ClinVar Miner

List of variants in gene COL5A1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1022
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HGVS dbSNP
GRCh37/hg19 9q34.3(chr9:137496881-137648441)
GRCh37/hg19 9q34.3(chr9:137648314-137664433)x1
GRCh37/hg19 9q34.3(chr9:137721555-137730384)x1
GRCh38/hg38 9q34.3(chr9:134543703-134725867)x1
NC_000009.11:g.(?_137533651)_(137534142_?)dup
NC_000009.11:g.(?_137534024)_(137660319_?)del
NC_000009.11:g.(?_137582738)_(137582945_?)del
NC_000009.11:g.(?_137582738)_(137593199_?)dup
NC_000009.11:g.(?_137582738)_(137655603_?)del
NC_000009.11:g.(?_137582748)_(137619253_?)del
NC_000009.11:g.(?_137591735)_(137591988_?)del
NC_000009.11:g.(?_137619092)_(137620673_?)del
NC_000009.11:g.(?_137644415)_(137644511_?)del
NC_000009.11:g.137703445A>C
NC_000009.12:g.134641788C>G
NC_000009.12:g.134728628C>T
NC_000009.12:g.134730187A>G
NC_000009.12:g.134730193G>A
NC_000009.12:g.134731709T>C
NC_000009.12:g.134738722C>T
NC_000009.12:g.134753802T>C
NC_000009.12:g.134753816C>T
NC_000009.12:g.134763761C>T
NC_000009.12:g.134767390C>T
NC_000009.12:g.134785950G>A
NC_000009.12:g.134795060C>T
NC_000009.12:g.134796356dup
NC_000009.12:g.134796811A>G
NC_000009.12:g.134820071G>A
NC_000009.12:g.134825764T>C
NC_000009.12:g.134829854del
NM_000093.4(COL5A1):c.-110A>G rs180741151
NM_000093.4(COL5A1):c.-139G>T rs886063672
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.-247T>G rs71483234
NM_000093.4(COL5A1):c.-261_-259dupAGG rs886063671
NM_000093.4(COL5A1):c.-287G>C rs886063670
NM_000093.4(COL5A1):c.-28_-7del rs1554772545
NM_000093.4(COL5A1):c.-33G>T rs1057523091
NM_000093.4(COL5A1):c.-357G>T rs886063669
NM_000093.4(COL5A1):c.-364G>C rs780212970
NM_000093.4(COL5A1):c.-37G>A rs374979485
NM_000093.4(COL5A1):c.-382C>G rs555826102
NM_000093.4(COL5A1):c.-4C>G rs769694875
NM_000093.4(COL5A1):c.1021G>A (p.Val341Met) rs756703956
NM_000093.4(COL5A1):c.1024C>T (p.Pro342Ser) rs886039023
NM_000093.4(COL5A1):c.1044G>A (p.Thr348=) rs1246095864
NM_000093.4(COL5A1):c.1044G>T (p.Thr348=) rs1246095864
NM_000093.4(COL5A1):c.1048T>C (p.Ser350Pro)
NM_000093.4(COL5A1):c.1052C>A (p.Pro351Gln)
NM_000093.4(COL5A1):c.1053G>A (p.Pro351=) rs370018361
NM_000093.4(COL5A1):c.1062C>T (p.Asp354=) rs61737708
NM_000093.4(COL5A1):c.1075G>A (p.Glu359Lys)
NM_000093.4(COL5A1):c.1075G>T (p.Glu359Ter) rs769752636
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.109+296A>G
NM_000093.4(COL5A1):c.109+37G>A
NM_000093.4(COL5A1):c.1092C>T (p.Pro364=) rs41306391
NM_000093.4(COL5A1):c.110-10G>A rs746555918
NM_000093.4(COL5A1):c.110-178G>A
NM_000093.4(COL5A1):c.110-19T>C rs148294644
NM_000093.4(COL5A1):c.110-271C>T
NM_000093.4(COL5A1):c.110-34C>T rs72772548
NM_000093.4(COL5A1):c.110-3C>G rs1554780148
NM_000093.4(COL5A1):c.1105G>C (p.Asp369His) rs777935807
NM_000093.4(COL5A1):c.1114G>A (p.Ala372Thr)
NM_000093.4(COL5A1):c.1119G>A (p.Gly373=) rs1060504528
NM_000093.4(COL5A1):c.1120G>A (p.Ala374Thr)
NM_000093.4(COL5A1):c.1140C>T (p.Thr380=) rs749315207
NM_000093.4(COL5A1):c.1143C>T (p.Ala381=) rs200245996
NM_000093.4(COL5A1):c.1144G>A (p.Asp382Asn)
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.1164+134A>C
NM_000093.4(COL5A1):c.1164+87T>A
NM_000093.4(COL5A1):c.1164+94C>T
NM_000093.4(COL5A1):c.1165-149C>T
NM_000093.4(COL5A1):c.1165-39G>A
NM_000093.4(COL5A1):c.1165-8C>T rs770303209
NM_000093.4(COL5A1):c.1175C>T (p.Pro392Leu) rs1290737803
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.1207G>T (p.Glu403Ter) rs886043641
NM_000093.4(COL5A1):c.1209G>T (p.Glu403Asp) rs1564417691
NM_000093.4(COL5A1):c.1210T>C (p.Phe404Leu) rs1052185173
NM_000093.4(COL5A1):c.1222A>G (p.Thr408Ala)
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.1228C>T (p.Arg410Trp)
NM_000093.4(COL5A1):c.1229G>A (p.Arg410Gln) rs769244075
NM_000093.4(COL5A1):c.1239C>G (p.Asp413Glu)
NM_000093.4(COL5A1):c.1240G>A (p.Glu414Lys)
NM_000093.4(COL5A1):c.1246_1257TACTACGACCCC[1] (p.416_419YYDP[1]) rs745934765
NM_000093.4(COL5A1):c.1246_1257TACTACGACCCC[3] (p.416_419YYDP[3])
NM_000093.4(COL5A1):c.1263C>T (p.Tyr421=) rs373846823
NM_000093.4(COL5A1):c.1264G>C (p.Asp422His) rs760798318
NM_000093.4(COL5A1):c.126C>T (p.Leu42=) rs149369116
NM_000093.4(COL5A1):c.126_128del (p.Leu43del) rs1564390373
NM_000093.4(COL5A1):c.1270A>G (p.Thr424Ala) rs535363331
NM_000093.4(COL5A1):c.1271C>G (p.Thr424Ser) rs752619850
NM_000093.4(COL5A1):c.1280C>T (p.Pro427Leu) rs751337133
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.1291G>A (p.Gly431Arg) rs962170388
NM_000093.4(COL5A1):c.1292G>A (p.Gly431Glu)
NM_000093.4(COL5A1):c.1293G>T (p.Gly431=) rs373460629
NM_000093.4(COL5A1):c.1295C>T (p.Pro432Leu) rs140943202
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.1304C>T (p.Pro435Leu) rs772379819
NM_000093.4(COL5A1):c.1307C>T (p.Ala436Val) rs144269434
NM_000093.4(COL5A1):c.1308G>A (p.Ala436=) rs200959477
NM_000093.4(COL5A1):c.1316A>T (p.Asp439Val) rs1060502244
NM_000093.4(COL5A1):c.1332+1G>T rs1064796684
NM_000093.4(COL5A1):c.1332+20C>T rs935688642
NM_000093.4(COL5A1):c.1332+25C>T rs56385965
