ClinVar Miner

List of variants studied for Weill-Marchesani syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 898
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000138.5(FBN1):c.*730G>T rs13598 0.89602
NM_030957.4(ADAMTS10):c.401= (p.Ser134=) rs7255721 0.79500
NM_139057.4(ADAMTS17):c.1053G>A (p.Lys351=) rs4369638 0.75672
NM_000138.5(FBN1):c.*2158G>A rs11070641 0.75090
NM_139057.4(ADAMTS17):c.3281A>G (p.Asn1094Ser) rs2573652 0.70543
NM_139057.4(ADAMTS17):c.*510C>T rs2573650 0.69021
NM_139057.4(ADAMTS17):c.1017C>T (p.Ala339=) rs4965613 0.68304
NM_000138.5(FBN1):c.*1575T>G rs4775760 0.68134
NM_139057.4(ADAMTS17):c.*46C>G rs2581340 0.65342
NM_139057.4(ADAMTS17):c.*113A>G rs2581341 0.64262
NM_139057.4(ADAMTS17):c.*316T>C rs2581345 0.64086
NM_139057.4(ADAMTS17):c.*1083A>G rs2581362 0.64072
NM_139057.4(ADAMTS17):c.*1078G>A rs2727196 0.64049
NM_139057.4(ADAMTS17):c.*399_*412dup rs71151926 0.64020
NM_139057.4(ADAMTS17):c.*544G>A rs2581348 0.64018
NM_139057.4(ADAMTS17):c.*1289T>G rs2581365 0.63990
NM_139057.4(ADAMTS17):c.*1243C>T rs2581363 0.63825
NM_000138.5(FBN1):c.*314C>T rs1042078 0.63415
NM_139057.4(ADAMTS17):c.*885A>G rs2727198 0.62345
NM_139057.4(ADAMTS17):c.*1449G>A rs2573625 0.61872
NM_139057.4(ADAMTS17):c.*1490C>T rs2727195 0.61407
NM_139057.4(ADAMTS17):c.*190G>A rs2727199 0.58955
NM_139057.4(ADAMTS17):c.*900T>C rs2581359 0.58766
NM_139057.4(ADAMTS17):c.*189G>C rs2581343 0.57417
NM_139057.4(ADAMTS17):c.*2528T>C rs8037666 0.46516
NM_139057.4(ADAMTS17):c.756C>T (p.Ala252=) rs7496640 0.40719
NM_139057.4(ADAMTS17):c.*82G>A rs3825894 0.39172
NM_139057.4(ADAMTS17):c.647C>T (p.Ser216Leu) rs7496668 0.39054
NM_139057.4(ADAMTS17):c.*2560T>C rs10468183 0.37771
NM_000428.3(LTBP2):c.2406T>C (p.Thr802=) rs699374 0.35704
NM_000428.3(LTBP2):c.*824C>T rs7569 0.34968
NM_139057.4(ADAMTS17):c.2591+6A>G rs8028251 0.30715
NM_139057.4(ADAMTS17):c.789+8C>T rs7496614 0.30495
NM_000428.3(LTBP2):c.*1818C>T rs1052939 0.26277
NM_139057.4(ADAMTS17):c.2138-12C>T rs28529328 0.25319
NM_000138.5(FBN1):c.1875T>C (p.Asn625=) rs25458 0.25074
NM_139057.4(ADAMTS17):c.*1779T>C rs12440706 0.24902
NM_030957.4(ADAMTS10):c.2283T>C (p.Pro761=) rs4476282 0.23173
NM_139057.4(ADAMTS17):c.2112C>T (p.Gly704=) rs4965583 0.18423
NM_000138.5(FBN1):c.3464-5G>A rs11853943 0.16287
NM_139057.4(ADAMTS17):c.1445T>C (p.Met482Thr) rs28567966 0.15651
NM_139057.4(ADAMTS17):c.1962C>T (p.Asp654=) rs61752832 0.08618
NM_139057.4(ADAMTS17):c.*2283A>G rs8025962 0.08276
NM_139057.4(ADAMTS17):c.*2701G>C rs13329612 0.07318
NM_030957.4(ADAMTS10):c.*428A>G rs116024095 0.07160
NM_000138.5(FBN1):c.156G>T (p.Ala52=) rs25398 0.06859
NM_000428.3(LTBP2):c.-232G>A rs61980926 0.06690
NM_139057.4(ADAMTS17):c.*2541A>G rs8041971 0.06591
NM_000428.3(LTBP2):c.1287G>A (p.Leu429=) rs61738025 0.06415
NM_000428.3(LTBP2):c.956C>A (p.Pro319Gln) rs2304707 0.06364
NM_139057.4(ADAMTS17):c.*486G>A rs117381111 0.06056
NM_000138.4(FBN1):c.-388C>T rs3825792 0.06008
NM_000428.3(LTBP2):c.*1873C>G rs77847288 0.04063
NM_139057.4(ADAMTS17):c.*2007G>A rs8041901 0.04026
NM_139057.4(ADAMTS17):c.*2183G>A rs148789222 0.03651
NM_000428.3(LTBP2):c.2788+13C>T rs78258030 0.03459
NM_030957.4(ADAMTS10):c.3102G>A (p.Thr1034=) rs10405956 0.03322
NM_030957.4(ADAMTS10):c.2584G>T (p.Ala862Ser) rs10418929 0.03247
NM_000428.3(LTBP2):c.*1957A>G rs73296215 0.03184
NM_000138.5(FBN1):c.*2040T>C rs73390272 0.03120
NM_000138.5(FBN1):c.*1959G>A rs12050562 0.03119
NM_139057.4(ADAMTS17):c.*439G>A rs140255903 0.03019
NM_030957.4(ADAMTS10):c.1900+11G>C rs78421590 0.02958
NM_030957.4(ADAMTS10):c.185G>A (p.Arg62Gln) rs62621197 0.02952
NM_030957.4(ADAMTS10):c.2423T>G (p.Leu808Arg) rs10420313 0.02947
NM_000138.5(FBN1):c.6855T>C (p.Asp2285=) rs363836 0.02755
NM_139057.4(ADAMTS17):c.*700G>A rs60022871 0.02686
NM_000428.3(LTBP2):c.2715C>T (p.Arg905=) rs7145480 0.02571
NM_000428.3(LTBP2):c.3093C>T (p.Ser1031=) rs45473602 0.02563
NM_030957.4(ADAMTS10):c.1588-7C>G rs11882422 0.02550
NM_139057.4(ADAMTS17):c.3219C>T (p.Tyr1073=) rs78682885 0.02540
NM_000138.5(FBN1):c.6888G>A (p.Gln2296=) rs363830 0.02418
NM_000138.5(FBN1):c.7819+8A>C rs363838 0.02324
NM_000428.3(LTBP2):c.4782G>A (p.Val1594=) rs2079631 0.02179
NM_000428.3(LTBP2):c.*2153T>C rs113879332 0.02134
NM_000138.5(FBN1):c.*57A>G rs363849 0.01992
NM_000428.3(LTBP2):c.4263G>A (p.Ala1421=) rs61738017 0.01972
NM_030957.4(ADAMTS10):c.-198A>G rs4530289 0.01712
NM_000428.3(LTBP2):c.1021+14G>A rs150408645 0.01681
NM_000428.3(LTBP2):c.3852C>T (p.Arg1284=) rs61736977 0.01652
NM_139057.4(ADAMTS17):c.*2324G>A rs8041395 0.01632
NM_000428.3(LTBP2):c.*2463G>T rs10141546 0.01598
NM_139057.4(ADAMTS17):c.*1729G>A rs58739070 0.01571
NM_139057.4(ADAMTS17):c.2472C>T (p.Ile824=) rs61752831 0.01571
NM_139057.4(ADAMTS17):c.*1774C>T rs74037056 0.01566
NM_000428.3(LTBP2):c.*2044G>A rs73296214 0.01534
NM_000428.3(LTBP2):c.3262G>A (p.Gly1088Ser) rs61505039 0.01509
NM_000138.5(FBN1):c.3082+6A>G rs79321504 0.01406
NM_000428.3(LTBP2):c.915G>A (p.Thr305=) rs60337900 0.01390
NM_139057.4(ADAMTS17):c.*2227G>A rs8041553 0.01381
NM_000138.5(FBN1):c.*1989C>T rs56194244 0.01330
NM_030957.4(ADAMTS10):c.*449G>C rs555471852 0.01330
NM_000138.5(FBN1):c.*1368A>G rs77212138 0.01328
NM_000138.5(FBN1):c.3442C>G (p.Pro1148Ala) rs140598 0.01315
NM_139057.4(ADAMTS17):c.*2079C>T rs75041141 0.01313
NM_139057.4(ADAMTS17):c.*2012C>T rs190592619 0.01261
NM_030957.4(ADAMTS10):c.1350G>T (p.Gly450=) rs75734496 0.01217
NM_139057.4(ADAMTS17):c.*1944G>A rs116429760 0.01213
NM_139057.4(ADAMTS17):c.*474C>T rs117821788 0.01156
NM_139057.4(ADAMTS17):c.*1706G>A rs117744474 0.01078
NM_139057.4(ADAMTS17):c.*2578G>A rs183671964 0.01077
NM_139057.4(ADAMTS17):c.*2722G>A rs116467016 0.01067
NM_000138.5(FBN1):c.3294C>T (p.Asp1098=) rs140587 0.01051
NM_139057.4(ADAMTS17):c.*989G>A rs57279107 0.01034
NM_000428.3(LTBP2):c.*2684A>G rs74384554 0.01012
NM_139057.4(ADAMTS17):c.1875C>T (p.Ala625=) rs34558152 0.00994
NM_030957.4(ADAMTS10):c.*171G>A rs79238375 0.00991
NM_139057.4(ADAMTS17):c.*743G>A rs74036641 0.00963
NM_139057.4(ADAMTS17):c.*1946G>T rs77749500 0.00956
NM_139057.4(ADAMTS17):c.*2352C>G rs138578029 0.00953
NM_139057.4(ADAMTS17):c.*116T>C rs143850369 0.00911
