ClinVar Miner

List of variants in gene COL5A1 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 967
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000093.5(COL5A1):c.-247T>G rs71483234 0.99656
NM_000093.5(COL5A1):c.1390-305C>T rs7031437 0.97630
NM_000093.5(COL5A1):c.2646+144T>C rs3124934 0.96592
NM_000093.5(COL5A1):c.3258+156A>G rs7851471 0.69415
NM_000093.5(COL5A1):c.2844+163T>G rs3811162 0.66569
NM_000093.5(COL5A1):c.2800-172T>C rs10776902 0.66479
NM_000093.5(COL5A1):c.2799+153C>T rs4842167 0.66178
NM_000093.5(COL5A1):c.2745+66A>G rs4072882 0.65546
NM_000093.5(COL5A1):c.2701-22C>T rs4072883 0.65253
NM_000093.5(COL5A1):c.1332+92C>G rs3124310 0.64521
NM_000093.5(COL5A1):c.4122+108T>C rs4841934 0.64323
NM_000093.5(COL5A1):c.3691-237T>A rs10745387 0.63434
NM_000093.5(COL5A1):c.3907-258A>G rs4841933 0.63332
NM_000093.5(COL5A1):c.2134-116T>C rs4842159 0.62628
NM_000093.5(COL5A1):c.3852+224G>A rs7874142 0.62280
NM_000093.5(COL5A1):c.4230+103T>C rs11792894 0.61932
NM_000093.5(COL5A1):c.3006+179C>A rs10858281 0.61690
NM_000093.5(COL5A1):c.110-271C>T rs10858268 0.59224
NM_000093.5(COL5A1):c.492-56T>C rs4341231 0.58442
NM_000093.5(COL5A1):c.110-178G>A rs16832 0.57909
NM_000093.5(COL5A1):c.1432-5T>C rs3128612 0.57159
NM_000093.5(COL5A1):c.1432-24C>T rs3109677 0.57123
NM_000093.5(COL5A1):c.654+213C>T rs3922644 0.56789
NM_000093.5(COL5A1):c.2845-70A>G rs3811160 0.54556
NM_000093.5(COL5A1):c.2845-117A>G rs3811161 0.51750
NM_000093.5(COL5A1):c.2899-318A>G rs10745385 0.51352
NM_000093.5(COL5A1):c.2899-261G>A rs10776905 0.51351
NM_000093.5(COL5A1):c.2952+11A>T rs4240707 0.51337
NM_000093.5(COL5A1):c.2952+109_2952+192del rs377172921 0.50808
NM_000093.5(COL5A1):c.3852+62C>G rs7856170 0.50381
NM_000093.5(COL5A1):c.4446+62G>A rs10745388 0.48801
NM_000093.5(COL5A1):c.2845-37A>G rs3811159 0.48658
NM_000093.5(COL5A1):c.3528+55G>A rs3827849 0.48522
NM_000093.5(COL5A1):c.4176+48A>G rs10858283 0.47462
NM_000093.5(COL5A1):c.4176+35A>C rs10776910 0.47443
NM_000093.5(COL5A1):c.3475-299A>G rs3811153 0.44669
NM_000093.5(COL5A1):c.3474+255G>A rs11103536 0.42977
NM_000093.5(COL5A1):c.1332+46T>C rs3109675 0.41683
NM_000093.5(COL5A1):c.1164+134A>C rs3128600 0.40954
NM_000093.5(COL5A1):c.786+182T>G rs3109683 0.39446
NM_000093.3(COL5A1):c.-400C>G rs12002679 0.39350
NM_000093.5(COL5A1):c.787-42C>T rs3124302 0.39339
NM_000093.5(COL5A1):c.1165-149C>T rs3124309 0.39306
NM_000093.5(COL5A1):c.787-180G>A rs3128595 0.39304
NM_000093.5(COL5A1):c.925-49A>G rs3124308 0.39183
NM_000093.5(COL5A1):c.925-43G>A rs3128598 0.39167
NM_000093.5(COL5A1):c.2898+116G>A rs72774465 0.39049
NM_000093.5(COL5A1):c.786+271G>C rs3128587 0.38975
NM_000093.5(COL5A1):c.654+201C>T rs3922643 0.38719
NM_000093.5(COL5A1):c.2233-62G>T rs4842162 0.38133
NM_000093.5(COL5A1):c.655-320G>A rs62571354 0.37510
NM_000093.5(COL5A1):c.2286+66A>G rs10776900 0.37340
NM_000093.5(COL5A1):c.2286+146T>C rs10776901 0.37322
NM_000093.5(COL5A1):c.2430+20C>T rs3124932 0.36473
NM_000093.5(COL5A1):c.655-142G>A rs3124298 0.36165
NM_000093.5(COL5A1):c.738C>T (p.Thr246=) rs3124299 0.34823
NM_000093.5(COL5A1):c.4230+118C>T rs7847840 0.32683
NM_000093.5(COL5A1):c.2187+106A>T rs4842160 0.32064
NM_000093.5(COL5A1):c.4176+9T>G rs10858282 0.31743
NM_000093.5(COL5A1):c.2287-260T>G rs12685359 0.28458
NM_000093.5(COL5A1):c.2331+191G>C rs7470855 0.28320
NM_000093.5(COL5A1):c.1720-48T>C rs10123014 0.27505
NM_000093.5(COL5A1):c.3367-280T>G rs11103534 0.23071
NM_000093.5(COL5A1):c.3475-42G>C rs3811152 0.22492
NM_000093.5(COL5A1):c.1570-59T>C rs12686426 0.22376
NM_000093.5(COL5A1):c.1720-157C>T rs73664130 0.21507
NM_000093.5(COL5A1):c.1720-34C>T rs73558067 0.20873
NM_000093.5(COL5A1):c.1720-111G>A rs73558066 0.20841
NM_000093.5(COL5A1):c.2332-291G>A rs4842165 0.20572
NM_000093.5(COL5A1):c.2898+179C>T rs7863390 0.20363
NM_000093.5(COL5A1):c.1332+25C>T rs56385965 0.19286
NM_000093.5(COL5A1):c.4177-107T>C rs7854010 0.19207
NM_000093.5(COL5A1):c.1774-73A>G rs11103501 0.19007
NM_000093.5(COL5A1):c.1827+295A>G rs12685536 0.18961
NM_000093.5(COL5A1):c.2386-134A>G rs34589987 0.18077
NM_000093.5(COL5A1):c.2431-122A>G rs34489567 0.16756
NM_000093.5(COL5A1):c.2484+196T>C rs35361637 0.16720
NM_000093.5(COL5A1):c.2431-25G>A rs41310213 0.16712
NM_000093.5(COL5A1):c.2592+148T>G rs12005196 0.16554
NM_000093.5(COL5A1):c.2431-172T>C rs59126004 0.16442
NM_000093.5(COL5A1):c.1663-170_1663-169insA rs1554792424 0.16319
NM_000093.5(COL5A1):c.2593-253A>C rs34089816 0.16263
NM_000093.5(COL5A1):c.2485-33T>G rs117948766 0.16181
NM_000093.5(COL5A1):c.1720-47C>T rs79679217 0.15948
NM_000093.5(COL5A1):c.3007-216G>A rs3811155 0.15408
NM_000093.5(COL5A1):c.1827+45G>A rs11103502 0.15221
NM_000093.5(COL5A1):c.1663-237G>A rs4842150 0.15184
NM_000093.5(COL5A1):c.4231-240G>A rs3811148 0.14915
NM_000093.5(COL5A1):c.2646+126T>C rs12005720 0.14817
NM_000093.5(COL5A1):c.2899-273C>T rs62571397 0.14675
NM_000093.5(COL5A1):c.4122G>A (p.Thr1374=) rs3827848 0.14130
NM_000093.5(COL5A1):c.2898+163G>T rs7851810 0.13940
NM_000093.5(COL5A1):c.1662+252G>A rs12345547 0.13798
NM_000093.5(COL5A1):c.2134-124G>A rs4842158 0.13174
NM_000093.5(COL5A1):c.1936-35C>A rs10858278 0.13121
NM_000093.5(COL5A1):c.1936-54A>C rs11103508 0.13116
NM_000093.5(COL5A1):c.1990-109C>T rs7040856 0.13115
NM_000093.5(COL5A1):c.1936-119G>T rs11103506 0.13114
NM_000093.5(COL5A1):c.1936-146T>C rs11103505 0.13114
NM_000093.5(COL5A1):c.1936-108G>A rs11103507 0.13104
NM_000093.5(COL5A1):c.2034+154G>A rs7032288 0.13073
NM_000093.5(COL5A1):c.1989+279T>C rs11103509 0.12217
NM_000093.5(COL5A1):c.2485-183T>A rs7865167 0.11222
NM_000093.5(COL5A1):c.2485-147G>C rs7873607 0.11196
NM_000093.5(COL5A1):c.277+74A>G rs12551860 0.11084
NM_000093.5(COL5A1):c.3529-60C>G rs73664147 0.11079
NM_000093.5(COL5A1):c.2485-160C>T rs7855854 0.11027
NM_000093.5(COL5A1):c.2485-146T>C rs7865186 0.11019
NM_000093.5(COL5A1):c.4122+287G>A rs9942862 0.10993
NM_000093.5(COL5A1):c.3745-37G>A rs45629034 0.10800
NM_000093.5(COL5A1):c.3745-18G>A rs45556931 0.10766
NM_000093.5(COL5A1):c.1936-227C>T rs11103504 0.10378
NM_000093.5(COL5A1):c.2034+256C>T rs73664133 0.09912
NM_000093.5(COL5A1):c.2485-40C>T rs76391270 0.09667
NM_000093.5(COL5A1):c.1569+27G>C rs41299046 0.09221
NM_000093.5(COL5A1):c.2484+118G>A rs55633279 0.09175
NM_000093.5(COL5A1):c.492-280C>T rs10858272 0.09126
NM_000093.5(COL5A1):c.2592+293A>G rs12004736 0.08587
NM_000093.5(COL5A1):c.2592+209T>C rs12005214 0.08559
NM_000093.5(COL5A1):c.2592+288C>T rs12003876 0.08547
NM_000093.5(COL5A1):c.3367-30G>A rs11103535 0.08424
NM_000093.5(COL5A1):c.2593-45G>A rs45497895 0.08250
NM_000093.5(COL5A1):c.1092C>T (p.Pro364=) rs41306391 0.08110
NM_000093.5(COL5A1):c.654+73G>A rs4523334 0.07864
NM_000093.5(COL5A1):c.2646+27C>T rs13301426 0.07414
NM_000093.5(COL5A1):c.1774-131C>T rs10121103 0.07243
