ClinVar Miner

List of variants in gene COL5A1 studied for Ehlers-Danlos syndrome, classic type

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Gene type:
ClinVar version:
Total variants: 601
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HGVS dbSNP
GRCh37/hg19 9q34.3(chr9:137496881-137648441)
NC_000009.11:g.(?_137533651)_(137534142_?)dup
NC_000009.11:g.(?_137582738)_(137593199_?)dup
NC_000009.12:g.(?_134642178)_(134701343_?)del
NC_000009.12:g.(?_134642178)_(134768473_?)del
NC_000009.12:g.(?_134690892)_(134691099_?)del
NC_000009.12:g.(?_134690892)_(134763757_?)del
NC_000009.12:g.(?_134690902)_(134727407_?)del
NC_000009.12:g.(?_134699889)_(134700142_?)del
NC_000009.12:g.(?_134727246)_(134728827_?)del
NC_000009.12:g.(?_134752569)_(134752665_?)del
NC_000009.12:g.(?_134782657)_(134842313_?)del
NC_000009.12:g.(?_134789143)_(134789218_?)dup
NC_000009.12:g.(?_134842147)_(134842313_?)del
NC_000009.12:g.134785996dup
NM_000093.4(COL5A1):c.1720-136_1929del
NM_000093.4(COL5A1):c.2389delG rs1564453833
NM_000093.4(COL5A1):c.3259_3366del (p.Ser1088_Gly1123del)
NM_000093.4(COL5A1):c.3746delG rs35002351
NM_000093.4(COL5A1):c.4232delG rs1060502259
NM_000093.4(COL5A1):c.4339-1delG rs786205102
NM_000093.5(COL5A1):c.-199C>T
NM_000093.5(COL5A1):c.1011C>G (p.Asp337Glu)
NM_000093.5(COL5A1):c.1074C>T (p.Gly358=) rs561440698
NM_000093.5(COL5A1):c.1093G>A (p.Asp365Asn)
NM_000093.5(COL5A1):c.1094_1095del (p.Asp365fs)
NM_000093.5(COL5A1):c.110-1G>C
NM_000093.5(COL5A1):c.1100C>T (p.Pro367Leu)
NM_000093.5(COL5A1):c.1114G>T (p.Ala372Ser)
NM_000093.5(COL5A1):c.1115C>A (p.Ala372Asp)
NM_000093.5(COL5A1):c.1130C>A (p.Pro377His)
NM_000093.5(COL5A1):c.1134C>T (p.Thr378=) rs373594322
NM_000093.5(COL5A1):c.1157C>T (p.Ser386Phe)
NM_000093.5(COL5A1):c.1165-4G>T
NM_000093.5(COL5A1):c.1190C>T (p.Ala397Val)
NM_000093.5(COL5A1):c.1194_1196delinsG (p.Asp398fs)
NM_000093.5(COL5A1):c.1239C>T (p.Asp413=) rs775974461
NM_000093.5(COL5A1):c.1377G>A (p.Ala459=) rs746091599
NM_000093.5(COL5A1):c.1409C>T (p.Pro470Leu)
NM_000093.5(COL5A1):c.1432G>T (p.Gly478Cys)
NM_000093.5(COL5A1):c.1441G>A (p.Gly481Arg)
NM_000093.5(COL5A1):c.1445C>T (p.Pro482Leu)
NM_000093.5(COL5A1):c.1499C>T (p.Pro500Leu)
NM_000093.5(COL5A1):c.1570-10A>T rs530036079
NM_000093.5(COL5A1):c.1587C>T (p.Gly529=) rs529255491
NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045
NM_000093.5(COL5A1):c.1639C>T (p.Gln547Ter)
NM_000093.5(COL5A1):c.1657G>A (p.Ala553Thr)
NM_000093.5(COL5A1):c.1662+1G>A
NM_000093.5(COL5A1):c.1691T>A (p.Met564Lys)
NM_000093.5(COL5A1):c.16C>G (p.Arg6Gly)
NM_000093.5(COL5A1):c.1720-1G>A
NM_000093.5(COL5A1):c.1750G>A (p.Glu584Lys)
NM_000093.5(COL5A1):c.1825C>T (p.Arg609Trp)
NM_000093.5(COL5A1):c.1828-3C>G
NM_000093.5(COL5A1):c.187G>A (p.Ala63Thr)
NM_000093.5(COL5A1):c.1882-5del rs1554793544
NM_000093.5(COL5A1):c.1889G>A (p.Arg630Gln) rs781667754
NM_000093.5(COL5A1):c.1920C>A (p.Gly640=) rs781663334
NM_000093.5(COL5A1):c.1930C>T (p.His644Tyr)
NM_000093.5(COL5A1):c.1949C>T (p.Pro650Leu)
NM_000093.5(COL5A1):c.1967C>T (p.Pro656Leu) rs748345448
NM_000093.5(COL5A1):c.196C>T (p.Arg66Ter)
NM_000093.5(COL5A1):c.1977C>A (p.Asp659Glu)
NM_000093.5(COL5A1):c.1978G>A (p.Asp660Asn)
NM_000093.5(COL5A1):c.197G>A (p.Arg66Gln)
NM_000093.5(COL5A1):c.1989+1G>C
NM_000093.5(COL5A1):c.2013C>T (p.Pro671=) rs372082908
NM_000093.5(COL5A1):c.2088+4dup
NM_000093.5(COL5A1):c.2092_2093delinsCA (p.Val698His) rs1554796087
NM_000093.5(COL5A1):c.2097G>A (p.Thr699=) rs368590323
NM_000093.5(COL5A1):c.2159del (p.Pro720fs)
NM_000093.5(COL5A1):c.2184C>T (p.Ala728=) rs150993138
NM_000093.5(COL5A1):c.2187+6T>C
NM_000093.5(COL5A1):c.2188-8C>T rs369789387
NM_000093.5(COL5A1):c.2264T>G (p.Met755Arg)
NM_000093.5(COL5A1):c.2293C>T (p.Pro765Ser)
NM_000093.5(COL5A1):c.2553del (p.Asn852fs)
NM_000093.5(COL5A1):c.2647-3C>G
NM_000093.5(COL5A1):c.265C>T (p.Gln89Ter)
NM_000093.5(COL5A1):c.2660del (p.Phe887fs) rs1588551159
NM_000093.5(COL5A1):c.2677G>A (p.Ala893Thr)
NM_000093.5(COL5A1):c.26C>A (p.Ala9Glu)
NM_000093.5(COL5A1):c.2700+191C>T rs183885286
NM_000093.5(COL5A1):c.2715G>T (p.Lys905Asn)
NM_000093.5(COL5A1):c.2726G>A (p.Arg909Gln)
