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0.00538
|
NM_001845.6(COL4A1):c.999+276A>G
|
rs192866980
|
0.00529
|
NM_001845.6(COL4A1):c.4203C>T (p.Asp1401=)
|
rs141714960
|
0.00519
|
NM_001845.6(COL4A1):c.3949+10C>T
|
rs188122235
|
0.00488
|
NM_001845.6(COL4A1):c.1701G>A (p.Pro567=)
|
rs146480068
|
0.00458
|
NM_001845.6(COL4A1):c.693+125A>T
|
rs138970497
|
0.00409
|
NM_001845.6(COL4A1):c.859-22C>T
|
rs114434129
|
0.00404
|
NM_001845.6(COL4A1):c.279+103A>G
|
rs552453147
|
0.00389
|
NM_001845.6(COL4A1):c.4756-184G>T
|
rs552170022
|
0.00386
|
NM_001845.6(COL4A1):c.694-197T>G
|
rs9583466
|
0.00386
|
NM_001845.6(COL4A1):c.469-223G>A
|
rs186765111
|
0.00367
|
NM_001845.6(COL4A1):c.4756-59T>A
|
rs145955010
|
0.00364
|
NM_001845.6(COL4A1):c.3407-172T>C
|
rs114503052
|
0.00360
|
NM_001845.6(COL4A1):c.911C>T (p.Pro304Leu)
|
rs34843786
|
0.00357
|
NM_001845.6(COL4A1):c.3776C>G (p.Pro1259Arg)
|
rs146329532
|
0.00352
|
NM_001845.6(COL4A1):c.1537-294C>T
|
rs139989910
|
0.00324
|
NM_001845.6(COL4A1):c.4755+18C>T
|
rs191620431
|
0.00315
|
NM_001845.6(COL4A1):c.161C>T (p.Pro54Leu)
|
rs34004222
|
0.00274
|
NM_001845.6(COL4A1):c.4250-43C>T
|
rs12585906
|
0.00237
|
NM_001845.6(COL4A1):c.-103G>A
|
rs538721412
|
0.00227
|
NM_001845.6(COL4A1):c.4941G>A (p.Pro1647=)
|
rs115834242
|
0.00215
|
NM_001845.6(COL4A1):c.4056C>T (p.Tyr1352=)
|
rs140210015
|
0.00194
|
NM_001845.6(COL4A1):c.2647G>A (p.Val883Ile)
|
rs41275090
|
0.00180
|
NM_001845.6(COL4A1):c.1000-5T>G
|
rs75711155
|
0.00155
|
NM_001845.6(COL4A1):c.1466-6C>T
|
rs183563055
|
0.00149
|
NM_001845.6(COL4A1):c.1898-46G>A
|
rs41275094
|
0.00141
|
NM_001845.6(COL4A1):c.3877-8G>A
|
rs370539477
|
0.00124
|
NM_001845.6(COL4A1):c.904-9C>T
|
rs201481886
|
0.00116
|
NM_001845.6(COL4A1):c.3506-7C>G
|
rs377592935
|
0.00105
|
NM_001845.6(COL4A1):c.651+4_651+5insCAC
|
rs760194800
|
0.00087
|
NM_001845.6(COL4A1):c.2502T>G (p.Pro834=)
|
rs147764548
|
0.00083
|
NM_001845.6(COL4A1):c.2392G>C (p.Val798Leu)
|
rs146950993
|
0.00076
|
NM_001845.6(COL4A1):c.1494C>T (p.Gly498=)
|
rs149046219
|
0.00073
|
NM_001845.6(COL4A1):c.616-31T>C
|
rs77622402
|
0.00072
|
NM_001845.6(COL4A1):c.2542C>G (p.Gln848Glu)
|
rs144207910
|
0.00068
|
NM_001845.6(COL4A1):c.4229T>C (p.Met1410Thr)
|
rs200734000
|
0.00061
|
NM_001845.6(COL4A1):c.957+7G>A
|
rs58908343
|
0.00057
|
NM_001845.6(COL4A1):c.2624C>G (p.Pro875Arg)
|
rs201964644
|
0.00055
|
NM_001845.6(COL4A1):c.690C>T (p.Asp230=)
|
rs149688210
|
0.00049
|
NM_001845.6(COL4A1):c.3198+10G>A
|
rs202002553
|
0.00048
|
NM_001845.6(COL4A1):c.708C>G (p.Val236=)
|
rs139523466
|
0.00048
|
NM_001845.6(COL4A1):c.7C>A (p.Pro3Thr)
|
rs751749989
|
0.00048
|
NM_001845.6(COL4A1):c.3557-3C>T
|
rs185281604
|
0.00045
|
NM_001845.6(COL4A1):c.1534C>T (p.Pro512Ser)
|
rs578161281
|
0.00042
|
NM_001845.6(COL4A1):c.633C>T (p.Pro211=)
|
rs144773264
|
0.00041
|
NM_001845.6(COL4A1):c.1084+19T>C
|
rs542492789
|
0.00039
|
NM_001845.6(COL4A1):c.401C>T (p.Pro134Leu)
|
rs140517831
|
0.00037
|
NM_001845.6(COL4A1):c.2669C>T (p.Pro890Leu)
|
rs139859950
|
0.00035
|
NM_001845.6(COL4A1):c.3774T>C (p.Leu1258=)
|
rs139578640
|
0.00034
|
NM_001845.6(COL4A1):c.1437C>T (p.Pro479=)
|
rs151186561
|
0.00031
|
NM_001845.6(COL4A1):c.1588C>T (p.Pro530Ser)
|
rs145172612
|
0.00031
|
NM_001845.6(COL4A1):c.1735G>A (p.Val579Ile)
|
rs141527136
|
0.00031
|
NM_001845.6(COL4A1):c.3288A>G (p.Pro1096=)
|
rs2305082
|
0.00030
|
NM_001845.6(COL4A1):c.387+14C>T
|
rs190238481
|
0.00030
|
NM_001845.6(COL4A1):c.3949+6A>G
|
rs374341500
|
0.00030
|
NM_001845.6(COL4A1):c.780+29del
|
rs376694563
|
0.00030
|
NM_001845.6(COL4A1):c.477A>T (p.Pro159=)
|
rs141067230
|
0.00029
|
NM_001845.6(COL4A1):c.367C>T (p.Pro123Ser)
|
rs138503916
|
0.00028
|
NM_001845.6(COL4A1):c.966G>A (p.Lys322=)
|
rs372969177
|
0.00026
|
NM_001845.6(COL4A1):c.2007C>T (p.Pro669=)
|
rs145645897
|
0.00025
|
NM_001845.6(COL4A1):c.2126C>T (p.Pro709Leu)
|
rs150129180
|
0.00025
|
NM_001845.6(COL4A1):c.3742+14G>A
|
rs377503687
|
0.00025
|
NM_001845.6(COL4A1):c.388-11T>C
|
rs201801894
|
0.00024
|
NM_001845.6(COL4A1):c.831A>G (p.Lys277=)
|
rs140978802
|
0.00024
|
NM_001845.6(COL4A1):c.553-8C>T
|
rs199534388
|
0.00022
|
NM_001845.6(COL4A1):c.781-12G>A
|
rs202198648
|
0.00022
|
NM_001845.6(COL4A1):c.2093A>G (p.Lys698Arg)
|
rs375318302
|
0.00021
|
NM_001845.6(COL4A1):c.329T>C (p.Ile110Thr)
|
rs138269346
|
0.00021
|
NM_001845.6(COL4A1):c.1820G>T (p.Gly607Val)
|
rs148781420
|
0.00020
|
NM_001845.6(COL4A1):c.3946C>G (p.Gln1316Glu)
|
rs377122126
|
0.00020
|
NM_001845.6(COL4A1):c.4250-12C>T
|
rs202055679
|
0.00020
|
NM_001845.6(COL4A1):c.4098C>T (p.Gly1366=)
|
rs757948524
|
0.00019
|
NM_001845.6(COL4A1):c.3634A>T (p.Met1212Leu)
|
rs199557190
|
0.00017
|
NM_001845.6(COL4A1):c.4756-22_4756-5dup
|
rs778511113
|
0.00017
|
NM_001845.6(COL4A1):c.958-4del
|
rs773018457
|
0.00017
|
NM_001845.6(COL4A1):c.1187G>A (p.Arg396Gln)
|
rs138266832
|
0.00016
|
NM_001845.6(COL4A1):c.1725G>A (p.Ser575=)
|
rs370332353
|
0.00016
|
NM_001845.6(COL4A1):c.3750G>A (p.Pro1250=)
|
rs372343245
|
0.00016
|
NM_001845.6(COL4A1):c.4463-15T>C
|
rs573385917
|
0.00016
|
NM_001845.6(COL4A1):c.1753C>T (p.Arg585Cys)
|
rs374223828
|
0.00015
|
NM_001845.6(COL4A1):c.3170T>C (p.Ile1057Thr)
|
rs569940067
|
0.00015
|
NM_001845.6(COL4A1):c.3712C>T (p.Arg1238Cys)
|
rs148801165
|
0.00015
|
NM_001845.6(COL4A1):c.807+3C>T
|
rs192723236
|
0.00015
|
NM_001845.6(COL4A1):c.1454C>T (p.Pro485Leu)
|
rs142177702
|
0.00014
|
NM_001845.6(COL4A1):c.4151-20T>C
|
rs112561721
|
0.00014
|
NM_001845.6(COL4A1):c.4845G>A (p.Glu1615=)
|
rs142326550
|
0.00014
|
NM_001845.6(COL4A1):c.2570C>T (p.Ser857Leu)
|
rs145861489
|
0.00013
|
NM_001845.6(COL4A1):c.1419C>T (p.Asp473=)
|
rs140440365
|
0.00012
|
NM_001845.6(COL4A1):c.145-9C>G
|
rs757343809
|
0.00012
|
NM_001845.6(COL4A1):c.2560A>G (p.Thr854Ala)
|
rs756949024
|
0.00012
|
NM_001845.6(COL4A1):c.2968+12A>G
|
rs752476229
|
0.00012
|
NM_001845.6(COL4A1):c.606C>T (p.Thr202=)
|
rs754333091
|
0.00012
|
NM_001845.6(COL4A1):c.1881A>G (p.Gly627=)
|
rs202093478
|
0.00011
|
NM_001845.6(COL4A1):c.2160C>T (p.Gly720=)
|
rs781133776
|
0.00011
|
NM_001845.6(COL4A1):c.2316C>T (p.Ile772=)
|
rs377593990
|
0.00011
|
NM_001845.6(COL4A1):c.4446C>T (p.Ala1482=)
|
rs137870576
|
0.00011
|
NM_001845.6(COL4A1):c.280-12C>T
|
rs200121908
|
0.00010
|
NM_001845.6(COL4A1):c.4463-405A>G
|
rs533145484
|
0.00010
|
NM_001845.6(COL4A1):c.2285T>C (p.Val762Ala)
|
rs374930028
|
0.00009
|
NM_001845.6(COL4A1):c.280-11C>T
|
rs377299204
|
0.00009
|
NM_001845.6(COL4A1):c.2903G>A (p.Arg968Gln)
|
rs146288748
|
0.00009
|
NM_001845.6(COL4A1):c.2955G>C (p.Gln985His)
|
rs145018661
|
0.00009
|
NM_001845.6(COL4A1):c.3742+14dup
|
rs761797795
|
0.00009
|
NM_001845.6(COL4A1):c.405C>T (p.Leu135=)
|
rs138888319
|
0.00009
|
NM_001845.6(COL4A1):c.4150+3G>A
|
rs545498227
|
0.00009
|
NM_001845.6(COL4A1):c.4755+3A>G
|
rs570472326
|
0.00009
|
NM_001845.6(COL4A1):c.2447C>T (p.Pro816Leu)
|
rs781249721
|
0.00008
|
NM_001845.6(COL4A1):c.2869+6T>C
|
rs557198622
|
0.00008
|
NM_001845.6(COL4A1):c.3477G>A (p.Pro1159=)
|
rs542472655
|
0.00008
|
NM_001845.6(COL4A1):c.3714C>T (p.Arg1238=)
|
rs377765047
|
0.00008
|
NM_001845.6(COL4A1):c.4441C>T (p.Arg1481Trp)
|
rs199586038
|
0.00008
|
NM_001845.6(COL4A1):c.502G>A (p.Gly168Arg)
|
rs144171664
|
0.00008
|
NM_001845.6(COL4A1):c.1545A>T (p.Gln515His)
|
rs144950610
|
0.00007
|
NM_001845.6(COL4A1):c.2085C>T (p.Pro695=)
|
rs377505775
|
0.00007
|
NM_001845.6(COL4A1):c.2641A>G (p.Met881Val)
|
rs775563545
|
0.00007
|
NM_001845.6(COL4A1):c.3198+16C>T
|
rs768685175
|
0.00007
|
NM_001845.6(COL4A1):c.4442G>A (p.Arg1481Gln)
|
rs376607450
|
0.00007
|
NM_001845.6(COL4A1):c.4449T>C (p.His1483=)
|
rs777962282
|
0.00007
|
NM_001845.6(COL4A1):c.4658C>T (p.Ala1553Val)
|
rs201150281
|
0.00007
|
NM_001845.6(COL4A1):c.4716C>T (p.Ser1572=)
|
rs200290773
|
0.00007
|
NM_001845.6(COL4A1):c.4882G>A (p.Ala1628Thr)
|
rs144201848
|
0.00007
|
NM_001845.6(COL4A1):c.1427G>A (p.Arg476Gln)
|
rs376673751
|
0.00006
|
NM_001845.6(COL4A1):c.1858G>C (p.Ala620Pro)
|
rs372803920
|
0.00006
|
NM_001845.6(COL4A1):c.1929T>C (p.Pro643=)
|
rs142883141
|
0.00006
|
NM_001845.6(COL4A1):c.3164C>T (p.Pro1055Leu)
|
rs375787099
|
0.00006
|
NM_001845.6(COL4A1):c.324+20T>C
|
rs764072918
|
0.00006
|
NM_001845.6(COL4A1):c.3561A>G (p.Ser1187=)
|
rs192470284
|
0.00006
|
NM_001845.6(COL4A1):c.3615C>G (p.Ser1205=)
|
rs145903540
|
0.00006
|
NM_001845.6(COL4A1):c.3877-30C>A
|
rs367688295
|
0.00006
|
NM_001845.6(COL4A1):c.4608C>T (p.Ile1536=)
|
rs377100994
|
0.00006
|
NM_001845.6(COL4A1):c.4677C>T (p.Ala1559=)
|
rs374343679
|
0.00006
|
NM_001845.6(COL4A1):c.234+9G>A
|
rs374115295
|
0.00005
|
NM_001845.6(COL4A1):c.2716+16A>G
|
rs767749066
|
0.00005
|
NM_001845.6(COL4A1):c.4045C>T (p.Pro1349Ser)
|
rs761077330
|
0.00005
|
NM_001845.6(COL4A1):c.469-13C>G
|
rs774901853
|
0.00005
|
NM_001845.6(COL4A1):c.4756-14C>T
|
rs375486886
|
0.00005
|
NM_001845.6(COL4A1):c.1108C>T (p.Pro370Ser)
|
rs773419047
|
0.00004
|
NM_001845.6(COL4A1):c.1110C>T (p.Pro370=)
|
rs368143409
|
0.00004
|
NM_001845.6(COL4A1):c.1246C>G (p.Pro416Ala)
|
rs773191976
|
0.00004
|
NM_001845.6(COL4A1):c.1402C>T (p.Leu468Phe)
|
rs757163211
|
0.00004
|
NM_001845.6(COL4A1):c.1420G>A (p.Gly474Arg)
|
rs752346924
|
0.00004
|
NM_001845.6(COL4A1):c.1754G>A (p.Arg585His)
|
rs754034347
|
0.00004
|
NM_001845.6(COL4A1):c.2001C>G (p.Gly667=)
|
rs954535100
|
0.00004
|
NM_001845.6(COL4A1):c.2046C>T (p.Gly682=)
|
rs749164494
|
0.00004
|
NM_001845.6(COL4A1):c.2096-20T>G
|
rs754248236
|
0.00004
|
NM_001845.6(COL4A1):c.2103C>T (p.Asp701=)
|
rs561116319
|
0.00004
|
NM_001845.6(COL4A1):c.2351C>T (p.Pro784Leu)
|
rs372750171
|
0.00004
|
NM_001845.6(COL4A1):c.2490C>T (p.Phe830=)
|
rs750159255
|
0.00004
|
NM_001845.6(COL4A1):c.2704C>T (p.Pro902Ser)
|
rs779350720
|
0.00004
|
NM_001845.6(COL4A1):c.2940C>T (p.Asp980=)
|
rs568279107
|
0.00004
|
NM_001845.6(COL4A1):c.3019C>T (p.Pro1007Ser)
|
rs141418421
|
0.00004
|
NM_001845.6(COL4A1):c.309A>C (p.Gly103=)
|
rs752108960
|
0.00004
|
NM_001845.6(COL4A1):c.3216G>A (p.Ala1072=)
|
rs188620231
|
0.00004
|
NM_001845.6(COL4A1):c.342C>T (p.Asp114=)
|
rs757542907
|
0.00004
|
NM_001845.6(COL4A1):c.3743-15C>T
|
rs375583789
|
0.00004
|
NM_001845.6(COL4A1):c.3997G>A (p.Asp1333Asn)
|
rs141395813
|
0.00004
|
NM_001845.6(COL4A1):c.4010C>T (p.Pro1337Leu)
|
rs189728415
|
0.00004
|
NM_001845.6(COL4A1):c.4038T>C (p.Pro1346=)
|
rs372556002
|
0.00004
|
NM_001845.6(COL4A1):c.4071G>A (p.Gly1357=)
|
rs769532281
|
0.00004
|
NM_001845.6(COL4A1):c.429C>T (p.Phe143=)
|
rs774650505
|
0.00004
|
NM_001845.6(COL4A1):c.441C>T (p.Pro147=)
|
rs201812821
|
0.00004
|
NM_001845.6(COL4A1):c.4640+3G>T
|
rs770167198
|
0.00004
|
NM_001845.6(COL4A1):c.4659G>A (p.Ala1553=)
|
rs141072338
|
0.00004
|
NM_001845.6(COL4A1):c.4824T>C (p.Phe1608=)
|
rs140661222
|
0.00004
|
NM_001845.6(COL4A1):c.56A>T (p.His19Leu)
|
rs1456821193
|
0.00004
|
NM_001845.6(COL4A1):c.762C>T (p.Phe254=)
|
rs145029443
|
0.00004
|
NM_001845.6(COL4A1):c.858+4A>T
|
rs916106593
|
0.00004
|
NM_001845.6(COL4A1):c.1000-8C>T
|
rs199822852
|
0.00003
|
NM_001845.6(COL4A1):c.1055C>T (p.Pro352Leu)
|
rs200786329
|
0.00003
|
NM_001845.6(COL4A1):c.1382-16G>C
|
rs1473270325
|
0.00003
|
NM_001845.6(COL4A1):c.1426C>T (p.Arg476Trp)
