ClinVar Miner

List of variants reported as uncertain significance for Ehlers-Danlos syndrome by Invitae

Included ClinVar conditions (35):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1085
Download table as spreadsheet
HGVS dbSNP
NC_000001.10:g.(?_1146915)_(1168668_?)dup
NC_000001.10:g.(?_11994817)_(11994932_?)dup
NC_000001.10:g.(?_12009820)_(12012802_?)del
NC_000001.10:g.(?_12020703)_(12027148_?)dup
NC_000002.11:g.(?_189839196)_(189839314_?)dup
NC_000002.11:g.(?_189964813)_(189964885_?)del
NC_000005.9:g.(?_178770748)_(178772349_?)dup
NC_000009.11:g.(?_134379574)_(138678377_?)dup
NC_000009.11:g.(?_137533651)_(137534142_?)dup
NC_000009.11:g.(?_137582738)_(137582945_?)del
NC_000009.11:g.(?_137619092)_(137620673_?)del
NC_000009.11:g.(?_137721802)_(137734169_?)dup
NC_000009.11:g.(?_137733983)_(137734169_?)del
NC_000023.10:g.(?_153577197)_(153579429_?)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)_(153650075_?)dup
NC_000023.10:g.(?_153579929)_(153649363_?)dup
NM_000089.3(COL1A2):c.1048C>T (p.Pro350Ser) rs201463779
NM_000089.3(COL1A2):c.1148C>A (p.Pro383His) rs193922159
NM_000089.3(COL1A2):c.1228G>T (p.Ala410Ser)
NM_000089.3(COL1A2):c.1246G>A (p.Val416Ile) rs550867796
NM_000089.3(COL1A2):c.1295G>A (p.Arg432Gln) rs139446305
NM_000089.3(COL1A2):c.133-3C>A rs1562897561
NM_000089.3(COL1A2):c.1404+4A>C
NM_000089.3(COL1A2):c.1474A>T (p.Ile492Phe)
NM_000089.3(COL1A2):c.1654C>T (p.Pro552Ser) rs763695362
NM_000089.3(COL1A2):c.1780C>G (p.Pro594Ala) rs1396856908
NM_000089.3(COL1A2):c.1817T>C (p.Ile606Thr)
NM_000089.3(COL1A2):c.1908T>A (p.Ser636=)
NM_000089.3(COL1A2):c.1964G>A (p.Gly655Glu) rs1554397275
NM_000089.3(COL1A2):c.1971+3A>T
NM_000089.3(COL1A2):c.1971+6T>C rs1345215762
NM_000089.3(COL1A2):c.1976A>G (p.Glu659Gly) rs766488808
NM_000089.3(COL1A2):c.2023C>T (p.Arg675Cys)
NM_000089.3(COL1A2):c.2123G>C (p.Arg708Pro) rs72658163
NM_000089.3(COL1A2):c.2148_2156delinsACGTGG (p.Val717_Pro719delinsArgGly)
NM_000089.3(COL1A2):c.2168A>G (p.Asn723Ser) rs189374343
NM_000089.3(COL1A2):c.2168A>T (p.Asn723Ile)
NM_000089.3(COL1A2):c.2275G>A (p.Val759Ile) rs200501072
NM_000089.3(COL1A2):c.2329C>T (p.Arg777Cys)
NM_000089.3(COL1A2):c.2456G>A (p.Arg819His) rs773985005
NM_000089.3(COL1A2):c.2527G>A (p.Ala843Thr)
NM_000089.3(COL1A2):c.2596C>G (p.Leu866Val)
NM_000089.3(COL1A2):c.2663C>G (p.Ala888Gly)
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.2842C>A (p.Arg948Ser) rs779303344
NM_000089.3(COL1A2):c.2843G>A (p.Arg948His) rs201168934
NM_000089.3(COL1A2):c.286A>G (p.Met96Val) rs763509640
NM_000089.3(COL1A2):c.292C>T (p.Pro98Ser)
NM_000089.3(COL1A2):c.2960T>C (p.Val987Ala)
NM_000089.3(COL1A2):c.2968G>T (p.Ala990Ser)
NM_000089.3(COL1A2):c.2997+6T>A
NM_000089.3(COL1A2):c.3047C>A (p.Pro1016His) rs377278762
NM_000089.3(COL1A2):c.3209A>C (p.His1070Pro) rs767399660
NM_000089.3(COL1A2):c.3311G>A (p.Ser1104Asn) rs771438684
NM_000089.3(COL1A2):c.3319G>T (p.Gly1107Cys)
NM_000089.3(COL1A2):c.3338A>C (p.Asp1113Ala) rs1562908093
NM_000089.3(COL1A2):c.3368G>A (p.Arg1123His)
NM_000089.3(COL1A2):c.3368G>T (p.Arg1123Leu) rs145541630
NM_000089.3(COL1A2):c.3526+4G>A rs1284156162
NM_000089.3(COL1A2):c.3566A>G (p.Asp1189Gly) rs754575611
NM_000089.3(COL1A2):c.3625G>A (p.Glu1209Lys)
NM_000089.3(COL1A2):c.3632T>C (p.Ile1211Thr) rs201746779
NM_000089.3(COL1A2):c.3656G>A (p.Ser1219Asn) rs1554398702
NM_000089.3(COL1A2):c.3673C>T (p.His1225Tyr) rs535142482
NM_000089.3(COL1A2):c.3815G>C (p.Cys1272Ser) rs1554398835
NM_000089.3(COL1A2):c.3835A>G (p.Met1279Val)
NM_000089.3(COL1A2):c.3853A>C (p.Asn1285His) rs144797861
NM_000089.3(COL1A2):c.3941T>C (p.Val1314Ala) rs1421507234
NM_000089.3(COL1A2):c.4036C>T (p.Pro1346Ser) rs369008932
NM_000089.3(COL1A2):c.4063G>T (p.Glu1355Ter)
NM_000089.3(COL1A2):c.430G>A (p.Asp144Asn) rs981008420
NM_000089.3(COL1A2):c.52T>C (p.Cys18Arg) rs200278401
NM_000089.3(COL1A2):c.647G>A (p.Arg216His)
NM_000089.3(COL1A2):c.671G>A (p.Arg224His) rs771139732
NM_000089.3(COL1A2):c.701G>A (p.Arg234His) rs376341785
NM_000089.3(COL1A2):c.781C>A (p.Pro261Thr)
NM_000089.3(COL1A2):c.781C>G (p.Pro261Ala)
NM_000089.3(COL1A2):c.880G>A (p.Val294Ile) rs145693444
NM_000089.3(COL1A2):c.949G>A (p.Val317Ile)
NM_000090.3(COL3A1):c.110A>T (p.Gln37Leu) rs1060500205
NM_000090.3(COL3A1):c.1129G>A (p.Ala377Thr) rs1248348633
NM_000090.3(COL3A1):c.1165A>T (p.Asn389Tyr) rs200394946
NM_000090.3(COL3A1):c.1198C>T (p.Pro400Ser) rs1229093142
NM_000090.3(COL3A1):c.119C>T (p.Ala40Val) rs201380807
NM_000090.3(COL3A1):c.1201G>A (p.Ala401Thr)
NM_000090.3(COL3A1):c.1297G>A (p.Glu433Lys) rs150670470
NM_000090.3(COL3A1):c.1336C>T (p.Arg446Cys)
NM_000090.3(COL3A1):c.1337G>A (p.Arg446His) rs149852181
NM_000090.3(COL3A1):c.1347+6T>C
NM_000090.3(COL3A1):c.13G>A (p.Val5Met) rs1461198652
NM_000090.3(COL3A1):c.1435C>T (p.Pro479Ser)
NM_000090.3(COL3A1):c.1496T>C (p.Ile499Thr) rs1001748912
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.1585G>A (p.Val529Ile) rs140257722
NM_000090.3(COL3A1):c.1594G>A (p.Gly532Ser)
NM_000090.3(COL3A1):c.1642G>A (p.Asp548Asn) rs1293397335
NM_000090.3(COL3A1):c.1662C>T (p.Pro554=) rs373963384
NM_000090.3(COL3A1):c.1694C>A (p.Pro565His) rs144260440
NM_000090.3(COL3A1):c.1761+6T>C
NM_000090.3(COL3A1):c.178G>A (p.Val60Ile) rs762028131
NM_000090.3(COL3A1):c.1804C>G (p.Pro602Ala)
NM_000090.3(COL3A1):c.1820C>T (p.Pro607Leu) rs1039226542
NM_000090.3(COL3A1):c.1856C>T (p.Pro619Leu) rs373838193
NM_000090.3(COL3A1):c.1869+3A>C
NM_000090.3(COL3A1):c.1885A>G (p.Lys629Glu)
NM_000090.3(COL3A1):c.1895C>T (p.Thr632Ile)
NM_000090.3(COL3A1):c.1972G>A (p.Glu658Lys) rs189846410
NM_000090.3(COL3A1):c.1977+5G>C rs1553508544
NM_000090.3(COL3A1):c.198A>G (p.Ile66Met) rs372269408
NM_000090.3(COL3A1):c.2022+6A>T rs368117488
NM_000090.3(COL3A1):c.203A>G (p.Asp68Gly) rs376603102
NM_000090.3(COL3A1):c.2048G>A (p.Arg683His) rs753162027
NM_000090.3(COL3A1):c.2074C>A (p.Pro692Thr) rs1160258883
NM_000090.3(COL3A1):c.2107C>T (p.Pro703Ser) rs780123051
NM_000090.3(COL3A1):c.2110G>A (p.Glu704Lys) rs863223362
NM_000090.3(COL3A1):c.2156C>G (p.Ala719Gly) rs1559058681
NM_000090.3(COL3A1):c.217G>C (p.Asp73His) rs200246388
NM_000090.3(COL3A1):c.2220G>A (p.Lys740=) rs541557925
NM_000090.3(COL3A1):c.2241C>T (p.Gly747=) rs745440847
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.2351C>A (p.Ala784Asp)
NM_000090.3(COL3A1):c.2399G>A (p.Arg800Lys) rs199564715
NM_000090.3(COL3A1):c.242T>C (p.Phe81Ser)
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.2489C>T (p.Pro830Leu) rs886038849
NM_000090.3(COL3A1):c.2498A>G (p.Lys833Arg) rs371344739
NM_000090.3(COL3A1):c.2522T>C (p.Val841Ala)
NM_000090.3(COL3A1):c.2606C>A (p.Pro869His) rs794728052
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.2723C>T (p.Ala908Val) rs144036995
