Ser) rs104886245
NM_033380.3(COL4A5):c.3614G>A (p.Gly1205Asp) rs1556446493
NM_033380.3(COL4A5):c.3617A>G (p.Asp1206Gly) rs2147959019
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.3640G>A (p.Gly1214Arg) rs2147959120
NM_033380.3(COL4A5):c.364C>G (p.Pro122Ala)
NM_033380.3(COL4A5):c.3652C>T (p.Leu1218Phe)
NM_033380.3(COL4A5):c.3655_3680del (p.Pro1219fs)
NM_033380.3(COL4A5):c.3656C>T (p.Pro1219Leu)
NM_033380.3(COL4A5):c.3659G>A (p.Gly1220Asp) rs104886251
NM_033380.3(COL4A5):c.3659G>T (p.Gly1220Val) rs104886251
NM_033380.3(COL4A5):c.3668G>A (p.Gly1223Asp) rs104886252
NM_033380.3(COL4A5):c.3669C>A (p.Gly1223=)
NM_033380.3(COL4A5):c.367G>A (p.Gly123Arg) rs1569488426
NM_033380.3(COL4A5):c.3680T>C (p.Phe1227Ser)
NM_033380.3(COL4A5):c.3685G>A (p.Gly1229Ser) rs1569505771
NM_033380.3(COL4A5):c.3686G>A (p.Gly1229Asp) rs104886253
NM_033380.3(COL4A5):c.3686G>C (p.Gly1229Ala) rs104886253
NM_033380.3(COL4A5):c.3686G>T (p.Gly1229Val) rs104886253
NM_033380.3(COL4A5):c.3695G>A (p.Gly1232Asp)
NM_033380.3(COL4A5):c.3695del (p.Gly1232fs) rs1556446657
NM_033380.3(COL4A5):c.3696T>C (p.Gly1232=)
NM_033380.3(COL4A5):c.3699G>A (p.Val1233=)
NM_033380.3(COL4A5):c.3704G>C (p.Gly1235Ala)
NM_033380.3(COL4A5):c.3704G>T (p.Gly1235Val) rs2068130178
NM_033380.3(COL4A5):c.3706C>G (p.Pro1236Ala)
NM_033380.3(COL4A5):c.3712G>A (p.Gly1238Ser) rs2147959471
NM_033380.3(COL4A5):c.3713G>A (p.Gly1238Asp)
NM_033380.3(COL4A5):c.3721G>A (p.Gly1241Ser) rs104886255
NM_033380.3(COL4A5):c.3721G>T (p.Gly1241Cys) rs104886255
NM_033380.3(COL4A5):c.3722G>A (p.Gly1241Asp) rs281874721
NM_033380.3(COL4A5):c.3730G>A (p.Gly1244Ser) rs143552311
NM_033380.3(COL4A5):c.3730G>C (p.Gly1244Arg) rs143552311
NM_033380.3(COL4A5):c.3731G>A (p.Gly1244Asp) rs104886261
NM_033380.3(COL4A5):c.3742G>A (p.Glu1248Lys)
NM_033380.3(COL4A5):c.3750T>C (p.Pro1250=)
NM_033380.3(COL4A5):c.3754G>A (p.Gly1252Ser) rs104886262
NM_033380.3(COL4A5):c.3755G>A (p.Gly1252Asp) rs2147959671
NM_033380.3(COL4A5):c.3769C>T (p.Gln1257Ter) rs1569505812
NM_033380.3(COL4A5):c.3770A>G (p.Gln1257Arg)
NM_033380.3(COL4A5):c.3773G>A (p.Gly1258Asp)
NM_033380.3(COL4A5):c.3781G>A (p.Gly1261Arg) rs2147959775
NM_033380.3(COL4A5):c.3782G>A (p.Gly1261Glu) rs104886264
NM_033380.3(COL4A5):c.3785G>A (p.Arg1262Lys)
NM_033380.3(COL4A5):c.3787C>T (p.Pro1263Ser) rs1012489715
NM_033380.3(COL4A5):c.3808+41_3808+42del rs200814705
NM_033380.3(COL4A5):c.3808+42del rs200814705
NM_033380.3(COL4A5):c.3808+42dup rs200814705
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.3809-1G>A
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.3809G>A (p.Gly1270Asp) rs2147974770
NM_033380.3(COL4A5):c.3809G>T (p.Gly1270Val) rs2147974770
NM_033380.3(COL4A5):c.3819T>A (p.Gly1273=) rs775815758
NM_033380.3(COL4A5):c.3827G>A (p.Gly1276Asp) rs2147974833
NM_033380.3(COL4A5):c.3827G>T (p.Gly1276Val) rs2147974833
NM_033380.3(COL4A5):c.3829C>A (p.Pro1277Thr) rs761470284
NM_033380.3(COL4A5):c.3829C>T (p.Pro1277Ser) rs761470284
NM_033380.3(COL4A5):c.3837T>C (p.Gly1279=)
NM_033380.3(COL4A5):c.384+1G>A rs1569488437
NM_033380.3(COL4A5):c.384+7T>A
NM_033380.3(COL4A5):c.3840C>G (p.Leu1280=)
NM_033380.3(COL4A5):c.3844G>A (p.Gly1282Arg)
NM_033380.3(COL4A5):c.384G>C (p.Lys128Asn) rs1569488434
NM_033380.3(COL4A5):c.385-11A>G
NM_033380.3(COL4A5):c.385-11A>T
NM_033380.3(COL4A5):c.385-20T>C
