ClinVar Miner

List of variants in gene COL5A1 reported as benign

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 627
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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.1569+16A>G rs12685946 0.29746
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.1569+15C>T rs62574081 0.07860
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.1390-259G>A rs78731511 0.04043
NM_000093.5(COL5A1):c.1882-56G>A rs77607202 0.04010
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.3007-36C>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.4230+6G>A rs77176843 0.02700
NM_000093.5(COL5A1):c.277+57A>G rs141489397 0.02688
NM_000093.5(COL5A1):c.4393-9C>T rs11792181 0.02555
NM_000093.5(COL5A1):c.2724G>A (p.Pro908=) rs41310207 0.02534
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.574G>A (p.Asp192Asn) rs138579182 0.02227
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.1936-299C>T rs77630402 0.02064
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.1164+87T>A rs142673093 0.01946
NM_000093.5(COL5A1):c.2088+227G>A rs12351175 0.01940
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.924+35C>A rs112243377 0.01719
NM_000093.5(COL5A1):c.2799+4T>C rs75815945 0.01279
NM_000093.5(COL5A1):c.925-44C>T rs41302966 0.01210
NM_000093.5(COL5A1):c.2852A>G (p.Asn951Ser) rs61736966 0.00972
NM_000093.5(COL5A1):c.-110A>G rs180741151 0.00852
NM_000093.5(COL5A1):c.787-15G>A rs150200872 0.00704
NM_000093.5(COL5A1):c.1566G>A (p.Leu522=) rs61737941 0.00682
NM_000093.5(COL5A1):c.1062C>T (p.Asp354=) rs61737708 0.00634
NM_000093.5(COL5A1):c.4135C>T (p.Pro1379Ser) rs61739195 0.00598
NM_000093.5(COL5A1):c.4231-12G>A rs188473199 0.00543
NM_000093.5(COL5A1):c.3690+44C>T rs76739261 0.00524
NM_000093.5(COL5A1):c.4393-17C>T rs141152269 0.00515
NM_000093.5(COL5A1):c.-37G>A rs374979485 0.00508
NM_000093.5(COL5A1):c.-382C>G rs555826102 0.00465
NM_000093.5(COL5A1):c.2799+13C>A rs75668257 0.00443
NM_000093.5(COL5A1):c.1333-8A>G rs145620416 0.00360
NM_000093.5(COL5A1):c.2439C>T (p.Asp813=) rs148648778 0.00340
NM_000093.5(COL5A1):c.278C>T (p.Ala93Val) rs41306397 0.00315
NM_000093.5(COL5A1):c.573C>T (p.Leu191=) rs116715381 0.00312
NM_000093.5(COL5A1):c.240C>T (p.Asp80=) rs79724538 0.00288
NM_000093.5(COL5A1):c.2058G>A (p.Pro686=) rs143443499 0.00283
NM_000093.5(COL5A1):c.4410C>T (p.Pro1470=) rs41310953 0.00253
NM_000093.5(COL5A1):c.110-19T>C rs148294644 0.00239
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.2700+38G>A rs373636275 0.00199
NM_000093.5(COL5A1):c.1158C>T (p.Ser386=) rs61729497 0.00194
NM_000093.5(COL5A1):c.378G>T (p.Gln126His) rs145178917 0.00192
NM_000093.5(COL5A1):c.4230+5C>T rs142248898 0.00182
NM_000093.5(COL5A1):c.2695G>A (p.Gly899Ser) rs149964491 0.00176
NM_000093.5(COL5A1):c.277+6T>G rs201910803 0.00174
NM_000093.5(COL5A1):c.4065C>T (p.Pro1355=) rs61737906 0.00164
