ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4583
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HGVS dbSNP
COL1A2, EX6DEL
COL1A2, IVS6DS, G-A, -1
COL3A1, GLY373ARG
GRCh37/hg19 9q34.3(chr9:137496881-137648441)
NC_000001.10:g.(?_1146915)_(1168668_?)dup
NC_000001.10:g.(?_11994817)_(11994932_?)dup
NC_000001.10:g.(?_12020693)_(12027158_?)dup
NC_000001.10:g.(?_12020703)_(12027148_?)dup
NC_000001.11:g.(11959822_11959973)_(11968469_11968718)dup
NC_000001.11:g.(?_1013554)_(1313808_?)del
NC_000001.11:g.(?_11934770)_(11934865_?)dup
NC_000001.11:g.(?_11949763)_(11952745_?)del
NC_000001.11:g.(?_11960646)_(11960767_?)del
NC_000002.11:g.(?_189839196)_(189839314_?)dup
NC_000002.11:g.(?_189852807)_(189855783_?)dup
NC_000002.12:g.(?_188974470)_(189580480_?)del
NC_000002.12:g.(?_188974480)_(189580648_?)del
NC_000002.12:g.(?_189078506)_(189081053_?)del
NC_000002.12:g.(?_189100087)_(189100159_?)del
NC_000002.12:g.188974372T>G
NC_000005.10:g.(?_179113857)_(179345338_?)dup
NC_000005.10:g.(?_179121651)_(179122783_?)del
NC_000005.10:g.(?_179272901)_(179273074_?)del
NC_000005.10:g.(?_179343757)_(179345338_?)dup
NC_000005.10:g.179207713del
NC_000005.9:g.(?_178770748)_(178772349_?)dup
NC_000007.13:g.(?_94037139)_(94037712_?)dup
NC_000007.13:g.(?_94037139)_(94038155_?)dup
NC_000007.14:g.(?_30010573)_(30014903_?)del
NC_000007.14:g.(?_94395012)_(94395818_?)del
NC_000007.14:g.(?_94395012)_(94399104_?)del
NC_000007.14:g.(?_94395022)_(94585525_?)dup
NC_000007.14:g.94394614G>A
NC_000007.14:g.94394635A>T
NC_000007.14:g.94394768C>A
NC_000007.14:g.94394828T>G
NC_000007.14:g.94394838C>T
NC_000007.14:g.94394880G>A
NC_000007.14:g.94394882G>C
NC_000009.11:g.(?_134379574)_(138678377_?)dup
NC_000009.11:g.(?_137533651)_(137534142_?)dup
NC_000009.11:g.(?_137582738)_(137593199_?)dup
NC_000009.11:g.(?_137721802)_(137734169_?)dup
NC_000009.12:g.(?_134642178)_(134701343_?)del
NC_000009.12:g.(?_134642178)_(134768473_?)del
NC_000009.12:g.(?_134690892)_(134691099_?)del
NC_000009.12:g.(?_134690892)_(134763757_?)del
NC_000009.12:g.(?_134690902)_(134727407_?)del
NC_000009.12:g.(?_134699889)_(134700142_?)del
NC_000009.12:g.(?_134701171)_(134835204_?)del
NC_000009.12:g.(?_134727246)_(134728827_?)del
NC_000009.12:g.(?_134752569)_(134752665_?)del
NC_000009.12:g.(?_134782657)_(134842313_?)del
NC_000009.12:g.(?_134789143)_(134789218_?)dup
NC_000009.12:g.(?_134834951)_(134835224_?)del
NC_000009.12:g.(?_134842137)_(134842323_?)del
NC_000009.12:g.(?_134842147)_(134842313_?)del
NC_000009.12:g.134785996dup
NC_000009.12:g.134824601del rs1588597744
NC_000023.10:g.(?_153576900)_(153599729_?)del
NC_000023.10:g.(?_153577197)_(153579429_?)dup
NC_000023.10:g.(?_153577197)_(153599633_?)dup
NC_000023.10:g.(?_153577197)_(153609577_?)dup
NC_000023.10:g.(?_153577207)_(153599623_?)dup
NC_000023.10:g.(?_153577207)_(153609567_?)dup
NC_000023.10:g.(?_153577207)_(153642537_?)dup
NC_000023.10:g.(?_153577207)_(153650075_?)dup
NC_000023.10:g.(?_153579929)_(153649363_?)dup
NG_007404.1:g.31358_38084del
NG_007404.1:g.32133_36640del
NG_023212.2:g.(6563_77264)_(169258_191449)del
NM_000088.3(COL1A1):c.*1087C>T rs557843360
NM_000088.3(COL1A1):c.*1165C>G rs149419718
NM_000088.3(COL1A1):c.*1175T>G rs75713851
NM_000088.3(COL1A1):c.*1205C>G rs551536386
NM_000088.3(COL1A1):c.*1233G>A rs73987442
NM_000088.3(COL1A1):c.*1265C>T rs567249120
NM_000088.3(COL1A1):c.*1324A>G rs886053140
NM_000088.3(COL1A1):c.*194G>A rs886053158
NM_000088.3(COL1A1):c.*202A>G rs564917505
NM_000088.3(COL1A1):c.*21G>C rs201085309
NM_000088.3(COL1A1):c.*378C>G rs148131473
NM_000088.3(COL1A1):c.*437A>C rs886053150
NM_000088.3(COL1A1):c.*623G>A rs886053149
NM_000088.3(COL1A1):c.*631G>A rs569577942
NM_000088.3(COL1A1):c.*682C>T rs77720683
NM_000088.3(COL1A1):c.*733G>A rs886053148
NM_000088.3(COL1A1):c.*744C>T rs1061947
NM_000088.3(COL1A1):c.*795C>T rs886053147
NM_000088.3(COL1A1):c.*815A>G rs886053146
NM_000088.3(COL1A1):c.*88T>C rs1061237
NM_000088.3(COL1A1):c.*981G>C rs574167621
NM_000088.3(COL1A1):c.-115G>A rs886053164
NM_000088.3(COL1A1):c.-23G>A rs200689194
NM_000088.3(COL1A1):c.-66G>A rs565562045
NM_000088.3(COL1A1):c.-98G>C rs574683904
NM_000088.3(COL1A1):c.1002+10G>T rs368316440
NM_000088.3(COL1A1):c.1005T>A (p.Gly335=) rs375914028
NM_000088.3(COL1A1):c.1042G>A (p.Ala348Thr) rs139955975
NM_000088.3(COL1A1):c.1233C>T (p.Phe411=) rs776387246
NM_000088.3(COL1A1):c.1243C>T (p.Arg415Ter) rs72648326
NM_000088.3(COL1A1):c.1249C>G (p.Pro417Ala) rs72648327
NM_000088.3(COL1A1):c.1249C>T (p.Pro417Ser) rs72648327
NM_000088.3(COL1A1):c.1269C>T (p.Pro423=) rs149301001
NM_000088.3(COL1A1):c.1299+1G>A rs66490707
NM_000088.3(COL1A1):c.1300-8C>G rs41317361
NM_000088.3(COL1A1):c.1300-8C>T rs41317361
NM_000088.3(COL1A1):c.1375C>A (p.Pro459Thr) rs751299130
NM_000088.3(COL1A1):c.1461+13G>T rs371161009
NM_000088.3(COL1A1):c.1615-4C>A rs41316657
NM_000088.3(COL1A1):c.1669-10C>A rs886053162
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.1821+1G>A rs66555264
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.1888G>A (p.Glu630Lys) rs775106436
NM_000088.3(COL1A1):c.1910C>G (p.Ala637Gly) rs886053161
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.1984-5C>A rs66592376
NM_000088.3(COL1A1):c.2089C>T (p.Arg697Ter) rs72651642
NM_000088.3(COL1A1):c.2116G>A (p.Asp706Asn) rs372215246
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.2362G>A (p.Gly788Ser) rs67879854
NM_000088.3(COL1A1):c.2467C>G (p.Pro823Ala) rs1800214
NM_000088.3(COL1A1):c.251C>G (p.Ala84Gly) rs775095655
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.2743C>T (p.Pro915Ser) rs756337302
NM_000088.3(COL1A1):c.2845C>T (p.Pro949Ser) rs1434279534
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.3040C>T (p.Arg1014Cys) rs72653170
NM_000088.3(COL1A1):c.3099+7T>C rs201682029
NM_000088.3(COL1A1):c.3099+7T>G rs201682029
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.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.3580G>A (p.Ala1194Thr) rs769571473
NM_000088.3(COL1A1):c.3630C>T (p.His1210=) rs745320719
NM_000088.3(COL1A1):c.3733A>T (p.Ile1245Phe) rs199514372
NM_000088.3(COL1A1):c.3766G>A (p.Ala1256Thr) rs148216434
NM_000088.3(COL1A1):c.3815-12G>T rs201066018
NM_000088.3(COL1A1):c.3897C>T (p.Cys1299=) rs34940368
NM_000088.3(COL1A1):c.4092G>A (p.Gln1364=) rs886053160
NM_000088.3(COL1A1):c.4140G>C (p.Gln1380His) rs886053159
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.4196G>A (p.Arg1399His) rs146035171
NM_000088.3(COL1A1):c.4249-12G>A rs2249492
NM_000088.3(COL1A1):c.4339G>A (p.Val1447Ile) rs367952133
NM_000088.3(COL1A1):c.4372G>A (p.Val1458Ile) rs138557594
NM_000088.3(COL1A1):c.472-1G>A rs72667020
NM_000088.3(COL1A1):c.472-2A>T rs72667019
NM_000088.3(COL1A1):c.528C>T (p.Ser176=) rs748856187
NM_000088.3(COL1A1):c.543G>A (p.Met181Ile) rs72667022
NM_000088.3(COL1A1):c.613C>G (p.Pro205Ala) rs72667032
NM_000088.3(COL1A1):c.627C>T (p.Gly209=) rs201136122
NM_000088.3(COL1A1):c.649A>T (p.Met217Leu) rs763409550
NM_000088.3(COL1A1):c.658C>T (p.Arg220Ter) rs72667036
NM_000088.3(COL1A1):c.750+12G>T rs79480112
NM_000088.3(COL1A1):c.77G>A (p.Gly26Asp) rs151171179
NM_000088.3(COL1A1):c.859-14T>G rs17639446
NM_000088.3(COL1A1):c.904-9G>T rs141726413
NM_000088.3(COL1A1):c.934C>T (p.Arg312Cys) rs72645347
NM_000088.3(COL1A1):c.957+15C>T rs779096006
NM_000088.3(COL1A1):c.985G>C (p.Gly329Arg) rs1555574303
NM_000088.3(COL1A1):c.994G>A (p.Gly332Arg) rs72645357
NM_000088.4(COL1A1):c.*1011T>C
NM_000088.4(COL1A1):c.*1027G>T
NM_000088.4(COL1A1):c.*1088G>A
NM_000088.4(COL1A1):c.*1151C>T
NM_000088.4(COL1A1):c.*120T>C
NM_000088.4(COL1A1):c.*1316C>G
NM_000088.4(COL1A1):c.*285C>A
NM_000088.4(COL1A1):c.*342C>A
NM_000088.4(COL1A1):c.*356T>A
NM_000088.4(COL1A1):c.*502C>T
NM_000088.4(COL1A1):c.*548C>A
NM_000088.4(COL1A1):c.*73C>A
NM_000088.4(COL1A1):c.*836C>T
NM_000088.4(COL1A1):c.*837G>A
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.1155+12C>T
NM_000088.4(COL1A1):c.1272C>T (p.Gly424=)
NM_000088.4(COL1A1):c.1492G>A (p.Ala498Thr)
NM_000088.4(COL1A1):c.1554C>A (p.Gly518=)
NM_000088.4(COL1A1):c.1615-14C>T
NM_000088.4(COL1A1):c.2168C>T (p.Ala723Val) rs561374961
NM_000088.4(COL1A1):c.2320C>G (p.Pro774Ala)
NM_000088.4(COL1A1):c.2424C>T (p.Pro808=)
NM_000088.4(COL1A1):c.2796C>T (p.Gly932=)
NM_000088.4(COL1A1):c.3247G>A (p.Ala1083Thr)
NM_000088.4(COL1A1):c.3278G>A (p.Arg1093His) rs781491172
NM_000088.4(COL1A1):c.3333T>C (p.Arg1111=) rs372044347
NM_000088.4(COL1A1):c.3619G>A (p.Glu1207Lys)
NM_000088.4(COL1A1):c.3755G>A (p.Arg1252His)
NM_000088.4(COL1A1):c.3815-10C>T
NM_000088.4(COL1A1):c.385C>T (p.Pro129Ser)
NM_000088.4(COL1A1):c.3987C>T (p.Ser1329=)
NM_000088.4(COL1A1):c.4197C>T (p.Arg1399=) rs757759451
NM_000088.4(COL1A1):c.4276G>A (p.Val1426Met)
NM_000088.4(COL1A1):c.462C>T (p.Gly154=) rs41317351
NM_000088.4(COL1A1):c.804+15A>C
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.*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.1020_1031del rs1584319451
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.1036-3T>C rs370275593
NM_000089.3(COL1A2):c.1045G>T (p.Gly349Cys) rs66773001
NM_000089.3(COL1A2):c.1048C>T (p.Pro350Ser) rs201463779
NM_000089.3(COL1A2):c.1051G>A (p.Ala351Thr) rs755610740
NM_000089.3(COL1A2):c.1072G>A (p.Gly358Ser) rs66619856
NM_000089.3(COL1A2):c.1127G>T (p.Gly376Val) rs67543427
NM_000089.3(COL1A2):c.1148C>A (p.Pro383His) rs193922159
NM_000089.3(COL1A2):c.1186C>T (p.Pro396Ser) rs886062515
NM_000089.3(COL1A2):c.1208G>T (p.Gly403Val) rs1554396271
NM_000089.3(COL1A2):c.1228G>T (p.Ala410Ser) rs1235071648
NM_000089.3(COL1A2):c.122G>A (p.Arg41His) rs139528613
NM_000089.3(COL1A2):c.1246G>A (p.Val416Ile) rs550867796
NM_000089.3(COL1A2):c.1252-6del 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 rs1562897561
NM_000089.3(COL1A2):c.1342G>C (p.Gly448Arg) rs1584320605
NM_000089.3(COL1A2):c.1350+11A>T rs193922160
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 rs369907691
NM_000089.3(COL1A2):c.1446A>C (p.Pro482=) rs412777
NM_000089.3(COL1A2):c.1474A>T (p.Ile492Phe) rs776551401
NM_000089.3(COL1A2):c.1477G>C (p.Gly493Arg) rs1554396612
NM_000089.3(COL1A2):c.1478G>A (p.Gly493Glu) rs72658121
NM_000089.3(COL1A2):c.1503+1G>C rs1554396615
NM_000089.3(COL1A2):c.1513G>A (p.Gly505Ser) rs1554396679
NM_000089.3(COL1A2):c.1514G>C (p.Gly505Ala) rs1554396680
NM_000089.3(COL1A2):c.1522G>A (p.Gly508Ser) rs769600024
NM_000089.3(COL1A2):c.1564C>T (p.Pro522Ser) rs199732595
NM_000089.3(COL1A2):c.1576G>A (p.Gly526Arg) rs72658129
NM_000089.3(COL1A2):c.1611+9T>A rs200333208
NM_000089.3(COL1A2):c.1654C>T (p.Pro552Ser) rs763695362
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.1748G>C (p.Gly583Ala) rs1554396983
NM_000089.3(COL1A2):c.1780C>G (p.Pro594Ala) rs1396856908
NM_000089.3(COL1A2):c.1801G>A (p.Gly601Ser) rs72658143
NM_000089.3(COL1A2):c.1817T>C (p.Ile606Thr) rs757262502
NM_000089.3(COL1A2):c.1866T>C (p.Gly622=) rs765470622
NM_000089.3(COL1A2):c.1870C>G (p.Pro624Ala) rs886062517
NM_000089.3(COL1A2):c.1876G>A (p.Val626Met) rs374878685
NM_000089.3(COL1A2):c.1878G>T (p.Val626=) rs1800238
NM_000089.3(COL1A2):c.1892G>T (p.Gly631Val) rs1584324507
NM_000089.3(COL1A2):c.1908T>A (p.Ser636=) rs1584324517
NM_000089.3(COL1A2):c.1964G>A (p.Gly655Glu) rs1554397275
NM_000089.3(COL1A2):c.1971+3A>T rs756587993
NM_000089.3(COL1A2):c.1971+5G>A rs375027186
NM_000089.3(COL1A2):c.1971+6T>C rs1345215762
NM_000089.3(COL1A2):c.1976A>G (p.Glu659Gly) rs766488808
NM_000089.3(COL1A2):c.2023C>T (p.Arg675Cys) rs778295967
NM_000089.3(COL1A2):c.2025+9A>G rs368837694
NM_000089.3(COL1A2):c.2078G>A (p.Arg693Gln) rs34147460
NM_000089.3(COL1A2):c.2079+3A>G rs1226079110
NM_000089.3(COL1A2):c.2082C>A (p.Gly694=) rs193229878
NM_000089.3(COL1A2):c.2098G>C (p.Gly700Arg) rs72658160
NM_000089.3(COL1A2):c.2098G>T (p.Gly700Cys) rs72658160
NM_000089.3(COL1A2):c.2123G>A (p.Arg708Gln) rs72658163
NM_000089.3(COL1A2):c.2123G>C (p.Arg708Pro) rs72658163
NM_000089.3(COL1A2):c.2133+6T>A rs72658164
NM_000089.3(COL1A2):c.2133+8A>C rs1554397570
NM_000089.3(COL1A2):c.2148_2156delinsACGTGG (p.Val717_Pro719delinsArgGly) rs1584326175
NM_000089.3(COL1A2):c.2163C>T (p.Gly721=) rs150670521
NM_000089.3(COL1A2):c.2168A>G (p.Asn723Ser) rs189374343
NM_000089.3(COL1A2):c.2168A>T (p.Asn723Ile) rs189374343
NM_000089.3(COL1A2):c.2242G>A (p.Gly748Ser) rs1562905246
NM_000089.3(COL1A2):c.226-1G>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.2278G>A (p.Gly760Arg) rs1584326393
NM_000089.3(COL1A2):c.2313C>T (p.Pro771=) rs144837722
NM_000089.3(COL1A2):c.2314G>A (p.Gly772Ser) rs72658185
NM_000089.3(COL1A2):c.2329C>T (p.Arg777Cys) rs779108678
NM_000089.3(COL1A2):c.2405G>T (p.Gly802Val) rs1562906013
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) rs72658194
NM_000089.3(COL1A2):c.2527G>A (p.Ala843Thr) rs112697991
NM_000089.3(COL1A2):c.2531G>C (p.Gly844Ala) rs928361235
NM_000089.3(COL1A2):c.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.2596C>G (p.Leu866Val) rs538945650
NM_000089.3(COL1A2):c.2663C>G (p.Ala888Gly) rs752453618
NM_000089.3(COL1A2):c.2673+10T>A rs747098214
NM_000089.3(COL1A2):c.2700C>T (p.Ala900=) rs141688356
NM_000089.3(COL1A2):c.2713G>T (p.Ala905Ser) rs1344095248
NM_000089.3(COL1A2):c.2717G>A (p.Arg906His) rs147063981
NM_000089.3(COL1A2):c.2719G>A (p.Gly907Ser) rs1554398251
NM_000089.3(COL1A2):c.2754C>T (p.Asn918=) rs375719762
NM_000089.3(COL1A2):c.2756G>A (p.Gly919Asp) rs1554398261
NM_000089.3(COL1A2):c.279+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.280-8C>T rs371996944
NM_000089.3(COL1A2):c.2835+1G>A rs72659310