NM_000093.5(COL5A1):c.2735G>A (p.Arg912Gln)
NM_000093.5(COL5A1):c.2831C>T (p.Pro944Leu)
NM_000093.5(COL5A1):c.2951C>G (p.Thr984Ser)
NM_000093.5(COL5A1):c.2986C>T (p.Pro996Ser)
NM_000093.5(COL5A1):c.2992G>A (p.Val998Met)
NM_000093.5(COL5A1):c.2998G>A (p.Gly1000Ser)
NM_000093.5(COL5A1):c.3040C>T (p.Arg1014Cys)
NM_000093.5(COL5A1):c.3041G>A (p.Arg1014His)
NM_000093.5(COL5A1):c.3114+1G>A
NM_000093.5(COL5A1):c.3115-14G>A
NM_000093.5(COL5A1):c.3166C>T (p.Arg1056Cys)
NM_000093.5(COL5A1):c.3167G>A (p.Arg1056His)
NM_000093.5(COL5A1):c.3227A>G (p.Asn1076Ser)
NM_000093.5(COL5A1):c.3297del (p.Ile1101fs)
NM_000093.5(COL5A1):c.3317G>A (p.Arg1106Lys)
NM_000093.5(COL5A1):c.3382C>A (p.Gln1128Lys)
NM_000093.5(COL5A1):c.3429G>A (p.Pro1143=)
NM_000093.5(COL5A1):c.3476G>A (p.Gly1159Glu)
NM_000093.5(COL5A1):c.3583-6dup rs773032514
NM_000093.5(COL5A1):c.3583-7C>G
NM_000093.5(COL5A1):c.3608G>A (p.Arg1203Gln)
NM_000093.5(COL5A1):c.374T>G (p.Ile125Ser)
NM_000093.5(COL5A1):c.3874G>A (p.Glu1292Lys)
NM_000093.5(COL5A1):c.3975C>T (p.Pro1325=) rs951777673
NM_000093.5(COL5A1):c.4050dup (p.Gly1351fs)
NM_000093.5(COL5A1):c.4069-6C>T rs756079712
NM_000093.5(COL5A1):c.4110A>G (p.Glu1370=)
NM_000093.5(COL5A1):c.4111C>G (p.Pro1371Ala)
NM_000093.5(COL5A1):c.4114G>A (p.Gly1372Arg)
NM_000093.5(COL5A1):c.4198C>T (p.Pro1400Ser)
NM_000093.5(COL5A1):c.4289C>G (p.Ala1430Gly)
NM_000093.5(COL5A1):c.432G>T (p.Thr144=)
NM_000093.5(COL5A1):c.4368C>T (p.Gly1456=)
NM_000093.5(COL5A1):c.4372G>A (p.Asp1458Asn) rs577270517
NM_000093.5(COL5A1):c.4375G>A (p.Gly1459Ser)
NM_000093.5(COL5A1):c.4392+8A>G rs764596365
NM_000093.5(COL5A1):c.447G>A (p.Pro149=) rs200290973
NM_000093.5(COL5A1):c.453C>G (p.Asp151Glu)
NM_000093.5(COL5A1):c.459C>T (p.Pro153=) rs1588448882
NM_000093.5(COL5A1):c.508C>G (p.Leu170Val)
NM_000093.5(COL5A1):c.57G>A (p.Leu19=) rs761259908
NM_000093.5(COL5A1):c.582C>T (p.Ser194=) rs563191799
NM_000093.5(COL5A1):c.590C>T (p.Pro197Leu)
NM_000093.5(COL5A1):c.592A>G (p.Met198Val)
NM_000093.5(COL5A1):c.609C>T (p.Gly203=)
NM_000093.5(COL5A1):c.695C>T (p.Ala232Val)
NM_000093.5(COL5A1):c.761C>A (p.Ser254Ter)
NM_000093.5(COL5A1):c.774T>C (p.Asn258=) rs199742873
NM_000093.5(COL5A1):c.801C>T (p.Asp267=) rs778401280
NM_000093.5(COL5A1):c.849del (p.Glu284fs) rs1588477255
NM_000093.5(COL5A1):c.876dup (p.Ser293fs)
NM_001278074.1(COL5A1):c.-110A>G rs180741151
NM_001278074.1(COL5A1):c.-37G>A rs374979485
NM_001278074.1(COL5A1):c.-382C>G rs555826102
NM_001278074.1(COL5A1):c.-4C>G rs769694875
NM_001278074.1(COL5A1):c.1044G>T (p.Thr348=) rs1246095864
NM_001278074.1(COL5A1):c.1048T>C (p.Ser350Pro) rs1588479393
NM_001278074.1(COL5A1):c.1052C>A (p.Pro351Gln) rs887190843
NM_001278074.1(COL5A1):c.1062C>T (p.Asp354=) rs61737708
NM_001278074.1(COL5A1):c.1075G>A (p.Glu359Lys) rs769752636
NM_001278074.1(COL5A1):c.1075G>T (p.Glu359Ter) rs769752636
NM_001278074.1(COL5A1):c.1077G>A (p.Glu359=) rs201166370
NM_001278074.1(COL5A1):c.1092C>T (p.Pro364=) rs41306391
NM_001278074.1(COL5A1):c.110-3C>G rs1554780148
NM_001278074.1(COL5A1):c.1114G>A (p.Ala372Thr) rs755289850
NM_001278074.1(COL5A1):c.1119G>A (p.Gly373=) rs1060504528
NM_001278074.1(COL5A1):c.1120G>A (p.Ala374Thr) rs370499963
NM_001278074.1(COL5A1):c.1143C>T (p.Ala381=) rs200245996
NM_001278074.1(COL5A1):c.1144G>A (p.Asp382Asn) rs148288567
NM_001278074.1(COL5A1):c.1147A>G (p.Thr383Ala) rs747758069
NM_001278074.1(COL5A1):c.1158C>T (p.Ser386=) rs61729497
NM_001278074.1(COL5A1):c.1163A>G (p.Asn388Ser) rs150837465
NM_001278074.1(COL5A1):c.1175C>T (p.Pro392Leu) rs1290737803
NM_001278074.1(COL5A1):c.1191G>T (p.Ala397=) rs199755089
NM_001278074.1(COL5A1):c.1224G>C (p.Thr408=) rs139406076
NM_001278074.1(COL5A1):c.1228C>T (p.Arg410Trp) rs745360062
NM_001278074.1(COL5A1):c.1239C>G (p.Asp413Glu) rs775974461
NM_001278074.1(COL5A1):c.1240G>A (p.Glu414Lys) rs763456705
NM_001278074.1(COL5A1):c.1246_1257TACTACGACCCC[1] (p.416_419YYDP[1]) rs745934765
NM_001278074.1(COL5A1):c.1246_1257TACTACGACCCC[3] (p.416_419YYDP[3]) rs745934765
NM_001278074.1(COL5A1):c.1264G>C (p.Asp422His) rs760798318
NM_001278074.1(COL5A1):c.126C>T (p.Leu42=) rs149369116
