ClinVar Miner

List of variants in gene COL5A1 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 399
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HGVS dbSNP
NM_000093.3(COL5A1):c.1502delC (p.Pro501Leufs) rs1085307855
NM_000093.3(COL5A1):c.2784delG (p.Lys929Serfs) rs863223472
NM_000093.3(COL5A1):c.312_314delAAC (p.Thr105del) rs863223476
NM_000093.3(COL5A1):c.4283delA (p.Gln1428Argfs) rs863223474
NM_000093.4(COL5A1):c.-14C>T rs1334351036
NM_000093.4(COL5A1):c.-15C>A rs587780907
NM_000093.4(COL5A1):c.-17G>A rs1554772552
NM_000093.4(COL5A1):c.-28_-7del22 rs1554772545
NM_000093.4(COL5A1):c.-33G>T rs1057523091
NM_000093.4(COL5A1):c.-37G>A rs374979485
NM_000093.4(COL5A1):c.-4C>G rs769694875
NM_000093.4(COL5A1):c.1044G>A (p.Thr348=) rs1246095864
NM_000093.4(COL5A1):c.1062C>T (p.Asp354=) rs61737708
NM_000093.4(COL5A1):c.1077G>A (p.Glu359=) rs201166370
NM_000093.4(COL5A1):c.1089C>G (p.Asn363Lys) rs773870913
NM_000093.4(COL5A1):c.1092C>T (p.Pro364=) rs41306391
NM_000093.4(COL5A1):c.110-19T>C rs148294644
NM_000093.4(COL5A1):c.1147A>G (p.Thr383Ala) rs747758069
NM_000093.4(COL5A1):c.1158C>T (p.Ser386=) rs61729497
NM_000093.4(COL5A1):c.1163A>G (p.Asn388Ser) rs150837465
NM_000093.4(COL5A1):c.1165-8C>T rs770303209
NM_000093.4(COL5A1):c.1183G>T (p.Glu395Ter) rs1554788339
NM_000093.4(COL5A1):c.1189G>A (p.Ala397Thr) rs762108965
NM_000093.4(COL5A1):c.1191G>T (p.Ala397=) rs199755089
NM_000093.4(COL5A1):c.1197C>T (p.Asp399=) rs1024770210
NM_000093.4(COL5A1):c.1210T>C (p.Phe404Leu) rs1052185173
NM_000093.4(COL5A1):c.1224G>A (p.Thr408=) rs139406076
NM_000093.4(COL5A1):c.1224G>C (p.Thr408=) rs139406076
NM_000093.4(COL5A1):c.1229G>A (p.Arg410Gln) rs769244075
NM_000093.4(COL5A1):c.126C>T (p.Leu42=) rs149369116
NM_000093.4(COL5A1):c.1281G>A (p.Pro427=) rs147292897
NM_000093.4(COL5A1):c.1283C>T (p.Ser428Leu) rs770793962
NM_000093.4(COL5A1):c.1293G>T (p.Gly431=) rs373460629
NM_000093.4(COL5A1):c.12T>C (p.His4=) rs368818087
NM_000093.4(COL5A1):c.1303C>G (p.Pro435Ala) rs377488010
NM_000093.4(COL5A1):c.1332+1G>T rs1064796684
NM_000093.4(COL5A1):c.1332+20C>T rs935688642
NM_000093.4(COL5A1):c.1333-8A>G rs145620416
NM_000093.4(COL5A1):c.1345C>T (p.Arg449Trp) rs374020067
NM_000093.4(COL5A1):c.1350C>T (p.Gly450=) rs576332528
NM_000093.4(COL5A1):c.1351G>A (p.Glu451Lys) rs755546104
NM_000093.4(COL5A1):c.1368A>G (p.Gly456=) rs1554788483
NM_000093.4(COL5A1):c.1383C>T (p.Ile461=) rs61736827
NM_000093.4(COL5A1):c.1388C>T (p.Pro463Leu) rs201375465
NM_000093.4(COL5A1):c.1389G>A (p.Pro463=) rs1057518771
NM_000093.4(COL5A1):c.1390-12_1390-11delCT rs863223441
NM_000093.4(COL5A1):c.1390-4C>T rs1382134438
