ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 946
Download table as spreadsheet
HGVS dbSNP
NC_000002.11:g.(?_189964813)_(189964885_?)del
NC_000007.13:g.(?_94024324)_(94025130_?)del
NC_000007.13:g.(?_94024324)_(94028416_?)del
NC_000007.13:g.(?_94037139)_(94037712_?)dup
NC_000007.13:g.(?_94037139)_(94038155_?)dup
NC_000009.11:g.(?_134379574)_(138678377_?)dup
NC_000009.11:g.(?_137533651)_(137534142_?)dup
NC_000009.11:g.(?_137534024)_(137660319_?)del
NC_000009.11:g.(?_137582738)_(137582945_?)del
NC_000009.11:g.(?_137582738)_(137593199_?)dup
NC_000009.11:g.(?_137582738)_(137655603_?)del
NC_000009.11:g.(?_137582748)_(137619253_?)del
NC_000009.11:g.(?_137591735)_(137591988_?)del
NC_000009.11:g.(?_137593017)_(137727050_?)del
NC_000009.11:g.(?_137619092)_(137620673_?)del
NC_000009.11:g.(?_137644415)_(137644511_?)del
NC_000009.11:g.(?_137721802)_(137734169_?)dup
NC_000009.11:g.(?_137726797)_(137727070_?)del
NC_000009.11:g.(?_137733983)_(137734169_?)del
NM_000089.3(COL1A2):c.1009G>A (p.Gly337Ser) rs67865220
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)
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)
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)
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
NM_000089.3(COL1A2):c.1474A>T (p.Ile492Phe)
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)
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.1719+7A>T rs1554396853
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.1817T>C (p.Ile606Thr)
NM_000089.3(COL1A2):c.1866T>C (p.Gly622=) rs765470622
NM_000089.3(COL1A2):c.1892G>T (p.Gly631Val)
NM_000089.3(COL1A2):c.1908T>A (p.Ser636=)
NM_000089.3(COL1A2):c.1964G>A (p.Gly655Glu) rs1554397275
NM_000089.3(COL1A2):c.1971+3A>T
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)
NM_000089.3(COL1A2):c.2025+9A>G rs368837694
NM_000089.3(COL1A2):c.2078G>A (p.Arg693Gln) rs34147460
NM_000089.3(COL1A2):c.2082C>A (p.Gly694=) rs193229878
NM_000089.3(COL1A2):c.2098G>C (p.Gly700Arg)
NM_000089.3(COL1A2):c.2098G>T (p.Gly700Cys)
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)
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)
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)
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)
NM_000089.3(COL1A2):c.2400C>T (p.Pro800=) rs139913150
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)
NM_000089.3(COL1A2):c.2527G>A (p.Ala843Thr)
NM_000089.3(COL1A2):c.2565+1G>A rs72658198
NM_000089.3(COL1A2):c.2565+3_2565+6delAAGT
NM_000089.3(COL1A2):c.2566-6A>G rs141088934
NM_000089.3(COL1A2):c.2596C>G (p.Leu866Val)
NM_000089.3(COL1A2):c.2663C>G (p.Ala888Gly)
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.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.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)
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)
NM_000089.3(COL1A2):c.2968G>T (p.Ala990Ser)
NM_000089.3(COL1A2):c.298G>A (p.Gly100Ser) rs1410254723
NM_000089.3(COL1A2):c.2997+6T>A
NM_000089.3(COL1A2):c.299G>T (p.Gly100Val)
NM_000089.3(COL1A2):c.3018C>T (p.Gly1006=) rs62001059
NM_000089.3(COL1A2):c.3034G>A (p.Gly1012Ser) rs72659319
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)
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)
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)
NM_000089.3(COL1A2):c.3368G>T (p.Arg1123Leu) rs145541630
NM_000089.3(COL1A2):c.3495C>G (p.Asp1165Glu)
NM_000089.3(COL1A2):c.3526+4G>A rs1284156162
NM_000089.3(COL1A2):c.3566A>G (p.Asp1189Gly) rs754575611
NM_000089.3(COL1A2):c.3585T>C (p.Cys1195=) rs1800253
NM_000089.3(COL1A2):c.3625G>A (p.Glu1209Lys)
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.3792C>T (p.Ala1264=) rs745413783
NM_000089.3(COL1A2):c.3815G>C (p.Cys1272Ser) rs1554398835
NM_000089.3(COL1A2):c.3835A>G (p.Met1279Val)
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.398G>T (p.Gly133Val) rs1562899031
NM_000089.3(COL1A2):c.4036C>T (p.Pro1346Ser) rs369008932
NM_000089.3(COL1A2):c.4063G>T (p.Glu1355Ter)
NM_000089.3(COL1A2):c.430G>A (p.Asp144Asn) rs981008420
NM_000089.3(COL1A2):c.432+1G>A rs1554395431
NM_000089.3(COL1A2):c.432+4_432+7delAGTA rs72656363
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.586G>A (p.Gly196Ser)
NM_000089.3(COL1A2):c.594+5A>T rs200744314
NM_000089.3(COL1A2):c.595-2A>G
NM_000089.3(COL1A2):c.638_639+6delCAGTAAGT rs1562900123
NM_000089.3(COL1A2):c.647G>A (p.Arg216His)
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)
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)
NM_000089.3(COL1A2):c.781C>G (p.Pro261Ala)
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)
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_000093.4(COL5A1):c.1044G>T (p.Thr348=) rs1246095864
NM_000093.4(COL5A1):c.1048T>C (p.Ser350Pro)
NM_000093.4(COL5A1):c.1052C>A (p.Pro351Gln)