NM_000138.5(FBN1):c.3965-8T>C rs140637 0.00859
NM_139057.4(ADAMTS17):c.1651G>A (p.Ala551Thr) rs61754841 0.00851
NM_000428.3(LTBP2):c.1553G>T (p.Ser518Ile) rs137854857 0.00812
NM_000138.5(FBN1):c.*867G>T rs189749406 0.00798
NM_000428.3(LTBP2):c.4769T>C (p.Val1590Ala) rs139932140 0.00769
NM_030957.4(ADAMTS10):c.1803T>C (p.Cys601=) rs115093676 0.00762
NM_030957.4(ADAMTS10):c.*259G>A rs74498506 0.00739
NM_000138.5(FBN1):c.986T>C (p.Ile329Thr) rs12324002 0.00737
NM_139057.4(ADAMTS17):c.*1565G>C rs60803373 0.00732
NM_139057.4(ADAMTS17):c.*1992G>A rs114383018 0.00697
NM_030957.4(ADAMTS10):c.3193G>A (p.Gly1065Ser) rs80046653 0.00659
NM_000138.5(FBN1):c.*2153A>G rs116443051 0.00654
NM_000428.3(LTBP2):c.3333G>A (p.Thr1111=) rs61729544 0.00645
NM_139057.4(ADAMTS17):c.*420G>A rs556966662 0.00622
NM_030957.4(ADAMTS10):c.2403+4A>G rs187565033 0.00608
NM_000428.3(LTBP2):c.4089C>T (p.Asn1363=) rs141318496 0.00600
NM_139057.4(ADAMTS17):c.2700G>A (p.Thr900=) rs149373184 0.00592
NM_139057.4(ADAMTS17):c.*1234G>A rs543905312 0.00574
NM_139057.4(ADAMTS17):c.2591+14T>G rs75585294 0.00566
NM_139057.4(ADAMTS17):c.168C>T (p.Ala56=) rs886050982 0.00563
NM_000138.5(FBN1):c.5343G>A (p.Val1781=) rs140649 0.00561
NM_139057.4(ADAMTS17):c.*2453C>T rs141023547 0.00558
NM_000138.5(FBN1):c.2855-9C>T rs140590 0.00556
NM_139057.4(ADAMTS17):c.2171G>A (p.Ser724Asn) rs73474408 0.00554
NM_000138.5(FBN1):c.1029G>A (p.Gly343=) rs75655780 0.00545
NM_000428.3(LTBP2):c.378C>T (p.Pro126=) rs140842900 0.00528
NM_000428.3(LTBP2):c.*119C>T rs146119949 0.00526
NM_000138.5(FBN1):c.6393C>T (p.Cys2131=) rs61730051 0.00522
NM_139057.4(ADAMTS17):c.*880C>T rs187416809 0.00515
NM_030957.4(ADAMTS10):c.2865+11C>A rs367808475 0.00505
NM_000138.5(FBN1):c.*1580G>A rs17352989 0.00504
NM_000428.3(LTBP2):c.3891G>A (p.Pro1297=) rs61738013 0.00500
NM_000428.3(LTBP2):c.5187C>T (p.Phe1729=) rs149587738 0.00497
NM_000428.3(LTBP2):c.1399+10G>T rs143528294 0.00488
NM_000138.5(FBN1):c.*2674T>A rs142196699 0.00484
NM_030957.4(ADAMTS10):c.356G>A (p.Arg119Gln) rs3814291 0.00472
NM_000138.5(FBN1):c.*1084T>C rs3803350 0.00464
NM_030957.4(ADAMTS10):c.2157C>G (p.Ala719=) rs150468696 0.00463
NM_000138.5(FBN1):c.6594C>T (p.Pro2198=) rs111844882 0.00439
NM_000138.5(FBN1):c.1746C>T (p.Cys582=) rs112366266 0.00436
NM_000138.5(FBN1):c.3675G>A (p.Pro1225=) rs148147223 0.00436
NM_000138.5(FBN1):c.4905C>G (p.Thr1635=) rs113115949 0.00435
NM_030957.4(ADAMTS10):c.2016C>T (p.Cys672=) rs10414102 0.00419
NM_030957.4(ADAMTS10):c.217G>A (p.Glu73Lys) rs61750006 0.00419
NM_030957.4(ADAMTS10):c.204G>A (p.Thr68=) rs139761152 0.00397
NM_030957.4(ADAMTS10):c.*20G>A rs137928083 0.00385
NM_139057.4(ADAMTS17):c.2901C>T (p.Cys967=) rs140384823 0.00385
NM_139057.4(ADAMTS17):c.*1315C>T rs185582795 0.00381
NM_000138.5(FBN1):c.306C>T (p.Cys102=) rs25388 0.00372
NM_000428.3(LTBP2):c.3527-3C>A rs138194436 0.00364
NM_000138.5(FBN1):c.*1298C>G rs143446014 0.00360
NM_139057.4(ADAMTS17):c.*1448C>T rs188903672 0.00353
NM_139057.4(ADAMTS17):c.*1244C>G rs561561821 0.00329
NM_139057.4(ADAMTS17):c.441C>G (p.Ala147=) rs375900400 0.00324
NM_000428.3(LTBP2):c.*705C>T rs41307092 0.00320
NM_000138.5(FBN1):c.8283A>T (p.Thr2761=) rs146120912 0.00314
NM_139057.4(ADAMTS17):c.2499G>A (p.Lys833=) rs117133620 0.00307
NM_000428.3(LTBP2):c.4203G>A (p.Thr1401=) rs150977380 0.00305
NM_000428.3(LTBP2):c.450G>T (p.Arg150=) rs111342797 0.00290
NM_139057.4(ADAMTS17):c.*1546G>A rs149694490 0.00273
NM_000138.5(FBN1):c.7497A>G (p.Leu2499=) rs148516442 0.00268
NM_000138.5(FBN1):c.*2524A>G rs75372203 0.00254
NM_000428.3(LTBP2):c.208A>G (p.Ser70Gly) rs201787294 0.00237
NM_030957.4(ADAMTS10):c.*630C>T rs187201074 0.00235
NM_000428.3(LTBP2):c.3527-14T>C rs137854886 0.00233
NM_139057.4(ADAMTS17):c.*1685G>A rs573719295 0.00232
NM_139057.4(ADAMTS17):c.3128-12C>T rs182634994 0.00220
NM_000428.3(LTBP2):c.807C>T (p.Pro269=) rs61738024 0.00219
NM_030957.4(ADAMTS10):c.2154G>A (p.Gly718=) rs112185875 0.00213
NM_000428.3(LTBP2):c.*2363A>G rs190461277 0.00211
NM_139057.4(ADAMTS17):c.548A>G (p.Lys183Arg) rs146934810 0.00209
NM_000138.5(FBN1):c.*1245C>T rs181099623 0.00207
NM_030957.4(ADAMTS10):c.2261C>T (p.Ser754Phe) rs142353301 0.00203
NM_000428.3(LTBP2):c.3807G>A (p.Pro1269=) rs149953380 0.00193
NM_030957.4(ADAMTS10):c.2409G>C (p.Leu803=) rs61757472 0.00183
NM_139057.4(ADAMTS17):c.*1653C>G rs536677830 0.00181
NM_000428.3(LTBP2):c.2966C>G (p.Pro989Arg) rs76172717 0.00180
NM_000428.3(LTBP2):c.*1631C>T rs183119073 0.00178
NM_139057.4(ADAMTS17):c.*2511A>G rs145561763 0.00178
NM_139057.4(ADAMTS17):c.1767T>C (p.His589=) rs148939974 0.00176
NM_139057.4(ADAMTS17):c.*1766G>A rs139353567 0.00171
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475 0.00168
NM_000428.3(LTBP2):c.4467T>C (p.Cys1489=) rs80088294 0.00165
NM_000138.5(FBN1):c.2420-8T>C rs140582 0.00163
NM_139057.4(ADAMTS17):c.*2313T>C rs562633764 0.00161
NM_000138.5(FBN1):c.*1252A>G rs566419089 0.00150
NM_000428.3(LTBP2):c.4516G>A (p.Val1506Met) rs117800773 0.00149
NM_000138.5(FBN1):c.3069G>A (p.Lys1023=) rs199789628 0.00148
NM_000138.5(FBN1):c.8502T>C (p.Thr2834=) rs363847 0.00148
NM_000138.5(FBN1):c.-176A>T rs560004254 0.00145
NM_030957.4(ADAMTS10):c.1588-11C>T rs112970413 0.00142
NM_000428.3(LTBP2):c.2880C>T (p.Tyr960=) rs145851939 0.00139
NM_139057.4(ADAMTS17):c.2150C>T (p.Ser717Leu) rs143817747 0.00136
NM_000138.5(FBN1):c.*2398G>T rs377530465 0.00135
NM_000428.3(LTBP2):c.4286G>A (p.Arg1429Gln) rs116914994 0.00133
NM_030957.4(ADAMTS10):c.1719C>T (p.His573=) rs142320702 0.00133
NM_000138.5(FBN1):c.3463+3A>G rs80344206 0.00128
NM_000428.3(LTBP2):c.2853G>A (p.Ser951=) rs151176143 0.00128
NM_139057.4(ADAMTS17):c.*2220G>A rs559688841 0.00128
NM_139057.4(ADAMTS17):c.*2616G>A rs375704403 0.00124
NM_000428.3(LTBP2):c.4621G>A (p.Glu1541Lys) rs143456909 0.00121
NM_000138.5(FBN1):c.6681A>C (p.Ser2227=) rs363824 0.00109
NM_000428.3(LTBP2):c.-55G>A rs571506111 0.00109
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr) rs112287730 0.00107
NM_000138.5(FBN1):c.*2045G>A rs372254135 0.00106
NM_030957.4(ADAMTS10):c.1901-11G>A rs117220199 0.00106
NM_139057.4(ADAMTS17):c.*2479C>G rs540696412 0.00105
NM_000138.5(FBN1):c.*2024A>G rs558488257 0.00103