NM_000093.4(COL5A1):c.1410G>A (p.Pro470=) rs148389741
NM_000093.4(COL5A1):c.1431+11G>A rs768116740
NM_000093.4(COL5A1):c.1431G>A (p.Ala477=) rs61729545
NM_000093.4(COL5A1):c.1432-18C>T rs761261485
NM_000093.4(COL5A1):c.1432-5T>C rs3128612
NM_000093.4(COL5A1):c.1440C>T (p.Pro480=) rs150940930
NM_000093.4(COL5A1):c.145C>T (p.His49Tyr) rs372168541
NM_000093.4(COL5A1):c.1465A>G (p.Thr489Ala) rs863223468
NM_000093.4(COL5A1):c.1476C>T (p.Val492=) rs141093527
NM_000093.4(COL5A1):c.149A>G (p.Asn50Ser) rs79138021
NM_000093.4(COL5A1):c.1503delT (p.Gly502Aspfs) rs1554792011
NM_000093.4(COL5A1):c.1507C>T (p.Arg503Cys) rs781485753
NM_000093.4(COL5A1):c.1527C>T (p.Ala509=) rs746510456
NM_000093.4(COL5A1):c.1528G>A (p.Asp510Asn) rs374204025
NM_000093.4(COL5A1):c.1535T>C (p.Leu512Pro) rs863223442
NM_000093.4(COL5A1):c.1539C>T (p.Pro513=) rs151173863
NM_000093.4(COL5A1):c.1561A>G (p.Met521Val) rs535161301
NM_000093.4(COL5A1):c.1566G>A (p.Leu522=) rs61737941
NM_000093.4(COL5A1):c.1569+15C>T rs62574081
NM_000093.4(COL5A1):c.1569+16A>G rs12685946
NM_000093.4(COL5A1):c.1574G>A (p.Arg525Gln) rs375762619
NM_000093.4(COL5A1):c.157G>C (p.Asp53His) rs763026096
NM_000093.4(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045
NM_000093.4(COL5A1):c.1590C>T (p.Gly530=) rs769010469
NM_000093.4(COL5A1):c.1595C>T (p.Ala532Val) rs369000939
NM_000093.4(COL5A1):c.1637C>T (p.Ala546Val) rs557361751
NM_000093.4(COL5A1):c.1688C>T (p.Pro563Leu) rs753260027
NM_000093.4(COL5A1):c.170A>G (p.Lys57Arg) rs1131691360
NM_000093.4(COL5A1):c.1720-11T>A rs863223444
NM_000093.4(COL5A1):c.1720-3T>C rs960627780
NM_000093.4(COL5A1):c.1726C>T (p.Pro576Ser) rs763246328
NM_000093.4(COL5A1):c.1752G>A (p.Glu584=) rs376865199
NM_000093.4(COL5A1):c.1774-16C>T rs755041858
NM_000093.4(COL5A1):c.1774-7C>A rs371941850
NM_000093.4(COL5A1):c.1787T>C (p.Val596Ala) rs754773665
NM_000093.4(COL5A1):c.1794C>G (p.Gly598=) rs370565229
NM_000093.4(COL5A1):c.1805C>T (p.Pro602Leu) rs749007253
NM_000093.4(COL5A1):c.1809C>T (p.Ala603=) rs371345820
NM_000093.4(COL5A1):c.1818C>T (p.Pro606=) rs761257919
NM_000093.4(COL5A1):c.1827+16G>A rs745897562
NM_000093.4(COL5A1):c.1831C>T (p.Arg611Trp) rs147329970
NM_000093.4(COL5A1):c.1840A>C (p.Ser614Arg) rs863223477
NM_000093.4(COL5A1):c.1888C>T (p.Arg630Trp) rs577618553
NM_000093.4(COL5A1):c.1896C>T (p.Phe632=) rs376478864
NM_000093.4(COL5A1):c.191C>T (p.Thr64Met) rs777376620
NM_000093.4(COL5A1):c.1935+12C>T rs368245632
NM_000093.4(COL5A1):c.1935+8T>G rs79195626
NM_000093.4(COL5A1):c.1936-10C>T rs779506561
NM_000093.4(COL5A1):c.1936-15C>G rs755787951
NM_000093.4(COL5A1):c.1936-16C>G rs199694949
NM_000093.4(COL5A1):c.193C>T (p.Arg65Trp) rs139468527