NM_000090.3(COL3A1):c.2724G>A (p.Ala908=) rs754015151
NM_000090.3(COL3A1):c.272C>T (p.Pro91Leu) rs534898281
NM_000090.3(COL3A1):c.2819C>A (p.Pro940Gln) rs1221479337
NM_000090.3(COL3A1):c.2839C>T (p.Leu947Phe) rs1060500198
NM_000090.3(COL3A1):c.2848G>A (p.Ala950Thr) rs1170896025
NM_000090.3(COL3A1):c.289C>G (p.Arg97Gly) rs768671254
NM_000090.3(COL3A1):c.290G>A (p.Arg97His) rs1197947308
NM_000090.3(COL3A1):c.2927T>C (p.Val976Ala) rs886038939
NM_000090.3(COL3A1):c.2963T>A (p.Leu988His) rs770525372
NM_000090.3(COL3A1):c.2989C>T (p.Pro997Ser) rs1060500202
NM_000090.3(COL3A1):c.3071G>A (p.Arg1024Gln) rs1484867480
NM_000090.3(COL3A1):c.3098A>T (p.Asp1033Val) rs1060500206
NM_000090.3(COL3A1):c.3100C>T (p.Arg1034Cys) rs1178112512
NM_000090.3(COL3A1):c.316G>A (p.Gly106Ser) rs180938313
NM_000090.3(COL3A1):c.3170C>G (p.Pro1057Arg)
NM_000090.3(COL3A1):c.3200G>A (p.Ser1067Asn) rs886039067
NM_000090.3(COL3A1):c.3208G>T (p.Ala1070Ser) rs376738516
NM_000090.3(COL3A1):c.3245G>A (p.Arg1082Gln) rs367754862
NM_000090.3(COL3A1):c.3256-43T>G (p.Pro1085_Gly1086insVCVYMTSIQNMFLK) rs587779667
NM_000090.3(COL3A1):c.3325C>G (p.Arg1109Gly) rs112371422
NM_000090.3(COL3A1):c.3326G>A (p.Arg1109Gln) rs730880062
NM_000090.3(COL3A1):c.3413C>T (p.Pro1138Leu) rs201880122
NM_000090.3(COL3A1):c.3466C>T (p.His1156Tyr)
NM_000090.3(COL3A1):c.3474_3491dup (p.Ile1160_Pro1165dup)
NM_000090.3(COL3A1):c.349C>A (p.Pro117Thr)
NM_000090.3(COL3A1):c.3515G>C (p.Arg1172Thr) rs1553509668
NM_000090.3(COL3A1):c.3566C>T (p.Pro1189Leu) rs752598062
NM_000090.3(COL3A1):c.3574G>A (p.Ala1192Thr)
NM_000090.3(COL3A1):c.3593G>A (p.Gly1198Asp)
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.3653C>T (p.Pro1218Leu) rs763901831
NM_000090.3(COL3A1):c.3694G>A (p.Asp1232Asn) rs147663769
NM_000090.3(COL3A1):c.3775G>A (p.Ala1259Thr) rs776478974
NM_000090.3(COL3A1):c.3796A>C (p.Lys1266Gln)
NM_000090.3(COL3A1):c.3808C>A (p.Pro1270Thr)
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.4075C>A (p.Leu1359Ile) rs1400489265
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.4165G>T (p.Ala1389Ser) rs202022204
NM_000090.3(COL3A1):c.4254+3A>G rs376799861
NM_000090.3(COL3A1):c.4257A>G (p.Lys1419=)
NM_000090.3(COL3A1):c.4295G>T (p.Arg1432Leu) rs772428340
NM_000090.3(COL3A1):c.4301G>A (p.Arg1434His)
NM_000090.3(COL3A1):c.4319C>T (p.Pro1440Leu) rs1553510005
NM_000090.3(COL3A1):c.4327G>A (p.Asp1443Asn) rs1553510008
NM_000090.3(COL3A1):c.4346T>C (p.Ile1449Thr) rs932369090
NM_000090.3(COL3A1):c.4360C>T (p.Gln1454Ter)
NM_000090.3(COL3A1):c.4382G>T (p.Gly1461Val)
NM_000090.3(COL3A1):c.464A>G (p.Tyr155Cys) rs1160176510
NM_000090.3(COL3A1):c.469T>A (p.Ser157Thr)
NM_000090.3(COL3A1):c.472T>A (p.Tyr158Asn) rs756125442
NM_000090.3(COL3A1):c.515A>C (p.Tyr172Ser) rs771654029
NM_000090.3(COL3A1):c.528+5G>A rs794728038
NM_000090.3(COL3A1):c.546C>A (p.Pro182=)
NM_000090.3(COL3A1):c.554C>G (p.Pro185Arg) rs886038977
NM_000090.3(COL3A1):c.55A>G (p.Thr19Ala)
NM_000090.3(COL3A1):c.560C>T (p.Thr187Ile) rs371583734
NM_000090.3(COL3A1):c.624A>G (p.Gln208=)
NM_000090.3(COL3A1):c.721G>A (p.Glu241Lys) rs1553507432
NM_000090.3(COL3A1):c.752A>G (p.Lys251Arg) rs151148197
NM_000090.3(COL3A1):c.838G>A (p.Ala280Thr)
NM_000090.3(COL3A1):c.877A>G (p.Asn293Asp) rs1131691328
NM_000090.3(COL3A1):c.898-14A>G rs763316592
NM_000090.3(COL3A1):c.91G>C (p.Gly31Arg) rs374537884
NM_000093.4(COL5A1):c.1048T>C (p.Ser350Pro)
NM_000093.4(COL5A1):c.1052C>A (p.Pro351Gln)
NM_000093.4(COL5A1):c.1075G>A (p.Glu359Lys)
NM_000093.4(COL5A1):c.110-3C>G rs1554780148
NM_000093.4(COL5A1):c.1114G>A (p.Ala372Thr)
NM_000093.4(COL5A1):c.1120G>A (p.Ala374Thr)
NM_000093.4(COL5A1):c.1144G>A (p.Asp382Asn)
NM_000093.4(COL5A1):c.1147A>G (p.Thr383Ala) rs747758069
NM_000093.4(COL5A1):c.1175C>T (p.Pro392Leu) rs1290737803
NM_000093.4(COL5A1):c.1228C>T (p.Arg410Trp)
NM_000093.4(COL5A1):c.1239C>G (p.Asp413Glu)
NM_000093.4(COL5A1):c.1240G>A (p.Glu414Lys)
NM_000093.4(COL5A1):c.1246_1257TACTACGACCCC[1] (p.416_419YYDP[1]) rs745934765
NM_000093.4(COL5A1):c.1246_1257TACTACGACCCC[3] (p.416_419YYDP[3])
NM_000093.4(COL5A1):c.1264G>C (p.Asp422His) rs760798318
NM_000093.4(COL5A1):c.126_128del (p.Leu43del) rs1564390373
NM_000093.4(COL5A1):c.1271C>G (p.Thr424Ser) rs752619850
NM_000093.4(COL5A1):c.1280C>T (p.Pro427Leu) rs751337133
NM_000093.4(COL5A1):c.1283C>T (p.Ser428Leu) rs770793962
NM_000093.4(COL5A1):c.1291G>A (p.Gly431Arg) rs962170388
NM_000093.4(COL5A1):c.1292G>A (p.Gly431Glu)
NM_000093.4(COL5A1):c.1295C>T (p.Pro432Leu) rs140943202
NM_000093.4(COL5A1):c.1303C>G (p.Pro435Ala) rs377488010
NM_000093.4(COL5A1):c.1307C>T (p.Ala436Val) rs144269434
NM_000093.4(COL5A1):c.1316A>T (p.Asp439Val) rs1060502244
NM_000093.4(COL5A1):c.1333-6_1333-5insAGATTGTC
NM_000093.4(COL5A1):c.1340G>A (p.Gly447Glu)
NM_000093.4(COL5A1):c.1345C>T (p.Arg449Trp) rs374020067
NM_000093.4(COL5A1):c.1352A>T (p.Glu451Val) rs1060502243
NM_000093.4(COL5A1):c.1383C>G (p.Ile461Met)
NM_000093.4(COL5A1):c.1384G>C (p.Glu462Gln)
NM_000093.4(COL5A1):c.1388C>T (p.Pro463Leu) rs201375465
NM_000093.4(COL5A1):c.1389+7A>T rs1281999280
NM_000093.4(COL5A1):c.1402G>A (p.Glu468Lys) rs754948598
NM_000093.4(COL5A1):c.1429G>A (p.Ala477Thr) rs774936702
NM_000093.4(COL5A1):c.1442G>T (p.Gly481Val)
NM_000093.4(COL5A1):c.145C>T (p.His49Tyr) rs372168541
NM_000093.4(COL5A1):c.1462C>T (p.Pro488Ser) rs1238395732
NM_000093.4(COL5A1):c.149A>G (p.Asn50Ser) rs79138021
NM_000093.4(COL5A1):c.1507C>T (p.Arg503Cys) rs781485753
NM_000093.4(COL5A1):c.1508G>A (p.Arg503His)
NM_000093.4(COL5A1):c.1540G>A (p.Gly514Ser) rs878853652
NM_000093.4(COL5A1):c.1561A>G (p.Met521Val) rs535161301
NM_000093.4(COL5A1):c.1569+6T>C
NM_000093.4(COL5A1):c.1590C>T (p.Gly530=) rs769010469
NM_000093.4(COL5A1):c.1591G>A (p.Asp531Asn)
NM_000093.4(COL5A1):c.1595C>T (p.Ala532Val) rs369000939
NM_000093.4(COL5A1):c.1637C>T (p.Ala546Val) rs557361751
NM_000093.4(COL5A1):c.1726C>T (p.Pro576Ser) rs763246328
NM_000093.4(COL5A1):c.1754C>T (p.Pro585Leu) rs530442560
NM_000093.4(COL5A1):c.1787T>C (p.Val596Ala) rs754773665
NM_000093.4(COL5A1):c.1805C>T (p.Pro602Leu) rs749007253
NM_000093.4(COL5A1):c.1816C>T (p.Pro606Ser)
NM_000093.4(COL5A1):c.1831C>T (p.Arg611Trp) rs147329970
NM_000093.4(COL5A1):c.1832G>A (p.Arg611Gln)
NM_000093.4(COL5A1):c.1850C>T (p.Ala617Val)
NM_000093.4(COL5A1):c.1882-5delT rs1554793544
NM_000093.4(COL5A1):c.1888C>T (p.Arg630Trp) rs577618553
NM_000093.4(COL5A1):c.1920C>T (p.Gly640=) rs781663334
NM_000093.4(COL5A1):c.1923G>T (p.Glu641Asp)
NM_000093.4(COL5A1):c.1926G>T (p.Lys642Asn) rs918992441
NM_000093.4(COL5A1):c.1970C>T (p.Pro657Leu) rs149912828
NM_000093.4(COL5A1):c.197G>C (p.Arg66Pro)
NM_000093.4(COL5A1):c.2042G>A (p.Arg681His)