NM_000093.5(COL5A1):c.110-34C>T rs72772548 0.07019
NM_000093.5(COL5A1):c.3852+181A>G rs73664148 0.06898
NM_000093.5(COL5A1):c.2430+290A>G rs34226173 0.06728
NM_000093.5(COL5A1):c.491+271C>T rs11103470 0.06592
NM_000093.5(COL5A1):c.2701-103C>A rs41306388 0.06560
NM_000093.5(COL5A1):c.1431G>A (p.Ala477=) rs61729545 0.06122
NM_000093.5(COL5A1):c.1828-170C>T rs12004527 0.06076
NM_000093.5(COL5A1):c.1990-219G>A rs11103510 0.05935
NM_000093.5(COL5A1):c.2089-210A>G rs12338381 0.05529
NM_000093.5(COL5A1):c.2385+250G>T rs72774445 0.05383
NM_000093.5(COL5A1):c.1935+133A>T rs79294927 0.05249
NM_000093.5(COL5A1):c.2287-203C>T rs12378156 0.05234
NM_000093.5(COL5A1):c.2646+287G>A rs13286048 0.05214
NM_000093.5(COL5A1):c.4446+134A>C rs9696591 0.05205
NM_000093.5(COL5A1):c.2088+231C>G rs4842156 0.05127
NM_000093.5(COL5A1):c.3529-172G>A rs73664146 0.05055
NM_000093.5(COL5A1):c.2089-288C>T rs79878246 0.05022
NM_000093.5(COL5A1):c.4231-183G>A rs73664150 0.04882
NM_000093.5(COL5A1):c.3474+64G>A rs41310211 0.04849
NM_000093.5(COL5A1):c.2745+15A>T rs79481146 0.04340
NM_000093.5(COL5A1):c.2701-301G>A rs75633644 0.04314
NM_000093.5(COL5A1):c.3258+258T>C rs72774468 0.04204
NM_000093.5(COL5A1):c.1390-259G>A rs78731511 0.04043
NM_000093.5(COL5A1):c.1882-56G>A rs77607202 0.04010
NM_000093.5(COL5A1):c.491+92C>T rs11103469 0.03985
NM_000093.5(COL5A1):c.278-224T>C rs79433864 0.03948
NM_000093.5(COL5A1):c.2592+298G>A rs71506922 0.03939
NM_000093.5(COL5A1):c.3528+72T>A rs34963836 0.03939
NM_000093.5(COL5A1):c.3528+95G>A rs34571096 0.03934
NM_000093.5(COL5A1):c.3475-228A>G rs13297317 0.03933
NM_000093.5(COL5A1):c.3475-66C>T rs13289529 0.03930
NM_000093.5(COL5A1):c.3528+295T>C rs34766531 0.03930
NM_000093.5(COL5A1):c.3528+155G>A rs34469754 0.03928
NM_000093.5(COL5A1):c.3475-179A>C rs13297349 0.03925
NM_000093.5(COL5A1):c.3528+234C>T rs34313900 0.03925
NM_000093.5(COL5A1):c.3475-36A>C rs13297647 0.03921
NM_000093.5(COL5A1):c.3528+43G>A rs41306395 0.03911
NM_000093.5(COL5A1):c.3691-213T>C rs13293801 0.03911
NM_000093.5(COL5A1):c.1935+127G>C rs56125517 0.03894
NM_000093.5(COL5A1):c.2331+140G>A rs34911100 0.03892
NM_000093.5(COL5A1):c.2700+46C>T rs34636935 0.03889
NM_000093.5(COL5A1):c.3259-22C>T rs78743504 0.03819
NM_000093.5(COL5A1):c.1165-39G>A rs76548907 0.03667
NM_000093.5(COL5A1):c.4230+212C>T rs34816825 0.03648
NM_000093.5(COL5A1):c.4231-228G>A rs77174824 0.03495
NM_000093.5(COL5A1):c.3258+150A>G rs62571404 0.03394
NM_000093.5(COL5A1):c.491+208T>A rs7857638 0.03354
NM_000093.5(COL5A1):c.2799+22C>T rs76855839 0.03193
NM_000093.5(COL5A1):c.2088+73G>A rs12351135 0.03172
NM_000093.5(COL5A1):c.2892C>T (p.Gly964=) rs78511105 0.03168
NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045 0.03116
NM_000093.5(COL5A1):c.4176+163T>A rs76226836 0.03071
NM_000093.5(COL5A1):c.3007-96G>A rs41311216 0.03030
NM_000093.5(COL5A1):c.1827+94G>T rs78098946 0.03020
NM_000093.5(COL5A1):c.787-99G>A rs41310209 0.02988
NM_000093.5(COL5A1):c.3007-36C>G rs73561924 0.02919
NM_000093.5(COL5A1):c.2088+91C>T rs111995030 0.02856
NM_000093.5(COL5A1):c.1828-297T>C rs10124864 0.02813
NM_000093.5(COL5A1):c.1390-277C>T rs79210210 0.02804
NM_000093.5(COL5A1):c.4230+6G>A rs77176843 0.02700
NM_000093.5(COL5A1):c.277+57A>G rs141489397 0.02688
NM_000093.5(COL5A1):c.2286+223G>C rs72774437 0.02606
NM_000093.5(COL5A1):c.4393-9C>T rs11792181 0.02555
NM_000093.5(COL5A1):c.787-181C>T rs111936833 0.02537
NM_000093.5(COL5A1):c.2724G>A (p.Pro908=) rs41310207 0.02534
NM_000093.5(COL5A1):c.2485-90T>C rs62571363 0.02483
NM_000093.5(COL5A1):c.2232+36C>T rs45622539 0.02468
NM_000093.5(COL5A1):c.1935+8T>G rs79195626 0.02373
NM_000093.5(COL5A1):c.1882-133A>G rs113765880 0.02356
NM_000093.5(COL5A1):c.1882-256C>T rs75558962 0.02342
NM_000093.5(COL5A1):c.3367-86C>T rs62571406 0.02305
NM_000093.5(COL5A1):c.574G>A (p.Asp192Asn) rs138579182 0.02227
NM_000093.5(COL5A1):c.2646+91C>T rs62571364 0.02213
NM_000093.5(COL5A1):c.2332-177G>A rs72774444 0.02183
NM_000093.5(COL5A1):c.1164+94C>T rs113401160 0.02154
NM_000093.5(COL5A1):c.3366+52G>A rs115451002 0.02142
NM_000093.5(COL5A1):c.2430+196C>T rs75545068 0.02124
NM_000093.5(COL5A1):c.924+148G>C rs114738957 0.02067
NM_000093.5(COL5A1):c.1936-299C>T rs77630402 0.02064
NM_000093.5(COL5A1):c.655-106G>A rs116164506 0.02060
NM_000093.5(COL5A1):c.2034+24C>T rs41298367 0.02041
NM_000093.5(COL5A1):c.2844+41G>T rs76043837 0.02031
NM_000093.5(COL5A1):c.3853-125C>A rs191746934 0.01995
NM_000093.5(COL5A1):c.2431-289C>G rs62574086 0.01960
NM_000093.5(COL5A1):c.1164+87T>A rs142673093 0.01946
NM_000093.5(COL5A1):c.2088+227G>A rs12351175 0.01940
NM_000093.5(COL5A1):c.2187+101C>T rs72774432 0.01912
NM_000093.5(COL5A1):c.3366+245C>A rs138196691 0.01790
NM_000093.5(COL5A1):c.109+37G>A rs186654380 0.01789
NM_000093.5(COL5A1):c.2701-186T>C rs114433844 0.01740
NM_000093.5(COL5A1):c.654+105G>A rs138162275 0.01724
NM_000093.5(COL5A1):c.924+35C>A rs112243377 0.01719
NM_000093.5(COL5A1):c.4014+209A>G rs62571407 0.01660
NM_000093.5(COL5A1):c.2953-301G>C rs62571400 0.01645
NM_000093.5(COL5A1):c.3115-108C>T rs62571403 0.01641
NM_000093.5(COL5A1):c.1389+139G>A rs114940455 0.01478
NM_000093.5(COL5A1):c.492-274C>T rs72772558 0.01458
NM_000093.5(COL5A1):c.2799+33G>A rs111253752 0.01433
NM_000093.5(COL5A1):c.109+296A>G rs117721261 0.01402
NM_000093.5(COL5A1):c.1773+130C>T rs78092926 0.01398
NM_000093.5(COL5A1):c.925-63C>T rs77043106 0.01369
NM_000093.5(COL5A1):c.-180C>A rs188194985 0.01327
NM_000093.5(COL5A1):c.492-76C>G rs73665738 0.01306
NM_000093.5(COL5A1):c.2592+314C>T rs3124933 0.01279
NM_000093.5(COL5A1):c.2799+4T>C rs75815945 0.01279
NM_000093.5(COL5A1):c.2287-180G>A rs147488096 0.01273
NM_000093.5(COL5A1):c.1828-79T>G rs112173023 0.01267
NM_000093.5(COL5A1):c.277+146G>A rs78716219 0.01253
NM_000093.5(COL5A1):c.924+297C>A rs146783021 0.01226
NM_000093.5(COL5A1):c.1882-272C>T rs116091044 0.01224
NM_000093.5(COL5A1):c.2646+138G>A rs114207653 0.01179
NM_000093.5(COL5A1):c.2646+260A>G rs148809103 0.01178
NM_000093.5(COL5A1):c.3906+34A>G rs113940604 0.01101
NM_000093.5(COL5A1):c.4230+52C>T rs72774474 0.01068
NM_000093.5(COL5A1):c.925-180C>T rs187927679 0.01000
NM_000093.5(COL5A1):c.2953-46C>T rs138964558 0.00995
NM_000093.5(COL5A1):c.2852A>G (p.Asn951Ser) rs61736966 0.00972
NM_000093.5(COL5A1):c.2485-201C>T rs138282798 0.00959
NM_000093.5(COL5A1):c.2952+216C>T rs142981679 0.00959
NM_000093.5(COL5A1):c.4123-302C>G rs115918918 0.00920
NM_000093.5(COL5A1):c.4123-303C>A rs116404572 0.00920
NM_000093.5(COL5A1):c.4122+97C>A rs79991766 0.00913
NM_000093.5(COL5A1):c.4177-151G>T rs113755365 0.00893
NM_000093.5(COL5A1):c.4015-212C>T rs144404774 0.00881
NM_000093.5(COL5A1):c.-110A>G rs180741151 0.00852
NM_000093.5(COL5A1):c.2647-250C>T rs377726116 0.00748