NM_033380.3(COL4A5):c.385-2A>G rs2066062676
NM_033380.3(COL4A5):c.385-2A>T rs2066062676
NM_033380.3(COL4A5):c.385-7C>T
NM_033380.3(COL4A5):c.385-987_385-978del rs200438386
NM_033380.3(COL4A5):c.3850G>T (p.Gly1284Ter) rs2147974914
NM_033380.3(COL4A5):c.3853G>A (p.Gly1285Ser)
NM_033380.3(COL4A5):c.3855dup (p.Ile1286fs)
NM_033380.3(COL4A5):c.385G>A (p.Gly129Arg) rs281874722
NM_033380.3(COL4A5):c.3872dup (p.Asn1292fs) rs2068330297
NM_033380.3(COL4A5):c.3876T>C (p.Asn1292=)
NM_033380.3(COL4A5):c.3887C>T (p.Pro1296Leu)
NM_033380.3(COL4A5):c.3890G>T (p.Gly1297Val)
NM_033380.3(COL4A5):c.3891G>T (p.Gly1297=) rs2068331232
NM_033380.3(COL4A5):c.3892C>T (p.Leu1298=)
NM_033380.3(COL4A5):c.3898G>A (p.Gly1300Ser) rs2147975020
NM_033380.3(COL4A5):c.3903G>A (p.Leu1301=) rs1603314032
NM_033380.3(COL4A5):c.3905C>T (p.Pro1302Leu)
NM_033380.3(COL4A5):c.3907G>T (p.Gly1303Cys) rs1327176357
NM_033380.3(COL4A5):c.3917G>T (p.Gly1306Val)
NM_033380.3(COL4A5):c.3922C>T (p.Gln1308Ter) rs2147975083
NM_033380.3(COL4A5):c.3927A>C (p.Gly1309=) rs2147975100
NM_033380.3(COL4A5):c.3932del (p.Pro1311fs) rs2147975121
NM_033380.3(COL4A5):c.3940C>T (p.Gln1314Ter) rs2147975189
NM_033380.3(COL4A5):c.3942+18A>G
NM_033380.3(COL4A5):c.3942G>A (p.Gln1314=) rs281874724
NM_033380.3(COL4A5):c.3942_3942+1del rs2147975210
NM_033380.3(COL4A5):c.3943-14T>C
NM_033380.3(COL4A5):c.3943-1G>A rs281874725
NM_033380.3(COL4A5):c.3943-6A>T
NM_033380.3(COL4A5):c.3944G>T (p.Gly1315Val) rs2147979912
NM_033380.3(COL4A5):c.3948T>C (p.Asn1316=)
NM_033380.3(COL4A5):c.394G>A (p.Gly132Arg) rs2147753780
NM_033380.3(COL4A5):c.3954C>T (p.Gly1318=)
NM_033380.3(COL4A5):c.3956G>A (p.Arg1319Gln)
NM_033380.3(COL4A5):c.395G>A (p.Gly132Glu) rs1569488841
NM_033380.3(COL4A5):c.3964C>G (p.Leu1322Val) rs762726134
NM_033380.3(COL4A5):c.3967A>G (p.Asn1323Asp)
NM_033380.3(COL4A5):c.3968A>G (p.Asn1323Ser)
NM_033380.3(COL4A5):c.3970G>A (p.Gly1324Arg) rs2068409652
NM_033380.3(COL4A5):c.3984T>C (p.Asp1328=)
NM_033380.3(COL4A5):c.3987T>C (p.Pro1329=)
NM_033380.3(COL4A5):c.3989G>C (p.Gly1330Ala) rs2147980049
NM_033380.3(COL4A5):c.3991C>T (p.Leu1331Phe)
NM_033380.3(COL4A5):c.3G>T (p.Met1Ile)
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.4015+2T>C rs2147980108
NM_033380.3(COL4A5):c.4015G>A (p.Gly1339Ser) rs104886266
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.4016-18dup
NM_033380.3(COL4A5):c.4016-20T>C
NM_033380.3(COL4A5):c.4016-9del rs746824408
NM_033380.3(COL4A5):c.4016G>A (p.Gly1339Asp)
NM_033380.3(COL4A5):c.402A>G (p.Pro134=)
NM_033380.3(COL4A5):c.4038_4041del (p.Pro1347fs) rs2147980410
NM_033380.3(COL4A5):c.4042G>A (p.Gly1348Arg) rs1569507398
NM_033380.3(COL4A5):c.4048G>T (p.Ala1350Ser)
NM_033380.3(COL4A5):c.404G>A (p.Gly135Asp) rs1556403086
NM_033380.3(COL4A5):c.404G>T (p.Gly135Val)
NM_033380.3(COL4A5):c.4050T>C (p.Ala1350=)
NM_033380.3(COL4A5):c.4060G>T (p.Gly1354Trp)
NM_033380.3(COL4A5):c.4063del (p.Glu1355fs) rs1556453276
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.4069G>A (p.Gly1357Arg)
NM_033380.3(COL4A5):c.4069G>T (p.Gly1357Ter)
NM_033380.3(COL4A5):c.406A>G (p.Ser136Gly) rs768580195
NM_033380.3(COL4A5):c.4070G>A (p.Gly1357Glu) rs104886402
NM_033380.3(COL4A5):c.4076T>C (p.Ile1359Thr)
NM_033380.3(COL4A5):c.4079G>A (p.Gly1360Asp) rs2147980527
NM_033380.3(COL4A5):c.4086A>T (p.Pro1362=)