NM_000093.4(COL5A1):c.1332+46T>C rs3109675
NM_000093.4(COL5A1):c.1332+4dupA rs886063674
NM_000093.4(COL5A1):c.1332+92C>G rs3124310
NM_000093.4(COL5A1):c.1333-3dup rs773903401
NM_000093.4(COL5A1):c.1333-6_1333-5insAGATTGTC
NM_000093.4(COL5A1):c.1333-8A>G rs145620416
NM_000093.4(COL5A1):c.1340G>A (p.Gly447Glu)
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.1352A>T (p.Glu451Val) rs1060502243
NM_000093.4(COL5A1):c.1364del (p.Lys455fs) rs1564418237
NM_000093.4(COL5A1):c.1368A>G (p.Gly456=) rs1554788483
NM_000093.4(COL5A1):c.1383C>G (p.Ile461Met)
NM_000093.4(COL5A1):c.1383C>T (p.Ile461=) rs61736827
NM_000093.4(COL5A1):c.1384G>C (p.Glu462Gln)
NM_000093.4(COL5A1):c.1388C>T (p.Pro463Leu) rs201375465
NM_000093.4(COL5A1):c.1389+139G>A
NM_000093.4(COL5A1):c.1389+7A>T rs1281999280
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.1390-259G>A
NM_000093.4(COL5A1):c.1390-277C>T
NM_000093.4(COL5A1):c.1390-305C>T
NM_000093.4(COL5A1):c.1390-4C>T rs1382134438
NM_000093.4(COL5A1):c.1401C>T (p.Ile467=) rs1452745305
NM_000093.4(COL5A1):c.1402G>A (p.Glu468Lys) rs754948598
NM_000093.4(COL5A1):c.1410G>A (p.Pro470=) rs148389741
NM_000093.4(COL5A1):c.1410G>C (p.Pro470=) rs148389741
NM_000093.4(COL5A1):c.1429G>A (p.Ala477Thr) rs774936702
NM_000093.4(COL5A1):c.1430C>T (p.Ala477Val) rs763650548
NM_000093.4(COL5A1):c.1431+10C>T rs1176378428
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.1432-24C>T rs3109677
NM_000093.4(COL5A1):c.1432-5T>C rs3128612
NM_000093.4(COL5A1):c.1440C>T (p.Pro480=) rs150940930
NM_000093.4(COL5A1):c.1442G>T (p.Gly481Val)
NM_000093.4(COL5A1):c.145C>T (p.His49Tyr) rs372168541
NM_000093.4(COL5A1):c.1462C>T (p.Pro488Ser) rs1238395732
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.1496G>C (p.Gly499Ala) rs1554792005
NM_000093.4(COL5A1):c.149A>G (p.Asn50Ser) rs79138021
NM_000093.4(COL5A1):c.1502del (p.Pro501fs) rs1085307855
NM_000093.4(COL5A1):c.1503del (p.Gly502fs) rs1554792011
NM_000093.4(COL5A1):c.1507C>T (p.Arg503Cys) rs781485753
NM_000093.4(COL5A1):c.1508G>A (p.Arg503His)
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.1540G>A (p.Gly514Ser) rs878853652
NM_000093.4(COL5A1):c.1556T>C (p.Met519Thr) rs202069285
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.1569+3G>A rs886038232
NM_000093.4(COL5A1):c.1569+6T>C
NM_000093.4(COL5A1):c.1570-59T>C rs12686426
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.1591G>A (p.Asp531Asn)
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.1638G>A (p.Ala546=) rs775508023
NM_000093.4(COL5A1):c.1662+252G>A
NM_000093.4(COL5A1):c.1663-1G>C rs794727114
NM_000093.4(COL5A1):c.1668A>G (p.Ala556=) rs750022273
NM_000093.4(COL5A1):c.1674G>A (p.Arg558=) rs746502968
NM_000093.4(COL5A1):c.1688C>T (p.Pro563Leu) rs753260027
NM_000093.4(COL5A1):c.1701A>C (p.Thr567=) rs143647239
NM_000093.4(COL5A1):c.170A>G (p.Lys57Arg) rs1131691360
NM_000093.4(COL5A1):c.1719+10T>C rs202231659
NM_000093.4(COL5A1):c.1719+8A>T rs747192480
NM_000093.4(COL5A1):c.1720-111G>A
NM_000093.4(COL5A1):c.1720-11T>A rs863223444
NM_000093.4(COL5A1):c.1720-136_1929del
NM_000093.4(COL5A1):c.1720-157C>T
NM_000093.4(COL5A1):c.1720-158C>G
NM_000093.4(COL5A1):c.1720-34C>T rs73558067
NM_000093.4(COL5A1):c.1720-3T>C rs960627780
NM_000093.4(COL5A1):c.1720-47C>T rs79679217
NM_000093.4(COL5A1):c.1720-48T>C rs10123014
NM_000093.4(COL5A1):c.1726C>T (p.Pro576Ser) rs763246328
NM_000093.4(COL5A1):c.1734C>T (p.Ser578=) rs148094039
NM_000093.4(COL5A1):c.1752G>A (p.Glu584=) rs376865199
NM_000093.4(COL5A1):c.1754C>T (p.Pro585Leu) rs530442560
NM_000093.4(COL5A1):c.1773+130C>T
NM_000093.4(COL5A1):c.1774-16C>T rs755041858
NM_000093.4(COL5A1):c.1774-73A>G
NM_000093.4(COL5A1):c.1774-7C>A rs371941850
NM_000093.4(COL5A1):c.1780C>T (p.Arg594Ter) rs1554792869
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.1797G>A (p.Pro599=) rs201463583
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.1816C>T (p.Pro606Ser)
NM_000093.4(COL5A1):c.1818C>T (p.Pro606=) rs761257919
NM_000093.4(COL5A1):c.1827+11C>T rs374795810
NM_000093.4(COL5A1):c.1827+16G>A rs745897562
NM_000093.4(COL5A1):c.1827+295A>G
NM_000093.4(COL5A1):c.1827+45G>A rs11103502
NM_000093.4(COL5A1):c.1827+94G>T
NM_000093.4(COL5A1):c.1828-170C>T
NM_000093.4(COL5A1):c.1828-297T>C
NM_000093.4(COL5A1):c.1830T>C (p.Gly610=) rs886063675
NM_000093.4(COL5A1):c.1831C>T (p.Arg611Trp) rs147329970
NM_000093.4(COL5A1):c.1832G>A (p.Arg611Gln)
NM_000093.4(COL5A1):c.1840A>C (p.Ser614Arg) rs863223477
NM_000093.4(COL5A1):c.1850C>T (p.Ala617Val)
NM_000093.4(COL5A1):c.186C>T (p.Cys62=) rs778516121
NM_000093.4(COL5A1):c.1881+13C>T rs753635328
NM_000093.4(COL5A1):c.1881+173G>A
NM_000093.4(COL5A1):c.1881+292G>A
NM_000093.4(COL5A1):c.1882-133A>G
NM_000093.4(COL5A1):c.1882-256C>T
NM_000093.4(COL5A1):c.1882-272C>T
NM_000093.4(COL5A1):c.1882-5delT rs1554793544
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.1899C>T (p.Asp633=) rs757951119
NM_000093.4(COL5A1):c.1900G>A (p.Gly634Ser) rs183627101
NM_000093.4(COL5A1):c.191C>T (p.Thr64Met) rs777376620
NM_000093.4(COL5A1):c.1920C>T (p.Gly640=) rs781663334