NM_001278074.1(COL5A1):c.126_128del (p.Leu43del) rs1564390373
NM_001278074.1(COL5A1):c.1270A>G (p.Thr424Ala) rs535363331
NM_001278074.1(COL5A1):c.1271C>G (p.Thr424Ser) rs752619850
NM_001278074.1(COL5A1):c.1280C>T (p.Pro427Leu) rs751337133
NM_001278074.1(COL5A1):c.1281G>A (p.Pro427=) rs147292897
NM_001278074.1(COL5A1):c.1283C>T (p.Ser428Leu) rs770793962
NM_001278074.1(COL5A1):c.1291G>A (p.Gly431Arg) rs962170388
NM_001278074.1(COL5A1):c.1292G>A (p.Gly431Glu) rs370311038
NM_001278074.1(COL5A1):c.1295C>T (p.Pro432Leu) rs140943202
NM_001278074.1(COL5A1):c.12T>C (p.His4=) rs368818087
NM_001278074.1(COL5A1):c.1303C>G (p.Pro435Ala) rs377488010
NM_001278074.1(COL5A1):c.1307C>T (p.Ala436Val) rs144269434
NM_001278074.1(COL5A1):c.1316A>T (p.Asp439Val) rs1060502244
NM_001278074.1(COL5A1):c.1332+46T>C rs3109675
NM_001278074.1(COL5A1):c.1332+92C>G rs3124310
NM_001278074.1(COL5A1):c.1333-6_1333-5insAGATTGTC rs1588481731
NM_001278074.1(COL5A1):c.1333-8A>G rs145620416
NM_001278074.1(COL5A1):c.1340G>A (p.Gly447Glu) rs753549769
NM_001278074.1(COL5A1):c.1345C>T (p.Arg449Trp) rs374020067
NM_001278074.1(COL5A1):c.1350C>T (p.Gly450=) rs576332528
NM_001278074.1(COL5A1):c.1352A>T (p.Glu451Val) rs1060502243
NM_001278074.1(COL5A1):c.1364del (p.Lys455fs) rs1564418237
NM_001278074.1(COL5A1):c.1383C>G (p.Ile461Met) rs61736827
NM_001278074.1(COL5A1):c.1383C>T (p.Ile461=) rs61736827
NM_001278074.1(COL5A1):c.1384G>C (p.Glu462Gln) rs761770226
NM_001278074.1(COL5A1):c.1388C>T (p.Pro463Leu) rs201375465
NM_001278074.1(COL5A1):c.1389+7A>T rs1281999280
NM_001278074.1(COL5A1):c.1401C>T (p.Ile467=) rs1452745305
NM_001278074.1(COL5A1):c.1402G>A (p.Glu468Lys) rs754948598
NM_001278074.1(COL5A1):c.1429G>A (p.Ala477Thr) rs774936702
NM_001278074.1(COL5A1):c.1431+10C>T rs1176378428
NM_001278074.1(COL5A1):c.1431G>A (p.Ala477=) rs61729545
NM_001278074.1(COL5A1):c.1440C>T (p.Pro480=) rs150940930
NM_001278074.1(COL5A1):c.1442G>T (p.Gly481Val) rs1588488587
NM_001278074.1(COL5A1):c.145C>T (p.His49Tyr) rs372168541
NM_001278074.1(COL5A1):c.1462C>T (p.Pro488Ser) rs1238395732
NM_001278074.1(COL5A1):c.1476C>T (p.Val492=) rs141093527
NM_001278074.1(COL5A1):c.149A>G (p.Asn50Ser) rs79138021
NM_001278074.1(COL5A1):c.1503del (p.Gly502fs) rs1554792011
NM_001278074.1(COL5A1):c.1507C>T (p.Arg503Cys) rs781485753
NM_001278074.1(COL5A1):c.1508G>A (p.Arg503His) rs146716315
NM_001278074.1(COL5A1):c.1527C>T (p.Ala509=) rs746510456
NM_001278074.1(COL5A1):c.1539C>T (p.Pro513=) rs151173863
NM_001278074.1(COL5A1):c.1540G>A (p.Gly514Ser) rs878853652
NM_001278074.1(COL5A1):c.1561A>G (p.Met521Val) rs535161301
NM_001278074.1(COL5A1):c.1566G>A (p.Leu522=) rs61737941
NM_001278074.1(COL5A1):c.1569+6T>C rs1588502477
NM_001278074.1(COL5A1):c.1570-59T>C rs12686426
NM_001278074.1(COL5A1):c.1574G>A (p.Arg525Gln) rs375762619
NM_001278074.1(COL5A1):c.1590C>T (p.Gly530=) rs769010469
NM_001278074.1(COL5A1):c.1591G>A (p.Asp531Asn) rs779170635
NM_001278074.1(COL5A1):c.1595C>T (p.Ala532Val) rs369000939
NM_001278074.1(COL5A1):c.1637C>T (p.Ala546Val) rs557361751
NM_001278074.1(COL5A1):c.1638G>A (p.Ala546=) rs775508023
NM_001278074.1(COL5A1):c.1668A>G (p.Ala556=) rs750022273
NM_001278074.1(COL5A1):c.1701A>C (p.Thr567=) rs143647239
NM_001278074.1(COL5A1):c.1719+8A>T rs747192480
NM_001278074.1(COL5A1):c.1726C>T (p.Pro576Ser) rs763246328
NM_001278074.1(COL5A1):c.1734C>T (p.Ser578=) rs148094039
NM_001278074.1(COL5A1):c.1754C>T (p.Pro585Leu) rs530442560
NM_001278074.1(COL5A1):c.1774-7C>A rs371941850
NM_001278074.1(COL5A1):c.1780C>T (p.Arg594Ter) rs1554792869
NM_001278074.1(COL5A1):c.1787T>C (p.Val596Ala) rs754773665
NM_001278074.1(COL5A1):c.1797G>A (p.Pro599=) rs201463583
NM_001278074.1(COL5A1):c.1805C>T (p.Pro602Leu) rs749007253
NM_001278074.1(COL5A1):c.1809C>T (p.Ala603=) rs371345820
NM_001278074.1(COL5A1):c.1816C>T (p.Pro606Ser) rs1588506358
NM_001278074.1(COL5A1):c.1818C>T (p.Pro606=) rs761257919
NM_001278074.1(COL5A1):c.1831C>T (p.Arg611Trp) rs147329970
NM_001278074.1(COL5A1):c.1832G>A (p.Arg611Gln) rs200590188
NM_001278074.1(COL5A1):c.1850C>T (p.Ala617Val) rs1588508705
NM_001278074.1(COL5A1):c.186C>T (p.Cys62=) rs778516121
NM_001278074.1(COL5A1):c.1888C>T (p.Arg630Trp) rs577618553