NM_000093.5(COL5A1):c.-199C>T rs183791719 0.00162
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.1539C>T (p.Pro513=) rs151173863 0.00129
NM_000093.5(COL5A1):c.1077G>A (p.Glu359=) rs201166370 0.00124
NM_000093.5(COL5A1):c.193C>T (p.Arg65Trp) rs139468527 0.00124
NM_000093.5(COL5A1):c.-15C>A rs587780907 0.00119
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.924+13C>T rs199836060 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.3528+14C>T rs371865645 0.00086
NM_000093.5(COL5A1):c.1998C>T (p.Asp666=) rs143858735 0.00071
NM_000093.5(COL5A1):c.252C>T (p.Ser84=) rs151293601 0.00066
NM_000093.5(COL5A1):c.3115-14G>A rs368945793 0.00065
NM_000093.5(COL5A1):c.2031G>A (p.Glu677=) rs61737719 0.00062
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.2700+16C>T rs371771646 0.00056
NM_000093.5(COL5A1):c.3906+20G>A rs148053413 0.00047
NM_000093.5(COL5A1):c.2751G>A (p.Pro917=) rs200319017 0.00044
NM_000093.5(COL5A1):c.2089-9C>T rs181246690 0.00041
NM_000093.5(COL5A1):c.924+14G>A rs200595318 0.00041
NM_000093.5(COL5A1):c.126C>T (p.Leu42=) rs149369116 0.00040
NM_000093.5(COL5A1):c.1281G>A (p.Pro427=) rs147292897 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.3991G>A (p.Asp1331Asn) rs545973022 0.00033
NM_000093.5(COL5A1):c.3006+17C>T rs140528268 0.00031
NM_000093.5(COL5A1):c.3591C>T (p.Asp1197=) rs370349155 0.00031
NM_000093.5(COL5A1):c.3906+10C>T rs183881247 0.00030
NM_000093.5(COL5A1):c.2331+16G>A rs199654385 0.00028
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.1440C>T (p.Pro480=) rs150940930 0.00021
NM_000093.5(COL5A1):c.1774-7C>A rs371941850 0.00021
NM_000093.5(COL5A1):c.3888G>A (p.Pro1296=) rs375631252 0.00021
NM_000093.5(COL5A1):c.2844+20G>A rs200916696 0.00019
NM_000093.5(COL5A1):c.4162C>T (p.Pro1388Ser) rs61737942 0.00019
NM_000093.5(COL5A1):c.2799+11G>A rs377322092 0.00018
NM_000093.5(COL5A1):c.279G>A (p.Ala93=) rs145090868 0.00017
NM_000093.5(COL5A1):c.803G>T (p.Gly268Val) rs145552797 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.3114+12G>C rs528913410 0.00014
NM_000093.5(COL5A1):c.3291C>T (p.Ala1097=) rs371821655 0.00014
NM_000093.5(COL5A1):c.3906+19C>T rs571788196 0.00014
NM_000093.5(COL5A1):c.4308G>A (p.Pro1436=) rs200073020 0.00014
NM_000093.5(COL5A1):c.1967C>T (p.Pro656Leu) rs748345448 0.00013
NM_000093.5(COL5A1):c.409G>A (p.Val137Ile) rs145757313 0.00013
NM_000093.5(COL5A1):c.850G>A (p.Glu284Lys) rs75648697 0.00012
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.3528+19G>T rs200672136 0.00011
NM_000093.5(COL5A1):c.3594C>T (p.Gly1198=) rs146176718 0.00011
NM_000093.5(COL5A1):c.1120G>A (p.Ala374Thr) rs370499963 0.00010
NM_000093.5(COL5A1):c.1350C>T (p.Gly450=) rs576332528 0.00010
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.2386-7C>T rs746845504 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.1935+12C>T rs368245632 0.00009
NM_000093.5(COL5A1):c.2134-11G>C rs369317619 0.00009