NM_000093.4(COL5A1):c.1923G>T (p.Glu641Asp)
NM_000093.4(COL5A1):c.1926G>T (p.Lys642Asn) rs918992441
NM_000093.4(COL5A1):c.1935+127G>C
NM_000093.4(COL5A1):c.1935+12C>T rs368245632
NM_000093.4(COL5A1):c.1935+133A>T
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.1936-170G>A
NM_000093.4(COL5A1):c.1936-21G>A rs77716946
NM_000093.4(COL5A1):c.1936-299C>T
NM_000093.4(COL5A1):c.1936-35C>A rs10858278
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.197G>C (p.Arg66Pro)
NM_000093.4(COL5A1):c.1989+279T>C
NM_000093.4(COL5A1):c.1989G>C (p.Arg663Ser) rs774093862
NM_000093.4(COL5A1):c.1990-219G>A
NM_000093.4(COL5A1):c.1998C>T (p.Asp666=) rs143858735
NM_000093.4(COL5A1):c.2022G>C (p.Leu674=) rs552160454
NM_000093.4(COL5A1):c.202T>C (p.Ser68Pro) rs1554780172
NM_000093.4(COL5A1):c.2030A>T (p.Glu677Val) rs1564443811
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.2034+1G>A rs886042173
NM_000093.4(COL5A1):c.2034+24C>T rs41298367
NM_000093.4(COL5A1):c.2034+256C>T
NM_000093.4(COL5A1):c.2038C>T (p.Pro680Ser) rs376920171
NM_000093.4(COL5A1):c.2042G>A (p.Arg681His)
NM_000093.4(COL5A1):c.2044G>A (p.Gly682Ser)
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.2065C>T (p.Pro689Ser) rs943838033
NM_000093.4(COL5A1):c.2070A>G (p.Pro690=) rs1060504527
NM_000093.4(COL5A1):c.2079C>T (p.Pro693=) rs186098435
NM_000093.4(COL5A1):c.2088+227G>A
NM_000093.4(COL5A1):c.2088C>T (p.Pro696=) rs146757272
NM_000093.4(COL5A1):c.2089-288C>T
NM_000093.4(COL5A1):c.2089-8G>A rs368595229
NM_000093.4(COL5A1):c.2089-9C>T rs181246690
NM_000093.4(COL5A1):c.2092_2093delinsCA (p.Val698His) rs1554796087
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.212C>T (p.Pro71Leu) rs779540528
NM_000093.4(COL5A1):c.2133+73G>A
NM_000093.4(COL5A1):c.2134-116T>C
NM_000093.4(COL5A1):c.2134-11G>C rs369317619
NM_000093.4(COL5A1):c.2134-238A>G
NM_000093.4(COL5A1):c.2140C>T (p.Gln714Ter) rs1554796176
NM_000093.4(COL5A1):c.2143G>T (p.Gly715Ter) rs1060502258
NM_000093.4(COL5A1):c.2155C>T (p.Pro719Ser) rs1564446104
NM_000093.4(COL5A1):c.2159dup (p.Gly721fs) rs863223469
NM_000093.4(COL5A1):c.2162dup (p.Gln722fs) rs863223470
NM_000093.4(COL5A1):c.2164C>T (p.Gln722Ter) rs1564446117
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.2181C>T (p.Gly727=)
NM_000093.4(COL5A1):c.2182G>A (p.Ala728Thr) rs575535171
NM_000093.4(COL5A1):c.2184C>A (p.Ala728=) rs150993138
NM_000093.4(COL5A1):c.2187+101C>T
NM_000093.4(COL5A1):c.2187+10C>T rs1057521575
NM_000093.4(COL5A1):c.2187+4A>G
NM_000093.4(COL5A1):c.2196A>G (p.Pro732=)
NM_000093.4(COL5A1):c.219C>T (p.Val73=) rs774691915
NM_000093.4(COL5A1):c.2203dup (p.Gln735fs) rs1057519596
NM_000093.4(COL5A1):c.2222C>T (p.Pro741Leu) rs1422097890
NM_000093.4(COL5A1):c.2232+36C>T rs45622539
NM_000093.4(COL5A1):c.2232+4G>C rs1060502257
NM_000093.4(COL5A1):c.2233-62G>T
NM_000093.4(COL5A1):c.2238C>T (p.Pro746=) rs373617798
NM_000093.4(COL5A1):c.2253C>T (p.Gly751=)
NM_000093.4(COL5A1):c.2268C>T (p.Pro756=) rs367755808
NM_000093.4(COL5A1):c.2269G>A (p.Gly757Ser) rs1464394247
NM_000093.4(COL5A1):c.226_227AG[1] (p.Arg76fs) rs1060502242
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.2286+146T>C
NM_000093.4(COL5A1):c.2286+223G>C
NM_000093.4(COL5A1):c.2286+66A>G
NM_000093.4(COL5A1):c.2287-180G>A
NM_000093.4(COL5A1):c.2287-260T>G
NM_000093.4(COL5A1):c.2310T>A (p.Pro770=) rs377123592
NM_000093.4(COL5A1):c.2312C>G (p.Pro771Arg) rs1554797269
NM_000093.4(COL5A1):c.2318A>T (p.Glu773Val)
NM_000093.4(COL5A1):c.231C>T (p.Val77=) rs767430471
NM_000093.4(COL5A1):c.2321A>C (p.Lys774Thr) rs1564449370
NM_000093.4(COL5A1):c.2331+11G>A
NM_000093.4(COL5A1):c.2331+15C>T rs369093559
NM_000093.4(COL5A1):c.2331+16G>A rs199654385
NM_000093.4(COL5A1):c.2331+191G>C
NM_000093.4(COL5A1):c.2331+4G>C
NM_000093.4(COL5A1):c.2331G>A (p.Gln777=)
NM_000093.4(COL5A1):c.2332-177G>A
NM_000093.4(COL5A1):c.2332-20C>T
NM_000093.4(COL5A1):c.2332-291G>A
NM_000093.4(COL5A1):c.2332-9T>G rs1554797620
NM_000093.4(COL5A1):c.233C>T (p.Thr78Ile) rs555131723
NM_000093.4(COL5A1):c.2347_2348insT (p.Gln783fs) rs863223471
NM_000093.4(COL5A1):c.2354C>T (p.Pro785Leu) rs760539229
NM_000093.4(COL5A1):c.2374C>T (p.Arg792Ter) rs121912933
NM_000093.4(COL5A1):c.2382C>T (p.Val794=) rs758190171
NM_000093.4(COL5A1):c.2385+15C>T
NM_000093.4(COL5A1):c.2385+250G>T
NM_000093.4(COL5A1):c.2385G>A (p.Lys795=) rs1554797638
NM_000093.4(COL5A1):c.2386-3C>G rs1564453831
NM_000093.4(COL5A1):c.2386-6G>A rs373383768
NM_000093.4(COL5A1):c.2386-7C>T rs746845504
NM_000093.4(COL5A1):c.2386-8C>A
NM_000093.4(COL5A1):c.2386-9C>T rs1057523879
NM_000093.4(COL5A1):c.2389delG rs1564453833
NM_000093.4(COL5A1):c.2390C>T (p.Ala797Val)
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.2425G>A (p.Glu809Lys) rs1032017865
NM_000093.4(COL5A1):c.2425G>T (p.Glu809Ter)
NM_000093.4(COL5A1):c.2430+196C>T
NM_000093.4(COL5A1):c.2430+1G>A rs1060502248
NM_000093.4(COL5A1):c.2430+20C>T rs3124932
NM_000093.4(COL5A1):c.2430+290A>G
NM_000093.4(COL5A1):c.2430+4A>C
NM_000093.4(COL5A1):c.2431-25G>A rs41310213
NM_000093.4(COL5A1):c.2431-289C>G
