ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome

Included ClinVar conditions (34):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2866
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HGVS dbSNP
COL1A2, EX6DEL
COL1A2, IVS11DS, G-A, +5
COL1A2, IVS24DS, G-C, +1
COL1A2, IVS6DS, G-A, +1
COL1A2, IVS6DS, G-A, -1
COL3A1, GLY373ARG
GRCh37/hg19 9q34.3(chr9:137496881-137648441)
NC_000001.10:g.(?_11994817)_(11994932_?)dup
NC_000001.10:g.(?_12020703)_(12027148_?)dup
NC_000001.11:g.(?_11960646)_(11960767_?)del
NC_000002.12:g.(?_188974470)_(188974588_?)dup
NC_000002.12:g.(?_188974470)_(189580480_?)del
NC_000002.12:g.(?_188988081)_(188991057_?)dup
NC_000002.12:g.(?_189034050)_(189088792_?)dup
NC_000002.12:g.(?_189100087)_(189100159_?)del
NC_000005.10:g.(?_179343747)_(179345348_?)dup
NC_000007.14:g.(?_94395012)_(94395818_?)del
NC_000007.14:g.(?_94395012)_(94399104_?)del
NC_000007.14:g.(?_94407827)_(94408400_?)dup
NC_000009.12:g.(?_134641805)_(134642296_?)dup
NC_000009.12:g.(?_134690892)_(134691099_?)del
NC_000009.12:g.(?_134690892)_(134701353_?)dup
NC_000009.12:g.(?_134690892)_(134763757_?)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.(?_134829956)_(134842323_?)dup
NC_000009.12:g.(?_134834951)_(134835224_?)del
NC_000009.12:g.(?_134842137)_(134842323_?)del
NC_000023.10:g.(?_153576900)_(153599729_?)del
NC_000023.10:g.(?_153577197)_(153579429_?)dup
NC_000023.10:g.(?_153577197)_(153609577_?)dup
NC_000023.10:g.(?_153579929)_(153649363_?)dup
NG_007400.1:g.8207G>A rs72667022
NG_007404.1:g.18817_21308delinsTATGCAAAATCAAAC
NG_007404.1:g.31358_38084del
NG_007404.1:g.32133_36640del
NG_007404.1:g.36239_38993del
NG_007404.1:g.36707_37725del
NG_008159.1:g.(30134_30285)_(38781_39030)dup
NG_023212.2:g.(6563_77264)_(169258_191449)del
NM_000088.3(COL1A1):c.1243C>T (p.Arg415Ter) rs72648326
NM_000088.3(COL1A1):c.1299+1G>A rs66490707
NM_000088.3(COL1A1):c.1375C>A (p.Pro459Thr) rs751299130
NM_000088.3(COL1A1):c.1821+1G>A rs66555264
NM_000088.3(COL1A1):c.2089C>T (p.Arg697Ter) rs72651642
NM_000088.3(COL1A1):c.2362G>A (p.Gly788Ser) rs67879854
NM_000088.3(COL1A1):c.3040C>T (p.Arg1014Cys) rs72653170
NM_000088.3(COL1A1):c.3169G>A (p.Val1057Ile) rs575285203
NM_000088.3(COL1A1):c.3233T>C (p.Val1078Ala) rs767525556
NM_000088.3(COL1A1):c.4196G>A (p.Arg1399His) rs146035171
NM_000088.3(COL1A1):c.472-1G>A
NM_000088.3(COL1A1):c.472-1G>C rs72667020
NM_000088.3(COL1A1):c.472-2A>T
NM_000088.3(COL1A1):c.934C>T (p.Arg312Cys) rs72645347
NM_000088.3(COL1A1):c.985G>C (p.Gly329Arg) rs1555574303
NM_000088.3(COL1A1):c.994G>A (p.Gly332Arg) rs72645357
NM_000089.3(COL1A2):c.*194C>T rs1060399
NM_000089.3(COL1A2):c.*195C>T rs190115417
NM_000089.3(COL1A2):c.*205A>G rs6955879
NM_000089.3(COL1A2):c.*283T>C rs114837909
NM_000089.3(COL1A2):c.*415T>G rs148913603
NM_000089.3(COL1A2):c.*605A>G rs537557756
NM_000089.3(COL1A2):c.*618T>C rs557107553
NM_000089.3(COL1A2):c.*654_*655insGTTGTCC rs3917
NM_000089.3(COL1A2):c.*804G>T rs1062394
NM_000089.3(COL1A2):c.-188C>T rs886062512
NM_000089.3(COL1A2):c.-287C>T rs190926256
NM_000089.3(COL1A2):c.-365A>G rs886062511
NM_000089.3(COL1A2):c.-428G>A rs753974789
NM_000089.3(COL1A2):c.-87C>T rs886062513
NM_000089.3(COL1A2):c.1009G>A (p.Gly337Ser) rs67865220
NM_000089.3(COL1A2):c.1036-12A>G rs41316929
NM_000089.3(COL1A2):c.1036-14G>A rs114322680
NM_000089.3(COL1A2):c.1036-14G>T rs114322680
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.1051G>A (p.Ala351Thr) rs755610740
NM_000089.3(COL1A2):c.1072G>A (p.Gly358Ser) rs66619856
NM_000089.3(COL1A2):c.1127G>T (p.Gly376Val)
NM_000089.3(COL1A2):c.1186C>T (p.Pro396Ser) rs886062515
NM_000089.3(COL1A2):c.1208G>T (p.Gly403Val)
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.1252-6delG rs886062516
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
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+1G>A rs67162110
NM_000089.3(COL1A2):c.1404+4A>C
NM_000089.3(COL1A2):c.1446A>C (p.Pro482=) rs412777
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.1564C>T (p.Pro522Ser) rs199732595
NM_000089.3(COL1A2):c.1576G>A (p.Gly526Arg) rs72658129
NM_000089.3(COL1A2):c.1645C>G (p.Pro549Ala) rs42524
NM_000089.3(COL1A2):c.1665+15A>G rs421587
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.1870C>G (p.Pro624Ala) rs886062517
NM_000089.3(COL1A2):c.1878G>T (p.Val626=) rs1800238
NM_000089.3(COL1A2):c.1964G>A (p.Gly655Glu) rs1554397275
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)
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.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.2163C>T (p.Gly721=) rs150670521
NM_000089.3(COL1A2):c.2168A>G (p.Asn723Ser) rs189374343
NM_000089.3(COL1A2):c.2242G>A (p.Gly748Ser)
NM_000089.3(COL1A2):c.226-1G>C rs66820119
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.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.246T>C (p.Asp82=) rs1800222
NM_000089.3(COL1A2):c.2521G>A (p.Gly841Ser)
NM_000089.3(COL1A2):c.2527G>A (p.Ala843Thr)
NM_000089.3(COL1A2):c.2563G>A (p.Ala855Thr) rs541473356
NM_000089.3(COL1A2):c.2565+1G>A rs72658198
NM_000089.3(COL1A2):c.2566-6A>G rs141088934
NM_000089.3(COL1A2):c.2569C>T (p.Pro857Ser) rs150179964
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+12T>C rs751199493
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.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.293dup (p.Arg99Terfs) rs797044459
NM_000089.3(COL1A2):c.2943+1G>C
NM_000089.3(COL1A2):c.2957C>T (p.Pro986Leu) rs768171831
NM_000089.3(COL1A2):c.2968G>T (p.Ala990Ser)
NM_000089.3(COL1A2):c.298G>A (p.Gly100Ser) rs1410254723
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.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.3135C>T (p.Gly1045=) rs1800248
NM_000089.3(COL1A2):c.3209A>C (p.His1070Pro) rs767399660
NM_000089.3(COL1A2):c.3211C>A (p.Pro1071Thr) rs886062518
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.3336C>T (p.Tyr1112=) rs34691365
NM_000089.3(COL1A2):c.3338A>C (p.Asp1113Ala)
NM_000089.3(COL1A2):c.334G>A (p.Gly112Ser) rs1554395411
NM_000089.3(COL1A2):c.3368G>T (p.Arg1123Leu) rs145541630
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.3601G>T (p.Glu1201Ter) rs72659343
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.3712-13C>T rs74335369
NM_000089.3(COL1A2):c.3754A>G (p.Thr1252Ala) rs761465504
NM_000089.3(COL1A2):c.3792C>T (p.Ala1264=) rs745413783
NM_000089.3(COL1A2):c.3809A>G (p.Tyr1270Cys) rs886062519
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.3883T>C (p.Ser1295Pro) rs757449082
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)
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.433-2A>C
NM_000089.3(COL1A2):c.433-2A>G rs1554395471
NM_000089.3(COL1A2):c.475G>A (p.Val159Ile) rs886062514
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.594+5A>T rs200744314
NM_000089.3(COL1A2):c.595-2A>G
NM_000089.3(COL1A2):c.638_639+6delCAGTAAGT
NM_000089.3(COL1A2):c.671G>A (p.Arg224His) rs771139732
NM_000089.3(COL1A2):c.693+12C>A rs767990110
NM_000089.3(COL1A2):c.70+717A>G rs72656354
NM_000089.3(COL1A2):c.70+8C>T rs982206007
NM_000089.3(COL1A2):c.701G>A (p.Arg234His) rs376341785
NM_000089.3(COL1A2):c.71C>G (p.Ser24Cys) rs763546006
NM_000089.3(COL1A2):c.749G>T (p.Gly250Val)
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.783T>C (p.Pro261=) rs200436925
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.81+8A>C rs765118884
NM_000089.3(COL1A2):c.82-12A>G rs143689469
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.87T>C (p.Thr29=) rs1801182
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.892-13C>G rs200532328
NM_000089.3(COL1A2):c.920G>A (p.Gly307Asp) rs72656390
NM_000089.3(COL1A2):c.936+14C>T rs42518
NM_000089.3(COL1A2):c.937-3C>T rs42519
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_000089.3:c.1020_1031del
NM_000090.3(COL3A1):c.*113C>T rs886055336
NM_000090.3(COL3A1):c.*317C>A rs886055337
NM_000090.3(COL3A1):c.*325C>A rs886055338
NM_000090.3(COL3A1):c.*34T>G rs191843385
NM_000090.3(COL3A1):c.*354C>T rs41265555
NM_000090.3(COL3A1):c.*370A>G rs886055339
NM_000090.3(COL3A1):c.*371G>T rs886055340
NM_000090.3(COL3A1):c.*406A>G rs770571552
NM_000090.3(COL3A1):c.*43A>G rs8224
NM_000090.3(COL3A1):c.*467T>A rs886055341
NM_000090.3(COL3A1):c.*592T>A rs115345151
NM_000090.3(COL3A1):c.*622T>C rs572369155
NM_000090.3(COL3A1):c.*625C>T rs886055342
NM_000090.3(COL3A1):c.*674G>A rs190903102
NM_000090.3(COL3A1):c.*692G>A rs886055343
NM_000090.3(COL3A1):c.*799_*800delAG rs13306265
NM_000090.3(COL3A1):c.*818T>C rs886055344
NM_000090.3(COL3A1):c.*88C>T rs11162
NM_000090.3(COL3A1):c.*89G>A rs886055335
NM_000090.3(COL3A1):c.*923A>T rs146222772
NM_000090.3(COL3A1):c.*947C>T rs886055345
NM_000090.3(COL3A1):c.-101G>A rs41265577
NM_000090.3(COL3A1):c.-80G>A rs41265575
NM_000090.3(COL3A1):c.101A>G (p.His34Arg) rs752110396
NM_000090.3(COL3A1):c.1033G>A (p.Gly345Arg) rs587779419
NM_000090.3(COL3A1):c.1050+6C>T rs528634384
NM_000090.3(COL3A1):c.1051-13G>A rs371934572
NM_000090.3(COL3A1):c.1052G>T (p.Gly351Val) rs587779498
NM_000090.3(COL3A1):c.1068_1069insGACCCTGCA (p.Ala356_Gly357insAspProAla) rs587779579
NM_000090.3(COL3A1):c.1087G>A (p.Gly363Ser) rs587779499
NM_000090.3(COL3A1):c.1096G>A (p.Gly366Arg) rs587779696
NM_000090.3(COL3A1):c.1099_1116delCAAAGAGGAGAACCTGGA (p.Gln367_Gly372del) rs587779525
NM_000090.3(COL3A1):c.1105_1107delGGA (p.Gly369del) rs587779686
NM_000090.3(COL3A1):c.110A>T (p.Gln37Leu) rs1060500205
NM_000090.3(COL3A1):c.1115G>T (p.Gly372Val) rs587779547
NM_000090.3(COL3A1):c.1124G>A (p.Gly375Glu) rs587779569
NM_000090.3(COL3A1):c.1128C>T (p.His376=) rs771015742
NM_000090.3(COL3A1):c.1129G>A (p.Ala377Thr) rs1248348633
NM_000090.3(COL3A1):c.1142G>A (p.Gly381Asp) rs587779544
NM_000090.3(COL3A1):c.1149+1G>A (p.Gly351_Pro383del) rs587779443
NM_000090.3(COL3A1):c.1149+1G>T (p.Gly351_Pro383del) rs587779443
NM_000090.3(COL3A1):c.1149+5G>A (p.Gly351_Pro383del) rs587779538
NM_000090.3(COL3A1):c.114C>G (p.Ser38=) rs141241764
NM_000090.3(COL3A1):c.1150-13T>C rs201839712
NM_000090.3(COL3A1):c.1150-1G>C (p.Gly384_Met398del) rs587779520
NM_000090.3(COL3A1):c.1150-1_1166delinsCCGTCCTGGGCCCTGGTGGTATACAAACCTGGTATACCACC (p.Gly384_Met398del) rs587779612
NM_000090.3(COL3A1):c.1165A>T (p.Asn389Tyr) rs200394946
NM_000090.3(COL3A1):c.1173delT (p.Pro392Leufs) rs1553507863
NM_000090.3(COL3A1):c.1189_1194+23del (p.Gly384_Met398del) rs587779430
NM_000090.3(COL3A1):c.1194+1G>A (p.Gly384_Met398del) rs587779459
NM_000090.3(COL3A1):c.1194+1G>C (p.Gly384_Met398del) rs587779459
NM_000090.3(COL3A1):c.1194+9T>C rs1244921213
NM_000090.3(COL3A1):c.1196G>C (p.Gly399Ala) rs1060500194
NM_000090.3(COL3A1):c.1198C>T (p.Pro400Ser) rs1229093142
NM_000090.3(COL3A1):c.119C>T (p.Ala40Val) rs201380807
NM_000090.3(COL3A1):c.1201G>A (p.Ala401Thr)
NM_000090.3(COL3A1):c.1231G>C (p.Gly411Arg) rs587779534
NM_000090.3(COL3A1):c.1235C>T (p.Ala412Val) rs1057519250
NM_000090.3(COL3A1):c.1240G>T (p.Gly414Cys) rs587779485
NM_000090.3(COL3A1):c.1241G>T (p.Gly414Val) rs794728044
NM_000090.3(COL3A1):c.1249G>A (p.Gly417Arg) rs587779637
NM_000090.3(COL3A1):c.1257C>T (p.Ala419=) rs41272837
NM_000090.3(COL3A1):c.1258G>A (p.Gly420Ser) rs587779692
NM_000090.3(COL3A1):c.1267G>A (p.Gly423Ser) rs587779631
NM_000090.3(COL3A1):c.1268G>A (p.Gly423Asp) rs587779586
NM_000090.3(COL3A1):c.1293+15T>A rs2271679
NM_000090.3(COL3A1):c.1294-1G>C rs1060500204
NM_000090.3(COL3A1):c.1294-3T>G (p.Gly432_Arg449del) rs587779496
NM_000090.3(COL3A1):c.1297G>A (p.Glu433Lys) rs150670470
NM_000090.3(COL3A1):c.130G>A (p.Val44Ile) rs79632685
NM_000090.3(COL3A1):c.1330G>A (p.Gly444Arg) rs587779489
NM_000090.3(COL3A1):c.1330G>C (p.Gly444Arg) rs587779489
NM_000090.3(COL3A1):c.1335A>G (p.Pro445=) rs1193108024
NM_000090.3(COL3A1):c.1337G>A (p.Arg446His) rs149852181
NM_000090.3(COL3A1):c.1347+1G>A (p.Arg449_Gly450insValSerPheThrAlaThrAspLeu+) rs397509370
NM_000090.3(COL3A1):c.1347+1G>T (p.Arg449_Gly450insValSerPheThrAlaThrAspLeu+) rs397509370
NM_000090.3(COL3A1):c.1347+3A>C (p.Arg449_Gly450insValSerPheThrAlaThrAspLeu+) rs587779453
NM_000090.3(COL3A1):c.1347+5G>C (p.Arg449_Gly450insValSerPheThrAlaThrAspLeu+) rs587779721
NM_000090.3(COL3A1):c.1348-4delT rs758567906
NM_000090.3(COL3A1):c.1348-4dupT rs758567906
NM_000090.3(COL3A1):c.134G>A (p.Trp45Ter)
NM_000090.3(COL3A1):c.1351G>A (p.Glu451Lys)
NM_000090.3(COL3A1):c.1358G>A (p.Gly453Asp) rs587779621
NM_000090.3(COL3A1):c.1384G>A (p.Gly462Ser) rs587779633
NM_000090.3(COL3A1):c.13G>A (p.Val5Met) rs1461198652
NM_000090.3(COL3A1):c.1410delT (p.Gly471Glufs) rs587779665
NM_000090.3(COL3A1):c.1455+133_1978-178del (p.Gly486_Pro659del)
NM_000090.3(COL3A1):c.1456-10T>G (p.Arg485_Gly486insTyrPheGln) rs587779701
NM_000090.3(COL3A1):c.1456-13_1499del (p.Gly486_Lys503del) rs1553508025
NM_000090.3(COL3A1):c.1466G>A (p.Gly489Glu) rs587779476
NM_000090.3(COL3A1):c.1471C>T (p.Arg491Ter) rs1057518075
NM_000090.3(COL3A1):c.1475G>A (p.Gly492Glu) rs587779500
NM_000090.3(COL3A1):c.1475G>T (p.Gly492Val) rs587779500
NM_000090.3(COL3A1):c.1476A>C (p.Gly492=) rs111683983
NM_000090.3(COL3A1):c.1484G>A (p.Gly495Glu) rs1057524653
NM_000090.3(COL3A1):c.1496T>C (p.Ile499Thr) rs1001748912
NM_000090.3(COL3A1):c.1501G>A (p.Gly501Arg) rs587779523
NM_000090.3(COL3A1):c.1502G>A (p.Gly501Glu)
NM_000090.3(COL3A1):c.1509+224_1510-71delinsNM_000090.3:c.799-118_852+62 (p.Lys503_Gly504insGFDGRNGEKGETGAPGLK)
NM_000090.3(COL3A1):c.1509+2T>C rs1553508039
NM_000090.3(COL3A1):c.1509+5A>G rs572863064
NM_000090.3(COL3A1):c.1509+7A>C rs201740954
NM_000090.3(COL3A1):c.1509+7_1509+21delAACTTTAGTTTCTAT rs781662866
NM_000090.3(COL3A1):c.1511G>T (p.Gly504Val) rs587779632
NM_000090.3(COL3A1):c.1525C>T (p.Arg509Cys) rs1485092842
NM_000090.3(COL3A1):c.1550C>T (p.Pro517Leu) rs142085247
NM_000090.3(COL3A1):c.1556G>A (p.Gly519Glu) rs587779693
NM_000090.3(COL3A1):c.1584C>T (p.Gly528=) rs946270867
NM_000090.3(COL3A1):c.1585G>A (p.Val529Ile) rs140257722
NM_000090.3(COL3A1):c.1594G>A (p.Gly532Ser)
NM_000090.3(COL3A1):c.1609-17T>G rs1468376126
NM_000090.3(COL3A1):c.1610delG (p.Gly537Alafs) rs587779702
NM_000090.3(COL3A1):c.1617C>A (p.Pro539=) rs141091206
NM_000090.3(COL3A1):c.1617C>T (p.Pro539=) rs141091206
NM_000090.3(COL3A1):c.1618G>A (p.Gly540Arg) rs587779584
NM_000090.3(COL3A1):c.1642G>A (p.Asp548Asn) rs1293397335
NM_000090.3(COL3A1):c.1646G>A (p.Gly549Glu) rs587779679
NM_000090.3(COL3A1):c.1652delC (p.Pro551Glnfs) rs1060500199
NM_000090.3(COL3A1):c.1655G>A (p.Gly552Glu) rs121912928
NM_000090.3(COL3A1):c.1659T>A (p.Pro553=) rs41263751
NM_000090.3(COL3A1):c.1662+1G>A (p.Gly537_Pro554del) rs587779535
NM_000090.3(COL3A1):c.1662+1G>C (p.Gly537_Pro554del) rs587779535
NM_000090.3(COL3A1):c.1662+1G>T (p.Gly537_Pro554del) rs587779535
NM_000090.3(COL3A1):c.1662+2dupT (p.Gly537_Pro554del) rs587779537
NM_000090.3(COL3A1):c.1662C>T (p.Pro554=) rs373963384
NM_000090.3(COL3A1):c.1684C>T (p.Arg562Ter)
NM_000090.3(COL3A1):c.1694C>A (p.Pro565His) rs144260440
NM_000090.3(COL3A1):c.1697C>T (p.Pro566Leu) rs150543864
NM_000090.3(COL3A1):c.1701G>A (p.Gly567=) rs765802289
NM_000090.3(COL3A1):c.1701_2391+367del (p.Gly555_Pro797del)
NM_000090.3(COL3A1):c.1708G>A (p.Gly570Ser) rs1553508238
NM_000090.3(COL3A1):c.1716A>C (p.Arg572=) rs751916055
NM_000090.3(COL3A1):c.1744G>A (p.Gly582Ser) rs121912923
NM_000090.3(COL3A1):c.1744G>C (p.Gly582Arg) rs121912923
NM_000090.3(COL3A1):c.1744G>T (p.Gly582Cys) rs121912923
NM_000090.3(COL3A1):c.1761+15_1870-100del (p.Gly588_Thr623del)
NM_000090.3(COL3A1):c.1761+2T>C (p.Gly555_Asp587del) rs587779530
NM_000090.3(COL3A1):c.1761+2T>G (p.Gly555_Asp587del) rs587779530
NM_000090.3(COL3A1):c.1761+4_1761+5del (p.Gly555_Asp587del)
NM_000090.3(COL3A1):c.1761+5G>A (p.Gly555_Asp587del) rs397509372
NM_000090.3(COL3A1):c.1761+5G>T rs397509372
NM_000090.3(COL3A1):c.1761+6T>C
NM_000090.3(COL3A1):c.1762-11T>G rs761637298
NM_000090.3(COL3A1):c.1762-2A>G (p.Gly588_Gln605del) rs587779722
NM_000090.3(COL3A1):c.1762G>A (p.Gly588Ser) rs1553508338
NM_000090.3(COL3A1):c.1763G>A (p.Gly588Asp) rs587779691
NM_000090.3(COL3A1):c.1763_1769delGTGCTCCinsTAAG (p.Gly588_Pro590delinsValSer) rs587779510
NM_000090.3(COL3A1):c.1770T>C (p.Pro590=) rs80302667
NM_000090.3(COL3A1):c.1773dupT (p.Lys592Terfs) rs587779608
NM_000090.3(COL3A1):c.1786C>T (p.Arg596Ter) rs587779527
NM_000090.3(COL3A1):c.178G>A (p.Val60Ile) rs762028131
NM_000090.3(COL3A1):c.1804C>A (p.Pro602Thr) rs35795890
NM_000090.3(COL3A1):c.1804C>G (p.Pro602Ala)