NM_000093.5(COL5A1):c.2331+15C>T rs369093559 0.00009
NM_000093.5(COL5A1):c.3345G>A (p.Pro1115=) rs764683617 0.00009
NM_000093.5(COL5A1):c.3691-9T>C rs187584029 0.00009
NM_000093.5(COL5A1):c.3744+19C>T rs200498760 0.00009
NM_000093.5(COL5A1):c.4068+7G>A rs587780905 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.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.1149C>T (p.Thr383=) rs771885855 0.00007
NM_000093.5(COL5A1):c.3573A>G (p.Pro1191=) rs564398230 0.00007
NM_000093.5(COL5A1):c.4157C>T (p.Ser1386Leu) rs141605663 0.00007
NM_000093.5(COL5A1):c.4188C>T (p.Gly1396=) rs145363211 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.934C>G (p.Pro312Ala) rs140105243 0.00007
NM_000093.5(COL5A1):c.1809C>T (p.Ala603=) rs371345820 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.2983C>A (p.Pro995Thr) rs187022757 0.00006
NM_000093.5(COL5A1):c.3024G>A (p.Thr1008=) rs767002656 0.00006
NM_000093.5(COL5A1):c.3231A>G (p.Glu1077=) rs376248130 0.00006
NM_000093.5(COL5A1):c.3780C>T (p.Ser1260=) rs150591401 0.00006
NM_000093.5(COL5A1):c.3906+14C>T rs377136680 0.00006
NM_000093.5(COL5A1):c.3939G>T (p.Glu1313Asp) rs886063676 0.00006
NM_000093.5(COL5A1):c.4231-9G>A rs570545638 0.00006
NM_000093.5(COL5A1):c.761C>T (p.Ser254Leu) rs144844792 0.00006
NM_000093.5(COL5A1):c.791C>T (p.Thr264Met) rs148548209 0.00006
NM_000093.5(COL5A1):c.805G>A (p.Glu269Lys) rs761079177 0.00006
NM_000093.5(COL5A1):c.936G>A (p.Pro312=) rs150364815 0.00006
NM_000093.5(COL5A1):c.1143C>T (p.Ala381=) rs200245996 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.2310T>A (p.Pro770=) rs377123592 0.00005
NM_000093.5(COL5A1):c.2593-15T>C rs747677530 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.3398G>A (p.Arg1133Gln) rs759580799 0.00005
NM_000093.5(COL5A1):c.65C>A (p.Pro22Gln) rs863223467 0.00005
NM_000093.5(COL5A1):c.12T>C (p.His4=) rs368818087 0.00004
NM_000093.5(COL5A1):c.1307C>T (p.Ala436Val) rs144269434 0.00004
NM_000093.5(COL5A1):c.1346G>A (p.Arg449Gln) rs778297413 0.00004
NM_000093.5(COL5A1):c.145C>T (p.His49Tyr) rs372168541 0.00004
NM_000093.5(COL5A1):c.1528G>A (p.Asp510Asn) rs374204025 0.00004
NM_000093.5(COL5A1):c.1569+19C>T rs373086315 0.00004
NM_000093.5(COL5A1):c.1595C>T (p.Ala532Val) rs369000939 0.00004
NM_000093.5(COL5A1):c.2253C>T (p.Gly751=) rs772257562 0.00004
NM_000093.5(COL5A1):c.2268C>T (p.Pro756=) rs367755808 0.00004
NM_000093.5(COL5A1):c.2354C>T (p.Pro785Leu) rs760539229 0.00004
NM_000093.5(COL5A1):c.2997C>T (p.Val999=) rs201897490 0.00004
NM_000093.5(COL5A1):c.3247C>T (p.Pro1083Ser) rs370321707 0.00004
NM_000093.5(COL5A1):c.4374C>T (p.Asp1458=) rs201335857 0.00004
NM_000093.5(COL5A1):c.446C>T (p.Pro149Leu) rs369971694 0.00004
NM_000093.5(COL5A1):c.683C>T (p.Ser228Leu) rs770737485 0.00004
NM_000093.5(COL5A1):c.997G>A (p.Val333Ile) rs762624092 0.00004
NM_000093.5(COL5A1):c.1075G>A (p.Glu359Lys) rs769752636 0.00003
NM_000093.5(COL5A1):c.1114G>A (p.Ala372Thr) rs755289850 0.00003