NM_001278074.1(COL5A1):c.1899C>T (p.Asp633=) rs757951119
NM_001278074.1(COL5A1):c.191C>T (p.Thr64Met) rs777376620
NM_001278074.1(COL5A1):c.1920C>T (p.Gly640=) rs781663334
NM_001278074.1(COL5A1):c.1923G>T (p.Glu641Asp) rs780322561
NM_001278074.1(COL5A1):c.1926G>T (p.Lys642Asn) rs918992441
NM_001278074.1(COL5A1):c.1935+8T>G rs79195626
NM_001278074.1(COL5A1):c.1936-10C>T rs779506561
NM_001278074.1(COL5A1):c.1936-21G>A rs77716946
NM_001278074.1(COL5A1):c.193C>T (p.Arg65Trp) rs139468527
NM_001278074.1(COL5A1):c.194G>A (p.Arg65Gln) rs116003670
NM_001278074.1(COL5A1):c.1953C>T (p.Ser651=) rs78215347
NM_001278074.1(COL5A1):c.1970C>T (p.Pro657Leu) rs149912828
NM_001278074.1(COL5A1):c.197G>C (p.Arg66Pro) rs146074704
NM_001278074.1(COL5A1):c.1998C>T (p.Asp666=) rs143858735
NM_001278074.1(COL5A1):c.2030A>T (p.Glu677Val) rs1564443811
NM_001278074.1(COL5A1):c.2031G>A (p.Glu677=) rs61737719
NM_001278074.1(COL5A1):c.2034+1G>A rs886042173
NM_001278074.1(COL5A1):c.2042G>A (p.Arg681His) rs371580094
NM_001278074.1(COL5A1):c.2058G>A (p.Pro686=) rs143443499
NM_001278074.1(COL5A1):c.2088C>T (p.Pro696=) rs146757272
NM_001278074.1(COL5A1):c.2089-8G>A rs368595229
NM_001278074.1(COL5A1):c.2089-9C>T rs181246690
NM_001278074.1(COL5A1):c.2096C>T (p.Thr699Met) rs142313124
NM_001278074.1(COL5A1):c.2114C>T (p.Pro705Leu) rs375456811
NM_001278074.1(COL5A1):c.212C>T (p.Pro71Leu) rs779540528
NM_001278074.1(COL5A1):c.2140C>T (p.Gln714Ter) rs1554796176
NM_001278074.1(COL5A1):c.2143G>T (p.Gly715Ter) rs1060502258
NM_001278074.1(COL5A1):c.2155C>T (p.Pro719Ser) rs1564446104
NM_001278074.1(COL5A1):c.2164C>T (p.Gln722Ter) rs1564446117
NM_001278074.1(COL5A1):c.2174A>G (p.Asn725Ser) rs142612655
NM_001278074.1(COL5A1):c.2181C>T (p.Gly727=) rs201298716
NM_001278074.1(COL5A1):c.2182G>A (p.Ala728Thr) rs575535171
NM_001278074.1(COL5A1):c.2184C>A (p.Ala728=) rs150993138
NM_001278074.1(COL5A1):c.2187+4A>G rs919497204
NM_001278074.1(COL5A1):c.2203dup (p.Gln735fs) rs1057519596
NM_001278074.1(COL5A1):c.2222C>T (p.Pro741Leu) rs1422097890
NM_001278074.1(COL5A1):c.2232+4G>C rs1060502257
NM_001278074.1(COL5A1):c.2268C>T (p.Pro756=) rs367755808
NM_001278074.1(COL5A1):c.2269G>A (p.Gly757Ser) rs1464394247
NM_001278074.1(COL5A1):c.226_227AG[1] (p.Arg76fs) rs1060502242
NM_001278074.1(COL5A1):c.2281C>T (p.Pro761Ser) rs140486644
NM_001278074.1(COL5A1):c.2285C>T (p.Pro762Leu) rs138259992
NM_001278074.1(COL5A1):c.2310T>A (p.Pro770=) rs377123592
NM_001278074.1(COL5A1):c.2312C>G (p.Pro771Arg) rs1554797269
NM_001278074.1(COL5A1):c.2318A>T (p.Glu773Val) rs759963647
NM_001278074.1(COL5A1):c.2321A>C (p.Lys774Thr) rs1564449370
NM_001278074.1(COL5A1):c.2331+15C>T rs369093559
NM_001278074.1(COL5A1):c.2331+16G>A rs199654385
NM_001278074.1(COL5A1):c.2331+4G>C rs1588532335
NM_001278074.1(COL5A1):c.2331G>A (p.Gln777=) rs1588532322
NM_001278074.1(COL5A1):c.2354C>T (p.Pro785Leu) rs760539229
NM_001278074.1(COL5A1):c.2374C>T (p.Arg792Ter) rs121912933
NM_001278074.1(COL5A1):c.2386-3C>G rs1564453831
NM_001278074.1(COL5A1):c.2386-6G>A rs373383768
NM_001278074.1(COL5A1):c.2386-7C>T rs746845504
NM_001278074.1(COL5A1):c.2386-8C>A rs1588539610
NM_001278074.1(COL5A1):c.2390C>T (p.Ala797Val) rs745370910
NM_001278074.1(COL5A1):c.2391C>T (p.Ala797=) rs142347159
NM_001278074.1(COL5A1):c.2398A>G (p.Ile800Val) rs146870918
NM_001278074.1(COL5A1):c.240C>T (p.Asp80=) rs79724538
NM_001278074.1(COL5A1):c.2415C>T (p.Gly805=) rs769239532
NM_001278074.1(COL5A1):c.2425G>A (p.Glu809Lys) rs1032017865
NM_001278074.1(COL5A1):c.2425G>T (p.Glu809Ter) rs1032017865
NM_001278074.1(COL5A1):c.2430+1G>A rs1060502248
NM_001278074.1(COL5A1):c.2434G>A (p.Glu812Lys) rs1554798924
NM_001278074.1(COL5A1):c.2439C>T (p.Asp813=) rs148648778
NM_001278074.1(COL5A1):c.2451G>T (p.Gly817=) rs1554798928
NM_001278074.1(COL5A1):c.2464A>G (p.Met822Val) rs1060502262
NM_001278074.1(COL5A1):c.2484+1G>T rs1564455577
NM_001278074.1(COL5A1):c.2484+6C>T rs576976549
NM_001278074.1(COL5A1):c.2493C>T (p.Ile831=) rs199630108
NM_001278074.1(COL5A1):c.2497C>T (p.Pro833Ser) rs370547479
NM_001278074.1(COL5A1):c.2518G>C (p.Asp840His) rs1564457054
