ClinVar Miner

List of variants studied for Marfan and Marfan-related disorder by Invitae

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8446
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HGVS dbSNP gnomAD frequency
NM_001999.4(FBN2):c.7200T>C (p.Ser2400=) rs190450 0.69111
NM_001999.4(FBN2):c.5675-9C>T rs27713 0.68788
NM_001999.4(FBN2):c.2893G>A (p.Val965Ile) rs154001 0.68054
NM_000138.5(FBN1):c.6997+17C>G rs363832 0.67656
NM_001999.4(FBN2):c.533-2432T>C rs17677603 0.50039
NM_001999.4(FBN2):c.6880+17G>A rs2042327 0.45423
NM_000138.5(FBN1):c.1875T>C (p.Asn625=) rs25458 0.25074
NM_000138.5(FBN1):c.3464-5G>A rs11853943 0.16287
NM_001999.4(FBN2):c.111G>A (p.Pro37=) rs55715053 0.14249
NM_001999.4(FBN2):c.6511+15A>G rs56131649 0.14023
NM_001999.4(FBN2):c.8274C>T (p.Ser2758=) rs10070365 0.13267
NM_001999.4(FBN2):c.6931A>G (p.Met2311Val) rs32209 0.11103
NM_001999.4(FBN2):c.183C>G (p.Pro61=) rs73348287 0.10581
NM_001999.4(FBN2):c.5823T>C (p.His1941=) rs11955288 0.09446
NM_001999.4(FBN2):c.4718-13T>C rs10044959 0.07765
NM_001999.4(FBN2):c.7739C>T (p.Ser2580Leu) rs2291628 0.07011
NM_001999.4(FBN2):c.7013-5T>C rs28763927 0.06995
NM_000138.5(FBN1):c.156G>T (p.Ala52=) rs25398 0.06859
NM_001032283.3(TMPO):c.565+2214C>G rs17459334 0.06758
NM_003036.4(SKI):c.185C>G (p.Ala62Gly) rs28384811 0.05253
NM_001999.4(FBN2):c.5675-9del rs112666443 0.05000
NM_001999.4(FBN2):c.6292+12C>A rs10042349 0.04495
NM_001032283.3(TMPO):c.565+1369C>G rs35969221 0.03471
NM_001999.4(FBN2):c.203C>T (p.Ala68Val) rs62390671 0.03303
NM_000138.5(FBN1):c.6855T>C (p.Asp2285=) rs363836 0.02755
NM_001999.4(FBN2):c.8733C>G (p.Leu2911=) rs34383505 0.02500
NM_001999.4(FBN2):c.4098A>C (p.Thr1366=) rs28763943 0.02427
NM_000138.5(FBN1):c.6888G>A (p.Gln2296=) rs363830 0.02418
NM_000138.5(FBN1):c.7819+8A>C rs363838 0.02324
NM_001032283.3(TMPO):c.565+1665A>G rs11838270 0.02179
NM_000138.5(FBN1):c.1960+30G>A rs25459 0.01932
NM_001032283.3(TMPO):c.565+1296T>G rs35645287 0.01895
NM_001999.4(FBN2):c.3015G>A (p.Leu1005=) rs28763946 0.01862
NM_001032283.3(TMPO):c.565+1132T>G rs35998138 0.01742
NM_001032283.3(TMPO):c.565+1853G>C rs35761089 0.01735
NM_000138.5(FBN1):c.4460-19A>G rs55840194 0.01556
NM_003238.6(TGFB2):c.643+7A>C rs7531245 0.01418
NM_000138.5(FBN1):c.3082+6A>G rs79321504 0.01406
NM_003036.4(SKI):c.99C>G (p.Gly33=) rs200019352 0.01364
NM_000138.5(FBN1):c.3442C>G (p.Pro1148Ala) rs140598 0.01315
NM_001032283.3(TMPO):c.565+2051T>A rs12316677 0.01280
NM_001032283.3(TMPO):c.565+1890T>G rs80325832 0.01253
NM_001032283.3(TMPO):c.565+1344G>C rs114939776 0.01252
NM_003036.4(SKI):c.294C>T (p.Thr98=) rs115746142 0.01188
NM_003239.5(TGFB3):c.1122C>G (p.Ala374=) rs4252345 0.01156
NM_000138.5(FBN1):c.3294C>T (p.Asp1098=) rs140587 0.01051
NM_001999.4(FBN2):c.2778C>T (p.Ala926=) rs28763948 0.00992
NM_003036.4(SKI):c.456C>T (p.Arg152=) rs149898447 0.00976
NM_003036.4(SKI):c.1211+11G>A rs115186522 0.00934
NM_001999.4(FBN2):c.1466-5C>T rs28763952 0.00887
NM_001999.4(FBN2):c.7296G>T (p.Gln2432His) rs34600572 0.00870
NM_000138.5(FBN1):c.3965-8T>C rs140637 0.00859
NM_001999.4(FBN2):c.4312G>A (p.Glu1438Lys) rs56168072 0.00832
NM_001999.4(FBN2):c.3166G>T (p.Ala1056Ser) rs28763945 0.00784
NM_000138.5(FBN1):c.986T>C (p.Ile329Thr) rs12324002 0.00737
NM_001999.4(FBN2):c.728T>C (p.Ile243Thr) rs117524265 0.00674
NM_001999.4(FBN2):c.976C>T (p.Pro326Ser) rs28763954 0.00654
NM_001999.4(FBN2):c.8154C>T (p.Leu2718=) rs34119447 0.00635
NM_003036.4(SKI):c.1974C>T (p.Arg658=) rs201895384 0.00623
NM_001999.4(FBN2):c.629-9A>G rs56025995 0.00616
NM_001999.4(FBN2):c.8347G>C (p.Glu2783Gln) rs76756898 0.00599
NM_001032283.3(TMPO):c.225G>A (p.Pro75=) rs59027673 0.00590
NM_001032283.3(TMPO):c.565+2487C>T rs17028450 0.00576
NM_001999.4(FBN2):c.3762C>T (p.Asp1254=) rs2279582 0.00570
NM_003036.4(SKI):c.1446G>A (p.Ala482=) rs114345135 0.00570
NM_000138.5(FBN1):c.5343G>A (p.Val1781=) rs140649 0.00561
NM_000138.5(FBN1):c.2855-9C>T rs140590 0.00556
NM_000138.5(FBN1):c.1029G>A (p.Gly343=) rs75655780 0.00545
NM_001999.4(FBN2):c.1285A>G (p.Ser429Gly) rs115242287 0.00534
NM_000138.5(FBN1):c.6393C>T (p.Cys2131=) rs61730051 0.00522
NM_003239.5(TGFB3):c.39C>T (p.Ala13=) rs11466415 0.00461
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_001999.4(FBN2):c.6000A>G (p.Leu2000=) rs148293104 0.00434
NM_001999.4(FBN2):c.1040G>A (p.Arg347His) rs112428886 0.00427
NM_001999.4(FBN2):c.6512-17G>C rs28763932 0.00427
NM_001999.4(FBN2):c.6615C>T (p.Asp2205=) rs28763931 0.00422
NM_003036.4(SKI):c.1834C>T (p.Leu612=) rs35833638 0.00418
NM_003036.4(SKI):c.1163C>T (p.Ala388Val) rs75280988 0.00410
NM_001999.4(FBN2):c.5496C>T (p.Arg1832=) rs35346129 0.00388
NM_000138.5(FBN1):c.306C>T (p.Cys102=) rs25388 0.00372
NM_001999.4(FBN2):c.6511+5G>A rs200608284 0.00363
NM_000138.5(FBN1):c.3082+8del rs193922196 0.00359
NM_003238.6(TGFB2):c.1239C>T (p.Cys413=) rs141225367 0.00359
NM_003238.6(TGFB2):c.619G>C (p.Val207Leu) rs10482810 0.00359
NM_001999.4(FBN2):c.7824C>T (p.Thr2608=) rs28763922 0.00339
NM_001999.4(FBN2):c.4141C>A (p.His1381Asn) rs78727187 0.00327
NM_000138.5(FBN1):c.2678-15C>T rs181681840 0.00324
NM_003036.4(SKI):c.1410C>T (p.Pro470=) rs150985728 0.00322
NM_000138.5(FBN1):c.8283A>T (p.Thr2761=) rs146120912 0.00314
NM_000138.5(FBN1):c.2055C>T (p.Cys685=) rs140603 0.00304
NM_003238.6(TGFB2):c.272G>A (p.Arg91His) rs10482721 0.00297
NM_001999.4(FBN2):c.7181T>C (p.Ile2394Thr) rs28763926 0.00287
NM_001032283.3(TMPO):c.565+1240G>A rs139700737 0.00284
NM_003036.4(SKI):c.1527C>T (p.Ser509=) rs111935632 0.00270
NM_000138.5(FBN1):c.7497A>G (p.Leu2499=) rs148516442 0.00268
NM_001999.4(FBN2):c.4206C>T (p.Asn1402=) rs34201226 0.00261
NM_001999.4(FBN2):c.8247A>G (p.Thr2749=) rs116413101 0.00251
NM_001999.4(FBN2):c.2428+6T>A rs77493726 0.00225
NM_001999.4(FBN2):c.829G>A (p.Val277Ile) rs146849637 0.00210
NM_001999.4(FBN2):c.7471+6G>A rs200998513 0.00205
NM_001999.4(FBN2):c.738G>A (p.Ala246=) rs150087436 0.00200
NM_001032283.3(TMPO):c.565+1728G>C rs145703021 0.00188
NM_001999.4(FBN2):c.5353+19C>T rs183524866 0.00179
NM_001999.4(FBN2):c.6551A>T (p.Asn2184Ile) rs149071226 0.00178
NM_003036.4(SKI):c.1211+19C>T rs182600375 0.00178
NM_001999.4(FBN2):c.7593A>G (p.Lys2531=) rs28763923 0.00175
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475 0.00168
NM_003036.4(SKI):c.2184G>C (p.Pro728=) rs543584871 0.00167
NM_000138.5(FBN1):c.2420-8T>C rs140582 0.00163
NM_001999.4(FBN2):c.2940C>T (p.Cys980=) rs143255082 0.00158
NM_001999.4(FBN2):c.5448A>G (p.Pro1816=) rs138022198 0.00158
NM_001032283.3(TMPO):c.87C>T (p.Ala29=) rs114074541 0.00153
NM_001999.4(FBN2):c.953-8T>G rs201818403 0.00152
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_003036.4(SKI):c.1196C>T (p.Ala399Val) rs141862996 0.00148
NM_001032283.3(TMPO):c.565+1696C>T rs141443652 0.00142
NM_001999.4(FBN2):c.2260G>A (p.Gly754Ser) rs145259927 0.00137
NM_001999.4(FBN2):c.2555-7A>G rs28763949 0.00137
NM_001999.4(FBN2):c.4595-11G>C rs199640787 0.00135
NM_001999.4(FBN2):c.8364+7A>T rs185052980 0.00134
NM_001999.4(FBN2):c.5675-12_5675-11insG rs150372632 0.00133
NM_003036.4(SKI):c.1338C>T (p.Leu446=) rs148632347 0.00130
NM_000138.5(FBN1):c.3463+3A>G rs80344206 0.00128
NM_003239.5(TGFB3):c.744C>A (p.Ile248=) rs45477900 0.00123
NM_001999.4(FBN2):c.255-18C>A rs200300875 0.00120
NM_001999.4(FBN2):c.8304C>T (p.Asn2768=) rs28763920 0.00120
NM_001999.4(FBN2):c.1592G>C (p.Gly531Ala) rs34450503 0.00117
NM_000138.5(FBN1):c.6073G>T (p.Ala2025Ser) rs113577372 0.00115
NM_001999.4(FBN2):c.4791C>T (p.Ile1597=) rs147040906 0.00115
NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly) rs61730054 0.00113
NM_000138.5(FBN1):c.7950T>C (p.Asn2650=) rs143055643 0.00113
NM_001999.4(FBN2):c.110C>A (p.Pro37Gln) rs201255083 0.00110
NM_001999.4(FBN2):c.5353+10C>T rs113589974 0.00110
NM_000138.5(FBN1):c.6681A>C (p.Ser2227=) rs363824 0.00109
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr) rs112287730 0.00107
NM_001999.4(FBN2):c.4100-9G>T rs377002313 0.00106
NM_001999.4(FBN2):c.4949-18C>G rs372234336 0.00106
NM_001999.4(FBN2):c.3144C>T (p.Tyr1048=) rs1801167 0.00102
NM_001999.4(FBN2):c.3351C>T (p.Asp1117=) rs78484531 0.00102
NM_001999.4(FBN2):c.6655A>G (p.Ile2219Val) rs140821039 0.00102
NM_001999.4(FBN2):c.4222+12A>G rs79445561 0.00101
NM_001999.4(FBN2):c.3767A>G (p.Gln1256Arg) rs139052603 0.00100
NM_003239.5(TGFB3):c.164G>A (p.Ser55Asn) rs143229915 0.00100
NM_001032283.3(TMPO):c.565+2224A>G rs34983516 0.00098
NM_003036.4(SKI):c.798C>T (p.Ala266=) rs149642284 0.00097
NM_001999.4(FBN2):c.3273T>C (p.Asn1091=) rs116741030 0.00096
NM_003239.5(TGFB3):c.34C>T (p.Leu12=) rs143612445 0.00096
NM_000138.5(FBN1):c.6837G>A (p.Gly2279=) rs140584234 0.00094
NM_003239.5(TGFB3):c.293C>T (p.Ser98Leu) rs142047577 0.00092
NM_000138.5(FBN1):c.783T>C (p.Asn261=) rs113721547 0.00091
NM_003036.4(SKI):c.1851G>A (p.Glu617=) rs146789646 0.00091
NM_000138.5(FBN1):c.6987C>G (p.Asp2329Glu) rs363831 0.00089
NM_003238.6(TGFB2):c.114G>A (p.Glu38=) rs149215818 0.00087
NM_000138.5(FBN1):c.6616+17G>A rs363822 0.00086
NM_001999.4(FBN2):c.3974-19T>C rs112950479 0.00083
NM_003036.4(SKI):c.216C>T (p.Pro72=) rs756778048 0.00083
NM_001999.4(FBN2):c.2427T>A (p.Ile809=) rs139686090 0.00081
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met) rs112084407 0.00078
NM_000138.5(FBN1):c.510C>T (p.Tyr170=) rs111671429 0.00076
NM_001999.4(FBN2):c.4647C>T (p.Asn1549=) rs146662880 0.00076
NM_003036.4(SKI):c.417C>T (p.Ile139=) rs144874401 0.00076
NM_003239.5(TGFB3):c.646+13T>C rs780891440 0.00076
NM_001999.4(FBN2):c.2684A>G (p.Lys895Arg) rs143565958 0.00074
NM_003238.6(TGFB2):c.303G>A (p.Lys101=) rs147052890 0.00072
NM_000138.5(FBN1):c.2934C>G (p.Asp978Glu) rs138438849 0.00070
NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp) rs61746008 0.00070
NM_001032283.3(TMPO):c.350A>G (p.Asn117Ser) rs141387097 0.00068
NM_001999.4(FBN2):c.436+16G>A rs372098570 0.00068
NM_000138.5(FBN1):c.3077T>C (p.Phe1026Ser) rs200381100 0.00067
NM_001999.4(FBN2):c.132G>C (p.Pro44=) rs199702573 0.00067
NM_003036.4(SKI):c.1593T>C (p.Pro531=) rs144279718 0.00065
NM_001032283.3(TMPO):c.565+2149C>T rs34150443 0.00064
NM_003036.4(SKI):c.1308C>T (p.Ala436=) rs139034124 0.00064
NM_001999.4(FBN2):c.7841-16G>T rs201231807 0.00063
NM_003238.6(TGFB2):c.823A>G (p.Ser275Gly) rs139825195 0.00062
NM_001999.4(FBN2):c.1749G>A (p.Gly583=) rs75940000 0.00061
NM_001032283.3(TMPO):c.565+2368G>A rs138295270 0.00058
NM_003036.4(SKI):c.1528G>A (p.Ala510Thr) rs61735580 0.00056
NM_000138.5(FBN1):c.3422C>T (p.Pro1141Leu) rs2228241 0.00054
NM_000138.5(FBN1):c.8385C>T (p.Ile2795=) rs138574576 0.00054
NM_001999.4(FBN2):c.4472-12T>A rs551686237 0.00054
NM_003238.6(TGFB2):c.357G>A (p.Pro119=) rs138514914 0.00054
NM_000138.5(FBN1):c.4683C>T (p.Ser1561=) rs148024160 0.00053
NM_003239.5(TGFB3):c.517-16T>C rs3917176 0.00050
NM_000138.5(FBN1):c.7346A>G (p.Asn2449Ser) rs146166400 0.00049
NM_001999.4(FBN2):c.5674+7A>G rs367877964 0.00049
NM_001999.4(FBN2):c.8537G>A (p.Arg2846His) rs200345491 0.00049
NM_000138.5(FBN1):c.5065+10A>G rs375945405 0.00048
NM_001999.4(FBN2):c.3595G>A (p.Val1199Met) rs146997253 0.00048
NM_001999.4(FBN2):c.6841A>T (p.Ile2281Phe) rs115223340 0.00047
NM_003238.6(TGFB2):c.356C>T (p.Pro119Leu) rs149533093 0.00047
NM_001999.4(FBN2):c.7380C>T (p.Cys2460=) rs147102633 0.00046
NM_003036.4(SKI):c.1734C>T (p.Ser578=) rs117443908 0.00046
NM_000138.5(FBN1):c.5296+14G>A rs140650 0.00045
NM_000138.5(FBN1):c.7098C>T (p.Asp2366=) rs1005074 0.00044
NM_001999.4(FBN2):c.5675-8dup rs767398234 0.00044
NM_000138.5(FBN1):c.3890A>G (p.Glu1297Gly) rs200342067 0.00043
NM_000138.5(FBN1):c.645A>C (p.Arg215=) rs200062771 0.00043
NM_000138.5(FBN1):c.2148A>G (p.Gly716=) rs141039922 0.00042
NM_001999.4(FBN2):c.7012+7G>A rs199735209 0.00042
NM_001999.4(FBN2):c.8257G>A (p.Glu2753Lys) rs146781484 0.00042
NM_001999.4(FBN2):c.1435G>A (p.Gly479Arg) rs147346327 0.00041
NM_001999.4(FBN2):c.8043C>A (p.Pro2681=) rs149502195 0.00041
NM_001999.4(FBN2):c.4246A>G (p.Thr1416Ala) rs200837433 0.00040
NM_001999.4(FBN2):c.209T>C (p.Val70Ala) rs144149249 0.00039
NM_000138.5(FBN1):c.2895G>A (p.Glu965=) rs140591 0.00038
NM_001032283.3(TMPO):c.565+1105C>T rs138790561 0.00038
NM_001032283.3(TMPO):c.565+1750C>G rs142981381 0.00038
NM_001999.4(FBN2):c.8428T>A (p.Ser2810Thr) rs186577030 0.00038
NM_003238.6(TGFB2):c.588C>T (p.Gly196=) rs192335285 0.00038
NM_001032283.3(TMPO):c.565+1848G>A rs34301677 0.00037