NM_139057.4(ADAMTS17):c.*742C>T rs555201429 0.00102
NM_139057.4(ADAMTS17):c.*960G>A rs180868548 0.00101
NM_139057.4(ADAMTS17):c.3044C>T (p.Ser1015Leu) rs143891379 0.00100
NM_000428.3(LTBP2):c.*2569G>A rs531824728 0.00094
NM_000428.3(LTBP2):c.*743G>A rs541978964 0.00092
NM_139057.4(ADAMTS17):c.1062G>A (p.Pro354=) rs145206425 0.00092
NM_000138.5(FBN1):c.783T>C (p.Asn261=) rs113721547 0.00091
NM_000138.5(FBN1):c.6987C>G (p.Asp2329Glu) rs363831 0.00089
NM_139057.4(ADAMTS17):c.*2279G>A rs529729790 0.00083
NM_139057.4(ADAMTS17):c.*671C>T rs76681073 0.00083
NM_000428.3(LTBP2):c.800C>T (p.Ser267Leu) rs149952751 0.00082
NM_139057.4(ADAMTS17):c.*1859C>T rs79741636 0.00080
NM_139057.4(ADAMTS17):c.214C>G (p.Pro72Ala) rs946108501 0.00077
NM_000138.5(FBN1):c.510C>T (p.Tyr170=) rs111671429 0.00076
NM_139057.4(ADAMTS17):c.2109G>A (p.Lys703=) rs139059770 0.00075
NM_000428.3(LTBP2):c.4911C>T (p.Asn1637=) rs12586758 0.00074
NM_000138.5(FBN1):c.*2091G>A rs575922741 0.00073
NM_000428.3(LTBP2):c.1796C>T (p.Pro599Leu) rs139018077 0.00072
NM_030957.4(ADAMTS10):c.716G>A (p.Arg239His) rs144166844 0.00071
NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp) rs61746008 0.00070
NM_000428.3(LTBP2):c.2771C>T (p.Ala924Val) rs142675579 0.00068
NM_030957.4(ADAMTS10):c.1743C>T (p.Ile581=) rs147694025 0.00067
NM_139057.4(ADAMTS17):c.-9C>T rs192272127 0.00067
NM_139057.4(ADAMTS17):c.*2747T>G rs183457005 0.00066
NM_000138.5(FBN1):c.*779C>T rs113200355 0.00064
NM_030957.4(ADAMTS10):c.1798-6C>T rs186791828 0.00064
NM_139057.4(ADAMTS17):c.*2790C>G rs529656441 0.00063
NM_000138.5(FBN1):c.*1341C>T rs766719764 0.00061
NM_030957.4(ADAMTS10):c.483G>A (p.Leu161=) rs150055188 0.00061
NM_139057.4(ADAMTS17):c.2799C>T (p.Cys933=) rs146651611 0.00061
NM_139057.4(ADAMTS17):c.228C>G (p.Pro76=) rs747636994 0.00059
NM_000428.3(LTBP2):c.3611C>T (p.Ala1204Val) rs45468895 0.00057
NM_000428.3(LTBP2):c.4545C>T (p.Pro1515=) rs144521879 0.00056
NM_000428.3(LTBP2):c.4821G>A (p.Thr1607=) rs139030976 0.00056
NM_139057.4(ADAMTS17):c.1288T>C (p.Ser430Pro) rs140930935 0.00056
NM_139057.4(ADAMTS17):c.1317C>A (p.Phe439Leu) rs147286623 0.00055
NM_000138.5(FBN1):c.3422C>T (p.Pro1141Leu) rs2228241 0.00054
NM_000428.3(LTBP2):c.2541A>G (p.Arg847=) rs140719298 0.00053
NM_000428.3(LTBP2):c.3047C>T (p.Thr1016Ile) rs149991486 0.00053
NM_030957.4(ADAMTS10):c.506G>A (p.Arg169Gln) rs151257275 0.00053
NM_000428.3(LTBP2):c.2326G>A (p.Val776Ile) rs145507464 0.00051
NM_000428.3(LTBP2):c.4964A>G (p.Tyr1655Cys) rs140493259 0.00051
NM_030957.4(ADAMTS10):c.1935G>A (p.Ala645=) rs200551849 0.00051
NM_139057.4(ADAMTS17):c.903G>A (p.Glu301=) rs150290429 0.00051
NM_000428.3(LTBP2):c.-93C>T rs769936231 0.00049
NM_000428.3(LTBP2):c.1686+3G>A rs190814774 0.00049
NM_000138.5(FBN1):c.5296+14G>A rs140650 0.00045
NM_000138.5(FBN1):c.7098C>T (p.Asp2366=) rs1005074 0.00044
NM_030957.4(ADAMTS10):c.1265C>T (p.Ala422Val) rs138620046 0.00044
NM_000138.5(FBN1):c.*43A>T rs144710695 0.00043
NM_000138.5(FBN1):c.3890A>G (p.Glu1297Gly) rs200342067 0.00043
NM_000428.3(LTBP2):c.*945T>C rs374130664 0.00042
NM_139057.4(ADAMTS17):c.542G>A (p.Arg181Lys) rs143689354 0.00039
NM_000138.5(FBN1):c.2895G>A (p.Glu965=) rs140591 0.00038
NM_000428.3(LTBP2):c.*229C>T rs141989493 0.00038
NM_139057.4(ADAMTS17):c.*692G>C rs187035332 0.00036
NM_139057.4(ADAMTS17):c.-22G>A rs760846321 0.00036
NM_139057.4(ADAMTS17):c.1398G>A (p.Pro466=) rs149252796 0.00036
NM_000138.5(FBN1):c.*2395G>A rs184719603 0.00035
NM_030957.4(ADAMTS10):c.303C>T (p.His101=) rs141630862 0.00035
NM_139057.4(ADAMTS17):c.*2690G>A rs566216613 0.00035
NM_139057.4(ADAMTS17):c.-69C>T rs534119279 0.00035
NM_139057.4(ADAMTS17):c.3028G>A (p.Glu1010Lys) rs367651794 0.00035
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala) rs201273753 0.00034
NM_000428.3(LTBP2):c.3921C>T (p.Cys1307=) rs113219139 0.00034
NM_139057.4(ADAMTS17):c.*1684C>T rs768887596 0.00034
NM_000428.3(LTBP2):c.1789+7G>A rs200259519 0.00033
NM_139057.4(ADAMTS17):c.1353G>A (p.Thr451=) rs143896591 0.00033
NM_000138.5(FBN1):c.5788+10C>A rs371560107 0.00032
NM_000428.3(LTBP2):c.1295C>T (p.Pro432Leu) rs137854861 0.00032
NM_000428.3(LTBP2):c.587A>G (p.Gln196Arg) rs374099324 0.00032
NM_000428.3(LTBP2):c.818C>T (p.Ser273Leu) rs143282840 0.00032
NM_030957.4(ADAMTS10):c.*146G>A rs910156203 0.00032
NM_000138.5(FBN1):c.8363C>T (p.Thr2788Met) rs143007898 0.00031
NM_139057.4(ADAMTS17):c.*2275A>G rs778643467 0.00031
NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile) rs183306990 0.00030
NM_000428.3(LTBP2):c.2789-9T>C rs368269193 0.00030
NM_000138.5(FBN1):c.*1720C>T rs557301792 0.00029
NM_000138.5(FBN1):c.2175T>C (p.Asn725=) rs140606 0.00029
NM_000428.3(LTBP2):c.*312T>C rs534807623 0.00029
NM_139057.4(ADAMTS17):c.*1763C>T rs550240800 0.00029
NM_139057.4(ADAMTS17):c.*425C>A rs574877864 0.00029
NM_139057.4(ADAMTS17):c.789+9G>A rs377670601 0.00029
NM_000138.5(FBN1):c.-136G>C rs879283668 0.00027
NM_000138.5(FBN1):c.*1949T>C rs534577080 0.00026
NM_000428.3(LTBP2):c.*167G>A rs574028105 0.00026
NM_139057.4(ADAMTS17):c.*2138C>T rs185690662 0.00026
NM_139057.4(ADAMTS17):c.*572T>C rs751250175 0.00026
NM_030957.4(ADAMTS10):c.*356G>A rs141523849 0.00025
NM_139057.4(ADAMTS17):c.*2422C>T rs528644699 0.00025
NM_139057.4(ADAMTS17):c.*519T>C rs886050966 0.00025
NM_139057.4(ADAMTS17):c.1682C>T (p.Thr561Met) rs140998386 0.00025
NM_139057.4(ADAMTS17):c.2590C>T (p.Arg864Trp) rs61757475 0.00025
NM_000138.5(FBN1):c.*1706C>A rs770825180 0.00024
NM_000138.5(FBN1):c.*2360C>G rs144404153 0.00024
NM_000138.5(FBN1):c.2678-12T>C rs200368037 0.00024
NM_000428.3(LTBP2):c.*1427A>G rs187052141 0.00024
NM_000428.3(LTBP2):c.2184C>T (p.His728=) rs140818407 0.00024
NM_139057.4(ADAMTS17):c.*4G>A rs200989311 0.00024
NM_000138.5(FBN1):c.6314-15G>A rs200841830 0.00023
NM_000428.3(LTBP2):c.2160C>T (p.Phe720=) rs74758312 0.00023
NM_139057.4(ADAMTS17):c.2637A>G (p.Lys879=) rs563938783 0.00023
NM_000138.5(FBN1):c.*1432A>T rs750902806 0.00022
NM_000428.3(LTBP2):c.5402G>A (p.Arg1801His) rs143010135 0.00022
NM_030957.4(ADAMTS10):c.-99-3C>T rs1047616409 0.00022
NM_139057.4(ADAMTS17):c.*419C>T rs1038576369 0.00022
NM_000138.5(FBN1):c.1027G>A (p.Gly343Arg) rs146726731 0.00021
