ClinVar Miner

List of variants reported as benign for Ehlers-Danlos syndrome

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 688
Download table as spreadsheet
HGVS dbSNP
NC_000002.12:g.188974372T>G
NM_000088.3(COL1A1):c.*1165C>G rs149419718
NM_000088.3(COL1A1):c.*1175T>G rs75713851
NM_000088.3(COL1A1):c.*1233G>A rs73987442
NM_000088.3(COL1A1):c.*1265C>T rs567249120
NM_000088.3(COL1A1):c.*202A>G rs564917505
NM_000088.3(COL1A1):c.*378C>G rs148131473
NM_000088.3(COL1A1):c.*744C>T rs1061947
NM_000088.3(COL1A1):c.*88T>C rs1061237
NM_000088.3(COL1A1):c.-23G>A rs200689194
NM_000088.3(COL1A1):c.1002+10G>T rs368316440
NM_000088.3(COL1A1):c.1249C>G (p.Pro417Ala) rs72648327
NM_000088.3(COL1A1):c.1269C>T (p.Pro423=) rs149301001
NM_000088.3(COL1A1):c.1300-8C>G rs41317361
NM_000088.3(COL1A1):c.1300-8C>T rs41317361
NM_000088.3(COL1A1):c.1461+13G>T rs371161009
NM_000088.3(COL1A1):c.1691G>A (p.Arg564His) rs1800211
NM_000088.3(COL1A1):c.1768-8C>T rs193922142
NM_000088.3(COL1A1):c.177G>T (p.Arg59=) rs1057297
NM_000088.3(COL1A1):c.1803C>T (p.Pro601=) rs148275339
NM_000088.3(COL1A1):c.1821C>T (p.Val607=) rs41316667
NM_000088.3(COL1A1):c.1873G>A (p.Ala625Thr) rs149561221
NM_000088.3(COL1A1):c.1930-14T>C rs2696247
NM_000088.3(COL1A1):c.1983+9G>C rs201091992
NM_000088.3(COL1A1):c.1983+9G>T rs201091992
NM_000088.3(COL1A1):c.2167G>A (p.Ala723Thr) rs150803124
NM_000088.3(COL1A1):c.2298T>C (p.Thr766=) rs2734272
NM_000088.3(COL1A1):c.229G>A (p.Glu77Lys) rs753683126
NM_000088.3(COL1A1):c.2467C>G (p.Pro823Ala) rs1800214
NM_000088.3(COL1A1):c.2595C>T (p.Arg865=) rs117672175
NM_000088.3(COL1A1):c.2613+13C>T rs368380161
NM_000088.3(COL1A1):c.2613+14G>A rs41316685
NM_000088.3(COL1A1):c.2932C>T (p.Pro978Ser) rs193922153
NM_000088.3(COL1A1):c.298+7C>A rs41317345
NM_000088.3(COL1A1):c.299-15C>T rs199523510
NM_000088.3(COL1A1):c.3099+7T>C rs201682029
NM_000088.3(COL1A1):c.3169G>A (p.Val1057Ile) rs575285203
NM_000088.3(COL1A1):c.3243T>C (p.Val1081=) rs1800217
NM_000088.3(COL1A1):c.334-5C>A rs115997082
NM_000088.3(COL1A1):c.3423A>C (p.Arg1141=) rs148737409
NM_000088.3(COL1A1):c.3424-6C>A rs370865189
NM_000088.3(COL1A1):c.3459T>C (p.Asp1153=) rs1800218
NM_000088.3(COL1A1):c.3766G>A (p.Ala1256Thr) rs148216434
NM_000088.3(COL1A1):c.3815-12G>T rs201066018
NM_000088.3(COL1A1):c.4179C>T (p.Ser1393=) rs1800219
NM_000088.3(COL1A1):c.4181A>G (p.Asn1394Ser) rs147266928
NM_000088.3(COL1A1):c.4249-12G>A rs2249492
NM_000088.3(COL1A1):c.627C>T (p.Gly209=) rs201136122
NM_000088.3(COL1A1):c.750+12G>T rs79480112
NM_000088.3(COL1A1):c.859-14T>G rs17639446
NM_000088.3(COL1A1):c.904-9G>T rs141726413
NM_000088.4(COL1A1):c.*1088G>A
NM_000088.4(COL1A1):c.*548C>A
NM_000088.4(COL1A1):c.*836C>T
NM_000088.4(COL1A1):c.*88T>A
NM_000088.4(COL1A1):c.*93A>G
NM_000088.4(COL1A1):c.-57G>A
NM_000088.4(COL1A1):c.-98G>A
NM_000088.4(COL1A1):c.1017C>T (p.Pro339=)
NM_000088.4(COL1A1):c.1045G>T (p.Val349Phe)
NM_000088.4(COL1A1):c.1272C>T (p.Gly424=)
NM_000088.4(COL1A1):c.1615-14C>T
NM_000088.4(COL1A1):c.2168C>T (p.Ala723Val) rs561374961
NM_000088.4(COL1A1):c.3755G>A (p.Arg1252His)
NM_000088.4(COL1A1):c.3815-10C>T
NM_000088.4(COL1A1):c.462C>T (p.Gly154=) rs41317351
NM_000088.4(COL1A1):c.957+10C>A rs376179885
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.*654_*655insGTTGTCC rs3917
NM_000089.3(COL1A2):c.*804G>T rs1062394
NM_000089.3(COL1A2):c.-287C>T rs190926256
NM_000089.3(COL1A2):c.1036-12A>G rs41316929
NM_000089.3(COL1A2):c.1036-14G>A rs114322680
NM_000089.3(COL1A2):c.122G>A (p.Arg41His) rs139528613
NM_000089.3(COL1A2):c.1383C>T (p.Pro461=) rs139726213
NM_000089.3(COL1A2):c.1446A>C (p.Pro482=) rs412777
NM_000089.3(COL1A2):c.1665+15A>G rs421587
NM_000089.3(COL1A2):c.1866T>C (p.Gly622=) rs765470622
NM_000089.3(COL1A2):c.1878G>T (p.Val626=) rs1800238
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.2163C>T (p.Gly721=) rs150670521
NM_000089.3(COL1A2):c.2168A>G (p.Asn723Ser) rs189374343
NM_000089.3(COL1A2):c.2274C>T (p.Pro758=) rs541912705
NM_000089.3(COL1A2):c.2425C>T (p.Pro809Ser) rs145355907
NM_000089.3(COL1A2):c.246T>C (p.Asp82=) rs1800222
NM_000089.3(COL1A2):c.2563G>A (p.Ala855Thr) rs541473356
NM_000089.3(COL1A2):c.2566-6A>G rs141088934
NM_000089.3(COL1A2):c.2700C>T (p.Ala900=) rs141688356
NM_000089.3(COL1A2):c.2861T>C (p.Ile954Thr) rs538844573
NM_000089.3(COL1A2):c.2904C>T (p.Pro968=) rs142352627