NM_000093.4(COL5A1):c.2088C>T (p.Pro696=) rs146757272
NM_000093.4(COL5A1):c.2092_2093delinsCA (p.Val698His) rs1554796087
NM_000093.4(COL5A1):c.2096C>T (p.Thr699Met) rs142313124
NM_000093.4(COL5A1):c.2155C>T (p.Pro719Ser) rs1564446104
NM_000093.4(COL5A1):c.2174A>G (p.Asn725Ser) rs142612655
NM_000093.4(COL5A1):c.2181C>T (p.Gly727=)
NM_000093.4(COL5A1):c.2187+4A>G
NM_000093.4(COL5A1):c.2222C>T (p.Pro741Leu) rs1422097890
NM_000093.4(COL5A1):c.2232+4G>C rs1060502257
NM_000093.4(COL5A1):c.2269G>A (p.Gly757Ser) rs1464394247
NM_000093.4(COL5A1):c.2285C>T (p.Pro762Leu) rs138259992
NM_000093.4(COL5A1):c.2312C>G (p.Pro771Arg) rs1554797269
NM_000093.4(COL5A1):c.2318A>T (p.Glu773Val)
NM_000093.4(COL5A1):c.2321A>C (p.Lys774Thr) rs1564449370
NM_000093.4(COL5A1):c.2331+4G>C
NM_000093.4(COL5A1):c.2331G>A (p.Gln777=)
NM_000093.4(COL5A1):c.2354C>T (p.Pro785Leu) rs760539229
NM_000093.4(COL5A1):c.2386-8C>A
NM_000093.4(COL5A1):c.2390C>T (p.Ala797Val)
NM_000093.4(COL5A1):c.2398A>G (p.Ile800Val) rs146870918
NM_000093.4(COL5A1):c.2415C>T (p.Gly805=) rs769239532
NM_000093.4(COL5A1):c.2425G>A (p.Glu809Lys) rs1032017865
NM_000093.4(COL5A1):c.2464A>G (p.Met822Val) rs1060502262
NM_000093.4(COL5A1):c.2484+6C>T rs576976549
NM_000093.4(COL5A1):c.2497C>T (p.Pro833Ser) rs370547479
NM_000093.4(COL5A1):c.2518G>C (p.Asp840His) rs1564457054
NM_000093.4(COL5A1):c.2543G>A (p.Arg848His) rs767925708
NM_000093.4(COL5A1):c.2555A>G (p.Asn852Ser) rs148146480
NM_000093.4(COL5A1):c.2555A>T (p.Asn852Ile) rs148146480
NM_000093.4(COL5A1):c.256C>T (p.Pro86Ser) rs1277995091
NM_000093.4(COL5A1):c.266A>G (p.Gln89Arg) rs1554780187
NM_000093.4(COL5A1):c.2708C>T (p.Pro903Leu) rs780406577
NM_000093.4(COL5A1):c.2723C>T (p.Pro908Leu) rs772211736
NM_000093.4(COL5A1):c.2744C>T (p.Thr915Met) rs771090557
NM_000093.4(COL5A1):c.2750C>T (p.Pro917Leu) rs375600865
NM_000093.4(COL5A1):c.278C>G (p.Ala93Gly)
NM_000093.4(COL5A1):c.2809G>A (p.Gly937Arg)
NM_000093.4(COL5A1):c.2812G>C (p.Gly938Arg) rs751950836
NM_000093.4(COL5A1):c.2818G>A (p.Gly940Ser) rs1131691874
NM_000093.4(COL5A1):c.2851A>C (p.Asn951His)
NM_000093.4(COL5A1):c.28C>T (p.Arg10Cys) rs1457110544
NM_000093.4(COL5A1):c.2902C>G (p.Pro968Ala) rs1564466152
NM_000093.4(COL5A1):c.2905C>G (p.Pro969Ala)
NM_000093.4(COL5A1):c.292G>A (p.Glu98Lys) rs369126350
NM_000093.4(COL5A1):c.2931C>A (p.His977Gln) rs1564466171
NM_000093.4(COL5A1):c.2946C>T (p.Gly982=) rs1060502253
NM_000093.4(COL5A1):c.2947G>A (p.Glu983Lys) rs146348246
NM_000093.4(COL5A1):c.295G>T (p.Asp99Tyr) rs774095835
NM_000093.4(COL5A1):c.2971G>A (p.Gly991Ser) rs777368013
NM_000093.4(COL5A1):c.2983C>A (p.Pro995Thr) rs187022757
NM_000093.4(COL5A1):c.2983C>G (p.Pro995Ala) rs187022757
NM_000093.4(COL5A1):c.2988C>A (p.Pro996=)
NM_000093.4(COL5A1):c.2991C>T (p.Gly997=) rs766208976
NM_000093.4(COL5A1):c.3023C>T (p.Thr1008Met) rs199735010
NM_000093.4(COL5A1):c.3037G>A (p.Glu1013Lys) rs1060502249
NM_000093.4(COL5A1):c.3059C>T (p.Pro1020Leu) rs1001786208
NM_000093.4(COL5A1):c.3082C>T (p.Leu1028Phe) rs762810181
NM_000093.4(COL5A1):c.3086C>T (p.Pro1029Leu)
NM_000093.4(COL5A1):c.3110C>T (p.Thr1037Met) rs150487609
NM_000093.4(COL5A1):c.3130G>A (p.Ala1044Thr)
NM_000093.4(COL5A1):c.3170G>A (p.Gly1057Asp) rs1554803568
NM_000093.4(COL5A1):c.3185G>A (p.Arg1062Gln) rs771807198
NM_000093.4(COL5A1):c.3203T>G (p.Val1068Gly) rs372109796
NM_000093.4(COL5A1):c.3233G>A (p.Gly1078Glu) rs1554803631
NM_000093.4(COL5A1):c.3235C>T (p.Pro1079Ser)
NM_000093.4(COL5A1):c.3236C>T (p.Pro1079Leu) rs863223447
NM_000093.4(COL5A1):c.3247C>T (p.Pro1083Ser) rs370321707
NM_000093.4(COL5A1):c.3257C>T (p.Ala1086Val) rs774849517
NM_000093.4(COL5A1):c.3263C>G (p.Ser1088Cys) rs1383949759
NM_000093.4(COL5A1):c.3292G>A (p.Ala1098Thr) rs772521985
NM_000093.4(COL5A1):c.3299C>T (p.Pro1100Leu)
NM_000093.4(COL5A1):c.3303C>A (p.Ile1101=) rs760754491
NM_000093.4(COL5A1):c.3369C>T (p.Gly1123=) rs546229885
NM_000093.4(COL5A1):c.3398G>A (p.Arg1133Gln) rs759580799
NM_000093.4(COL5A1):c.3421G>C (p.Gly1141Arg) rs1269224473
NM_000093.4(COL5A1):c.3428C>T (p.Pro1143Leu) rs540131206
NM_000093.4(COL5A1):c.343T>A (p.Phe115Ile) rs1564396163
NM_000093.4(COL5A1):c.3491C>T (p.Pro1164Leu)
NM_000093.4(COL5A1):c.34G>A (p.Ala12Thr) rs1160540030
NM_000093.4(COL5A1):c.3551C>T (p.Pro1184Leu) rs749093832
NM_000093.4(COL5A1):c.3562A>G (p.Ile1188Val)
NM_000093.4(COL5A1):c.3584_3585delinsAT (p.Gly1195Asp) rs1060502247
NM_000093.4(COL5A1):c.3592G>A (p.Gly1198Ser) rs372499629
NM_000093.4(COL5A1):c.35C>A (p.Ala12Glu)
NM_000093.4(COL5A1):c.3656G>C (p.Gly1219Ala) rs1564475073
NM_000093.4(COL5A1):c.3667C>T (p.Pro1223Ser)
NM_000093.4(COL5A1):c.367C>G (p.Gln123Glu) rs142114921
NM_000093.4(COL5A1):c.3733G>A (p.Val1245Met) rs1435045393
NM_000093.4(COL5A1):c.3770G>A (p.Arg1257Gln) rs141768094
NM_000093.4(COL5A1):c.37C>T (p.Leu13Phe) rs762625123
NM_000093.4(COL5A1):c.3812C>G (p.Pro1271Arg) rs771146636
NM_000093.4(COL5A1):c.3812C>T (p.Pro1271Leu) rs771146636
NM_000093.4(COL5A1):c.3864C>T (p.Gly1288=)
NM_000093.4(COL5A1):c.3868G>A (p.Ala1290Thr) rs863223451
NM_000093.4(COL5A1):c.3887C>T (p.Pro1296Leu)
NM_000093.4(COL5A1):c.3905C>T (p.Pro1302Leu) rs201920777
NM_000093.4(COL5A1):c.3911C>T (p.Pro1304Leu) rs1554805618
NM_000093.4(COL5A1):c.3916G>A (p.Gly1306Arg)
NM_000093.4(COL5A1):c.3939G>T (p.Glu1313Asp) rs886063676
NM_000093.4(COL5A1):c.3988G>A (p.Gly1330Arg) rs1060502254
NM_000093.4(COL5A1):c.3991G>A (p.Asp1331Asn) rs545973022
NM_000093.4(COL5A1):c.4039C>T (p.Pro1347Ser) rs769470285
NM_000093.4(COL5A1):c.4043G>C (p.Gly1348Ala) rs1060502252
NM_000093.4(COL5A1):c.4050C>A (p.Pro1350=) rs773853291
NM_000093.4(COL5A1):c.4067C>T (p.Ala1356Val) rs766796504
NM_000093.4(COL5A1):c.406C>T (p.Pro136Ser) rs777625241
NM_000093.4(COL5A1):c.409G>A (p.Val137Ile) rs145757313
NM_000093.4(COL5A1):c.4121C>T (p.Thr1374Met) rs151115748
NM_000093.4(COL5A1):c.4144G>A (p.Glu1382Lys) rs1554806121
NM_000093.4(COL5A1):c.4162C>T (p.Pro1388Ser) rs61737942
NM_000093.4(COL5A1):c.4172A>G (p.Lys1391Arg) rs201801000
NM_000093.4(COL5A1):c.4175G>A (p.Arg1392Lys) rs863223479
NM_000093.4(COL5A1):c.4188C>T (p.Gly1396=)
NM_000093.4(COL5A1):c.4192G>A (p.Ala1398Thr) rs759464073
NM_000093.4(COL5A1):c.4192G>T (p.Ala1398Ser) rs759464073
NM_000093.4(COL5A1):c.4212G>C (p.Gln1404His) rs1554806295
NM_000093.4(COL5A1):c.4238C>A (p.Ala1413Asp) rs1564480902
NM_000093.4(COL5A1):c.4275C>G (p.Ile1425Met) rs767372665
NM_000093.4(COL5A1):c.4276G>A (p.Gly1426Ser) rs374868484
NM_000093.4(COL5A1):c.4297A>G (p.Lys1433Glu) rs1554806543
NM_000093.4(COL5A1):c.4307C>T (p.Pro1436Leu) rs752334702
NM_000093.4(COL5A1):c.431C>T (p.Thr144Met) rs561761305
NM_000093.4(COL5A1):c.4333C>T (p.Pro1445Ser)
NM_000093.4(COL5A1):c.4339-3C>G