NM_000093.4(COL5A1):c.1062C>T (p.Asp354=) rs61737708
NM_000093.4(COL5A1):c.1075G>A (p.Glu359Lys)
NM_000093.4(COL5A1):c.1075G>T (p.Glu359Ter) rs769752636
NM_000093.4(COL5A1):c.1077G>A (p.Glu359=) rs201166370
NM_000093.4(COL5A1):c.1092C>T (p.Pro364=) rs41306391
NM_000093.4(COL5A1):c.110-10G>A rs746555918
NM_000093.4(COL5A1):c.110-3C>G rs1554780148
NM_000093.4(COL5A1):c.1114G>A (p.Ala372Thr)
NM_000093.4(COL5A1):c.1119G>A (p.Gly373=) rs1060504528
NM_000093.4(COL5A1):c.1120G>A (p.Ala374Thr)
NM_000093.4(COL5A1):c.1140C>T (p.Thr380=) rs749315207
NM_000093.4(COL5A1):c.1143C>T (p.Ala381=) rs200245996
NM_000093.4(COL5A1):c.1144G>A (p.Asp382Asn)
NM_000093.4(COL5A1):c.1147A>G (p.Thr383Ala) rs747758069
NM_000093.4(COL5A1):c.1158C>T (p.Ser386=) rs61729497
NM_000093.4(COL5A1):c.1175C>T (p.Pro392Leu) rs1290737803
NM_000093.4(COL5A1):c.1191G>T (p.Ala397=) rs199755089
NM_000093.4(COL5A1):c.1224G>A (p.Thr408=) rs139406076
NM_000093.4(COL5A1):c.1224G>C (p.Thr408=) rs139406076
NM_000093.4(COL5A1):c.1228C>T (p.Arg410Trp)
NM_000093.4(COL5A1):c.1239C>G (p.Asp413Glu)
NM_000093.4(COL5A1):c.1240G>A (p.Glu414Lys)
NM_000093.4(COL5A1):c.1246_1257TACTACGACCCC[1] (p.416_419YYDP[1]) rs745934765
NM_000093.4(COL5A1):c.1246_1257TACTACGACCCC[3] (p.416_419YYDP[3])
NM_000093.4(COL5A1):c.1263C>T (p.Tyr421=) rs373846823
NM_000093.4(COL5A1):c.1264G>C (p.Asp422His) rs760798318
NM_000093.4(COL5A1):c.126C>T (p.Leu42=) rs149369116
NM_000093.4(COL5A1):c.126_128del (p.Leu43del) rs1564390373
NM_000093.4(COL5A1):c.1271C>G (p.Thr424Ser) rs752619850
NM_000093.4(COL5A1):c.1280C>T (p.Pro427Leu) rs751337133
NM_000093.4(COL5A1):c.1281G>A (p.Pro427=) rs147292897
NM_000093.4(COL5A1):c.1283C>T (p.Ser428Leu) rs770793962
NM_000093.4(COL5A1):c.1291G>A (p.Gly431Arg) rs962170388
NM_000093.4(COL5A1):c.1292G>A (p.Gly431Glu)
NM_000093.4(COL5A1):c.1295C>T (p.Pro432Leu) rs140943202
NM_000093.4(COL5A1):c.12T>C (p.His4=) rs368818087
NM_000093.4(COL5A1):c.1303C>G (p.Pro435Ala) rs377488010
NM_000093.4(COL5A1):c.1307C>T (p.Ala436Val) rs144269434
NM_000093.4(COL5A1):c.1308G>A (p.Ala436=) rs200959477
NM_000093.4(COL5A1):c.1316A>T (p.Asp439Val) rs1060502244
NM_000093.4(COL5A1):c.1333-6_1333-5insAGATTGTC
NM_000093.4(COL5A1):c.1333-8A>G rs145620416
NM_000093.4(COL5A1):c.1340G>A (p.Gly447Glu)
NM_000093.4(COL5A1):c.1345C>T (p.Arg449Trp) rs374020067
NM_000093.4(COL5A1):c.1350C>T (p.Gly450=) rs576332528
NM_000093.4(COL5A1):c.1352A>T (p.Glu451Val) rs1060502243
NM_000093.4(COL5A1):c.1364del (p.Lys455fs) rs1564418237
NM_000093.4(COL5A1):c.1383C>G (p.Ile461Met)
NM_000093.4(COL5A1):c.1383C>T (p.Ile461=) rs61736827
NM_000093.4(COL5A1):c.1384G>C (p.Glu462Gln)
NM_000093.4(COL5A1):c.1388C>T (p.Pro463Leu) rs201375465
NM_000093.4(COL5A1):c.1389+7A>T rs1281999280
NM_000093.4(COL5A1):c.1401C>T (p.Ile467=) rs1452745305
NM_000093.4(COL5A1):c.1402G>A (p.Glu468Lys) rs754948598
NM_000093.4(COL5A1):c.1429G>A (p.Ala477Thr) rs774936702
NM_000093.4(COL5A1):c.1431+10C>T rs1176378428
NM_000093.4(COL5A1):c.1431G>A (p.Ala477=) rs61729545
NM_000093.4(COL5A1):c.1440C>T (p.Pro480=) rs150940930
NM_000093.4(COL5A1):c.1442G>T (p.Gly481Val)
NM_000093.4(COL5A1):c.145C>T (p.His49Tyr) rs372168541
NM_000093.4(COL5A1):c.1462C>T (p.Pro488Ser) rs1238395732
NM_000093.4(COL5A1):c.1476C>T (p.Val492=) rs141093527
NM_000093.4(COL5A1):c.149A>G (p.Asn50Ser) rs79138021
NM_000093.4(COL5A1):c.1507C>T (p.Arg503Cys) rs781485753
NM_000093.4(COL5A1):c.1508G>A (p.Arg503His)
NM_000093.4(COL5A1):c.1539C>T (p.Pro513=) rs151173863
NM_000093.4(COL5A1):c.1540G>A (p.Gly514Ser) rs878853652
NM_000093.4(COL5A1):c.1561A>G (p.Met521Val) rs535161301
NM_000093.4(COL5A1):c.1566G>A (p.Leu522=) rs61737941
NM_000093.4(COL5A1):c.1569+6T>C
NM_000093.4(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045
NM_000093.4(COL5A1):c.1590C>T (p.Gly530=) rs769010469
NM_000093.4(COL5A1):c.1591G>A (p.Asp531Asn)
NM_000093.4(COL5A1):c.1595C>T (p.Ala532Val) rs369000939
NM_000093.4(COL5A1):c.1637C>T (p.Ala546Val) rs557361751
NM_000093.4(COL5A1):c.1638G>A (p.Ala546=) rs775508023
NM_000093.4(COL5A1):c.1668A>G (p.Ala556=) rs750022273
NM_000093.4(COL5A1):c.1701A>C (p.Thr567=) rs143647239
NM_000093.4(COL5A1):c.1719+8A>T rs747192480
NM_000093.4(COL5A1):c.1720-136_1929del
NM_000093.4(COL5A1):c.1726C>T (p.Pro576Ser) rs763246328
NM_000093.4(COL5A1):c.1734C>T (p.Ser578=) rs148094039
NM_000093.4(COL5A1):c.1754C>T (p.Pro585Leu) rs530442560
NM_000093.4(COL5A1):c.1774-7C>A rs371941850
NM_000093.4(COL5A1):c.1780C>T (p.Arg594Ter) rs1554792869
NM_000093.4(COL5A1):c.1787T>C (p.Val596Ala) rs754773665
NM_000093.4(COL5A1):c.1797G>A (p.Pro599=) rs201463583
NM_000093.4(COL5A1):c.1805C>T (p.Pro602Leu) rs749007253
NM_000093.4(COL5A1):c.1816C>T (p.Pro606Ser)
NM_000093.4(COL5A1):c.1831C>T (p.Arg611Trp) rs147329970
NM_000093.4(COL5A1):c.1832G>A (p.Arg611Gln)
NM_000093.4(COL5A1):c.1850C>T (p.Ala617Val)