NM_001999.4(FBN2):c.7263G>A (p.Gln2421=) rs114376818 0.00036
NM_000138.5(FBN1):c.1265G>A (p.Gly422Glu) rs139968089 0.00035
NM_001999.4(FBN2):c.5031C>T (p.Cys1677=) rs147452231 0.00035
NM_001999.4(FBN2):c.6511+4C>T rs368610241 0.00035
NM_003036.4(SKI):c.1033G>A (p.Ala345Thr) rs150934009 0.00035
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala) rs201273753 0.00034
NM_000138.5(FBN1):c.5964C>T (p.Thr1988=) rs113022801 0.00034
NM_001999.4(FBN2):c.3087C>T (p.Val1029=) rs777392642 0.00034
NM_001999.4(FBN2):c.4472-11A>T rs528062851 0.00034
NM_001999.4(FBN2):c.6666G>A (p.Pro2222=) rs192923239 0.00034
NM_001999.4(FBN2):c.4983C>T (p.Cys1661=) rs143907156 0.00033
NM_001999.4(FBN2):c.7205G>A (p.Arg2402His) rs148014419 0.00033
NM_000138.5(FBN1):c.5788+10C>A rs371560107 0.00032
NM_001999.4(FBN2):c.339G>A (p.Pro113=) rs144540627 0.00032
NM_001999.4(FBN2):c.7012+6C>T rs749376421 0.00032
NM_003036.4(SKI):c.516C>T (p.Pro172=) rs182513685 0.00032
NM_003036.4(SKI):c.948G>A (p.Lys316=) rs368128582 0.00032
NM_003238.6(TGFB2):c.747A>G (p.Arg249=) rs147960792 0.00032
NM_000138.5(FBN1):c.8363C>T (p.Thr2788Met) rs143007898 0.00031
NM_001032283.3(TMPO):c.565+1493A>G rs141347778 0.00031
NM_001999.4(FBN2):c.1256A>G (p.Asp419Gly) rs140464202 0.00031
NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile) rs183306990 0.00030
NM_001999.4(FBN2):c.3740T>C (p.Met1247Thr) rs149054177 0.00030
NM_000138.5(FBN1):c.2175T>C (p.Asn725=) rs140606 0.00029
NM_000138.5(FBN1):c.3058A>G (p.Thr1020Ala) rs111801777 0.00029
NM_000138.5(FBN1):c.4750G>A (p.Glu1584Lys) rs148888513 0.00029
NM_001032283.3(TMPO):c.358C>A (p.Leu120Ile) rs200420073 0.00029
NM_001999.4(FBN2):c.1057A>G (p.Thr353Ala) rs149992874 0.00029
NM_001999.4(FBN2):c.4454A>G (p.Asp1485Gly) rs199665922 0.00029
NM_001999.4(FBN2):c.6946A>T (p.Ile2316Phe) rs201220519 0.00029
NM_003036.4(SKI):c.312A>T (p.Val104=) rs368195821 0.00029
NM_003239.5(TGFB3):c.354C>T (p.Asn118=) rs145051522 0.00029
NM_000138.5(FBN1):c.7072G>A (p.Val2358Ile) rs140537304 0.00028
NM_001999.4(FBN2):c.217C>A (p.Arg73Ser) rs148493036 0.00028
NM_003036.4(SKI):c.1767+9G>C rs181520853 0.00028
NM_000138.5(FBN1):c.2187A>C (p.Leu729=) rs61730055 0.00026
NM_000138.5(FBN1):c.4443C>T (p.Ser1481=) rs145040593 0.00026
NM_000138.5(FBN1):c.539-15del rs193922211 0.00026
NM_000138.5(FBN1):c.5423-4G>A rs377036485 0.00026
NM_001999.4(FBN2):c.1850-9C>T rs199937209 0.00026
NM_001999.4(FBN2):c.2249-19A>G rs193091226 0.00026
NM_001999.4(FBN2):c.2651G>C (p.Ser884Thr) rs139035999 0.00026
NM_001999.4(FBN2):c.5353+16G>A rs187448568 0.00026
NM_001999.4(FBN2):c.8364+18dup rs752497923 0.00026
NM_003036.4(SKI):c.1302G>A (p.Pro434=) rs111459205 0.00026
NM_003036.4(SKI):c.1384C>G (p.Pro462Ala) rs199797772 0.00026
NM_000138.5(FBN1):c.7338C>T (p.Asn2446=) rs140178192 0.00025
NM_001032283.3(TMPO):c.565+1748T>A rs138388686 0.00025
NM_000138.5(FBN1):c.2678-12T>C rs200368037 0.00024
NM_000138.5(FBN1):c.8445C>T (p.Leu2815=) rs142304692 0.00024
NM_001999.4(FBN2):c.297T>C (p.Pro99=) rs79375977 0.00024
NM_003036.4(SKI):c.1321C>T (p.Arg441Trp) rs201613746 0.00024
NM_000138.5(FBN1):c.6314-15G>A rs200841830 0.00023
NM_001999.4(FBN2):c.5430T>C (p.Asp1810=) rs750681115 0.00023
NM_003036.4(SKI):c.1474+15C>T rs369979606 0.00023
NM_003036.4(SKI):c.2183C>T (p.Pro728Leu) rs372950890 0.00023
NM_003239.5(TGFB3):c.193G>A (p.Val65Ile) rs201059075 0.00023
NM_003239.5(TGFB3):c.647-12C>G rs61762490 0.00023
NM_001032283.3(TMPO):c.252G>T (p.Ala84=) rs727504659 0.00022
NM_001999.4(FBN2):c.5670T>C (p.Cys1890=) rs74811638 0.00022
NM_001999.4(FBN2):c.5917+9T>G rs371439173 0.00022
NM_001999.4(FBN2):c.6840G>T (p.Pro2280=) rs377742525 0.00022
NM_001999.4(FBN2):c.7013-7T>A rs191729449 0.00022
NM_000138.5(FBN1):c.1027G>A (p.Gly343Arg) rs146726731 0.00021
NM_001999.4(FBN2):c.3394G>A (p.Val1132Ile) rs138834515 0.00021
NM_001999.4(FBN2):c.5004C>T (p.Asn1668=) rs140012679 0.00021
NM_001999.4(FBN2):c.8282C>T (p.Ala2761Val) rs201962592 0.00021
NM_001999.4(FBN2):c.8049G>A (p.Gly2683=) rs138044126 0.00020
NM_001999.4(FBN2):c.8595C>T (p.Pro2865=) rs137914321 0.00020
NM_000138.5(FBN1):c.6705A>C (p.Gly2235=) rs2229326 0.00019
NM_000138.5(FBN1):c.7852G>A (p.Gly2618Arg) rs141133182 0.00019
NM_000138.5(FBN1):c.79G>A (p.Ala27Thr) rs25397 0.00019
NM_001999.4(FBN2):c.27C>G (p.Leu9=) rs369714882 0.00019
NM_001999.4(FBN2):c.3322A>C (p.Met1108Leu) rs148127874 0.00019
NM_003036.4(SKI):c.2174A>C (p.Glu725Ala) rs747798210 0.00019
NM_000138.5(FBN1):c.228C>T (p.Gly76=) rs141651917 0.00018
NM_000138.5(FBN1):c.3590-8T>C rs140600 0.00018
NM_000138.5(FBN1):c.4727T>C (p.Met1576Thr) rs776625874 0.00018
NM_000138.5(FBN1):c.76G>C (p.Asp26His) rs146267697 0.00018
NM_000138.5(FBN1):c.902G>T (p.Gly301Val) rs142888621 0.00018
NM_001999.4(FBN2):c.6253C>G (p.Pro2085Ala) rs34845843 0.00018
NM_003239.5(TGFB3):c.412T>G (p.Ser138Ala) rs201453600 0.00018
NM_000138.5(FBN1):c.3514G>A (p.Val1172Met) rs200125037 0.00017
NM_000138.5(FBN1):c.6342A>C (p.Gly2114=) rs374705586 0.00017
NM_001032283.3(TMPO):c.565+1186T>A rs146364154 0.00017
NM_001999.4(FBN2):c.1466-4G>A rs371636769 0.00017
NM_001999.4(FBN2):c.7700C>T (p.Thr2567Ile) rs150672907 0.00017
NM_000138.5(FBN1):c.3454G>A (p.Ala1152Thr) rs140890215 0.00016
NM_000138.5(FBN1):c.59A>G (p.Tyr20Cys) rs201309310 0.00016
NM_000138.5(FBN1):c.6380-3A>G rs567703513 0.00016
NM_000138.5(FBN1):c.8027C>T (p.Pro2676Leu) rs146469379 0.00016
NM_001032283.3(TMPO):c.534T>C (p.Asn178=) rs200016687 0.00016
NM_001032283.3(TMPO):c.565+1298G>A rs370939324 0.00016
NM_001999.4(FBN2):c.3235G>T (p.Ala1079Ser) rs774996980 0.00016
NM_001999.4(FBN2):c.3862G>A (p.Glu1288Lys) rs371512923 0.00016
NM_003036.4(SKI):c.1095+18G>A rs748998967 0.00016
NM_003036.4(SKI):c.1440G>A (p.Ser480=) rs185754530 0.00016
NM_003036.4(SKI):c.42C>T (p.His14=) rs543603037 0.00016
NM_003036.4(SKI):c.799C>T (p.Leu267=) rs140178396 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_000138.5(FBN1):c.863-3C>T rs955955089 0.00015
NM_001032283.3(TMPO):c.565+2376C>T rs202035749 0.00015
NM_001999.4(FBN2):c.5602A>T (p.Ile1868Phe) rs150931558 0.00015
NM_001999.4(FBN2):c.7569G>A (p.Leu2523=) rs375141964 0.00015
NM_003238.6(TGFB2):c.199G>A (p.Val67Met) rs201761868 0.00015
NM_000138.5(FBN1):c.1571C>T (p.Thr524Met) rs370575495 0.00014
NM_000138.5(FBN1):c.3936C>T (p.Ser1312=) rs779913610 0.00014
NM_000138.5(FBN1):c.3964+19A>G rs181287036 0.00014
NM_000138.5(FBN1):c.4001G>A (p.Gly1334Asp) rs191989961 0.00014
NM_000138.5(FBN1):c.5917+3A>G rs202158568 0.00014
NM_000138.5(FBN1):c.6288C>T (p.Cys2096=) rs144822241 0.00014
NM_000138.5(FBN1):c.736+9G>A rs368241741 0.00014
NM_000138.5(FBN1):c.7455T>G (p.Asp2485Glu) rs377272529 0.00014
NM_000138.5(FBN1):c.7661G>A (p.Arg2554Gln) rs199522781 0.00014
NM_001032283.3(TMPO):c.565+1469A>G rs147812883 0.00014
NM_001999.4(FBN2):c.2536G>A (p.Glu846Lys) rs375666281 0.00014
NM_001999.4(FBN2):c.2801G>A (p.Arg934Gln) rs376194507 0.00014
NM_001999.4(FBN2):c.3341C>T (p.Thr1114Met) rs202219940 0.00014
NM_001999.4(FBN2):c.4642G>A (p.Val1548Ile) rs140313460 0.00014
NM_001999.4(FBN2):c.6064G>A (p.Ala2022Thr) rs545524318 0.00014
NM_001999.4(FBN2):c.68C>G (p.Ala23Gly) rs199560824 0.00014
NM_001999.4(FBN2):c.7841-17C>T rs371643668 0.00014
NM_003238.6(TGFB2):c.347-14C>G rs371982231 0.00014
NM_000138.5(FBN1):c.4748-12T>A rs368723745 0.00013
NM_000138.5(FBN1):c.6054C>T (p.Val2018=) rs542953863 0.00013
NM_000138.5(FBN1):c.8232G>A (p.Gln2744=) rs376119827 0.00013
NM_001032283.3(TMPO):c.565+2182T>C rs571417296 0.00013
NM_001999.4(FBN2):c.2252A>C (p.Glu751Ala) rs147610681 0.00013
NM_001999.4(FBN2):c.4902C>T (p.Pro1634=) rs201071253 0.00013
NM_001999.4(FBN2):c.76A>G (p.Thr26Ala) rs374922166 0.00013
NM_003036.4(SKI):c.1254C>T (p.Asn418=) rs536126761 0.00013
NM_003036.4(SKI):c.640A>G (p.Ser214Gly) rs139179843 0.00013
NM_003239.5(TGFB3):c.1169A>T (p.Tyr390Phe) rs996297395 0.00013
NM_003239.5(TGFB3):c.88T>C (p.Leu30=) rs3917145 0.00013
NM_000138.5(FBN1):c.185G>A (p.Arg62His) rs145942328 0.00012
NM_000138.5(FBN1):c.3798T>C (p.Tyr1266=) rs112987543 0.00012
NM_000138.5(FBN1):c.6576C>T (p.Cys2192=) rs369058466 0.00012
NM_001032283.3(TMPO):c.280-9T>C rs756782828 0.00012
NM_001999.4(FBN2):c.2469C>T (p.Asn823=) rs770997817 0.00012
NM_001999.4(FBN2):c.2625T>C (p.Cys875=) rs371502563 0.00012
NM_001999.4(FBN2):c.2990-14C>T rs377500777 0.00012
NM_001999.4(FBN2):c.6077C>T (p.Ser2026Phe) rs139668142 0.00012
NM_001999.4(FBN2):c.6334A>G (p.Lys2112Glu) rs141707850 0.00012
NM_001999.4(FBN2):c.6964A>G (p.Ile2322Val) rs756500246 0.00012
NM_001999.4(FBN2):c.7594+12G>A rs184678810 0.00012
NM_001999.4(FBN2):c.8192+8G>A rs184132548 0.00012
NM_003036.4(SKI):c.1315G>A (p.Val439Ile) rs575093513 0.00012
NM_003238.6(TGFB2):c.648G>A (p.Arg216=) rs767503001 0.00012
NM_000138.5(FBN1):c.1323A>G (p.Pro441=) rs202030761 0.00011
NM_000138.5(FBN1):c.1821T>C (p.Asp607=) rs149133920 0.00011
NM_000138.5(FBN1):c.1838-6C>T rs374629233 0.00011
NM_000138.5(FBN1):c.2289C>T (p.Cys763=) rs181311020 0.00011
NM_000138.5(FBN1):c.3964+12C>T rs371986991 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_001032283.3(TMPO):c.565+1641A>G rs143232629 0.00011
NM_001999.4(FBN2):c.1651A>G (p.Asn551Asp) rs138389072 0.00011
NM_001999.4(FBN2):c.1850-14A>G rs201359451 0.00011
NM_001999.4(FBN2):c.2108G>A (p.Arg703His) rs567790419 0.00011
NM_001999.4(FBN2):c.2989+20G>A rs374450061 0.00011
NM_001999.4(FBN2):c.4311C>T (p.Ser1437=) rs138665246 0.00011
NM_001999.4(FBN2):c.6285A>G (p.Arg2095=) rs28763933 0.00011
NM_001999.4(FBN2):c.7180A>G (p.Ile2394Val) rs141854054 0.00011
NM_001999.4(FBN2):c.7942C>A (p.Gln2648Lys) rs375316758 0.00011
NM_003036.4(SKI):c.105G>A (p.Pro35=) rs778180778 0.00011
NM_003036.4(SKI):c.1309G>A (p.Ala437Thr) rs544709718 0.00011
NM_003036.4(SKI):c.1329C>T (p.Pro443=) rs150033567 0.00011
NM_003036.4(SKI):c.1632C>T (p.His544=) rs373914574 0.00011
NM_003036.4(SKI):c.970-5C>T rs755318392 0.00011
NM_003238.6(TGFB2):c.297C>T (p.Tyr99=) rs760759052 0.00011
NM_003239.5(TGFB3):c.757G>A (p.Val253Met) rs532517095 0.00011
NM_000138.5(FBN1):c.2094G>T (p.Pro698=) rs144775475 0.00010
NM_000138.5(FBN1):c.2892C>T (p.Asp964=) rs116945525 0.00010
NM_000138.5(FBN1):c.3082+9T>A rs746303949 0.00010
NM_001999.4(FBN2):c.157G>A (p.Gly53Ser) rs146807421 0.00010
NM_001999.4(FBN2):c.158G>A (p.Gly53Asp) rs375093230 0.00010
NM_001999.4(FBN2):c.2249-15C>A rs759195113 0.00010
NM_001999.4(FBN2):c.2717G>A (p.Arg906His) rs370973542 0.00010
NM_001999.4(FBN2):c.2856G>T (p.Thr952=) rs556038110 0.00010
NM_001999.4(FBN2):c.3217+13G>A rs572013507 0.00010
NM_001999.4(FBN2):c.3472+17C>A rs747730357 0.00010
NM_001999.4(FBN2):c.5983G>A (p.Gly1995Ser) rs145588052 0.00010
NM_001999.4(FBN2):c.6681A>G (p.Thr2227=) rs145681607 0.00010
NM_001999.4(FBN2):c.6833C>T (p.Thr2278Met) rs2307109 0.00010
NM_001999.4(FBN2):c.8193-6A>G rs371741283 0.00010
NM_001999.4(FBN2):c.8674G>T (p.Asp2892Tyr) rs557212203 0.00010
NM_001999.4(FBN2):c.8691G>A (p.Gly2897=) rs184109554 0.00010
NM_003036.4(SKI):c.2141G>A (p.Arg714His) rs754486257 0.00010
NM_003239.5(TGFB3):c.873G>A (p.Pro291=) rs370006165 0.00010
NM_000138.5(FBN1):c.1345G>A (p.Val449Ile) rs139058991 0.00009
NM_000138.5(FBN1):c.1588+20C>T rs376488308 0.00009
NM_000138.5(FBN1):c.2232G>C (p.Gly744=) rs762745991 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.4342G>A (p.Asp1448Asn) rs371377334 0.00009
NM_000138.5(FBN1):c.5225-13T>G rs367786211 0.00009
NM_000138.5(FBN1):c.5296+12C>T rs566030960 0.00009
NM_000138.5(FBN1):c.7266A>G (p.Arg2422=) rs532737688 0.00009
NM_000138.5(FBN1):c.7660C>T (p.Arg2554Trp) rs369294972 0.00009
NM_000138.5(FBN1):c.7846A>G (p.Ile2616Val) rs143677764 0.00009
NM_000138.5(FBN1):c.8141C>T (p.Ala2714Val) rs772795413 0.00009
NM_000138.5(FBN1):c.942A>G (p.Lys314=) rs376965275 0.00009
NM_001032283.3(TMPO):c.164C>T (p.Ala55Val) rs756232510 0.00009
NM_001032283.3(TMPO):c.565+1531C>T rs199943517 0.00009
NM_001999.4(FBN2):c.3013T>C (p.Leu1005=) rs147633551 0.00009
NM_001999.4(FBN2):c.3296G>A (p.Arg1099His) rs202050092 0.00009
NM_001999.4(FBN2):c.3655A>G (p.Met1219Val) rs201288931 0.00009
NM_001999.4(FBN2):c.3742A>G (p.Ile1248Val) rs144933639 0.00009
NM_001999.4(FBN2):c.4763A>T (p.Asp1588Val) rs202218356 0.00009
NM_001999.4(FBN2):c.5275A>C (p.Lys1759Gln) rs201113098 0.00009
NM_001999.4(FBN2):c.5549-18G>A rs371995872 0.00009
NM_001999.4(FBN2):c.7497G>A (p.Pro2499=) rs756747736 0.00009
NM_001999.4(FBN2):c.8239C>G (p.Leu2747Val) rs145353444 0.00009
NM_001999.4(FBN2):c.8289C>T (p.Tyr2763=) rs190292877 0.00009