NM_000093.4(COL5A1):c.4351C>A (p.Leu1451Ile) rs369740453
NM_000093.4(COL5A1):c.4358G>T (p.Gly1453Val)
NM_000093.4(COL5A1):c.4423G>C (p.Asp1475His) rs1554806674
NM_000093.4(COL5A1):c.4433C>T (p.Pro1478Leu) rs377062537
NM_000093.4(COL5A1):c.4447G>T (p.Gly1483Cys) rs1554806963
NM_000093.4(COL5A1):c.446C>T (p.Pro149Leu) rs369971694
NM_000093.4(COL5A1):c.4487A>G (p.Glu1496Gly)
NM_000093.4(COL5A1):c.4495G>A (p.Glu1499Lys) rs1060502261
NM_000093.4(COL5A1):c.4507C>T (p.Arg1503Cys) rs200987038
NM_000093.4(COL5A1):c.4508G>A (p.Arg1503His) rs373653069
NM_000093.4(COL5A1):c.4522C>A (p.Pro1508Thr) rs148687561
NM_000093.4(COL5A1):c.4573G>A (p.Gly1525Ser) rs1564484053
NM_000093.4(COL5A1):c.4607C>T (p.Pro1536Leu) rs761837954
NM_000093.4(COL5A1):c.460C>T (p.Leu154Phe) rs1554781521
NM_000093.4(COL5A1):c.4612C>A (p.Pro1538Thr) rs1554807720
NM_000093.4(COL5A1):c.4643C>T (p.Ser1548Leu) rs147398633
NM_000093.4(COL5A1):c.4652C>T (p.Thr1551Ile) rs863223460
NM_000093.4(COL5A1):c.4654G>A (p.Gly1552Ser) rs1554807811
NM_000093.4(COL5A1):c.4676A>C (p.His1559Pro)
NM_000093.4(COL5A1):c.4693C>T (p.Pro1565Ser)
NM_000093.4(COL5A1):c.4698G>A (p.Pro1566=) rs147904867
NM_000093.4(COL5A1):c.4706C>T (p.Pro1569Leu)
NM_000093.4(COL5A1):c.4717A>G (p.Ile1573Val) rs373448943
NM_000093.4(COL5A1):c.4739C>T (p.Ala1580Val)
NM_000093.4(COL5A1):c.4753C>T (p.Arg1585Trp) rs546865410
NM_000093.4(COL5A1):c.4754G>A (p.Arg1585Gln) rs531431738
NM_000093.4(COL5A1):c.4765G>A (p.Ala1589Thr) rs377138881
NM_000093.4(COL5A1):c.4804G>A (p.Val1602Met) rs201771867
NM_000093.4(COL5A1):c.4805_4813dup (p.Val1602_Tyr1604dup) rs752240390
NM_000093.4(COL5A1):c.484G>C (p.Asp162His) rs1564396342
NM_000093.4(COL5A1):c.4879C>T (p.Arg1627Trp) rs558906147
NM_000093.4(COL5A1):c.4880G>A (p.Arg1627Gln)
NM_000093.4(COL5A1):c.4887G>A (p.Leu1629=)
NM_000093.4(COL5A1):c.4892C>T (p.Thr1631Met) rs764446683
NM_000093.4(COL5A1):c.4897C>G (p.Gln1633Glu)
NM_000093.4(COL5A1):c.4909C>T (p.Arg1637Cys) rs753433375
NM_000093.4(COL5A1):c.491+3A>C rs1554781526
NM_000093.4(COL5A1):c.4911C>T (p.Arg1637=) rs778483767
NM_000093.4(COL5A1):c.4940C>T (p.Pro1647Leu)
NM_000093.4(COL5A1):c.4943A>G (p.Asp1648Gly) rs746071518
NM_000093.4(COL5A1):c.4954+4A>G rs1564487377
NM_000093.4(COL5A1):c.4954+6G>C rs1031138847
NM_000093.4(COL5A1):c.4990A>G (p.Arg1664Gly)
NM_000093.4(COL5A1):c.5012G>A (p.Cys1671Tyr) rs1554808357
NM_000093.4(COL5A1):c.502A>G (p.Ile168Val) rs112858705
NM_000093.4(COL5A1):c.5033C>G (p.Ser1678Trp)
NM_000093.4(COL5A1):c.5039G>T (p.Cys1680Phe)
NM_000093.4(COL5A1):c.5060C>A (p.Ser1687Tyr) rs150083065
NM_000093.4(COL5A1):c.5097C>G (p.Asn1699Lys) rs138396959
NM_000093.4(COL5A1):c.514G>T (p.Val172Phe) rs150147262
NM_000093.4(COL5A1):c.5159G>T (p.Gly1720Val) rs1243519195
NM_000093.4(COL5A1):c.5162A>G (p.Asn1721Ser) rs1482037877
NM_000093.4(COL5A1):c.5182A>G (p.Met1728Val) rs138068984
NM_000093.4(COL5A1):c.5224G>A (p.Val1742Ile)
NM_000093.4(COL5A1):c.5234A>G (p.His1745Arg) rs370607849
NM_000093.4(COL5A1):c.526A>C (p.Asn176His) rs369396868
NM_000093.4(COL5A1):c.5293C>T (p.Arg1765Cys) rs199703883
NM_000093.4(COL5A1):c.52C>T (p.Pro18Ser) rs1060502260
NM_000093.4(COL5A1):c.5303G>A (p.Gly1768Asp)
NM_000093.4(COL5A1):c.5317del (p.Glu1773fs) rs1554726283
NM_000093.4(COL5A1):c.5321T>C (p.Met1774Thr) rs1554726285
NM_000093.4(COL5A1):c.5326T>C (p.Tyr1776His)
NM_000093.4(COL5A1):c.5336_5337delinsG (p.Asn1779fs)
NM_000093.4(COL5A1):c.5338C>T (p.Pro1780Ser) rs781230603
NM_000093.4(COL5A1):c.5339C>A (p.Pro1780His) rs746104317
NM_000093.4(COL5A1):c.5348G>A (p.Arg1783His) rs777045810
NM_000093.4(COL5A1):c.5389A>C (p.Lys1797Gln) rs560106611
NM_000093.4(COL5A1):c.5420T>A (p.Val1807Glu)
NM_000093.4(COL5A1):c.5432C>T (p.Pro1811Leu) rs1554727362
NM_000093.4(COL5A1):c.5437G>A (p.Val1813Met) rs755914340
NM_000093.4(COL5A1):c.5461G>A (p.Gly1821Ser) rs773709219
NM_000093.4(COL5A1):c.548G>A (p.Cys183Tyr) rs1060502251
NM_000093.4(COL5A1):c.5495G>A (p.Gly1832Glu) rs1554727410
NM_000093.4(COL5A1):c.5497C>T (p.Pro1833Ser) rs370789226
NM_000093.4(COL5A1):c.5498dup (p.Ala1834fs) rs1564191704
NM_000093.4(COL5A1):c.5504G>C (p.Cys1835Ser) rs1060502246
NM_000093.4(COL5A1):c.583G>A (p.Asp195Asn) rs781248560
NM_000093.4(COL5A1):c.598G>A (p.Asp200Asn) rs142890619
NM_000093.4(COL5A1):c.610A>G (p.Ile204Val) rs1060502245
NM_000093.4(COL5A1):c.668A>G (p.Gln223Arg) rs1554787531
NM_000093.4(COL5A1):c.67_69CTG[5] (p.Leu28del) rs773994971
NM_000093.4(COL5A1):c.67_69CTG[7] (p.Leu28dup) rs773994971
NM_000093.4(COL5A1):c.680T>C (p.Val227Ala) rs376144196
NM_000093.4(COL5A1):c.683C>T (p.Ser228Leu) rs770737485
NM_000093.4(COL5A1):c.684G>A (p.Ser228=) rs139705205
NM_000093.4(COL5A1):c.692G>A (p.Arg231Gln)
NM_000093.4(COL5A1):c.710G>A (p.Cys237Tyr)
NM_000093.4(COL5A1):c.727G>A (p.Asp243Asn) rs758431206
NM_000093.4(COL5A1):c.754C>T (p.Pro252Ser) rs369781295
NM_000093.4(COL5A1):c.787-9C>G rs751472921
NM_000093.4(COL5A1):c.803G>T (p.Gly268Val) rs145552797
NM_000093.4(COL5A1):c.805G>A (p.Glu269Lys) rs761079177
NM_000093.4(COL5A1):c.860G>A (p.Gly287Glu)
NM_000093.4(COL5A1):c.868C>T (p.Pro290Ser)
NM_000093.4(COL5A1):c.922G>A (p.Glu308Lys) rs770173348
NM_000093.4(COL5A1):c.92C>A (p.Pro31Gln)
NM_000093.4(COL5A1):c.935C>T (p.Pro312Leu)
NM_000093.4(COL5A1):c.944C>T (p.Thr315Met) rs145093766
NM_000093.4(COL5A1):c.983G>A (p.Gly328Glu) rs576742644
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.1063C>T (p.Arg355Trp) rs775007891
NM_000302.4(PLOD1):c.1095C>T (p.Gly365=)
NM_000302.4(PLOD1):c.1097C>T (p.Ala366Val) rs377080927
NM_000302.4(PLOD1):c.109G>A (p.Glu37Lys) rs369263247
NM_000302.4(PLOD1):c.1108C>T (p.Arg370Trp)
NM_000302.4(PLOD1):c.1117C>T (p.Arg373Cys)
NM_000302.4(PLOD1):c.1145A>C (p.Asp382Ala) rs998178222
NM_000302.4(PLOD1):c.115G>A (p.Glu39Lys)
NM_000302.4(PLOD1):c.1172A>G (p.Asn391Ser) rs763409574
NM_000302.4(PLOD1):c.1180C>T (p.Arg394Trp)
NM_000302.4(PLOD1):c.1202+3G>A rs370358836
NM_000302.4(PLOD1):c.1203-3C>T rs376288573
NM_000302.4(PLOD1):c.1216C>G (p.Pro406Ala) rs760764359
NM_000302.4(PLOD1):c.1216C>T (p.Pro406Ser)
NM_000302.4(PLOD1):c.1246T>C (p.Ser416Pro)
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.1288C>T (p.Arg430Cys)
NM_000302.4(PLOD1):c.1334T>G (p.Val445Gly)
NM_000302.4(PLOD1):c.1349A>G (p.Tyr450Cys)
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.1470+5G>A rs1553136223
NM_000302.4(PLOD1):c.1482G>C (p.Met494Ile)
NM_000302.4(PLOD1):c.1511A>G (p.His504Arg) rs555034048
NM_000302.4(PLOD1):c.1543C>T (p.His515Tyr) rs746905101
NM_000302.4(PLOD1):c.1649C>T (p.Thr550Met)
NM_000302.4(PLOD1):c.1650G>A (p.Thr550=) rs201999965
NM_000302.4(PLOD1):c.1658C>T (p.Pro553Leu) rs754569828
NM_000302.4(PLOD1):c.1667A>G (p.Tyr556Cys) rs146360295
NM_000302.4(PLOD1):c.1678A>G (p.Ile560Val)