NM_000093.4(COL5A1):c.186C>T (p.Cys62=) rs778516121
NM_000093.4(COL5A1):c.1882-5delT rs1554793544
NM_000093.4(COL5A1):c.1888C>T (p.Arg630Trp) rs577618553
NM_000093.4(COL5A1):c.1896C>T (p.Phe632=) rs376478864
NM_000093.4(COL5A1):c.1899C>T (p.Asp633=) rs757951119
NM_000093.4(COL5A1):c.1920C>T (p.Gly640=) rs781663334
NM_000093.4(COL5A1):c.1923G>T (p.Glu641Asp)
NM_000093.4(COL5A1):c.1926G>T (p.Lys642Asn) rs918992441
NM_000093.4(COL5A1):c.1935+8T>G rs79195626
NM_000093.4(COL5A1):c.1936-10C>T rs779506561
NM_000093.4(COL5A1):c.193C>T (p.Arg65Trp) rs139468527
NM_000093.4(COL5A1):c.194G>A (p.Arg65Gln) rs116003670
NM_000093.4(COL5A1):c.1953C>T (p.Ser651=) rs78215347
NM_000093.4(COL5A1):c.1970C>T (p.Pro657Leu) rs149912828
NM_000093.4(COL5A1):c.197G>C (p.Arg66Pro)
NM_000093.4(COL5A1):c.1998C>T (p.Asp666=) rs143858735
NM_000093.4(COL5A1):c.2031G>A (p.Glu677=) rs61737719
NM_000093.4(COL5A1):c.2034+1G>A rs886042173
NM_000093.4(COL5A1):c.2042G>A (p.Arg681His)
NM_000093.4(COL5A1):c.2049G>C (p.Leu683=) rs1060504529
NM_000093.4(COL5A1):c.2058G>A (p.Pro686=) rs143443499
NM_000093.4(COL5A1):c.2070A>G (p.Pro690=) rs1060504527
NM_000093.4(COL5A1):c.2088C>T (p.Pro696=) rs146757272
NM_000093.4(COL5A1):c.2089-8G>A rs368595229
NM_000093.4(COL5A1):c.2089-9C>T rs181246690
NM_000093.4(COL5A1):c.2092_2093delinsCA (p.Val698His) rs1554796087
NM_000093.4(COL5A1):c.2096C>T (p.Thr699Met) rs142313124
NM_000093.4(COL5A1):c.2143G>T (p.Gly715Ter) rs1060502258
NM_000093.4(COL5A1):c.2155C>T (p.Pro719Ser) rs1564446104
NM_000093.4(COL5A1):c.2164C>T (p.Gln722Ter) rs1564446117
NM_000093.4(COL5A1):c.2174A>G (p.Asn725Ser) rs142612655
NM_000093.4(COL5A1):c.2181C>T (p.Gly727=)
NM_000093.4(COL5A1):c.2184C>A (p.Ala728=) rs150993138
NM_000093.4(COL5A1):c.2187+4A>G
NM_000093.4(COL5A1):c.2222C>T (p.Pro741Leu) rs1422097890
NM_000093.4(COL5A1):c.2232+4G>C rs1060502257
NM_000093.4(COL5A1):c.2268C>T (p.Pro756=) rs367755808
NM_000093.4(COL5A1):c.2269G>A (p.Gly757Ser) rs1464394247
NM_000093.4(COL5A1):c.226_227AG[1] (p.Arg76fs) rs1060502242
NM_000093.4(COL5A1):c.2285C>T (p.Pro762Leu) rs138259992
NM_000093.4(COL5A1):c.2310T>A (p.Pro770=) rs377123592
NM_000093.4(COL5A1):c.2312C>G (p.Pro771Arg) rs1554797269
NM_000093.4(COL5A1):c.2318A>T (p.Glu773Val)
NM_000093.4(COL5A1):c.2321A>C (p.Lys774Thr) rs1564449370
NM_000093.4(COL5A1):c.2331+4G>C
NM_000093.4(COL5A1):c.2331G>A (p.Gln777=)
NM_000093.4(COL5A1):c.2354C>T (p.Pro785Leu) rs760539229
NM_000093.4(COL5A1):c.2386-3C>G rs1564453831
NM_000093.4(COL5A1):c.2386-6G>A rs373383768
NM_000093.4(COL5A1):c.2386-7C>T rs746845504
NM_000093.4(COL5A1):c.2386-8C>A
NM_000093.4(COL5A1):c.2389delG rs1564453833
NM_000093.4(COL5A1):c.2390C>T (p.Ala797Val)
NM_000093.4(COL5A1):c.2398A>G (p.Ile800Val) rs146870918
NM_000093.4(COL5A1):c.240C>T (p.Asp80=) rs79724538
NM_000093.4(COL5A1):c.2415C>T (p.Gly805=) rs769239532
NM_000093.4(COL5A1):c.2425G>A (p.Glu809Lys) rs1032017865
NM_000093.4(COL5A1):c.2425G>T (p.Glu809Ter)
NM_000093.4(COL5A1):c.2430+1G>A rs1060502248
NM_000093.4(COL5A1):c.2431-7T>C rs1060504531
NM_000093.4(COL5A1):c.2439C>T (p.Asp813=) rs148648778
NM_000093.4(COL5A1):c.2451G>T (p.Gly817=) rs1554798928
NM_000093.4(COL5A1):c.2464A>G (p.Met822Val) rs1060502262
NM_000093.4(COL5A1):c.2482C>T (p.Arg828Trp) rs185912761
NM_000093.4(COL5A1):c.2484+1G>T rs1564455577
NM_000093.4(COL5A1):c.2484+6C>T rs576976549
NM_000093.4(COL5A1):c.2497C>T (p.Pro833Ser) rs370547479
NM_000093.4(COL5A1):c.2518G>C (p.Asp840His) rs1564457054
NM_000093.4(COL5A1):c.252C>T (p.Ser84=) rs151293601
NM_000093.4(COL5A1):c.2538G>A (p.Lys846=) rs751065864
NM_000093.4(COL5A1):c.2543G>A (p.Arg848His) rs767925708
NM_000093.4(COL5A1):c.2544C>A (p.Arg848=) rs201556585
NM_000093.4(COL5A1):c.2555A>G (p.Asn852Ser) rs148146480
NM_000093.4(COL5A1):c.2555A>T (p.Asn852Ile) rs148146480
NM_000093.4(COL5A1):c.2564C>G (p.Pro855Arg) rs150539264
NM_000093.4(COL5A1):c.2565del (p.Gly856fs) rs1564457102
NM_000093.4(COL5A1):c.256C>T (p.Pro86Ser) rs1277995091
NM_000093.4(COL5A1):c.2588A>T (p.Glu863Val) rs139788610
NM_000093.4(COL5A1):c.2647-9C>G rs757930358
NM_000093.4(COL5A1):c.2660del (p.Phe887fs)
NM_000093.4(COL5A1):c.266A>G (p.Gln89Arg) rs1554780187
NM_000093.4(COL5A1):c.2676C>A (p.Gly892=) rs143161140
NM_000093.4(COL5A1):c.2695G>A (p.Gly899Ser) rs149964491
NM_000093.4(COL5A1):c.2700+2T>C
NM_000093.4(COL5A1):c.2701-25T>G rs765079080
NM_000093.4(COL5A1):c.2708C>T (p.Pro903Leu) rs780406577
NM_000093.4(COL5A1):c.2723C>T (p.Pro908Leu) rs772211736
NM_000093.4(COL5A1):c.2724G>A (p.Pro908=) rs41310207
NM_000093.4(COL5A1):c.2724G>C (p.Pro908=) rs41310207
NM_000093.4(COL5A1):c.2734C>T (p.Arg912Ter) rs863223478
NM_000093.4(COL5A1):c.2744C>T (p.Thr915Met) rs771090557
NM_000093.4(COL5A1):c.2750C>T (p.Pro917Leu) rs375600865
NM_000093.4(COL5A1):c.2751G>A (p.Pro917=) rs200319017