NM_000090.3(COL3A1):c.1808G>A (p.Gly603Asp) rs587779477
NM_000090.3(COL3A1):c.1808G>T (p.Gly603Val) rs587779477
NM_000090.3(COL3A1):c.1808delG (p.Gly603Alafs) rs587779594
NM_000090.3(COL3A1):c.1815+5G>A rs146652498
NM_000090.3(COL3A1):c.1816-14G>C rs7579815
NM_000090.3(COL3A1):c.1816-19T>C rs114299724
NM_000090.3(COL3A1):c.1816G>C (p.Gly606Arg) rs587779613
NM_000090.3(COL3A1):c.1820C>T (p.Pro607Leu) rs1039226542
NM_000090.3(COL3A1):c.1831_1832del (p.Asn611Trpfs) rs587779462
NM_000090.3(COL3A1):c.1844G>A (p.Gly615Glu) rs587779634
NM_000090.3(COL3A1):c.1851G>A (p.Gln617=) rs7579903
NM_000090.3(COL3A1):c.1856C>T (p.Pro619Leu) rs373838193
NM_000090.3(COL3A1):c.1861G>C (p.Gly621Arg) rs587779616
NM_000090.3(COL3A1):c.1861G>T (p.Gly621Trp) rs587779616
NM_000090.3(COL3A1):c.1862G>A (p.Gly621Glu) rs587779539
NM_000090.3(COL3A1):c.1862G>T (p.Gly621Val) rs587779539
NM_000090.3(COL3A1):c.1869+1G>C (p.Gly606_Thr623del) rs587779600
NM_000090.3(COL3A1):c.1869+5G>A rs397509376
NM_000090.3(COL3A1):c.1869+5G>T (p.Gly606_Thr623del) rs397509376
NM_000090.3(COL3A1):c.186C>T (p.Cys62=) rs764749176
NM_000090.3(COL3A1):c.1870-2A>G (p.Gly624_Gln641del) rs587779575
NM_000090.3(COL3A1):c.1870-2A>T (p.Gly624_Gln641del) rs587779575
NM_000090.3(COL3A1):c.1870-9C>T rs777339506
NM_000090.3(COL3A1):c.1886A>G (p.Lys629Arg) rs1553508467
NM_000090.3(COL3A1):c.1898G>A (p.Gly633Glu) rs587779611
NM_000090.3(COL3A1):c.1906G>C (p.Gly636Arg) rs587779522
NM_000090.3(COL3A1):c.1915G>A (p.Gly639Arg) rs587779435
NM_000090.3(COL3A1):c.1915G>C (p.Gly639Arg) rs587779435
NM_000090.3(COL3A1):c.1916G>A (p.Gly639Glu) rs587779421
NM_000090.3(COL3A1):c.1923+1G>A (p.Gly624_Gln641del) rs587779573
NM_000090.3(COL3A1):c.1923+1G>C (p.Gly624_Gln641del) rs587779573
NM_000090.3(COL3A1):c.1923+2_1923+5del (p.Gly624_Gln641del) rs786200946
NM_000090.3(COL3A1):c.1924-4C>T rs755814664
NM_000090.3(COL3A1):c.1925G>T (p.Gly642Val) rs587779661
NM_000090.3(COL3A1):c.1927T>C (p.Leu643=) rs41263757
NM_000090.3(COL3A1):c.1961G>A (p.Gly654Glu) rs587779620
NM_000090.3(COL3A1):c.1970G>A (p.Gly657Glu) rs587779699
NM_000090.3(COL3A1):c.1972G>A (p.Glu658Lys) rs189846410
NM_000090.3(COL3A1):c.1974_1977+4del (p.Gly642_Pro659del) rs587779475
NM_000090.3(COL3A1):c.1977+2T>G (p.Gly642_Pro659del) rs587779603
NM_000090.3(COL3A1):c.1977+5G>C rs1553508544
NM_000090.3(COL3A1):c.1977+9C>T rs184223621
NM_000090.3(COL3A1):c.1978-11C>T rs13306272
NM_000090.3(COL3A1):c.1978-6_1981del (p.Gly660_Lys662del) rs587779700
NM_000090.3(COL3A1):c.1979G>A (p.Gly660Asp) rs587779493
NM_000090.3(COL3A1):c.1980T>C (p.Gly660=) rs1553508597
NM_000090.3(COL3A1):c.1987G>C (p.Gly663Arg) rs587779433
NM_000090.3(COL3A1):c.1988G>A (p.Gly663Asp) rs587779454
NM_000090.3(COL3A1):c.1988G>T (p.Gly663Val) rs587779454
NM_000090.3(COL3A1):c.198A>G (p.Ile66Met) rs372269408
NM_000090.3(COL3A1):c.1997G>A (p.Gly666Asp) rs121912921
NM_000090.3(COL3A1):c.2002C>A (p.Pro668Thr) rs1801183
NM_000090.3(COL3A1):c.2002C>T (p.Pro668Ser) rs1801183
NM_000090.3(COL3A1):c.2022+2T>C (p.Gly660_Lys674del) rs587779429
NM_000090.3(COL3A1):c.2022+5T>C rs41263765
NM_000090.3(COL3A1):c.2022+6A>T rs368117488
NM_000090.3(COL3A1):c.2022G>A (p.Lys674=) rs587779643
NM_000090.3(COL3A1):c.2022G>T (p.Lys674Asn) rs587779643
NM_000090.3(COL3A1):c.2023-1G>A (p.Gly675Valfs*116) rs587779708
NM_000090.3(COL3A1):c.2024G>T (p.Gly675Val) rs587779597
NM_000090.3(COL3A1):c.2035G>A (p.Ala679Thr) rs41263773
NM_000090.3(COL3A1):c.203A>G (p.Asp68Gly) rs376603102
NM_000090.3(COL3A1):c.2048G>A (p.Arg683His) rs753162027
NM_000090.3(COL3A1):c.204C>T (p.Asp68=) rs368299739
NM_000090.3(COL3A1):c.2051G>T (p.Gly684Val) rs587779587
NM_000090.3(COL3A1):c.2056C>G (p.Pro686Ala) rs41263775
NM_000090.3(COL3A1):c.2059G>C (p.Gly687Arg) rs587779577
NM_000090.3(COL3A1):c.2065G>T (p.Ala689Ser) rs886055331
NM_000090.3(COL3A1):c.2068G>A (p.Gly690Arg) rs587779474
NM_000090.3(COL3A1):c.2069G>T (p.Gly690Val) rs587779458
NM_000090.3(COL3A1):c.2074C>A (p.Pro692Thr)
NM_000090.3(COL3A1):c.2078G>C (p.Gly693Ala) rs587779442
NM_000090.3(COL3A1):c.2087G>A (p.Gly696Asp) rs587779591
NM_000090.3(COL3A1):c.2092G>A (p.Ala698Thr) rs1800255
NM_000090.3(COL3A1):c.2095G>C (p.Gly699Arg) rs587779668
NM_000090.3(COL3A1):c.2096G>A (p.Gly699Asp) rs587779706
NM_000090.3(COL3A1):c.2105G>A (p.Gly702Asp) rs587779512
NM_000090.3(COL3A1):c.2105G>T (p.Gly702Val) rs587779512
NM_000090.3(COL3A1):c.2107C>T (p.Pro703Ser) rs780123051
NM_000090.3(COL3A1):c.2109C>T (p.Pro703=) rs746947080
NM_000090.3(COL3A1):c.2110G>A (p.Glu704Lys) rs863223362
NM_000090.3(COL3A1):c.2113G>A (p.Gly705Arg) rs587779623
NM_000090.3(COL3A1):c.2114G>A (p.Gly705Glu) rs587779460
NM_000090.3(COL3A1):c.2121+1G>C (p.Gly675_Lys707del) rs587779675
NM_000090.3(COL3A1):c.2122_2148del (p.Pro712_Gly720del) rs587779560
NM_000090.3(COL3A1):c.2123G>T (p.Gly708Val) rs111929073
NM_000090.3(COL3A1):c.2131G>A (p.Gly711Ser) rs587779695
NM_000090.3(COL3A1):c.2135C>T (p.Pro712Leu) rs780028064
NM_000090.3(COL3A1):c.2140G>A (p.Gly714Arg) rs587779437
NM_000090.3(COL3A1):c.2141G>A (p.Gly714Glu) rs587779678
NM_000090.3(COL3A1):c.2142_2168del (p.Pro715_Gly723del) rs587779657
NM_000090.3(COL3A1):c.2150G>A (p.Gly717Asp) rs587779549
NM_000090.3(COL3A1):c.2156C>G (p.Ala719Gly)
NM_000090.3(COL3A1):c.2168G>A (p.Gly723Asp) rs587779581
NM_000090.3(COL3A1):c.2176G>A (p.Gly726Arg) rs587779638
NM_000090.3(COL3A1):c.2177G>A (p.Gly726Glu) rs587779698
NM_000090.3(COL3A1):c.217G>C (p.Asp73His) rs200246388
NM_000090.3(COL3A1):c.2185G>A (p.Gly729Arg) rs587779543
NM_000090.3(COL3A1):c.2186G>A (p.Gly729Glu) rs587779680
NM_000090.3(COL3A1):c.2194G>A (p.Gly732Arg) rs587779606
NM_000090.3(COL3A1):c.2199T>C (p.Gly733=) rs762547633
NM_000090.3(COL3A1):c.2203G>A (p.Gly735Arg) rs587779484
NM_000090.3(COL3A1):c.2212G>A (p.Gly738Ser) rs121912925
NM_000090.3(COL3A1):c.2212G>T (p.Gly738Cys) rs121912925
NM_000090.3(COL3A1):c.2213G>T (p.Gly738Val) rs587779615
NM_000090.3(COL3A1):c.2220G>A (p.Lys740=) rs541557925
NM_000090.3(COL3A1):c.2221G>A (p.Gly741Ser) rs587779685
NM_000090.3(COL3A1):c.2222G>A (p.Gly741Asp) rs553203474
NM_000090.3(COL3A1):c.2231G>T (p.Gly744Val) rs587779697
NM_000090.3(COL3A1):c.2238A>G (p.Pro746=) rs1311262989
NM_000090.3(COL3A1):c.2241C>T (p.Gly747=) rs745440847
NM_000090.3(COL3A1):c.2242G>A (p.Gly748Ser) rs771585795
NM_000090.3(COL3A1):c.2244T>C (p.Gly748=) rs1801184
NM_000090.3(COL3A1):c.2247A>G (p.Pro749=) rs1553508706
NM_000090.3(COL3A1):c.2264C>A (p.Pro755Gln) rs1553508711
NM_000090.3(COL3A1):c.226A>G (p.Asn76Asp) rs142045411
NM_000090.3(COL3A1):c.2274T>C (p.Asp758=) rs1060503872
NM_000090.3(COL3A1):c.2276G>A (p.Gly759Asp) rs587779418
NM_000090.3(COL3A1):c.2283+1G>A
NM_000090.3(COL3A1):c.2284-109_3489del (p.Gly762_Glu1175del)
NM_000090.3(COL3A1):c.2284-2A>G (p.Gly762_Lys779del) rs587779558
NM_000090.3(COL3A1):c.2284G>C (p.Gly762Arg) rs587779694
NM_000090.3(COL3A1):c.2285G>A (p.Gly762Asp) rs587779541
NM_000090.3(COL3A1):c.2285G>T (p.Gly762Val) rs587779541
NM_000090.3(COL3A1):c.2293G>A (p.Gly765Ser) rs587779630
NM_000090.3(COL3A1):c.2294G>T (p.Gly765Val) rs587779492
NM_000090.3(COL3A1):c.2312G>A (p.Gly771Asp) rs1060500193
NM_000090.3(COL3A1):c.2337+1G>A (p.Gly762_Lys779del) rs587779663
NM_000090.3(COL3A1):c.2337+2T>C (p.Gly762_Lys779del) rs587779513
NM_000090.3(COL3A1):c.2337+7C>A rs1060503874
NM_000090.3(COL3A1):c.2337G>A (p.Lys779=) rs587779461
NM_000090.3(COL3A1):c.2356G>A (p.Gly786Arg) rs113485686
NM_000090.3(COL3A1):c.2357G>T (p.Gly786Val) rs587779564
NM_000090.3(COL3A1):c.2364A>G (p.Pro788=) rs886055332
NM_000090.3(COL3A1):c.2392-3_2395del
NM_000090.3(COL3A1):c.2399G>A (p.Arg800Lys) rs199564715
NM_000090.3(COL3A1):c.2402G>A (p.Gly801Asp) rs587779689
NM_000090.3(COL3A1):c.2437G>A (p.Gly813Ser) rs397509369
NM_000090.3(COL3A1):c.2445+2dupT (p.Gly798_Pro815del) rs587779572
NM_000090.3(COL3A1):c.2445+5G>A (p.Gly798_Pro815del) rs587779636
NM_000090.3(COL3A1):c.2445T>G (p.Pro815=) rs199727625
NM_000090.3(COL3A1):c.2446-10T>C rs1060500195
NM_000090.3(COL3A1):c.2482G>T (p.Gly828Trp) rs587779486
NM_000090.3(COL3A1):c.2489C>T (p.Pro830Leu) rs886038849
NM_000090.3(COL3A1):c.2490G>A (p.Pro830=) rs777361888
NM_000090.3(COL3A1):c.2490G>C (p.Pro830=) rs777361888
NM_000090.3(COL3A1):c.2490_2516del (p.Glu832_Gly840del) rs397509374
NM_000090.3(COL3A1):c.2493T>C (p.Gly831=) rs551541918
NM_000090.3(COL3A1):c.2498A>G (p.Lys833Arg) rs371344739
NM_000090.3(COL3A1):c.2501G>A (p.Gly834Asp) rs587779642
NM_000090.3(COL3A1):c.2510G>A (p.Gly837Asp) rs587779526
NM_000090.3(COL3A1):c.2534dupC (p.Gly846Trpfs) rs587779653
NM_000090.3(COL3A1):c.2550T>C (p.Pro850=) rs794727586
NM_000090.3(COL3A1):c.2553+1G>A (p.Gly816_Ala851del) rs587779664
NM_000090.3(COL3A1):c.2553+1G>C (p.Gly816_Ala851del) rs587779664
NM_000090.3(COL3A1):c.2553+1delG (p.Gly816_Ala851del) rs587779514
NM_000090.3(COL3A1):c.2553+2T>C (p.Gly816_Ala851del) rs587779684
NM_000090.3(COL3A1):c.2553+3A>T (p.Gly816_Ala851del) rs587779713
NM_000090.3(COL3A1):c.2553+5G>T rs397509371
NM_000090.3(COL3A1):c.2554-1G>A (p.Gly852Valfs*384) rs587779519
NM_000090.3(COL3A1):c.2554G>T (p.Gly852Cys) rs587779690
NM_000090.3(COL3A1):c.2555G>A (p.Gly852Asp) rs587779494
NM_000090.3(COL3A1):c.2558_2559insATTAGGTGTCAAAGGTGAACGTGGCAG (p.Pro853_Pro854insLeuGlyValLysGlyGluArgGlySer) rs1135402747
NM_000090.3(COL3A1):c.2564G>A (p.Gly855Asp) rs587779466
NM_000090.3(COL3A1):c.2569C>T (p.Gln857Ter)
NM_000090.3(COL3A1):c.2573G>T (p.Gly858Val) rs587779717
NM_000090.3(COL3A1):c.2600G>A (p.Gly867Asp) rs587779417
NM_000090.3(COL3A1):c.2606C>A (p.Pro869His) rs794728052
NM_000090.3(COL3A1):c.2607+5G>A (p.Gly852_Pro869del) rs587779457
NM_000090.3(COL3A1):c.2607+5G>T (p.Gly852_Pro869del) rs587779457
NM_000090.3(COL3A1):c.2608-?_3255+?del (p.Gly870_Pro1085del)
NM_000090.3(COL3A1):c.2636G>T (p.Gly879Val) rs587779645
NM_000090.3(COL3A1):c.2645G>A (p.Gly882Asp) rs587779622
NM_000090.3(COL3A1):c.2655_2661+7delinsGACCTGAGAC (p.Ser886Thrfs*2) rs587779590
NM_000090.3(COL3A1):c.266C>T (p.Pro89Leu) rs139610730
NM_000090.3(COL3A1):c.2675C>T (p.Pro892Leu) rs1447793042
NM_000090.3(COL3A1):c.2681G>C (p.Gly894Ala) rs587779589
NM_000090.3(COL3A1):c.2699G>A (p.Gly900Asp) rs587779599
NM_000090.3(COL3A1):c.2700C>T (p.Gly900=) rs112164939
NM_000090.3(COL3A1):c.2708G>A (p.Gly903Glu) rs587779505
NM_000090.3(COL3A1):c.2712C>T (p.Pro904=) rs375673185
NM_000090.3(COL3A1):c.2714C>T (p.Pro905Leu) rs886055333
NM_000090.3(COL3A1):c.2723C>T (p.Ala908Val) rs144036995
NM_000090.3(COL3A1):c.2724G>A (p.Ala908=) rs754015151
NM_000090.3(COL3A1):c.2726G>T (p.Gly909Val) rs587779483
NM_000090.3(COL3A1):c.272C>T (p.Pro91Leu) rs534898281
NM_000090.3(COL3A1):c.2733T>C (p.Thr911=) rs138961881
NM_000090.3(COL3A1):c.2735G>A (p.Gly912Asp) rs587779716
NM_000090.3(COL3A1):c.2752G>A (p.Gly918Arg) rs1085307896
NM_000090.3(COL3A1):c.2753G>A (p.Gly918Glu) rs587779662
NM_000090.3(COL3A1):c.2762G>A (p.Gly921Glu) rs1553509187
NM_000090.3(COL3A1):c.2770G>A (p.Gly924Ser) rs587779471
NM_000090.3(COL3A1):c.2770G>T (p.Gly924Cys) rs587779471
NM_000090.3(COL3A1):c.2771G>A (p.Gly924Asp) rs587779450
NM_000090.3(COL3A1):c.2771G>T (p.Gly924Val) rs587779450
NM_000090.3(COL3A1):c.2780G>A (p.Gly927Asp) rs587779432
NM_000090.3(COL3A1):c.2805T>C (p.Pro935=) rs111567071
NM_000090.3(COL3A1):c.2806G>C (p.Gly936Arg) rs587779566
NM_000090.3(COL3A1):c.2815G>A (p.Gly939Ser) rs587779550
NM_000090.3(COL3A1):c.2815G>T (p.Gly939Cys) rs587779550
NM_000090.3(COL3A1):c.2819C>A (p.Pro940Gln)
NM_000090.3(COL3A1):c.2823+1G>A (p.Gly942Valfs*28) rs587779424
NM_000090.3(COL3A1):c.2824-1G>A (p.Gly942Glufs*294) rs587779617
NM_000090.3(COL3A1):c.2824-9C>T rs1553509204
NM_000090.3(COL3A1):c.2824G>A (p.Gly942Arg) rs587779438
NM_000090.3(COL3A1):c.2825G>A (p.Gly942Glu) rs587779517
NM_000090.3(COL3A1):c.2828delC (p.Ala943Valfs) rs1553509208
NM_000090.3(COL3A1):c.2833G>A (p.Gly945Ser) rs587779567
NM_000090.3(COL3A1):c.2839C>T (p.Leu947Phe) rs1060500198
NM_000090.3(COL3A1):c.2842G>A (p.Gly948Arg) rs587779447
NM_000090.3(COL3A1):c.2843G>A (p.Gly948Glu) rs878853651
NM_000090.3(COL3A1):c.2848G>A (p.Ala950Thr) rs1170896025
NM_000090.3(COL3A1):c.284C>T (p.Pro95Leu) rs780260944
NM_000090.3(COL3A1):c.2860G>A (p.Gly954Arg) rs587779674
NM_000090.3(COL3A1):c.2861G>A (p.Gly954Glu) rs587779434
NM_000090.3(COL3A1):c.2869G>T (p.Gly957Cys) rs121912913
NM_000090.3(COL3A1):c.2870G>A (p.Gly957Asp) rs587779654
NM_000090.3(COL3A1):c.2870G>T (p.Gly957Val) rs587779654
NM_000090.3(COL3A1):c.2879G>T (p.Gly960Val) rs121912922
NM_000090.3(COL3A1):c.2887G>C (p.Gly963Arg) rs587779640
NM_000090.3(COL3A1):c.2887G>T (p.Gly963Cys) rs587779640
NM_000090.3(COL3A1):c.2888G>A (p.Gly963Asp) rs587779511
NM_000090.3(COL3A1):c.2897G>T (p.Gly966Val) rs587779571
NM_000090.3(COL3A1):c.289C>G (p.Arg97Gly) rs768671254
NM_000090.3(COL3A1):c.2905G>A (p.Gly969Arg) rs587779580
NM_000090.3(COL3A1):c.290G>A (p.Arg97His) rs1197947308
NM_000090.3(COL3A1):c.2913T>G (p.Pro971=) rs367872728
NM_000090.3(COL3A1):c.2914G>A (p.Gly972Ser) rs587779723
NM_000090.3(COL3A1):c.2915G>A (p.Gly972Asp) rs587779559
NM_000090.3(COL3A1):c.2915G>C (p.Gly972Ala) rs587779559
NM_000090.3(COL3A1):c.2924G>T (p.Gly975Val) rs587779542
NM_000090.3(COL3A1):c.2927T>C (p.Val976Ala) rs886038939
NM_000090.3(COL3A1):c.2931+1G>A (p.Gly942_Lys977del) rs397509373
NM_000090.3(COL3A1):c.2931+8T>C rs949146538
NM_000090.3(COL3A1):c.2933G>A (p.Gly978Asp) rs587779595
NM_000090.3(COL3A1):c.2935G>T (p.Glu979Ter) rs587779488
NM_000090.3(COL3A1):c.2941G>A (p.Gly981Arg) rs587779449
NM_000090.3(COL3A1):c.2941G>C (p.Gly981Arg) rs587779449
NM_000090.3(COL3A1):c.2950_2951delGGinsAC (p.Gly984Thr)
NM_000090.3(COL3A1):c.2958C>T (p.Asn986=) rs41264441
NM_000090.3(COL3A1):c.2959G>A (p.Gly987Ser) rs587779583
NM_000090.3(COL3A1):c.2963T>A (p.Leu988His) rs770525372
NM_000090.3(COL3A1):c.2975G>A (p.Arg992His) rs374527092
NM_000090.3(COL3A1):c.2977G>T (p.Gly993Cys) rs587779416
NM_000090.3(COL3A1):c.2978G>A (p.Gly993Asp) rs587779456
NM_000090.3(COL3A1):c.2987G>A (p.Gly996Glu) rs587779576
NM_000090.3(COL3A1):c.2989C>T (p.Pro997Ser) rs1060500202
NM_000090.3(COL3A1):c.2995G>A (p.Gly999Ser) rs587779548
NM_000090.3(COL3A1):c.2995G>C (p.Gly999Arg) rs587779548
NM_000090.3(COL3A1):c.3019G>A (p.Ala1007Thr) rs201220788
NM_000090.3(COL3A1):c.3023G>A (p.Gly1008Asp) rs587779659
NM_000090.3(COL3A1):c.3032G>A (p.Gly1011Glu) rs587779552
NM_000090.3(COL3A1):c.3039+1G>A (p.Asp1013_Gly1014insMSSSFYSTSQ) rs587779506
NM_000090.3(COL3A1):c.3039+5G>A (p.Asp1013_Gly1014insVNSSFYSTSQ) rs587779568
NM_000090.3(COL3A1):c.3039+6T>C (p.Asp1013_Gly1014insVSSSFYSTSQ) rs587779532
NM_000090.3(COL3A1):c.3040G>A (p.Gly1014Arg) rs1553509391
NM_000090.3(COL3A1):c.3041G>A (p.Gly1014Glu) rs121912916
NM_000090.3(COL3A1):c.3061C>A (p.Leu1021Ile) rs139619440
NM_000090.3(COL3A1):c.3061_3063delCTT (p.Leu1021del) rs587779529
NM_000090.3(COL3A1):c.3066A>G (p.Pro1022=) rs756680770
NM_000090.3(COL3A1):c.3068G>A (p.Gly1023Asp) rs1553509401
NM_000090.3(COL3A1):c.3070C>T (p.Arg1024Ter) rs587779479
NM_000090.3(COL3A1):c.3093+1G>A rs869312034
NM_000090.3(COL3A1):c.3093+2T>C (p.Gly1014_Lys1031del) rs587779503
NM_000090.3(COL3A1):c.3093+2T>G (p.Gly1014_Lys1031del) rs587779503
NM_000090.3(COL3A1):c.3094-10_3094delinsGT
NM_000090.3(COL3A1):c.3095G>T (p.Gly1032Val) rs587779428
NM_000090.3(COL3A1):c.3098A>T (p.Asp1033Val) rs1060500206
NM_000090.3(COL3A1):c.30G>A (p.Trp10Ter) rs587779677
NM_000090.3(COL3A1):c.3100C>T (p.Arg1034Cys)
NM_000090.3(COL3A1):c.3103G>A (p.Gly1035Ser) rs587779704
NM_000090.3(COL3A1):c.3103G>T (p.Gly1035Cys) rs587779704
NM_000090.3(COL3A1):c.3104G>T (p.Gly1035Val) rs587779582
NM_000090.3(COL3A1):c.3112G>C (p.Gly1038Arg)
NM_000090.3(COL3A1):c.3122G>T (p.Gly1041Val) rs587779491
NM_000090.3(COL3A1):c.3132C>T (p.Gly1044=) rs369992399
NM_000090.3(COL3A1):c.3133G>A (p.Ala1045Thr) rs149722210
NM_000090.3(COL3A1):c.3140G>A (p.Gly1047Asp) rs587779545
NM_000090.3(COL3A1):c.3149G>A (p.Gly1050Asp) rs121912914
NM_000090.3(COL3A1):c.3149G>T (p.Gly1050Val) rs121912914
NM_000090.3(COL3A1):c.3157G>C (p.Gly1053Arg) rs587779651
NM_000090.3(COL3A1):c.3167G>A (p.Gly1056Asp) rs587779540
NM_000090.3(COL3A1):c.316G>A (p.Gly106Ser) rs180938313
NM_000090.3(COL3A1):c.3176G>T (p.Gly1059Val) rs587779619
NM_000090.3(COL3A1):c.3193G>A (p.Gly1065Arg) rs587779563
NM_000090.3(COL3A1):c.3194G>A (p.Gly1065Glu) rs1553509430
NM_000090.3(COL3A1):c.3201+10C>G rs372405344