NM_033380.3(COL4A5):c.4087+11T>C
NM_033380.3(COL4A5):c.4087+19G>A
NM_033380.3(COL4A5):c.4087+1G>A rs587776401
NM_033380.3(COL4A5):c.4088-20_4088-19del
NM_033380.3(COL4A5):c.4088-2A>G
NM_033380.3(COL4A5):c.4088-3T>C
NM_033380.3(COL4A5):c.4088-3T>G rs748750912
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.4088G>C (p.Gly1363Ala) rs2147982015
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.4094C>T (p.Pro1365Leu)
NM_033380.3(COL4A5):c.4106del (p.Gly1369fs) rs1569507535
NM_033380.3(COL4A5):c.4109del (p.Pro1370fs)
NM_033380.3(COL4A5):c.4124_4132dup (p.Ile1377_Lys1378insIleIleIle)
NM_033380.3(COL4A5):c.413G>A (p.Gly138Asp) rs2147753910
NM_033380.3(COL4A5):c.4145G>A (p.Gly1382Asp)
NM_033380.3(COL4A5):c.4145G>C (p.Gly1382Ala) rs2147982134
NM_033380.3(COL4A5):c.4148C>T (p.Pro1383Leu)
NM_033380.3(COL4A5):c.4155_4157del (p.Ile1386del) rs1569507545
NM_033380.3(COL4A5):c.4159_4170del (p.Pro1387_Pro1390del) rs1569507550
NM_033380.3(COL4A5):c.4162G>A (p.Gly1388Ser)
NM_033380.3(COL4A5):c.4165C>T (p.Gln1389Ter) rs281874727
NM_033380.3(COL4A5):c.4172G>T (p.Gly1391Val)
NM_033380.3(COL4A5):c.4180G>T (p.Gly1394Cys)
NM_033380.3(COL4A5):c.4197A>G (p.Gln1399=) rs2147982304
NM_033380.3(COL4A5):c.4207G>A (p.Gly1403Ser) rs2147982351
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.4217-1G>A rs587776402
NM_033380.3(COL4A5):c.4217-6C>G
NM_033380.3(COL4A5):c.4228C>T (p.Pro1410Ser)
NM_033380.3(COL4A5):c.4232C>T (p.Pro1411Leu) rs2147989213
NM_033380.3(COL4A5):c.4245A>C (p.Gly1415=) rs2147989224
NM_033380.3(COL4A5):c.4247G>A (p.Arg1416His) rs753765957
NM_033380.3(COL4A5):c.4248C>T (p.Arg1416=)
NM_033380.3(COL4A5):c.4258C>G (p.Pro1420Ala)
NM_033380.3(COL4A5):c.4266T>C (p.Phe1422=)
NM_033380.3(COL4A5):c.4270G>A (p.Gly1424Ser)
NM_033380.3(COL4A5):c.4282C>A (p.Arg1428Ser) rs144282156
NM_033380.3(COL4A5):c.4282C>T (p.Arg1428Cys) rs144282156
NM_033380.3(COL4A5):c.4284C>T (p.Arg1428=)
NM_033380.3(COL4A5):c.4299T>A (p.Gly1433=) rs2147989416
NM_033380.3(COL4A5):c.4302G>T (p.Leu1434=)
NM_033380.3(COL4A5):c.4303C>T (p.Pro1435Ser)
NM_033380.3(COL4A5):c.4315+1G>C rs587776403
NM_033380.3(COL4A5):c.4315+20C>A
NM_033380.3(COL4A5):c.4315+7C>T
NM_033380.3(COL4A5):c.4315G>C (p.Gly1439Arg) rs1569508169
NM_033380.3(COL4A5):c.4316-10G>C rs778775294
NM_033380.3(COL4A5):c.4316-11C>A rs369725471
NM_033380.3(COL4A5):c.4316-11C>T
NM_033380.3(COL4A5):c.4316-12T>C
NM_033380.3(COL4A5):c.4316-13T>G
NM_033380.3(COL4A5):c.4316G>A (p.Gly1439Asp) rs281874735
NM_033380.3(COL4A5):c.4325G>A (p.Gly1442Asp) rs2147991184
NM_033380.3(COL4A5):c.4338C>T (p.Pro1446=) rs2068569299
NM_033380.3(COL4A5):c.4339_4340dup (p.Gly1448fs) rs2147991216
NM_033380.3(COL4A5):c.4341T>C (p.Pro1447=)
NM_033380.3(COL4A5):c.4341del (p.Gly1448fs)
NM_033380.3(COL4A5):c.4342G>C (p.Gly1448Arg) rs104886276
NM_033380.3(COL4A5):c.4353A>G (p.Gly1451=)
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.4364C>T (p.Pro1455Leu)
NM_033380.3(COL4A5):c.4368A>C (p.Pro1456=) rs2147991325
NM_033380.3(COL4A5):c.4371T>G (p.Gly1457=)
NM_033380.3(COL4A5):c.4372C>T (p.Pro1458Ser)
NM_033380.3(COL4A5):c.4374C>T (p.Pro1458=) rs2147991340
NM_033380.3(COL4A5):c.4377del (p.Gly1460fs) rs1603323174
NM_033380.3(COL4A5):c.438+5G>A rs281874739
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.439-7A>G rs2147754958