NM_000093.4(COL5A1):c.2754G>A (p.Arg918=) rs776715400
NM_000093.4(COL5A1):c.277+6T>G rs201910803
NM_000093.4(COL5A1):c.278C>G (p.Ala93Gly)
NM_000093.4(COL5A1):c.278C>T (p.Ala93Val) rs41306397
NM_000093.4(COL5A1):c.2799+4T>C rs75815945
NM_000093.4(COL5A1):c.279G>A (p.Ala93=) rs145090868
NM_000093.4(COL5A1):c.2809G>A (p.Gly937Arg)
NM_000093.4(COL5A1):c.2812G>C (p.Gly938Arg) rs751950836
NM_000093.4(COL5A1):c.2818G>A (p.Gly940Ser) rs1131691874
NM_000093.4(COL5A1):c.2851A>C (p.Asn951His)
NM_000093.4(COL5A1):c.2852A>G (p.Asn951Ser) rs61736966
NM_000093.4(COL5A1):c.2892C>T (p.Gly964=) rs78511105
NM_000093.4(COL5A1):c.2897del (p.Pro966fs) rs1179967153
NM_000093.4(COL5A1):c.28C>T (p.Arg10Cys) rs1457110544
NM_000093.4(COL5A1):c.2902C>G (p.Pro968Ala) rs1564466152
NM_000093.4(COL5A1):c.2905C>G (p.Pro969Ala)
NM_000093.4(COL5A1):c.292G>A (p.Glu98Lys) rs369126350
NM_000093.4(COL5A1):c.2931C>A (p.His977Gln) rs1564466171
NM_000093.4(COL5A1):c.2946C>T (p.Gly982=) rs1060502253
NM_000093.4(COL5A1):c.2947G>A (p.Glu983Lys) rs146348246
NM_000093.4(COL5A1):c.2952+2_2952+3del
NM_000093.4(COL5A1):c.295G>T (p.Asp99Tyr) rs774095835
NM_000093.4(COL5A1):c.2971G>A (p.Gly991Ser) rs777368013
NM_000093.4(COL5A1):c.297_304dup (p.Ile102fs)
NM_000093.4(COL5A1):c.2983C>A (p.Pro995Thr) rs187022757
NM_000093.4(COL5A1):c.2983C>G (p.Pro995Ala) rs187022757
NM_000093.4(COL5A1):c.2988C>A (p.Pro996=)
NM_000093.4(COL5A1):c.2988del (p.Gly997fs) rs764693725
NM_000093.4(COL5A1):c.2988dup (p.Gly997fs) rs764693725
NM_000093.4(COL5A1):c.2991C>T (p.Gly997=) rs766208976
NM_000093.4(COL5A1):c.2997C>T (p.Val999=) rs201897490
NM_000093.4(COL5A1):c.3015G>T (p.Thr1005=) rs751265351
NM_000093.4(COL5A1):c.3023C>T (p.Thr1008Met) rs199735010
NM_000093.4(COL5A1):c.3037G>A (p.Glu1013Lys) rs1060502249
NM_000093.4(COL5A1):c.3059C>T (p.Pro1020Leu) rs1001786208
NM_000093.4(COL5A1):c.3069C>T (p.Pro1023=) rs139070070
NM_000093.4(COL5A1):c.3082C>T (p.Leu1028Phe) rs762810181
NM_000093.4(COL5A1):c.3086C>T (p.Pro1029Leu)
NM_000093.4(COL5A1):c.3087G>A (p.Pro1029=) rs774035950
NM_000093.4(COL5A1):c.3110C>T (p.Thr1037Met) rs150487609
NM_000093.4(COL5A1):c.3115-10C>T rs1018752469
NM_000093.4(COL5A1):c.3130G>A (p.Ala1044Thr)
NM_000093.4(COL5A1):c.315T>C (p.Thr105=) rs1232024630
NM_000093.4(COL5A1):c.3170G>A (p.Gly1057Asp) rs1554803568
NM_000093.4(COL5A1):c.3185G>A (p.Arg1062Gln) rs771807198
NM_000093.4(COL5A1):c.3203T>G (p.Val1068Gly) rs372109796
NM_000093.4(COL5A1):c.3231A>G (p.Glu1077=) rs376248130
NM_000093.4(COL5A1):c.3233G>A (p.Gly1078Glu) rs1554803631
NM_000093.4(COL5A1):c.3235C>T (p.Pro1079Ser)
NM_000093.4(COL5A1):c.3236C>T (p.Pro1079Leu) rs863223447
NM_000093.4(COL5A1):c.3247C>T (p.Pro1083Ser) rs370321707
NM_000093.4(COL5A1):c.3257C>T (p.Ala1086Val) rs774849517
NM_000093.4(COL5A1):c.3259-8C>T rs146461106
NM_000093.4(COL5A1):c.3263C>G (p.Ser1088Cys) rs1383949759
NM_000093.4(COL5A1):c.3291C>T (p.Ala1097=) rs371821655
NM_000093.4(COL5A1):c.3292G>A (p.Ala1098Thr) rs772521985
NM_000093.4(COL5A1):c.3299C>T (p.Pro1100Leu)
NM_000093.4(COL5A1):c.3303C>A (p.Ile1101=) rs760754491
NM_000093.4(COL5A1):c.3303C>T (p.Ile1101=) rs760754491
NM_000093.4(COL5A1):c.3309_3325dup (p.Pro1109fs) rs1564471440
NM_000093.4(COL5A1):c.3312A>G (p.Pro1104=) rs1554803839
NM_000093.4(COL5A1):c.3369C>T (p.Gly1123=) rs546229885
NM_000093.4(COL5A1):c.3397C>T (p.Arg1133Ter) rs886042045
NM_000093.4(COL5A1):c.3398G>A (p.Arg1133Gln) rs759580799
NM_000093.4(COL5A1):c.3402C>T (p.Asp1134=) rs138251296
NM_000093.4(COL5A1):c.3418G>A (p.Val1140Met) rs149616140
NM_000093.4(COL5A1):c.341C>A (p.Ala114Asp) rs147589613
NM_000093.4(COL5A1):c.3421G>C (p.Gly1141Arg) rs1269224473
NM_000093.4(COL5A1):c.3428C>T (p.Pro1143Leu) rs540131206
NM_000093.4(COL5A1):c.343T>A (p.Phe115Ile) rs1564396163
NM_000093.4(COL5A1):c.3465C>T (p.Asp1155=) rs145134399
NM_000093.4(COL5A1):c.3474+7C>T rs550497696
NM_000093.4(COL5A1):c.3491C>T (p.Pro1164Leu)
NM_000093.4(COL5A1):c.34G>A (p.Ala12Thr) rs1160540030
NM_000093.4(COL5A1):c.3510G>A (p.Lys1170=) rs543950268
NM_000093.4(COL5A1):c.3529-1G>T
NM_000093.4(COL5A1):c.3551C>T (p.Pro1184Leu) rs749093832
NM_000093.4(COL5A1):c.3562A>G (p.Ile1188Val)
NM_000093.4(COL5A1):c.3564C>A (p.Ile1188=) rs766961124
NM_000093.4(COL5A1):c.3584_3585delinsAT (p.Gly1195Asp) rs1060502247
NM_000093.4(COL5A1):c.3591C>T (p.Asp1197=) rs370349155
NM_000093.4(COL5A1):c.3592G>A (p.Gly1198Ser) rs372499629
NM_000093.4(COL5A1):c.35C>A (p.Ala12Glu)
NM_000093.4(COL5A1):c.3656G>C (p.Gly1219Ala) rs1564475073
NM_000093.4(COL5A1):c.3667C>T (p.Pro1223Ser)
NM_000093.4(COL5A1):c.367C>G (p.Gln123Glu) rs142114921
NM_000093.4(COL5A1):c.3684del (p.Leu1229fs) rs1564475090
NM_000093.4(COL5A1):c.3690+6T>A rs375998368
NM_000093.4(COL5A1):c.3691-9T>C rs187584029
NM_000093.4(COL5A1):c.36G>A (p.Ala12=) rs1029930975
NM_000093.4(COL5A1):c.3732C>T (p.Asp1244=) rs377422775