NM_000428.3(LTBP2):c.*1005C>T rs541743695 0.00021
NM_000428.3(LTBP2):c.2657C>A (p.Thr886Lys) rs201591982 0.00021
NM_030957.4(ADAMTS10):c.2125G>A (p.Glu709Lys) rs550588972 0.00020
NM_139057.4(ADAMTS17):c.751G>A (p.Glu251Lys) rs200673902 0.00020
NM_000138.5(FBN1):c.79G>A (p.Ala27Thr) rs25397 0.00019
NM_000428.3(LTBP2):c.*1180C>T rs576929018 0.00019
NM_000428.3(LTBP2):c.568G>A (p.Val190Ile) rs558742251 0.00019
NM_139057.4(ADAMTS17):c.*2379C>T rs182417427 0.00019
NM_139057.4(ADAMTS17):c.*959C>T rs141144986 0.00019
NM_139057.4(ADAMTS17):c.*966G>T rs886050963 0.00019
NM_139057.4(ADAMTS17):c.2948C>T (p.Thr983Met) rs142633005 0.00019
NM_139057.4(ADAMTS17):c.388C>G (p.Arg130Gly) rs886050979 0.00019
NM_139057.4(ADAMTS17):c.944A>T (p.Tyr315Phe) rs141367283 0.00019
NM_000138.5(FBN1):c.3590-8T>C rs140600 0.00018
NM_000138.5(FBN1):c.902G>T (p.Gly301Val) rs142888621 0.00018
NM_030957.4(ADAMTS10):c.-60G>A rs573082154 0.00017
NM_139057.4(ADAMTS17):c.1887C>T (p.Asp629=) rs145594305 0.00017
NM_000138.5(FBN1):c.*1228T>C rs372333234 0.00016
NM_000428.3(LTBP2):c.*55G>A rs185374765 0.00016
NM_139057.4(ADAMTS17):c.*2598T>C rs754478048 0.00016
NM_139057.4(ADAMTS17):c.2693T>C (p.Val898Ala) rs202099735 0.00016
NM_139057.4(ADAMTS17):c.3127+12C>T rs200475413 0.00016
NM_000138.5(FBN1):c.1371C>G (p.Arg457=) rs25436 0.00015
NM_000138.5(FBN1):c.3423G>A (p.Pro1141=) rs140396599 0.00015
NM_000138.5(FBN1):c.7056C>T (p.Ser2352=) rs149697299 0.00015
NM_139057.4(ADAMTS17):c.1220C>G (p.Ala407Gly) rs201734269 0.00015
NM_000138.5(FBN1):c.3936C>T (p.Ser1312=) rs779913610 0.00014
NM_000138.5(FBN1):c.5917+3A>G rs202158568 0.00014
NM_000138.5(FBN1):c.7661G>A (p.Arg2554Gln) rs199522781 0.00014
NM_030957.4(ADAMTS10):c.-153G>A rs568567704 0.00014
NM_139057.4(ADAMTS17):c.*1127C>T rs766519775 0.00014
NM_139057.4(ADAMTS17):c.*464C>T rs148258011 0.00014
NM_000428.3(LTBP2):c.-170G>T rs892707408 0.00013
NM_000428.3(LTBP2):c.2178C>T (p.Ala726=) rs144866585 0.00013
NM_000428.3(LTBP2):c.21C>G (p.Ala7=) rs757559806 0.00013
NM_000428.3(LTBP2):c.220G>C (p.Glu74Gln) rs79886273 0.00013
NM_000428.3(LTBP2):c.2667C>T (p.Asn889=) rs546041607 0.00013
NM_030957.4(ADAMTS10):c.*36T>C rs782348033 0.00013
NM_030957.4(ADAMTS10):c.1395G>A (p.Pro465=) rs367671600 0.00013
NM_139057.4(ADAMTS17):c.*1065G>A rs886050959 0.00013
NM_139057.4(ADAMTS17):c.*2193G>C rs886050955 0.00013
NM_139057.4(ADAMTS17):c.2462G>A (p.Arg821His) rs201503183 0.00013
NM_000138.5(FBN1):c.6576C>T (p.Cys2192=) rs369058466 0.00012
NM_000428.3(LTBP2):c.1612C>T (p.Arg538Trp) rs147534770 0.00012
NM_030957.4(ADAMTS10):c.1367G>A (p.Arg456Gln) rs199769798 0.00012
NM_139057.4(ADAMTS17):c.*611C>T rs906820389 0.00012
NM_000138.5(FBN1):c.*2037T>C rs544842106 0.00011
NM_000138.5(FBN1):c.*2556G>A rs886051221 0.00011
NM_000138.5(FBN1):c.1821T>C (p.Asp607=) rs149133920 0.00011
NM_000138.5(FBN1):c.4214T>G (p.Leu1405Arg) rs767606368 0.00011
NM_000138.5(FBN1):c.7560G>A (p.Thr2520=) rs760425899 0.00011
NM_000428.3(LTBP2):c.4808G>A (p.Arg1603His) rs75200417 0.00011
NM_000428.3(LTBP2):c.5056G>A (p.Val1686Ile) rs139734678 0.00011
NM_000428.3(LTBP2):c.565C>T (p.Pro189Ser) rs199581921 0.00011
NM_030957.4(ADAMTS10):c.1149C>T (p.Gly383=) rs373993156 0.00011
NM_030957.4(ADAMTS10):c.1956G>A (p.Thr652=) rs148493665 0.00011
NM_139057.4(ADAMTS17):c.*2234G>C rs1040541256 0.00011
NM_139057.4(ADAMTS17):c.*2480G>A rs573353500 0.00011
NM_139057.4(ADAMTS17):c.*359A>G rs150430121 0.00011
NM_139057.4(ADAMTS17):c.2883G>A (p.Pro961=) rs550282581 0.00011
NM_139057.4(ADAMTS17):c.3164C>T (p.Thr1055Met) rs371570653 0.00011
NM_000138.5(FBN1):c.2094G>T (p.Pro698=) rs144775475 0.00010
NM_000428.3(LTBP2):c.4476C>T (p.Phe1492=) rs562333691 0.00010
NM_139057.4(ADAMTS17):c.*1288C>T rs902901073 0.00010
NM_139057.4(ADAMTS17):c.*1600C>T rs185290147 0.00010
NM_139057.4(ADAMTS17):c.*2291G>A rs750700990 0.00010
NM_139057.4(ADAMTS17):c.*2425G>A rs868757417 0.00010
NM_139057.4(ADAMTS17):c.1386G>A (p.Pro462=) rs565893965 0.00010
NM_139057.4(ADAMTS17):c.1720C>T (p.Pro574Ser) rs200327256 0.00010
NM_139057.4(ADAMTS17):c.211G>T (p.Ala71Ser) rs1042212825 0.00010
NM_139057.4(ADAMTS17):c.2364G>A (p.Ala788=) rs146286415 0.00010
NM_000138.5(FBN1):c.*1981C>T rs1054860347 0.00009
NM_000138.5(FBN1):c.*2044C>T rs561911965 0.00009
NM_000138.5(FBN1):c.3337+11G>A rs368726848 0.00009
NM_000138.5(FBN1):c.396T>C (p.Asp132=) rs147481356 0.00009
NM_000138.5(FBN1):c.7846A>G (p.Ile2616Val) rs143677764 0.00009
NM_000428.3(LTBP2):c.1301C>T (p.Pro434Leu) rs371940681 0.00009
NM_000428.3(LTBP2):c.4075G>A (p.Ala1359Thr) rs368195399 0.00009
NM_030957.4(ADAMTS10):c.1085-10G>A rs374055293 0.00009
NM_030957.4(ADAMTS10):c.1994G>A (p.Arg665His) rs370179236 0.00009
NM_030957.4(ADAMTS10):c.2415G>A (p.Arg805=) rs782638735 0.00009
NM_139057.4(ADAMTS17):c.*2185G>C rs540201674 0.00009
NM_139057.4(ADAMTS17):c.1889-14C>T rs374520210 0.00009
NM_000138.5(FBN1):c.3171C>T (p.Ser1057=) rs144400069 0.00008
NM_000428.3(LTBP2):c.3753C>T (p.Ser1251=) rs763990884 0.00008
NM_000428.3(LTBP2):c.4869G>A (p.Leu1623=) rs61738022 0.00008
NM_030957.4(ADAMTS10):c.*311A>G rs1045796093 0.00008
NM_139057.4(ADAMTS17):c.*421G>C rs886050968 0.00008
NM_139057.4(ADAMTS17):c.789+15G>A rs374137320 0.00008
NM_000138.5(FBN1):c.*254C>T rs886051243 0.00007
NM_000428.3(LTBP2):c.*2026T>C rs886050748 0.00007
NM_000428.3(LTBP2):c.-64C>T rs886050762 0.00007
NM_000428.3(LTBP2):c.10C>T (p.Arg4Trp) rs773927709 0.00007
NM_000428.3(LTBP2):c.2908+9C>T rs1004486722 0.00007
NM_000428.3(LTBP2):c.3193C>T (p.Leu1065Phe) rs150855472 0.00007
NM_030957.4(ADAMTS10):c.2130C>T (p.Gly710=) rs183691340 0.00007
NM_139057.4(ADAMTS17):c.1385C>T (p.Pro462Leu) rs201356815 0.00007
NM_139057.4(ADAMTS17):c.1981T>C (p.Tyr661His) rs201920741 0.00007
NM_000138.5(FBN1):c.*2592T>C rs752936528 0.00006
NM_000138.5(FBN1):c.4211-10C>T rs28730793 0.00006
NM_000138.5(FBN1):c.5672-15C>G rs776163620 0.00006
NM_000138.5(FBN1):c.6577G>A (p.Glu2193Lys) rs201361628 0.00006
NM_000138.5(FBN1):c.7516G>A (p.Gly2506Ser) rs756295016 0.00006
NM_000138.5(FBN1):c.8071G>A (p.Gly2691Ser) rs145105768 0.00006
NM_000138.5(FBN1):c.8310C>T (p.His2770=) rs112189340 0.00006
NM_000428.3(LTBP2):c.*1743C>T rs781717691 0.00006