NM_000089.3(COL1A2):c.3018C>T (p.Gly1006=) rs62001059
NM_000089.3(COL1A2):c.304C>T (p.Pro102Ser) rs189557655
NM_000089.3(COL1A2):c.3135C>T (p.Gly1045=) rs1800248
NM_000089.3(COL1A2):c.3336C>T (p.Tyr1112=) rs34691365
NM_000089.3(COL1A2):c.3614G>A (p.Arg1205Gln) rs73428220
NM_000089.3(COL1A2):c.3712-13C>T rs74335369
NM_000089.3(COL1A2):c.3754A>G (p.Thr1252Ala) rs761465504
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.48C>T (p.Thr16=) rs780687409
NM_000089.3(COL1A2):c.52T>G (p.Cys18Gly) rs200278401
NM_000089.3(COL1A2):c.582T>G (p.Ala194=) rs144540908
NM_000089.3(COL1A2):c.671G>A (p.Arg224His) rs771139732
NM_000089.3(COL1A2):c.783T>C (p.Pro261=) rs200436925
NM_000089.3(COL1A2):c.808G>A (p.Val270Ile) rs368468
NM_000089.3(COL1A2):c.82-12A>G rs143689469
NM_000089.3(COL1A2):c.87T>C (p.Thr29=) rs1801182
NM_000089.3(COL1A2):c.892-13C>G rs200532328
NM_000089.3(COL1A2):c.936+14C>T rs42518
NM_000089.3(COL1A2):c.937-3C>T rs42519
NM_000089.3(COL1A2):c.948C>T (p.Gly316=) rs34511999
NM_000089.3(COL1A2):c.96+10C>T rs185341110
NM_000089.3(COL1A2):c.975A>T (p.Gly325=) rs148063325
NM_000089.3(COL1A2):c.981C>T (p.Arg327=) rs141762645
NM_000089.4(COL1A2):c.1446A>T (p.Pro482=)
NM_000089.4(COL1A2):c.1645C>G (p.Pro549Ala) rs42524
NM_000089.4(COL1A2):c.1825C>A (p.Arg609=) rs765398195
NM_000089.4(COL1A2):c.226-6C>A rs199616511
NM_000089.4(COL1A2):c.2526C>T (p.Phe842=)
NM_000089.4(COL1A2):c.2569C>A (p.Pro857Thr)
NM_000089.4(COL1A2):c.2826C>T (p.Pro942=) rs199580542
NM_000089.4(COL1A2):c.2967T>C (p.Pro989=) rs201760437
NM_000089.4(COL1A2):c.3144T>C (p.Gly1048=)
NM_000089.4(COL1A2):c.526T>C (p.Phe176Leu) rs370234887
NM_000089.4(COL1A2):c.594+5A>T rs200744314
NM_000090.3(COL3A1):c.*34T>G rs191843385
NM_000090.3(COL3A1):c.*354C>T rs41265555
NM_000090.3(COL3A1):c.*43A>G rs8224
NM_000090.3(COL3A1):c.*592T>A rs115345151
NM_000090.3(COL3A1):c.*622T>C rs572369155
NM_000090.3(COL3A1):c.*674G>A rs190903102
NM_000090.3(COL3A1):c.*799_*800del rs13306265
NM_000090.3(COL3A1):c.*88C>T rs11162
NM_000090.3(COL3A1):c.-80G>A rs41265575
NM_000090.3(COL3A1):c.114C>G (p.Ser38=) rs141241764
NM_000090.3(COL3A1):c.1257C>T (p.Ala419=) rs41272837
NM_000090.3(COL3A1):c.1509+5A>G rs572863064
NM_000090.3(COL3A1):c.1509+7A>C rs201740954
NM_000090.3(COL3A1):c.1550C>T (p.Pro517Leu) rs142085247
NM_000090.3(COL3A1):c.1659T>A (p.Pro553=) rs41263751
NM_000090.3(COL3A1):c.1697C>T (p.Pro566Leu) rs150543864
NM_000090.3(COL3A1):c.1770T>C (p.Pro590=) rs80302667
NM_000090.3(COL3A1):c.1804C>A (p.Pro602Thr) rs35795890
NM_000090.3(COL3A1):c.1815+5G>A rs146652498
NM_000090.3(COL3A1):c.1927T>C (p.Leu643=) rs41263757
NM_000090.3(COL3A1):c.1977+9C>T rs184223621
NM_000090.3(COL3A1):c.1995C>T (p.Ala665=) rs149093989
NM_000090.3(COL3A1):c.2002C>T (p.Pro668Ser) rs1801183
NM_000090.3(COL3A1):c.2022+5T>C rs41263765
NM_000090.3(COL3A1):c.2035G>A (p.Ala679Thr) rs41263773
NM_000090.3(COL3A1):c.2056C>G (p.Pro686Ala) rs41263775
NM_000090.3(COL3A1):c.217G>C (p.Asp73His) rs200246388
NM_000090.3(COL3A1):c.226A>G (p.Asn76Asp) rs142045411
NM_000090.3(COL3A1):c.2355C>G (p.Pro785=) rs148901664
NM_000090.3(COL3A1):c.2493T>C (p.Gly831=) rs551541918
NM_000090.3(COL3A1):c.2723C>T (p.Ala908Val) rs144036995
NM_000090.3(COL3A1):c.2805T>C (p.Pro935=) rs111567071
NM_000090.3(COL3A1):c.2958C>T (p.Asn986=) rs41264441
NM_000090.3(COL3A1):c.3061C>A (p.Leu1021Ile) rs139619440
NM_000090.3(COL3A1):c.3132C>T (p.Gly1044=) rs369992399
NM_000090.3(COL3A1):c.3390C>T (p.Ile1130=) rs148918486
NM_000090.3(COL3A1):c.3413C>T (p.Pro1138Leu) rs201880122
NM_000090.3(COL3A1):c.3642C>A (p.Gly1214=) rs184402915
NM_000090.3(COL3A1):c.3654G>T (p.Pro1218=) rs35759441
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.3818A>G (p.Lys1273Arg) rs144614075
NM_000090.3(COL3A1):c.3966G>A (p.Glu1322=) rs560861999
NM_000090.3(COL3A1):c.4021G>A (p.Gly1341Ser) rs140646380
NM_000090.3(COL3A1):c.4059G>T (p.Gln1353His) rs1516446
NM_000090.3(COL3A1):c.515A>C (p.Tyr172Ser) rs771654029
NM_000090.3(COL3A1):c.583-8C>T rs10166835
NM_000090.3(COL3A1):c.799-6del rs767927599
NM_000090.3(COL3A1):c.80-13A>C rs566189676
NM_000090.3(COL3A1):c.812G>A (p.Arg271Gln) rs112185887
NM_000090.3(COL3A1):c.898-5T>C rs535434618
NM_000090.4(COL3A1):c.*828G>T
NM_000090.4(COL3A1):c.1293+15T>A rs2271679
NM_000090.4(COL3A1):c.1347C>T (p.Arg449=)
