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.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.2396-44T>G
|
rs190497402
|
0.00094
|
NM_033380.3(COL4A5):c.4217-30A>G
|
rs199782398
|
0.00091
|
NM_033380.3(COL4A5):c.3799+18A>G
|
rs201371556
|
0.00065
|
NM_033380.3(COL4A5):c.1187C>T (p.Pro396Leu)
|
rs113013606
|
0.00047
|
NM_033380.3(COL4A5):c.1588-13T>G
|
rs201708502
|
0.00047
|
NM_033380.3(COL4A5):c.2768-10T>C
|
rs370284884
|
0.00038
|
NM_033380.3(COL4A5):c.2216C>A (p.Pro739His)
|
rs201123438
|
0.00037
|
NM_033380.3(COL4A5):c.4353A>T (p.Gly1451=)
|
rs146884759
|
0.00028
|
NM_033380.3(COL4A5):c.3023A>G (p.Lys1008Arg)
|
rs142929745
|
0.00027
|
NM_033380.3(COL4A5):c.3771A>G (p.Gln1257=)
|
rs148046007
|
0.00025
|
NM_033380.3(COL4A5):c.2979T>G (p.Pro993=)
|
rs41306255
|
0.00024
|
NM_033380.3(COL4A5):c.3296C>T (p.Ser1099Phe)
|
rs767087695
|
0.00021
|
NM_033380.3(COL4A5):c.4015+5T>C
|
rs190856675
|
0.00020
|
NM_033380.3(COL4A5):c.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.2571A>G (p.Gly857=)
|
rs41311553
|
0.00012
|
NM_033380.3(COL4A5):c.319C>T (p.Pro107Ser)
|
rs182634806
|
0.00012
|
NM_033380.3(COL4A5):c.488T>C (p.Met163Thr)
|
rs142503631
|
0.00012
|
NM_033380.3(COL4A5):c.4072C>A (p.Leu1358Ile)
|
rs143020337
|
0.00011
|
NM_033380.3(COL4A5):c.1768A>G (p.Lys590Glu)
|
rs368137679
|
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.4246C>T (p.Arg1416Cys)
|
rs104886270
|
0.00008
|
NM_033380.3(COL4A5):c.89A>G (p.Tyr30Cys)
|
rs150305490
|
0.00008
|
NM_033380.3(COL4A5):c.1813C>A (p.Pro605Thr)
|
rs781016371
|
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.646-6C>T
|
rs200151467
|
0.00007
|
NM_033380.3(COL4A5):c.3923A>G (p.Gln1308Arg)
|
rs104886399
|
0.00006
|
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp)
|
rs104886142
|
0.00005
|
NM_033380.3(COL4A5):c.4309C>G (p.Gln1437Glu)
|
rs143778018
|
0.00005
|
NM_033380.3(COL4A5):c.4414C>T (p.Arg1472Cys)
|
rs746184634
|
0.00005
|
NM_033380.3(COL4A5):c.1043G>A (p.Arg348Lys)
|
rs377663039
|
0.00004
|
NM_033380.3(COL4A5):c.271A>G (p.Ile91Val)
|
rs919113147
|
0.00004
|
NM_033380.3(COL4A5):c.3955C>T (p.Arg1319Trp)
|
rs138903372
|
0.00004
|
NM_033380.3(COL4A5):c.2882G>T (p.Gly961Val)
|
rs768478427
|
0.00003
|
NM_033380.3(COL4A5):c.2998G>A (p.Gly1000Arg)
|
rs2067110688
|
0.00003
|
NM_033380.3(COL4A5):c.2395+4T>C
|
rs774352105
|
0.00002
|
NM_033380.3(COL4A5):c.3493G>A (p.Glu1165Lys)
|
rs771538814
|
0.00002
|
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln)
|
rs104886308
|
0.00002
|
NM_033380.3(COL4A5):c.1276G>A (p.Gly426Arg)
|
rs104886111
|
0.00001
|
NM_033380.3(COL4A5):c.2516A>G (p.His839Arg)
|
rs1272041306
|
0.00001
|
NM_033380.3(COL4A5):c.2865G>A (p.Met955Ile)
|
rs1350078739
|
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.3508G>A (p.Gly1170Ser)
|
rs104886237
|
0.00001
|
NM_033380.3(COL4A5):c.3878C>T (p.Pro1293Leu)
|
rs1397121500
|
0.00001
|