|
rs369960952
|
0.00003
|
NM_001845.6(COL4A1):c.1465+14G>A
|
rs778949191
|
0.00003
|
NM_001845.6(COL4A1):c.1613G>A (p.Arg538Gln)
|
rs147361934
|
0.00003
|
NM_001845.6(COL4A1):c.1885C>G (p.Pro629Ala)
|
rs769408707
|
0.00003
|
NM_001845.6(COL4A1):c.2147C>T (p.Pro716Leu)
|
rs199961869
|
0.00003
|
NM_001845.6(COL4A1):c.2216C>T (p.Pro739Leu)
|
rs778390847
|
0.00003
|
NM_001845.6(COL4A1):c.2333A>G (p.Gln778Arg)
|
rs750620293
|
0.00003
|
NM_001845.6(COL4A1):c.2448G>A (p.Pro816=)
|
rs144401828
|
0.00003
|
NM_001845.6(COL4A1):c.2862A>G (p.Gly954=)
|
rs373590636
|
0.00003
|
NM_001845.6(COL4A1):c.3144G>T (p.Glu1048Asp)
|
rs368949397
|
0.00003
|
NM_001845.6(COL4A1):c.3285C>T (p.Ser1095=)
|
rs267603751
|
0.00003
|
NM_001845.6(COL4A1):c.3431C>G (p.Thr1144Arg)
|
rs769021800
|
0.00003
|
NM_001845.6(COL4A1):c.3591C>T (p.Ala1197=)
|
rs768381482
|
0.00003
|
NM_001845.6(COL4A1):c.3899T>C (p.Ile1300Thr)
|
rs758276496
|
0.00003
|
NM_001845.6(COL4A1):c.4022-12C>T
|
rs749099291
|
0.00003
|
NM_001845.6(COL4A1):c.4029G>A (p.Pro1343=)
|
rs540983592
|
0.00003
|
NM_001845.6(COL4A1):c.430G>A (p.Ala144Thr)
|
rs778175625
|
0.00003
|
NM_001845.6(COL4A1):c.4332C>T (p.His1444=)
|
rs756069308
|
0.00003
|
NM_001845.6(COL4A1):c.4407C>T (p.His1469=)
|
rs149068853
|
0.00003
|
NM_001845.6(COL4A1):c.4706C>T (p.Pro1569Leu)
|
rs75885959
|
0.00003
|
NM_001845.6(COL4A1):c.4929-9G>A
|
rs756038842
|
0.00003
|
NM_001845.6(COL4A1):c.859-8_859del
|
rs1360123079
|
0.00003
|
NM_001845.6(COL4A1):c.867C>T (p.Pro289=)
|
rs144143608
|
0.00003
|
NM_001845.6(COL4A1):c.922G>A (p.Gly308Arg)
|
rs370677625
|
0.00003
|
NM_001845.6(COL4A1):c.994G>C (p.Gly332Arg)
|
rs150182714
|
0.00003
|
NM_001845.6(COL4A1):c.1056G>A (p.Pro352=)
|
rs531373470
|
0.00002
|
NM_001845.6(COL4A1):c.1084+14C>A
|
rs779982115
|
0.00002
|
NM_001845.6(COL4A1):c.1239G>A (p.Pro413=)
|
rs572045661
|
0.00002
|
NM_001845.6(COL4A1):c.1495G>A (p.Asp499Asn)
|
rs773778552
|
0.00002
|
NM_001845.6(COL4A1):c.1656C>T (p.Pro552=)
|
rs576690537
|
0.00002
|
NM_001845.6(COL4A1):c.1729G>C (p.Gly577Arg)
|
rs752009614
|
0.00002
|
NM_001845.6(COL4A1):c.1804C>T (p.Pro602Ser)
|
rs769247289
|
0.00002
|
NM_001845.6(COL4A1):c.1807C>T (p.Pro603Ser)
|
rs747585517
|
0.00002
|
NM_001845.6(COL4A1):c.1847A>G (p.Asp616Gly)
|
rs756221734
|
0.00002
|
NM_001845.6(COL4A1):c.1897+7C>G
|
rs773791331
|
0.00002
|
NM_001845.6(COL4A1):c.196C>A (p.Gln66Lys)
|
rs751220553
|
0.00002
|
NM_001845.6(COL4A1):c.1990+4C>T
|
rs771634502
|
0.00002
|
NM_001845.6(COL4A1):c.2028C>A (p.Gly676=)
|
rs778947922
|
0.00002
|
NM_001845.6(COL4A1):c.204T>A (p.Pro68=)
|
rs370425696
|
0.00002
|
NM_001845.6(COL4A1):c.2232G>T (p.Leu744Phe)
|
rs368539530
|
0.00002
|
NM_001845.6(COL4A1):c.2244C>T (p.Pro748=)
|
rs755340790
|
0.00002
|
NM_001845.6(COL4A1):c.2262C>T (p.Pro754=)
|
rs750538499
|
0.00002
|
NM_001845.6(COL4A1):c.2284G>A (p.Val762Ile)
|
rs775341305
|
0.00002
|
NM_001845.6(COL4A1):c.2313G>A (p.Ala771=)
|
rs781701888
|
0.00002
|
NM_001845.6(COL4A1):c.2397A>G (p.Pro799=)
|
rs1274572221
|
0.00002
|
NM_001845.6(COL4A1):c.2571G>A (p.Ser857=)
|
rs376513801
|
0.00002
|
NM_001845.6(COL4A1):c.2716+17C>T
|
rs564267894
|
0.00002
|
NM_001845.6(COL4A1):c.2968+3A>G
|
rs1455733602
|
0.00002
|
NM_001845.6(COL4A1):c.3097C>T (p.Pro1033Ser)
|
rs373131870
|
0.00002
|
NM_001845.6(COL4A1):c.3198+17G>A
|
rs191628245
|
0.00002
|
NM_001845.6(COL4A1):c.324C>A (p.Pro108=)
|
rs61759487
|
0.00002
|
NM_001845.6(COL4A1):c.348G>A (p.Pro116=)
|
rs760602242
|
0.00002
|
NM_001845.6(COL4A1):c.3671C>T (p.Pro1224Leu)
|
rs775810147
|
0.00002
|
NM_001845.6(COL4A1):c.3831C>T (p.Pro1277=)
|
rs779198670
|
0.00002
|
NM_001845.6(COL4A1):c.3950-18C>G
|
rs760245108
|
0.00002
|
NM_001845.6(COL4A1):c.4134C>A (p.Gly1378=)
|
rs1250683195
|
0.00002
|
NM_001845.6(COL4A1):c.442-10T>C
|
rs1400870120
|
0.00002
|
NM_001845.6(COL4A1):c.4425C>T (p.Tyr1475=)
|
rs772482135
|
0.00002
|
NM_001845.6(COL4A1):c.4839C>T (p.Phe1613=)
|
rs987149771
|
0.00002
|
NM_001845.6(COL4A1):c.4929-10C>T
|
rs369534245
|
0.00002
|
NM_001845.6(COL4A1):c.4970C>T (p.Thr1657Met)
|
rs779139113
|
0.00002
|
NM_001845.6(COL4A1):c.532C>T (p.Pro178Ser)
|
rs777678272
|
0.00002
|
NM_001845.6(COL4A1):c.651+16del
|
rs776138958
|
0.00002
|
NM_001845.6(COL4A1):c.694-13T>G
|
rs1324574151
|
0.00002
|
NM_001845.6(COL4A1):c.694-5G>A
|
rs762644478
|
0.00002
|
NM_001845.6(COL4A1):c.852A>G (p.Gly284=)
|
rs1440967031
|
0.00002
|
NM_001845.6(COL4A1):c.957+6C>T
|
rs754165294
|
0.00002
|
NM_001845.6(COL4A1):c.999+19C>T
|
rs150363767
|
0.00002
|
NM_001845.6(COL4A1):c.1091C>T (p.Pro364Leu)
|
rs755483519
|
0.00001
|
NM_001845.6(COL4A1):c.1121-17C>T
|
rs753949151
|
0.00001
|
NM_001845.6(COL4A1):c.1142C>T (p.Ala381Val)
|
rs1200679947
|
0.00001
|
NM_001845.6(COL4A1):c.115T>C (p.Cys39Arg)
|
rs1476577463
|
0.00001
|
NM_001845.6(COL4A1):c.1226G>A (p.Arg409Lys)
|
rs747707990
|
0.00001
|
NM_001845.6(COL4A1):c.1238C>T (p.Pro413Leu)
|
rs758969549
|
0.00001
|
NM_001845.6(COL4A1):c.1270C>A (p.Gln424Lys)
|
rs199622845
|
0.00001
|
NM_001845.6(COL4A1):c.13C>T (p.Leu5Phe)
|
rs1466736813
|
0.00001
|
NM_001845.6(COL4A1):c.144+6T>G
|
rs1470875848
|
0.00001
|
NM_001845.6(COL4A1):c.145-5T>C
|
rs749251030
|
0.00001
|
NM_001845.6(COL4A1):c.1461A>G (p.Glu487=)
|
rs1878700909
|
0.00001
|
NM_001845.6(COL4A1):c.1466-18C>T
|
rs777144964
|
0.00001
|
NM_001845.6(COL4A1):c.1466-8C>T
|
rs370479261
|
0.00001
|
NM_001845.6(COL4A1):c.1536+568C>T
|
rs1878631993
|
0.00001
|
NM_001845.6(COL4A1):c.1672G>A (p.Ala558Thr)
|
rs1878441079
|
0.00001
|
NM_001845.6(COL4A1):c.1673C>T (p.Ala558Val)
|
rs200252122
|
0.00001
|
NM_001845.6(COL4A1):c.1702G>T (p.Gly568Cys)
|
rs375477517
|
0.00001
|
NM_001845.6(COL4A1):c.1704T>G (p.Gly568=)
|
rs1276637254
|
0.00001
|
NM_001845.6(COL4A1):c.1772T>C (p.Val591Ala)
|
rs759892475
|
0.00001
|
NM_001845.6(COL4A1):c.1869T>C (p.Pro623=)
|
rs774022034
|
0.00001
|
NM_001845.6(COL4A1):c.1887A>G (p.Pro629=)
|
rs201109030
|
0.00001
|
NM_001845.6(COL4A1):c.1990+7T>C
|
rs773725275
|
0.00001
|
NM_001845.6(COL4A1):c.2080C>T (p.Pro694Ser)
|
rs760462654
|
0.00001
|
NM_001845.6(COL4A1):c.2095+7C>G
|
rs886049961
|
0.00001
|
NM_001845.6(COL4A1):c.2199G>A (p.Glu733=)
|
rs371514041
|
0.00001
|
NM_001845.6(COL4A1):c.2201C>G (p.Pro734Arg)
|
rs527530568
|
0.00001
|
NM_001845.6(COL4A1):c.2214A>G (p.Leu738=)
|
rs745425109
|
0.00001
|
NM_001845.6(COL4A1):c.2248A>G (p.Ile750Val)
|
rs1199996506
|
0.00001
|
NM_001845.6(COL4A1):c.2314A>T (p.Ile772Phe)
|
rs755499333
|
0.00001
|
NM_001845.6(COL4A1):c.234+7A>G
|
rs1339538900
|
0.00001
|
NM_001845.6(COL4A1):c.2344+11G>A
|
rs886049960
|
0.00001
|
NM_001845.6(COL4A1):c.2344+12C>A
|
rs373696600
|
0.00001
|
NM_001845.6(COL4A1):c.2458+2T>C
|
rs1436175370
|
0.00001
|
NM_001845.6(COL4A1):c.2516C>T (p.Pro839Leu)
|
rs763434858
|
0.00001
|
NM_001845.6(COL4A1):c.2517G>A (p.Pro839=)
|
rs773443475
|
0.00001
|
NM_001845.6(COL4A1):c.2531A>T (p.Asp844Val)
|
rs368902134
|
0.00001
|
NM_001845.6(COL4A1):c.2556C>T (p.Gly852=)
|
rs1474061940
|
0.00001
|
NM_001845.6(COL4A1):c.2659C>T (p.Pro887Ser)
|
rs1055161168
|
0.00001
|
NM_001845.6(COL4A1):c.2695C>T (p.Pro899Ser)
|
rs1430850146
|
0.00001
|
NM_001845.6(COL4A1):c.2706G>A (p.Pro902=)
|
rs754208625
|
0.00001
|
NM_001845.6(COL4A1):c.2716+7G>T
|
rs1314153189
|
0.00001
|
NM_001845.6(COL4A1):c.2716+9G>C
|
rs756352312
|
0.00001
|
NM_001845.6(COL4A1):c.2717-3dup
|
rs748685515
|
0.00001
|
NM_001845.6(COL4A1):c.2732C>T (p.Pro911Leu)
|
rs778143775
|
0.00001
|
NM_001845.6(COL4A1):c.2823G>A (p.Val941=)
|
rs776485429
|
0.00001
|
NM_001845.6(COL4A1):c.2985A>G (p.Pro995=)
|
rs200504781
|
0.00001
|
NM_001845.6(COL4A1):c.3008C>T (p.Ala1003Val)
|
rs551365970
|
0.00001
|
NM_001845.6(COL4A1):c.3021G>A (p.Pro1007=)
|
rs148308759
|
0.00001
|
NM_001845.6(COL4A1):c.3054G>A (p.Leu1018=)
|
rs149543327
|
0.00001
|
NM_001845.6(COL4A1):c.3161C>T (p.Pro1054Leu)
|
rs758076661
|
0.00001
|
NM_001845.6(COL4A1):c.3178C>G (p.Pro1060Ala)
|
rs886044336
|
0.00001
|
NM_001845.6(COL4A1):c.3187C>T (p.Arg1063Ter)
|
rs1877827904
|
0.00001
|
NM_001845.6(COL4A1):c.3188G>A (p.Arg1063Gln)
|
rs755532903
|
0.00001
|
NM_001845.6(COL4A1):c.3223C>T (p.Pro1075Ser)
|
rs780691085
|
0.00001
|
NM_001845.6(COL4A1):c.324+16G>A
|
rs770236988
|
0.00001
|
NM_001845.6(COL4A1):c.3243G>A (p.Lys1081=)
|
rs934953832
|
0.00001
|
NM_001845.6(COL4A1):c.325-11C>A
|
rs1253703820
|
0.00001
|
NM_001845.6(COL4A1):c.3267C>T (p.Ile1089=)
|
rs1480113512
|
0.00001
|
NM_001845.6(COL4A1):c.3274A>G (p.Met1092Val)
|
rs757670001
|
0.00001
|
NM_001845.6(COL4A1):c.3325+10G>A
|
rs761475364
|
0.00001
|
NM_001845.6(COL4A1):c.3329G>T (p.Ser1110Ile)
|
rs774198019
|
0.00001
|
NM_001845.6(COL4A1):c.3341C>T (p.Pro1114Leu)
|
rs369538377
|
0.00001
|
NM_001845.6(COL4A1):c.338A>G (p.Gln113Arg)
|
rs779129339
|
0.00001
|
NM_001845.6(COL4A1):c.3492G>A (p.Glu1164=)
|
rs182418518
|
0.00001
|
NM_001845.6(COL4A1):c.3505+4del
|
rs749942977
|
0.00001
|
NM_001845.6(COL4A1):c.351A>C (p.Pro117=)
|
rs1566378803
|
0.00001
|
NM_001845.6(COL4A1):c.3556+11C>T
|
rs1405725836
|
0.00001
|
NM_001845.6(COL4A1):c.3581C>T (p.Pro1194Leu)
|
rs372606485
|
0.00001
|
NM_001845.6(COL4A1):c.3662C>T (p.Pro1221Leu)
|
rs761859503
|
0.00001
|
NM_001845.6(COL4A1):c.3704A>G (p.Lys1235Arg)
|
rs781655700
|
0.00001
|
NM_001845.6(COL4A1):c.3713G>A (p.Arg1238His)
|
rs146598127
|
0.00001
|
NM_001845.6(COL4A1):c.3832G>A (p.Gly1278Ser)
|
rs757453900
|
0.00001
|
NM_001845.6(COL4A1):c.38C>T (p.Pro13Leu)
|
rs1031870898
|
0.00001
|
NM_001845.6(COL4A1):c.3915T>G (p.Gly1305=)
|
rs1396040382
|
0.00001
|
NM_001845.6(COL4A1):c.3917A>T (p.Asp1306Val)
|
rs1024592088
|
0.00001
|
NM_001845.6(COL4A1):c.4021+18T>G
|
rs766901017
|
0.00001
|
NM_001845.6(COL4A1):c.4021+3A>G
|
rs778888804
|
0.00001
|
NM_001845.6(COL4A1):c.409C>T (p.Pro137Ser)
|
rs148290885
|
0.00001
|
NM_001845.6(COL4A1):c.4166T>C (p.Val1389Ala)
|
rs1357289362
|
0.00001
|
NM_001845.6(COL4A1):c.4204G>A (p.Gly1402Ser)
|
rs1179536054
|
0.00001
|
NM_001845.6(COL4A1):c.4249+9C>T
|
rs186028417
|
0.00001
|
NM_001845.6(COL4A1):c.4271C>T (p.Pro1424Leu)
|
rs760889798
|
0.00001
|
NM_001845.6(COL4A1):c.4305G>T (p.Gly1435=)
|
rs376372101
|
0.00001
|
NM_001845.6(COL4A1):c.4333G>A (p.Gly1445Ser)
|
rs752572653
|
0.00001
|
NM_001845.6(COL4A1):c.4388G>A (p.Gly1463Glu)
|
rs1057518459
|
0.00001
|
NM_001845.6(COL4A1):c.43G>A (p.Ala15Thr)
|
rs991189007
|
0.00001
|
NM_001845.6(COL4A1):c.441+1G>A
|
rs1445318211
|
0.00001
|
NM_001845.6(COL4A1):c.4410G>A (p.Gly1470=)
|
rs747551299
|
0.00001
|
NM_001845.6(COL4A1):c.4423T>C (p.Tyr1475His)
|
rs775952266
|
0.00001
|
NM_001845.6(COL4A1):c.4462+3A>G
|
rs201116557
|
0.00001
|
NM_001845.6(COL4A1):c.4462+8G>A
|
rs752734207
|
0.00001
|
NM_001845.6(COL4A1):c.4560G>A (p.Ser1520=)
|
rs773639086
|
0.00001
|
NM_001845.6(COL4A1):c.4640+14C>T
|
rs376675522
|
0.00001
|
NM_001845.6(COL4A1):c.4707G>A (p.Pro1569=)
|
rs764244883
|
0.00001
|
NM_001845.6(COL4A1):c.4717G>A (p.Gly1573Arg)
|
rs759600848
|
0.00001
|
NM_001845.6(COL4A1):c.4728G>A (p.Ser1576=)
|
rs552846696
|
0.00001
|
NM_001845.6(COL4A1):c.4756C>T (p.His1586Tyr)
|
rs1876551770
|
0.00001
|
NM_001845.6(COL4A1):c.4769G>C (p.Gly1590Ala)
|
rs778082936
|
0.00001
|
NM_001845.6(COL4A1):c.4785C>T (p.Gly1595=)
|
rs753054366
|
0.00001
|