NM_001999.4(FBN2):c.8376C>G (p.Ile2792Met) rs142747169 0.00009
NM_003036.4(SKI):c.1164G>A (p.Ala388=) rs780171614 0.00009
NM_003036.4(SKI):c.1269G>A (p.Pro423=) rs375600617 0.00009
NM_003036.4(SKI):c.1568C>T (p.Ser523Leu) rs730880212 0.00009
NM_003036.4(SKI):c.897C>T (p.Arg299=) rs773901705 0.00009
NM_003239.5(TGFB3):c.558C>T (p.Ile186=) rs138389291 0.00009
NM_003239.5(TGFB3):c.813G>C (p.Lys271Asn) rs147601018 0.00009
NM_000138.5(FBN1):c.2079G>A (p.Gly693=) rs374174497 0.00008
NM_000138.5(FBN1):c.2294-14C>G rs201446948 0.00008
NM_000138.5(FBN1):c.2928C>T (p.Arg976=) rs761997019 0.00008
NM_000138.5(FBN1):c.3171C>T (p.Ser1057=) rs144400069 0.00008
NM_000138.5(FBN1):c.3226A>C (p.Ile1076Leu) rs201156527 0.00008
NM_000138.5(FBN1):c.3429C>A (p.Gly1143=) rs151232024 0.00008
NM_000138.5(FBN1):c.5297-19A>G rs375665466 0.00008
NM_000138.5(FBN1):c.6038-15_6038-14del rs752198920 0.00008
NM_000138.5(FBN1):c.7379A>G (p.Lys2460Arg) rs144189837 0.00008
NM_001032283.3(TMPO):c.565+1617A>G rs771185259 0.00008
NM_001032283.3(TMPO):c.565+2387G>A rs201034441 0.00008
NM_001999.4(FBN2):c.3518C>G (p.Thr1173Ser) rs199678757 0.00008
NM_001999.4(FBN2):c.5637C>T (p.Ala1879=) rs367620361 0.00008
NM_001999.4(FBN2):c.6597A>G (p.Pro2199=) rs150305429 0.00008
NM_001999.4(FBN2):c.7212C>T (p.Leu2404=) rs368506842 0.00008
NM_001999.4(FBN2):c.8124C>T (p.Tyr2708=) rs201634501 0.00008
NM_003036.4(SKI):c.1109T>C (p.Val370Ala) rs138088528 0.00008
NM_003036.4(SKI):c.170C>T (p.Ala57Val) rs1389185868 0.00008
NM_003036.4(SKI):c.242C>A (p.Pro81Gln) rs542659326 0.00008
NM_003238.6(TGFB2):c.556G>A (p.Asp186Asn) rs766536496 0.00008
NM_003239.5(TGFB3):c.101A>G (p.His34Arg) rs199791687 0.00008
NM_003239.5(TGFB3):c.97G>A (p.Gly33Ser) rs781353815 0.00008
NM_000138.5(FBN1):c.1327+12A>G rs764788168 0.00007
NM_000138.5(FBN1):c.1363T>C (p.Leu455=) rs557954342 0.00007
NM_000138.5(FBN1):c.2678-3C>T rs747274959 0.00007
NM_000138.5(FBN1):c.2746G>A (p.Val916Met) rs373644734 0.00007
NM_000138.5(FBN1):c.2772C>T (p.Gly924=) rs539699143 0.00007
NM_000138.5(FBN1):c.4582+3A>G rs777845323 0.00007
NM_000138.5(FBN1):c.5963C>T (p.Thr1988Ile) rs142912485 0.00007
NM_000138.5(FBN1):c.6372A>G (p.Ser2124=) rs397515832 0.00007
NM_000138.5(FBN1):c.6942C>T (p.Tyr2314=) rs372967546 0.00007
NM_001032283.3(TMPO):c.565+1472G>A rs375628010 0.00007
NM_001032283.3(TMPO):c.565+2102C>G rs764177808 0.00007
NM_001999.4(FBN2):c.2096-19G>A rs369377429 0.00007
NM_001999.4(FBN2):c.2198C>G (p.Pro733Arg) rs745528502 0.00007
NM_001999.4(FBN2):c.2480G>A (p.Arg827Gln) rs150735582 0.00007
NM_001999.4(FBN2):c.3839C>T (p.Ser1280Leu) rs200481467 0.00007
NM_001999.4(FBN2):c.3964A>G (p.Thr1322Ala) rs367614052 0.00007
NM_001999.4(FBN2):c.4035G>A (p.Lys1345=) rs772465221 0.00007
NM_001999.4(FBN2):c.4298G>A (p.Arg1433His) rs143462011 0.00007
NM_001999.4(FBN2):c.5447C>T (p.Pro1816Leu) rs149537608 0.00007
NM_001999.4(FBN2):c.5495G>A (p.Arg1832His) rs140276399 0.00007
NM_001999.4(FBN2):c.6063C>T (p.Val2021=) rs149380208 0.00007
NM_001999.4(FBN2):c.6512-7A>G rs201462445 0.00007
NM_001999.4(FBN2):c.8085C>T (p.Asp2695=) rs765452930 0.00007
NM_001999.4(FBN2):c.8351C>T (p.Pro2784Leu) rs144574441 0.00007
NM_001999.4(FBN2):c.8530G>A (p.Val2844Ile) rs147134796 0.00007
NM_003238.6(TGFB2):c.217A>G (p.Ser73Gly) rs753391734 0.00007
NM_000138.5(FBN1):c.124G>C (p.Ala42Pro) rs377722423 0.00006
NM_000138.5(FBN1):c.1316G>A (p.Arg439Gln) rs568810058 0.00006
NM_000138.5(FBN1):c.1961-14T>C rs373918202 0.00006
NM_000138.5(FBN1):c.2434G>A (p.Glu812Lys) rs201778577 0.00006
NM_000138.5(FBN1):c.273T>C (p.Asp91=) rs375450755 0.00006
NM_000138.5(FBN1):c.2793G>T (p.Gly931=) rs775785545 0.00006
NM_000138.5(FBN1):c.2835C>T (p.Ala945=) rs140389544 0.00006
NM_000138.5(FBN1):c.2901C>T (p.Cys967=) rs755610084 0.00006
NM_000138.5(FBN1):c.2921G>A (p.Arg974His) rs763094223 0.00006
NM_000138.5(FBN1):c.3013G>A (p.Glu1005Lys) rs564713154 0.00006
NM_000138.5(FBN1):c.3082+13G>A rs757559866 0.00006
NM_000138.5(FBN1):c.3197G>C (p.Arg1066Thr) rs376659156 0.00006
NM_000138.5(FBN1):c.3464-6C>T rs375596551 0.00006
NM_000138.5(FBN1):c.4150A>G (p.Met1384Val) rs775543440 0.00006
NM_000138.5(FBN1):c.4211-10C>T rs28730793 0.00006
NM_000138.5(FBN1):c.4337-14T>C rs78068079 0.00006
NM_000138.5(FBN1):c.4875C>G (p.Thr1625=) rs140628 0.00006
NM_000138.5(FBN1):c.4986A>G (p.Thr1662=) rs753705796 0.00006
NM_000138.5(FBN1):c.4998C>G (p.Thr1666=) rs141925790 0.00006
NM_000138.5(FBN1):c.5066-13dup rs774517414 0.00006
NM_000138.5(FBN1):c.5097C>T (p.Tyr1699=) rs368979510 0.00006
NM_000138.5(FBN1):c.5516A>T (p.Tyr1839Phe) rs758725993 0.00006
NM_000138.5(FBN1):c.5573A>G (p.Asn1858Ser) rs751472490 0.00006
NM_000138.5(FBN1):c.5672-15C>G rs776163620 0.00006
NM_000138.5(FBN1):c.6164-3C>T rs571365493 0.00006
NM_000138.5(FBN1):c.6302C>T (p.Thr2101Met) rs200816828 0.00006
NM_000138.5(FBN1):c.6577G>A (p.Glu2193Lys) rs201361628 0.00006
NM_000138.5(FBN1):c.6834C>T (p.Pro2278=) rs397515839 0.00006
NM_000138.5(FBN1):c.7099G>A (p.Gly2367Arg) rs368978109 0.00006
NM_000138.5(FBN1):c.7204+7C>G rs371763964 0.00006
NM_000138.5(FBN1):c.7412C>G (p.Pro2471Arg) rs193922233 0.00006
NM_000138.5(FBN1):c.7516G>A (p.Gly2506Ser) rs756295016 0.00006
NM_000138.5(FBN1):c.7902C>T (p.Pro2634=) rs138621371 0.00006
NM_000138.5(FBN1):c.7999G>A (p.Glu2667Lys) rs149062442 0.00006
NM_000138.5(FBN1):c.8071G>A (p.Gly2691Ser) rs145105768 0.00006
NM_000138.5(FBN1):c.8300A>G (p.Asn2767Ser) rs536503540 0.00006
NM_000138.5(FBN1):c.8310C>T (p.His2770=) rs112189340 0.00006
NM_000138.5(FBN1):c.8311G>A (p.Val2771Ile) rs193922244 0.00006
NM_000138.5(FBN1):c.988+20G>A rs375760654 0.00006
NM_001032283.3(TMPO):c.249C>T (p.Ala83=) rs747943302 0.00006
NM_001032283.3(TMPO):c.565+1213G>A rs368211058 0.00006
NM_001032283.3(TMPO):c.565+1317C>T rs376074187 0.00006
NM_001032283.3(TMPO):c.565+1328G>T rs369208265 0.00006
NM_001032283.3(TMPO):c.565+1709T>C rs374855899 0.00006
NM_001032283.3(TMPO):c.565+2196A>G rs369840957 0.00006
NM_001032283.3(TMPO):c.565+2361G>T rs746160070 0.00006
NM_001999.4(FBN2):c.1181G>A (p.Arg394His) rs150790914 0.00006
NM_001999.4(FBN2):c.1411G>A (p.Val471Ile) rs138046782 0.00006
NM_001999.4(FBN2):c.1644T>G (p.Asp548Glu) rs182651973 0.00006
NM_001999.4(FBN2):c.1666T>C (p.Tyr556His) rs1256710897 0.00006
NM_001999.4(FBN2):c.1682A>G (p.His561Arg) rs28763951 0.00006
NM_001999.4(FBN2):c.2508G>A (p.Thr836=) rs372872626 0.00006
NM_001999.4(FBN2):c.2978G>A (p.Arg993His) rs774483323 0.00006
NM_001999.4(FBN2):c.3045C>T (p.Pro1015=) rs371640952 0.00006
NM_001999.4(FBN2):c.3405G>A (p.Pro1135=) rs185809581 0.00006
NM_001999.4(FBN2):c.3883G>A (p.Asp1295Asn) rs759131544 0.00006
NM_001999.4(FBN2):c.3908C>T (p.Pro1303Leu) rs144505094 0.00006
NM_001999.4(FBN2):c.4757G>C (p.Arg1586Pro) rs143195229 0.00006
NM_001999.4(FBN2):c.4951A>G (p.Ile1651Val) rs765442038 0.00006
NM_001999.4(FBN2):c.5422+6T>G rs1000499022 0.00006
NM_001999.4(FBN2):c.5423-8C>A rs1195073601 0.00006
NM_001999.4(FBN2):c.5800+5G>A rs375487064 0.00006
NM_001999.4(FBN2):c.5853C>T (p.Thr1951=) rs377133710 0.00006
NM_001999.4(FBN2):c.5855T>C (p.Val1952Ala) rs372879535 0.00006
NM_001999.4(FBN2):c.6433A>G (p.Lys2145Glu) rs766271753 0.00006
NM_001999.4(FBN2):c.6573C>T (p.Asp2191=) rs374456115 0.00006
NM_001999.4(FBN2):c.6982G>T (p.Ala2328Ser) rs199910288 0.00006
NM_001999.4(FBN2):c.7583A>G (p.Lys2528Arg) rs749623269 0.00006
NM_001999.4(FBN2):c.7690C>G (p.Gln2564Glu) rs373970388 0.00006
NM_001999.4(FBN2):c.7808T>C (p.Phe2603Ser) rs374507398 0.00006
NM_001999.4(FBN2):c.803A>G (p.Asn268Ser) rs760817242 0.00006
NM_001999.4(FBN2):c.8058C>A (p.Phe2686Leu) rs150734807 0.00006
NM_001999.4(FBN2):c.8086G>A (p.Val2696Met) rs373994051 0.00006
NM_001999.4(FBN2):c.8520C>T (p.Asn2840=) rs139098335 0.00006
NM_003036.4(SKI):c.1162G>A (p.Ala388Thr) rs376736872 0.00006
NM_003036.4(SKI):c.1182C>T (p.Ser394=) rs542616415 0.00006
NM_003036.4(SKI):c.1211+10C>T rs200242660 0.00006
NM_003036.4(SKI):c.1271C>T (p.Pro424Leu) rs764317955 0.00006
NM_003036.4(SKI):c.1710C>T (p.Arg570=) rs766067033 0.00006
NM_003036.4(SKI):c.1923G>A (p.Leu641=) rs199666240 0.00006
NM_003036.4(SKI):c.2056G>A (p.Ala686Thr) rs756553942 0.00006
NM_003036.4(SKI):c.247C>T (p.Pro83Ser) rs201590284 0.00006
NM_003036.4(SKI):c.360C>T (p.Arg120=) rs375024753 0.00006
NM_003036.4(SKI):c.567G>C (p.Leu189=) rs752411031 0.00006
NM_003238.6(TGFB2):c.1140C>T (p.Cys380=) rs201129153 0.00006
NM_003238.6(TGFB2):c.11G>A (p.Cys4Tyr) rs776628524 0.00006
NM_003238.6(TGFB2):c.194C>T (p.Pro65Leu) rs750324465 0.00006
NM_003238.6(TGFB2):c.644-4C>T rs11466408 0.00006
NM_003239.5(TGFB3):c.235C>G (p.Leu79Val) rs371230847 0.00006
NM_003239.5(TGFB3):c.504C>T (p.Ile168=) rs148029842 0.00006
NM_003239.5(TGFB3):c.517-6C>G rs45586636 0.00006
NM_003239.5(TGFB3):c.96C>T (p.Phe32=) rs748977151 0.00006
NM_000138.5(FBN1):c.1147+7G>A rs373156788 0.00005
NM_000138.5(FBN1):c.1272A>G (p.Gln424=) rs763710172 0.00005
NM_000138.5(FBN1):c.155C>T (p.Ala52Val) rs1258637670 0.00005
NM_000138.5(FBN1):c.2445T>G (p.Pro815=) rs368004231 0.00005
NM_000138.5(FBN1):c.247+10T>C rs367618012 0.00005
NM_000138.5(FBN1):c.2927G>A (p.Arg976His) rs140954477 0.00005
NM_000138.5(FBN1):c.346+16C>T rs369090026 0.00005
NM_000138.5(FBN1):c.4162C>T (p.Arg1388Cys) rs770860280 0.00005
NM_000138.5(FBN1):c.4316C>G (p.Ala1439Gly) rs755085498 0.00005
NM_000138.5(FBN1):c.4321G>A (p.Gly1441Arg) rs372118067 0.00005
NM_000138.5(FBN1):c.466A>C (p.Asn156His) rs746352371 0.00005
NM_000138.5(FBN1):c.4746A>G (p.Thr1582=) rs794727601 0.00005
NM_000138.5(FBN1):c.6699C>T (p.Pro2233=) rs372386014 0.00005
NM_000138.5(FBN1):c.6728G>A (p.Arg2243Lys) rs769589759 0.00005
NM_000138.5(FBN1):c.6852T>C (p.Pro2284=) rs201226058 0.00005
NM_000138.5(FBN1):c.7051G>A (p.Gly2351Ser) rs746127796 0.00005
NM_000138.5(FBN1):c.7743C>T (p.Cys2581=) rs765772116 0.00005
NM_000138.5(FBN1):c.7964C>T (p.Ala2655Val) rs202240409 0.00005
NM_000138.5(FBN1):c.7965G>A (p.Ala2655=) rs199887650 0.00005
NM_000138.5(FBN1):c.8149G>A (p.Glu2717Lys) rs187553035 0.00005
NM_000138.5(FBN1):c.83A>G (p.Asn28Ser) rs193922245 0.00005
NM_001032283.3(TMPO):c.13C>T (p.Leu5=) rs149067616 0.00005
NM_001032283.3(TMPO):c.565+1107C>T rs750751621 0.00005
NM_001032283.3(TMPO):c.565+1413A>G rs57670957 0.00005
NM_001032283.3(TMPO):c.565+1824C>G rs373861992 0.00005
NM_001999.4(FBN2):c.1078+9C>T rs371692018 0.00005
NM_001999.4(FBN2):c.1139C>T (p.Pro380Leu) rs139189178 0.00005
NM_001999.4(FBN2):c.1720A>G (p.Ile574Val) rs768073096 0.00005
NM_001999.4(FBN2):c.1885A>G (p.Asn629Asp) rs863223554 0.00005
NM_001999.4(FBN2):c.3149C>T (p.Thr1050Met) rs150506063 0.00005
NM_001999.4(FBN2):c.3249G>T (p.Met1083Ile) rs146143173 0.00005
NM_001999.4(FBN2):c.3414T>C (p.Phe1138=) rs769005512 0.00005
NM_001999.4(FBN2):c.3584G>A (p.Arg1195His) rs751600209 0.00005
NM_001999.4(FBN2):c.3690A>G (p.Gly1230=) rs774807410 0.00005
NM_001999.4(FBN2):c.4102G>A (p.Val1368Met) rs762139261 0.00005
NM_001999.4(FBN2):c.4328A>T (p.Asp1443Val) rs751400994 0.00005
NM_001999.4(FBN2):c.4773G>T (p.Leu1591=) rs753387547 0.00005
NM_001999.4(FBN2):c.5494C>T (p.Arg1832Cys) rs778519094 0.00005
NM_001999.4(FBN2):c.5674+18T>G rs199749609 0.00005
NM_001999.4(FBN2):c.6138G>T (p.Gly2046=) rs150627604 0.00005
NM_001999.4(FBN2):c.6297T>C (p.Thr2099=) rs770778839 0.00005
NM_003036.4(SKI):c.1096-5G>A rs566936949 0.00005
NM_003036.4(SKI):c.1212-15C>T rs200904079 0.00005
NM_003036.4(SKI):c.1212-8C>T rs370921440 0.00005
NM_003036.4(SKI):c.1242C>T (p.Ala414=) rs757550300 0.00005
NM_003036.4(SKI):c.1263C>T (p.Leu421=) rs773045410 0.00005
NM_003036.4(SKI):c.1636C>T (p.Arg546Trp) rs774648274 0.00005
NM_003036.4(SKI):c.450C>T (p.Cys150=) rs538703800 0.00005
NM_003036.4(SKI):c.994A>G (p.Ile332Val) rs374264201 0.00005
NM_003238.6(TGFB2):c.1008C>T (p.His336=) rs886038528 0.00005
NM_003238.6(TGFB2):c.386T>C (p.Ile129Thr) rs752823052 0.00005
NM_003239.5(TGFB3):c.1081-14A>G rs201379167 0.00005
NM_003239.5(TGFB3):c.559G>A (p.Gly187Ser) rs201063101 0.00005
NM_000138.5(FBN1):c.1087G>A (p.Gly363Ser) rs363855 0.00004
NM_000138.5(FBN1):c.1116C>T (p.Val372=) rs774193938 0.00004
NM_000138.5(FBN1):c.1242T>G (p.Pro414=) rs371929738 0.00004
NM_000138.5(FBN1):c.1290A>G (p.Pro430=) rs749526018 0.00004
NM_000138.5(FBN1):c.1602T>C (p.Cys534=) rs377386372 0.00004
NM_000138.5(FBN1):c.1837+4C>T rs199950267 0.00004
NM_000138.5(FBN1):c.1880G>A (p.Arg627His) rs746073643 0.00004
NM_000138.5(FBN1):c.1884C>T (p.Cys628=) rs150421653 0.00004