NM_000093.4(COL5A1):c.3733G>A (p.Val1245Met) rs1435045393
NM_000093.4(COL5A1):c.3746delG rs35002351
NM_000093.4(COL5A1):c.3752dup (p.Pro1253fs) rs786205100
NM_000093.4(COL5A1):c.3770G>A (p.Arg1257Gln) rs141768094
NM_000093.4(COL5A1):c.378G>T (p.Gln126His) rs145178917
NM_000093.4(COL5A1):c.37C>T (p.Leu13Phe) rs762625123
NM_000093.4(COL5A1):c.3805C>T (p.Gln1269Ter) rs1554805142
NM_000093.4(COL5A1):c.3812C>G (p.Pro1271Arg) rs771146636
NM_000093.4(COL5A1):c.3812C>T (p.Pro1271Leu) rs771146636
NM_000093.4(COL5A1):c.3852+10G>A rs749190469
NM_000093.4(COL5A1):c.3852+9C>T rs548696863
NM_000093.4(COL5A1):c.3855C>T (p.Gly1285=) rs139544503
NM_000093.4(COL5A1):c.3864C>T (p.Gly1288=)
NM_000093.4(COL5A1):c.3868G>A (p.Ala1290Thr) rs863223451
NM_000093.4(COL5A1):c.3887C>T (p.Pro1296Leu)
NM_000093.4(COL5A1):c.3888G>A (p.Pro1296=) rs375631252
NM_000093.4(COL5A1):c.3905C>T (p.Pro1302Leu) rs201920777
NM_000093.4(COL5A1):c.3906+10C>T rs183881247
NM_000093.4(COL5A1):c.3906+7G>A rs200333878
NM_000093.4(COL5A1):c.3911C>T (p.Pro1304Leu) rs1554805618
NM_000093.4(COL5A1):c.3916G>A (p.Gly1306Arg)
NM_000093.4(COL5A1):c.3921A>G (p.Glu1307=) rs1322220087
NM_000093.4(COL5A1):c.3939G>T (p.Glu1313Asp) rs886063676
NM_000093.4(COL5A1):c.3960C>T (p.Ala1320=) rs1057524173
NM_000093.4(COL5A1):c.3983C>G (p.Pro1328Arg) rs140797509
NM_000093.4(COL5A1):c.3987C>T (p.Pro1329=) rs770802769
NM_000093.4(COL5A1):c.3988G>A (p.Gly1330Arg) rs1060502254
NM_000093.4(COL5A1):c.3991G>A (p.Asp1331Asn) rs545973022
NM_000093.4(COL5A1):c.3999T>C (p.Gly1333=) rs1554805651
NM_000093.4(COL5A1):c.4039C>T (p.Pro1347Ser) rs769470285
NM_000093.4(COL5A1):c.4043G>C (p.Gly1348Ala) rs1060502252
NM_000093.4(COL5A1):c.4044C>T (p.Gly1348=) rs369945188
NM_000093.4(COL5A1):c.4050C>A (p.Pro1350=) rs773853291
NM_000093.4(COL5A1):c.4050C>T (p.Pro1350=) rs773853291
NM_000093.4(COL5A1):c.4065C>T (p.Pro1355=) rs61737906
NM_000093.4(COL5A1):c.4066G>A (p.Ala1356Thr) rs147868179
NM_000093.4(COL5A1):c.4067C>T (p.Ala1356Val) rs766796504
NM_000093.4(COL5A1):c.4068G>A (p.Ala1356=) rs863223452
NM_000093.4(COL5A1):c.4069-1G>T rs1564478485
NM_000093.4(COL5A1):c.406C>T (p.Pro136Ser) rs777625241
NM_000093.4(COL5A1):c.409G>A (p.Val137Ile) rs145757313
NM_000093.4(COL5A1):c.4121C>T (p.Thr1374Met) rs151115748
NM_000093.4(COL5A1):c.4126dup (p.Ser1376fs) rs1131691820
NM_000093.4(COL5A1):c.4135C>T (p.Pro1379Ser) rs61739195
NM_000093.4(COL5A1):c.4144G>A (p.Glu1382Lys) rs1554806121
NM_000093.4(COL5A1):c.4158G>A (p.Ser1386=) rs1383677988
NM_000093.4(COL5A1):c.4162C>T (p.Pro1388Ser) rs61737942
NM_000093.4(COL5A1):c.4172A>G (p.Lys1391Arg) rs201801000
NM_000093.4(COL5A1):c.4175G>A (p.Arg1392Lys) rs863223479
NM_000093.4(COL5A1):c.417C>T (p.Leu139=) rs138687282
NM_000093.4(COL5A1):c.4188C>T (p.Gly1396=)
NM_000093.4(COL5A1):c.4192G>A (p.Ala1398Thr) rs759464073
NM_000093.4(COL5A1):c.4192G>T (p.Ala1398Ser) rs759464073
NM_000093.4(COL5A1):c.4200C>T (p.Pro1400=) rs752468183
NM_000093.4(COL5A1):c.4203del (p.Gly1402fs) rs1060502255
NM_000093.4(COL5A1):c.420C>T (p.Tyr140=) rs540553997
NM_000093.4(COL5A1):c.4212G>C (p.Gln1404His) rs1554806295
NM_000093.4(COL5A1):c.4230+5C>T rs142248898
NM_000093.4(COL5A1):c.4230+6G>A rs77176843
NM_000093.4(COL5A1):c.4231-9G>A rs570545638
NM_000093.4(COL5A1):c.4232delG rs1060502259
NM_000093.4(COL5A1):c.4238C>A (p.Ala1413Asp) rs1564480902
NM_000093.4(COL5A1):c.4275C>G (p.Ile1425Met) rs767372665
NM_000093.4(COL5A1):c.4276G>A (p.Gly1426Ser) rs374868484
NM_000093.4(COL5A1):c.4297A>G (p.Lys1433Glu) rs1554806543
NM_000093.4(COL5A1):c.4307C>T (p.Pro1436Leu) rs752334702
NM_000093.4(COL5A1):c.431C>T (p.Thr144Met) rs561761305
NM_000093.4(COL5A1):c.4326C>A (p.Ile1442=) rs942145911
NM_000093.4(COL5A1):c.4333C>T (p.Pro1445Ser)
NM_000093.4(COL5A1):c.4339-3C>G
NM_000093.4(COL5A1):c.4351C>A (p.Leu1451Ile) rs369740453
NM_000093.4(COL5A1):c.4358G>T (p.Gly1453Val)
NM_000093.4(COL5A1):c.4393-9C>T rs11792181
NM_000093.4(COL5A1):c.4410C>T (p.Pro1470=) rs41310953
NM_000093.4(COL5A1):c.4423G>C (p.Asp1475His) rs1554806674
NM_000093.4(COL5A1):c.4433C>T (p.Pro1478Leu) rs377062537
NM_000093.4(COL5A1):c.4447G>T (p.Gly1483Cys) rs1554806963
NM_000093.4(COL5A1):c.4467G>T (p.Gly1489=) rs878853653
NM_000093.4(COL5A1):c.446C>T (p.Pro149Leu) rs369971694
NM_000093.4(COL5A1):c.4473C>T (p.Ile1491=) rs537768945
NM_000093.4(COL5A1):c.4474G>A (p.Gly1492Ser) rs863223458
NM_000093.4(COL5A1):c.4482G>A (p.Pro1494=) rs2228560
NM_000093.4(COL5A1):c.4487A>G (p.Glu1496Gly)
NM_000093.4(COL5A1):c.4495G>A (p.Glu1499Lys) rs1060502261
NM_000093.4(COL5A1):c.4507C>T (p.Arg1503Cys) rs200987038
NM_000093.4(COL5A1):c.4508G>A (p.Arg1503His) rs373653069
NM_000093.4(COL5A1):c.4522C>A (p.Pro1508Thr) rs148687561
NM_000093.4(COL5A1):c.4536C>T (p.Ser1512=) rs367711669
NM_000093.4(COL5A1):c.4545_4549dup (p.Glu1517fs)