NM_033380.3(COL4A5):c.4392T>C (p.Val1464=)
NM_033380.3(COL4A5):c.4393G>A (p.Ala1465Thr) rs2147991378
NM_033380.3(COL4A5):c.439G>A (p.Gly147Arg) rs2066069145
NM_033380.3(COL4A5):c.4401A>G (p.Gly1467=)
NM_033380.3(COL4A5):c.4405C>G (p.Leu1469Val)
NM_033380.3(COL4A5):c.4405C>T (p.Leu1469Phe)
NM_033380.3(COL4A5):c.440G>A (p.Gly147Glu)
NM_033380.3(COL4A5):c.4415_4416delinsCT (p.Arg1472Pro) rs2147991408
NM_033380.3(COL4A5):c.4441del (p.Gln1481fs) rs2147991468
NM_033380.3(COL4A5):c.4446C>G (p.Cys1482Trp) rs2147991488
NM_033380.3(COL4A5):c.4449A>C (p.Pro1483=)
NM_033380.3(COL4A5):c.4449A>G (p.Pro1483=) rs2068573805
NM_033380.3(COL4A5):c.4454G>A (p.Gly1485Glu)
NM_033380.3(COL4A5):c.4454del (p.Gly1485fs)
NM_033380.3(COL4A5):c.4462C>T (p.Gln1488Ter) rs2147991545
NM_033380.3(COL4A5):c.4464G>A (p.Gln1488=)
NM_033380.3(COL4A5):c.4469A>T (p.Tyr1490Phe)
NM_033380.3(COL4A5):c.446del (p.Pro149fs) rs104886054
NM_033380.3(COL4A5):c.4473A>G (p.Glu1491=)
NM_033380.3(COL4A5):c.4474G>A (p.Gly1492Ser) rs2147991584
NM_033380.3(COL4A5):c.4475G>C (p.Gly1492Ala) rs104886282
NM_033380.3(COL4A5):c.4475G>T (p.Gly1492Val) rs104886282
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.4506_4507del (p.Arg1503fs) rs1603323412
NM_033380.3(COL4A5):c.4508G>C (p.Arg1503Thr) rs2147991674
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.4528+1G>A rs104886413
NM_033380.3(COL4A5):c.4528+2T>C rs2147991737
NM_033380.3(COL4A5):c.4529-345A>G rs1569508899
NM_033380.3(COL4A5):c.4529-4C>T rs2147998285
NM_033380.3(COL4A5):c.4529-6T>C rs775079914
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.4544G>A (p.Cys1515Tyr) rs2068656815
NM_033380.3(COL4A5):c.4549del (p.Arg1517fs) rs878853030
NM_033380.3(COL4A5):c.4568C>G (p.Pro1523Arg) rs1603326447
NM_033380.3(COL4A5):c.4570T>G (p.Phe1524Val) rs2147998401
NM_033380.3(COL4A5):c.4574dup (p.Met1525fs) rs2147998416
NM_033380.3(COL4A5):c.4575G>C (p.Met1525Ile) rs2147998421
NM_033380.3(COL4A5):c.4579T>A (p.Cys1527Ser)
NM_033380.3(COL4A5):c.4587C>T (p.Ile1529=) rs1603326508
NM_033380.3(COL4A5):c.458G>T (p.Gly153Val) rs1569488946
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.4618del (p.Asp1540fs) rs1603326561
NM_033380.3(COL4A5):c.4623T>G (p.Tyr1541Ter)
NM_033380.3(COL4A5):c.4629C>T (p.Tyr1543=)
NM_033380.3(COL4A5):c.462G>A (p.Met154Ile) rs2066069939
NM_033380.3(COL4A5):c.4631G>A (p.Trp1544Ter) rs104886293
NM_033380.3(COL4A5):c.4632G>C (p.Trp1544Cys) rs104886294
NM_033380.3(COL4A5):c.4632G>T (p.Trp1544Cys)
NM_033380.3(COL4A5):c.465+10T>C
NM_033380.3(COL4A5):c.465+11C>T
NM_033380.3(COL4A5):c.465+12A>T
NM_033380.3(COL4A5):c.465+19G>A
NM_033380.3(COL4A5):c.465+1G>A rs2066070056
NM_033380.3(COL4A5):c.465+1_465+5del rs1556403276
NM_033380.3(COL4A5):c.465+20G>C
NM_033380.3(COL4A5):c.465+2T>C rs2066070104
NM_033380.3(COL4A5):c.465+2_465+3dup rs1569488954
NM_033380.3(COL4A5):c.465+8T>G
NM_033380.3(COL4A5):c.4654_4655insA (p.Pro1552fs) rs2147998652
NM_033380.3(COL4A5):c.466-13T>A rs1569489302
NM_033380.3(COL4A5):c.466-17T>C
NM_033380.3(COL4A5):c.466-1G>C rs2147759174
NM_033380.3(COL4A5):c.4670C>T (p.Pro1557Leu)
NM_033380.3(COL4A5):c.4674A>G (p.Leu1558=)
NM_033380.3(COL4A5):c.4676del (p.Lys1559fs) rs2068659829
NM_033380.3(COL4A5):c.4679G>A (p.Gly1560Asp) rs2147998721
NM_033380.3(COL4A5):c.467G>A (p.Gly156Asp)