NM_000093.5(COL5A1):c.1252G>C (p.Asp418His) rs767752804 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.2042G>A (p.Arg681His) rs371580094 0.00003
NM_000093.5(COL5A1):c.2415C>T (p.Gly805=) rs769239532 0.00003
NM_000093.5(COL5A1):c.2726G>A (p.Arg909Gln) rs747046727 0.00003
NM_000093.5(COL5A1):c.2905C>G (p.Pro969Ala) rs759627305 0.00003
NM_000093.5(COL5A1):c.2991C>T (p.Gly997=) rs766208976 0.00003
NM_000093.5(COL5A1):c.3086C>T (p.Pro1029Leu) rs768531108 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.3770G>A (p.Arg1257Gln) rs141768094 0.00003
NM_000093.5(COL5A1):c.3788C>T (p.Pro1263Leu) rs140244245 0.00003
NM_000093.5(COL5A1):c.3864C>T (p.Gly1288=) rs551695730 0.00003
NM_000093.5(COL5A1):c.3887C>T (p.Pro1296Leu) rs771130127 0.00003
NM_000093.5(COL5A1):c.4111C>G (p.Pro1371Ala) rs749162303 0.00003
NM_000093.5(COL5A1):c.4192G>A (p.Ala1398Thr) rs759464073 0.00003
NM_000093.5(COL5A1):c.4240G>A (p.Gly1414Ser) rs776709663 0.00003
NM_000093.5(COL5A1):c.660C>G (p.Asp220Glu) rs570691491 0.00003
NM_000093.5(COL5A1):c.700T>C (p.Tyr234His) rs757434449 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.1190C>T (p.Ala397Val) rs537424110 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.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.1591G>A (p.Asp531Asn) rs779170635 0.00002
NM_000093.5(COL5A1):c.187G>A (p.Ala63Thr) rs749697867 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.3599C>T (p.Pro1200Leu) rs781363147 0.00002
NM_000093.5(COL5A1):c.3753G>A (p.Pro1251=) rs779638584 0.00002
NM_000093.5(COL5A1):c.3856G>A (p.Glu1286Lys) rs149717587 0.00002
NM_000093.5(COL5A1):c.3897C>T (p.Gly1299=) rs745918663 0.00002
NM_000093.5(COL5A1):c.583G>A (p.Asp195Asn) rs781248560 0.00002
NM_000093.5(COL5A1):c.1000G>A (p.Gly334Ser) rs751277764 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.1172C>T (p.Pro391Leu) rs373102877 0.00001
NM_000093.5(COL5A1):c.1264G>C (p.Asp422His) rs760798318 0.00001
NM_000093.5(COL5A1):c.1280C>T (p.Pro427Leu) rs751337133 0.00001
NM_000093.5(COL5A1):c.1499C>T (p.Pro500Leu) rs778866843 0.00001
NM_000093.5(COL5A1):c.1561A>G (p.Met521Val) rs535161301 0.00001
NM_000093.5(COL5A1):c.1750G>A (p.Glu584Lys) rs764609002 0.00001
NM_000093.5(COL5A1):c.1943C>G (p.Pro648Arg) rs143211526 0.00001
NM_000093.5(COL5A1):c.1978G>A (p.Asp660Asn) rs990265730 0.00001
NM_000093.5(COL5A1):c.197G>A (p.Arg66Gln) rs146074704 0.00001
NM_000093.5(COL5A1):c.2057C>T (p.Pro686Leu) rs775102627 0.00001
NM_000093.5(COL5A1):c.2066C>T (p.Pro689Leu) rs1389473144 0.00001
NM_000093.5(COL5A1):c.2222C>T (p.Pro741Leu) rs1422097890 0.00001
NM_000093.5(COL5A1):c.2264T>G (p.Met755Arg) rs769653444 0.00001
NM_000093.5(COL5A1):c.2425G>A (p.Glu809Lys) rs1032017865 0.00001
NM_000093.5(COL5A1):c.243G>A (p.Ala81=) rs540291731 0.00001
NM_000093.5(COL5A1):c.2485-11C>T rs756350498 0.00001
NM_000093.5(COL5A1):c.253G>A (p.Ala85Thr) rs756903629 0.00001