NM_000093.4(COL5A1):c.194G>A (p.Arg65Gln) rs116003670
NM_000093.4(COL5A1):c.1953C>T (p.Ser651=) rs78215347
NM_000093.4(COL5A1):c.1970C>T (p.Pro657Leu) rs149912828
NM_000093.4(COL5A1):c.1977C>T (p.Asp659=) rs370766020
NM_000093.4(COL5A1):c.1998C>T (p.Asp666=) rs143858735
NM_000093.4(COL5A1):c.2031G>A (p.Glu677=) rs61737719
NM_000093.4(COL5A1):c.2032C>T (p.Pro678Ser) rs756190610
NM_000093.4(COL5A1):c.2034+18G>C rs200055343
NM_000093.4(COL5A1):c.2038C>T (p.Pro680Ser) rs376920171
NM_000093.4(COL5A1):c.2049G>C (p.Leu683=) rs1060504529
NM_000093.4(COL5A1):c.2058G>A (p.Pro686=) rs143443499
NM_000093.4(COL5A1):c.2079C>T (p.Pro693=) rs186098435
NM_000093.4(COL5A1):c.2088C>T (p.Pro696=) rs146757272
NM_000093.4(COL5A1):c.2089-8G>A rs368595229
NM_000093.4(COL5A1):c.2089-9C>T rs181246690
NM_000093.4(COL5A1):c.2096C>T (p.Thr699Met) rs142313124
NM_000093.4(COL5A1):c.210C>T (p.Gly70=) rs1161786135
NM_000093.4(COL5A1):c.2114C>T (p.Pro705Leu) rs375456811
NM_000093.4(COL5A1):c.2134-11G>C rs369317619
NM_000093.4(COL5A1):c.2140C>T (p.Gln714Ter) rs1554796176
NM_000093.4(COL5A1):c.2159dup (p.Gly721Argfs) rs863223469
NM_000093.4(COL5A1):c.2162dup (p.Gln722Thrfs) rs863223470
NM_000093.4(COL5A1):c.2174A>G (p.Asn725Ser) rs142612655
NM_000093.4(COL5A1):c.2181C>A (p.Gly727=) rs201298716
NM_000093.4(COL5A1):c.2184C>A (p.Ala728=) rs150993138
NM_000093.4(COL5A1):c.2187+10C>T rs1057521575
NM_000093.4(COL5A1):c.219C>T (p.Val73=) rs774691915
NM_000093.4(COL5A1):c.2238C>T (p.Pro746=) rs373617798
NM_000093.4(COL5A1):c.2268C>T (p.Pro756=) rs367755808
NM_000093.4(COL5A1):c.2281C>T (p.Pro761Ser) rs140486644
NM_000093.4(COL5A1):c.2285C>T (p.Pro762Leu) rs138259992
NM_000093.4(COL5A1):c.2310T>A (p.Pro770=) rs377123592
NM_000093.4(COL5A1):c.231C>T (p.Val77=) rs767430471
NM_000093.4(COL5A1):c.2331+15C>T rs369093559
NM_000093.4(COL5A1):c.2331+16G>A rs199654385
NM_000093.4(COL5A1):c.2332-9T>G rs1554797620
NM_000093.4(COL5A1):c.2347_2348insT (p.Gln783Leufs) rs863223471
NM_000093.4(COL5A1):c.2354C>T (p.Pro785Leu) rs760539229
NM_000093.4(COL5A1):c.2385G>A (p.Lys795=) rs1554797638
NM_000093.4(COL5A1):c.2386-7C>T rs746845504
NM_000093.4(COL5A1):c.2386-9C>T rs1057523879
NM_000093.4(COL5A1):c.2391C>T (p.Ala797=) rs142347159
NM_000093.4(COL5A1):c.2398A>G (p.Ile800Val) rs146870918
NM_000093.4(COL5A1):c.240C>T (p.Asp80=) rs79724538
NM_000093.4(COL5A1):c.2415C>T (p.Gly805=) rs769239532
NM_000093.4(COL5A1):c.2424C>T (p.Gly808=) rs139343205
NM_000093.4(COL5A1):c.2430+20C>T rs3124932
NM_000093.4(COL5A1):c.2433T>C (p.Gly811=) rs1554798918
NM_000093.4(COL5A1):c.2439C>T (p.Asp813=) rs148648778
NM_000093.4(COL5A1):c.2482C>T (p.Arg828Trp) rs185912761