NM_001845.6(COL4A1):c.4796C>T (p.Ala1599Val)
|
rs766472965
|
0.00001
|
NM_001845.6(COL4A1):c.4803C>T (p.Pro1601=)
|
rs190097900
|
0.00001
|
NM_001845.6(COL4A1):c.4851C>T (p.His1617=)
|
rs748558670
|
0.00001
|
NM_001845.6(COL4A1):c.4856G>A (p.Arg1619His)
|
rs747250117
|
0.00001
|
NM_001845.6(COL4A1):c.4881C>T (p.Asn1627=)
|
rs672601348
|
0.00001
|
NM_001845.6(COL4A1):c.4888A>T (p.Ser1630Cys)
|
rs1185307528
|
0.00001
|
NM_001845.6(COL4A1):c.4903A>G (p.Thr1635Ala)
|
rs1876540287
|
0.00001
|
NM_001845.6(COL4A1):c.4940C>T (p.Pro1647Leu)
|
rs201767532
|
0.00001
|
NM_001845.6(COL4A1):c.4967G>A (p.Arg1656His)
|
rs756403856
|
0.00001
|
NM_001845.6(COL4A1):c.4971G>A (p.Thr1657=)
|
rs139917163
|
0.00001
|
NM_001845.6(COL4A1):c.504G>A (p.Gly168=)
|
rs539633643
|
0.00001
|
NM_001845.6(COL4A1):c.518G>A (p.Gly173Asp)
|
rs567124920
|
0.00001
|
NM_001845.6(COL4A1):c.548C>A (p.Thr183Asn)
|
rs926037766
|
0.00001
|
NM_001845.6(COL4A1):c.553-10T>C
|
rs370673476
|
0.00001
|
NM_001845.6(COL4A1):c.591G>A (p.Gly197=)
|
rs962794235
|
0.00001
|
NM_001845.6(COL4A1):c.615+16T>C
|
rs1470589239
|
0.00001
|
NM_001845.6(COL4A1):c.651+13T>C
|
rs374764313
|
0.00001
|
NM_001845.6(COL4A1):c.651+16A>C
|
rs1566376043
|
0.00001
|
NM_001845.6(COL4A1):c.771G>A (p.Lys257=)
|
rs757482570
|
0.00001
|
NM_001845.6(COL4A1):c.781-15C>G
|
rs374238056
|
0.00001
|
NM_001845.6(COL4A1):c.808-13T>G
|
rs529629733
|
0.00001
|
NM_001845.6(COL4A1):c.808-18T>C
|
rs1231816571
|
0.00001
|
NM_001845.6(COL4A1):c.85-7C>T
|
rs1049817298
|
0.00001
|
NM_001845.6(COL4A1):c.900T>A (p.Ser300Arg)
|
rs370338256
|
0.00001
|
NM_001845.6(COL4A1):c.904G>A (p.Gly302Ser)
|
rs144795487
|
0.00001
|
GRCh37/hg19 13q34(chr13:110828771-110831768)x1
|
|
|
NC_000013.10:g.(?_110839465)_(110855974_?)del
|
|
|
NC_000013.11:g.(?_110150363)_(110307027_?)dup
|
|
|
NC_000013.11:g.(?_110306924)_(110307047_?)dup
|
|
|
NC_000013.11:g.110212480del
|
|
|
NM_001845.6(COL4A1):c.*31G>A
|
|
|
NM_001845.6(COL4A1):c.*31G>C
|
rs2138415342
|
|
NM_001845.6(COL4A1):c.*32G>T
|
rs1876439052
|
|
NM_001845.6(COL4A1):c.*35del
|
|
|
NM_001845.6(COL4A1):c.-31_74del (p.Met1_Ala25del)
|
|
|
NM_001845.6(COL4A1):c.-90G>A
|
rs113651836
|
|
NM_001845.6(COL4A1):c.1000-19C>G
|
|
|
NM_001845.6(COL4A1):c.1000-2A>G
|
|
|
NM_001845.6(COL4A1):c.1000-7G>A
|
|
|
NM_001845.6(COL4A1):c.1000-7G>C
|
|
|
NM_001845.6(COL4A1):c.1000-7G>T
|
rs762670280
|
|
NM_001845.6(COL4A1):c.1000G>T (p.Val334Phe)
|
|
|
NM_001845.6(COL4A1):c.1010C>T (p.Thr337Ile)
|
|
|
NM_001845.6(COL4A1):c.1019T>C (p.Leu340Ser)
|
rs2139191610
|
|
NM_001845.6(COL4A1):c.101C>G (p.Ser34Cys)
|
|
|
NM_001845.6(COL4A1):c.101C>T (p.Ser34Phe)
|
|
|
NM_001845.6(COL4A1):c.1021G>C (p.Gly341Arg)
|
|
|
NM_001845.6(COL4A1):c.1022G>C (p.Gly341Ala)
|
|
|
NM_001845.6(COL4A1):c.1025A>T (p.Glu342Val)
|
|
|
NM_001845.6(COL4A1):c.1034A>T (p.Glu345Val)
|
|
|
NM_001845.6(COL4A1):c.1040G>T (p.Gly347Val)
|
rs1566370178
|
|
NM_001845.6(COL4A1):c.1042T>C (p.Tyr348His)
|
|
|
NM_001845.6(COL4A1):c.1052dup (p.Pro352fs)
|
rs1555305682
|
|
NM_001845.6(COL4A1):c.1056_1073dup (p.Arg355_Pro360dup)
|
rs2139191527
|
|
NM_001845.6(COL4A1):c.1059G>A (p.Gly353=)
|
|
|
NM_001845.6(COL4A1):c.1065A>G (p.Arg355=)
|
rs1594575843
|
|
NM_001845.6(COL4A1):c.1076G>T (p.Gly359Val)
|
|
|
NM_001845.6(COL4A1):c.1084+137G>T
|
rs116447150
|
|
NM_001845.6(COL4A1):c.1084+20C>A
|
|
|
NM_001845.6(COL4A1):c.1084+20C>T
|
rs756740376
|
|
NM_001845.6(COL4A1):c.1084+5C>T
|
rs74508743
|
|
NM_001845.6(COL4A1):c.1085-12T>G
|
rs2139190285
|
|
NM_001845.6(COL4A1):c.1085-12_1085-9del
|
rs762898342
|
|
NM_001845.6(COL4A1):c.1085-16C>G
|
|
|
NM_001845.6(COL4A1):c.1085-16C>T
|
|
|
NM_001845.6(COL4A1):c.1085-18C>T
|
|
|
NM_001845.6(COL4A1):c.1085-19A>T
|
|
|
NM_001845.6(COL4A1):c.1085-20C>G
|
|
|
NM_001845.6(COL4A1):c.1085-2A>G
|
rs1555305593
|
|
NM_001845.6(COL4A1):c.1085-4T>C
|
|
|
NM_001845.6(COL4A1):c.1085G>A (p.Gly362Asp)
|
rs2139190267
|
|
NM_001845.6(COL4A1):c.1092A>G (p.Pro364=)
|
|
|
NM_001845.6(COL4A1):c.1092A>T (p.Pro364=)
|
rs141208458
|
|
NM_001845.6(COL4A1):c.10C>T (p.Arg4Trp)
|
|
|
NM_001845.6(COL4A1):c.1103G>A (p.Gly368Asp)
|
|
|
NM_001845.6(COL4A1):c.1107A>C (p.Gln369His)
|
|
|
NM_001845.6(COL4A1):c.1113A>G (p.Gly371=)
|
|
|
NM_001845.6(COL4A1):c.1115C>T (p.Pro372Leu)
|
|
|
NM_001845.6(COL4A1):c.1120+17G>T
|
|
|
NM_001845.6(COL4A1):c.1121-12G>A
|
|
|
NM_001845.6(COL4A1):c.1121-13T>C
|
|
|
NM_001845.6(COL4A1):c.1121-210T>C
|
rs7318502
|
|
NM_001845.6(COL4A1):c.1121-4G>T
|
|
|
NM_001845.6(COL4A1):c.1127C>T (p.Pro376Leu)
|
|
|
NM_001845.6(COL4A1):c.1129G>A (p.Val377Ile)
|
rs2139187481
|
|
NM_001845.6(COL4A1):c.1137G>A (p.Gly379=)
|
|
|
NM_001845.6(COL4A1):c.1145G>A (p.Gly382Asp)
|
rs2139187455
|
|
NM_001845.6(COL4A1):c.1174G>C (p.Glu392Gln)
|
|
|
NM_001845.6(COL4A1):c.1175A>G (p.Glu392Gly)
|
|
|
NM_001845.6(COL4A1):c.117T>C (p.Cys39=)
|
|
|
NM_001845.6(COL4A1):c.1191A>G (p.Gly397=)
|
|
|
NM_001845.6(COL4A1):c.1194T>C (p.Phe398=)
|
|
|
NM_001845.6(COL4A1):c.119A>T (p.Asp40Val)
|
|
|
NM_001845.6(COL4A1):c.11G>C (p.Arg4Pro)
|
|
|
NM_001845.6(COL4A1):c.1202C>T (p.Thr401Ile)
|
|
|
NM_001845.6(COL4A1):c.1212A>G (p.Pro404=)
|
|
|
NM_001845.6(COL4A1):c.1220G>A (p.Ser407Asn)
|
|
|
NM_001845.6(COL4A1):c.1236C>G (p.Leu412=)
|
|
|
NM_001845.6(COL4A1):c.1236C>T (p.Leu412=)
|
|
|
NM_001845.6(COL4A1):c.1242T>A (p.Gly414=)
|
rs2139187307
|
|
NM_001845.6(COL4A1):c.1257_1258inv (p.Gly420Arg)
|
|
|
NM_001845.6(COL4A1):c.125A>G (p.His42Arg)
|
|
|
NM_001845.6(COL4A1):c.1261C>T (p.Pro421Ser)
|
|
|
NM_001845.6(COL4A1):c.1263C>T (p.Pro421=)
|
|
|
NM_001845.6(COL4A1):c.1264C>A (p.Pro422Thr)
|
|
|
NM_001845.6(COL4A1):c.1264C>T (p.Pro422Ser)
|
|
|
NM_001845.6(COL4A1):c.1266T>G (p.Pro422=)
|
|
|
NM_001845.6(COL4A1):c.1272G>A (p.Gln424=)
|
rs1338800071
|
|
NM_001845.6(COL4A1):c.1273C>T (p.Pro425Ser)
|
|
|
NM_001845.6(COL4A1):c.1278C>G (p.Gly426=)
|
rs770791698
|
|
NM_001845.6(COL4A1):c.1278C>T (p.Gly426=)
|
|
|
NM_001845.6(COL4A1):c.1279T>G (p.Tyr427Asp)
|
|
|
NM_001845.6(COL4A1):c.1285+32G>T
|
|
|
NM_001845.6(COL4A1):c.1285+3del
|
rs2139187206
|
|
NM_001845.6(COL4A1):c.136G>A (p.Gly46Arg)
|
|
|
NM_001845.6(COL4A1):c.1382-2A>G
|
rs758420618
|
|
NM_001845.6(COL4A1):c.1391G>A (p.Gly464Glu)
|
|
|
NM_001845.6(COL4A1):c.1397G>A (p.Ser466Asn)
|
|
|
NM_001845.6(COL4A1):c.1412A>C (p.Asp471Ala)
|
|
|
NM_001845.6(COL4A1):c.1417G>A (p.Asp473Asn)
|
|
|
NM_001845.6(COL4A1):c.1418A>G (p.Asp473Gly)
|
|
|
NM_001845.6(COL4A1):c.1425T>C (p.Tyr475=)
|
rs1594566831
|
|
NM_001845.6(COL4A1):c.1432C>T (p.Pro478Ser)
|
rs2139180090
|
|
NM_001845.6(COL4A1):c.1438G>A (p.Gly480Arg)
|
rs1461754052
|
|
NM_001845.6(COL4A1):c.143A>C (p.Lys48Thr)
|
rs1594082548
|
|
NM_001845.6(COL4A1):c.144+10C>T
|
|
|
NM_001845.6(COL4A1):c.144+11G>A
|
|
|
NM_001845.6(COL4A1):c.144+291C>T
|
rs546726924
|
|
NM_001845.6(COL4A1):c.144+5206C>A
|
|
|
NM_001845.6(COL4A1):c.144+5206C>T
|
|
|
NM_001845.6(COL4A1):c.144+9C>T
|
|
|
NM_001845.6(COL4A1):c.145-11C>G
|
|
|
NM_001845.6(COL4A1):c.145-15G>T
|
|
|
NM_001845.6(COL4A1):c.145-42_145-19del
|
rs2139207416
|
|
NM_001845.6(COL4A1):c.145-4G>A
|
|
|
NM_001845.6(COL4A1):c.145-8T>C
|
|
|
NM_001845.6(COL4A1):c.145-90_145-89insTAT
|
rs146035833
|
|
NM_001845.6(COL4A1):c.1450C>G (p.Pro484Ala)
|
|
|
NM_001845.6(COL4A1):c.1450C>T (p.Pro484Ser)
|
|
|
NM_001845.6(COL4A1):c.1451C>A (p.Pro484His)
|
|
|
NM_001845.6(COL4A1):c.1453C>T (p.Pro485Ser)
|
rs747214508
|
|
NM_001845.6(COL4A1):c.1455G>A (p.Pro485=)
|
|
|
NM_001845.6(COL4A1):c.1463T>C (p.Ile488Thr)
|
|
|
NM_001845.6(COL4A1):c.1465+100G>A
|
rs7337040
|
|
NM_001845.6(COL4A1):c.1465+12A>G
|
|
|
NM_001845.6(COL4A1):c.1465+181T>C
|
rs9515163
|
|
NM_001845.6(COL4A1):c.1465+3A>G
|
|
|
NM_001845.6(COL4A1):c.1465+7C>A
|
rs2139179990
|
|
NM_001845.6(COL4A1):c.1466-14C>T
|
|
|
NM_001845.6(COL4A1):c.1466-15T>G
|
|
|
NM_001845.6(COL4A1):c.1466-16C>T
|
|
|
NM_001845.6(COL4A1):c.1466-1G>C
|
|
|
NM_001845.6(COL4A1):c.1466-5G>A
|
|
|
NM_001845.6(COL4A1):c.1466-7A>C
|
|
|
NM_001845.6(COL4A1):c.1466-8C>G
|
rs370479261
|
|
NM_001845.6(COL4A1):c.1481C>G (p.Pro494Arg)
|
|
|
NM_001845.6(COL4A1):c.1486G>T (p.Ala496Ser)
|
|
|
NM_001845.6(COL4A1):c.1487C>G (p.Ala496Gly)
|
rs1377162046
|
|
NM_001845.6(COL4A1):c.1493G>A (p.Gly498Asp)
|
rs113994104
|
|
NM_001845.6(COL4A1):c.14T>C (p.Leu5Pro)
|
|
|
NM_001845.6(COL4A1):c.1502G>A (p.Gly501Asp)
|
rs2139179173
|
|
NM_001845.6(COL4A1):c.1509del (p.Gly504fs)
|
rs1594566006
|
|
NM_001845.6(COL4A1):c.1522G>A (p.Val508Ile)
|
|
|
NM_001845.6(COL4A1):c.1536+13G>A
|
|
|
NM_001845.6(COL4A1):c.1536+557T>C
|
|
|
NM_001845.6(COL4A1):c.1536+8_1536+9delinsCC
|
|
|
NM_001845.6(COL4A1):c.1536A>G (p.Pro512=)
|
|
|
NM_001845.6(COL4A1):c.1536A>T (p.Pro512=)
|
|
|
NM_001845.6(COL4A1):c.1536del (p.Gly513fs)
|
|
|
NM_001845.6(COL4A1):c.1537-12T>C
|
|
|
NM_001845.6(COL4A1):c.1537-14C>G
|
|
|
NM_001845.6(COL4A1):c.1537-14C>T
|
|
|
NM_001845.6(COL4A1):c.1537-19C>T
|
rs773525147
|
|
NM_001845.6(COL4A1):c.1537-5T>C
|
|
|
NM_001845.6(COL4A1):c.1539C>T (p.Gly513=)
|
|
|
NM_001845.6(COL4A1):c.1540C>A (p.Pro514Thr)
|
|
|
NM_001845.6(COL4A1):c.1540C>T (p.Pro514Ser)
|
|
|
NM_001845.6(COL4A1):c.1541C>T (p.Pro514Leu)
|
rs1235407477
|
|
NM_001845.6(COL4A1):c.1545A>G (p.Gln515=)
|
rs144950610
|
|
NM_001845.6(COL4A1):c.1547G>A (p.Gly516Asp)
|
|
|
NM_001845.6(COL4A1):c.1550C>A (p.Thr517Lys)
|
rs1269728194
|
|
NM_001845.6(COL4A1):c.1550C>T (p.Thr517Ile)
|
rs1269728194
|
|
NM_001845.6(COL4A1):c.1551A>G (p.Thr517=)
|
rs1431558455
|
|
NM_001845.6(COL4A1):c.1552C>T (p.Pro518Ser)
|
rs1476264391
|
|
NM_001845.6(COL4A1):c.155G>T (p.Gly52Val)
|
rs2139207389
|
|
NM_001845.6(COL4A1):c.1560G>A (p.Leu520=)
|
rs767901841
|
|
NM_001845.6(COL4A1):c.1561A>G (p.Ile521Val)
|
rs1386647713
|
|
NM_001845.6(COL4A1):c.1562T>C (p.Ile521Thr)
|
rs759936052
|
|
NM_001845.6(COL4A1):c.1588C>G (p.Pro530Ala)
|
rs145172612
|
|
NM_001845.6(COL4A1):c.1593T>C (p.Gly531=)
|
rs2139174049
|
|
NM_001845.6(COL4A1):c.159C>A (p.Leu53=)
|
|
|
NM_001845.6(COL4A1):c.1605C>A (p.Phe535Leu)
|
|
|
NM_001845.6(COL4A1):c.1605C>T (p.Phe535=)
|
rs139448202
|
|
NM_001845.6(COL4A1):c.1606G>A (p.Asp536Asn)
|
|
|
NM_001845.6(COL4A1):c.160C>T (p.Pro54Ser)
|
|
|
NM_001845.6(COL4A1):c.1611dup (p.Arg538fs)
|
rs2139174027
|
|
NM_001845.6(COL4A1):c.1612C>T (p.Arg538Trp)
|
rs397514624
|
|
NM_001845.6(COL4A1):c.1615C>T (p.Leu539Phe)
|
|
|
NM_001845.6(COL4A1):c.1618A>C (p.Lys540Gln)
|
rs1878444055
|
|
NM_001845.6(COL4A1):c.1618A>G (p.Lys540Glu)
|
rs1878444055
|
|
NM_001845.6(COL4A1):c.1627A>T (p.Lys543Ter)
|
|
|
NM_001845.6(COL4A1):c.1628A>G (p.Lys543Arg)
|
|
|
NM_001845.6(COL4A1):c.162G>A (p.Pro54=)
|
|
|
NM_001845.6(COL4A1):c.1630G>A (p.Gly544Arg)
|
rs1131691834
|
|
NM_001845.6(COL4A1):c.1634A>G (p.Asp545Gly)
|
|
|
NM_001845.6(COL4A1):c.1641C>T (p.Gly547=)
|
|
|
NM_001845.6(COL4A1):c.1647A>G (p.Pro549=)
|
rs2139173982
|
|
NM_001845.6(COL4A1):c.1648G>C (p.Gly550Arg)
|
rs2139173980
|
|
NM_001845.6(COL4A1):c.1657G>A (p.Gly553Ser)
|
|
|
NM_001845.6(COL4A1):c.1663C>A (p.Pro555Thr)
|
|
|
NM_001845.6(COL4A1):c.1671A>G (p.Arg557=)
|
|
|
NM_001845.6(COL4A1):c.1674G>A (p.Ala558=)
|
|
|
NM_001845.6(COL4A1):c.1689A>C (p.Arg563Ser)
|
|
|
NM_001845.6(COL4A1):c.1692T>C (p.Asp564=)
|
|
|
NM_001845.6(COL4A1):c.170A>G (p.Gln57Arg)
|
|
|