NM_000093.5(COL5A1):c.2653A>G (p.Ile885Val) rs781756159 0.00001
NM_000093.5(COL5A1):c.2681A>G (p.Asn894Ser) rs542939338 0.00001
NM_000093.5(COL5A1):c.2709T>C (p.Pro903=) rs749844592 0.00001
NM_000093.5(COL5A1):c.2723C>T (p.Pro908Leu) rs772211736 0.00001
NM_000093.5(COL5A1):c.2725C>T (p.Arg909Trp) rs1257715072 0.00001
NM_000093.5(COL5A1):c.277+9C>T rs748589808 0.00001
NM_000093.5(COL5A1):c.2771G>A (p.Arg924Gln) rs768711320 0.00001
NM_000093.5(COL5A1):c.2812G>C (p.Gly938Arg) rs751950836 0.00001
NM_000093.5(COL5A1):c.2817C>T (p.Asp939=) rs750716466 0.00001
NM_000093.5(COL5A1):c.2845-8G>A rs775063630 0.00001
NM_000093.5(COL5A1):c.295G>T (p.Asp99Tyr) rs774095835 0.00001
NM_000093.5(COL5A1):c.3064C>T (p.Pro1022Ser) rs536758248 0.00001
NM_000093.5(COL5A1):c.3096T>A (p.Ala1032=) rs140590510 0.00001
NM_000093.5(COL5A1):c.3366+11C>T rs863223438 0.00001
NM_000093.5(COL5A1):c.368A>G (p.Gln123Arg) rs771075651 0.00001
NM_000093.5(COL5A1):c.370G>A (p.Gly124Ser) rs1356081271 0.00001
NM_000093.5(COL5A1):c.3812C>T (p.Pro1271Leu) rs771146636 0.00001
NM_000093.5(COL5A1):c.3852+47A>T rs111564392 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.4015-19C>T rs527971001 0.00001
NM_000093.5(COL5A1):c.4289C>G (p.Ala1430Gly) rs765920886 0.00001
NM_000093.5(COL5A1):c.4370C>T (p.Pro1457Leu) rs201875250 0.00001
NM_000093.5(COL5A1):c.458C>A (p.Pro153His) rs771925785 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.595A>G (p.Ile199Val) rs1041369357 0.00001
NM_000093.5(COL5A1):c.691C>T (p.Arg231Trp) rs775853003 0.00001
NM_000093.5(COL5A1):c.692G>A (p.Arg231Gln) rs373597685 0.00001
NM_000093.5(COL5A1):c.790A>C (p.Thr264Pro) rs863223440 0.00001
NM_000093.5(COL5A1):c.82C>A (p.Leu28Met) rs1312200383 0.00001
NM_000093.5(COL5A1):c.901A>G (p.Lys301Glu) rs1445863121 0.00001
GRCh37/hg19 9q34.3(chr9:137648314-137664433)x1
GRCh37/hg19 9q34.3(chr9:137721555-137730384)x1
NM_000093.5(COL5A1):c.1020C>T (p.Tyr340=)
NM_000093.5(COL5A1):c.1023G>A (p.Val341=)
NM_000093.5(COL5A1):c.1049C>T (p.Ser350Leu)
NM_000093.5(COL5A1):c.1052C>A (p.Pro351Gln) rs887190843
NM_000093.5(COL5A1):c.1052C>T (p.Pro351Leu) rs887190843
NM_000093.5(COL5A1):c.1084G>A (p.Glu362Lys)
NM_000093.5(COL5A1):c.1102A>C (p.Thr368Pro) rs766771487
NM_000093.5(COL5A1):c.1113C>T (p.Gly371=)
NM_000093.5(COL5A1):c.1141G>T (p.Ala381Ser)
NM_000093.5(COL5A1):c.1161C>T (p.Ser387=)
NM_000093.5(COL5A1):c.1173G>A (p.Pro391=)
NM_000093.5(COL5A1):c.1191G>T (p.Ala397=) rs199755089
NM_000093.5(COL5A1):c.1223C>T (p.Thr408Met) rs758197769
NM_000093.5(COL5A1):c.1224G>C (p.Thr408=) rs139406076
NM_000093.5(COL5A1):c.1252G>A (p.Asp418Asn)
NM_000093.5(COL5A1):c.1332+16C>T
NM_000093.5(COL5A1):c.1333-3dup rs773903401
NM_000093.5(COL5A1):c.1383C>G (p.Ile461Met) rs61736827
NM_000093.5(COL5A1):c.1390-18CT[3] rs863223441
NM_000093.5(COL5A1):c.1402G>A (p.Glu468Lys) rs754948598
NM_000093.5(COL5A1):c.1455C>T (p.Thr485=)