NM_033380.3(COL4A5):c.4315+1G>A
|
rs587776403
|
0.00001
|
NM_033380.3(COL4A5):c.4693C>G (p.Pro1565Ala)
|
rs104886295
|
0.00001
|
GRCh38/hg38 Xq22.3(chrX:108447982-108538433)x3
|
|
|
NM_033380.3(COL4A5):c.-25_-8dup
|
rs752443408
|
|
NM_033380.3(COL4A5):c.1001G>A (p.Gly334Asp)
|
rs104886093
|
|
NM_033380.3(COL4A5):c.1033-15del
|
rs104886089
|
|
NM_033380.3(COL4A5):c.1033-6A>G
|
rs869025330
|
|
NM_033380.3(COL4A5):c.1117C>T (p.Arg373Ter)
|
rs104886094
|
|
NM_033380.3(COL4A5):c.1165+241del
|
rs202217066
|
|
NM_033380.3(COL4A5):c.1267G>T (p.Gly423Ter)
|
|
|
NM_033380.3(COL4A5):c.1294G>A (p.Gly432Arg)
|
rs281874664
|
|
NM_033380.3(COL4A5):c.1424-20T>A
|
rs281874668
|
|
NM_033380.3(COL4A5):c.1570G>T (p.Gly524Cys)
|
rs1170254952
|
|
NM_033380.3(COL4A5):c.1612C>T (p.Pro538Ser)
|
rs2147810008
|
|
NM_033380.3(COL4A5):c.1779+1G>A
|
rs104886337
|
|
NM_033380.3(COL4A5):c.1780-2A>G
|
|
|
NM_033380.3(COL4A5):c.1808G>T (p.Gly603Val)
|
rs104886133
|
|
NM_033380.3(COL4A5):c.1861G>A (p.Gly621Ser)
|
rs104886141
|
|
NM_033380.3(COL4A5):c.1869del (p.Gly624fs)
|
rs1085307808
|
|
NM_033380.3(COL4A5):c.1890A>G (p.Pro630=)
|
rs2147813686
|
|
NM_033380.3(COL4A5):c.1948+168del
|
rs200584982
|
|
NM_033380.3(COL4A5):c.1948+216C>A
|
rs143000039
|
|
NM_033380.3(COL4A5):c.1972A>G (p.Thr658Ala)
|
|
|
NM_033380.3(COL4A5):c.2002C>T (p.Pro668Ser)
|
rs2147819433
|
|
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.2057del (p.Pro686fs)
|
rs104886167
|
|
NM_033380.3(COL4A5):c.2135C>G (p.Pro712Arg)
|
|
|
NM_033380.3(COL4A5):c.2180C>G (p.Pro727Arg)
|
rs753005152
|
|
NM_033380.3(COL4A5):c.221G>T (p.Arg74Leu)
|
rs137930367
|
|
NM_033380.3(COL4A5):c.2228G>A (p.Gly743Asp)
|
rs104886166
|
|
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.2245-231dup
|
rs34196456
|
|
NM_033380.3(COL4A5):c.2395+213T>G
|
rs28379540
|
|
NM_033380.3(COL4A5):c.2396-1G>T
|
rs886041509
|
|
NM_033380.3(COL4A5):c.2414G>A (p.Gly805Glu)
|
rs1556418210
|
|
NM_033380.3(COL4A5):c.2500G>C (p.Gly834Arg)
|
rs281874696
|
|
NM_033380.3(COL4A5):c.2509+98A>G
|
rs143647223
|
|
NM_033380.3(COL4A5):c.2510-1_2523del
|
rs1064794029
|
|
NM_033380.3(COL4A5):c.2604del (p.Gly869fs)
|
rs1556419850
|
|
NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg)
|
rs104886189
|
|
NM_033380.3(COL4A5):c.2660G>T (p.Gly887Val)
|
rs104886201
|
|
NM_033380.3(COL4A5):c.2722G>T (p.Gly908Ter)
|
rs281874703
|
|
NM_033380.3(COL4A5):c.2958_2975del (p.Asp989_Gly994del)
|
rs1556421106
|
|
NM_033380.3(COL4A5):c.3016+230del
|
rs200028646
|
|
NM_033380.3(COL4A5):c.3088G>A (p.Gly1030Ser)
|
rs104886210
|
|
NM_033380.3(COL4A5):c.3107G>A (p.Gly1036Glu)
|
rs104886212
|
|
NM_033380.3(COL4A5):c.3319G>A (p.Gly1107Arg)
|
rs104886225
|
|
NM_033380.3(COL4A5):c.3410G>A (p.Gly1137Asp)
|
rs1131691795
|
|
NM_033380.3(COL4A5):c.3427G>A (p.Gly1143Ser)
|
rs104886228
|
|
NM_033380.3(COL4A5):c.3457G>C (p.Gly1153Arg)
|
|
|