NM_000302.4(PLOD1):c.1689G>A (p.Glu563=) rs139230801
NM_000302.4(PLOD1):c.1706T>A (p.Leu569Gln) rs773547480
NM_000302.4(PLOD1):c.1763G>T (p.Arg588Leu) rs755346019
NM_000302.4(PLOD1):c.1785C>A (p.Asn595Lys)
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.1828C>T (p.Arg610Trp)
NM_000302.4(PLOD1):c.184G>A (p.Glu62Lys) rs146092290
NM_000302.4(PLOD1):c.1864C>T (p.Pro622Ser)
NM_000302.4(PLOD1):c.1871C>T (p.Thr624Met)
NM_000302.4(PLOD1):c.1892A>G (p.Tyr631Cys)
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.2041C>T (p.Arg681Trp)
NM_000302.4(PLOD1):c.2057A>G (p.Asn686Ser) rs747393648
NM_000302.4(PLOD1):c.2068C>T (p.Arg690Ter)
NM_000302.4(PLOD1):c.2072C>T (p.Ala691Val) rs777096767
NM_000302.4(PLOD1):c.2095A>G (p.Met699Val)
NM_000302.4(PLOD1):c.2099A>G (p.His700Arg)
NM_000302.4(PLOD1):c.2162C>T (p.Ala721Val) rs149161535
NM_000302.4(PLOD1):c.2173G>A (p.Val725Ile)
NM_000302.4(PLOD1):c.232G>T (p.Val78Phe) rs1306060482
NM_000302.4(PLOD1):c.241C>G (p.Leu81Val)
NM_000302.4(PLOD1):c.265G>T (p.Ala89Ser) rs886039207
NM_000302.4(PLOD1):c.302+5G>A
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.314T>A (p.Leu105Gln) rs1553133902
NM_000302.4(PLOD1):c.315_317del (p.Phe106del)
NM_000302.4(PLOD1):c.376T>G (p.Phe126Val)
NM_000302.4(PLOD1):c.407G>A (p.Arg136His)
NM_000302.4(PLOD1):c.481G>A (p.Ala161Thr) rs1553134244
NM_000302.4(PLOD1):c.508G>A (p.Glu170Lys)
NM_000302.4(PLOD1):c.526A>G (p.Ser176Gly)
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.567_572del (p.Asp189_Pro190del) rs775053632
NM_000302.4(PLOD1):c.569C>T (p.Pro190Leu)
NM_000302.4(PLOD1):c.570G>A (p.Pro190=) rs776173072
NM_000302.4(PLOD1):c.579G>A (p.Arg193=) rs1553134266
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.674A>G (p.His225Arg)
NM_000302.4(PLOD1):c.702C>G (p.Asp234Glu)
NM_000302.4(PLOD1):c.712G>T (p.Val238Phe) rs777914756
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.805G>A (p.Val269Met) rs145447578
NM_000302.4(PLOD1):c.814G>A (p.Glu272Lys)
NM_000302.4(PLOD1):c.824G>A (p.Arg275His) rs184999645
NM_000302.4(PLOD1):c.839T>C (p.Ile280Thr)
NM_000302.4(PLOD1):c.842G>A (p.Gly281Glu) rs1056398577
NM_000302.4(PLOD1):c.860C>T (p.Thr287Met)
NM_000302.4(PLOD1):c.861G>A (p.Thr287=) rs747570972
NM_000302.4(PLOD1):c.871G>A (p.Gly291Ser) rs776772692
NM_000302.4(PLOD1):c.874G>A (p.Val292Met)
NM_000302.4(PLOD1):c.893C>T (p.Thr298Met) rs879902079
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.947A>C (p.Lys316Thr)
NM_000302.4(PLOD1):c.949C>A (p.His317Asn) rs1287367993
NM_000302.4(PLOD1):c.965T>A (p.Ile322Asn) rs1553135172
NM_000302.4(PLOD1):c.975C>T (p.His325=) rs761576315
NM_000302.4(PLOD1):c.976-6C>A rs200825919
NM_000393.4(COL5A2):c.961-3delT rs542134887
NM_000393.5(COL5A2):c.1010C>T (p.Pro337Leu) rs766349082
NM_000393.5(COL5A2):c.1021C>T (p.Pro341Ser) rs538602187
NM_000393.5(COL5A2):c.1067G>A (p.Arg356Gln) rs761072017
NM_000393.5(COL5A2):c.1076A>G (p.His359Arg)
NM_000393.5(COL5A2):c.1139C>T (p.Pro380Leu)
NM_000393.5(COL5A2):c.1175C>T (p.Thr392Ile) rs1553515880
NM_000393.5(COL5A2):c.118G>A (p.Ala40Thr) rs1559108874
NM_000393.5(COL5A2):c.119C>T (p.Ala40Val) rs758092388
NM_000393.5(COL5A2):c.1228C>T (p.Pro410Ser) rs1042644306
NM_000393.5(COL5A2):c.1292A>G (p.Lys431Arg) rs144602736
NM_000393.5(COL5A2):c.1302G>A (p.Thr434=)
NM_000393.5(COL5A2):c.1324C>T (p.Pro442Ser) rs1008978987
NM_000393.5(COL5A2):c.1352C>T (p.Ser451Phe) rs778385867
NM_000393.5(COL5A2):c.1391G>A (p.Arg464Gln) rs1553515798
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.1455+6G>A rs113512079
NM_000393.5(COL5A2):c.1463A>G (p.His488Arg)
NM_000393.5(COL5A2):c.1563+5A>G rs777118100
NM_000393.5(COL5A2):c.1570C>T (p.Pro524Ser)
NM_000393.5(COL5A2):c.1579C>T (p.Arg527Cys) rs863223490
NM_000393.5(COL5A2):c.158T>A (p.Ile53Asn)
NM_000393.5(COL5A2):c.1613C>G (p.Pro538Arg)
NM_000393.5(COL5A2):c.1621G>T (p.Ala541Ser) rs768348357
NM_000393.5(COL5A2):c.1633C>T (p.Arg545Trp) rs145258293
NM_000393.5(COL5A2):c.1636G>A (p.Gly546Ser)
NM_000393.5(COL5A2):c.1658C>A (p.Pro553His) rs149203102
NM_000393.5(COL5A2):c.1685G>A (p.Arg562His) rs1199481029
NM_000393.5(COL5A2):c.1693G>C (p.Glu565Gln) rs730880066
NM_000393.5(COL5A2):c.1697C>T (p.Pro566Leu) rs1051400743
NM_000393.5(COL5A2):c.16G>T (p.Ala6Ser) rs372910621
NM_000393.5(COL5A2):c.1714C>T (p.Arg572Trp) rs768322852
NM_000393.5(COL5A2):c.1715G>A (p.Arg572Gln)
NM_000393.5(COL5A2):c.1738G>A (p.Val580Ile) rs771004951
NM_000393.5(COL5A2):c.173C>A (p.Pro58His) rs766925699
NM_000393.5(COL5A2):c.1792C>T (p.Arg598Cys) rs1060501906
NM_000393.5(COL5A2):c.1814T>C (p.Ile605Thr) rs746339285
NM_000393.5(COL5A2):c.1973C>T (p.Pro658Leu) rs746458284
NM_000393.5(COL5A2):c.2008C>A (p.Pro670Thr) rs904166744
NM_000393.5(COL5A2):c.2092C>A (p.Pro698Thr)
NM_000393.5(COL5A2):c.2101C>A (p.Pro701Thr) rs765785677
NM_000393.5(COL5A2):c.2111T>C (p.Val704Ala) rs542643688
NM_000393.5(COL5A2):c.2117C>T (p.Pro706Leu) rs146175905
NM_000393.5(COL5A2):c.2130A>G (p.Arg710=)
NM_000393.5(COL5A2):c.2168G>A (p.Gly723Glu) rs1553514920
NM_000393.5(COL5A2):c.2210delinsGTCC (p.His737delinsArgPro) rs1559083259
NM_000393.5(COL5A2):c.2228A>C (p.Lys743Thr) rs372812220
NM_000393.5(COL5A2):c.2263A>C (p.Thr755Pro) rs34395097
NM_000393.5(COL5A2):c.2291C>T (p.Pro764Leu)
NM_000393.5(COL5A2):c.2344A>G (p.Ile782Val) rs1270917752
NM_000393.5(COL5A2):c.238C>G (p.Leu80Val) rs746454126
NM_000393.5(COL5A2):c.2408T>C (p.Leu803Ser) rs149737825
NM_000393.5(COL5A2):c.2506C>G (p.Arg836Gly) rs367718811
NM_000393.5(COL5A2):c.250G>A (p.Asp84Asn) rs745528957
NM_000393.5(COL5A2):c.2562C>A (p.Asp854Glu) rs148430780
NM_000393.5(COL5A2):c.2597C>T (p.Pro866Leu)
NM_000393.5(COL5A2):c.260C>T (p.Thr87Met)
NM_000393.5(COL5A2):c.2627G>A (p.Gly876Glu) rs886039694
NM_000393.5(COL5A2):c.263C>A (p.Pro88His) rs149877855
NM_000393.5(COL5A2):c.2641G>A (p.Ala881Thr)
NM_000393.5(COL5A2):c.2641G>T (p.Ala881Ser) rs760858324
NM_000393.5(COL5A2):c.2648C>A (p.Ser883Tyr) rs773515722
NM_000393.5(COL5A2):c.2741C>T (p.Ala914Val) rs201486858
NM_000393.5(COL5A2):c.2782C>T (p.Pro928Ser)
NM_000393.5(COL5A2):c.2834G>A (p.Gly945Glu) rs868695034
NM_000393.5(COL5A2):c.2841T>A (p.Pro947=) rs372780282
NM_000393.5(COL5A2):c.284T>A (p.Val95Asp) rs759604513
NM_000393.5(COL5A2):c.2855G>A (p.Arg952His) rs139264859
NM_000393.5(COL5A2):c.2863G>A (p.Asp955Asn) rs754751410
NM_000393.5(COL5A2):c.2872C>T (p.Pro958Ser)
NM_000393.5(COL5A2):c.2881C>T (p.Pro961Ser)
NM_000393.5(COL5A2):c.2882C>T (p.Pro961Leu) rs778835151
NM_000393.5(COL5A2):c.2929C>T (p.Pro977Ser)
NM_000393.5(COL5A2):c.2950G>C (p.Gly984Arg)
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.2981T>C (p.Ile994Thr)
NM_000393.5(COL5A2):c.3001C>T (p.Arg1001Cys) rs863223507
NM_000393.5(COL5A2):c.3017T>A (p.Met1006Lys) rs930378570