NM_000093.5(COL5A1):c.1494+129del rs112726102
NM_000093.5(COL5A1):c.149A>C (p.Asn50Thr)
NM_000093.5(COL5A1):c.149A>G (p.Asn50Ser) rs79138021
NM_000093.5(COL5A1):c.150C>T (p.Asn50=)
NM_000093.5(COL5A1):c.1583G>T (p.Gly528Val)
NM_000093.5(COL5A1):c.1590C>T (p.Gly530=) rs769010469
NM_000093.5(COL5A1):c.1596G>A (p.Ala532=)
NM_000093.5(COL5A1):c.1608C>A (p.Gly536=)
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.1691T>A (p.Met564Lys) rs1258095362
NM_000093.5(COL5A1):c.1720-158C>G rs73664129
NM_000093.5(COL5A1):c.1733G>A (p.Ser578Asn)
NM_000093.5(COL5A1):c.1735G>A (p.Gly579Arg)
NM_000093.5(COL5A1):c.1762G>A (p.Val588Met)
NM_000093.5(COL5A1):c.180C>A (p.Gly60=)
NM_000093.5(COL5A1):c.1869A>C (p.Gln623His)
NM_000093.5(COL5A1):c.1881+292G>A rs7025035
NM_000093.5(COL5A1):c.188C>T (p.Ala63Val)
NM_000093.5(COL5A1):c.1923G>T (p.Glu641Asp) rs780322561
NM_000093.5(COL5A1):c.1936-21G>A rs77716946
NM_000093.5(COL5A1):c.1970C>A (p.Pro657Gln)
NM_000093.5(COL5A1):c.1977C>A (p.Asp659Glu) rs370766020
NM_000093.5(COL5A1):c.1977C>T (p.Asp659=) rs370766020
NM_000093.5(COL5A1):c.1990-12del
NM_000093.5(COL5A1):c.1990-12dup rs1445580029
NM_000093.5(COL5A1):c.2031G>T (p.Glu677Asp)
NM_000093.5(COL5A1):c.2109C>T (p.Gly703=)
NM_000093.5(COL5A1):c.2118G>T (p.Gly706=)
NM_000093.5(COL5A1):c.2119C>A (p.Pro707Thr)
NM_000093.5(COL5A1):c.2133+14del
NM_000093.5(COL5A1):c.216T>C (p.Asp72=)
NM_000093.5(COL5A1):c.2202C>T (p.Pro734=)
NM_000093.5(COL5A1):c.2233-142G>C rs41302968
NM_000093.5(COL5A1):c.2277C>T (p.Asp759=)
NM_000093.5(COL5A1):c.2331+247_2331+265dup rs6151208
NM_000093.5(COL5A1):c.2332-3del rs2132747868
NM_000093.5(COL5A1):c.2386-174C>T rs77928388
NM_000093.5(COL5A1):c.2386-210_2386-209del rs35886496
NM_000093.5(COL5A1):c.2430+16C>T rs530385215
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.2545G>A (p.Gly849Arg)
NM_000093.5(COL5A1):c.2555A>T (p.Asn852Ile) rs148146480
NM_000093.5(COL5A1):c.2569C>T (p.Pro857Ser) rs1254955559
NM_000093.5(COL5A1):c.257C>G (p.Pro86Arg)
NM_000093.5(COL5A1):c.2586G>A (p.Gly862=)
NM_000093.5(COL5A1):c.2592+16C>G rs145429817
NM_000093.5(COL5A1):c.2592+16C>T rs145429817
NM_000093.5(COL5A1):c.2592+75G>A rs71506921
NM_000093.5(COL5A1):c.26C>A (p.Ala9Glu) rs900216804
NM_000093.5(COL5A1):c.2700+19dup
NM_000093.5(COL5A1):c.2701-15dup
NM_000093.5(COL5A1):c.2746-11C>G
NM_000093.5(COL5A1):c.2799+112dup rs79903250
NM_000093.5(COL5A1):c.2800-18C>A rs73664144
NM_000093.5(COL5A1):c.2800-18C>T rs73664144
NM_000093.5(COL5A1):c.2830C>T (p.Pro944Ser)
NM_000093.5(COL5A1):c.2831C>T (p.Pro944Leu) rs756440511
NM_000093.5(COL5A1):c.2898+287TC[3] rs10636721
NM_000093.5(COL5A1):c.2898+53_2898+72del rs142676375
NM_000093.5(COL5A1):c.2899-7dup
NM_000093.5(COL5A1):c.2905C>T (p.Pro969Ser) rs759627305
NM_000093.5(COL5A1):c.2929C>T (p.His977Tyr)
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.2970C>T (p.Thr990=)
NM_000093.5(COL5A1):c.2983C>T (p.Pro995Ser) rs187022757