NM_033380.3(COL4A5):c.3490G>T (p.Gly1164Cys)
|
rs1057518125
|
|
NM_033380.3(COL4A5):c.3496A>G (p.Lys1166Glu)
|
rs1064794446
|
|
NM_033380.3(COL4A5):c.3530C>G (p.Pro1177Arg)
|
rs759897999
|
|
NM_033380.3(COL4A5):c.3538C>T (p.Gln1180Ter)
|
rs104886241
|
|
NM_033380.3(COL4A5):c.3554-5G>C
|
rs1057522041
|
|
NM_033380.3(COL4A5):c.3604G>T (p.Gly1202Cys)
|
rs1057522042
|
|
NM_033380.3(COL4A5):c.3617A>G (p.Asp1206Gly)
|
rs2147959019
|
|
NM_033380.3(COL4A5):c.364C>G (p.Pro122Ala)
|
|
|
NM_033380.3(COL4A5):c.3659G>T (p.Gly1220Val)
|
rs104886251
|
|
NM_033380.3(COL4A5):c.3704G>T (p.Gly1235Val)
|
rs2068130178
|
|
NM_033380.3(COL4A5):c.3706C>G (p.Pro1236Ala)
|
|
|
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.384+1G>A
|
rs1569488437
|
|
NM_033380.3(COL4A5):c.385-987_385-978del
|
rs200438386
|
|
NM_033380.3(COL4A5):c.3964C>G (p.Leu1322Val)
|
rs762726134
|
|
NM_033380.3(COL4A5):c.4282C>T (p.Arg1428Cys)
|
rs144282156
|
|
NM_033380.3(COL4A5):c.4284C>T (p.Arg1428=)
|
|
|
NM_033380.3(COL4A5):c.4303C>T (p.Pro1435Ser)
|
|
|
NM_033380.3(COL4A5):c.4316-11C>A
|
rs369725471
|
|
NM_033380.3(COL4A5):c.4393G>A (p.Ala1465Thr)
|
rs2147991378
|
|
NM_033380.3(COL4A5):c.4529-345A>G
|
rs1569508899
|
|
NM_033380.3(COL4A5):c.4570T>G (p.Phe1524Val)
|
rs2147998401
|
|
NM_033380.3(COL4A5):c.4632G>T (p.Trp1544Cys)
|
|
|
NM_033380.3(COL4A5):c.4652T>C (p.Met1551Thr)
|
rs1057518146
|
|
NM_033380.3(COL4A5):c.4670C>T (p.Pro1557Leu)
|
|
|
NM_033380.3(COL4A5):c.4679G>A (p.Gly1560Asp)
|
rs2147998721
|
|
NM_033380.3(COL4A5):c.4705C>T (p.Arg1569Ter)
|
rs104886286
|
|
NM_033380.3(COL4A5):c.4964T>G (p.Leu1655Arg)
|
rs104886303
|
|
NM_033380.3(COL4A5):c.5038C>T (p.Arg1680Ter)
|
rs281874753
|
|
NM_033380.3(COL4A5):c.529G>T (p.Gly177Cys)
|
rs104886056
|
|
NM_033380.3(COL4A5):c.547-11C>G
|
rs1287996085
|
|
NM_033380.3(COL4A5):c.574G>T (p.Gly192Trp)
|
rs104886060
|
|
NM_033380.3(COL4A5):c.584G>T (p.Gly195Val)
|
rs104886061
|
|
NM_033380.3(COL4A5):c.609+173_609+176del
|
rs202125234
|
|
NM_033380.3(COL4A5):c.611_612del (p.Gly204fs)
|
rs281874759
|
|
NM_033380.3(COL4A5):c.639A>G (p.Gly213=)
|
rs2147770243
|
|
NM_033380.3(COL4A5):c.665T>G (p.Phe222Cys)
|
rs281874761
|
|
NM_033380.3(COL4A5):c.679G>A (p.Gly227Ser)
|
rs1556405916
|
|
NM_033380.3(COL4A5):c.687+5G>A
|
rs1556405930
|
|
NM_033380.3(COL4A5):c.709C>T (p.Pro237Ser)
|
rs2147771258
|
|
NM_033380.3(COL4A5):c.796C>T (p.Arg266Ter)
|
rs104886071
|
|
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.82G>A (p.Ala28Thr)
|
rs869025333
|
|
NM_033380.3(COL4A5):c.856G>T (p.Gly286Cys)
|
|
|
NM_033380.3(COL4A5):c.874G>A (p.Gly292Arg)
|
rs104886073
|
|
NM_033380.3(COL4A5):c.891+37A>G
|
rs2294543
|
|
NM_033380.3(COL4A5):c.891+83_891+84insACTT
|
rs3215506
|
|
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.973G>A (p.Gly325Arg)
|
rs104886088
|
|
NM_033380.3(COL4A5):c.990+1G>T
|
rs1556407701
|
|
NM_033380.3(COL4A5):c.991-174C>A
|
rs73526296
|
|