NM_000093.4(COL5A1):c.2483G>A (p.Arg828Gln) rs781317910
NM_000093.4(COL5A1):c.2484+6C>T rs576976549
NM_000093.4(COL5A1):c.2485-11C>T rs756350498
NM_000093.4(COL5A1):c.2485-18C>T rs757531928
NM_000093.4(COL5A1):c.2493C>T (p.Ile831=) rs199630108
NM_000093.4(COL5A1):c.2503G>A (p.Gly835Ser) rs927467876
NM_000093.4(COL5A1):c.2526T>C (p.Pro842=) rs763634004
NM_000093.4(COL5A1):c.252C>T (p.Ser84=) rs151293601
NM_000093.4(COL5A1):c.2544C>A (p.Arg848=) rs201556585
NM_000093.4(COL5A1):c.2555A>T (p.Asn852Ile) rs148146480
NM_000093.4(COL5A1):c.2564C>G (p.Pro855Arg) rs150539264
NM_000093.4(COL5A1):c.2580C>A (p.Pro860=) rs762553184
NM_000093.4(COL5A1):c.2588A>T (p.Glu863Val) rs139788610
NM_000093.4(COL5A1):c.2592+16C>G rs145429817
NM_000093.4(COL5A1):c.2592+17G>A rs750947144
NM_000093.4(COL5A1):c.2593-15T>C rs747677530
NM_000093.4(COL5A1):c.2593-3C>T rs199895142
NM_000093.4(COL5A1):c.2646+12C>T rs751662116
NM_000093.4(COL5A1):c.2646+14G>A rs200583777
NM_000093.4(COL5A1):c.2676C>T (p.Gly892=) rs143161140
NM_000093.4(COL5A1):c.2695G>A (p.Gly899Ser) rs149964491
NM_000093.4(COL5A1):c.2700+16C>T rs371771646
NM_000093.4(COL5A1):c.2701-12C>G rs751422216
NM_000093.4(COL5A1):c.2701-14T>C rs1554801400
NM_000093.4(COL5A1):c.2708C>T (p.Pro903Leu) rs780406577
NM_000093.4(COL5A1):c.2709T>C (p.Pro903=) rs749844592
NM_000093.4(COL5A1):c.2722C>T (p.Pro908Ser) rs144985214
NM_000093.4(COL5A1):c.2724G>A (p.Pro908=) rs41310207
NM_000093.4(COL5A1):c.2734C>T (p.Arg912Ter) rs863223478
NM_000093.4(COL5A1):c.273C>A (p.Tyr91Ter) rs1341789008
NM_000093.4(COL5A1):c.2745+15A>T rs79481146
NM_000093.4(COL5A1):c.2746-12C>G rs1554801436
NM_000093.4(COL5A1):c.2750C>T (p.Pro917Leu) rs375600865
NM_000093.4(COL5A1):c.2751G>A (p.Pro917=) rs200319017
NM_000093.4(COL5A1):c.2754G>A (p.Arg918=) rs776715400
NM_000093.4(COL5A1):c.277+20G>C rs772363522
NM_000093.4(COL5A1):c.277+6T>G rs201910803
NM_000093.4(COL5A1):c.278-4C>A rs1057522143
NM_000093.4(COL5A1):c.278C>T (p.Ala93Val) rs41306397
NM_000093.4(COL5A1):c.2799+11G>A rs377322092
NM_000093.4(COL5A1):c.2799+13C>A rs75668257
NM_000093.4(COL5A1):c.2799+4T>C rs75815945
NM_000093.4(COL5A1):c.279G>A (p.Ala93=) rs145090868
NM_000093.4(COL5A1):c.2800-18C>A rs73664144
NM_000093.4(COL5A1):c.2800-18C>T rs73664144
NM_000093.4(COL5A1):c.2817C>T (p.Asp939=) rs750716466
NM_000093.4(COL5A1):c.2818G>A (p.Gly940Ser) rs1131691874
NM_000093.4(COL5A1):c.2844+20G>A rs200916696
NM_000093.4(COL5A1):c.2845-17C>A rs368737278
NM_000093.4(COL5A1):c.2852A>G (p.Asn951Ser) rs61736966
NM_000093.4(COL5A1):c.2892C>T (p.Gly964=) rs78511105
NM_000093.4(COL5A1):c.2894C>T (p.Pro965Leu) rs376435205
NM_000093.4(COL5A1):c.2898+20C>T rs781174331
