ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome, classic type by Invitae

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1312
Download table as spreadsheet
HGVS dbSNP
NC_000002.12:g.(?_189078506)_(189081053_?)del
NC_000002.12:g.(?_189100087)_(189100159_?)del
NC_000007.13:g.(?_94037139)_(94037712_?)dup
NC_000007.13:g.(?_94037139)_(94038155_?)dup
NC_000007.14:g.(?_94395012)_(94395818_?)del
NC_000007.14:g.(?_94395012)_(94399104_?)del
NC_000007.14:g.(?_94395022)_(94585525_?)dup
NC_000009.11:g.(?_134379574)_(138678377_?)dup
NC_000009.11:g.(?_137533651)_(137534142_?)dup
NC_000009.11:g.(?_137582738)_(137593199_?)dup
NC_000009.11:g.(?_137721802)_(137734169_?)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.(?_134701171)_(134835204_?)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.(?_134834951)_(134835224_?)del
NC_000009.12:g.(?_134842137)_(134842323_?)del
NC_000009.12:g.(?_134842147)_(134842313_?)del
NC_000009.12:g.134785996dup
NM_000089.3(COL1A2):c.1009G>A (p.Gly337Ser) rs67865220
NM_000089.3(COL1A2):c.1036-3T>C rs370275593
NM_000089.3(COL1A2):c.1045G>T (p.Gly349Cys) rs66773001
NM_000089.3(COL1A2):c.1048C>T (p.Pro350Ser) rs201463779
NM_000089.3(COL1A2):c.1072G>A (p.Gly358Ser) rs66619856
NM_000089.3(COL1A2):c.1127G>T (p.Gly376Val) rs67543427
NM_000089.3(COL1A2):c.1148C>A (p.Pro383His) rs193922159
NM_000089.3(COL1A2):c.1208G>T (p.Gly403Val) rs1554396271
NM_000089.3(COL1A2):c.1228G>T (p.Ala410Ser) rs1235071648
NM_000089.3(COL1A2):c.122G>A (p.Arg41His) rs139528613
NM_000089.3(COL1A2):c.1246G>A (p.Val416Ile) rs550867796
NM_000089.3(COL1A2):c.1295G>A (p.Arg432Gln) rs139446305
NM_000089.3(COL1A2):c.1324G>A (p.Gly442Arg) rs1554396361
NM_000089.3(COL1A2):c.133-3C>A rs1562897561
NM_000089.3(COL1A2):c.1342G>C (p.Gly448Arg) rs1584320605
NM_000089.3(COL1A2):c.1378G>A (p.Gly460Ser) rs72658118
NM_000089.3(COL1A2):c.1383C>T (p.Pro461=) rs139726213
NM_000089.3(COL1A2):c.138A>C (p.Pro46=) rs148639088
NM_000089.3(COL1A2):c.1404+4A>C rs369907691
NM_000089.3(COL1A2):c.1474A>T (p.Ile492Phe) rs776551401
NM_000089.3(COL1A2):c.1477G>C (p.Gly493Arg) rs1554396612
NM_000089.3(COL1A2):c.1478G>A (p.Gly493Glu) rs72658121
NM_000089.3(COL1A2):c.1503+1G>C rs1554396615
NM_000089.3(COL1A2):c.1513G>A (p.Gly505Ser) rs1554396679
NM_000089.3(COL1A2):c.1514G>C (p.Gly505Ala) rs1554396680
NM_000089.3(COL1A2):c.1522G>A (p.Gly508Ser) rs769600024
NM_000089.3(COL1A2):c.1576G>A (p.Gly526Arg) rs72658129
NM_000089.3(COL1A2):c.1654C>T (p.Pro552Ser) rs763695362
NM_000089.3(COL1A2):c.1666G>T (p.Gly556Cys) rs1554396832
NM_000089.3(COL1A2):c.1710A>T (p.Pro570=) rs373341681
NM_000089.3(COL1A2):c.1748G>C (p.Gly583Ala) rs1554396983
NM_000089.3(COL1A2):c.1780C>G (p.Pro594Ala) rs1396856908
NM_000089.3(COL1A2):c.1801G>A (p.Gly601Ser) rs72658143
NM_000089.3(COL1A2):c.1817T>C (p.Ile606Thr) rs757262502
NM_000089.3(COL1A2):c.1876G>A (p.Val626Met) rs374878685
NM_000089.3(COL1A2):c.1892G>T (p.Gly631Val) rs1584324507
NM_000089.3(COL1A2):c.1908T>A (p.Ser636=) rs1584324517
NM_000089.3(COL1A2):c.1964G>A (p.Gly655Glu) rs1554397275
NM_000089.3(COL1A2):c.1971+3A>T rs756587993
NM_000089.3(COL1A2):c.1971+5G>A rs375027186
NM_000089.3(COL1A2):c.1971+6T>C rs1345215762
NM_000089.3(COL1A2):c.1976A>G (p.Glu659Gly) rs766488808
NM_000089.3(COL1A2):c.2023C>T (p.Arg675Cys) rs778295967
NM_000089.3(COL1A2):c.2025+9A>G rs368837694
NM_000089.3(COL1A2):c.2078G>A (p.Arg693Gln) rs34147460
NM_000089.3(COL1A2):c.2079+3A>G rs1226079110
NM_000089.3(COL1A2):c.2082C>A (p.Gly694=) rs193229878
NM_000089.3(COL1A2):c.2098G>C (p.Gly700Arg) rs72658160
NM_000089.3(COL1A2):c.2098G>T (p.Gly700Cys) rs72658160
NM_000089.3(COL1A2):c.2123G>A (p.Arg708Gln) rs72658163
NM_000089.3(COL1A2):c.2123G>C (p.Arg708Pro) rs72658163
NM_000089.3(COL1A2):c.2133+6T>A rs72658164
NM_000089.3(COL1A2):c.2133+8A>C rs1554397570
NM_000089.3(COL1A2):c.2148_2156delinsACGTGG (p.Val717_Pro719delinsArgGly) rs1584326175
NM_000089.3(COL1A2):c.2163C>T (p.Gly721=) rs150670521
NM_000089.3(COL1A2):c.2168A>G (p.Asn723Ser) rs189374343
NM_000089.3(COL1A2):c.2168A>T (p.Asn723Ile) rs189374343
NM_000089.3(COL1A2):c.2242G>A (p.Gly748Ser) rs1562905246
NM_000089.3(COL1A2):c.226-2A>G rs72656355
NM_000089.3(COL1A2):c.2260G>T (p.Gly754Cys) rs72658177
NM_000089.3(COL1A2):c.2274C>T (p.Pro758=) rs541912705
NM_000089.3(COL1A2):c.2275G>A (p.Val759Ile) rs200501072
NM_000089.3(COL1A2):c.2278G>A (p.Gly760Arg) rs1584326393
NM_000089.3(COL1A2):c.2313C>T (p.Pro771=) rs144837722
NM_000089.3(COL1A2):c.2314G>A (p.Gly772Ser) rs72658185
NM_000089.3(COL1A2):c.2329C>T (p.Arg777Cys) rs779108678
NM_000089.3(COL1A2):c.2424T>C (p.Gly808=) rs766541855
NM_000089.3(COL1A2):c.2425C>T (p.Pro809Ser) rs145355907
NM_000089.3(COL1A2):c.2441G>A (p.Gly814Glu) rs1554397975
NM_000089.3(COL1A2):c.2456G>A (p.Arg819His) rs773985005
NM_000089.3(COL1A2):c.2521G>A (p.Gly841Ser) rs72658194
NM_000089.3(COL1A2):c.2527G>A (p.Ala843Thr) rs112697991
NM_000089.3(COL1A2):c.2531G>C (p.Gly844Ala) rs928361235
NM_000089.3(COL1A2):c.2565+1G>A rs72658198
NM_000089.3(COL1A2):c.2566-6A>G rs141088934
NM_000089.3(COL1A2):c.2596C>G (p.Leu866Val) rs538945650
NM_000089.3(COL1A2):c.2663C>G (p.Ala888Gly) rs752453618
NM_000089.3(COL1A2):c.2673+10T>A rs747098214
NM_000089.3(COL1A2):c.2700C>T (p.Ala900=) rs141688356
NM_000089.3(COL1A2):c.2713G>T (p.Ala905Ser) rs1344095248
NM_000089.3(COL1A2):c.2717G>A (p.Arg906His) rs147063981
NM_000089.3(COL1A2):c.2719G>A (p.Gly907Ser) rs1554398251
NM_000089.3(COL1A2):c.2754C>T (p.Asn918=) rs375719762