NM_000393.5(COL5A2):c.3022G>A (p.Gly1008Ser) rs909634945
NM_000393.5(COL5A2):c.3038C>T (p.Ala1013Val) rs372220538
NM_000393.5(COL5A2):c.3169A>G (p.Thr1057Ala)
NM_000393.5(COL5A2):c.3170C>A (p.Thr1057Asn) rs201186702
NM_000393.5(COL5A2):c.3178C>T (p.Arg1060Trp) rs374549843
NM_000393.5(COL5A2):c.3196G>A (p.Glu1066Lys)
NM_000393.5(COL5A2):c.31C>A (p.Leu11Ile)
NM_000393.5(COL5A2):c.3208C>T (p.Arg1070Cys) rs754429372
NM_000393.5(COL5A2):c.3209G>A (p.Arg1070His) rs373288848
NM_000393.5(COL5A2):c.3248G>A (p.Gly1083Asp) rs1559076883
NM_000393.5(COL5A2):c.3268C>T (p.Pro1090Ser) rs761543775
NM_000393.5(COL5A2):c.3283G>A (p.Gly1095Arg)
NM_000393.5(COL5A2):c.3308C>T (p.Pro1103Leu) rs150401168
NM_000393.5(COL5A2):c.3311G>T (p.Gly1104Val) rs1167178682
NM_000393.5(COL5A2):c.3325A>G (p.Ile1109Val)
NM_000393.5(COL5A2):c.3343G>C (p.Ala1115Pro) rs748601646
NM_000393.5(COL5A2):c.3373G>A (p.Gly1125Arg) rs151187317
NM_000393.5(COL5A2):c.3385G>A (p.Asp1129Asn) rs199802059
NM_000393.5(COL5A2):c.3391G>A (p.Gly1131Ser) rs747946828
NM_000393.5(COL5A2):c.3488A>G (p.Gln1163Arg) rs758412337
NM_000393.5(COL5A2):c.34C>T (p.Leu12Phe) rs768807471
NM_000393.5(COL5A2):c.3533C>A (p.Pro1178Gln) rs1060501905
NM_000393.5(COL5A2):c.3542T>G (p.Val1181Gly)
NM_000393.5(COL5A2):c.3608G>A (p.Gly1203Asp)
NM_000393.5(COL5A2):c.3611G>A (p.Ser1204Asn) rs1060501907
NM_000393.5(COL5A2):c.3614T>C (p.Val1205Ala) rs148110552
NM_000393.5(COL5A2):c.3638C>T (p.Pro1213Leu)
NM_000393.5(COL5A2):c.3646G>A (p.Glu1216Lys) rs755429175
NM_000393.5(COL5A2):c.3658C>T (p.Pro1220Ser) rs770554435
NM_000393.5(COL5A2):c.3668C>T (p.Pro1223Leu) rs753383064
NM_000393.5(COL5A2):c.3676C>T (p.Pro1226Ser) rs199621926
NM_000393.5(COL5A2):c.3733C>T (p.Pro1245Ser) rs376971803
NM_000393.5(COL5A2):c.376G>A (p.Gly126Ser) rs779153546
NM_000393.5(COL5A2):c.3791C>T (p.Thr1264Met)
NM_000393.5(COL5A2):c.3794A>G (p.Asp1265Gly) rs200325397
NM_000393.5(COL5A2):c.379A>C (p.Ile127Leu)
NM_000393.5(COL5A2):c.379A>G (p.Ile127Val) rs1064795177
NM_000393.5(COL5A2):c.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.403-3T>C rs369733690
NM_000393.5(COL5A2):c.4037G>A (p.Arg1346His) rs143163673
NM_000393.5(COL5A2):c.4067A>G (p.Asp1356Gly) rs140952583
NM_000393.5(COL5A2):c.4085A>G (p.Tyr1362Cys)
NM_000393.5(COL5A2):c.4153A>G (p.Thr1385Ala) rs1169417653
NM_000393.5(COL5A2):c.4163C>T (p.Thr1388Ile) rs771415085
NM_000393.5(COL5A2):c.4217A>G (p.Lys1406Arg)
NM_000393.5(COL5A2):c.4307A>G (p.Glu1436Gly) rs371259794
NM_000393.5(COL5A2):c.4325G>A (p.Arg1442Gln) rs761126767
NM_000393.5(COL5A2):c.4357C>T (p.Arg1453Trp)
NM_000393.5(COL5A2):c.4358G>A (p.Arg1453Gln) rs149064715
NM_000393.5(COL5A2):c.4362T>A (p.Asn1454Lys) rs372170366
NM_000393.5(COL5A2):c.4450G>A (p.Gly1484Ser) rs147420365
NM_000393.5(COL5A2):c.4451G>A (p.Gly1484Asp) rs761481937
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.553G>A (p.Asp185Asn)
NM_000393.5(COL5A2):c.5T>C (p.Met2Thr) rs762874073
NM_000393.5(COL5A2):c.64G>A (p.Val22Ile)
NM_000393.5(COL5A2):c.799-6A>G rs111586240
NM_000393.5(COL5A2):c.859C>T (p.Arg287Cys)
NM_000393.5(COL5A2):c.905G>C (p.Arg302Pro)
NM_000393.5(COL5A2):c.955T>C (p.Ser319Pro) rs1060501908
NM_000393.5(COL5A2):c.985A>G (p.Met329Val) rs140785678
NM_001110556.2(FLNA):c.1096G>A (p.Ala366Thr)
NM_001110556.2(FLNA):c.1138G>A (p.Asp380Asn)
NM_001110556.2(FLNA):c.1223C>T (p.Thr408Met) rs781827791
NM_001110556.2(FLNA):c.1249G>A (p.Glu417Lys)
NM_001110556.2(FLNA):c.125A>G (p.Lys42Arg) rs1569551930
NM_001110556.2(FLNA):c.1309C>T (p.Arg437Trp)
NM_001110556.2(FLNA):c.1319G>C (p.Ser440Thr)
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.1406C>T (p.Pro469Leu) rs782434140
NM_001110556.2(FLNA):c.1424G>A (p.Gly475Asp)
NM_001110556.2(FLNA):c.1438C>T (p.Pro480Ser)
NM_001110556.2(FLNA):c.1451G>A (p.Arg484Gln) rs782371735
NM_001110556.2(FLNA):c.1454C>T (p.Ala485Val)
NM_001110556.2(FLNA):c.1479G>C (p.Lys493Asn) rs1557179001
NM_001110556.2(FLNA):c.1486C>T (p.Arg496Trp)
NM_001110556.2(FLNA):c.1528G>A (p.Ala510Thr)
NM_001110556.2(FLNA):c.1542G>C (p.Glu514Asp) rs782765195
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.1613A>G (p.Tyr538Cys) rs1557178932
NM_001110556.2(FLNA):c.1621G>A (p.Glu541Lys) rs743546
NM_001110556.2(FLNA):c.168C>G (p.His56Gln) rs1569551928
NM_001110556.2(FLNA):c.1693C>T (p.Pro565Ser)
NM_001110556.2(FLNA):c.1796T>A (p.Val599Glu)
NM_001110556.2(FLNA):c.1799A>G (p.Glu600Gly)
NM_001110556.2(FLNA):c.1807G>T (p.Gly603Trp) rs200116438
NM_001110556.2(FLNA):c.1823C>T (p.Thr608Met)
NM_001110556.2(FLNA):c.1850C>T (p.Ser617Leu) rs782193139
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.1958A>G (p.Asp653Gly) rs1249111377
NM_001110556.2(FLNA):c.1964G>A (p.Arg655His) rs782563602
NM_001110556.2(FLNA):c.196A>T (p.Asn66Tyr) rs1569551926
NM_001110556.2(FLNA):c.1991G>A (p.Arg664His)
NM_001110556.2(FLNA):c.1997C>G (p.Ala666Gly)
NM_001110556.2(FLNA):c.1997C>T (p.Ala666Val) rs374295965
NM_001110556.2(FLNA):c.19C>T (p.Arg7Trp) rs941318584
NM_001110556.2(FLNA):c.2033G>A (p.Arg678His)
NM_001110556.2(FLNA):c.2183A>G (p.Asn728Ser)
NM_001110556.2(FLNA):c.2204A>G (p.Tyr735Cys)
NM_001110556.2(FLNA):c.2233G>T (p.Ala745Ser)
NM_001110556.2(FLNA):c.2254_2268delinsCCCTTCAGGGTG (p.Val752_Asn756delinsProPheArgVal) rs863223631
NM_001110556.2(FLNA):c.2281-3C>A
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.2410G>A (p.Val804Ile) rs374130804
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.2584A>G (p.Ile862Val) rs1557178202
NM_001110556.2(FLNA):c.2614G>A (p.Ala872Thr)
NM_001110556.2(FLNA):c.2744C>A (p.Thr915Asn) rs782045915
NM_001110556.2(FLNA):c.2764G>C (p.Asp922His)
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.2826+4G>A rs1037180469
NM_001110556.2(FLNA):c.2831C>T (p.Pro944Leu)
NM_001110556.2(FLNA):c.2839G>A (p.Val947Ile)
NM_001110556.2(FLNA):c.2965C>A (p.Gln989Lys) rs1557178045
NM_001110556.2(FLNA):c.29A>G (p.Gln10Arg)
NM_001110556.2(FLNA):c.3036G>A (p.Ser1012=) rs373908435
NM_001110556.2(FLNA):c.3107G>A (p.Arg1036His)
NM_001110556.2(FLNA):c.3112G>A (p.Glu1038Lys) rs1187268269
NM_001110556.2(FLNA):c.3260G>A (p.Arg1087His) rs369668866
NM_001110556.2(FLNA):c.3286G>A (p.Gly1096Ser) rs782149159
NM_001110556.2(FLNA):c.3337G>A (p.Glu1113Lys)
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.3455C>T (p.Ala1152Val) rs1557177751
NM_001110556.2(FLNA):c.34G>T (p.Ala12Ser)
NM_001110556.2(FLNA):c.3514C>G (p.Arg1172Gly)
NM_001110556.2(FLNA):c.3523G>A (p.Ala1175Thr) rs370202395
NM_001110556.2(FLNA):c.3602C>T (p.Ala1201Val)
NM_001110556.2(FLNA):c.3611C>T (p.Pro1204Leu) rs376726422
NM_001110556.2(FLNA):c.3647C>T (p.Thr1216Met)
NM_001110556.2(FLNA):c.3670C>T (p.Leu1224Phe) rs1557177690
NM_001110556.2(FLNA):c.3708C>T (p.Gly1236=) rs200363918