NM_000093.4(COL5A1):c.2899-13G>T rs761096695
NM_000093.4(COL5A1):c.292G>A (p.Glu98Lys) rs369126350
NM_000093.4(COL5A1):c.292G>T (p.Glu98Ter) rs369126350
NM_000093.4(COL5A1):c.2947G>A (p.Glu983Lys) rs146348246
NM_000093.4(COL5A1):c.2952+11A>T rs4240707
NM_000093.4(COL5A1):c.2983C>A (p.Pro995Thr) rs187022757
NM_000093.4(COL5A1):c.2983C>G (p.Pro995Ala) rs187022757
NM_000093.4(COL5A1):c.2989G>A (p.Gly997Ser) rs863223445
NM_000093.4(COL5A1):c.298T>G (p.Phe100Val) rs761639579
NM_000093.4(COL5A1):c.2991C>T (p.Gly997=) rs766208976
NM_000093.4(COL5A1):c.2997C>T (p.Val999=) rs201897490
NM_000093.4(COL5A1):c.3006+17C>T rs140528268
NM_000093.4(COL5A1):c.3007-18C>G rs775358866
NM_000093.4(COL5A1):c.3013A>G (p.Thr1005Ala) rs863223446
NM_000093.4(COL5A1):c.3023C>T (p.Thr1008Met) rs199735010
NM_000093.4(COL5A1):c.3054G>A (p.Gly1018=) rs369163868
NM_000093.4(COL5A1):c.3069C>T (p.Pro1023=) rs139070070
NM_000093.4(COL5A1):c.3069dup (p.Gly1024Argfs) rs863223473
NM_000093.4(COL5A1):c.3087G>A (p.Pro1029=) rs774035950
NM_000093.4(COL5A1):c.3110C>T (p.Thr1037Met) rs150487609
NM_000093.4(COL5A1):c.3114+10T>C rs1057523401
NM_000093.4(COL5A1):c.3114+12G>C rs528913410
NM_000093.4(COL5A1):c.3171T>C (p.Gly1057=) rs943030077
NM_000093.4(COL5A1):c.3184C>T (p.Arg1062Ter) rs387906606
NM_000093.4(COL5A1):c.3201A>G (p.Pro1067=) rs773094034
NM_000093.4(COL5A1):c.3203T>G (p.Val1068Gly) rs372109796
NM_000093.4(COL5A1):c.3204+3G>A rs202054108
NM_000093.4(COL5A1):c.3205-18C>G rs199557977
NM_000093.4(COL5A1):c.3231A>G (p.Glu1077=) rs376248130
NM_000093.4(COL5A1):c.3236C>T (p.Pro1079Leu) rs863223447
NM_000093.4(COL5A1):c.3247C>T (p.Pro1083Ser) rs370321707
NM_000093.4(COL5A1):c.3258G>A (p.Ala1086=) rs372844807
NM_000093.4(COL5A1):c.3259-8C>T rs146461106
NM_000093.4(COL5A1):c.3260G>C (p.Gly1087Ala) rs559882772
NM_000093.4(COL5A1):c.3276A>G (p.Arg1092=) rs1554803828
NM_000093.4(COL5A1):c.3291C>T (p.Ala1097=) rs371821655
NM_000093.4(COL5A1):c.3294T>C (p.Ala1098=) rs949276689
NM_000093.4(COL5A1):c.3303C>A (p.Ile1101=) rs760754491
NM_000093.4(COL5A1):c.3303C>T (p.Ile1101=) rs760754491
NM_000093.4(COL5A1):c.3341G>C (p.Gly1114Ala) rs926426117
NM_000093.4(COL5A1):c.3344C>T (p.Pro1115Leu) rs139039658
NM_000093.4(COL5A1):c.3345G>A (p.Pro1115=) rs764683617
NM_000093.4(COL5A1):c.3350G>C (p.Gly1117Ala) rs863223448
NM_000093.4(COL5A1):c.3361G>C (p.Ala1121Pro) rs863223449
NM_000093.4(COL5A1):c.3366+11C>T rs863223438
NM_000093.4(COL5A1):c.3366+18T>C rs751538872
NM_000093.4(COL5A1):c.3367-14_3367-12del rs750002182
NM_000093.4(COL5A1):c.3369C>T (p.Gly1123=) rs546229885
NM_000093.4(COL5A1):c.3397C>T (p.Arg1133Ter) rs886042045