NM_000089.3(COL1A2):c.2756G>A (p.Gly919Asp) rs1554398261
NM_000089.3(COL1A2):c.279+2T>C rs72656357
NM_000089.3(COL1A2):c.2796C>T (p.Asn932=) rs757671800
NM_000089.3(COL1A2):c.279G>A (p.Met93Ile) rs72656356
NM_000089.3(COL1A2):c.280-8C>T rs371996944
NM_000089.3(COL1A2):c.2835+1G>A rs72659310
NM_000089.3(COL1A2):c.2842C>A (p.Arg948Ser) rs779303344
NM_000089.3(COL1A2):c.2843G>A (p.Arg948His) rs201168934
NM_000089.3(COL1A2):c.2853T>C (p.Pro951=) rs148362963
NM_000089.3(COL1A2):c.2861T>C (p.Ile954Thr) rs538844573
NM_000089.3(COL1A2):c.286A>G (p.Met96Val) rs763509640
NM_000089.3(COL1A2):c.2904C>T (p.Pro968=) rs142352627
NM_000089.3(COL1A2):c.292C>T (p.Pro98Ser) rs765868569
NM_000089.3(COL1A2):c.2943+1G>C rs1562907190
NM_000089.3(COL1A2):c.2957C>T (p.Pro986Leu) rs768171831
NM_000089.3(COL1A2):c.2960T>C (p.Val987Ala) rs1584330105
NM_000089.3(COL1A2):c.2968G>T (p.Ala990Ser) rs367848162
NM_000089.3(COL1A2):c.298G>A (p.Gly100Ser) rs1410254723
NM_000089.3(COL1A2):c.2997+6T>A rs1584330154
NM_000089.3(COL1A2):c.299G>T (p.Gly100Val) rs1584315950
NM_000089.3(COL1A2):c.3014G>A (p.Arg1005His) rs200357942
NM_000089.3(COL1A2):c.3018C>T (p.Gly1006=) rs62001059
NM_000089.3(COL1A2):c.3047C>A (p.Pro1016His) rs377278762
NM_000089.3(COL1A2):c.304C>T (p.Pro102Ser) rs189557655
NM_000089.3(COL1A2):c.3102C>T (p.Ile1034=) rs768455635
NM_000089.3(COL1A2):c.3106G>T (p.Gly1036Cys) rs72659325
NM_000089.3(COL1A2):c.3139G>A (p.Val1047Met) rs35820023
NM_000089.3(COL1A2):c.3209A>C (p.His1070Pro) rs767399660
NM_000089.3(COL1A2):c.3260G>T (p.Gly1087Val) rs72659335
NM_000089.3(COL1A2):c.3311G>A (p.Ser1104Asn) rs771438684
NM_000089.3(COL1A2):c.3313G>A (p.Gly1105Ser) rs139851311
NM_000089.3(COL1A2):c.3319G>T (p.Gly1107Cys) rs745396382
NM_000089.3(COL1A2):c.3336C>T (p.Tyr1112=) rs34691365
NM_000089.3(COL1A2):c.3338A>C (p.Asp1113Ala) rs1562908093
NM_000089.3(COL1A2):c.334G>A (p.Gly112Ser) rs1554395411
NM_000089.3(COL1A2):c.3368G>A (p.Arg1123His) rs145541630
NM_000089.3(COL1A2):c.3368G>T (p.Arg1123Leu) rs145541630
NM_000089.3(COL1A2):c.3495C>G (p.Asp1165Glu) rs72659340
NM_000089.3(COL1A2):c.3526+4G>A rs1284156162
NM_000089.3(COL1A2):c.3566A>G (p.Asp1189Gly) rs754575611
NM_000089.3(COL1A2):c.3614G>A (p.Arg1205Gln) rs73428220
NM_000089.3(COL1A2):c.3632T>C (p.Ile1211Thr) rs201746779
NM_000089.3(COL1A2):c.3656G>A (p.Ser1219Asn) rs1554398702
NM_000089.3(COL1A2):c.3673C>T (p.His1225Tyr) rs535142482
NM_000089.3(COL1A2):c.378+6T>C rs752336890
NM_000089.3(COL1A2):c.3815G>C (p.Cys1272Ser) rs1554398835
NM_000089.3(COL1A2):c.3835A>G (p.Met1279Val) rs775850964
NM_000089.3(COL1A2):c.3849T>C (p.Thr1283=) rs34038163
NM_000089.3(COL1A2):c.3853A>C (p.Asn1285His) rs144797861
NM_000089.3(COL1A2):c.389G>A (p.Gly130Asp) rs72656360
NM_000089.3(COL1A2):c.3941T>C (p.Val1314Ala) rs1421507234
NM_000089.3(COL1A2):c.3954+8A>G rs747626670
NM_000089.3(COL1A2):c.398G>T (p.Gly133Val) rs1562899031
NM_000089.3(COL1A2):c.4036C>T (p.Pro1346Ser) rs369008932
NM_000089.3(COL1A2):c.4063G>T (p.Glu1355Ter) rs760626067
NM_000089.3(COL1A2):c.430G>A (p.Asp144Asn) rs981008420
NM_000089.3(COL1A2):c.432+1G>A rs1554395431
NM_000089.3(COL1A2):c.433-2A>C rs1554395471
NM_000089.3(COL1A2):c.433-2A>G rs1554395471
NM_000089.3(COL1A2):c.48C>T (p.Thr16=) rs780687409
NM_000089.3(COL1A2):c.52T>C (p.Cys18Arg) rs200278401
NM_000089.3(COL1A2):c.52T>G (p.Cys18Gly) rs200278401
NM_000089.3(COL1A2):c.577G>A (p.Gly193Ser) rs72656370
NM_000089.3(COL1A2):c.582T>G (p.Ala194=) rs144540908
NM_000089.3(COL1A2):c.586G>A (p.Gly196Ser) rs1057517953
NM_000089.3(COL1A2):c.595-2A>G rs72656375
NM_000089.3(COL1A2):c.638_639+6del rs1562900123
NM_000089.3(COL1A2):c.647G>A (p.Arg216His) rs756743425
NM_000089.3(COL1A2):c.671G>A (p.Arg224His) rs771139732
NM_000089.3(COL1A2):c.70+8C>T rs982206007
NM_000089.3(COL1A2):c.701G>A (p.Arg234His) rs376341785
NM_000089.3(COL1A2):c.731G>A (p.Gly244Asp) rs1584318303
NM_000089.3(COL1A2):c.749G>T (p.Gly250Val) rs1562900513
NM_000089.3(COL1A2):c.767G>T (p.Gly256Val) rs67525025
NM_000089.3(COL1A2):c.781C>A (p.Pro261Thr) rs141075408
NM_000089.3(COL1A2):c.781C>G (p.Pro261Ala) rs141075408
NM_000089.3(COL1A2):c.784G>C (p.Gly262Arg) rs1554395970
NM_000089.3(COL1A2):c.808G>A (p.Val270Ile) rs368468
NM_000089.3(COL1A2):c.838G>A (p.Gly280Ser) rs72656387
NM_000089.3(COL1A2):c.874G>A (p.Gly292Ser) rs906553840
NM_000089.3(COL1A2):c.880G>A (p.Val294Ile) rs145693444
NM_000089.3(COL1A2):c.888T>G (p.Pro296=) rs1554396039
NM_000089.3(COL1A2):c.920G>A (p.Gly307Asp) rs72656390
NM_000089.3(COL1A2):c.946G>A (p.Gly316Ser) rs72656392
NM_000089.3(COL1A2):c.948C>T (p.Gly316=) rs34511999
NM_000089.3(COL1A2):c.949G>A (p.Val317Ile) rs142803502
NM_000089.3(COL1A2):c.956G>A (p.Gly319Glu) rs1554396083
NM_000089.3(COL1A2):c.96+10C>T rs185341110
NM_000089.3(COL1A2):c.964G>A (p.Gly322Ser) rs72656394
NM_000089.3(COL1A2):c.975A>T (p.Gly325=) rs148063325
NM_000089.3(COL1A2):c.981C>T (p.Arg327=) rs141762645
NM_000089.3(COL1A2):c.982G>A (p.Gly328Ser) rs66612022
NM_000089.4(COL1A2):c.1006G>T (p.Ala336Ser)
NM_000089.4(COL1A2):c.1015A>G (p.Thr339Ala)
NM_000089.4(COL1A2):c.1041G>A (p.Glu347=) rs1584319702
NM_000089.4(COL1A2):c.1086G>A (p.Glu362=) rs200284501
NM_000089.4(COL1A2):c.1089C>G (p.Pro363=)
NM_000089.4(COL1A2):c.1101G>A (p.Gly367=) rs1800237
NM_000089.4(COL1A2):c.1107A>G (p.Gln369=)
NM_000089.4(COL1A2):c.1171G>T (p.Gly391Cys)
NM_000089.4(COL1A2):c.1270G>A (p.Gly424Ser)
NM_000089.4(COL1A2):c.1277G>T (p.Ser426Ile)
NM_000089.4(COL1A2):c.1289G>A (p.Gly430Glu)