NM_000089.3(COL1A2):c.2842C>A (p.Arg948Ser) rs779303344
NM_000089.3(COL1A2):c.2843G>A (p.Arg948His) rs201168934
NM_000089.3(COL1A2):c.2853T>C (p.Pro951=) rs148362963
NM_000089.3(COL1A2):c.2861T>C (p.Ile954Thr) rs538844573
NM_000089.3(COL1A2):c.286A>G (p.Met96Val) rs763509640
NM_000089.3(COL1A2):c.2904C>T (p.Pro968=) rs142352627
NM_000089.3(COL1A2):c.292C>T (p.Pro98Ser) rs765868569
NM_000089.3(COL1A2):c.293dup (p.Pro98_Arg99insTer) rs797044459
NM_000089.3(COL1A2):c.2943+1G>C rs1562907190
NM_000089.3(COL1A2):c.2957C>T (p.Pro986Leu) rs768171831
NM_000089.3(COL1A2):c.2960T>C (p.Val987Ala) rs1584330105
NM_000089.3(COL1A2):c.2968G>T (p.Ala990Ser) rs367848162
NM_000089.3(COL1A2):c.298G>A (p.Gly100Ser) rs1410254723
NM_000089.3(COL1A2):c.2997+6T>A rs1584330154
NM_000089.3(COL1A2):c.299G>T (p.Gly100Val) rs1584315950
NM_000089.3(COL1A2):c.3014G>A (p.Arg1005His) rs200357942
NM_000089.3(COL1A2):c.3018C>T (p.Gly1006=) rs62001059
NM_000089.3(COL1A2):c.3047C>A (p.Pro1016His) rs377278762
NM_000089.3(COL1A2):c.304C>T (p.Pro102Ser) rs189557655
NM_000089.3(COL1A2):c.3102C>T (p.Ile1034=) rs768455635
NM_000089.3(COL1A2):c.3106G>T (p.Gly1036Cys) rs72659325
NM_000089.3(COL1A2):c.3135C>T (p.Gly1045=) rs1800248
NM_000089.3(COL1A2):c.3139G>A (p.Val1047Met) rs35820023
NM_000089.3(COL1A2):c.3209A>C (p.His1070Pro) rs767399660
NM_000089.3(COL1A2):c.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.3319G>T (p.Gly1107Cys) rs745396382
NM_000089.3(COL1A2):c.3336C>T (p.Tyr1112=) rs34691365
NM_000089.3(COL1A2):c.3338A>C (p.Asp1113Ala) rs1562908093
NM_000089.3(COL1A2):c.334G>A (p.Gly112Ser) rs1554395411
NM_000089.3(COL1A2):c.3368G>A (p.Arg1123His) rs145541630
NM_000089.3(COL1A2):c.3368G>T (p.Arg1123Leu) rs145541630
NM_000089.3(COL1A2):c.3495C>G (p.Asp1165Glu) rs72659340
NM_000089.3(COL1A2):c.3526+4G>A rs1284156162
NM_000089.3(COL1A2):c.3566A>G (p.Asp1189Gly) rs754575611
NM_000089.3(COL1A2):c.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.378+6T>C rs752336890
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) rs775850964
NM_000089.3(COL1A2):c.3849T>C (p.Thr1283=) rs34038163
NM_000089.3(COL1A2):c.3853A>C (p.Asn1285His) rs144797861
NM_000089.3(COL1A2):c.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.3954+8A>G rs747626670
NM_000089.3(COL1A2):c.398G>T (p.Gly133Val) rs1562899031
NM_000089.3(COL1A2):c.4036C>T (p.Pro1346Ser) rs369008932
NM_000089.3(COL1A2):c.4063G>T (p.Glu1355Ter) rs760626067
NM_000089.3(COL1A2):c.430G>A (p.Asp144Asn) rs981008420
NM_000089.3(COL1A2):c.432+1G>A rs1554395431
NM_000089.3(COL1A2):c.433-2A>C rs1554395471
NM_000089.3(COL1A2):c.433-2A>G rs1554395471
NM_000089.3(COL1A2):c.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.577G>A (p.Gly193Ser) rs72656370
NM_000089.3(COL1A2):c.582T>G (p.Ala194=) rs144540908
NM_000089.3(COL1A2):c.586G>A (p.Gly196Ser) rs1057517953
NM_000089.3(COL1A2):c.595-2A>G rs72656375
NM_000089.3(COL1A2):c.638_639+6del rs1562900123
NM_000089.3(COL1A2):c.647G>A (p.Arg216His) rs756743425
NM_000089.3(COL1A2):c.671G>A (p.Arg224His) rs771139732
NM_000089.3(COL1A2):c.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.731G>A (p.Gly244Asp) rs1584318303
NM_000089.3(COL1A2):c.749G>T (p.Gly250Val) rs1562900513
NM_000089.3(COL1A2):c.767G>T (p.Gly256Val) rs67525025
NM_000089.3(COL1A2):c.781C>A (p.Pro261Thr) rs141075408
NM_000089.3(COL1A2):c.781C>G (p.Pro261Ala) rs141075408
NM_000089.3(COL1A2):c.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) rs142803502
NM_000089.3(COL1A2):c.956G>A (p.Gly319Glu) rs1554396083
NM_000089.3(COL1A2):c.96+10C>T rs185341110
NM_000089.3(COL1A2):c.964G>A (p.Gly322Ser) rs72656394
NM_000089.3(COL1A2):c.975A>T (p.Gly325=) rs148063325
NM_000089.3(COL1A2):c.981C>T (p.Arg327=) rs141762645
NM_000089.3(COL1A2):c.982G>A (p.Gly328Ser) rs66612022
NM_000089.4(COL1A2):c.*131G>T
NM_000089.4(COL1A2):c.*193C>T
NM_000089.4(COL1A2):c.*329A>G
NM_000089.4(COL1A2):c.*465G>T
NM_000089.4(COL1A2):c.*469A>G
NM_000089.4(COL1A2):c.*545A>G
NM_000089.4(COL1A2):c.*561T>C
NM_000089.4(COL1A2):c.*584A>T
NM_000089.4(COL1A2):c.*601A>G
NM_000089.4(COL1A2):c.*638C>T
NM_000089.4(COL1A2):c.*814A>G
NM_000089.4(COL1A2):c.1006G>T (p.Ala336Ser)
NM_000089.4(COL1A2):c.1015A>G (p.Thr339Ala)
NM_000089.4(COL1A2):c.1041G>A (p.Glu347=) rs1584319702
NM_000089.4(COL1A2):c.1086G>A (p.Glu362=) rs200284501
NM_000089.4(COL1A2):c.1089C>G (p.Pro363=)
NM_000089.4(COL1A2):c.1089C>T (p.Pro363=)
NM_000089.4(COL1A2):c.1101G>A (p.Gly367=) rs1800237
NM_000089.4(COL1A2):c.1107A>G (p.Gln369=)
NM_000089.4(COL1A2):c.114A>G (p.Arg38=)
NM_000089.4(COL1A2):c.1171G>T (p.Gly391Cys)
NM_000089.4(COL1A2):c.1270G>A (p.Gly424Ser)
NM_000089.4(COL1A2):c.1277G>T (p.Ser426Ile)
NM_000089.4(COL1A2):c.1289G>A (p.Gly430Glu)
NM_000089.4(COL1A2):c.1326G>T (p.Gly442=)
NM_000089.4(COL1A2):c.1331C>T (p.Pro444Leu)
NM_000089.4(COL1A2):c.1340T>A (p.Met447Lys)
NM_000089.4(COL1A2):c.1391_1393AAG[1] (p.Glu465del)
NM_000089.4(COL1A2):c.1402G>A (p.Val468Ile)
NM_000089.4(COL1A2):c.1404+1G>C rs67162110
NM_000089.4(COL1A2):c.1446A>T (p.Pro482=)
NM_000089.4(COL1A2):c.1459G>A (p.Gly487Arg)
NM_000089.4(COL1A2):c.1464G>T (p.Glu488Asp)
NM_000089.4(COL1A2):c.1503+1G>A
NM_000089.4(COL1A2):c.150A>C (p.Pro50=) rs369695645
NM_000089.4(COL1A2):c.1516A>C (p.Lys506Gln)
NM_000089.4(COL1A2):c.1535_1543dup (p.His512_Gly514dup)
NM_000089.4(COL1A2):c.1536T>G (p.His512Gln)
NM_000089.4(COL1A2):c.1555C>T (p.Arg519Trp) rs151256720
NM_000089.4(COL1A2):c.1573G>T (p.Asp525Tyr)
NM_000089.4(COL1A2):c.1583A>G (p.Asn528Ser)
NM_000089.4(COL1A2):c.1607C>T (p.Pro536Leu)
NM_000089.4(COL1A2):c.1645C>G (p.Pro549Ala) rs42524
NM_000089.4(COL1A2):c.1645C>T (p.Pro549Ser)
NM_000089.4(COL1A2):c.1686T>A (p.Gly562=)
NM_000089.4(COL1A2):c.1764+1G>T
NM_000089.4(COL1A2):c.1820G>C (p.Gly607Ala)
NM_000089.4(COL1A2):c.1825C>A (p.Arg609=) rs765398195
NM_000089.4(COL1A2):c.1837G>A (p.Gly613Arg)
NM_000089.4(COL1A2):c.1844C>T (p.Pro615Leu)
NM_000089.4(COL1A2):c.1915A>G (p.Ser639Gly)
NM_000089.4(COL1A2):c.2024G>A (p.Arg675His)
NM_000089.4(COL1A2):c.2026-1_2042dup rs1584325529
NM_000089.4(COL1A2):c.2035G>A (p.Gly679Ser) rs1584325552
NM_000089.4(COL1A2):c.2063G>A (p.Gly688Glu)
NM_000089.4(COL1A2):c.2187+14A>G
NM_000089.4(COL1A2):c.2188G>A (p.Gly730Ser)
NM_000089.4(COL1A2):c.2215G>A (p.Gly739Arg)
NM_000089.4(COL1A2):c.2250C>T (p.Asn750=) rs372783567
NM_000089.4(COL1A2):c.2252G>T (p.Gly751Val)
NM_000089.4(COL1A2):c.226-6C>A rs199616511
NM_000089.4(COL1A2):c.2279G>T (p.Gly760Val)
NM_000089.4(COL1A2):c.2296G>C (p.Gly766Arg)
NM_000089.4(COL1A2):c.2305G>T (p.Gly769Cys)
NM_000089.4(COL1A2):c.2330G>A (p.Arg777His)
NM_000089.4(COL1A2):c.2341G>C (p.Gly781Arg)
NM_000089.4(COL1A2):c.2403+7A>G rs751913918
NM_000089.4(COL1A2):c.2422G>A (p.Gly808Ser)
NM_000089.4(COL1A2):c.2465G>A (p.Arg822His)
NM_000089.4(COL1A2):c.2508A>G (p.Ala836=)
NM_000089.4(COL1A2):c.2526C>T (p.Phe842=)
NM_000089.4(COL1A2):c.2565+1G>C
NM_000089.4(COL1A2):c.2565+3_2565+6del rs1584328061
NM_000089.4(COL1A2):c.2569C>A (p.Pro857Thr)
NM_000089.4(COL1A2):c.2645G>A (p.Arg882His)
NM_000089.4(COL1A2):c.2674-3T>G
NM_000089.4(COL1A2):c.2687C>T (p.Pro896Leu)
NM_000089.4(COL1A2):c.2746G>A (p.Gly916Arg)
NM_000089.4(COL1A2):c.279+1G>A rs67398234
NM_000089.4(COL1A2):c.2791G>A (p.Gly931Arg)
NM_000089.4(COL1A2):c.2799T>C (p.Asp933=) rs751960243
NM_000089.4(COL1A2):c.2810G>A (p.Gly937Asp) rs1584329740
NM_000089.4(COL1A2):c.2826C>T (p.Pro942=) rs199580542
NM_000089.4(COL1A2):c.2842C>T (p.Arg948Cys)
NM_000089.4(COL1A2):c.2844C>T (p.Arg948=) rs772555004
NM_000089.4(COL1A2):c.287T>A (p.Met96Lys)
NM_000089.4(COL1A2):c.2894C>G (p.Pro965Arg)
NM_000089.4(COL1A2):c.2933G>A (p.Arg978His)
NM_000089.4(COL1A2):c.2944G>A (p.Gly982Ser)
NM_000089.4(COL1A2):c.2959G>A (p.Val987Ile)
NM_000089.4(COL1A2):c.2967T>C (p.Pro989=) rs201760437
NM_000089.4(COL1A2):c.2969C>A (p.Ala990Asp)
NM_000089.4(COL1A2):c.3034G>A (p.Gly1012Ser) rs72659319
NM_000089.4(COL1A2):c.3106-11T>C
NM_000089.4(COL1A2):c.3106-5T>C rs374164023
NM_000089.4(COL1A2):c.3124G>A (p.Gly1042Ser)
NM_000089.4(COL1A2):c.3144T>C (p.Gly1048=)
NM_000089.4(COL1A2):c.3200G>A (p.Arg1067His)
NM_000089.4(COL1A2):c.3226C>T (p.Pro1076Ser)
NM_000089.4(COL1A2):c.3239G>A (p.Arg1080Gln)
NM_000089.4(COL1A2):c.3250G>T (p.Gly1084Cys)
NM_000089.4(COL1A2):c.3270C>G (p.Gly1090=)
NM_000089.4(COL1A2):c.3283C>T (p.Pro1095Ser)
NM_000089.4(COL1A2):c.3286G>A (p.Gly1096Ser)
NM_000089.4(COL1A2):c.335G>A (p.Gly112Asp)
NM_000089.4(COL1A2):c.3439G>C (p.Glu1147Gln)
NM_000089.4(COL1A2):c.343G>A (p.Gly115Arg)
NM_000089.4(COL1A2):c.3488G>A (p.Cys1163Tyr)
NM_000089.4(COL1A2):c.3491G>A (p.Arg1164His)
NM_000089.4(COL1A2):c.3493G>A (p.Asp1165Asn)
NM_000089.4(COL1A2):c.3513A>G (p.Pro1171=) rs936707370
NM_000089.4(COL1A2):c.353G>T (p.Gly118Val)
NM_000089.4(COL1A2):c.3625G>A (p.Glu1209Lys) rs267601644
NM_000089.4(COL1A2):c.3647G>T (p.Trp1216Leu)
NM_000089.4(COL1A2):c.367C>A (p.Pro123Thr)
NM_000089.4(COL1A2):c.368C>A (p.Pro123His)
NM_000089.4(COL1A2):c.3699T>C (p.Asn1233=)
NM_000089.4(COL1A2):c.3740C>A (p.Ser1247Tyr)
NM_000089.4(COL1A2):c.3741C>T (p.Ser1247=)
NM_000089.4(COL1A2):c.3748A>G (p.Met1250Val)
NM_000089.4(COL1A2):c.3815G>T (p.Cys1272Phe)
NM_000089.4(COL1A2):c.384T>A (p.Pro128=)
NM_000089.4(COL1A2):c.3868_3869dup (p.Ile1291fs)
NM_000089.4(COL1A2):c.3870C>T (p.Val1290=)
NM_000089.4(COL1A2):c.3879G>T (p.Gln1293His)
NM_000089.4(COL1A2):c.3898C>T (p.Leu1300Phe)
NM_000089.4(COL1A2):c.3949T>C (p.Cys1317Arg)
NM_000089.4(COL1A2):c.3954T>C (p.Ser1318=)
NM_000089.4(COL1A2):c.4078A>G (p.Ile1360Val)
NM_000089.4(COL1A2):c.432+1G>T
NM_000089.4(COL1A2):c.432+4_432+7del rs72656363
NM_000089.4(COL1A2):c.439C>T (p.Pro147Ser)
NM_000089.4(COL1A2):c.526T>C (p.Phe176Leu) rs370234887
NM_000089.4(COL1A2):c.540+5G>A rs72656367
NM_000089.4(COL1A2):c.541G>A (p.Gly181Arg)
NM_000089.4(COL1A2):c.548A>G (p.Asn183Ser)
NM_000089.4(COL1A2):c.593A>G (p.Lys198Arg)
NM_000089.4(COL1A2):c.594+5A>T rs200744314
NM_000089.4(COL1A2):c.639A>G (p.Thr213=)
NM_000089.4(COL1A2):c.71-7T>C rs774842422
NM_000089.4(COL1A2):c.767G>A (p.Gly256Asp)
NM_000089.4(COL1A2):c.776G>C (p.Gly259Ala)
NM_000089.4(COL1A2):c.776G>T (p.Gly259Val) rs1584318648
NM_000089.4(COL1A2):c.809_820del (p.Val270_Ala273del) rs1584318956
NM_000089.4(COL1A2):c.830G>T (p.Gly277Val)
NM_000089.4(COL1A2):c.835G>C (p.Ala279Pro)
NM_000089.4(COL1A2):c.857_875del (p.Gly286fs) rs1584319045
NM_000089.4(COL1A2):c.892-4A>G rs749567968
NM_000089.4(COL1A2):c.909C>T (p.Asn303=) rs985639597
NM_000089.4(COL1A2):c.976C>A (p.Pro326Thr)
NM_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_*800del 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.1024G>A (p.Gly342Arg) rs794728040
NM_000090.3(COL3A1):c.1033G>A (p.Gly345Arg) rs587779419
NM_000090.3(COL3A1):c.1050+6C>T rs528634384
NM_000090.3(COL3A1):c.1052G>T (p.Gly351Val) rs587779498
NM_000090.3(COL3A1):c.1069_1070insACCCTGCAG (p.Gly357_Ser358insAspProAla) 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.1100_1117del (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.1156C>T (p.Pro386Ser) rs757192342
NM_000090.3(COL3A1):c.1165A>T (p.Asn389Tyr) rs200394946
NM_000090.3(COL3A1):c.1173del (p.Pro392fs) rs1553507863
NM_000090.3(COL3A1):c.1188C>T (p.Gly396=) rs745743884
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.1196G>C (p.Gly399Ala) rs1060500194
NM_000090.3(COL3A1):c.1198C>T (p.Pro400Ser) rs1229093142
NM_000090.3(COL3A1):c.1201G>A (p.Ala401Thr) rs373858715
NM_000090.3(COL3A1):c.120G>A (p.Ala40=) rs138115610
NM_000090.3(COL3A1):c.121G>A (p.Asp41Asn) rs794728035
NM_000090.3(COL3A1):c.1231G>C (p.Gly411Arg) rs587779534
NM_000090.3(COL3A1):c.1234G>T (p.Ala412Ser) rs768314657
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.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.1336C>T (p.Arg446Cys) rs1238066761
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.1347+6T>C rs373343032
NM_000090.3(COL3A1):c.1348-4del rs758567906
NM_000090.3(COL3A1):c.1348-4dup rs758567906
NM_000090.3(COL3A1):c.134G>A (p.Trp45Ter) rs1559052609
NM_000090.3(COL3A1):c.1351G>A (p.Glu451Lys) rs1559056438
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.1410del (p.Gly471fs) rs587779665
NM_000090.3(COL3A1):c.1435C>T (p.Pro479Ser) rs1425504057
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) rs1559056621
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+5A>G rs572863064
NM_000090.3(COL3A1):c.1509+7A>C rs201740954
NM_000090.3(COL3A1):c.1509+7_1509+21del 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.1526G>A (p.Arg509His) rs568986390
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) rs138166497
NM_000090.3(COL3A1):c.1609-17T>G rs1468376126
NM_000090.3(COL3A1):c.1610delG 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.1652del (p.Pro551fs) 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+2dup rs587779537
NM_000090.3(COL3A1):c.1662C>T (p.Pro554=) rs373963384
NM_000090.3(COL3A1):c.1684C>T (p.Arg562Ter) rs375737772
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 rs1559057346
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 rs189483688
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_1769delinsTAAG (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.1787G>A (p.Arg596Gln) rs774632188
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) rs35795890
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.1808del (p.Gly603fs) rs587779594
NM_000090.3(COL3A1):c.1813C>G (p.Gln605Glu) rs764299277
NM_000090.3(COL3A1):c.1815+5G>A rs146652498
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.Asn611fs) rs587779462