NM_000093.5(COL5A1):c.2431-295_2431-294del rs552255261 0.00730
NM_000093.5(COL5A1):c.1773+146G>A rs144431377 0.00709
NM_000093.5(COL5A1):c.3258+292G>A rs148175755 0.00707
NM_000093.5(COL5A1):c.3853-50G>A rs7849016 0.00706
NM_000093.5(COL5A1):c.787-15G>A rs150200872 0.00704
NM_000093.5(COL5A1):c.1881+173G>A rs143376583 0.00687
NM_000093.5(COL5A1):c.1936-170G>A rs143621182 0.00682
NM_000093.5(COL5A1):c.2485-199G>A rs141771518 0.00656
NM_000093.5(COL5A1):c.3259-99A>T rs78713145 0.00651
NC_000009.12:g.134641511C>G rs77163533 0.00640
NM_000093.5(COL5A1):c.1165-68G>A rs371233552 0.00634
NM_000093.5(COL5A1):c.2134-182G>C rs76511953 0.00629
NM_000093.5(COL5A1):c.4068+117A>G rs148792483 0.00613
NM_000093.5(COL5A1):c.2898+114C>T rs139330287 0.00599
NM_000093.5(COL5A1):c.4135C>T (p.Pro1379Ser) rs61739195 0.00598
NM_000093.5(COL5A1):c.2430+41C>T rs149516949 0.00568
NM_000093.5(COL5A1):c.1390-306G>C rs188218083 0.00563
NM_000093.5(COL5A1):c.3367-281C>T rs188531160 0.00546
NM_000093.5(COL5A1):c.4231-12G>A rs188473199 0.00543
NM_000093.5(COL5A1):c.1989+182C>T rs41306393 0.00528
NM_000093.5(COL5A1):c.3690+44C>T rs76739261 0.00524
NM_000093.5(COL5A1):c.1719+264C>T rs142513996 0.00519
NM_000093.5(COL5A1):c.4230+219A>G rs146586401 0.00519
NM_000093.5(COL5A1):c.4393-17C>T rs141152269 0.00515
NM_000093.5(COL5A1):c.787-41G>A rs141083858 0.00513
NM_000093.5(COL5A1):c.655-328G>T rs112927487 0.00511
NM_000093.5(COL5A1):c.-37G>A rs374979485 0.00508
NM_000093.5(COL5A1):c.4339-22G>T rs193107550 0.00508
NM_000093.5(COL5A1):c.4446+209C>T rs142107844 0.00508
NM_000093.5(COL5A1):c.4177-187C>G rs115441854 0.00504
NM_000093.5(COL5A1):c.3115-67G>A rs114607788 0.00498
NM_000093.5(COL5A1):c.924+293C>G rs80138457 0.00495
NM_000093.5(COL5A1):c.3852+303C>T rs58905574 0.00494
NM_000093.5(COL5A1):c.1935+75C>T rs76579401 0.00482
NM_000093.5(COL5A1):c.2700+187T>C rs117568331 0.00471
NM_000093.5(COL5A1):c.-382C>G rs555826102 0.00465
NM_000093.5(COL5A1):c.3744+39C>T rs192855430 0.00459
NM_000093.5(COL5A1):c.924+322G>A rs113627102 0.00436
NM_000093.5(COL5A1):c.4015-30C>T rs375387898 0.00427
NM_000093.5(COL5A1):c.277+157G>A rs116455469 0.00425
NM_000093.5(COL5A1):c.2593-252G>T rs139465852 0.00415
NM_000093.5(COL5A1):c.3258+153C>T rs190630304 0.00400
NM_000093.5(COL5A1):c.2646+216G>A rs147295959 0.00390
NM_000093.5(COL5A1):c.110-148C>T rs149632687 0.00379
NM_000093.5(COL5A1):c.491+36G>C rs150536688 0.00372
NM_000093.5(COL5A1):c.1333-8A>G rs145620416 0.00360
NM_000093.5(COL5A1):c.3744+47G>A rs147508352 0.00358
NM_000093.5(COL5A1):c.1720-208G>A rs149251155 0.00349
NM_000093.5(COL5A1):c.4068+28G>A rs76835381 0.00343
NC_000009.12:g.134641590C>T rs12002283 0.00340
NM_000093.5(COL5A1):c.2439C>T (p.Asp813=) rs148648778 0.00340
NM_000093.5(COL5A1):c.277+70G>A rs146331857 0.00340
NM_000093.5(COL5A1):c.277+294C>T rs76266800 0.00337
NM_000093.5(COL5A1):c.-249G>A rs574222596 0.00331
NM_000093.5(COL5A1):c.491+124C>T rs575232283 0.00324
NM_000093.5(COL5A1):c.4069-43T>A rs200969184 0.00320
NM_000093.5(COL5A1):c.278C>T (p.Ala93Val) rs41306397 0.00315
NM_000093.5(COL5A1):c.1495-106A>G rs12349813 0.00314
NM_000093.5(COL5A1):c.573C>T (p.Leu191=) rs116715381 0.00312
NM_000093.5(COL5A1):c.2089-236C>T rs189006287 0.00298
NM_000093.5(COL5A1):c.4446+298G>A rs139747118 0.00277
NM_000093.5(COL5A1):c.2484+25G>C rs200239457 0.00253
NM_000093.5(COL5A1):c.4410C>T (p.Pro1470=) rs41310953 0.00253
NM_000093.5(COL5A1):c.4176+50A>C rs571141215 0.00232
NM_000093.5(COL5A1):c.1432-32T>C rs75398357 0.00201
NM_000093.5(COL5A1):c.1165-43G>A rs200587485 0.00195
NM_000093.5(COL5A1):c.1158C>T (p.Ser386=) rs61729497 0.00194
NM_000093.5(COL5A1):c.4230+5C>T rs142248898 0.00182
NM_000093.5(COL5A1):c.4446+39G>A rs113451014 0.00178
NM_000093.5(COL5A1):c.2695G>A (p.Gly899Ser) rs149964491 0.00176
NM_000093.5(COL5A1):c.4065C>T (p.Pro1355=) rs61737906 0.00164
NM_000093.5(COL5A1):c.194G>A (p.Arg65Gln) rs116003670 0.00162
NM_000093.5(COL5A1):c.3259-8C>T rs146461106 0.00159
NM_000093.5(COL5A1):c.193C>T (p.Arg65Trp) rs139468527 0.00124
NM_000093.5(COL5A1):c.3204+3G>A rs202054108 0.00112
NM_000093.5(COL5A1):c.1383C>T (p.Ile461=) rs61736827 0.00106
NM_000093.5(COL5A1):c.3855C>T (p.Gly1285=) rs139544503 0.00102
NM_000093.5(COL5A1):c.1953C>T (p.Ser651=) rs78215347 0.00101
NM_000093.5(COL5A1):c.61C>T (p.Pro21Ser) rs548525119 0.00094
NM_000093.5(COL5A1):c.2588A>T (p.Glu863Val) rs139788610 0.00087
NM_000093.5(COL5A1):c.3418G>A (p.Val1140Met) rs149616140 0.00087
NM_000093.5(COL5A1):c.1998C>T (p.Asp666=) rs143858735 0.00071
NM_000093.5(COL5A1):c.4066G>A (p.Ala1356Thr) rs147868179 0.00070
NM_000093.5(COL5A1):c.2031G>A (p.Glu677=) rs61737719 0.00062
NM_000093.5(COL5A1):c.2564C>G (p.Pro855Arg) rs150539264 0.00061
NM_000093.5(COL5A1):c.341C>A (p.Ala114Asp) rs147589613 0.00058
NM_000093.5(COL5A1):c.996C>T (p.Asp332=) rs144763302 0.00058
NM_000093.5(COL5A1):c.2096C>T (p.Thr699Met) rs142313124 0.00057
NM_000093.5(COL5A1):c.597C>G (p.Ile199Met) rs147008954 0.00054
NM_000093.5(COL5A1):c.3906+20G>A rs148053413 0.00047
NM_000093.5(COL5A1):c.126C>T (p.Leu42=) rs149369116 0.00040
NM_000093.5(COL5A1):c.2431-57C>T rs117990742 0.00038
NM_000093.5(COL5A1):c.3069C>T (p.Pro1023=) rs139070070 0.00038
NM_000093.5(COL5A1):c.3690+6T>A rs375998368 0.00038
NM_000093.5(COL5A1):c.3402C>T (p.Asp1134=) rs138251296 0.00037
NM_000093.5(COL5A1):c.598G>A (p.Asp200Asn) rs142890619 0.00034
NM_000093.5(COL5A1):c.3991G>A (p.Asp1331Asn) rs545973022 0.00033
NM_000093.5(COL5A1):c.3591C>T (p.Asp1197=) rs370349155 0.00031
NM_000093.5(COL5A1):c.367C>G (p.Gln123Glu) rs142114921 0.00031
NM_000093.5(COL5A1):c.3906+10C>T rs183881247 0.00030
NM_000093.5(COL5A1):c.3474+7C>T rs550497696 0.00028
NM_000093.5(COL5A1):c.4393-19C>T rs186732287 0.00024
NM_000093.5(COL5A1):c.1637C>T (p.Ala546Val) rs557361751 0.00022
NM_000093.5(COL5A1):c.1440C>T (p.Pro480=) rs150940930 0.00021
NM_000093.5(COL5A1):c.921C>T (p.Pro307=) rs144335980 0.00021
NM_000093.5(COL5A1):c.3649C>T (p.Pro1217Ser) rs139116598 0.00019
NM_000093.5(COL5A1):c.3983C>G (p.Pro1328Arg) rs140797509 0.00019
NM_000093.5(COL5A1):c.4162C>T (p.Pro1388Ser) rs61737942 0.00019
NM_000093.5(COL5A1):c.944C>T (p.Thr315Met) rs145093766 0.00019
NM_000093.5(COL5A1):c.3185G>A (p.Arg1062Gln) rs771807198 0.00018
NM_000093.5(COL5A1):c.279G>A (p.Ala93=) rs145090868 0.00017
NM_000093.5(COL5A1):c.3130G>A (p.Ala1044Thr) rs370143255 0.00016
NM_000093.5(COL5A1):c.4383C>T (p.Pro1461=) rs368551709 0.00016
NM_000093.5(COL5A1):c.680T>C (p.Val227Ala) rs376144196 0.00015
NM_000093.5(COL5A1):c.1295C>T (p.Pro432Leu) rs140943202 0.00014
NM_000093.5(COL5A1):c.2089-8G>A rs368595229 0.00014
NM_000093.5(COL5A1):c.2233-21G>C rs201112363 0.00014
NM_000093.5(COL5A1):c.36G>C (p.Ala12=) rs1029930975 0.00014
NM_000093.5(COL5A1):c.3906+19C>T rs571788196 0.00014