NM_000428.3(LTBP2):c.5410T>C (p.Cys1804Arg) rs776552082 0.00006
NM_000428.3(LTBP2):c.989C>T (p.Ala330Val) rs780864087 0.00006
NM_030957.4(ADAMTS10):c.1176C>T (p.His392=) rs371013844 0.00006
NM_030957.4(ADAMTS10):c.613C>T (p.Arg205Trp) rs147270233 0.00006
NM_030957.4(ADAMTS10):c.628C>T (p.Arg210Trp) rs199972750 0.00006
NM_139057.4(ADAMTS17):c.*2316C>G rs886050954 0.00006
NM_139057.4(ADAMTS17):c.*2429G>A rs886050952 0.00006
NM_139057.4(ADAMTS17):c.*2878C>T rs886050950 0.00006
NM_139057.4(ADAMTS17):c.1322A>G (p.Lys441Arg) rs145156568 0.00006
NM_139057.4(ADAMTS17):c.1971C>G (p.Pro657=) rs760290195 0.00006
NM_139057.4(ADAMTS17):c.2004C>T (p.His668=) rs200766799 0.00006
NM_139057.4(ADAMTS17):c.3099C>T (p.Asn1033=) rs374725364 0.00006
NM_139057.4(ADAMTS17):c.3128-6C>T rs148559983 0.00006
NM_139057.4(ADAMTS17):c.552G>C (p.Trp184Cys) rs754980579 0.00006
NM_139057.4(ADAMTS17):c.777C>T (p.Thr259=) rs377212581 0.00006
NM_000138.5(FBN1):c.-123C>A rs1004900313 0.00005
NM_000138.5(FBN1):c.247+10T>C rs367618012 0.00005
NM_000138.5(FBN1):c.4321G>A (p.Gly1441Arg) rs372118067 0.00005
NM_000138.5(FBN1):c.7820-4G>A rs750036723 0.00005
NM_000138.5(FBN1):c.8149G>A (p.Glu2717Lys) rs187553035 0.00005
NM_000428.3(LTBP2):c.2388+8C>T rs201838800 0.00005
NM_000428.3(LTBP2):c.2837C>T (p.Thr946Ile) rs771319126 0.00005
NM_000428.3(LTBP2):c.2852C>T (p.Ser951Leu) rs773718655 0.00005
NM_000428.3(LTBP2):c.3709G>A (p.Glu1237Lys) rs769155905 0.00005
NM_000428.3(LTBP2):c.4178-6G>A rs551478195 0.00005
NM_000428.3(LTBP2):c.5155G>A (p.Val1719Met) rs189020867 0.00005
NM_030957.4(ADAMTS10):c.3043-8C>T rs759098979 0.00005
NM_139057.4(ADAMTS17):c.*1507G>A rs534291888 0.00005
NM_139057.4(ADAMTS17):c.*2289A>G rs945247732 0.00005
NM_139057.4(ADAMTS17):c.*802G>A rs571008658 0.00005
NM_139057.4(ADAMTS17):c.2877G>A (p.Thr959=) rs758555346 0.00005
NM_139057.4(ADAMTS17):c.2950-6C>T rs1447997408 0.00005
NM_139057.4(ADAMTS17):c.590C>T (p.Pro197Leu) rs764391097 0.00005
NM_000138.5(FBN1):c.*1325T>C rs569152308 0.00004
NM_000138.5(FBN1):c.*2221A>G rs886051226 0.00004
NM_000138.5(FBN1):c.*300T>C rs1011876253 0.00004
NM_000138.5(FBN1):c.1602T>C (p.Cys534=) rs377386372 0.00004
NM_000138.5(FBN1):c.1884C>T (p.Cys628=) rs150421653 0.00004
NM_000138.5(FBN1):c.3896C>T (p.Thr1299Met) rs774851476 0.00004
NM_000138.5(FBN1):c.538+4A>G rs375721252 0.00004
NM_000138.5(FBN1):c.5442C>T (p.Asn1814=) rs397515822 0.00004
NM_000138.5(FBN1):c.5724A>G (p.Thr1908=) rs141219664 0.00004
NM_000428.3(LTBP2):c.*929A>G rs1175589944 0.00004
NM_000428.3(LTBP2):c.2197G>A (p.Ala733Thr) rs925483356 0.00004
NM_000428.3(LTBP2):c.2283C>T (p.Ser761=) rs537908823 0.00004
NM_000428.3(LTBP2):c.3278-15G>A rs201661499 0.00004
NM_000428.3(LTBP2):c.607C>T (p.Arg203Cys) rs777450651 0.00004
NM_000428.3(LTBP2):c.905C>T (p.Pro302Leu) rs557904436 0.00004
NM_030957.4(ADAMTS10):c.*209C>T rs1471058531 0.00004
NM_030957.4(ADAMTS10):c.1569G>A (p.Thr523=) rs150203950 0.00004
NM_030957.4(ADAMTS10):c.1971C>T (p.Ala657=) rs557374103 0.00004
NM_030957.4(ADAMTS10):c.309C>T (p.Ser103=) rs1285176283 0.00004
NM_139057.4(ADAMTS17):c.*1130C>T rs377343119 0.00004
NM_139057.4(ADAMTS17):c.*856C>T rs549608045 0.00004
NM_139057.4(ADAMTS17):c.-7G>A rs371479108 0.00004
NM_139057.4(ADAMTS17):c.1008G>A (p.Val336=) rs557358714 0.00004
NM_139057.4(ADAMTS17):c.1748C>T (p.Pro583Leu) rs201586136 0.00004
NM_139057.4(ADAMTS17):c.1824G>A (p.Gln608=) rs753804023 0.00004
NM_139057.4(ADAMTS17):c.1840C>T (p.Arg614Trp) rs200745301 0.00004
NM_139057.4(ADAMTS17):c.2040C>T (p.Ile680=) rs150431950 0.00004
NM_139057.4(ADAMTS17):c.3223C>T (p.Arg1075Cys) rs202106289 0.00004
NM_139057.4(ADAMTS17):c.727G>A (p.Asp243Asn) rs551851234 0.00004
NM_000138.5(FBN1):c.*1375A>C rs1049315076 0.00003
NM_000138.5(FBN1):c.*1619T>A rs374297351 0.00003
NM_000138.5(FBN1):c.*1672G>A rs886051231 0.00003
NM_000138.5(FBN1):c.*845C>T rs1022238055 0.00003
NM_000138.5(FBN1):c.-98G>T rs886051254 0.00003
NM_000138.5(FBN1):c.6890C>T (p.Thr2297Met) rs773785908 0.00003
NM_000138.5(FBN1):c.7241G>A (p.Arg2414Gln) rs143863014 0.00003
NM_000138.5(FBN1):c.8202C>T (p.Asn2734=) rs113904256 0.00003
NM_000138.5(FBN1):c.885T>G (p.Ile295Met) rs151056963 0.00003
NM_000428.3(LTBP2):c.1485G>A (p.Arg495=) rs756729691 0.00003
NM_000428.3(LTBP2):c.1972C>T (p.Arg658Trp) rs180947562 0.00003
NM_000428.3(LTBP2):c.3316G>A (p.Gly1106Arg) rs201430837 0.00003
NM_000428.3(LTBP2):c.3571G>A (p.Glu1191Lys) rs137854862 0.00003
NM_000428.3(LTBP2):c.3606G>T (p.Leu1202=) rs373253770 0.00003
NM_000428.3(LTBP2):c.4159C>T (p.Arg1387Cys) rs747333533 0.00003
NM_000428.3(LTBP2):c.4285C>T (p.Arg1429Trp) rs150484024 0.00003
NM_000428.3(LTBP2):c.4623G>A (p.Glu1541=) rs137871407 0.00003
NM_000428.3(LTBP2):c.5046C>T (p.Pro1682=) rs1194291909 0.00003
NM_000428.3(LTBP2):c.5055C>T (p.Thr1685=) rs764652187 0.00003
NM_000428.3(LTBP2):c.5215A>G (p.Ile1739Val) rs1435761349 0.00003
NM_030957.4(ADAMTS10):c.*411C>T rs886054707 0.00003
NM_030957.4(ADAMTS10):c.-143G>C rs886054716 0.00003
NM_030957.4(ADAMTS10):c.1194C>T (p.Phe398=) rs782096562 0.00003
NM_030957.4(ADAMTS10):c.1794G>C (p.Thr598=) rs145420448 0.00003
NM_030957.4(ADAMTS10):c.2034+11C>T rs116541830 0.00003
NM_030957.4(ADAMTS10):c.592+8G>A rs201882173 0.00003
NM_139057.4(ADAMTS17):c.*1054T>C rs886050960 0.00003
NM_139057.4(ADAMTS17):c.*1749G>A rs757196506 0.00003
NM_139057.4(ADAMTS17):c.*2329T>C rs886050953 0.00003
NM_139057.4(ADAMTS17):c.*639G>A rs886050965 0.00003
NM_139057.4(ADAMTS17):c.1145A>G (p.Asn382Ser) rs755587669 0.00003
NM_139057.4(ADAMTS17):c.1323-12C>T rs770627848 0.00003
NM_139057.4(ADAMTS17):c.1947C>T (p.Ala649=) rs767077707 0.00003
NM_139057.4(ADAMTS17):c.233A>G (p.Glu78Gly) rs886050980 0.00003
NM_139057.4(ADAMTS17):c.2592-10C>T rs751012843 0.00003
NM_139057.4(ADAMTS17):c.3015G>A (p.Gly1005=) rs900832969 0.00003
NM_139057.4(ADAMTS17):c.867A>G (p.Gln289=) rs886050976 0.00003
NM_139057.4(ADAMTS17):c.998C>T (p.Pro333Leu) rs771992023 0.00003
NM_000138.5(FBN1):c.*1249A>G rs1456413075 0.00002
NM_000138.5(FBN1):c.*1398G>C rs886051234 0.00002
NM_000138.5(FBN1):c.*1484C>T rs533502309 0.00002
NM_000138.5(FBN1):c.*253A>T rs539383558 0.00002
NM_000138.5(FBN1):c.2950G>A (p.Val984Ile) rs747713929 0.00002