NM_000089.4(COL1A2):c.1326G>T (p.Gly442=)
NM_000089.4(COL1A2):c.1331C>T (p.Pro444Leu)
NM_000089.4(COL1A2):c.1340T>A (p.Met447Lys)
NM_000089.4(COL1A2):c.1391_1393AAG[1] (p.Glu465del)
NM_000089.4(COL1A2):c.1402G>A (p.Val468Ile)
NM_000089.4(COL1A2):c.1459G>A (p.Gly487Arg)
NM_000089.4(COL1A2):c.1464G>T (p.Glu488Asp)
NM_000089.4(COL1A2):c.1503+1G>A
NM_000089.4(COL1A2):c.150A>C (p.Pro50=) rs369695645
NM_000089.4(COL1A2):c.1516A>C (p.Lys506Gln)
NM_000089.4(COL1A2):c.1535_1543dup (p.His512_Gly514dup)
NM_000089.4(COL1A2):c.1536T>G (p.His512Gln)
NM_000089.4(COL1A2):c.1573G>T (p.Asp525Tyr)
NM_000089.4(COL1A2):c.1583A>G (p.Asn528Ser)
NM_000089.4(COL1A2):c.1607C>T (p.Pro536Leu)
NM_000089.4(COL1A2):c.1645C>T (p.Pro549Ser)
NM_000089.4(COL1A2):c.1764+1G>T
NM_000089.4(COL1A2):c.1820G>C (p.Gly607Ala)
NM_000089.4(COL1A2):c.1825C>A (p.Arg609=) rs765398195
NM_000089.4(COL1A2):c.1837G>A (p.Gly613Arg)
NM_000089.4(COL1A2):c.1844C>T (p.Pro615Leu)
NM_000089.4(COL1A2):c.1915A>G (p.Ser639Gly)
NM_000089.4(COL1A2):c.2024G>A (p.Arg675His)
NM_000089.4(COL1A2):c.2026-1_2042dup rs1584325529
NM_000089.4(COL1A2):c.2063G>A (p.Gly688Glu)
NM_000089.4(COL1A2):c.2188G>A (p.Gly730Ser)
NM_000089.4(COL1A2):c.2215G>A (p.Gly739Arg)
NM_000089.4(COL1A2):c.2250C>T (p.Asn750=) rs372783567
NM_000089.4(COL1A2):c.2252G>T (p.Gly751Val)
NM_000089.4(COL1A2):c.226-6C>A rs199616511
NM_000089.4(COL1A2):c.2279G>T (p.Gly760Val)
NM_000089.4(COL1A2):c.2296G>C (p.Gly766Arg)
NM_000089.4(COL1A2):c.2305G>T (p.Gly769Cys)
NM_000089.4(COL1A2):c.2330G>A (p.Arg777His)
NM_000089.4(COL1A2):c.2341G>C (p.Gly781Arg)
NM_000089.4(COL1A2):c.2403+7A>G rs751913918
NM_000089.4(COL1A2):c.2422G>A (p.Gly808Ser)
NM_000089.4(COL1A2):c.2465G>A (p.Arg822His)
NM_000089.4(COL1A2):c.2508A>G (p.Ala836=)
NM_000089.4(COL1A2):c.2565+1G>C
NM_000089.4(COL1A2):c.2565+3_2565+6del rs1584328061
NM_000089.4(COL1A2):c.2645G>A (p.Arg882His)
NM_000089.4(COL1A2):c.2674-3T>G
NM_000089.4(COL1A2):c.2746G>A (p.Gly916Arg)
NM_000089.4(COL1A2):c.2791G>A (p.Gly931Arg)
NM_000089.4(COL1A2):c.2799T>C (p.Asp933=) rs751960243
NM_000089.4(COL1A2):c.2826C>T (p.Pro942=) rs199580542
NM_000089.4(COL1A2):c.2842C>T (p.Arg948Cys)
NM_000089.4(COL1A2):c.2844C>T (p.Arg948=) rs772555004
NM_000089.4(COL1A2):c.287T>A (p.Met96Lys)
NM_000089.4(COL1A2):c.2933G>A (p.Arg978His)
NM_000089.4(COL1A2):c.2944G>A (p.Gly982Ser)
NM_000089.4(COL1A2):c.2959G>A (p.Val987Ile)
NM_000089.4(COL1A2):c.2967T>C (p.Pro989=) rs201760437
NM_000089.4(COL1A2):c.2969C>A (p.Ala990Asp)
NM_000089.4(COL1A2):c.3034G>A (p.Gly1012Ser) rs72659319
NM_000089.4(COL1A2):c.3106-5T>C rs374164023
NM_000089.4(COL1A2):c.3124G>A (p.Gly1042Ser)
NM_000089.4(COL1A2):c.3200G>A (p.Arg1067His)
NM_000089.4(COL1A2):c.3239G>A (p.Arg1080Gln)
NM_000089.4(COL1A2):c.3250G>T (p.Gly1084Cys)
NM_000089.4(COL1A2):c.3286G>A (p.Gly1096Ser)
NM_000089.4(COL1A2):c.335G>A (p.Gly112Asp)
NM_000089.4(COL1A2):c.3439G>C (p.Glu1147Gln)
NM_000089.4(COL1A2):c.343G>A (p.Gly115Arg)
NM_000089.4(COL1A2):c.3488G>A (p.Cys1163Tyr)
NM_000089.4(COL1A2):c.3491G>A (p.Arg1164His)
NM_000089.4(COL1A2):c.3513A>G (p.Pro1171=) rs936707370
NM_000089.4(COL1A2):c.353G>T (p.Gly118Val)
NM_000089.4(COL1A2):c.3625G>A (p.Glu1209Lys) rs267601644
NM_000089.4(COL1A2):c.3647G>T (p.Trp1216Leu)
NM_000089.4(COL1A2):c.367C>A (p.Pro123Thr)
NM_000089.4(COL1A2):c.368C>A (p.Pro123His)
NM_000089.4(COL1A2):c.3740C>A (p.Ser1247Tyr)
NM_000089.4(COL1A2):c.3748A>G (p.Met1250Val)
NM_000089.4(COL1A2):c.3815G>T (p.Cys1272Phe)
NM_000089.4(COL1A2):c.3868_3869dup (p.Ile1291fs)
NM_000089.4(COL1A2):c.3879G>T (p.Gln1293His)
NM_000089.4(COL1A2):c.3949T>C (p.Cys1317Arg)
NM_000089.4(COL1A2):c.4078A>G (p.Ile1360Val)
NM_000089.4(COL1A2):c.432+1G>T
NM_000089.4(COL1A2):c.432+4_432+7del rs72656363
NM_000089.4(COL1A2):c.439C>T (p.Pro147Ser)
NM_000089.4(COL1A2):c.541G>A (p.Gly181Arg)
NM_000089.4(COL1A2):c.548A>G (p.Asn183Ser)
NM_000089.4(COL1A2):c.593A>G (p.Lys198Arg)
NM_000089.4(COL1A2):c.594+5A>T rs200744314
NM_000089.4(COL1A2):c.639A>G (p.Thr213=)
NM_000089.4(COL1A2):c.71-7T>C rs774842422
NM_000089.4(COL1A2):c.767G>A (p.Gly256Asp)
NM_000089.4(COL1A2):c.830G>T (p.Gly277Val)
NM_000089.4(COL1A2):c.835G>C (p.Ala279Pro)
NM_000089.4(COL1A2):c.892-4A>G rs749567968
NM_000089.4(COL1A2):c.909C>T (p.Asn303=) rs985639597
NM_000089.4(COL1A2):c.976C>A (p.Pro326Thr)
NM_000093.4(COL5A1):c.1720-136_1929del
NM_000093.4(COL5A1):c.2389delG rs1564453833
NM_000093.4(COL5A1):c.3746delG rs35002351
NM_000093.4(COL5A1):c.4232delG rs1060502259
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.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.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.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.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.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.4465G>A (p.Gly1489Arg)
NM_000093.5(COL5A1):c.4476_4478TCC[1] (p.Pro1494del)
NM_000093.5(COL5A1):c.4477C>T (p.Pro1493Ser)
NM_000093.5(COL5A1):c.447G>A (p.Pro149=) rs200290973
NM_000093.5(COL5A1):c.453C>G (p.Asp151Glu)
NM_000093.5(COL5A1):c.4555-8C>T rs1393610396
NM_000093.5(COL5A1):c.4568C>A (p.Pro1523His)
NM_000093.5(COL5A1):c.459C>T (p.Pro153=) rs1588448882
NM_000093.5(COL5A1):c.4628del (p.Gly1543fs)
NM_000093.5(COL5A1):c.4657C>T (p.Pro1553Ser)
NM_000093.5(COL5A1):c.4707G>A (p.Pro1569=)
NM_000093.5(COL5A1):c.4814C>G (p.Ala1605Gly)
NM_000093.5(COL5A1):c.4815G>A (p.Ala1605=)
NM_000093.5(COL5A1):c.4818C>T (p.Asp1606=) rs190912679
