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
|
|