NM_000093.4(COL5A1):c.3402C>T (p.Asp1134=) rs138251296
NM_000093.4(COL5A1):c.3403G>A (p.Gly1135Ser) rs775559638
NM_000093.4(COL5A1):c.3418G>A (p.Val1140Met) rs149616140
NM_000093.4(COL5A1):c.341C>A (p.Ala114Asp) rs147589613
NM_000093.4(COL5A1):c.3428C>T (p.Pro1143Leu) rs540131206
NM_000093.4(COL5A1):c.3441C>A (p.Gly1147=) rs755982747
NM_000093.4(COL5A1):c.3474+7C>T rs550497696
NM_000093.4(COL5A1):c.3528+14C>T rs371865645
NM_000093.4(COL5A1):c.3528+19G>T rs200672136
NM_000093.4(COL5A1):c.3529-5C>T rs755227263
NM_000093.4(COL5A1):c.3545C>T (p.Thr1182Ile) rs1057524867
NM_000093.4(COL5A1):c.3551C>T (p.Pro1184Leu) rs749093832
NM_000093.4(COL5A1):c.3564C>T (p.Ile1188=) rs766961124
NM_000093.4(COL5A1):c.3573A>G (p.Pro1191=) rs564398230
NM_000093.4(COL5A1):c.3582+4A>C rs1064796967
NM_000093.4(COL5A1):c.3591C>T (p.Asp1197=) rs370349155
NM_000093.4(COL5A1):c.3622C>T (p.Leu1208Phe) rs863223450
NM_000093.4(COL5A1):c.363C>T (p.Asn121=) rs369180922
NM_000093.4(COL5A1):c.367C>G (p.Gln123Glu) rs142114921
NM_000093.4(COL5A1):c.3690+6T>A rs375998368
NM_000093.4(COL5A1):c.3691-9T>C rs187584029
NM_000093.4(COL5A1):c.36G>C (p.Ala12=) rs1029930975
NM_000093.4(COL5A1):c.3726_3732delAGGAGAC (p.Gly1243Trpfs) rs1554805076
NM_000093.4(COL5A1):c.3744+19C>T rs200498760
NM_000093.4(COL5A1):c.3745-18G>A rs45556931
NM_000093.4(COL5A1):c.3750C>G (p.Pro1250=) rs192806271
NM_000093.4(COL5A1):c.3752dup (p.Pro1253Serfs) rs786205100
NM_000093.4(COL5A1):c.3764G>A (p.Gly1255Asp) rs1064796975
NM_000093.4(COL5A1):c.3770G>A (p.Arg1257Gln) rs141768094
NM_000093.4(COL5A1):c.3788C>T (p.Pro1263Leu) rs140244245
NM_000093.4(COL5A1):c.378G>T (p.Gln126His) rs145178917
NM_000093.4(COL5A1):c.37C>T (p.Leu13Phe) rs762625123
NM_000093.4(COL5A1):c.3815C>A (p.Pro1272Gln) rs369684394
NM_000093.4(COL5A1):c.3815C>T (p.Pro1272Leu) rs369684394
NM_000093.4(COL5A1):c.383T>C (p.Ile128Thr) rs863223464
NM_000093.4(COL5A1):c.3855C>T (p.Gly1285=) rs139544503
NM_000093.4(COL5A1):c.3868G>A (p.Ala1290Thr) rs863223451
NM_000093.4(COL5A1):c.3888G>A (p.Pro1296=) rs375631252
NM_000093.4(COL5A1):c.3900C>T (p.Gly1300=) rs879205988
NM_000093.4(COL5A1):c.3905C>T (p.Pro1302Leu) rs201920777
NM_000093.4(COL5A1):c.3906+10C>T rs183881247
NM_000093.4(COL5A1):c.3906+14C>T rs377136680
NM_000093.4(COL5A1):c.3906+15G>A rs370937109
NM_000093.4(COL5A1):c.3906+15G>C rs370937109
NM_000093.4(COL5A1):c.3906+19C>T rs571788196
NM_000093.4(COL5A1):c.3906+20G>A rs148053413
NM_000093.4(COL5A1):c.3906+3G>T rs786200922
NM_000093.4(COL5A1):c.3912C>T (p.Pro1304=) rs773909152
NM_000093.4(COL5A1):c.3936C>T (p.Gly1312=) rs367804791
NM_000093.4(COL5A1):c.3960C>T (p.Ala1320=) rs1057524173
NM_000093.4(COL5A1):c.3983C>G (p.Pro1328Arg) rs140797509