NM_000090.3(COL3A1):c.1844G>A (p.Gly615Glu) rs587779634
NM_000090.3(COL3A1):c.1851_1855delinsAG (p.Gly618_Pro619delinsAla) rs1576467133
NM_000090.3(COL3A1):c.1854A>T (p.Gly618=) rs370034518
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+3A>C rs1576467168
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.1869+6T>G rs730880063
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.1885A>G (p.Lys629Glu) rs1466862530
NM_000090.3(COL3A1):c.1886A>G (p.Lys629Arg) rs1553508467
NM_000090.3(COL3A1):c.1895C>T (p.Thr632Ile) rs769039976
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 rs587779475
NM_000090.3(COL3A1):c.1977+10G>A rs768976215
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.1978-6_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.1995C>T (p.Ala665=) rs149093989
NM_000090.3(COL3A1):c.1996G>A (p.Gly666Ser) rs755528878
NM_000090.3(COL3A1):c.1997G>A (p.Gly666Asp) rs121912921
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.2042G>A (p.Gly681Asp) rs1173194734
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>A (p.Gly684Glu) rs587779587
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.2067_2072del (p.Gly690_Ala691del) rs1576468160
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) rs1160258883
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.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.2123G>T (p.Gly708Val) rs111929073
NM_000090.3(COL3A1):c.2131G>A (p.Gly711Ser) rs587779695
NM_000090.3(COL3A1):c.2134_2160del (p.Pro712_Gly720del) rs587779560
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) rs1559058681
NM_000090.3(COL3A1):c.2159G>A (p.Gly720Asp) rs1576468332
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.2229+1G>A rs1576468385
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.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 rs1559058970
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.2287C>T (p.Pro763Ser) rs771671892
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.2337G>A (p.Lys779=) rs587779461
NM_000090.3(COL3A1):c.2351C>A (p.Ala784Asp) rs370292679
NM_000090.3(COL3A1):c.2355C>G (p.Pro785=) rs148901664
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.2381G>A (p.Arg794His) rs1332613006
NM_000090.3(COL3A1):c.2392-3_2395del rs1559059873
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.242T>C (p.Phe81Ser) rs1576460785
NM_000090.3(COL3A1):c.2437G>A (p.Gly813Ser) rs397509369
NM_000090.3(COL3A1):c.2445+2dup 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.2522T>C (p.Val841Ala) rs1466306398
NM_000090.3(COL3A1):c.2534dup (p.Gly846fs) 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+1del 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.Pro854_Gly855insLeuGlyValLysGlyGluArgGlySer) rs1135402747
NM_000090.3(COL3A1):c.2564G>A (p.Gly855Asp) rs587779466
NM_000090.3(COL3A1):c.2569C>T (p.Gln857Ter) rs1559060412
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.2607T>A (p.Pro869=) rs376643618
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.2665A>T (p.Asn889Tyr) rs761469859
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.2773G>A (p.Asp925Asn) rs929526823
NM_000090.3(COL3A1):c.2780G>A (p.Gly927Asp) rs587779432
NM_000090.3(COL3A1):c.2791G>A (p.Glu931Lys) rs1553509193
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) rs1221479337
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.2828del (p.Ala943fs) 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.290G>T (p.Arg97Leu) 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.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_2951delinsAC (p.Gly984Thr) rs1559061242
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+154_3525+223del
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.3040-127_3255+107del
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.3062_3064del (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.3071G>A (p.Arg1024Gln) rs1484867480
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 rs1559061674
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) rs1178112512
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) rs1559061706
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.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.3158G>A (p.Gly1053Asp) rs1576471840
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.3170C>G (p.Pro1057Arg) rs1576471860
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.3200G>A (p.Ser1067Asn) rs886039067
NM_000090.3(COL3A1):c.3201+10C>G rs372405344
NM_000090.3(COL3A1):c.3202-14del rs767971610
NM_000090.3(COL3A1):c.3202-2A>G (p.Gly1068_Pro1085del) rs587779682
NM_000090.3(COL3A1):c.3202G>T (p.Gly1068Cys) rs1559061954
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.3223_3240del (p.Ala1075_Gly1080del) rs587779509
NM_000090.3(COL3A1):c.3228C>T (p.Pro1076=) rs200917999
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.3245G>A (p.Arg1082Gln) rs367754862
NM_000090.3(COL3A1):c.3255+1G>A (p.Gly1068_Pro1085del) rs587779480
NM_000090.3(COL3A1):c.3255+1G>C 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.3266G>T (p.Gly1089Val) 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=) rs752919642
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.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 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.3440C>T (p.Pro1147Leu) rs889877870
NM_000090.3(COL3A1):c.3440_3466del (p.Pro1147_Gly1155del) rs1576472890
NM_000090.3(COL3A1):c.3462T>G (p.Ser1154Arg) rs769100283
NM_000090.3(COL3A1):c.3466C>T (p.His1156Tyr) rs776814693
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.3474_3491dup (p.Ile1160_Pro1165dup) rs1576472935
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.349C>A (p.Pro117Thr) rs1559052973
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.3525+3A>C rs1553509674
NM_000090.3(COL3A1):c.3526-10C>T rs376171095
NM_000090.3(COL3A1):c.3527G>A (p.Gly1176Asp) rs1553509726
NM_000090.3(COL3A1):c.3527_3528GC>AA 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.3537C>A (p.Gly1179=) rs146837092
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.3574G>A (p.Ala1192Thr) rs141587182
NM_000090.3(COL3A1):c.3575_3576insAGGG (p.Pro1193fs) 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.3593G>A (p.Gly1198Asp) rs756858564
NM_000090.3(COL3A1):c.3604G>T (p.Ala1202Ser) rs1270244946
NM_000090.3(COL3A1):c.3607G>A (p.Ala1203Thr) rs550665335
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) rs946156674
NM_000090.3(COL3A1):c.3808C>A (p.Pro1270Thr) rs756724842
NM_000090.3(COL3A1):c.3818A>G (p.Lys1273Arg) rs144614075
NM_000090.3(COL3A1):c.3823+1G>T rs1576473641
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.3966G>A (p.Glu1322=) rs560861999
NM_000090.3(COL3A1):c.3966del (p.Lys1323fs) rs587779490
NM_000090.3(COL3A1):c.3989del (p.Glu1330fs) rs587779647
NM_000090.3(COL3A1):c.3998A>G (p.Asp1333Gly) rs376651720
NM_000090.3(COL3A1):c.4011+1G>T rs112532745
NM_000090.3(COL3A1):c.4012-2A>G rs1559063681
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.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.413del (p.Pro138fs) rs587779707
NM_000090.3(COL3A1):c.4142A>G (p.Gln1381Arg) rs886055334
NM_000090.3(COL3A1):c.4165G>T (p.Ala1389Ser) rs202022204
NM_000090.3(COL3A1):c.4254+3A>G rs376799861
NM_000090.3(COL3A1):c.4254G>A (p.Thr1418=) rs587779565
NM_000090.3(COL3A1):c.4257A>G (p.Lys1419=) rs754723643
NM_000090.3(COL3A1):c.4267G>T (p.Glu1423Ter) rs1553510000
NM_000090.3(COL3A1):c.4286_4287del (p.Val1428_Phe1429insTer) 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) rs138533702
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.4340A>G (p.Tyr1447Cys) rs1407784923
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.4360C>T (p.Gln1454Ter) rs1576474929
NM_000090.3(COL3A1):c.4382G>T (p.Gly1461Val) rs1576474944
NM_000090.3(COL3A1):c.4399T>C (p.Ter1467Gln) rs587779618
NM_000090.3(COL3A1):c.464A>G (p.Tyr155Cys) rs1160176510
NM_000090.3(COL3A1):c.469T>A (p.Ser157Thr) rs1576461726
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.508G>A (p.Ala170Thr) rs374476865
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=) rs754584062
NM_000090.3(COL3A1):c.546C>T (p.Pro182=) rs754584062
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.554C>G (p.Pro185Arg) rs886038977
NM_000090.3(COL3A1):c.555del (p.Gly186fs) rs587779451
NM_000090.3(COL3A1):c.556G>A (p.Gly186Ser) rs587779446
NM_000090.3(COL3A1):c.55A>G (p.Thr19Ala) rs1300339107
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+2dup rs587779524
NM_000090.3(COL3A1):c.582+55_798+320delinsTATGCAAAATCAAAC
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 rs1559053784
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>A (p.Gly195Arg)
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.608del (p.Pro203fs) 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.Gly207_Pro211dup) 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.624A>G (p.Gln208=) rs527415370
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.667C>G (p.Pro223Ala) rs1325737333
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.691-2A>G rs1576463100
NM_000090.3(COL3A1):c.701G>A (p.Gly234Asp) rs587779656
NM_000090.3(COL3A1):c.706C>T (p.Pro236Ser) rs771858477
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.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.766del (p.Ile256fs) rs587779455
NM_000090.3(COL3A1):c.773G>C (p.Gly258Ala) rs1559054653
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.799-6del 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 rs1559052551
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.811C>T (p.Arg271Ter) rs1057521106
NM_000090.3(COL3A1):c.812G>A (p.Arg271Gln) rs112185887
NM_000090.3(COL3A1):c.81del (p.Val28fs) rs1060500200
NM_000090.3(COL3A1):c.826G>A (p.Gly276Ser) rs1576463632
NM_000090.3(COL3A1):c.827G>A (p.Gly276Asp) rs587779644
NM_000090.3(COL3A1):c.827G>T (p.Gly276Val) rs587779644
NM_000090.3(COL3A1):c.836G>A (p.Gly279Asp) rs587779593
NM_000090.3(COL3A1):c.838G>A (p.Ala280Thr) rs142042452
NM_000090.3(COL3A1):c.842C>A (p.Pro281His) rs794728039
NM_000090.3(COL3A1):c.844G>A (p.Gly282Arg) rs587779531
NM_000090.3(COL3A1):c.845G>T (p.Gly282Val) rs1576463663
NM_000090.3(COL3A1):c.852+2T>C rs201314784
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.937_938dup (p.Pro314fs) rs772827388
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 rs1559055162
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.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_3452del];[=/3440_3466del]
NM_000090.4(COL3A1):c.*413T>A
NM_000090.4(COL3A1):c.*508T>C
NM_000090.4(COL3A1):c.*600G>T
NM_000090.4(COL3A1):c.*643G>A
NM_000090.4(COL3A1):c.*72A>G
NM_000090.4(COL3A1):c.*740A>T
NM_000090.4(COL3A1):c.*828G>T
NM_000090.4(COL3A1):c.*906C>G
NM_000090.4(COL3A1):c.1051-13G>A rs371934572
NM_000090.4(COL3A1):c.1133G>A (p.Gly378Asp)
NM_000090.4(COL3A1):c.1150-1_1166delinsCCGTCCTGGGCCCTGGTGGTATACAAACCTGGTATACCACC rs587779612
NM_000090.4(COL3A1):c.119C>T (p.Ala40Val) rs201380807
NM_000090.4(COL3A1):c.1249G>C (p.Gly417Arg)
NM_000090.4(COL3A1):c.1288G>A (p.Gly430Ser)
NM_000090.4(COL3A1):c.1293+15T>A rs2271679
NM_000090.4(COL3A1):c.1295G>A (p.Gly432Asp)
NM_000090.4(COL3A1):c.1322del (p.Gly441fs)
NM_000090.4(COL3A1):c.1334C>T (p.Pro445Leu)
NM_000090.4(COL3A1):c.1347C>T (p.Arg449=)
NM_000090.4(COL3A1):c.1442del (p.Ala481fs)
NM_000090.4(COL3A1):c.1455+4C>T rs1422454033
NM_000090.4(COL3A1):c.1480G>A (p.Ala494Thr)
NM_000090.4(COL3A1):c.1509+2T>C rs1553508039
NM_000090.4(COL3A1):c.1550C>G (p.Pro517Arg)
NM_000090.4(COL3A1):c.1654G>A (p.Gly552Arg)
NM_000090.4(COL3A1):c.1662+14T>A
NM_000090.4(COL3A1):c.1663-94_1663-93insCACACACA rs200204993
NM_000090.4(COL3A1):c.1745G>A (p.Gly582Asp)
NM_000090.4(COL3A1):c.1763G>T (p.Gly588Val)
NM_000090.4(COL3A1):c.1815+4C>T rs757154607
NM_000090.4(COL3A1):c.1816-14G>C rs7579815
NM_000090.4(COL3A1):c.1816-4T>C rs765128089
NM_000090.4(COL3A1):c.183C>T (p.Leu61=) rs753474870
NM_000090.4(COL3A1):c.1851G>A (p.Gln617=) rs7579903
NM_000090.4(COL3A1):c.1873C>T (p.Pro625Ser)
NM_000090.4(COL3A1):c.1891G>A (p.Asp631Asn)
NM_000090.4(COL3A1):c.1895C>A (p.Thr632Lys)
NM_000090.4(COL3A1):c.1910_1911CA[1] (p.Gln638fs) rs1576467391
NM_000090.4(COL3A1):c.193A>G (p.Ile65Val)
NM_000090.4(COL3A1):c.1976C>T (p.Pro659Leu)
NM_000090.4(COL3A1):c.1978-11C>T rs13306272
NM_000090.4(COL3A1):c.1978G>A (p.Gly660Ser)
NM_000090.4(COL3A1):c.1980T>A (p.Gly660=) rs1553508597
NM_000090.4(COL3A1):c.1999G>T (p.Ala667Ser)
NM_000090.4(COL3A1):c.1A>T (p.Met1Leu)
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.2108C>T (p.Pro703Leu)
NM_000090.4(COL3A1):c.2240G>A (p.Gly747Asp)
NM_000090.4(COL3A1):c.2244T>C (p.Gly748=) rs1801184
NM_000090.4(COL3A1):c.2248G>C (p.Gly750Arg)
NM_000090.4(COL3A1):c.2267G>A (p.Gly756Glu) rs1576468562
NM_000090.4(COL3A1):c.2461C>A (p.Pro821Thr)
NM_000090.4(COL3A1):c.2553+7T>C rs951182466
NM_000090.4(COL3A1):c.2605C>A (p.Pro869Thr)
NM_000090.4(COL3A1):c.2608-10C>T rs1217009146
NM_000090.4(COL3A1):c.2623C>T (p.Pro875Ser)
NM_000090.4(COL3A1):c.2678C>T (p.Pro893Leu)
NM_000090.4(COL3A1):c.267A>G (p.Pro89=)
NM_000090.4(COL3A1):c.2690G>A (p.Gly897Asp)
NM_000090.4(COL3A1):c.2726G>A (p.Gly909Asp)
NM_000090.4(COL3A1):c.2749C>T (p.Pro917Ser)
NM_000090.4(COL3A1):c.2797G>A (p.Gly933Arg)
NM_000090.4(COL3A1):c.282+13A>T
NM_000090.4(COL3A1):c.2823+1G>T
NM_000090.4(COL3A1):c.2888G>T (p.Gly963Val)
NM_000090.4(COL3A1):c.289C>T (p.Arg97Cys) rs768671254