NM_000093.4(COL5A1):c.2431-295_2431-294del
NM_000093.4(COL5A1):c.2431-57C>T
NM_000093.4(COL5A1):c.2431-7T>C rs1060504531
NM_000093.4(COL5A1):c.2433T>C (p.Gly811=) rs1554798918
NM_000093.4(COL5A1):c.2434G>A (p.Glu812Lys) rs1554798924
NM_000093.4(COL5A1):c.2439C>T (p.Asp813=) rs148648778
NM_000093.4(COL5A1):c.2451G>T (p.Gly817=) rs1554798928
NM_000093.4(COL5A1):c.2464A>G (p.Met822Val) rs1060502262
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+118G>A
NM_000093.4(COL5A1):c.2484+14G>A
NM_000093.4(COL5A1):c.2484+1G>T rs1564455577
NM_000093.4(COL5A1):c.2484+6C>T rs576976549
NM_000093.4(COL5A1):c.2485-11C>T rs756350498
NM_000093.4(COL5A1):c.2485-146T>C
NM_000093.4(COL5A1):c.2485-147G>C
NM_000093.4(COL5A1):c.2485-160C>T
NM_000093.4(COL5A1):c.2485-183T>A
NM_000093.4(COL5A1):c.2485-18C>T rs757531928
NM_000093.4(COL5A1):c.2485-191C>A
NM_000093.4(COL5A1):c.2485-199G>A
NM_000093.4(COL5A1):c.2485-201C>T
NM_000093.4(COL5A1):c.2485-34_2485-33insGGCA
NM_000093.4(COL5A1):c.2485-39_2485-38insT
NM_000093.4(COL5A1):c.2485-39_2485-38insTGT
NM_000093.4(COL5A1):c.2485-90T>C
NM_000093.4(COL5A1):c.2493C>T (p.Ile831=) rs199630108
NM_000093.4(COL5A1):c.2497C>T (p.Pro833Ser) rs370547479
NM_000093.4(COL5A1):c.2503G>A (p.Gly835Ser) rs927467876
NM_000093.4(COL5A1):c.2504G>C (p.Gly835Ala) rs1554799402
NM_000093.4(COL5A1):c.2518G>C (p.Asp840His) rs1564457054
NM_000093.4(COL5A1):c.2524C>A (p.Pro842Thr)
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.2538G>A (p.Lys846=) rs751065864
NM_000093.4(COL5A1):c.2542C>T (p.Arg848Cys) rs762336160
NM_000093.4(COL5A1):c.2543G>A (p.Arg848His) rs767925708
NM_000093.4(COL5A1):c.2544C>A (p.Arg848=) rs201556585
NM_000093.4(COL5A1):c.2555A>G (p.Asn852Ser) rs148146480
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.2565del (p.Gly856fs) rs1564457102
NM_000093.4(COL5A1):c.256C>T (p.Pro86Ser) rs1277995091
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+16C>T rs145429817
NM_000093.4(COL5A1):c.2592+17G>A rs750947144
NM_000093.4(COL5A1):c.2592+209T>C
NM_000093.4(COL5A1):c.2592+288C>T
NM_000093.4(COL5A1):c.2592+293A>G
NM_000093.4(COL5A1):c.2592+298G>A
NM_000093.4(COL5A1):c.2592+314C>T
NM_000093.4(COL5A1):c.2593-15T>C rs747677530
NM_000093.4(COL5A1):c.2593-253A>C
NM_000093.4(COL5A1):c.2593-3C>T rs199895142
NM_000093.4(COL5A1):c.2593-45G>A rs45497895
NM_000093.4(COL5A1):c.2635C>A (p.Gln879Lys) rs758475317
NM_000093.4(COL5A1):c.2646+12C>T rs751662116
NM_000093.4(COL5A1):c.2646+144T>C
NM_000093.4(COL5A1):c.2646+14G>A rs200583777
NM_000093.4(COL5A1):c.2646+216G>A
NM_000093.4(COL5A1):c.2646+27C>T rs13301426
NM_000093.4(COL5A1):c.2646+287G>A
NM_000093.4(COL5A1):c.2646+91C>T
NM_000093.4(COL5A1):c.2647-250C>T
NM_000093.4(COL5A1):c.2647-9C>G rs757930358
NM_000093.4(COL5A1):c.2660del (p.Phe887fs)
NM_000093.4(COL5A1):c.266A>G (p.Gln89Arg) rs1554780187
NM_000093.4(COL5A1):c.2676C>A (p.Gly892=) rs143161140
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.2700+2T>C
NM_000093.4(COL5A1):c.2700+38G>A rs373636275
NM_000093.4(COL5A1):c.2700+46C>T rs34636935
NM_000093.4(COL5A1):c.2701-103C>A
NM_000093.4(COL5A1):c.2701-12C>G rs751422216
NM_000093.4(COL5A1):c.2701-14T>C rs1554801400
NM_000093.4(COL5A1):c.2701-186T>C
NM_000093.4(COL5A1):c.2701-22C>T rs4072883
NM_000093.4(COL5A1):c.2701-25T>G rs765079080
NM_000093.4(COL5A1):c.2701-301G>A
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.2723C>T (p.Pro908Leu) rs772211736
NM_000093.4(COL5A1):c.2724G>A (p.Pro908=) rs41310207
NM_000093.4(COL5A1):c.2724G>C (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.2744C>T (p.Thr915Met) rs771090557
NM_000093.4(COL5A1):c.2745+15A>T rs79481146
NM_000093.4(COL5A1):c.2745+66A>G
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.2765G>T (p.Gly922Val) rs1564463870
NM_000093.4(COL5A1):c.277+146G>A
NM_000093.4(COL5A1):c.277+20G>C rs772363522
NM_000093.4(COL5A1):c.277+6T>G rs201910803
NM_000093.4(COL5A1):c.278-224T>C
NM_000093.4(COL5A1):c.278-4C>A rs1057522143
NM_000093.4(COL5A1):c.278-50T>C
NM_000093.4(COL5A1):c.2784del (p.Lys929fs) rs863223472
NM_000093.4(COL5A1):c.278C>G (p.Ala93Gly)
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+153C>T
NM_000093.4(COL5A1):c.2799+22C>T
NM_000093.4(COL5A1):c.2799+33G>A
NM_000093.4(COL5A1):c.2799+4T>C rs75815945
NM_000093.4(COL5A1):c.279G>A (p.Ala93=) rs145090868
NM_000093.4(COL5A1):c.2800-172T>C
NM_000093.4(COL5A1):c.2800-18C>A rs73664144
NM_000093.4(COL5A1):c.2800-18C>T rs73664144
NM_000093.4(COL5A1):c.2802C>T (p.Gly934=) rs1554801686
NM_000093.4(COL5A1):c.2809G>A (p.Gly937Arg)
NM_000093.4(COL5A1):c.2812G>C (p.Gly938Arg) rs751950836
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.2842C>T (p.Arg948Trp) rs1030105888
NM_000093.4(COL5A1):c.2844+163T>G
NM_000093.4(COL5A1):c.2844+20G>A rs200916696
NM_000093.4(COL5A1):c.2844+41G>T
NM_000093.4(COL5A1):c.2845-117A>G
NM_000093.4(COL5A1):c.2845-11T>C
NM_000093.4(COL5A1):c.2845-15T>C rs886038233
NM_000093.4(COL5A1):c.2845-17C>A rs368737278
NM_000093.4(COL5A1):c.2845-37A>G rs3811159
NM_000093.4(COL5A1):c.2845-70A>G