NM_000090.3(COL3A1):c.3202-14delT rs767971610
NM_000090.3(COL3A1):c.3202-2A>G (p.Gly1068_Pro1085del) rs587779682
NM_000090.3(COL3A1):c.3202G>T (p.Gly1068Cys)
NM_000090.3(COL3A1):c.3203G>T (p.Gly1068Val) rs587779551
NM_000090.3(COL3A1):c.3208G>T (p.Ala1070Ser) rs376738516
NM_000090.3(COL3A1):c.3212G>T (p.Gly1071Val) rs587779709
NM_000090.3(COL3A1):c.3220G>A (p.Gly1074Ser) rs587779554
NM_000090.3(COL3A1):c.3222T>G (p.Gly1074=) rs1060503873
NM_000090.3(COL3A1):c.3223_3240del (p.Ala1075_Gly1080del) rs587779509
NM_000090.3(COL3A1):c.3230G>T (p.Gly1077Val) rs121912915
NM_000090.3(COL3A1):c.3239G>A (p.Gly1080Asp) rs587779469
NM_000090.3(COL3A1):c.3255+1G>A (p.Gly1068_Pro1085del) rs587779480
NM_000090.3(COL3A1):c.3255+5G>A (p.Gly1068_Pro1085del) rs587779501
NM_000090.3(COL3A1):c.3256-43T>G (p.Pro1085_Gly1086insVCVYMTSIQNMFLK) rs587779667
NM_000090.3(COL3A1):c.3257G>T (p.Gly1086Val) rs1060500203
NM_000090.3(COL3A1):c.3266G>A (p.Gly1089Asp) rs587779672
NM_000090.3(COL3A1):c.3275G>T (p.Gly1092Val) rs587779666
NM_000090.3(COL3A1):c.3284G>A (p.Gly1095Asp) rs587779610
NM_000090.3(COL3A1):c.3293G>T (p.Gly1098Val) rs587779614
NM_000090.3(COL3A1):c.3301G>A (p.Gly1101Arg) rs587779439
NM_000090.3(COL3A1):c.3302G>A (p.Gly1101Glu) rs121912924
NM_000090.3(COL3A1):c.3312C>T (p.Gly1104=)
NM_000090.3(COL3A1):c.3319G>A (p.Gly1107Arg) rs587779561
NM_000090.3(COL3A1):c.3325C>G (p.Arg1109Gly) rs112371422
NM_000090.3(COL3A1):c.3325C>T (p.Arg1109Ter) rs112371422
NM_000090.3(COL3A1):c.3326G>A (p.Arg1109Gln) rs730880062
NM_000090.3(COL3A1):c.333+15T>C rs764678861
NM_000090.3(COL3A1):c.3336T>C (p.Pro1112=) rs749357239
NM_000090.3(COL3A1):c.3345A>G (p.Pro1115=) rs1045040851
NM_000090.3(COL3A1):c.3347G>T (p.Gly1116Val) rs587779445
NM_000090.3(COL3A1):c.3356G>A (p.Gly1119Asp) rs587779639
NM_000090.3(COL3A1):c.3364-2A>C (p.Gly1122_Arg1139del) rs587779546
NM_000090.3(COL3A1):c.3364-8C>T rs779073034
NM_000090.3(COL3A1):c.3375T>C (p.Gly1125=) rs1355734194
NM_000090.3(COL3A1):c.3390C>T (p.Ile1130=) rs148918486
NM_000090.3(COL3A1):c.3391G>A (p.Gly1131Ser) rs587779536
NM_000090.3(COL3A1):c.3410G>A (p.Gly1137Asp) rs587779720
NM_000090.3(COL3A1):c.3413C>T (p.Pro1138Leu) rs201880122
NM_000090.3(COL3A1):c.3417+1G>A (p.Gly1122_Arg1139del+) rs587779444
NM_000090.3(COL3A1):c.3417+1G>C (p.Gly1122_Arg1139del+) rs587779444
NM_000090.3(COL3A1):c.3417+1G>T (p.Gly1122_Arg1139del+) rs587779444
NM_000090.3(COL3A1):c.3417+4_3417+5del (p.Gly1122_Arg1139del+) rs1553509630
NM_000090.3(COL3A1):c.3417+5G>A (p.Gly1122_Arg1139del+) rs587779448
NM_000090.3(COL3A1):c.3418-1G>T (p.Arg1139_Gly1140insVSSTERYYRSTCFRCLHFRKIFWHCDVMILSY) rs587779562
NM_000090.3(COL3A1):c.3418-2A>G (p.Arg1139_Gly1140insVSSTERYYRSTCFRCLHFRKIFWHCDVMILSW) rs587779502
NM_000090.3(COL3A1):c.3418-2A>T (p.Arg1139_Gly1140insVSSTERYYRSTCFRCLHFRKIFWHCDVMILSL) rs587779502
NM_000090.3(COL3A1):c.3419G>A (p.Gly1140Glu) rs587779648
NM_000090.3(COL3A1):c.3437G>A (p.Gly1146Glu) rs587779495
NM_000090.3(COL3A1):c.3472G>C (p.Gly1158Arg) rs587779715
NM_000090.3(COL3A1):c.3473G>A (p.Gly1158Asp) rs587779472
NM_000090.3(COL3A1):c.3482G>A (p.Gly1161Glu) rs587779473
NM_000090.3(COL3A1):c.3482G>T (p.Gly1161Val) rs587779473
NM_000090.3(COL3A1):c.3490G>A (p.Gly1164Arg) rs587779553
NM_000090.3(COL3A1):c.3490G>C (p.Gly1164Arg) rs587779553
NM_000090.3(COL3A1):c.3490G>T (p.Gly1164Trp) rs587779553
NM_000090.3(COL3A1):c.3491G>A (p.Gly1164Glu) rs587779431
NM_000090.3(COL3A1):c.3491G>T (p.Gly1164Val) rs587779431
NM_000090.3(COL3A1):c.3496C>T (p.Arg1166Ter) rs587779646
NM_000090.3(COL3A1):c.3499G>C (p.Gly1167Arg) rs587779609
NM_000090.3(COL3A1):c.3499G>T (p.Gly1167Cys) rs587779609
NM_000090.3(COL3A1):c.3500G>A (p.Gly1167Asp) rs587779578
NM_000090.3(COL3A1):c.3500G>T (p.Gly1167Val) rs587779578
NM_000090.3(COL3A1):c.3508G>A (p.Gly1170Ser) rs587779482
NM_000090.3(COL3A1):c.3509G>A (p.Gly1170Asp) rs587779465
NM_000090.3(COL3A1):c.3509G>T (p.Gly1170Val) rs587779465
NM_000090.3(COL3A1):c.3515G>C (p.Arg1172Thr) rs1553509668
NM_000090.3(COL3A1):c.3517G>A (p.Gly1173Arg) rs587779521
NM_000090.3(COL3A1):c.3518G>A (p.Gly1173Glu) rs121912918
NM_000090.3(COL3A1):c.3518G>T (p.Gly1173Val) rs121912918
NM_000090.3(COL3A1):c.3527G>A (p.Gly1176Asp) rs1553509726
NM_000090.3(COL3A1):c.3527_3528delGCinsAA (p.Gly1176Glu) rs587779669
NM_000090.3(COL3A1):c.3535G>C (p.Gly1179Arg) rs587779574
NM_000090.3(COL3A1):c.3536G>T (p.Gly1179Val) rs587779627
NM_000090.3(COL3A1):c.3544G>A (p.Gly1182Arg) rs587779683
NM_000090.3(COL3A1):c.3545G>A (p.Gly1182Glu) rs111505097
NM_000090.3(COL3A1):c.3545G>T (p.Gly1182Val) rs111505097
NM_000090.3(COL3A1):c.3554G>A (p.Gly1185Asp) rs121912917
NM_000090.3(COL3A1):c.3554G>T (p.Gly1185Val) rs121912917
NM_000090.3(COL3A1):c.3562G>A (p.Gly1188Arg) rs587779504
NM_000090.3(COL3A1):c.3563G>A (p.Gly1188Glu) rs112456072
NM_000090.3(COL3A1):c.3566C>T (p.Pro1189Leu) rs752598062
NM_000090.3(COL3A1):c.3572G>A (p.Gly1191Asp) rs587779703
NM_000090.3(COL3A1):c.3575_3576insAGGG (p.Pro1193Glyfs) rs587779712
NM_000090.3(COL3A1):c.3576C>T (p.Ala1192=) rs574331101
NM_000090.3(COL3A1):c.3581G>A (p.Gly1194Asp) rs1553509744
NM_000090.3(COL3A1):c.3604G>T (p.Ala1202Ser)
NM_000090.3(COL3A1):c.3607G>A (p.Ala1203Thr) rs550665335
NM_000090.3(COL3A1):c.3613A>G (p.Ile1205Val) rs2271683
NM_000090.3(COL3A1):c.3626G>C (p.Gly1209Ala) rs374452484
NM_000090.3(COL3A1):c.3629G>A (p.Gly1210Asp) rs749543804
NM_000090.3(COL3A1):c.3642C>A (p.Gly1214=) rs184402915
NM_000090.3(COL3A1):c.3653C>T (p.Pro1218Leu) rs763901831
NM_000090.3(COL3A1):c.3654G>T (p.Pro1218=) rs35759441
NM_000090.3(COL3A1):c.3694G>A (p.Asp1232Asn) rs147663769
NM_000090.3(COL3A1):c.3774C>T (p.Pro1258=) rs149790711
NM_000090.3(COL3A1):c.3775G>A (p.Ala1259Thr) rs776478974
NM_000090.3(COL3A1):c.3777T>C (p.Ala1259=) rs34781844
NM_000090.3(COL3A1):c.3796A>C (p.Lys1266Gln)
NM_000090.3(COL3A1):c.3808C>A (p.Pro1270Thr)
NM_000090.3(COL3A1):c.3818A>G (p.Lys1273Arg) rs144614075
NM_000090.3(COL3A1):c.3833G>A (p.Trp1278Ter) rs1060500187
NM_000090.3(COL3A1):c.3847C>T (p.Gln1283Ter) rs587779467
NM_000090.3(COL3A1):c.3863A>T (p.Asp1288Val) rs587779658
NM_000090.3(COL3A1):c.3914C>G (p.Ala1305Gly) rs1060500197
NM_000090.3(COL3A1):c.3926A>G (p.Asn1309Ser) rs1060500201
NM_000090.3(COL3A1):c.3937A>C (p.Lys1313Gln) rs886038983
NM_000090.3(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783
NM_000090.3(COL3A1):c.3966G>A (p.Glu1322=) rs560861999
NM_000090.3(COL3A1):c.3966delG (p.Lys1323Argfs) rs587779490
NM_000090.3(COL3A1):c.3989delA (p.Glu1330Glyfs) rs587779647
NM_000090.3(COL3A1):c.3998A>G (p.Asp1333Gly) rs376651720
NM_000090.3(COL3A1):c.4011+1G>T
NM_000090.3(COL3A1):c.4012-2A>G
NM_000090.3(COL3A1):c.4020C>T (p.Tyr1340=) rs766750333
NM_000090.3(COL3A1):c.4021G>A (p.Gly1341Ser) rs140646380
NM_000090.3(COL3A1):c.4038T>C (p.Pro1346=) rs113753099
NM_000090.3(COL3A1):c.4059G>T (p.Gln1353His) rs1516446
NM_000090.3(COL3A1):c.406G>C (p.Gly136Arg) rs387906557
NM_000090.3(COL3A1):c.4075C>A (p.Leu1359Ile) rs1400489265
NM_000090.3(COL3A1):c.4086C>T (p.Ser1362=) rs779774302
NM_000090.3(COL3A1):c.4087C>T (p.Arg1363Ter) rs794728060
NM_000090.3(COL3A1):c.4096C>T (p.Gln1366Ter) rs863224860
NM_000090.3(COL3A1):c.409C>A (p.Pro137Thr) rs1553506950
NM_000090.3(COL3A1):c.4135A>G (p.Met1379Val) rs1060500196
NM_000090.3(COL3A1):c.413delC (p.Pro138Leufs) rs587779707
NM_000090.3(COL3A1):c.4142A>G (p.Gln1381Arg) rs886055334
NM_000090.3(COL3A1):c.4254G>A (p.Thr1418=) rs587779565
NM_000090.3(COL3A1):c.4267G>T (p.Glu1423Ter) rs1553510000
NM_000090.3(COL3A1):c.4286_4287delTT (p.Phe1429Terfs) rs587779719
NM_000090.3(COL3A1):c.4294C>T (p.Arg1432Ter) rs587779585
NM_000090.3(COL3A1):c.4295G>T (p.Arg1432Leu) rs772428340
NM_000090.3(COL3A1):c.4301G>A (p.Arg1434His)
NM_000090.3(COL3A1):c.4319C>T (p.Pro1440Leu) rs1553510005
NM_000090.3(COL3A1):c.4327G>A (p.Asp1443Asn) rs1553510008
NM_000090.3(COL3A1):c.432C>T (p.Cys144=) rs539430522
NM_000090.3(COL3A1):c.4332T>C (p.Ile1444=) rs1285255181
NM_000090.3(COL3A1):c.4338C>T (p.Pro1446=) rs376207711
NM_000090.3(COL3A1):c.4346T>C (p.Ile1449Thr) rs932369090
NM_000090.3(COL3A1):c.4357G>A (p.Asp1453Asn) rs1131691353
NM_000090.3(COL3A1):c.435T>A (p.Pro145=) rs1060503875
NM_000090.3(COL3A1):c.4399T>C (p.Ter1467Gln) rs587779618
NM_000090.3(COL3A1):c.464A>G (p.Tyr155Cys)
NM_000090.3(COL3A1):c.472T>A (p.Tyr158Asn) rs756125442
NM_000090.3(COL3A1):c.505C>T (p.Leu169Phe) rs111391222
NM_000090.3(COL3A1):c.515A>C (p.Tyr172Ser) rs771654029
NM_000090.3(COL3A1):c.528+5G>A rs794728038
NM_000090.3(COL3A1):c.529-5T>G rs886055329
NM_000090.3(COL3A1):c.539G>A (p.Gly180Asp) rs587779714
NM_000090.3(COL3A1):c.546C>A (p.Pro182=)
NM_000090.3(COL3A1):c.547G>A (p.Gly183Ser) rs121912926
NM_000090.3(COL3A1):c.547G>C (p.Gly183Arg) rs121912926
NM_000090.3(COL3A1):c.547G>T (p.Gly183Cys) rs121912926
NM_000090.3(COL3A1):c.548G>A (p.Gly183Asp) rs587779420
NM_000090.3(COL3A1):c.548G>C (p.Gly183Ala) rs587779420
NM_000090.3(COL3A1):c.555delT (p.Gly186Valfs) rs587779451
NM_000090.3(COL3A1):c.556G>A (p.Gly186Ser) rs587779446
NM_000090.3(COL3A1):c.560C>T (p.Thr187Ile) rs371583734
NM_000090.3(COL3A1):c.565G>C (p.Gly189Arg) rs587779507
NM_000090.3(COL3A1):c.575G>T (p.Gly192Val) rs587779710
NM_000090.3(COL3A1):c.582+10G>A rs1553507200
NM_000090.3(COL3A1):c.582+1G>C (p.Gly177_Pro194del) rs587779508
NM_000090.3(COL3A1):c.582+2dupT (p.Gly177_Pro194del) rs587779524
NM_000090.3(COL3A1):c.582+5G>A (p.Gly177_Pro194del) rs587779671
NM_000090.3(COL3A1):c.582+5G>T (p.Gly177_Pro194del) rs587779671
NM_000090.3(COL3A1):c.582+5_582+11delinsACA (p.Gly177_Pro194del)
NM_000090.3(COL3A1):c.582+6T>A (p.Gly177_Pro194del) rs397509375
NM_000090.3(COL3A1):c.582+6T>C rs397509375
NM_000090.3(COL3A1):c.583-7T>C rs886055330
NM_000090.3(COL3A1):c.583-8C>T rs10166835
NM_000090.3(COL3A1):c.583G>C (p.Gly195Arg) rs267599120
NM_000090.3(COL3A1):c.592G>A (p.Gly198Arg) rs587779601
NM_000090.3(COL3A1):c.593G>A (p.Gly198Glu) rs587779641
NM_000090.3(COL3A1):c.601G>C (p.Gly201Arg) rs587779436
NM_000090.3(COL3A1):c.608delC (p.Pro203Leufs) rs1553507265
NM_000090.3(COL3A1):c.610G>A (p.Gly204Ser) rs587779711
NM_000090.3(COL3A1):c.611G>A (p.Gly204Asp) rs587779626
NM_000090.3(COL3A1):c.615_629dup (p.Pro211_Ser212insGlyGlnAlaGlyPro) rs587779628
NM_000090.3(COL3A1):c.619G>T (p.Gly207Trp) rs1553507274
NM_000090.3(COL3A1):c.620G>T (p.Gly207Val) rs587779592
NM_000090.3(COL3A1):c.621G>A (p.Gly207=) rs779352711
NM_000090.3(COL3A1):c.629G>T (p.Gly210Val) rs587779515
NM_000090.3(COL3A1):c.631_636+6delinsTACTAAATATA (p.Gly195_Ser212del) rs587779681
NM_000090.3(COL3A1):c.636+1G>A (p.Gly195_Ser212del) rs587779676
NM_000090.3(COL3A1):c.636+5G>A (p.Gly195_Ser212del) rs587779688
NM_000090.3(COL3A1):c.637G>A (p.Gly213Ser) rs587779557
NM_000090.3(COL3A1):c.647G>A (p.Gly216Glu) rs587779596
NM_000090.3(COL3A1):c.655G>T (p.Gly219Cys) rs587779624
NM_000090.3(COL3A1):c.656G>A (p.Gly219Asp) rs587779441
NM_000090.3(COL3A1):c.656G>C (p.Gly219Ala) rs587779441
NM_000090.3(COL3A1):c.665G>A (p.Gly222Asp) rs587779518
NM_000090.3(COL3A1):c.665G>T (p.Gly222Val) rs587779518
NM_000090.3(COL3A1):c.674G>C (p.Gly225Ala) rs587779533
NM_000090.3(COL3A1):c.674G>T (p.Gly225Val) rs587779533
NM_000090.3(COL3A1):c.682G>C (p.Gly228Arg) rs587779470
NM_000090.3(COL3A1):c.683G>A (p.Gly228Glu) rs587779555
NM_000090.3(COL3A1):c.690+1G>A (p.Gly213_Asp230del) rs587779660
NM_000090.3(COL3A1):c.690+2T>A (p.Gly213_Asp230del) rs587779497
NM_000090.3(COL3A1):c.690+2T>G (p.Gly213_Asp230del) rs587779497
NM_000090.3(COL3A1):c.701G>A (p.Gly234Asp) rs587779656
NM_000090.3(COL3A1):c.709G>A (p.Gly237Arg) rs587779625
NM_000090.3(COL3A1):c.718G>C (p.Gly240Arg) rs587779468
NM_000090.3(COL3A1):c.721G>A (p.Glu241Lys) rs1553507432
NM_000090.3(COL3A1):c.728G>A (p.Gly243Glu) rs587779629
NM_000090.3(COL3A1):c.728G>T (p.Gly243Val) rs587779629
NM_000090.3(COL3A1):c.737G>A (p.Gly246Glu) rs587779570
NM_000090.3(COL3A1):c.746G>A (p.Gly249Asp) rs121912927
NM_000090.3(COL3A1):c.746G>T (p.Gly249Val) rs121912927
NM_000090.3(COL3A1):c.752A>G (p.Lys251Arg) rs151148197
NM_000090.3(COL3A1):c.754G>C (p.Gly252Arg) rs587779705
NM_000090.3(COL3A1):c.754G>T (p.Gly252Cys) rs587779705
NM_000090.3(COL3A1):c.755G>A (p.Gly252Asp) rs587779464
NM_000090.3(COL3A1):c.755G>T (p.Gly252Val) rs587779464
NM_000090.3(COL3A1):c.764G>A (p.Gly255Glu) rs587779605
NM_000090.3(COL3A1):c.764G>T (p.Gly255Val) rs587779605
NM_000090.3(COL3A1):c.766delA (p.Ile256Tyrfs) rs587779455
NM_000090.3(COL3A1):c.773G>C (p.Gly258Ala)
NM_000090.3(COL3A1):c.782G>A (p.Gly261Asp) rs587779635
NM_000090.3(COL3A1):c.791G>A (p.Gly264Glu) rs587779604
NM_000090.3(COL3A1):c.798+1G>A (p.Phe268Leufs*10) rs587779463
NM_000090.3(COL3A1):c.799-6delT rs767927599
NM_000090.3(COL3A1):c.799G>A (p.Gly267Ser) rs587779718
NM_000090.3(COL3A1):c.80-13A>C rs566189676
NM_000090.3(COL3A1):c.80-1G>C
NM_000090.3(COL3A1):c.800G>T (p.Gly267Val) rs587779427
NM_000090.3(COL3A1):c.809G>A (p.Gly270Glu) rs587779478
NM_000090.3(COL3A1):c.812G>A (p.Arg271Gln) rs112185887
NM_000090.3(COL3A1):c.81delT (p.Val28Leufs) rs1060500200
NM_000090.3(COL3A1):c.827G>A (p.Gly276Asp) rs587779644
NM_000090.3(COL3A1):c.836G>A (p.Gly279Asp) rs587779593
NM_000090.3(COL3A1):c.844G>A (p.Gly282Arg) rs587779531
NM_000090.3(COL3A1):c.873C>A (p.Gly291=) rs138569287
NM_000090.3(COL3A1):c.877A>G (p.Asn293Asp) rs1131691328
NM_000090.3(COL3A1):c.889G>A (p.Gly297Arg) rs1553507557
NM_000090.3(COL3A1):c.898-14A>G rs763316592
NM_000090.3(COL3A1):c.898-1G>C (p.Gly300_Ala317del) rs587779556
NM_000090.3(COL3A1):c.898-5T>C rs535434618
NM_000090.3(COL3A1):c.898G>C (p.Gly300Arg) rs587779481
NM_000090.3(COL3A1):c.899G>A (p.Gly300Asp) rs587779440
NM_000090.3(COL3A1):c.899G>T (p.Gly300Val) rs587779440
NM_000090.3(COL3A1):c.907G>A (p.Gly303Arg) rs121912919
NM_000090.3(COL3A1):c.91G>C (p.Gly31Arg) rs374537884
NM_000090.3(COL3A1):c.926G>A (p.Gly309Glu) rs113871730
NM_000090.3(COL3A1):c.944G>C (p.Gly315Ala) rs587779487
NM_000090.3(COL3A1):c.944G>T (p.Gly315Val) rs587779487
NM_000090.3(COL3A1):c.951+1G>A (p.Gly300_Ala317del) rs587779652
NM_000090.3(COL3A1):c.951+2T>A (p.Gly300_Ala317del) rs587779426
NM_000090.3(COL3A1):c.951+2T>C (p.Gly300_Ala317del) rs587779426
NM_000090.3(COL3A1):c.951+3G>T (p.Gly300_Ala317del) rs587779452
NM_000090.3(COL3A1):c.951+4A>T (p.Gly300_Ala317del) rs587779598
NM_000090.3(COL3A1):c.951+4_951+5del (p.Gly300_Ala317del)
NM_000090.3(COL3A1):c.951+5G>A (p.Gly300_Ala317del) rs587779422
NM_000090.3(COL3A1):c.951+6T>A (p.Gly300_Ala317del) rs587779423
NM_000090.3(COL3A1):c.951+6T>C (p.Gly300_Ala317del) rs587779423
NM_000090.3(COL3A1):c.951_951+14del (p.Gly300_Ala317del) rs587779425
NM_000090.3(COL3A1):c.953G>A (p.Gly318Asp) rs1553507614
NM_000090.3(COL3A1):c.955_974del20insTTTACATCGAGGGTTTTAAAGTTTACA (p.Ala319Phefs) rs587779655
NM_000090.3(COL3A1):c.962G>A (p.Gly321Asp) rs587779588
NM_000090.3(COL3A1):c.962G>T (p.Gly321Val) rs587779588
NM_000090.3(COL3A1):c.970G>A (p.Gly324Ser) rs587779650
NM_000090.3(COL3A1):c.976C>T (p.Arg326Ter) rs587779607
NM_000090.3(COL3A1):c.996+10T>A rs369957068
NM_000090.3(COL3A1):c.996+1G>A (p.Gly318_Pro332del) rs587779516
NM_000090.3(COL3A1):c.996+2T>A (p.Gly318_Pro332del) rs587779649
NM_000090.3(COL3A1):c.997-10A>G (p.Pro332_Gly333insFFQ) rs587779670
NM_000090.3(COL3A1):c.997-1G>C (p.Gly333_Lys350del+) rs587779687
NM_000090.3(COL3A1):c.997-2A>G (p.Gly333_Lys350del+) rs587779602
NM_000090.3(COL3A1):c.998G>A (p.Gly333Asp) rs587779673
NM_000090.3(COL3A1):c.[1786C>T;3851G>A]
NM_000090.3(COL3A1):c.[=/3426_3452del27];[=/3440_3466del27]
NM_000093.4(COL5A1):c.1044G>T (p.Thr348=) rs1246095864
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.1140C>T (p.Thr380=) rs749315207
NM_000093.4(COL5A1):c.1143C>T (p.Ala381=) rs200245996
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.1239C>G (p.Asp413Glu)
NM_000093.4(COL5A1):c.1258_1269delTACTACGACCCC (p.Tyr420_Pro423del) rs745934765
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_128delCCT (p.Leu43del)
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.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.1333-8A>G rs145620416
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.1364delA (p.Lys455Argfs)
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.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.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.1588G>A (p.Gly530Ser) rs61735045