NM_000090.4(COL3A1):c.2931+9A>T rs752325298
NM_000090.4(COL3A1):c.2932G>A (p.Gly978Ser)
NM_000090.4(COL3A1):c.2980C>G (p.Pro994Ala)
NM_000090.4(COL3A1):c.3102T>G (p.Arg1034=)
NM_000090.4(COL3A1):c.3121G>C (p.Gly1041Arg)
NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr) rs149722210
NM_000090.4(COL3A1):c.3165C>T (p.Val1055=) rs1576471851
NM_000090.4(COL3A1):c.3202-5C>T
NM_000090.4(COL3A1):c.3214C>T (p.Pro1072Ser)
NM_000090.4(COL3A1):c.3256-1G>A
NM_000090.4(COL3A1):c.3260C>T (p.Pro1087Leu)
NM_000090.4(COL3A1):c.3262C>G (p.Gln1088Glu)
NM_000090.4(COL3A1):c.3271C>A (p.Arg1091Ser)
NM_000090.4(COL3A1):c.3298C>T (p.Arg1100Cys)
NM_000090.4(COL3A1):c.3299G>A (p.Arg1100His)
NM_000090.4(COL3A1):c.333+4A>G
NM_000090.4(COL3A1):c.334-2A>G
NM_000090.4(COL3A1):c.3418-5C>A
NM_000090.4(COL3A1):c.3476C>T (p.Pro1159Leu)
NM_000090.4(COL3A1):c.347T>G (p.Ile116Ser)
NM_000090.4(COL3A1):c.3497G>A (p.Arg1166Gln)
NM_000090.4(COL3A1):c.3523G>A (p.Glu1175Lys)
NM_000090.4(COL3A1):c.3565C>T (p.Pro1189Ser)
NM_000090.4(COL3A1):c.3604G>A (p.Ala1202Thr)
NM_000090.4(COL3A1):c.3613A>G (p.Ile1205Val) rs2271683
NM_000090.4(COL3A1):c.3732A>G (p.Gln1244=)
NM_000090.4(COL3A1):c.3737_3740del (p.Glu1246fs)
NM_000090.4(COL3A1):c.3745A>G (p.Ile1249Val)
NM_000090.4(COL3A1):c.3809C>G (p.Pro1270Arg) rs778419091
NM_000090.4(COL3A1):c.3841C>G (p.Pro1281Ala)
NM_000090.4(COL3A1):c.3868A>C (p.Ile1290Leu)
NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783
NM_000090.4(COL3A1):c.3992C>A (p.Ser1331Tyr)
NM_000090.4(COL3A1):c.4043A>G (p.Asp1348Gly)
NM_000090.4(COL3A1):c.4059T>G (p.His1353Gln) rs1516446
NM_000090.4(COL3A1):c.4189G>A (p.Glu1397Lys)
NM_000090.4(COL3A1):c.4224C>G (p.Phe1408Leu)
NM_000090.4(COL3A1):c.4255-1G>T
NM_000090.4(COL3A1):c.4257A>C (p.Lys1419Asn)
NM_000090.4(COL3A1):c.4284C>A (p.Val1428=) rs746436515
NM_000090.4(COL3A1):c.4323dup (p.Val1442fs)
NM_000090.4(COL3A1):c.4368T>A (p.Phe1456Leu)
NM_000090.4(COL3A1):c.448-1G>T
NM_000090.4(COL3A1):c.553C>G (p.Pro185Ala)
NM_000090.4(COL3A1):c.724C>T (p.Arg242Ter) rs1333421028
NM_000090.4(COL3A1):c.754G>T (p.Gly252Cys) rs587779705
NM_000090.4(COL3A1):c.759A>G (p.Pro253=) rs376198106
NM_000090.4(COL3A1):c.784A>G (p.Met262Val)
NM_000090.4(COL3A1):c.79+2_79+3dup
NM_000090.4(COL3A1):c.799-11A>T
NM_000090.4(COL3A1):c.80-8T>C rs1241543816
NM_000090.4(COL3A1):c.84T>C (p.Val28=) rs752574994
NM_000090.4(COL3A1):c.853-7T>C rs377063305
NM_000090.4(COL3A1):c.862G>T (p.Gly288Cys)
NM_000090.4(COL3A1):c.891A>C (p.Gly297=) rs751603655
NM_000090.4(COL3A1):c.902C>G (p.Pro301Arg)
NM_000090.4(COL3A1):c.913C>T (p.Pro305Ser)
NM_000090.4(COL3A1):c.946G>T (p.Ala316Ser) rs958176385
NM_000090.4(COL3A1):c.955_974delinsTTTACATCGAGGGTTTTAAAGTTTACA (p.Ala319fs) rs587779655
NM_000090.4(COL3A1):c.996A>G (p.Pro332=)
NM_000090.4(COL3A1):c.997G>C (p.Gly333Arg)
NM_000093.4(COL5A1):c.1720-136_1929del
NM_000093.4(COL5A1):c.2389delG rs1564453833
NM_000093.4(COL5A1):c.3259_3366del (p.Ser1088_Gly1123del)
NM_000093.4(COL5A1):c.3746delG rs35002351
NM_000093.4(COL5A1):c.4232delG rs1060502259
NM_000093.4(COL5A1):c.4339-1delG rs786205102
NM_000093.5(COL5A1):c.*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.1011C>G (p.Asp337Glu)
NM_000093.5(COL5A1):c.1074C>T (p.Gly358=) rs561440698
NM_000093.5(COL5A1):c.1093G>A (p.Asp365Asn)
NM_000093.5(COL5A1):c.1094_1095del (p.Asp365fs)
NM_000093.5(COL5A1):c.110-1G>C
NM_000093.5(COL5A1):c.1100C>T (p.Pro367Leu)
NM_000093.5(COL5A1):c.1114G>T (p.Ala372Ser)
NM_000093.5(COL5A1):c.1115C>A (p.Ala372Asp)
NM_000093.5(COL5A1):c.1130C>A (p.Pro377His)
NM_000093.5(COL5A1):c.1134C>T (p.Thr378=) rs373594322
NM_000093.5(COL5A1):c.1157C>T (p.Ser386Phe)
NM_000093.5(COL5A1):c.1165-4G>T
NM_000093.5(COL5A1):c.1190C>T (p.Ala397Val)
NM_000093.5(COL5A1):c.1194_1196delinsG (p.Asp398fs)
NM_000093.5(COL5A1):c.1239C>T (p.Asp413=) rs775974461
NM_000093.5(COL5A1):c.1377G>A (p.Ala459=) rs746091599
NM_000093.5(COL5A1):c.1409C>T (p.Pro470Leu)
NM_000093.5(COL5A1):c.1432G>T (p.Gly478Cys)
NM_000093.5(COL5A1):c.1441G>A (p.Gly481Arg)
NM_000093.5(COL5A1):c.1445C>T (p.Pro482Leu)
NM_000093.5(COL5A1):c.1499C>T (p.Pro500Leu)
NM_000093.5(COL5A1):c.1570-10A>T rs530036079
NM_000093.5(COL5A1):c.1587C>T (p.Gly529=) rs529255491
NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045
NM_000093.5(COL5A1):c.1639C>T (p.Gln547Ter)
NM_000093.5(COL5A1):c.1657G>A (p.Ala553Thr)
NM_000093.5(COL5A1):c.1662+1G>A
NM_000093.5(COL5A1):c.1691T>A (p.Met564Lys)
NM_000093.5(COL5A1):c.16C>G (p.Arg6Gly)
NM_000093.5(COL5A1):c.1720-1G>A
NM_000093.5(COL5A1):c.1750G>A (p.Glu584Lys)
NM_000093.5(COL5A1):c.1825C>T (p.Arg609Trp)
NM_000093.5(COL5A1):c.1828-3C>G
NM_000093.5(COL5A1):c.187G>A (p.Ala63Thr)
NM_000093.5(COL5A1):c.1882-5del rs1554793544
NM_000093.5(COL5A1):c.1889G>A (p.Arg630Gln) rs781667754
NM_000093.5(COL5A1):c.1920C>A (p.Gly640=) rs781663334
NM_000093.5(COL5A1):c.1930C>T (p.His644Tyr)
NM_000093.5(COL5A1):c.1949C>T (p.Pro650Leu)
NM_000093.5(COL5A1):c.1967C>T (p.Pro656Leu) rs748345448
NM_000093.5(COL5A1):c.196C>T (p.Arg66Ter)
NM_000093.5(COL5A1):c.1977C>A (p.Asp659Glu)
NM_000093.5(COL5A1):c.1978G>A (p.Asp660Asn)
NM_000093.5(COL5A1):c.197G>A (p.Arg66Gln)
NM_000093.5(COL5A1):c.1989+1G>C
NM_000093.5(COL5A1):c.2013C>T (p.Pro671=) rs372082908
NM_000093.5(COL5A1):c.2088+4dup
NM_000093.5(COL5A1):c.2092_2093delinsCA (p.Val698His) rs1554796087
NM_000093.5(COL5A1):c.2097G>A (p.Thr699=) rs368590323
NM_000093.5(COL5A1):c.2159del (p.Pro720fs)
NM_000093.5(COL5A1):c.2184C>T (p.Ala728=) rs150993138
NM_000093.5(COL5A1):c.2187+6T>C
NM_000093.5(COL5A1):c.2188-8C>T rs369789387
NM_000093.5(COL5A1):c.2264T>G (p.Met755Arg)
NM_000093.5(COL5A1):c.2293C>T (p.Pro765Ser)
NM_000093.5(COL5A1):c.2553del (p.Asn852fs)
NM_000093.5(COL5A1):c.2647-3C>G
NM_000093.5(COL5A1):c.265C>T (p.Gln89Ter)
NM_000093.5(COL5A1):c.2660del (p.Phe887fs) rs1588551159
NM_000093.5(COL5A1):c.2677G>A (p.Ala893Thr)
NM_000093.5(COL5A1):c.26C>A (p.Ala9Glu)
NM_000093.5(COL5A1):c.2700+191C>T rs183885286
NM_000093.5(COL5A1):c.2715G>T (p.Lys905Asn)
NM_000093.5(COL5A1):c.2726G>A (p.Arg909Gln)
NM_000093.5(COL5A1):c.2735G>A (p.Arg912Gln)
NM_000093.5(COL5A1):c.2831C>T (p.Pro944Leu)
NM_000093.5(COL5A1):c.2951C>G (p.Thr984Ser)
NM_000093.5(COL5A1):c.2986C>T (p.Pro996Ser)
NM_000093.5(COL5A1):c.2992G>A (p.Val998Met)
NM_000093.5(COL5A1):c.2998G>A (p.Gly1000Ser)
NM_000093.5(COL5A1):c.3040C>T (p.Arg1014Cys)
NM_000093.5(COL5A1):c.3041G>A (p.Arg1014His)
NM_000093.5(COL5A1):c.3114+1G>A
NM_000093.5(COL5A1):c.3115-14G>A
NM_000093.5(COL5A1):c.3166C>T (p.Arg1056Cys)
NM_000093.5(COL5A1):c.3167G>A (p.Arg1056His)
NM_000093.5(COL5A1):c.3227A>G (p.Asn1076Ser)
NM_000093.5(COL5A1):c.3297del (p.Ile1101fs)
NM_000093.5(COL5A1):c.3317G>A (p.Arg1106Lys)
NM_000093.5(COL5A1):c.3382C>A (p.Gln1128Lys)
NM_000093.5(COL5A1):c.3429G>A (p.Pro1143=)
NM_000093.5(COL5A1):c.3476G>A (p.Gly1159Glu)
NM_000093.5(COL5A1):c.3583-6dup rs773032514
NM_000093.5(COL5A1):c.3583-7C>G
NM_000093.5(COL5A1):c.3608G>A (p.Arg1203Gln)
NM_000093.5(COL5A1):c.374T>G (p.Ile125Ser)
NM_000093.5(COL5A1):c.3874G>A (p.Glu1292Lys)
NM_000093.5(COL5A1):c.3975C>T (p.Pro1325=) rs951777673
NM_000093.5(COL5A1):c.4050dup (p.Gly1351fs)
NM_000093.5(COL5A1):c.4069-6C>T rs756079712
NM_000093.5(COL5A1):c.4110A>G (p.Glu1370=)
NM_000093.5(COL5A1):c.4111C>G (p.Pro1371Ala)
NM_000093.5(COL5A1):c.4114G>A (p.Gly1372Arg)
NM_000093.5(COL5A1):c.4198C>T (p.Pro1400Ser)
NM_000093.5(COL5A1):c.4289C>G (p.Ala1430Gly)
NM_000093.5(COL5A1):c.432G>T (p.Thr144=)
NM_000093.5(COL5A1):c.4368C>T (p.Gly1456=)
NM_000093.5(COL5A1):c.4372G>A (p.Asp1458Asn) rs577270517
NM_000093.5(COL5A1):c.4375G>A (p.Gly1459Ser)
NM_000093.5(COL5A1):c.4392+8A>G rs764596365
NM_000093.5(COL5A1):c.4464C>A (p.Ile1488=) rs148669237
NM_000093.5(COL5A1):c.4465G>A (p.Gly1489Arg)
NM_000093.5(COL5A1):c.4476_4478TCC[1] (p.Pro1494del)
NM_000093.5(COL5A1):c.4477C>T (p.Pro1493Ser)
NM_000093.5(COL5A1):c.447G>A (p.Pro149=) rs200290973
NM_000093.5(COL5A1):c.453C>G (p.Asp151Glu)
NM_000093.5(COL5A1):c.4555-8C>T rs1393610396
NM_000093.5(COL5A1):c.4568C>A (p.Pro1523His)
NM_000093.5(COL5A1):c.459C>T (p.Pro153=) rs1588448882
NM_000093.5(COL5A1):c.4628del (p.Gly1543fs)
NM_000093.5(COL5A1):c.4657C>T (p.Pro1553Ser)
NM_000093.5(COL5A1):c.4707G>A (p.Pro1569=)
NM_000093.5(COL5A1):c.4814C>G (p.Ala1605Gly)
NM_000093.5(COL5A1):c.4815G>A (p.Ala1605=)
NM_000093.5(COL5A1):c.4818C>T (p.Asp1606=) rs190912679
NM_000093.5(COL5A1):c.4837G>A (p.Gly1613Ser)
NM_000093.5(COL5A1):c.4869G>T (p.Glu1623Asp)
NM_000093.5(COL5A1):c.4942G>A (p.Asp1648Asn)
NM_000093.5(COL5A1):c.4955G>A (p.Gly1652Asp)
NM_000093.5(COL5A1):c.4982G>A (p.Gly1661Glu)
NM_000093.5(COL5A1):c.5041G>A (p.Val1681Ile)
NM_000093.5(COL5A1):c.5065G>A (p.Gly1689Arg)
NM_000093.5(COL5A1):c.5067+1G>A
NM_000093.5(COL5A1):c.5068-9C>T
NM_000093.5(COL5A1):c.508C>G (p.Leu170Val)
NM_000093.5(COL5A1):c.5126G>A (p.Arg1709His)
NM_000093.5(COL5A1):c.5128G>C (p.Gly1710Arg)
NM_000093.5(COL5A1):c.5136_5136+8delinsTGAATTCCCAC
NM_000093.5(COL5A1):c.5154C>A (p.Ala1718=)
NM_000093.5(COL5A1):c.5164C>A (p.Pro1722Thr)
NM_000093.5(COL5A1):c.5194C>T (p.Arg1732Trp)
NM_000093.5(COL5A1):c.5195G>A (p.Arg1732Gln)
NM_000093.5(COL5A1):c.5255G>C (p.Trp1752Ser)
NM_000093.5(COL5A1):c.5267C>G (p.Ala1756Gly)
NM_000093.5(COL5A1):c.5293dup (p.Arg1765fs)
NM_000093.5(COL5A1):c.5350G>T (p.Ala1784Ser)
NM_000093.5(COL5A1):c.5377_5380del (p.Lys1793fs)
NM_000093.5(COL5A1):c.5386C>T (p.Gln1796Ter) rs1588621711
NM_000093.5(COL5A1):c.5411C>G (p.Thr1804Ser)
NM_000093.5(COL5A1):c.5413C>T (p.Pro1805Ser)
NM_000093.5(COL5A1):c.5416A>G (p.Lys1806Glu)
NM_000093.5(COL5A1):c.5426A>C (p.Gln1809Pro)
NM_000093.5(COL5A1):c.5451C>T (p.Phe1817=) rs748940142
NM_000093.5(COL5A1):c.57G>A (p.Leu19=) rs761259908
NM_000093.5(COL5A1):c.582C>T (p.Ser194=) rs563191799
NM_000093.5(COL5A1):c.590C>T (p.Pro197Leu)
NM_000093.5(COL5A1):c.592A>G (p.Met198Val)
NM_000093.5(COL5A1):c.609C>T (p.Gly203=)
NM_000093.5(COL5A1):c.695C>T (p.Ala232Val)
NM_000093.5(COL5A1):c.761C>A (p.Ser254Ter)
NM_000093.5(COL5A1):c.774T>C (p.Asn258=) rs199742873
NM_000093.5(COL5A1):c.801C>T (p.Asp267=) rs778401280
NM_000093.5(COL5A1):c.849del (p.Glu284fs) rs1588477255
NM_000093.5(COL5A1):c.876dup (p.Ser293fs)
NM_000302.3(PLOD1):c.-64C>G rs886045195
NM_000302.3(PLOD1):c.-77G>A rs144465849
NM_000302.3(PLOD1):c.1756_1902del
NM_000302.3(PLOD1):c.[136C>T];[2075C>T]
NM_000302.4(PLOD1):c.*117A>G rs886045210
NM_000302.4(PLOD1):c.*128A>G
NM_000302.4(PLOD1):c.*148C>G rs886045211
NM_000302.4(PLOD1):c.*276T>C rs886045212
NM_000302.4(PLOD1):c.*308C>G rs886045213
NM_000302.4(PLOD1):c.*419C>T rs886045214
NM_000302.4(PLOD1):c.*440G>C rs11553681
NM_000302.4(PLOD1):c.*461G>T
NM_000302.4(PLOD1):c.*528G>A rs886045215
NM_000302.4(PLOD1):c.*614G>T
NM_000302.4(PLOD1):c.*61T>C rs886045209
NM_000302.4(PLOD1):c.*71C>G rs2230899
NM_000302.4(PLOD1):c.*721T>G rs142707437
NM_000302.4(PLOD1):c.-39G>T rs769995450
NM_000302.4(PLOD1):c.-58G>A rs552712043
NM_000302.4(PLOD1):c.-61C>T rs566803699
NM_000302.4(PLOD1):c.1015C>T (p.Gln339Ter) rs1569713366
NM_000302.4(PLOD1):c.1023C>T (p.Gly341=) rs755056846
NM_000302.4(PLOD1):c.1026C>T (p.Ser342=) rs140159343
NM_000302.4(PLOD1):c.1027G>A (p.Glu343Lys)
NM_000302.4(PLOD1):c.1063C>T (p.Arg355Trp) rs775007891
NM_000302.4(PLOD1):c.1064G>A (p.Arg355Gln)
NM_000302.4(PLOD1):c.1083C>T (p.Ala361=) rs1159010003
NM_000302.4(PLOD1):c.1095C>T (p.Gly365=) rs1032781250
NM_000302.4(PLOD1):c.1097C>T (p.Ala366Val) rs377080927
NM_000302.4(PLOD1):c.1098-3C>T rs541901674
NM_000302.4(PLOD1):c.109G>A (p.Glu37Lys) rs369263247
NM_000302.4(PLOD1):c.1108C>T (p.Arg370Trp) rs763065699
NM_000302.4(PLOD1):c.1115A>G (p.Asp372Gly)
NM_000302.4(PLOD1):c.1117C>T (p.Arg373Cys) rs750301725
NM_000302.4(PLOD1):c.1133A>T (p.Tyr378Phe)
NM_000302.4(PLOD1):c.1140C>T (p.Ser380=) rs200131516
NM_000302.4(PLOD1):c.1141G>A (p.Val381Met) rs2230896
NM_000302.4(PLOD1):c.1145A>C (p.Asp382Ala) rs998178222
NM_000302.4(PLOD1):c.115G>A (p.Glu39Lys) rs538407894
NM_000302.4(PLOD1):c.1164C>T (p.Thr388=) rs74949176
NM_000302.4(PLOD1):c.1172A>G (p.Asn391Ser) rs763409574
NM_000302.4(PLOD1):c.1173C>G (p.Asn391Lys)
NM_000302.4(PLOD1):c.117G>A (p.Glu39=) rs779453447
NM_000302.4(PLOD1):c.1180C>T (p.Arg394Trp) rs1428519006
NM_000302.4(PLOD1):c.1182G>C (p.Arg394=) rs144439284
NM_000302.4(PLOD1):c.1202+3G>A rs370358836
NM_000302.4(PLOD1):c.1203-3C>T rs376288573
NM_000302.4(PLOD1):c.1206C>T (p.Asn402=) rs1130529
NM_000302.4(PLOD1):c.1216C>G (p.Pro406Ala) rs760764359
NM_000302.4(PLOD1):c.1216C>T (p.Pro406Ser) rs760764359
NM_000302.4(PLOD1):c.1246T>C (p.Ser416Pro) rs1569721294
NM_000302.4(PLOD1):c.124C>T (p.Arg42Cys) rs202003686
NM_000302.4(PLOD1):c.1255T>C (p.Trp419Arg) rs373446893
NM_000302.4(PLOD1):c.127C>T (p.Arg43Cys) rs778603432
NM_000302.4(PLOD1):c.1288C>T (p.Arg430Cys) rs370790682
NM_000302.4(PLOD1):c.1303G>A (p.Val435Met)
NM_000302.4(PLOD1):c.1321C>T (p.Arg441Trp) rs11553676
NM_000302.4(PLOD1):c.1325G>A (p.Arg442His) rs199567720
NM_000302.4(PLOD1):c.1329-1G>T rs112460511
NM_000302.4(PLOD1):c.1329-20G>A rs78527487
NM_000302.4(PLOD1):c.1334T>G (p.Val445Gly) rs922997919
NM_000302.4(PLOD1):c.1349A>G (p.Tyr450Cys) rs1264798278
NM_000302.4(PLOD1):c.135G>A (p.Lys45=) rs765354146
NM_000302.4(PLOD1):c.137G>A (p.Arg46His) rs142710681
NM_000302.4(PLOD1):c.1387C>T (p.Arg463Trp) rs745946511
NM_000302.4(PLOD1):c.1388G>A (p.Arg463Gln) rs750100311
NM_000302.4(PLOD1):c.1391G>T (p.Gly464Val)
NM_000302.4(PLOD1):c.1427A>G (p.Lys476Arg) rs576907642
NM_000302.4(PLOD1):c.1428G>A (p.Lys476=) rs139869965