NM_000093.5(COL5A1):c.4837G>A (p.Gly1613Ser)
NM_000093.5(COL5A1):c.4869G>T (p.Glu1623Asp)
NM_000093.5(COL5A1):c.4942G>A (p.Asp1648Asn)
NM_000093.5(COL5A1):c.4955G>A (p.Gly1652Asp)
NM_000093.5(COL5A1):c.4982G>A (p.Gly1661Glu)
NM_000093.5(COL5A1):c.5041G>A (p.Val1681Ile)
NM_000093.5(COL5A1):c.5065G>A (p.Gly1689Arg)
NM_000093.5(COL5A1):c.5067+1G>A
NM_000093.5(COL5A1):c.5068-9C>T
NM_000093.5(COL5A1):c.508C>G (p.Leu170Val)
NM_000093.5(COL5A1):c.5126G>A (p.Arg1709His)
NM_000093.5(COL5A1):c.5128G>C (p.Gly1710Arg)
NM_000093.5(COL5A1):c.5136_5136+8delinsTGAATTCCCAC
NM_000093.5(COL5A1):c.5154C>A (p.Ala1718=)
NM_000093.5(COL5A1):c.5164C>A (p.Pro1722Thr)
NM_000093.5(COL5A1):c.5194C>T (p.Arg1732Trp)
NM_000093.5(COL5A1):c.5195G>A (p.Arg1732Gln)
NM_000093.5(COL5A1):c.5255G>C (p.Trp1752Ser)
NM_000093.5(COL5A1):c.5267C>G (p.Ala1756Gly)
NM_000093.5(COL5A1):c.5293dup (p.Arg1765fs)
NM_000093.5(COL5A1):c.5350G>T (p.Ala1784Ser)
NM_000093.5(COL5A1):c.5377_5380del (p.Lys1793fs)
NM_000093.5(COL5A1):c.5411C>G (p.Thr1804Ser)
NM_000093.5(COL5A1):c.5413C>T (p.Pro1805Ser)
NM_000093.5(COL5A1):c.5416A>G (p.Lys1806Glu)
NM_000093.5(COL5A1):c.5426A>C (p.Gln1809Pro)
NM_000093.5(COL5A1):c.5451C>T (p.Phe1817=) rs748940142
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.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.876dup (p.Ser293fs)
NM_000393.5(COL5A2):c.1006-8G>A rs200405052
NM_000393.5(COL5A2):c.1006-9C>G
NM_000393.5(COL5A2):c.1006-9C>T rs73978832
NM_000393.5(COL5A2):c.1010C>T (p.Pro337Leu) rs766349082
NM_000393.5(COL5A2):c.1017A>C (p.Gly339=) rs140609193
NM_000393.5(COL5A2):c.1021C>T (p.Pro341Ser) rs538602187
NM_000393.5(COL5A2):c.1035G>C (p.Gly345=) rs148786600
NM_000393.5(COL5A2):c.1059+8T>C rs200968159
NM_000393.5(COL5A2):c.1067G>A (p.Arg356Gln) rs761072017
NM_000393.5(COL5A2):c.1076A>G (p.His359Arg) rs760117362
NM_000393.5(COL5A2):c.1081A>C (p.Met361Leu) rs76148000
NM_000393.5(COL5A2):c.1139C>T (p.Pro380Leu) rs1576507871
NM_000393.5(COL5A2):c.1175C>T (p.Thr392Ile) rs1553515880
NM_000393.5(COL5A2):c.117A>T (p.Ile39=) rs1060504379
NM_000393.5(COL5A2):c.1182G>A (p.Ala394=) rs148229627
NM_000393.5(COL5A2):c.1186G>C (p.Gly396Arg)
NM_000393.5(COL5A2):c.118G>A (p.Ala40Thr) rs1559108874
NM_000393.5(COL5A2):c.119C>T (p.Ala40Val) rs758092388
NM_000393.5(COL5A2):c.1210A>G (p.Arg404Gly)
NM_000393.5(COL5A2):c.1228C>T (p.Pro410Ser) rs1042644306
NM_000393.5(COL5A2):c.1261G>A (p.Ala421Thr) rs200839338
NM_000393.5(COL5A2):c.1292A>G (p.Lys431Arg) rs144602736
NM_000393.5(COL5A2):c.1301C>T (p.Thr434Met) rs145850743
NM_000393.5(COL5A2):c.1302G>A (p.Thr434=) rs376170776
NM_000393.5(COL5A2):c.1311= (p.Pro437=) rs2229495
NM_000393.5(COL5A2):c.1324C>T (p.Pro442Ser) rs1008978987
NM_000393.5(COL5A2):c.1332_1349del (p.Ala446_Ser451del)
NM_000393.5(COL5A2):c.1343C>T (p.Pro448Leu)
NM_000393.5(COL5A2):c.1352C>T (p.Ser451Phe) rs778385867
NM_000393.5(COL5A2):c.1369A>G (p.Ser457Gly)
NM_000393.5(COL5A2):c.1378C>T (p.Pro460Ser) rs35830636
NM_000393.5(COL5A2):c.1391G>A (p.Arg464Gln) rs1553515798
NM_000393.5(COL5A2):c.1400C>T (p.Pro467Leu) rs115570272
NM_000393.5(COL5A2):c.1406A>G (p.Asp469Gly) rs1553515681
NM_000393.5(COL5A2):c.1412G>C (p.Gly471Ala) rs779614415
NM_000393.5(COL5A2):c.1454C>A (p.Pro485Gln) rs145281966
NM_000393.5(COL5A2):c.1455+6G>A rs113512079
NM_000393.5(COL5A2):c.1455+6G>T rs113512079
NM_000393.5(COL5A2):c.1463A>G (p.His488Arg) rs149305351
NM_000393.5(COL5A2):c.1478C>T (p.Pro493Leu)
NM_000393.5(COL5A2):c.1535T>C (p.Val512Ala) rs35852101
NM_000393.5(COL5A2):c.1542T>C (p.Pro514=) rs770622592
NM_000393.5(COL5A2):c.1550C>T (p.Pro517Leu)
NM_000393.5(COL5A2):c.1563+5A>G rs777118100
NM_000393.5(COL5A2):c.1570C>T (p.Pro524Ser) rs200205564
NM_000393.5(COL5A2):c.1579C>T (p.Arg527Cys) rs863223490
NM_000393.5(COL5A2):c.158T>A (p.Ile53Asn) rs1443765130
NM_000393.5(COL5A2):c.1613C>G (p.Pro538Arg) rs1576503605
NM_000393.5(COL5A2):c.1621G>T (p.Ala541Ser) rs768348357
NM_000393.5(COL5A2):c.1633C>T (p.Arg545Trp) rs145258293
NM_000393.5(COL5A2):c.1636G>A (p.Gly546Ser) rs369506320
NM_000393.5(COL5A2):c.1645G>C (p.Gly549Arg)
NM_000393.5(COL5A2):c.1658C>A (p.Pro553His) rs149203102
NM_000393.5(COL5A2):c.1685G>A (p.Arg562His) rs1199481029
NM_000393.5(COL5A2):c.1693G>C (p.Glu565Gln) rs730880066
NM_000393.5(COL5A2):c.1697C>T (p.Pro566Leu) rs1051400743
NM_000393.5(COL5A2):c.16G>T (p.Ala6Ser) rs372910621
NM_000393.5(COL5A2):c.1714C>T (p.Arg572Trp) rs768322852
NM_000393.5(COL5A2):c.1715G>A (p.Arg572Gln) rs760408439
NM_000393.5(COL5A2):c.1716+9A>G rs201934598
NM_000393.5(COL5A2):c.1738G>A (p.Val580Ile) rs771004951
NM_000393.5(COL5A2):c.173C>A (p.Pro58His) rs766925699
NM_000393.5(COL5A2):c.1765C>T (p.Pro589Ser)
NM_000393.5(COL5A2):c.1770+6T>C
NM_000393.5(COL5A2):c.1792C>T (p.Arg598Cys) rs1060501906
NM_000393.5(COL5A2):c.1814T>C (p.Ile605Thr) rs746339285
NM_000393.5(COL5A2):c.182_187TCTGTG[1] (p.Val63_Cys64del)
NM_000393.5(COL5A2):c.186T>C (p.Cys62=) rs142832916
NM_000393.5(COL5A2):c.1923+8T>C rs191193125
NM_000393.5(COL5A2):c.1924-4C>G rs1559085578
NM_000393.5(COL5A2):c.1933G>A (p.Gly645Arg) rs1559085564
NM_000393.5(COL5A2):c.1972C>T (p.Pro658Ser)
NM_000393.5(COL5A2):c.1973C>T (p.Pro658Leu) rs746458284
NM_000393.5(COL5A2):c.1976C>T (p.Pro659Leu) rs145404046
NM_000393.5(COL5A2):c.1977+1G>A rs1576502045
NM_000393.5(COL5A2):c.1977G>A (p.Pro659=) rs863223491
NM_000393.5(COL5A2):c.198T>C (p.Asn66=) rs76511879
NM_000393.5(COL5A2):c.2008C>A (p.Pro670Thr) rs904166744
NM_000393.5(COL5A2):c.2011C>T (p.Pro671Ser) rs139189200