NM_001845.6(COL4A1):c.1710T>C (p.Pro570=)
|
|
|
NM_001845.6(COL4A1):c.1714C>T (p.Pro572Ser)
|
|
|
NM_001845.6(COL4A1):c.1718A>G (p.Lys573Arg)
|
|
|
NM_001845.6(COL4A1):c.1720G>A (p.Gly574Ser)
|
|
|
NM_001845.6(COL4A1):c.1721G>T (p.Gly574Val)
|
|
|
NM_001845.6(COL4A1):c.1724C>T (p.Ser575Leu)
|
|
|
NM_001845.6(COL4A1):c.1725G>T (p.Ser575=)
|
rs370332353
|
|
NM_001845.6(COL4A1):c.1727C>T (p.Pro576Leu)
|
|
|
NM_001845.6(COL4A1):c.1728+13C>A
|
rs2139173881
|
|
NM_001845.6(COL4A1):c.1728+14C>T
|
|
|
NM_001845.6(COL4A1):c.1728+3A>C
|
rs1280449918
|
|
NM_001845.6(COL4A1):c.1728+9A>G
|
|
|
NM_001845.6(COL4A1):c.1729-5A>G
|
|
|
NM_001845.6(COL4A1):c.1729-6C>A
|
|
|
NM_001845.6(COL4A1):c.1730G>T (p.Gly577Val)
|
|
|
NM_001845.6(COL4A1):c.1740A>G (p.Gly580=)
|
|
|
NM_001845.6(COL4A1):c.1748G>A (p.Gly583Glu)
|
rs2139173408
|
|
NM_001845.6(COL4A1):c.1752G>T (p.Glu584Asp)
|
rs765423555
|
|
NM_001845.6(COL4A1):c.1758C>A (p.Gly586=)
|
rs1594560899
|
|
NM_001845.6(COL4A1):c.1758C>T (p.Gly586=)
|
|
|
NM_001845.6(COL4A1):c.1759C>G (p.Pro587Ala)
|
|
|
NM_001845.6(COL4A1):c.1759C>T (p.Pro587Ser)
|
|
|
NM_001845.6(COL4A1):c.175G>A (p.Val59Ile)
|
|
|
NM_001845.6(COL4A1):c.1764T>C (p.Pro588=)
|
|
|
NM_001845.6(COL4A1):c.1773T>C (p.Val591=)
|
|
|
NM_001845.6(COL4A1):c.1773T>G (p.Val591=)
|
|
|
NM_001845.6(COL4A1):c.1781C>T (p.Pro594Leu)
|
rs1555304117
|
|
NM_001845.6(COL4A1):c.1789C>T (p.Arg597Cys)
|
rs767374916
|
|
NM_001845.6(COL4A1):c.1790G>A (p.Arg597His)
|
rs369724575
|
|
NM_001845.6(COL4A1):c.1790GTG[1] (p.Gly598del)
|
|
|
NM_001845.6(COL4A1):c.1796A>G (p.Asp599Gly)
|
|
|
NM_001845.6(COL4A1):c.1800C>T (p.Thr600=)
|
|
|
NM_001845.6(COL4A1):c.1801G>A (p.Gly601Ser)
|
rs1064794777
|
|
NM_001845.6(COL4A1):c.1803C>T (p.Gly601=)
|
|
|
NM_001845.6(COL4A1):c.1804C>A (p.Pro602Thr)
|
rs769247289
|
|
NM_001845.6(COL4A1):c.1819G>C (p.Gly607Arg)
|
rs1555304112
|
|
NM_001845.6(COL4A1):c.181_189delinsAGGTTTCCG (p.Gly61Arg)
|
rs2139207338
|
|
NM_001845.6(COL4A1):c.1824T>C (p.Tyr608=)
|
|
|
NM_001845.6(COL4A1):c.1828C>T (p.Pro610Ser)
|
|
|
NM_001845.6(COL4A1):c.1829C>T (p.Pro610Leu)
|
|
|
NM_001845.6(COL4A1):c.1830T>C (p.Pro610=)
|
|
|
NM_001845.6(COL4A1):c.1833T>A (p.Ala611=)
|
|
|
NM_001845.6(COL4A1):c.1833T>C (p.Ala611=)
|
|
|
NM_001845.6(COL4A1):c.1837C>T (p.Pro613Ser)
|
|
|
NM_001845.6(COL4A1):c.1838C>G (p.Pro613Arg)
|
rs146091004
|
|
NM_001845.6(COL4A1):c.1838C>T (p.Pro613Leu)
|
|
|
NM_001845.6(COL4A1):c.1848C>A (p.Asp616Glu)
|
|
|
NM_001845.6(COL4A1):c.1850A>C (p.Lys617Thr)
|
|
|
NM_001845.6(COL4A1):c.1857A>G (p.Gln619=)
|
|
|
NM_001845.6(COL4A1):c.1858G>A (p.Ala620Thr)
|
|
|
NM_001845.6(COL4A1):c.1862G>A (p.Gly621Asp)
|
|
|
NM_001845.6(COL4A1):c.1864_1890dup (p.Gly630_Leu631insPheProGlyGlyProGlySerProGly)
|
rs2139173181
|
|
NM_001845.6(COL4A1):c.1868C>T (p.Pro623Leu)
|
rs1555304107
|
|
NM_001845.6(COL4A1):c.1870G>T (p.Gly624Ter)
|
rs1188823925
|
|
NM_001845.6(COL4A1):c.1875C>T (p.Gly625=)
|
|
|
NM_001845.6(COL4A1):c.1876C>T (p.Pro626Ser)
|
|
|
NM_001845.6(COL4A1):c.1886C>G (p.Pro629Arg)
|
rs2139173188
|
|
NM_001845.6(COL4A1):c.1889G>A (p.Gly630Asp)
|
rs2139173182
|
|
NM_001845.6(COL4A1):c.1890_1897+77del
|
rs2139173063
|
|
NM_001845.6(COL4A1):c.1896A>G (p.Pro632=)
|
|
|
NM_001845.6(COL4A1):c.1897+10G>A
|
|
|
NM_001845.6(COL4A1):c.1897+18C>G
|
rs749550347
|
|
NM_001845.6(COL4A1):c.1897+18C>T
|
|
|
NM_001845.6(COL4A1):c.1897+6G>A
|
|
|
NM_001845.6(COL4A1):c.1898-13T>C
|
|
|
NM_001845.6(COL4A1):c.1898-19T>C
|
|
|
NM_001845.6(COL4A1):c.1898-4C>G
|
|
|
NM_001845.6(COL4A1):c.1898-6C>G
|
|
|
NM_001845.6(COL4A1):c.1898-7C>A
|
|
|
NM_001845.6(COL4A1):c.1900C>T (p.Pro634Ser)
|
rs908568872
|
|
NM_001845.6(COL4A1):c.1905G>C (p.Lys635Asn)
|
|
|
NM_001845.6(COL4A1):c.1927C>G (p.Pro643Ala)
|
|
|
NM_001845.6(COL4A1):c.1928C>G (p.Pro643Arg)
|
|
|
NM_001845.6(COL4A1):c.1937G>C (p.Gly646Ala)
|
|
|
NM_001845.6(COL4A1):c.1938C>T (p.Gly646=)
|
|
|
NM_001845.6(COL4A1):c.193A>G (p.Met65Val)
|
rs2139207332
|
|
NM_001845.6(COL4A1):c.1940C>G (p.Pro647Arg)
|
|
|
NM_001845.6(COL4A1):c.1941C>A (p.Pro647=)
|
|
|
NM_001845.6(COL4A1):c.1942C>G (p.Pro648Ala)
|
|
|
NM_001845.6(COL4A1):c.1943del (p.Pro648fs)
|
|
|
NM_001845.6(COL4A1):c.1945G>A (p.Gly649Arg)
|
rs2139169795
|
|
NM_001845.6(COL4A1):c.1949C>G (p.Ala650Gly)
|
|
|
NM_001845.6(COL4A1):c.1949C>T (p.Ala650Val)
|
|
|
NM_001845.6(COL4A1):c.1952_1954del (p.Glu651del)
|
|
|
NM_001845.6(COL4A1):c.1961C>T (p.Pro654Leu)
|
|
|
NM_001845.6(COL4A1):c.1962G>A (p.Pro654=)
|
|
|
NM_001845.6(COL4A1):c.1962G>C (p.Pro654=)
|
|
|
NM_001845.6(COL4A1):c.1971A>G (p.Pro657=)
|
|
|
NM_001845.6(COL4A1):c.1971_1990+24del
|
rs2139169706
|
|
NM_001845.6(COL4A1):c.1979C>A (p.Pro660Gln)
|
|
|
NM_001845.6(COL4A1):c.197A>G (p.Gln66Arg)
|
|
|
NM_001845.6(COL4A1):c.198A>G (p.Gln66=)
|
|
|
NM_001845.6(COL4A1):c.1990+10G>A
|
|
|
NM_001845.6(COL4A1):c.1990+12A>G
|
|
|
NM_001845.6(COL4A1):c.1990+8T>C
|
|
|
NM_001845.6(COL4A1):c.1991-2A>G
|
rs2139169623
|
|
NM_001845.6(COL4A1):c.1997G>A (p.Arg666Gln)
|
|
|
NM_001845.6(COL4A1):c.2008G>A (p.Gly670Arg)
|
rs1878248687
|
|
NM_001845.6(COL4A1):c.2013C>T (p.Thr671=)
|
|
|
NM_001845.6(COL4A1):c.2022G>C (p.Arg674Ser)
|
|
|
NM_001845.6(COL4A1):c.2022G>T (p.Arg674Ser)
|
|
|
NM_001845.6(COL4A1):c.2024C>T (p.Pro675Leu)
|
|
|
NM_001845.6(COL4A1):c.2036G>A (p.Gly679Glu)
|
rs2139169535
|
|
NM_001845.6(COL4A1):c.2040G>C (p.Glu680Asp)
|
|
|
NM_001845.6(COL4A1):c.2047G>A (p.Ala683Thr)
|
|
|
NM_001845.6(COL4A1):c.2049T>A (p.Ala683=)
|
|
|
NM_001845.6(COL4A1):c.2054G>A (p.Gly685Asp)
|
rs1478344451
|
|
NM_001845.6(COL4A1):c.2065A>G (p.Ile689Val)
|
|
|
NM_001845.6(COL4A1):c.2069G>A (p.Gly690Glu)
|
|
|
NM_001845.6(COL4A1):c.2070A>G (p.Gly690=)
|
|
|
NM_001845.6(COL4A1):c.2077G>C (p.Gly693Arg)
|
|
|
NM_001845.6(COL4A1):c.2081C>T (p.Pro694Leu)
|
|
|
NM_001845.6(COL4A1):c.2082C>A (p.Pro694=)
|
|
|
NM_001845.6(COL4A1):c.2082C>T (p.Pro694=)
|
|
|
NM_001845.6(COL4A1):c.2083C>G (p.Pro695Ala)
|
rs1878244032
|
|
NM_001845.6(COL4A1):c.2086G>A (p.Gly696Ser)
|
rs587780588
|
|
NM_001845.6(COL4A1):c.2089C>T (p.Pro697Ser)
|
|
|
NM_001845.6(COL4A1):c.2095+15C>T
|
|
|
NM_001845.6(COL4A1):c.2095+16G>A
|
|
|
NM_001845.6(COL4A1):c.2095+5C>T
|
|
|
NM_001845.6(COL4A1):c.2095+98C>T
|
rs117494404
|
|
NM_001845.6(COL4A1):c.2096-14A>C
|
|
|
NM_001845.6(COL4A1):c.2096-163A>G
|
rs9521634
|
|
NM_001845.6(COL4A1):c.2096-16del
|
rs112508409
|
|
NM_001845.6(COL4A1):c.2096-19_2096-16del
|
|
|
NM_001845.6(COL4A1):c.2096-27dup
|
rs112508409
|
|
NM_001845.6(COL4A1):c.2096-8T>A
|
|
|
NM_001845.6(COL4A1):c.2096-9_2096-8del
|
|
|
NM_001845.6(COL4A1):c.2096G>A (p.Gly699Asp)
|
rs1064795935
|
|
NM_001845.6(COL4A1):c.210G>A (p.Gly70=)
|
|
|
NM_001845.6(COL4A1):c.2110C>T (p.Pro704Ser)
|
rs1053283710
|
|
NM_001845.6(COL4A1):c.2111C>A (p.Pro704His)
|
|
|
NM_001845.6(COL4A1):c.2113G>A (p.Gly705Arg)
|
|
|
NM_001845.6(COL4A1):c.2119_2120del (p.Met707fs)
|
|
|
NM_001845.6(COL4A1):c.2121G>A (p.Met707Ile)
|
|
|
NM_001845.6(COL4A1):c.2125C>A (p.Pro709Thr)
|
|
|
NM_001845.6(COL4A1):c.2129C>T (p.Pro710Leu)
|
|
|
NM_001845.6(COL4A1):c.2136T>A (p.Thr712=)
|
|
|
NM_001845.6(COL4A1):c.2139A>G (p.Pro713=)
|
|
|
NM_001845.6(COL4A1):c.2141G>A (p.Gly714Asp)
|
rs1064797179
|
|
NM_001845.6(COL4A1):c.2144G>A (p.Arg715His)
|
rs199573161
|
|
NM_001845.6(COL4A1):c.2144G>T (p.Arg715Leu)
|
rs199573161
|
|
NM_001845.6(COL4A1):c.2148G>A (p.Pro716=)
|
|
|
NM_001845.6(COL4A1):c.2163A>G (p.Leu721=)
|
|
|
NM_001845.6(COL4A1):c.2163A>T (p.Leu721Phe)
|
|
|
NM_001845.6(COL4A1):c.2164C>G (p.Pro722Ala)
|
|
|
NM_001845.6(COL4A1):c.2171A>G (p.Asn724Ser)
|
rs1878139800
|
|
NM_001845.6(COL4A1):c.2183A>G (p.Gln728Arg)
|
rs1878139161
|
|
NM_001845.6(COL4A1):c.2191A>C (p.Lys731Gln)
|
|
|
NM_001845.6(COL4A1):c.2191A>G (p.Lys731Glu)
|
|
|
NM_001845.6(COL4A1):c.2193+17C>G
|
|
|
NM_001845.6(COL4A1):c.2193+18C>T
|
rs2139167465
|
|
NM_001845.6(COL4A1):c.2194-11G>A
|
|
|
NM_001845.6(COL4A1):c.2194-16C>T
|
|
|
NM_001845.6(COL4A1):c.2199G>T (p.Glu733Asp)
|
rs371514041
|
|
NM_001845.6(COL4A1):c.2200C>T (p.Pro734Ser)
|
|
|
NM_001845.6(COL4A1):c.2204G>C (p.Gly735Ala)
|
|
|
NM_001845.6(COL4A1):c.2213T>C (p.Leu738Pro)
|
|
|
NM_001845.6(COL4A1):c.2217G>A (p.Pro739=)
|
|
|
NM_001845.6(COL4A1):c.221C>T (p.Pro74Leu)
|
|
|
NM_001845.6(COL4A1):c.2228G>T (p.Gly743Val)
|
rs1057523354
|
|
NM_001845.6(COL4A1):c.2235A>G (p.Pro745=)
|
|
|
NM_001845.6(COL4A1):c.223C>G (p.Pro75Ala)
|
|
|
NM_001845.6(COL4A1):c.2242C>T (p.Pro748Ser)
|
|
|
NM_001845.6(COL4A1):c.2245G>A (p.Gly749Ser)
|
rs113994109
|
|
NM_001845.6(COL4A1):c.2249T>C (p.Ile750Thr)
|
|
|
NM_001845.6(COL4A1):c.2250T>C (p.Ile750=)
|
|
|
NM_001845.6(COL4A1):c.2263G>A (p.Gly755Arg)
|
rs672601346
|
|
NM_001845.6(COL4A1):c.2264G>A (p.Gly755Glu)
|
rs1878041974
|
|
NM_001845.6(COL4A1):c.2277C>A (p.Ser759Arg)
|
rs764059421
|
|
NM_001845.6(COL4A1):c.2277C>G (p.Ser759Arg)
|
|
|
NM_001845.6(COL4A1):c.2279T>G (p.Ile760Ser)
|
|
|
NM_001845.6(COL4A1):c.227G>C (p.Gly76Ala)
|
rs775754972
|
|
NM_001845.6(COL4A1):c.2282G>T (p.Gly761Val)
|
rs1064795130
|
|
NM_001845.6(COL4A1):c.2285T>A (p.Val762Glu)
|
|
|
NM_001845.6(COL4A1):c.2291G>A (p.Gly764Asp)
|
rs1566353677
|
|
NM_001845.6(COL4A1):c.2292C>T (p.Gly764=)
|
|
|
NM_001845.6(COL4A1):c.2293G>A (p.Val765Ile)
|
|
|
NM_001845.6(COL4A1):c.2312C>T (p.Ala771Val)
|
|
|
NM_001845.6(COL4A1):c.2317G>A (p.Gly773Arg)
|
rs672601347
|
|
NM_001845.6(COL4A1):c.2324C>G (p.Pro775Arg)
|
|
|
NM_001845.6(COL4A1):c.2327G>T (p.Gly776Val)
|
rs2139165521
|
|
NM_001845.6(COL4A1):c.2328G>T (p.Gly776=)
|
|
|
NM_001845.6(COL4A1):c.2330T>C (p.Leu777Pro)
|
|
|
NM_001845.6(COL4A1):c.233A>C (p.Lys78Thr)
|
|
|
NM_001845.6(COL4A1):c.234+14T>C
|
|
|
NM_001845.6(COL4A1):c.234+16G>A
|
|
|
NM_001845.6(COL4A1):c.234+9G>T
|
rs374115295
|
|
NM_001845.6(COL4A1):c.2344+104G>C
|
rs73609595
|
|
NM_001845.6(COL4A1):c.2344+18A>G
|
|
|
NM_001845.6(COL4A1):c.2344+9A>T
|
|
|
NM_001845.6(COL4A1):c.2345-15dup
|
|
|
NM_001845.6(COL4A1):c.2345-2A>G
|
|
|
NM_001845.6(COL4A1):c.2345-4C>T
|
|
|
NM_001845.6(COL4A1):c.2347G>A (p.Glu783Lys)
|
rs1878019123
|
|
NM_001845.6(COL4A1):c.234G>A (p.Lys78=)
|
rs905794416
|
|
NM_001845.6(COL4A1):c.235-12A>G
|
|
|
NM_001845.6(COL4A1):c.2352G>A (p.Pro784=)
|
|
|
NM_001845.6(COL4A1):c.2366T>C (p.Leu789Ser)
|
|
|
NM_001845.6(COL4A1):c.2375C>T (p.Ser792Phe)
|
|
|
NM_001845.6(COL4A1):c.2376C>T (p.Ser792=)
|
|
|
NM_001845.6(COL4A1):c.2377G>A (p.Val793Met)
|
rs769302846
|
|
NM_001845.6(COL4A1):c.2391A>G (p.Gly797=)
|
|
|
NM_001845.6(COL4A1):c.2399G>A (p.Gly800Glu)
|
|
|
NM_001845.6(COL4A1):c.2404G>T (p.Gly802Cys)
|
|
|
NM_001845.6(COL4A1):c.2405G>C (p.Gly802Ala)
|
rs1301668632
|
|
NM_001845.6(COL4A1):c.2406C>T (p.Gly802=)
|
|
|
NM_001845.6(COL4A1):c.2407C>A (p.Pro803Thr)
|
|
|
NM_001845.6(COL4A1):c.2411del (p.Pro804fs)
|
rs2139165126
|
|
NM_001845.6(COL4A1):c.2413G>A (p.Gly805Arg)
|
|
|
NM_001845.6(COL4A1):c.2414G>A (p.Gly805Glu)
|
rs868858094
|
|
NM_001845.6(COL4A1):c.241A>G (p.Thr81Ala)
|
|
|
NM_001845.6(COL4A1):c.2420G>A (p.Arg807Lys)
|
|
|
NM_001845.6(COL4A1):c.2420G>C (p.Arg807Thr)
|
|
|
NM_001845.6(COL4A1):c.2425C>T (p.Pro809Ser)
|
|
|
NM_001845.6(COL4A1):c.2427C>T (p.Pro809=)
|
rs1167903898
|
|
NM_001845.6(COL4A1):c.2443C>A (p.Pro815Thr)
|
|
|
NM_001845.6(COL4A1):c.2446C>A (p.Pro816Thr)