NM_000138.5(FBN1):c.6095C>G (p.Thr2032Ser) rs756506237 0.00002
NM_000138.5(FBN1):c.6379+4A>G rs780370404 0.00002
NM_000138.5(FBN1):c.8386G>A (p.Glu2796Lys) rs112310699 0.00002
NM_000428.3(LTBP2):c.*1170A>G rs886050749 0.00002
NM_000428.3(LTBP2):c.*1481C>T rs527271189 0.00002
NM_000428.3(LTBP2):c.*609A>C rs1323555762 0.00002
NM_000428.3(LTBP2):c.2041G>A (p.Gly681Ser) rs373539611 0.00002
NM_000428.3(LTBP2):c.3511G>A (p.Gly1171Ser) rs775487511 0.00002
NM_000428.3(LTBP2):c.5182G>A (p.Gly1728Ser) rs759870336 0.00002
NM_000428.3(LTBP2):c.5269T>C (p.Cys1757Arg) rs886050755 0.00002
NM_000428.3(LTBP2):c.5270G>T (p.Cys1757Phe) rs886050754 0.00002
NM_000428.3(LTBP2):c.5296G>T (p.Asp1766Tyr) rs772174775 0.00002
NM_030957.4(ADAMTS10):c.1085-5C>T rs781831794 0.00002
NM_030957.4(ADAMTS10):c.1285A>G (p.Asn429Asp) rs375444463 0.00002
NM_030957.4(ADAMTS10):c.1407G>A (p.Pro469=) rs149014496 0.00002
NM_030957.4(ADAMTS10):c.3268G>A (p.Ala1090Thr) rs782053556 0.00002
NM_030957.4(ADAMTS10):c.518A>G (p.Glu173Gly) rs187757286 0.00002
NM_139057.4(ADAMTS17):c.*200G>A rs548191022 0.00002
NM_139057.4(ADAMTS17):c.*2115C>A rs769848171 0.00002
NM_139057.4(ADAMTS17):c.*465G>A rs886050967 0.00002
NM_139057.4(ADAMTS17):c.2017-10G>C rs765531556 0.00002
NM_139057.4(ADAMTS17):c.520A>C (p.Ser174Arg) rs761591792 0.00002
NM_139057.4(ADAMTS17):c.709C>T (p.Leu237=) rs780909666 0.00002
NM_000138.4(FBN1):c.-319G>T rs886051256 0.00001
NM_000138.5(FBN1):c.*1437G>A rs549498511 0.00001
NM_000138.5(FBN1):c.*202_*203del rs766125141 0.00001
NM_000138.5(FBN1):c.*252G>A rs1407193739 0.00001
NM_000138.5(FBN1):c.*764G>A rs55717426 0.00001
NM_000138.5(FBN1):c.*968G>A rs999275120 0.00001
NM_000138.5(FBN1):c.1837+9T>C rs56102085 0.00001
NM_000138.5(FBN1):c.2979C>T (p.Cys993=) rs150126098 0.00001
NM_000138.5(FBN1):c.3089A>G (p.Asn1030Ser) rs375996640 0.00001
NM_000138.5(FBN1):c.3560A>G (p.His1187Arg) rs193922200 0.00001
NM_000138.5(FBN1):c.3570C>T (p.Pro1190=) rs188317014 0.00001
NM_000138.5(FBN1):c.3740A>T (p.Asn1247Ile) rs568625812 0.00001
NM_000138.5(FBN1):c.4306G>A (p.Val1436Met) rs377338217 0.00001
NM_000138.5(FBN1):c.4313G>A (p.Ser1438Asn) rs587782945 0.00001
NM_000138.5(FBN1):c.4336+11G>A rs886051249 0.00001
NM_000138.5(FBN1):c.5304T>A (p.Asp1768Glu) rs867058901 0.00001
NM_000138.5(FBN1):c.6289G>A (p.Glu2097Lys) rs397515831 0.00001
NM_000138.5(FBN1):c.6739+10C>T rs1179540326 0.00001
NM_000138.5(FBN1):c.6988G>A (p.Glu2330Lys) rs1042807324 0.00001
NM_000138.5(FBN1):c.7360C>A (p.Pro2454Thr) rs1166405014 0.00001
NM_000138.5(FBN1):c.8227-3C>T rs200822151 0.00001
NM_000138.5(FBN1):c.91G>A (p.Ala31Thr) rs371130701 0.00001
NM_000428.3(LTBP2):c.*1776C>T rs1378655630 0.00001
NM_000428.3(LTBP2):c.*206C>T rs192723743 0.00001
NM_000428.3(LTBP2):c.*2112G>A rs949885665 0.00001
NM_000428.3(LTBP2):c.-21A>G rs765474184 0.00001
NM_000428.3(LTBP2):c.-46G>C rs886050761 0.00001
NM_000428.3(LTBP2):c.1097G>A (p.Arg366His) rs759632617 0.00001
NM_000428.3(LTBP2):c.1132A>C (p.Thr378Pro) rs200471693 0.00001
NM_000428.3(LTBP2):c.1613G>A (p.Arg538Gln) rs757892170 0.00001
NM_000428.3(LTBP2):c.2082G>A (p.Gln694=) rs757918162 0.00001
NM_000428.3(LTBP2):c.2449A>G (p.Met817Val) rs2087256544 0.00001
NM_000428.3(LTBP2):c.246G>A (p.Leu82=) rs748744542 0.00001
NM_000428.3(LTBP2):c.249G>A (p.Gln83=) rs779279335 0.00001
NM_000428.3(LTBP2):c.2588A>G (p.Asn863Ser) rs562124154 0.00001
NM_000428.3(LTBP2):c.2788+14G>A rs753628301 0.00001
NM_000428.3(LTBP2):c.2788+15C>G rs376663839 0.00001
NM_000428.3(LTBP2):c.3076A>G (p.Thr1026Ala) rs759008893 0.00001
NM_000428.3(LTBP2):c.3558C>T (p.Cys1186=) rs757843416 0.00001
NM_000428.3(LTBP2):c.3589G>A (p.Gly1197Arg) rs760459796 0.00001
NM_000428.3(LTBP2):c.3645C>T (p.Ser1215=) rs767484358 0.00001
NM_000428.3(LTBP2):c.3851G>A (p.Arg1284His) rs201598003 0.00001
NM_000428.3(LTBP2):c.4370-14G>A rs750045564 0.00001
NM_000428.3(LTBP2):c.4535T>G (p.Leu1512Arg) rs769745393 0.00001
NM_000428.3(LTBP2):c.482G>A (p.Gly161Glu) rs1469851587 0.00001
NM_000428.3(LTBP2):c.5347G>A (p.Gly1783Arg) rs549156119 0.00001
NM_000428.3(LTBP2):c.713G>A (p.Arg238His) rs943163124 0.00001
NM_000428.3(LTBP2):c.970A>C (p.Arg324=) rs372209109 0.00001
NM_030957.4(ADAMTS10):c.*330A>T rs1302375936 0.00001
NM_030957.4(ADAMTS10):c.*563C>A rs1426786259 0.00001
NM_030957.4(ADAMTS10):c.-233G>T rs1379274351 0.00001
NM_030957.4(ADAMTS10):c.1212C>T (p.Gly404=) rs1555740123 0.00001
NM_030957.4(ADAMTS10):c.1530C>G (p.Thr510=) rs886054715 0.00001
NM_030957.4(ADAMTS10):c.1880A>C (p.Lys627Thr) rs782712334 0.00001
NM_030957.4(ADAMTS10):c.1987C>A (p.Pro663Thr) rs886054714 0.00001
NM_030957.4(ADAMTS10):c.2239+10T>C rs782597342 0.00001
NM_030957.4(ADAMTS10):c.2433C>T (p.Leu811=) rs886054712 0.00001
NM_030957.4(ADAMTS10):c.487G>A (p.Gly163Ser) rs373876511 0.00001
NM_030957.4(ADAMTS10):c.517G>A (p.Glu173Lys) rs782396164 0.00001
NM_030957.4(ADAMTS10):c.644C>T (p.Pro215Leu) rs782497547 0.00001
NM_139057.4(ADAMTS17):c.*111C>T rs886050971 0.00001
NM_139057.4(ADAMTS17):c.*1348dup rs545574106 0.00001
NM_139057.4(ADAMTS17):c.*1741A>T rs542106384 0.00001
NM_139057.4(ADAMTS17):c.*261G>A rs886050970 0.00001
NM_139057.4(ADAMTS17):c.*805G>A rs889232446 0.00001
NM_139057.4(ADAMTS17):c.*850C>T rs886050964 0.00001
NM_139057.4(ADAMTS17):c.-4T>C rs886050984 0.00001
NM_139057.4(ADAMTS17):c.1030A>G (p.Arg344Gly) rs1442746480 0.00001
NM_139057.4(ADAMTS17):c.105G>A (p.Val35=) rs558036408 0.00001
NM_139057.4(ADAMTS17):c.1071T>G (p.Thr357=) rs1450190162 0.00001
NM_139057.4(ADAMTS17):c.1075+10G>C rs943576519 0.00001
NM_139057.4(ADAMTS17):c.1248G>A (p.Glu416=) rs371229459 0.00001
NM_139057.4(ADAMTS17):c.1323-11G>A rs74442617 0.00001
NM_139057.4(ADAMTS17):c.1431G>T (p.Gln477His) rs765427198 0.00001
NM_139057.4(ADAMTS17):c.1721C>T (p.Pro574Leu) rs200960936 0.00001
NM_139057.4(ADAMTS17):c.1804C>T (p.Pro602Ser) rs756454329 0.00001
NM_139057.4(ADAMTS17):c.1888+9A>C rs201219446 0.00001
NM_139057.4(ADAMTS17):c.1923G>A (p.Gly641=) rs749551110 0.00001
NM_139057.4(ADAMTS17):c.2017-3T>C rs760792591 0.00001
NM_139057.4(ADAMTS17):c.2067C>T (p.Cys689=) rs200809221 0.00001
NM_139057.4(ADAMTS17):c.2388A>G (p.Lys796=) rs763171758 0.00001
NM_139057.4(ADAMTS17):c.2706C>T (p.Pro902=) rs777524361 0.00001