NM_000093.4(COL5A1):c.1590C>T (p.Gly530=) rs769010469
NM_000093.4(COL5A1):c.1595C>T (p.Ala532Val) rs369000939
NM_000093.4(COL5A1):c.1637C>T (p.Ala546Val) rs557361751
NM_000093.4(COL5A1):c.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.1831C>T (p.Arg611Trp) rs147329970
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.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.1998C>T (p.Asp666=) rs143858735
NM_000093.4(COL5A1):c.2030A>T (p.Glu677Val)
NM_000093.4(COL5A1):c.2031G>A (p.Glu677=) rs61737719
NM_000093.4(COL5A1):c.2034+1G>A rs886042173
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.2096C>T (p.Thr699Met) rs142313124
NM_000093.4(COL5A1):c.2114C>T (p.Pro705Leu) rs375456811
NM_000093.4(COL5A1):c.2143G>T (p.Gly715Ter) rs1060502258
NM_000093.4(COL5A1):c.2155C>T (p.Pro719Ser)
NM_000093.4(COL5A1):c.2164C>T (p.Gln722Ter)
NM_000093.4(COL5A1):c.2174A>G (p.Asn725Ser) rs142612655
NM_000093.4(COL5A1):c.2184C>A (p.Ala728=) rs150993138
NM_000093.4(COL5A1):c.2203dupC (p.Gln735Profs) rs1057519596
NM_000093.4(COL5A1):c.2222C>T (p.Pro741Leu)
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.2285C>T (p.Pro762Leu) rs138259992
NM_000093.4(COL5A1):c.228_229delAG (p.Arg76Serfs) rs1060502242
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.2321A>C (p.Lys774Thr)
NM_000093.4(COL5A1):c.2331+16G>A rs199654385
NM_000093.4(COL5A1):c.2354C>T (p.Pro785Leu) rs760539229
NM_000093.4(COL5A1):c.2374C>T (p.Arg792Ter) rs121912933
NM_000093.4(COL5A1):c.2386-3C>G
NM_000093.4(COL5A1):c.2386-6G>A rs373383768
NM_000093.4(COL5A1):c.2386-7C>T rs746845504
NM_000093.4(COL5A1):c.2389delG (p.Ala797Profs)
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.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
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)
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.2565delC (p.Gly856Valfs)
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.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.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.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>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.2812G>C (p.Gly938Arg) rs751950836
NM_000093.4(COL5A1):c.2818G>A (p.Gly940Ser) rs1131691874
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.2897delC (p.Pro966Leufs) rs1179967153
NM_000093.4(COL5A1):c.28C>T (p.Arg10Cys) rs1457110544
NM_000093.4(COL5A1):c.2902C>G (p.Pro968Ala)
NM_000093.4(COL5A1):c.292G>A (p.Glu98Lys) rs369126350
NM_000093.4(COL5A1):c.2931C>A (p.His977Gln)
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.295G>T (p.Asp99Tyr) rs774095835
NM_000093.4(COL5A1):c.2971G>A (p.Gly991Ser) rs777368013
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.2988delC (p.Gly997Alafs) 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.3184C>T (p.Arg1062Ter) rs387906606
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.3204+3G>A rs202054108
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.3259_3366del (p.Ser1088_Gly1123del)
NM_000093.4(COL5A1):c.3260G>C (p.Gly1087Ala) rs559882772
NM_000093.4(COL5A1):c.3263C>G (p.Ser1088Cys) rs1383949759
NM_000093.4(COL5A1):c.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.Pro1109Leufs)
NM_000093.4(COL5A1):c.3312A>G (p.Pro1104=) rs1554803839
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)
NM_000093.4(COL5A1):c.3428C>T (p.Pro1143Leu) rs540131206
NM_000093.4(COL5A1):c.343T>A (p.Phe115Ile)
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.3551C>T (p.Pro1184Leu) rs749093832
NM_000093.4(COL5A1):c.3564C>A (p.Ile1188=) rs766961124
NM_000093.4(COL5A1):c.3584_3585delGAinsAT (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)
NM_000093.4(COL5A1):c.367C>G (p.Gln123Glu) rs142114921
NM_000093.4(COL5A1):c.3684delG (p.Leu1229Cysfs)
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 (p.Gly1249Alafs)
NM_000093.4(COL5A1):c.3752del (p.Pro1251Argfs) rs786205100
NM_000093.4(COL5A1):c.3752dup (p.Pro1253Serfs) rs786205100
NM_000093.4(COL5A1):c.3762del (p.Gly1255Alafs) rs1057518653
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.3888G>A (p.Pro1296=) rs375631252
NM_000093.4(COL5A1):c.3906+10C>T rs183881247
NM_000093.4(COL5A1):c.3906+3G>T rs786200922
NM_000093.4(COL5A1):c.3906+7G>A rs200333878
NM_000093.4(COL5A1):c.3911C>T (p.Pro1304Leu) rs1554805618
NM_000093.4(COL5A1):c.3921A>G (p.Glu1307=) rs1322220087
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.4068+7G>A rs587780905
NM_000093.4(COL5A1):c.4069-1G>T
NM_000093.4(COL5A1):c.406C>T (p.Pro136Ser) rs777625241
NM_000093.4(COL5A1):c.4121C>T (p.Thr1374Met) rs151115748
NM_000093.4(COL5A1):c.4126dup (p.Ser1376Phefs) 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.4192G>T (p.Ala1398Ser) rs759464073
NM_000093.4(COL5A1):c.4200C>T (p.Pro1400=) rs752468183
NM_000093.4(COL5A1):c.4203delA (p.Gly1402Alafs) 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 (p.Gly1411Glufs) rs1060502259
NM_000093.4(COL5A1):c.4238C>A (p.Ala1413Asp)
NM_000093.4(COL5A1):c.4240G>A (p.Gly1414Ser) rs776709663
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.4338+1G>A
NM_000093.4(COL5A1):c.4339-1delG rs786205102
NM_000093.4(COL5A1):c.4339-3C>G
NM_000093.4(COL5A1):c.4351C>A (p.Leu1451Ile) rs369740453
NM_000093.4(COL5A1):c.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.4466G>A (p.Gly1489Glu) rs121912932
NM_000093.4(COL5A1):c.4467G>T (p.Gly1489=) rs878853653
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.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.4554+1G>C
NM_000093.4(COL5A1):c.4560C>T (p.Ile1520=) rs2228559
NM_000093.4(COL5A1):c.4573G>A (p.Gly1525Ser)
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_4660delCCCGA (p.Pro1553Glyfs) rs1554807812
NM_000093.4(COL5A1):c.4658C>T (p.Pro1553Leu) rs530570306
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.4699-6C>T rs113090154
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.4753C>T (p.Arg1585Trp) rs546865410
NM_000093.4(COL5A1):c.4754G>A (p.Arg1585Gln) rs531431738
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.Tyr1604_Ala1605insValAspTyr) 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)
NM_000093.4(COL5A1):c.4892C>T (p.Thr1631Met) rs764446683
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.4909delC (p.Arg1637Alafs)
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.4916G>C (p.Cys1639Ser) rs80338764
NM_000093.4(COL5A1):c.492-3C>T rs1027866868
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.4954+4A>G
NM_000093.4(COL5A1):c.4954+6G>C rs1031138847
NM_000093.4(COL5A1):c.4968C>T (p.Val1656=) rs201871481
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.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.5136+73G>A rs560195385
NM_000093.4(COL5A1):c.5137-11T>A rs183495554
NM_000093.4(COL5A1):c.5137-11T>C rs183495554
NM_000093.4(COL5A1):c.5141_5143delCCT (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.5159G>T (p.Gly1720Val)
NM_000093.4(COL5A1):c.515T>A (p.Val172Asp) rs1554781678
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.5223C>T (p.Asn1741=) rs144081161
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.5299delC (p.Leu1767Trpfs) rs1554726279
NM_000093.4(COL5A1):c.52C>T (p.Pro18Ser) rs1060502260
NM_000093.4(COL5A1):c.5317delG (p.Glu1773Argfs) rs1554726283
NM_000093.4(COL5A1):c.5321T>C (p.Met1774Thr) rs1554726285
NM_000093.4(COL5A1):c.5335A>G (p.Asn1779Asp) rs780400029
NM_000093.4(COL5A1):c.5338C>T (p.Pro1780Ser) rs781230603
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.5370+3_5370+6delGAGT rs786200923
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.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.Ala1834Glyfs)
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.655-2A>G rs786205101
NM_000093.4(COL5A1):c.668A>G (p.Gln223Arg) rs1554787531
NM_000093.4(COL5A1):c.684G>A (p.Ser228=) rs139705205
NM_000093.4(COL5A1):c.692G>A (p.Arg231Gln)
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.787-15G>A rs150200872
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.82_84delCTG (p.Leu28del)
NM_000093.4(COL5A1):c.82_84dupCTG (p.Leu28_Trp29insLeu) rs773994971
NM_000093.4(COL5A1):c.850G>A (p.Glu284Lys) rs75648697
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.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_000302.3(PLOD1):c.*117A>G rs886045210
NM_000302.3(PLOD1):c.*148C>G rs886045211
NM_000302.3(PLOD1):c.*276T>C rs886045212
NM_000302.3(PLOD1):c.*308C>G rs886045213
NM_000302.3(PLOD1):c.*419C>T rs886045214
NM_000302.3(PLOD1):c.*440G>C rs11553681
NM_000302.3(PLOD1):c.*528G>A rs886045215
NM_000302.3(PLOD1):c.*61T>C rs886045209
NM_000302.3(PLOD1):c.*71C>G rs2230899
NM_000302.3(PLOD1):c.*721T>G rs142707437
NM_000302.3(PLOD1):c.-39G>T rs769995450
NM_000302.3(PLOD1):c.-58G>A rs552712043
NM_000302.3(PLOD1):c.-61C>T rs566803699
NM_000302.3(PLOD1):c.-64C>G rs886045195
NM_000302.3(PLOD1):c.-77G>A rs144465849
NM_000302.3(PLOD1):c.1023C>T (p.Gly341=) rs755056846
NM_000302.3(PLOD1):c.1026C>T (p.Ser342=) rs140159343
NM_000302.3(PLOD1):c.1063C>T (p.Arg355Trp) rs775007891
NM_000302.3(PLOD1):c.1083C>T (p.Ala361=) rs1159010003
NM_000302.3(PLOD1):c.1095C>T (p.Gly365=)
NM_000302.3(PLOD1):c.1097C>T (p.Ala366Val) rs377080927
NM_000302.3(PLOD1):c.109G>A (p.Glu37Lys) rs369263247
NM_000302.3(PLOD1):c.1108C>T (p.Arg370Trp)
NM_000302.3(PLOD1):c.1117C>T (p.Arg373Cys)
NM_000302.3(PLOD1):c.1140C>T (p.Ser380=) rs200131516
NM_000302.3(PLOD1):c.1141G>A (p.Val381Met) rs2230896
NM_000302.3(PLOD1):c.1145A>C (p.Asp382Ala) rs998178222
NM_000302.3(PLOD1):c.114C>T (p.Thr38=) rs11553679
NM_000302.3(PLOD1):c.1164C>T (p.Thr388=) rs74949176
NM_000302.3(PLOD1):c.1172A>G (p.Asn391Ser) rs763409574
NM_000302.3(PLOD1):c.1182G>C (p.Arg394=) rs144439284
NM_000302.3(PLOD1):c.1202+3G>A rs370358836
NM_000302.3(PLOD1):c.1203-3C>T rs376288573
NM_000302.3(PLOD1):c.1206C>T (p.Asn402=) rs1130529
NM_000302.3(PLOD1):c.1216C>T (p.Pro406Ser)
NM_000302.3(PLOD1):c.124C>T (p.Arg42Cys) rs202003686
NM_000302.3(PLOD1):c.1321C>T (p.Arg441Trp) rs11553676
NM_000302.3(PLOD1):c.1325G>A (p.Arg442His) rs199567720
NM_000302.3(PLOD1):c.135G>A (p.Lys45=) rs765354146
NM_000302.3(PLOD1):c.137G>A (p.Arg46His) rs142710681
NM_000302.3(PLOD1):c.1387C>T (p.Arg463Trp) rs745946511
NM_000302.3(PLOD1):c.1388G>A (p.Arg463Gln) rs750100311
NM_000302.3(PLOD1):c.1427A>G (p.Lys476Arg) rs576907642
NM_000302.3(PLOD1):c.1428G>A (p.Lys476=) rs139869965
NM_000302.3(PLOD1):c.1470+5G>A rs1553136223
NM_000302.3(PLOD1):c.1471-9_1471-8delCCinsGT rs1553136318
NM_000302.3(PLOD1):c.1473T>C (p.Asp491=) rs139165192
NM_000302.3(PLOD1):c.1495C>T (p.Arg499Trp) rs149124387
NM_000302.3(PLOD1):c.1511A>G (p.His504Arg) rs555034048
NM_000302.3(PLOD1):c.1530C>T (p.Ser510=) rs1025133534
NM_000302.3(PLOD1):c.1533C>G (p.Tyr511Ter) rs121913552
NM_000302.3(PLOD1):c.1534C>T (p.Arg512Cys) rs138490756
NM_000302.3(PLOD1):c.1543C>T (p.His515Tyr) rs746905101
NM_000302.3(PLOD1):c.1581C>T (p.Pro527=) rs142934642
NM_000302.3(PLOD1):c.1582G>A (p.Glu528Lys) rs112250644
NM_000302.3(PLOD1):c.1594_1596del (p.Glu532del) rs797044446
NM_000302.3(PLOD1):c.1608C>T (p.His536=) rs138289419
NM_000302.3(PLOD1):c.1632A>C (p.Ala544=) rs2230898
NM_000302.3(PLOD1):c.1633G>A (p.Gly545Arg) rs886045204
NM_000302.3(PLOD1):c.1650G>A (p.Thr550=) rs201999965
NM_000302.3(PLOD1):c.1651-10C>T rs755961387
NM_000302.3(PLOD1):c.1651-2A>C rs565513365
NM_000302.3(PLOD1):c.1651-2delA rs797044447
NM_000302.3(PLOD1):c.1658C>T (p.Pro553Leu) rs754569828
NM_000302.3(PLOD1):c.1667A>G (p.Tyr556Cys) rs146360295
NM_000302.3(PLOD1):c.1686G>A (p.Thr562=) rs565216977
NM_000302.3(PLOD1):c.1689G>A (p.Glu563=) rs139230801
NM_000302.3(PLOD1):c.169-11T>C rs760584840
NM_000302.3(PLOD1):c.1706T>A (p.Leu569Gln) rs773547480
NM_000302.3(PLOD1):c.1707G>A (p.Leu569=) rs139468110
NM_000302.3(PLOD1):c.1756_1902del
NM_000302.3(PLOD1):c.1763G>T (p.Arg588Leu) rs755346019
NM_000302.3(PLOD1):c.177C>T (p.Gly59=) rs34032489
NM_000302.3(PLOD1):c.1785C>A (p.Asn595Lys)
NM_000302.3(PLOD1):c.1788G>T (p.Val596=) rs35460537
NM_000302.3(PLOD1):c.1789C>T (p.Pro597Ser) rs141692280
NM_000302.3(PLOD1):c.1790C>T (p.Pro597Leu) rs775321665
NM_000302.3(PLOD1):c.1795delA (p.Ile599Leufs)
NM_000302.3(PLOD1):c.1818C>A (p.Ile606=) rs372579008
NM_000302.3(PLOD1):c.1818C>T (p.Ile606=) rs372579008
NM_000302.3(PLOD1):c.1836G>C (p.Trp612Cys) rs121913553
NM_000302.3(PLOD1):c.184G>A (p.Glu62Lys) rs146092290
NM_000302.3(PLOD1):c.1864C>T (p.Pro622Ser)
NM_000302.3(PLOD1):c.1871C>T (p.Thr624Met)
NM_000302.3(PLOD1):c.1892A>G (p.Tyr631Cys)
NM_000302.3(PLOD1):c.1902+9G>T rs200395169
NM_000302.3(PLOD1):c.1927G>A (p.Val643Ile) rs149425237
NM_000302.3(PLOD1):c.1930C>T (p.Arg644Cys) rs576416937
NM_000302.3(PLOD1):c.1937A>G (p.Lys646Arg) rs1221992885
NM_000302.3(PLOD1):c.1960A>T (p.Met654Leu) rs1085307517
NM_000302.3(PLOD1):c.2008C>T (p.Arg670Ter) rs121913554
NM_000302.3(PLOD1):c.2032G>A (p.Gly678Arg) rs121913551
NM_000302.3(PLOD1):c.2057A>G (p.Asn686Ser) rs747393648
NM_000302.3(PLOD1):c.2069G>A (p.Arg690Gln) rs886045208
NM_000302.3(PLOD1):c.2072C>T (p.Ala691Val) rs777096767
NM_000302.3(PLOD1):c.2075C>T (p.Pro692Leu) rs557317492
NM_000302.3(PLOD1):c.2124T>C (p.His708=) rs879690
NM_000302.3(PLOD1):c.2133C>G (p.Leu711=) rs879691
NM_000302.3(PLOD1):c.2160C>T (p.Ile720=) rs140513387
NM_000302.3(PLOD1):c.2162C>T (p.Ala721Val) rs149161535
NM_000302.3(PLOD1):c.232G>T (p.Val78Phe) rs1306060482
NM_000302.3(PLOD1):c.235C>T (p.Arg79Trp) rs886045200
NM_000302.3(PLOD1):c.243G>A (p.Leu81=) rs371574381
NM_000302.3(PLOD1):c.250G>A (p.Ala84Thr) rs34878020
NM_000302.3(PLOD1):c.286A>T (p.Ile96Phe) rs763494719
NM_000302.3(PLOD1):c.294C>T (p.Phe98=) rs7529452
NM_000302.3(PLOD1):c.295G>A (p.Ala99Thr) rs7551175
NM_000302.3(PLOD1):c.302+15G>A rs140227667
NM_000302.3(PLOD1):c.302+5G>A
NM_000302.3(PLOD1):c.303-10C>T rs750987724
NM_000302.3(PLOD1):c.303C>T (p.Ser101=) rs147980436
NM_000302.3(PLOD1):c.307G>A (p.Asp103Asn) rs774590964
NM_000302.3(PLOD1):c.30G>C (p.Leu10=) rs886039113
NM_000302.3(PLOD1):c.314T>A (p.Leu105Gln) rs1553133902
NM_000302.3(PLOD1):c.358G>T (p.Ala120Ser) rs2273285
NM_000302.3(PLOD1):c.376T>G (p.Phe126Val)
NM_000302.3(PLOD1):c.475G>A (p.Gly159Ser) rs772861343
NM_000302.3(PLOD1):c.481G>A (p.Ala161Thr) rs1553134244
NM_000302.3(PLOD1):c.52G>A (p.Ala18Thr) rs373165011
NM_000302.3(PLOD1):c.534C>A (p.Ser178Arg) rs113384442
NM_000302.3(PLOD1):c.535G>T (p.Asp179Tyr) rs188165334
NM_000302.3(PLOD1):c.540G>A (p.Gln180=) rs35958757
NM_000302.3(PLOD1):c.555G>T (p.Lys185Asn) rs142978362
NM_000302.3(PLOD1):c.556A>G (p.Ile186Val) rs886045201
NM_000302.3(PLOD1):c.564G>C (p.Leu188Phe) rs201888323
NM_000302.3(PLOD1):c.567_572delCCCGGA (p.Asp189_Pro190del) rs775053632
NM_000302.3(PLOD1):c.569C>T (p.Pro190Leu)
NM_000302.3(PLOD1):c.570G>A (p.Pro190=) rs776173072
NM_000302.3(PLOD1):c.577A>C (p.Arg193=) rs569590633
NM_000302.3(PLOD1):c.579+10A>G rs538255620
NM_000302.3(PLOD1):c.579+1G>A rs797044448
NM_000302.3(PLOD1):c.579G>A (p.Arg193=) rs1553134266
NM_000302.3(PLOD1):c.608G>A (p.Arg203His) rs145482271
NM_000302.3(PLOD1):c.614G>A (p.Arg205His) rs536503346
NM_000302.3(PLOD1):c.678G>A (p.Val226=) rs371007185
NM_000302.3(PLOD1):c.712G>T (p.Val238Phe) rs777914756
NM_000302.3(PLOD1):c.742-6C>T rs569632202
NM_000302.3(PLOD1):c.77-7T>C rs371488160
NM_000302.3(PLOD1):c.774G>A (p.Pro258=) rs753994916
NM_000302.3(PLOD1):c.776G>A (p.Arg259His) rs144226170
NM_000302.3(PLOD1):c.785C>T (p.Thr262Ile) rs147940796
NM_000302.3(PLOD1):c.789C>T (p.Phe263=) rs908800499
NM_000302.3(PLOD1):c.802A>G (p.Thr268Ala) rs74354225
NM_000302.3(PLOD1):c.804C>T (p.Thr268=) rs140758113
NM_000302.3(PLOD1):c.805G>A (p.Val269Met) rs145447578
NM_000302.3(PLOD1):c.824G>A (p.Arg275His) rs184999645
NM_000302.3(PLOD1):c.844-6G>T rs767068264
NM_000302.3(PLOD1):c.860C>T (p.Thr287Met)
NM_000302.3(PLOD1):c.861G>A (p.Thr287=) rs747570972
NM_000302.3(PLOD1):c.870C>T (p.Val290=) rs373082170
NM_000302.3(PLOD1):c.871G>A (p.Gly291Ser) rs776772692
NM_000302.3(PLOD1):c.893C>T (p.Thr298Met) rs879902079
NM_000302.3(PLOD1):c.897G>A (p.Pro299=) rs199946373
NM_000302.3(PLOD1):c.89T>C (p.Val30Ala) rs777178486
NM_000302.3(PLOD1):c.905C>A (p.Ser302Tyr) rs565765056
NM_000302.3(PLOD1):c.920G>A (p.Arg307Gln) rs960778465
NM_000302.3(PLOD1):c.929G>A (p.Arg310Gln) rs992278231
NM_000302.3(PLOD1):c.931C>T (p.Leu311Phe)
NM_000302.3(PLOD1):c.947A>C (p.Lys316Thr)
NM_000302.3(PLOD1):c.949C>A (p.His317Asn)