NM_000090.4(COL3A1):c.1663-94_1663-93insCACACACA rs200204993
NM_000090.4(COL3A1):c.1816-14G>C rs7579815
NM_000090.4(COL3A1):c.1851G>A (p.Gln617=) rs7579903
NM_000090.4(COL3A1):c.1978-11C>T rs13306272
NM_000090.4(COL3A1):c.2002C>A (p.Pro668Thr) rs1801183
NM_000090.4(COL3A1):c.2092G>A (p.Ala698Thr) rs1800255
NM_000090.4(COL3A1):c.2244T>C (p.Gly748=) rs1801184
NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr) rs149722210
NM_000090.4(COL3A1):c.3613A>G (p.Ile1205Val) rs2271683
NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783
NM_000090.4(COL3A1):c.4059T>G (p.His1353Gln) rs1516446
NM_000090.4(COL3A1):c.799-11A>T
NM_000093.5(COL5A1):c.*1287C>T
NM_000093.5(COL5A1):c.*187C>T
NM_000093.5(COL5A1):c.*479G>A
NM_000093.5(COL5A1):c.*489A>G
NM_000093.5(COL5A1):c.*865T>A
NM_000093.5(COL5A1):c.-199C>T
NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045
NM_000093.5(COL5A1):c.1967C>T (p.Pro656Leu) rs748345448
NM_000302.4(PLOD1):c.*614G>T
NM_000302.4(PLOD1):c.*71C>G rs2230899
NM_000302.4(PLOD1):c.1141G>A (p.Val381Met) rs2230896
NM_000302.4(PLOD1):c.1164C>T (p.Thr388=) rs74949176
NM_000302.4(PLOD1):c.1206C>T (p.Asn402=) rs1130529
NM_000302.4(PLOD1):c.1329-20G>A rs78527487
NM_000302.4(PLOD1):c.1632A>C (p.Ala544=) rs2230898
NM_000302.4(PLOD1):c.177C>T (p.Gly59=) rs34032489
NM_000302.4(PLOD1):c.1788G>T (p.Val596=) rs35460537
NM_000302.4(PLOD1):c.2124T>C (p.His708=) rs879690
NM_000302.4(PLOD1):c.2133C>G (p.Leu711=) rs879691
NM_000302.4(PLOD1):c.250G>A (p.Ala84Thr) rs34878020
NM_000302.4(PLOD1):c.294C>T (p.Phe98=) rs7529452
NM_000302.4(PLOD1):c.295G>A (p.Ala99Thr) rs7551175
NM_000302.4(PLOD1):c.302+15G>A rs140227667
NM_000302.4(PLOD1):c.358G>T (p.Ala120Ser) rs2273285
NM_000302.4(PLOD1):c.509A>T (p.Glu170Val) rs554232128
NM_000302.4(PLOD1):c.540G>A (p.Gln180=) rs35958757
NM_000302.4(PLOD1):c.555G>T (p.Lys185Asn) rs142978362
NM_000302.4(PLOD1):c.644-17T>G rs41307745
NM_000302.4(PLOD1):c.76+17C>T rs113691754
NM_000302.4(PLOD1):c.77-3407C>T rs75220940
NM_000302.4(PLOD1):c.802A>G (p.Thr268Ala) rs74354225
NM_000302.4(PLOD1):c.975+13C>T rs79345327
NM_000302.4(PLOD1):c.976-16C>T rs142329815
NM_000393.5(COL5A2):c.*1076G>A rs114123906
NM_000393.5(COL5A2):c.*1165G>A rs13914
NM_000393.5(COL5A2):c.*1379A>G rs114330868
NM_000393.5(COL5A2):c.*1400A>G rs12886
NM_000393.5(COL5A2):c.*1402T>G rs11186
NM_000393.5(COL5A2):c.*1669G>A rs76151083
NM_000393.5(COL5A2):c.*1852T>C rs116255986
NM_000393.5(COL5A2):c.*1904C>T rs75096234
NM_000393.5(COL5A2):c.*1960A>G rs76482660
NM_000393.5(COL5A2):c.*2062G>A rs77821675
NM_000393.5(COL5A2):c.*2131T>A rs113513554
NM_000393.5(COL5A2):c.*298G>A rs7586
NM_000393.5(COL5A2):c.*391A>G rs143552248
NM_000393.5(COL5A2):c.*392T>C rs1131518
NM_000393.5(COL5A2):c.*423C>T rs77413180
NM_000393.5(COL5A2):c.*436A>G
NM_000393.5(COL5A2):c.*446G>A rs570467727
NM_000393.5(COL5A2):c.*46C>A rs112739705
NM_000393.5(COL5A2):c.*476T>C
NM_000393.5(COL5A2):c.*515C>T rs113311693
NM_000393.5(COL5A2):c.*525A>G
NM_000393.5(COL5A2):c.*561T>C rs564981830
NM_000393.5(COL5A2):c.*639G>A rs73981487
NM_000393.5(COL5A2):c.*798A>G rs116775405
NM_000393.5(COL5A2):c.-34C>T rs114102476
NM_000393.5(COL5A2):c.-50C>T rs183260194
NM_000393.5(COL5A2):c.1006-9C>T rs73978832
NM_000393.5(COL5A2):c.1017A>C (p.Gly339=) rs140609193
NM_000393.5(COL5A2):c.1035G>C (p.Gly345=) rs148786600
NM_000393.5(COL5A2):c.1081A>C (p.Met361Leu) rs76148000
NM_000393.5(COL5A2):c.1104+15T>C rs75486409
NM_000393.5(COL5A2):c.1301C>T (p.Thr434Met) rs145850743
NM_000393.5(COL5A2):c.1311= (p.Pro437=) rs2229495
NM_000393.5(COL5A2):c.1378C>T (p.Pro460Ser) rs35830636
NM_000393.5(COL5A2):c.1400C>T (p.Pro467Leu) rs115570272
NM_000393.5(COL5A2):c.1454C>A (p.Pro485Gln) rs145281966
NM_000393.5(COL5A2):c.1455+6G>A rs113512079
NM_000393.5(COL5A2):c.1535T>C (p.Val512Ala) rs35852101
NM_000393.5(COL5A2):c.1716+9A>G rs201934598
NM_000393.5(COL5A2):c.186T>C (p.Cys62=) rs142832916
NM_000393.5(COL5A2):c.198T>C (p.Asn66=) rs76511879
NM_000393.5(COL5A2):c.2011C>T (p.Pro671Ser) rs139189200
NM_000393.5(COL5A2):c.2032-7G>A rs141571092
NM_000393.5(COL5A2):c.2291C>G (p.Pro764Arg) rs150260969
NM_000393.5(COL5A2):c.2307T>A (p.Ile769=) rs763068575
NM_000393.5(COL5A2):c.2376A>C (p.Gly792=) rs35860166
NM_000393.5(COL5A2):c.2498C>T (p.Pro833Leu) rs116298748
NM_000393.5(COL5A2):c.249C>T (p.Ala83=) rs142388534