NM_139057.4(ADAMTS17):c.2865C>T (p.Cys955=) rs746354760 0.00001
NM_139057.4(ADAMTS17):c.2923G>A (p.Glu975Lys) rs775321973 0.00001
NM_139057.4(ADAMTS17):c.3020A>T (p.His1007Leu) rs1375656495 0.00001
NM_139057.4(ADAMTS17):c.3068G>A (p.Cys1023Tyr) rs144662002 0.00001
NM_139057.4(ADAMTS17):c.307C>T (p.Leu103=) rs1360871464 0.00001
NM_139057.4(ADAMTS17):c.616+7C>T rs886050978 0.00001
NM_139057.4(ADAMTS17):c.790-6T>C rs886050977 0.00001
NM_000138.4(FBN1):c.-371T>C rs886051257
NM_000138.4(FBN1):c.-389_-388TC[1] rs886051258
NM_000138.4(FBN1):c.-400A>T rs1890299170
NM_000138.5(FBN1):c.*1007G>T rs886051236
NM_000138.5(FBN1):c.*107A>G rs562749473
NM_000138.5(FBN1):c.*1122C>T rs2042846511
NM_000138.5(FBN1):c.*1201T>G rs574181586
NM_000138.5(FBN1):c.*1396C>T rs886051235
NM_000138.5(FBN1):c.*1477C>A rs886051233
NM_000138.5(FBN1):c.*1562G>T rs78442438
NM_000138.5(FBN1):c.*1635C>A rs886051232
NM_000138.5(FBN1):c.*1733A>G rs886051230
NM_000138.5(FBN1):c.*1943G>T rs886051229
NM_000138.5(FBN1):c.*1950dup rs535798341
NM_000138.5(FBN1):c.*2078G>T rs886051228
NM_000138.5(FBN1):c.*2114T>A rs886051227
NM_000138.5(FBN1):c.*2260C>A rs886051225
NM_000138.5(FBN1):c.*235T>C rs1597506366
NM_000138.5(FBN1):c.*2421C>A rs886051224
NM_000138.5(FBN1):c.*2443G>T rs886051223
NM_000138.5(FBN1):c.*2533C>A rs886051222
NM_000138.5(FBN1):c.*2578C>T rs761025257
NM_000138.5(FBN1):c.*2594G>T rs886051220
NM_000138.5(FBN1):c.*2638T>C rs886051219
NM_000138.5(FBN1):c.*268G>C rs886051242
NM_000138.5(FBN1):c.*286C>T rs886051241
NM_000138.5(FBN1):c.*311G>A rs894774727
NM_000138.5(FBN1):c.*325T>C rs537909430
NM_000138.5(FBN1):c.*399C>A rs2042852375
NM_000138.5(FBN1):c.*406G>T rs886051240
NM_000138.5(FBN1):c.*724A>C rs886051239
NM_000138.5(FBN1):c.*938G>T rs886051238
NM_000138.5(FBN1):c.*948G>T rs749224599
NM_000138.5(FBN1):c.*960del rs527621676
NM_000138.5(FBN1):c.*967C>T rs56024388
NM_000138.5(FBN1):c.*987C>T rs886051237
NM_000138.5(FBN1):c.-108G>A rs1029606067
NM_000138.5(FBN1):c.-132A>C rs886051255
NM_000138.5(FBN1):c.-35C>T rs199781948
NM_000138.5(FBN1):c.-70C>A rs886051253
NM_000138.5(FBN1):c.1193G>A (p.Arg398Lys) rs886051250
NM_000138.5(FBN1):c.1468+4C>A rs765579667
NM_000138.5(FBN1):c.2031T>A (p.Ala677=) rs762312642
NM_000138.5(FBN1):c.2219A>G (p.Glu740Gly) rs2043616665
NM_000138.5(FBN1):c.223C>T (p.Pro75Ser) rs886051252
NM_000138.5(FBN1):c.2903C>T (p.Thr968Ile) rs781698952
NM_000138.5(FBN1):c.3224G>A (p.Arg1075His) rs369745372
NM_000138.5(FBN1):c.3574A>G (p.Arg1192Gly) rs2043513994
NM_000138.5(FBN1):c.3712+9G>T rs769251450
NM_000138.5(FBN1):c.38T>G (p.Phe13Cys) rs773614956
NM_000138.5(FBN1):c.443-15C>A rs2044516377
NM_000138.5(FBN1):c.4998C>T (p.Thr1666=) rs141925790
NM_000138.5(FBN1):c.5066-14dup rs3833018
NM_000138.5(FBN1):c.5405A>G (p.Lys1802Arg) rs886051248
NM_000138.5(FBN1):c.5428G>T (p.Asp1810Tyr) rs2043210566
NM_000138.5(FBN1):c.5429A>T (p.Asp1810Val) rs2043210544
NM_000138.5(FBN1):c.5788+4C>A rs577301285
NM_000138.5(FBN1):c.5826C>A (p.Cys1942Ter) rs363806
NM_000138.5(FBN1):c.589G>C (p.Gly197Arg) rs886051251
NM_000138.5(FBN1):c.6264G>C (p.Lys2088Asn) rs886051247
NM_000138.5(FBN1):c.6357G>C (p.Val2119=) rs886051246
NM_000138.5(FBN1):c.6582G>T (p.Glu2194Asp) rs2043050683
NM_000138.5(FBN1):c.6605T>A (p.Met2202Lys) rs2043050244
NM_000138.5(FBN1):c.673C>G (p.Pro225Ala) rs2044025163
NM_000138.5(FBN1):c.6801C>T (p.Asn2267=) rs886051245
NM_000138.5(FBN1):c.6832C>T (p.Pro2278Ser) rs363835
NM_000138.5(FBN1):c.7064G>A (p.Arg2355Lys) rs376372763
NM_000138.5(FBN1):c.723G>A (p.Thr241=) rs757264206
NM_000138.5(FBN1):c.7554C>A (p.His2518Gln) rs2042946233
NM_000138.5(FBN1):c.8011C>T (p.Leu2671=) rs886051244
NM_000138.5(FBN1):c.8185A>C (p.Lys2729Gln) rs370096856
NM_000138.5(FBN1):c.8356A>G (p.Thr2786Ala) rs781352764
NM_000428.3(LTBP2):c.*1029G>A rs2086890935
NM_000428.3(LTBP2):c.*10dup rs546442756
NM_000428.3(LTBP2):c.*1302G>A rs191692241
NM_000428.3(LTBP2):c.*1302G>C rs191692241
NM_000428.3(LTBP2):c.*1393T>C rs2086887490
NM_000428.3(LTBP2):c.*147A>T rs886050753
NM_000428.3(LTBP2):c.*1518_*1520dup rs565536636
NM_000428.3(LTBP2):c.*1777A>G rs1419112516
NM_000428.3(LTBP2):c.*2236C>T rs753803515
NM_000428.3(LTBP2):c.*2266G>A rs886050747
NM_000428.3(LTBP2):c.*233A>G rs886050752
NM_000428.3(LTBP2):c.*2353T>C rs552983028
NM_000428.3(LTBP2):c.*2419C>T rs1595233261
NM_000428.3(LTBP2):c.*316C>G rs957387729
NM_000428.3(LTBP2):c.*373A>G rs886050751
NM_000428.3(LTBP2):c.*384G>C rs2086896920
NM_000428.3(LTBP2):c.*397C>A rs2086896748
NM_000428.3(LTBP2):c.*638T>G rs886050750
NM_000428.3(LTBP2):c.*742C>T rs913148674
NM_000428.3(LTBP2):c.-222C>G rs886050764
NM_000428.3(LTBP2):c.-33C>A rs886050760
NM_000428.3(LTBP2):c.-97C>T rs886050763
NM_000428.3(LTBP2):c.110G>T (p.Arg37Met) rs934996
NM_000428.3(LTBP2):c.1199G>C (p.Cys400Ser) rs987914104
NM_000428.3(LTBP2):c.1382C>G (p.Pro461Arg) rs765689019
NM_000428.3(LTBP2):c.1531C>A (p.Pro511Thr) rs553562104
NM_000428.3(LTBP2):c.1656C>T (p.Gly552=) rs764120281
NM_000428.3(LTBP2):c.1745C>T (p.Ala582Val) rs886050759
NM_000428.3(LTBP2):c.1760C>T (p.Thr587Ile) rs886050758
NM_000428.3(LTBP2):c.1833G>A (p.Gly611=) rs775155970
NM_000428.3(LTBP2):c.1978C>G (p.Arg660Gly) rs199581688
NM_000428.3(LTBP2):c.2388+8C>G rs201838800
NM_000428.3(LTBP2):c.2885T>C (p.Met962Thr) rs886050757
NM_000428.3(LTBP2):c.3114G>A (p.Gln1038=) rs886050756
NM_000428.3(LTBP2):c.3176C>A (p.Ala1059Asp) rs369840829
NM_000428.3(LTBP2):c.3634G>T (p.Gly1212Trp) rs200532538
NM_000428.3(LTBP2):c.3815G>A (p.Gly1272Asp) rs2087004341
NM_000428.3(LTBP2):c.4232T>G (p.Met1411Arg) rs578210394
NM_000428.3(LTBP2):c.4955G>T (p.Arg1652Leu) rs773510546
NM_000428.3(LTBP2):c.5181C>T (p.Ala1727=) rs372981316
NM_000428.3(LTBP2):c.804G>A (p.Pro268=) rs139052892
NM_030957.3(ADAMTS10):c.3043-12_3043-6dup rs138501563
NM_030957.4(ADAMTS10):c.*157G>A rs2042332746
NM_030957.4(ADAMTS10):c.*238dup rs151216219
NM_030957.4(ADAMTS10):c.*322C>T rs886054708
NM_030957.4(ADAMTS10):c.*447G>T rs1385837919
NM_030957.4(ADAMTS10):c.*456del rs34057037
NM_030957.4(ADAMTS10):c.*456dup rs34057037
NM_030957.4(ADAMTS10):c.*47A>G rs905913217
NM_030957.4(ADAMTS10):c.*578C>A rs2042325419
NM_030957.4(ADAMTS10):c.*81G>C rs886054709