NM_001278074.1(COL5A1):c.252C>T (p.Ser84=) rs151293601
NM_001278074.1(COL5A1):c.2538G>A (p.Lys846=) rs751065864
NM_001278074.1(COL5A1):c.2543G>A (p.Arg848His) rs767925708
NM_001278074.1(COL5A1):c.2544C>A (p.Arg848=) rs201556585
NM_001278074.1(COL5A1):c.2555A>G (p.Asn852Ser) rs148146480
NM_001278074.1(COL5A1):c.2555A>T (p.Asn852Ile) rs148146480
NM_001278074.1(COL5A1):c.2564C>G (p.Pro855Arg) rs150539264
NM_001278074.1(COL5A1):c.2565del (p.Gly856fs) rs1564457102
NM_001278074.1(COL5A1):c.256C>T (p.Pro86Ser) rs1277995091
NM_001278074.1(COL5A1):c.2588A>T (p.Glu863Val) rs139788610
NM_001278074.1(COL5A1):c.2592+16C>G rs145429817
NM_001278074.1(COL5A1):c.2647-9C>G rs757930358
NM_001278074.1(COL5A1):c.266A>G (p.Gln89Arg) rs1554780187
NM_001278074.1(COL5A1):c.2676C>A (p.Gly892=) rs143161140
NM_001278074.1(COL5A1):c.2695G>A (p.Gly899Ser) rs149964491
NM_001278074.1(COL5A1):c.2700+2T>C rs1588551226
NM_001278074.1(COL5A1):c.2701-25T>G rs765079080
NM_001278074.1(COL5A1):c.2708C>T (p.Pro903Leu) rs780406577
NM_001278074.1(COL5A1):c.2722C>T (p.Pro908Ser) rs144985214
NM_001278074.1(COL5A1):c.2723C>T (p.Pro908Leu) rs772211736
NM_001278074.1(COL5A1):c.2724G>A (p.Pro908=) rs41310207
NM_001278074.1(COL5A1):c.2724G>C (p.Pro908=) rs41310207
NM_001278074.1(COL5A1):c.2734C>T (p.Arg912Ter) rs863223478
NM_001278074.1(COL5A1):c.2744C>T (p.Thr915Met) rs771090557
NM_001278074.1(COL5A1):c.2750C>T (p.Pro917Leu) rs375600865
NM_001278074.1(COL5A1):c.2751G>A (p.Pro917=) rs200319017
NM_001278074.1(COL5A1):c.2754G>A (p.Arg918=) rs776715400
NM_001278074.1(COL5A1):c.277+6T>G rs201910803
NM_001278074.1(COL5A1):c.278C>G (p.Ala93Gly) rs41306397
NM_001278074.1(COL5A1):c.278C>T (p.Ala93Val) rs41306397
NM_001278074.1(COL5A1):c.2799+4T>C rs75815945
NM_001278074.1(COL5A1):c.279G>A (p.Ala93=) rs145090868
NM_001278074.1(COL5A1):c.2809G>A (p.Gly937Arg) rs1330022009
NM_001278074.1(COL5A1):c.2812G>C (p.Gly938Arg) rs751950836
NM_001278074.1(COL5A1):c.2818G>A (p.Gly940Ser) rs1131691874
NM_001278074.1(COL5A1):c.2851A>C (p.Asn951His) rs1588560410
NM_001278074.1(COL5A1):c.2852A>G (p.Asn951Ser) rs61736966
NM_001278074.1(COL5A1):c.2892C>T (p.Gly964=) rs78511105
NM_001278074.1(COL5A1):c.2897del (p.Pro966fs) rs1179967153
NM_001278074.1(COL5A1):c.28C>T (p.Arg10Cys) rs1457110544
NM_001278074.1(COL5A1):c.2902C>G (p.Pro968Ala) rs1564466152
NM_001278074.1(COL5A1):c.2905C>G (p.Pro969Ala) rs759627305
NM_001278074.1(COL5A1):c.292G>A (p.Glu98Lys) rs369126350
NM_001278074.1(COL5A1):c.2931C>A (p.His977Gln) rs1564466171
NM_001278074.1(COL5A1):c.2946C>T (p.Gly982=) rs1060502253
NM_001278074.1(COL5A1):c.2947G>A (p.Glu983Lys) rs146348246
NM_001278074.1(COL5A1):c.2952+2_2952+3del rs1588562135
NM_001278074.1(COL5A1):c.295G>T (p.Asp99Tyr) rs774095835
NM_001278074.1(COL5A1):c.2971G>A (p.Gly991Ser) rs777368013
NM_001278074.1(COL5A1):c.297_304dup (p.Ile102fs) rs1588448655
NM_001278074.1(COL5A1):c.2983C>A (p.Pro995Thr) rs187022757
NM_001278074.1(COL5A1):c.2983C>G (p.Pro995Ala) rs187022757
NM_001278074.1(COL5A1):c.2988C>A (p.Pro996=) rs374409202
NM_001278074.1(COL5A1):c.2988del (p.Gly997fs) rs764693725
NM_001278074.1(COL5A1):c.2988dup (p.Gly997fs) rs764693725
NM_001278074.1(COL5A1):c.2991C>T (p.Gly997=) rs766208976
NM_001278074.1(COL5A1):c.2997C>T (p.Val999=) rs201897490
NM_001278074.1(COL5A1):c.3014C>T (p.Thr1005Met) rs201220311
NM_001278074.1(COL5A1):c.3015G>T (p.Thr1005=) rs751265351
NM_001278074.1(COL5A1):c.3023C>T (p.Thr1008Met) rs199735010
NM_001278074.1(COL5A1):c.3037G>A (p.Glu1013Lys) rs1060502249
NM_001278074.1(COL5A1):c.3059C>T (p.Pro1020Leu) rs1001786208
NM_001278074.1(COL5A1):c.3069C>T (p.Pro1023=) rs139070070
NM_001278074.1(COL5A1):c.3069dup (p.Gly1024fs) rs863223473
NM_001278074.1(COL5A1):c.3082C>T (p.Leu1028Phe) rs762810181
NM_001278074.1(COL5A1):c.3086C>T (p.Pro1029Leu) rs768531108
NM_001278074.1(COL5A1):c.3087G>A (p.Pro1029=) rs774035950
NM_001278074.1(COL5A1):c.3110C>T (p.Thr1037Met) rs150487609
NM_001278074.1(COL5A1):c.3115-10C>T rs1018752469
NM_001278074.1(COL5A1):c.3130G>A (p.Ala1044Thr) rs370143255
NM_001278074.1(COL5A1):c.3170G>A (p.Gly1057Asp) rs1554803568
NM_001278074.1(COL5A1):c.3184C>T (p.Arg1062Ter) rs387906606