|
|
|
NM_001845.6(COL4A1):c.2449G>A (p.Gly817Arg)
|
|
|
NM_001845.6(COL4A1):c.2453T>C (p.Leu818Ser)
|
|
|
NM_001845.6(COL4A1):c.2458+10A>G
|
|
|
NM_001845.6(COL4A1):c.2458+13C>G
|
|
|
NM_001845.6(COL4A1):c.2458+1G>A
|
rs1878012979
|
|
NM_001845.6(COL4A1):c.2458+5G>A
|
|
|
NM_001845.6(COL4A1):c.2458+5G>C
|
|
|
NM_001845.6(COL4A1):c.2458+6dup
|
|
|
NM_001845.6(COL4A1):c.2459-8A>C
|
|
|
NM_001845.6(COL4A1):c.2461C>T (p.Pro821Ser)
|
|
|
NM_001845.6(COL4A1):c.2474A>G (p.Lys825Arg)
|
|
|
NM_001845.6(COL4A1):c.2479G>A (p.Glu827Lys)
|
rs2139164381
|
|
NM_001845.6(COL4A1):c.2484G>A (p.Lys828=)
|
|
|
NM_001845.6(COL4A1):c.2491C>T (p.Pro831Ser)
|
|
|
NM_001845.6(COL4A1):c.2493C>A (p.Pro831=)
|
|
|
NM_001845.6(COL4A1):c.2493C>T (p.Pro831=)
|
rs764995559
|
|
NM_001845.6(COL4A1):c.2494G>A (p.Gly832Arg)
|
rs797044867
|
|
NM_001845.6(COL4A1):c.2500C>G (p.Pro834Ala)
|
|
|
NM_001845.6(COL4A1):c.2511C>T (p.Asp837=)
|
|
|
NM_001845.6(COL4A1):c.2512A>G (p.Met838Val)
|
rs2139164333
|
|
NM_001845.6(COL4A1):c.2514G>A (p.Met838Ile)
|
|
|
NM_001845.6(COL4A1):c.2521C>T (p.Pro841Ser)
|
|
|
NM_001845.6(COL4A1):c.2522C>A (p.Pro841His)
|
|
|
NM_001845.6(COL4A1):c.2522C>G (p.Pro841Arg)
|
|
|
NM_001845.6(COL4A1):c.2532T>C (p.Asp844=)
|
rs2139164290
|
|
NM_001845.6(COL4A1):c.2538G>A (p.Gly846=)
|
|
|
NM_001845.6(COL4A1):c.2539G>A (p.Ala847Thr)
|
|
|
NM_001845.6(COL4A1):c.2544A>G (p.Gln848=)
|
|
|
NM_001845.6(COL4A1):c.2551C>T (p.Pro851Ser)
|
|
|
NM_001845.6(COL4A1):c.2553T>G (p.Pro851=)
|
|
|
NM_001845.6(COL4A1):c.255A>G (p.Gly85=)
|
|
|
NM_001845.6(COL4A1):c.2561C>T (p.Thr854Met)
|
|
|
NM_001845.6(COL4A1):c.2562G>A (p.Thr854=)
|
|
|
NM_001845.6(COL4A1):c.2578C>G (p.Pro860Ala)
|
|
|
NM_001845.6(COL4A1):c.2581G>C (p.Gly861Arg)
|
|
|
NM_001845.6(COL4A1):c.2583C>G (p.Gly861=)
|
|
|
NM_001845.6(COL4A1):c.2583C>T (p.Gly861=)
|
|
|
NM_001845.6(COL4A1):c.2584C>G (p.Leu862Val)
|
|
|
NM_001845.6(COL4A1):c.2584C>T (p.Leu862Phe)
|
|
|
NM_001845.6(COL4A1):c.2591G>A (p.Gly864Glu)
|
rs1877963897
|
|
NM_001845.6(COL4A1):c.2596C>A (p.Gln866Lys)
|
|
|
NM_001845.6(COL4A1):c.2601G>A (p.Gly867=)
|
|
|
NM_001845.6(COL4A1):c.2602G>A (p.Ala868Thr)
|
|
|
NM_001845.6(COL4A1):c.2607T>C (p.Pro869=)
|
|
|
NM_001845.6(COL4A1):c.2618G>A (p.Gly873Glu)
|
|
|
NM_001845.6(COL4A1):c.2626+5G>C
|
|
|
NM_001845.6(COL4A1):c.2626+7G>A
|
|
|
NM_001845.6(COL4A1):c.2626+7G>T
|
|
|
NM_001845.6(COL4A1):c.2627-15T>C
|
|
|
NM_001845.6(COL4A1):c.2627-17C>T
|
rs2139164041
|
|
NM_001845.6(COL4A1):c.2627-19T>A
|
|
|
NM_001845.6(COL4A1):c.2627-1G>A
|
rs1064796811
|
|
NM_001845.6(COL4A1):c.2627-4dup
|
rs1555303159
|
|
NM_001845.6(COL4A1):c.2627-7G>A
|
|
|
NM_001845.6(COL4A1):c.2627-9T>C
|
|
|
NM_001845.6(COL4A1):c.2628T>A (p.Gly876=)
|
|
|
NM_001845.6(COL4A1):c.2636G>A (p.Gly879Glu)
|
rs2139164015
|
|
NM_001845.6(COL4A1):c.2636G>C (p.Gly879Ala)
|
rs2139164015
|
|
NM_001845.6(COL4A1):c.2646C>A (p.Gly882=)
|
|
|
NM_001845.6(COL4A1):c.2646C>T (p.Gly882=)
|
|
|
NM_001845.6(COL4A1):c.2647G>T (p.Val883Phe)
|
|
|
NM_001845.6(COL4A1):c.2655G>C (p.Gly885=)
|
|
|
NM_001845.6(COL4A1):c.2655del (p.Thr886fs)
|
rs2139163985
|
|
NM_001845.6(COL4A1):c.2657C>T (p.Thr886Ile)
|
rs770887997
|
|
NM_001845.6(COL4A1):c.2658C>T (p.Thr886=)
|
rs2139163970
|
|
NM_001845.6(COL4A1):c.2661C>A (p.Pro887=)
|
|
|
NM_001845.6(COL4A1):c.2661C>T (p.Pro887=)
|
|
|
NM_001845.6(COL4A1):c.2662G>A (p.Gly888Arg)
|
rs797045034
|
|
NM_001845.6(COL4A1):c.2670G>A (p.Pro890=)
|
|
|
NM_001845.6(COL4A1):c.2672G>A (p.Gly891Asp)
|
rs886041965
|
|
NM_001845.6(COL4A1):c.2673C>G (p.Gly891=)
|
|
|
NM_001845.6(COL4A1):c.2675C>T (p.Ser892Leu)
|
|
|
NM_001845.6(COL4A1):c.2681G>A (p.Gly894Glu)
|
|
|
NM_001845.6(COL4A1):c.2689G>C (p.Gly897Arg)
|
|
|
NM_001845.6(COL4A1):c.2690G>A (p.Gly897Asp)
|
|
|
NM_001845.6(COL4A1):c.2690G>T (p.Gly897Val)
|
|
|
NM_001845.6(COL4A1):c.2696_2697insCGGCCTCACCAGGACCAGTGGGTGCTCC (p.Pro902fs)
|
|
|
NM_001845.6(COL4A1):c.269A>G (p.Lys90Arg)
|
|
|
NM_001845.6(COL4A1):c.26TGC[5] (p.Leu12dup)
|
rs773749770
|
|
NM_001845.6(COL4A1):c.2705C>G (p.Pro902Arg)
|
rs146134172
|
|
NM_001845.6(COL4A1):c.2705C>T (p.Pro902Leu)
|
rs146134172
|
|
NM_001845.6(COL4A1):c.2711A>G (p.Glu904Gly)
|
|
|
NM_001845.6(COL4A1):c.2716+17C>A
|
|
|
NM_001845.6(COL4A1):c.2716+8A>C
|
rs2139163886
|
|
NM_001845.6(COL4A1):c.2717-19C>G
|
|
|
NM_001845.6(COL4A1):c.2717-1G>A
|
|
|
NM_001845.6(COL4A1):c.2720A>G (p.Asp907Gly)
|
|
|
NM_001845.6(COL4A1):c.2723A>C (p.His908Pro)
|
|
|
NM_001845.6(COL4A1):c.2723A>G (p.His908Arg)
|
|
|
NM_001845.6(COL4A1):c.2724T>C (p.His908=)
|
|
|
NM_001845.6(COL4A1):c.2731C>T (p.Pro911Ser)
|
rs926805569
|
|
NM_001845.6(COL4A1):c.2739C>T (p.Ser913=)
|
|
|
NM_001845.6(COL4A1):c.2757C>A (p.Asp919Glu)
|
|
|
NM_001845.6(COL4A1):c.2758C>T (p.Pro920Ser)
|
|
|
NM_001845.6(COL4A1):c.2763C>T (p.Gly921=)
|
|
|
NM_001845.6(COL4A1):c.2764T>C (p.Leu922=)
|
|
|
NM_001845.6(COL4A1):c.2771G>A (p.Gly924Asp)
|
rs2139163087
|
|
NM_001845.6(COL4A1):c.2775T>C (p.Asp925=)
|
rs1204950387
|
|
NM_001845.6(COL4A1):c.2784T>C (p.Asp928=)
|
|
|
NM_001845.6(COL4A1):c.2786T>A (p.Val929Asp)
|
|
|
NM_001845.6(COL4A1):c.2787C>T (p.Val929=)
|
|
|
NM_001845.6(COL4A1):c.2788G>A (p.Gly930Ser)
|
rs2139163058
|
|
NM_001845.6(COL4A1):c.279+8C>T
|
|
|
NM_001845.6(COL4A1):c.2799C>A (p.Gly933=)
|
|
|
NM_001845.6(COL4A1):c.2799C>G (p.Gly933=)
|
|
|
NM_001845.6(COL4A1):c.280-10G>A
|
|
|
NM_001845.6(COL4A1):c.280-10G>T
|
|
|
NM_001845.6(COL4A1):c.280-158TG[3]
|
rs113274692
|
|
NM_001845.6(COL4A1):c.280-3C>T
|
|
|
NM_001845.6(COL4A1):c.2816A>G (p.Asp939Gly)
|
rs2139163019
|
|
NM_001845.6(COL4A1):c.2836A>T (p.Met946Leu)
|
|
|
NM_001845.6(COL4A1):c.283C>A (p.Pro95Thr)
|
|
|
NM_001845.6(COL4A1):c.2849A>G (p.Lys950Arg)
|
rs2139162983
|
|
NM_001845.6(COL4A1):c.2850A>T (p.Lys950Asn)
|
|
|
NM_001845.6(COL4A1):c.2854G>A (p.Asp952Asn)
|
rs2139162979
|
|
NM_001845.6(COL4A1):c.2861G>C (p.Gly954Ala)
|
rs2139162968
|
|
NM_001845.6(COL4A1):c.2869+14G>A
|
|
|
NM_001845.6(COL4A1):c.2870-10T>G
|
rs1877906599
|
|
NM_001845.6(COL4A1):c.2870-15T>C
|
rs2139162803
|
|
NM_001845.6(COL4A1):c.2870-16C>A
|
|
|
NM_001845.6(COL4A1):c.2870-9G>T
|
|
|
NM_001845.6(COL4A1):c.2870G>A (p.Gly957Glu)
|
rs2139162781
|
|
NM_001845.6(COL4A1):c.2871A>G (p.Gly957=)
|
|
|
NM_001845.6(COL4A1):c.2877T>C (p.Ile959=)
|
|
|
NM_001845.6(COL4A1):c.2878G>A (p.Gly960Arg)
|
rs2139162773
|
|
NM_001845.6(COL4A1):c.287C>T (p.Pro96Leu)
|
|
|
NM_001845.6(COL4A1):c.2882C>T (p.Pro961Leu)
|
|
|
NM_001845.6(COL4A1):c.2884A>C (p.Ile962Leu)
|
|
|
NM_001845.6(COL4A1):c.288G>A (p.Pro96=)
|
|
|
NM_001845.6(COL4A1):c.2890G>C (p.Glu964Gln)
|
rs1555303045
|
|
NM_001845.6(COL4A1):c.2893A>C (p.Lys965Gln)
|
rs2139162744
|
|
NM_001845.6(COL4A1):c.2894A>G (p.Lys965Arg)
|
rs2139162743
|
|
NM_001845.6(COL4A1):c.2902C>T (p.Arg968Ter)
|
rs1877904298
|
|
NM_001845.6(COL4A1):c.2916G>T (p.Gly972=)
|
|
|
NM_001845.6(COL4A1):c.2923G>C (p.Gly975Arg)
|
|
|
NM_001845.6(COL4A1):c.2926G>A (p.Val976Met)
|
rs1020346026
|
|
NM_001845.6(COL4A1):c.2930del (p.Pro977fs)
|
rs2139162697
|
|
NM_001845.6(COL4A1):c.2936A>T (p.Lys979Met)
|
|
|
NM_001845.6(COL4A1):c.2940C>A (p.Asp980Glu)
|
|
|
NM_001845.6(COL4A1):c.2947_2964dup (p.Ala983_Gln988dup)
|
rs2139162654
|
|
NM_001845.6(COL4A1):c.2948C>T (p.Ala983Val)
|
rs956773650
|
|
NM_001845.6(COL4A1):c.2959G>A (p.Gly987Arg)
|
rs1566351456
|
|
NM_001845.6(COL4A1):c.2964G>A (p.Gln988=)
|
|
|
NM_001845.6(COL4A1):c.2968+14C>T
|
|
|
NM_001845.6(COL4A1):c.2968+17C>T
|
|
|
NM_001845.6(COL4A1):c.2968+18G>A
|
|
|
NM_001845.6(COL4A1):c.2968+1G>A
|
|
|
NM_001845.6(COL4A1):c.2968+5A>G
|
|
|
NM_001845.6(COL4A1):c.2968+6G>A
|
|
|
NM_001845.6(COL4A1):c.2968+6G>T
|
rs760570181
|
|
NM_001845.6(COL4A1):c.2968+8G>A
|
rs2139162635
|
|
NM_001845.6(COL4A1):c.2969-19G>A
|
|
|
NM_001845.6(COL4A1):c.2969-31A>G
|
rs1975514
|
|
NM_001845.6(COL4A1):c.2969G>T (p.Gly990Val)
|
rs1594550371
|
|
NM_001845.6(COL4A1):c.2978G>C (p.Gly993Ala)
|
rs2139162409
|
|
NM_001845.6(COL4A1):c.2982T>A (p.Asp994Glu)
|
|
|
NM_001845.6(COL4A1):c.2992A>G (p.Ser998Gly)
|
|
|
NM_001845.6(COL4A1):c.2993G>A (p.Ser998Asn)
|
|
|
NM_001845.6(COL4A1):c.2T>A (p.Met1Lys)
|
rs1555318328
|
|
NM_001845.6(COL4A1):c.3000C>T (p.Thr1000=)
|
|
|
NM_001845.6(COL4A1):c.3003A>G (p.Pro1001=)
|
rs2139162370
|
|
NM_001845.6(COL4A1):c.3020C>T (p.Pro1007Leu)
|
|
|
NM_001845.6(COL4A1):c.3031G>T (p.Gly1011Ter)
|
rs1566351231
|
|
NM_001845.6(COL4A1):c.3037G>A (p.Val1013Ile)
|
|
|
NM_001845.6(COL4A1):c.3037G>T (p.Val1013Phe)
|
rs766119538
|
|
NM_001845.6(COL4A1):c.3041G>A (p.Gly1014Asp)
|
|
|
NM_001845.6(COL4A1):c.3046A>G (p.Met1016Val)
|
|
|
NM_001845.6(COL4A1):c.3051C>A (p.Gly1017=)
|
|
|
NM_001845.6(COL4A1):c.3056C>G (p.Pro1019Arg)
|
|
|
NM_001845.6(COL4A1):c.3058+19A>G
|
|
|
NM_001845.6(COL4A1):c.3059-17A>G
|
|
|
NM_001845.6(COL4A1):c.3059-19C>G
|
|
|
NM_001845.6(COL4A1):c.3059-19C>T
|
|
|
NM_001845.6(COL4A1):c.3059-20T>G
|
|
|
NM_001845.6(COL4A1):c.3059-7T>C
|
|
|
NM_001845.6(COL4A1):c.3083C>T (p.Pro1028Leu)
|
|
|
NM_001845.6(COL4A1):c.3088A>G (p.Ile1030Val)
|
|
|
NM_001845.6(COL4A1):c.3095G>A (p.Gly1032Asp)
|
|
|
NM_001845.6(COL4A1):c.3096C>G (p.Gly1032=)
|
|
|
NM_001845.6(COL4A1):c.3102A>G (p.Gln1034=)
|
|
|
NM_001845.6(COL4A1):c.3126C>G (p.Asp1042Glu)
|
|
|
NM_001845.6(COL4A1):c.3133G>A (p.Ala1045Thr)
|
rs1057519214
|
|
NM_001845.6(COL4A1):c.3142G>A (p.Glu1048Lys)
|
rs1251048055
|
|
NM_001845.6(COL4A1):c.3152A>G (p.Gln1051Arg)
|
|
|
NM_001845.6(COL4A1):c.3178C>T (p.Pro1060Ser)
|
rs886044336
|
|
NM_001845.6(COL4A1):c.3183_3184delinsAG (p.Leu1062Val)
|
|
|
NM_001845.6(COL4A1):c.3184C>T (p.Leu1062=)
|
|
|
NM_001845.6(COL4A1):c.3192T>C (p.Gly1064=)
|
|
|
NM_001845.6(COL4A1):c.3198+10G>T
|
rs202002553
|
|
NM_001845.6(COL4A1):c.3198+11C>T
|
|
|
NM_001845.6(COL4A1):c.3198+20G>A
|
|
|
NM_001845.6(COL4A1):c.3198+28C>G
|
rs111449216
|
|
NM_001845.6(COL4A1):c.3198+28C>T
|
rs111449216
|
|
NM_001845.6(COL4A1):c.3198+9C>A
|
rs112120233
|
|
NM_001845.6(COL4A1):c.3199-14A>C
|
|
|
NM_001845.6(COL4A1):c.3199-18C>G
|
|
|
NM_001845.6(COL4A1):c.3199-20T>A
|
|
|
NM_001845.6(COL4A1):c.3199-5T>G
|
|
|
NM_001845.6(COL4A1):c.3199-7C>T
|
|
|
NM_001845.6(COL4A1):c.3199-9T>C
|
rs1877803388
|
|
NM_001845.6(COL4A1):c.3199G>A (p.Gly1067Arg)
|
|
|
NM_001845.6(COL4A1):c.31C>T (p.Leu11=)
|
|
|
NM_001845.6(COL4A1):c.3203A>T (p.Asp1068Val)
|
|
|
NM_001845.6(COL4A1):c.3205C>G (p.Gln1069Glu)
|
|
|
NM_001845.6(COL4A1):c.3208G>A (p.Gly1070Arg)
|
rs1057523325
|
|
NM_001845.6(COL4A1):c.3215C>T (p.Ala1072Val)
|
|
|
NM_001845.6(COL4A1):c.3224C>T (p.Pro1075Leu)
|
|
|
NM_001845.6(COL4A1):c.3225A>G (p.Pro1075=)
|
|
|
NM_001845.6(COL4A1):c.3230G>A (p.Ser1077Asn)
|
|
|
NM_001845.6(COL4A1):c.3235G>A (p.Gly1079Arg)
|
rs2139160417
|
|
NM_001845.6(COL4A1):c.3236G>A (p.Gly1079Glu)
|
rs1566349968
|
|
NM_001845.6(COL4A1):c.324+15C>T
|
|
|
NM_001845.6(COL4A1):c.324+1G>A
|
rs1085307816
|
|
NM_001845.6(COL4A1):c.325-10T>G
|
|
|
NM_001845.6(COL4A1):c.325-17C>T
|
|
|
NM_001845.6(COL4A1):c.325-18T>C
|
|
|
NM_001845.6(COL4A1):c.325-4G>A
|
rs2139205538
|
|
NM_001845.6(COL4A1):c.3258C>T (p.Ser1086=)
|
|
|
NM_001845.6(COL4A1):c.3259A>G (p.Ile1087Val)
|
|
|
NM_001845.6(COL4A1):c.3262G>A (p.Gly1088Arg)
|
|
|
NM_001845.6(COL4A1):c.3264G>A (p.Gly1088=)