NM_030957.4(ADAMTS10):c.*81G>T rs886054709
NM_030957.4(ADAMTS10):c.*85dup rs576948646
NM_030957.4(ADAMTS10):c.-99-7C>G rs907764817
NM_030957.4(ADAMTS10):c.146A>G (p.His49Arg) rs1555742346
NM_030957.4(ADAMTS10):c.1480-4G>T rs368465218
NM_030957.4(ADAMTS10):c.1568C>T (p.Thr523Met) rs782308360
NM_030957.4(ADAMTS10):c.1655C>G (p.Pro552Arg) rs1216168299
NM_030957.4(ADAMTS10):c.1797+11C>A rs2042533385
NM_030957.4(ADAMTS10):c.1901-13C>A rs782114199
NM_030957.4(ADAMTS10):c.198C>T (p.Arg66=) rs149789969
NM_030957.4(ADAMTS10):c.2005G>T (p.Val669Leu) rs144596955
NM_030957.4(ADAMTS10):c.2220C>T (p.Asn740=) rs886054713
NM_030957.4(ADAMTS10):c.2404-9T>C rs2042432536
NM_030957.4(ADAMTS10):c.24C>A (p.Leu8=) rs1555742491
NM_030957.4(ADAMTS10):c.2530+9G>A rs782625211
NM_030957.4(ADAMTS10):c.292C>T (p.Leu98=) rs2042706336
NM_030957.4(ADAMTS10):c.3159T>C (p.Cys1053=) rs886054711
NM_030957.4(ADAMTS10):c.3202+13C>T rs886054710
NM_030957.4(ADAMTS10):c.335T>C (p.Leu112Pro) rs782581897
NM_030957.4(ADAMTS10):c.557G>T (p.Arg186Leu) rs781891774
NM_030957.4(ADAMTS10):c.834G>A (p.Ser278=) rs782449192
NM_139057.4(ADAMTS17):c.*1011_*1016del rs879713910
NM_139057.4(ADAMTS17):c.*1014_*1019del rs11277519
NM_139057.4(ADAMTS17):c.*1016C>T rs886050962
NM_139057.4(ADAMTS17):c.*1024T>G rs886050961
NM_139057.4(ADAMTS17):c.*1213G>C rs982642681
NM_139057.4(ADAMTS17):c.*1218T>C rs886050958
NM_139057.4(ADAMTS17):c.*1227AAGG[1] rs10549565
NM_139057.4(ADAMTS17):c.*1278A>G rs2060245859
NM_139057.4(ADAMTS17):c.*1419G>A rs75143725
NM_139057.4(ADAMTS17):c.*1431TCC[1] rs757487035
NM_139057.4(ADAMTS17):c.*1642G>A rs577902130
NM_139057.4(ADAMTS17):c.*1708G>C rs769909152
NM_139057.4(ADAMTS17):c.*172_*174del rs137961566
NM_139057.4(ADAMTS17):c.*1759G>C rs539776359
NM_139057.4(ADAMTS17):c.*1773G>T rs74037057
NM_139057.4(ADAMTS17):c.*1780G>A rs886050957
NM_139057.4(ADAMTS17):c.*181C>T rs760184660
NM_139057.4(ADAMTS17):c.*1899del rs138786481
NM_139057.4(ADAMTS17):c.*19G>A rs201992797
NM_139057.4(ADAMTS17):c.*2013T>A rs2727194
NM_139057.4(ADAMTS17):c.*2013T>G rs2727194
NM_139057.4(ADAMTS17):c.*2015T>C rs956479865
NM_139057.4(ADAMTS17):c.*2142GTT[1] rs886050956
NM_139057.4(ADAMTS17):c.*2157AG[1] rs144918924
NM_139057.4(ADAMTS17):c.*2172T>C rs191191512
NM_139057.4(ADAMTS17):c.*2186T>C rs943727216
NM_139057.4(ADAMTS17):c.*2196C>T rs528240967
NM_139057.4(ADAMTS17):c.*221G>A rs1286406738
NM_139057.4(ADAMTS17):c.*2228G>C rs541793251
NM_139057.4(ADAMTS17):c.*2290C>T rs374783295
NM_139057.4(ADAMTS17):c.*2292C>T rs371938855
NM_139057.4(ADAMTS17):c.*2305T>C rs2060219977
NM_139057.4(ADAMTS17):c.*2354C>G rs8036076
NM_139057.4(ADAMTS17):c.*2354C>T rs8036076
NM_139057.4(ADAMTS17):c.*2355G>C rs564194386
NM_139057.4(ADAMTS17):c.*2472C>G rs138099553
NM_139057.4(ADAMTS17):c.*2472C>T rs138099553
NM_139057.4(ADAMTS17):c.*2501C>T rs2060214433
NM_139057.4(ADAMTS17):c.*2532G>A rs886050951
NM_139057.4(ADAMTS17):c.*2600C>T rs2060211133
NM_139057.4(ADAMTS17):c.*2605G>C rs191759654
NM_139057.4(ADAMTS17):c.*260C>T rs747343009
NM_139057.4(ADAMTS17):c.*2626_*2628del rs543559051
NM_139057.4(ADAMTS17):c.*2637C>G rs529849561
NM_139057.4(ADAMTS17):c.*2645C>T rs114391483
NM_139057.4(ADAMTS17):c.*2652A>T rs994363579
NM_139057.4(ADAMTS17):c.*2678T>G rs2060208704
NM_139057.4(ADAMTS17):c.*2738G>C rs535694449
NM_139057.4(ADAMTS17):c.*290C>A rs1016206521
NM_139057.4(ADAMTS17):c.*2934G>T rs1241129749
NM_139057.4(ADAMTS17):c.*293G>A rs886050969
NM_139057.4(ADAMTS17):c.*376T>G rs2060267332
NM_139057.4(ADAMTS17):c.*429A>C rs2581346
NM_139057.4(ADAMTS17):c.*481G>A rs1046788827
NM_139057.4(ADAMTS17):c.*498A>C rs2573651
NM_139057.4(ADAMTS17):c.*498A>T rs2573651
NM_139057.4(ADAMTS17):c.*567G>A rs2573649
NM_139057.4(ADAMTS17):c.*567G>C rs2573649
NM_139057.4(ADAMTS17):c.*612G>T rs574728895
NM_139057.4(ADAMTS17):c.*620T>C rs1164434838
NM_139057.4(ADAMTS17):c.*857G>A rs552737711
NM_139057.4(ADAMTS17):c.*882G>C rs2581358
NM_139057.4(ADAMTS17):c.*882G>T rs2581358
NM_139057.4(ADAMTS17):c.*901G>A rs962309056
NM_139057.4(ADAMTS17):c.*963C>T rs563070394
NM_139057.4(ADAMTS17):c.*99A>G rs58960452
NM_139057.4(ADAMTS17):c.-19del rs150933882
NM_139057.4(ADAMTS17):c.-19dup rs150933882
NM_139057.4(ADAMTS17):c.-20G>A rs569251254
NM_139057.4(ADAMTS17):c.-20G>C rs569251254
NM_139057.4(ADAMTS17):c.-20G>T rs569251254
NM_139057.4(ADAMTS17):c.-37C>T rs1419969888
NM_139057.4(ADAMTS17):c.-62C>A rs886050985
NM_139057.4(ADAMTS17):c.1208A>G (p.His403Arg) rs886050975
NM_139057.4(ADAMTS17):c.1302T>C (p.Asp434=) rs559102316
NM_139057.4(ADAMTS17):c.1337C>T (p.Thr446Ile) rs72755233
NM_139057.4(ADAMTS17):c.135C>A (p.Pro45=) rs958960649
NM_139057.4(ADAMTS17):c.1587G>A (p.Ala529=) rs767074176
NM_139057.4(ADAMTS17):c.1587G>C (p.Ala529=) rs767074176
NM_139057.4(ADAMTS17):c.1607C>T (p.Thr536Met) rs1244171699
NM_139057.4(ADAMTS17):c.1661T>G (p.Met554Arg) rs770984984
NM_139057.4(ADAMTS17):c.1696A>C (p.Arg566=) rs12907333
NM_139057.4(ADAMTS17):c.2138-13A>G rs2032359159
NM_139057.4(ADAMTS17):c.214C>A (p.Pro72Thr) rs946108501
NM_139057.4(ADAMTS17):c.224G>T (p.Arg75Leu) rs886050981
NM_139057.4(ADAMTS17):c.2295+3A>G
NM_139057.4(ADAMTS17):c.22C>T (p.Pro8Ser) rs770794109
NM_139057.4(ADAMTS17):c.2348C>T (p.Pro783Leu) rs144007074
NM_139057.4(ADAMTS17):c.2372A>G (p.Gln791Arg) rs545996605
NM_139057.4(ADAMTS17):c.2431G>C (p.Gly811Arg) rs201676815
NM_139057.4(ADAMTS17):c.2518G>A (p.Asp840Asn) rs147316982
NM_139057.4(ADAMTS17):c.2592-9G>A rs373353462
NM_139057.4(ADAMTS17):c.2592-9G>T rs373353462
NM_139057.4(ADAMTS17):c.2731G>C (p.Ala911Pro) rs886050974
NM_139057.4(ADAMTS17):c.2733G>A (p.Ala911=) rs139105066
NM_139057.4(ADAMTS17):c.3111C>A (p.Ile1037=) rs886050973
NM_139057.4(ADAMTS17):c.3121C>T (p.Arg1041Cys) rs149434438
NM_139057.4(ADAMTS17):c.3138C>T (p.Thr1046=) rs112214202
NM_139057.4(ADAMTS17):c.3144A>G (p.Lys1048=) rs886050972
NM_139057.4(ADAMTS17):c.3165G>C (p.Thr1055=) rs141373128
NM_139057.4(ADAMTS17):c.3285G>A (p.Ser1095=) rs144817994
NM_139057.4(ADAMTS17):c.405C>G (p.Pro135=) rs1426438937
NM_139057.4(ADAMTS17):c.72G>A (p.Pro24=) rs1596563056
NM_139057.4(ADAMTS17):c.79+3A>C rs2046376517
NM_139057.4(ADAMTS17):c.80-10C>G rs886050983

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