NM_000093.4(COL5A1):c.4014+7A>G rs1554805661
NM_000093.4(COL5A1):c.4015-19C>T rs527971001
NM_000093.4(COL5A1):c.4020A>G (p.Pro1340=) rs776564144
NM_000093.4(COL5A1):c.4048C>G (p.Pro1350Ala) rs762699995
NM_000093.4(COL5A1):c.4065C>T (p.Pro1355=) rs61737906
NM_000093.4(COL5A1):c.4066G>A (p.Ala1356Thr) rs147868179
NM_000093.4(COL5A1):c.4067C>T (p.Ala1356Val) rs766796504
NM_000093.4(COL5A1):c.4068+17G>A rs1554805806
NM_000093.4(COL5A1):c.4068+7G>A rs587780905
NM_000093.4(COL5A1):c.4068G>A (p.Ala1356=) rs863223452
NM_000093.4(COL5A1):c.408C>T (p.Pro136=) rs376435758
NM_000093.4(COL5A1):c.409G>A (p.Val137Ile) rs145757313
NM_000093.4(COL5A1):c.4121C>T (p.Thr1374Met) rs151115748
NM_000093.4(COL5A1):c.4122G>A (p.Thr1374=) rs3827848
NM_000093.4(COL5A1):c.4123-10C>T rs1057524402
NM_000093.4(COL5A1):c.4126dup (p.Ser1376Phefs) rs1131691820
NM_000093.4(COL5A1):c.4135C>T (p.Pro1379Ser) rs61739195
NM_000093.4(COL5A1):c.4139C>A (p.Thr1380Asn) rs863223439
NM_000093.4(COL5A1):c.4162C>T (p.Pro1388Ser) rs61737942
NM_000093.4(COL5A1):c.4172A>G (p.Lys1391Arg) rs201801000
NM_000093.4(COL5A1):c.4175G>A (p.Arg1392Lys) rs863223479
NM_000093.4(COL5A1):c.4176+3A>T rs1554806134
NM_000093.4(COL5A1):c.4176+9T>G rs10858282
NM_000093.4(COL5A1):c.4197C>T (p.Gly1399=) rs1397888531
NM_000093.4(COL5A1):c.420C>T (p.Tyr140=) rs540553997
NM_000093.4(COL5A1):c.4230+5C>T rs142248898
NM_000093.4(COL5A1):c.4230+6G>A rs77176843
NM_000093.4(COL5A1):c.4230G>C (p.Lys1410Asn) rs863223453
NM_000093.4(COL5A1):c.4231-12G>A rs188473199
NM_000093.4(COL5A1):c.4231-16C>T rs1057522679
NM_000093.4(COL5A1):c.4240G>A (p.Gly1414Ser) rs776709663
NM_000093.4(COL5A1):c.4241G>C (p.Gly1414Ala) rs556167410
NM_000093.4(COL5A1):c.427C>A (p.His143Asn) rs863223465
NM_000093.4(COL5A1):c.4282C>T (p.Gln1428Ter) rs863223454
NM_000093.4(COL5A1):c.4287G>C (p.Gly1429=) rs936839849
NM_000093.4(COL5A1):c.4288G>A (p.Ala1430Thr) rs863223455
NM_000093.4(COL5A1):c.42C>T (p.Arg14=) rs1554772576
NM_000093.4(COL5A1):c.4302C>T (p.Pro1434=) rs755495352
NM_000093.4(COL5A1):c.4307C>T (p.Pro1436Leu) rs752334702
NM_000093.4(COL5A1):c.4308G>A (p.Pro1436=) rs200073020
NM_000093.4(COL5A1):c.431C>T (p.Thr144Met) rs561761305
NM_000093.4(COL5A1):c.431_432delCGinsAT (p.Thr144Asn) rs864622040
NM_000093.4(COL5A1):c.4338+18G>C rs781247782
NM_000093.4(COL5A1):c.4370C>T (p.Pro1457Leu) rs201875250
NM_000093.4(COL5A1):c.4374C>T (p.Asp1458=) rs201335857
NM_000093.4(COL5A1):c.4378C>A (p.Pro1460Thr) rs773125713
NM_000093.4(COL5A1):c.4383C>T (p.Pro1461=) rs368551709
NM_000093.4(COL5A1):c.4386C>T (p.Gly1462=) rs759256816
NM_000093.4(COL5A1):c.4392+4A>C rs863223456