NM_000093.4(COL5A1):c.4554+1G>C rs1564482508
NM_000093.4(COL5A1):c.4560C>T (p.Ile1520=) rs2228559
NM_000093.4(COL5A1):c.4573G>A (p.Gly1525Ser) rs1564484053
NM_000093.4(COL5A1):c.4607C>T (p.Pro1536Leu) rs761837954
NM_000093.4(COL5A1):c.460C>T (p.Leu154Phe) rs1554781521
NM_000093.4(COL5A1):c.4612C>A (p.Pro1538Thr) rs1554807720
NM_000093.4(COL5A1):c.4614G>A (p.Pro1538=) rs762698462
NM_000093.4(COL5A1):c.4643C>T (p.Ser1548Leu) rs147398633
NM_000093.4(COL5A1):c.4652C>T (p.Thr1551Ile) rs863223460
NM_000093.4(COL5A1):c.4654G>A (p.Gly1552Ser) rs1554807811
NM_000093.4(COL5A1):c.4656_4660del (p.Pro1553fs) rs1554807812
NM_000093.4(COL5A1):c.4658C>T (p.Pro1553Leu) rs530570306
NM_000093.4(COL5A1):c.4676A>C (p.His1559Pro)
NM_000093.4(COL5A1):c.4683A>C (p.Gly1561=) rs149959668
NM_000093.4(COL5A1):c.4693C>T (p.Pro1565Ser)
NM_000093.4(COL5A1):c.4698+9C>T rs753030199
NM_000093.4(COL5A1):c.4698G>A (p.Pro1566=) rs147904867
NM_000093.4(COL5A1):c.4699-6C>T rs113090154
NM_000093.4(COL5A1):c.4706C>T (p.Pro1569Leu)
NM_000093.4(COL5A1):c.4717A>G (p.Ile1573Val) rs373448943
NM_000093.4(COL5A1):c.4719C>T (p.Ile1573=) rs966533667
NM_000093.4(COL5A1):c.4739C>T (p.Ala1580Val)
NM_000093.4(COL5A1):c.4753C>T (p.Arg1585Trp) rs546865410
NM_000093.4(COL5A1):c.4754G>A (p.Arg1585Gln) rs531431738
NM_000093.4(COL5A1):c.4765G>A (p.Ala1589Thr) rs377138881
NM_000093.4(COL5A1):c.4788G>C (p.Gly1596=) rs138436047
NM_000093.4(COL5A1):c.4791T>C (p.Asn1597=) rs886063677
NM_000093.4(COL5A1):c.4804G>A (p.Val1602Met) rs201771867
NM_000093.4(COL5A1):c.4805_4813dup (p.Val1602_Tyr1604dup) rs752240390
NM_000093.4(COL5A1):c.4812C>T (p.Tyr1604=) rs542783734
NM_000093.4(COL5A1):c.4836C>T (p.Phe1612=) rs183904215
NM_000093.4(COL5A1):c.484G>C (p.Asp162His) rs1564396342
NM_000093.4(COL5A1):c.4879C>T (p.Arg1627Trp) rs558906147
NM_000093.4(COL5A1):c.4880G>A (p.Arg1627Gln)
NM_000093.4(COL5A1):c.4887G>A (p.Leu1629=)
NM_000093.4(COL5A1):c.4892C>T (p.Thr1631Met) rs764446683
NM_000093.4(COL5A1):c.4897C>G (p.Gln1633Glu)
NM_000093.4(COL5A1):c.4905C>T (p.Pro1635=) rs760426595
NM_000093.4(COL5A1):c.4906G>A (p.Ala1636Thr) rs113452150
NM_000093.4(COL5A1):c.4909C>T (p.Arg1637Cys) rs753433375
NM_000093.4(COL5A1):c.4909del (p.Arg1637fs) rs1564487306
NM_000093.4(COL5A1):c.491+3A>C rs1554781526
NM_000093.4(COL5A1):c.491+9G>A rs752150900
NM_000093.4(COL5A1):c.4910G>A (p.Arg1637His) rs199998065
NM_000093.4(COL5A1):c.4911C>T (p.Arg1637=) rs778483767
NM_000093.4(COL5A1):c.4927C>T (p.Gln1643Ter)
NM_000093.4(COL5A1):c.4940C>T (p.Pro1647Leu)
NM_000093.4(COL5A1):c.4941C>T (p.Pro1647=) rs747549921
NM_000093.4(COL5A1):c.4943A>G (p.Asp1648Gly) rs746071518
NM_000093.4(COL5A1):c.494G>A (p.Trp165Ter)
NM_000093.4(COL5A1):c.4954+4A>G rs1564487377
NM_000093.4(COL5A1):c.4954+6G>C rs1031138847
NM_000093.4(COL5A1):c.4968C>T (p.Val1656=) rs201871481
NM_000093.4(COL5A1):c.4990A>G (p.Arg1664Gly)
NM_000093.4(COL5A1):c.5012G>A (p.Cys1671Tyr) rs1554808357
NM_000093.4(COL5A1):c.502A>G (p.Ile168Val) rs112858705
NM_000093.4(COL5A1):c.5033C>G (p.Ser1678Trp)
NM_000093.4(COL5A1):c.5034G>A (p.Ser1678=) rs148006741
NM_000093.4(COL5A1):c.5039G>T (p.Cys1680Phe)
NM_000093.4(COL5A1):c.5060C>A (p.Ser1687Tyr) rs150083065
NM_000093.4(COL5A1):c.5067+7A>G rs374122742
NM_000093.4(COL5A1):c.5068-7T>C rs113256540
NM_000093.4(COL5A1):c.5097C>G (p.Asn1699Lys) rs138396959
NM_000093.4(COL5A1):c.5137-11T>C rs183495554
NM_000093.4(COL5A1):c.5141_5143del (p.Ser1714del) rs1060502250
NM_000093.4(COL5A1):c.514G>T (p.Val172Phe) rs150147262
NM_000093.4(COL5A1):c.5151C>T (p.Asp1717=) rs61729558
NM_000093.4(COL5A1):c.5155G>T (p.Glu1719Ter)
NM_000093.4(COL5A1):c.5159G>T (p.Gly1720Val) rs1243519195
NM_000093.4(COL5A1):c.5162A>G (p.Asn1721Ser) rs1482037877
NM_000093.4(COL5A1):c.5182A>G (p.Met1728Val) rs138068984
NM_000093.4(COL5A1):c.5190C>T (p.Phe1730=) rs61729481
NM_000093.4(COL5A1):c.5204G>A (p.Ser1735Asn)
NM_000093.4(COL5A1):c.5223C>T (p.Asn1741=) rs144081161
NM_000093.4(COL5A1):c.5224G>A (p.Val1742Ile)
NM_000093.4(COL5A1):c.5234A>G (p.His1745Arg) rs370607849
NM_000093.4(COL5A1):c.5250G>A (p.Val1750=) rs200348547
NM_000093.4(COL5A1):c.526A>C (p.Asn176His) rs369396868
NM_000093.4(COL5A1):c.5270C>T (p.Thr1757Met) rs2229817
NM_000093.4(COL5A1):c.5271G>A (p.Thr1757=) rs142886387
NM_000093.4(COL5A1):c.5280C>T (p.Tyr1760=) rs767284056
NM_000093.4(COL5A1):c.528T>C (p.Asn176=) rs769674770
NM_000093.4(COL5A1):c.5293C>T (p.Arg1765Cys) rs199703883
NM_000093.4(COL5A1):c.5298C>T (p.Phe1766=) rs1231716528
NM_000093.4(COL5A1):c.5299del (p.Leu1767fs) rs1554726279
NM_000093.4(COL5A1):c.52C>T (p.Pro18Ser) rs1060502260
NM_000093.4(COL5A1):c.5303G>A (p.Gly1768Asp)
NM_000093.4(COL5A1):c.5317del (p.Glu1773fs) rs1554726283
NM_000093.4(COL5A1):c.5321T>C (p.Met1774Thr) rs1554726285
NM_000093.4(COL5A1):c.5326T>C (p.Tyr1776His)
NM_000093.4(COL5A1):c.5335A>G (p.Asn1779Asp) rs780400029