NM_000393.5(COL5A2):c.2554-14A>G rs142429770
NM_000393.5(COL5A2):c.2562C>T (p.Asp854=) rs148430780
NM_000393.5(COL5A2):c.261G>A (p.Thr87=) rs142044596
NM_000393.5(COL5A2):c.2712G>A (p.Pro904=) rs372869641
NM_000393.5(COL5A2):c.2716-4C>T rs111644889
NM_000393.5(COL5A2):c.2770-5A>G rs370313198
NM_000393.5(COL5A2):c.2787G>A (p.Ala929=) rs151027388
NM_000393.5(COL5A2):c.2852G>A (p.Gly951Glu) rs772448543
NM_000393.5(COL5A2):c.2867G>C (p.Arg956Pro) rs6434313
NM_000393.5(COL5A2):c.2988C>T (p.Gly996=) rs201299226
NM_000393.5(COL5A2):c.3021C>T (p.Pro1007=) rs143318792
NM_000393.5(COL5A2):c.3098C>T (p.Pro1033Leu) rs75542756
NM_000393.5(COL5A2):c.315= (p.Thr105=) rs4128539
NM_000393.5(COL5A2):c.315C>A (p.Thr105=) rs4128539
NM_000393.5(COL5A2):c.322+157C>T rs4128538
NM_000393.5(COL5A2):c.3316C>T (p.Arg1106Trp) rs146789395
NM_000393.5(COL5A2):c.33C>T (p.Leu11=) rs140108893
NM_000393.5(COL5A2):c.3411= (p.Gly1137=) rs6434312
NM_000393.5(COL5A2):c.3471+8A>T rs367643805
NM_000393.5(COL5A2):c.3689C>G (p.Thr1230Arg) rs62184175
NM_000393.5(COL5A2):c.3690A>C (p.Thr1230=) rs10197596
NM_000393.5(COL5A2):c.370-16C>T rs148220961
NM_000393.5(COL5A2):c.3720T>C (p.Tyr1240=) rs10208525
NM_000393.5(COL5A2):c.4173C>G (p.Arg1391=) rs148590409
NM_000393.5(COL5A2):c.4197G>A (p.Gln1399=) rs78870279
NM_000393.5(COL5A2):c.4240G>A (p.Asp1414Asn) rs139229616
NM_000393.5(COL5A2):c.4389A>G (p.Glu1463=) rs146100075
NM_000393.5(COL5A2):c.4449C>T (p.Gly1483=) rs78905646
NM_000393.5(COL5A2):c.552C>T (p.Pro184=) rs548352939
NM_000393.5(COL5A2):c.568-10G>A rs58106884
NM_000393.5(COL5A2):c.750G>A (p.Pro250=) rs751819198
NM_000393.5(COL5A2):c.798+10C>T rs368165817
NM_000393.5(COL5A2):c.799-15dup rs1169314276
NM_000393.5(COL5A2):c.852+14C>T rs56310996
NM_000393.5(COL5A2):c.961-3del rs542134887
NM_000393.5(COL5A2):c.975C>T (p.Pro325=) rs144344474
NM_000393.5(COL5A2):c.98-12T>G rs117917418
NM_001110556.2(FLNA):c.1029C>T (p.Ser343=) rs199853721
NM_001110556.2(FLNA):c.1030G>A (p.Val344Ile) rs782007408
NM_001110556.2(FLNA):c.1044C>T (p.Pro348=) rs375821223
NM_001110556.2(FLNA):c.1176G>A (p.Glu392=) rs201173693
NM_001110556.2(FLNA):c.1191C>T (p.Ile397=) rs200048692
NM_001110556.2(FLNA):c.1239G>A (p.Thr413=) rs200278701
NM_001110556.2(FLNA):c.1286C>T (p.Thr429Met) rs36051194
NM_001110556.2(FLNA):c.1291G>C (p.Glu431Gln) rs781915319
NM_001110556.2(FLNA):c.1310G>A (p.Arg437Gln) rs782320818
NM_001110556.2(FLNA):c.1327C>T (p.Arg443Cys) rs782673341
NM_001110556.2(FLNA):c.1429+8C>T rs202181557
NM_001110556.2(FLNA):c.1439C>T (p.Pro480Leu) rs782168634
NM_001110556.2(FLNA):c.1450C>T (p.Arg484Trp) rs61730768
NM_001110556.2(FLNA):c.1579C>T (p.Arg527Cys) rs202029322
NM_001110556.2(FLNA):c.1582G>A (p.Val528Met) rs143873938
NM_001110556.2(FLNA):c.1691+7C>A rs199565118
NM_001110556.2(FLNA):c.1692-10G>A rs199740539
NM_001110556.2(FLNA):c.1693C>T (p.Pro565Ser) rs782580317
NM_001110556.2(FLNA):c.1716C>T (p.Thr572=) rs201550267
NM_001110556.2(FLNA):c.1828+3A>G rs368041880
NM_001110556.2(FLNA):c.1875C>T (p.Asp625=) rs200660642
NM_001110556.2(FLNA):c.1881C>T (p.Gly627=) rs188138322
NM_001110556.2(FLNA):c.1900C>G (p.Arg634Gly) rs111516546
NM_001110556.2(FLNA):c.1968C>T (p.Leu656=) rs73638274
NM_001110556.2(FLNA):c.1998G>A (p.Ala666=) rs34510365
NM_001110556.2(FLNA):c.2023-4C>G rs368719012
NM_001110556.2(FLNA):c.2023-6C>T rs372021340
NM_001110556.2(FLNA):c.2023-8C>T rs587780335
NM_001110556.2(FLNA):c.2103C>T (p.His701=) rs200227077
NM_001110556.2(FLNA):c.2220G>A (p.Pro740=) rs202055800
NM_001110556.2(FLNA):c.2310C>A (p.Asn770Lys) rs202109957
NM_001110556.2(FLNA):c.2313G>A (p.Lys771=) rs782741007
NM_001110556.2(FLNA):c.237G>C (p.Ala79=) rs200626788
NM_001110556.2(FLNA):c.2433C>T (p.Ala811=) rs35986650
NM_001110556.2(FLNA):c.2449C>T (p.Pro817Ser) rs200053635
NM_001110556.2(FLNA):c.2516C>T (p.Thr839Met) rs201603843
NM_001110556.2(FLNA):c.2613C>T (p.Asp871=) rs188212919
NM_001110556.2(FLNA):c.2725G>A (p.Val909Ile) rs199911951
NM_001110556.2(FLNA):c.2843A>G (p.Asn948Ser) rs372718245
NM_001110556.2(FLNA):c.2845G>A (p.Val949Ile) rs201656372
NM_001110556.2(FLNA):c.3035C>T (p.Ser1012Leu) rs17091204
NM_001110556.2(FLNA):c.3045G>A (p.Ala1015=) rs370868704
NM_001110556.2(FLNA):c.3270C>T (p.Ile1090=) rs79391751
NM_001110556.2(FLNA):c.3285C>T (p.Ala1095=) rs199530601
NM_001110556.2(FLNA):c.3330G>A (p.Ala1110=) rs781917512