NM_033380.3(COL4A5):c.467G>T (p.Gly156Val) rs2066099190
NM_033380.3(COL4A5):c.4701T>C (p.Ile1567=)
NM_033380.3(COL4A5):c.4703_4706+3del rs2068660300
NM_033380.3(COL4A5):c.4705C>T (p.Arg1569Ter) rs104886286
NM_033380.3(COL4A5):c.4706+12A>T
NM_033380.3(COL4A5):c.4706+17G>C
NM_033380.3(COL4A5):c.4706+1G>C
NM_033380.3(COL4A5):c.4706+1G>T rs1569508998
NM_033380.3(COL4A5):c.4706+2T>C rs2147998807
NM_033380.3(COL4A5):c.4706+5G>T
NM_033380.3(COL4A5):c.4706+6G>A
NM_033380.3(COL4A5):c.4706+8A>G
NM_033380.3(COL4A5):c.4706+9T>C rs2147998824
NM_033380.3(COL4A5):c.4706G>A (p.Arg1569Gln) rs281874743
NM_033380.3(COL4A5):c.4707-1G>A
NM_033380.3(COL4A5):c.4707-1G>C rs1556462917
NM_033380.3(COL4A5):c.4707-30_4707-11del rs2148001404
NM_033380.3(COL4A5):c.4707-9C>A rs2148001442
NM_033380.3(COL4A5):c.4709G>C (p.Cys1570Ser) rs104886287
NM_033380.3(COL4A5):c.4726C>T (p.Pro1576Ser) rs747041833
NM_033380.3(COL4A5):c.4743A>C (p.Ala1581=)
NM_033380.3(COL4A5):c.4743del (p.Val1582fs) rs1569509210
NM_033380.3(COL4A5):c.4747C>G (p.His1583Asp)
NM_033380.3(COL4A5):c.4749_4750del (p.His1583fs) rs1603328025
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.4769C>T (p.Pro1590Leu) rs281874747
NM_033380.3(COL4A5):c.476G>A (p.Gly159Asp) rs2147759208
NM_033380.3(COL4A5):c.476G>T (p.Gly159Val)
NM_033380.3(COL4A5):c.4772A>G (p.His1591Arg)
NM_033380.3(COL4A5):c.4789G>A (p.Asp1597Asn) rs2148001674
NM_033380.3(COL4A5):c.4808A>G (p.Tyr1603Cys) rs104886298
NM_033380.3(COL4A5):c.4821+14T>A
NM_033380.3(COL4A5):c.4821+1G>A rs587776404
NM_033380.3(COL4A5):c.4821+2T>C rs2148001764
NM_033380.3(COL4A5):c.4821G>A (p.Met1607Ile) rs104886300
NM_033380.3(COL4A5):c.4822-10T>C
NM_033380.3(COL4A5):c.4822-10del
NM_033380.3(COL4A5):c.4822-152dup rs767171748
NM_033380.3(COL4A5):c.4822-15C>T
NM_033380.3(COL4A5):c.4828A>G (p.Ser1610Gly)
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.4847C>A (p.Ser1616Ter) rs750941179
NM_033380.3(COL4A5):c.4848A>G (p.Ser1616=)
NM_033380.3(COL4A5):c.4856C>T (p.Ala1619Val)
NM_033380.3(COL4A5):c.4871del (p.Gly1624fs)
NM_033380.3(COL4A5):c.4875C>T (p.Ser1625=) rs2148002328
NM_033380.3(COL4A5):c.4876T>A (p.Cys1626Ser) rs2068715609
NM_033380.3(COL4A5):c.4877G>A (p.Cys1626Tyr)
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.4913G>A (p.Cys1638Tyr) rs1569509333
NM_033380.3(COL4A5):c.4915C>T (p.His1639Tyr)
NM_033380.3(COL4A5):c.4918G>A (p.Gly1640Arg)
NM_033380.3(COL4A5):c.4931G>A (p.Cys1644Tyr) rs104886302
NM_033380.3(COL4A5):c.4940A>G (p.Tyr1647Cys) rs2148002477
NM_033380.3(COL4A5):c.4946A>G (p.Asn1649Ser)
NM_033380.3(COL4A5):c.494C>A (p.Ser165Ter) rs2066099798
NM_033380.3(COL4A5):c.4952A>G (p.Tyr1651Cys) rs2068717823
NM_033380.3(COL4A5):c.4953C>T (p.Tyr1651=) rs2148002492
NM_033380.3(COL4A5):c.4960T>C (p.Trp1654Arg) rs1569509354
NM_033380.3(COL4A5):c.4962G>A (p.Trp1654Ter) rs2068718016
NM_033380.3(COL4A5):c.4963C>T (p.Leu1655=)
NM_033380.3(COL4A5):c.4964T>G (p.Leu1655Arg) rs104886303
NM_033380.3(COL4A5):c.496C>T (p.Leu166=)
NM_033380.3(COL4A5):c.4972G>A (p.Val1658Ile) rs2068718130
NM_033380.3(COL4A5):c.4972G>C (p.Val1658Leu) rs2068718130
NM_033380.3(COL4A5):c.4975G>T (p.Asp1659Tyr)
NM_033380.3(COL4A5):c.4994+1G>A
NM_033380.3(COL4A5):c.4994+3A>G rs1569509373
NM_033380.3(COL4A5):c.4994+5A>G
NM_033380.3(COL4A5):c.4994+6G>C
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.4994G>A (p.Ser1665Asn) rs104886305