NM_000302.4(PLOD1):c.1469A>G (p.Gln490Arg)
NM_000302.4(PLOD1):c.1470+2T>C rs886043927
NM_000302.4(PLOD1):c.1470+5G>A rs1553136223
NM_000302.4(PLOD1):c.1471-8C>T rs201661871
NM_000302.4(PLOD1):c.1471-9C>G rs376476977
NM_000302.4(PLOD1):c.1471-9_1471-8delinsGT rs1553136318
NM_000302.4(PLOD1):c.1473T>C (p.Asp491=) rs139165192
NM_000302.4(PLOD1):c.1479dup (p.Met494fs) rs1569724692
NM_000302.4(PLOD1):c.1482G>C (p.Met494Ile) rs780133138
NM_000302.4(PLOD1):c.1495C>T (p.Arg499Trp) rs149124387
NM_000302.4(PLOD1):c.1511A>G (p.His504Arg) rs555034048
NM_000302.4(PLOD1):c.1530C>T (p.Ser510=) rs1025133534
NM_000302.4(PLOD1):c.1533C>G (p.Tyr511Ter) rs121913552
NM_000302.4(PLOD1):c.1534C>T (p.Arg512Cys) rs138490756
NM_000302.4(PLOD1):c.1543C>T (p.His515Tyr) rs746905101
NM_000302.4(PLOD1):c.1581C>T (p.Pro527=) rs142934642
NM_000302.4(PLOD1):c.1582G>A (p.Glu528Lys) rs112250644
NM_000302.4(PLOD1):c.1584+10G>A
NM_000302.4(PLOD1):c.1594_1596del (p.Glu532del) rs797044446
NM_000302.4(PLOD1):c.1608C>T (p.His536=) rs138289419
NM_000302.4(PLOD1):c.1632A>C (p.Ala544=) rs2230898
NM_000302.4(PLOD1):c.1633G>A (p.Gly545Arg) rs886045204
NM_000302.4(PLOD1):c.1649C>T (p.Thr550Met) rs748526375
NM_000302.4(PLOD1):c.1650G>A (p.Thr550=) rs201999965
NM_000302.4(PLOD1):c.1651-10C>T rs755961387
NM_000302.4(PLOD1):c.1651-2A>C rs565513365
NM_000302.4(PLOD1):c.1651-2A>G rs565513365
NM_000302.4(PLOD1):c.1651-2del rs797044447
NM_000302.4(PLOD1):c.1651C>T (p.Pro551Ser)
NM_000302.4(PLOD1):c.1658C>T (p.Pro553Leu) rs754569828
NM_000302.4(PLOD1):c.1659G>A (p.Pro553=)
NM_000302.4(PLOD1):c.1667A>G (p.Tyr556Cys) rs146360295
NM_000302.4(PLOD1):c.1678A>G (p.Ile560Val) rs369696269
NM_000302.4(PLOD1):c.1686G>A (p.Thr562=) rs565216977
NM_000302.4(PLOD1):c.1689G>A (p.Glu563=) rs139230801
NM_000302.4(PLOD1):c.169-11T>C rs760584840
NM_000302.4(PLOD1):c.1706T>A (p.Leu569Gln) rs773547480
NM_000302.4(PLOD1):c.1707G>A (p.Leu569=) rs139468110
NM_000302.4(PLOD1):c.1730G>A (p.Gly577Asp)
NM_000302.4(PLOD1):c.1756-13C>T rs370882934
NM_000302.4(PLOD1):c.1763G>T (p.Arg588Leu) rs755346019
NM_000302.4(PLOD1):c.1772del (p.Gly591fs)
NM_000302.4(PLOD1):c.177C>T (p.Gly59=) rs34032489
NM_000302.4(PLOD1):c.1785C>A (p.Asn595Lys) rs771350321
NM_000302.4(PLOD1):c.1788G>T (p.Val596=) rs35460537
NM_000302.4(PLOD1):c.1789C>T (p.Pro597Ser) rs141692280
NM_000302.4(PLOD1):c.1790C>T (p.Pro597Leu) rs775321665
NM_000302.4(PLOD1):c.1795del (p.Ile599fs) rs1557500194
NM_000302.4(PLOD1):c.1818C>A (p.Ile606=) rs372579008
NM_000302.4(PLOD1):c.1818C>T (p.Ile606=) rs372579008
NM_000302.4(PLOD1):c.1828C>T (p.Arg610Trp) rs769499769
NM_000302.4(PLOD1):c.1836G>C (p.Trp612Cys) rs121913553
NM_000302.4(PLOD1):c.1839C>A (p.His613Gln)
NM_000302.4(PLOD1):c.184G>A (p.Glu62Lys) rs146092290
NM_000302.4(PLOD1):c.1864C>T (p.Pro622Ser) rs761352524
NM_000302.4(PLOD1):c.1871C>T (p.Thr624Met) rs760314787
NM_000302.4(PLOD1):c.1885C>G (p.Pro629Ala)
NM_000302.4(PLOD1):c.1889G>A (p.Gly630Asp)
NM_000302.4(PLOD1):c.1892A>G (p.Tyr631Cys) rs752084194
NM_000302.4(PLOD1):c.1902+3G>A
NM_000302.4(PLOD1):c.1902+9G>T rs200395169
NM_000302.4(PLOD1):c.1903-14dup rs748794198
NM_000302.4(PLOD1):c.1903-5T>A rs776128914
NM_000302.4(PLOD1):c.1906C>T (p.Gln636Ter) rs1439043436
NM_000302.4(PLOD1):c.1927G>A (p.Val643Ile) rs149425237
NM_000302.4(PLOD1):c.1930C>T (p.Arg644Cys) rs576416937
NM_000302.4(PLOD1):c.1930del (p.Arg644fs) rs1557501741
NM_000302.4(PLOD1):c.1937A>G (p.Lys646Arg) rs1221992885
NM_000302.4(PLOD1):c.1960A>T (p.Met654Leu) rs1085307517
NM_000302.4(PLOD1):c.1990A>G (p.Ile664Val)
NM_000302.4(PLOD1):c.2008C>T (p.Arg670Ter) rs121913554
NM_000302.4(PLOD1):c.2029-3del
NM_000302.4(PLOD1):c.2032G>A (p.Gly678Arg) rs121913551
NM_000302.4(PLOD1):c.2041C>T (p.Arg681Trp) rs1281801241
NM_000302.4(PLOD1):c.2042G>A (p.Arg681Gln)
NM_000302.4(PLOD1):c.2057A>G (p.Asn686Ser) rs747393648
NM_000302.4(PLOD1):c.2058C>G (p.Asn686Lys)
NM_000302.4(PLOD1):c.2068C>T (p.Arg690Ter) rs373094220
NM_000302.4(PLOD1):c.2069G>A (p.Arg690Gln) rs886045208
NM_000302.4(PLOD1):c.2072C>T (p.Ala691Val) rs777096767
NM_000302.4(PLOD1):c.2075C>T (p.Pro692Leu) rs557317492
NM_000302.4(PLOD1):c.2095A>G (p.Met699Val) rs142916043
NM_000302.4(PLOD1):c.2099A>G (p.His700Arg) rs773756799
NM_000302.4(PLOD1):c.209C>T (p.Thr70Met)
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.2141C>T (p.Thr714Ile)
NM_000302.4(PLOD1):c.2152C>T (p.Arg718Cys)
NM_000302.4(PLOD1):c.2160C>T (p.Ile720=) rs140513387
NM_000302.4(PLOD1):c.2162C>T (p.Ala721Val) rs149161535
NM_000302.4(PLOD1):c.2164del (p.Val722fs)
NM_000302.4(PLOD1):c.2173G>A (p.Val725Ile) rs151247380
NM_000302.4(PLOD1):c.2173G>C (p.Val725Leu)
NM_000302.4(PLOD1):c.2181C>T (p.Pro727=) rs140741046
NM_000302.4(PLOD1):c.232G>T (p.Val78Phe) rs1306060482
NM_000302.4(PLOD1):c.235C>T (p.Arg79Trp) rs886045200
NM_000302.4(PLOD1):c.241C>G (p.Leu81Val) rs1348207190
NM_000302.4(PLOD1):c.243G>A (p.Leu81=) rs371574381
NM_000302.4(PLOD1):c.250G>A (p.Ala84Thr) rs34878020
NM_000302.4(PLOD1):c.265G>T (p.Ala89Ser) rs886039207
NM_000302.4(PLOD1):c.276G>A (p.Glu92=) rs768169776
NM_000302.4(PLOD1):c.286A>T (p.Ile96Phe) rs763494719
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.302+5G>A rs749607584
NM_000302.4(PLOD1):c.302+5G>C
NM_000302.4(PLOD1):c.303-10C>T rs750987724
NM_000302.4(PLOD1):c.303C>T (p.Ser101=) rs147980436
NM_000302.4(PLOD1):c.307G>A (p.Asp103Asn) rs774590964
NM_000302.4(PLOD1):c.30G>A (p.Leu10=)
NM_000302.4(PLOD1):c.30G>C (p.Leu10=) rs886039113
NM_000302.4(PLOD1):c.310G>A (p.Val104Met)
NM_000302.4(PLOD1):c.314T>A (p.Leu105Gln) rs1553133902
NM_000302.4(PLOD1):c.315_317del (p.Phe106del) rs770511543
NM_000302.4(PLOD1):c.327del (p.Arg111fs) rs886042976
NM_000302.4(PLOD1):c.352C>T (p.Arg118Trp) rs771186398
NM_000302.4(PLOD1):c.354_355delinsAA (p.Gln119Lys)
NM_000302.4(PLOD1):c.358G>T (p.Ala120Ser) rs2273285
NM_000302.4(PLOD1):c.369G>C (p.Gln123His)
NM_000302.4(PLOD1):c.376T>G (p.Phe126Val) rs144702307
NM_000302.4(PLOD1):c.407G>A (p.Arg136His) rs148510973
NM_000302.4(PLOD1):c.410G>C (p.Arg137Thr)
NM_000302.4(PLOD1):c.411G>A (p.Arg137=) rs151122664
NM_000302.4(PLOD1):c.472A>G (p.Ile158Val)
NM_000302.4(PLOD1):c.475G>A (p.Gly159Ser) rs772861343
NM_000302.4(PLOD1):c.481G>A (p.Ala161Thr) rs1553134244
NM_000302.4(PLOD1):c.508G>A (p.Glu170Lys) rs780519821
NM_000302.4(PLOD1):c.509A>T (p.Glu170Val) rs554232128
NM_000302.4(PLOD1):c.526A>G (p.Ser176Gly) rs1569694008
NM_000302.4(PLOD1):c.52G>A (p.Ala18Thr) rs373165011
NM_000302.4(PLOD1):c.534C>A (p.Ser178Arg) rs113384442
NM_000302.4(PLOD1):c.535G>A (p.Asp179Asn)
NM_000302.4(PLOD1):c.535G>T (p.Asp179Tyr) rs188165334
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.556A>G (p.Ile186Val) rs886045201
NM_000302.4(PLOD1):c.563T>G (p.Leu188Trp)
NM_000302.4(PLOD1):c.564G>C (p.Leu188Phe) rs201888323
NM_000302.4(PLOD1):c.567_572del (p.Asp189_Pro190del) rs775053632
NM_000302.4(PLOD1):c.569C>T (p.Pro190Leu) rs375416784
NM_000302.4(PLOD1):c.570G>A (p.Pro190=) rs776173072
NM_000302.4(PLOD1):c.577A>C (p.Arg193=) rs569590633
NM_000302.4(PLOD1):c.579+10A>G rs538255620
NM_000302.4(PLOD1):c.579+1G>A rs797044448
NM_000302.4(PLOD1):c.579+3A>C
NM_000302.4(PLOD1):c.579G>A (p.Arg193=) rs1553134266
NM_000302.4(PLOD1):c.590A>G (p.Asn197Ser)
NM_000302.4(PLOD1):c.608G>A (p.Arg203His) rs145482271
NM_000302.4(PLOD1):c.613C>T (p.Arg205Cys) rs199990859
NM_000302.4(PLOD1):c.614G>A (p.Arg205His) rs536503346
NM_000302.4(PLOD1):c.622C>T (p.Gln208Ter) rs1557490038
NM_000302.4(PLOD1):c.625A>G (p.Asn209Asp)
NM_000302.4(PLOD1):c.63C>G (p.Asp21Glu)
NM_000302.4(PLOD1):c.644-17T>G rs41307745
NM_000302.4(PLOD1):c.648G>T (p.Glu216Asp) rs150852515
NM_000302.4(PLOD1):c.656T>C (p.Leu219Pro) rs1392799816
NM_000302.4(PLOD1):c.674A>G (p.His225Arg) rs1176136454
NM_000302.4(PLOD1):c.677T>C (p.Val226Ala) rs376643174
NM_000302.4(PLOD1):c.678G>A (p.Val226=) rs371007185
NM_000302.4(PLOD1):c.702C>G (p.Asp234Glu) rs566018612
NM_000302.4(PLOD1):c.704C>A (p.Thr235Asn)
NM_000302.4(PLOD1):c.712G>T (p.Val238Phe) rs777914756
NM_000302.4(PLOD1):c.741+4G>C rs763641520
NM_000302.4(PLOD1):c.741+7G>A rs751215041
NM_000302.4(PLOD1):c.742-6C>T rs569632202
NM_000302.4(PLOD1):c.742-9C>G rs771746998
NM_000302.4(PLOD1):c.76+17C>T rs113691754
NM_000302.4(PLOD1):c.77-3407C>T rs75220940
NM_000302.4(PLOD1):c.77-7T>C rs371488160
NM_000302.4(PLOD1):c.774G>A (p.Pro258=) rs753994916
NM_000302.4(PLOD1):c.775C>T (p.Arg259Cys) rs1181531160
NM_000302.4(PLOD1):c.776G>A (p.Arg259His) rs144226170
NM_000302.4(PLOD1):c.785C>T (p.Thr262Ile) rs147940796
NM_000302.4(PLOD1):c.789C>T (p.Phe263=) rs908800499
NM_000302.4(PLOD1):c.802A>G (p.Thr268Ala) rs74354225
NM_000302.4(PLOD1):c.804C>T (p.Thr268=) rs140758113
NM_000302.4(PLOD1):c.805G>A (p.Val269Met) rs145447578
NM_000302.4(PLOD1):c.813C>T (p.Asp271=) rs373471550
NM_000302.4(PLOD1):c.814G>A (p.Glu272Lys) rs1267512667
NM_000302.4(PLOD1):c.824G>A (p.Arg275His) rs184999645
NM_000302.4(PLOD1):c.82C>A (p.Leu28Ile)
NM_000302.4(PLOD1):c.832A>C (p.Lys278Gln)
NM_000302.4(PLOD1):c.839T>C (p.Ile280Thr) rs199669594
NM_000302.4(PLOD1):c.842G>A (p.Gly281Glu) rs1056398577
NM_000302.4(PLOD1):c.844-6G>T rs767068264
NM_000302.4(PLOD1):c.856C>T (p.Pro286Ser)
NM_000302.4(PLOD1):c.860C>T (p.Thr287Met) rs777957649
NM_000302.4(PLOD1):c.861G>A (p.Thr287=) rs747570972
NM_000302.4(PLOD1):c.870C>T (p.Val290=) rs373082170
NM_000302.4(PLOD1):c.871G>A (p.Gly291Ser) rs776772692
NM_000302.4(PLOD1):c.874G>A (p.Val292Met) rs143114026
NM_000302.4(PLOD1):c.893C>T (p.Thr298Met) rs879902079
NM_000302.4(PLOD1):c.897G>A (p.Pro299=) rs199946373
NM_000302.4(PLOD1):c.89T>C (p.Val30Ala) rs777178486
NM_000302.4(PLOD1):c.920G>A (p.Arg307Gln) rs960778465
NM_000302.4(PLOD1):c.929G>A (p.Arg310Gln) rs992278231
NM_000302.4(PLOD1):c.931C>T (p.Leu311Phe) rs1438781151
NM_000302.4(PLOD1):c.941C>T (p.Pro314Leu)
NM_000302.4(PLOD1):c.947A>C (p.Lys316Thr) rs141881216
NM_000302.4(PLOD1):c.948A>G (p.Lys316=)
NM_000302.4(PLOD1):c.949C>A (p.His317Asn) rs1287367993
NM_000302.4(PLOD1):c.951C>T (p.His317=) rs770032875
NM_000302.4(PLOD1):c.955C>T (p.Arg319Ter) rs121913550
NM_000302.4(PLOD1):c.965T>A (p.Ile322Asn) rs1553135172
NM_000302.4(PLOD1):c.975+13C>T rs79345327
NM_000302.4(PLOD1):c.975C>T (p.His325=) rs761576315
NM_000302.4(PLOD1):c.976-16C>T rs142329815
NM_000302.4(PLOD1):c.976-6C>A rs200825919
NM_000302.4(PLOD1):c.979C>T (p.Gln327Ter) rs1224538282
NM_000393.5(COL5A2):c.*1076G>A rs114123906
NM_000393.5(COL5A2):c.*1165G>A rs13914
NM_000393.5(COL5A2):c.*1331C>G
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.*1764G>T rs554165132
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.-96G>T
NM_000393.5(COL5A2):c.1006-8G>A rs200405052
NM_000393.5(COL5A2):c.1006-9C>G
NM_000393.5(COL5A2):c.1006-9C>T rs73978832
NM_000393.5(COL5A2):c.1010C>T (p.Pro337Leu) rs766349082
NM_000393.5(COL5A2):c.1017A>C (p.Gly339=) rs140609193
NM_000393.5(COL5A2):c.1021C>T (p.Pro341Ser) rs538602187
NM_000393.5(COL5A2):c.1035G>C (p.Gly345=) rs148786600
NM_000393.5(COL5A2):c.1059+8T>C rs200968159
NM_000393.5(COL5A2):c.1067G>A (p.Arg356Gln) rs761072017
NM_000393.5(COL5A2):c.1076A>G (p.His359Arg) rs760117362
NM_000393.5(COL5A2):c.1081A>C (p.Met361Leu) rs76148000
NM_000393.5(COL5A2):c.1104+15T>C rs75486409
NM_000393.5(COL5A2):c.1139C>T (p.Pro380Leu) rs1576507871
NM_000393.5(COL5A2):c.1175C>T (p.Thr392Ile) rs1553515880
NM_000393.5(COL5A2):c.117A>T (p.Ile39=) rs1060504379
NM_000393.5(COL5A2):c.1182G>A (p.Ala394=) rs148229627
NM_000393.5(COL5A2):c.1186G>C (p.Gly396Arg)
NM_000393.5(COL5A2):c.118G>A (p.Ala40Thr) rs1559108874
NM_000393.5(COL5A2):c.119C>T (p.Ala40Val) rs758092388
NM_000393.5(COL5A2):c.1210A>G (p.Arg404Gly)
NM_000393.5(COL5A2):c.1228C>T (p.Pro410Ser) rs1042644306
NM_000393.5(COL5A2):c.1261G>A (p.Ala421Thr) rs200839338
NM_000393.5(COL5A2):c.1292A>G (p.Lys431Arg) rs144602736
NM_000393.5(COL5A2):c.1301C>T (p.Thr434Met) rs145850743
NM_000393.5(COL5A2):c.1302G>A (p.Thr434=) rs376170776
NM_000393.5(COL5A2):c.1311= (p.Pro437=) rs2229495
NM_000393.5(COL5A2):c.1324C>T (p.Pro442Ser) rs1008978987
NM_000393.5(COL5A2):c.1332_1349del (p.Ala446_Ser451del)
NM_000393.5(COL5A2):c.1343C>T (p.Pro448Leu)
NM_000393.5(COL5A2):c.1352C>T (p.Ser451Phe) rs778385867
NM_000393.5(COL5A2):c.1369A>G (p.Ser457Gly)
NM_000393.5(COL5A2):c.1378C>T (p.Pro460Ser) rs35830636
NM_000393.5(COL5A2):c.1391G>A (p.Arg464Gln) rs1553515798
NM_000393.5(COL5A2):c.1400C>T (p.Pro467Leu) rs115570272
NM_000393.5(COL5A2):c.1406A>G (p.Asp469Gly) rs1553515681
NM_000393.5(COL5A2):c.1412G>C (p.Gly471Ala) rs779614415
NM_000393.5(COL5A2):c.1454C>A (p.Pro485Gln) rs145281966
NM_000393.5(COL5A2):c.1455+6G>A rs113512079
NM_000393.5(COL5A2):c.1455+6G>T rs113512079
NM_000393.5(COL5A2):c.1463A>G (p.His488Arg) rs149305351
NM_000393.5(COL5A2):c.1478C>T (p.Pro493Leu)
NM_000393.5(COL5A2):c.1535T>C (p.Val512Ala) rs35852101
NM_000393.5(COL5A2):c.1542T>C (p.Pro514=) rs770622592
NM_000393.5(COL5A2):c.1550C>T (p.Pro517Leu)
NM_000393.5(COL5A2):c.1563+5A>G rs777118100
NM_000393.5(COL5A2):c.1570C>T (p.Pro524Ser) rs200205564
NM_000393.5(COL5A2):c.1579C>T (p.Arg527Cys) rs863223490
NM_000393.5(COL5A2):c.158T>A (p.Ile53Asn) rs1443765130
NM_000393.5(COL5A2):c.1613C>G (p.Pro538Arg) rs1576503605
NM_000393.5(COL5A2):c.1617+4A>G rs1553515517
NM_000393.5(COL5A2):c.1621G>T (p.Ala541Ser) rs768348357
NM_000393.5(COL5A2):c.1633C>T (p.Arg545Trp) rs145258293
NM_000393.5(COL5A2):c.1636G>A (p.Gly546Ser) rs369506320
NM_000393.5(COL5A2):c.1645G>C (p.Gly549Arg)
NM_000393.5(COL5A2):c.1658C>A (p.Pro553His) rs149203102
NM_000393.5(COL5A2):c.1681G>A (p.Gly561Arg) rs1184276149