NM_001110556.2(FLNA):c.3379G>A (p.Val1127Met) rs398123617
NM_001110556.2(FLNA):c.3387C>T (p.Thr1129=) rs372874251
NM_001110556.2(FLNA):c.3420C>T (p.Phe1140=) rs782219300
NM_001110556.2(FLNA):c.3421G>A (p.Ala1141Thr) rs201908251
NM_001110556.2(FLNA):c.3429C>G (p.Thr1143=) rs183899917
NM_001110556.2(FLNA):c.3504C>T (p.Pro1168=) rs368009936
NM_001110556.2(FLNA):c.3522C>T (p.Thr1174=) rs373625856
NM_001110556.2(FLNA):c.3597G>A (p.Ser1199=) rs200258756
NM_001110556.2(FLNA):c.3678C>T (p.Pro1226=) rs377579695
NM_001110556.2(FLNA):c.3690C>T (p.Thr1230=) rs35015603
NM_001110556.2(FLNA):c.3717C>T (p.Pro1239=) rs372265042
NM_001110556.2(FLNA):c.3756G>A (p.Ala1252=) rs186619828
NM_001110556.2(FLNA):c.3872C>T (p.Pro1291Leu) rs137853319
NM_001110556.2(FLNA):c.3876C>T (p.His1292=) rs199917719
NM_001110556.2(FLNA):c.3877G>A (p.Val1293Ile) rs782265007
NM_001110556.2(FLNA):c.3995A>G (p.Asp1332Gly) rs200615848
NM_001110556.2(FLNA):c.4082A>G (p.His1361Arg) rs782774182
NM_001110556.2(FLNA):c.4232C>T (p.Ser1411Leu) rs782426283
NM_001110556.2(FLNA):c.4233G>A (p.Ser1411=) rs34439033
NM_001110556.2(FLNA):c.423C>T (p.Ile141=) rs782198156
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356
NM_001110556.2(FLNA):c.4494C>T (p.Asp1498=) rs183948518
NM_001110556.2(FLNA):c.4499T>C (p.Val1500Ala) rs781972123
NM_001110556.2(FLNA):c.4506C>T (p.Asn1502=) rs200857989
NM_001110556.2(FLNA):c.4533T>C (p.Tyr1511=) rs191786597
NM_001110556.2(FLNA):c.4551G>C (p.Gly1517=) rs370476531
NM_001110556.2(FLNA):c.4598+8G>C rs112379782
NM_001110556.2(FLNA):c.4737G>C (p.Leu1579=) rs201904661
NM_001110556.2(FLNA):c.4866C>T (p.Tyr1622=) rs200835571
NM_001110556.2(FLNA):c.4908C>T (p.Ala1636=) rs367979917
NM_001110556.2(FLNA):c.4920G>A (p.Gly1640=) rs61741041
NM_001110556.2(FLNA):c.5055G>A (p.Thr1685=) rs372863999
NM_001110556.2(FLNA):c.5160C>T (p.Tyr1720=) rs782152127
NM_001110556.2(FLNA):c.5190C>T (p.His1730=) rs781793192
NM_001110556.2(FLNA):c.5193G>A (p.Val1731=) rs201458268
NM_001110556.2(FLNA):c.5218-4G>A rs370196495
NM_001110556.2(FLNA):c.5290G>A (p.Ala1764Thr) rs57108893
NM_001110556.2(FLNA):c.543G>A (p.Pro181=) rs201486643
NM_001110556.2(FLNA):c.5589C>T (p.Val1863=) rs200787122
NM_001110556.2(FLNA):c.5616G>C (p.Gly1872=) rs782204300
NM_001110556.2(FLNA):c.5658C>T (p.Phe1886=) rs182894587
NM_001110556.2(FLNA):c.5661C>T (p.Thr1887=) rs782253233
NM_001110556.2(FLNA):c.5715G>A (p.Pro1905=) rs367674709
NM_001110556.2(FLNA):c.5763C>T (p.Ser1921=) rs781929535
NM_001110556.2(FLNA):c.5814C>T (p.Tyr1938=) rs140084263
NM_001110556.2(FLNA):c.5958T>C (p.Thr1986=) rs782787843
NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu) rs187029309
NM_001110556.2(FLNA):c.6001C>T (p.Arg2001Trp) rs782160183
NM_001110556.2(FLNA):c.6023-10C>G rs72616474
NM_001110556.2(FLNA):c.6048G>A (p.Thr2016=) rs782745205
NM_001110556.2(FLNA):c.62_64dup (p.Val21dup) rs782721874
NM_001110556.2(FLNA):c.6314C>G (p.Thr2105Ser) rs200200745
NM_001110556.2(FLNA):c.6503-9A>G rs781919390
NM_001110556.2(FLNA):c.6516G>A (p.Gln2172=) rs199802825
NM_001110556.2(FLNA):c.663C>T (p.Pro221=) rs2073470
NM_001110556.2(FLNA):c.6642G>C (p.Val2214=) rs1064822
NM_001110556.2(FLNA):c.6742C>T (p.Leu2248=) rs113510895
NM_001110556.2(FLNA):c.6870C>T (p.Asp2290=) rs782651736
NM_001110556.2(FLNA):c.6936C>T (p.Asn2312=) rs201203814
NM_001110556.2(FLNA):c.7023+10C>T rs782777494
NM_001110556.2(FLNA):c.7167T>G (p.Ala2389=) rs782541746
NM_001110556.2(FLNA):c.7221C>T (p.Asn2407=) rs782129907
NM_001110556.2(FLNA):c.7222G>A (p.Gly2408Ser) rs201168500
NM_001110556.2(FLNA):c.7224C>T (p.Gly2408=) rs12008807
NM_001110556.2(FLNA):c.7267C>T (p.Pro2423Ser) rs200198847
NM_001110556.2(FLNA):c.732C>T (p.Pro244=) rs371092631
NM_001110556.2(FLNA):c.7434G>A (p.Glu2478=) rs74667788
NM_001110556.2(FLNA):c.7450C>T (p.Arg2484Cys) rs782557713
NM_001110556.2(FLNA):c.7506C>T (p.Gly2502=) rs200195310
NM_001110556.2(FLNA):c.753C>T (p.Asn251=) rs377507152
NM_001110556.2(FLNA):c.7553-10T>C rs782156724
NM_001110556.2(FLNA):c.7558C>T (p.Arg2520Cys) rs782244918
NM_001110556.2(FLNA):c.7596A>G (p.Ser2532=) rs200694807
NM_001110556.2(FLNA):c.7686C>T (p.Ala2562=) rs76337075
NM_001110556.2(FLNA):c.768T>C (p.Ser256=) rs782357419
NM_001110556.2(FLNA):c.7756+8A>G rs201663443
NM_001110556.2(FLNA):c.7822C>T (p.His2608Tyr) rs781993962
NM_001110556.2(FLNA):c.861C>T (p.Tyr287=) rs375503410