NM_000302.3(PLOD1):c.951C>T (p.His317=) rs770032875
NM_000302.3(PLOD1):c.955C>T (p.Arg319Ter) rs121913550
NM_000302.3(PLOD1):c.965T>A (p.Ile322Asn) rs1553135172
NM_000302.3(PLOD1):c.975+13C>T rs79345327
NM_000302.3(PLOD1):c.975C>T (p.His325=) rs761576315
NM_000302.3(PLOD1):c.976-6C>A rs200825919
NM_000302.3(PLOD1):c.979C>T (p.Gln327Ter)
NM_000302.3(PLOD1):c.[136C>T];[2075C>T]
NM_000302.3:c.1930delC
NM_000302.4(PLOD1):c.613C>T (p.Arg205Cys)
NM_000302.4(PLOD1):c.622C>T (p.Gln208Ter)
NM_000302.4(PLOD1):c.775C>T (p.Arg259Cys)
NM_000393.3(COL5A2):c.1081A>C (p.Met361Leu) rs76148000
NM_000393.3(COL5A2):c.1228C>T (p.Pro410Ser) rs1042644306
NM_000393.3(COL5A2):c.1292A>G (p.Lys431Arg) rs144602736
NM_000393.3(COL5A2):c.1301C>T (p.Thr434Met) rs145850743
NM_000393.3(COL5A2):c.1378C>T (p.Pro460Ser) rs35830636
NM_000393.3(COL5A2):c.1400C>T (p.Pro467Leu) rs115570272
NM_000393.3(COL5A2):c.1412G>C (p.Gly471Ala) rs779614415
NM_000393.3(COL5A2):c.1579C>T (p.Arg527Cys) rs863223490
NM_000393.3(COL5A2):c.1621G>T (p.Ala541Ser) rs768348357
NM_000393.3(COL5A2):c.1633C>T (p.Arg545Trp) rs145258293
NM_000393.3(COL5A2):c.1697C>T (p.Pro566Leu) rs1051400743
NM_000393.3(COL5A2):c.1976C>T (p.Pro659Leu) rs145404046
NM_000393.3(COL5A2):c.198T>C (p.Asn66=) rs76511879
NM_000393.3(COL5A2):c.2008C>A (p.Pro670Thr) rs904166744
NM_000393.3(COL5A2):c.2011C>T (p.Pro671Ser) rs139189200
NM_000393.3(COL5A2):c.2263A>C (p.Thr755Pro) rs34395097
NM_000393.3(COL5A2):c.2408T>C (p.Leu803Ser) rs149737825
NM_000393.3(COL5A2):c.2562C>T (p.Asp854=) rs148430780
NM_000393.3(COL5A2):c.261G>A (p.Thr87=) rs142044596
NM_000393.3(COL5A2):c.2627G>A (p.Gly876Glu) rs886039694
NM_000393.3(COL5A2):c.263C>A (p.Pro88His) rs149877855
NM_000393.3(COL5A2):c.2648C>A (p.Ser883Tyr) rs773515722
NM_000393.3(COL5A2):c.2741C>T (p.Ala914Val) rs201486858
NM_000393.3(COL5A2):c.284T>A (p.Val95Asp) rs759604513
NM_000393.3(COL5A2):c.3038C>T (p.Ala1013Val) rs372220538
NM_000393.3(COL5A2):c.3170C>A (p.Thr1057Asn) rs201186702
NM_000393.3(COL5A2):c.3178C>T (p.Arg1060Trp) rs374549843
NM_000393.3(COL5A2):c.3208C>T (p.Arg1070Cys) rs754429372
NM_000393.3(COL5A2):c.3268C>T (p.Pro1090Ser) rs761543775
NM_000393.3(COL5A2):c.3343G>C (p.Ala1115Pro) rs748601646
NM_000393.3(COL5A2):c.3373G>A (p.Gly1125Arg) rs151187317
NM_000393.3(COL5A2):c.3385G>A (p.Asp1129Asn) rs199802059
NM_000393.3(COL5A2):c.3391G>A (p.Gly1131Ser) rs747946828
NM_000393.3(COL5A2):c.3407G>A (p.Arg1136Gln) rs562950263
NM_000393.3(COL5A2):c.3488A>G (p.Gln1163Arg) rs758412337
NM_000393.3(COL5A2):c.34C>T (p.Leu12Phe) rs768807471
NM_000393.3(COL5A2):c.3614T>C (p.Val1205Ala) rs148110552
NM_000393.3(COL5A2):c.3689C>G (p.Thr1230Arg) rs62184175
NM_000393.3(COL5A2):c.376G>A (p.Gly126Ser) rs779153546
NM_000393.3(COL5A2):c.3919C>G (p.Gln1307Glu) rs142814184
NM_000393.3(COL5A2):c.4067A>G (p.Asp1356Gly) rs140952583
NM_000393.3(COL5A2):c.4450G>A (p.Gly1484Ser) rs147420365
NM_000393.3(COL5A2):c.4451G>A (p.Gly1484Asp) rs761481937
NM_000393.3(COL5A2):c.5T>C (p.Met2Thr) rs762874073
NM_000393.3(COL5A2):c.75A>G (p.Lys25=) rs549894501
NM_000393.4(COL5A2):c.1005+10C>T rs767297800
NM_000393.4(COL5A2):c.1006-8G>A rs200405052
NM_000393.4(COL5A2):c.1006-9C>T rs73978832
NM_000393.4(COL5A2):c.1010C>T (p.Pro337Leu) rs766349082
NM_000393.4(COL5A2):c.1021C>T (p.Pro341Ser) rs538602187
NM_000393.4(COL5A2):c.1035G>C (p.Gly345=) rs148786600
NM_000393.4(COL5A2):c.1059+9A>G rs776100559
NM_000393.4(COL5A2):c.1067G>A (p.Arg356Gln) rs761072017
NM_000393.4(COL5A2):c.1175C>T (p.Thr392Ile) rs1553515880
NM_000393.4(COL5A2):c.117A>T (p.Ile39=) rs1060504379
NM_000393.4(COL5A2):c.1182G>A (p.Ala394=) rs148229627
NM_000393.4(COL5A2):c.118G>A (p.Ala40Thr)
NM_000393.4(COL5A2):c.119C>T (p.Ala40Val) rs758092388
NM_000393.4(COL5A2):c.1261G>A (p.Ala421Thr) rs200839338
NM_000393.4(COL5A2):c.1302G>A (p.Thr434=)
NM_000393.4(COL5A2):c.1311A= (p.Pro437=) rs2229495
NM_000393.4(COL5A2):c.1324C>T (p.Pro442Ser) rs1008978987
NM_000393.4(COL5A2):c.1352C>T (p.Ser451Phe) rs778385867
NM_000393.4(COL5A2):c.1391G>A (p.Arg464Gln) rs1553515798
NM_000393.4(COL5A2):c.1406A>G (p.Asp469Gly) rs1553515681
NM_000393.4(COL5A2):c.1454C>A (p.Pro485Gln) rs145281966
NM_000393.4(COL5A2):c.1455+6G>A rs113512079
NM_000393.4(COL5A2):c.1455+6G>T rs113512079
NM_000393.4(COL5A2):c.1463A>G (p.His488Arg)
NM_000393.4(COL5A2):c.1535T>C (p.Val512Ala) rs35852101
NM_000393.4(COL5A2):c.1542T>C (p.Pro514=) rs770622592
NM_000393.4(COL5A2):c.1563+5A>G rs777118100
NM_000393.4(COL5A2):c.1617+4A>G rs1553515517
NM_000393.4(COL5A2):c.1636G>A (p.Gly546Ser)
NM_000393.4(COL5A2):c.1658C>A (p.Pro553His) rs149203102
NM_000393.4(COL5A2):c.1681G>A (p.Gly561Arg) rs1184276149
NM_000393.4(COL5A2):c.1685G>A (p.Arg562His) rs1199481029
NM_000393.4(COL5A2):c.1693G>C (p.Glu565Gln) rs730880066
NM_000393.4(COL5A2):c.16G>T (p.Ala6Ser) rs372910621
NM_000393.4(COL5A2):c.1714C>T (p.Arg572Trp) rs768322852
NM_000393.4(COL5A2):c.1716+9A>G rs201934598
NM_000393.4(COL5A2):c.1738G>A (p.Val580Ile) rs771004951
NM_000393.4(COL5A2):c.173C>A (p.Pro58His) rs766925699
NM_000393.4(COL5A2):c.1792C>T (p.Arg598Cys) rs1060501906
NM_000393.4(COL5A2):c.1814T>C (p.Ile605Thr) rs746339285
NM_000393.4(COL5A2):c.186T>C (p.Cys62=) rs142832916
NM_000393.4(COL5A2):c.1923+8T>C rs191193125
NM_000393.4(COL5A2):c.1924-2_1928del rs786205103
NM_000393.4(COL5A2):c.1924-4C>G
NM_000393.4(COL5A2):c.1933G>A (p.Gly645Arg)
NM_000393.4(COL5A2):c.1973C>T (p.Pro658Leu) rs746458284
NM_000393.4(COL5A2):c.1977G>A (p.Pro659=) rs863223491
NM_000393.4(COL5A2):c.2031+1G>T rs786205104
NM_000393.4(COL5A2):c.2032-7G>A rs141571092
NM_000393.4(COL5A2):c.2092C>A (p.Pro698Thr)
NM_000393.4(COL5A2):c.2111T>C (p.Val704Ala) rs542643688
NM_000393.4(COL5A2):c.2117C>T (p.Pro706Leu) rs146175905
NM_000393.4(COL5A2):c.2168G>A (p.Gly723Glu) rs1553514920
NM_000393.4(COL5A2):c.2210delAinsGTCC (p.His737delinsArgPro)
NM_000393.4(COL5A2):c.2228A>C (p.Lys743Thr) rs372812220
NM_000393.4(COL5A2):c.228C>T (p.Cys76=) rs564136480
NM_000393.4(COL5A2):c.2291C>G (p.Pro764Arg) rs150260969
NM_000393.4(COL5A2):c.2291C>T (p.Pro764Leu)
NM_000393.4(COL5A2):c.2307T>A (p.Ile769=) rs763068575
NM_000393.4(COL5A2):c.2334C>T (p.Asp778=) rs138457003
NM_000393.4(COL5A2):c.2337+8C>T rs999144463
NM_000393.4(COL5A2):c.2338-6T>C rs375291199
NM_000393.4(COL5A2):c.2344A>G (p.Ile782Val) rs1270917752
NM_000393.4(COL5A2):c.2376A>C (p.Gly792=) rs35860166
NM_000393.4(COL5A2):c.238C>G (p.Leu80Val) rs746454126
NM_000393.4(COL5A2):c.2424G>A (p.Pro808=) rs200019093
NM_000393.4(COL5A2):c.2498C>T (p.Pro833Leu) rs116298748
NM_000393.4(COL5A2):c.249C>T (p.Ala83=) rs142388534
NM_000393.4(COL5A2):c.2506C>G (p.Arg836Gly) rs367718811
NM_000393.4(COL5A2):c.250G>A (p.Asp84Asn) rs745528957
NM_000393.4(COL5A2):c.2544C>T (p.Ala848=) rs370774253
NM_000393.4(COL5A2):c.2553+2del rs1553514506
NM_000393.4(COL5A2):c.2554-14A>G rs142429770
NM_000393.4(COL5A2):c.2554-5T>C rs373495598
NM_000393.4(COL5A2):c.2562C>A (p.Asp854Glu) rs148430780
NM_000393.4(COL5A2):c.2602C>A (p.Gln868Lys) rs1553514451
NM_000393.4(COL5A2):c.2641G>T (p.Ala881Ser) rs760858324
NM_000393.4(COL5A2):c.2716-4C>T rs111644889
NM_000393.4(COL5A2):c.2770-5A>G rs370313198
NM_000393.4(COL5A2):c.2770-6T>C rs770409954
NM_000393.4(COL5A2):c.2787G>A (p.Ala929=) rs151027388
NM_000393.4(COL5A2):c.2834G>A (p.Gly945Glu) rs868695034
NM_000393.4(COL5A2):c.2855G>A (p.Arg952His) rs139264859
NM_000393.4(COL5A2):c.2863G>A (p.Asp955Asn) rs754751410
NM_000393.4(COL5A2):c.2867G>C (p.Arg956Pro) rs6434313
NM_000393.4(COL5A2):c.2882C>T (p.Pro961Leu) rs778835151
NM_000393.4(COL5A2):c.288T>C (p.Cys96=) rs577308799
NM_000393.4(COL5A2):c.2895A>G (p.Pro965=) rs760946138
NM_000393.4(COL5A2):c.2947C>T (p.Pro983Ser) rs141644853
NM_000393.4(COL5A2):c.2963C>T (p.Thr988Met) rs369072636
NM_000393.4(COL5A2):c.2964G>A (p.Thr988=) rs1060504380
NM_000393.4(COL5A2):c.3017T>A (p.Met1006Lys) rs930378570
NM_000393.4(COL5A2):c.3022G>A (p.Gly1008Ser) rs909634945
NM_000393.4(COL5A2):c.3098C>T (p.Pro1033Leu) rs75542756
NM_000393.4(COL5A2):c.3148-2A>G rs1553513971
NM_000393.4(COL5A2):c.315C= (p.Thr105=) rs4128539
NM_000393.4(COL5A2):c.315_316delCAinsCG (p.Asn106Asp) rs1449512324
NM_000393.4(COL5A2):c.3169A>G (p.Thr1057Ala)
NM_000393.4(COL5A2):c.3178C>A (p.Arg1060=) rs374549843
NM_000393.4(COL5A2):c.3196G>A (p.Glu1066Lys)
NM_000393.4(COL5A2):c.3209G>A (p.Arg1070His) rs373288848
NM_000393.4(COL5A2):c.322+8T>C rs372227642
NM_000393.4(COL5A2):c.3222G>A (p.Gly1074=) rs149574060
NM_000393.4(COL5A2):c.3248G>A (p.Gly1083Asp)
NM_000393.4(COL5A2):c.3309+1G>A rs1553513657
NM_000393.4(COL5A2):c.3309G>A (p.Pro1103=) rs878853978
NM_000393.4(COL5A2):c.3311G>T (p.Gly1104Val)
NM_000393.4(COL5A2):c.3316C>T (p.Arg1106Trp) rs146789395
NM_000393.4(COL5A2):c.33C>T (p.Leu11=) rs140108893
NM_000393.4(COL5A2):c.3411T= (p.Gly1137=) rs6434312
NM_000393.4(COL5A2):c.3445G>C (p.Gly1149Arg) rs121912930
NM_000393.4(COL5A2):c.3471+8A>T rs367643805
NM_000393.4(COL5A2):c.3513A>G (p.Pro1171=) rs754108091
NM_000393.4(COL5A2):c.3533C>A (p.Pro1178Gln) rs1060501905
NM_000393.4(COL5A2):c.3542T>G (p.Val1181Gly)
NM_000393.4(COL5A2):c.3611G>A (p.Ser1204Asn) rs1060501907
NM_000393.4(COL5A2):c.3646G>A (p.Glu1216Lys) rs755429175
NM_000393.4(COL5A2):c.3658C>T (p.Pro1220Ser) rs770554435
NM_000393.4(COL5A2):c.3668C>T (p.Pro1223Leu) rs753383064
NM_000393.4(COL5A2):c.3676C>T (p.Pro1226Ser) rs199621926
NM_000393.4(COL5A2):c.369+1G>T
NM_000393.4(COL5A2):c.370-16C>T rs148220961
NM_000393.4(COL5A2):c.3728G>A (p.Ser1243Asn) rs140851866
NM_000393.4(COL5A2):c.3733C>T (p.Pro1245Ser) rs376971803
NM_000393.4(COL5A2):c.379A>C (p.Ile127Leu)
NM_000393.4(COL5A2):c.3837T>C (p.Ile1279=) rs148795690
NM_000393.4(COL5A2):c.3854C>T (p.Pro1285Leu) rs867460091
NM_000393.4(COL5A2):c.3878C>T (p.Ala1293Val) rs1251846979
NM_000393.4(COL5A2):c.3880C>T (p.Arg1294Cys) rs758136981
NM_000393.4(COL5A2):c.3889G>A (p.Asp1297Asn) rs1553512886
NM_000393.4(COL5A2):c.389G>A (p.Arg130His) rs377331666
NM_000393.4(COL5A2):c.3913G>A (p.Ala1305Thr) rs372897632
NM_000393.4(COL5A2):c.3969A>C (p.Ala1323=) rs1131429
NM_000393.4(COL5A2):c.3975A>G (p.Lys1325=) rs775697182
NM_000393.4(COL5A2):c.403-3T>C rs369733690
NM_000393.4(COL5A2):c.4037G>A (p.Arg1346His) rs143163673
NM_000393.4(COL5A2):c.4085A>G (p.Tyr1362Cys)
NM_000393.4(COL5A2):c.4153A>G (p.Thr1385Ala)
NM_000393.4(COL5A2):c.4163C>A (p.Thr1388Asn) rs771415085
NM_000393.4(COL5A2):c.4163C>T (p.Thr1388Ile) rs771415085
NM_000393.4(COL5A2):c.4173C>G (p.Arg1391=) rs148590409
NM_000393.4(COL5A2):c.4197G>A (p.Gln1399=) rs78870279
NM_000393.4(COL5A2):c.4240G>A (p.Asp1414Asn) rs139229616
NM_000393.4(COL5A2):c.4295A>T (p.Asp1432Val) rs141777954
NM_000393.4(COL5A2):c.4298del (p.Ile1433Thrfs) rs1553512393
NM_000393.4(COL5A2):c.4307A>G (p.Glu1436Gly) rs371259794
NM_000393.4(COL5A2):c.4357C>T (p.Arg1453Trp)
NM_000393.4(COL5A2):c.4358G>A (p.Arg1453Gln) rs149064715
NM_000393.4(COL5A2):c.4362T>A (p.Asn1454Lys) rs372170366
NM_000393.4(COL5A2):c.4389A>G (p.Glu1463=) rs146100075
NM_000393.4(COL5A2):c.4392T>C (p.Tyr1464=) rs142544320
NM_000393.4(COL5A2):c.4409C>T (p.Ala1470Val) rs140109751
NM_000393.4(COL5A2):c.4443T>C (p.Asp1481=) rs142857608
NM_000393.4(COL5A2):c.4449C>T (p.Gly1483=) rs78905646
NM_000393.4(COL5A2):c.4470C>T (p.Gly1490=) rs142895373
NM_000393.4(COL5A2):c.4471G>A (p.Val1491Ile) rs200703515
NM_000393.4(COL5A2):c.4495G>T (p.Val1499Leu) rs527433112
NM_000393.4(COL5A2):c.519A>C (p.Pro173=) rs1553517803
NM_000393.4(COL5A2):c.567+7T>C rs755666206
NM_000393.4(COL5A2):c.570G>A (p.Pro190=) rs139666335
NM_000393.4(COL5A2):c.750G>A (p.Pro250=) rs751819198
NM_000393.4(COL5A2):c.798+5G>A rs1296613540
NM_000393.4(COL5A2):c.799-9dup rs1169314276
NM_000393.4(COL5A2):c.870T>C (p.Pro290=) rs139656817
NM_000393.4(COL5A2):c.955T>C (p.Ser319Pro) rs1060501908
NM_000393.4(COL5A2):c.961-3delT rs542134887
NM_000393.4(COL5A2):c.975C>T (p.Pro325=) rs144344474
NM_000393.4(COL5A2):c.985A>G (p.Met329Val) rs140785678
NM_000393.5(COL5A2):c.2970G>C (p.Gly990=)
NM_000393.5(COL5A2):c.3363+2T>C
NM_000393.5(COL5A2):c.875C>T (p.Ala292Val)
NM_000477.5(ALB):c.71G>A (p.Arg24Gln) rs74821926
NM_001040114.1(MYH11):c.2160G>C (p.Gln720His) rs779897931
NM_001110556.1(FLNA):c.1045G>T (p.Glu349Ter) rs370490152
NM_001110556.1(FLNA):c.1061_1065delATAAG (p.His354Argfs) rs786205180
NM_001110556.1(FLNA):c.1065G>A (p.Lys355=) rs1557179325
NM_001110556.1(FLNA):c.116C>G (p.Ala39Gly) rs137853313
NM_001110556.1(FLNA):c.1176G>A (p.Glu392=) rs201173693
NM_001110556.1(FLNA):c.1286C>T (p.Thr429Met) rs36051194
NM_001110556.1(FLNA):c.137delA (p.Gln46Argfs) rs786205181
NM_001110556.1(FLNA):c.1429+8C>T rs202181557
NM_001110556.1(FLNA):c.1430-1G>T rs786205177
NM_001110556.1(FLNA):c.1571G>A (p.Gly524Glu) rs1557178957
NM_001110556.1(FLNA):c.1722T>A (p.Cys574Ter) rs786205182
NM_001110556.1(FLNA):c.1829-2A>G rs786205183
NM_001110556.1(FLNA):c.1850C>T (p.Ser617Leu) rs782193139
NM_001110556.1(FLNA):c.1923C>T (p.Gly641=) rs80338841
NM_001110556.1(FLNA):c.1966C>T (p.Leu656Phe) rs137853311
NM_001110556.1(FLNA):c.2023-4C>G rs368719012
NM_001110556.1(FLNA):c.2023-6C>T rs372021340
NM_001110556.1(FLNA):c.2280+389T>A rs1557178535
NM_001110556.1(FLNA):c.245A>T (p.Glu82Val) rs28935169
NM_001110556.1(FLNA):c.2565+1G>C rs786205186
NM_001110556.1(FLNA):c.2761C>T (p.Arg921Ter) rs398123614
NM_001110556.1(FLNA):c.3035C>T (p.Ser1012Leu) rs17091204
NM_001110556.1(FLNA):c.3323G>A (p.Cys1108Tyr) rs371677498
NM_001110556.1(FLNA):c.3529delG (p.Glu1177Argfs) rs786205188
NM_001110556.1(FLNA):c.3557C>T (p.Ser1186Leu) rs137853312
NM_001110556.1(FLNA):c.3690C>T (p.Thr1230=) rs35015603
NM_001110556.1(FLNA):c.373+1G>A rs863223296
NM_001110556.1(FLNA):c.383C>T (p.Ala128Val) rs137853315
NM_001110556.1(FLNA):c.3875_3888dup (p.Val1297Thrfs) rs786205189
NM_001110556.1(FLNA):c.3980-5_3990dup rs786205190
NM_001110556.1(FLNA):c.4006delG (p.Asp1336Thrfs) rs786205191
NM_001110556.1(FLNA):c.4060G>A (p.Asp1354Asn) rs377390031
NM_001110556.1(FLNA):c.42delC (p.Ala15Argfs) rs398123619
NM_001110556.1(FLNA):c.4447_4448insAT (p.Leu1483Tyrfs) rs398123620
NM_001110556.1(FLNA):c.4450C>T (p.Gln1484Ter) rs1057516198
NM_001110556.1(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356
NM_001110556.1(FLNA):c.4528A>C (p.Asn1510His) rs1557177310
NM_001110556.1(FLNA):c.4617_4618delGC (p.Leu1540Alafs) rs786205194
NM_001110556.1(FLNA):c.4866C>T (p.Tyr1622=) rs200835571
NM_001110556.1(FLNA):c.4920G>A (p.Gly1640=) rs61741041
NM_001110556.1(FLNA):c.4935C>A (p.Cys1645Ter) rs786205197
NM_001110556.1(FLNA):c.4943delC (p.Thr1648Lysfs) rs786205198
NM_001110556.1(FLNA):c.5021_5022delTG (p.Val1674Glyfs) rs786205199
NM_001110556.1(FLNA):c.5075_5092dup (p.Asp1697_Val1698insAspGlySerGluValAsp)
NM_001110556.1(FLNA):c.5132_5133delTCinsAA (p.Phe1711Ter) rs398123621
NM_001110556.1(FLNA):c.5278C>T (p.Gln1760Ter) rs886044824
NM_001110556.1(FLNA):c.5290G>A (p.Ala1764Thr) rs57108893
NM_001110556.1(FLNA):c.543G>A (p.Pro181=) rs201486643
NM_001110556.1(FLNA):c.544C>T (p.Gln182Ter) rs137853310
NM_001110556.1(FLNA):c.586C>T (p.Arg196Trp) rs137853317
NM_001110556.1(FLNA):c.623-20_623-12del rs786205200
NM_001110556.1(FLNA):c.623-3C>G rs398123622
NM_001110556.1(FLNA):c.6355_6356delAA (p.Lys2119Valfs) rs786205201
NM_001110556.1(FLNA):c.6580G>T (p.Glu2194Ter) rs786205202
NM_001110556.1(FLNA):c.6612C>T (p.Pro2204=) rs375499070
NM_001110556.1(FLNA):c.6635_6638delTCAG (p.Val2212Alafs) rs786205178
NM_001110556.1(FLNA):c.663C>T (p.Pro221=) rs2073470
NM_001110556.1(FLNA):c.6742C>T (p.Leu2248=) rs113510895
NM_001110556.1(FLNA):c.6915C>G (p.Tyr2305Ter) rs781910090
NM_001110556.1(FLNA):c.7153C>T (p.Gln2385Ter) rs727503931
NM_001110556.1(FLNA):c.720+2T>C rs863223295
NM_001110556.1(FLNA):c.732dupC (p.Glu245Argfs) rs786205203
NM_001110556.1(FLNA):c.760G>A (p.Glu254Lys) rs28935470
NM_001110556.1(FLNA):c.7896G>A (p.Trp2632Ter) rs398122812
NM_001110556.1(FLNA):c.82A>G (p.Met28Val) rs1557180226
NM_001110556.1(FLNA):c.853C>T (p.Arg285Cys) rs1557179536
NM_001110556.1(FLNA):c.987+1G>A rs786205204
NM_001110556.1(FLNA):c.999_1008dup (p.Asp337Argfs) rs1557179357
NM_001110556.2(FLNA):c.1204A>G (p.Thr402Ala)
NM_001110556.2(FLNA):c.2364G>A (p.Glu788=)
NM_001110556.2(FLNA):c.2762del (p.Arg921Glnfs)
NM_001110556.2(FLNA):c.287_291del (p.Arg96Hisfs) rs863223297
NM_001110556.2(FLNA):c.4147del (p.Ala1383Leufs) rs863223299
NM_001110556.2(FLNA):c.4314C>G (p.Phe1438Leu)
NM_001110556.2(FLNA):c.494A>G (p.Lys165Arg)