NM_000093.5(COL5A1):c.4121C>T (p.Thr1374Met) rs151115748 0.00014
NM_000093.5(COL5A1):c.1476C>T (p.Val492=) rs141093527 0.00013
NM_000093.5(COL5A1):c.1967C>T (p.Pro656Leu) rs748345448 0.00013
NM_000093.5(COL5A1):c.2845-17C>A rs368737278 0.00013
NM_000093.5(COL5A1):c.850G>A (p.Glu284Lys) rs75648697 0.00012
NM_000093.5(COL5A1):c.1345C>T (p.Arg449Trp) rs374020067 0.00011
NM_000093.5(COL5A1):c.1832G>A (p.Arg611Gln) rs200590188 0.00011
NM_000093.5(COL5A1):c.1888C>T (p.Arg630Trp) rs577618553 0.00011
NM_000093.5(COL5A1):c.2493C>T (p.Ile831=) rs199630108 0.00011
NM_000093.5(COL5A1):c.2677G>A (p.Ala893Thr) rs146195310 0.00011
NM_000093.5(COL5A1):c.3006+40G>A rs118152606 0.00011
NM_000093.5(COL5A1):c.3594C>T (p.Gly1198=) rs146176718 0.00011
NM_000093.5(COL5A1):c.1754C>T (p.Pro585Leu) rs530442560 0.00010
NM_000093.5(COL5A1):c.1889G>A (p.Arg630Gln) rs781667754 0.00010
NM_000093.5(COL5A1):c.1970C>T (p.Pro657Leu) rs149912828 0.00010
NM_000093.5(COL5A1):c.2038C>T (p.Pro680Ser) rs376920171 0.00010
NM_000093.5(COL5A1):c.2391C>T (p.Ala797=) rs142347159 0.00010
NM_000093.5(COL5A1):c.3936C>T (p.Gly1312=) rs367804791 0.00010
NM_000093.5(COL5A1):c.4067C>T (p.Ala1356Val) rs766796504 0.00010
NM_000093.5(COL5A1):c.1283C>T (p.Ser428Leu) rs770793962 0.00009
NM_000093.5(COL5A1):c.1303C>G (p.Pro435Ala) rs377488010 0.00009
NM_000093.5(COL5A1):c.1726C>T (p.Pro576Ser) rs763246328 0.00009
NM_000093.5(COL5A1):c.191C>T (p.Thr64Met) rs777376620 0.00009
NM_000093.5(COL5A1):c.2134-11G>C rs369317619 0.00009
NM_000093.5(COL5A1):c.292G>A (p.Glu98Lys) rs369126350 0.00009
NM_000093.5(COL5A1):c.3023C>T (p.Thr1008Met) rs199735010 0.00009
NM_000093.5(COL5A1):c.3345G>A (p.Pro1115=) rs764683617 0.00009
NM_000093.5(COL5A1):c.3491C>T (p.Pro1164Leu) rs368305377 0.00009
NM_000093.5(COL5A1):c.3691-9T>C rs187584029 0.00009
NM_000093.5(COL5A1):c.3870A>G (p.Ala1290=) rs541963919 0.00009
NM_000093.5(COL5A1):c.4172A>G (p.Lys1391Arg) rs201801000 0.00009
NM_000093.5(COL5A1):c.804C>T (p.Gly268=) rs147729713 0.00009
NM_000093.5(COL5A1):c.1495-11C>A rs199501759 0.00008
NM_000093.5(COL5A1):c.1507C>T (p.Arg503Cys) rs781485753 0.00008
NM_000093.5(COL5A1):c.3014C>T (p.Thr1005Met) rs201220311 0.00008
NM_000093.5(COL5A1):c.3110C>T (p.Thr1037Met) rs150487609 0.00008
NM_000093.5(COL5A1):c.3203T>G (p.Val1068Gly) rs372109796 0.00008
NM_000093.5(COL5A1):c.4241G>C (p.Gly1414Ala) rs556167410 0.00008
NM_000093.5(COL5A1):c.4307C>T (p.Pro1436Leu) rs752334702 0.00008
NM_000093.5(COL5A1):c.684G>A (p.Ser228=) rs139705205 0.00008
NM_000093.5(COL5A1):c.-4C>G rs769694875 0.00007
NM_000093.5(COL5A1):c.3111G>A (p.Thr1037=) rs758336822 0.00007
NM_000093.5(COL5A1):c.3115-10C>T rs1018752469 0.00007
NM_000093.5(COL5A1):c.3592G>A (p.Gly1198Ser) rs372499629 0.00007
NM_000093.5(COL5A1):c.467G>A (p.Arg156Gln) rs770896795 0.00007
NM_000093.5(COL5A1):c.65C>G (p.Pro22Arg) rs863223467 0.00007
NM_000093.5(COL5A1):c.754C>T (p.Pro252Ser) rs369781295 0.00007
NM_000093.5(COL5A1):c.1809C>T (p.Ala603=) rs371345820 0.00006
NM_000093.5(COL5A1):c.1831C>T (p.Arg611Trp) rs147329970 0.00006
NM_000093.5(COL5A1):c.2114C>T (p.Pro705Leu) rs375456811 0.00006
NM_000093.5(COL5A1):c.2281C>T (p.Pro761Ser) rs140486644 0.00006
NM_000093.5(COL5A1):c.2424C>T (p.Gly808=) rs139343205 0.00006
NM_000093.5(COL5A1):c.2655T>C (p.Ile885=) rs746323129 0.00006
NM_000093.5(COL5A1):c.2983C>A (p.Pro995Thr) rs187022757 0.00006
NM_000093.5(COL5A1):c.3231A>G (p.Glu1077=) rs376248130 0.00006
NM_000093.5(COL5A1):c.3258G>A (p.Ala1086=) rs372844807 0.00006
NM_000093.5(COL5A1):c.3465C>T (p.Asp1155=) rs145134399 0.00006
NM_000093.5(COL5A1):c.3939G>T (p.Glu1313Asp) rs886063676 0.00006
NM_000093.5(COL5A1):c.408C>T (p.Pro136=) rs376435758 0.00006
NM_000093.5(COL5A1):c.4231-9G>A rs570545638 0.00006
NM_000093.5(COL5A1):c.753C>T (p.Thr251=) rs374813957 0.00006
NM_000093.5(COL5A1):c.805G>A (p.Glu269Lys) rs761079177 0.00006
NM_000093.5(COL5A1):c.1165-8C>T rs770303209 0.00005
NM_000093.5(COL5A1):c.1228C>T (p.Arg410Trp) rs745360062 0.00005
NM_000093.5(COL5A1):c.1896C>T (p.Phe632=) rs376478864 0.00005
NM_000093.5(COL5A1):c.1971G>A (p.Pro657=) rs981088114 0.00005
NM_000093.5(COL5A1):c.2013C>T (p.Pro671=) rs372082908 0.00005
NM_000093.5(COL5A1):c.2482C>T (p.Arg828Trp) rs185912761 0.00005
NM_000093.5(COL5A1):c.2502C>T (p.Pro834=) rs144775947 0.00005
NM_000093.5(COL5A1):c.2722C>T (p.Pro908Ser) rs144985214 0.00005
NM_000093.5(COL5A1):c.28C>T (p.Arg10Cys) rs1457110544 0.00005
NM_000093.5(COL5A1):c.3087G>A (p.Pro1029=) rs774035950 0.00005
NM_000093.5(COL5A1):c.3369C>T (p.Gly1123=) rs546229885 0.00005
NM_000093.5(COL5A1):c.3398G>A (p.Arg1133Gln) rs759580799 0.00005
NM_000093.5(COL5A1):c.4068+11A>G rs371926479 0.00005
NM_000093.5(COL5A1):c.4239C>T (p.Ala1413=) rs537406193 0.00005
NM_000093.5(COL5A1):c.65C>A (p.Pro22Gln) rs863223467 0.00005
NM_000093.5(COL5A1):c.1163A>G (p.Asn388Ser) rs150837465 0.00004
NM_000093.5(COL5A1):c.1292G>A (p.Gly431Glu) rs370311038 0.00004
NM_000093.5(COL5A1):c.1307C>T (p.Ala436Val) rs144269434 0.00004
NM_000093.5(COL5A1):c.145C>T (p.His49Tyr) rs372168541 0.00004
NM_000093.5(COL5A1):c.1527C>T (p.Ala509=) rs746510456 0.00004
NM_000093.5(COL5A1):c.1528G>A (p.Asp510Asn) rs374204025 0.00004
NM_000093.5(COL5A1):c.1595C>T (p.Ala532Val) rs369000939 0.00004
NM_000093.5(COL5A1):c.219C>T (p.Val73=) rs774691915 0.00004
NM_000093.5(COL5A1):c.2253C>T (p.Gly751=) rs772257562 0.00004
NM_000093.5(COL5A1):c.2285C>T (p.Pro762Leu) rs138259992 0.00004
NM_000093.5(COL5A1):c.2354C>T (p.Pro785Leu) rs760539229 0.00004
NM_000093.5(COL5A1):c.2485-10T>C rs369553063 0.00004
NM_000093.5(COL5A1):c.2700+47G>C rs533232763 0.00004
NM_000093.5(COL5A1):c.278-50T>C rs372237723 0.00004
NM_000093.5(COL5A1):c.3247C>T (p.Pro1083Ser) rs370321707 0.00004
NM_000093.5(COL5A1):c.3987C>T (p.Pro1329=) rs770802769 0.00004
NM_000093.5(COL5A1):c.4375G>A (p.Gly1459Ser) rs183114696 0.00004
NM_000093.5(COL5A1):c.683C>T (p.Ser228Leu) rs770737485 0.00004
NM_000093.5(COL5A1):c.945G>A (p.Thr315=) rs149123775 0.00004
NM_000093.5(COL5A1):c.997G>A (p.Val333Ile) rs762624092 0.00004
NM_000093.5(COL5A1):c.1189G>A (p.Ala397Thr) rs762108965 0.00003
NM_000093.5(COL5A1):c.1263C>T (p.Tyr421=) rs373846823 0.00003
NM_000093.5(COL5A1):c.1270A>G (p.Thr424Ala) rs535363331 0.00003
NM_000093.5(COL5A1):c.1304C>T (p.Pro435Leu) rs772379819 0.00003
NM_000093.5(COL5A1):c.1587C>T (p.Gly529=) rs529255491 0.00003
NM_000093.5(COL5A1):c.1827+11C>T rs374795810 0.00003
NM_000093.5(COL5A1):c.2035-10C>T rs754111650 0.00003
NM_000093.5(COL5A1):c.2042G>A (p.Arg681His) rs371580094 0.00003
NM_000093.5(COL5A1):c.212C>T (p.Pro71Leu) rs779540528 0.00003
NM_000093.5(COL5A1):c.2182G>A (p.Ala728Thr) rs575535171 0.00003
NM_000093.5(COL5A1):c.2484+6C>T rs576976549 0.00003
NM_000093.5(COL5A1):c.2542C>T (p.Arg848Cys) rs762336160 0.00003
NM_000093.5(COL5A1):c.2899-13G>T rs761096695 0.00003