NM_001110556.2(FLNA):c.869-7C>T rs143311779
NM_001110556.2(FLNA):c.882A>G (p.Thr294=) rs184864998
NM_001110556.2(FLNA):c.942A>G (p.Gly314=) rs200763980
NM_001110556.2(FLNA):c.958G>A (p.Val320Met) rs781889196
NM_001128225.3(SLC39A13):c.1074G>A (p.Ala358=) rs576702857
NM_001128225.3(SLC39A13):c.119G>A (p.Arg40Gln) rs35741412
NM_001128225.3(SLC39A13):c.216C>T (p.Leu72=) rs34986695
NM_001128225.3(SLC39A13):c.83= (p.Glu28=) rs2010519
NM_001128225.3(SLC39A13):c.83A>G (p.Glu28Gly) rs2010519
NM_001278074.1(COL5A1):c.*1260G>A rs557696379
NM_001278074.1(COL5A1):c.*1343A>G rs77145856
NM_001278074.1(COL5A1):c.*145G>A rs181323324
NM_001278074.1(COL5A1):c.*1642G>A rs116053626
NM_001278074.1(COL5A1):c.*1807G>C rs374715103
NM_001278074.1(COL5A1):c.*1922G>A rs74979726
NM_001278074.1(COL5A1):c.*2090C>T rs578207933
NM_001278074.1(COL5A1):c.*283G>A rs114171895
NM_001278074.1(COL5A1):c.*302C>G rs376087882
NM_001278074.1(COL5A1):c.*424A>G rs574355137
NM_001278074.1(COL5A1):c.*58C>T rs56259444
NM_001278074.1(COL5A1):c.*608G>A rs537858864
NM_001278074.1(COL5A1):c.*733C>A rs3196378
NM_001278074.1(COL5A1):c.*948C>G rs142032213
NM_001278074.1(COL5A1):c.-110A>G rs180741151
NM_001278074.1(COL5A1):c.-37G>A rs374979485
NM_001278074.1(COL5A1):c.-382C>G rs555826102
NM_001278074.1(COL5A1):c.-4C>G rs769694875
NM_001278074.1(COL5A1):c.1062C>T (p.Asp354=) rs61737708
NM_001278074.1(COL5A1):c.1077G>A (p.Glu359=) rs201166370
NM_001278074.1(COL5A1):c.1092C>T (p.Pro364=) rs41306391
NM_001278074.1(COL5A1):c.1143C>T (p.Ala381=) rs200245996
NM_001278074.1(COL5A1):c.1158C>T (p.Ser386=) rs61729497
NM_001278074.1(COL5A1):c.1191G>T (p.Ala397=) rs199755089
NM_001278074.1(COL5A1):c.126C>T (p.Leu42=) rs149369116
NM_001278074.1(COL5A1):c.1281G>A (p.Pro427=) rs147292897
NM_001278074.1(COL5A1):c.1332+46T>C rs3109675
NM_001278074.1(COL5A1):c.1332+92C>G rs3124310
NM_001278074.1(COL5A1):c.1333-8A>G rs145620416
NM_001278074.1(COL5A1):c.1383C>T (p.Ile461=) rs61736827
NM_001278074.1(COL5A1):c.1431G>A (p.Ala477=) rs61729545
NM_001278074.1(COL5A1):c.1539C>T (p.Pro513=) rs151173863
NM_001278074.1(COL5A1):c.1566G>A (p.Leu522=) rs61737941
NM_001278074.1(COL5A1):c.1570-59T>C rs12686426
NM_001278074.1(COL5A1):c.1935+8T>G rs79195626
NM_001278074.1(COL5A1):c.1936-21G>A rs77716946
NM_001278074.1(COL5A1):c.193C>T (p.Arg65Trp) rs139468527
NM_001278074.1(COL5A1):c.194G>A (p.Arg65Gln) rs116003670
NM_001278074.1(COL5A1):c.1953C>T (p.Ser651=) rs78215347
NM_001278074.1(COL5A1):c.1998C>T (p.Asp666=) rs143858735
NM_001278074.1(COL5A1):c.2031G>A (p.Glu677=) rs61737719
NM_001278074.1(COL5A1):c.2058G>A (p.Pro686=) rs143443499
NM_001278074.1(COL5A1):c.2089-9C>T rs181246690
NM_001278074.1(COL5A1):c.2331+15C>T rs369093559
NM_001278074.1(COL5A1):c.2386-7C>T rs746845504
NM_001278074.1(COL5A1):c.240C>T (p.Asp80=) rs79724538
NM_001278074.1(COL5A1):c.2439C>T (p.Asp813=) rs148648778
NM_001278074.1(COL5A1):c.252C>T (p.Ser84=) rs151293601
NM_001278074.1(COL5A1):c.2588A>T (p.Glu863Val) rs139788610
NM_001278074.1(COL5A1):c.2592+16C>G rs145429817
NM_001278074.1(COL5A1):c.2695G>A (p.Gly899Ser) rs149964491
NM_001278074.1(COL5A1):c.2724G>A (p.Pro908=) rs41310207
NM_001278074.1(COL5A1):c.2751G>A (p.Pro917=) rs200319017
NM_001278074.1(COL5A1):c.277+6T>G rs201910803
NM_001278074.1(COL5A1):c.278C>T (p.Ala93Val) rs41306397
NM_001278074.1(COL5A1):c.2799+4T>C rs75815945
NM_001278074.1(COL5A1):c.2852A>G (p.Asn951Ser) rs61736966
NM_001278074.1(COL5A1):c.2892C>T (p.Gly964=) rs78511105
NM_001278074.1(COL5A1):c.2997C>T (p.Val999=) rs201897490
NM_001278074.1(COL5A1):c.3069C>T (p.Pro1023=) rs139070070
NM_001278074.1(COL5A1):c.3204+3G>A rs202054108
NM_001278074.1(COL5A1):c.3259-8C>T rs146461106
NM_001278074.1(COL5A1):c.3260G>C (p.Gly1087Ala) rs559882772
NM_001278074.1(COL5A1):c.3474+7C>T rs550497696
NM_001278074.1(COL5A1):c.3594C>T (p.Gly1198=) rs146176718
NM_001278074.1(COL5A1):c.378G>T (p.Gln126His) rs145178917
NM_001278074.1(COL5A1):c.3855C>T (p.Gly1285=) rs139544503
NM_001278074.1(COL5A1):c.3888G>A (p.Pro1296=) rs375631252
NM_001278074.1(COL5A1):c.3906+15G>C rs370937109
NM_001278074.1(COL5A1):c.4065C>T (p.Pro1355=) rs61737906
NM_001278074.1(COL5A1):c.4122G>A (p.Thr1374=) rs3827848
NM_001278074.1(COL5A1):c.4135C>T (p.Pro1379Ser) rs61739195
NM_001278074.1(COL5A1):c.4177-107T>C rs7854010