NM_001110556.2(FLNA):c.6532G>C (p.Val2178Leu)
NM_001127464.2(ZNF469):c.*1001A>G rs3848234
NM_001127464.2(ZNF469):c.*1071A>T rs536887736
NM_001127464.2(ZNF469):c.*1323G>A rs780254370
NM_001127464.2(ZNF469):c.*1348G>A rs886052428
NM_001127464.2(ZNF469):c.*216G>A rs146964491
NM_001127464.2(ZNF469):c.*218G>A rs137889724
NM_001127464.2(ZNF469):c.*264A>G rs193210256
NM_001127464.2(ZNF469):c.*285C>T rs35994806
NM_001127464.2(ZNF469):c.*420G>A rs45532839
NM_001127464.2(ZNF469):c.*421G>T rs148260049
NM_001127464.2(ZNF469):c.*46C>A rs78600508
NM_001127464.2(ZNF469):c.*491T>C rs557906701
NM_001127464.2(ZNF469):c.*492G>A rs190108769
NM_001127464.2(ZNF469):c.*499A>G rs537339757
NM_001127464.2(ZNF469):c.*518G>A rs563015267
NM_001127464.2(ZNF469):c.*547G>T rs370886541
NM_001127464.2(ZNF469):c.*578_*604dup rs6145934
NM_001127464.2(ZNF469):c.*599C>G rs146233624
NM_001127464.2(ZNF469):c.*617C>T rs886052422
NM_001127464.2(ZNF469):c.*618T>G rs3859020
NM_001127464.2(ZNF469):c.*634C>A rs74032868
NM_001127464.2(ZNF469):c.*649C>G rs561472955
NM_001127464.2(ZNF469):c.*664C>T rs886052423
NM_001127464.2(ZNF469):c.*665G>A rs75706884
NM_001127464.2(ZNF469):c.*788G>A rs3894713
NM_001127464.2(ZNF469):c.*792A>G rs886052424
NM_001127464.2(ZNF469):c.*845T>C rs7187709
NM_001127464.2(ZNF469):c.*870delT rs35684712
NM_001127464.2(ZNF469):c.*879T>C rs886052426
NM_001127464.2(ZNF469):c.*8G>A rs45504291
NM_001127464.2(ZNF469):c.*907G>A rs1048192
NM_001127464.2(ZNF469):c.*921_*922insG rs11382974
NM_001127464.2(ZNF469):c.*932A>G rs886052427
NM_001127464.2(ZNF469):c.10016G>A (p.Cys3339Tyr) rs387907062
NM_001127464.2(ZNF469):c.1020C>T (p.Gly340=) rs273585633
NM_001127464.2(ZNF469):c.10241G>T (p.Arg3414Met) rs199528724
NM_001127464.2(ZNF469):c.10242G>C (p.Arg3414Ser) rs56236932
NM_001127464.2(ZNF469):c.10244G>T (p.Gly3415Val) rs140056980
NM_001127464.2(ZNF469):c.10246G>C (p.Gly3416Arg) rs569602115
NM_001127464.2(ZNF469):c.10247G>T (p.Gly3416Val) rs530393871
NM_001127464.2(ZNF469):c.10488C>T (p.Pro3496=) rs763317477
NM_001127464.2(ZNF469):c.1048G>A (p.Asp350Asn) rs568820656
NM_001127464.2(ZNF469):c.10515C>T (p.Pro3505=) rs78022634
NM_001127464.2(ZNF469):c.10616G>A (p.Gly3539Glu) rs199610834
NM_001127464.2(ZNF469):c.10624G>A (p.Ala3542Thr) rs57052487
NM_001127464.2(ZNF469):c.10656C>T (p.Asn3552=) rs527707590
NM_001127464.2(ZNF469):c.1069T>C (p.Ser357Pro) rs11648572
NM_001127464.2(ZNF469):c.10804C>T (p.Arg3602Cys) rs200668806
NM_001127464.2(ZNF469):c.10888G>C (p.Glu3630Gln) rs1105066
NM_001127464.2(ZNF469):c.10891G>A (p.Gly3631Arg) rs3812951
NM_001127464.2(ZNF469):c.10906G= (p.Ala3636=) rs904783
NM_001127464.2(ZNF469):c.10968G>A (p.Ser3656=) rs780722176
NM_001127464.2(ZNF469):c.1098A>C (p.Arg366Ser) rs11640794
NM_001127464.2(ZNF469):c.11023G>A (p.Val3675Met) rs151127652
NM_001127464.2(ZNF469):c.11025G>T (p.Val3675=) rs886052419
NM_001127464.2(ZNF469):c.11119A>G (p.Ser3707Gly) rs536054902
NM_001127464.2(ZNF469):c.11325G>C (p.Gly3775=) rs150233193
NM_001127464.2(ZNF469):c.11341G>A (p.Glu3781Lys) rs201834513
NM_001127464.2(ZNF469):c.1143C>A (p.Pro381=) rs74032864
NM_001127464.2(ZNF469):c.11452C>G (p.Arg3818Gly) rs886052420
NM_001127464.2(ZNF469):c.11462G>A (p.Arg3821Gln) rs775672255
NM_001127464.2(ZNF469):c.11482C>T (p.Arg3828Cys) rs762894872
NM_001127464.2(ZNF469):c.11574G>C (p.Gln3858His) rs182269913
NM_001127464.2(ZNF469):c.11673A>G (p.Pro3891=) rs4782301
NM_001127464.2(ZNF469):c.11725G>A (p.Gly3909Arg) rs886052421
NM_001127464.2(ZNF469):c.11737A>C (p.Thr3913Pro) rs1555520642
NM_001127464.2(ZNF469):c.11738C>T (p.Thr3913Ile) rs766057875
NM_001127464.2(ZNF469):c.11772C>T (p.Ser3924=) rs4782362
NM_001127464.2(ZNF469):c.1285G>A (p.Ala429Thr) rs113937803
NM_001127464.2(ZNF469):c.139G>A (p.Gly47Ser) rs138954293
NM_001127464.2(ZNF469):c.142G>A (p.Ala48Thr) rs886052388
NM_001127464.2(ZNF469):c.1471G>A (p.Ala491Thr) rs117555121
NM_001127464.2(ZNF469):c.1483C>T (p.Pro495Ser) rs202205643
NM_001127464.2(ZNF469):c.1489G>A (p.Gly497Arg) rs28723506
NM_001127464.2(ZNF469):c.1528G>A (p.Gly510Ser) rs755555951
NM_001127464.2(ZNF469):c.1529G>C (p.Gly510Ala) rs7199961
NM_001127464.2(ZNF469):c.1547G>C (p.Gly516Ala) rs753160761
NM_001127464.2(ZNF469):c.1584G>A (p.Pro528=) rs143852982
NM_001127464.2(ZNF469):c.1615A>T (p.Ser539Cys) rs189476639
NM_001127464.2(ZNF469):c.1663G>A (p.Asp555Asn) rs749179728
NM_001127464.2(ZNF469):c.1697C>T (p.Ala566Val) rs181785233
NM_001127464.2(ZNF469):c.1719C>T (p.His573=) rs552893295
NM_001127464.2(ZNF469):c.1776A>G (p.Pro592=) rs12927001
NM_001127464.2(ZNF469):c.1827G>A (p.Ser609=) rs148616993
NM_001127464.2(ZNF469):c.1856G>T (p.Ser619Ile) rs1187845779
NM_001127464.2(ZNF469):c.1875C>A (p.Leu625=) rs886052392
NM_001127464.2(ZNF469):c.1882C>A (p.Pro628Thr) rs886052393
NM_001127464.2(ZNF469):c.1896G>A (p.Ser632=) rs554795578
NM_001127464.2(ZNF469):c.1932G>C (p.Thr644=) rs539996728
NM_001127464.2(ZNF469):c.1982A>G (p.Tyr661Cys) rs886052394
NM_001127464.2(ZNF469):c.1994C>T (p.Pro665Leu) rs184583062
NM_001127464.2(ZNF469):c.2034C>T (p.Ala678=) rs58401704
NM_001127464.2(ZNF469):c.2035G>A (p.Glu679Lys) rs551591362
NM_001127464.2(ZNF469):c.2085C>T (p.Pro695=) rs74547407
NM_001127464.2(ZNF469):c.2130T>C (p.Pro710=) rs12918876
NM_001127464.2(ZNF469):c.2132C>G (p.Pro711Arg) rs571184307
NM_001127464.2(ZNF469):c.2270T>G (p.Leu757Arg) rs753664726
NM_001127464.2(ZNF469):c.2361C>G (p.His787Gln) rs886052395
NM_001127464.2(ZNF469):c.2370G>A (p.Leu790=) rs147859144
NM_001127464.2(ZNF469):c.2407G>T (p.Ala803Ser) rs113484918
NM_001127464.2(ZNF469):c.2574G>C (p.Pro858=) rs74384633
NM_001127464.2(ZNF469):c.2652C>G (p.Pro884=) rs767431034
NM_001127464.2(ZNF469):c.2666C>T (p.Ala889Val) rs145186655
NM_001127464.2(ZNF469):c.2693C>T (p.Pro898Leu) rs754458926
NM_001127464.2(ZNF469):c.2699C>T (p.Pro900Leu) rs273585618
NM_001127464.2(ZNF469):c.2717C>T (p.Pro906Leu) rs77951481
NM_001127464.2(ZNF469):c.2803G>A (p.Glu935Lys) rs117995699
NM_001127464.2(ZNF469):c.2810A>T (p.Asp937Val) rs550198026
NM_001127464.2(ZNF469):c.2814G>A (p.Ala938=) rs140480823
NM_001127464.2(ZNF469):c.2873T>C (p.Leu958Pro) rs370402083
NM_001127464.2(ZNF469):c.2913C>A (p.Gly971=) rs60462217
NM_001127464.2(ZNF469):c.2914_2919delGGCGGC (p.Gly972_Gly973del) rs775423936
NM_001127464.2(ZNF469):c.2929G>C (p.Gly977Arg) rs770061832
NM_001127464.2(ZNF469):c.2931C>T (p.Gly977=) rs539527724
NM_001127464.2(ZNF469):c.2951_2953delACG (p.Asp984del) rs886052397
NM_001127464.2(ZNF469):c.2952C>T (p.Asp984=) rs886052398
NM_001127464.2(ZNF469):c.2953G>A (p.Gly985Ser) rs886052399
NM_001127464.2(ZNF469):c.2986C>A (p.Arg996Ser) rs886052400
NM_001127464.2(ZNF469):c.3125G>A (p.Arg1042Gln) rs181077813
NM_001127464.2(ZNF469):c.3153T>C (p.Ile1051=) rs9924504
NM_001127464.2(ZNF469):c.3179+4C>T rs756703220
NM_001127464.2(ZNF469):c.3180-9G>C rs886052401
NM_001127464.2(ZNF469):c.3237G>A (p.Arg1079=) rs763826959
NM_001127464.2(ZNF469):c.3242C>T (p.Pro1081Leu) rs562264117
NM_001127464.2(ZNF469):c.3368C>T (p.Ala1123Val) rs755348435
NM_001127464.2(ZNF469):c.3388C>T (p.Pro1130Ser) rs184894059
NM_001127464.2(ZNF469):c.3401G>T (p.Arg1134Leu) rs886052402
NM_001127464.2(ZNF469):c.3422C>T (p.Pro1141Leu) rs769853271
NM_001127464.2(ZNF469):c.3432T>C (p.Arg1144=) rs111557381
NM_001127464.2(ZNF469):c.3438G>A (p.Pro1146=) rs9938800
NM_001127464.2(ZNF469):c.3481C>A (p.Pro1161Thr) rs766878740
NM_001127464.2(ZNF469):c.3484A>G (p.Lys1162Glu) rs7197071
NM_001127464.2(ZNF469):c.3566C>T (p.Pro1189Leu) rs115183769
NM_001127464.2(ZNF469):c.3689C>A (p.Ala1230Glu) rs141255631
NM_001127464.2(ZNF469):c.3692G>A (p.Ser1231Asn) rs886052403
NM_001127464.2(ZNF469):c.376A>G (p.Ser126Gly) rs886052389
NM_001127464.2(ZNF469):c.3810G>C (p.Val1270=) rs115790991
NM_001127464.2(ZNF469):c.3834G>A (p.Gly1278=) rs768501538
NM_001127464.2(ZNF469):c.3847C>T (p.Pro1283Ser) rs187453092
NM_001127464.2(ZNF469):c.3866A>G (p.Lys1289Arg) rs772817384
NM_001127464.2(ZNF469):c.402C>T (p.Asp134=) rs569036398
NM_001127464.2(ZNF469):c.4111C>T (p.His1371Tyr) rs886052404
NM_001127464.2(ZNF469):c.4114C>A (p.Pro1372Thr) rs145158875
NM_001127464.2(ZNF469):c.4132G>T (p.Asp1378Tyr) rs557997233
NM_001127464.2(ZNF469):c.4143G>A (p.Pro1381=) rs371897217
NM_001127464.2(ZNF469):c.4174G>T (p.Glu1392Ter) rs387907063
NM_001127464.2(ZNF469):c.4259C>T (p.Pro1420Leu) rs4782300
NM_001127464.2(ZNF469):c.4279C>G (p.Leu1427Val) rs116532825
NM_001127464.2(ZNF469):c.4292T>G (p.Leu1431Arg) rs559625962
NM_001127464.2(ZNF469):c.4322A>G (p.Tyr1441Cys) rs116072997
NM_001127464.2(ZNF469):c.4335T>G (p.Ser1445=) rs12445417
NM_001127464.2(ZNF469):c.4337C>T (p.Ala1446Val) rs199897247
NM_001127464.2(ZNF469):c.4350C>T (p.Ser1450=) rs74032865
NM_001127464.2(ZNF469):c.4372G>A (p.Asp1458Asn) rs373777402
NM_001127464.2(ZNF469):c.4388C>T (p.Thr1463Met) rs375045076
NM_001127464.2(ZNF469):c.4395G>A (p.Pro1465=) rs373162171
NM_001127464.2(ZNF469):c.4448_4450delTGC (p.Leu1483del) rs555544144
NM_001127464.2(ZNF469):c.4490G>C (p.Ser1497Thr) rs545662898
NM_001127464.2(ZNF469):c.457C>G (p.Pro153Ala) rs532620482
NM_001127464.2(ZNF469):c.4694C>T (p.Ser1565Leu) rs768864900
NM_001127464.2(ZNF469):c.470G>A (p.Gly157Glu) rs781096189
NM_001127464.2(ZNF469):c.4745G>A (p.Arg1582His) rs567038987
NM_001127464.2(ZNF469):c.4765C>T (p.Pro1589Ser) rs557351664
NM_001127464.2(ZNF469):c.4800G>A (p.Thr1600=) rs141666432
NM_001127464.2(ZNF469):c.4808G>A (p.Gly1603Glu) rs755244502
NM_001127464.2(ZNF469):c.4823A>G (p.His1608Arg) rs557636016
NM_001127464.2(ZNF469):c.4825C>T (p.Arg1609Trp) rs575820215
NM_001127464.2(ZNF469):c.4842G>A (p.Ser1614=) rs117310292
NM_001127464.2(ZNF469):c.4868A>G (p.Gln1623Arg) rs773925755
NM_001127464.2(ZNF469):c.4926C>A (p.Ala1642=) rs766852564
NM_001127464.2(ZNF469):c.5003C>T (p.Pro1668Leu) rs115487796
NM_001127464.2(ZNF469):c.5061G>A (p.Arg1687=) rs577775261
NM_001127464.2(ZNF469):c.5066C>G (p.Pro1689Arg) rs544832628
NM_001127464.2(ZNF469):c.5078G>T (p.Cys1693Phe) rs568197988
NM_001127464.2(ZNF469):c.5256C>G (p.Pro1752=) rs184374078
NM_001127464.2(ZNF469):c.5404G>T (p.Ala1802Ser) rs778548266
NM_001127464.2(ZNF469):c.5464C>A (p.Pro1822Thr) rs199932922
NM_001127464.2(ZNF469):c.5493G>A (p.Pro1831=) rs764487066
NM_001127464.2(ZNF469):c.5577C>G (p.Thr1859=) rs9931465
NM_001127464.2(ZNF469):c.5613C>T (p.Ser1871=) rs111986360
NM_001127464.2(ZNF469):c.5623C>T (p.Arg1875Cys) rs757657013
NM_001127464.2(ZNF469):c.5772T>C (p.Cys1924=) rs186652137
NM_001127464.2(ZNF469):c.5778C>G (p.Pro1926=) rs201666199
NM_001127464.2(ZNF469):c.5828C>T (p.Ala1943Val) rs886052406
NM_001127464.2(ZNF469):c.5830G>A (p.Gly1944Arg) rs766410344
NM_001127464.2(ZNF469):c.5945G>A (p.Gly1982Glu) rs886052407
NM_001127464.2(ZNF469):c.5948G>A (p.Gly1983Asp) rs79155191
NM_001127464.2(ZNF469):c.5991G>A (p.Ala1997=) rs373300146
NM_001127464.2(ZNF469):c.609C>A (p.Pro203=) rs886052390
NM_001127464.2(ZNF469):c.6175G>A (p.Ala2059Thr) rs144986357
NM_001127464.2(ZNF469):c.627G>T (p.Gly209=) rs113227277
NM_001127464.2(ZNF469):c.62G>A (p.Arg21His) rs145178398
NM_001127464.2(ZNF469):c.6304C>G (p.Leu2102Val) rs562559927
NM_001127464.2(ZNF469):c.6378G>A (p.Pro2126=) rs61472141
NM_001127464.2(ZNF469):c.6386G>A (p.Arg2129Lys) rs13334190
NM_001127464.2(ZNF469):c.6396C>T (p.Pro2132=) rs370190101
NM_001127464.2(ZNF469):c.6468G>T (p.Thr2156=) rs12919507
NM_001127464.2(ZNF469):c.6581T>C (p.Leu2194Pro) rs78213929
NM_001127464.2(ZNF469):c.6693G>A (p.Glu2231=) rs76442115
NM_001127464.2(ZNF469):c.6695A>G (p.Lys2232Arg) rs75136873
NM_001127464.2(ZNF469):c.6762C>T (p.Ala2254=) rs748097865
NM_001127464.2(ZNF469):c.6860C>G (p.Pro2287Arg) rs77490207
NM_001127464.2(ZNF469):c.6978G>A (p.Thr2326=) rs866760637
NM_001127464.2(ZNF469):c.6995C>T (p.Pro2332Leu) rs76389306
NM_001127464.2(ZNF469):c.699C>T (p.Asp233=) rs886052391
NM_001127464.2(ZNF469):c.7027G>A (p.Gly2343Arg) rs886052408
NM_001127464.2(ZNF469):c.7032C>G (p.Thr2344=) rs762487170
NM_001127464.2(ZNF469):c.7072G>C (p.Gly2358Arg) rs12598474
NM_001127464.2(ZNF469):c.7075C>T (p.Arg2359Cys) rs886052409
NM_001127464.2(ZNF469):c.7111C>T (p.Pro2371Ser) rs759032227
NM_001127464.2(ZNF469):c.7181C>A (p.Ser2394Tyr) rs201540905
NM_001127464.2(ZNF469):c.7183C>A (p.Pro2395Thr) rs199727372
NM_001127464.2(ZNF469):c.725G>T (p.Ser242Ile) rs536586591
NM_001127464.2(ZNF469):c.7413G>A (p.Pro2471=) rs768288160
NM_001127464.2(ZNF469):c.7424C>A (p.Ala2475Glu) rs141218390
NM_001127464.2(ZNF469):c.7430C>T (p.Pro2477Leu) rs552311966
NM_001127464.2(ZNF469):c.7469C>A (p.Pro2490His) rs201943633
NM_001127464.2(ZNF469):c.7632G>A (p.Gln2544=) rs775513309
NM_001127464.2(ZNF469):c.7636C>T (p.His2546Tyr) rs886052410
NM_001127464.2(ZNF469):c.7721T>C (p.Leu2574Pro) rs150488251
NM_001127464.2(ZNF469):c.7733A>C (p.Gln2578Pro) rs529250336
NM_001127464.2(ZNF469):c.7919T>C (p.Met2640Thr) rs886052411
NM_001127464.2(ZNF469):c.7983G>A (p.Gly2661=) rs116213189
NM_001127464.2(ZNF469):c.7996C>T (p.Arg2666Cys) rs540443650
NM_001127464.2(ZNF469):c.8009T>A (p.Leu2670Gln) rs3812956
NM_001127464.2(ZNF469):c.8028G>C (p.Glu2676Asp) rs773262065
NM_001127464.2(ZNF469):c.8037G>A (p.Ala2679=) rs116696830
NM_001127464.2(ZNF469):c.8128G>A (p.Ala2710Thr) rs3812955
NM_001127464.2(ZNF469):c.81G>A (p.Pro27=) rs534464702
NM_001127464.2(ZNF469):c.8246A>T (p.Asp2749Val) rs3812954
NM_001127464.2(ZNF469):c.8260C>T (p.His2754Tyr) rs553227769
NM_001127464.2(ZNF469):c.8303C>G (p.Pro2768Arg) rs886052412
NM_001127464.2(ZNF469):c.8346G>A (p.Ala2782=) rs574024256
NM_001127464.2(ZNF469):c.8419G>C (p.Glu2807Gln) rs200153921
NM_001127464.2(ZNF469):c.8520C>T (p.Arg2840=) rs3812953
NM_001127464.2(ZNF469):c.8541G>A (p.Pro2847=) rs138771545
NM_001127464.2(ZNF469):c.8543A>G (p.His2848Arg) rs1983014
NM_001127464.2(ZNF469):c.8558G>A (p.Arg2853His) rs142753357
NM_001127464.2(ZNF469):c.8558G>T (p.Arg2853Leu) rs142753357
NM_001127464.2(ZNF469):c.8570C>T (p.Pro2857Leu) rs886052413
NM_001127464.2(ZNF469):c.8621C>T (p.Thr2874Met) rs536725615
NM_001127464.2(ZNF469):c.869C>T (p.Ala290Val) rs117501524
NM_001127464.2(ZNF469):c.8701G>A (p.Glu2901Lys) rs578166707
NM_001127464.2(ZNF469):c.8704G>T (p.Asp2902Tyr) rs76792613
NM_001127464.2(ZNF469):c.8717T>A (p.Leu2906Gln) rs764531239
NM_001127464.2(ZNF469):c.8722G>A (p.Glu2908Lys) rs762301873
NM_001127464.2(ZNF469):c.8772C>T (p.Asp2924=) rs766581620
NM_001127464.2(ZNF469):c.8785G>A (p.Gly2929Ser) rs573884006
NM_001127464.2(ZNF469):c.8890A>C (p.Met2964Leu) rs886052414
NM_001127464.2(ZNF469):c.8920A>C (p.Met2974Leu) rs141776185
NM_001127464.2(ZNF469):c.8940C>T (p.Asp2980=) rs886052415
NM_001127464.2(ZNF469):c.9090G>A (p.Leu3030=) rs886052416
NM_001127464.2(ZNF469):c.9195G>T (p.Glu3065Asp) rs886052417
NM_001127464.2(ZNF469):c.9237G>A (p.Pro3079=) rs543846859
NM_001127464.2(ZNF469):c.9284G>A (p.Arg3095His) rs536601676
NM_001127464.2(ZNF469):c.9289C>T (p.Arg3097Cys) rs543370102
NM_001127464.2(ZNF469):c.942G>A (p.Pro314=) rs767588443
NM_001127464.2(ZNF469):c.9471C>G (p.Ala3157=) rs273585636
NM_001127464.2(ZNF469):c.951C>T (p.Ala317=) rs561239255
NM_001127464.2(ZNF469):c.952G>A (p.Val318Met) rs139066376
NM_001127464.2(ZNF469):c.9592C>A (p.His3198Asn) rs867530230
NM_001127464.2(ZNF469):c.9612G>A (p.Thr3204=) rs573582117
NM_001127464.2(ZNF469):c.9621G>A (p.Ala3207=) rs757816736
NM_001127464.2(ZNF469):c.9700G>T (p.Ala3234Ser) rs886052418
NM_001127464.2(ZNF469):c.9810C>T (p.Asp3270=) rs551298094
NM_001127464.2(ZNF469):c.9837G>A (p.Thr3279=) rs533072680
NM_001127464.2(ZNF469):c.98C>T (p.Pro33Leu) rs752770883
NM_001128225.2(SLC39A13):c.221G>A (p.Gly74Asp) rs121434363
NM_001129.4(AEBP1):c.1320_1326delGACCCAG (p.Arg440Serfs) rs1554327284
NM_001129.4(AEBP1):c.1470delC (p.Asn490Lysfs) rs1554327449
NM_001129.4(AEBP1):c.1630+1G>A rs369016031
NM_001129.4(AEBP1):c.917dup (p.Tyr306Terfs) rs1443187318
NM_001129.5(AEBP1):c.1743C>A (p.Cys581Ter) rs777647845
NM_001278074.1(COL5A1):c.2988dup (p.Gly997Argfs) rs764693725
NM_001278074.1(COL5A1):c.3206dup (p.Ala1070Serfs) rs1554803622
NM_001278074.1(COL5A1):c.3583-6dup rs773032514
NM_001316320.1(PLOD1):c.493C>T (p.Arg165Trp) rs771186398
NM_001322939.1(DSE):c.1625G>A (p.Gly542Glu)
NM_001367624.1(ZNF469):c.5114C>T (p.Thr1705Ile)
NM_001456.3(FLNA):c.1029C>T (p.Ser343=) rs199853721
NM_001456.3(FLNA):c.1030G>A (p.Val344Ile) rs782007408
NM_001456.3(FLNA):c.1120G>A (p.Val374Met) rs201681328
NM_001456.3(FLNA):c.1191C>T (p.Ile397=) rs200048692
NM_001456.3(FLNA):c.1223C>T (p.Thr408Met) rs781827791