NM_000093.5(COL5A1):c.2946C>T (p.Gly982=) rs1060502253 0.00003
NM_000093.5(COL5A1):c.3086C>T (p.Pro1029Leu) rs768531108 0.00003
NM_000093.5(COL5A1):c.3257C>T (p.Ala1086Val) rs774849517 0.00003
NM_000093.5(COL5A1):c.3303C>T (p.Ile1101=) rs760754491 0.00003
NM_000093.5(COL5A1):c.3428C>T (p.Pro1143Leu) rs540131206 0.00003
NM_000093.5(COL5A1):c.3564C>A (p.Ile1188=) rs766961124 0.00003
NM_000093.5(COL5A1):c.3770G>A (p.Arg1257Gln) rs141768094 0.00003
NM_000093.5(COL5A1):c.3788C>T (p.Pro1263Leu) rs140244245 0.00003
NM_000093.5(COL5A1):c.3815C>A (p.Pro1272Gln) rs369684394 0.00003
NM_000093.5(COL5A1):c.3912C>T (p.Pro1304=) rs773909152 0.00003
NM_000093.5(COL5A1):c.4111C>G (p.Pro1371Ala) rs749162303 0.00003
NM_000093.5(COL5A1):c.4240G>A (p.Gly1414Ser) rs776709663 0.00003
NM_000093.5(COL5A1):c.4386C>T (p.Gly1462=) rs759256816 0.00003
NM_000093.5(COL5A1):c.513C>T (p.Ser171=) rs754997436 0.00003
NM_000093.5(COL5A1):c.615C>A (p.Ile205=) rs201286195 0.00003
NM_000093.5(COL5A1):c.660C>G (p.Asp220Glu) rs570691491 0.00003
NM_000093.5(COL5A1):c.735C>T (p.Asp245=) rs746769184 0.00003
NM_000093.5(COL5A1):c.739G>A (p.Ala247Thr) rs769115550 0.00003
NM_000093.5(COL5A1):c.774T>C (p.Asn258=) rs199742873 0.00003
NM_000093.5(COL5A1):c.1144G>A (p.Asp382Asn) rs148288567 0.00002
NM_000093.5(COL5A1):c.1147A>G (p.Thr383Ala) rs747758069 0.00002
NM_000093.5(COL5A1):c.1208A>T (p.Glu403Val) rs752746395 0.00002
NM_000093.5(COL5A1):c.1240G>A (p.Glu414Lys) rs763456705 0.00002
NM_000093.5(COL5A1):c.1284G>A (p.Ser428=) rs745575705 0.00002
NM_000093.5(COL5A1):c.1291G>A (p.Gly431Arg) rs962170388 0.00002
NM_000093.5(COL5A1):c.1293G>T (p.Gly431=) rs373460629 0.00002
NM_000093.5(COL5A1):c.1351G>A (p.Glu451Lys) rs755546104 0.00002
NM_000093.5(COL5A1):c.1388C>T (p.Pro463Leu) rs201375465 0.00002
NM_000093.5(COL5A1):c.1574G>A (p.Arg525Gln) rs375762619 0.00002
NM_000093.5(COL5A1):c.170A>G (p.Lys57Arg) rs1131691360 0.00002
NM_000093.5(COL5A1):c.1734C>T (p.Ser578=) rs148094039 0.00002
NM_000093.5(COL5A1):c.1818C>T (p.Pro606=) rs761257919 0.00002
NM_000093.5(COL5A1):c.217G>A (p.Val73Ile) rs148793863 0.00002
NM_000093.5(COL5A1):c.2293C>T (p.Pro765Ser) rs766839110 0.00002
NM_000093.5(COL5A1):c.2483G>A (p.Arg828Gln) rs781317910 0.00002
NM_000093.5(COL5A1):c.2526T>C (p.Pro842=) rs763634004 0.00002
NM_000093.5(COL5A1):c.2708C>T (p.Pro903Leu) rs780406577 0.00002
NM_000093.5(COL5A1):c.2750C>T (p.Pro917Leu) rs375600865 0.00002
NM_000093.5(COL5A1):c.2947G>A (p.Glu983Lys) rs146348246 0.00002
NM_000093.5(COL5A1):c.3040C>T (p.Arg1014Cys) rs780601499 0.00002
NM_000093.5(COL5A1):c.3732C>T (p.Asp1244=) rs377422775 0.00002
NM_000093.5(COL5A1):c.37C>T (p.Leu13Phe) rs762625123 0.00002
NM_000093.5(COL5A1):c.3856G>A (p.Glu1286Lys) rs149717587 0.00002
NM_000093.5(COL5A1):c.3898G>A (p.Gly1300Ser) rs769814019 0.00002
NM_000093.5(COL5A1):c.3960C>T (p.Ala1320=) rs1057524173 0.00002
NM_000093.5(COL5A1):c.4131C>T (p.Pro1377=) rs145101509 0.00002
NM_000093.5(COL5A1):c.4319G>A (p.Arg1440Gln) rs758650140 0.00002
NM_000093.5(COL5A1):c.4378C>A (p.Pro1460Thr) rs773125713 0.00002
NM_000093.5(COL5A1):c.526A>C (p.Asn176His) rs369396868 0.00002
NM_000093.5(COL5A1):c.52C>T (p.Pro18Ser) rs1060502260 0.00002
NM_000093.5(COL5A1):c.57G>A (p.Leu19=) rs761259908 0.00002
NM_000093.5(COL5A1):c.1005C>T (p.Ile335=) rs761397885 0.00001
NM_000093.5(COL5A1):c.1021G>A (p.Val341Met) rs756703956 0.00001
NM_000093.5(COL5A1):c.1053G>A (p.Pro351=) rs370018361 0.00001
NM_000093.5(COL5A1):c.1074C>T (p.Gly358=) rs561440698 0.00001
NM_000093.5(COL5A1):c.1089C>G (p.Asn363Lys) rs773870913 0.00001
NM_000093.5(COL5A1):c.1123G>A (p.Glu375Lys) rs777789161 0.00001
NM_000093.5(COL5A1):c.1141G>A (p.Ala381Thr) rs768269251 0.00001
NM_000093.5(COL5A1):c.1210T>C (p.Phe404Leu) rs1052185173 0.00001
NM_000093.5(COL5A1):c.1239C>T (p.Asp413=) rs775974461 0.00001
NM_000093.5(COL5A1):c.1280C>T (p.Pro427Leu) rs751337133 0.00001
NM_000093.5(COL5A1):c.1308G>A (p.Ala436=) rs200959477 0.00001
NM_000093.5(COL5A1):c.1340G>A (p.Gly447Glu) rs753549769 0.00001
NM_000093.5(COL5A1):c.1389G>A (p.Pro463=) rs1057518771 0.00001
NM_000093.5(COL5A1):c.1465A>G (p.Thr489Ala) rs863223468 0.00001
NM_000093.5(COL5A1):c.1484C>T (p.Pro495Leu) rs144909439 0.00001
NM_000093.5(COL5A1):c.1561A>G (p.Met521Val) rs535161301 0.00001
NM_000093.5(COL5A1):c.164T>C (p.Ile55Thr) rs899196123 0.00001
NM_000093.5(COL5A1):c.1701A>C (p.Thr567=) rs143647239 0.00001
NM_000093.5(COL5A1):c.1720-11T>A rs863223444 0.00001
NM_000093.5(COL5A1):c.1752G>A (p.Glu584=) rs376865199 0.00001
NM_000093.5(COL5A1):c.1805C>T (p.Pro602Leu) rs749007253 0.00001
NM_000093.5(COL5A1):c.1840A>C (p.Ser614Arg) rs863223477 0.00001
NM_000093.5(COL5A1):c.1990-12T>C rs776163211 0.00001
NM_000093.5(COL5A1):c.2002G>A (p.Glu668Lys) rs764603796 0.00001
NM_000093.5(COL5A1):c.2032C>T (p.Pro678Ser) rs756190610 0.00001
NM_000093.5(COL5A1):c.2066C>T (p.Pro689Leu) rs1389473144 0.00001
NM_000093.5(COL5A1):c.2174A>G (p.Asn725Ser) rs142612655 0.00001
NM_000093.5(COL5A1):c.2181C>T (p.Gly727=) rs201298716 0.00001
NM_000093.5(COL5A1):c.2188-8C>T rs369789387 0.00001
NM_000093.5(COL5A1):c.2238C>T (p.Pro746=) rs373617798 0.00001
NM_000093.5(COL5A1):c.2269G>A (p.Gly757Ser) rs1464394247 0.00001
NM_000093.5(COL5A1):c.2331+11G>A rs753145256 0.00001
NM_000093.5(COL5A1):c.2382C>T (p.Val794=) rs758190171 0.00001
NM_000093.5(COL5A1):c.2385+15C>T rs937874882 0.00001
NM_000093.5(COL5A1):c.2390C>T (p.Ala797Val) rs745370910 0.00001
NM_000093.5(COL5A1):c.2430+4A>C rs772211603 0.00001
NM_000093.5(COL5A1):c.243G>A (p.Ala81=) rs540291731 0.00001
NM_000093.5(COL5A1):c.2501C>T (p.Pro834Leu) rs558752105 0.00001
NM_000093.5(COL5A1):c.2527G>C (p.Glu843Gln) rs1837405294 0.00001
NM_000093.5(COL5A1):c.2543G>A (p.Arg848His) rs767925708 0.00001
NM_000093.5(COL5A1):c.2593-3C>T rs199895142 0.00001
NM_000093.5(COL5A1):c.2649C>T (p.Gly883=) rs770622608 0.00001
NM_000093.5(COL5A1):c.2661C>A (p.Phe887Leu) rs1424208076 0.00001
NM_000093.5(COL5A1):c.2696G>T (p.Gly899Val) rs759338898 0.00001
NM_000093.5(COL5A1):c.2709T>C (p.Pro903=) rs749844592 0.00001
NM_000093.5(COL5A1):c.2818G>A (p.Gly940Ser) rs1131691874 0.00001
NM_000093.5(COL5A1):c.2843G>A (p.Arg948Gln) rs574551567 0.00001
NM_000093.5(COL5A1):c.2845-11T>C rs769433136 0.00001
NM_000093.5(COL5A1):c.2845-8G>A rs775063630 0.00001
NM_000093.5(COL5A1):c.2898+20C>T rs781174331 0.00001
NM_000093.5(COL5A1):c.289C>T (p.Pro97Ser) rs1189111524 0.00001
NM_000093.5(COL5A1):c.298T>G (p.Phe100Val) rs761639579 0.00001
NM_000093.5(COL5A1):c.2992G>A (p.Val998Met) rs776676564 0.00001
NM_000093.5(COL5A1):c.3055C>T (p.Pro1019Ser) rs193920927 0.00001
NM_000093.5(COL5A1):c.3059C>T (p.Pro1020Leu) rs1001786208 0.00001
NM_000093.5(COL5A1):c.3064C>T (p.Pro1022Ser) rs536758248 0.00001