|
rs2139160379
|
|
NM_001845.6(COL4A1):c.3273_3290del (p.Met1092_Gly1097del)
|
|
|
NM_001845.6(COL4A1):c.3276G>A (p.Met1092Ile)
|
|
|
NM_001845.6(COL4A1):c.3279A>G (p.Pro1093=)
|
|
|
NM_001845.6(COL4A1):c.3300del (p.Ser1101fs)
|
|
|
NM_001845.6(COL4A1):c.3306C>T (p.Pro1102=)
|
rs752732736
|
|
NM_001845.6(COL4A1):c.3307G>A (p.Gly1103Arg)
|
rs1877796698
|
|
NM_001845.6(COL4A1):c.3313G>T (p.Val1105Phe)
|
|
|
NM_001845.6(COL4A1):c.3325+14G>A
|
|
|
NM_001845.6(COL4A1):c.3325+14dup
|
rs751210011
|
|
NM_001845.6(COL4A1):c.3325+19T>G
|
|
|
NM_001845.6(COL4A1):c.3325+20C>G
|
|
|
NM_001845.6(COL4A1):c.3325+20C>T
|
|
|
NM_001845.6(COL4A1):c.3325+3A>T
|
|
|
NM_001845.6(COL4A1):c.3325+8A>C
|
|
|
NM_001845.6(COL4A1):c.3325+8del
|
|
|
NM_001845.6(COL4A1):c.3326-12T>G
|
|
|
NM_001845.6(COL4A1):c.3326-13T>G
|
|
|
NM_001845.6(COL4A1):c.3326-13dup
|
rs139122216
|
|
NM_001845.6(COL4A1):c.3326-3T>C
|
|
|
NM_001845.6(COL4A1):c.3326-5T>C
|
|
|
NM_001845.6(COL4A1):c.3326-7del
|
|
|
NM_001845.6(COL4A1):c.3327A>G (p.Gly1109=)
|
|
|
NM_001845.6(COL4A1):c.3336G>C (p.Gly1112=)
|
|
|
NM_001845.6(COL4A1):c.3347A>T (p.Glu1116Val)
|
|
|
NM_001845.6(COL4A1):c.3358A>G (p.Lys1120Glu)
|
rs1566349683
|
|
NM_001845.6(COL4A1):c.3371G>A (p.Gly1124Glu)
|
rs1085307568
|
|
NM_001845.6(COL4A1):c.3378T>A (p.Asp1126Glu)
|
|
|
NM_001845.6(COL4A1):c.3379G>A (p.Gly1127Ser)
|
|
|
NM_001845.6(COL4A1):c.3381C>T (p.Gly1127=)
|
|
|
NM_001845.6(COL4A1):c.3390T>A (p.Gly1130=)
|
|
|
NM_001845.6(COL4A1):c.3395A>G (p.Lys1132Arg)
|
|
|
NM_001845.6(COL4A1):c.3401A>T (p.Glu1134Val)
|
|
|
NM_001845.6(COL4A1):c.3406+10C>T
|
|
|
NM_001845.6(COL4A1):c.3406+8G>A
|
|
|
NM_001845.6(COL4A1):c.3406+9C>T
|
|
|
NM_001845.6(COL4A1):c.3406G>T (p.Gly1136Cys)
|
|
|
NM_001845.6(COL4A1):c.3407-16G>T
|
|
|
NM_001845.6(COL4A1):c.3407-7C>T
|
|
|
NM_001845.6(COL4A1):c.3413C>T (p.Pro1138Leu)
|
|
|
NM_001845.6(COL4A1):c.343G>A (p.Gly115Ser)
|
|
|
NM_001845.6(COL4A1):c.343G>C (p.Gly115Arg)
|
|
|
NM_001845.6(COL4A1):c.3443G>T (p.Gly1148Val)
|
|
|
NM_001845.6(COL4A1):c.3450A>G (p.Lys1150=)
|
|
|
NM_001845.6(COL4A1):c.3456G>T (p.Glu1152Asp)
|
rs2139159560
|
|
NM_001845.6(COL4A1):c.3457C>T (p.Pro1153Ser)
|
|
|
NM_001845.6(COL4A1):c.3461G>A (p.Gly1154Asp)
|
rs2139159547
|
|
NM_001845.6(COL4A1):c.3463A>G (p.Ser1155Gly)
|
|
|
NM_001845.6(COL4A1):c.3467A>T (p.Asp1156Val)
|
|
|
NM_001845.6(COL4A1):c.3468T>C (p.Asp1156=)
|
rs1296803571
|
|
NM_001845.6(COL4A1):c.3472A>G (p.Ile1158Val)
|
|
|
NM_001845.6(COL4A1):c.347C>T (p.Pro116Leu)
|
rs538816765
|
|
NM_001845.6(COL4A1):c.3480del (p.Ser1161fs)
|
|
|
NM_001845.6(COL4A1):c.3481T>A (p.Ser1161Thr)
|
|
|
NM_001845.6(COL4A1):c.3485C>T (p.Ala1162Val)
|
|
|
NM_001845.6(COL4A1):c.3488G>A (p.Gly1163Glu)
|
rs2139159488
|
|
NM_001845.6(COL4A1):c.3493A>G (p.Lys1165Glu)
|
|
|
NM_001845.6(COL4A1):c.3495G>C (p.Lys1165Asn)
|
|
|
NM_001845.6(COL4A1):c.3497G>A (p.Gly1166Asp)
|
|
|
NM_001845.6(COL4A1):c.3497G>T (p.Gly1166Val)
|
rs1085307982
|
|
NM_001845.6(COL4A1):c.3498T>C (p.Gly1166=)
|
|
|
NM_001845.6(COL4A1):c.3501A>G (p.Glu1167=)
|
|
|
NM_001845.6(COL4A1):c.3502C>T (p.Pro1168Ser)
|
|
|
NM_001845.6(COL4A1):c.3505+12C>T
|
|
|
NM_001845.6(COL4A1):c.3505+13G>A
|
|
|
NM_001845.6(COL4A1):c.3505+13G>T
|
rs762177611
|
|
NM_001845.6(COL4A1):c.3505+4T>G
|
|
|
NM_001845.6(COL4A1):c.3505+7C>G
|
|
|
NM_001845.6(COL4A1):c.3506-11T>C
|
|
|
NM_001845.6(COL4A1):c.3506-147C>A
|
rs17517598
|
|
NM_001845.6(COL4A1):c.3506-20A>G
|
|
|
NM_001845.6(COL4A1):c.3506-233G>A
|
rs76348017
|
|
NM_001845.6(COL4A1):c.3506-4A>G
|
|
|
NM_001845.6(COL4A1):c.3509T>C (p.Leu1170Pro)
|
|
|
NM_001845.6(COL4A1):c.3512C>G (p.Pro1171Arg)
|
|
|
NM_001845.6(COL4A1):c.3520G>A (p.Gly1174Arg)
|
|
|
NM_001845.6(COL4A1):c.3521G>A (p.Gly1174Glu)
|
|
|
NM_001845.6(COL4A1):c.3528A>G (p.Pro1176=)
|
|
|
NM_001845.6(COL4A1):c.3530G>C (p.Gly1177Ala)
|
|
|
NM_001845.6(COL4A1):c.3531G>C (p.Gly1177=)
|
|
|
NM_001845.6(COL4A1):c.3536C>G (p.Pro1179Arg)
|
|
|
NM_001845.6(COL4A1):c.3540G>A (p.Gly1180=)
|
|
|
NM_001845.6(COL4A1):c.3556+10G>C
|
|
|
NM_001845.6(COL4A1):c.3556+16T>C
|
|
|
NM_001845.6(COL4A1):c.3556+17G>A
|
|
|
NM_001845.6(COL4A1):c.3556+197G>C
|
rs79228241
|
|
NM_001845.6(COL4A1):c.3556+1G>T
|
rs1555302645
|
|
NM_001845.6(COL4A1):c.3557-11T>C
|
|
|
NM_001845.6(COL4A1):c.3557-14T>C
|
rs886049957
|
|
NM_001845.6(COL4A1):c.3557-3C>G
|
|
|
NM_001845.6(COL4A1):c.3557-6G>A
|
|
|
NM_001845.6(COL4A1):c.3570G>A (p.Glu1190=)
|
|
|
NM_001845.6(COL4A1):c.3572T>G (p.Val1191Gly)
|
|
|
NM_001845.6(COL4A1):c.3574G>A (p.Gly1192Ser)
|
|
|
NM_001845.6(COL4A1):c.3574G>C (p.Gly1192Arg)
|
rs2139156269
|
|
NM_001845.6(COL4A1):c.3579C>G (p.Phe1193Leu)
|
rs968106620
|
|
NM_001845.6(COL4A1):c.3579C>T (p.Phe1193=)
|
|
|
NM_001845.6(COL4A1):c.3584G>C (p.Gly1195Ala)
|
rs2139156261
|
|
NM_001845.6(COL4A1):c.3589G>C (p.Ala1197Pro)
|
|
|
NM_001845.6(COL4A1):c.358C>G (p.Pro120Ala)
|
|
|
NM_001845.6(COL4A1):c.3592G>A (p.Gly1198Arg)
|
rs2139156247
|
|
NM_001845.6(COL4A1):c.3596G>A (p.Ser1199Asn)
|
|
|
NM_001845.6(COL4A1):c.360A>T (p.Pro120=)
|
|
|
NM_001845.6(COL4A1):c.3611G>A (p.Gly1204Glu)
|
rs1085307907
|
|
NM_001845.6(COL4A1):c.3620G>A (p.Gly1207Glu)
|
rs2139156207
|
|
NM_001845.6(COL4A1):c.3635T>A (p.Met1212Lys)
|
|
|
NM_001845.6(COL4A1):c.3635T>C (p.Met1212Thr)
|
|
|
NM_001845.6(COL4A1):c.3638G>A (p.Gly1213Asp)
|
rs2139156180
|
|
NM_001845.6(COL4A1):c.3641C>T (p.Pro1214Leu)
|
|
|
NM_001845.6(COL4A1):c.3642T>G (p.Pro1214=)
|
|
|
NM_001845.6(COL4A1):c.3644C>T (p.Pro1215Leu)
|
|
|
NM_001845.6(COL4A1):c.3645G>A (p.Pro1215=)
|
|
|
NM_001845.6(COL4A1):c.3654G>A (p.Gln1218=)
|
|
|
NM_001845.6(COL4A1):c.3655G>C (p.Gly1219Arg)
|
rs2139156141
|
|
NM_001845.6(COL4A1):c.3655G>T (p.Gly1219Ter)
|
rs2139156141
|
|
NM_001845.6(COL4A1):c.3663G>A (p.Pro1221=)
|
rs371631013
|
|
NM_001845.6(COL4A1):c.3663G>T (p.Pro1221=)
|
rs371631013
|
|
NM_001845.6(COL4A1):c.3667T>A (p.Leu1223Ile)
|
|
|
NM_001845.6(COL4A1):c.3672G>A (p.Pro1224=)
|
|
|
NM_001845.6(COL4A1):c.3677C>A (p.Ser1226Tyr)
|
|
|
NM_001845.6(COL4A1):c.3683G>T (p.Gly1228Val)
|
rs1555302449
|
|
NM_001845.6(COL4A1):c.3684C>A (p.Gly1228=)
|
|
|
NM_001845.6(COL4A1):c.3685C>T (p.His1229Tyr)
|
rs745478987
|
|
NM_001845.6(COL4A1):c.3686A>G (p.His1229Arg)
|
|
|
NM_001845.6(COL4A1):c.3689C>G (p.Ala1230Gly)
|
|
|
NM_001845.6(COL4A1):c.368C>T (p.Pro123Leu)
|
|
|
NM_001845.6(COL4A1):c.3692C>T (p.Thr1231Met)
|
|
|
NM_001845.6(COL4A1):c.3696G>A (p.Glu1232=)
|
|
|
NM_001845.6(COL4A1):c.3698G>A (p.Gly1233Glu)
|
rs1348341976
|
|
NM_001845.6(COL4A1):c.3701C>T (p.Pro1234Leu)
|
|
|
NM_001845.6(COL4A1):c.3706G>A (p.Gly1236Arg)
|
rs113994112
|
|
NM_001845.6(COL4A1):c.3707G>T (p.Gly1236Val)
|
|
|
NM_001845.6(COL4A1):c.3715G>A (p.Gly1239Arg)
|
rs1085307709
|
|
NM_001845.6(COL4A1):c.3719C>A (p.Pro1240His)
|
|
|
NM_001845.6(COL4A1):c.3731C>G (p.Pro1244Arg)
|
|
|
NM_001845.6(COL4A1):c.3734G>A (p.Gly1245Asp)
|
|
|
NM_001845.6(COL4A1):c.3738G>T (p.Leu1246=)
|
|
|
NM_001845.6(COL4A1):c.3740C>T (p.Pro1247Leu)
|
|
|
NM_001845.6(COL4A1):c.3742+10T>C
|
|
|
NM_001845.6(COL4A1):c.3742+13C>T
|
|
|
NM_001845.6(COL4A1):c.3742+14G>T
|
|
|
NM_001845.6(COL4A1):c.3742+18G>A
|
|
|
NM_001845.6(COL4A1):c.3742+1G>T
|
|
|
NM_001845.6(COL4A1):c.3742+7G>T
|
|
|
NM_001845.6(COL4A1):c.3742G>A (p.Gly1248Arg)
|
|
|
NM_001845.6(COL4A1):c.3743-14T>C
|
|
|
NM_001845.6(COL4A1):c.3743-20G>A
|
|
|
NM_001845.6(COL4A1):c.3743-20G>C
|
|
|
NM_001845.6(COL4A1):c.3743-20G>T
|
|
|
NM_001845.6(COL4A1):c.3743-5A>G
|
|
|
NM_001845.6(COL4A1):c.3743G>A (p.Gly1248Glu)
|
rs2139154591
|
|
NM_001845.6(COL4A1):c.3748C>A (p.Pro1250Thr)
|
rs144403132
|
|
NM_001845.6(COL4A1):c.3748C>T (p.Pro1250Ser)
|
|
|
NM_001845.6(COL4A1):c.3749C>T (p.Pro1250Leu)
|
|
|
NM_001845.6(COL4A1):c.3750G>T (p.Pro1250=)
|
|
|
NM_001845.6(COL4A1):c.3760G>A (p.Gly1254Arg)
|
rs1085307614
|
|
NM_001845.6(COL4A1):c.3762_3763delinsTT (p.Pro1255Ser)
|
|
|
NM_001845.6(COL4A1):c.3771G>C (p.Gly1257=)
|
|
|
NM_001845.6(COL4A1):c.377A>G (p.Asn126Ser)
|
|
|
NM_001845.6(COL4A1):c.3796G>C (p.Gly1266Arg)
|
|
|
NM_001845.6(COL4A1):c.3797G>A (p.Gly1266Asp)
|
rs1057518100
|
|
NM_001845.6(COL4A1):c.3806G>A (p.Gly1269Glu)
|
rs2139154502
|
|
NM_001845.6(COL4A1):c.3810T>A (p.Asn1270Lys)
|
|
|
NM_001845.6(COL4A1):c.3812C>T (p.Pro1271Leu)
|
|
|
NM_001845.6(COL4A1):c.3816C>T (p.Gly1272=)
|
|
|
NM_001845.6(COL4A1):c.381C>T (p.Gly127=)
|
|
|
NM_001845.6(COL4A1):c.3820C>T (p.Pro1274Ser)
|
|
|
NM_001845.6(COL4A1):c.3822A>G (p.Pro1274=)
|
rs746243053
|
|
NM_001845.6(COL4A1):c.3825A>G (p.Gly1275=)
|
|
|
NM_001845.6(COL4A1):c.3830C>T (p.Pro1277Leu)
|
|
|
NM_001845.6(COL4A1):c.3843G>A (p.Gly1281=)
|
|
|
NM_001845.6(COL4A1):c.3850G>A (p.Gly1284Arg)
|
rs2139154447
|
|
NM_001845.6(COL4A1):c.3857C>A (p.Pro1286His)
|
rs1064795795
|
|
NM_001845.6(COL4A1):c.3861A>G (p.Gly1287=)
|
rs2139154436
|
|
NM_001845.6(COL4A1):c.387+15G>A
|
|
|
NM_001845.6(COL4A1):c.387+20C>A
|
|
|
NM_001845.6(COL4A1):c.387+20C>T
|
|
|
NM_001845.6(COL4A1):c.3870C>A (p.Gly1290=)
|
|
|
NM_001845.6(COL4A1):c.3876+102_3876+105del
|
rs1444468331
|
|
NM_001845.6(COL4A1):c.3876+104GT[15]
|
rs3832901
|
|
NM_001845.6(COL4A1):c.3876+104GT[16]
|
rs3832901
|
|
NM_001845.6(COL4A1):c.3876+104GT[17]
|
rs3832901
|
|
NM_001845.6(COL4A1):c.3876+104GT[18]
|
rs3832901
|
|
NM_001845.6(COL4A1):c.3876+104GT[19]
|
rs3832901
|
|
NM_001845.6(COL4A1):c.3876+12_3876+16del
|
|
|
NM_001845.6(COL4A1):c.3876+160TCTT[3]
|
rs3832902
|
|
NM_001845.6(COL4A1):c.3876+9T>C
|
|
|
NM_001845.6(COL4A1):c.3877-10_3877-9delinsTT
|
|
|
NM_001845.6(COL4A1):c.3877-17C>A
|
|
|
NM_001845.6(COL4A1):c.3877-19C>A
|
|
|
NM_001845.6(COL4A1):c.3877-8G>T
|
|
|
NM_001845.6(COL4A1):c.3877-9_3877-8delinsTA
|
|
|
NM_001845.6(COL4A1):c.388-14T>G
|
|
|
NM_001845.6(COL4A1):c.388-1G>C
|
rs766209938
|
|
NM_001845.6(COL4A1):c.3886G>A (p.Gly1296Ser)
|
|
|
NM_001845.6(COL4A1):c.388G>A (p.Gly130Arg)
|
rs766346293
|
|
NM_001845.6(COL4A1):c.388G>T (p.Gly130Trp)
|
|
|
NM_001845.6(COL4A1):c.3905G>C (p.Gly1302Ala)
|
rs1877385413
|
|
NM_001845.6(COL4A1):c.3907T>A (p.Ser1303Thr)
|
|
|
NM_001845.6(COL4A1):c.390G>A (p.Gly130=)
|
rs1879820132
|
|
NM_001845.6(COL4A1):c.3932G>A (p.Gly1311Glu)
|
rs1877384330
|
|
NM_001845.6(COL4A1):c.3934G>A (p.Val1312Ile)
|
|
|
NM_001845.6(COL4A1):c.3949+7C>T
|
|
|
NM_001845.6(COL4A1):c.394A>G (p.Arg132Gly)
|
|
|
NM_001845.6(COL4A1):c.3950-12C>G
|
|
|
NM_001845.6(COL4A1):c.3950-19G>T
|
|
|
NM_001845.6(COL4A1):c.3950-4T>C
|
|
|
NM_001845.6(COL4A1):c.3950-7C>T
|
|
|
NM_001845.6(COL4A1):c.3952C>T (p.Pro1318Ser)
|
rs1877334157
|
|
NM_001845.6(COL4A1):c.3954A>T (p.Pro1318=)
|
|
|
NM_001845.6(COL4A1):c.3955A>C (p.Lys1319Gln)
|
|
|
NM_001845.6(COL4A1):c.3972C>T (p.Leu1324=)
|
rs535848796
|
|
NM_001845.6(COL4A1):c.3976G>A (p.Gly1326Arg)
|
rs587777379
|
|
NM_001845.6(COL4A1):c.3977G>T (p.Gly1326Val)
|
rs886041714
|
|
NM_001845.6(COL4A1):c.3983A>G (p.Lys1328Arg)
|
|
|
NM_001845.6(COL4A1):c.3989ATCAAGGCG[1] (p.1330DQG[1])
|
|
|
NM_001845.6(COL4A1):c.3992A>G (p.Gln1331Arg)
|
|
|
NM_001845.6(COL4A1):c.3995G>A (p.Gly1332Asp)
|
rs1877331560
|
|
NM_001845.6(COL4A1):c.3999T>C (p.Asp1333=)
|
|
|
NM_001845.6(COL4A1):c.39C>T (p.Pro13=)
|
|
|
NM_001845.6(COL4A1):c.4001_4002delinsGC (p.Gln1334Arg)
|
|
|
NM_001845.6(COL4A1):c.4002A>C (p.Gln1334His)