NM_001110556.2(FLNA):c.3769G>A (p.Gly1257Ser) rs781896277
NM_001110556.2(FLNA):c.3861G>T (p.Gln1287His) rs1557177627
NM_001110556.2(FLNA):c.3929A>G (p.Gln1310Arg)
NM_001110556.2(FLNA):c.3940G>A (p.Asp1314Asn) rs1557177584
NM_001110556.2(FLNA):c.3979+5G>A rs1569551642
NM_001110556.2(FLNA):c.3985C>T (p.His1329Tyr) rs782746289
NM_001110556.2(FLNA):c.4018G>A (p.Val1340Met)
NM_001110556.2(FLNA):c.4070G>A (p.Arg1357Gln)
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.410T>A (p.Ile137Asn) rs1569551877
NM_001110556.2(FLNA):c.4174G>A (p.Val1392Ile)
NM_001110556.2(FLNA):c.4343C>T (p.Ala1448Val)
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.4452G>C (p.Gln1484His) rs1569551606
NM_001110556.2(FLNA):c.4457A>T (p.Lys1486Ile)
NM_001110556.2(FLNA):c.4465G>C (p.Gly1489Arg)
NM_001110556.2(FLNA):c.4475-4C>T rs199652065
NM_001110556.2(FLNA):c.4499T>C (p.Val1500Ala)
NM_001110556.2(FLNA):c.4517C>T (p.Thr1506Ile) rs797045579
NM_001110556.2(FLNA):c.4544G>A (p.Arg1515Gln)
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.4696G>A (p.Val1566Met) rs1181500076
NM_001110556.2(FLNA):c.4721_4732del (p.Asp1574_Glu1577del) rs1557177229
NM_001110556.2(FLNA):c.4755+5G>A rs199803218
NM_001110556.2(FLNA):c.4772C>T (p.Pro1591Leu)
NM_001110556.2(FLNA):c.4825G>A (p.Val1609Met)
NM_001110556.2(FLNA):c.4834G>C (p.Val1612Leu)
NM_001110556.2(FLNA):c.487G>A (p.Ala163Thr) rs1569551875
NM_001110556.2(FLNA):c.4903C>T (p.Arg1635Cys)
NM_001110556.2(FLNA):c.5009C>T (p.Thr1670Met)
NM_001110556.2(FLNA):c.5033C>T (p.Ala1678Val) rs1382817700
NM_001110556.2(FLNA):c.5059A>G (p.Thr1687Ala)
NM_001110556.2(FLNA):c.5075_5092dup (p.Asp1692_Asp1697dup) rs781960834
NM_001110556.2(FLNA):c.5098G>A (p.Val1700Met)
NM_001110556.2(FLNA):c.5127C>A (p.Asp1709Glu) rs1557176627
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.5482G>A (p.Val1828Met)
NM_001110556.2(FLNA):c.5591A>G (p.Asn1864Ser) rs782095418
NM_001110556.2(FLNA):c.5710G>A (p.Gly1904Ser) rs782549964
NM_001110556.2(FLNA):c.5786C>T (p.Pro1929Leu)
NM_001110556.2(FLNA):c.5875C>T (p.Arg1959Cys)
NM_001110556.2(FLNA):c.5911A>T (p.Ile1971Phe) rs190712778
NM_001110556.2(FLNA):c.5951C>T (p.Thr1984Met) rs782639698
NM_001110556.2(FLNA):c.5978G>C (p.Arg1993Pro)
NM_001110556.2(FLNA):c.6047C>T (p.Thr2016Met) rs781946802
NM_001110556.2(FLNA):c.6107C>T (p.Pro2036Leu) rs1557176131
NM_001110556.2(FLNA):c.619C>T (p.Pro207Ser)
NM_001110556.2(FLNA):c.61G>T (p.Val21Phe)
NM_001110556.2(FLNA):c.6217C>T (p.Arg2073Cys) rs782069230
NM_001110556.2(FLNA):c.6220G>A (p.Asp2074Asn) rs371611462
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.6307A>G (p.Arg2103Gly) rs370277156
NM_001110556.2(FLNA):c.6310G>A (p.Val2104Ile)
NM_001110556.2(FLNA):c.6316T>C (p.Tyr2106His)
NM_001110556.2(FLNA):c.6320G>C (p.Cys2107Ser) rs1557176052
NM_001110556.2(FLNA):c.6376C>T (p.Pro2126Ser) rs782400832
NM_001110556.2(FLNA):c.6394G>A (p.Val2132Met) rs201396725
NM_001110556.2(FLNA):c.6415C>T (p.Arg2139Trp) rs782761341
NM_001110556.2(FLNA):c.6481G>A (p.Asp2161Asn)
NM_001110556.2(FLNA):c.6502+8C>G
NM_001110556.2(FLNA):c.6565G>A (p.Glu2189Lys) rs1405780478
NM_001110556.2(FLNA):c.6568A>C (p.Ile2190Leu)
NM_001110556.2(FLNA):c.65A>G (p.Asp22Gly) rs782598729
NM_001110556.2(FLNA):c.6719A>G (p.Lys2240Arg) rs797045581
NM_001110556.2(FLNA):c.6725G>A (p.Arg2242Gln) rs781984274
NM_001110556.2(FLNA):c.6728C>G (p.Ala2243Gly) rs953454766
NM_001110556.2(FLNA):c.6776T>C (p.Phe2259Ser) rs1276647740
NM_001110556.2(FLNA):c.6863G>A (p.Arg2288His) rs782275601
NM_001110556.2(FLNA):c.6871G>A (p.Gly2291Ser) rs797044739
NM_001110556.2(FLNA):c.6875C>T (p.Ser2292Phe) rs1557175878
NM_001110556.2(FLNA):c.6916G>A (p.Glu2306Lys)
NM_001110556.2(FLNA):c.6973G>A (p.Val2325Met) rs1557175818
NM_001110556.2(FLNA):c.6983C>T (p.Pro2328Leu)
NM_001110556.2(FLNA):c.7043A>G (p.Asn2348Ser) rs1557175657
NM_001110556.2(FLNA):c.7055C>T (p.Ser2352Phe) rs1557175646
NM_001110556.2(FLNA):c.7059T>G (p.Phe2353Leu) rs864622713
NM_001110556.2(FLNA):c.7066A>C (p.Ser2356Arg) rs781823700
NM_001110556.2(FLNA):c.70C>T (p.Arg24Trp)
NM_001110556.2(FLNA):c.714C>G (p.Ile238Met) rs1557179587
NM_001110556.2(FLNA):c.7157A>G (p.Asp2386Gly)
NM_001110556.2(FLNA):c.7167T>G (p.Ala2389=) rs782541746
NM_001110556.2(FLNA):c.7172G>A (p.Arg2391His) rs727503930
NM_001110556.2(FLNA):c.7174T>C (p.Phe2392Leu)
NM_001110556.2(FLNA):c.7188G>C (p.Glu2396Asp)
NM_001110556.2(FLNA):c.7195G>A (p.Val2399Ile) rs878854463
NM_001110556.2(FLNA):c.7202T>C (p.Leu2401Pro)
NM_001110556.2(FLNA):c.7205T>C (p.Ile2402Thr) rs202152952
NM_001110556.2(FLNA):c.7210G>A (p.Val2404Ile)
NM_001110556.2(FLNA):c.7259T>C (p.Val2420Ala) rs782289803
NM_001110556.2(FLNA):c.7381G>T (p.Ala2461Ser)
NM_001110556.2(FLNA):c.7388C>T (p.Ser2463Leu) rs1460574102
NM_001110556.2(FLNA):c.7389G>A (p.Ser2463=) rs373103712
NM_001110556.2(FLNA):c.7394C>T (p.Thr2465Ile) rs878854464
NM_001110556.2(FLNA):c.7463C>A (p.Thr2488Asn) rs909387820
NM_001110556.2(FLNA):c.7544A>G (p.Lys2515Arg) rs782442409
NM_001110556.2(FLNA):c.7555C>T (p.Pro2519Ser) rs782383611
NM_001110556.2(FLNA):c.7628G>A (p.Cys2543Tyr) rs201762017
NM_001110556.2(FLNA):c.7655C>T (p.Pro2552Leu) rs1334045176
NM_001110556.2(FLNA):c.7660C>A (p.Pro2554Thr) rs1060500720
NM_001110556.2(FLNA):c.7738G>A (p.Val2580Ile) rs377518545
NM_001110556.2(FLNA):c.7779_7780insTTCGGGG (p.Val2594fs) rs1557175195
NM_001110556.2(FLNA):c.7784A>C (p.His2595Pro)
NM_001110556.2(FLNA):c.77C>T (p.Ala26Val)
NM_001110556.2(FLNA):c.7802G>A (p.Cys2601Tyr) rs1060500721
NM_001110556.2(FLNA):c.7817_7820del (p.Val2606fs) rs1557175175
NM_001110556.2(FLNA):c.7846G>A (p.Val2616Met)
NM_001110556.2(FLNA):c.7900G>C (p.Asp2634His) rs782341270
NM_001110556.2(FLNA):c.7919G>T (p.Ser2640Ile) rs1557175110
NM_001110556.2(FLNA):c.7927C>T (p.Arg2643Cys) rs200836471
NM_001110556.2(FLNA):c.7932_7934del (p.Val2646del) rs1060500715
NM_001110556.2(FLNA):c.7A>G (p.Ser3Gly)
NM_001110556.2(FLNA):c.826C>T (p.Arg276Trp) rs1172505050
NM_001110556.2(FLNA):c.84G>C (p.Met28Ile)
NM_001110556.2(FLNA):c.853C>T (p.Arg285Cys) rs1557179536
NM_001110556.2(FLNA):c.901C>T (p.Arg301Trp) rs192609440
NM_001110556.2(FLNA):c.902G>T (p.Arg301Leu) rs371600068
NM_001110556.2(FLNA):c.959T>G (p.Val320Gly)
NM_001128225.3(SLC39A13):c.1000G>A (p.Val334Met)
NM_001128225.3(SLC39A13):c.118C>T (p.Arg40Trp)
NM_001128225.3(SLC39A13):c.139C>T (p.Arg47Cys)
NM_001128225.3(SLC39A13):c.185G>C (p.Gly62Ala) rs1565660438
NM_001128225.3(SLC39A13):c.265A>G (p.Ile89Val)
NM_001128225.3(SLC39A13):c.302-3T>C
NM_001128225.3(SLC39A13):c.35C>T (p.Ala12Val)
NM_001128225.3(SLC39A13):c.635G>A (p.Arg212Gln) rs200490683
NM_001128225.3(SLC39A13):c.640A>G (p.Ile214Val) rs750123189
NM_001128225.3(SLC39A13):c.736A>G (p.Ile246Val) rs767784704