NM_000093.5(COL5A1):c.3235C>T (p.Pro1079Ser) rs763310793 0.00001
NM_000093.5(COL5A1):c.324C>T (p.Ala108=) rs765929345 0.00001
NM_000093.5(COL5A1):c.3326C>A (p.Pro1109His) rs1482501113 0.00001
NM_000093.5(COL5A1):c.3330G>A (p.Gln1110=) rs1461218386 0.00001
NM_000093.5(COL5A1):c.3341G>C (p.Gly1114Ala) rs926426117 0.00001
NM_000093.5(COL5A1):c.3344C>T (p.Pro1115Leu) rs139039658 0.00001
NM_000093.5(COL5A1):c.3361G>C (p.Ala1121Pro) rs863223449 0.00001
NM_000093.5(COL5A1):c.3545C>T (p.Thr1182Ile) rs1057524867 0.00001
NM_000093.5(COL5A1):c.3551C>T (p.Pro1184Leu) rs749093832 0.00001
NM_000093.5(COL5A1):c.3595G>A (p.Glu1199Lys) rs867211079 0.00001
NM_000093.5(COL5A1):c.3622C>T (p.Leu1208Phe) rs863223450 0.00001
NM_000093.5(COL5A1):c.363C>T (p.Asn121=) rs369180922 0.00001
NM_000093.5(COL5A1):c.3642T>C (p.Asp1214=) rs1351482667 0.00001
NM_000093.5(COL5A1):c.370G>A (p.Gly124Ser) rs1356081271 0.00001
NM_000093.5(COL5A1):c.3725C>T (p.Thr1242Ile) rs769091549 0.00001
NM_000093.5(COL5A1):c.3812C>T (p.Pro1271Leu) rs771146636 0.00001
NM_000093.5(COL5A1):c.3868G>A (p.Ala1290Thr) rs863223451 0.00001
NM_000093.5(COL5A1):c.3947C>G (p.Pro1316Arg) rs371550819 0.00001
NM_000093.5(COL5A1):c.4011C>T (p.Ser1337=) rs1363178603 0.00001
NM_000093.5(COL5A1):c.406C>T (p.Pro136Ser) rs777625241 0.00001
NM_000093.5(COL5A1):c.4198C>T (p.Pro1400Ser) rs765217611 0.00001
NM_000093.5(COL5A1):c.4210C>A (p.Gln1404Lys) rs1441922749 0.00001
NM_000093.5(COL5A1):c.4234G>A (p.Glu1412Lys) rs376893441 0.00001
NM_000093.5(COL5A1):c.4267G>A (p.Gly1423Ser) rs370151534 0.00001
NM_000093.5(COL5A1):c.427C>A (p.His143Asn) rs863223465 0.00001
NM_000093.5(COL5A1):c.4289C>G (p.Ala1430Gly) rs765920886 0.00001
NM_000093.5(COL5A1):c.4302C>T (p.Pro1434=) rs755495352 0.00001
NM_000093.5(COL5A1):c.4333C>T (p.Pro1445Ser) rs757989702 0.00001
NM_000093.5(COL5A1):c.4370C>T (p.Pro1457Leu) rs201875250 0.00001
NM_000093.5(COL5A1):c.4411G>A (p.Gly1471Ser) rs750864661 0.00001
NM_000093.5(COL5A1):c.458C>A (p.Pro153His) rs771925785 0.00001
NM_000093.5(COL5A1):c.474C>T (p.Ile158=) rs372769772 0.00001
NM_000093.5(COL5A1):c.492-16A>G rs775028310 0.00001
NM_000093.5(COL5A1):c.508C>G (p.Leu170Val) rs188120737 0.00001
NM_000093.5(COL5A1):c.577C>T (p.Arg193Cys) rs765170704 0.00001
NM_000093.5(COL5A1):c.629G>A (p.Arg210Gln) rs1382944823 0.00001
NM_000093.5(COL5A1):c.691C>T (p.Arg231Trp) rs775853003 0.00001
NM_000093.5(COL5A1):c.713A>G (p.Glu238Gly) rs1433120962 0.00001
NM_000093.5(COL5A1):c.727G>A (p.Asp243Asn) rs758431206 0.00001
NM_000093.5(COL5A1):c.756A>C (p.Pro252=) rs1030582099 0.00001
NM_000093.5(COL5A1):c.790A>C (p.Thr264Pro) rs863223440 0.00001
NM_000093.5(COL5A1):c.801C>T (p.Asp267=) rs778401280 0.00001
NM_000093.5(COL5A1):c.825C>T (p.Tyr275=) rs771253587 0.00001
NM_000093.5(COL5A1):c.82C>A (p.Leu28Met) rs1312200383 0.00001
NM_000093.5(COL5A1):c.846C>T (p.Asp282=) rs775736911 0.00001
NM_000093.5(COL5A1):c.849C>T (p.Pro283=) rs761805821 0.00001
NM_000093.5(COL5A1):c.888C>T (p.Pro296=) rs747624704 0.00001
NM_000093.5(COL5A1):c.962C>T (p.Pro321Leu) rs1085307805 0.00001
NM_000093.5(COL5A1):c.964G>A (p.Glu322Lys) rs199857770 0.00001
NM_000093.5(COL5A1):c.977G>A (p.Gly326Glu) rs748152732 0.00001
NM_000093.5(COL5A1):c.987G>A (p.Lys329=) rs769516996 0.00001
GRCh37/hg19 9q34.3(chr9:137434514-137638766)x3
GRCh37/hg19 9q34.3(chr9:137648314-137664433)x1
GRCh37/hg19 9q34.3(chr9:137721555-137730384)x1
NM_000093.5(COL5A1):c.1006G>A (p.Gly336Arg)
NM_000093.5(COL5A1):c.1011C>G (p.Asp337Glu) rs1834832160
NM_000093.5(COL5A1):c.1021G>T (p.Val341Leu)
NM_000093.5(COL5A1):c.1048T>C (p.Ser350Pro) rs1588479393
NM_000093.5(COL5A1):c.1052C>A (p.Pro351Gln) rs887190843
NM_000093.5(COL5A1):c.1070A>T (p.Tyr357Phe)
NM_000093.5(COL5A1):c.1081G>A (p.Glu361Lys) rs1834836876
NM_000093.5(COL5A1):c.109+8179C>T
NM_000093.5(COL5A1):c.1094A>T (p.Asp365Val)
NM_000093.5(COL5A1):c.1183G>T (p.Glu395Ter) rs1554788339
NM_000093.5(COL5A1):c.1191G>T (p.Ala397=) rs199755089
NM_000093.5(COL5A1):c.1207G>T (p.Glu403Ter) rs886043641
NM_000093.5(COL5A1):c.1222A>G (p.Thr408Ala) rs1588480833
NM_000093.5(COL5A1):c.1223C>T (p.Thr408Met) rs758197769
NM_000093.5(COL5A1):c.1224G>A (p.Thr408=) rs139406076
NM_000093.5(COL5A1):c.1224G>C (p.Thr408=) rs139406076
NM_000093.5(COL5A1):c.1246TACTACGACCCC[1] (p.416YYDP[1]) rs745934765
NM_000093.5(COL5A1):c.1246TACTACGACCCC[3] (p.416YYDP[3]) rs745934765
NM_000093.5(COL5A1):c.1264G>A (p.Asp422Asn)
NM_000093.5(COL5A1):c.1290C>T (p.Ile430=) rs572136244
NM_000093.5(COL5A1):c.1296G>A (p.Pro432=)
NM_000093.5(COL5A1):c.129G>A (p.Leu43=) rs1588441009
NM_000093.5(COL5A1):c.12T>G (p.His4Gln) rs368818087
NM_000093.5(COL5A1):c.1332+1G>T rs1064796684
NM_000093.5(COL5A1):c.1333-3C>G rs1238061655
NM_000093.5(COL5A1):c.1361A>G (p.Gln454Arg)
NM_000093.5(COL5A1):c.1364del (p.Lys455fs) rs1564418237
NM_000093.5(COL5A1):c.1370A>G (p.Glu457Gly) rs2132643376
NM_000093.5(COL5A1):c.1387C>T (p.Pro463Ser) rs368168386
NM_000093.5(COL5A1):c.1389+2T>C
NM_000093.5(COL5A1):c.1390-18CT[3] rs863223441
NM_000093.5(COL5A1):c.1402G>A (p.Glu468Lys) rs754948598
NM_000093.5(COL5A1):c.1410G>A (p.Pro470=) rs148389741
NM_000093.5(COL5A1):c.1410G>C (p.Pro470=) rs148389741
NM_000093.5(COL5A1):c.1428C>G (p.Pro476=) rs745633063
NM_000093.5(COL5A1):c.1429G>A (p.Ala477Thr) rs774936702
NM_000093.5(COL5A1):c.1431+6T>G rs2132655326
NM_000093.5(COL5A1):c.1445C>T (p.Pro482Leu) rs565329216
NM_000093.5(COL5A1):c.1494+129del rs112726102
NM_000093.5(COL5A1):c.149A>G (p.Asn50Ser) rs79138021
NM_000093.5(COL5A1):c.1502del (p.Pro501fs) rs1085307855
NM_000093.5(COL5A1):c.1503del (p.Gly502fs) rs1554792011
NM_000093.5(COL5A1):c.1535T>C (p.Leu512Pro) rs863223442
NM_000093.5(COL5A1):c.1540G>A (p.Gly514Ser) rs878853652
NM_000093.5(COL5A1):c.157G>C (p.Asp53His) rs763026096
NM_000093.5(COL5A1):c.1628A>G (p.Glu543Gly) rs2132683265
NM_000093.5(COL5A1):c.1662+134T>C rs60008082
NM_000093.5(COL5A1):c.1663-158del rs11386016
NM_000093.5(COL5A1):c.1663-159_1663-158del rs11386016
NM_000093.5(COL5A1):c.1663-160G>T rs56669635
NM_000093.5(COL5A1):c.1663-160_1663-158del rs11386016
NM_000093.5(COL5A1):c.1663-166G>T rs112206433
NM_000093.5(COL5A1):c.1663-1G>C rs794727114
NM_000093.5(COL5A1):c.1663-273_1663-224dup rs532542070
NM_000093.5(COL5A1):c.1671G>A (p.Leu557=)
NM_000093.5(COL5A1):c.1687C>G (p.Pro563Ala)
NM_000093.5(COL5A1):c.1688C>T (p.Pro563Leu) rs753260027
NM_000093.5(COL5A1):c.1720-158C>G rs73664129
NM_000093.5(COL5A1):c.1724C>A (p.Pro575His)
NM_000093.5(COL5A1):c.1726C>A (p.Pro576Thr)
NM_000093.5(COL5A1):c.1780C>T (p.Arg594Ter) rs1554792869
NM_000093.5(COL5A1):c.1787T>C (p.Val596Ala) rs754773665
NM_000093.5(COL5A1):c.1827+12G>A rs1251697175
NM_000093.5(COL5A1):c.1827+134C>T rs528098067
NM_000093.5(COL5A1):c.1828-147G>A rs150730683
NM_000093.5(COL5A1):c.1828-263G>A rs114326916
NM_000093.5(COL5A1):c.1850C>A (p.Ala617Asp)