NM_000138.5(FBN1):c.1885G>A (p.Val629Ile) rs140503215 0.00004
NM_000138.5(FBN1):c.1951G>A (p.Val651Met) rs1335043561 0.00004
NM_000138.5(FBN1):c.2075T>A (p.Phe692Tyr) rs955639059 0.00004
NM_000138.5(FBN1):c.2168-19G>T rs777612162 0.00004
NM_000138.5(FBN1):c.2168-6G>A rs200924505 0.00004
NM_000138.5(FBN1):c.2290G>A (p.Val764Ile) rs769641351 0.00004
NM_000138.5(FBN1):c.2419+13T>A rs372885314 0.00004
NM_000138.5(FBN1):c.2596A>G (p.Ile866Val) rs794728329 0.00004
NM_000138.5(FBN1):c.2600A>G (p.Asn867Ser) rs145464311 0.00004
NM_000138.5(FBN1):c.2637C>T (p.Leu879=) rs202163602 0.00004
NM_000138.5(FBN1):c.2753C>G (p.Pro918Arg) rs557798071 0.00004
NM_000138.5(FBN1):c.3145G>A (p.Gly1049Ser) rs778181932 0.00004
NM_000138.5(FBN1):c.3246C>T (p.Gly1082=) rs138855754 0.00004
NM_000138.5(FBN1):c.3295G>A (p.Glu1099Lys) rs763485521 0.00004
NM_000138.5(FBN1):c.3415G>C (p.Glu1139Gln) rs780972853 0.00004
NM_000138.5(FBN1):c.3462C>T (p.Ile1154=) rs144339604 0.00004
NM_000138.5(FBN1):c.347-15T>C rs749417882 0.00004
NM_000138.5(FBN1):c.3503A>G (p.Asn1168Ser) rs776667707 0.00004
NM_000138.5(FBN1):c.350A>G (p.Gln117Arg) rs777826174 0.00004
NM_000138.5(FBN1):c.3837A>G (p.Val1279=) rs59007872 0.00004
NM_000138.5(FBN1):c.3838+20T>C rs772287702 0.00004
NM_000138.5(FBN1):c.3896C>T (p.Thr1299Met) rs774851476 0.00004
NM_000138.5(FBN1):c.405A>G (p.Leu135=) rs187254268 0.00004
NM_000138.5(FBN1):c.4095C>T (p.Asp1365=) rs375402043 0.00004
NM_000138.5(FBN1):c.4163G>A (p.Arg1388His) rs749196340 0.00004
NM_000138.5(FBN1):c.4176G>A (p.Lys1392=) rs141633998 0.00004
NM_000138.5(FBN1):c.4336+7G>T rs760603409 0.00004
NM_000138.5(FBN1):c.4337-9C>T rs201001403 0.00004
NM_000138.5(FBN1):c.4371C>T (p.Val1457=) rs781641370 0.00004
NM_000138.5(FBN1):c.4804G>A (p.Val1602Ile) rs780957696 0.00004
NM_000138.5(FBN1):c.492T>C (p.Asn164=) rs778007582 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.5717G>A (p.Arg1906Gln) rs774798866 0.00004
NM_000138.5(FBN1):c.5724A>G (p.Thr1908=) rs141219664 0.00004
NM_000138.5(FBN1):c.5842A>G (p.Ile1948Val) rs766850261 0.00004
NM_000138.5(FBN1):c.5921T>C (p.Ile1974Thr) rs765878996 0.00004
NM_000138.5(FBN1):c.6052G>A (p.Val2018Ile) rs363802 0.00004
NM_000138.5(FBN1):c.6055G>A (p.Glu2019Lys) rs377149130 0.00004
NM_000138.5(FBN1):c.6497-11G>A rs183200505 0.00004
NM_000138.5(FBN1):c.6911A>G (p.Asn2304Ser) rs375939213 0.00004
NM_000138.5(FBN1):c.7210G>A (p.Asp2404Asn) rs530059069 0.00004
NM_000138.5(FBN1):c.7230C>T (p.His2410=) rs193922231 0.00004
NM_000138.5(FBN1):c.7700-13G>C rs775509707 0.00004
NM_000138.5(FBN1):c.7819+15C>T rs772164887 0.00004
NM_000138.5(FBN1):c.8004C>T (p.Gly2668=) rs371285755 0.00004
NM_000138.5(FBN1):c.8179G>A (p.Gly2727Ser) rs758748297 0.00004
NM_000138.5(FBN1):c.8299A>G (p.Asn2767Asp) rs771437236 0.00004
NM_000138.5(FBN1):c.8542A>C (p.Lys2848Gln) rs199846998 0.00004
NM_000138.5(FBN1):c.980G>C (p.Arg327Thr) rs775206410 0.00004
NM_000138.5(FBN1):c.985A>G (p.Ile329Val) rs370955295 0.00004
NM_001032283.3(TMPO):c.128A>G (p.Gln43Arg) rs371427406 0.00004
NM_001032283.3(TMPO):c.270C>G (p.Ala90=) rs538702194 0.00004
NM_001032283.3(TMPO):c.280-8G>A rs943754313 0.00004
NM_001032283.3(TMPO):c.565+1277G>A rs766680788 0.00004
NM_001032283.3(TMPO):c.565+1304T>A rs142500409 0.00004
NM_001032283.3(TMPO):c.565+1310G>C rs779961791 0.00004
NM_001032283.3(TMPO):c.565+1414G>A rs1381728541 0.00004
NM_001032283.3(TMPO):c.565+1421A>G rs772426890 0.00004
NM_001032283.3(TMPO):c.565+1574G>A rs756784841 0.00004
NM_001032283.3(TMPO):c.565+1675A>G rs370366685 0.00004
NM_001032283.3(TMPO):c.565+1958G>T rs143845319 0.00004
NM_001032283.3(TMPO):c.565+2188C>T rs763238672 0.00004
NM_001999.4(FBN2):c.1078+12A>C rs769211487 0.00004
NM_001999.4(FBN2):c.1103C>T (p.Ser368Leu) rs562268545 0.00004
NM_001999.4(FBN2):c.1140G>A (p.Pro380=) rs532059159 0.00004
NM_001999.4(FBN2):c.1195G>A (p.Gly399Arg) rs142228933 0.00004
NM_001999.4(FBN2):c.1313G>A (p.Gly438Glu) rs751545674 0.00004
NM_001999.4(FBN2):c.1400T>C (p.Phe467Ser) rs779849582 0.00004
NM_001999.4(FBN2):c.1968T>C (p.Cys656=) rs750685055 0.00004
NM_001999.4(FBN2):c.202G>T (p.Ala68Ser) rs767317022 0.00004
NM_001999.4(FBN2):c.2358C>T (p.Asn786=) rs371981691 0.00004
NM_001999.4(FBN2):c.2363G>A (p.Arg788His) rs368116715 0.00004
NM_001999.4(FBN2):c.2555-6T>C rs376507178 0.00004
NM_001999.4(FBN2):c.2722G>A (p.Glu908Lys) rs1204772554 0.00004
NM_001999.4(FBN2):c.2812+7G>A rs373320057 0.00004
NM_001999.4(FBN2):c.3342G>A (p.Thr1114=) rs532983875 0.00004
NM_001999.4(FBN2):c.3393C>T (p.Cys1131=) rs760695805 0.00004
NM_001999.4(FBN2):c.3511G>A (p.Gly1171Ser) rs775844150 0.00004
NM_001999.4(FBN2):c.3602T>C (p.Ile1201Thr) rs755127278 0.00004
NM_001999.4(FBN2):c.3701C>T (p.Thr1234Met) rs368105987 0.00004
NM_001999.4(FBN2):c.377G>A (p.Arg126His) rs528614556 0.00004
NM_001999.4(FBN2):c.3793G>A (p.Glu1265Lys) rs776031352 0.00004
NM_001999.4(FBN2):c.3805A>G (p.Ser1269Gly) rs765649978 0.00004
NM_001999.4(FBN2):c.3920G>A (p.Arg1307His) rs139428175 0.00004
NM_001999.4(FBN2):c.4222+10C>A rs376700480 0.00004
NM_001999.4(FBN2):c.4259G>A (p.Ser1420Asn) rs751406554 0.00004
NM_001999.4(FBN2):c.4286C>T (p.Pro1429Leu) rs771467729 0.00004
NM_001999.4(FBN2):c.4297C>T (p.Arg1433Cys) rs374493286 0.00004
NM_001999.4(FBN2):c.4418G>A (p.Arg1473His) rs140812463 0.00004
NM_001999.4(FBN2):c.4724G>A (p.Arg1575His) rs776040052 0.00004
NM_001999.4(FBN2):c.5200+11A>C rs863223545 0.00004
NM_001999.4(FBN2):c.5681A>G (p.Asn1894Ser) rs750837082 0.00004
NM_001999.4(FBN2):c.5847A>G (p.Lys1949=) rs751378266 0.00004
NM_001999.4(FBN2):c.6004A>G (p.Asn2002Asp) rs773305589 0.00004
NM_001999.4(FBN2):c.6073G>A (p.Gly2025Ser) rs772994944 0.00004
NM_001999.4(FBN2):c.6153C>T (p.Ser2051=) rs888075207 0.00004
NM_001999.4(FBN2):c.6293-8T>A rs375682913 0.00004
NM_001999.4(FBN2):c.645G>A (p.Pro215=) rs764473594 0.00004
NM_001999.4(FBN2):c.6539G>A (p.Gly2180Asp) rs537628586 0.00004
NM_001999.4(FBN2):c.6556C>G (p.Gln2186Glu) rs1415043313 0.00004
NM_001999.4(FBN2):c.6628C>T (p.Arg2210Cys) rs200158069 0.00004
NM_001999.4(FBN2):c.704C>T (p.Thr235Met) rs367767903 0.00004
NM_001999.4(FBN2):c.7339G>A (p.Gly2447Arg) rs764998447 0.00004
NM_001999.4(FBN2):c.7719C>T (p.Asn2573=) rs746265117 0.00004
NM_001999.4(FBN2):c.7878C>T (p.His2626=) rs587780943 0.00004
NM_001999.4(FBN2):c.8168C>T (p.Pro2723Leu) rs746473847 0.00004
NM_001999.4(FBN2):c.8193-13T>C rs376023293 0.00004
NM_001999.4(FBN2):c.8193-19C>T rs771472324 0.00004
NM_001999.4(FBN2):c.8230T>G (p.Tyr2744Asp) rs752138290 0.00004
NM_001999.4(FBN2):c.8406C>T (p.Pro2802=) rs764836656 0.00004
NM_001999.4(FBN2):c.8444A>C (p.Lys2815Thr) rs757028268 0.00004
NM_001999.4(FBN2):c.8678A>T (p.Asp2893Val) rs863223615 0.00004
NM_001999.4(FBN2):c.968G>A (p.Ser323Asn) rs747748647 0.00004
NM_003036.4(SKI):c.1041C>T (p.Ser347=) rs140745811 0.00004
NM_003036.4(SKI):c.1042G>A (p.Glu348Lys) rs370217718 0.00004
NM_003036.4(SKI):c.1080C>T (p.Ala360=) rs200557598 0.00004
NM_003036.4(SKI):c.1096-6C>T rs201304370 0.00004
NM_003036.4(SKI):c.1258G>A (p.Ala420Thr) rs771862077 0.00004
NM_003036.4(SKI):c.138C>T (p.Ala46=) rs745527890 0.00004
NM_003036.4(SKI):c.1406C>T (p.Ala469Val) rs746659856 0.00004
NM_003036.4(SKI):c.1456G>A (p.Val486Ile) rs200717031 0.00004
NM_003036.4(SKI):c.1547C>T (p.Pro516Leu) rs781193859 0.00004
NM_003036.4(SKI):c.1619C>T (p.Ala540Val) rs764786977 0.00004
NM_003036.4(SKI):c.1711G>A (p.Val571Met) rs190373826 0.00004
NM_003036.4(SKI):c.1767+12G>A rs772577806 0.00004
NM_003036.4(SKI):c.1906C>T (p.Arg636Cys) rs143354709 0.00004
NM_003036.4(SKI):c.227T>C (p.Leu76Pro) rs753070477 0.00004
NM_003036.4(SKI):c.543C>T (p.Asp181=) rs766957830 0.00004
NM_003036.4(SKI):c.696G>A (p.Leu232=) rs748272908 0.00004
NM_003036.4(SKI):c.726C>T (p.Ala242=) rs139227600 0.00004
NM_003036.4(SKI):c.978T>G (p.Ser326=) rs759010691 0.00004
NM_003238.6(TGFB2):c.1053G>A (p.Pro351=) rs142741166 0.00004
NM_003238.6(TGFB2):c.555C>T (p.Ile185=) rs760740958 0.00004
NM_003238.6(TGFB2):c.603C>T (p.Phe201=) rs377264861 0.00004
NM_003238.6(TGFB2):c.697C>T (p.Pro233Ser) rs753572174 0.00004
NM_003238.6(TGFB2):c.984G>A (p.Arg328=) rs147678881 0.00004
NM_003239.5(TGFB3):c.-30G>A rs770828281 0.00004
NM_003239.5(TGFB3):c.188C>A (p.Thr63Asn) rs757664433 0.00004
NM_003239.5(TGFB3):c.192C>T (p.His64=) rs374423962 0.00004
NM_003239.5(TGFB3):c.213C>T (p.Ala71=) rs753250192 0.00004
NM_003239.5(TGFB3):c.288C>T (p.Thr96=) rs201047560 0.00004
NM_003239.5(TGFB3):c.351C>T (p.His117=) rs375232060 0.00004
NM_003239.5(TGFB3):c.387C>T (p.Ser129=) rs749768136 0.00004
NM_003239.5(TGFB3):c.519C>T (p.Ile173=) rs754898843 0.00004
NM_003239.5(TGFB3):c.626G>A (p.Arg209His) rs779897294 0.00004
NM_003239.5(TGFB3):c.755-7T>G rs750868828 0.00004
NM_003239.5(TGFB3):c.850C>T (p.Pro284Ser) rs1018415204 0.00004
NM_003239.5(TGFB3):c.872C>T (p.Pro291Leu) rs145121701 0.00004
NM_003239.5(TGFB3):c.926+17A>G rs374932970 0.00004
NM_000138.5(FBN1):c.1158C>T (p.Asn386=) rs368737502 0.00003
NM_000138.5(FBN1):c.1277C>T (p.Pro426Leu) rs146044644 0.00003
NM_000138.5(FBN1):c.139G>A (p.Gly47Ser) rs762400500 0.00003
NM_000138.5(FBN1):c.164+5A>G rs397515760 0.00003
NM_000138.5(FBN1):c.1668G>A (p.Val556=) rs761662654 0.00003
NM_000138.5(FBN1):c.1747C>T (p.Leu583Phe) rs767293952 0.00003
NM_000138.5(FBN1):c.1992A>T (p.Gly664=) rs183929553 0.00003
NM_000138.5(FBN1):c.2056G>A (p.Ala686Thr) rs377621293 0.00003
NM_000138.5(FBN1):c.2142G>A (p.Gly714=) rs1423523072 0.00003
NM_000138.5(FBN1):c.2658G>A (p.Pro886=) rs193922192 0.00003
NM_000138.5(FBN1):c.2728+20A>C rs765993846 0.00003
NM_000138.5(FBN1):c.2729-8C>G rs775257418 0.00003
NM_000138.5(FBN1):c.2735A>G (p.Asp912Gly) rs754919275 0.00003
NM_000138.5(FBN1):c.2745A>G (p.Glu915=) rs1285398012 0.00003
NM_000138.5(FBN1):c.2930T>G (p.Met977Arg) rs199682686 0.00003
NM_000138.5(FBN1):c.3216C>T (p.Asp1072=) rs757177349 0.00003
NM_000138.5(FBN1):c.3223C>T (p.Arg1075Cys) rs186805359 0.00003
NM_000138.5(FBN1):c.3389A>G (p.His1130Arg) rs747189975 0.00003
NM_000138.5(FBN1):c.3455C>T (p.Ala1152Val) rs539103389 0.00003
NM_000138.5(FBN1):c.3480G>A (p.Glu1160=) rs149625173 0.00003
NM_000138.5(FBN1):c.3523A>G (p.Ile1175Val) rs756754760 0.00003
NM_000138.5(FBN1):c.3610A>G (p.Met1204Val) rs775707895 0.00003
NM_000138.5(FBN1):c.378A>G (p.Gly126=) rs149611106 0.00003
NM_000138.5(FBN1):c.3906A>G (p.Ser1302=) rs756186103 0.00003
NM_000138.5(FBN1):c.4210+10C>T rs200548889 0.00003
NM_000138.5(FBN1):c.4337-5C>G rs370959127 0.00003
NM_000138.5(FBN1):c.4405C>T (p.Arg1469Cys) rs587782946 0.00003
NM_000138.5(FBN1):c.4413G>A (p.Glu1471=) rs756143911 0.00003
NM_000138.5(FBN1):c.442+15G>T rs369470506 0.00003
NM_000138.5(FBN1):c.442+19T>C rs757466131 0.00003
NM_000138.5(FBN1):c.442+1G>A rs868403743 0.00003
NM_000138.5(FBN1):c.4460-9C>T rs372753740 0.00003
NM_000138.5(FBN1):c.4583-11A>G rs780024463 0.00003
NM_000138.5(FBN1):c.4650C>T (p.Ser1550=) rs933962712 0.00003
NM_000138.5(FBN1):c.4719T>C (p.Pro1573=) rs761947423 0.00003
NM_000138.5(FBN1):c.4803C>T (p.Thr1601=) rs747757998 0.00003
NM_000138.5(FBN1):c.5066-7C>G rs377369765 0.00003
NM_000138.5(FBN1):c.5311C>T (p.Arg1771Trp) rs767884599 0.00003
NM_000138.5(FBN1):c.5466C>T (p.Ala1822=) rs947248042 0.00003
NM_000138.5(FBN1):c.5495G>A (p.Arg1832His) rs764203302 0.00003
NM_000138.5(FBN1):c.5519G>A (p.Arg1840His) rs369482365 0.00003
NM_000138.5(FBN1):c.5671+7A>G rs751170564 0.00003
NM_000138.5(FBN1):c.5841C>T (p.Cys1947=) rs151181806 0.00003
NM_000138.5(FBN1):c.6189G>A (p.Ala2063=) rs375624881 0.00003
NM_000138.5(FBN1):c.6314-16A>G rs759468929 0.00003
NM_000138.5(FBN1):c.6314-17G>A rs370991477 0.00003
NM_000138.5(FBN1):c.6338A>T (p.Tyr2113Phe) rs363816 0.00003
NM_000138.5(FBN1):c.6623A>G (p.Asn2208Ser) rs146063839 0.00003
NM_000138.5(FBN1):c.6819G>A (p.Met2273Ile) rs778027769 0.00003
NM_000138.5(FBN1):c.6890C>T (p.Thr2297Met) rs773785908 0.00003
NM_000138.5(FBN1):c.6903C>T (p.Ile2301=) rs146930301 0.00003
NM_000138.5(FBN1):c.7241G>A (p.Arg2414Gln) rs143863014 0.00003
NM_000138.5(FBN1):c.7395T>C (p.Ser2465=) rs774341590 0.00003
NM_000138.5(FBN1):c.7430A>G (p.Gln2477Arg) rs747777955 0.00003
NM_000138.5(FBN1):c.7451A>G (p.Lys2484Arg) rs374630707 0.00003
NM_000138.5(FBN1):c.7677T>C (p.Asp2559=) rs182358927 0.00003
NM_000138.5(FBN1):c.7680G>T (p.Gln2560His) rs780206348 0.00003
NM_000138.5(FBN1):c.7684G>A (p.Gly2562Ser) rs1397580172 0.00003
NM_000138.5(FBN1):c.7842T>G (p.Ala2614=) rs764496589 0.00003
NM_000138.5(FBN1):c.7872C>T (p.Asn2624=) rs539185798 0.00003