|
rs3742207
|
|
NM_001845.6(COL4A1):c.4002A>T (p.Gln1334His)
|
|
|
NM_001845.6(COL4A1):c.4006G>A (p.Val1336Ile)
|
|
|
NM_001845.6(COL4A1):c.4007T>C (p.Val1336Ala)
|
|
|
NM_001845.6(COL4A1):c.4021+14T>A
|
rs755709828
|
|
NM_001845.6(COL4A1):c.4021+15T>A
|
|
|
NM_001845.6(COL4A1):c.4021+2T>C
|
|
|
NM_001845.6(COL4A1):c.4022-18C>A
|
rs778889500
|
|
NM_001845.6(COL4A1):c.4022-18C>T
|
|
|
NM_001845.6(COL4A1):c.4022-20T>A
|
|
|
NM_001845.6(COL4A1):c.4022-3C>T
|
|
|
NM_001845.6(COL4A1):c.4022-511A>C
|
rs35185062
|
|
NM_001845.6(COL4A1):c.4022-7C>T
|
|
|
NM_001845.6(COL4A1):c.4028C>T (p.Pro1343Leu)
|
|
|
NM_001845.6(COL4A1):c.402G>A (p.Pro134=)
|
rs761538161
|
|
NM_001845.6(COL4A1):c.4036C>T (p.Pro1346Ser)
|
|
|
NM_001845.6(COL4A1):c.4049G>A (p.Gly1350Asp)
|
rs2139149340
|
|
NM_001845.6(COL4A1):c.4055A>G (p.Tyr1352Cys)
|
|
|
NM_001845.6(COL4A1):c.4057G>A (p.Asp1353Asn)
|
|
|
NM_001845.6(COL4A1):c.4058A>G (p.Asp1353Gly)
|
|
|
NM_001845.6(COL4A1):c.4059C>T (p.Asp1353=)
|
|
|
NM_001845.6(COL4A1):c.4067A>G (p.Lys1356Arg)
|
|
|
NM_001845.6(COL4A1):c.4074G>A (p.Glu1358=)
|
|
|
NM_001845.6(COL4A1):c.4074G>T (p.Glu1358Asp)
|
|
|
NM_001845.6(COL4A1):c.4077C>T (p.Pro1359=)
|
|
|
NM_001845.6(COL4A1):c.4084C>T (p.Pro1362Ser)
|
|
|
NM_001845.6(COL4A1):c.4101C>G (p.Pro1367=)
|
|
|
NM_001845.6(COL4A1):c.4104A>G (p.Pro1368=)
|
|
|
NM_001845.6(COL4A1):c.4121A>C (p.Gln1374Pro)
|
|
|
NM_001845.6(COL4A1):c.4129C>T (p.Pro1377Ser)
|
rs1566342407
|
|
NM_001845.6(COL4A1):c.4136C>T (p.Pro1379Leu)
|
|
|
NM_001845.6(COL4A1):c.4144C>G (p.Gln1382Glu)
|
|
|
NM_001845.6(COL4A1):c.4146G>A (p.Gln1382=)
|
|
|
NM_001845.6(COL4A1):c.4146G>C (p.Gln1382His)
|
|
|
NM_001845.6(COL4A1):c.4150+14G>A
|
|
|
NM_001845.6(COL4A1):c.4150+1G>A
|
rs2139149159
|
|
NM_001845.6(COL4A1):c.4150+201del
|
rs11289908
|
|
NM_001845.6(COL4A1):c.4150+7A>G
|
|
|
NM_001845.6(COL4A1):c.4150+9G>A
|
|
|
NM_001845.6(COL4A1):c.4150+9G>C
|
|
|
NM_001845.6(COL4A1):c.4151-10T>C
|
|
|
NM_001845.6(COL4A1):c.4151-18A>G
|
|
|
NM_001845.6(COL4A1):c.4153G>A (p.Val1385Ile)
|
|
|
NM_001845.6(COL4A1):c.4173A>G (p.Ile1391Met)
|
rs1414773161
|
|
NM_001845.6(COL4A1):c.4185A>C (p.Pro1395=)
|
|
|
NM_001845.6(COL4A1):c.4190T>A (p.Ile1397Asn)
|
|
|
NM_001845.6(COL4A1):c.4208C>T (p.Ala1403Val)
|
|
|
NM_001845.6(COL4A1):c.4213G>A (p.Gly1405Ser)
|
rs1877181545
|
|
NM_001845.6(COL4A1):c.4216C>A (p.Gln1406Lys)
|
|
|
NM_001845.6(COL4A1):c.4235C>A (p.Pro1412His)
|
rs2139147388
|
|
NM_001845.6(COL4A1):c.4237G>A (p.Ala1413Thr)
|
|
|
NM_001845.6(COL4A1):c.4239C>T (p.Ala1413=)
|
|
|
NM_001845.6(COL4A1):c.4240G>A (p.Gly1414Arg)
|
|
|
NM_001845.6(COL4A1):c.4249+10G>A
|
|
|
NM_001845.6(COL4A1):c.4249+137G>C
|
rs2298240
|
|
NM_001845.6(COL4A1):c.4249+17C>T
|
|
|
NM_001845.6(COL4A1):c.4249+4G>C
|
|
|
NM_001845.6(COL4A1):c.4249+9C>A
|
|
|
NM_001845.6(COL4A1):c.4249+9C>G
|
|
|
NM_001845.6(COL4A1):c.4250-16G>T
|
|
|
NM_001845.6(COL4A1):c.4250-1G>A
|
rs2139146298
|
|
NM_001845.6(COL4A1):c.4250-9A>G
|
|
|
NM_001845.6(COL4A1):c.4252C>T (p.Pro1418Ser)
|
|
|
NM_001845.6(COL4A1):c.4256G>A (p.Arg1419Lys)
|
|
|
NM_001845.6(COL4A1):c.4260A>G (p.Gly1420=)
|
rs2139146289
|
|
NM_001845.6(COL4A1):c.4272A>C (p.Pro1424=)
|
|
|
NM_001845.6(COL4A1):c.4273C>T (p.Pro1425Ser)
|
|
|
NM_001845.6(COL4A1):c.4281C>T (p.Pro1427=)
|
rs769089749
|
|
NM_001845.6(COL4A1):c.4282G>A (p.Asp1428Asn)
|
|
|
NM_001845.6(COL4A1):c.4282G>T (p.Asp1428Tyr)
|
|
|
NM_001845.6(COL4A1):c.4290G>C (p.Leu1430Phe)
|
|
|
NM_001845.6(COL4A1):c.4306C>G (p.Pro1436Ala)
|
|
|
NM_001845.6(COL4A1):c.430G>T (p.Ala144Ser)
|
rs778175625
|
|
NM_001845.6(COL4A1):c.4327G>C (p.Asp1443His)
|
|
|
NM_001845.6(COL4A1):c.4347C>A (p.Thr1449=)
|
|
|
NM_001845.6(COL4A1):c.4352A>G (p.His1451Arg)
|
|
|
NM_001845.6(COL4A1):c.4354A>G (p.Ser1452Gly)
|
rs2139146183
|
|
NM_001845.6(COL4A1):c.4363A>G (p.Ile1455Val)
|
|
|
NM_001845.6(COL4A1):c.4372C>T (p.Pro1458Ser)
|
|
|
NM_001845.6(COL4A1):c.4373C>A (p.Pro1458Gln)
|
rs2139146160
|
|
NM_001845.6(COL4A1):c.4394A>G (p.Lys1465Arg)
|
|
|
NM_001845.6(COL4A1):c.4399C>G (p.Leu1467Val)
|
|
|
NM_001845.6(COL4A1):c.4408G>A (p.Gly1470Arg)
|
rs2139146124
|
|
NM_001845.6(COL4A1):c.4408G>C (p.Gly1470Arg)
|
|
|
NM_001845.6(COL4A1):c.4408G>T (p.Gly1470Trp)
|
rs2139146124
|
|
NM_001845.6(COL4A1):c.4409G>A (p.Gly1470Glu)
|
rs2139146120
|
|
NM_001845.6(COL4A1):c.4409G>C (p.Gly1470Ala)
|
rs2139146120
|
|
NM_001845.6(COL4A1):c.441+14A>G
|
|
|
NM_001845.6(COL4A1):c.441+18A>G
|
|
|
NM_001845.6(COL4A1):c.441+19G>A
|
|
|
NM_001845.6(COL4A1):c.441+9A>G
|
|
|
NM_001845.6(COL4A1):c.4410G>T (p.Gly1470=)
|
|
|
NM_001845.6(COL4A1):c.4411T>C (p.Tyr1471His)
|
|
|
NM_001845.6(COL4A1):c.441C>G (p.Pro147=)
|
|
|
NM_001845.6(COL4A1):c.442-14A>T
|
|
|
NM_001845.6(COL4A1):c.442-1G>C
|
|
|
NM_001845.6(COL4A1):c.442-8T>C
|
|
|
NM_001845.6(COL4A1):c.4424A>T (p.Tyr1475Phe)
|
rs2139146108
|
|
NM_001845.6(COL4A1):c.4426G>A (p.Val1476Met)
|
|
|
NM_001845.6(COL4A1):c.4434C>T (p.Gly1478=)
|
rs1877121184
|
|
NM_001845.6(COL4A1):c.4441C>A (p.Arg1481=)
|
|
|
NM_001845.6(COL4A1):c.4454A>G (p.Gln1485Arg)
|
|
|
NM_001845.6(COL4A1):c.445C>A (p.Pro149Thr)
|
|
|
NM_001845.6(COL4A1):c.4462+14A>G
|
|
|
NM_001845.6(COL4A1):c.4462+20A>G
|
|
|
NM_001845.6(COL4A1):c.4462+4A>G
|
rs2139146049
|
|
NM_001845.6(COL4A1):c.4462+9C>G
|
|
|
NM_001845.6(COL4A1):c.4463-10C>A
|
|
|
NM_001845.6(COL4A1):c.4463-299_4463-298dup
|
rs113466690
|
|
NM_001845.6(COL4A1):c.4463-5T>C
|
|
|
NM_001845.6(COL4A1):c.4467G>A (p.Thr1489=)
|
|
|
NM_001845.6(COL4A1):c.4469C>T (p.Ala1490Val)
|
|
|
NM_001845.6(COL4A1):c.4471G>A (p.Gly1491Ser)
|
|
|
NM_001845.6(COL4A1):c.4471G>T (p.Gly1491Cys)
|
|
|
NM_001845.6(COL4A1):c.4481T>A (p.Leu1494Gln)
|
|
|
NM_001845.6(COL4A1):c.4483C>T (p.Arg1495Cys)
|
|
|
NM_001845.6(COL4A1):c.4484G>A (p.Arg1495His)
|
|
|
NM_001845.6(COL4A1):c.4494C>G (p.Ser1498Arg)
|
|
|
NM_001845.6(COL4A1):c.44C>T (p.Ala15Val)
|
|
|
NM_001845.6(COL4A1):c.4517A>G (p.Asn1506Ser)
|
|
|
NM_001845.6(COL4A1):c.4524C>A (p.Asn1508Lys)
|
|
|
NM_001845.6(COL4A1):c.452G>A (p.Gly151Asp)
|
rs2139204356
|
|
NM_001845.6(COL4A1):c.4544C>T (p.Ser1515Leu)
|
|
|
NM_001845.6(COL4A1):c.4553A>G (p.Asp1518Gly)
|
|
|
NM_001845.6(COL4A1):c.4554C>T (p.Asp1518=)
|
|
|
NM_001845.6(COL4A1):c.4572C>T (p.Ser1524=)
|
|
|
NM_001845.6(COL4A1):c.4573A>G (p.Thr1525Ala)
|
rs2138427724
|
|
NM_001845.6(COL4A1):c.4582C>T (p.Pro1528Ser)
|
|
|
NM_001845.6(COL4A1):c.4583C>T (p.Pro1528Leu)
|
rs1085307967
|
|
NM_001845.6(COL4A1):c.4585A>G (p.Met1529Val)
|
|
|
NM_001845.6(COL4A1):c.4586T>A (p.Met1529Lys)
|
|
|
NM_001845.6(COL4A1):c.4588C>T (p.Pro1530Ser)
|
|
|
NM_001845.6(COL4A1):c.4591A>G (p.Met1531Val)
|
rs1343193102
|
|
NM_001845.6(COL4A1):c.4593G>A (p.Met1531Ile)
|
|
|
NM_001845.6(COL4A1):c.4594T>G (p.Ser1532Ala)
|
|
|
NM_001845.6(COL4A1):c.4597A>G (p.Met1533Val)
|
|
|
NM_001845.6(COL4A1):c.4610C>T (p.Thr1537Met)
|
|
|
NM_001845.6(COL4A1):c.4611G>A (p.Thr1537=)
|
|
|
NM_001845.6(COL4A1):c.4614G>A (p.Gly1538=)
|
rs2138427633
|
|
NM_001845.6(COL4A1):c.4617A>G (p.Glu1539=)
|
rs1469331974
|
|
NM_001845.6(COL4A1):c.4620C>T (p.Asn1540=)
|
|
|
NM_001845.6(COL4A1):c.4621A>G (p.Ile1541Val)
|
|
|
NM_001845.6(COL4A1):c.4625G>A (p.Arg1542Lys)
|
|
|
NM_001845.6(COL4A1):c.4630T>C (p.Phe1544Leu)
|
rs2138427595
|
|
NM_001845.6(COL4A1):c.463A>G (p.Met155Val)
|
|
|
NM_001845.6(COL4A1):c.4640+10G>C
|
|
|
NM_001845.6(COL4A1):c.4640+19G>T
|
|
|
NM_001845.6(COL4A1):c.4640+4A>G
|
|
|
NM_001845.6(COL4A1):c.4641-12C>T
|
|
|
NM_001845.6(COL4A1):c.4641-32G>A
|
rs617111
|
|
NM_001845.6(COL4A1):c.4641-9C>T
|
|
|
NM_001845.6(COL4A1):c.464T>C (p.Met155Thr)
|
|
|
NM_001845.6(COL4A1):c.4652G>A (p.Cys1551Tyr)
|
|
|
NM_001845.6(COL4A1):c.4652G>T (p.Cys1551Phe)
|
rs1594530228
|
|
NM_001845.6(COL4A1):c.4667T>A (p.Met1556Lys)
|
|
|
NM_001845.6(COL4A1):c.4674G>A (p.Met1558Ile)
|
|
|
NM_001845.6(COL4A1):c.4678G>A (p.Val1560Met)
|
|
|
NM_001845.6(COL4A1):c.467A>C (p.Lys156Thr)
|
|
|
NM_001845.6(COL4A1):c.468+11T>C
|
rs2139204324
|
|
NM_001845.6(COL4A1):c.468+13T>G
|
|
|
NM_001845.6(COL4A1):c.468+18T>A
|
|
|
NM_001845.6(COL4A1):c.468+4C>G
|
|
|
NM_001845.6(COL4A1):c.468+5A>G
|
|
|
NM_001845.6(COL4A1):c.468+5ATTTT[2]
|
rs3832900
|
|
NM_001845.6(COL4A1):c.468+5ATTTT[4]
|
|
|
NM_001845.6(COL4A1):c.468+7T>C
|
|
|
NM_001845.6(COL4A1):c.468+9T>C
|
|
|
NM_001845.6(COL4A1):c.4683C>T (p.His1561=)
|
|
|
NM_001845.6(COL4A1):c.469-10C>T
|
|
|
NM_001845.6(COL4A1):c.469-191C>T
|
rs76574181
|
|
NM_001845.6(COL4A1):c.469-26_469-18dup
|
|
|
NM_001845.6(COL4A1):c.469-7C>A
|
|
|
NM_001845.6(COL4A1):c.4692C>A (p.Thr1564=)
|
|
|
NM_001845.6(COL4A1):c.4693A>G (p.Ile1565Val)
|
|
|
NM_001845.6(COL4A1):c.4693A>T (p.Ile1565Phe)
|
rs1876733964
|
|
NM_001845.6(COL4A1):c.469G>A (p.Gly157Ser)
|
|
|
NM_001845.6(COL4A1):c.46C>G (p.Leu16Val)
|
|
|
NM_001845.6(COL4A1):c.4711C>T (p.Pro1571Ser)
|
|
|
NM_001845.6(COL4A1):c.4712C>A (p.Pro1571His)
|
|
|
NM_001845.6(COL4A1):c.4718G>C (p.Gly1573Ala)
|
|
|
NM_001845.6(COL4A1):c.4724C>T (p.Ser1575Phe)
|
|
|
NM_001845.6(COL4A1):c.4725C>A (p.Ser1575=)
|
|
|
NM_001845.6(COL4A1):c.4727C>T (p.Ser1576Leu)
|
|
|
NM_001845.6(COL4A1):c.4731G>C (p.Leu1577=)
|
|
|
NM_001845.6(COL4A1):c.4737C>T (p.Ile1579=)
|
|
|
NM_001845.6(COL4A1):c.4738G>A (p.Gly1580Ser)
|
rs113994114
|
|
NM_001845.6(COL4A1):c.4740C>T (p.Gly1580=)
|
|
|
NM_001845.6(COL4A1):c.4744T>C (p.Ser1582Pro)
|
rs1594530090
|
|
NM_001845.6(COL4A1):c.4749T>G (p.Phe1583Leu)
|
|
|
NM_001845.6(COL4A1):c.474T>G (p.Asp158Glu)
|
|
|
NM_001845.6(COL4A1):c.4755+13G>C
|
rs2138420847
|
|
NM_001845.6(COL4A1):c.4755+14G>A
|
|
|
NM_001845.6(COL4A1):c.4755+19G>A
|
|
|
NM_001845.6(COL4A1):c.4755+1G>T
|
rs1332002484
|
|
NM_001845.6(COL4A1):c.4755+60G>C
|
rs2275841
|
|
NM_001845.6(COL4A1):c.4756-15G>A
|
|
|
NM_001845.6(COL4A1):c.4756-16C>T
|
|
|
NM_001845.6(COL4A1):c.4756-18C>G
|
|
|
NM_001845.6(COL4A1):c.4756-6C>T
|
rs2138417695
|
|
NM_001845.6(COL4A1):c.4757A>T (p.His1586Leu)
|
rs1566332829
|
|
NM_001845.6(COL4A1):c.4764C>G (p.Ser1588Arg)
|
rs779680003
|
|
NM_001845.6(COL4A1):c.4764C>T (p.Ser1588=)
|
|
|
NM_001845.6(COL4A1):c.4765G>A (p.Ala1589Thr)
|
|
|
NM_001845.6(COL4A1):c.4770T>C (p.Gly1590=)
|
|
|
NM_001845.6(COL4A1):c.4770T>G (p.Gly1590=)
|
rs1339688171
|
|
NM_001845.6(COL4A1):c.4773A>G (p.Ala1591=)
|
|
|
NM_001845.6(COL4A1):c.4775A>G (p.Glu1592Gly)
|
|
|
NM_001845.6(COL4A1):c.4778G>C (p.Gly1593Ala)
|
|
|
NM_001845.6(COL4A1):c.4778G>T (p.Gly1593Val)
|
|
|
NM_001845.6(COL4A1):c.4779C>T (p.Gly1593=)
|
|
|
NM_001845.6(COL4A1):c.4795G>A (p.Ala1599Thr)
|
|
|
NM_001845.6(COL4A1):c.4797G>A (p.Ala1599=)
|
rs146638269
|
|
NM_001845.6(COL4A1):c.4797G>T (p.Ala1599=)
|
rs146638269
|
|
NM_001845.6(COL4A1):c.4800C>A (p.Ser1600=)
|
rs650724
|
|
NM_001845.6(COL4A1):c.4801C>G (p.Pro1601Ala)
|
rs1174157767
|
|
NM_001845.6(COL4A1):c.4815G>C (p.Leu1605=)
|
|
|
NM_001845.6(COL4A1):c.481G>A (p.Glu161Lys)
|
rs1447711802
|
|
NM_001845.6(COL4A1):c.4821G>A (p.Glu1607=)
|
|
|
NM_001845.6(COL4A1):c.4832C>T (p.Ala1611Val)
|
|
|
NM_001845.6(COL4A1):c.4833G>A (p.Ala1611=)
|
|
|
NM_001845.6(COL4A1):c.483G>T (p.Glu161Asp)
|
|
|
NM_001845.6(COL4A1):c.4842C>T (p.Ile1614=)
|
|
|
NM_001845.6(COL4A1):c.4852G>A (p.Gly1618Ser)
|
|
|
NM_001845.6(COL4A1):c.4855C>T (p.Arg1619Cys)
|
|
|