NM_000093.4(COL5A1):c.2845-90G>A
NM_000093.4(COL5A1):c.2851A>C (p.Asn951His)
NM_000093.4(COL5A1):c.2852A>G (p.Asn951Ser) rs61736966
NM_000093.4(COL5A1):c.2883A>G (p.Gly961=) rs1244102860
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.2897del (p.Pro966fs) rs1179967153
NM_000093.4(COL5A1):c.2898+114C>T
NM_000093.4(COL5A1):c.2898+116G>A
NM_000093.4(COL5A1):c.2898+20C>T rs781174331
NM_000093.4(COL5A1):c.2898+287TC[3]
NM_000093.4(COL5A1):c.2899-13G>T rs761096695
NM_000093.4(COL5A1):c.2899-261G>A
NM_000093.4(COL5A1):c.2899-273C>T
NM_000093.4(COL5A1):c.2899-318A>G
NM_000093.4(COL5A1):c.2899-72G>A
NM_000093.4(COL5A1):c.28C>T (p.Arg10Cys) rs1457110544
NM_000093.4(COL5A1):c.2902C>G (p.Pro968Ala) rs1564466152
NM_000093.4(COL5A1):c.2903del (p.Pro968fs) rs1057518871
NM_000093.4(COL5A1):c.2905C>G (p.Pro969Ala)
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.2931C>A (p.His977Gln) rs1564466171
NM_000093.4(COL5A1):c.2946C>T (p.Gly982=) rs1060502253
NM_000093.4(COL5A1):c.2947G>A (p.Glu983Lys) rs146348246
NM_000093.4(COL5A1):c.2952+11A>T rs4240707
NM_000093.4(COL5A1):c.2952+2_2952+3del
NM_000093.4(COL5A1):c.2953-235AG[3]
NM_000093.4(COL5A1):c.2953-301G>C
NM_000093.4(COL5A1):c.295G>T (p.Asp99Tyr) rs774095835
NM_000093.4(COL5A1):c.2971G>A (p.Gly991Ser) rs777368013
NM_000093.4(COL5A1):c.297_304dup (p.Ile102fs)
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.2988C>A (p.Pro996=)
NM_000093.4(COL5A1):c.2988del (p.Gly997fs) rs764693725
NM_000093.4(COL5A1):c.2988dup (p.Gly997fs) rs764693725
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.3007-19A>G rs370503113
NM_000093.4(COL5A1):c.3007-36C>G
NM_000093.4(COL5A1):c.3007-96G>A
NM_000093.4(COL5A1):c.3013A>G (p.Thr1005Ala) rs863223446
NM_000093.4(COL5A1):c.3014C>T (p.Thr1005Met) rs201220311
NM_000093.4(COL5A1):c.3015G>T (p.Thr1005=) rs751265351
NM_000093.4(COL5A1):c.301T>C (p.Ser101Pro) rs1554781476
NM_000093.4(COL5A1):c.3023C>T (p.Thr1008Met) rs199735010
NM_000093.4(COL5A1):c.3037G>A (p.Glu1013Lys) rs1060502249
NM_000093.4(COL5A1):c.3054G>A (p.Gly1018=) rs369163868
NM_000093.4(COL5A1):c.3055C>G (p.Pro1019Ala) rs193920927
NM_000093.4(COL5A1):c.3055C>T (p.Pro1019Ser)
NM_000093.4(COL5A1):c.3059C>T (p.Pro1020Leu) rs1001786208
NM_000093.4(COL5A1):c.305T>C (p.Ile102Thr) rs1554781477
NM_000093.4(COL5A1):c.3069C>T (p.Pro1023=) rs139070070
NM_000093.4(COL5A1):c.3069dup (p.Gly1024fs) rs863223473
NM_000093.4(COL5A1):c.3082C>T (p.Leu1028Phe) rs762810181
NM_000093.4(COL5A1):c.3086C>T (p.Pro1029Leu)
NM_000093.4(COL5A1):c.3087G>A (p.Pro1029=) rs774035950
NM_000093.4(COL5A1):c.3096T>A (p.Ala1032=) rs140590510
NM_000093.4(COL5A1):c.309_311AAC[1] (p.Thr105del) rs863223476
NM_000093.4(COL5A1):c.3110C>T (p.Thr1037Met) rs150487609
NM_000093.4(COL5A1):c.3111G>A (p.Thr1037=) rs758336822
NM_000093.4(COL5A1):c.3114+10T>C rs1057523401
NM_000093.4(COL5A1):c.3114+12G>C rs528913410
NM_000093.4(COL5A1):c.3115-108C>T
NM_000093.4(COL5A1):c.3115-10C>T rs1018752469
NM_000093.4(COL5A1):c.3115-67G>A
NM_000093.4(COL5A1):c.3130G>A (p.Ala1044Thr)
NM_000093.4(COL5A1):c.315T>C (p.Thr105=) rs1232024630
NM_000093.4(COL5A1):c.3170G>A (p.Gly1057Asp) rs1554803568
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.3185G>A (p.Arg1062Gln) rs771807198
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.3225C>T (p.Gly1075=) rs1554803625
NM_000093.4(COL5A1):c.3231A>G (p.Glu1077=) rs376248130
NM_000093.4(COL5A1):c.3233G>A (p.Gly1078Glu) rs1554803631
NM_000093.4(COL5A1):c.3235C>T (p.Pro1079Ser)
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.3254C>T (p.Pro1085Leu)
NM_000093.4(COL5A1):c.3257C>T (p.Ala1086Val) rs774849517
NM_000093.4(COL5A1):c.3258+150A>G
NM_000093.4(COL5A1):c.3258+258T>C
NM_000093.4(COL5A1):c.3258+7C>A rs750710374
NM_000093.4(COL5A1):c.3258G>A (p.Ala1086=) rs372844807
NM_000093.4(COL5A1):c.3259-22C>T
NM_000093.4(COL5A1):c.3259-8C>T rs146461106
NM_000093.4(COL5A1):c.3259-99A>T
NM_000093.4(COL5A1):c.3259_3366del (p.Ser1088_Gly1123del)
NM_000093.4(COL5A1):c.3260G>C (p.Gly1087Ala) rs559882772
NM_000093.4(COL5A1):c.3263C>G (p.Ser1088Cys) rs1383949759
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.3292G>A (p.Ala1098Thr) rs772521985
NM_000093.4(COL5A1):c.3294T>C (p.Ala1098=) rs949276689
NM_000093.4(COL5A1):c.3299C>T (p.Pro1100Leu)
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.3309_3325dup (p.Pro1109fs) rs1564471440
NM_000093.4(COL5A1):c.3312A>G (p.Pro1104=) rs1554803839
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.3366+245C>A
NM_000093.4(COL5A1):c.3367-14_3367-12del rs750002182
NM_000093.4(COL5A1):c.3367-280T>G
NM_000093.4(COL5A1):c.3367-281C>T
NM_000093.4(COL5A1):c.3367-86C>T
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.3398G>A (p.Arg1133Gln) rs759580799
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.3421G>C (p.Gly1141Arg) rs1269224473
NM_000093.4(COL5A1):c.3428C>T (p.Pro1143Leu) rs540131206
NM_000093.4(COL5A1):c.343T>A (p.Phe115Ile) rs1564396163
NM_000093.4(COL5A1):c.3441C>A (p.Gly1147=) rs755982747
NM_000093.4(COL5A1):c.3465C>T (p.Asp1155=) rs145134399