NM_000393.5(COL5A2):c.2031+3A>G
NM_000393.5(COL5A2):c.2031+6C>T
NM_000393.5(COL5A2):c.2032-7G>A rs141571092
NM_000393.5(COL5A2):c.2066G>C (p.Gly689Ala)
NM_000393.5(COL5A2):c.2092C>A (p.Pro698Thr) rs146005731
NM_000393.5(COL5A2):c.2101C>A (p.Pro701Thr) rs765785677
NM_000393.5(COL5A2):c.2104G>A (p.Gly702Arg) rs772811492
NM_000393.5(COL5A2):c.2111T>C (p.Val704Ala) rs542643688
NM_000393.5(COL5A2):c.2117C>T (p.Pro706Leu) rs146175905
NM_000393.5(COL5A2):c.2130A>G (p.Arg710=) rs1451386429
NM_000393.5(COL5A2):c.2168G>A (p.Gly723Glu) rs1553514920
NM_000393.5(COL5A2):c.2210delinsGTCC (p.His737delinsArgPro) rs1559083259
NM_000393.5(COL5A2):c.2228A>C (p.Lys743Thr) rs372812220
NM_000393.5(COL5A2):c.2263A>C (p.Thr755Pro) rs34395097
NM_000393.5(COL5A2):c.228C>T (p.Cys76=) rs564136480
NM_000393.5(COL5A2):c.2291C>G (p.Pro764Arg) rs150260969
NM_000393.5(COL5A2):c.2291C>T (p.Pro764Leu) rs150260969
NM_000393.5(COL5A2):c.2307T>A (p.Ile769=) rs763068575
NM_000393.5(COL5A2):c.2334C>T (p.Asp778=) rs138457003
NM_000393.5(COL5A2):c.2335A>G (p.Arg779Gly)
NM_000393.5(COL5A2):c.2337+8C>T rs999144463
NM_000393.5(COL5A2):c.2338-10G>A
NM_000393.5(COL5A2):c.2338-6T>C rs375291199
NM_000393.5(COL5A2):c.2344A>G (p.Ile782Val) rs1270917752
NM_000393.5(COL5A2):c.2376A>C (p.Gly792=) rs35860166
NM_000393.5(COL5A2):c.238C>G (p.Leu80Val) rs746454126
NM_000393.5(COL5A2):c.239T>A (p.Leu80Gln)
NM_000393.5(COL5A2):c.2408T>C (p.Leu803Ser) rs149737825
NM_000393.5(COL5A2):c.2424G>A (p.Pro808=) rs200019093
NM_000393.5(COL5A2):c.2498C>T (p.Pro833Leu) rs116298748
NM_000393.5(COL5A2):c.249C>T (p.Ala83=) rs142388534
NM_000393.5(COL5A2):c.2506C>G (p.Arg836Gly) rs367718811
NM_000393.5(COL5A2):c.250G>A (p.Asp84Asn) rs745528957
NM_000393.5(COL5A2):c.2533G>A (p.Val845Ile) rs375124784
NM_000393.5(COL5A2):c.2544C>T (p.Ala848=) rs370774253
NM_000393.5(COL5A2):c.2552A>G (p.Gln851Arg)
NM_000393.5(COL5A2):c.2562C>A (p.Asp854Glu) rs148430780
NM_000393.5(COL5A2):c.2562C>T (p.Asp854=) rs148430780
NM_000393.5(COL5A2):c.2597C>T (p.Pro866Leu) rs143261719
NM_000393.5(COL5A2):c.259A>C (p.Thr87Pro)
NM_000393.5(COL5A2):c.260C>T (p.Thr87Met) rs778591411
NM_000393.5(COL5A2):c.261G>A (p.Thr87=) rs142044596
NM_000393.5(COL5A2):c.2627G>A (p.Gly876Glu) rs886039694
NM_000393.5(COL5A2):c.2634A>G (p.Gln878=) rs370304175
NM_000393.5(COL5A2):c.263C>A (p.Pro88His) rs149877855
NM_000393.5(COL5A2):c.2641G>A (p.Ala881Thr) rs760858324
NM_000393.5(COL5A2):c.2641G>T (p.Ala881Ser) rs760858324
NM_000393.5(COL5A2):c.2648C>A (p.Ser883Tyr) rs773515722
NM_000393.5(COL5A2):c.2712G>A (p.Pro904=) rs372869641
NM_000393.5(COL5A2):c.2716-4C>T rs111644889
NM_000393.5(COL5A2):c.2741C>T (p.Ala914Val) rs201486858
NM_000393.5(COL5A2):c.2764C>G (p.Pro922Ala)
NM_000393.5(COL5A2):c.2770-5A>G rs370313198
NM_000393.5(COL5A2):c.2770-6T>C rs770409954
NM_000393.5(COL5A2):c.2782C>T (p.Pro928Ser) rs1189019903
NM_000393.5(COL5A2):c.2786C>A (p.Ala929Glu)
NM_000393.5(COL5A2):c.2787G>A (p.Ala929=) rs151027388
NM_000393.5(COL5A2):c.2834G>A (p.Gly945Glu) rs868695034
NM_000393.5(COL5A2):c.2839C>G (p.Pro947Ala)
NM_000393.5(COL5A2):c.2841T>A (p.Pro947=) rs372780282
NM_000393.5(COL5A2):c.284T>A (p.Val95Asp) rs759604513
NM_000393.5(COL5A2):c.2854C>T (p.Arg952Cys) rs199530997
NM_000393.5(COL5A2):c.2855G>A (p.Arg952His) rs139264859
NM_000393.5(COL5A2):c.2859G>A (p.Val953=)
NM_000393.5(COL5A2):c.2863G>A (p.Asp955Asn) rs754751410
NM_000393.5(COL5A2):c.2867G>C (p.Arg956Pro) rs6434313
NM_000393.5(COL5A2):c.2872C>T (p.Pro958Ser) rs957007431
NM_000393.5(COL5A2):c.2881C>T (p.Pro961Ser) rs267599127
NM_000393.5(COL5A2):c.2882C>T (p.Pro961Leu) rs778835151
NM_000393.5(COL5A2):c.288T>C (p.Cys96=) rs577308799
NM_000393.5(COL5A2):c.2895A>G (p.Pro965=) rs760946138
NM_000393.5(COL5A2):c.2919dup (p.Asp974fs)
NM_000393.5(COL5A2):c.2929C>T (p.Pro977Ser) rs1576494351
NM_000393.5(COL5A2):c.2947C>T (p.Pro983Ser) rs141644853
NM_000393.5(COL5A2):c.2950G>C (p.Gly984Arg) rs1576493931
NM_000393.5(COL5A2):c.2963C>T (p.Thr988Met) rs369072636
NM_000393.5(COL5A2):c.2968G>A (p.Gly990Arg) rs1040238147
NM_000393.5(COL5A2):c.2970G>T (p.Gly990=)
NM_000393.5(COL5A2):c.2981T>C (p.Ile994Thr) rs1354785209
NM_000393.5(COL5A2):c.2988C>T (p.Gly996=) rs201299226
NM_000393.5(COL5A2):c.3001C>T (p.Arg1001Cys) rs863223507
NM_000393.5(COL5A2):c.3006A>T (p.Gly1002=) rs756259584
NM_000393.5(COL5A2):c.3017T>A (p.Met1006Lys) rs930378570
NM_000393.5(COL5A2):c.3019C>T (p.Pro1007Ser)
NM_000393.5(COL5A2):c.3021C>T (p.Pro1007=) rs143318792
NM_000393.5(COL5A2):c.3022G>A (p.Gly1008Ser) rs909634945
NM_000393.5(COL5A2):c.3038C>T (p.Ala1013Val) rs372220538
NM_000393.5(COL5A2):c.3068G>T (p.Gly1023Val)
NM_000393.5(COL5A2):c.3098C>T (p.Pro1033Leu) rs75542756
NM_000393.5(COL5A2):c.3103G>A (p.Gly1035Arg)
NM_000393.5(COL5A2):c.3143C>A (p.Pro1048Gln)
NM_000393.5(COL5A2):c.3147+1G>A
NM_000393.5(COL5A2):c.315= (p.Thr105=) rs4128539
NM_000393.5(COL5A2):c.3169A>G (p.Thr1057Ala) rs768663426
NM_000393.5(COL5A2):c.3170C>A (p.Thr1057Asn) rs201186702
NM_000393.5(COL5A2):c.3178C>A (p.Arg1060=) rs374549843
NM_000393.5(COL5A2):c.3178C>T (p.Arg1060Trp) rs374549843
NM_000393.5(COL5A2):c.3196G>A (p.Glu1066Lys) rs779213867
NM_000393.5(COL5A2):c.31C>A (p.Leu11Ile) rs1576577162
NM_000393.5(COL5A2):c.3208C>T (p.Arg1070Cys) rs754429372
NM_000393.5(COL5A2):c.3209G>A (p.Arg1070His) rs373288848
NM_000393.5(COL5A2):c.322+8T>C rs372227642
NM_000393.5(COL5A2):c.3222G>A (p.Gly1074=) rs149574060
NM_000393.5(COL5A2):c.3246G>C (p.Gln1082His) rs1039715132