NM_033380.3(COL4A5):c.4995-16A>G
NM_033380.3(COL4A5):c.4995-16_4995-13del
NM_033380.3(COL4A5):c.4995-1G>T rs2148003624
NM_033380.3(COL4A5):c.4995-20T>A
NM_033380.3(COL4A5):c.4995-6T>G
NM_033380.3(COL4A5):c.49_50del (p.Leu17fs) rs104886427
NM_033380.3(COL4A5):c.5006C>G (p.Ser1669Ter) rs2148003651
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.5023G>T (p.Gly1675Ter) rs2148003686
NM_033380.3(COL4A5):c.5029T>G (p.Leu1677Val) rs2148003708
NM_033380.3(COL4A5):c.5030T>A (p.Leu1677Ter) rs2148003713
NM_033380.3(COL4A5):c.5034G>A (p.Arg1678=)
NM_033380.3(COL4A5):c.5037A>C (p.Thr1679=)
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.5049A>T (p.Arg1683=)
NM_033380.3(COL4A5):c.5050T>G (p.Cys1684Gly) rs104886310
NM_033380.3(COL4A5):c.5051G>A (p.Cys1684Tyr) rs2148003771
NM_033380.3(COL4A5):c.5054A>C (p.Gln1685Pro) rs1569509492
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.511G>A (p.Gly171Ser) rs1556404027
NM_033380.3(COL4A5):c.511G>C (p.Gly171Arg) rs1556404027
NM_033380.3(COL4A5):c.51G>A (p.Leu17=)
NM_033380.3(COL4A5):c.51G>T (p.Leu17=) rs2064373024
NM_033380.3(COL4A5):c.529G>T (p.Gly177Cys) rs104886056
NM_033380.3(COL4A5):c.530G>A (p.Gly177Asp) rs1569489328
NM_033380.3(COL4A5):c.530G>C (p.Gly177Ala)
NM_033380.3(COL4A5):c.532C>T (p.Pro178Ser)
NM_033380.3(COL4A5):c.546+15A>T
NM_033380.3(COL4A5):c.546+18T>G
NM_033380.3(COL4A5):c.546+2T>G rs2066101487
NM_033380.3(COL4A5):c.546+2dup rs1569489353
NM_033380.3(COL4A5):c.546+4A>G
NM_033380.3(COL4A5):c.546+4_546+7del rs1569489348
NM_033380.3(COL4A5):c.546+4del rs2066101600
NM_033380.3(COL4A5):c.546+6T>A rs2147759554
NM_033380.3(COL4A5):c.547-11C>G rs1287996085
NM_033380.3(COL4A5):c.547-15C>T
NM_033380.3(COL4A5):c.547-1G>A rs104886431
NM_033380.3(COL4A5):c.547G>A (p.Gly183Ser) rs1556404985
NM_033380.3(COL4A5):c.550C>T (p.Leu184=)
NM_033380.3(COL4A5):c.552A>T (p.Leu184=) rs2147765059
NM_033380.3(COL4A5):c.556G>A (p.Gly186Ser)
NM_033380.3(COL4A5):c.557G>A (p.Gly186Asp) rs2147765101
NM_033380.3(COL4A5):c.570A>T (p.Ile190=) rs2147765149
NM_033380.3(COL4A5):c.572_583del (p.Pro191_Gly195delinsArg) rs1569489843
NM_033380.3(COL4A5):c.574G>T (p.Gly192Trp) rs104886060
NM_033380.3(COL4A5):c.575G>A (p.Gly192Glu) rs2147765197
NM_033380.3(COL4A5):c.584G>T (p.Gly195Val) rs104886061
NM_033380.3(COL4A5):c.585del (p.Pro197fs)
NM_033380.3(COL4A5):c.58T>C (p.Trp20Arg)
NM_033380.3(COL4A5):c.58_65del (p.Trp20fs) rs2147448022
NM_033380.3(COL4A5):c.591A>G (p.Pro197=)
NM_033380.3(COL4A5):c.594dup (p.Pro199fs) rs1569489863
NM_033380.3(COL4A5):c.602G>A (p.Gly201Asp) rs104886062
NM_033380.3(COL4A5):c.609+173_609+176del rs202125234
NM_033380.3(COL4A5):c.609+875G>A
NM_033380.3(COL4A5):c.609+875G>T rs1569490148
NM_033380.3(COL4A5):c.609+8C>A
NM_033380.3(COL4A5):c.609G>T (p.Met203Ile) rs2147765366
NM_033380.3(COL4A5):c.610-13C>T
NM_033380.3(COL4A5):c.611G>A (p.Gly204Asp) rs104886063
NM_033380.3(COL4A5):c.611_612del (p.Gly204fs) rs281874759
NM_033380.3(COL4A5):c.612C>T (p.Gly204=) rs2147770114
NM_033380.3(COL4A5):c.618T>C (p.Pro206=)
NM_033380.3(COL4A5):c.619G>C (p.Gly207Arg) rs1569490379
NM_033380.3(COL4A5):c.620G>T (p.Gly207Val)
NM_033380.3(COL4A5):c.629G>A (p.Gly210Glu)
NM_033380.3(COL4A5):c.635del (p.Pro212fs) rs104886065
NM_033380.3(COL4A5):c.637G>C (p.Gly213Arg) rs267606310