NM_000093.4(COL5A1):c.3474+255G>A
NM_000093.4(COL5A1):c.3474+64G>A
NM_000093.4(COL5A1):c.3474+7C>T rs550497696
NM_000093.4(COL5A1):c.3475-299A>G
NM_000093.4(COL5A1):c.3475-36A>C rs13297647
NM_000093.4(COL5A1):c.3475-42G>C rs3811152
NM_000093.4(COL5A1):c.3491C>T (p.Pro1164Leu)
NM_000093.4(COL5A1):c.3495G>A (p.Gly1165=) rs886038234
NM_000093.4(COL5A1):c.34G>A (p.Ala12Thr) rs1160540030
NM_000093.4(COL5A1):c.350T>G (p.Val117Gly) rs1554781492
NM_000093.4(COL5A1):c.3510G>A (p.Lys1170=) rs543950268
NM_000093.4(COL5A1):c.3528+14C>T rs371865645
NM_000093.4(COL5A1):c.3528+19G>T rs200672136
NM_000093.4(COL5A1):c.3528+295T>C
NM_000093.4(COL5A1):c.3528+43G>A rs41306395
NM_000093.4(COL5A1):c.3528+46G>C rs3827850
NM_000093.4(COL5A1):c.3529-172G>A
NM_000093.4(COL5A1):c.3529-1G>T
NM_000093.4(COL5A1):c.3529-5C>T rs755227263
NM_000093.4(COL5A1):c.353C>G (p.Ser118Cys) rs1554781494
NM_000093.4(COL5A1):c.3545C>T (p.Thr1182Ile) rs1057524867
NM_000093.4(COL5A1):c.354C>T (p.Ser118=) rs748711211
NM_000093.4(COL5A1):c.3551C>T (p.Pro1184Leu) rs749093832
NM_000093.4(COL5A1):c.3562A>G (p.Ile1188Val)
NM_000093.4(COL5A1):c.3564C>A (p.Ile1188=) rs766961124
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.3584_3585delinsAT (p.Gly1195Asp) rs1060502247
NM_000093.4(COL5A1):c.3591C>T (p.Asp1197=) rs370349155
NM_000093.4(COL5A1):c.3592G>A (p.Gly1198Ser) rs372499629
NM_000093.4(COL5A1):c.3594C>T (p.Gly1198=) rs146176718
NM_000093.4(COL5A1):c.3595G>A (p.Glu1199Lys) rs867211079
NM_000093.4(COL5A1):c.3595G>C (p.Glu1199Gln) rs867211079
NM_000093.4(COL5A1):c.35C>A (p.Ala12Glu)
NM_000093.4(COL5A1):c.3600G>A (p.Pro1200=) rs187345008
NM_000093.4(COL5A1):c.3622C>T (p.Leu1208Phe) rs863223450
NM_000093.4(COL5A1):c.3627C>T (p.Phe1209=) rs748000980
NM_000093.4(COL5A1):c.363C>T (p.Asn121=) rs369180922
NM_000093.4(COL5A1):c.3649C>T (p.Pro1217Ser) rs139116598
NM_000093.4(COL5A1):c.3656G>C (p.Gly1219Ala) rs1564475073
NM_000093.4(COL5A1):c.365A>G (p.Glu122Gly) rs886063673
NM_000093.4(COL5A1):c.3667C>T (p.Pro1223Ser)
NM_000093.4(COL5A1):c.367C>G (p.Gln123Glu) rs142114921
NM_000093.4(COL5A1):c.3684del (p.Leu1229fs) rs1564475090
NM_000093.4(COL5A1):c.3690+6T>A rs375998368
NM_000093.4(COL5A1):c.3691-9T>C rs187584029
NM_000093.4(COL5A1):c.3698C>T (p.Pro1233Leu) rs886039091
NM_000093.4(COL5A1):c.36G>A (p.Ala12=) rs1029930975
NM_000093.4(COL5A1):c.36G>C (p.Ala12=) rs1029930975
NM_000093.4(COL5A1):c.3711C>T (p.Gly1237=) rs763583510
NM_000093.4(COL5A1):c.3720T>C (p.Gly1240=) rs1554805072
NM_000093.4(COL5A1):c.3726_3732del (p.Gly1243fs) rs1554805076
NM_000093.4(COL5A1):c.3732C>T (p.Asp1244=) rs377422775
NM_000093.4(COL5A1):c.3733G>A (p.Val1245Met) rs1435045393
NM_000093.4(COL5A1):c.3744+19C>T rs200498760
NM_000093.4(COL5A1):c.3744+39C>T
NM_000093.4(COL5A1):c.3745-18G>A rs45556931
NM_000093.4(COL5A1):c.3745-37G>A rs45629034
NM_000093.4(COL5A1):c.3746delG rs35002351
NM_000093.4(COL5A1):c.3750C>G (p.Pro1250=) rs192806271
NM_000093.4(COL5A1):c.3752del (p.Pro1251fs) rs786205100
NM_000093.4(COL5A1):c.3752dup (p.Pro1253fs) rs786205100
NM_000093.4(COL5A1):c.3753G>A (p.Pro1251=) rs779638584
NM_000093.4(COL5A1):c.3760C>T (p.Pro1254Ser) rs1554805125
NM_000093.4(COL5A1):c.3762del (p.Gly1255fs) rs1057518653
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.3780C>T (p.Ser1260=) rs150591401
NM_000093.4(COL5A1):c.3781G>A (p.Gly1261Arg) rs772445337
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.3805C>T (p.Gln1269Ter) rs1554805142
NM_000093.4(COL5A1):c.3812C>G (p.Pro1271Arg) rs771146636
NM_000093.4(COL5A1):c.3812C>T (p.Pro1271Leu) rs771146636
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.3852+10G>A rs749190469
NM_000093.4(COL5A1):c.3852+181A>G
NM_000093.4(COL5A1):c.3852+47A>T rs111564392
NM_000093.4(COL5A1):c.3852+9C>T rs548696863
NM_000093.4(COL5A1):c.3853-125C>A
NM_000093.4(COL5A1):c.3853-50G>A
NM_000093.4(COL5A1):c.3855C>T (p.Gly1285=) rs139544503
NM_000093.4(COL5A1):c.3864C>T (p.Gly1288=)
NM_000093.4(COL5A1):c.3868G>A (p.Ala1290Thr) rs863223451
NM_000093.4(COL5A1):c.3870A>G (p.Ala1290=)
NM_000093.4(COL5A1):c.3887C>T (p.Pro1296Leu)
NM_000093.4(COL5A1):c.3888G>A (p.Pro1296=) rs375631252
NM_000093.4(COL5A1):c.3897C>T (p.Gly1299=) rs745918663
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+34A>G
NM_000093.4(COL5A1):c.3906+3G>T rs786200922
NM_000093.4(COL5A1):c.3906+7G>A rs200333878
NM_000093.4(COL5A1):c.3907-258A>G
NM_000093.4(COL5A1):c.3911C>T (p.Pro1304Leu) rs1554805618
NM_000093.4(COL5A1):c.3912C>T (p.Pro1304=) rs773909152
NM_000093.4(COL5A1):c.3916G>A (p.Gly1306Arg)
NM_000093.4(COL5A1):c.3921A>G (p.Glu1307=) rs1322220087
NM_000093.4(COL5A1):c.3936C>T (p.Gly1312=) rs367804791
NM_000093.4(COL5A1):c.3939G>T (p.Glu1313Asp) rs886063676
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.3983del (p.Pro1328fs) rs1554805638
NM_000093.4(COL5A1):c.3987C>T (p.Pro1329=) rs770802769
NM_000093.4(COL5A1):c.3988G>A (p.Gly1330Arg) rs1060502254
NM_000093.4(COL5A1):c.3991G>A (p.Asp1331Asn) rs545973022
NM_000093.4(COL5A1):c.3999T>C (p.Gly1333=) rs1554805651
NM_000093.4(COL5A1):c.4014+209A>G