NM_001278074.1(COL5A1):c.3185G>A (p.Arg1062Gln) rs771807198
NM_001278074.1(COL5A1):c.3203T>G (p.Val1068Gly) rs372109796
NM_001278074.1(COL5A1):c.3204+3G>A rs202054108
NM_001278074.1(COL5A1):c.3206dup (p.Ala1070Serfs) rs1554803622
NM_001278074.1(COL5A1):c.3233G>A (p.Gly1078Glu) rs1554803631
NM_001278074.1(COL5A1):c.3235C>T (p.Pro1079Ser) rs763310793
NM_001278074.1(COL5A1):c.3236C>T (p.Pro1079Leu) rs863223447
NM_001278074.1(COL5A1):c.3247C>T (p.Pro1083Ser) rs370321707
NM_001278074.1(COL5A1):c.3257C>T (p.Ala1086Val) rs774849517
NM_001278074.1(COL5A1):c.3258+7C>A rs750710374
NM_001278074.1(COL5A1):c.3258G>A (p.Ala1086=) rs372844807
NM_001278074.1(COL5A1):c.3259-8C>T rs146461106
NM_001278074.1(COL5A1):c.3260G>C (p.Gly1087Ala) rs559882772
NM_001278074.1(COL5A1):c.3263C>G (p.Ser1088Cys) rs1383949759
NM_001278074.1(COL5A1):c.3291C>T (p.Ala1097=) rs371821655
NM_001278074.1(COL5A1):c.3292G>A (p.Ala1098Thr) rs772521985
NM_001278074.1(COL5A1):c.3299C>T (p.Pro1100Leu) rs564375308
NM_001278074.1(COL5A1):c.3303C>A (p.Ile1101=) rs760754491
NM_001278074.1(COL5A1):c.3303C>T (p.Ile1101=) rs760754491
NM_001278074.1(COL5A1):c.3309_3325dup (p.Pro1109fs) rs1564471440
NM_001278074.1(COL5A1):c.3345G>A (p.Pro1115=) rs764683617
NM_001278074.1(COL5A1):c.3369C>T (p.Gly1123=) rs546229885
NM_001278074.1(COL5A1):c.3397C>T (p.Arg1133Ter) rs886042045
NM_001278074.1(COL5A1):c.3398G>A (p.Arg1133Gln) rs759580799
NM_001278074.1(COL5A1):c.3402C>T (p.Asp1134=) rs138251296
NM_001278074.1(COL5A1):c.3403G>A (p.Gly1135Ser) rs775559638
NM_001278074.1(COL5A1):c.3418G>A (p.Val1140Met) rs149616140
NM_001278074.1(COL5A1):c.341C>A (p.Ala114Asp) rs147589613
NM_001278074.1(COL5A1):c.3421G>C (p.Gly1141Arg) rs1269224473
NM_001278074.1(COL5A1):c.3428C>T (p.Pro1143Leu) rs540131206
NM_001278074.1(COL5A1):c.343T>A (p.Phe115Ile) rs1564396163
NM_001278074.1(COL5A1):c.3474+7C>T rs550497696
NM_001278074.1(COL5A1):c.3491C>T (p.Pro1164Leu) rs368305377
NM_001278074.1(COL5A1):c.34G>A (p.Ala12Thr) rs1160540030
NM_001278074.1(COL5A1):c.3510G>A (p.Lys1170=) rs543950268
NM_001278074.1(COL5A1):c.3529-1G>T rs1588577214
NM_001278074.1(COL5A1):c.353C>G (p.Ser118Cys) rs1554781494
NM_001278074.1(COL5A1):c.3551C>T (p.Pro1184Leu) rs749093832
NM_001278074.1(COL5A1):c.3562A>G (p.Ile1188Val) rs1588577285
NM_001278074.1(COL5A1):c.3573A>G (p.Pro1191=) rs564398230
NM_001278074.1(COL5A1):c.3584_3585delinsAT (p.Gly1195Asp) rs1060502247
NM_001278074.1(COL5A1):c.3591C>T (p.Asp1197=) rs370349155
NM_001278074.1(COL5A1):c.3592G>A (p.Gly1198Ser) rs372499629
NM_001278074.1(COL5A1):c.3594C>T (p.Gly1198=) rs146176718
NM_001278074.1(COL5A1):c.3595G>A (p.Glu1199Lys) rs867211079
NM_001278074.1(COL5A1):c.35C>A (p.Ala12Glu) rs995895784
NM_001278074.1(COL5A1):c.3627C>T (p.Phe1209=) rs748000980
NM_001278074.1(COL5A1):c.3656G>C (p.Gly1219Ala) rs1564475073
NM_001278074.1(COL5A1):c.3667C>T (p.Pro1223Ser) rs1411675246
NM_001278074.1(COL5A1):c.367C>G (p.Gln123Glu) rs142114921
NM_001278074.1(COL5A1):c.3684del (p.Leu1229fs) rs1564475090
NM_001278074.1(COL5A1):c.3690+6T>A rs375998368
NM_001278074.1(COL5A1):c.3691-9T>C rs187584029
NM_001278074.1(COL5A1):c.36G>C (p.Ala12=) rs1029930975
NM_001278074.1(COL5A1):c.3711C>T (p.Gly1237=) rs763583510
NM_001278074.1(COL5A1):c.3732C>T (p.Asp1244=) rs377422775
NM_001278074.1(COL5A1):c.3733G>A (p.Val1245Met) rs1435045393
NM_001278074.1(COL5A1):c.3750C>G (p.Pro1250=) rs192806271
NM_001278074.1(COL5A1):c.3752del (p.Pro1251fs) rs786205100
NM_001278074.1(COL5A1):c.3752dup (p.Pro1253fs) rs786205100
NM_001278074.1(COL5A1):c.3762del (p.Gly1255fs) rs1057518653
NM_001278074.1(COL5A1):c.3770G>A (p.Arg1257Gln) rs141768094
NM_001278074.1(COL5A1):c.378G>T (p.Gln126His) rs145178917
NM_001278074.1(COL5A1):c.37C>T (p.Leu13Phe) rs762625123
NM_001278074.1(COL5A1):c.3805C>T (p.Gln1269Ter) rs1554805142
NM_001278074.1(COL5A1):c.3812C>G (p.Pro1271Arg) rs771146636
NM_001278074.1(COL5A1):c.3812C>T (p.Pro1271Leu) rs771146636
NM_001278074.1(COL5A1):c.3852+10G>A rs749190469
NM_001278074.1(COL5A1):c.3852+9C>T rs548696863
NM_001278074.1(COL5A1):c.3855C>T (p.Gly1285=) rs139544503
NM_001278074.1(COL5A1):c.3864C>T (p.Gly1288=) rs551695730