NM_000138.5(FBN1):c.8069T>G (p.Met2690Arg) rs747476726 0.00003
NM_000138.5(FBN1):c.8202C>T (p.Asn2734=) rs113904256 0.00003
NM_000138.5(FBN1):c.8219A>G (p.Asn2740Ser) rs193922242 0.00003
NM_000138.5(FBN1):c.8224G>A (p.Glu2742Lys) rs750199580 0.00003
NM_000138.5(FBN1):c.8433G>A (p.Gly2811=) rs771873118 0.00003
NM_000138.5(FBN1):c.843A>C (p.Glu281Asp) rs772218768 0.00003
NM_000138.5(FBN1):c.8616A>G (p.Ter2872=) rs374499193 0.00003
NM_000138.5(FBN1):c.885T>G (p.Ile295Met) rs151056963 0.00003
NM_001032283.3(TMPO):c.213C>G (p.Arg71=) rs910746839 0.00003
NM_001032283.3(TMPO):c.330A>G (p.Leu110=) rs776054749 0.00003
NM_001032283.3(TMPO):c.331G>C (p.Asp111His) rs201838047 0.00003
NM_001032283.3(TMPO):c.529A>G (p.Ser177Gly) rs765922156 0.00003
NM_001032283.3(TMPO):c.565+1287A>G rs534940271 0.00003
NM_001032283.3(TMPO):c.565+1301A>G rs375249647 0.00003
NM_001032283.3(TMPO):c.565+1616T>C rs147635314 0.00003
NM_001032283.3(TMPO):c.565+1917A>G rs727505217 0.00003
NM_001032283.3(TMPO):c.565+1982A>C rs766190912 0.00003
NM_001032283.3(TMPO):c.565+2104A>G rs766567371 0.00003
NM_001032283.3(TMPO):c.565+2247C>T rs369379490 0.00003
NM_001032283.3(TMPO):c.565+2253C>T rs201929673 0.00003
NM_001032283.3(TMPO):c.565+2268A>T rs759832690 0.00003
NM_001032283.3(TMPO):c.565+2301A>G rs765153747 0.00003
NM_001032283.3(TMPO):c.565+2467T>A rs767216575 0.00003
NM_001032283.3(TMPO):c.565+2504G>A rs145677259 0.00003
NM_001999.4(FBN2):c.1091G>A (p.Gly364Asp) rs762615993 0.00003
NM_001999.4(FBN2):c.1410C>A (p.Gly470=) rs750103822 0.00003
NM_001999.4(FBN2):c.1423G>A (p.Gly475Ser) rs200440156 0.00003
NM_001999.4(FBN2):c.1424G>T (p.Gly475Val) rs56312356 0.00003
NM_001999.4(FBN2):c.1526G>T (p.Arg509Leu) rs199587570 0.00003
NM_001999.4(FBN2):c.186G>A (p.Glu62=) rs759839753 0.00003
NM_001999.4(FBN2):c.195G>A (p.Glu65=) rs750055830 0.00003
NM_001999.4(FBN2):c.2214A>T (p.Gly738=) rs201548788 0.00003
NM_001999.4(FBN2):c.2249-12T>C rs776314725 0.00003
NM_001999.4(FBN2):c.2258A>G (p.His753Arg) rs777266350 0.00003
NM_001999.4(FBN2):c.244G>A (p.Val82Met) rs550387143 0.00003
NM_001999.4(FBN2):c.2634G>A (p.Ser878=) rs143905167 0.00003
NM_001999.4(FBN2):c.2674+10A>G rs371734006 0.00003
NM_001999.4(FBN2):c.2943G>T (p.Glu981Asp) rs142249689 0.00003
NM_001999.4(FBN2):c.3061C>T (p.Arg1021Cys) rs541842635 0.00003
NM_001999.4(FBN2):c.3093G>A (p.Ala1031=) rs528529593 0.00003
NM_001999.4(FBN2):c.3279C>T (p.Ile1093=) rs142809999 0.00003
NM_001999.4(FBN2):c.3670C>T (p.Gln1224Ter) rs863223569 0.00003
NM_001999.4(FBN2):c.3702G>A (p.Thr1234=) rs374833053 0.00003
NM_001999.4(FBN2):c.3709C>T (p.Arg1237Cys) rs746570981 0.00003
NM_001999.4(FBN2):c.3710G>T (p.Arg1237Leu) rs142185964 0.00003
NM_001999.4(FBN2):c.3820C>T (p.Leu1274=) rs192602314 0.00003
NM_001999.4(FBN2):c.3840G>A (p.Ser1280=) rs372613935 0.00003
NM_001999.4(FBN2):c.3980A>G (p.Asn1327Ser) rs762567430 0.00003
NM_001999.4(FBN2):c.4103T>C (p.Val1368Ala) rs28763942 0.00003
NM_001999.4(FBN2):c.4290C>T (p.Gly1430=) rs773650336 0.00003
NM_001999.4(FBN2):c.4495A>C (p.Asn1499His) rs771260299 0.00003
NM_001999.4(FBN2):c.4551C>T (p.Cys1517=) rs144018137 0.00003
NM_001999.4(FBN2):c.4785C>T (p.Thr1595=) rs756084999 0.00003
NM_001999.4(FBN2):c.4914C>T (p.Gly1638=) rs1482008222 0.00003
NM_001999.4(FBN2):c.49G>A (p.Gly17Ser) rs1085307788 0.00003
NM_001999.4(FBN2):c.5191A>G (p.Asn1731Asp) rs1476723489 0.00003
NM_001999.4(FBN2):c.5353+11G>A rs572393472 0.00003
NM_001999.4(FBN2):c.5548+20T>C rs372334617 0.00003
NM_001999.4(FBN2):c.5567A>G (p.Asn1856Ser) rs780989245 0.00003
NM_001999.4(FBN2):c.5638G>A (p.Ala1880Thr) rs546148828 0.00003
NM_001999.4(FBN2):c.5814C>T (p.Cys1938=) rs753556200 0.00003
NM_001999.4(FBN2):c.5966G>A (p.Arg1989His) rs189964478 0.00003
NM_001999.4(FBN2):c.6007G>A (p.Glu2003Lys) rs995323393 0.00003
NM_001999.4(FBN2):c.6057G>A (p.Glu2019=) rs752114619 0.00003
NM_001999.4(FBN2):c.629-19T>C rs374428361 0.00003
NM_001999.4(FBN2):c.6411G>A (p.Gly2137=) rs552637321 0.00003
NM_001999.4(FBN2):c.6439G>A (p.Asp2147Asn) rs370650204 0.00003
NM_001999.4(FBN2):c.6505C>T (p.Arg2169Cys) rs1450302477 0.00003
NM_001999.4(FBN2):c.6909C>T (p.His2303=) rs762440824 0.00003
NM_001999.4(FBN2):c.6986G>A (p.Arg2329Gln) rs370804151 0.00003
NM_001999.4(FBN2):c.7338T>C (p.Asp2446=) rs751824761 0.00003
NM_001999.4(FBN2):c.733C>T (p.Arg245Trp) rs146941428 0.00003
NM_001999.4(FBN2):c.7477G>A (p.Asp2493Asn) rs779483120 0.00003
NM_001999.4(FBN2):c.7525A>G (p.Thr2509Ala) rs752627315 0.00003
NM_001999.4(FBN2):c.7587A>G (p.Thr2529=) rs145809024 0.00003
NM_001999.4(FBN2):c.7756G>A (p.Gly2586Arg) rs747305733 0.00003
NM_001999.4(FBN2):c.8046G>T (p.Ser2682=) rs771507975 0.00003
NM_001999.4(FBN2):c.8112C>T (p.Asn2704=) rs370851605 0.00003
NM_001999.4(FBN2):c.8192+7C>T rs376135657 0.00003
NM_001999.4(FBN2):c.81C>T (p.Ala27=) rs746484599 0.00003
NM_001999.4(FBN2):c.8253C>T (p.Val2751=) rs140631421 0.00003
NM_001999.4(FBN2):c.8305G>A (p.Gly2769Ser) rs372206279 0.00003
NM_001999.4(FBN2):c.8332A>C (p.Lys2778Gln) rs371715068 0.00003
NM_001999.4(FBN2):c.8469C>T (p.Pro2823=) rs371397121 0.00003
NM_001999.4(FBN2):c.8596G>A (p.Gly2866Ser) rs752201545 0.00003
NM_001999.4(FBN2):c.8644G>C (p.Glu2882Gln) rs765693576 0.00003
NM_001999.4(FBN2):c.8701G>A (p.Glu2901Lys) rs781069799 0.00003
NM_001999.4(FBN2):c.93G>T (p.Gln31His) rs371491169 0.00003
NM_003036.4(SKI):c.1000C>T (p.Pro334Ser) rs775433131 0.00003
NM_003036.4(SKI):c.1187A>G (p.His396Arg) rs987527805 0.00003
NM_003036.4(SKI):c.1272G>A (p.Pro424=) rs552946737 0.00003
NM_003036.4(SKI):c.142A>C (p.Lys48Gln) rs946543006 0.00003
NM_003036.4(SKI):c.1556G>A (p.Arg519His) rs376322470 0.00003
NM_003036.4(SKI):c.1573G>A (p.Val525Ile) rs141961299 0.00003
NM_003036.4(SKI):c.1637G>A (p.Arg546Gln) rs748681103 0.00003
NM_003036.4(SKI):c.1767+11C>T rs202132957 0.00003
NM_003036.4(SKI):c.1817C>T (p.Thr606Met) rs753862105 0.00003
NM_003036.4(SKI):c.1866G>A (p.Glu622=) rs748886393 0.00003
NM_003036.4(SKI):c.1877A>T (p.Lys626Met) rs774106502 0.00003
NM_003036.4(SKI):c.1935G>T (p.Arg645=) rs751933078 0.00003
NM_003036.4(SKI):c.1999-19C>T rs1367620764 0.00003
NM_003036.4(SKI):c.2112G>A (p.Glu704=) rs1034542455 0.00003
NM_003036.4(SKI):c.2154G>T (p.Ala718=) rs778456446 0.00003
NM_003036.4(SKI):c.336C>T (p.Cys112=) rs752031916 0.00003
NM_003036.4(SKI):c.393G>A (p.Leu131=) rs748004059 0.00003
NM_003036.4(SKI):c.593C>T (p.Pro198Leu) rs1371410513 0.00003
NM_003036.4(SKI):c.844C>A (p.Arg282=) rs753783431 0.00003
NM_003036.4(SKI):c.878G>A (p.Gly293Asp) rs756571135 0.00003
NM_003036.4(SKI):c.915C>G (p.Asp305Glu) rs900879745 0.00003
NM_003036.4(SKI):c.964C>T (p.Pro322Ser) rs779317743 0.00003
NM_003036.4(SKI):c.970-7A>G rs199634070 0.00003
NM_003238.6(TGFB2):c.330C>T (p.Pro110=) rs150348450 0.00003
NM_003238.6(TGFB2):c.400G>A (p.Val134Ile) rs757551766 0.00003
NM_003238.6(TGFB2):c.428A>G (p.Asn143Ser) rs141548795 0.00003
NM_003238.6(TGFB2):c.745A>C (p.Arg249=) rs201845761 0.00003
NM_003239.5(TGFB3):c.1135G>A (p.Val379Met) rs757031677 0.00003
NM_003239.5(TGFB3):c.1185C>T (p.Thr395=) rs753453972 0.00003
NM_003239.5(TGFB3):c.591C>T (p.Ala197=) rs375090568 0.00003
NM_003239.5(TGFB3):c.797G>A (p.Arg266His) rs142069844 0.00003
NM_003239.5(TGFB3):c.859C>T (p.Arg287Trp) rs757774610 0.00003
NM_003239.5(TGFB3):c.948T>C (p.Cys316=) rs1364994786 0.00003
NM_000138.5(FBN1):c.1147+20T>C rs746088095 0.00002
NM_000138.5(FBN1):c.1370G>A (p.Arg457His) rs141217134 0.00002
NM_000138.5(FBN1):c.1468+4C>T rs765579667 0.00002
NM_000138.5(FBN1):c.1547G>A (p.Arg516Gln) rs775489067 0.00002
NM_000138.5(FBN1):c.1562G>A (p.Ser521Asn) rs749253325 0.00002
NM_000138.5(FBN1):c.1566A>G (p.Thr522=) rs531264662 0.00002
NM_000138.5(FBN1):c.164+9A>G rs773997652 0.00002
NM_000138.5(FBN1):c.1692A>T (p.Thr564=) rs1323581379 0.00002
NM_000138.5(FBN1):c.1961-7T>C rs878853675 0.00002
NM_000138.5(FBN1):c.19C>T (p.Leu7=) rs139161583 0.00002
NM_000138.5(FBN1):c.2093C>T (p.Pro698Leu) rs764827921 0.00002
NM_000138.5(FBN1):c.2154G>A (p.Thr718=) rs377033515 0.00002
NM_000138.5(FBN1):c.2344A>G (p.Arg782Gly) rs752891726 0.00002
NM_000138.5(FBN1):c.2419+7C>T rs773155136 0.00002
NM_000138.5(FBN1):c.2502T>A (p.Ser834=) rs754372754 0.00002
NM_000138.5(FBN1):c.2547C>G (p.Ile849Met) rs778258207 0.00002
NM_000138.5(FBN1):c.2582G>A (p.Arg861Gln) rs794728328 0.00002
NM_000138.5(FBN1):c.2678-14G>A rs369475895 0.00002
NM_000138.5(FBN1):c.2854+5A>G rs762989672 0.00002
NM_000138.5(FBN1):c.2855-10C>T rs1044021136 0.00002
NM_000138.5(FBN1):c.2878C>T (p.Leu960=) rs1469750878 0.00002
NM_000138.5(FBN1):c.2883G>T (p.Arg961Ser) rs142964120 0.00002
NM_000138.5(FBN1):c.2893G>C (p.Glu965Gln) rs748905831 0.00002
NM_000138.5(FBN1):c.2911A>G (p.Ile971Val) rs766660415 0.00002
NM_000138.5(FBN1):c.2949C>T (p.Ser983=) rs769307676 0.00002
NM_000138.5(FBN1):c.2950G>A (p.Val984Ile) rs747713929 0.00002
NM_000138.5(FBN1):c.2980G>A (p.Glu994Lys) rs780301913 0.00002
NM_000138.5(FBN1):c.3026C>G (p.Pro1009Arg) rs148076256 0.00002
NM_000138.5(FBN1):c.3142A>G (p.Ile1048Val) rs2229324 0.00002
NM_000138.5(FBN1):c.3359A>T (p.Asp1120Val) rs1183556572 0.00002
NM_000138.5(FBN1):c.3374G>A (p.Arg1125Gln) rs768831064 0.00002
NM_000138.5(FBN1):c.3403A>G (p.Ser1135Gly) rs749255004 0.00002
NM_000138.5(FBN1):c.3410G>A (p.Arg1137His) rs137854456 0.00002
NM_000138.5(FBN1):c.3446A>G (p.Asn1149Ser) rs147584221 0.00002
NM_000138.5(FBN1):c.3453C>T (p.Ser1151=) rs748759748 0.00002
NM_000138.5(FBN1):c.3456G>A (p.Ala1152=) rs777442762 0.00002
NM_000138.5(FBN1):c.346+6T>G rs371159129 0.00002
NM_000138.5(FBN1):c.347-16C>G rs752093190 0.00002
NM_000138.5(FBN1):c.3513C>T (p.Cys1171=) rs775417975 0.00002
NM_000138.5(FBN1):c.3777A>C (p.Gly1259=) rs1404903351 0.00002
NM_000138.5(FBN1):c.3785G>A (p.Arg1262Lys) rs371103773 0.00002
NM_000138.5(FBN1):c.3937G>A (p.Gly1313Ser) rs1156984408 0.00002
NM_000138.5(FBN1):c.4026A>G (p.Thr1342=) rs752154066 0.00002
NM_000138.5(FBN1):c.4088-5A>G rs534913868 0.00002
NM_000138.5(FBN1):c.4336+4A>C rs764099050 0.00002
NM_000138.5(FBN1):c.4337-3A>C rs770551687 0.00002
NM_000138.5(FBN1):c.4358C>T (p.Pro1453Leu) rs368650399 0.00002
NM_000138.5(FBN1):c.4406G>A (p.Arg1469His) rs397515808 0.00002
NM_000138.5(FBN1):c.4488G>A (p.Thr1496=) rs370494288 0.00002
NM_000138.5(FBN1):c.4665T>C (p.Val1555=) rs191569116 0.00002
NM_000138.5(FBN1):c.467A>G (p.Asn156Ser) rs779490973 0.00002
NM_000138.5(FBN1):c.468T>C (p.Asn156=) rs757577615 0.00002
NM_000138.5(FBN1):c.4698G>A (p.Leu1566=) rs143544916 0.00002
NM_000138.5(FBN1):c.4748-6C>T rs376611471 0.00002
NM_000138.5(FBN1):c.4842A>G (p.Pro1614=) rs779362502 0.00002
NM_000138.5(FBN1):c.4999G>A (p.Val1667Ile) rs140626 0.00002
NM_000138.5(FBN1):c.5123G>A (p.Gly1708Glu) rs758600004 0.00002
NM_000138.5(FBN1):c.5190C>T (p.Asn1730=) rs765997414 0.00002
NM_000138.5(FBN1):c.5292C>T (p.Pro1764=) rs111756438 0.00002
NM_000138.5(FBN1):c.5423-5C>T rs368750818 0.00002
NM_000138.5(FBN1):c.5443G>A (p.Gly1815Ser) rs745680336 0.00002
NM_000138.5(FBN1):c.5463C>T (p.Asn1821=) rs753966383 0.00002
NM_000138.5(FBN1):c.5467G>A (p.Glu1823Lys) rs567397762 0.00002
NM_000138.5(FBN1):c.5518C>T (p.Arg1840Cys) rs765387131 0.00002
NM_000138.5(FBN1):c.5788+19G>A rs758996081 0.00002
NM_000138.5(FBN1):c.5899G>T (p.Asp1967Tyr) rs776999627 0.00002
NM_000138.5(FBN1):c.5918-12T>G rs751115639 0.00002
NM_000138.5(FBN1):c.6007G>A (p.Gly2003Arg) rs1413737899 0.00002
NM_000138.5(FBN1):c.601G>A (p.Gly201Arg) rs748358548 0.00002
NM_000138.5(FBN1):c.6095C>G (p.Thr2032Ser) rs756506237 0.00002
NM_000138.5(FBN1):c.6129G>C (p.Gly2043=) rs766473100 0.00002
NM_000138.5(FBN1):c.6180C>T (p.Tyr2060=) rs974604498 0.00002
NM_000138.5(FBN1):c.619A>T (p.Thr207Ser) rs1464303112 0.00002
NM_000138.5(FBN1):c.62C>T (p.Thr21Met) rs1489806847 0.00002
NM_000138.5(FBN1):c.6379+11T>C rs370322263 0.00002
NM_000138.5(FBN1):c.6379+4A>G rs780370404 0.00002
NM_000138.5(FBN1):c.6387C>T (p.Asp2129=) rs147342485 0.00002
NM_000138.5(FBN1):c.6534T>A (p.Asn2178Lys) rs770257902 0.00002
NM_000138.5(FBN1):c.6616+5A>G rs1381778697 0.00002
NM_000138.5(FBN1):c.6732G>A (p.Met2244Ile) rs780960909 0.00002
NM_000138.5(FBN1):c.6844C>T (p.Arg2282Trp) rs765205164 0.00002
NM_000138.5(FBN1):c.6872-12A>G rs568325297 0.00002
NM_000138.5(FBN1):c.6998-7C>T rs764823572 0.00002
NM_000138.5(FBN1):c.7231G>A (p.Asp2411Asn) rs775558051 0.00002
NM_000138.5(FBN1):c.7283T>C (p.Ile2428Thr) rs565474071 0.00002
NM_000138.5(FBN1):c.7400A>G (p.Gln2467Arg) rs770839761 0.00002