NM_000093.4(COL5A1):c.4014+7A>G rs1554805661
NM_000093.4(COL5A1):c.4015-19C>T rs527971001
NM_000093.4(COL5A1):c.4015-212C>T
NM_000093.4(COL5A1):c.4015-30C>T
NM_000093.4(COL5A1):c.401G>A (p.Arg134His) rs1442400098
NM_000093.4(COL5A1):c.4020A>G (p.Pro1340=) rs776564144
NM_000093.4(COL5A1):c.4039C>T (p.Pro1347Ser) rs769470285
NM_000093.4(COL5A1):c.4043G>C (p.Gly1348Ala) rs1060502252
NM_000093.4(COL5A1):c.4044C>T (p.Gly1348=) rs369945188
NM_000093.4(COL5A1):c.4048C>G (p.Pro1350Ala) rs762699995
NM_000093.4(COL5A1):c.4050C>A (p.Pro1350=) rs773853291
NM_000093.4(COL5A1):c.4050C>T (p.Pro1350=) rs773853291
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+11A>G
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.4069-1G>T rs1564478485
NM_000093.4(COL5A1):c.406C>T (p.Pro136Ser) rs777625241
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.409G>T (p.Val137Phe)
NM_000093.4(COL5A1):c.4113C>T (p.Pro1371=) rs143794669
NM_000093.4(COL5A1):c.4121C>T (p.Thr1374Met) rs151115748
NM_000093.4(COL5A1):c.4122+287G>A
NM_000093.4(COL5A1):c.4122+97C>A
NM_000093.4(COL5A1):c.4122G>A (p.Thr1374=) rs3827848
NM_000093.4(COL5A1):c.4123-10C>T rs1057524402
NM_000093.4(COL5A1):c.4123-302C>G
NM_000093.4(COL5A1):c.4123-303C>A
NM_000093.4(COL5A1):c.4126T>C (p.Ser1376Pro) rs869025373
NM_000093.4(COL5A1):c.4126dup (p.Ser1376fs) 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.4144G>A (p.Glu1382Lys) rs1554806121
NM_000093.4(COL5A1):c.4158G>A (p.Ser1386=) rs1383677988
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+19A>C rs746397034
NM_000093.4(COL5A1):c.4176+257C>G
NM_000093.4(COL5A1):c.4176+35A>C rs10776910
NM_000093.4(COL5A1):c.4176+3A>T rs1554806134
NM_000093.4(COL5A1):c.4176+48A>G rs10858283
NM_000093.4(COL5A1):c.4176+9T>G rs10858282
NM_000093.4(COL5A1):c.4177-107T>C rs7854010
NM_000093.4(COL5A1):c.4177-151G>T
NM_000093.4(COL5A1):c.417C>T (p.Leu139=) rs138687282
NM_000093.4(COL5A1):c.4184del (p.Pro1395fs) rs794727760
NM_000093.4(COL5A1):c.4188C>T (p.Gly1396=)
NM_000093.4(COL5A1):c.4192G>A (p.Ala1398Thr) rs759464073
NM_000093.4(COL5A1):c.4192G>T (p.Ala1398Ser) rs759464073
NM_000093.4(COL5A1):c.4197C>T (p.Gly1399=) rs1397888531
NM_000093.4(COL5A1):c.4200C>T (p.Pro1400=) rs752468183
NM_000093.4(COL5A1):c.4203del (p.Gly1402fs) rs1060502255
NM_000093.4(COL5A1):c.420C>T (p.Tyr140=) rs540553997
NM_000093.4(COL5A1):c.4212G>C (p.Gln1404His) rs1554806295
NM_000093.4(COL5A1):c.4230+103T>C rs11792894
NM_000093.4(COL5A1):c.4230+118C>T rs7847840
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.4231-183G>A
NM_000093.4(COL5A1):c.4231-228G>A
NM_000093.4(COL5A1):c.4231-9G>A rs570545638
NM_000093.4(COL5A1):c.4232delG rs1060502259
NM_000093.4(COL5A1):c.4234G>A (p.Glu1412Lys) rs376893441
NM_000093.4(COL5A1):c.4238C>A (p.Ala1413Asp) rs1564480902
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.4275C>G (p.Ile1425Met) rs767372665
NM_000093.4(COL5A1):c.4275C>T (p.Ile1425=) rs767372665
NM_000093.4(COL5A1):c.4276G>A (p.Gly1426Ser) rs374868484
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.4283del (p.Gln1428fs) rs863223474
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.4290C>T (p.Ala1430=) rs368011067
NM_000093.4(COL5A1):c.4297A>G (p.Lys1433Glu) rs1554806543
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.4319G>A (p.Arg1440Gln)
NM_000093.4(COL5A1):c.431C>A (p.Thr144Lys) rs561761305
NM_000093.4(COL5A1):c.431C>T (p.Thr144Met) rs561761305
NM_000093.4(COL5A1):c.431_432delinsAT (p.Thr144Asn) rs864622040
NM_000093.4(COL5A1):c.4326C>A (p.Ile1442=) rs942145911
NM_000093.4(COL5A1):c.4333C>T (p.Pro1445Ser)
NM_000093.4(COL5A1):c.4338+18G>C rs781247782
NM_000093.4(COL5A1):c.4338+1G>A rs1564481053
NM_000093.4(COL5A1):c.4339-1delG rs786205102
NM_000093.4(COL5A1):c.4339-3C>G
NM_000093.4(COL5A1):c.4351C>A (p.Leu1451Ile) rs369740453
NM_000093.4(COL5A1):c.4351C>G (p.Leu1451Val) rs369740453
NM_000093.4(COL5A1):c.4358G>T (p.Gly1453Val)
NM_000093.4(COL5A1):c.4366G>A (p.Gly1456Ser) rs1564481153
NM_000093.4(COL5A1):c.4367G>T (p.Gly1456Val) rs1564481157
NM_000093.4(COL5A1):c.4370C>T (p.Pro1457Leu) rs201875250
NM_000093.4(COL5A1):c.4371G>A (p.Pro1457=) rs756096066
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.4392+5G>A rs886043312
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.4423G>C (p.Asp1475His) rs1554806674
NM_000093.4(COL5A1):c.4433C>T (p.Pro1478Leu) rs377062537
NM_000093.4(COL5A1):c.4446+134A>C
NM_000093.4(COL5A1):c.4446+14C>T rs1564481400
NM_000093.4(COL5A1):c.446C>T (p.Pro149Leu) rs369971694
NM_000093.4(COL5A1):c.458C>T (p.Pro153Leu) rs771925785
NM_000093.4(COL5A1):c.460C>T (p.Leu154Phe) rs1554781521
NM_000093.4(COL5A1):c.467G>A (p.Arg156Gln) rs770896795
NM_000093.4(COL5A1):c.484G>C (p.Asp162His) rs1564396342
NM_000093.4(COL5A1):c.491+271C>T
NM_000093.4(COL5A1):c.491+3A>C rs1554781526
NM_000093.4(COL5A1):c.491+92C>T
NM_000093.4(COL5A1):c.491+9G>A rs752150900
NM_000093.4(COL5A1):c.492-16A>G
NM_000093.4(COL5A1):c.492-280C>T
NM_000093.4(COL5A1):c.492-3C>T rs1027866868
NM_000093.4(COL5A1):c.492-56T>C
NM_000093.4(COL5A1):c.492-76C>G
