ClinVar Miner

List of variants reported as benign for Ehlers-Danlos syndrome, classic type, 1

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 687
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HGVS dbSNP gnomAD frequency
NM_000093.5(COL5A1):c.-247T>G rs71483234 0.99656
NM_000393.5(COL5A2):c.3411T>C (p.Gly1137=) rs6434312 0.96092
NM_000393.5(COL5A2):c.1311A>G (p.Pro437=) rs2229495 0.95762
NM_000393.5(COL5A2):c.315C>A (p.Thr105=) rs4128539 0.93266
NM_000093.5(COL5A1):c.*83C>T rs13946 0.76018
NM_000093.5(COL5A1):c.4955-28T>C rs7868111 0.71337
NM_000093.5(COL5A1):c.1332+92C>G rs3124310 0.65636
NM_000093.5(COL5A1):c.4608+31T>C rs9697186 0.65324
NM_000093.5(COL5A1):c.2701-22C>T rs4072883 0.65253
NM_000093.5(COL5A1):c.4230+103T>C rs11792894 0.61932
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.2952+11A>T rs4240707 0.51759
NM_000093.5(COL5A1):c.2845-37A>G rs3811159 0.48917
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.*267C>T rs12722 0.43642
NM_000093.5(COL5A1):c.1332+46T>C rs3109675 0.41683
NM_000093.5(COL5A1):c.925-49A>G rs3124308 0.39937
NM_000093.5(COL5A1):c.787-42C>T rs3124302 0.39339
NM_000093.5(COL5A1):c.925-43G>A rs3128598 0.39167
NM_000093.5(COL5A1):c.2430+20C>T rs3124932 0.36524
NM_000093.5(COL5A1):c.738C>T (p.Thr246=) rs3124299 0.35617
NM_000093.5(COL5A1):c.4230+118C>T rs7847840 0.32683
NM_000093.5(COL5A1):c.4176+9T>G rs10858282 0.31635
NM_000093.5(COL5A1):c.1569+16A>G rs12685946 0.28997
NM_000093.5(COL5A1):c.1720-48T>C rs10123014 0.27505
NM_000093.5(COL5A1):c.1570-59T>C rs12686426 0.22190
NM_000093.5(COL5A1):c.3475-42G>C rs3811152 0.21811
NM_000093.5(COL5A1):c.1720-34C>T rs73558067 0.20873
NM_000093.5(COL5A1):c.4177-107T>C rs7854010 0.20224
NM_000093.5(COL5A1):c.1332+25C>T rs56385965 0.19286
NM_000093.5(COL5A1):c.2431-25G>A rs41310213 0.16712
NM_000093.5(COL5A1):c.1720-47C>T rs79679217 0.16159
NM_000093.5(COL5A1):c.1827+45G>A rs11103502 0.15294
NM_000093.5(COL5A1):c.4122G>A (p.Thr1374=) rs3827848 0.14130
NM_000393.5(COL5A2):c.852+14C>T rs56310996 0.14063
NM_000393.5(COL5A2):c.568-10G>A rs58106884 0.13232
NM_000093.5(COL5A1):c.1936-35C>A rs10858278 0.13121
NM_000093.5(COL5A1):c.3745-37G>A rs45629034 0.10800
NM_000093.5(COL5A1):c.3745-18G>A rs45556931 0.10575
NM_000393.5(COL5A2):c.3690A>C (p.Thr1230=) rs10197596 0.09320
NM_000393.5(COL5A2):c.3720T>C (p.Tyr1240=) rs10208525 0.09281
NM_000093.5(COL5A1):c.1092C>T (p.Pro364=) rs41306391 0.08110
NM_000093.5(COL5A1):c.2593-45G>A rs45497895 0.08009
NM_000093.5(COL5A1):c.1569+15C>T rs62574081 0.07860
NM_000093.5(COL5A1):c.2646+27C>T rs13301426 0.07295
NM_000093.5(COL5A1):c.*311C>T rs1134114 0.07049
NM_000093.5(COL5A1):c.110-34C>T rs72772548 0.07019
NM_000393.5(COL5A2):c.315= (p.Thr105=) rs4128539 0.06919
NM_000093.5(COL5A1):c.1431G>A (p.Ala477=) rs61729545 0.05733
NM_000093.5(COL5A1):c.4447-45G>A rs3811147 0.04567
NM_000093.5(COL5A1):c.2745+15A>T rs79481146 0.04269
NM_000393.5(COL5A2):c.1311= (p.Pro437=) rs2229495 0.04193
NM_000093.5(COL5A1):c.3475-36A>C rs13297647 0.03921
NM_000093.5(COL5A1):c.3528+43G>A rs41306395 0.03911
NM_000393.5(COL5A2):c.3411= (p.Gly1137=) rs6434312 0.03908
NM_000093.5(COL5A1):c.2700+46C>T rs34636935 0.03889
NM_000093.5(COL5A1):c.4560C>T (p.Ile1520=) rs2228559 0.03503
NM_000393.5(COL5A2):c.1378C>T (p.Pro460Ser) rs35830636 0.03364
NM_000093.5(COL5A1):c.2892C>T (p.Gly964=) rs78511105 0.03349
NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045 0.03150
NM_000093.5(COL5A1):c.4230+6G>A rs77176843 0.02617
NM_000093.5(COL5A1):c.2724G>A (p.Pro908=) rs41310207 0.02534
NM_000093.5(COL5A1):c.4393-9C>T rs11792181 0.02489
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.574G>A (p.Asp192Asn) rs138579182 0.02227
NM_000093.5(COL5A1):c.2034+24C>T rs41298367 0.02041
NM_000393.5(COL5A2):c.1535T>C (p.Val512Ala) rs35852101 0.01792
NM_000393.5(COL5A2):c.1081A>C (p.Met361Leu) rs76148000 0.01714
NM_000093.5(COL5A1):c.4955-16C>T rs112712705 0.01710
NM_000093.5(COL5A1):c.5067+20C>G rs112600748 0.01689
NM_000393.5(COL5A2):c.4449C>T (p.Gly1483=) rs78905646 0.01586
NM_000393.5(COL5A2):c.403-16T>A rs117085226 0.01490
NM_000393.5(COL5A2):c.1006-9C>T rs73978832 0.01485
NM_000093.5(COL5A1):c.5068-7T>C rs113256540 0.01472
NM_000393.5(COL5A2):c.2498C>T (p.Pro833Leu) rs116298748 0.01471