NM_000393.5(COL5A2):c.3248G>A (p.Gly1083Asp) rs1559076883
NM_000393.5(COL5A2):c.3268C>T (p.Pro1090Ser) rs761543775
NM_000393.5(COL5A2):c.3283G>A (p.Gly1095Arg) rs1576490680
NM_000393.5(COL5A2):c.3308C>T (p.Pro1103Leu) rs150401168
NM_000393.5(COL5A2):c.3309+1G>A rs1553513657
NM_000393.5(COL5A2):c.3309G>A (p.Pro1103=) rs878853978
NM_000393.5(COL5A2):c.3310-3T>A
NM_000393.5(COL5A2):c.3311G>T (p.Gly1104Val) rs1167178682
NM_000393.5(COL5A2):c.3316C>T (p.Arg1106Trp) rs146789395
NM_000393.5(COL5A2):c.3325A>G (p.Ile1109Val) rs766499543
NM_000393.5(COL5A2):c.3331C>T (p.Pro1111Ser)
NM_000393.5(COL5A2):c.3341G>A (p.Arg1114Gln) rs377049803
NM_000393.5(COL5A2):c.3343G>C (p.Ala1115Pro) rs748601646
NM_000393.5(COL5A2):c.3373G>A (p.Gly1125Arg) rs151187317
NM_000393.5(COL5A2):c.3385G>A (p.Asp1129Asn) rs199802059
NM_000393.5(COL5A2):c.3391G>A (p.Gly1131Ser) rs747946828
NM_000393.5(COL5A2):c.33C>T (p.Leu11=) rs140108893
NM_000393.5(COL5A2):c.3411= (p.Gly1137=) rs6434312
NM_000393.5(COL5A2):c.3412G>A (p.Asp1138Asn)
NM_000393.5(COL5A2):c.3471+3A>G
NM_000393.5(COL5A2):c.3471+8A>T rs367643805
NM_000393.5(COL5A2):c.3488A>G (p.Gln1163Arg) rs758412337
NM_000393.5(COL5A2):c.3491G>A (p.Gly1164Glu) rs863223508
NM_000393.5(COL5A2):c.34C>T (p.Leu12Phe) rs768807471
NM_000393.5(COL5A2):c.3513A>G (p.Pro1171=) rs754108091
NM_000393.5(COL5A2):c.3533C>A (p.Pro1178Gln) rs1060501905
NM_000393.5(COL5A2):c.3542T>G (p.Val1181Gly) rs200845884
NM_000393.5(COL5A2):c.3567C>A (p.Asn1189Lys) rs745845130
NM_000393.5(COL5A2):c.3608G>A (p.Gly1203Asp) rs1576488066
NM_000393.5(COL5A2):c.3611G>A (p.Ser1204Asn) rs1060501907
NM_000393.5(COL5A2):c.3614T>C (p.Val1205Ala) rs148110552
NM_000393.5(COL5A2):c.3637C>T (p.Pro1213Ser)
NM_000393.5(COL5A2):c.3638C>T (p.Pro1213Leu) rs1056466895
NM_000393.5(COL5A2):c.3646G>A (p.Glu1216Lys) rs755429175
NM_000393.5(COL5A2):c.3658C>T (p.Pro1220Ser) rs770554435
NM_000393.5(COL5A2):c.3668C>T (p.Pro1223Leu) rs753383064
NM_000393.5(COL5A2):c.3676C>T (p.Pro1226Ser) rs199621926
NM_000393.5(COL5A2):c.3689C>G (p.Thr1230Arg) rs62184175
NM_000393.5(COL5A2):c.369+1G>T rs1559104199
NM_000393.5(COL5A2):c.3728G>A (p.Ser1243Asn) rs140851866
NM_000393.5(COL5A2):c.3733C>T (p.Pro1245Ser) rs376971803
NM_000393.5(COL5A2):c.3739C>A (p.Pro1247Thr)
NM_000393.5(COL5A2):c.3756T>C (p.Thr1252=) rs1576486483
NM_000393.5(COL5A2):c.376G>A (p.Gly126Ser) rs779153546
NM_000393.5(COL5A2):c.3791C>T (p.Thr1264Met) rs762902468
NM_000393.5(COL5A2):c.3794A>G (p.Asp1265Gly) rs200325397
NM_000393.5(COL5A2):c.379A>C (p.Ile127Leu) rs1064795177
NM_000393.5(COL5A2):c.379A>G (p.Ile127Val) rs1064795177
NM_000393.5(COL5A2):c.3835A>G (p.Ile1279Val) rs772344964
NM_000393.5(COL5A2):c.3837T>C (p.Ile1279=) rs148795690
NM_000393.5(COL5A2):c.383G>A (p.Arg128His)
NM_000393.5(COL5A2):c.3877G>T (p.Ala1293Ser)
NM_000393.5(COL5A2):c.3878C>T (p.Ala1293Val) rs1251846979
NM_000393.5(COL5A2):c.3880C>T (p.Arg1294Cys) rs758136981
NM_000393.5(COL5A2):c.3889G>A (p.Asp1297Asn) rs1553512886
NM_000393.5(COL5A2):c.389G>A (p.Arg130His) rs377331666
NM_000393.5(COL5A2):c.3913G>A (p.Ala1305Thr) rs372897632
NM_000393.5(COL5A2):c.3919C>G (p.Gln1307Glu) rs142814184
NM_000393.5(COL5A2):c.3926G>A (p.Gly1309Asp) rs863223497
NM_000393.5(COL5A2):c.3975A>G (p.Lys1325=) rs775697182
NM_000393.5(COL5A2):c.399G>A (p.Pro133=) rs369867930
NM_000393.5(COL5A2):c.403-3T>C rs369733690
NM_000393.5(COL5A2):c.4037G>A (p.Arg1346His) rs143163673
NM_000393.5(COL5A2):c.4067A>G (p.Asp1356Gly) rs140952583
NM_000393.5(COL5A2):c.4069A>T (p.Asn1357Tyr)
NM_000393.5(COL5A2):c.407C>T (p.Pro136Leu) rs863223502
NM_000393.5(COL5A2):c.4085A>G (p.Tyr1362Cys) rs141206016
NM_000393.5(COL5A2):c.4105G>C (p.Gly1369Arg)
NM_000393.5(COL5A2):c.4138C>T (p.Pro1380Ser) rs145755198
NM_000393.5(COL5A2):c.4153A>G (p.Thr1385Ala) rs1169417653
NM_000393.5(COL5A2):c.4161G>A (p.Met1387Ile)
NM_000393.5(COL5A2):c.4163C>T (p.Thr1388Ile) rs771415085
NM_000393.5(COL5A2):c.4172G>A (p.Arg1391His) rs150931608
NM_000393.5(COL5A2):c.4173C>G (p.Arg1391=) rs148590409
NM_000393.5(COL5A2):c.4197G>A (p.Gln1399=) rs78870279
NM_000393.5(COL5A2):c.4217A>G (p.Lys1406Arg) rs754932150
NM_000393.5(COL5A2):c.4240G>A (p.Asp1414Asn) rs139229616
NM_000393.5(COL5A2):c.4295A>T (p.Asp1432Val) rs141777954
NM_000393.5(COL5A2):c.4307A>G (p.Glu1436Gly) rs371259794
NM_000393.5(COL5A2):c.4325G>A (p.Arg1442Gln) rs761126767
NM_000393.5(COL5A2):c.4333G>A (p.Val1445Ile) rs762653511
NM_000393.5(COL5A2):c.4354-6T>A
NM_000393.5(COL5A2):c.4357C>T (p.Arg1453Trp) rs760569641
NM_000393.5(COL5A2):c.4358G>A (p.Arg1453Gln) rs149064715
NM_000393.5(COL5A2):c.4362T>A (p.Asn1454Lys) rs372170366
NM_000393.5(COL5A2):c.437G>A (p.Arg146Gln) rs144430633
NM_000393.5(COL5A2):c.4389A>G (p.Glu1463=) rs146100075
NM_000393.5(COL5A2):c.4392T>C (p.Tyr1464=) rs142544320
NM_000393.5(COL5A2):c.4412G>A (p.Arg1471His)
NM_000393.5(COL5A2):c.4443T>C (p.Asp1481=) rs142857608
NM_000393.5(COL5A2):c.4449C>T (p.Gly1483=) rs78905646
NM_000393.5(COL5A2):c.4450G>A (p.Gly1484Ser) rs147420365
NM_000393.5(COL5A2):c.4451G>A (p.Gly1484Asp) rs761481937
NM_000393.5(COL5A2):c.4470C>T (p.Gly1490=) rs142895373
NM_000393.5(COL5A2):c.4471G>A (p.Val1491Ile) rs200703515
NM_000393.5(COL5A2):c.4495G>T (p.Val1499Leu) rs527433112
NM_000393.5(COL5A2):c.463C>T (p.Arg155Cys) rs767252151
NM_000393.5(COL5A2):c.519A>C (p.Pro173=) rs1553517803
NM_000393.5(COL5A2):c.536C>T (p.Pro179Leu)
NM_000393.5(COL5A2):c.553G>A (p.Asp185Asn) rs775933907