NM_000093.4(COL5A1):c.494G>A (p.Trp165Ter)
NM_000093.4(COL5A1):c.497A>G (p.His166Arg) rs1057524357
NM_000093.4(COL5A1):c.502A>G (p.Ile168Val) rs112858705
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.515T>A (p.Val172Asp) rs1554781678
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.543C>T (p.Leu181=) rs368485498
NM_000093.4(COL5A1):c.548G>A (p.Cys183Tyr) rs1060502251
NM_000093.4(COL5A1):c.558G>A (p.Lys186=) rs1564397188
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.583G>A (p.Asp195Asn) rs781248560
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.599A>C (p.Asp200Ala) rs1554781695
NM_000093.4(COL5A1):c.603C>T (p.Ile201=) rs747624923
NM_000093.4(COL5A1):c.608G>T (p.Gly203Val) rs1554781700
NM_000093.4(COL5A1):c.610A>G (p.Ile204Val) rs1060502245
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.628C>T (p.Arg210Trp) rs1490728700
NM_000093.4(COL5A1):c.654+105G>A
NM_000093.4(COL5A1):c.654+213C>T
NM_000093.4(COL5A1):c.654+73G>A
NM_000093.4(COL5A1):c.655-106G>A
NM_000093.4(COL5A1):c.655-142G>A
NM_000093.4(COL5A1):c.655-16G>A rs371301230
NM_000093.4(COL5A1):c.655-1917_690del
NM_000093.4(COL5A1):c.655-1G>C rs1554787526
NM_000093.4(COL5A1):c.655-2A>G rs786205101
NM_000093.4(COL5A1):c.655-320G>A
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.660C>G (p.Asp220Glu) rs570691491
NM_000093.4(COL5A1):c.668A>G (p.Gln223Arg) rs1554787531
NM_000093.4(COL5A1):c.67_69CTG[3] (p.Leu26_Leu28del) rs773994971
NM_000093.4(COL5A1):c.67_69CTG[5] (p.Leu28del) rs773994971
NM_000093.4(COL5A1):c.67_69CTG[7] (p.Leu28dup) rs773994971
NM_000093.4(COL5A1):c.680T>C (p.Val227Ala) rs376144196
NM_000093.4(COL5A1):c.683C>T (p.Ser228Leu) rs770737485
NM_000093.4(COL5A1):c.684G>A (p.Ser228=) rs139705205
NM_000093.4(COL5A1):c.691C>T (p.Arg231Trp) rs775853003
NM_000093.4(COL5A1):c.692G>A (p.Arg231Gln)
NM_000093.4(COL5A1):c.6C>G (p.Asp2Glu) rs1064796482
NM_000093.4(COL5A1):c.710G>A (p.Cys237Tyr)
NM_000093.4(COL5A1):c.723C>T (p.Ser241=) rs1554787555
NM_000093.4(COL5A1):c.727G>A (p.Asp243Asn) rs758431206
NM_000093.4(COL5A1):c.730_731TG[1] (p.Cys244_Asp245delinsTer) rs1554787557
NM_000093.4(COL5A1):c.735C>T (p.Asp245=) rs746769184
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>A (p.Thr251=) rs374813957
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.766G>A (p.Asp256Asn) rs886038237
NM_000093.4(COL5A1):c.773A>G (p.Asn258Ser) rs1554787566
NM_000093.4(COL5A1):c.786+182T>G
NM_000093.4(COL5A1):c.786+271G>C
NM_000093.4(COL5A1):c.787-15G>A rs150200872
NM_000093.4(COL5A1):c.787-180G>A
NM_000093.4(COL5A1):c.787-181C>T
NM_000093.4(COL5A1):c.787-42C>T rs3124302
NM_000093.4(COL5A1):c.787-8G>A
NM_000093.4(COL5A1):c.787-99G>A
NM_000093.4(COL5A1):c.787-9C>G rs751472921
NM_000093.4(COL5A1):c.787-9C>T rs751472921
NM_000093.4(COL5A1):c.790A>C (p.Thr264Pro) rs863223440
NM_000093.4(COL5A1):c.791C>T (p.Thr264Met) rs148548209
NM_000093.4(COL5A1):c.792G>A (p.Thr264=) rs757360763
NM_000093.4(COL5A1):c.792G>T (p.Thr264=) rs757360763
NM_000093.4(COL5A1):c.802G>A (p.Gly268Ser) rs748603743
NM_000093.4(COL5A1):c.803G>T (p.Gly268Val) rs145552797
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.825C>T (p.Tyr275=) rs771253587
NM_000093.4(COL5A1):c.82C>A (p.Leu28Met) rs1312200383
NM_000093.4(COL5A1):c.841del (p.Glu281fs) rs1554787779
NM_000093.4(COL5A1):c.849C>T (p.Pro283=)
NM_000093.4(COL5A1):c.850G>A (p.Glu284Lys) rs75648697
NM_000093.4(COL5A1):c.860G>A (p.Gly287Glu)
NM_000093.4(COL5A1):c.868C>T (p.Pro290Ser)
NM_000093.4(COL5A1):c.888C>T (p.Pro296=)
NM_000093.4(COL5A1):c.904G>T (p.Glu302Ter) rs1554787811
NM_000093.4(COL5A1):c.921C>T (p.Pro307=) rs144335980
NM_000093.4(COL5A1):c.922G>A (p.Glu308Lys) rs770173348
NM_000093.4(COL5A1):c.924+13C>T rs199836060
NM_000093.4(COL5A1):c.924+148G>C
NM_000093.4(COL5A1):c.924+14G>A rs200595318
NM_000093.4(COL5A1):c.924+194A>C
NM_000093.4(COL5A1):c.924+297C>A
NM_000093.4(COL5A1):c.924+35C>A
NM_000093.4(COL5A1):c.925-180C>T
NM_000093.4(COL5A1):c.925-43G>A rs3128598
NM_000093.4(COL5A1):c.925-44C>T rs41302966
NM_000093.4(COL5A1):c.925-49A>G rs3124308
NM_000093.4(COL5A1):c.925-63C>T
NM_000093.4(COL5A1):c.92C>A (p.Pro31Gln)
NM_000093.4(COL5A1):c.934C>G (p.Pro312Ala) rs140105243
NM_000093.4(COL5A1):c.935C>T (p.Pro312Leu)
NM_000093.4(COL5A1):c.936G>A (p.Pro312=) rs150364815
NM_000093.4(COL5A1):c.944C>T (p.Thr315Met) rs145093766
NM_000093.4(COL5A1):c.945G>A (p.Thr315=) rs149123775
NM_000093.4(COL5A1):c.94C>T (p.Pro32Ser) rs886042620
NM_000093.4(COL5A1):c.962C>T (p.Pro321Leu) rs1085307805
NM_000093.4(COL5A1):c.964G>A (p.Glu322Lys) rs199857770
NM_000093.4(COL5A1):c.977G>A (p.Gly326Glu) rs748152732
NM_000093.4(COL5A1):c.983G>A (p.Gly328Glu) rs576742644
NM_000093.4(COL5A1):c.987G>A (p.Lys329=)
NM_000093.4(COL5A1):c.996C>T (p.Asp332=) rs144763302
NM_000093.4(COL5A1):c.999C>T (p.Val333=) rs138702819
NM_000093.4(COL5A1):c.9C>A (p.Val3=) rs1554772559
NM_001278074.1(COL5A1):c.3206dup (p.Ala1070Serfs) rs1554803622
NM_001278074.1(COL5A1):c.3583-6dup rs773032514

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