NM_000393.5(COL5A2):c.98-12T>G rs117917418 0.01288
NM_000093.5(COL5A1):c.2799+4T>C rs75815945 0.01279
NM_000093.5(COL5A1):c.5190C>T (p.Phe1730=) rs61729481 0.01084
NM_000093.5(COL5A1):c.2852A>G (p.Asn951Ser) rs61736966 0.00985
NM_000393.5(COL5A2):c.1400C>T (p.Pro467Leu) rs115570272 0.00924
NM_000393.5(COL5A2):c.2661+20G>A rs79623676 0.00876
NM_000093.5(COL5A1):c.4699-6C>T rs113090154 0.00853
NM_000093.5(COL5A1):c.-110A>G rs180741151 0.00852
NM_000393.5(COL5A2):c.1104+15T>C rs75486409 0.00772
NM_000393.5(COL5A2):c.975C>T (p.Pro325=) rs144344474 0.00770
NM_000093.5(COL5A1):c.5151C>T (p.Asp1717=) rs61729558 0.00725
NM_000393.5(COL5A2):c.370-16C>T rs148220961 0.00708
NM_000093.5(COL5A1):c.787-15G>A rs150200872 0.00704
NM_000393.5(COL5A2):c.2554-14A>G rs142429770 0.00703
NM_000393.5(COL5A2):c.249C>T (p.Ala83=) rs142388534 0.00687
NM_000093.5(COL5A1):c.1566G>A (p.Leu522=) rs61737941 0.00682
NM_000093.5(COL5A1):c.5136+40A>G rs183298179 0.00653
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.*283G>A rs114171895 0.00596
NM_000093.5(COL5A1):c.*14C>T rs12553247 0.00580
NM_000393.5(COL5A2):c.3689C>G (p.Thr1230Arg) rs62184175 0.00525
NM_000093.5(COL5A1):c.4231-12G>A rs188473199 0.00514
NM_000093.5(COL5A1):c.-37G>A rs374979485 0.00508
NM_000093.5(COL5A1):c.5270C>T (p.Thr1757Met) rs2229817 0.00506
NM_000093.5(COL5A1):c.5137-12C>T rs191758714 0.00493
NM_000093.5(COL5A1):c.4393-17C>T rs141152269 0.00486
NM_000393.5(COL5A2):c.2769+19A>T rs111609220 0.00481
NM_000093.5(COL5A1):c.4955-48G>A rs60879388 0.00480
NM_000093.5(COL5A1):c.5137-11T>C rs183495554 0.00479
NM_000393.5(COL5A2):c.2716-4C>T rs111644889 0.00479
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.5407G>A (p.Asp1803Asn) rs61729495 0.00358
NM_000093.5(COL5A1):c.1333-8A>G rs145620416 0.00330
NM_000093.5(COL5A1):c.2439C>T (p.Asp813=) rs148648778 0.00327
NM_000093.5(COL5A1):c.278C>T (p.Ala93Val) rs41306397 0.00315
NM_000393.5(COL5A2):c.198T>C (p.Asn66=) rs76511879 0.00306
NM_000093.5(COL5A1):c.573C>T (p.Leu191=) rs116715381 0.00297
NM_000093.5(COL5A1):c.2058G>A (p.Pro686=) rs143443499 0.00283
NM_000093.5(COL5A1):c.240C>T (p.Asp80=) rs79724538 0.00268
NM_000393.5(COL5A2):c.2032-7G>A rs141571092 0.00265
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.378G>T (p.Gln126His) rs145178917 0.00238
NM_000393.5(COL5A2):c.4389A>G (p.Glu1463=) rs146100075 0.00235
NM_000393.5(COL5A2):c.2562C>T (p.Asp854=) rs148430780 0.00232
NM_000393.5(COL5A2):c.4197G>A (p.Gln1399=) rs78870279 0.00221
NM_000093.5(COL5A1):c.1158C>T (p.Ser386=) rs61729497 0.00194
NM_000093.5(COL5A1):c.4230+5C>T rs142248898 0.00182
NM_000393.5(COL5A2):c.1454C>A (p.Pro485Gln) rs145281966 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.3259-8C>T rs146461106 0.00159
NM_000093.5(COL5A1):c.194G>A (p.Arg65Gln) rs116003670 0.00152
NM_000393.5(COL5A2):c.1618-19C>G rs189970491 0.00144
NM_000093.5(COL5A1):c.193C>T (p.Arg65Trp) rs139468527 0.00141
NM_000393.5(COL5A2):c.2011C>T (p.Pro671Ser) rs139189200 0.00133
NM_000393.5(COL5A2):c.3098C>T (p.Pro1033Leu) rs75542756 0.00132
NM_000093.5(COL5A1):c.61C>T (p.Pro21Ser) rs548525119 0.00131
NM_000393.5(COL5A2):c.33C>T (p.Leu11=) rs140108893 0.00130
NM_000093.5(COL5A1):c.1539C>T (p.Pro513=) rs151173863 0.00129
NM_000093.5(COL5A1):c.1077G>A (p.Glu359=) rs201166370 0.00123
NM_000393.5(COL5A2):c.1035G>C (p.Gly345=) rs148786600 0.00118
NM_000093.5(COL5A1):c.4788G>C (p.Gly1596=) rs138436047 0.00116
NM_000393.5(COL5A2):c.3039+15C>T rs114619770 0.00116
NM_000393.5(COL5A2):c.3316C>T (p.Arg1106Trp) rs146789395 0.00110
NM_000093.5(COL5A1):c.924+13C>T rs199836060 0.00106
NM_000093.5(COL5A1):c.1383C>T (p.Ile461=) rs61736827 0.00102
NM_000093.5(COL5A1):c.3204+3G>A rs202054108 0.00102
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_000393.5(COL5A2):c.261G>A (p.Thr87=) rs142044596 0.00097
NM_000093.5(COL5A1):c.12T>C (p.His4=) rs368818087 0.00095
NM_000093.5(COL5A1):c.3528+14C>T rs371865645 0.00086
NM_000093.5(COL5A1):c.4795G>C (p.Glu1599Gln) rs149212775 0.00083
NM_000393.5(COL5A2):c.4173C>G (p.Arg1391=) rs148590409 0.00079
NM_000393.5(COL5A2):c.2376A>C (p.Gly792=) rs35860166 0.00078
NM_000393.5(COL5A2):c.2931+11C>T rs184002749 0.00073
NM_000393.5(COL5A2):c.3364-17C>T rs201720941 0.00070
NM_000093.5(COL5A1):c.1998C>T (p.Asp666=) rs143858735 0.00066