NM_001456.3(FLNA):c.1239G>A (p.Thr413=) rs200278701
NM_001456.3(FLNA):c.125A>G (p.Lys42Arg)
NM_001456.3(FLNA):c.1267C>T (p.Pro423Ser) rs863223643
NM_001456.3(FLNA):c.1291G>C (p.Glu431Gln) rs781915319
NM_001456.3(FLNA):c.1309C>T (p.Arg437Trp)
NM_001456.3(FLNA):c.1319G>C (p.Ser440Thr)
NM_001456.3(FLNA):c.1356C>T (p.Gly452=) rs782437864
NM_001456.3(FLNA):c.1365C>A (p.Thr455=) rs782726997
NM_001456.3(FLNA):c.1372G>A (p.Val458Ile) rs782791907
NM_001456.3(FLNA):c.1406C>T (p.Pro469Leu) rs782434140
NM_001456.3(FLNA):c.1438C>T (p.Pro480Ser)
NM_001456.3(FLNA):c.1439C>T (p.Pro480Leu) rs782168634
NM_001456.3(FLNA):c.1450C>T (p.Arg484Trp) rs61730768
NM_001456.3(FLNA):c.1451G>A (p.Arg484Gln) rs782371735
NM_001456.3(FLNA):c.1479G>C (p.Lys493Asn) rs1557179001
NM_001456.3(FLNA):c.1542G>C (p.Glu514Asp) rs782765195
NM_001456.3(FLNA):c.1579C>T (p.Arg527Cys) rs202029322
NM_001456.3(FLNA):c.1581C>T (p.Arg527=) rs782684339
NM_001456.3(FLNA):c.1582G>A (p.Val528Met) rs143873938
NM_001456.3(FLNA):c.1582G>C (p.Val528Leu) rs143873938
NM_001456.3(FLNA):c.1587G>A (p.Lys529=) rs782615607
NM_001456.3(FLNA):c.1603G>A (p.Asp535Asn) rs782321294
NM_001456.3(FLNA):c.1613A>G (p.Tyr538Cys) rs1557178932
NM_001456.3(FLNA):c.1621G>A (p.Glu541Lys) rs743546
NM_001456.3(FLNA):c.168C>G (p.His56Gln)
NM_001456.3(FLNA):c.1691+7C>A rs199565118
NM_001456.3(FLNA):c.1693C>T (p.Pro565Ser)
NM_001456.3(FLNA):c.1716C>T (p.Thr572=) rs201550267
NM_001456.3(FLNA):c.1761G>A (p.Glu587=) rs377261686
NM_001456.3(FLNA):c.1767C>T (p.Gly589=) rs371909600
NM_001456.3(FLNA):c.1813G>A (p.Asp605Asn) rs201093148
NM_001456.3(FLNA):c.1815C>T (p.Asp605=) rs781821848
NM_001456.3(FLNA):c.1824G>A (p.Thr608=) rs782114616
NM_001456.3(FLNA):c.1828+3A>G rs368041880
NM_001456.3(FLNA):c.1875C>T (p.Asp625=) rs200660642
NM_001456.3(FLNA):c.1900C>G (p.Arg634Gly) rs111516546
NM_001456.3(FLNA):c.1901G>A (p.Arg634His) rs782038837
NM_001456.3(FLNA):c.1902C>T (p.Arg634=) rs782136908
NM_001456.3(FLNA):c.1938C>T (p.His646=) rs369037499
NM_001456.3(FLNA):c.1958A>G (p.Asp653Gly)
NM_001456.3(FLNA):c.1964G>A (p.Arg655His) rs782563602
NM_001456.3(FLNA):c.1968C>T (p.Leu656=) rs73638274
NM_001456.3(FLNA):c.196A>T (p.Asn66Tyr)
NM_001456.3(FLNA):c.1997C>T (p.Ala666Val) rs374295965
NM_001456.3(FLNA):c.1998G>A (p.Ala666=) rs34510365
NM_001456.3(FLNA):c.19C>T (p.Arg7Trp) rs941318584
NM_001456.3(FLNA):c.2019C>T (p.Asp673=) rs1557178734
NM_001456.3(FLNA):c.2027A>G (p.Lys676Arg) rs781798819
NM_001456.3(FLNA):c.2103C>T (p.His701=) rs200227077
NM_001456.3(FLNA):c.2178C>T (p.Asn726=) rs371501734
NM_001456.3(FLNA):c.2205C>T (p.Tyr735=) rs782551055
NM_001456.3(FLNA):c.2254G>A (p.Val752Ile) rs1297013254
NM_001456.3(FLNA):c.2254_2268delGTCAGCATCCCCAACinsCCCTTCAGGGTG (p.Val752_Asn756delinsProPheArgVal) rs863223631
NM_001456.3(FLNA):c.2310C>T (p.Asn770=) rs202109957
NM_001456.3(FLNA):c.2313G>A (p.Lys771=) rs782741007
NM_001456.3(FLNA):c.2319A>T (p.Lys773Asn) rs1060500719
NM_001456.3(FLNA):c.2323T>C (p.Tyr775His) rs371839875
NM_001456.3(FLNA):c.2389G>A (p.Ala797Thr) rs201073998
NM_001456.3(FLNA):c.2405-4G>A rs368187218
NM_001456.3(FLNA):c.2410G>A (p.Val804Ile) rs374130804
NM_001456.3(FLNA):c.2433C>T (p.Ala811=) rs35986650
NM_001456.3(FLNA):c.2449C>T (p.Pro817Ser) rs200053635
NM_001456.3(FLNA):c.2466C>T (p.Ile822=) rs878854461
NM_001456.3(FLNA):c.2483G>A (p.Arg828His)
NM_001456.3(FLNA):c.2483G>C (p.Arg828Pro) rs1347740802
NM_001456.3(FLNA):c.2485A>G (p.Asn829Asp) rs1557178269
NM_001456.3(FLNA):c.2492A>G (p.Asn831Ser) rs781846227
NM_001456.3(FLNA):c.2505G>A (p.Thr835=) rs782013801
NM_001456.3(FLNA):c.2516C>T (p.Thr839Met) rs201603843
NM_001456.3(FLNA):c.2565+1G>A
NM_001456.3(FLNA):c.2584A>G (p.Ile862Val) rs1557178202
NM_001456.3(FLNA):c.2613C>T (p.Asp871=) rs188212919
NM_001456.3(FLNA):c.2706T>C (p.Ala902=) rs781842762
NM_001456.3(FLNA):c.2725G>A (p.Val909Ile) rs199911951
NM_001456.3(FLNA):c.2744C>A (p.Thr915Asn) rs782045915
NM_001456.3(FLNA):c.2791A>G (p.Asn931Asp) rs190437842
NM_001456.3(FLNA):c.2792A>T (p.Asn931Ile) rs1557178134
NM_001456.3(FLNA):c.2813C>T (p.Thr938Met) rs782180774
NM_001456.3(FLNA):c.2826+4G>A rs1037180469
NM_001456.3(FLNA):c.2831C>T (p.Pro944Leu)
NM_001456.3(FLNA):c.2839G>A (p.Val947Ile)
NM_001456.3(FLNA):c.2845G>A (p.Val949Ile) rs201656372
NM_001456.3(FLNA):c.2965C>A (p.Gln989Lys) rs1557178045
NM_001456.3(FLNA):c.2974A>G (p.Thr992Ala)
NM_001456.3(FLNA):c.2982A>G (p.Lys994=) rs782056982
NM_001456.3(FLNA):c.3036G>A (p.Ser1012=) rs373908435
NM_001456.3(FLNA):c.3045G>A (p.Ala1015=) rs370868704
NM_001456.3(FLNA):c.3112G>A (p.Glu1038Lys) rs1187268269
NM_001456.3(FLNA):c.3147C>T (p.Gly1049=) rs398123615
NM_001456.3(FLNA):c.3225G>A (p.Pro1075=) rs782292169
NM_001456.3(FLNA):c.3246G>A (p.Ala1082=) rs373036085
NM_001456.3(FLNA):c.3255C>T (p.Pro1085=) rs782231907
NM_001456.3(FLNA):c.3260G>A (p.Arg1087His) rs369668866
NM_001456.3(FLNA):c.3270C>T (p.Ile1090=) rs79391751
NM_001456.3(FLNA):c.3285C>T (p.Ala1095=) rs199530601
NM_001456.3(FLNA):c.3286G>A (p.Gly1096Ser) rs782149159
NM_001456.3(FLNA):c.3330G>A (p.Ala1110=) rs781917512
NM_001456.3(FLNA):c.333C>T (p.Leu111=) rs782684723
NM_001456.3(FLNA):c.3379G>A (p.Val1127Met) rs398123617
NM_001456.3(FLNA):c.338T>C (p.Phe113Ser) rs1557180178
NM_001456.3(FLNA):c.3416T>G (p.Leu1139Arg) rs782633080
NM_001456.3(FLNA):c.3420C>T (p.Phe1140=) rs782219300
NM_001456.3(FLNA):c.3421G>A (p.Ala1141Thr) rs201908251
NM_001456.3(FLNA):c.3429C>G (p.Thr1143=) rs183899917
NM_001456.3(FLNA):c.3455C>T (p.Ala1152Val) rs1557177751
NM_001456.3(FLNA):c.34G>T (p.Ala12Ser)
NM_001456.3(FLNA):c.3504C>T (p.Pro1168=) rs368009936
NM_001456.3(FLNA):c.3522C>T (p.Thr1174=) rs373625856
NM_001456.3(FLNA):c.3523G>A (p.Ala1175Thr) rs370202395
NM_001456.3(FLNA):c.3529G>T (p.Glu1177Ter) rs1557177738
NM_001456.3(FLNA):c.3597G>A (p.Ser1199=) rs200258756
NM_001456.3(FLNA):c.3602C>T (p.Ala1201Val)
NM_001456.3(FLNA):c.3611C>T (p.Pro1204Leu) rs376726422
NM_001456.3(FLNA):c.3612G>A (p.Pro1204=) rs782273962
NM_001456.3(FLNA):c.3647C>T (p.Thr1216Met)
NM_001456.3(FLNA):c.3668C>T (p.Pro1223Leu) rs1060500716
NM_001456.3(FLNA):c.3670C>T (p.Leu1224Phe) rs1557177690
NM_001456.3(FLNA):c.3678C>T (p.Pro1226=) rs377579695
NM_001456.3(FLNA):c.3708C>T (p.Gly1236=) rs200363918
NM_001456.3(FLNA):c.373+10G>A rs368292402
NM_001456.3(FLNA):c.3756G>A (p.Ala1252=) rs186619828
NM_001456.3(FLNA):c.3768C>T (p.Ser1256=) rs782528841
NM_001456.3(FLNA):c.3769G>A (p.Gly1257Ser) rs781896277
NM_001456.3(FLNA):c.3814delC (p.Arg1272Valfs) rs1557177636
NM_001456.3(FLNA):c.3861G>T (p.Gln1287His) rs1557177627
NM_001456.3(FLNA):c.3864C>T (p.Thr1288=) rs374068639
NM_001456.3(FLNA):c.3865G>T (p.Gly1289Ter)
NM_001456.3(FLNA):c.3876C>T (p.His1292=) rs199917719
NM_001456.3(FLNA):c.3909C>T (p.Asn1303=) rs1060504018
NM_001456.3(FLNA):c.3915G>A (p.Thr1305=) rs201488545
NM_001456.3(FLNA):c.3939C>T (p.Gly1313=) rs374178910
NM_001456.3(FLNA):c.3940G>A (p.Asp1314Asn)
NM_001456.3(FLNA):c.3979+5G>A
NM_001456.3(FLNA):c.3985C>T (p.His1329Tyr) rs782746289
NM_001456.3(FLNA):c.3995A>G (p.Asp1332Gly) rs200615848
NM_001456.3(FLNA):c.4017C>T (p.Pro1339=) rs781934382
NM_001456.3(FLNA):c.4018G>A (p.Val1340Met)
NM_001456.3(FLNA):c.4075C>T (p.Arg1359Cys) rs369768801
NM_001456.3(FLNA):c.4082A>G (p.His1361Arg) rs782774182
NM_001456.3(FLNA):c.4106C>T (p.Thr1369Ile) rs376774130
NM_001456.3(FLNA):c.410T>A (p.Ile137Asn)
NM_001456.3(FLNA):c.4143-1G>T rs1557177485
NM_001456.3(FLNA):c.4155G>T (p.Thr1385=) rs782110572
NM_001456.3(FLNA):c.4179G>A (p.Glu1393=) rs182074603
NM_001456.3(FLNA):c.4233G>A (p.Ser1411=) rs34439033
NM_001456.3(FLNA):c.423C>T (p.Ile141=) rs782198156
NM_001456.3(FLNA):c.4263C>T (p.Thr1421=) rs398123618
NM_001456.3(FLNA):c.4344G>A (p.Ala1448=) rs782529594
NM_001456.3(FLNA):c.4368C>T (p.Pro1456=) rs782080545
NM_001456.3(FLNA):c.4420G>A (p.Asp1474Asn) rs782129236
NM_001456.3(FLNA):c.4424C>T (p.Thr1475Ile) rs1557177388
NM_001456.3(FLNA):c.4444C>T (p.Pro1482Ser) rs782349011
NM_001456.3(FLNA):c.444C>T (p.Tyr148=) rs935727195
NM_001456.3(FLNA):c.4452G>C (p.Gln1484His)
NM_001456.3(FLNA):c.4475-4C>T rs199652065
NM_001456.3(FLNA):c.4494C>T (p.Asp1498=) rs183948518
NM_001456.3(FLNA):c.4499T>C (p.Val1500Ala)
NM_001456.3(FLNA):c.4517C>T (p.Thr1506Ile) rs797045579
NM_001456.3(FLNA):c.4551G>C (p.Gly1517=) rs370476531
NM_001456.3(FLNA):c.4594C>T (p.Arg1532Trp) rs782563345
NM_001456.3(FLNA):c.4596_4598+5del rs1557177279
NM_001456.3(FLNA):c.4598+8G>C rs112379782
NM_001456.3(FLNA):c.464G>C (p.Trp155Ser) rs1557179668
NM_001456.3(FLNA):c.4659C>T (p.Pro1553=) rs375163471
NM_001456.3(FLNA):c.4696G>A (p.Val1566Met)
NM_001456.3(FLNA):c.4721_4732delACGCCGGGGAGG (p.Asp1574_Glu1577del) rs1557177229
NM_001456.3(FLNA):c.4737G>C (p.Leu1579=) rs201904661
NM_001456.3(FLNA):c.4755+5G>A rs199803218
NM_001456.3(FLNA):c.4777_4778dup (p.Thr1594Argfs) rs786200973
NM_001456.3(FLNA):c.4825G>A (p.Val1609Met)
NM_001456.3(FLNA):c.4840_4852delGGTCGCTACACCA (p.Gly1614Serfs) rs1557177086
NM_001456.3(FLNA):c.487G>A (p.Ala163Thr)
NM_001456.3(FLNA):c.4908C>T (p.Ala1636=) rs367979917
NM_001456.3(FLNA):c.4917C>T (p.Thr1639=) rs370608721
NM_001456.3(FLNA):c.4945+3G>A rs372673802
NM_001456.3(FLNA):c.5009C>T (p.Ala1670Val)
NM_001456.3(FLNA):c.5035A>G (p.Thr1679Ala)
NM_001456.3(FLNA):c.5074G>A (p.Val1692Met)
NM_001456.3(FLNA):c.5100C>T (p.Phe1700=) rs368399445
NM_001456.3(FLNA):c.5136C>T (p.Tyr1712=) rs782152127
NM_001456.3(FLNA):c.5169G>A (p.Val1723=) rs201458268
NM_001456.3(FLNA):c.5194-4G>A rs370196495
NM_001456.3(FLNA):c.5227C>T (p.Pro1743Ser) rs56102764
NM_001456.3(FLNA):c.5289+4C>T rs377330443
NM_001456.3(FLNA):c.5318A>G (p.Asn1773Ser) rs373089783
NM_001456.3(FLNA):c.537G>C (p.Lys179Asn) rs1557179655
NM_001456.3(FLNA):c.543G>C (p.Pro181=) rs201486643
NM_001456.3(FLNA):c.5451C>T (p.Asp1817=) rs1057521451
NM_001456.3(FLNA):c.546G>C (p.Gln182His) rs1557179648
NM_001456.3(FLNA):c.5567A>G (p.Asn1856Ser) rs782095418
NM_001456.3(FLNA):c.5586C>T (p.Ala1862=) rs782040591
NM_001456.3(FLNA):c.5592G>C (p.Gly1864=) rs782204300
NM_001456.3(FLNA):c.5619delC (p.Asn1873Lysfs)
NM_001456.3(FLNA):c.5634C>T (p.Phe1878=) rs182894587
NM_001456.3(FLNA):c.5662+1G>C rs1557176315
NM_001456.3(FLNA):c.5686G>A (p.Gly1896Ser) rs782549964
NM_001456.3(FLNA):c.569G>A (p.Arg190Gln) rs782447567
NM_001456.3(FLNA):c.5762C>T (p.Pro1921Leu)
NM_001456.3(FLNA):c.5763G>A (p.Pro1921=) rs376974488
NM_001456.3(FLNA):c.5790C>T (p.Tyr1930=) rs140084263
NM_001456.3(FLNA):c.5837-9C>T rs782153045
NM_001456.3(FLNA):c.5887A>T (p.Ile1963Phe) rs190712778
NM_001456.3(FLNA):c.5927C>T (p.Thr1976Met) rs782639698
NM_001456.3(FLNA):c.5928G>A (p.Thr1976=) rs782618234
NM_001456.3(FLNA):c.5943G>A (p.Pro1981=) rs372351673
NM_001456.3(FLNA):c.5948C>T (p.Ser1983Leu) rs187029309
NM_001456.3(FLNA):c.5954G>C (p.Arg1985Pro)
NM_001456.3(FLNA):c.5964_5965delCT (p.Cys1989Phefs) rs1060500718
NM_001456.3(FLNA):c.5999-10C>G rs72616474
NM_001456.3(FLNA):c.6023C>T (p.Thr2008Met) rs781946802
NM_001456.3(FLNA):c.6083C>T (p.Pro2028Leu) rs1557176131
NM_001456.3(FLNA):c.6193C>T (p.Arg2065Cys) rs782069230
NM_001456.3(FLNA):c.6195C>T (p.Arg2065=) rs782365685
NM_001456.3(FLNA):c.6196G>A (p.Asp2066Asn) rs371611462
NM_001456.3(FLNA):c.622+10C>T rs781889769
NM_001456.3(FLNA):c.6244G>C (p.Val2082Leu) rs968230475
NM_001456.3(FLNA):c.6245T>C (p.Val2082Ala)
NM_001456.3(FLNA):c.6283A>G (p.Arg2095Gly) rs370277156
NM_001456.3(FLNA):c.6296G>C (p.Cys2099Ser) rs1557176052
NM_001456.3(FLNA):c.6297C>T (p.Cys2099=) rs1060504017
NM_001456.3(FLNA):c.62_64dupTCG (p.Val21_Asp22insVal) rs782721874
NM_001456.3(FLNA):c.6326A>G (p.Asn2109Ser) rs375205247
NM_001456.3(FLNA):c.6352C>T (p.Pro2118Ser) rs782400832
NM_001456.3(FLNA):c.6370G>A (p.Val2124Met) rs201396725
NM_001456.3(FLNA):c.6384C>A (p.Gly2128=) rs1004981975
NM_001456.3(FLNA):c.6391C>T (p.Arg2131Trp) rs782761341
NM_001456.3(FLNA):c.6479-2A>C rs112363874
NM_001456.3(FLNA):c.6479-8C>T rs1288120261
NM_001456.3(FLNA):c.6479-9A>G rs781919390
NM_001456.3(FLNA):c.6516C>T (p.Ser2172=) rs781992483
NM_001456.3(FLNA):c.6540C>G (p.Ala2180=) rs782053327
NM_001456.3(FLNA):c.6541G>A (p.Glu2181Lys)
NM_001456.3(FLNA):c.65A>G (p.Asp22Gly) rs782598729
NM_001456.3(FLNA):c.6618G>C (p.Val2206=) rs1064822
NM_001456.3(FLNA):c.6695A>G (p.Lys2232Arg) rs797045581
NM_001456.3(FLNA):c.6700C>T (p.Arg2234Ter) rs1060500717
NM_001456.3(FLNA):c.6701G>A (p.Arg2234Gln) rs781984274
NM_001456.3(FLNA):c.6704C>G (p.Ala2235Gly) rs953454766
NM_001456.3(FLNA):c.6748G>T (p.Glu2250Ter)
NM_001456.3(FLNA):c.6752T>C (p.Phe2251Ser)
NM_001456.3(FLNA):c.676C>T (p.Arg226Ter)
NM_001456.3(FLNA):c.6839G>A (p.Arg2280His) rs782275601
NM_001456.3(FLNA):c.6851C>T (p.Ser2284Phe) rs1557175878
NM_001456.3(FLNA):c.6867T>C (p.Tyr2289=) rs1557175875
NM_001456.3(FLNA):c.6870G>C (p.Val2290=) rs878854462
NM_001456.3(FLNA):c.6927C>T (p.Pro2309=) rs782356784
NM_001456.3(FLNA):c.6949G>A (p.Val2317Met) rs1557175818
NM_001456.3(FLNA):c.6960G>A (p.Pro2320=) rs374786760
NM_001456.3(FLNA):c.6969C>T (p.Asp2323=) rs201153928
NM_001456.3(FLNA):c.6999+10C>T rs782777494
NM_001456.3(FLNA):c.7019A>G (p.Asn2340Ser) rs1557175657
NM_001456.3(FLNA):c.7031C>T (p.Ser2344Phe) rs1557175646
NM_001456.3(FLNA):c.7035T>G (p.Phe2345Leu) rs864622713
NM_001456.3(FLNA):c.7068C>A (p.Ile2356=) rs782591917
NM_001456.3(FLNA):c.7133A>G (p.Asp2378Gly)
NM_001456.3(FLNA):c.7140T>C (p.Tyr2380=) rs1557175472
NM_001456.3(FLNA):c.7143T>G (p.Ala2381=) rs782541746
NM_001456.3(FLNA):c.7148G>A (p.Arg2383His) rs727503930
NM_001456.3(FLNA):c.714C>G (p.Ile238Met)
NM_001456.3(FLNA):c.7171G>A (p.Val2391Ile) rs878854463
NM_001456.3(FLNA):c.7181T>C (p.Ile2394Thr) rs202152952
NM_001456.3(FLNA):c.7186G>A (p.Val2396Ile)
NM_001456.3(FLNA):c.7197C>T (p.Asn2399=) rs782129907
NM_001456.3(FLNA):c.7198G>A (p.Gly2400Ser) rs201168500
NM_001456.3(FLNA):c.7200C>T (p.Gly2400=) rs12008807
NM_001456.3(FLNA):c.7235T>C (p.Val2412Ala) rs782289803
NM_001456.3(FLNA):c.7243C>T (p.Pro2415Ser) rs200198847
NM_001456.3(FLNA):c.7251T>C (p.His2417=) rs781857682
NM_001456.3(FLNA):c.7281C>T (p.Tyr2427=) rs782750091
NM_001456.3(FLNA):c.7302T>C (p.Gly2434=) rs1026564714
NM_001456.3(FLNA):c.7309+1G>A rs1557175424
NM_001456.3(FLNA):c.732C>T (p.Pro244=) rs371092631
NM_001456.3(FLNA):c.7338G>A (p.Thr2446=) rs369179210
NM_001456.3(FLNA):c.7341C>G (p.Ser2447Arg) rs199677057
NM_001456.3(FLNA):c.7364C>T (p.Ser2455Leu)
NM_001456.3(FLNA):c.7365G>A (p.Ser2455=) rs373103712
NM_001456.3(FLNA):c.7370C>T (p.Thr2457Ile) rs878854464
NM_001456.3(FLNA):c.7410G>A (p.Glu2470=) rs74667788
NM_001456.3(FLNA):c.7426C>T (p.Arg2476Cys) rs782557713
NM_001456.3(FLNA):c.7439C>A (p.Thr2480Asn) rs909387820
NM_001456.3(FLNA):c.7482C>T (p.Gly2494=) rs200195310
NM_001456.3(FLNA):c.7520A>G (p.Lys2507Arg) rs782442409
NM_001456.3(FLNA):c.7531C>T (p.Pro2511Ser) rs782383611
NM_001456.3(FLNA):c.753C>T (p.Asn251=) rs377507152
NM_001456.3(FLNA):c.7544G>A (p.Ser2515Asn) rs782555930
NM_001456.3(FLNA):c.7572A>G (p.Ser2524=) rs200694807
NM_001456.3(FLNA):c.759C>T (p.Asp253=) rs782701643
NM_001456.3(FLNA):c.7604G>A (p.Cys2535Tyr) rs201762017
NM_001456.3(FLNA):c.7625C>T (p.Pro2542Leu) rs371724771
NM_001456.3(FLNA):c.7631C>T (p.Pro2544Leu) rs1334045176
NM_001456.3(FLNA):c.7636C>A (p.Pro2546Thr) rs1060500720
NM_001456.3(FLNA):c.7662C>T (p.Ala2554=) rs76337075
NM_001456.3(FLNA):c.768T>C (p.Ser256=) rs782357419
NM_001456.3(FLNA):c.7714G>A (p.Val2572Ile) rs377518545
NM_001456.3(FLNA):c.7732+8A>G rs201663443
NM_001456.3(FLNA):c.7755_7756insTTCGGGG (p.Val2586Phefs) rs1557175195
NM_001456.3(FLNA):c.7778G>A (p.Cys2593Tyr) rs1060500721
NM_001456.3(FLNA):c.7793_7796delTGAA (p.Val2598Glyfs) rs1557175175
NM_001456.3(FLNA):c.7798C>T (p.His2600Tyr) rs781993962
NM_001456.3(FLNA):c.77C>T (p.Ala26Val)
NM_001456.3(FLNA):c.7876G>C (p.Asp2626His) rs782341270
NM_001456.3(FLNA):c.7895G>T (p.Ser2632Ile) rs1557175110
NM_001456.3(FLNA):c.7903C>T (p.Arg2635Cys) rs200836471
NM_001456.3(FLNA):c.7908_7910delTGT (p.Val2638del) rs1060500715
NM_001456.3(FLNA):c.826C>T (p.Arg276Trp)
NM_001456.3(FLNA):c.861C>T (p.Tyr287=) rs375503410
NM_001456.3(FLNA):c.869-7C>T rs143311779
NM_001456.3(FLNA):c.882A>G (p.Thr294=) rs184864998
NM_001456.3(FLNA):c.897G>A (p.Lys299=) rs782195984
NM_001456.3(FLNA):c.901C>T (p.Arg301Trp) rs192609440
NM_001456.3(FLNA):c.902G>T (p.Arg301Leu) rs371600068
NM_001456.3(FLNA):c.933T>G (p.Ala311=) rs782592312
NM_001456.3(FLNA):c.93C>T (p.Thr31=) rs1436289913