NM_001278074.1(COL5A1):c.4230+103T>C rs11792894
NM_001278074.1(COL5A1):c.4230+118C>T rs7847840
NM_001278074.1(COL5A1):c.4230+5C>T rs142248898
NM_001278074.1(COL5A1):c.4230+6G>A rs77176843
NM_001278074.1(COL5A1):c.4231-12G>A rs188473199
NM_001278074.1(COL5A1):c.4231-9G>A rs570545638
NM_001278074.1(COL5A1):c.4393-17C>T rs141152269
NM_001278074.1(COL5A1):c.4393-9C>T rs11792181
NM_001278074.1(COL5A1):c.4410C>T (p.Pro1470=) rs41310953
NM_001278074.1(COL5A1):c.4473C>T (p.Ile1491=) rs537768945
NM_001278074.1(COL5A1):c.4482G>A (p.Pro1494=) rs2228560
NM_001278074.1(COL5A1):c.4560C>T (p.Ile1520=) rs2228559
NM_001278074.1(COL5A1):c.4659G>A (p.Pro1553=) rs368782334
NM_001278074.1(COL5A1):c.4683A>C (p.Gly1561=) rs149959668
NM_001278074.1(COL5A1):c.4699-6C>T rs113090154
NM_001278074.1(COL5A1):c.4788G>C (p.Gly1596=) rs138436047
NM_001278074.1(COL5A1):c.4795G>C (p.Glu1599Gln) rs149212775
NM_001278074.1(COL5A1):c.4812C>T (p.Tyr1604=) rs542783734
NM_001278074.1(COL5A1):c.5068-139T>C rs113256540
NM_001278074.1(COL5A1):c.5137-12C>T rs191758714
NM_001278074.1(COL5A1):c.5151C>T (p.Asp1717=) rs61729558
NM_001278074.1(COL5A1):c.5190C>T (p.Phe1730=) rs61729481
NM_001278074.1(COL5A1):c.5270C>T (p.Thr1757Met) rs2229817
NM_001278074.1(COL5A1):c.5350G>A (p.Ala1784Thr) rs143859495
NM_001278074.1(COL5A1):c.5407G>A (p.Asp1803Asn) rs61729495
NM_001278074.1(COL5A1):c.5469G>C (p.Ala1823=) rs367657505
NM_001278074.1(COL5A1):c.573C>T (p.Leu191=) rs116715381
NM_001278074.1(COL5A1):c.574G>A (p.Asp192Asn) rs138579182
NM_001278074.1(COL5A1):c.61C>T (p.Pro21Ser) rs548525119
NM_001278074.1(COL5A1):c.761C>T (p.Ser254Leu) rs144844792
NM_001278074.1(COL5A1):c.850G>A (p.Glu284Lys) rs75648697
NM_001278074.1(COL5A1):c.925-44C>T rs41302966
NM_001278074.1(COL5A1):c.996C>T (p.Asp332=) rs144763302
NM_001365276.2(TNXB):c.12170A>T (p.Asn4057Ile) rs17421133
NM_001365276.2(TNXB):c.7553G>A (p.Gly2518Glu) rs1009382
NM_001367624.1(ZNF469):c.*1001A>G rs3848234
NM_001367624.1(ZNF469):c.*551_*577TCCTCCCTCTGACCACAGGGTCATGCC[3] rs6145934
NM_001367624.1(ZNF469):c.*618T>G rs3859020
NM_001367624.1(ZNF469):c.*788G>A rs3894713
NM_001367624.1(ZNF469):c.*8G>A rs45504291
NM_001367624.1(ZNF469):c.1069T>C (p.Ser357Pro) rs11648572
NM_001367624.1(ZNF469):c.10972G>C (p.Glu3658Gln) rs1105066
NM_001367624.1(ZNF469):c.1098A>C (p.Arg366Ser) rs11640794
NM_001367624.1(ZNF469):c.10990= (p.Ala3664=) rs904783
NM_001367624.1(ZNF469):c.11757A>G (p.Pro3919=) rs4782301
NM_001367624.1(ZNF469):c.11856C>T (p.Ser3952=) rs4782362
NM_001367624.1(ZNF469):c.1529G>C (p.Gly510Ala) rs7199961
NM_001367624.1(ZNF469):c.1776A>G (p.Pro592=) rs12927001
NM_001367624.1(ZNF469):c.2130T>C (p.Pro710=) rs12918876
NM_001367624.1(ZNF469):c.3153T>C (p.Ile1051=) rs9924504
NM_001367624.1(ZNF469):c.3522G>A (p.Pro1174=) rs9938800
NM_001367624.1(ZNF469):c.3568A>G (p.Lys1190Glu) rs7197071
NM_001367624.1(ZNF469):c.4343C>T (p.Pro1448Leu) rs4782300
NM_001367624.1(ZNF469):c.4419T>G (p.Ser1473=) rs12445417
NM_001367624.1(ZNF469):c.457C>G (p.Pro153Ala) rs532620482
NM_001367624.1(ZNF469):c.5661C>G (p.Thr1887=) rs9931465
NM_001367624.1(ZNF469):c.6462G>A (p.Pro2154=) rs61472141
NM_001367624.1(ZNF469):c.7156G>C (p.Gly2386Arg) rs12598474
NM_001367624.1(ZNF469):c.8093T>A (p.Leu2698Gln) rs3812956
NM_001367624.1(ZNF469):c.8604C>T (p.Arg2868=) rs3812953
NM_001367624.1(ZNF469):c.8627A>G (p.His2876Arg) rs1983014
NM_001367624.2(ZNF469):c.*870del rs35684712
NM_007255.3(B4GALT7):c.219T>C (p.Arg73=) rs11537644
NM_007255.3(B4GALT7):c.297G>T (p.Val99=) rs114036939
NM_007255.3(B4GALT7):c.411C>T (p.Phe137=) rs142951817
NM_007255.3(B4GALT7):c.413+60C>G rs28499092
NM_007255.3(B4GALT7):c.777T>C (p.His259=) rs729459
NM_013352.4(DSE):c.114C>T (p.Ala38=) rs36061922
NM_013352.4(DSE):c.1926= (p.Asn642=) rs560644
NM_013352.4(DSE):c.209G>A (p.Arg70His) rs147683614
NM_013352.4(DSE):c.216G>A (p.Thr72=) rs61747210
NM_013352.4(DSE):c.2619_2621del (p.Gly874del) rs111252008
NM_013352.4(DSE):c.53G>T (p.Cys18Phe) rs76186865
NM_013352.4(DSE):c.711G>C (p.Leu237=) rs140034597
NM_014244.5(ADAMTS2):c.*1247C>T rs77506744
NM_014244.5(ADAMTS2):c.*1468A>G rs2059776
NM_014244.5(ADAMTS2):c.*1486C>A rs1863918
NM_014244.5(ADAMTS2):c.*1586A>G rs888760
NM_014244.5(ADAMTS2):c.*1719T>C
NM_014244.5(ADAMTS2):c.*1819G>A rs115989271
NM_014244.5(ADAMTS2):c.*212A>C rs10479525
NM_014244.5(ADAMTS2):c.*2301C>T rs115104288