NM_001278074.1(COL5A1):c.3868G>A (p.Ala1290Thr) rs863223451
NM_001278074.1(COL5A1):c.3887C>T (p.Pro1296Leu) rs771130127
NM_001278074.1(COL5A1):c.3888G>A (p.Pro1296=) rs375631252
NM_001278074.1(COL5A1):c.3905C>T (p.Pro1302Leu) rs201920777
NM_001278074.1(COL5A1):c.3906+10C>T rs183881247
NM_001278074.1(COL5A1):c.3906+15G>C rs370937109
NM_001278074.1(COL5A1):c.3906+3G>T rs786200922
NM_001278074.1(COL5A1):c.3906+7G>A rs200333878
NM_001278074.1(COL5A1):c.3911C>T (p.Pro1304Leu) rs1554805618
NM_001278074.1(COL5A1):c.3912C>T (p.Pro1304=) rs773909152
NM_001278074.1(COL5A1):c.3916G>A (p.Gly1306Arg) rs1588581652
NM_001278074.1(COL5A1):c.3921A>G (p.Glu1307=) rs1322220087
NM_001278074.1(COL5A1):c.3936C>T (p.Gly1312=) rs367804791
NM_001278074.1(COL5A1):c.3939G>T (p.Glu1313Asp) rs886063676
NM_001278074.1(COL5A1):c.3983C>G (p.Pro1328Arg) rs140797509
NM_001278074.1(COL5A1):c.3988G>A (p.Gly1330Arg) rs1060502254
NM_001278074.1(COL5A1):c.3991G>A (p.Asp1331Asn) rs545973022
NM_001278074.1(COL5A1):c.3999T>C (p.Gly1333=) rs1554805651
NM_001278074.1(COL5A1):c.4039C>T (p.Pro1347Ser) rs769470285
NM_001278074.1(COL5A1):c.4043G>C (p.Gly1348Ala) rs1060502252
NM_001278074.1(COL5A1):c.4044C>T (p.Gly1348=) rs369945188
NM_001278074.1(COL5A1):c.4050C>A (p.Pro1350=) rs773853291
NM_001278074.1(COL5A1):c.4065C>T (p.Pro1355=) rs61737906
NM_001278074.1(COL5A1):c.4066G>A (p.Ala1356Thr) rs147868179
NM_001278074.1(COL5A1):c.4067C>T (p.Ala1356Val) rs766796504
NM_001278074.1(COL5A1):c.4068+7G>A rs587780905
NM_001278074.1(COL5A1):c.4068G>A (p.Ala1356=) rs863223452
NM_001278074.1(COL5A1):c.4069-1G>T rs1564478485
NM_001278074.1(COL5A1):c.406C>T (p.Pro136Ser) rs777625241
NM_001278074.1(COL5A1):c.408C>T (p.Pro136=) rs376435758
NM_001278074.1(COL5A1):c.409G>A (p.Val137Ile) rs145757313
NM_001278074.1(COL5A1):c.4121C>T (p.Thr1374Met) rs151115748
NM_001278074.1(COL5A1):c.4122G>A (p.Thr1374=) rs3827848
NM_001278074.1(COL5A1):c.4126dup (p.Ser1376fs) rs1131691820
NM_001278074.1(COL5A1):c.4135C>T (p.Pro1379Ser) rs61739195
NM_001278074.1(COL5A1):c.4144G>A (p.Glu1382Lys) rs1554806121
NM_001278074.1(COL5A1):c.4158G>A (p.Ser1386=) rs1383677988
NM_001278074.1(COL5A1):c.4162C>T (p.Pro1388Ser) rs61737942
NM_001278074.1(COL5A1):c.4172A>G (p.Lys1391Arg) rs201801000
NM_001278074.1(COL5A1):c.4175G>A (p.Arg1392Lys) rs863223479
NM_001278074.1(COL5A1):c.4177-107T>C rs7854010
NM_001278074.1(COL5A1):c.417C>T (p.Leu139=) rs138687282
NM_001278074.1(COL5A1):c.4188C>T (p.Gly1396=) rs145363211
NM_001278074.1(COL5A1):c.4192G>A (p.Ala1398Thr) rs759464073
NM_001278074.1(COL5A1):c.4192G>T (p.Ala1398Ser) rs759464073
NM_001278074.1(COL5A1):c.4197C>T (p.Gly1399=) rs1397888531
NM_001278074.1(COL5A1):c.4200C>T (p.Pro1400=) rs752468183
NM_001278074.1(COL5A1):c.4203del (p.Gly1402fs) rs1060502255
NM_001278074.1(COL5A1):c.4212G>C (p.Gln1404His) rs1554806295
NM_001278074.1(COL5A1):c.4230+103T>C rs11792894
NM_001278074.1(COL5A1):c.4230+118C>T rs7847840
NM_001278074.1(COL5A1):c.4230+5C>T rs142248898
NM_001278074.1(COL5A1):c.4230+6G>A rs77176843
NM_001278074.1(COL5A1):c.4231-12G>A rs188473199
NM_001278074.1(COL5A1):c.4231-9G>A rs570545638
NM_001278074.1(COL5A1):c.4238C>A (p.Ala1413Asp) rs1564480902
NM_001278074.1(COL5A1):c.4240G>A (p.Gly1414Ser) rs776709663
NM_001278074.1(COL5A1):c.4275C>G (p.Ile1425Met) rs767372665
NM_001278074.1(COL5A1):c.4275C>T (p.Ile1425=) rs767372665
NM_001278074.1(COL5A1):c.4276G>A (p.Gly1426Ser) rs374868484
NM_001278074.1(COL5A1):c.4297A>G (p.Lys1433Glu) rs1554806543
NM_001278074.1(COL5A1):c.4302C>T (p.Pro1434=) rs755495352
NM_001278074.1(COL5A1):c.4307C>T (p.Pro1436Leu) rs752334702
NM_001278074.1(COL5A1):c.431C>A (p.Thr144Lys) rs561761305
NM_001278074.1(COL5A1):c.431C>T (p.Thr144Met) rs561761305
NM_001278074.1(COL5A1):c.431_432delinsAT (p.Thr144Asn) rs864622040
NM_001278074.1(COL5A1):c.4333C>T (p.Pro1445Ser) rs757989702
NM_001278074.1(COL5A1):c.4338+1G>A rs1564481053
NM_001278074.1(COL5A1):c.4339-3C>G rs545993723
NM_001278074.1(COL5A1):c.4351C>A (p.Leu1451Ile) rs369740453
NM_001278074.1(COL5A1):c.4358G>T (p.Gly1453Val) rs1588587440
NM_001278074.1(COL5A1):c.4370C>T (p.Pro1457Leu) rs201875250