NM_000093.4(COL5A1):c.5336_5337delinsG (p.Asn1779fs)
NM_000093.4(COL5A1):c.5338C>T (p.Pro1780Ser) rs781230603
NM_000093.4(COL5A1):c.5339C>A (p.Pro1780His) rs746104317
NM_000093.4(COL5A1):c.5348G>A (p.Arg1783His) rs777045810
NM_000093.4(COL5A1):c.5349C>T (p.Arg1783=) rs140031713
NM_000093.4(COL5A1):c.5350G>A (p.Ala1784Thr) rs143859495
NM_000093.4(COL5A1):c.5371-8T>C rs1352923765
NM_000093.4(COL5A1):c.5389A>C (p.Lys1797Gln) rs560106611
NM_000093.4(COL5A1):c.5407G>A (p.Asp1803Asn) rs61729495
NM_000093.4(COL5A1):c.5420T>A (p.Val1807Glu)
NM_000093.4(COL5A1):c.5432C>T (p.Pro1811Leu) rs1554727362
NM_000093.4(COL5A1):c.5437G>A (p.Val1813Met) rs755914340
NM_000093.4(COL5A1):c.543C>T (p.Leu181=) rs368485498
NM_000093.4(COL5A1):c.5461G>A (p.Gly1821Ser) rs773709219
NM_000093.4(COL5A1):c.5469G>C (p.Ala1823=) rs367657505
NM_000093.4(COL5A1):c.548G>A (p.Cys183Tyr) rs1060502251
NM_000093.4(COL5A1):c.5495G>A (p.Gly1832Glu) rs1554727410
NM_000093.4(COL5A1):c.5497C>T (p.Pro1833Ser) rs370789226
NM_000093.4(COL5A1):c.5498dup (p.Ala1834fs) rs1564191704
NM_000093.4(COL5A1):c.5504G>C (p.Cys1835Ser) rs1060502246
NM_000093.4(COL5A1):c.5514C>T (p.Gly1838=) rs1060504530
NM_000093.4(COL5A1):c.573C>T (p.Leu191=) rs116715381
NM_000093.4(COL5A1):c.574G>A (p.Asp192Asn) rs138579182
NM_000093.4(COL5A1):c.583G>A (p.Asp195Asn) rs781248560
NM_000093.4(COL5A1):c.597C>G (p.Ile199Met) rs147008954
NM_000093.4(COL5A1):c.598G>A (p.Asp200Asn) rs142890619
NM_000093.4(COL5A1):c.603C>T (p.Ile201=) rs747624923
NM_000093.4(COL5A1):c.610A>G (p.Ile204Val) rs1060502245
NM_000093.4(COL5A1):c.61C>T (p.Pro21Ser) rs548525119
NM_000093.4(COL5A1):c.655-1917_690del
NM_000093.4(COL5A1):c.668A>G (p.Gln223Arg) rs1554787531
NM_000093.4(COL5A1):c.67_69CTG[5] (p.Leu28del) rs773994971
NM_000093.4(COL5A1):c.67_69CTG[7] (p.Leu28dup) rs773994971
NM_000093.4(COL5A1):c.680T>C (p.Val227Ala) rs376144196
NM_000093.4(COL5A1):c.683C>T (p.Ser228Leu) rs770737485
NM_000093.4(COL5A1):c.684G>A (p.Ser228=) rs139705205
NM_000093.4(COL5A1):c.692G>A (p.Arg231Gln)
NM_000093.4(COL5A1):c.710G>A (p.Cys237Tyr)
NM_000093.4(COL5A1):c.723C>T (p.Ser241=) rs1554787555
NM_000093.4(COL5A1):c.727G>A (p.Asp243Asn) rs758431206
NM_000093.4(COL5A1):c.735C>T (p.Asp245=) rs746769184
NM_000093.4(COL5A1):c.753C>A (p.Thr251=) rs374813957
NM_000093.4(COL5A1):c.753C>T (p.Thr251=) rs374813957
NM_000093.4(COL5A1):c.754C>T (p.Pro252Ser) rs369781295
NM_000093.4(COL5A1):c.761C>T (p.Ser254Leu) rs144844792
NM_000093.4(COL5A1):c.787-9C>G rs751472921
NM_000093.4(COL5A1):c.792G>A (p.Thr264=) rs757360763
NM_000093.4(COL5A1):c.792G>T (p.Thr264=) rs757360763
NM_000093.4(COL5A1):c.803G>T (p.Gly268Val) rs145552797
NM_000093.4(COL5A1):c.805G>A (p.Glu269Lys) rs761079177
NM_000093.4(COL5A1):c.850G>A (p.Glu284Lys) rs75648697
NM_000093.4(COL5A1):c.860G>A (p.Gly287Glu)
NM_000093.4(COL5A1):c.868C>T (p.Pro290Ser)
NM_000093.4(COL5A1):c.921C>T (p.Pro307=) rs144335980
NM_000093.4(COL5A1):c.922G>A (p.Glu308Lys) rs770173348
NM_000093.4(COL5A1):c.92C>A (p.Pro31Gln)
NM_000093.4(COL5A1):c.935C>T (p.Pro312Leu)
NM_000093.4(COL5A1):c.944C>T (p.Thr315Met) rs145093766
NM_000093.4(COL5A1):c.945G>A (p.Thr315=) rs149123775
NM_000093.4(COL5A1):c.983G>A (p.Gly328Glu) rs576742644
NM_000093.4(COL5A1):c.996C>T (p.Asp332=) rs144763302
NM_000093.4(COL5A1):c.999C>T (p.Val333=) rs138702819
NM_000393.4(COL5A2):c.799-9dup rs1169314276
NM_000393.4(COL5A2):c.961-3delT rs542134887
NM_000393.5(COL5A2):c.1005+10C>T rs767297800
NM_000393.5(COL5A2):c.1006-9C>T rs73978832
NM_000393.5(COL5A2):c.1010C>T (p.Pro337Leu) rs766349082
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+9A>G rs776100559
NM_000393.5(COL5A2):c.1067G>A (p.Arg356Gln) rs761072017
NM_000393.5(COL5A2):c.1076A>G (p.His359Arg)
NM_000393.5(COL5A2):c.1081A>C (p.Met361Leu) rs76148000
NM_000393.5(COL5A2):c.1139C>T (p.Pro380Leu)
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.118G>A (p.Ala40Thr) rs1559108874
NM_000393.5(COL5A2):c.119C>T (p.Ala40Val) rs758092388
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=)
NM_000393.5(COL5A2):c.1311= (p.Pro437=) rs2229495
NM_000393.5(COL5A2):c.1324C>T (p.Pro442Ser) rs1008978987
NM_000393.5(COL5A2):c.1352C>T (p.Ser451Phe) rs778385867
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)
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.1563+5A>G rs777118100
NM_000393.5(COL5A2):c.1570C>T (p.Pro524Ser)
NM_000393.5(COL5A2):c.1579C>T (p.Arg527Cys) rs863223490
NM_000393.5(COL5A2):c.158T>A (p.Ile53Asn)
NM_000393.5(COL5A2):c.1613C>G (p.Pro538Arg)
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)
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)
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.1792C>T (p.Arg598Cys) rs1060501906
NM_000393.5(COL5A2):c.1814T>C (p.Ile605Thr) rs746339285