NM_000393.5(COL5A2):c.1685G>A (p.Arg562His) rs1199481029
NM_000393.5(COL5A2):c.1693G>C (p.Glu565Gln) rs730880066
NM_000393.5(COL5A2):c.1697C>T (p.Pro566Leu) rs1051400743
NM_000393.5(COL5A2):c.16G>T (p.Ala6Ser) rs372910621
NM_000393.5(COL5A2):c.1714C>T (p.Arg572Trp) rs768322852
NM_000393.5(COL5A2):c.1715G>A (p.Arg572Gln) rs760408439
NM_000393.5(COL5A2):c.1716+9A>G rs201934598
NM_000393.5(COL5A2):c.1738G>A (p.Val580Ile) rs771004951
NM_000393.5(COL5A2):c.173C>A (p.Pro58His) rs766925699
NM_000393.5(COL5A2):c.1765C>T (p.Pro589Ser)
NM_000393.5(COL5A2):c.1770+6T>C
NM_000393.5(COL5A2):c.1792C>T (p.Arg598Cys) rs1060501906
NM_000393.5(COL5A2):c.1814T>C (p.Ile605Thr) rs746339285
NM_000393.5(COL5A2):c.182_187TCTGTG[1] (p.Val63_Cys64del)
NM_000393.5(COL5A2):c.186T>C (p.Cys62=) rs142832916
NM_000393.5(COL5A2):c.1923+8T>C rs191193125
NM_000393.5(COL5A2):c.1924-2_1928del rs786205103
NM_000393.5(COL5A2):c.1924-4C>G rs1559085578
NM_000393.5(COL5A2):c.1933G>A (p.Gly645Arg) rs1559085564
NM_000393.5(COL5A2):c.1972C>T (p.Pro658Ser)
NM_000393.5(COL5A2):c.1973C>T (p.Pro658Leu) rs746458284
NM_000393.5(COL5A2):c.1976C>T (p.Pro659Leu) rs145404046
NM_000393.5(COL5A2):c.1977+12T>G rs202204374
NM_000393.5(COL5A2):c.1977+1G>A rs1576502045
NM_000393.5(COL5A2):c.1977G>A (p.Pro659=) rs863223491
NM_000393.5(COL5A2):c.198T>C (p.Asn66=) rs76511879
NM_000393.5(COL5A2):c.2008C>A (p.Pro670Thr) rs904166744
NM_000393.5(COL5A2):c.2011C>T (p.Pro671Ser) rs139189200
NM_000393.5(COL5A2):c.2031+1G>T rs786205104
NM_000393.5(COL5A2):c.2031+3A>G
NM_000393.5(COL5A2):c.2031+6C>T
NM_000393.5(COL5A2):c.2032-7G>A rs141571092
NM_000393.5(COL5A2):c.2066G>C (p.Gly689Ala)
NM_000393.5(COL5A2):c.2092C>A (p.Pro698Thr) rs146005731
NM_000393.5(COL5A2):c.2101C>A (p.Pro701Thr) rs765785677
NM_000393.5(COL5A2):c.2104G>A (p.Gly702Arg) rs772811492
NM_000393.5(COL5A2):c.2111T>C (p.Val704Ala) rs542643688
NM_000393.5(COL5A2):c.2117C>T (p.Pro706Leu) rs146175905
NM_000393.5(COL5A2):c.2130A>G (p.Arg710=) rs1451386429
NM_000393.5(COL5A2):c.2168G>A (p.Gly723Glu) rs1553514920
NM_000393.5(COL5A2):c.2210delinsGTCC (p.His737delinsArgPro) rs1559083259
NM_000393.5(COL5A2):c.2228A>C (p.Lys743Thr) rs372812220
NM_000393.5(COL5A2):c.2263A>C (p.Thr755Pro) rs34395097
NM_000393.5(COL5A2):c.228C>T (p.Cys76=) rs564136480
NM_000393.5(COL5A2):c.2291C>G (p.Pro764Arg) rs150260969
NM_000393.5(COL5A2):c.2291C>T (p.Pro764Leu) rs150260969
NM_000393.5(COL5A2):c.2307T>A (p.Ile769=) rs763068575
NM_000393.5(COL5A2):c.2334C>T (p.Asp778=) rs138457003
NM_000393.5(COL5A2):c.2335A>G (p.Arg779Gly)
NM_000393.5(COL5A2):c.2337+8C>T rs999144463
NM_000393.5(COL5A2):c.2338-10G>A
NM_000393.5(COL5A2):c.2338-6T>C rs375291199
NM_000393.5(COL5A2):c.2344A>G (p.Ile782Val) rs1270917752
NM_000393.5(COL5A2):c.2376A>C (p.Gly792=) rs35860166
NM_000393.5(COL5A2):c.238C>G (p.Leu80Val) rs746454126
NM_000393.5(COL5A2):c.239T>A (p.Leu80Gln)
NM_000393.5(COL5A2):c.2408T>C (p.Leu803Ser) rs149737825
NM_000393.5(COL5A2):c.2424G>A (p.Pro808=) rs200019093
NM_000393.5(COL5A2):c.2498C>T (p.Pro833Leu) rs116298748
NM_000393.5(COL5A2):c.249C>T (p.Ala83=) rs142388534
NM_000393.5(COL5A2):c.2506C>G (p.Arg836Gly) rs367718811
NM_000393.5(COL5A2):c.250G>A (p.Asp84Asn) rs745528957
NM_000393.5(COL5A2):c.2533G>A (p.Val845Ile) rs375124784
NM_000393.5(COL5A2):c.2544C>T (p.Ala848=) rs370774253
NM_000393.5(COL5A2):c.2552A>G (p.Gln851Arg)
NM_000393.5(COL5A2):c.2553+2del rs1553514506
NM_000393.5(COL5A2):c.2554-14A>G rs142429770
NM_000393.5(COL5A2):c.2562C>A (p.Asp854Glu) rs148430780
NM_000393.5(COL5A2):c.2562C>T (p.Asp854=) rs148430780
NM_000393.5(COL5A2):c.2597C>T (p.Pro866Leu) rs143261719
NM_000393.5(COL5A2):c.259A>C (p.Thr87Pro)
NM_000393.5(COL5A2):c.2602C>A (p.Gln868Lys) rs1553514451
NM_000393.5(COL5A2):c.260C>T (p.Thr87Met) rs778591411
NM_000393.5(COL5A2):c.261G>A (p.Thr87=) rs142044596
NM_000393.5(COL5A2):c.2627G>A (p.Gly876Glu) rs886039694
NM_000393.5(COL5A2):c.2634A>G (p.Gln878=) rs370304175
NM_000393.5(COL5A2):c.263C>A (p.Pro88His) rs149877855
NM_000393.5(COL5A2):c.2641G>A (p.Ala881Thr) rs760858324
NM_000393.5(COL5A2):c.2641G>T (p.Ala881Ser) rs760858324
NM_000393.5(COL5A2):c.2648C>A (p.Ser883Tyr) rs773515722
NM_000393.5(COL5A2):c.2661+13G>T rs534626192
NM_000393.5(COL5A2):c.2712G>A (p.Pro904=) rs372869641
NM_000393.5(COL5A2):c.2716-4C>T rs111644889
NM_000393.5(COL5A2):c.2741C>T (p.Ala914Val) rs201486858
NM_000393.5(COL5A2):c.2764C>G (p.Pro922Ala)
NM_000393.5(COL5A2):c.2770-5A>G rs370313198
NM_000393.5(COL5A2):c.2770-6T>C rs770409954
NM_000393.5(COL5A2):c.2782C>T (p.Pro928Ser) rs1189019903
NM_000393.5(COL5A2):c.2786C>A (p.Ala929Glu)
NM_000393.5(COL5A2):c.2787G>A (p.Ala929=) rs151027388
NM_000393.5(COL5A2):c.2831G>A (p.Arg944His) rs761988412
NM_000393.5(COL5A2):c.2834G>A (p.Gly945Glu) rs868695034
NM_000393.5(COL5A2):c.2839C>G (p.Pro947Ala)
NM_000393.5(COL5A2):c.2841T>A (p.Pro947=) rs372780282
NM_000393.5(COL5A2):c.284T>A (p.Val95Asp) rs759604513
NM_000393.5(COL5A2):c.2852G>A (p.Gly951Glu) rs772448543
NM_000393.5(COL5A2):c.2854C>T (p.Arg952Cys) rs199530997
NM_000393.5(COL5A2):c.2855G>A (p.Arg952His) rs139264859
NM_000393.5(COL5A2):c.2859G>A (p.Val953=)
NM_000393.5(COL5A2):c.2863G>A (p.Asp955Asn) rs754751410
NM_000393.5(COL5A2):c.2867G>C (p.Arg956Pro) rs6434313
NM_000393.5(COL5A2):c.2872C>T (p.Pro958Ser) rs957007431
NM_000393.5(COL5A2):c.2881C>T (p.Pro961Ser) rs267599127
NM_000393.5(COL5A2):c.2882C>T (p.Pro961Leu) rs778835151
NM_000393.5(COL5A2):c.288T>C (p.Cys96=) rs577308799
NM_000393.5(COL5A2):c.2895A>G (p.Pro965=) rs760946138
NM_000393.5(COL5A2):c.2919dup (p.Asp974fs)
NM_000393.5(COL5A2):c.2929C>T (p.Pro977Ser) rs1576494351
NM_000393.5(COL5A2):c.2947C>T (p.Pro983Ser) rs141644853
NM_000393.5(COL5A2):c.2950G>C (p.Gly984Arg) rs1576493931
NM_000393.5(COL5A2):c.2963C>T (p.Thr988Met) rs369072636
NM_000393.5(COL5A2):c.2968G>A (p.Gly990Arg) rs1040238147
NM_000393.5(COL5A2):c.2970G>C (p.Gly990=) rs933589600
NM_000393.5(COL5A2):c.2970G>T (p.Gly990=)
NM_000393.5(COL5A2):c.2981T>C (p.Ile994Thr) rs1354785209
NM_000393.5(COL5A2):c.2988C>T (p.Gly996=) rs201299226
NM_000393.5(COL5A2):c.3001C>T (p.Arg1001Cys) rs863223507
NM_000393.5(COL5A2):c.3006A>T (p.Gly1002=) rs756259584
NM_000393.5(COL5A2):c.3017T>A (p.Met1006Lys) rs930378570
NM_000393.5(COL5A2):c.3019C>T (p.Pro1007Ser)
NM_000393.5(COL5A2):c.3021C>T (p.Pro1007=) rs143318792
NM_000393.5(COL5A2):c.3022G>A (p.Gly1008Ser) rs909634945
NM_000393.5(COL5A2):c.302G>A (p.Gly101Glu)
NM_000393.5(COL5A2):c.3038C>T (p.Ala1013Val) rs372220538
NM_000393.5(COL5A2):c.3039+15C>T rs114619770
NM_000393.5(COL5A2):c.3068G>T (p.Gly1023Val)
NM_000393.5(COL5A2):c.3098C>T (p.Pro1033Leu) rs75542756
NM_000393.5(COL5A2):c.3103G>A (p.Gly1035Arg)
NM_000393.5(COL5A2):c.3119A>G (p.Asn1040Ser) rs773168254
NM_000393.5(COL5A2):c.3143C>A (p.Pro1048Gln)
NM_000393.5(COL5A2):c.3147+1G>A
NM_000393.5(COL5A2):c.3148-2A>G rs1553513971
NM_000393.5(COL5A2):c.315= (p.Thr105=) rs4128539
NM_000393.5(COL5A2):c.315C>A (p.Thr105=) rs4128539
NM_000393.5(COL5A2):c.3169A>G (p.Thr1057Ala) rs768663426
NM_000393.5(COL5A2):c.316A>G (p.Asn106Asp) rs1449512324
NM_000393.5(COL5A2):c.3170C>A (p.Thr1057Asn) rs201186702
NM_000393.5(COL5A2):c.3178C>A (p.Arg1060=) rs374549843
NM_000393.5(COL5A2):c.3178C>T (p.Arg1060Trp) rs374549843
NM_000393.5(COL5A2):c.3196G>A (p.Glu1066Lys) rs779213867
NM_000393.5(COL5A2):c.3199C>T (p.Arg1067Cys)
NM_000393.5(COL5A2):c.31C>A (p.Leu11Ile) rs1576577162
NM_000393.5(COL5A2):c.3208C>T (p.Arg1070Cys) rs754429372
NM_000393.5(COL5A2):c.3209G>A (p.Arg1070His) rs373288848
NM_000393.5(COL5A2):c.322+157C>T rs4128538
NM_000393.5(COL5A2):c.322+8T>C rs372227642
NM_000393.5(COL5A2):c.3222G>A (p.Gly1074=) rs149574060
NM_000393.5(COL5A2):c.3246G>C (p.Gln1082His) rs1039715132
NM_000393.5(COL5A2):c.3248G>A (p.Gly1083Asp) rs1559076883
NM_000393.5(COL5A2):c.3268C>T (p.Pro1090Ser) rs761543775
NM_000393.5(COL5A2):c.3283G>A (p.Gly1095Arg) rs1576490680
NM_000393.5(COL5A2):c.3308C>T (p.Pro1103Leu) rs150401168
NM_000393.5(COL5A2):c.3309+1G>A rs1553513657
NM_000393.5(COL5A2):c.3309G>A (p.Pro1103=) rs878853978
NM_000393.5(COL5A2):c.3310-3T>A
NM_000393.5(COL5A2):c.3311G>T (p.Gly1104Val) rs1167178682
NM_000393.5(COL5A2):c.3316C>T (p.Arg1106Trp) rs146789395
NM_000393.5(COL5A2):c.3325A>G (p.Ile1109Val) rs766499543
NM_000393.5(COL5A2):c.3331C>T (p.Pro1111Ser)
NM_000393.5(COL5A2):c.3341G>A (p.Arg1114Gln) rs377049803
NM_000393.5(COL5A2):c.3343G>C (p.Ala1115Pro) rs748601646
NM_000393.5(COL5A2):c.3363+2T>C rs1559076442
NM_000393.5(COL5A2):c.3373G>A (p.Gly1125Arg) rs151187317
NM_000393.5(COL5A2):c.3385G>A (p.Asp1129Asn) rs199802059
NM_000393.5(COL5A2):c.3391G>A (p.Gly1131Ser) rs747946828
NM_000393.5(COL5A2):c.33C>T (p.Leu11=) rs140108893
NM_000393.5(COL5A2):c.3411= (p.Gly1137=) rs6434312
NM_000393.5(COL5A2):c.3412G>A (p.Asp1138Asn)
NM_000393.5(COL5A2):c.3445G>C (p.Gly1149Arg) rs121912930
NM_000393.5(COL5A2):c.3471+3A>G
NM_000393.5(COL5A2):c.3471+8A>T rs367643805
NM_000393.5(COL5A2):c.3488A>G (p.Gln1163Arg) rs758412337
NM_000393.5(COL5A2):c.3490G>C (p.Gly1164Arg)
NM_000393.5(COL5A2):c.3491G>A (p.Gly1164Glu) rs863223508
NM_000393.5(COL5A2):c.34C>T (p.Leu12Phe) rs768807471
NM_000393.5(COL5A2):c.3513A>G (p.Pro1171=) rs754108091
NM_000393.5(COL5A2):c.3533C>A (p.Pro1178Gln) rs1060501905
NM_000393.5(COL5A2):c.3542T>G (p.Val1181Gly) rs200845884
NM_000393.5(COL5A2):c.3567C>A (p.Asn1189Lys) rs745845130
NM_000393.5(COL5A2):c.3608G>A (p.Gly1203Asp) rs1576488066
NM_000393.5(COL5A2):c.3611G>A (p.Ser1204Asn) rs1060501907
NM_000393.5(COL5A2):c.3614T>C (p.Val1205Ala) rs148110552
NM_000393.5(COL5A2):c.3637C>T (p.Pro1213Ser)
NM_000393.5(COL5A2):c.3638C>T (p.Pro1213Leu) rs1056466895
NM_000393.5(COL5A2):c.3646G>A (p.Glu1216Lys) rs755429175
NM_000393.5(COL5A2):c.3658C>T (p.Pro1220Ser) rs770554435
NM_000393.5(COL5A2):c.3668C>T (p.Pro1223Leu) rs753383064
NM_000393.5(COL5A2):c.3676C>T (p.Pro1226Ser) rs199621926
NM_000393.5(COL5A2):c.3689C>G (p.Thr1230Arg) rs62184175
NM_000393.5(COL5A2):c.369+1G>T rs1559104199
NM_000393.5(COL5A2):c.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.3728G>A (p.Ser1243Asn) rs140851866
NM_000393.5(COL5A2):c.3733C>T (p.Pro1245Ser) rs376971803
NM_000393.5(COL5A2):c.3739C>A (p.Pro1247Thr)
NM_000393.5(COL5A2):c.3756T>C (p.Thr1252=) rs1576486483
NM_000393.5(COL5A2):c.376G>A (p.Gly126Ser) rs779153546
NM_000393.5(COL5A2):c.3791C>T (p.Thr1264Met) rs762902468
NM_000393.5(COL5A2):c.3794A>G (p.Asp1265Gly) rs200325397
NM_000393.5(COL5A2):c.379A>C (p.Ile127Leu) rs1064795177
NM_000393.5(COL5A2):c.379A>G (p.Ile127Val) rs1064795177
NM_000393.5(COL5A2):c.3835A>G (p.Ile1279Val) rs772344964
NM_000393.5(COL5A2):c.3837T>C (p.Ile1279=) rs148795690
NM_000393.5(COL5A2):c.383G>A (p.Arg128His)
NM_000393.5(COL5A2):c.3854C>T (p.Pro1285Leu) rs867460091
NM_000393.5(COL5A2):c.3877G>T (p.Ala1293Ser)
NM_000393.5(COL5A2):c.3878C>T (p.Ala1293Val) rs1251846979
NM_000393.5(COL5A2):c.3880C>T (p.Arg1294Cys) rs758136981
NM_000393.5(COL5A2):c.3889G>A (p.Asp1297Asn) rs1553512886
NM_000393.5(COL5A2):c.389G>A (p.Arg130His) rs377331666
NM_000393.5(COL5A2):c.3913G>A (p.Ala1305Thr) rs372897632
NM_000393.5(COL5A2):c.3919C>G (p.Gln1307Glu) rs142814184
NM_000393.5(COL5A2):c.3926G>A (p.Gly1309Asp) rs863223497
NM_000393.5(COL5A2):c.3975A>G (p.Lys1325=) rs775697182
NM_000393.5(COL5A2):c.399G>A (p.Pro133=) rs369867930
NM_000393.5(COL5A2):c.403-3T>C rs369733690
NM_000393.5(COL5A2):c.4037G>A (p.Arg1346His) rs143163673
NM_000393.5(COL5A2):c.4067A>G (p.Asp1356Gly) rs140952583
NM_000393.5(COL5A2):c.4069A>T (p.Asn1357Tyr)
NM_000393.5(COL5A2):c.407C>T (p.Pro136Leu) rs863223502
NM_000393.5(COL5A2):c.4085A>G (p.Tyr1362Cys) rs141206016
NM_000393.5(COL5A2):c.4105G>C (p.Gly1369Arg)
NM_000393.5(COL5A2):c.4114-11T>C rs587780908
NM_000393.5(COL5A2):c.4114-18_4114-17del rs1440458273
NM_000393.5(COL5A2):c.4138C>T (p.Pro1380Ser) rs145755198
NM_000393.5(COL5A2):c.4153A>G (p.Thr1385Ala) rs1169417653
NM_000393.5(COL5A2):c.4161G>A (p.Met1387Ile)
NM_000393.5(COL5A2):c.4163C>A (p.Thr1388Asn) rs771415085
NM_000393.5(COL5A2):c.4163C>T (p.Thr1388Ile) rs771415085
NM_000393.5(COL5A2):c.4172G>A (p.Arg1391His) rs150931608
NM_000393.5(COL5A2):c.4173C>G (p.Arg1391=) rs148590409
NM_000393.5(COL5A2):c.4197G>A (p.Gln1399=) rs78870279
NM_000393.5(COL5A2):c.4200C>T (p.Asn1400=) rs979486002
NM_000393.5(COL5A2):c.4217A>G (p.Lys1406Arg) rs754932150
NM_000393.5(COL5A2):c.4240G>A (p.Asp1414Asn) rs139229616
NM_000393.5(COL5A2):c.4295A>T (p.Asp1432Val) rs141777954
NM_000393.5(COL5A2):c.4298del (p.Ile1433fs) rs1553512393
NM_000393.5(COL5A2):c.4307A>G (p.Glu1436Gly) rs371259794
NM_000393.5(COL5A2):c.4325G>A (p.Arg1442Gln) rs761126767
NM_000393.5(COL5A2):c.4333G>A (p.Val1445Ile) rs762653511
NM_000393.5(COL5A2):c.4354-6T>A
NM_000393.5(COL5A2):c.4357C>T (p.Arg1453Trp) rs760569641
NM_000393.5(COL5A2):c.4358G>A (p.Arg1453Gln) rs149064715
NM_000393.5(COL5A2):c.4362T>A (p.Asn1454Lys) rs372170366
NM_000393.5(COL5A2):c.437G>A (p.Arg146Gln) rs144430633
NM_000393.5(COL5A2):c.4389A>G (p.Glu1463=) rs146100075
NM_000393.5(COL5A2):c.4392T>C (p.Tyr1464=) rs142544320
NM_000393.5(COL5A2):c.4409C>T (p.Ala1470Val) rs140109751
NM_000393.5(COL5A2):c.4412G>A (p.Arg1471His)
NM_000393.5(COL5A2):c.4443T>C (p.Asp1481=) rs142857608
NM_000393.5(COL5A2):c.4449C>T (p.Gly1483=) rs78905646
NM_000393.5(COL5A2):c.4450G>A (p.Gly1484Ser) rs147420365
NM_000393.5(COL5A2):c.4451G>A (p.Gly1484Asp) rs761481937
NM_000393.5(COL5A2):c.4470C>T (p.Gly1490=) rs142895373
NM_000393.5(COL5A2):c.4471G>A (p.Val1491Ile) rs200703515