NM_000093.4(COL5A1):c.4393-17C>T rs141152269
NM_000093.4(COL5A1):c.4393-19C>T rs186732287
NM_000093.4(COL5A1):c.4393-7C>T rs947083271
NM_000093.4(COL5A1):c.4393-9C>T rs11792181
NM_000093.4(COL5A1):c.4402G>A (p.Gly1468Arg) rs1554806670
NM_000093.4(COL5A1):c.4410C>T (p.Pro1470=) rs41310953
NM_000093.4(COL5A1):c.458C>T (p.Pro153Leu) rs771925785
NM_000093.4(COL5A1):c.467G>A (p.Arg156Gln) rs770896795
NM_000093.4(COL5A1):c.497A>G (p.His166Arg) rs1057524357
NM_000093.4(COL5A1):c.513C>T (p.Ser171=) rs754997436
NM_000093.4(COL5A1):c.514G>A (p.Val172Ile) rs150147262
NM_000093.4(COL5A1):c.514G>T (p.Val172Phe) rs150147262
NM_000093.4(COL5A1):c.526A>C (p.Asn176His) rs369396868
NM_000093.4(COL5A1):c.528T>C (p.Asn176=) rs769674770
NM_000093.4(COL5A1):c.52C>T (p.Pro18Ser) rs1060502260
NM_000093.4(COL5A1):c.534C>T (p.Thr178=) rs1554781685
NM_000093.4(COL5A1):c.573C>T (p.Leu191=) rs116715381
NM_000093.4(COL5A1):c.574G>A (p.Asp192Asn) rs138579182
NM_000093.4(COL5A1):c.597C>G (p.Ile199Met) rs147008954
NM_000093.4(COL5A1):c.597C>T (p.Ile199=) rs147008954
NM_000093.4(COL5A1):c.598G>A (p.Asp200Asn) rs142890619
NM_000093.4(COL5A1):c.615C>A (p.Ile205=) rs201286195
NM_000093.4(COL5A1):c.61C>T (p.Pro21Ser) rs548525119
NM_000093.4(COL5A1):c.655-16G>A rs371301230
NM_000093.4(COL5A1):c.65C>A (p.Pro22Gln) rs863223467
NM_000093.4(COL5A1):c.65C>G (p.Pro22Arg) rs863223467
NM_000093.4(COL5A1):c.6C>G (p.Asp2Glu) rs1064796482
NM_000093.4(COL5A1):c.727G>A (p.Asp243Asn) rs758431206
NM_000093.4(COL5A1):c.732_733delTG (p.Cys244Terfs) rs1554787557
NM_000093.4(COL5A1):c.738C>T (p.Thr246=) rs3124299
NM_000093.4(COL5A1):c.739G>A (p.Ala247Thr) rs769115550
NM_000093.4(COL5A1):c.753C>T (p.Thr251=) rs374813957
NM_000093.4(COL5A1):c.754C>T (p.Pro252Ser) rs369781295
NM_000093.4(COL5A1):c.761C>T (p.Ser254Leu) rs144844792
NM_000093.4(COL5A1):c.787-15G>A rs150200872
NM_000093.4(COL5A1):c.790A>C (p.Thr264Pro) rs863223440
NM_000093.4(COL5A1):c.802G>A (p.Gly268Ser) rs748603743
NM_000093.4(COL5A1):c.804C>T (p.Gly268=) rs147729713
NM_000093.4(COL5A1):c.805G>A (p.Glu269Lys) rs761079177
NM_000093.4(COL5A1):c.82_84dupCTG (p.Leu28_Trp29insLeu) rs773994971
NM_000093.4(COL5A1):c.904G>T (p.Glu302Ter) rs1554787811
NM_000093.4(COL5A1):c.924+13C>T rs199836060
NM_000093.4(COL5A1):c.924+14G>A rs200595318
NM_000093.4(COL5A1):c.934C>G (p.Pro312Ala) rs140105243
NM_000093.4(COL5A1):c.944C>T (p.Thr315Met) rs145093766
NM_000093.4(COL5A1):c.962C>T (p.Pro321Leu) rs1085307805
NM_000093.4(COL5A1):c.977G>A (p.Gly326Glu) rs748152732
NM_000093.4(COL5A1):c.996C>T (p.Asp332=) rs144763302
NM_000093.4(COL5A1):c.9C>A (p.Val3=) rs1554772559

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