NM_000093.5(COL5A1):c.1881+287G>A rs116268806
NM_000093.5(COL5A1):c.1881+292G>A rs7025035
NM_000093.5(COL5A1):c.1920C>T (p.Gly640=) rs781663334
NM_000093.5(COL5A1):c.1936-16C>G rs199694949
NM_000093.5(COL5A1):c.1936-21G>C rs77716946
NM_000093.5(COL5A1):c.1937G>A (p.Gly646Asp)
NM_000093.5(COL5A1):c.1949C>G (p.Pro650Arg) rs150890005
NM_000093.5(COL5A1):c.1977C>T (p.Asp659=) rs370766020
NM_000093.5(COL5A1):c.1989+14C>T
NM_000093.5(COL5A1):c.1989+1G>A rs1836462685
NM_000093.5(COL5A1):c.2019del (p.Leu674fs)
NM_000093.5(COL5A1):c.2034+1G>A rs886042173
NM_000093.5(COL5A1):c.2044G>A (p.Gly682Ser) rs1588524307
NM_000093.5(COL5A1):c.2088+18C>G rs889625058
NM_000093.5(COL5A1):c.2089-62C>T
NM_000093.5(COL5A1):c.212C>G (p.Pro71Arg)
NM_000093.5(COL5A1):c.2140C>T (p.Gln714Ter) rs1554796176
NM_000093.5(COL5A1):c.2149C>T (p.Pro717Ser)
NM_000093.5(COL5A1):c.2159dup (p.Gly721fs) rs863223469
NM_000093.5(COL5A1):c.2162dup (p.Gln722fs) rs863223470
NM_000093.5(COL5A1):c.2182G>C (p.Ala728Pro)
NM_000093.5(COL5A1):c.2191C>G (p.Leu731Val)
NM_000093.5(COL5A1):c.2196A>G (p.Pro732=) rs1588526318
NM_000093.5(COL5A1):c.2233-142G>C rs41302968
NM_000093.5(COL5A1):c.2233-99G>A rs77818497
NM_000093.5(COL5A1):c.2237C>G (p.Pro746Arg) rs1588527590
NM_000093.5(COL5A1):c.2262A>G (p.Gly754=) rs1836755970
NM_000093.5(COL5A1):c.2286+178A>C rs146398092
NM_000093.5(COL5A1):c.2331+109G>A rs10125874
NM_000093.5(COL5A1):c.2331+247_2331+265dup rs6151208
NM_000093.5(COL5A1):c.2332-20C>T rs1588534559
NM_000093.5(COL5A1):c.2332-9T>G rs1554797620
NM_000093.5(COL5A1):c.2347_2348insT (p.Gln783fs) rs863223471
NM_000093.5(COL5A1):c.2385G>A (p.Lys795=) rs1554797638
NM_000093.5(COL5A1):c.2386-174C>T rs77928388
NM_000093.5(COL5A1):c.2386-210_2386-209del rs35886496
NM_000093.5(COL5A1):c.2392G>A (p.Asp798Asn) rs979271877
NM_000093.5(COL5A1):c.2401C>T (p.Arg801Cys)
NM_000093.5(COL5A1):c.242C>T (p.Ala81Val)
NM_000093.5(COL5A1):c.2430+16C>T rs530385215
NM_000093.5(COL5A1):c.2430+1G>A rs1060502248
NM_000093.5(COL5A1):c.2434G>A (p.Glu812Lys) rs1554798924
NM_000093.5(COL5A1):c.2440_2447dup (p.Gly817fs)
NM_000093.5(COL5A1):c.2463C>T (p.Asp821=) rs1588542906
NM_000093.5(COL5A1):c.2484+14G>A rs371753763
NM_000093.5(COL5A1):c.2485-191C>A rs7855838
NM_000093.5(COL5A1):c.2485-191C>T rs7855838
NM_000093.5(COL5A1):c.2485-34_2485-33insGGCA rs376936600
NM_000093.5(COL5A1):c.2485-34_2485-33insGGGGCA rs376936600
NM_000093.5(COL5A1):c.2485-39_2485-38insT rs779225921
NM_000093.5(COL5A1):c.2485-39_2485-38insTGT rs779225921
NM_000093.5(COL5A1):c.2497C>T (p.Pro833Ser) rs370547479
NM_000093.5(COL5A1):c.2524C>A (p.Pro842Thr) rs1588545921
NM_000093.5(COL5A1):c.2555A>G (p.Asn852Ser) rs148146480
NM_000093.5(COL5A1):c.2555A>T (p.Asn852Ile) rs148146480
NM_000093.5(COL5A1):c.2578C>T (p.Pro860Ser)
NM_000093.5(COL5A1):c.2592+16C>G rs145429817
NM_000093.5(COL5A1):c.2592+75G>A rs71506921
NM_000093.5(COL5A1):c.2593-273C>A rs141782203
NM_000093.5(COL5A1):c.2676C>A (p.Gly892=) rs143161140
NM_000093.5(COL5A1):c.26C>A (p.Ala9Glu) rs900216804
NM_000093.5(COL5A1):c.2701-349_2701-346del rs138377947
NM_000093.5(COL5A1):c.2734C>T (p.Arg912Ter) rs863223478
NM_000093.5(COL5A1):c.273C>A (p.Tyr91Ter) rs1341789008
NM_000093.5(COL5A1):c.2740C>T (p.Pro914Ser) rs2132802525
NM_000093.5(COL5A1):c.2741C>T (p.Pro914Leu)
NM_000093.5(COL5A1):c.2746-12C>G rs1554801436
NM_000093.5(COL5A1):c.2765G>T (p.Gly922Val) rs1564463870
NM_000093.5(COL5A1):c.277+82G>A rs116650621
NM_000093.5(COL5A1):c.2771G>C (p.Arg924Pro) rs768711320
NM_000093.5(COL5A1):c.2784del (p.Lys929fs) rs863223472
NM_000093.5(COL5A1):c.2799+112dup rs79903250
NM_000093.5(COL5A1):c.2800-18C>A rs73664144
NM_000093.5(COL5A1):c.2800-18dup rs749260939
NM_000093.5(COL5A1):c.2807C>G (p.Ser936Cys)
NM_000093.5(COL5A1):c.2809G>A (p.Gly937Arg) rs1330022009
NM_000093.5(COL5A1):c.2826T>C (p.Ala942=) rs1837911181
NM_000093.5(COL5A1):c.2844G>A (p.Arg948=) rs1421835224
NM_000093.5(COL5A1):c.2845-90G>A rs140168393
NM_000093.5(COL5A1):c.2866C>A (p.Pro956Thr) rs2132807920
NM_000093.5(COL5A1):c.2882G>A (p.Gly961Glu) rs2132807966
NM_000093.5(COL5A1):c.2894C>T (p.Pro965Leu) rs376435205
NM_000093.5(COL5A1):c.2897del (p.Pro966fs) rs1179967153
NM_000093.5(COL5A1):c.2898+287TC[3] rs10636721
NM_000093.5(COL5A1):c.2898+53_2898+72del rs142676375
NM_000093.5(COL5A1):c.2899-72G>A rs73561905
NM_000093.5(COL5A1):c.2905C>T (p.Pro969Ser) rs759627305
NM_000093.5(COL5A1):c.2923C>G (p.Pro975Ala) rs2132811634
NM_000093.5(COL5A1):c.292G>T (p.Glu98Ter) rs369126350
NM_000093.5(COL5A1):c.2952+2_2952+3del rs1588562135
NM_000093.5(COL5A1):c.2953-153del rs35171316
NM_000093.5(COL5A1):c.2953-153dup rs35171316
NM_000093.5(COL5A1):c.2953-235AG[3] rs56665904
NM_000093.5(COL5A1):c.2983C>G (p.Pro995Ala) rs187022757
NM_000093.5(COL5A1):c.2983C>T (p.Pro995Ser) rs187022757
NM_000093.5(COL5A1):c.2986C>G (p.Pro996Ala) rs774351619
NM_000093.5(COL5A1):c.2988dup (p.Gly997fs) rs764693725
NM_000093.5(COL5A1):c.2989G>A (p.Gly997Ser) rs863223445
NM_000093.5(COL5A1):c.3013A>G (p.Thr1005Ala) rs863223446
NM_000093.5(COL5A1):c.3037G>A (p.Glu1013Lys) rs1060502249
NM_000093.5(COL5A1):c.305T>C (p.Ile102Thr) rs1554781477
NM_000093.5(COL5A1):c.3060del (p.Gly1021fs) rs1838166153
NM_000093.5(COL5A1):c.3069dup (p.Gly1024fs) rs863223473
NM_000093.5(COL5A1):c.309AAC[1] (p.Thr105del) rs863223476
NM_000093.5(COL5A1):c.3121C>G (p.Pro1041Ala) rs751792216
NM_000093.5(COL5A1):c.3167G>T (p.Arg1056Leu)
NM_000093.5(COL5A1):c.3184C>T (p.Arg1062Ter) rs387906606
NM_000093.5(COL5A1):c.3197G>C (p.Gly1066Ala) rs2132827340
NM_000093.5(COL5A1):c.3236C>T (p.Pro1079Leu) rs863223447
NM_000093.5(COL5A1):c.3254C>T (p.Pro1085Leu) rs1588570027
NM_000093.5(COL5A1):c.3260G>C (p.Gly1087Ala) rs559882772
NM_000093.5(COL5A1):c.3271G>T (p.Glu1091Ter) rs2132830490
NM_000093.5(COL5A1):c.3311C>G (p.Pro1104Arg) rs1377049332
NM_000093.5(COL5A1):c.3350G>C (p.Gly1117Ala) rs863223448
NM_000093.5(COL5A1):c.3389C>T (p.Pro1130Leu) rs1838417405
NM_000093.5(COL5A1):c.3397C>T (p.Arg1133Ter) rs886042045
NM_000093.5(COL5A1):c.3403G>A (p.Gly1135Ser) rs775559638
NM_000093.5(COL5A1):c.3413G>A (p.Gly1138Glu)
NM_000093.5(COL5A1):c.3415C>T (p.Pro1139Ser) rs1838418529
NM_000093.5(COL5A1):c.3452C>G (p.Pro1151Arg)
NM_000093.5(COL5A1):c.3474+48G>A rs79433650
NM_000093.5(COL5A1):c.3475-139A>C rs112889019
NM_000093.5(COL5A1):c.3475-208G>T rs13293484
NM_000093.5(COL5A1):c.3476G>A (p.Gly1159Glu) rs1838466921
NM_000093.5(COL5A1):c.34G>A (p.Ala12Thr) rs1160540030
NM_000093.5(COL5A1):c.3526C>T (p.Gln1176Ter)
NM_000093.5(COL5A1):c.3528+46G>C rs3827850
NM_000093.5(COL5A1):c.3562A>G (p.Ile1188Val) rs1588577285
NM_000093.5(COL5A1):c.3564C>T (p.Ile1188=) rs766961124
NM_000093.5(COL5A1):c.3575G>A (p.Gly1192Asp) rs2132844472
NM_000093.5(COL5A1):c.3582+4A>C rs1064796967