NM_000093.5(COL5A1):c.252C>T (p.Ser84=) rs151293601 0.00064
NM_000393.5(COL5A2):c.2787G>A (p.Ala929=) rs151027388 0.00064
NM_000093.5(COL5A1):c.2031G>A (p.Glu677=) rs61737719 0.00062
NM_000093.5(COL5A1):c.3115-14G>A rs368945793 0.00060
NM_000393.5(COL5A2):c.186T>C (p.Cys62=) rs142832916 0.00060
NM_000093.5(COL5A1):c.996C>T (p.Asp332=) rs144763302 0.00058
NM_000393.5(COL5A2):c.3021C>T (p.Pro1007=) rs143318792 0.00058
NM_000393.5(COL5A2):c.3471+8A>T rs367643805 0.00055
NM_000093.5(COL5A1):c.2700+16C>T rs371771646 0.00051
NM_000393.5(COL5A2):c.2770-5A>G rs370313198 0.00051
NM_000093.5(COL5A1):c.3906+20G>A rs148053413 0.00047
NM_000393.5(COL5A2):c.1456-20T>C rs150724439 0.00046
NM_000393.5(COL5A2):c.798+10C>T rs368165817 0.00044
NM_000393.5(COL5A2):c.322+18C>G rs201708256 0.00042
NM_000093.5(COL5A1):c.2089-9C>T rs181246690 0.00041
NM_000093.5(COL5A1):c.2751G>A (p.Pro917=) rs200319017 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.3069C>T (p.Pro1023=) rs139070070 0.00038
NM_000393.5(COL5A2):c.745-13G>A rs145442880 0.00038
NM_000393.5(COL5A2):c.3310-17T>A rs201791446 0.00036
NM_000093.5(COL5A1):c.3474+7C>T rs550497696 0.00035
NM_000093.5(COL5A1):c.1281G>A (p.Pro427=) rs147292897 0.00034
NM_000093.5(COL5A1):c.4683A>C (p.Gly1561=) rs149959668 0.00034
NM_000093.5(COL5A1):c.4015-19C>T rs527971001 0.00032
NM_000393.5(COL5A2):c.1017A>C (p.Gly339=) rs140609193 0.00032
NM_000093.5(COL5A1):c.3006+17C>T rs140528268 0.00031
NM_000393.5(COL5A2):c.1869+12G>A rs375194122 0.00031
NM_000093.5(COL5A1):c.3991G>A (p.Asp1331Asn) rs545973022 0.00030
NM_000093.5(COL5A1):c.5370+11C>T rs764644830 0.00030
NM_000393.5(COL5A2):c.2230-16T>A rs375334470 0.00029
NM_000393.5(COL5A2):c.2291C>G (p.Pro764Arg) rs150260969 0.00029
NM_000093.5(COL5A1):c.2331+16G>A rs199654385 0.00027
NM_000393.5(COL5A2):c.2963C>T (p.Thr988Met) rs369072636 0.00026
NM_000093.5(COL5A1):c.5371-17G>A rs376639668 0.00025
NM_000093.5(COL5A1):c.4393-19C>T rs186732287 0.00024
NM_000093.5(COL5A1):c.5182A>G (p.Met1728Val) rs138068984 0.00022
NM_000093.5(COL5A1):c.5469G>C (p.Ala1823=) rs367657505 0.00022
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.1440C>T (p.Pro480=) rs150940930 0.00019
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.5370+14G>A rs201082330 0.00019
NM_000093.5(COL5A1):c.2799+11G>A rs377322092 0.00018
NM_000393.5(COL5A2):c.2263A>C (p.Thr755Pro) rs34395097 0.00018
NM_000093.5(COL5A1):c.2493C>T (p.Ile831=) rs199630108 0.00017
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_000393.5(COL5A2):c.2533G>A (p.Val845Ile) rs375124784 0.00017
NM_000093.5(COL5A1):c.3114+12G>C rs528913410 0.00015
NM_000093.5(COL5A1):c.4383C>T (p.Pro1461=) rs368551709 0.00015
NM_000093.5(COL5A1):c.4941C>T (p.Pro1647=) rs747549921 0.00015
NM_000093.5(COL5A1):c.680T>C (p.Val227Ala) rs376144196 0.00015
NM_000093.5(COL5A1):c.3906+19C>T rs571788196 0.00014
NM_000093.5(COL5A1):c.4308G>A (p.Pro1436=) rs200073020 0.00014
NM_000393.5(COL5A2):c.2307T>A (p.Ile769=) rs763068575 0.00014
NM_000093.5(COL5A1):c.1967C>T (p.Pro656Leu) rs748345448 0.00013
NM_000093.5(COL5A1):c.3130G>A (p.Ala1044Thr) rs370143255 0.00013
NM_000093.5(COL5A1):c.3744+19C>T rs200498760 0.00013
NM_000093.5(COL5A1):c.409G>A (p.Val137Ile) rs145757313 0.00013
NM_000093.5(COL5A1):c.3291C>T (p.Ala1097=) rs371821655 0.00012
NM_000093.5(COL5A1):c.4968C>T (p.Val1656=) rs201871481 0.00012
NM_000093.5(COL5A1):c.1832G>A (p.Arg611Gln) rs200590188 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.4659G>A (p.Pro1553=) rs368782334 0.00011
NM_000393.5(COL5A2):c.1716+9A>G rs201934598 0.00011
NM_000393.5(COL5A2):c.1977+12T>G rs202204374 0.00011
NM_000093.5(COL5A1):c.-4C>G rs769694875 0.00010
NM_000093.5(COL5A1):c.1120G>A (p.Ala374Thr) rs370499963 0.00010
NM_000093.5(COL5A1):c.1754C>T (p.Pro585Leu) rs530442560 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.5034G>A (p.Ser1678=) rs148006741 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.2134-11G>C rs369317619 0.00009
NM_000093.5(COL5A1):c.3691-9T>C rs187584029 0.00009
NM_000093.5(COL5A1):c.4172A>G (p.Lys1391Arg) rs201801000 0.00009
NM_000093.5(COL5A1):c.4607C>T (p.Pro1536Leu) rs761837954 0.00009
NM_000093.5(COL5A1):c.5097C>G (p.Asn1699Lys) rs138396959 0.00009
NM_000093.5(COL5A1):c.5389A>C (p.Lys1797Gln) rs560106611 0.00009