NM_000138.5(FBN1):c.7454-6T>C rs1253572031 0.00002
NM_000138.5(FBN1):c.7501G>C (p.Val2501Leu) rs371110611 0.00002
NM_000138.5(FBN1):c.7524A>G (p.Thr2508=) rs201992942 0.00002
NM_000138.5(FBN1):c.7533T>C (p.Cys2511=) rs750331217 0.00002
NM_000138.5(FBN1):c.7575C>T (p.Asn2525=) rs759021474 0.00002
NM_000138.5(FBN1):c.7683C>T (p.Thr2561=) rs758353830 0.00002
NM_000138.5(FBN1):c.7701C>T (p.Asp2567=) rs368054842 0.00002
NM_000138.5(FBN1):c.7727G>A (p.Arg2576His) rs369888822 0.00002
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054 0.00002
NM_000138.5(FBN1):c.8130C>T (p.Leu2710=) rs372105662 0.00002
NM_000138.5(FBN1):c.8227-10G>A rs765093559 0.00002
NM_000138.5(FBN1):c.8327G>A (p.Arg2776Gln) rs748327743 0.00002
NM_000138.5(FBN1):c.832A>G (p.Lys278Glu) rs775505429 0.00002
NM_000138.5(FBN1):c.8386G>A (p.Glu2796Lys) rs112310699 0.00002
NM_000138.5(FBN1):c.8533C>T (p.Leu2845=) rs767060377 0.00002
NM_000138.5(FBN1):c.8G>C (p.Arg3Pro) rs149929989 0.00002
NM_001032283.3(TMPO):c.153G>A (p.Pro51=) rs755323971 0.00002
NM_001032283.3(TMPO):c.248C>T (p.Ala83Val) rs730880228 0.00002
NM_001032283.3(TMPO):c.318T>A (p.Asp106Glu) rs772509210 0.00002
NM_001032283.3(TMPO):c.370C>T (p.Leu124Phe) rs375619307 0.00002
NM_001032283.3(TMPO):c.497C>A (p.Ser166Tyr) rs147012167 0.00002
NM_001032283.3(TMPO):c.51G>A (p.Lys17=) rs766680931 0.00002
NM_001032283.3(TMPO):c.565+1078A>G rs774074641 0.00002
NM_001032283.3(TMPO):c.565+1232C>T rs369897433 0.00002
NM_001032283.3(TMPO):c.565+1246T>C rs144465114 0.00002
NM_001032283.3(TMPO):c.565+1449A>G rs754951098 0.00002
NM_001032283.3(TMPO):c.565+1597T>C rs1227785613 0.00002
NM_001032283.3(TMPO):c.565+1829dup rs1877366767 0.00002
NM_001032283.3(TMPO):c.565+2095A>C rs557983360 0.00002
NM_001032283.3(TMPO):c.565+2137A>G rs886049913 0.00002
NM_001032283.3(TMPO):c.565+2150A>G rs200856956 0.00002
NM_001032283.3(TMPO):c.565+2248G>A rs150445385 0.00002
NM_001032283.3(TMPO):c.70A>C (p.Asn24His) rs727505279 0.00002
NM_001032283.3(TMPO):c.85G>A (p.Ala29Thr) rs1174108011 0.00002
NM_001999.4(FBN2):c.1058C>T (p.Thr353Ile) rs1204127908 0.00002
NM_001999.4(FBN2):c.1079-10A>G rs766920012 0.00002
NM_001999.4(FBN2):c.1093A>G (p.Met365Val) rs1401325502 0.00002
NM_001999.4(FBN2):c.1194C>T (p.Ile398=) rs766004910 0.00002
NM_001999.4(FBN2):c.1238A>G (p.Tyr413Cys) rs576123258 0.00002
NM_001999.4(FBN2):c.1253T>C (p.Met418Thr) rs769840338 0.00002
NM_001999.4(FBN2):c.125C>T (p.Pro42Leu) rs773011327 0.00002
NM_001999.4(FBN2):c.1333A>G (p.Ser445Gly) rs143515269 0.00002
NM_001999.4(FBN2):c.1365G>T (p.Gly455=) rs794726987 0.00002
NM_001999.4(FBN2):c.1410C>T (p.Gly470=) rs750103822 0.00002
NM_001999.4(FBN2):c.1412T>C (p.Val471Ala) rs928205576 0.00002
NM_001999.4(FBN2):c.1422C>T (p.Ala474=) rs764073494 0.00002
NM_001999.4(FBN2):c.1434C>T (p.Ala478=) rs755786214 0.00002
NM_001999.4(FBN2):c.150T>C (p.Ala50=) rs543546489 0.00002
NM_001999.4(FBN2):c.1553G>A (p.Arg518Gln) rs748051713 0.00002
NM_001999.4(FBN2):c.1685C>T (p.Ala562Val) rs886059902 0.00002
NM_001999.4(FBN2):c.1734G>C (p.Glu578Asp) rs371046485 0.00002
NM_001999.4(FBN2):c.1849+8A>G rs747219934 0.00002
NM_001999.4(FBN2):c.1897A>G (p.Ile633Val) rs748419325 0.00002
NM_001999.4(FBN2):c.1911C>G (p.Gly637=) rs537558351 0.00002
NM_001999.4(FBN2):c.1961G>A (p.Arg654His) rs780589159 0.00002
NM_001999.4(FBN2):c.1973-20T>C rs774598343 0.00002
NM_001999.4(FBN2):c.1990A>T (p.Thr664Ser) rs746408145 0.00002
NM_001999.4(FBN2):c.2036C>T (p.Ser679Phe) rs760483684 0.00002
NM_001999.4(FBN2):c.2219C>G (p.Pro740Arg) rs1204171410 0.00002
NM_001999.4(FBN2):c.2532G>A (p.Arg844=) rs369638207 0.00002
NM_001999.4(FBN2):c.255-15G>A rs587780942 0.00002
NM_001999.4(FBN2):c.2620A>C (p.Asn874His) rs1297639505 0.00002
NM_001999.4(FBN2):c.2638G>A (p.Gly880Ser) rs555682061 0.00002
NM_001999.4(FBN2):c.2772C>T (p.Leu924=) rs773453872 0.00002
NM_001999.4(FBN2):c.2802G>A (p.Arg934=) rs140500093 0.00002
NM_001999.4(FBN2):c.2811A>G (p.Leu937=) rs1751336276 0.00002
NM_001999.4(FBN2):c.2901A>G (p.Pro967=) rs185991527 0.00002
NM_001999.4(FBN2):c.2902A>G (p.Asn968Asp) rs774248421 0.00002
NM_001999.4(FBN2):c.2941G>A (p.Glu981Lys) rs758694112 0.00002
NM_001999.4(FBN2):c.2990-8C>T rs370825177 0.00002
NM_001999.4(FBN2):c.3041A>C (p.His1014Pro) rs551801199 0.00002
NM_001999.4(FBN2):c.3092C>T (p.Ala1031Val) rs754884110 0.00002
NM_001999.4(FBN2):c.3150G>A (p.Thr1050=) rs201631085 0.00002
NM_001999.4(FBN2):c.3349G>A (p.Asp1117Asn) rs537477883 0.00002
NM_001999.4(FBN2):c.3404C>T (p.Pro1135Leu) rs772041342 0.00002
NM_001999.4(FBN2):c.3432A>G (p.Glu1144=) rs757682009 0.00002
NM_001999.4(FBN2):c.3442A>G (p.Ser1148Gly) rs764809572 0.00002
NM_001999.4(FBN2):c.3464A>G (p.Asn1155Ser) rs150224718 0.00002
NM_001999.4(FBN2):c.362A>G (p.Asp121Gly) rs770483769 0.00002
NM_001999.4(FBN2):c.3957C>G (p.Asp1319Glu) rs769665538 0.00002
NM_001999.4(FBN2):c.3993A>G (p.Leu1331=) rs141505866 0.00002
NM_001999.4(FBN2):c.4009A>G (p.Met1337Val) rs776567929 0.00002
NM_001999.4(FBN2):c.404G>A (p.Gly135Glu) rs778566871 0.00002
NM_001999.4(FBN2):c.4099+8T>C rs765204163 0.00002
NM_001999.4(FBN2):c.4489T>G (p.Phe1497Val) rs150986564 0.00002
NM_001999.4(FBN2):c.4497C>T (p.Asn1499=) rs368341114 0.00002
NM_001999.4(FBN2):c.4779C>T (p.Cys1593=) rs780191346 0.00002
NM_001999.4(FBN2):c.4801G>A (p.Val1601Ile) rs762108847 0.00002
NM_001999.4(FBN2):c.4962C>T (p.Cys1654=) rs753935960 0.00002
NM_001999.4(FBN2):c.5045A>C (p.Tyr1682Ser) rs769474473 0.00002
NM_001999.4(FBN2):c.5097T>A (p.His1699Gln) rs757807339 0.00002
NM_001999.4(FBN2):c.5126A>G (p.Tyr1709Cys) rs759117573 0.00002
NM_001999.4(FBN2):c.533-6A>G rs56400997 0.00002
NM_001999.4(FBN2):c.5551A>G (p.Ile1851Val) rs779901706 0.00002
NM_001999.4(FBN2):c.5574T>C (p.Asp1858=) rs757483263 0.00002
NM_001999.4(FBN2):c.5678G>A (p.Arg1893His) rs368384428 0.00002
NM_001999.4(FBN2):c.5703C>T (p.Asn1901=) rs746592808 0.00002
NM_001999.4(FBN2):c.5787G>A (p.Gln1929=) rs746307443 0.00002
NM_001999.4(FBN2):c.5819G>A (p.Arg1940Gln) rs749907917 0.00002
NM_001999.4(FBN2):c.5854G>A (p.Val1952Ile) rs763393398 0.00002
NM_001999.4(FBN2):c.5941T>A (p.Phe1981Ile) rs527609978 0.00002
NM_001999.4(FBN2):c.6250C>T (p.Pro2084Ser) rs868031420 0.00002
NM_001999.4(FBN2):c.629-6T>C rs757696693 0.00002
NM_001999.4(FBN2):c.6329A>G (p.Asn2110Ser) rs1016100479 0.00002
NM_001999.4(FBN2):c.6490A>G (p.Ser2164Gly) rs763160605 0.00002
NM_001999.4(FBN2):c.672G>T (p.Met224Ile) rs371292311 0.00002
NM_001999.4(FBN2):c.6881-5T>G rs772186151 0.00002
NM_001999.4(FBN2):c.6910G>A (p.Asp2304Asn) rs368802769 0.00002
NM_001999.4(FBN2):c.6973C>T (p.Pro2325Ser) rs751231315 0.00002
NM_001999.4(FBN2):c.6984C>T (p.Ala2328=) rs942158485 0.00002
NM_001999.4(FBN2):c.6989G>A (p.Arg2330Lys) rs886038992 0.00002
NM_001999.4(FBN2):c.6994G>A (p.Asp2332Asn) rs886059894 0.00002
NM_001999.4(FBN2):c.69G>T (p.Ala23=) rs774856011 0.00002
NM_001999.4(FBN2):c.6G>C (p.Gly2=) rs746567292 0.00002
NM_001999.4(FBN2):c.7033A>G (p.Lys2345Glu) rs1464960068 0.00002
NM_001999.4(FBN2):c.7137T>G (p.Leu2379=) rs765676702 0.00002
NM_001999.4(FBN2):c.7138+10C>T rs1187342807 0.00002
NM_001999.4(FBN2):c.7213G>A (p.Val2405Ile) rs753865904 0.00002
NM_001999.4(FBN2):c.7247G>A (p.Arg2416Gln) rs755437836 0.00002
NM_001999.4(FBN2):c.7389T>A (p.Gly2463=) rs749843181 0.00002
NM_001999.4(FBN2):c.7400A>G (p.Asn2467Ser) rs562508529 0.00002
NM_001999.4(FBN2):c.7496C>T (p.Pro2499Leu) rs199583859 0.00002
NM_001999.4(FBN2):c.7511A>G (p.Tyr2504Cys) rs764032053 0.00002
NM_001999.4(FBN2):c.7595-13T>C rs747620496 0.00002
NM_001999.4(FBN2):c.7660T>G (p.Phe2554Val) rs775848753 0.00002
NM_001999.4(FBN2):c.7712-11T>A rs776926809 0.00002
NM_001999.4(FBN2):c.7780A>G (p.Ser2594Gly) rs1430209734 0.00002
NM_001999.4(FBN2):c.7960+13T>G rs1023942727 0.00002
NM_001999.4(FBN2):c.7961-10G>A rs752746367 0.00002
NM_001999.4(FBN2):c.8019G>C (p.Leu2673=) rs144013739 0.00002
NM_001999.4(FBN2):c.811A>C (p.Thr271Pro) rs201988564 0.00002
NM_001999.4(FBN2):c.8207G>A (p.Gly2736Glu) rs149180427 0.00002
NM_001999.4(FBN2):c.8497C>T (p.Arg2833Cys) rs863223592 0.00002
NM_001999.4(FBN2):c.8498G>A (p.Arg2833His) rs753753954 0.00002
NM_001999.4(FBN2):c.8573C>T (p.Thr2858Met) rs754475064 0.00002
NM_001999.4(FBN2):c.891C>A (p.Gly297=) rs539258943 0.00002
NM_003036.4(SKI):c.1034C>T (p.Ala345Val) rs201599402 0.00002
NM_003036.4(SKI):c.1059C>T (p.Ser353=) rs375991331 0.00002
NM_003036.4(SKI):c.1069C>T (p.Arg357Trp) rs370418830 0.00002
NM_003036.4(SKI):c.1081G>A (p.Gly361Ser) rs759663808 0.00002
NM_003036.4(SKI):c.1118G>A (p.Arg373His) rs768924434 0.00002
NM_003036.4(SKI):c.1153G>A (p.Ala385Thr) rs758235470 0.00002
NM_003036.4(SKI):c.1211+17C>T rs753878221 0.00002
NM_003036.4(SKI):c.1264G>A (p.Ala422Thr) rs760579911 0.00002
NM_003036.4(SKI):c.1268C>T (p.Pro423Leu) rs752779978 0.00002
NM_003036.4(SKI):c.1336C>T (p.Leu446Phe) rs1464178129 0.00002
NM_003036.4(SKI):c.1382C>T (p.Thr461Ile) rs141464453 0.00002
NM_003036.4(SKI):c.1400C>T (p.Thr467Met) rs752151031 0.00002
NM_003036.4(SKI):c.1480T>A (p.Ser494Thr) rs781304969 0.00002
NM_003036.4(SKI):c.1553C>T (p.Ala518Val) rs776056360 0.00002
NM_003036.4(SKI):c.1569G>A (p.Ser523=) rs767052019 0.00002
NM_003036.4(SKI):c.1596C>T (p.Ala532=) rs752673852 0.00002
NM_003036.4(SKI):c.1599C>T (p.Asp533=) rs758323266 0.00002
NM_003036.4(SKI):c.1654G>A (p.Gly552Ser) rs1010245755 0.00002
NM_003036.4(SKI):c.1708C>T (p.Arg570Cys) rs377517039 0.00002
NM_003036.4(SKI):c.190G>A (p.Val64Met) rs754036418 0.00002
NM_003036.4(SKI):c.1967C>T (p.Ala656Val) rs571976990 0.00002
NM_003036.4(SKI):c.2013G>A (p.Gln671=) rs1040803635 0.00002
NM_003036.4(SKI):c.209C>T (p.Pro70Leu) rs994969301 0.00002
NM_003036.4(SKI):c.2165G>A (p.Gly722Asp) rs1488554459 0.00002
NM_003036.4(SKI):c.625C>A (p.Leu209Met) rs771298442 0.00002
NM_003036.4(SKI):c.762C>T (p.Tyr254=) rs56352201 0.00002
NM_003036.4(SKI):c.892G>T (p.Ala298Ser) rs769113221 0.00002
NM_003036.4(SKI):c.930A>G (p.Lys310=) rs751629802 0.00002
NM_003036.4(SKI):c.938A>G (p.Tyr313Cys) rs767730615 0.00002
NM_003036.4(SKI):c.975C>T (p.Ser325=) rs753145672 0.00002
NM_003036.4(SKI):c.985C>T (p.Pro329Ser) rs770539313 0.00002
NM_003238.6(TGFB2):c.1087-13T>G rs374394434 0.00002
NM_003238.6(TGFB2):c.1186A>C (p.Lys396Gln) rs751650226 0.00002
NM_003238.6(TGFB2):c.251G>A (p.Arg84Gln) rs781392453 0.00002
NM_003238.6(TGFB2):c.456T>C (p.Phe152=) rs372071268 0.00002
NM_003238.6(TGFB2):c.798T>A (p.Thr266=) rs376354795 0.00002
NM_003238.6(TGFB2):c.94T>C (p.Phe32Leu) rs779872141 0.00002
NM_003239.5(TGFB3):c.1134C>T (p.Cys378=) rs780993645 0.00002
NM_003239.5(TGFB3):c.324C>T (p.Phe108=) rs779502039 0.00002
NM_003239.5(TGFB3):c.488G>A (p.Arg163Gln) rs920721092 0.00002
NM_003239.5(TGFB3):c.529G>A (p.Asp177Asn) rs755611135 0.00002
NM_003239.5(TGFB3):c.604T>G (p.Phe202Val) rs1474433492 0.00002
NM_003239.5(TGFB3):c.693C>T (p.Thr231=) rs780510419 0.00002
NM_003239.5(TGFB3):c.883G>C (p.Gly295Arg) rs766164843 0.00002
NM_003239.5(TGFB3):c.908A>C (p.Asp303Ala) rs768423844 0.00002
NM_003239.5(TGFB3):c.927-20A>G rs574227787 0.00002
NM_000138.5(FBN1):c.1026C>T (p.Asn342=) rs769282306 0.00001
NM_000138.5(FBN1):c.1030C>T (p.Arg344Cys) rs752010116 0.00001
NM_000138.5(FBN1):c.1031G>A (p.Arg344His) rs200388305 0.00001
NM_000138.5(FBN1):c.1086C>T (p.Ala362=) rs1338617046 0.00001
NM_000138.5(FBN1):c.1091G>A (p.Arg364Gln) rs536588176 0.00001
NM_000138.5(FBN1):c.1108G>T (p.Val370Phe) rs1191931914 0.00001
NM_000138.5(FBN1):c.1117G>A (p.Ala373Thr) rs766162654 0.00001
NM_000138.5(FBN1):c.1118C>T (p.Ala373Val) rs762598979 0.00001
NM_000138.5(FBN1):c.1131T>C (p.Cys377=) rs769211348 0.00001
NM_000138.5(FBN1):c.1146C>T (p.Thr382=) rs889875676 0.00001
NM_000138.5(FBN1):c.1147+16G>A rs780632581 0.00001
NM_000138.5(FBN1):c.1150G>A (p.Asp384Asn) rs1405173549 0.00001
NM_000138.5(FBN1):c.1167C>T (p.Cys389=) rs746201757 0.00001
NM_000138.5(FBN1):c.1169C>T (p.Ser390Phe) rs746385384 0.00001
NM_000138.5(FBN1):c.1174C>G (p.Pro392Ala) rs749467972 0.00001
NM_000138.5(FBN1):c.1177A>G (p.Met393Val) rs983129867 0.00001
NM_000138.5(FBN1):c.1215C>A (p.Pro405=) rs1213208601 0.00001
NM_000138.5(FBN1):c.1216C>G (p.Leu406Val) rs1257581073 0.00001
NM_000138.5(FBN1):c.1235T>A (p.Val412Asp) rs764925097 0.00001
NM_000138.5(FBN1):c.1289C>T (p.Pro430Leu) rs771134832 0.00001
NM_000138.5(FBN1):c.1344C>T (p.Asn448=) rs1281826850 0.00001
NM_000138.5(FBN1):c.1368C>G (p.Val456=) rs1433264110 0.00001
NM_000138.5(FBN1):c.1373A>G (p.Tyr458Cys) rs749133312 0.00001