NM_000093.5(COL5A1):c.3612C>T (p.Gly1204=) rs778501874
NM_000093.5(COL5A1):c.3627C>A (p.Phe1209Leu) rs748000980
NM_000093.5(COL5A1):c.3648T>C (p.Gly1216=) rs1588577626
NM_000093.5(COL5A1):c.3698C>T (p.Pro1233Leu) rs886039091
NM_000093.5(COL5A1):c.3720T>C (p.Gly1240=) rs1554805072
NM_000093.5(COL5A1):c.3726_3732del (p.Gly1243fs) rs1554805076
NM_000093.5(COL5A1):c.3741G>T (p.Gln1247His)
NM_000093.5(COL5A1):c.3746G>C (p.Gly1249Ala) rs533597740
NM_000093.5(COL5A1):c.3752dup (p.Pro1253fs) rs786205100
NM_000093.5(COL5A1):c.3764G>A (p.Gly1255Asp) rs1064796975
NM_000093.5(COL5A1):c.3775C>G (p.Pro1259Ala) rs1352207961
NM_000093.5(COL5A1):c.3781G>A (p.Gly1261Arg) rs772445337
NM_000093.5(COL5A1):c.3804dup (p.Gln1269fs) rs1588578971
NM_000093.5(COL5A1):c.3805C>T (p.Gln1269Ter) rs1554805142
NM_000093.5(COL5A1):c.380A>G (p.Gln127Arg)
NM_000093.5(COL5A1):c.3815C>T (p.Pro1272Leu) rs369684394
NM_000093.5(COL5A1):c.383T>C (p.Ile128Thr) rs863223464
NM_000093.5(COL5A1):c.3844G>A (p.Gly1282Arg) rs1838574740
NM_000093.5(COL5A1):c.3852+205del rs10708719
NM_000093.5(COL5A1):c.3852+47_3852+48del rs761727852
NM_000093.5(COL5A1):c.3852+48GT[10] rs375849402
NM_000093.5(COL5A1):c.3852+48GT[8] rs375849402
NM_000093.5(COL5A1):c.3852+62_3852+63del rs112541886
NM_000093.5(COL5A1):c.3852+62_3852+65del rs538329277
NM_000093.5(COL5A1):c.3852+62_3852+69del rs879323430
NM_000093.5(COL5A1):c.3865G>A (p.Glu1289Lys)
NM_000093.5(COL5A1):c.3873T>A (p.Gly1291=) rs1005323480
NM_000093.5(COL5A1):c.3905C>G (p.Pro1302Arg) rs201920777
NM_000093.5(COL5A1):c.3905C>T (p.Pro1302Leu) rs201920777
NM_000093.5(COL5A1):c.3905del (p.Pro1302fs) rs1564477140
NM_000093.5(COL5A1):c.3906+3G>T rs786200922
NM_000093.5(COL5A1):c.3936C>A (p.Gly1312=) rs367804791
NM_000093.5(COL5A1):c.3938A>G (p.Glu1313Gly) rs2132853684
NM_000093.5(COL5A1):c.3945C>T (p.Gly1315=)
NM_000093.5(COL5A1):c.3952G>A (p.Gly1318Ser) rs1838678972
NM_000093.5(COL5A1):c.3968C>T (p.Pro1323Leu) rs2132853817
NM_000093.5(COL5A1):c.4000C>A (p.Pro1334Thr)
NM_000093.5(COL5A1):c.401G>A (p.Arg134His) rs1442400098
NM_000093.5(COL5A1):c.4020A>G (p.Pro1340=) rs776564144
NM_000093.5(COL5A1):c.4048C>G (p.Pro1350Ala) rs762699995
NM_000093.5(COL5A1):c.4050C>A (p.Pro1350=) rs773853291
NM_000093.5(COL5A1):c.405T>C (p.Ser135=) rs2132569922
NM_000093.5(COL5A1):c.4065del (p.Ala1356fs)
NM_000093.5(COL5A1):c.4068+87_4068+90del rs141938982
NM_000093.5(COL5A1):c.4068G>A (p.Ala1356=) rs863223452
NM_000093.5(COL5A1):c.4084C>T (p.Pro1362Ser) rs2132856128
NM_000093.5(COL5A1):c.4085C>T (p.Pro1362Leu) rs1170899907
NM_000093.5(COL5A1):c.409G>T (p.Val137Phe) rs145757313
NM_000093.5(COL5A1):c.4123-69A>G rs3811149
NM_000093.5(COL5A1):c.4126dup (p.Ser1376fs) rs1131691820
NM_000093.5(COL5A1):c.4151G>T (p.Gly1384Val)
NM_000093.5(COL5A1):c.4158G>A (p.Ser1386=) rs1383677988
NM_000093.5(COL5A1):c.4167A>G (p.Pro1389=) rs2132858820
NM_000093.5(COL5A1):c.4175G>A (p.Arg1392Lys) rs863223479
NM_000093.5(COL5A1):c.4176+162C>A rs79839026
NM_000093.5(COL5A1):c.4176+257C>G rs11103537
NM_000093.5(COL5A1):c.4176+3A>T rs1554806134
NM_000093.5(COL5A1):c.4184CAGGCCCCG[3] (p.Ala1398_Pro1400dup) rs2132861348
NM_000093.5(COL5A1):c.4184del (p.Pro1395fs) rs794727760
NM_000093.5(COL5A1):c.4230+77G>A rs146381563
NM_000093.5(COL5A1):c.4230G>C (p.Lys1410Asn) rs863223453
NM_000093.5(COL5A1):c.4231-309C>T rs150983463
NM_000093.5(COL5A1):c.4235A>T (p.Glu1412Val) rs1838863376
NM_000093.5(COL5A1):c.4282C>T (p.Gln1428Ter) rs863223454
NM_000093.5(COL5A1):c.4283del (p.Gln1428fs) rs863223474
NM_000093.5(COL5A1):c.4288G>A (p.Ala1430Thr) rs863223455
NM_000093.5(COL5A1):c.4318C>T (p.Arg1440Ter) rs2132864295
NM_000093.5(COL5A1):c.431C>T (p.Thr144Met) rs561761305
NM_000093.5(COL5A1):c.431_432delinsAT (p.Thr144Asn) rs864622040
NM_000093.5(COL5A1):c.4366G>A (p.Gly1456Ser) rs1564481153
NM_000093.5(COL5A1):c.4367G>T (p.Gly1456Val) rs1564481157
NM_000093.5(COL5A1):c.4372G>A (p.Asp1458Asn) rs577270517
NM_000093.5(COL5A1):c.4374C>A (p.Asp1458Glu) rs201335857
NM_000093.5(COL5A1):c.4392+4A>C rs863223456
NM_000093.5(COL5A1):c.4392+5G>A rs886043312
NM_000093.5(COL5A1):c.4402G>A (p.Gly1468Arg) rs1554806670
NM_000093.5(COL5A1):c.458C>T (p.Pro153Leu) rs771925785
NM_000093.5(COL5A1):c.487_488delinsTT (p.Gly163Phe) rs2132570241
NM_000093.5(COL5A1):c.491+5G>C rs2132570262
NM_000093.5(COL5A1):c.497A>G (p.His166Arg) rs1057524357
NM_000093.5(COL5A1):c.514G>A (p.Val172Ile) rs150147262
NM_000093.5(COL5A1):c.514G>T (p.Val172Phe) rs150147262
NM_000093.5(COL5A1):c.523A>C (p.Lys175Gln)
NM_000093.5(COL5A1):c.550A>G (p.Lys184Glu) rs2132572947
NM_000093.5(COL5A1):c.558G>A (p.Lys186=) rs1564397188
NM_000093.5(COL5A1):c.580A>G (p.Ser194Gly) rs2132573049
NM_000093.5(COL5A1):c.592A>G (p.Met198Val) rs1833664488
NM_000093.5(COL5A1):c.594G>A (p.Met198Ile)
NM_000093.5(COL5A1):c.597C>T (p.Ile199=) rs147008954
NM_000093.5(COL5A1):c.616G>T (p.Val206Leu) rs777065347
NM_000093.5(COL5A1):c.620T>G (p.Phe207Cys) rs2132573278
NM_000093.5(COL5A1):c.62C>T (p.Pro21Leu) rs2132454969
NM_000093.5(COL5A1):c.64C>G (p.Pro22Ala)
NM_000093.5(COL5A1):c.654+165T>G rs11103472
NM_000093.5(COL5A1):c.655-186_655-185insACGGATGGATGG rs139171326
NM_000093.5(COL5A1):c.655-1G>C rs1554787526
NM_000093.5(COL5A1):c.655-219GGAT[7] rs71381829
NM_000093.5(COL5A1):c.655-219GGAT[9] rs71381829
NM_000093.5(COL5A1):c.658G>A (p.Asp220Asn)
NM_000093.5(COL5A1):c.668A>C (p.Gln223Pro)
NM_000093.5(COL5A1):c.669G>A (p.Gln223=) rs1300899218
NM_000093.5(COL5A1):c.67CTG[5] (p.Leu28del) rs773994971
NM_000093.5(COL5A1):c.67CTG[7] (p.Leu28dup) rs773994971
NM_000093.5(COL5A1):c.67CTG[8] (p.Leu27_Leu28dup) rs773994971
NM_000093.5(COL5A1):c.67CTG[9] (p.Leu26_Leu28dup) rs773994971
NM_000093.5(COL5A1):c.695C>A (p.Ala232Glu)
NM_000093.5(COL5A1):c.6C>G (p.Asp2Glu) rs1064796482
NM_000093.5(COL5A1):c.709T>C (p.Cys237Arg) rs2132632719
NM_000093.5(COL5A1):c.71_74delinsCCCC (p.Leu24_Leu25delinsProPro)
NM_000093.5(COL5A1):c.732_733del (p.Cys244_Asp245delinsTer) rs1554787557
NM_000093.5(COL5A1):c.762G>A (p.Ser254=) rs767928508
NM_000093.5(COL5A1):c.766G>A (p.Asp256Asn) rs886038237
NM_000093.5(COL5A1):c.779A>T (p.Asp260Val)
NM_000093.5(COL5A1):c.787-8G>A rs780803048
NM_000093.5(COL5A1):c.787-9C>T rs751472921
NM_000093.5(COL5A1):c.7G>T (p.Val3Phe) rs1383699147
NM_000093.5(COL5A1):c.802G>A (p.Gly268Ser) rs748603743
NM_000093.5(COL5A1):c.859G>A (p.Gly287Arg)
NM_000093.5(COL5A1):c.904G>T (p.Glu302Ter) rs1554787811
NM_000093.5(COL5A1):c.924+18G>C
NM_000093.5(COL5A1):c.924+194A>C rs3128597
NM_000093.5(COL5A1):c.935C>G (p.Pro312Arg) rs367726185
NM_000093.5(COL5A1):c.94C>T (p.Pro32Ser) rs886042620
NM_000093.5(COL5A1):c.95C>A (p.Pro32His)
NM_000093.5(COL5A1):c.983G>A (p.Gly328Glu) rs576742644
NM_000093.5(COL5A1):c.993G>A (p.Glu331=) rs1834830929
Single allele

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.