NM_000093.5(COL5A1):c.684G>A (p.Ser228=) rs139705205 0.00009
NM_000393.5(COL5A2):c.2712G>A (p.Pro904=) rs372869641 0.00009
NM_000393.5(COL5A2):c.3465C>T (p.Gly1155=) rs574148843 0.00009
NM_000393.5(COL5A2):c.3542T>G (p.Val1181Gly) rs200845884 0.00009
NM_000093.5(COL5A1):c.1495-11C>A rs199501759 0.00008
NM_000093.5(COL5A1):c.1935+12C>T rs368245632 0.00008
NM_000093.5(COL5A1):c.2331+15C>T rs369093559 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.4717A>G (p.Ile1573Val) rs373448943 0.00008
NM_000093.5(COL5A1):c.5250G>A (p.Val1750=) rs200348547 0.00008
NM_000093.5(COL5A1):c.1149C>T (p.Thr383=) rs771885855 0.00007
NM_000093.5(COL5A1):c.1507C>T (p.Arg503Cys) rs781485753 0.00007
NM_000093.5(COL5A1):c.1596G>A (p.Ala532=) rs772157071 0.00007
NM_000093.5(COL5A1):c.1726C>T (p.Pro576Ser) rs763246328 0.00007
NM_000093.5(COL5A1):c.191C>T (p.Thr64Met) rs777376620 0.00007
NM_000093.5(COL5A1):c.3573A>G (p.Pro1191=) rs564398230 0.00007
NM_000093.5(COL5A1):c.3864C>T (p.Gly1288=) rs551695730 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.4748C>T (p.Thr1583Met) rs375076580 0.00007
NM_000093.5(COL5A1):c.5154C>T (p.Ala1718=) rs147434147 0.00007
NM_000093.5(COL5A1):c.5293C>T (p.Arg1765Cys) rs199703883 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.1569+19C>T rs373086315 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.2430+16C>T rs530385215 0.00006
NM_000093.5(COL5A1):c.2983C>A (p.Pro995Thr) rs187022757 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.4892C>T (p.Thr1631Met) rs764446683 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.934C>G (p.Pro312Ala) rs140105243 0.00006
NM_000393.5(COL5A2):c.2852G>A (p.Gly951Glu) rs772448543 0.00006
NM_000393.5(COL5A2):c.437G>A (p.Arg146Gln) rs144430633 0.00006
NM_000393.5(COL5A2):c.567+17G>T rs780672109 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.1971G>A (p.Pro657=) rs981088114 0.00005
NM_000093.5(COL5A1):c.2253C>T (p.Gly751=) rs772257562 0.00005
NM_000093.5(COL5A1):c.2424C>T (p.Gly808=) rs139343205 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.3024G>A (p.Thr1008=) rs767002656 0.00005
NM_000093.5(COL5A1):c.3398G>A (p.Arg1133Gln) rs759580799 0.00005
NM_000093.5(COL5A1):c.4803C>T (p.Tyr1601=) rs199637893 0.00005
NM_000093.5(COL5A1):c.4812C>T (p.Tyr1604=) rs542783734 0.00005
NM_000093.5(COL5A1):c.65C>A (p.Pro22Gln) rs863223467 0.00005
NM_000093.5(COL5A1):c.936G>A (p.Pro312=) rs150364815 0.00005
NM_000393.5(COL5A2):c.389G>A (p.Arg130His) rs377331666 0.00005
NM_000393.5(COL5A2):c.4114-11T>C rs587780908 0.00005
NM_000393.5(COL5A2):c.4325G>A (p.Arg1442Gln) rs761126767 0.00005
NM_000393.5(COL5A2):c.4471G>A (p.Val1491Ile) rs200703515 0.00005
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.1595C>T (p.Ala532Val) rs369000939 0.00004
NM_000093.5(COL5A1):c.2268C>T (p.Pro756=) rs367755808 0.00004
NM_000093.5(COL5A1):c.2277C>T (p.Asp759=) rs372185208 0.00004
NM_000093.5(COL5A1):c.2310T>A (p.Pro770=) rs377123592 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.3488A>C (p.Glu1163Ala) rs749332467 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.4473C>T (p.Ile1491=) rs537768945 0.00004
NM_000093.5(COL5A1):c.4751G>A (p.Arg1584Gln) rs369501428 0.00004
NM_000093.5(COL5A1):c.4942G>A (p.Asp1648Asn) rs771354369 0.00004
NM_000093.5(COL5A1):c.5311G>A (p.Asp1771Asn) rs1005244744 0.00004
NM_000093.5(COL5A1):c.683C>T (p.Ser228Leu) rs770737485 0.00004
NM_000093.5(COL5A1):c.739G>A (p.Ala247Thr) rs769115550 0.00004
NM_000093.5(COL5A1):c.997G>A (p.Val333Ile) rs762624092 0.00004
NM_000393.5(COL5A2):c.233A>T (p.Asp78Val) rs201022138 0.00004
NM_000393.5(COL5A2):c.3614T>C (p.Val1205Ala) rs148110552 0.00004
NM_000093.5(COL5A1):c.1075G>A (p.Glu359Lys) rs769752636 0.00003
NM_000093.5(COL5A1):c.1084G>A (p.Glu362Lys) rs571932580 0.00003
NM_000093.5(COL5A1):c.1114G>A (p.Ala372Thr) rs755289850 0.00003
NM_000093.5(COL5A1):c.1152C>T (p.Ser384=) rs1275606080 0.00003
NM_000093.5(COL5A1):c.1252G>C (p.Asp418His) rs767752804 0.00003
NM_000093.5(COL5A1):c.1304C>T (p.Pro435Leu) rs772379819 0.00003
NM_000093.5(COL5A1):c.1307C>T (p.Ala436Val) rs144269434 0.00003
NM_000093.5(COL5A1):c.150C>T (p.Asn50=) rs897432620 0.00003
NM_000093.5(COL5A1):c.1591G>A (p.Asp531Asn) rs779170635 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.3247C>T (p.Pro1083Ser) rs370321707 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.3887C>T (p.Pro1296Leu) rs771130127 0.00003