NM_000138.5(FBN1):c.1407T>G (p.Pro469=) rs1016146856 0.00001
NM_000138.5(FBN1):c.1417C>T (p.Arg473Trp) rs767068276 0.00001
NM_000138.5(FBN1):c.1471G>A (p.Val491Ile) rs373751659 0.00001
NM_000138.5(FBN1):c.1494C>T (p.Pro498=) rs765595961 0.00001
NM_000138.5(FBN1):c.1529C>T (p.Ser510Leu) rs776942896 0.00001
NM_000138.5(FBN1):c.1533C>T (p.Tyr511=) rs1060504146 0.00001
NM_000138.5(FBN1):c.1560G>C (p.Gln520His) rs143253318 0.00001
NM_000138.5(FBN1):c.1572G>A (p.Thr524=) rs1232119767 0.00001
NM_000138.5(FBN1):c.15T>C (p.Arg5=) rs1371787168 0.00001
NM_000138.5(FBN1):c.1603T>A (p.Leu535Ile) rs1485432119 0.00001
NM_000138.5(FBN1):c.1604T>C (p.Leu535Ser) rs754364317 0.00001
NM_000138.5(FBN1):c.1605A>G (p.Leu535=) rs778013543 0.00001
NM_000138.5(FBN1):c.1615C>T (p.Arg539Trp) rs752999845 0.00001
NM_000138.5(FBN1):c.1634G>A (p.Arg545His) rs193922179 0.00001
NM_000138.5(FBN1):c.1639A>G (p.Ile547Val) rs759813328 0.00001
NM_000138.5(FBN1):c.164+12G>A rs571164659 0.00001
NM_000138.5(FBN1):c.164+18C>T rs772382145 0.00001
NM_000138.5(FBN1):c.164+6G>A rs760968439 0.00001
NM_000138.5(FBN1):c.1640T>C (p.Ile547Thr) rs112269822 0.00001
NM_000138.5(FBN1):c.1647A>T (p.Thr549=) rs2043746264 0.00001
NM_000138.5(FBN1):c.165-13G>A rs985235880 0.00001
NM_000138.5(FBN1):c.165-7G>A rs397515761 0.00001
NM_000138.5(FBN1):c.165-9T>C rs758117122 0.00001
NM_000138.5(FBN1):c.1653C>T (p.Gly551=) rs766565738 0.00001
NM_000138.5(FBN1):c.1676C>T (p.Ala559Val) rs141551765 0.00001
NM_000138.5(FBN1):c.1686T>G (p.His562Gln) rs1220088131 0.00001
NM_000138.5(FBN1):c.1693C>T (p.Arg565Ter) rs113422242 0.00001
NM_000138.5(FBN1):c.1694G>A (p.Arg565Gln) rs763815231 0.00001
NM_000138.5(FBN1):c.1714+10G>A rs760474361 0.00001
NM_000138.5(FBN1):c.1715-12T>C rs1057521270 0.00001
NM_000138.5(FBN1):c.1715-14T>G rs753746089 0.00001
NM_000138.5(FBN1):c.1731C>T (p.Ser577=) rs1453708754 0.00001
NM_000138.5(FBN1):c.174C>A (p.Val58=) rs369096927 0.00001
NM_000138.5(FBN1):c.1776C>G (p.Gly592=) rs759191650 0.00001
NM_000138.5(FBN1):c.1779T>C (p.Ser593=) rs372195702 0.00001
NM_000138.5(FBN1):c.1826G>A (p.Arg609His) rs770393471 0.00001
NM_000138.5(FBN1):c.1837+10A>G rs2043731034 0.00001
NM_000138.5(FBN1):c.1837+9T>C rs56102085 0.00001
NM_000138.5(FBN1):c.1838-7G>A rs772849691 0.00001
NM_000138.5(FBN1):c.1845C>T (p.Asn615=) rs932735615 0.00001
NM_000138.5(FBN1):c.1856C>A (p.Thr619Asn) rs377686210 0.00001
NM_000138.5(FBN1):c.1858C>T (p.Pro620Ser) rs1220853793 0.00001
NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys) rs727503057 0.00001
NM_000138.5(FBN1):c.1907G>A (p.Arg636Lys) rs1335136151 0.00001
NM_000138.5(FBN1):c.1914A>C (p.Glu638Asp) rs794728180 0.00001
NM_000138.5(FBN1):c.1937G>A (p.Gly646Asp) rs1238689648 0.00001
NM_000138.5(FBN1):c.1960+17G>A rs749990136 0.00001
NM_000138.5(FBN1):c.1977C>T (p.Ser659=) rs750118053 0.00001
NM_000138.5(FBN1):c.2017C>T (p.Pro673Ser) rs766346620 0.00001
NM_000138.5(FBN1):c.2020T>C (p.Leu674=) rs753453348 0.00001
NM_000138.5(FBN1):c.2058C>A (p.Ala686=) rs759859967 0.00001
NM_000138.5(FBN1):c.207T>C (p.Pro69=) rs771057822 0.00001
NM_000138.5(FBN1):c.2082A>G (p.Glu694=) rs773288488 0.00001
NM_000138.5(FBN1):c.2090A>G (p.Gln697Arg) rs769708437 0.00001
NM_000138.5(FBN1):c.2098C>T (p.Pro700Ser) rs745694291 0.00001
NM_000138.5(FBN1):c.2106G>T (p.Gln702His) rs778835898 0.00001
NM_000138.5(FBN1):c.2113+13A>G rs755529582 0.00001
NM_000138.5(FBN1):c.2113+17A>G rs1246446564 0.00001
NM_000138.5(FBN1):c.2113+19A>T rs541501178 0.00001
NM_000138.5(FBN1):c.2113+8G>A rs763708195 0.00001
NM_000138.5(FBN1):c.2115G>A (p.Ala705=) rs932764622 0.00001
NM_000138.5(FBN1):c.2126C>G (p.Ala709Gly) rs794728184 0.00001
NM_000138.5(FBN1):c.2127A>C (p.Ala709=) rs886038990 0.00001
NM_000138.5(FBN1):c.2153C>T (p.Thr718Met) rs777526851 0.00001
NM_000138.5(FBN1):c.2188G>A (p.Asp730Asn) rs199625633 0.00001
NM_000138.5(FBN1):c.2228G>A (p.Arg743His) rs761942436 0.00001
NM_000138.5(FBN1):c.2253T>C (p.Asn751=) rs1566912218 0.00001
NM_000138.5(FBN1):c.2293+16C>G rs772889439 0.00001
NM_000138.5(FBN1):c.2294-19A>C rs1353634853 0.00001
NM_000138.5(FBN1):c.2349T>C (p.Asn783=) rs1057522903 0.00001
NM_000138.5(FBN1):c.2393A>G (p.Tyr798Cys) rs1064793112 0.00001
NM_000138.5(FBN1):c.2406A>G (p.Leu802=) rs1490836069 0.00001
NM_000138.5(FBN1):c.2433C>T (p.Cys811=) rs193921256 0.00001
NM_000138.5(FBN1):c.2449A>G (p.Ile817Val) rs965020667 0.00001
NM_000138.5(FBN1):c.2531T>C (p.Ile844Thr) rs751564716 0.00001
NM_000138.5(FBN1):c.2540-7T>C rs749692510 0.00001
NM_000138.5(FBN1):c.2568T>G (p.Thr856=) rs781607814 0.00001
NM_000138.5(FBN1):c.2577T>C (p.Asp859=) rs779997664 0.00001
NM_000138.5(FBN1):c.2598C>T (p.Ile866=) rs752457534 0.00001
NM_000138.5(FBN1):c.261T>C (p.His87=) rs775220887 0.00001
NM_000138.5(FBN1):c.2628C>T (p.Cys876=) rs112085967 0.00001
NM_000138.5(FBN1):c.2634C>T (p.Ser878=) rs770395971 0.00001
NM_000138.5(FBN1):c.2640T>G (p.Gly880=) rs1597568836 0.00001
NM_000138.5(FBN1):c.2683A>G (p.Ile895Val) rs772308703 0.00001
NM_000138.5(FBN1):c.2684T>C (p.Ile895Thr) rs1488064078 0.00001
NM_000138.5(FBN1):c.2711A>G (p.Lys904Arg) rs778951277 0.00001
NM_000138.5(FBN1):c.2713G>A (p.Gly905Arg) rs756111066 0.00001
NM_000138.5(FBN1):c.2748G>A (p.Val916=) rs1339922695 0.00001
NM_000138.5(FBN1):c.2768A>G (p.Asn923Ser) rs1220842179 0.00001
NM_000138.5(FBN1):c.2771G>T (p.Gly924Val) rs1206476337 0.00001
NM_000138.5(FBN1):c.2773C>G (p.Leu925Val) rs149681175 0.00001
NM_000138.5(FBN1):c.284C>T (p.Ser95Leu) rs922684362 0.00001
NM_000138.5(FBN1):c.2855-4A>G rs769851513 0.00001
NM_000138.5(FBN1):c.285G>A (p.Ser95=) rs745596276 0.00001
NM_000138.5(FBN1):c.2877C>A (p.Phe959Leu) rs1411365281 0.00001
NM_000138.5(FBN1):c.287G>C (p.Arg96Thr) rs794728291 0.00001
NM_000138.5(FBN1):c.2883G>A (p.Arg961=) rs142964120 0.00001
NM_000138.5(FBN1):c.2886C>T (p.Tyr962=) rs772108557 0.00001
NM_000138.5(FBN1):c.2902A>T (p.Thr968Ser) rs752117227 0.00001
NM_000138.5(FBN1):c.2909C>T (p.Pro970Leu) rs751985082 0.00001
NM_000138.5(FBN1):c.2920C>T (p.Arg974Cys) rs397514558 0.00001
NM_000138.5(FBN1):c.2926C>T (p.Arg976Cys) rs548296552 0.00001
NM_000138.5(FBN1):c.2935G>A (p.Ala979Thr) rs748915171 0.00001
NM_000138.5(FBN1):c.2977T>C (p.Cys993Arg) rs1206813753 0.00001
NM_000138.5(FBN1):c.2979C>T (p.Cys993=) rs150126098 0.00001
NM_000138.5(FBN1):c.297G>A (p.Met99Ile) rs1314594090 0.00001
NM_000138.5(FBN1):c.2986T>C (p.Cys996Arg) rs140592 0.00001
NM_000138.5(FBN1):c.2991C>A (p.Pro997=) rs1225275544 0.00001
NM_000138.5(FBN1):c.3021G>A (p.Leu1007=) rs764203356 0.00001
NM_000138.5(FBN1):c.3031G>A (p.Gly1011Arg) rs1267721327 0.00001
NM_000138.5(FBN1):c.3036C>T (p.Pro1012=) rs766194667 0.00001
NM_000138.5(FBN1):c.3043G>A (p.Ala1015Thr) rs55831697 0.00001
NM_000138.5(FBN1):c.3089A>G (p.Asn1030Ser) rs375996640 0.00001
NM_000138.5(FBN1):c.3128A>G (p.Lys1043Arg) rs137854472 0.00001
NM_000138.5(FBN1):c.3209-3C>A rs397515787 0.00001
NM_000138.5(FBN1):c.3209-6G>A rs942309418 0.00001
NM_000138.5(FBN1):c.3209-9T>C rs1188743312 0.00001
NM_000138.5(FBN1):c.3211A>G (p.Ile1071Val) rs990134651 0.00001
NM_000138.5(FBN1):c.3214G>A (p.Asp1072Asn) rs778867355 0.00001
NM_000138.5(FBN1):c.3255G>A (p.Gln1085=) rs767088495 0.00001
NM_000138.5(FBN1):c.3330C>T (p.Asn1110=) rs374584763 0.00001
NM_000138.5(FBN1):c.3337+20A>G rs757193641 0.00001
NM_000138.5(FBN1):c.3348G>A (p.Glu1116=) rs1183230087 0.00001
NM_000138.5(FBN1):c.3369A>G (p.Leu1123=) rs1245413946 0.00001
NM_000138.5(FBN1):c.3376G>A (p.Gly1126Ser) rs1437464599 0.00001
NM_000138.5(FBN1):c.3400G>A (p.Gly1134Arg) rs372404949 0.00001
NM_000138.5(FBN1):c.3405T>A (p.Ser1135Arg) rs777727844 0.00001
NM_000138.5(FBN1):c.3409C>T (p.Arg1137Cys) rs1439487763 0.00001
NM_000138.5(FBN1):c.3452C>T (p.Ser1151Phe) rs145146283 0.00001
NM_000138.5(FBN1):c.3463G>A (p.Asp1155Asn) rs794728204 0.00001
NM_000138.5(FBN1):c.3464-19C>G rs928322808 0.00001
NM_000138.5(FBN1):c.3464-3C>T rs770992241 0.00001
NM_000138.5(FBN1):c.347-19C>A rs755487996 0.00001
NM_000138.5(FBN1):c.347-2A>G rs1555405056 0.00001
NM_000138.5(FBN1):c.3522C>T (p.Leu1174=) rs778312047 0.00001
NM_000138.5(FBN1):c.353A>G (p.His118Arg) rs765503809 0.00001
NM_000138.5(FBN1):c.3560A>G (p.His1187Arg) rs193922200 0.00001
NM_000138.5(FBN1):c.3563C>T (p.Ser1188Leu) rs1057520181 0.00001
NM_000138.5(FBN1):c.3570C>T (p.Pro1190=) rs188317014 0.00001
NM_000138.5(FBN1):c.3571G>A (p.Asp1191Asn) rs370121450 0.00001
NM_000138.5(FBN1):c.3592A>G (p.Ile1198Val) rs370572503 0.00001
NM_000138.5(FBN1):c.3593T>C (p.Ile1198Thr) rs755375255 0.00001
NM_000138.5(FBN1):c.3654C>T (p.Ser1218=) rs760712674 0.00001
NM_000138.5(FBN1):c.365G>A (p.Arg122His) rs1010750845 0.00001
NM_000138.5(FBN1):c.3674C>T (p.Pro1225Leu) rs775532488 0.00001
NM_000138.5(FBN1):c.3688A>C (p.Met1230Leu) rs759424465 0.00001
NM_000138.5(FBN1):c.3689T>C (p.Met1230Thr) rs774003646 0.00001
NM_000138.5(FBN1):c.3693T>C (p.Pro1231=) rs1364910158 0.00001
NM_000138.5(FBN1):c.370A>G (p.Met124Val) rs764224168 0.00001
NM_000138.5(FBN1):c.3711C>T (p.Thr1237=) rs536369260 0.00001
NM_000138.5(FBN1):c.3713-5T>C rs1412125032 0.00001
NM_000138.5(FBN1):c.3717C>T (p.Ile1239=) rs759387957 0.00001
NM_000138.5(FBN1):c.3718G>A (p.Asp1240Asn) rs573187346 0.00001
NM_000138.5(FBN1):c.3740A>T (p.Asn1247Ile) rs568625812 0.00001
NM_000138.5(FBN1):c.3762C>T (p.Cys1254=) rs1555398286 0.00001
NM_000138.5(FBN1):c.3797A>T (p.Tyr1266Phe) rs200283837 0.00001
NM_000138.5(FBN1):c.3811G>A (p.Ala1271Thr) rs993279983 0.00001
NM_000138.5(FBN1):c.3834T>C (p.Cys1278=) rs886039492 0.00001
NM_000138.5(FBN1):c.3845A>G (p.Asn1282Ser) rs140647 0.00001
NM_000138.5(FBN1):c.3897G>A (p.Thr1299=) rs771283158 0.00001
NM_000138.5(FBN1):c.392A>G (p.Asp131Gly) rs1655998227 0.00001
NM_000138.5(FBN1):c.3931T>A (p.Tyr1311Asn) rs1406315227 0.00001
NM_000138.5(FBN1):c.393C>T (p.Asp131=) rs549054625 0.00001
NM_000138.5(FBN1):c.3969C>T (p.Ile1323=) rs536546914 0.00001
NM_000138.5(FBN1):c.4012G>A (p.Val1338Ile) rs1416288007 0.00001
NM_000138.5(FBN1):c.4056C>T (p.Pro1352=) rs766969494 0.00001
NM_000138.5(FBN1):c.4057G>A (p.Gly1353Arg) rs187177496 0.00001
NM_000138.5(FBN1):c.4059G>T (p.Gly1353=) rs886038250 0.00001
NM_000138.5(FBN1):c.4075A>G (p.Ile1359Val) rs202192505 0.00001
NM_000138.5(FBN1):c.4087+6T>A rs746201265 0.00001
NM_000138.5(FBN1):c.4089T>C (p.Asp1363=) rs751099175 0.00001
NM_000138.5(FBN1):c.4106A>G (p.Asn1369Ser) rs370923981 0.00001
NM_000138.5(FBN1):c.4161C>T (p.Tyr1387=) rs1332403498 0.00001
NM_000138.5(FBN1):c.4170G>A (p.Leu1390=) rs1229052328 0.00001
NM_000138.5(FBN1):c.4211-18G>A rs532573637 0.00001
NM_000138.5(FBN1):c.4218T>C (p.Asp1406=) rs759712586 0.00001
NM_000138.5(FBN1):c.4250A>G (p.Asn1417Ser) rs768531262 0.00001
NM_000138.5(FBN1):c.4251T>C (p.Asn1417=) rs1428390270 0.00001
NM_000138.5(FBN1):c.426G>A (p.Gly142=) rs1391070461 0.00001
NM_000138.5(FBN1):c.4272A>G (p.Pro1424=) rs1187173937 0.00001
NM_000138.5(FBN1):c.4282C>T (p.Arg1428Cys) rs1258352189 0.00001
NM_000138.5(FBN1):c.4283G>A (p.Arg1428His) rs778219976 0.00001
NM_000138.5(FBN1):c.4294G>A (p.Asp1432Asn) rs778145681 0.00001
NM_000138.5(FBN1):c.4306G>A (p.Val1436Met) rs377338217 0.00001
NM_000138.5(FBN1):c.4312A>G (p.Ser1438Gly) rs1309215883 0.00001
NM_000138.5(FBN1):c.4313G>A (p.Ser1438Asn) rs587782945 0.00001
NM_000138.5(FBN1):c.4320C>T (p.Asp1440=) rs375157552 0.00001
NM_000138.5(FBN1):c.4336+10G>C rs1475499953 0.00001
NM_000138.5(FBN1):c.4337-6C>G rs1225924246 0.00001
NM_000138.5(FBN1):c.4359G>A (p.Pro1453=) rs748551052 0.00001
NM_000138.5(FBN1):c.4401G>T (p.Leu1467=) rs747377334 0.00001
NM_000138.5(FBN1):c.442+17T>A rs779385878 0.00001
NM_000138.5(FBN1):c.4428C>T (p.Tyr1476=) rs767462642 0.00001
NM_000138.5(FBN1):c.442C>T (p.Pro148Ser) rs780624885 0.00001
NM_000138.5(FBN1):c.4444G>A (p.Gly1482Ser) rs762532435 0.00001
NM_000138.5(FBN1):c.4446C>T (p.Gly1482=) rs772727859 0.00001
NM_000138.5(FBN1):c.4460-8G>A rs193922204 0.00001
NM_000138.5(FBN1):c.4492A>G (p.Ile1498Val) rs761187818 0.00001
NM_000138.5(FBN1):c.4527T>C (p.Tyr1509=) rs776021250 0.00001
NM_000138.5(FBN1):c.4541C>T (p.Pro1514Leu) rs746205136 0.00001
NM_000138.5(FBN1):c.4568G>A (p.Arg1523Gln) rs201546777 0.00001
NM_000138.5(FBN1):c.4581T>C (p.Val1527=) rs2043340510 0.00001
NM_000138.5(FBN1):c.4583-5A>C rs778966916 0.00001
NM_000138.5(FBN1):c.4598A>G (p.Asn1533Ser) rs1254024310 0.00001
NM_000138.5(FBN1):c.4622G>A (p.Arg1541Gln) rs753491504 0.00001
NM_000138.5(FBN1):c.465C>A (p.Leu155=) rs1287033860 0.00001
NM_000138.5(FBN1):c.4695T>A (p.Ser1565=) rs1891548285 0.00001