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.1973C>T (p.Pro658Leu) rs746458284
NM_000393.5(COL5A2):c.1976C>T (p.Pro659Leu) rs145404046
NM_000393.5(COL5A2):c.1977+1G>A
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.2032-7G>A rs141571092
NM_000393.5(COL5A2):c.2092C>A (p.Pro698Thr)
NM_000393.5(COL5A2):c.2101C>A (p.Pro701Thr) rs765785677
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=)
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)
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.2337+8C>T rs999144463
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.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.2544C>T (p.Ala848=) rs370774253
NM_000393.5(COL5A2):c.2554-5T>C rs373495598
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)
NM_000393.5(COL5A2):c.260C>T (p.Thr87Met)
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.263C>A (p.Pro88His) rs149877855
NM_000393.5(COL5A2):c.2641G>A (p.Ala881Thr)
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.2716-4C>T rs111644889
NM_000393.5(COL5A2):c.2741C>T (p.Ala914Val) rs201486858
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)
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.2841T>A (p.Pro947=) rs372780282
NM_000393.5(COL5A2):c.284T>A (p.Val95Asp) rs759604513
NM_000393.5(COL5A2):c.2855G>A (p.Arg952His) rs139264859
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)
NM_000393.5(COL5A2):c.2881C>T (p.Pro961Ser)
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.2929C>T (p.Pro977Ser)
NM_000393.5(COL5A2):c.2947C>T (p.Pro983Ser) rs141644853
NM_000393.5(COL5A2):c.2950G>C (p.Gly984Arg)
NM_000393.5(COL5A2):c.2963C>T (p.Thr988Met) rs369072636
NM_000393.5(COL5A2):c.2964G>A (p.Thr988=) rs1060504380
NM_000393.5(COL5A2):c.2968G>A (p.Gly990Arg) rs1040238147
NM_000393.5(COL5A2):c.2981T>C (p.Ile994Thr)
NM_000393.5(COL5A2):c.3001C>T (p.Arg1001Cys) rs863223507
NM_000393.5(COL5A2):c.3017T>A (p.Met1006Lys) rs930378570
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.3098C>T (p.Pro1033Leu) rs75542756
NM_000393.5(COL5A2):c.315= (p.Thr105=) rs4128539
NM_000393.5(COL5A2):c.3169A>G (p.Thr1057Ala)
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)
NM_000393.5(COL5A2):c.31C>A (p.Leu11Ile)
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.3248G>A (p.Gly1083Asp) rs1559076883
NM_000393.5(COL5A2):c.3268C>T (p.Pro1090Ser) rs761543775
NM_000393.5(COL5A2):c.3283G>A (p.Gly1095Arg)
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.3311G>T (p.Gly1104Val) rs1167178682
NM_000393.5(COL5A2):c.3316C>T (p.Arg1106Trp) rs146789395
NM_000393.5(COL5A2):c.3325A>G (p.Ile1109Val)
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.3407G>A (p.Arg1136Gln) rs562950263
NM_000393.5(COL5A2):c.3411= (p.Gly1137=) rs6434312
NM_000393.5(COL5A2):c.3471+8A>T rs367643805
NM_000393.5(COL5A2):c.3488A>G (p.Gln1163Arg) rs758412337
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)
NM_000393.5(COL5A2):c.3608G>A (p.Gly1203Asp)
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.3638C>T (p.Pro1213Leu)
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.376G>A (p.Gly126Ser) rs779153546
NM_000393.5(COL5A2):c.3791C>T (p.Thr1264Met)
NM_000393.5(COL5A2):c.3794A>G (p.Asp1265Gly) rs200325397
NM_000393.5(COL5A2):c.379A>C (p.Ile127Leu)
NM_000393.5(COL5A2):c.379A>G (p.Ile127Val) rs1064795177
NM_000393.5(COL5A2):c.3837T>C (p.Ile1279=) rs148795690
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.3969A>C (p.Ala1323=) rs1131429
NM_000393.5(COL5A2):c.3975A>G (p.Lys1325=) rs775697182
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.4085A>G (p.Tyr1362Cys)
NM_000393.5(COL5A2):c.4153A>G (p.Thr1385Ala) rs1169417653
NM_000393.5(COL5A2):c.4163C>T (p.Thr1388Ile) rs771415085
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)
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.4357C>T (p.Arg1453Trp)
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.4389A>G (p.Glu1463=) rs146100075
NM_000393.5(COL5A2):c.4392T>C (p.Tyr1464=) rs142544320
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.553G>A (p.Asp185Asn)
NM_000393.5(COL5A2):c.567+7T>C rs755666206
NM_000393.5(COL5A2):c.570G>A (p.Pro190=) rs139666335
NM_000393.5(COL5A2):c.5T>C (p.Met2Thr) rs762874073
NM_000393.5(COL5A2):c.64G>A (p.Val22Ile)
NM_000393.5(COL5A2):c.690+5G>T
NM_000393.5(COL5A2):c.750G>A (p.Pro250=) rs751819198
NM_000393.5(COL5A2):c.75A>G (p.Lys25=) rs549894501
NM_000393.5(COL5A2):c.799-6A>G rs111586240
NM_000393.5(COL5A2):c.859C>T (p.Arg287Cys)
NM_000393.5(COL5A2):c.870T>C (p.Pro290=) rs139656817
NM_000393.5(COL5A2):c.905G>C (p.Arg302Pro)
NM_000393.5(COL5A2):c.955T>C (p.Ser319Pro) rs1060501908
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.3206dup (p.Ala1070Serfs) rs1554803622
NM_001278074.1(COL5A1):c.3583-6dup rs773032514
Single allele

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.