NM_000393.5(COL5A2):c.567+7T>C rs755666206
NM_000393.5(COL5A2):c.569C>T (p.Pro190Leu)
NM_000393.5(COL5A2):c.570G>A (p.Pro190=) rs139666335
NM_000393.5(COL5A2):c.586G>C (p.Ala196Pro) rs142855115
NM_000393.5(COL5A2):c.5T>C (p.Met2Thr) rs762874073
NM_000393.5(COL5A2):c.635C>T (p.Pro212Leu)
NM_000393.5(COL5A2):c.64G>A (p.Val22Ile) rs746289356
NM_000393.5(COL5A2):c.668C>T (p.Pro223Leu)
NM_000393.5(COL5A2):c.690+5G>T rs1576517517
NM_000393.5(COL5A2):c.722A>G (p.Glu241Gly)
NM_000393.5(COL5A2):c.73A>C (p.Lys25Gln)
NM_000393.5(COL5A2):c.743T>C (p.Met248Thr)
NM_000393.5(COL5A2):c.750G>A (p.Pro250=) rs751819198
NM_000393.5(COL5A2):c.754G>T (p.Gly252Cys) rs1553517323
NM_000393.5(COL5A2):c.75A>G (p.Lys25=) rs549894501
NM_000393.5(COL5A2):c.798+10C>T rs368165817
NM_000393.5(COL5A2):c.799-15dup rs1169314276
NM_000393.5(COL5A2):c.799-6A>G rs111586240
NM_000393.5(COL5A2):c.799-7C>A rs879227018
NM_000393.5(COL5A2):c.851C>T (p.Pro284Leu) rs540573303
NM_000393.5(COL5A2):c.852G>A (p.Pro284=)
NM_000393.5(COL5A2):c.856G>A (p.Ala286Thr)
NM_000393.5(COL5A2):c.859C>T (p.Arg287Cys) rs779241228
NM_000393.5(COL5A2):c.870T>C (p.Pro290=) rs139656817
NM_000393.5(COL5A2):c.889G>A (p.Gly297Ser)
NM_000393.5(COL5A2):c.905G>C (p.Arg302Pro) rs545574407
NM_000393.5(COL5A2):c.906+9A>G rs761662868
NM_000393.5(COL5A2):c.955T>C (p.Ser319Pro) rs1060501908
NM_000393.5(COL5A2):c.961-3del rs542134887
NM_000393.5(COL5A2):c.975C>T (p.Pro325=) rs144344474
NM_000393.5(COL5A2):c.985A>G (p.Met329Val) rs140785678
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.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.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.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.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.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.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+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.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.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.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.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.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.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.3752dup (p.Pro1253fs) rs786205100
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+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.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.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+5C>T rs142248898
NM_001278074.1(COL5A1):c.4230+6G>A rs77176843
NM_001278074.1(COL5A1):c.4231-9G>A rs570545638
NM_001278074.1(COL5A1):c.4238C>A (p.Ala1413Asp) rs1564480902
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>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.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.4378C>A (p.Pro1460Thr) rs773125713
NM_001278074.1(COL5A1):c.4383C>T (p.Pro1461=) rs368551709
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.4447G>T (p.Gly1483Cys) rs1554806963
NM_001278074.1(COL5A1):c.446C>T (p.Pro149Leu) rs369971694
NM_001278074.1(COL5A1):c.4473C>T (p.Ile1491=) rs537768945
NM_001278074.1(COL5A1):c.4474G>A (p.Gly1492Ser) rs863223458
NM_001278074.1(COL5A1):c.4482G>A (p.Pro1494=) rs2228560
NM_001278074.1(COL5A1):c.4487A>G (p.Glu1496Gly) rs1588589560
NM_001278074.1(COL5A1):c.4495G>A (p.Glu1499Lys) rs1060502261
NM_001278074.1(COL5A1):c.4507C>T (p.Arg1503Cys) rs200987038
NM_001278074.1(COL5A1):c.4508G>A (p.Arg1503His) rs373653069
NM_001278074.1(COL5A1):c.4522C>A (p.Pro1508Thr) rs148687561
NM_001278074.1(COL5A1):c.4536C>T (p.Ser1512=) rs367711669
NM_001278074.1(COL5A1):c.4545_4549dup (p.Glu1517fs) rs1588589663
NM_001278074.1(COL5A1):c.4554+1G>C rs1564482508
NM_001278074.1(COL5A1):c.4554+5G>A rs375489070
NM_001278074.1(COL5A1):c.4560C>T (p.Ile1520=) rs2228559
NM_001278074.1(COL5A1):c.4573G>A (p.Gly1525Ser) rs1564484053
NM_001278074.1(COL5A1):c.4607C>T (p.Pro1536Leu) rs761837954
NM_001278074.1(COL5A1):c.460C>T (p.Leu154Phe) rs1554781521
NM_001278074.1(COL5A1):c.4612C>A (p.Pro1538Thr) rs1554807720
NM_001278074.1(COL5A1):c.4614G>A (p.Pro1538=) rs762698462
NM_001278074.1(COL5A1):c.4643C>T (p.Ser1548Leu) rs147398633
NM_001278074.1(COL5A1):c.4652C>T (p.Thr1551Ile) rs863223460
NM_001278074.1(COL5A1):c.4654G>A (p.Gly1552Ser) rs1554807811
NM_001278074.1(COL5A1):c.4656_4660del (p.Pro1553fs) rs1554807812
NM_001278074.1(COL5A1):c.4658C>T (p.Pro1553Leu) rs530570306
NM_001278074.1(COL5A1):c.4659G>A (p.Pro1553=) rs368782334
NM_001278074.1(COL5A1):c.4676A>C (p.His1559Pro) rs768691969
NM_001278074.1(COL5A1):c.467G>A (p.Arg156Gln) rs770896795
NM_001278074.1(COL5A1):c.4683A>C (p.Gly1561=) rs149959668
NM_001278074.1(COL5A1):c.4693C>T (p.Pro1565Ser) rs770278589
NM_001278074.1(COL5A1):c.4698+9C>T rs753030199
NM_001278074.1(COL5A1):c.4698G>A (p.Pro1566=) rs147904867
NM_001278074.1(COL5A1):c.4699-6C>T rs113090154
NM_001278074.1(COL5A1):c.4706C>T (p.Pro1569Leu) rs1297565068
NM_001278074.1(COL5A1):c.4717A>G (p.Ile1573Val) rs373448943
NM_001278074.1(COL5A1):c.4719C>T (p.Ile1573=) rs966533667
NM_001278074.1(COL5A1):c.4739C>T (p.Ala1580Val) rs528826181
NM_001278074.1(COL5A1):c.4748C>T (p.Thr1583Met) rs375076580
NM_001278074.1(COL5A1):c.4753C>T (p.Arg1585Trp) rs546865410
NM_001278074.1(COL5A1):c.4754G>A (p.Arg1585Gln) rs531431738
NM_001278074.1(COL5A1):c.4762G>A (p.Asp1588Asn) rs863223480
NM_001278074.1(COL5A1):c.4765G>A (p.Ala1589Thr) rs377138881