NM_000393.5(COL5A2):c.4495G>T (p.Val1499Leu) rs527433112
NM_000393.5(COL5A2):c.463C>T (p.Arg155Cys) rs767252151
NM_000393.5(COL5A2):c.519A>C (p.Pro173=) rs1553517803
NM_000393.5(COL5A2):c.536C>T (p.Pro179Leu)
NM_000393.5(COL5A2):c.552C>T (p.Pro184=) rs548352939
NM_000393.5(COL5A2):c.553G>A (p.Asp185Asn) rs775933907
NM_000393.5(COL5A2):c.567+7T>C rs755666206
NM_000393.5(COL5A2):c.568-10G>A rs58106884
NM_000393.5(COL5A2):c.569C>T (p.Pro190Leu)
NM_000393.5(COL5A2):c.570G>A (p.Pro190=) rs139666335
NM_000393.5(COL5A2):c.586G>C (p.Ala196Pro) rs142855115
NM_000393.5(COL5A2):c.5T>C (p.Met2Thr) rs762874073
NM_000393.5(COL5A2):c.635C>T (p.Pro212Leu)
NM_000393.5(COL5A2):c.64G>A (p.Val22Ile) rs746289356
NM_000393.5(COL5A2):c.668C>T (p.Pro223Leu)
NM_000393.5(COL5A2):c.690+5G>T rs1576517517
NM_000393.5(COL5A2):c.722A>G (p.Glu241Gly)
NM_000393.5(COL5A2):c.73A>C (p.Lys25Gln)
NM_000393.5(COL5A2):c.743T>C (p.Met248Thr)
NM_000393.5(COL5A2):c.750G>A (p.Pro250=) rs751819198
NM_000393.5(COL5A2):c.754G>T (p.Gly252Cys) rs1553517323
NM_000393.5(COL5A2):c.75A>G (p.Lys25=) rs549894501
NM_000393.5(COL5A2):c.798+10C>T rs368165817
NM_000393.5(COL5A2):c.798+5G>A rs1296613540
NM_000393.5(COL5A2):c.799-15dup rs1169314276
NM_000393.5(COL5A2):c.799-6A>G rs111586240
NM_000393.5(COL5A2):c.799-7C>A rs879227018
NM_000393.5(COL5A2):c.851C>T (p.Pro284Leu) rs540573303
NM_000393.5(COL5A2):c.852+14C>T rs56310996
NM_000393.5(COL5A2):c.852G>A (p.Pro284=)
NM_000393.5(COL5A2):c.856G>A (p.Ala286Thr)
NM_000393.5(COL5A2):c.859C>T (p.Arg287Cys) rs779241228
NM_000393.5(COL5A2):c.870T>C (p.Pro290=) rs139656817
NM_000393.5(COL5A2):c.875C>T (p.Ala292Val) rs1211991688
NM_000393.5(COL5A2):c.889G>A (p.Gly297Ser)
NM_000393.5(COL5A2):c.905G>C (p.Arg302Pro) rs545574407
NM_000393.5(COL5A2):c.906+10A>T rs776578452
NM_000393.5(COL5A2):c.906+9A>G rs761662868
NM_000393.5(COL5A2):c.955T>C (p.Ser319Pro) rs1060501908
NM_000393.5(COL5A2):c.961-3del rs542134887
NM_000393.5(COL5A2):c.975C>T (p.Pro325=) rs144344474
NM_000393.5(COL5A2):c.98-12T>G rs117917418
NM_000393.5(COL5A2):c.98-13T>A rs376487446
NM_000393.5(COL5A2):c.985A>G (p.Met329Val) rs140785678
NM_000477.5(ALB):c.71G>A (p.Arg24Gln) rs74821926
NM_001110556.2(FLNA):c.1000G>A (p.Ala334Thr) rs886044859
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.1034G>A (p.Trp345Ter)
NM_001110556.2(FLNA):c.1038C>T (p.Tyr346=) rs1057522072
NM_001110556.2(FLNA):c.1044C>T (p.Pro348=) rs375821223
NM_001110556.2(FLNA):c.1045G>T (p.Glu349Ter) rs370490152
NM_001110556.2(FLNA):c.1061_1065del (p.His354fs) rs786205180
NM_001110556.2(FLNA):c.1065+1G>T
NM_001110556.2(FLNA):c.1065G>A (p.Lys355=) rs1557179325
NM_001110556.2(FLNA):c.1087C>T (p.Gln363Ter)
NM_001110556.2(FLNA):c.108G>A (p.Ala36=) rs782572024
NM_001110556.2(FLNA):c.108_110GGA[1] (p.Glu37del)
NM_001110556.2(FLNA):c.1096G>A (p.Ala366Thr) rs781805670
NM_001110556.2(FLNA):c.1119C>G (p.Tyr373Ter) rs782121971
NM_001110556.2(FLNA):c.1120G>A (p.Val374Met) rs201681328
NM_001110556.2(FLNA):c.1138G>A (p.Asp380Asn) rs782090266
NM_001110556.2(FLNA):c.1159C>T (p.Gln387Ter)
NM_001110556.2(FLNA):c.115G>T (p.Ala39Ser)
NM_001110556.2(FLNA):c.116C>G (p.Ala39Gly) rs137853313
NM_001110556.2(FLNA):c.1170C>A (p.Gly390=) rs1603362865
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.1192G>T (p.Ala398Ser)
NM_001110556.2(FLNA):c.1204A>G (p.Thr402Ala) rs1569551838
NM_001110556.2(FLNA):c.1223C>T (p.Thr408Met) rs781827791
NM_001110556.2(FLNA):c.1229-8C>T rs376190976
NM_001110556.2(FLNA):c.1238C>T (p.Thr413Met) rs782549299
NM_001110556.2(FLNA):c.1239G>A (p.Thr413=) rs200278701
NM_001110556.2(FLNA):c.1249G>A (p.Glu417Lys) rs367639317
NM_001110556.2(FLNA):c.125A>G (p.Lys42Arg) rs1569551930
NM_001110556.2(FLNA):c.1260C>T (p.Ile420=) rs1351119633
NM_001110556.2(FLNA):c.1267C>T (p.Pro423Ser) rs863223643
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.129G>C (p.Lys43Asn)
NM_001110556.2(FLNA):c.1309C>T (p.Arg437Trp) rs863223644
NM_001110556.2(FLNA):c.1310G>A (p.Arg437Gln) rs782320818
NM_001110556.2(FLNA):c.1319G>C (p.Ser440Thr) rs782649138
NM_001110556.2(FLNA):c.1327C>T (p.Arg443Cys) rs782673341
NM_001110556.2(FLNA):c.1342C>A (p.Pro448Thr)
NM_001110556.2(FLNA):c.1365C>A (p.Thr455=) rs782726997
NM_001110556.2(FLNA):c.1366G>A (p.Val456Met) rs782495199
NM_001110556.2(FLNA):c.1372G>A (p.Val458Ile) rs782791907
NM_001110556.2(FLNA):c.1376C>A (p.Thr459Lys)
NM_001110556.2(FLNA):c.1376C>T (p.Thr459Met)
NM_001110556.2(FLNA):c.137del (p.Gln46fs) rs786205181
NM_001110556.2(FLNA):c.1386C>T (p.Gly462=)
NM_001110556.2(FLNA):c.1406C>T (p.Pro469Leu) rs782434140
NM_001110556.2(FLNA):c.141C>T (p.Asn47=) rs1603363922
NM_001110556.2(FLNA):c.1424G>A (p.Gly475Asp) rs1557179125
NM_001110556.2(FLNA):c.1429+8C>T rs202181557
NM_001110556.2(FLNA):c.1429+9G>A rs782226711
NM_001110556.2(FLNA):c.1430-1G>T rs786205177
NM_001110556.2(FLNA):c.1438C>T (p.Pro480Ser) rs782682232
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.1451G>A (p.Arg484Gln) rs782371735
NM_001110556.2(FLNA):c.1454C>T (p.Ala485Val) rs782262202
NM_001110556.2(FLNA):c.1463G>A (p.Arg488Gln)
NM_001110556.2(FLNA):c.1479G>C (p.Lys493Asn) rs1557179001
NM_001110556.2(FLNA):c.1486C>T (p.Arg496Trp) rs868994092
NM_001110556.2(FLNA):c.1528G>A (p.Ala510Thr) rs782698277
NM_001110556.2(FLNA):c.1542G>C (p.Glu514Asp) rs782765195
NM_001110556.2(FLNA):c.1571G>A (p.Gly524Glu) rs1557178957
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.1582G>C (p.Val528Leu) rs143873938
NM_001110556.2(FLNA):c.1603G>A (p.Asp535Asn) rs782321294
NM_001110556.2(FLNA):c.1608C>T (p.Gly536=)
NM_001110556.2(FLNA):c.1609G>A (p.Val537Met)
NM_001110556.2(FLNA):c.1609G>C (p.Val537Leu)
NM_001110556.2(FLNA):c.1613A>G (p.Tyr538Cys) rs1557178932
NM_001110556.2(FLNA):c.1621G>A (p.Glu541Lys) rs743546
NM_001110556.2(FLNA):c.1633A>G (p.Met545Val)
NM_001110556.2(FLNA):c.1654G>A (p.Val552Ile) rs863223619
NM_001110556.2(FLNA):c.1665G>A (p.Thr555=) rs782376419
NM_001110556.2(FLNA):c.1688G>A (p.Arg563His) rs781852373
NM_001110556.2(FLNA):c.168C>G (p.His56Gln) rs1569551928
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.1722T>A (p.Cys574Ter) rs786205182
NM_001110556.2(FLNA):c.1771G>A (p.Val591Ile) rs200673062
NM_001110556.2(FLNA):c.1796T>A (p.Val599Glu) rs1603362453
NM_001110556.2(FLNA):c.1799A>G (p.Glu600Gly) rs1603362451
NM_001110556.2(FLNA):c.1807G>T (p.Gly603Trp) rs200116438
NM_001110556.2(FLNA):c.1813G>A (p.Asp605Asn) rs201093148
NM_001110556.2(FLNA):c.1815C>T (p.Asp605=) rs781821848
NM_001110556.2(FLNA):c.1823C>T (p.Thr608Met) rs1603362434
NM_001110556.2(FLNA):c.1828+3A>G rs368041880
NM_001110556.2(FLNA):c.1829-1G>C rs1603362402
NM_001110556.2(FLNA):c.1829-2A>G rs786205183
NM_001110556.2(FLNA):c.1850C>T (p.Ser617Leu) rs782193139
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.1882G>A (p.Asp628Asn)
NM_001110556.2(FLNA):c.1894G>A (p.Asp632Asn) rs782718606
NM_001110556.2(FLNA):c.1900C>G (p.Arg634Gly) rs111516546
NM_001110556.2(FLNA):c.1901G>A (p.Arg634His) rs782038837
NM_001110556.2(FLNA):c.1902C>T (p.Arg634=) rs782136908
NM_001110556.2(FLNA):c.1910C>A (p.Pro637Gln) rs267606815
NM_001110556.2(FLNA):c.1923C>T (p.Gly641=) rs80338841
NM_001110556.2(FLNA):c.1932C>T (p.Ala644=) rs1221420896
NM_001110556.2(FLNA):c.1932_1938del (p.Val645fs)
NM_001110556.2(FLNA):c.1958A>G (p.Asp653Gly) rs1249111377
NM_001110556.2(FLNA):c.1964G>A (p.Arg655His) rs782563602
NM_001110556.2(FLNA):c.1966C>T (p.Leu656Phe) rs137853311
NM_001110556.2(FLNA):c.1968C>T (p.Leu656=) rs73638274
NM_001110556.2(FLNA):c.196A>T (p.Asn66Tyr) rs1569551926
NM_001110556.2(FLNA):c.1991G>A (p.Arg664His) rs1271495778
NM_001110556.2(FLNA):c.1997C>G (p.Ala666Gly) rs374295965
NM_001110556.2(FLNA):c.1997C>T (p.Ala666Val) rs374295965
NM_001110556.2(FLNA):c.1998G>A (p.Ala666=) rs34510365
NM_001110556.2(FLNA):c.19C>T (p.Arg7Trp) rs941318584
NM_001110556.2(FLNA):c.2001C>T (p.Pro667=) rs782344845
NM_001110556.2(FLNA):c.2003A>G (p.Gln668Arg)
NM_001110556.2(FLNA):c.2019C>T (p.Asp673=) rs1557178734
NM_001110556.2(FLNA):c.2023-4C>G rs368719012
NM_001110556.2(FLNA):c.2023-5G>A rs782694533
NM_001110556.2(FLNA):c.2023-6C>T rs372021340
NM_001110556.2(FLNA):c.2023-8C>T rs587780335
NM_001110556.2(FLNA):c.2027A>G (p.Lys676Arg) rs781798819
NM_001110556.2(FLNA):c.2033G>A (p.Arg678His) rs924631524
NM_001110556.2(FLNA):c.20G>C (p.Arg7Pro) rs781814342
NM_001110556.2(FLNA):c.2103C>T (p.His701=) rs200227077
NM_001110556.2(FLNA):c.2123G>A (p.Arg708Gln) rs371707134
NM_001110556.2(FLNA):c.2132T>A (p.Val711Asp) rs267606817
NM_001110556.2(FLNA):c.2162C>T (p.Ala721Val) rs781840723
NM_001110556.2(FLNA):c.2170A>G (p.Lys724Glu)
NM_001110556.2(FLNA):c.2178C>T (p.Asn726=) rs371501734
NM_001110556.2(FLNA):c.2181C>T (p.Gly727=)
NM_001110556.2(FLNA):c.2183A>G (p.Asn728Ser) rs375038091
NM_001110556.2(FLNA):c.2204A>G (p.Tyr735Cys) rs1603362223
NM_001110556.2(FLNA):c.2205C>T (p.Tyr735=) rs782551055
NM_001110556.2(FLNA):c.2220G>A (p.Pro740=) rs202055800
NM_001110556.2(FLNA):c.2233G>T (p.Ala745Ser) rs1336740117
NM_001110556.2(FLNA):c.2254G>A (p.Val752Ile) rs1297013254
NM_001110556.2(FLNA):c.2254_2268delinsCCCTTCAGGGTG (p.Val752_Asn756delinsProPheArgVal) rs863223631
NM_001110556.2(FLNA):c.2280+266_2827-25delinsTG
NM_001110556.2(FLNA):c.2280+389T>A rs1557178535
NM_001110556.2(FLNA):c.2280+9A>G rs1603362191
NM_001110556.2(FLNA):c.2281-3C>A rs1603361933
NM_001110556.2(FLNA):c.2281-6_2281-2dup
NM_001110556.2(FLNA):c.2283dup (p.Asn762fs)
NM_001110556.2(FLNA):c.2310C>A (p.Asn770Lys) rs202109957
NM_001110556.2(FLNA):c.2310C>T (p.Asn770=) rs202109957
NM_001110556.2(FLNA):c.2313G>A (p.Lys771=) rs782741007
NM_001110556.2(FLNA):c.2319A>T (p.Lys773Asn) rs1060500719
NM_001110556.2(FLNA):c.2323T>C (p.Tyr775His) rs371839875
NM_001110556.2(FLNA):c.2361C>G (p.His787Gln) rs863223620
NM_001110556.2(FLNA):c.2364G>A (p.Glu788=) rs1448428046
NM_001110556.2(FLNA):c.237G>C (p.Ala79=) rs200626788
NM_001110556.2(FLNA):c.237G>T (p.Ala79=) rs200626788
NM_001110556.2(FLNA):c.2389G>A (p.Ala797Thr) rs201073998
NM_001110556.2(FLNA):c.2389G>T (p.Ala797Ser)
NM_001110556.2(FLNA):c.2405-4G>A rs368187218
NM_001110556.2(FLNA):c.2410G>A (p.Val804Ile) rs374130804
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.2452del (p.Ala818fs) rs1603361851
NM_001110556.2(FLNA):c.2454C>T (p.Ala818=) rs374672498
NM_001110556.2(FLNA):c.245A>T (p.Glu82Val) rs28935169
NM_001110556.2(FLNA):c.2472C>T (p.Phe824=) rs782669943
NM_001110556.2(FLNA):c.2473G>A (p.Asp825Asn)
NM_001110556.2(FLNA):c.2483G>A (p.Arg828His) rs1347740802
NM_001110556.2(FLNA):c.2483G>C (p.Arg828Pro) rs1347740802
NM_001110556.2(FLNA):c.2485A>G (p.Asn829Asp) rs1557178269
NM_001110556.2(FLNA):c.2492A>G (p.Asn831Ser) rs781846227
NM_001110556.2(FLNA):c.2505G>A (p.Thr835=) rs782013801
NM_001110556.2(FLNA):c.2516C>T (p.Thr839Met) rs201603843
NM_001110556.2(FLNA):c.2527G>A (p.Ala843Thr)
NM_001110556.2(FLNA):c.2543T>C (p.Ile848Thr)
NM_001110556.2(FLNA):c.2565+1G>A rs786205186
NM_001110556.2(FLNA):c.2565+1G>C rs786205186
NM_001110556.2(FLNA):c.2566-6C>A
NM_001110556.2(FLNA):c.2584A>G (p.Ile862Val) rs1557178202
NM_001110556.2(FLNA):c.2613C>T (p.Asp871=) rs188212919
NM_001110556.2(FLNA):c.2614G>A (p.Ala872Thr) rs185503240
NM_001110556.2(FLNA):c.2617A>C (p.Ser873Arg)
NM_001110556.2(FLNA):c.2650C>T (p.Arg884Cys)
NM_001110556.2(FLNA):c.2659G>A (p.Val887Ile)
NM_001110556.2(FLNA):c.2706T>C (p.Ala902=) rs781842762
NM_001110556.2(FLNA):c.2725G>A (p.Val909Ile) rs199911951
NM_001110556.2(FLNA):c.2744C>A (p.Thr915Asn) rs782045915
NM_001110556.2(FLNA):c.2762del (p.Arg921fs) rs1569551736
NM_001110556.2(FLNA):c.2764G>C (p.Asp922His) rs1557178146
NM_001110556.2(FLNA):c.2791A>G (p.Asn931Asp) rs190437842
NM_001110556.2(FLNA):c.2792A>T (p.Asn931Ile) rs1557178134
NM_001110556.2(FLNA):c.2813C>T (p.Thr938Met) rs782180774
NM_001110556.2(FLNA):c.2825A>T (p.Gln942Leu)
NM_001110556.2(FLNA):c.2826+4G>A rs1037180469
NM_001110556.2(FLNA):c.2827-2A>C
NM_001110556.2(FLNA):c.2831C>T (p.Pro944Leu) rs782451202
NM_001110556.2(FLNA):c.2838C>T (p.Gly946=) rs782612987
NM_001110556.2(FLNA):c.2839G>A (p.Val947Ile) rs782239678
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.2858G>A (p.Gly953Glu)
NM_001110556.2(FLNA):c.287_291del (p.Arg96fs) rs863223297
NM_001110556.2(FLNA):c.2965C>A (p.Gln989Lys) rs1557178045
NM_001110556.2(FLNA):c.2974A>G (p.Thr992Ala) rs782445995
NM_001110556.2(FLNA):c.2981A>G (p.Lys994Arg)
NM_001110556.2(FLNA):c.29A>G (p.Gln10Arg) rs781988041
NM_001110556.2(FLNA):c.3035C>T (p.Ser1012Leu) rs17091204
NM_001110556.2(FLNA):c.3036G>A (p.Ser1012=) rs373908435
NM_001110556.2(FLNA):c.3045G>A (p.Ala1015=) rs370868704
NM_001110556.2(FLNA):c.3094C>T (p.Arg1032Cys) rs782546714
NM_001110556.2(FLNA):c.3107G>A (p.Arg1036His) rs782758177
NM_001110556.2(FLNA):c.3112G>A (p.Glu1038Lys) rs1187268269
NM_001110556.2(FLNA):c.3147C>T (p.Gly1049=) rs398123615
NM_001110556.2(FLNA):c.3224C>T (p.Pro1075Leu) rs782406278
NM_001110556.2(FLNA):c.3225G>A (p.Pro1075=) rs782292169
NM_001110556.2(FLNA):c.3255C>T (p.Pro1085=) rs782231907
NM_001110556.2(FLNA):c.3260G>A (p.Arg1087His) rs369668866
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.3286G>A (p.Gly1096Ser) rs782149159
NM_001110556.2(FLNA):c.3296_3304delinsTCGG (p.Gly1099fs) rs1603361195
NM_001110556.2(FLNA):c.3299T>G (p.Leu1100Arg)
NM_001110556.2(FLNA):c.3306G>T (p.Leu1102=) rs782062750
NM_001110556.2(FLNA):c.3308C>T (p.Thr1103Met) rs781970327
NM_001110556.2(FLNA):c.3323G>A (p.Cys1108Tyr) rs371677498
NM_001110556.2(FLNA):c.3330G>A (p.Ala1110=) rs781917512