NM_001456.3(FLNA):c.942A>G (p.Gly314=) rs200763980
NM_001456.3(FLNA):c.959T>G (p.Val320Gly)
NM_001733.6(C1R):c.1073G>T (p.Cys358Phe) rs1057518645
NM_001733.6(C1R):c.1092G>C (p.Trp364Cys) rs1057519578
NM_001733.6(C1R):c.1113C>G (p.Cys371Trp) rs1057519579
NM_001733.6(C1R):c.902G>C (p.Arg301Pro) rs760277934
NM_001733.6(C1R):c.927C>G (p.Cys309Trp) rs769707492
NM_001733.7(C1R):c.1012T>C (p.Cys338Arg) rs1057519577
NM_001733.7(C1R):c.1200_1215del16insTCATGTAATA (p.Arg401_Tyr405delinsHisValIle) rs1057519580
NM_001733.7(C1R):c.1303T>C (p.Trp435Arg) rs1060499554
NM_001733.7(C1R):c.149_150delTCinsAT (p.Val50Asp) rs1057519025
NM_001733.7(C1R):c.336G>C (p.Met112Ile)
NM_001733.7(C1R):c.869A>G (p.Asp290Gly) rs1057518643
NM_001733.7(C1R):c.890G>A (p.Gly297Asp) rs1057519026
NM_001733.7(C1R):c.899T>C (p.Leu300Pro) rs1057515579
NM_001733.7(C1R):c.905A>G (p.Tyr302Cys) rs1057519576
NM_001733.7(C1R):c.917_927delTCATCAAGTGCinsGGACA (p.Ile306_Cys309delinsArgThr) rs1057518646
NM_001734.3(C1S):c.514G>A (p.Gly172Arg)
NM_001734.3(C1S):c.880T>C (p.Cys294Arg) rs886040975
NM_001734.3(C1S):c.943G>A (p.Asp315Asn)
NM_001999.3(FBN2):c.2065_2066delGCinsAA (p.Ala689Asn) rs869025430
NM_004612.4(TGFBR1):c.575G>A (p.Gly192Asp)
NM_005120.2(MED12):c.5476C>T (p.Pro1826Ser) rs867576281
NM_007255.2(B4GALT7):c.122T>C (p.Leu41Pro)
NM_007255.2(B4GALT7):c.185G>A (p.Arg62Lys)
NM_007255.2(B4GALT7):c.219T>C (p.Arg73=) rs11537644
NM_007255.2(B4GALT7):c.277C>T (p.His93Tyr) rs142476892
NM_007255.2(B4GALT7):c.277dupC (p.His93Profs) rs879255634
NM_007255.2(B4GALT7):c.38G>A (p.Trp13Ter) rs200503833
NM_007255.2(B4GALT7):c.411C>T (p.Phe137=) rs142951817
NM_007255.2(B4GALT7):c.421C>T (p.Arg141Trp) rs187063864
NM_007255.2(B4GALT7):c.557C>A (p.Ala186Asp) rs121917817
NM_007255.2(B4GALT7):c.617T>C (p.Leu206Pro) rs121917818
NM_007255.2(B4GALT7):c.641G>A (p.Cys214Tyr) rs753594601
NM_007255.2(B4GALT7):c.687C>T (p.Asp229=) rs756942664
NM_007255.2(B4GALT7):c.777T>C (p.His259=) rs729459
NM_007255.3(B4GALT7):c.808C>T (p.Arg270Cys) rs28937869
NM_013352.3(DSE):c.1897G>A (p.Val633Met) rs550208733
NM_013352.3(DSE):c.1926C>T (p.Asn642=) rs560644
NM_013352.3(DSE):c.2005A>G (p.Ile669Val) rs145999978
NM_013352.3(DSE):c.2619_2621delGGG (p.Gly874del) rs111252008
NM_013352.3(DSE):c.799A>G (p.Arg267Gly) rs1554227382
NM_013352.3(DSE):c.803C>T (p.Ser268Leu) rs398122361
NM_014244.4(ADAMTS2):c.*1247C>T rs77506744
NM_014244.4(ADAMTS2):c.*1361A>G rs142875628
NM_014244.4(ADAMTS2):c.*1437_*1438delGG rs375426260
NM_014244.4(ADAMTS2):c.*1446dupG rs151062906
NM_014244.4(ADAMTS2):c.*1468A>G rs2059776
NM_014244.4(ADAMTS2):c.*1486C>A rs1863918
NM_014244.4(ADAMTS2):c.*1573A>C rs560216364
NM_014244.4(ADAMTS2):c.*1579_*1585delTTCTTAA rs539443462
NM_014244.4(ADAMTS2):c.*1586A>G rs888760
NM_014244.4(ADAMTS2):c.*1639C>T rs138971097
NM_014244.4(ADAMTS2):c.*1747A>C rs886060486
NM_014244.4(ADAMTS2):c.*1797C>T rs553329835
NM_014244.4(ADAMTS2):c.*1819G>A rs115989271
NM_014244.4(ADAMTS2):c.*181C>T rs886060489
NM_014244.4(ADAMTS2):c.*183T>C rs184732586
NM_014244.4(ADAMTS2):c.*1919T>G rs574968586
NM_014244.4(ADAMTS2):c.*1941C>T rs886060485
NM_014244.4(ADAMTS2):c.*2064A>G rs759155545
NM_014244.4(ADAMTS2):c.*212A>C rs10479525
NM_014244.4(ADAMTS2):c.*2147C>T rs886060484
NM_014244.4(ADAMTS2):c.*2196T>A rs147985762
NM_014244.4(ADAMTS2):c.*222C>T rs886060488
NM_014244.4(ADAMTS2):c.*2270C>T rs886060483
NM_014244.4(ADAMTS2):c.*2301C>T rs115104288
NM_014244.4(ADAMTS2):c.*2396C>T rs3797615
NM_014244.4(ADAMTS2):c.*2439C>T rs78886769
NM_014244.4(ADAMTS2):c.*2440G>A rs546192004
NM_014244.4(ADAMTS2):c.*2587T>C rs140304884
NM_014244.4(ADAMTS2):c.*2589T>G rs886060482
NM_014244.4(ADAMTS2):c.*2595C>T rs188054405
NM_014244.4(ADAMTS2):c.*2598A>G rs371733200
NM_014244.4(ADAMTS2):c.*2724A>G rs886060481
NM_014244.4(ADAMTS2):c.*2853G>A rs565652629
NM_014244.4(ADAMTS2):c.*2854T>C rs11740156
NM_014244.4(ADAMTS2):c.*288G>A rs59090242
NM_014244.4(ADAMTS2):c.*2918G>A rs60250623
NM_014244.4(ADAMTS2):c.*2926_*2928delAAC rs886060480
NM_014244.4(ADAMTS2):c.*2951G>A rs1044205
NM_014244.4(ADAMTS2):c.*2951_*2952delGTinsAA rs386695575
NM_014244.4(ADAMTS2):c.*2952T>A rs1044209
NM_014244.4(ADAMTS2):c.*353C>T rs886060487
NM_014244.4(ADAMTS2):c.*445G>A rs73806886
NM_014244.4(ADAMTS2):c.*707A>G rs149592164
NM_014244.4(ADAMTS2):c.*816C>T rs116130524
NM_014244.4(ADAMTS2):c.*842T>C rs10038484
NM_014244.4(ADAMTS2):c.*843G>A rs778909760
NM_014244.4(ADAMTS2):c.*847C>T rs78622875
NM_014244.4(ADAMTS2):c.*853G>T rs17666900
NM_014244.4(ADAMTS2):c.*977G>A rs138084603
NM_014244.4(ADAMTS2):c.-13C>A rs886060499
NM_014244.4(ADAMTS2):c.-45T>C rs886060500
NM_014244.4(ADAMTS2):c.1030C>T (p.Arg344Cys)
NM_014244.4(ADAMTS2):c.1069G>A (p.Asp357Asn) rs763890617
NM_014244.4(ADAMTS2):c.110C>T (p.Ala37Val) rs1057524401
NM_014244.4(ADAMTS2):c.1123G>A (p.Gly375Ser) rs886060494
NM_014244.4(ADAMTS2):c.1149C>T (p.Thr383=) rs199664723
NM_014244.4(ADAMTS2):c.1164G>A (p.Pro388=) rs141348218
NM_014244.4(ADAMTS2):c.1194C>T (p.Asp398=) rs2278221
NM_014244.4(ADAMTS2):c.1208C>T (p.Ala403Val) rs756455382
NM_014244.4(ADAMTS2):c.1238+18G>A rs2278222
NM_014244.4(ADAMTS2):c.1254C>T (p.His418=) rs758041605
NM_014244.4(ADAMTS2):c.1278C>T (p.Gly426=) rs746088783
NM_014244.4(ADAMTS2):c.1281C>T (p.Asp427=) rs34424371
NM_014244.4(ADAMTS2):c.1308G>A (p.Ala436=) rs41285549
NM_014244.4(ADAMTS2):c.130_131insCCA (p.Asp44delinsAlaAsn) rs1554100033
NM_014244.4(ADAMTS2):c.1383-3C>A rs1554126056
NM_014244.4(ADAMTS2):c.1427C>T (p.Pro476Leu) rs762123346
NM_014244.4(ADAMTS2):c.1431G>A (p.Ala477=) rs147259971
NM_014244.4(ADAMTS2):c.143G>A (p.Gly48Glu)
NM_014244.4(ADAMTS2):c.1458C>T (p.Tyr486=) rs61757478
NM_014244.4(ADAMTS2):c.1488C>T (p.Phe496=) rs147438064
NM_014244.4(ADAMTS2):c.1629+9G>A rs115550684
NM_014244.4(ADAMTS2):c.1630-18T>C rs2303638
NM_014244.4(ADAMTS2):c.1638dup (p.Lys547Terfs) rs1554125059
NM_014244.4(ADAMTS2):c.1644A>G (p.Gly548=) rs61731454
NM_014244.4(ADAMTS2):c.167G>A (p.Arg56His)
NM_014244.4(ADAMTS2):c.1683C>A (p.Asp561Glu)
NM_014244.4(ADAMTS2):c.1695C>T (p.Gly565=) rs116708837
NM_014244.4(ADAMTS2):c.1723C>T (p.Arg575Cys) rs1212597027
NM_014244.4(ADAMTS2):c.1776C>A (p.His592Gln)
NM_014244.4(ADAMTS2):c.1803G>A (p.Ser601=) rs76754323
NM_014244.4(ADAMTS2):c.1883G>A (p.Arg628His) rs140621260
NM_014244.4(ADAMTS2):c.1903G>A (p.Glu635Lys) rs371099308
NM_014244.4(ADAMTS2):c.1908C>T (p.His636=) rs1862211
NM_014244.4(ADAMTS2):c.1993G>A (p.Gly665Arg) rs35372714
NM_014244.4(ADAMTS2):c.200A>G (p.Gln67Arg) rs745588970
NM_014244.4(ADAMTS2):c.2015G>T (p.Arg672Leu) rs200806292
NM_014244.4(ADAMTS2):c.2028C>T (p.Asp676=) rs1972715
NM_014244.4(ADAMTS2):c.2034G>A (p.Thr678=) rs139943837
NM_014244.4(ADAMTS2):c.2036G>T (p.Arg679Leu) rs144554943
NM_014244.4(ADAMTS2):c.2073C>T (p.Arg691=) rs149391669
NM_014244.4(ADAMTS2):c.2109C>T (p.Ile703=) rs200210415
NM_014244.4(ADAMTS2):c.2110G>A (p.Gly704Ser) rs149708395
NM_014244.4(ADAMTS2):c.2145C>T (p.Cys715=) rs372661052
NM_014244.4(ADAMTS2):c.2172G>C (p.Val724=) rs150587776
NM_014244.4(ADAMTS2):c.220G>A (p.Val74Met) rs2271211
NM_014244.4(ADAMTS2):c.2230A>G (p.Ile744Val) rs201241062
NM_014244.4(ADAMTS2):c.2243C>T (p.Ala748Val) rs780473688
NM_014244.4(ADAMTS2):c.2267T>C (p.Val756Ala) rs141650732
NM_014244.4(ADAMTS2):c.2272G>A (p.Ala758Thr) rs146222244
NM_014244.4(ADAMTS2):c.2276C>A (p.Thr759Asn) rs886060493
NM_014244.4(ADAMTS2):c.2290+15C>T rs764259203
NM_014244.4(ADAMTS2):c.2291-8A>G rs140401199
NM_014244.4(ADAMTS2):c.2292C>T (p.Ala764=) rs188566209
NM_014244.4(ADAMTS2):c.2293G>A (p.Val765Ile) rs777314559
NM_014244.4(ADAMTS2):c.2382G>A (p.Glu794=) rs745407557
NM_014244.4(ADAMTS2):c.2384G>A (p.Trp795Ter) rs137853147
NM_014244.4(ADAMTS2):c.2414C>T (p.Thr805Met) rs370350117
NM_014244.4(ADAMTS2):c.2439C>T (p.His813=) rs141661592
NM_014244.4(ADAMTS2):c.2458-6_2458del7 rs1057517277
NM_014244.4(ADAMTS2):c.2466G>T (p.Pro822=) rs377085746
NM_014244.4(ADAMTS2):c.2469G>A (p.Val823=) rs182103023
NM_014244.4(ADAMTS2):c.2480G>A (p.Arg827Gln) rs35445112
NM_014244.4(ADAMTS2):c.2532C>T (p.Asp844=) rs2303644
NM_014244.4(ADAMTS2):c.2533G>C (p.Asp845His)
NM_014244.4(ADAMTS2):c.258C>G (p.Ala86=) rs886060497
NM_014244.4(ADAMTS2):c.260G>T (p.Arg87Leu)
NM_014244.4(ADAMTS2):c.2648G>A (p.Arg883Gln) rs772028555
NM_014244.4(ADAMTS2):c.2720C>T (p.Ala907Val)
NM_014244.4(ADAMTS2):c.2727C>T (p.Asn909=) rs151261888
NM_014244.4(ADAMTS2):c.2730A>G (p.Pro910=) rs6869261
NM_014244.4(ADAMTS2):c.2750+10C>T rs1045751866
NM_014244.4(ADAMTS2):c.2751-4G>A rs112155474
NM_014244.4(ADAMTS2):c.2795G>A (p.Arg932Gln) rs140022033
NM_014244.4(ADAMTS2):c.2797A>G (p.Thr933Ala) rs886060492
NM_014244.4(ADAMTS2):c.2811G>A (p.Val937=) rs557019144
NM_014244.4(ADAMTS2):c.2817C>T (p.Ser939=) rs201215425
NM_014244.4(ADAMTS2):c.2818G>A (p.Val940Met) rs367796431
NM_014244.4(ADAMTS2):c.2834C>T (p.Pro945Leu) rs200309353
NM_014244.4(ADAMTS2):c.2892C>T (p.Pro964=) rs546361762
NM_014244.4(ADAMTS2):c.2893G>A (p.Glu965Lys) rs144138766
NM_014244.4(ADAMTS2):c.2914C>T (p.Arg972Cys) rs867846785
NM_014244.4(ADAMTS2):c.2959-17C>T rs2303641
NM_014244.4(ADAMTS2):c.2980G>A (p.Gly994Ser) rs142429109
NM_014244.4(ADAMTS2):c.2994G>T (p.Arg998=) rs780314895
NM_014244.4(ADAMTS2):c.3014C>T (p.Ala1005Val) rs79330641
NM_014244.4(ADAMTS2):c.3064A>T (p.Thr1022Ser)
NM_014244.4(ADAMTS2):c.3070delA (p.Arg1024Glyfs) rs1554123627
NM_014244.4(ADAMTS2):c.3078C>A (p.Gly1026=) rs886060491
NM_014244.4(ADAMTS2):c.3078C>T (p.Gly1026=) rs886060491
NM_014244.4(ADAMTS2):c.3088C>T (p.Arg1030Ter)
NM_014244.4(ADAMTS2):c.321T>C (p.Ser107=) rs2271212
NM_014244.4(ADAMTS2):c.3232C>T (p.Arg1078Cys) rs755578308
NM_014244.4(ADAMTS2):c.3279T>C (p.Cys1093=) rs73806887
NM_014244.4(ADAMTS2):c.3342C>T (p.Asn1114=) rs79606317
NM_014244.4(ADAMTS2):c.3343G>A (p.Asp1115Asn) rs200022037
NM_014244.4(ADAMTS2):c.3351C>T (p.Asp1117=) rs777279065
NM_014244.4(ADAMTS2):c.3367C>T (p.Leu1123Phe) rs201343773
NM_014244.4(ADAMTS2):c.3423G>A (p.Glu1141=) rs886060490
NM_014244.4(ADAMTS2):c.3449A>G (p.Asn1150Ser) rs200982805
NM_014244.4(ADAMTS2):c.3480C>A (p.Ala1160=) rs34437036
NM_014244.4(ADAMTS2):c.3503A>G (p.His1168Arg)
NM_014244.4(ADAMTS2):c.3506G>T (p.Gly1169Val) rs117187367
NM_014244.4(ADAMTS2):c.3529C>T (p.Pro1177Ser) rs1054480
NM_014244.4(ADAMTS2):c.3544C>T (p.Arg1182Ter) rs367553801
NM_014244.4(ADAMTS2):c.3545G>A (p.Arg1182Gln) rs140845527
NM_014244.4(ADAMTS2):c.3551C>T (p.Pro1184Leu) rs150989902
NM_014244.4(ADAMTS2):c.3606G>A (p.Met1202Ile)
NM_014244.4(ADAMTS2):c.3608G>A (p.Arg1203Gln)
NM_014244.4(ADAMTS2):c.411G>A (p.Met137Ile)
NM_014244.4(ADAMTS2):c.423C>T (p.Gly141=) rs755099137
NM_014244.4(ADAMTS2):c.447G>A (p.Glu149=) rs886060496
NM_014244.4(ADAMTS2):c.44_45insACT (p.Leu23_Pro24insLeu) rs540605802
NM_014244.4(ADAMTS2):c.534+9G>C rs2271213
NM_014244.4(ADAMTS2):c.547C>T (p.Arg183Trp) rs372225444
NM_014244.4(ADAMTS2):c.580T>C (p.Leu194=) rs1554094148
NM_014244.4(ADAMTS2):c.596C>T (p.Ala199Val) rs76704342
NM_014244.4(ADAMTS2):c.641G>A (p.Arg214Gln) rs763524702
NM_014244.4(ADAMTS2):c.655C>T (p.Pro219Ser) rs146217716
NM_014244.4(ADAMTS2):c.65_70delTGCTGC (p.Leu22_Leu23del)
NM_014244.4(ADAMTS2):c.661C>G (p.Leu221Val) rs756807336
NM_014244.4(ADAMTS2):c.669G>T (p.Gly223=) rs886060495
NM_014244.4(ADAMTS2):c.673C>T (p.Gln225Ter) rs137853146
NM_014244.4(ADAMTS2):c.68T>C (p.Leu23Pro) rs565885690
NM_014244.4(ADAMTS2):c.68_70delTGC (p.Leu23del) rs568040559
NM_014244.4(ADAMTS2):c.68_70dupTGC (p.Leu23_Pro24insLeu) rs568040559
NM_014244.4(ADAMTS2):c.701A>G (p.Asp234Gly) rs59567206
NM_014244.4(ADAMTS2):c.710A>C (p.Asp237Ala) rs202197821
NM_014244.4(ADAMTS2):c.722G>A (p.Arg241His) rs11750821
NM_014244.4(ADAMTS2):c.724G>A (p.Ala242Thr) rs372103269
NM_014244.4(ADAMTS2):c.732C>T (p.Gly244=) rs143069972
NM_014244.4(ADAMTS2):c.733G>A (p.Val245Ile) rs398829
NM_014244.4(ADAMTS2):c.748G>A (p.Ala250Thr) rs143764421
NM_014244.4(ADAMTS2):c.764G>A (p.Arg255Gln) rs117222015
NM_014244.4(ADAMTS2):c.77_79dup (p.Pro26_Leu27insPro) rs763392299
NM_014244.4(ADAMTS2):c.784G>A (p.Ala262Thr) rs376820857
NM_014244.4(ADAMTS2):c.786G>A (p.Ala262=) rs423552
NM_014244.4(ADAMTS2):c.80_88dupTCCTGCCGC (p.Pro29_Pro30insLeuLeuPro) rs775509290
NM_014244.4(ADAMTS2):c.858C>T (p.His286=) rs66565583
NM_014244.4(ADAMTS2):c.859G>A (p.Val287Ile) rs148737005
NM_014244.4(ADAMTS2):c.8C>T (p.Pro3Leu)
NM_014244.4(ADAMTS2):c.935A>G (p.Asn312Ser) rs528367185
NM_014244.4(ADAMTS2):c.936C>T (p.Asn312=) rs35462609
NM_014244.4(ADAMTS2):c.94C>T (p.Pro32Ser) rs547548078
NM_014244.4(ADAMTS2):c.95C>T (p.Pro32Leu) rs886060498
NM_014244.4(ADAMTS2):c.96_101dup (p.Pro34_Ala35insProPro)
NM_014244.4(ADAMTS2):c.991G>A (p.Glu331Lys) rs17667857
NM_014244.4(ADAMTS2):c.99_101delGCC (p.Pro34del) rs770212030
NM_014244.5(ADAMTS2):c.596C>A (p.Ala199Glu)
NM_014244.5(ADAMTS2):c.71C>T (p.Pro24Leu)
NM_014244.5(ADAMTS2):c.78_79insCGC (p.Pro26_Leu27insArg)
NM_014874.3(MFN2):c.-212T>C rs2180183
NM_014874.3(MFN2):c.-367A>G rs2236054
NM_017617.5(NOTCH1):c.695C>A (p.Thr232Asn) rs869025493
NM_017946.3(FKBP14):c.116A>G (p.His39Arg) rs778007431
NM_017946.3(FKBP14):c.119G>A (p.Arg40His) rs1554371032
NM_017946.3(FKBP14):c.143T>A (p.Met48Lys)
NM_017946.3(FKBP14):c.156T>A (p.Tyr52Ter)
NM_017946.3(FKBP14):c.165C>T (p.Tyr55=) rs17150692
NM_017946.3(FKBP14):c.197+5_197+8delGTAA rs747353360
NM_017946.3(FKBP14):c.330C>T (p.Gly110=) rs148034796
NM_017946.3(FKBP14):c.34C>G (p.Leu12Val) rs112905680
NM_017946.3(FKBP14):c.350-8C>T rs368867118
NM_017946.3(FKBP14):c.357T>G (p.Ile119Met) rs202182643
NM_017946.3(FKBP14):c.362dupC (p.Glu122Argfs) rs542489955
NM_017946.3(FKBP14):c.375G>C (p.Leu125=) rs143268242
NM_017946.3(FKBP14):c.42_60del (p.Thr15Terfs)
NM_017946.3(FKBP14):c.467_468delCT (p.Ser156Terfs) rs753775062
NM_017946.3(FKBP14):c.48_50delTTT (p.Leu17del) rs564626031
NM_017946.3(FKBP14):c.495G>A (p.Lys165=) rs142474407
NM_017946.3(FKBP14):c.496_498delAAG (p.Lys166del) rs542254849
NM_017946.3(FKBP14):c.50T>C (p.Leu17Ser) rs1554371125
NM_017946.3(FKBP14):c.512A>C (p.His171Pro) rs147665999
NM_017946.3(FKBP14):c.568_570delAAA (p.Lys190del) rs762279651
NM_017946.3(FKBP14):c.573_575del (p.Glu191del)
NM_017946.3(FKBP14):c.580G>A (p.Asp194Asn)
NM_018699.3(PRDM5):c.*120T>C rs77157999
NM_018699.3(PRDM5):c.*141T>C rs886059040
NM_018699.3(PRDM5):c.*154A>T rs181244989
NM_018699.3(PRDM5):c.*176T>C rs558671397
NM_018699.3(PRDM5):c.-133T>C rs886059046
NM_018699.3(PRDM5):c.-172C>T rs558723351
NM_018699.3(PRDM5):c.-207G>A rs879793284
NM_018699.3(PRDM5):c.-234C>T rs111704622
NM_018699.3(PRDM5):c.-245C>G rs886059047
NM_018699.3(PRDM5):c.-61G>C rs556802821
NM_018699.3(PRDM5):c.1031-6dup rs35363618
NM_018699.3(PRDM5):c.1066T>A (p.Ser356Thr) rs140634372
NM_018699.3(PRDM5):c.1189-14T>C rs375296023
NM_018699.3(PRDM5):c.1234T>C (p.Leu412=) rs12499000
NM_018699.3(PRDM5):c.1283-5C>T rs185134294
NM_018699.3(PRDM5):c.128G>C (p.Arg43Thr) rs563401372
NM_018699.3(PRDM5):c.1379A>G (p.Lys460Arg) rs371617787
NM_018699.3(PRDM5):c.1385G>C (p.Arg462Thr) rs886059041
NM_018699.3(PRDM5):c.1623+8T>C rs201965676
NM_018699.3(PRDM5):c.1633T>C (p.Tyr545His) rs142515463
NM_018699.3(PRDM5):c.1722G>A (p.Gln574=) rs147796327
NM_018699.3(PRDM5):c.1768C>T (p.Arg590Ter) rs387907110
NM_018699.3(PRDM5):c.1887C>T (p.Asp629=) rs376740879
NM_018699.3(PRDM5):c.236C>G (p.Ser79Cys) rs201325904
NM_018699.3(PRDM5):c.237C>T (p.Ser79=) rs374500219
NM_018699.3(PRDM5):c.320A>G (p.Tyr107Cys) rs387907111
NM_018699.3(PRDM5):c.342A>C (p.Glu114Asp) rs146228268
NM_018699.3(PRDM5):c.36G>T (p.Leu12=) rs755929725
NM_018699.3(PRDM5):c.392A>C (p.Glu131Ala) rs886059044
NM_018699.3(PRDM5):c.544C>T (p.Leu182Phe) rs199602365
NM_018699.3(PRDM5):c.592G>C (p.Glu198Gln) rs886059043
NM_018699.3(PRDM5):c.650+5G>A rs754469516
NM_018699.3(PRDM5):c.650+7A>T rs751182540
NM_018699.3(PRDM5):c.660G>A (p.Gln220=) rs74320998
NM_018699.3(PRDM5):c.670A>T (p.Lys224Ter) rs1064794819
NM_018699.3(PRDM5):c.681A>G (p.Leu227=) rs343192
NM_018699.3(PRDM5):c.743+14G>A rs185567213
NM_018699.3(PRDM5):c.849G>A (p.Gln283=) rs17051264
NM_018699.3(PRDM5):c.94-10T>G rs886059045
NM_018699.3(PRDM5):c.946-9C>T rs886059042
NM_018699.3(PRDM5):c.946_1623del
NM_019105.6(TNXB):c.12174C>G (p.Cys4058Trp) rs56345590
NM_019105.6(TNXB):c.12218G>A (p.Arg4073His) rs201510617
NM_019105.6(TNXB):c.12514G>A (p.Asp4172Asn) rs200523717
NM_019105.6(TNXB):c.12524G>A (p.Ser4175Asn) rs199953230
NM_019105.6(TNXB):c.2030A>G (p.Asp677Gly) rs141190850