NM_000093.5(COL5A1):c.3964C>A (p.Pro1322Thr) rs773060648 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.4522C>A (p.Pro1508Thr) rs148687561 0.00003
NM_000093.5(COL5A1):c.4697C>T (p.Pro1566Leu) rs375540141 0.00003
NM_000093.5(COL5A1):c.4880G>A (p.Arg1627Gln) rs761802703 0.00003
NM_000093.5(COL5A1):c.4909C>T (p.Arg1637Cys) rs753433375 0.00003
NM_000093.5(COL5A1):c.49G>T (p.Ala17Ser) rs890143450 0.00003
NM_000093.5(COL5A1):c.5041G>A (p.Val1681Ile) rs764763703 0.00003
NM_000093.5(COL5A1):c.5126G>A (p.Arg1709His) rs193275092 0.00003
NM_000093.5(COL5A1):c.5294G>A (p.Arg1765His) rs150608071 0.00003
NM_000093.5(COL5A1):c.5348G>A (p.Arg1783His) rs777045810 0.00003
NM_000093.5(COL5A1):c.5371-15C>T rs369764872 0.00003
NM_000093.5(COL5A1):c.5393C>T (p.Thr1798Met) rs761036527 0.00003
NM_000093.5(COL5A1):c.616G>A (p.Val206Met) rs777065347 0.00003
NM_000093.5(COL5A1):c.660C>G (p.Asp220Glu) rs570691491 0.00003
NM_000393.5(COL5A2):c.1073C>T (p.Ala358Val) rs886039197 0.00003
NM_000393.5(COL5A2):c.1478C>T (p.Pro493Leu) rs755909523 0.00003
NM_000393.5(COL5A2):c.2711C>T (p.Pro904Leu) rs189320512 0.00003
NM_000393.5(COL5A2):c.4402A>G (p.Asn1468Asp) rs756550702 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.1161C>T (p.Ser387=) rs765977756 0.00002
NM_000093.5(COL5A1):c.1173G>A (p.Pro391=) rs763292133 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.187G>A (p.Ala63Thr) rs749697867 0.00002
NM_000093.5(COL5A1):c.2022G>C (p.Leu674=) rs552160454 0.00002
NM_000093.5(COL5A1):c.2118G>T (p.Gly706=) rs766527693 0.00002
NM_000093.5(COL5A1):c.216T>C (p.Asp72=) rs1174370124 0.00002
NM_000093.5(COL5A1):c.243G>A (p.Ala81=) rs540291731 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.295G>T (p.Asp99Tyr) rs774095835 0.00002
NM_000093.5(COL5A1):c.3064C>T (p.Pro1022Ser) rs536758248 0.00002
NM_000093.5(COL5A1):c.3357A>G (p.Lys1119=) rs1161037397 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.3788C>T (p.Pro1263Leu) rs140244245 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.453C>G (p.Asp151Glu) rs373089071 0.00002
NM_000093.5(COL5A1):c.4577C>T (p.Pro1526Leu) rs863223459 0.00002
NM_000093.5(COL5A1):c.4753C>T (p.Arg1585Trp) rs546865410 0.00002
NM_000093.5(COL5A1):c.4794C>T (p.Gly1598=) rs863223481 0.00002
NM_000093.5(COL5A1):c.4837G>A (p.Gly1613Ser) rs772523567 0.00002
NM_000093.5(COL5A1):c.4879C>T (p.Arg1627Trp) rs558906147 0.00002
NM_000093.5(COL5A1):c.5040C>T (p.Cys1680=) rs533929992 0.00002
NM_000093.5(COL5A1):c.5057A>G (p.Lys1686Arg) rs748278656 0.00002
NM_000093.5(COL5A1):c.5195G>A (p.Arg1732Gln) rs767300218 0.00002
NM_000093.5(COL5A1):c.5338C>T (p.Pro1780Ser) rs781230603 0.00002
NM_000093.5(COL5A1):c.583G>A (p.Asp195Asn) rs781248560 0.00002
NM_000393.5(COL5A2):c.1463A>G (p.His488Arg) rs149305351 0.00002
NM_000393.5(COL5A2):c.1515C>T (p.Pro505=) rs552362833 0.00002
NM_000393.5(COL5A2):c.1818A>G (p.Gly606=) rs779425239 0.00002
NM_000393.5(COL5A2):c.2343C>T (p.Gly781=) rs762976916 0.00002
NM_000393.5(COL5A2):c.2661+13G>T rs534626192 0.00002
NM_000393.5(COL5A2):c.293A>G (p.Gln98Arg) rs374402209 0.00002
NM_000393.5(COL5A2):c.3019C>T (p.Pro1007Ser) rs1388564782 0.00002
NM_000393.5(COL5A2):c.3170C>A (p.Thr1057Asn) rs201186702 0.00002
NM_000393.5(COL5A2):c.4239C>T (p.Asp1413=) rs529257786 0.00002
NM_000393.5(COL5A2):c.750G>A (p.Pro250=) rs751819198 0.00002
NM_000393.5(COL5A2):c.906+10A>T rs776578452 0.00002
NM_000093.5(COL5A1):c.1000G>A (p.Gly334Ser) rs751277764 0.00001
NM_000093.5(COL5A1):c.1017C>T (p.Asp339=) rs750894041 0.00001
NM_000093.5(COL5A1):c.1020C>T (p.Tyr340=) rs1202896735 0.00001
NM_000093.5(COL5A1):c.1021G>A (p.Val341Met) rs756703956 0.00001
NM_000093.5(COL5A1):c.1023G>A (p.Val341=) rs200058261 0.00001
NM_000093.5(COL5A1):c.1113C>T (p.Gly371=) rs754423580 0.00001
NM_000093.5(COL5A1):c.1123G>A (p.Glu375Lys) rs777789161 0.00001
NM_000093.5(COL5A1):c.1132A>C (p.Thr378Pro) rs757379111 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.1190C>T (p.Ala397Val) rs537424110 0.00001
NM_000093.5(COL5A1):c.1264G>C (p.Asp422His) rs760798318 0.00001
NM_000093.5(COL5A1):c.1270A>G (p.Thr424Ala) rs535363331 0.00001
NM_000093.5(COL5A1):c.1280C>T (p.Pro427Leu) rs751337133 0.00001