NM_014244.5(ADAMTS2):c.*2396C>T rs3797615
NM_014244.5(ADAMTS2):c.*2439C>T rs78886769
NM_014244.5(ADAMTS2):c.*288G>A rs59090242
NM_014244.5(ADAMTS2):c.*2918G>A rs60250623
NM_014244.5(ADAMTS2):c.*2951G>A rs1044205
NM_014244.5(ADAMTS2):c.*2952T>A rs1044209
NM_014244.5(ADAMTS2):c.*445G>A rs73806886
NM_014244.5(ADAMTS2):c.*534G>A
NM_014244.5(ADAMTS2):c.*842T>C rs10038484
NM_014244.5(ADAMTS2):c.*847C>T rs78622875
NM_014244.5(ADAMTS2):c.*853G>T rs17666900
NM_014244.5(ADAMTS2):c.1122C>T (p.Ser374=) rs145109914
NM_014244.5(ADAMTS2):c.1194C>T (p.Asp398=) rs2278221
NM_014244.5(ADAMTS2):c.1238+18G>A rs2278222
NM_014244.5(ADAMTS2):c.1281C>T (p.Asp427=) rs34424371
NM_014244.5(ADAMTS2):c.1308G>A (p.Ala436=) rs41285549
NM_014244.5(ADAMTS2):c.1458C>T (p.Tyr486=) rs61757478
NM_014244.5(ADAMTS2):c.1488C>T (p.Phe496=) rs147438064
NM_014244.5(ADAMTS2):c.1512G>A (p.Thr504=) rs141369064
NM_014244.5(ADAMTS2):c.1596C>G (p.Pro532=) rs766855796
NM_014244.5(ADAMTS2):c.1629+9G>A rs115550684
NM_014244.5(ADAMTS2):c.1630-18T>C rs2303638
NM_014244.5(ADAMTS2):c.1644A>G (p.Gly548=) rs61731454
NM_014244.5(ADAMTS2):c.1695C>T (p.Gly565=) rs116708837
NM_014244.5(ADAMTS2):c.1803G>A (p.Ser601=) rs76754323
NM_014244.5(ADAMTS2):c.1908C>T (p.His636=) rs1862211
NM_014244.5(ADAMTS2):c.1993G>A (p.Gly665Arg) rs35372714
NM_014244.5(ADAMTS2):c.2028C>T (p.Asp676=) rs1972715
NM_014244.5(ADAMTS2):c.2073C>T (p.Arg691=) rs149391669
NM_014244.5(ADAMTS2):c.2085+11A>G rs139255728
NM_014244.5(ADAMTS2):c.2100C>T (p.Asp700=) rs560354978
NM_014244.5(ADAMTS2):c.220G>A (p.Val74Met) rs2271211
NM_014244.5(ADAMTS2):c.2291-8A>G rs140401199
NM_014244.5(ADAMTS2):c.2439C>T (p.His813=) rs141661592
NM_014244.5(ADAMTS2):c.2480G>A (p.Arg827Gln) rs35445112
NM_014244.5(ADAMTS2):c.2532C>T (p.Asp844=) rs2303644
NM_014244.5(ADAMTS2):c.2730A>G (p.Pro910=) rs6869261
NM_014244.5(ADAMTS2):c.2751-4G>A rs112155474
NM_014244.5(ADAMTS2):c.2763C>T (p.Gly921=) rs144797464
NM_014244.5(ADAMTS2):c.2959-17C>T rs2303641
NM_014244.5(ADAMTS2):c.3014C>T (p.Ala1005Val) rs79330641
NM_014244.5(ADAMTS2):c.321T>C (p.Ser107=) rs2271212
NM_014244.5(ADAMTS2):c.3279T>C (p.Cys1093=) rs73806887
NM_014244.5(ADAMTS2):c.3480C>A (p.Ala1160=) rs34437036
NM_014244.5(ADAMTS2):c.3506G>T (p.Gly1169Val) rs117187367
NM_014244.5(ADAMTS2):c.3529C>T (p.Pro1177Ser) rs1054480
NM_014244.5(ADAMTS2):c.423C>T (p.Gly141=) rs755099137
NM_014244.5(ADAMTS2):c.47_49TGC[9] (p.Leu23dup) rs568040559
NM_014244.5(ADAMTS2):c.534+9G>C rs2271213
NM_014244.5(ADAMTS2):c.596C>T (p.Ala199Val) rs76704342
NM_014244.5(ADAMTS2):c.68T>C (p.Leu23Pro) rs565885690
NM_014244.5(ADAMTS2):c.701A>G (p.Asp234Gly) rs59567206
NM_014244.5(ADAMTS2):c.722G>A (p.Arg241His) rs11750821
NM_014244.5(ADAMTS2):c.733G>A (p.Val245Ile) rs398829
NM_014244.5(ADAMTS2):c.764G>A (p.Arg255Gln) rs117222015
NM_014244.5(ADAMTS2):c.786G>A (p.Ala262=) rs423552
NM_014244.5(ADAMTS2):c.789C>T (p.Asp263=) rs144235544
NM_014244.5(ADAMTS2):c.798C>T (p.Tyr266=) rs139249329
NM_014244.5(ADAMTS2):c.80_100dup (p.Leu27_Pro33dup) rs1064794627
NM_014244.5(ADAMTS2):c.858C>T (p.His286=) rs66565583
NM_014244.5(ADAMTS2):c.936C>T (p.Asn312=) rs35462609
NM_014874.3(MFN2):c.-212T>C rs2180183
NM_014874.3(MFN2):c.-367A>G rs2236054
NM_017946.4(FKBP14):c.123G>A (p.Lys41=) rs149485427
NM_017946.4(FKBP14):c.165C>T (p.Tyr55=) rs17150692
NM_017946.4(FKBP14):c.246G>A (p.Leu82=) rs188844900
NM_017946.4(FKBP14):c.330C>T (p.Gly110=) rs148034796
NM_017946.4(FKBP14):c.34C>G (p.Leu12Val) rs112905680
NM_017946.4(FKBP14):c.375G>C (p.Leu125=) rs143268242
NM_017946.4(FKBP14):c.48_50del (p.Leu17del) rs564626031
NM_017946.4(FKBP14):c.495G>A (p.Lys165=) rs142474407
NM_018699.3(PRDM5):c.1031-12dup rs35363618
NM_018699.3(PRDM5):c.1234T>C (p.Leu412=) rs12499000
NM_018699.3(PRDM5):c.681A>G (p.Leu227=) rs343192
NM_018699.3(PRDM5):c.743+14G>A rs185567213
NM_080605.4(B3GALT6):c.109G>A (p.Gly37Arg) rs867336520
NM_080605.4(B3GALT6):c.22_36dup (p.Trp8_Ala12dup) rs1553151151
NM_080605.4(B3GALT6):c.388G>A (p.Glu130Lys) rs777778007
NM_080605.4(B3GALT6):c.457C>A (p.Leu153Ile) rs142820961
NM_080605.4(B3GALT6):c.483G>A (p.Ala161=) rs373668725
NM_130468.3(CHST14):c.288G>A (p.Arg96=) rs371684007
NM_130468.3(CHST14):c.635T>C (p.Val212Ala) rs144629123
NM_130468.3(CHST14):c.807T>C (p.Asp269=) rs139229738

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