NM_033380.3(COL4A5):c.638G>A (p.Gly213Glu) rs104886066
NM_033380.3(COL4A5):c.639A>G (p.Gly213=) rs2147770243
NM_033380.3(COL4A5):c.643A>T (p.Lys215Ter)
NM_033380.3(COL4A5):c.645+16T>C
NM_033380.3(COL4A5):c.645+19A>G
NM_033380.3(COL4A5):c.645+2T>C rs1569490387
NM_033380.3(COL4A5):c.646-20A>G
NM_033380.3(COL4A5):c.646-2A>G
NM_033380.3(COL4A5):c.646-4C>T rs2066182701
NM_033380.3(COL4A5):c.646-6C>G rs200151467
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.648G>C (p.Gly216=)
NM_033380.3(COL4A5):c.655G>A (p.Gly219Ser) rs104886075
NM_033380.3(COL4A5):c.659T>G (p.Leu220Ter) rs2066183255
NM_033380.3(COL4A5):c.65_77del (p.Gln22fs) rs281874760
NM_033380.3(COL4A5):c.665T>G (p.Phe222Cys) rs281874761
NM_033380.3(COL4A5):c.670G>A (p.Gly224Arg) rs2147770608
NM_033380.3(COL4A5):c.679G>A (p.Gly227Ser) rs1556405916
NM_033380.3(COL4A5):c.67_81+1del rs2147448071
NM_033380.3(COL4A5):c.687+10G>A
NM_033380.3(COL4A5):c.687+13A>G
NM_033380.3(COL4A5):c.687+16G>C
NM_033380.3(COL4A5):c.687+19del
NM_033380.3(COL4A5):c.687+1G>C rs104886440
NM_033380.3(COL4A5):c.687+5G>A rs1556405930
NM_033380.3(COL4A5):c.688-7C>G rs2066187629
NM_033380.3(COL4A5):c.688-8G>A rs2066187570
NM_033380.3(COL4A5):c.689G>A (p.Gly230Asp) rs281874763
NM_033380.3(COL4A5):c.689G>T (p.Gly230Val) rs281874763
NM_033380.3(COL4A5):c.698G>C (p.Gly233Ala) rs1569490592
NM_033380.3(COL4A5):c.707G>A (p.Gly236Asp) rs1556406001
NM_033380.3(COL4A5):c.709C>T (p.Pro237Ser) rs2147771258
NM_033380.3(COL4A5):c.716G>A (p.Gly239Glu) rs104886068
NM_033380.3(COL4A5):c.718C>T (p.Pro240Ser)
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.760G>T (p.Glu254Ter)
NM_033380.3(COL4A5):c.761_762del (p.Glu254fs) rs104886443
NM_033380.3(COL4A5):c.768G>C (p.Gln256His) rs2147771484
NM_033380.3(COL4A5):c.76G>A (p.Ala26Thr) rs1276860807
NM_033380.3(COL4A5):c.779A>C (p.Gln260Pro)
NM_033380.3(COL4A5):c.780+10T>G rs2147771581
NM_033380.3(COL4A5):c.780+14G>C
NM_033380.3(COL4A5):c.780+19A>T
NM_033380.3(COL4A5):c.780+1G>A
NM_033380.3(COL4A5):c.781-14C>A
NM_033380.3(COL4A5):c.781-17C>T
NM_033380.3(COL4A5):c.781-1G>A rs1603283547
NM_033380.3(COL4A5):c.781-2A>G rs1556406736
NM_033380.3(COL4A5):c.781-4A>G
NM_033380.3(COL4A5):c.781-6G>A
NM_033380.3(COL4A5):c.781-8C>G
NM_033380.3(COL4A5):c.782G>A (p.Gly261Glu) rs2147776049
NM_033380.3(COL4A5):c.796C>T (p.Arg266Ter) rs104886071
NM_033380.3(COL4A5):c.797G>A (p.Arg266Gln)
NM_033380.3(COL4A5):c.799G>C (p.Gly267Arg) rs1603283567
NM_033380.3(COL4A5):c.81+11C>A
NM_033380.3(COL4A5):c.81+20C>T
NM_033380.3(COL4A5):c.81+74_81+75dup rs59044748
NM_033380.3(COL4A5):c.81+75del rs59044748
NM_033380.3(COL4A5):c.81+75dup rs59044748
NM_033380.3(COL4A5):c.812C>G (p.Pro271Arg) rs2147776169
NM_033380.3(COL4A5):c.816A>G (p.Pro272=)
NM_033380.3(COL4A5):c.818G>A (p.Gly273Glu) rs2147776175
NM_033380.3(COL4A5):c.819G>T (p.Gly273=)
NM_033380.3(COL4A5):c.81G>A (p.Ala27=) rs1569469478
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.826G>A (p.Gly276Ser)
NM_033380.3(COL4A5):c.82G>A (p.Ala28Thr) rs869025333
NM_033380.3(COL4A5):c.834+13A>G
NM_033380.3(COL4A5):c.834+14G>A
NM_033380.3(COL4A5):c.834+1G>A rs104886446
NM_033380.3(COL4A5):c.834+1G>C rs104886446
NM_033380.3(COL4A5):c.835-1G>C
NM_033380.3(COL4A5):c.835-2A>G rs1556406859
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.848del (p.Gly283fs) rs2147776565