NM_001845.6(COL4A1):c.4862C>A (p.Thr1621Asn)
|
|
|
NM_001845.6(COL4A1):c.4870T>C (p.Tyr1624His)
|
|
|
NM_001845.6(COL4A1):c.4875C>T (p.Tyr1625=)
|
|
|
NM_001845.6(COL4A1):c.4877C>G (p.Ala1626Gly)
|
|
|
NM_001845.6(COL4A1):c.4899C>T (p.Leu1633=)
|
|
|
NM_001845.6(COL4A1):c.4900G>A (p.Ala1634Thr)
|
|
|
NM_001845.6(COL4A1):c.4906A>G (p.Ile1636Val)
|
|
|
NM_001845.6(COL4A1):c.4907T>C (p.Ile1636Thr)
|
|
|
NM_001845.6(COL4A1):c.4912A>C (p.Arg1638=)
|
rs1594527347
|
|
NM_001845.6(COL4A1):c.4917C>A (p.Ser1639Arg)
|
|
|
NM_001845.6(COL4A1):c.4917C>T (p.Ser1639=)
|
|
|
NM_001845.6(COL4A1):c.4918G>A (p.Glu1640Lys)
|
|
|
NM_001845.6(COL4A1):c.4918G>T (p.Glu1640Ter)
|
|
|
NM_001845.6(COL4A1):c.4920G>A (p.Glu1640=)
|
|
|
NM_001845.6(COL4A1):c.4923G>A (p.Met1641Ile)
|
|
|
NM_001845.6(COL4A1):c.4927A>C (p.Lys1643Gln)
|
|
|
NM_001845.6(COL4A1):c.4927A>G (p.Lys1643Glu)
|
|
|
NM_001845.6(COL4A1):c.4928+13A>C
|
|
|
NM_001845.6(COL4A1):c.4928+13A>G
|
|
|
NM_001845.6(COL4A1):c.4928+226C>T
|
rs2298237
|
|
NM_001845.6(COL4A1):c.4928+2T>C
|
rs2138417443
|
|
NM_001845.6(COL4A1):c.4928+5G>A
|
|
|
NM_001845.6(COL4A1):c.4929-16C>T
|
|
|
NM_001845.6(COL4A1):c.4929-20G>T
|
|
|
NM_001845.6(COL4A1):c.4929-4T>C
|
|
|
NM_001845.6(COL4A1):c.4929-7G>A
|
|
|
NM_001845.6(COL4A1):c.4929-9G>C
|
|
|
NM_001845.6(COL4A1):c.4929G>A (p.Lys1643=)
|
|
|
NM_001845.6(COL4A1):c.4937C>T (p.Thr1646Met)
|
|
|
NM_001845.6(COL4A1):c.4938G>A (p.Thr1646=)
|
|
|
NM_001845.6(COL4A1):c.4941G>T (p.Pro1647=)
|
|
|
NM_001845.6(COL4A1):c.4946C>G (p.Thr1649Ser)
|
|
|
NM_001845.6(COL4A1):c.4949T>C (p.Leu1650Ser)
|
rs2138415466
|
|
NM_001845.6(COL4A1):c.494A>G (p.His165Arg)
|
rs200805263
|
|
NM_001845.6(COL4A1):c.4957G>C (p.Gly1653Arg)
|
|
|
NM_001845.6(COL4A1):c.495T>A (p.His165Gln)
|
rs762125888
|
|
NM_001845.6(COL4A1):c.495T>C (p.His165=)
|
|
|
NM_001845.6(COL4A1):c.4961A>T (p.Glu1654Val)
|
rs1876444347
|
|
NM_001845.6(COL4A1):c.4966C>A (p.Arg1656Ser)
|
|
|
NM_001845.6(COL4A1):c.4966C>T (p.Arg1656Cys)
|
rs377350886
|
|
NM_001845.6(COL4A1):c.4968C>T (p.Arg1656=)
|
rs1594525556
|
|
NM_001845.6(COL4A1):c.4971G>T (p.Thr1657=)
|
|
|
NM_001845.6(COL4A1):c.4972C>T (p.His1658Tyr)
|
|
|
NM_001845.6(COL4A1):c.4974C>T (p.His1658=)
|
|
|
NM_001845.6(COL4A1):c.4975G>A (p.Val1659Ile)
|
|
|
NM_001845.6(COL4A1):c.4975G>C (p.Val1659Leu)
|
|
|
NM_001845.6(COL4A1):c.4981C>T (p.Arg1661Cys)
|
rs1555300086
|
|
NM_001845.6(COL4A1):c.4982G>A (p.Arg1661His)
|
|
|
NM_001845.6(COL4A1):c.4984T>C (p.Cys1662Arg)
|
rs2138415394
|
|
NM_001845.6(COL4A1):c.4994G>A (p.Cys1665Tyr)
|
rs794727751
|
|
NM_001845.6(COL4A1):c.4996A>G (p.Met1666Val)
|
rs1301142454
|
|
NM_001845.6(COL4A1):c.4998G>A (p.Met1666Ile)
|
|
|
NM_001845.6(COL4A1):c.5000GAA[1] (p.Arg1668del)
|
rs1294802953
|
|
NM_001845.6(COL4A1):c.5003G>A (p.Arg1668Lys)
|
|
|
NM_001845.6(COL4A1):c.5003G>C (p.Arg1668Thr)
|
|
|
NM_001845.6(COL4A1):c.5007A>G (p.Thr1669=)
|
|
|
NM_001845.6(COL4A1):c.518G>C (p.Gly173Ala)
|
|
|
NM_001845.6(COL4A1):c.525A>C (p.Arg175Ser)
|
|
|
NM_001845.6(COL4A1):c.536G>C (p.Gly179Ala)
|
|
|
NM_001845.6(COL4A1):c.539T>G (p.Ile180Ser)
|
|
|
NM_001845.6(COL4A1):c.543A>G (p.Pro181=)
|
|
|
NM_001845.6(COL4A1):c.546G>A (p.Gly182=)
|
|
|
NM_001845.6(COL4A1):c.551C>T (p.Pro184Leu)
|
|
|
NM_001845.6(COL4A1):c.552+13T>C
|
|
|
NM_001845.6(COL4A1):c.553-16T>C
|
|
|
NM_001845.6(COL4A1):c.553-19T>C
|
|
|
NM_001845.6(COL4A1):c.553-20_553-19del
|
|
|
NM_001845.6(COL4A1):c.553-3T>C
|
|
|
NM_001845.6(COL4A1):c.554G>A (p.Gly185Asp)
|
rs1566376798
|
|
NM_001845.6(COL4A1):c.554G>C (p.Gly185Ala)
|
rs1566376798
|
|
NM_001845.6(COL4A1):c.557C>T (p.Pro186Leu)
|
|
|
NM_001845.6(COL4A1):c.559C>A (p.Pro187Thr)
|
rs1064795868
|
|
NM_001845.6(COL4A1):c.584C>G (p.Pro195Arg)
|
rs2139202272
|
|
NM_001845.6(COL4A1):c.585T>C (p.Pro195=)
|
|
|
NM_001845.6(COL4A1):c.586G>C (p.Val196Leu)
|
|
|
NM_001845.6(COL4A1):c.589G>T (p.Gly197Trp)
|
rs2139202259
|
|
NM_001845.6(COL4A1):c.5G>A (p.Gly2Glu)
|
|
|
NM_001845.6(COL4A1):c.607G>A (p.Gly203Arg)
|
rs1057519191
|
|
NM_001845.6(COL4A1):c.614C>T (p.Pro205Leu)
|
|
|
NM_001845.6(COL4A1):c.615+11G>C
|
|
|
NM_001845.6(COL4A1):c.615+14G>T
|
|
|
NM_001845.6(COL4A1):c.615+19C>G
|
|
|
NM_001845.6(COL4A1):c.616-10T>A
|
|
|
NM_001845.6(COL4A1):c.616-11_616-10delinsCG
|
|
|
NM_001845.6(COL4A1):c.616-13C>T
|
|
|
NM_001845.6(COL4A1):c.616-16A>G
|
|
|
NM_001845.6(COL4A1):c.616-5C>T
|
|
|
NM_001845.6(COL4A1):c.619C>A (p.Pro207Thr)
|
rs181845921
|
|
NM_001845.6(COL4A1):c.619C>T (p.Pro207Ser)
|
|
|
NM_001845.6(COL4A1):c.626_627insT (p.Pro211fs)
|
rs1566376109
|
|
NM_001845.6(COL4A1):c.62A>T (p.Glu21Val)
|
rs2139331714
|
|
NM_001845.6(COL4A1):c.631C>T (p.Pro211Ser)
|
|
|
NM_001845.6(COL4A1):c.633C>A (p.Pro211=)
|
|
|
NM_001845.6(COL4A1):c.634G>A (p.Gly212Ser)
|
rs878853070
|
|
NM_001845.6(COL4A1):c.634G>C (p.Gly212Arg)
|
|
|
NM_001845.6(COL4A1):c.64C>T (p.His22Tyr)
|
|
|
NM_001845.6(COL4A1):c.651+118_651+119insTCTT
|
rs35638294
|
|
NM_001845.6(COL4A1):c.651+17T>G
|
|
|
NM_001845.6(COL4A1):c.651+18T>G
|
|
|
NM_001845.6(COL4A1):c.651+230_651+231del
|
rs10590627
|
|
NM_001845.6(COL4A1):c.651+91_651+92insTG
|
rs35906431
|
|
NM_001845.6(COL4A1):c.652-16A>G
|
|
|
NM_001845.6(COL4A1):c.652-6C>G
|
|
|
NM_001845.6(COL4A1):c.665T>G (p.Leu222Ter)
|
|
|
NM_001845.6(COL4A1):c.674A>G (p.Gln225Arg)
|
rs2139200708
|
|
NM_001845.6(COL4A1):c.679C>T (p.Pro227Ser)
|
|
|
NM_001845.6(COL4A1):c.67A>G (p.Ser23Gly)
|
|
|
NM_001845.6(COL4A1):c.686del (p.Gly229fs)
|
|
|
NM_001845.6(COL4A1):c.692A>T (p.Lys231Met)
|
|
|
NM_001845.6(COL4A1):c.693+14G>T
|
|
|
NM_001845.6(COL4A1):c.693+98_693+99del
|
rs35092560
|
|
NM_001845.6(COL4A1):c.694-10A>C
|
|
|
NM_001845.6(COL4A1):c.694-16A>G
|
|
|
NM_001845.6(COL4A1):c.694-19T>C
|
|
|
NM_001845.6(COL4A1):c.694-6C>T
|
|
|
NM_001845.6(COL4A1):c.706G>A (p.Val236Ile)
|
|
|
NM_001845.6(COL4A1):c.70C>G (p.Arg24Gly)
|
|
|
NM_001845.6(COL4A1):c.70C>T (p.Arg24Trp)
|
|
|
NM_001845.6(COL4A1):c.719C>A (p.Pro240Gln)
|
rs2139199218
|
|
NM_001845.6(COL4A1):c.71G>C (p.Arg24Pro)
|
|
|
NM_001845.6(COL4A1):c.720A>T (p.Pro240=)
|
|
|
NM_001845.6(COL4A1):c.74C>G (p.Ala25Gly)
|
|
|
NM_001845.6(COL4A1):c.75C>T (p.Ala25=)
|
|
|
NM_001845.6(COL4A1):c.761T>C (p.Phe254Ser)
|
|
|
NM_001845.6(COL4A1):c.763G>A (p.Ala255Thr)
|
|
|
NM_001845.6(COL4A1):c.780+3A>G
|
|
|
NM_001845.6(COL4A1):c.781-13C>G
|
|
|
NM_001845.6(COL4A1):c.781-13C>T
|
|
|
NM_001845.6(COL4A1):c.781-16T>C
|
|
|
NM_001845.6(COL4A1):c.781-18TC[2]
|
|
|
NM_001845.6(COL4A1):c.781-226G>A
|
rs541055731
|
|
NM_001845.6(COL4A1):c.781-4T>G
|
|
|
NM_001845.6(COL4A1):c.781-6T>A
|
|
|
NM_001845.6(COL4A1):c.781-79del
|
rs60585275
|
|
NM_001845.6(COL4A1):c.781-7C>T
|
|
|
NM_001845.6(COL4A1):c.781-90dup
|
rs60585275
|
|
NM_001845.6(COL4A1):c.783C>T (p.Gly261=)
|
rs2139198480
|
|
NM_001845.6(COL4A1):c.791G>A (p.Gly264Asp)
|
|
|
NM_001845.6(COL4A1):c.7C>T (p.Pro3Ser)
|
|
|
NM_001845.6(COL4A1):c.801A>C (p.Gly267=)
|
rs1566374260
|
|
NM_001845.6(COL4A1):c.803T>A (p.Phe268Tyr)
|
rs2139198460
|
|
NM_001845.6(COL4A1):c.807+9T>C
|
|
|
NM_001845.6(COL4A1):c.808-16T>C
|
rs750121255
|
|
NM_001845.6(COL4A1):c.808-16T>G
|
|
|
NM_001845.6(COL4A1):c.808-20T>G
|
|
|
NM_001845.6(COL4A1):c.808-29_808-28dup
|
rs537338028
|
|
NM_001845.6(COL4A1):c.808-7C>A
|
rs9588116
|
|
NM_001845.6(COL4A1):c.808-7C>G
|
rs9588116
|
|
NM_001845.6(COL4A1):c.808-8C>T
|
|
|
NM_001845.6(COL4A1):c.808-8_808-7delinsTG
|
rs2139198251
|
|
NM_001845.6(COL4A1):c.813G>A (p.Met271Ile)
|
|
|
NM_001845.6(COL4A1):c.814C>T (p.Pro272Ser)
|
|
|
NM_001845.6(COL4A1):c.818G>C (p.Gly273Ala)
|
|
|
NM_001845.6(COL4A1):c.822C>T (p.Val274=)
|
|
|
NM_001845.6(COL4A1):c.823G>A (p.Gly275Arg)
|
|
|
NM_001845.6(COL4A1):c.829A>G (p.Lys277Glu)
|
|
|
NM_001845.6(COL4A1):c.838C>T (p.Pro280Ser)
|
|
|
NM_001845.6(COL4A1):c.84+9C>G
|
rs772306069
|
|
NM_001845.6(COL4A1):c.840C>G (p.Pro280=)
|
|
|
NM_001845.6(COL4A1):c.840C>T (p.Pro280=)
|
|
|
NM_001845.6(COL4A1):c.843A>C (p.Gly281=)
|
|
|
NM_001845.6(COL4A1):c.85-13C>A
|
|
|
NM_001845.6(COL4A1):c.85-14T>C
|
|
|
NM_001845.6(COL4A1):c.85-15T>C
|
|
|
NM_001845.6(COL4A1):c.85-18G>A
|
|
|
NM_001845.6(COL4A1):c.85-19A>G
|
|
|
NM_001845.6(COL4A1):c.85-227del
|
rs146789274
|
|
NM_001845.6(COL4A1):c.85-2A>T
|
|
|
NM_001845.6(COL4A1):c.85-4C>T
|
|
|
NM_001845.6(COL4A1):c.857G>C (p.Arg286Thr)
|
|
|
NM_001845.6(COL4A1):c.859-12T>C
|
|
|
NM_001845.6(COL4A1):c.859-15A>G
|
|
|
NM_001845.6(COL4A1):c.859-17A>C
|
rs1485417066
|
|
NM_001845.6(COL4A1):c.859-49C>T
|
rs186146235
|
|
NM_001845.6(COL4A1):c.862_866del (p.Lys288fs)
|
rs1566373199
|
|
NM_001845.6(COL4A1):c.868G>A (p.Gly290Arg)
|
|
|
NM_001845.6(COL4A1):c.876T>C (p.Asp292=)
|
|
|
NM_001845.6(COL4A1):c.891A>G (p.Glu297=)
|
|
|
NM_001845.6(COL4A1):c.896G>T (p.Gly299Val)
|
|
|
NM_001845.6(COL4A1):c.897del (p.Ser300fs)
|
|
|
NM_001845.6(COL4A1):c.903+10_903+11insTTGTATTTTTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATG
|
|
|
NM_001845.6(COL4A1):c.903+10dup
|
|
|
NM_001845.6(COL4A1):c.903+18_903+19delinsAG
|
|
|
NM_001845.6(COL4A1):c.903+1G>A
|
|
|
NM_001845.6(COL4A1):c.903+23_903+24insTTCTCTGTGGTTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNACTTCTGGCGCCCGCCAATACGCCCGGCTTATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATG
|
|
|
NM_001845.6(COL4A1):c.903+2dup
|
rs1162426605
|
|
NM_001845.6(COL4A1):c.903+7G>T
|
|
|
NM_001845.6(COL4A1):c.903+8_903+9insAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATG
|
|
|
NM_001845.6(COL4A1):c.903+8_903+9insATTTTTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATG
|
|
|
NM_001845.6(COL4A1):c.904-14C>G
|
rs370532499
|
|
NM_001845.6(COL4A1):c.904-14C>T
|
|
|
NM_001845.6(COL4A1):c.904-16C>G
|
|
|
NM_001845.6(COL4A1):c.904-6T>A
|
|
|
NM_001845.6(COL4A1):c.904-8G>A
|
rs767732094
|
|
NM_001845.6(COL4A1):c.904-8G>T
|
|
|
NM_001845.6(COL4A1):c.912T>A (p.Pro304=)
|
rs770951433
|
|
NM_001845.6(COL4A1):c.919C>T (p.Pro307Ser)
|
|
|
NM_001845.6(COL4A1):c.928C>A (p.Pro310Thr)
|
|
|
NM_001845.6(COL4A1):c.92G>T (p.Cys31Phe)
|
|
|
NM_001845.6(COL4A1):c.930A>C (p.Pro310=)
|
|
|
NM_001845.6(COL4A1):c.943C>T (p.Arg315Cys)
|
rs1057517719
|
|
NM_001845.6(COL4A1):c.944G>A (p.Arg315His)
|
|
|
NM_001845.6(COL4A1):c.944G>T (p.Arg315Leu)
|
rs768184025
|
|
NM_001845.6(COL4A1):c.948G>A (p.Gln316=)
|
|
|
NM_001845.6(COL4A1):c.954G>A (p.Pro318=)
|
rs779515095
|
|
NM_001845.6(COL4A1):c.957+14C>T
|
|
|
NM_001845.6(COL4A1):c.957+19G>A
|
|
|
NM_001845.6(COL4A1):c.958-10T>C
|
rs766495795
|
|
NM_001845.6(COL4A1):c.958-131T>C
|
rs648263
|
|
NM_001845.6(COL4A1):c.958-18T>G
|
|
|
NM_001845.6(COL4A1):c.958-242_958-239del
|
rs58390470
|
|
NM_001845.6(COL4A1):c.958-5del
|
|
|
NM_001845.6(COL4A1):c.958-5dup
|
rs749003041
|
|
NM_001845.6(COL4A1):c.958-9del
|
|
|
NM_001845.6(COL4A1):c.961G>A (p.Glu321Lys)
|
rs2139194019
|
|
NM_001845.6(COL4A1):c.964A>G (p.Lys322Glu)
|
|
|
NM_001845.6(COL4A1):c.970G>A (p.Glu324Lys)
|
|
|
NM_001845.6(COL4A1):c.974C>T (p.Ala325Val)
|
|
|
NM_001845.6(COL4A1):c.97G>T (p.Gly33Cys)
|
|
|
NM_001845.6(COL4A1):c.989C>T (p.Pro330Leu)
|
|
|
NM_001845.6(COL4A1):c.98G>C (p.Gly33Ala)
|
|
|
NM_001845.6(COL4A1):c.995G>C (p.Gly332Ala)
|
rs1228232315
|
|
NM_001845.6(COL4A1):c.997A>G (p.Ile333Val)
|
|
|
NM_001845.6(COL4A1):c.999+236C>A
|
rs538390
|
|
Single allele
|
|
|