NM_001110556.2(FLNA):c.3337G>A (p.Glu1113Lys) rs1222602089
NM_001110556.2(FLNA):c.333C>T (p.Leu111=) rs782684723
NM_001110556.2(FLNA):c.3378C>T (p.Tyr1126=) rs782643175
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.338T>C (p.Phe113Ser) rs1557180178
NM_001110556.2(FLNA):c.3416T>G (p.Leu1139Arg) rs782633080
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>A (p.Thr1143=) rs183899917
NM_001110556.2(FLNA):c.3429C>G (p.Thr1143=) rs183899917
NM_001110556.2(FLNA):c.3451A>G (p.Lys1151Glu)
NM_001110556.2(FLNA):c.3455C>T (p.Ala1152Val) rs1557177751
NM_001110556.2(FLNA):c.34G>T (p.Ala12Ser) rs868975259
NM_001110556.2(FLNA):c.3504C>T (p.Pro1168=) rs368009936
NM_001110556.2(FLNA):c.3514C>G (p.Arg1172Gly) rs1557177743
NM_001110556.2(FLNA):c.3522C>T (p.Thr1174=) rs373625856
NM_001110556.2(FLNA):c.3523G>A (p.Ala1175Thr) rs370202395
NM_001110556.2(FLNA):c.3529G>T (p.Glu1177Ter) rs1557177738
NM_001110556.2(FLNA):c.3529del (p.Glu1177fs) rs786205188
NM_001110556.2(FLNA):c.3557C>T (p.Ser1186Leu) rs137853312
NM_001110556.2(FLNA):c.3573G>A (p.Ala1191=) rs782300292
NM_001110556.2(FLNA):c.3588G>C (p.Glu1196Asp)
NM_001110556.2(FLNA):c.3597G>A (p.Ser1199=) rs200258756
NM_001110556.2(FLNA):c.3602C>T (p.Ala1201Val) rs201810442
NM_001110556.2(FLNA):c.3611C>T (p.Pro1204Leu) rs376726422
NM_001110556.2(FLNA):c.3612G>A (p.Pro1204=) rs782273962
NM_001110556.2(FLNA):c.3618G>A (p.Glu1206=)
NM_001110556.2(FLNA):c.3647C>T (p.Thr1216Met) rs781861717
NM_001110556.2(FLNA):c.3653C>G (p.Thr1218Ser)
NM_001110556.2(FLNA):c.3668C>T (p.Pro1223Leu) rs1060500716
NM_001110556.2(FLNA):c.3670C>T (p.Leu1224Phe) rs1557177690
NM_001110556.2(FLNA):c.3677C>T (p.Pro1226Leu)
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.3691G>A (p.Val1231Ile)
NM_001110556.2(FLNA):c.3695C>T (p.Thr1232Ile) rs782495669
NM_001110556.2(FLNA):c.3708C>T (p.Gly1236=) rs200363918
NM_001110556.2(FLNA):c.3717C>T (p.Pro1239=) rs372265042
NM_001110556.2(FLNA):c.373+10G>A rs368292402
NM_001110556.2(FLNA):c.373+1G>A rs863223296
NM_001110556.2(FLNA):c.3742C>T (p.Gln1248Ter)
NM_001110556.2(FLNA):c.3756G>A (p.Ala1252=) rs186619828
NM_001110556.2(FLNA):c.3763A>G (p.Thr1255Ala)
NM_001110556.2(FLNA):c.3767C>A (p.Ser1256Tyr)
NM_001110556.2(FLNA):c.3768C>T (p.Ser1256=) rs782528841
NM_001110556.2(FLNA):c.3769G>A (p.Gly1257Ser) rs781896277
NM_001110556.2(FLNA):c.3801C>T (p.Gly1267=)
NM_001110556.2(FLNA):c.3805+10C>T rs1603361041
NM_001110556.2(FLNA):c.3814del (p.Arg1272fs) rs1557177636
NM_001110556.2(FLNA):c.383C>T (p.Ala128Val) rs137853315
NM_001110556.2(FLNA):c.3843C>T (p.Asp1281=) rs367931067
NM_001110556.2(FLNA):c.3861G>T (p.Gln1287His) rs1557177627
NM_001110556.2(FLNA):c.3864C>T (p.Thr1288=) rs374068639
NM_001110556.2(FLNA):c.3865G>T (p.Gly1289Ter) rs1557177623
NM_001110556.2(FLNA):c.3872C>T (p.Pro1291Leu) rs137853319
NM_001110556.2(FLNA):c.3875_3888dup (p.Val1297fs) rs786205189
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.3915G>A (p.Thr1305=) rs201488545
NM_001110556.2(FLNA):c.3929A>G (p.Gln1310Arg) rs1557177601
NM_001110556.2(FLNA):c.3934C>T (p.Arg1312Cys) rs781928289
NM_001110556.2(FLNA):c.3939C>T (p.Gly1313=) rs374178910
NM_001110556.2(FLNA):c.3940G>A (p.Asp1314Asn) rs1557177584
NM_001110556.2(FLNA):c.3947T>C (p.Met1316Thr)
NM_001110556.2(FLNA):c.3979+5G>A rs1569551642
NM_001110556.2(FLNA):c.3980-5_3990dup rs786205190
NM_001110556.2(FLNA):c.3985C>T (p.His1329Tyr) rs782746289
NM_001110556.2(FLNA):c.3991G>A (p.Val1331Met) rs1569551635
NM_001110556.2(FLNA):c.3995A>G (p.Asp1332Gly) rs200615848
NM_001110556.2(FLNA):c.3996C>T (p.Asp1332=) rs782414490
NM_001110556.2(FLNA):c.4006del (p.Asp1336fs) rs786205191
NM_001110556.2(FLNA):c.4017C>T (p.Pro1339=) rs781934382
NM_001110556.2(FLNA):c.4018G>A (p.Val1340Met) rs782342052
NM_001110556.2(FLNA):c.4023C>T (p.Pro1341=) rs1375431086
NM_001110556.2(FLNA):c.4060G>A (p.Asp1354Asn) rs377390031
NM_001110556.2(FLNA):c.4070G>A (p.Arg1357Gln) rs782490288
NM_001110556.2(FLNA):c.4075C>T (p.Arg1359Cys) rs369768801
NM_001110556.2(FLNA):c.4082A>G (p.His1361Arg) rs782774182
NM_001110556.2(FLNA):c.4106C>T (p.Thr1369Ile) rs376774130
NM_001110556.2(FLNA):c.410T>A (p.Ile137Asn) rs1569551877
NM_001110556.2(FLNA):c.4121A>G (p.Asn1374Ser)
NM_001110556.2(FLNA):c.4142+1G>A rs1603360906
NM_001110556.2(FLNA):c.4143-1G>T rs1557177485
NM_001110556.2(FLNA):c.4147del (p.Ala1383fs) rs863223299
NM_001110556.2(FLNA):c.4154C>T (p.Thr1385Met)
NM_001110556.2(FLNA):c.4155G>T (p.Thr1385=) rs782110572
NM_001110556.2(FLNA):c.4157G>A (p.Gly1386Asp)
NM_001110556.2(FLNA):c.4174G>A (p.Val1392Ile) rs1603360869
NM_001110556.2(FLNA):c.4179G>A (p.Glu1393=) rs182074603
NM_001110556.2(FLNA):c.4207A>G (p.Met1403Val) rs781976719
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.4236C>T (p.Val1412=) rs782589572
NM_001110556.2(FLNA):c.423C>T (p.Ile141=) rs782198156
NM_001110556.2(FLNA):c.4263C>T (p.Thr1421=) rs398123618
NM_001110556.2(FLNA):c.4294C>A (p.Gln1432Lys) rs192337215
NM_001110556.2(FLNA):c.4303+7_4303+9del
NM_001110556.2(FLNA):c.4314C>G (p.Phe1438Leu) rs1557177412
NM_001110556.2(FLNA):c.4327C>A (p.His1443Asn) rs863223617
NM_001110556.2(FLNA):c.4343C>T (p.Ala1448Val) rs201886752
NM_001110556.2(FLNA):c.4344G>A (p.Ala1448=) rs782529594
NM_001110556.2(FLNA):c.4368C>T (p.Pro1456=) rs782080545
NM_001110556.2(FLNA):c.441C>T (p.His147=) rs781951563
NM_001110556.2(FLNA):c.4420G>A (p.Asp1474Asn) rs782129236
NM_001110556.2(FLNA):c.4424C>T (p.Thr1475Ile) rs1557177388
NM_001110556.2(FLNA):c.4444C>T (p.Pro1482Ser) rs782349011
NM_001110556.2(FLNA):c.4446_4447dup (p.Leu1483fs) rs398123620
NM_001110556.2(FLNA):c.444C>T (p.Tyr148=) rs935727195
NM_001110556.2(FLNA):c.4450C>T (p.Gln1484Ter) rs1057516198
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356
NM_001110556.2(FLNA):c.4452G>C (p.Gln1484His) rs1569551606
NM_001110556.2(FLNA):c.4457A>T (p.Lys1486Ile) rs188943867
NM_001110556.2(FLNA):c.4465G>C (p.Gly1489Arg) rs782276039
NM_001110556.2(FLNA):c.4474+3G>A
NM_001110556.2(FLNA):c.4475-4C>T rs199652065
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.4517C>T (p.Thr1506Ile) rs797045579
NM_001110556.2(FLNA):c.4528A>C (p.Asn1510His) rs1557177310
NM_001110556.2(FLNA):c.4533T>C (p.Tyr1511=) rs191786597
NM_001110556.2(FLNA):c.4544G>A (p.Arg1515Gln) rs782597696
NM_001110556.2(FLNA):c.4551G>C (p.Gly1517=) rs370476531
NM_001110556.2(FLNA):c.4577G>A (p.Gly1526Glu) rs782649462
NM_001110556.2(FLNA):c.4594C>T (p.Arg1532Trp) rs782563345
NM_001110556.2(FLNA):c.4595G>A (p.Arg1532Gln)
NM_001110556.2(FLNA):c.4596_4598+5del rs1557177279
NM_001110556.2(FLNA):c.4598+8G>C rs112379782
NM_001110556.2(FLNA):c.4617_4618del (p.Leu1540fs) rs786205194
NM_001110556.2(FLNA):c.461T>C (p.Met154Thr) rs782240483
NM_001110556.2(FLNA):c.464G>C (p.Trp155Ser) rs1557179668
NM_001110556.2(FLNA):c.4660G>A (p.Gly1554Arg) rs1603360542
NM_001110556.2(FLNA):c.4696G>A (p.Val1566Met) rs1181500076
NM_001110556.2(FLNA):c.4710C>A (p.Ile1570=)
NM_001110556.2(FLNA):c.4711G>A (p.Asp1571Asn)
NM_001110556.2(FLNA):c.4721_4732del (p.Asp1574_Glu1577del) rs1557177229
NM_001110556.2(FLNA):c.4726G>A (p.Gly1576Arg) rs797045044
NM_001110556.2(FLNA):c.4737G>C (p.Leu1579=) rs201904661
NM_001110556.2(FLNA):c.4755+5G>A rs199803218
NM_001110556.2(FLNA):c.4772C>T (p.Pro1591Leu) rs372729831
NM_001110556.2(FLNA):c.4824C>A (p.Tyr1608Ter)
NM_001110556.2(FLNA):c.4824C>T (p.Tyr1608=) rs781789823
NM_001110556.2(FLNA):c.4825G>A (p.Val1609Met) rs782314291
NM_001110556.2(FLNA):c.4834G>C (p.Val1612Leu) rs782082407
NM_001110556.2(FLNA):c.4840_4852del (p.Gly1614fs) rs1557177086
NM_001110556.2(FLNA):c.4866C>T (p.Tyr1622=) rs200835571
NM_001110556.2(FLNA):c.487G>A (p.Ala163Thr) rs1569551875
NM_001110556.2(FLNA):c.4899C>T (p.Arg1633=) rs781846478
NM_001110556.2(FLNA):c.4903C>T (p.Arg1635Cys) rs1400230946
NM_001110556.2(FLNA):c.4904G>A (p.Arg1635His)
NM_001110556.2(FLNA):c.4908C>T (p.Ala1636=) rs367979917
NM_001110556.2(FLNA):c.4916C>T (p.Thr1639Ile)
NM_001110556.2(FLNA):c.4920G>A (p.Gly1640=) rs61741041
NM_001110556.2(FLNA):c.4935C>A (p.Cys1645Ter) rs786205197
NM_001110556.2(FLNA):c.4943del (p.Thr1648fs) rs786205198
NM_001110556.2(FLNA):c.4945+3G>A rs372673802
NM_001110556.2(FLNA):c.494A>G (p.Lys165Arg) rs1569551874
NM_001110556.2(FLNA):c.5009C>T (p.Thr1670Met) rs1381802174
NM_001110556.2(FLNA):c.5019_5020TG[1] (p.Val1674fs) rs786205199
NM_001110556.2(FLNA):c.5033C>T (p.Ala1678Val) rs1382817700
NM_001110556.2(FLNA):c.5054C>G (p.Thr1685Arg)
NM_001110556.2(FLNA):c.5055G>A (p.Thr1685=) rs372863999
NM_001110556.2(FLNA):c.5059A>G (p.Thr1687Ala) rs782469665
NM_001110556.2(FLNA):c.5075_5092dup (p.Asp1692_Asp1697dup) rs781960834
NM_001110556.2(FLNA):c.5098G>A (p.Val1700Met) rs782351877
NM_001110556.2(FLNA):c.5116G>A (p.Gly1706Ser) rs781993685
NM_001110556.2(FLNA):c.5127C>A (p.Asp1709Glu) rs1557176627
NM_001110556.2(FLNA):c.5138C>T (p.Thr1713Met) rs782555986
NM_001110556.2(FLNA):c.5151G>A (p.Pro1717=) rs782646183
NM_001110556.2(FLNA):c.5160C>T (p.Tyr1720=) rs782152127
NM_001110556.2(FLNA):c.5161G>A (p.Val1721Ile)
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.5217G>A (p.Thr1739=) rs387907371
NM_001110556.2(FLNA):c.5218-4G>A rs370196495
NM_001110556.2(FLNA):c.5251C>T (p.Pro1751Ser) rs56102764
NM_001110556.2(FLNA):c.5255T>C (p.Leu1752Pro) rs1363194253
NM_001110556.2(FLNA):c.5271G>A (p.Leu1757=) rs782031542
NM_001110556.2(FLNA):c.5283C>T (p.Tyr1761=) rs782313331
NM_001110556.2(FLNA):c.5290G>A (p.Ala1764Thr) rs57108893
NM_001110556.2(FLNA):c.5292C>T (p.Ala1764=) rs1027131950
NM_001110556.2(FLNA):c.5313+4C>T rs377330443
NM_001110556.2(FLNA):c.5318C>T (p.Pro1773Leu)
NM_001110556.2(FLNA):c.5342A>G (p.Asn1781Ser) rs373089783
NM_001110556.2(FLNA):c.537G>C (p.Lys179Asn) rs1557179655
NM_001110556.2(FLNA):c.5407G>A (p.Glu1803Lys)
NM_001110556.2(FLNA):c.5416+6T>G
NM_001110556.2(FLNA):c.5428A>G (p.Met1810Val)
NM_001110556.2(FLNA):c.543G>A (p.Pro181=) rs201486643
NM_001110556.2(FLNA):c.543G>C (p.Pro181=) rs201486643
NM_001110556.2(FLNA):c.544C>T (p.Gln182Ter) rs137853310
NM_001110556.2(FLNA):c.546G>C (p.Gln182His) rs1557179648
NM_001110556.2(FLNA):c.5482G>A (p.Val1828Met) rs782448596
NM_001110556.2(FLNA):c.5559A>C (p.Gly1853=) rs372028899
NM_001110556.2(FLNA):c.5589C>T (p.Val1863=) rs200787122
NM_001110556.2(FLNA):c.5591A>G (p.Asn1864Ser) rs782095418
NM_001110556.2(FLNA):c.5610C>T (p.Ala1870=) rs782040591
NM_001110556.2(FLNA):c.5616G>C (p.Gly1872=) rs782204300
NM_001110556.2(FLNA):c.5643del (p.Asn1881fs) rs1569551502
NM_001110556.2(FLNA):c.5658C>T (p.Phe1886=) rs182894587
NM_001110556.2(FLNA):c.5659A>G (p.Thr1887Ala) rs886039107
NM_001110556.2(FLNA):c.5661C>T (p.Thr1887=) rs782253233
NM_001110556.2(FLNA):c.5686+1G>C rs1557176315
NM_001110556.2(FLNA):c.569G>A (p.Arg190Gln) rs782447567
NM_001110556.2(FLNA):c.5710G>A (p.Gly1904Ser) rs782549964
NM_001110556.2(FLNA):c.5714C>T (p.Pro1905Leu) rs781794030
NM_001110556.2(FLNA):c.5715G>A (p.Pro1905=) rs367674709
NM_001110556.2(FLNA):c.5760C>A (p.Cys1920Ter)
NM_001110556.2(FLNA):c.5763C>T (p.Ser1921=) rs781929535
NM_001110556.2(FLNA):c.5786C>T (p.Pro1929Leu) rs782359458
NM_001110556.2(FLNA):c.5814C>T (p.Tyr1938=) rs140084263
NM_001110556.2(FLNA):c.5861-9C>T rs782153045
NM_001110556.2(FLNA):c.586C>T (p.Arg196Trp) rs137853317
NM_001110556.2(FLNA):c.5875C>T (p.Arg1959Cys) rs10458342
NM_001110556.2(FLNA):c.5876G>A (p.Arg1959His)
NM_001110556.2(FLNA):c.5879dup (p.Met1960fs) rs1603359464
NM_001110556.2(FLNA):c.5911A>T (p.Ile1971Phe) rs190712778
NM_001110556.2(FLNA):c.5921A>G (p.Asn1974Ser)
NM_001110556.2(FLNA):c.5951C>T (p.Thr1984Met) rs782639698
NM_001110556.2(FLNA):c.5952G>A (p.Thr1984=) rs782618234
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.5973G>A (p.Ser1991=) rs375252292
NM_001110556.2(FLNA):c.5978G>A (p.Arg1993Gln) rs782401919
NM_001110556.2(FLNA):c.5978G>C (p.Arg1993Pro) rs782401919
NM_001110556.2(FLNA):c.5988_5989del (p.Cys1997fs) rs1060500718
NM_001110556.2(FLNA):c.6001C>T (p.Arg2001Trp) rs782160183
NM_001110556.2(FLNA):c.6002G>A (p.Arg2001Gln) rs1483960506
NM_001110556.2(FLNA):c.6023-10C>G rs72616474
NM_001110556.2(FLNA):c.6047C>T (p.Thr2016Met) rs781946802
NM_001110556.2(FLNA):c.6048G>A (p.Thr2016=) rs782745205
NM_001110556.2(FLNA):c.6079G>A (p.Gly2027Ser)
NM_001110556.2(FLNA):c.60C>T (p.Gly20=) rs1557180245
NM_001110556.2(FLNA):c.6107C>T (p.Pro2036Leu) rs1557176131
NM_001110556.2(FLNA):c.6178G>T (p.Gly2060Cys)
NM_001110556.2(FLNA):c.6199G>A (p.Glu2067Lys) rs1557176102
NM_001110556.2(FLNA):c.619C>T (p.Pro207Ser) rs1603363256
NM_001110556.2(FLNA):c.61G>T (p.Val21Phe) rs1223954254
NM_001110556.2(FLNA):c.620C>A (p.Pro207Gln)
NM_001110556.2(FLNA):c.6217C>T (p.Arg2073Cys) rs782069230
NM_001110556.2(FLNA):c.6218G>A (p.Arg2073His) rs781956012
NM_001110556.2(FLNA):c.6219C>T (p.Arg2073=) rs782365685
NM_001110556.2(FLNA):c.622+10C>T rs781889769
NM_001110556.2(FLNA):c.6220G>A (p.Asp2074Asn) rs371611462
NM_001110556.2(FLNA):c.623-20_623-12del rs786205200
NM_001110556.2(FLNA):c.623-3C>G rs398123622
NM_001110556.2(FLNA):c.6238C>T (p.Leu2080Phe) rs782157246
NM_001110556.2(FLNA):c.6268G>C (p.Val2090Leu) rs968230475
NM_001110556.2(FLNA):c.6269T>C (p.Val2090Ala) rs1569551477
NM_001110556.2(FLNA):c.6273C>T (p.Asp2091=) rs781913265
NM_001110556.2(FLNA):c.6289C>T (p.Leu2097=) rs782255283
NM_001110556.2(FLNA):c.62_64dup (p.Val21dup) rs782721874
NM_001110556.2(FLNA):c.6307A>G (p.Arg2103Gly) rs370277156
NM_001110556.2(FLNA):c.6310G>A (p.Val2104Ile) rs782722036
NM_001110556.2(FLNA):c.6314C>G (p.Thr2105Ser) rs200200745
NM_001110556.2(FLNA):c.6316T>C (p.Tyr2106His)