NM_000093.5(COL5A1):c.1346G>A (p.Arg449Gln) rs778297413 0.00001
NM_000093.5(COL5A1):c.1402G>A (p.Glu468Lys) rs754948598 0.00001
NM_000093.5(COL5A1):c.1455C>T (p.Thr485=) rs777922028 0.00001
NM_000093.5(COL5A1):c.1484C>T (p.Pro495Leu) rs144909439 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.1583G>T (p.Gly528Val) rs571592071 0.00001
NM_000093.5(COL5A1):c.1608C>A (p.Gly536=) rs1270101358 0.00001
NM_000093.5(COL5A1):c.1733G>A (p.Ser578Asn) rs773186449 0.00001
NM_000093.5(COL5A1):c.1735G>A (p.Gly579Arg) rs770761070 0.00001
NM_000093.5(COL5A1):c.1750G>A (p.Glu584Lys) rs764609002 0.00001
NM_000093.5(COL5A1):c.1762G>A (p.Val588Met) rs918680618 0.00001
NM_000093.5(COL5A1):c.180C>A (p.Gly60=) rs753715354 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.2109C>T (p.Gly703=) rs773522047 0.00001
NM_000093.5(COL5A1):c.2119C>A (p.Pro707Thr) rs776908617 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.242C>T (p.Ala81Val) rs752620199 0.00001
NM_000093.5(COL5A1):c.2485-11C>T rs756350498 0.00001
NM_000093.5(COL5A1):c.2545G>A (p.Gly849Arg) rs780407879 0.00001
NM_000093.5(COL5A1):c.257C>G (p.Pro86Arg) rs1417550671 0.00001
NM_000093.5(COL5A1):c.2586G>A (p.Gly862=) rs768322848 0.00001
NM_000093.5(COL5A1):c.2681A>G (p.Asn894Ser) rs542939338 0.00001
NM_000093.5(COL5A1):c.26C>A (p.Ala9Glu) rs900216804 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.2830C>T (p.Pro944Ser) rs1047016771 0.00001
NM_000093.5(COL5A1):c.2970C>T (p.Thr990=) rs548678914 0.00001
NM_000093.5(COL5A1):c.3031A>G (p.Met1011Val) rs749912491 0.00001
NM_000093.5(COL5A1):c.3055C>T (p.Pro1019Ser) rs193920927 0.00001
NM_000093.5(COL5A1):c.3096T>A (p.Ala1032=) rs140590510 0.00001
NM_000093.5(COL5A1):c.3333A>C (p.Gly1111=) rs968104367 0.00001
NM_000093.5(COL5A1):c.3335C>T (p.Pro1112Leu) rs199754313 0.00001
NM_000093.5(COL5A1):c.338A>G (p.Gln113Arg) rs753420441 0.00001
NM_000093.5(COL5A1):c.3535C>T (p.Pro1179Ser) rs371361067 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.3868G>A (p.Ala1290Thr) rs863223451 0.00001
NM_000093.5(COL5A1):c.3947C>G (p.Pro1316Arg) rs371550819 0.00001
NM_000093.5(COL5A1):c.4273A>T (p.Ile1425Phe) rs1365809793 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.4393-13C>A rs762503790 0.00001
NM_000093.5(COL5A1):c.4523C>T (p.Pro1508Leu) rs144384167 0.00001
NM_000093.5(COL5A1):c.452A>G (p.Asp151Gly) rs1337546039 0.00001
NM_000093.5(COL5A1):c.4586C>A (p.Pro1529His) rs201582108 0.00001
NM_000093.5(COL5A1):c.458C>A (p.Pro153His) rs771925785 0.00001
NM_000093.5(COL5A1):c.4613C>T (p.Pro1538Leu) rs775335297 0.00001
NM_000093.5(COL5A1):c.4641C>G (p.Ser1547=) rs1280179438 0.00001
NM_000093.5(COL5A1):c.466C>T (p.Arg156Trp) rs760354881 0.00001
NM_000093.5(COL5A1):c.4693C>T (p.Pro1565Ser) rs770278589 0.00001
NM_000093.5(COL5A1):c.4714G>A (p.Val1572Ile) rs543014323 0.00001
NM_000093.5(COL5A1):c.4750C>T (p.Arg1584Trp) rs758378927 0.00001
NM_000093.5(COL5A1):c.4813G>A (p.Ala1605Thr) rs1024649360 0.00001
NM_000093.5(COL5A1):c.4815G>A (p.Ala1605=) rs755728242 0.00001
NM_000093.5(COL5A1):c.4928A>G (p.Gln1643Arg) rs730880064 0.00001
NM_000093.5(COL5A1):c.4943A>G (p.Asp1648Gly) rs746071518 0.00001
NM_000093.5(COL5A1):c.508C>G (p.Leu170Val) rs188120737 0.00001
NM_000093.5(COL5A1):c.5125C>T (p.Arg1709Cys) rs375586129 0.00001
NM_000093.5(COL5A1):c.5152G>A (p.Ala1718Thr) rs760992656 0.00001
NM_000093.5(COL5A1):c.5202G>C (p.Leu1734=) rs755818283 0.00001
NM_000093.5(COL5A1):c.5206G>A (p.Ala1736Thr) rs753339980 0.00001
NM_000093.5(COL5A1):c.5217C>A (p.His1739Gln) rs869025374 0.00001
NM_000093.5(COL5A1):c.5224G>A (p.Val1742Ile) rs946316218 0.00001
NM_000093.5(COL5A1):c.5234A>G (p.His1745Arg) rs370607849 0.00001
NM_000093.5(COL5A1):c.5247A>G (p.Ser1749=) rs772507886 0.00001
NM_000093.5(COL5A1):c.5263G>A (p.Ala1755Thr) rs776748227 0.00001
NM_000093.5(COL5A1):c.5266G>A (p.Ala1756Thr) rs769947722 0.00001
NM_000093.5(COL5A1):c.5274C>T (p.Gly1758=) rs1470851092 0.00001
NM_000093.5(COL5A1):c.5307C>T (p.Ser1769=) rs754379329 0.00001
NM_000093.5(COL5A1):c.5354T>C (p.Leu1785Pro) rs760426656 0.00001
NM_000093.5(COL5A1):c.5394G>A (p.Thr1798=) rs200515325 0.00001
NM_000093.5(COL5A1):c.5453A>G (p.Asn1818Ser) rs863223482 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.626C>T (p.Thr209Ile) rs560686479 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.700T>C (p.Tyr234His) rs757434449 0.00001