NM_001278074.1(COL5A1):c.4788G>C (p.Gly1596=) rs138436047
NM_001278074.1(COL5A1):c.4791T>C (p.Asn1597=) rs886063677
NM_001278074.1(COL5A1):c.4795G>C (p.Glu1599Gln) rs149212775
NM_001278074.1(COL5A1):c.4804G>A (p.Val1602Met) rs201771867
NM_001278074.1(COL5A1):c.4805_4813dup (p.Val1602_Tyr1604dup) rs752240390
NM_001278074.1(COL5A1):c.4812C>T (p.Tyr1604=) rs542783734
NM_001278074.1(COL5A1):c.4814C>T (p.Ala1605Val) rs145175057
NM_001278074.1(COL5A1):c.4836C>T (p.Phe1612=) rs183904215
NM_001278074.1(COL5A1):c.484G>C (p.Asp162His) rs1564396342
NM_001278074.1(COL5A1):c.4863G>T (p.Glu1621Asp) rs1064794238
NM_001278074.1(COL5A1):c.4879C>T (p.Arg1627Trp) rs558906147
NM_001278074.1(COL5A1):c.4880G>A (p.Arg1627Gln) rs761802703
NM_001278074.1(COL5A1):c.4887G>A (p.Leu1629=) rs1588598230
NM_001278074.1(COL5A1):c.4892C>T (p.Thr1631Met) rs764446683
NM_001278074.1(COL5A1):c.4897C>G (p.Gln1633Glu) rs1588598244
NM_001278074.1(COL5A1):c.4906G>A (p.Ala1636Thr) rs113452150
NM_001278074.1(COL5A1):c.4909C>T (p.Arg1637Cys) rs753433375
NM_001278074.1(COL5A1):c.4909del (p.Arg1637fs) rs1564487306
NM_001278074.1(COL5A1):c.491+3A>C rs1554781526
NM_001278074.1(COL5A1):c.491+9G>A rs752150900
NM_001278074.1(COL5A1):c.4910G>A (p.Arg1637His) rs199998065
NM_001278074.1(COL5A1):c.4911C>T (p.Arg1637=) rs778483767
NM_001278074.1(COL5A1):c.4927C>T (p.Gln1643Ter) rs1219304070
NM_001278074.1(COL5A1):c.4940C>T (p.Pro1647Leu) rs140669047
NM_001278074.1(COL5A1):c.4941C>T (p.Pro1647=) rs747549921
NM_001278074.1(COL5A1):c.4943A>G (p.Asp1648Gly) rs746071518
NM_001278074.1(COL5A1):c.494G>A (p.Trp165Ter) rs1588449879
NM_001278074.1(COL5A1):c.4954+4A>G rs1564487377
NM_001278074.1(COL5A1):c.4954+6G>C rs1031138847
NM_001278074.1(COL5A1):c.4968C>T (p.Val1656=) rs201871481
NM_001278074.1(COL5A1):c.4990A>G (p.Arg1664Gly) rs1588599794
NM_001278074.1(COL5A1):c.5012G>A (p.Cys1671Tyr) rs1554808357
NM_001278074.1(COL5A1):c.5028G>T (p.Gly1676=) rs367902089
NM_001278074.1(COL5A1):c.502A>G (p.Ile168Val) rs112858705
NM_001278074.1(COL5A1):c.5033C>G (p.Ser1678Trp) rs145299315
NM_001278074.1(COL5A1):c.5034G>A (p.Ser1678=) rs148006741
NM_001278074.1(COL5A1):c.5039G>T (p.Cys1680Phe) rs1588599870
NM_001278074.1(COL5A1):c.5060C>A (p.Ser1687Tyr) rs150083065
NM_001278074.1(COL5A1):c.5067+7A>G rs374122742
NM_001278074.1(COL5A1):c.5068-103C>G rs138396959
NM_001278074.1(COL5A1):c.5068-139T>C rs113256540
NM_001278074.1(COL5A1):c.5141_5143del (p.Ser1714del) rs1060502250
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.5151C>T (p.Asp1717=) rs61729558
NM_001278074.1(COL5A1):c.5154C>T (p.Ala1718=) rs147434147
NM_001278074.1(COL5A1):c.5155G>T (p.Glu1719Ter) rs776640704
NM_001278074.1(COL5A1):c.5159G>T (p.Gly1720Val) rs1243519195
NM_001278074.1(COL5A1):c.5162A>G (p.Asn1721Ser) rs1482037877
NM_001278074.1(COL5A1):c.5182A>G (p.Met1728Val) rs138068984
NM_001278074.1(COL5A1):c.5190C>T (p.Phe1730=) rs61729481
NM_001278074.1(COL5A1):c.5204G>A (p.Ser1735Asn) rs1588615451
NM_001278074.1(COL5A1):c.5223C>T (p.Asn1741=) rs144081161
NM_001278074.1(COL5A1):c.5224G>A (p.Val1742Ile) rs946316218
NM_001278074.1(COL5A1):c.5234A>G (p.His1745Arg) rs370607849
NM_001278074.1(COL5A1):c.5250G>A (p.Val1750=) rs200348547
NM_001278074.1(COL5A1):c.526A>C (p.Asn176His) rs369396868
NM_001278074.1(COL5A1):c.5270C>T (p.Thr1757Met) rs2229817
NM_001278074.1(COL5A1):c.5280C>T (p.Tyr1760=) rs767284056
NM_001278074.1(COL5A1):c.5293C>T (p.Arg1765Cys) rs199703883
NM_001278074.1(COL5A1):c.5298C>T (p.Phe1766=) rs1231716528
NM_001278074.1(COL5A1):c.5299del (p.Leu1767fs) rs1554726279
NM_001278074.1(COL5A1):c.52C>T (p.Pro18Ser) rs1060502260
NM_001278074.1(COL5A1):c.5303G>A (p.Gly1768Asp) rs1588615582
NM_001278074.1(COL5A1):c.5310C>T (p.Asn1770=) rs764817290
NM_001278074.1(COL5A1):c.5311G>A (p.Asp1771Asn) rs1005244744
NM_001278074.1(COL5A1):c.5317del (p.Glu1773fs) rs1554726283
NM_001278074.1(COL5A1):c.5321T>C (p.Met1774Thr) rs1554726285
NM_001278074.1(COL5A1):c.5326T>C (p.Tyr1776His) rs778249693
NM_001278074.1(COL5A1):c.5336_5337delinsG (p.Asn1779fs) rs1588615658
NM_001278074.1(COL5A1):c.5338C>T (p.Pro1780Ser) rs781230603
NM_001278074.1(COL5A1):c.5339C>A (p.Pro1780His) rs746104317
NM_001278074.1(COL5A1):c.5348G>A (p.Arg1783His) rs777045810
NM_001278074.1(COL5A1):c.5349C>T (p.Arg1783=) rs140031713
NM_001278074.1(COL5A1):c.5350G>A (p.Ala1784Thr) rs143859495
NM_001278074.1(COL5A1):c.5389A>C (p.Lys1797Gln) rs560106611
NM_001278074.1(COL5A1):c.5407G>A (p.Asp1803Asn) rs61729495
NM_001278074.1(COL5A1):c.5420T>A (p.Val1807Glu) rs1588621758
NM_001278074.1(COL5A1):c.5432C>T (p.Pro1811Leu) rs1554727362
NM_001278074.1(COL5A1):c.5437G>A (p.Val1813Met) rs755914340
NM_001278074.1(COL5A1):c.5461G>A (p.Gly1821Ser) rs773709219
NM_001278074.1(COL5A1):c.5468C>T (p.Ala1823Val) rs747656987
NM_001278074.1(COL5A1):c.5469G>C (p.Ala1823=) rs367657505
NM_001278074.1(COL5A1):c.5473C>T (p.Gln1825Ter) rs1057518004
NM_001278074.1(COL5A1):c.548G>A (p.Cys183Tyr) rs1060502251
NM_001278074.1(COL5A1):c.5495G>A (p.Gly1832Glu) rs1554727410
NM_001278074.1(COL5A1):c.5497C>T (p.Pro1833Ser) rs370789226
NM_001278074.1(COL5A1):c.5498dup (p.Ala1834fs) rs1564191704
NM_001278074.1(COL5A1):c.5504G>C (p.Cys1835Ser) rs1060502246
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.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.787-9C>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.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
Single allele

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