NM_000093.5(COL5A1):c.2986C>T (p.Pro996Ser) rs774351619
NM_000093.5(COL5A1):c.3031A>G (p.Met1011Val)
NM_000093.5(COL5A1):c.3121C>G (p.Pro1041Ala) rs751792216
NM_000093.5(COL5A1):c.3228T>C (p.Asn1076=)
NM_000093.5(COL5A1):c.3260G>C (p.Gly1087Ala) rs559882772
NM_000093.5(COL5A1):c.3333A>C (p.Gly1111=)
NM_000093.5(COL5A1):c.3335C>T (p.Pro1112Leu)
NM_000093.5(COL5A1):c.338A>G (p.Gln113Arg)
NM_000093.5(COL5A1):c.3454C>T (p.Pro1152Ser) rs1424921275
NM_000093.5(COL5A1):c.3474+48G>A rs79433650
NM_000093.5(COL5A1):c.3475-208G>T rs13293484
NM_000093.5(COL5A1):c.3488A>C (p.Glu1163Ala)
NM_000093.5(COL5A1):c.34G>A (p.Ala12Thr) rs1160540030
NM_000093.5(COL5A1):c.3528+46G>C rs3827850
NM_000093.5(COL5A1):c.3535C>T (p.Pro1179Ser)
NM_000093.5(COL5A1):c.3738C>A (p.Gly1246=)
NM_000093.5(COL5A1):c.3784G>A (p.Ala1262Thr) rs1211791316
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[8] rs375849402
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.3859C>A (p.Pro1287Thr)
NM_000093.5(COL5A1):c.3906+15G>A rs370937109
NM_000093.5(COL5A1):c.3906+15G>C rs370937109
NM_000093.5(COL5A1):c.3964C>A (p.Pro1322Thr)
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.4123-69A>G rs3811149
NM_000093.5(COL5A1):c.4176+162C>A rs79839026
NM_000093.5(COL5A1):c.4176+257C>G rs11103537
NM_000093.5(COL5A1):c.4190C>G (p.Pro1397Arg)
NM_000093.5(COL5A1):c.4273A>T (p.Ile1425Phe)
NM_000093.5(COL5A1):c.431C>T (p.Thr144Met) rs561761305
NM_000093.5(COL5A1):c.4374C>A (p.Asp1458Glu) rs201335857
NM_000093.5(COL5A1):c.4378C>T (p.Pro1460Ser) rs773125713
NM_000093.5(COL5A1):c.4393-13C>A
NM_000093.5(COL5A1):c.452A>G (p.Asp151Gly)
NM_000093.5(COL5A1):c.453C>G (p.Asp151Glu) rs373089071
NM_000093.5(COL5A1):c.466C>T (p.Arg156Trp)
NM_000093.5(COL5A1):c.49G>T (p.Ala17Ser)
NM_000093.5(COL5A1):c.576C>A (p.Asp192Glu)
NM_000093.5(COL5A1):c.601A>C (p.Ile201Leu) rs371351417
NM_000093.5(COL5A1):c.616G>A (p.Val206Met)
NM_000093.5(COL5A1):c.626C>T (p.Thr209Ile)
NM_000093.5(COL5A1):c.646G>T (p.Val216Leu)
NM_000093.5(COL5A1):c.654+165T>G rs11103472
NM_000093.5(COL5A1):c.655-186_655-185insACGGATGGATGG rs139171326
NM_000093.5(COL5A1):c.655-219GGAT[7] rs71381829
NM_000093.5(COL5A1):c.655-219GGAT[9] rs71381829
NM_000093.5(COL5A1):c.67CTG[5] (p.Leu28del) rs773994971
NM_000093.5(COL5A1):c.731G>A (p.Cys244Tyr)
NM_000093.5(COL5A1):c.787-9C>T rs751472921
NM_000093.5(COL5A1):c.802G>A (p.Gly268Ser) rs748603743
NM_000093.5(COL5A1):c.840C>T (p.Tyr280=)
NM_000093.5(COL5A1):c.851A>G (p.Glu284Gly)
NM_000093.5(COL5A1):c.857T>C (p.Leu286Pro)
NM_000093.5(COL5A1):c.889G>A (p.Val297Met)
NM_000093.5(COL5A1):c.891G>A (p.Val297=)
NM_000093.5(COL5A1):c.924+194A>C rs3128597
NM_000093.5(COL5A1):c.935C>G (p.Pro312Arg) rs367726185
NM_000093.5(COL5A1):c.935C>T (p.Pro312Leu) rs367726185
NM_000093.5(COL5A1):c.95C>A (p.Pro32His)
NM_000093.5(COL5A1):c.983G>A (p.Gly328Glu) rs576742644

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