NM_000093.5(COL5A1):c.790A>C (p.Thr264Pro) rs863223440 0.00001
NM_000093.5(COL5A1):c.802G>A (p.Gly268Ser) rs748603743 0.00001
NM_000093.5(COL5A1):c.82C>A (p.Leu28Met) rs1312200383 0.00001
NM_000093.5(COL5A1):c.840C>T (p.Tyr280=) rs765347784 0.00001
NM_000093.5(COL5A1):c.851A>G (p.Glu284Gly) rs750381860 0.00001
NM_000093.5(COL5A1):c.857T>C (p.Leu286Pro) rs766155415 0.00001
NM_000093.5(COL5A1):c.891G>A (p.Val297=) rs201656806 0.00001
NM_000093.5(COL5A1):c.901A>G (p.Lys301Glu) rs1445863121 0.00001
NM_000093.5(COL5A1):c.95C>A (p.Pro32His) rs1320177911 0.00001
NM_000393.5(COL5A2):c.1524C>T (p.Asp508=) rs530691194 0.00001
NM_000393.5(COL5A2):c.1900A>C (p.Asn634His) rs1487147556 0.00001
NM_000393.5(COL5A2):c.238C>G (p.Leu80Val) rs746454126 0.00001
NM_000393.5(COL5A2):c.2793C>T (p.Pro931=) rs952993848 0.00001
NM_000393.5(COL5A2):c.283G>C (p.Val95Leu) rs1200990468 0.00001
NM_000393.5(COL5A2):c.2988C>T (p.Gly996=) rs201299226 0.00001
NM_000393.5(COL5A2):c.3061C>A (p.Pro1021Thr) rs751955635 0.00001
NM_000393.5(COL5A2):c.3497C>G (p.Ala1166Gly) rs779028940 0.00001
NM_000393.5(COL5A2):c.383G>A (p.Arg128His) rs757439328 0.00001
NM_000393.5(COL5A2):c.3880C>T (p.Arg1294Cys) rs758136981 0.00001
NM_000393.5(COL5A2):c.414A>T (p.Gly138=) rs763787551 0.00001
NM_000393.5(COL5A2):c.4467C>T (p.Phe1489=) rs531204336 0.00001
NM_000393.5(COL5A2):c.539C>A (p.Ser180Tyr) rs773211165 0.00001
NM_000393.5(COL5A2):c.68C>T (p.Ser23Leu) rs1335028282 0.00001
NM_000393.5(COL5A2):c.86A>G (p.Glu29Gly) rs780865605 0.00001
NM_000093.5(COL5A1):c.*733C>A rs3196378
NM_000093.5(COL5A1):c.1049C>T (p.Ser350Leu) rs778988409
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.1078G>C (p.Gly360Arg)
NM_000093.5(COL5A1):c.109+17del
NM_000093.5(COL5A1):c.1102A>C (p.Thr368Pro) rs766771487
NM_000093.5(COL5A1):c.1141G>T (p.Ala381Ser) rs768269251
NM_000093.5(COL5A1):c.1191G>T (p.Ala397=) rs199755089
NM_000093.5(COL5A1):c.1201G>A (p.Glu401Lys)
NM_000093.5(COL5A1):c.1208A>C (p.Glu403Ala)
NM_000093.5(COL5A1):c.1223C>T (p.Thr408Met) rs758197769
NM_000093.5(COL5A1):c.1252G>A (p.Asp418Asn) rs767752804
NM_000093.5(COL5A1):c.1264G>A (p.Asp422Asn) rs760798318
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.1390-3dup
NM_000093.5(COL5A1):c.1398C>T (p.Leu466=)
NM_000093.5(COL5A1):c.149A>C (p.Asn50Thr) rs79138021
NM_000093.5(COL5A1):c.149A>G (p.Asn50Ser) rs79138021
NM_000093.5(COL5A1):c.1590C>T (p.Gly530=) rs769010469
NM_000093.5(COL5A1):c.1691T>A (p.Met564Lys) rs1258095362
NM_000093.5(COL5A1):c.1807G>T (p.Ala603Ser)
NM_000093.5(COL5A1):c.1869A>C (p.Gln623His) rs1432525695
NM_000093.5(COL5A1):c.1871C>T (p.Thr624Ile)
NM_000093.5(COL5A1):c.188C>T (p.Ala63Val) rs758009092
NM_000093.5(COL5A1):c.1914G>A (p.Leu638=)
NM_000093.5(COL5A1):c.1923G>T (p.Glu641Asp) rs780322561
NM_000093.5(COL5A1):c.1936-21G>A rs77716946
NM_000093.5(COL5A1):c.1956C>T (p.Gly652=)
NM_000093.5(COL5A1):c.1970C>A (p.Pro657Gln) rs149912828
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 rs1445580029
NM_000093.5(COL5A1):c.1990-12dup rs1445580029
NM_000093.5(COL5A1):c.1997A>T (p.Asp666Val)
NM_000093.5(COL5A1):c.2031G>T (p.Glu677Asp) rs61737719
NM_000093.5(COL5A1):c.2040A>T (p.Pro680=)
NM_000093.5(COL5A1):c.2133+14del rs1441837649
NM_000093.5(COL5A1):c.2202C>T (p.Pro734=) rs373940849
NM_000093.5(COL5A1):c.2222C>T (p.Pro741Leu) rs1422097890
NM_000093.5(COL5A1):c.2332-3del rs2132747868
NM_000093.5(COL5A1):c.2484+14G>A rs371753763
NM_000093.5(COL5A1):c.2497C>T (p.Pro833Ser) rs370547479
NM_000093.5(COL5A1):c.253G>A (p.Ala85Thr) rs756903629
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.2592+16C>G rs145429817
NM_000093.5(COL5A1):c.2592+16C>T rs145429817
NM_000093.5(COL5A1):c.2653A>G (p.Ile885Val) rs781756159
NM_000093.5(COL5A1):c.2700+19dup rs757039159
NM_000093.5(COL5A1):c.2701-15dup rs745396706
NM_000093.5(COL5A1):c.2746-11C>G rs748505927
NM_000093.5(COL5A1):c.2800-18C>A rs73664144
NM_000093.5(COL5A1):c.2800-18C>T rs73664144
NM_000093.5(COL5A1):c.2831C>T (p.Pro944Leu) rs756440511
NM_000093.5(COL5A1):c.2899-7dup rs765275390
NM_000093.5(COL5A1):c.2905C>T (p.Pro969Ser) rs759627305
NM_000093.5(COL5A1):c.2929C>T (p.His977Tyr) rs752716154
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.3033G>A (p.Met1011Ile)