NM_001128225.3(SLC39A13):c.767T>C (p.Leu256Pro) rs924156969
NM_001128225.3(SLC39A13):c.786+6C>T rs779162662
NM_001128225.3(SLC39A13):c.991A>G (p.Ile331Val)
NM_001278074.1(COL5A1):c.3583-6dup rs773032514
NM_007255.3(B4GALT7):c.218_219inv (p.Arg73His)
NM_007255.3(B4GALT7):c.38G>A (p.Trp13Ter) rs200503833
NM_007255.3(B4GALT7):c.662T>C (p.Phe221Ser)
NM_013352.4(DSE):c.1225G>A (p.Glu409Lys)
NM_013352.4(DSE):c.2005A>G (p.Ile669Val) rs145999978
NM_013352.4(DSE):c.355A>C (p.Asn119His)
NM_014244.5(ADAMTS2):c.102C>A (p.Pro34=)
NM_014244.5(ADAMTS2):c.1030C>T (p.Arg344Cys)
NM_014244.5(ADAMTS2):c.1069G>A (p.Asp357Asn) rs763890617
NM_014244.5(ADAMTS2):c.115C>T (p.Leu39Phe) rs1064796637
NM_014244.5(ADAMTS2):c.1163C>T (p.Pro388Leu)
NM_014244.5(ADAMTS2):c.1208C>T (p.Ala403Val) rs756455382
NM_014244.5(ADAMTS2):c.1264G>A (p.Gly422Ser)
NM_014244.5(ADAMTS2):c.1278C>T (p.Gly426=) rs746088783
NM_014244.5(ADAMTS2):c.1383-3C>A rs1554126056
NM_014244.5(ADAMTS2):c.138A>G (p.Pro46=)
NM_014244.5(ADAMTS2):c.1427C>T (p.Pro476Leu) rs762123346
NM_014244.5(ADAMTS2):c.143G>A (p.Gly48Glu)
NM_014244.5(ADAMTS2):c.165G>C (p.Glu55Asp)
NM_014244.5(ADAMTS2):c.167G>A (p.Arg56His)
NM_014244.5(ADAMTS2):c.1683C>A (p.Asp561Glu)
NM_014244.5(ADAMTS2):c.169A>G (p.Ile57Val)
NM_014244.5(ADAMTS2):c.1723C>T (p.Arg575Cys) rs1212597027
NM_014244.5(ADAMTS2):c.1769A>C (p.Asn590Thr)
NM_014244.5(ADAMTS2):c.1776C>A (p.His592Gln) rs1561773783
NM_014244.5(ADAMTS2):c.1883G>A (p.Arg628His) rs140621260
NM_014244.5(ADAMTS2):c.1903G>A (p.Glu635Lys) rs371099308
NM_014244.5(ADAMTS2):c.1909G>A (p.Gly637Ser)
NM_014244.5(ADAMTS2):c.1911C>T (p.Gly637=)
NM_014244.5(ADAMTS2):c.1912G>A (p.Asp638Asn)
NM_014244.5(ADAMTS2):c.200A>G (p.Gln67Arg) rs745588970
NM_014244.5(ADAMTS2):c.2080T>C (p.Cys694Arg)
NM_014244.5(ADAMTS2):c.2110G>A (p.Gly704Ser) rs149708395
NM_014244.5(ADAMTS2):c.2230A>G (p.Ile744Val) rs201241062
NM_014244.5(ADAMTS2):c.2243C>T (p.Ala748Val) rs780473688
NM_014244.5(ADAMTS2):c.2261A>G (p.Gln754Arg)
NM_014244.5(ADAMTS2):c.2272G>A (p.Ala758Thr) rs146222244
NM_014244.5(ADAMTS2):c.2293G>A (p.Val765Ile) rs777314559
NM_014244.5(ADAMTS2):c.2398G>A (p.Glu800Lys)
NM_014244.5(ADAMTS2):c.2414C>T (p.Thr805Met) rs370350117
NM_014244.5(ADAMTS2):c.2479C>T (p.Arg827Trp)
NM_014244.5(ADAMTS2):c.2533G>C (p.Asp845His)
NM_014244.5(ADAMTS2):c.260G>T (p.Arg87Leu)
NM_014244.5(ADAMTS2):c.2615G>T (p.Gly872Val)
NM_014244.5(ADAMTS2):c.2648G>A (p.Arg883Gln) rs772028555
NM_014244.5(ADAMTS2):c.2720C>T (p.Ala907Val)
NM_014244.5(ADAMTS2):c.2780G>A (p.Ser927Asn) rs1193602528
NM_014244.5(ADAMTS2):c.2818G>A (p.Val940Met) rs367796431
NM_014244.5(ADAMTS2):c.2834C>T (p.Pro945Leu) rs200309353
NM_014244.5(ADAMTS2):c.2842_2844del (p.Asp948del) rs765659887
NM_014244.5(ADAMTS2):c.2980G>A (p.Gly994Ser) rs142429109
NM_014244.5(ADAMTS2):c.303C>A (p.Asn101Lys)
NM_014244.5(ADAMTS2):c.3064A>T (p.Thr1022Ser) rs1434954526
NM_014244.5(ADAMTS2):c.3116G>A (p.Ser1039Asn)
NM_014244.5(ADAMTS2):c.3121G>C (p.Val1041Leu)
NM_014244.5(ADAMTS2):c.3232C>T (p.Arg1078Cys) rs755578308
NM_014244.5(ADAMTS2):c.3234C>G (p.Arg1078=)
NM_014244.5(ADAMTS2):c.3343G>A (p.Asp1115Asn) rs200022037
NM_014244.5(ADAMTS2):c.3352G>A (p.Val1118Met)
NM_014244.5(ADAMTS2):c.3449A>G (p.Asn1150Ser) rs200982805
NM_014244.5(ADAMTS2):c.3503A>G (p.His1168Arg)
NM_014244.5(ADAMTS2):c.3544C>T (p.Arg1182Ter) rs367553801
NM_014244.5(ADAMTS2):c.3545G>A (p.Arg1182Gln) rs140845527
NM_014244.5(ADAMTS2):c.3551C>T (p.Pro1184Leu) rs150989902
NM_014244.5(ADAMTS2):c.3606G>A (p.Met1202Ile) rs1278681689
NM_014244.5(ADAMTS2):c.3608G>A (p.Arg1203Gln)
NM_014244.5(ADAMTS2):c.373C>T (p.Arg125Trp)
NM_014244.5(ADAMTS2):c.394G>A (p.Ala132Thr)
NM_014244.5(ADAMTS2):c.411G>A (p.Met137Ile)
NM_014244.5(ADAMTS2):c.423C>T (p.Gly141=) rs755099137
NM_014244.5(ADAMTS2):c.442G>A (p.Val148Met)
NM_014244.5(ADAMTS2):c.47_49TGC[11] (p.Leu21_Leu23dup) rs568040559
NM_014244.5(ADAMTS2):c.47_49TGC[6] (p.Leu22_Leu23del) rs568040559
NM_014244.5(ADAMTS2):c.47_49TGC[7] (p.Leu23del) rs568040559
NM_014244.5(ADAMTS2):c.51_52insTTG (p.Leu23dup)
NM_014244.5(ADAMTS2):c.547C>T (p.Arg183Trp) rs372225444
NM_014244.5(ADAMTS2):c.599C>T (p.Ala200Val)
NM_014244.5(ADAMTS2):c.641G>A (p.Arg214Gln) rs763524702
NM_014244.5(ADAMTS2):c.661C>G (p.Leu221Val) rs756807336
NM_014244.5(ADAMTS2):c.68T>C (p.Leu23Pro) rs565885690
NM_014244.5(ADAMTS2):c.699_707GGACAGCCT[3] (p.234_236DSL[3])
NM_014244.5(ADAMTS2):c.71_73CGC[2] (p.Pro26del)
NM_014244.5(ADAMTS2):c.71_73CGC[4] (p.Pro26dup) rs763392299
NM_014244.5(ADAMTS2):c.71_73CGC[5] (p.Pro25_Pro26dup)
NM_014244.5(ADAMTS2):c.724G>A (p.Ala242Thr) rs372103269
NM_014244.5(ADAMTS2):c.790G>A (p.Asp264Asn)
NM_014244.5(ADAMTS2):c.80_88dup (p.Leu27_Pro29dup) rs775509290
NM_014244.5(ADAMTS2):c.80_94del (p.22_26LLPPP[1])
NM_014244.5(ADAMTS2):c.847G>A (p.Gly283Arg) rs376856341
NM_014244.5(ADAMTS2):c.84_86GCC[5] (p.Pro34del) rs770212030
NM_014244.5(ADAMTS2):c.84_86GCC[8] (p.Pro33_Pro34dup) rs770212030
NM_014244.5(ADAMTS2):c.859G>A (p.Val287Ile) rs148737005
NM_014244.5(ADAMTS2):c.8C>T (p.Pro3Leu) rs1407363425
NM_014244.5(ADAMTS2):c.935A>G (p.Asn312Ser) rs528367185
NM_014244.5(ADAMTS2):c.94C>T (p.Pro32Ser) rs547548078
NM_014244.5(ADAMTS2):c.991G>A (p.Glu331Lys) rs17667857
NM_017946.3(FKBP14):c.116A>G (p.His39Arg) rs778007431
NM_017946.3(FKBP14):c.119G>A (p.Arg40His) rs1554371032
NM_017946.3(FKBP14):c.182C>T (p.Ser61Phe)
NM_017946.3(FKBP14):c.233C>T (p.Thr78Ile)
NM_017946.3(FKBP14):c.357T>G (p.Ile119Met) rs202182643
NM_017946.3(FKBP14):c.463_464CT[2] (p.Leu155_Ser156insTer) rs753775062
NM_017946.3(FKBP14):c.50T>C (p.Leu17Ser) rs1554371125
NM_017946.3(FKBP14):c.511C>T (p.His171Tyr)
NM_017946.3(FKBP14):c.512A>C (p.His171Pro) rs147665999
NM_017946.3(FKBP14):c.580G>A (p.Asp194Asn) rs1439447377
NM_017946.3(FKBP14):c.595A>G (p.Ile199Val)
NM_080605.4(B3GALT6):c.17G>A (p.Arg6Gln) rs1131691530
NM_080605.4(B3GALT6):c.236C>G (p.Thr79Arg) rs1409554936
NM_080605.4(B3GALT6):c.341C>A (p.Ala114Glu)
NM_080605.4(B3GALT6):c.35C>G (p.Ala12Gly) rs900539403
NM_080605.4(B3GALT6):c.388G>A (p.Glu130Lys)
NM_080605.4(B3GALT6):c.446del (p.Phe149fs) rs1553151257
NM_080605.4(B3GALT6):c.655G>A (p.Val219Met) rs1557526653
NM_130468.3(CHST14):c.1081C>G (p.Leu361Val) rs1566969372
NM_130468.3(CHST14):c.130A>G (p.Met44Val)
NM_130468.3(CHST14):c.148A>T (p.Ile50Phe) rs1046833753
NM_130468.3(CHST14):c.158C>A (p.Ser53Tyr)
NM_130468.3(CHST14):c.250C>A (p.Arg84Ser)
NM_130468.3(CHST14):c.275G>T (p.Gly92Val) rs754720949
NM_130468.3(CHST14):c.468G>C (p.Lys156Asn) rs1555410748
NM_130468.3(CHST14):c.548A>G (p.Asp183Gly)
NM_130468.3(CHST14):c.77C>T (p.Pro26Leu)
NM_130468.3(CHST14):c.869C>T (p.Ala290Val)
Single allele

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