NM_033380.3(COL4A5):c.856G>T (p.Gly286Cys)
NM_033380.3(COL4A5):c.857G>C (p.Gly286Ala)
NM_033380.3(COL4A5):c.858T>G (p.Gly286=) rs183837448
NM_033380.3(COL4A5):c.858_859del (p.Lys288fs) rs2147776596
NM_033380.3(COL4A5):c.866G>A (p.Gly289Asp) rs104886450
NM_033380.3(COL4A5):c.866G>T (p.Gly289Val) rs104886450
NM_033380.3(COL4A5):c.867T>A (p.Gly289=)
NM_033380.3(COL4A5):c.868G>T (p.Glu290Ter)
NM_033380.3(COL4A5):c.872A>C (p.Gln291Pro)
NM_033380.3(COL4A5):c.874G>A (p.Gly292Arg) rs104886073
NM_033380.3(COL4A5):c.874G>C (p.Gly292Arg) rs104886073
NM_033380.3(COL4A5):c.882A>G (p.Pro294=)
NM_033380.3(COL4A5):c.884G>A (p.Gly295Asp) rs104886079
NM_033380.3(COL4A5):c.891+13A>G
NM_033380.3(COL4A5):c.891+1G>A rs104886451
NM_033380.3(COL4A5):c.891+1G>T rs104886451
NM_033380.3(COL4A5):c.891+20A>G
NM_033380.3(COL4A5):c.891+2T>A rs2147776797
NM_033380.3(COL4A5):c.891+2del
NM_033380.3(COL4A5):c.891+37A>G rs2294543
NM_033380.3(COL4A5):c.891+5G>A rs2147776814
NM_033380.3(COL4A5):c.891+7G>C rs769589691
NM_033380.3(COL4A5):c.891+83_891+84insACTT rs3215506
NM_033380.3(COL4A5):c.891+8_891+16del rs2147776823
NM_033380.3(COL4A5):c.891+9T>G rs779787322
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.892-16del rs775131776
NM_033380.3(COL4A5):c.892-2A>G rs104886453
NM_033380.3(COL4A5):c.892-4A>C rs777914438
NM_033380.3(COL4A5):c.892-9A>G
NM_033380.3(COL4A5):c.893G>A (p.Gly298Asp) rs1569491068
NM_033380.3(COL4A5):c.902G>A (p.Gly301Asp) rs1569491075
NM_033380.3(COL4A5):c.902G>T (p.Gly301Val)
NM_033380.3(COL4A5):c.907G>C (p.Asp303His)
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.919G>A (p.Gly307Ser) rs2147777425
NM_033380.3(COL4A5):c.920G>A (p.Gly307Asp) rs104886082
NM_033380.3(COL4A5):c.925C>T (p.Pro309Ser)
NM_033380.3(COL4A5):c.926C>G (p.Pro309Arg)
NM_033380.3(COL4A5):c.927A>G (p.Pro309=)
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.935del (p.Pro312fs) rs1556407078
NM_033380.3(COL4A5):c.936+12A>C
NM_033380.3(COL4A5):c.936+1G>A rs1569491107
NM_033380.3(COL4A5):c.936+9C>G rs2066238622
NM_033380.3(COL4A5):c.937-10T>A
NM_033380.3(COL4A5):c.937-11A>G
NM_033380.3(COL4A5):c.937-170del rs34190918
NM_033380.3(COL4A5):c.937-170dup rs34190918
NM_033380.3(COL4A5):c.937-171_937-170del rs34190918
NM_033380.3(COL4A5):c.937-18A>G
NM_033380.3(COL4A5):c.937-2A>G
NM_033380.3(COL4A5):c.937-4A>G rs2147780997
NM_033380.3(COL4A5):c.937G>T (p.Gly313Cys) rs104886084
NM_033380.3(COL4A5):c.93G>T (p.Gly31=)
NM_033380.3(COL4A5):c.946G>A (p.Gly316Ser) rs2066273571
NM_033380.3(COL4A5):c.972C>T (p.Pro324=)
NM_033380.3(COL4A5):c.973G>A (p.Gly325Arg) rs104886088
NM_033380.3(COL4A5):c.981T>A (p.Asp327Glu)
NM_033380.3(COL4A5):c.983G>T (p.Gly328Val) rs2066274585
NM_033380.3(COL4A5):c.983del (p.Gly328fs) rs1556407684
NM_033380.3(COL4A5):c.989del (p.Lys330fs)
NM_033380.3(COL4A5):c.990+11dup
NM_033380.3(COL4A5):c.990+13A>G
NM_033380.3(COL4A5):c.990+1G>T rs1556407701
NM_033380.3(COL4A5):c.991-10C>T
NM_033380.3(COL4A5):c.991-12T>C
NM_033380.3(COL4A5):c.991-14A>G rs2147784234
NM_033380.3(COL4A5):c.991-174C>A rs73526296
NM_033380.3(COL4A5):c.991-17A>G
NM_033380.3(COL4A5):c.991-9A>T
NM_033380.3(COL4A5):c.994C>T (p.Gln332Ter) rs2147784271
NM_033380.3(COL4A5):c.996A>G (p.Gln332=) rs2147784301

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