NM_000093.5(COL5A1):c.3121C>G (p.Pro1041Ala) rs751792216
NM_000093.5(COL5A1):c.3228T>C (p.Asn1076=) rs769227916
NM_000093.5(COL5A1):c.3260G>C (p.Gly1087Ala) rs559882772
NM_000093.5(COL5A1):c.3379C>T (p.Pro1127Ser)
NM_000093.5(COL5A1):c.3454C>T (p.Pro1152Ser) rs1424921275
NM_000093.5(COL5A1):c.34G>A (p.Ala12Thr) rs1160540030
NM_000093.5(COL5A1):c.3528+46G>C rs3827850
NM_000093.5(COL5A1):c.3672T>G (p.Pro1224=)
NM_000093.5(COL5A1):c.3696G>A (p.Leu1232=)
NM_000093.5(COL5A1):c.3738C>A (p.Gly1246=) rs762055489
NM_000093.5(COL5A1):c.3784G>A (p.Ala1262Thr) rs1211791316
NM_000093.5(COL5A1):c.3841G>C (p.Val1281Leu)
NM_000093.5(COL5A1):c.3859C>A (p.Pro1287Thr) rs1162388207
NM_000093.5(COL5A1):c.3906+15G>A rs370937109
NM_000093.5(COL5A1):c.3906+15G>C rs370937109
NM_000093.5(COL5A1):c.4020A>G (p.Pro1340=) rs776564144
NM_000093.5(COL5A1):c.4039C>A (p.Pro1347Thr)
NM_000093.5(COL5A1):c.4048C>G (p.Pro1350Ala) rs762699995
NM_000093.5(COL5A1):c.4190C>G (p.Pro1397Arg) rs773167288
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.4482G>A (p.Pro1494=) rs2228560
NM_000093.5(COL5A1):c.4482G>C (p.Pro1494=) rs2228560
NM_000093.5(COL5A1):c.4515C>T (p.Leu1505=) rs764114280
NM_000093.5(COL5A1):c.4692C>T (p.Gly1564=) rs61735501
NM_000093.5(COL5A1):c.4699-3del rs1554808051
NM_000093.5(COL5A1):c.4704C>T (p.Pro1568=) rs745536617
NM_000093.5(COL5A1):c.4754G>A (p.Arg1585Gln) rs531431738
NM_000093.5(COL5A1):c.4795G>A (p.Glu1599Lys) rs149212775
NM_000093.5(COL5A1):c.4814C>G (p.Ala1605Gly) rs145175057
NM_000093.5(COL5A1):c.4847A>G (p.Asn1616Ser)
NM_000093.5(COL5A1):c.4911C>T (p.Arg1637=) rs778483767
NM_000093.5(COL5A1):c.4954+17dup rs757067716
NM_000093.5(COL5A1):c.4971T>C (p.Asp1657=) rs1462341702
NM_000093.5(COL5A1):c.5033C>T (p.Ser1678Leu) rs145299315
NM_000093.5(COL5A1):c.5052C>G (p.Asp1684Glu) rs558556902
NM_000093.5(COL5A1):c.5062G>A (p.Glu1688Lys) rs745821520
NM_000093.5(COL5A1):c.5148G>A (p.Val1716=) rs772597610
NM_000093.5(COL5A1):c.5194C>T (p.Arg1732Trp) rs201379514
NM_000093.5(COL5A1):c.521A>G (p.Lys174Arg)
NM_000093.5(COL5A1):c.5311G>T (p.Asp1771Tyr) rs1005244744
NM_000093.5(COL5A1):c.5329G>A (p.Asp1777Asn) rs863223462
NM_000093.5(COL5A1):c.5350G>T (p.Ala1784Ser) rs143859495
NM_000093.5(COL5A1):c.540C>G (p.Ile180Met)
NM_000093.5(COL5A1):c.5414C>G (p.Pro1805Arg) rs377563294
NM_000093.5(COL5A1):c.5428G>T (p.Val1810Leu) rs758427867
NM_000093.5(COL5A1):c.5468C>T (p.Ala1823Val) rs747656987
NM_000093.5(COL5A1):c.5510T>C (p.Met1837Thr) rs1305590414
NM_000093.5(COL5A1):c.576C>A (p.Asp192Glu) rs1226994577
NM_000093.5(COL5A1):c.601A>C (p.Ile201Leu) rs371351417
NM_000093.5(COL5A1):c.646G>T (p.Val216Leu) rs1291246867
NM_000093.5(COL5A1):c.698C>G (p.Ala233Gly)
NM_000093.5(COL5A1):c.731G>A (p.Cys244Tyr) rs777671838
NM_000093.5(COL5A1):c.889G>A (p.Val297Met) rs757893904
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.983G>A (p.Gly328Glu) rs576742644
NM_000393.5(COL5A2):c.1021C>T (p.Pro341Ser) rs538602187
NM_000393.5(COL5A2):c.1081A>G (p.Met361Val) rs76148000
NM_000393.5(COL5A2):c.1216G>A (p.Glu406Lys) rs1260535878
NM_000393.5(COL5A2):c.1455+6G>A rs113512079
NM_000393.5(COL5A2):c.1491C>A (p.Pro497=) rs570269920
NM_000393.5(COL5A2):c.16G>A (p.Ala6Thr) rs372910621
NM_000393.5(COL5A2):c.1717-9dup rs749225081
NM_000393.5(COL5A2):c.2086-12del rs5837121
NM_000393.5(COL5A2):c.2086-13_2086-12del rs5837121
NM_000393.5(COL5A2):c.2086-13_2086-12dup rs5837121
NM_000393.5(COL5A2):c.2086-23dup rs5837121
NM_000393.5(COL5A2):c.2291C>T (p.Pro764Leu) rs150260969
NM_000393.5(COL5A2):c.233A>G (p.Asp78Gly) rs201022138
NM_000393.5(COL5A2):c.2507G>C (p.Arg836Pro) rs751683516
NM_000393.5(COL5A2):c.2534T>C (p.Val845Ala)
NM_000393.5(COL5A2):c.2721T>A (p.Ala907=)
NM_000393.5(COL5A2):c.2770-15del rs577038385
NM_000393.5(COL5A2):c.2867G>A (p.Arg956Gln) rs6434313
NM_000393.5(COL5A2):c.2867G>C (p.Arg956Pro) rs6434313
NM_000393.5(COL5A2):c.2884C>T (p.Pro962Ser) rs754018138
NM_000393.5(COL5A2):c.3310-19dup rs767565265
NM_000393.5(COL5A2):c.3363+17del rs759671468
NM_000393.5(COL5A2):c.552C>T (p.Pro184=) rs548352939
NM_000393.5(COL5A2):c.799-15dup rs1169314276
NM_000393.5(COL5A2):c.961-11dup rs542134887
NM_000393.5(COL5A2):c.961-3del rs542134887

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.