NM_001278074.1(COL5A1):c.4371G>A (p.Pro1457=) rs756096066
NM_001278074.1(COL5A1):c.4374C>T (p.Asp1458=) rs201335857
NM_001278074.1(COL5A1):c.4378C>A (p.Pro1460Thr) rs773125713
NM_001278074.1(COL5A1):c.4383C>T (p.Pro1461=) rs368551709
NM_001278074.1(COL5A1):c.4393-17C>T rs141152269
NM_001278074.1(COL5A1):c.4393-9C>T rs11792181
NM_001278074.1(COL5A1):c.4410C>T (p.Pro1470=) rs41310953
NM_001278074.1(COL5A1):c.4423G>C (p.Asp1475His) rs1554806674
NM_001278074.1(COL5A1):c.4433C>T (p.Pro1478Leu) rs377062537
NM_001278074.1(COL5A1):c.446C>T (p.Pro149Leu) rs369971694
NM_001278074.1(COL5A1):c.460C>T (p.Leu154Phe) rs1554781521
NM_001278074.1(COL5A1):c.467G>A (p.Arg156Gln) rs770896795
NM_001278074.1(COL5A1):c.484G>C (p.Asp162His) rs1564396342
NM_001278074.1(COL5A1):c.491+3A>C rs1554781526
NM_001278074.1(COL5A1):c.491+9G>A rs752150900
NM_001278074.1(COL5A1):c.492-3C>T rs1027866868
NM_001278074.1(COL5A1):c.494G>A (p.Trp165Ter) rs1588449879
NM_001278074.1(COL5A1):c.502A>G (p.Ile168Val) rs112858705
NM_001278074.1(COL5A1):c.514G>A (p.Val172Ile) rs150147262
NM_001278074.1(COL5A1):c.514G>T (p.Val172Phe) rs150147262
NM_001278074.1(COL5A1):c.515T>A (p.Val172Asp) rs1554781678
NM_001278074.1(COL5A1):c.526A>C (p.Asn176His) rs369396868
NM_001278074.1(COL5A1):c.52C>T (p.Pro18Ser) rs1060502260
NM_001278074.1(COL5A1):c.548G>A (p.Cys183Tyr) rs1060502251
NM_001278074.1(COL5A1):c.573C>T (p.Leu191=) rs116715381
NM_001278074.1(COL5A1):c.574G>A (p.Asp192Asn) rs138579182
NM_001278074.1(COL5A1):c.583G>A (p.Asp195Asn) rs781248560
NM_001278074.1(COL5A1):c.597C>G (p.Ile199Met) rs147008954
NM_001278074.1(COL5A1):c.598G>A (p.Asp200Asn) rs142890619
NM_001278074.1(COL5A1):c.603C>T (p.Ile201=) rs747624923
NM_001278074.1(COL5A1):c.610A>G (p.Ile204Val) rs1060502245
NM_001278074.1(COL5A1):c.61C>T (p.Pro21Ser) rs548525119
NM_001278074.1(COL5A1):c.655-1917_690del
NM_001278074.1(COL5A1):c.655-2A>G rs786205101
NM_001278074.1(COL5A1):c.65C>G (p.Pro22Arg) rs863223467
NM_001278074.1(COL5A1):c.668A>G (p.Gln223Arg) rs1554787531
NM_001278074.1(COL5A1):c.67_69CTG[5] (p.Leu28del) rs773994971
NM_001278074.1(COL5A1):c.67_69CTG[7] (p.Leu28dup) rs773994971
NM_001278074.1(COL5A1):c.680T>C (p.Val227Ala) rs376144196
NM_001278074.1(COL5A1):c.683C>T (p.Ser228Leu) rs770737485
NM_001278074.1(COL5A1):c.684G>A (p.Ser228=) rs139705205
NM_001278074.1(COL5A1):c.691C>T (p.Arg231Trp) rs775853003
NM_001278074.1(COL5A1):c.692G>A (p.Arg231Gln) rs373597685
NM_001278074.1(COL5A1):c.710G>A (p.Cys237Tyr) rs1588475947
NM_001278074.1(COL5A1):c.723C>T (p.Ser241=) rs1554787555
NM_001278074.1(COL5A1):c.727G>A (p.Asp243Asn) rs758431206
NM_001278074.1(COL5A1):c.735C>T (p.Asp245=) rs746769184
NM_001278074.1(COL5A1):c.739G>A (p.Ala247Thr) rs769115550
NM_001278074.1(COL5A1):c.753C>A (p.Thr251=) rs374813957
NM_001278074.1(COL5A1):c.754C>T (p.Pro252Ser) rs369781295
NM_001278074.1(COL5A1):c.761C>T (p.Ser254Leu) rs144844792
NM_001278074.1(COL5A1):c.787-15G>A rs150200872
NM_001278074.1(COL5A1):c.787-9C>G rs751472921
NM_001278074.1(COL5A1):c.787-9C>T rs751472921
NM_001278074.1(COL5A1):c.790A>C (p.Thr264Pro) rs863223440
NM_001278074.1(COL5A1):c.792G>A (p.Thr264=) rs757360763
NM_001278074.1(COL5A1):c.803G>T (p.Gly268Val) rs145552797
NM_001278074.1(COL5A1):c.805G>A (p.Glu269Lys) rs761079177
NM_001278074.1(COL5A1):c.825C>T (p.Tyr275=) rs771253587
NM_001278074.1(COL5A1):c.850G>A (p.Glu284Lys) rs75648697
NM_001278074.1(COL5A1):c.860G>A (p.Gly287Glu) rs1588477287
NM_001278074.1(COL5A1):c.868C>T (p.Pro290Ser) rs754640324
NM_001278074.1(COL5A1):c.921C>T (p.Pro307=) rs144335980
NM_001278074.1(COL5A1):c.922G>A (p.Glu308Lys) rs770173348
NM_001278074.1(COL5A1):c.924+14G>A rs200595318
NM_001278074.1(COL5A1):c.925-44C>T rs41302966
NM_001278074.1(COL5A1):c.92C>A (p.Pro31Gln) rs1410664123
NM_001278074.1(COL5A1):c.934C>G (p.Pro312Ala) rs140105243
NM_001278074.1(COL5A1):c.935C>T (p.Pro312Leu) rs367726185
NM_001278074.1(COL5A1):c.944C>T (p.Thr315Met) rs145093766
NM_001278074.1(COL5A1):c.983G>A (p.Gly328Glu) rs576742644
NM_001278074.1(COL5A1):c.996C>T (p.Asp332=) rs144763302

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