NM_000138.5(FBN1):c.4707C>G (p.Ala1569=) rs397515813 0.00001
NM_000138.5(FBN1):c.4718C>T (p.Pro1573Leu) rs1286993730 0.00001
NM_000138.5(FBN1):c.4736C>T (p.Ala1579Val) rs772009116 0.00001
NM_000138.5(FBN1):c.4747+7G>A rs967122284 0.00001
NM_000138.5(FBN1):c.4747T>G (p.Ser1583Ala) rs959567666 0.00001
NM_000138.5(FBN1):c.4748-9T>C rs760640909 0.00001
NM_000138.5(FBN1):c.4772G>A (p.Gly1591Glu) rs772818208 0.00001
NM_000138.5(FBN1):c.4802C>A (p.Thr1601Asn) rs1363357978 0.00001
NM_000138.5(FBN1):c.4816+14C>T rs572479986 0.00001
NM_000138.5(FBN1):c.4817-10A>G rs368644662 0.00001
NM_000138.5(FBN1):c.4824T>C (p.Asp1608=) rs1057521341 0.00001
NM_000138.5(FBN1):c.484G>A (p.Ala162Thr) rs193922210 0.00001
NM_000138.5(FBN1):c.4895G>A (p.Arg1632His) rs756227025 0.00001
NM_000138.5(FBN1):c.4906G>A (p.Gly1636Ser) rs767451077 0.00001
NM_000138.5(FBN1):c.4913A>C (p.Tyr1638Ser) rs374520085 0.00001
NM_000138.5(FBN1):c.4926T>C (p.Asp1642=) rs140629 0.00001
NM_000138.5(FBN1):c.4931G>A (p.Arg1644Gln) rs768366890 0.00001
NM_000138.5(FBN1):c.4943-3T>C rs367594261 0.00001
NM_000138.5(FBN1):c.494G>A (p.Arg165Gln) rs1060501079 0.00001
NM_000138.5(FBN1):c.5007C>T (p.Asn1669=) rs1267512714 0.00001
NM_000138.5(FBN1):c.5086T>C (p.Tyr1696His) rs373320952 0.00001
NM_000138.5(FBN1):c.509A>G (p.Tyr170Cys) rs1228647846 0.00001
NM_000138.5(FBN1):c.5142G>A (p.Met1714Ile) rs368287795 0.00001
NM_000138.5(FBN1):c.5147A>T (p.Lys1716Met) rs2043292832 0.00001
NM_000138.5(FBN1):c.5184G>A (p.Ala1728=) rs754660497 0.00001
NM_000138.5(FBN1):c.5225-19C>T rs375761937 0.00001
NM_000138.5(FBN1):c.5225-7A>G rs761196321 0.00001
NM_000138.5(FBN1):c.5268C>A (p.Val1756=) rs764685311 0.00001
NM_000138.5(FBN1):c.5283C>T (p.Thr1761=) rs373887214 0.00001
NM_000138.5(FBN1):c.5293G>A (p.Val1765Ile) rs2043270857 0.00001
NM_000138.5(FBN1):c.5296+13G>A rs781168268 0.00001
NM_000138.5(FBN1):c.5304T>A (p.Asp1768Glu) rs867058901 0.00001
NM_000138.5(FBN1):c.5312G>A (p.Arg1771Gln) rs759791896 0.00001
NM_000138.5(FBN1):c.5340A>C (p.Gly1780=) rs766501385 0.00001
NM_000138.5(FBN1):c.5347A>T (p.Ile1783Phe) rs1232797551 0.00001
NM_000138.5(FBN1):c.5423-15C>A rs1426894149 0.00001
NM_000138.5(FBN1):c.5430C>T (p.Asp1810=) rs765338162 0.00001
NM_000138.5(FBN1):c.5441A>G (p.Asn1814Ser) rs775463311 0.00001
NM_000138.5(FBN1):c.5449G>A (p.Val1817Met) rs757901214 0.00001
NM_000138.5(FBN1):c.5459G>A (p.Arg1820His) rs1340155407 0.00001
NM_000138.5(FBN1):c.5464G>A (p.Ala1822Thr) rs777539060 0.00001
NM_000138.5(FBN1):c.5471G>A (p.Cys1824Tyr) rs1597537858 0.00001
NM_000138.5(FBN1):c.5481T>G (p.Thr1827=) rs1261752884 0.00001
NM_000138.5(FBN1):c.5511C>T (p.Pro1837=) rs372767912 0.00001
NM_000138.5(FBN1):c.5512G>A (p.Gly1838Ser) rs397515823 0.00001
NM_000138.5(FBN1):c.5545+10G>C rs1231571005 0.00001
NM_000138.5(FBN1):c.5546-4A>C rs919423974 0.00001
NM_000138.5(FBN1):c.5548C>T (p.Arg1850Cys) rs750720912 0.00001
NM_000138.5(FBN1):c.5549G>A (p.Arg1850His) rs779174265 0.00001
NM_000138.5(FBN1):c.5582G>A (p.Ser1861Asn) rs766358553 0.00001
NM_000138.5(FBN1):c.5585A>G (p.His1862Arg) rs976161721 0.00001
NM_000138.5(FBN1):c.5596A>G (p.Ile1866Val) rs367586350 0.00001
NM_000138.5(FBN1):c.5603C>T (p.Thr1868Ile) rs145082616 0.00001
NM_000138.5(FBN1):c.5630A>G (p.His1877Arg) rs746473206 0.00001
NM_000138.5(FBN1):c.5671+11_5671+13dup rs779987733 0.00001
NM_000138.5(FBN1):c.573C>T (p.Ser191=) rs749627551 0.00001
NM_000138.5(FBN1):c.5753A>G (p.His1918Arg) rs993464239 0.00001
NM_000138.5(FBN1):c.5771A>G (p.His1924Arg) rs748230405 0.00001
NM_000138.5(FBN1):c.5776A>G (p.Asn1926Asp) rs1060501097 0.00001
NM_000138.5(FBN1):c.5776_5778del (p.Asn1926del) rs886038964 0.00001
NM_000138.5(FBN1):c.5788+5G>A rs193922219 0.00001
NM_000138.5(FBN1):c.5805A>C (p.Ala1935=) rs755825254 0.00001
NM_000138.5(FBN1):c.5817G>A (p.Gly1939=) rs767097888 0.00001
NM_000138.5(FBN1):c.5875A>G (p.Asn1959Asp) rs956702513 0.00001
NM_000138.5(FBN1):c.5876A>G (p.Asn1959Ser) rs773486280 0.00001
NM_000138.5(FBN1):c.590G>A (p.Gly197Glu) rs895824095 0.00001
NM_000138.5(FBN1):c.5977G>A (p.Asp1993Asn) rs377671719 0.00001
NM_000138.5(FBN1):c.598A>G (p.Ser200Gly) rs1057036462 0.00001
NM_000138.5(FBN1):c.5991A>G (p.Arg1997=) rs201346996 0.00001
NM_000138.5(FBN1):c.6001C>T (p.Pro2001Ser) rs921321822 0.00001
NM_000138.5(FBN1):c.6025G>A (p.Glu2009Lys) rs773204216 0.00001
NM_000138.5(FBN1):c.6038-18C>T rs767567399 0.00001
NM_000138.5(FBN1):c.6038-8T>A rs569460847 0.00001
NM_000138.5(FBN1):c.6043G>A (p.Asp2015Asn) rs768457461 0.00001
NM_000138.5(FBN1):c.6099A>G (p.Glu2033=) rs1397665480 0.00001
NM_000138.5(FBN1):c.610T>C (p.Cys204Arg) rs2044026132 0.00001
NM_000138.5(FBN1):c.6110A>G (p.Lys2037Arg) rs556131403 0.00001
NM_000138.5(FBN1):c.6113G>A (p.Cys2038Tyr) rs363804 0.00001
NM_000138.5(FBN1):c.6147T>C (p.Ser2049=) rs553959381 0.00001
NM_000138.5(FBN1):c.6163+2dup rs794728315 0.00001
NM_000138.5(FBN1):c.6163+9C>G rs547396976 0.00001
NM_000138.5(FBN1):c.6187G>A (p.Ala2063Thr) rs1316593215 0.00001
NM_000138.5(FBN1):c.6196G>A (p.Glu2066Lys) rs1219570062 0.00001
NM_000138.5(FBN1):c.6231T>C (p.Asn2077=) rs2043085335 0.00001
NM_000138.5(FBN1):c.6289G>A (p.Glu2097Lys) rs397515831 0.00001
NM_000138.5(FBN1):c.6315G>A (p.Glu2105=) rs1478813051 0.00001
NM_000138.5(FBN1):c.6323G>A (p.Arg2108His) rs762659907 0.00001
NM_000138.5(FBN1):c.6336T>C (p.Pro2112=) rs772876451 0.00001
NM_000138.5(FBN1):c.6354C>T (p.Ile2118=) rs112989722 0.00001
NM_000138.5(FBN1):c.6379+17G>A rs1432052846 0.00001
NM_000138.5(FBN1):c.6380-19T>A rs764874493 0.00001
NM_000138.5(FBN1):c.639C>T (p.Val213=) rs543984363 0.00001
NM_000138.5(FBN1):c.6402C>T (p.Pro2134=) rs772439885 0.00001
NM_000138.5(FBN1):c.6403G>A (p.Asp2135Asn) rs746167150 0.00001
NM_000138.5(FBN1):c.6416A>G (p.His2139Arg) rs794728248 0.00001
NM_000138.5(FBN1):c.6417T>C (p.His2139=) rs551162566 0.00001
NM_000138.5(FBN1):c.6438T>C (p.Asp2146=) rs1398482166 0.00001
NM_000138.5(FBN1):c.643C>G (p.Arg215Gly) rs111687884 0.00001
NM_000138.5(FBN1):c.6448C>T (p.Arg2150Cys) rs76702162 0.00001
NM_000138.5(FBN1):c.644G>A (p.Arg215Gln) rs753703844 0.00001
NM_000138.5(FBN1):c.6454G>A (p.Glu2152Lys) rs777877864 0.00001
NM_000138.5(FBN1):c.6461C>G (p.Pro2154Arg) rs756219617 0.00001
NM_000138.5(FBN1):c.6496+3G>A rs750222196 0.00001
NM_000138.5(FBN1):c.6497-12G>C rs369726558 0.00001
NM_000138.5(FBN1):c.6499A>C (p.Thr2167Pro) rs373510719 0.00001
NM_000138.5(FBN1):c.654C>G (p.Gly218=) rs375181377 0.00001
NM_000138.5(FBN1):c.6559G>A (p.Gly2187Ser) rs760055383 0.00001
NM_000138.5(FBN1):c.6560G>A (p.Gly2187Asp) rs2043050989 0.00001
NM_000138.5(FBN1):c.6595G>A (p.Gly2199Ser) rs770132403 0.00001
NM_000138.5(FBN1):c.6601A>G (p.Met2201Val) rs776823384 0.00001
NM_000138.5(FBN1):c.6609A>G (p.Thr2203=) rs547573220 0.00001
NM_000138.5(FBN1):c.6616+8T>A rs371898247 0.00001
NM_000138.5(FBN1):c.6617-11C>A rs932325724 0.00001
NM_000138.5(FBN1):c.6659G>A (p.Arg2220Gln) rs780651466 0.00001
NM_000138.5(FBN1):c.6675T>C (p.Tyr2225=) rs1260533788 0.00001
NM_000138.5(FBN1):c.6709G>A (p.Val2237Met) rs764218640 0.00001
NM_000138.5(FBN1):c.6724C>T (p.Arg2242Cys) rs779749926 0.00001
NM_000138.5(FBN1):c.6739+10C>T rs1179540326 0.00001
NM_000138.5(FBN1):c.6745G>A (p.Asp2249Asn) rs746666535 0.00001
NM_000138.5(FBN1):c.6768T>C (p.His2256=) rs1047633779 0.00001
NM_000138.5(FBN1):c.6772T>G (p.Cys2258Gly) rs1057520617 0.00001
NM_000138.5(FBN1):c.6783A>C (p.Lys2261Asn) rs771716423 0.00001
NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr) rs193922228 0.00001
NM_000138.5(FBN1):c.6835G>A (p.Gly2279Arg) rs759674700 0.00001
NM_000138.5(FBN1):c.6845G>A (p.Arg2282Gln) rs759696323 0.00001
NM_000138.5(FBN1):c.6859G>C (p.Glu2287Gln) rs551736585 0.00001
NM_000138.5(FBN1):c.6871+12C>A rs770526904 0.00001
NM_000138.5(FBN1):c.687C>G (p.His229Gln) rs1391600366 0.00001
NM_000138.5(FBN1):c.6891G>A (p.Thr2297=) rs764092264 0.00001
NM_000138.5(FBN1):c.6916C>T (p.Arg2306Cys) rs1318405523 0.00001
NM_000138.5(FBN1):c.6917G>A (p.Arg2306His) rs770443276 0.00001
NM_000138.5(FBN1):c.6932G>A (p.Arg2311His) rs141868829 0.00001
NM_000138.5(FBN1):c.6969C>T (p.Thr2323=) rs773655866 0.00001
NM_000138.5(FBN1):c.6970G>A (p.Ala2324Thr) rs148831709 0.00001
NM_000138.5(FBN1):c.6988G>A (p.Glu2330Lys) rs1042807324 0.00001
NM_000138.5(FBN1):c.6997+15C>T rs1453967282 0.00001
NM_000138.5(FBN1):c.6997+3G>A rs1270425478 0.00001
NM_000138.5(FBN1):c.7057A>G (p.Ser2353Gly) rs886042199 0.00001
NM_000138.5(FBN1):c.7071C>T (p.Pro2357=) rs397515843 0.00001
NM_000138.5(FBN1):c.7082C>T (p.Ser2361Leu) rs397515844 0.00001
NM_000138.5(FBN1):c.7083G>A (p.Ser2361=) rs1597517953 0.00001
NM_000138.5(FBN1):c.7181G>A (p.Arg2394Gln) rs199750146 0.00001
NM_000138.5(FBN1):c.7183G>A (p.Gly2395Arg) rs1448650040 0.00001
NM_000138.5(FBN1):c.7189A>G (p.Met2397Val) rs774698871 0.00001
NM_000138.5(FBN1):c.7196A>G (p.Asn2399Ser) rs1428791574 0.00001
NM_000138.5(FBN1):c.7204+6T>G rs534417939 0.00001
NM_000138.5(FBN1):c.7209C>T (p.Ile2403=) rs767903343 0.00001
NM_000138.5(FBN1):c.7228C>T (p.His2410Tyr) rs548057493 0.00001
NM_000138.5(FBN1):c.722C>T (p.Thr241Met) rs747049980 0.00001
NM_000138.5(FBN1):c.7257C>T (p.Val2419=) rs745715311 0.00001
NM_000138.5(FBN1):c.7272A>G (p.Ser2424=) rs1259699671 0.00001
NM_000138.5(FBN1):c.7317G>C (p.Gly2439=) rs766871786 0.00001
NM_000138.5(FBN1):c.7330+10T>G rs375569743 0.00001
NM_000138.5(FBN1):c.7330+4A>G rs750677373 0.00001
NM_000138.5(FBN1):c.7330+5G>A rs1330909386 0.00001
NM_000138.5(FBN1):c.7330+7G>A rs765544479 0.00001
NM_000138.5(FBN1):c.7335G>T (p.Leu2445=) rs754460527 0.00001
NM_000138.5(FBN1):c.7339G>A (p.Glu2447Lys) rs137854464 0.00001
NM_000138.5(FBN1):c.736+10G>T rs1183919688 0.00001
NM_000138.5(FBN1):c.736+8C>T rs753703175 0.00001
NM_000138.5(FBN1):c.7360C>A (p.Pro2454Thr) rs1166405014 0.00001
NM_000138.5(FBN1):c.7361C>T (p.Pro2454Leu) rs1555394410 0.00001
NM_000138.5(FBN1):c.7413G>A (p.Pro2471=) rs769588855 0.00001
NM_000138.5(FBN1):c.7521C>T (p.Phe2507=) rs111895751 0.00001
NM_000138.5(FBN1):c.7529A>G (p.Lys2510Arg) rs767602851 0.00001
NM_000138.5(FBN1):c.7539C>T (p.Pro2513=) rs144713268 0.00001
NM_000138.5(FBN1):c.7559C>T (p.Thr2520Met) rs763759308 0.00001
NM_000138.5(FBN1):c.7567A>C (p.Ile2523Leu) rs199524640 0.00001
NM_000138.5(FBN1):c.756C>T (p.Ala252=) rs1398534692 0.00001
NM_000138.5(FBN1):c.7570+8G>A rs1215672755 0.00001
NM_000138.5(FBN1):c.7570+9G>A rs745370940 0.00001
NM_000138.5(FBN1):c.7571-7C>A rs1229246967 0.00001
NM_000138.5(FBN1):c.757A>G (p.Ile253Val) rs1422959121 0.00001
NM_000138.5(FBN1):c.7598A>G (p.Asn2533Ser) rs111231879 0.00001
NM_000138.5(FBN1):c.759C>T (p.Ile253=) rs1403909880 0.00001
NM_000138.5(FBN1):c.75G>A (p.Ala25=) rs543230518 0.00001
NM_000138.5(FBN1):c.7602G>A (p.Leu2534=) rs1392530685 0.00001
NM_000138.5(FBN1):c.7605C>T (p.Cys2535=) rs113544411 0.00001
NM_000138.5(FBN1):c.7617C>T (p.Gly2539=) rs1388794275 0.00001
NM_000138.5(FBN1):c.762C>T (p.Pro254=) rs374318726 0.00001
NM_000138.5(FBN1):c.7632T>C (p.Thr2544=) rs1409771185 0.00001
NM_000138.5(FBN1):c.763G>A (p.Gly255Arg) rs781113082 0.00001
NM_000138.5(FBN1):c.7647C>T (p.Thr2549=) rs1184032259 0.00001
NM_000138.5(FBN1):c.7700-20T>C rs747269059 0.00001
NM_000138.5(FBN1):c.7702G>A (p.Val2568Met) rs138558987 0.00001
NM_000138.5(FBN1):c.7707C>T (p.Asp2569=) rs756093148 0.00001
NM_000138.5(FBN1):c.776G>A (p.Gly259Glu) rs751169871 0.00001
NM_000138.5(FBN1):c.7773C>T (p.Ser2591=) rs764526450 0.00001
NM_000138.5(FBN1):c.7819+9C>T rs971180549 0.00001
NM_000138.5(FBN1):c.7836C>T (p.Leu2612=) rs756689495 0.00001
NM_000138.5(FBN1):c.7839C>T (p.Ser2613=) rs193922238 0.00001
NM_000138.5(FBN1):c.7848C>G (p.Ile2616Met) rs138184493 0.00001
NM_000138.5(FBN1):c.7875C>T (p.Thr2625=) rs1344417150 0.00001
NM_000138.5(FBN1):c.7903G>A (p.Ala2635Thr) rs746859988 0.00001
NM_000138.5(FBN1):c.7906G>A (p.Gly2636Ser) rs112566465 0.00001
NM_000138.5(FBN1):c.7916A>G (p.Tyr2639Cys) rs794728280 0.00001
NM_000138.5(FBN1):c.7929T>C (p.Ser2643=) rs745524158 0.00001
NM_000138.5(FBN1):c.7949A>G (p.Asn2650Ser) rs756819682 0.00001
NM_000138.5(FBN1):c.7968G>A (p.Gln2656=) rs753203216 0.00001
NM_000138.5(FBN1):c.7971C>A (p.Ala2657=) rs2042897134 0.00001
NM_000138.5(FBN1):c.7998C>T (p.Thr2666=) rs1374170310 0.00001
NM_000138.5(FBN1):c.8026C>T (p.Pro2676Ser) rs745650955 0.00001
NM_000138.5(FBN1):c.8029G>A (p.Gly2677Ser) rs1566889839 0.00001
NM_000138.5(FBN1):c.8039G>A (p.Arg2680His) rs748934203 0.00001
NM_000138.5(FBN1):c.8049A>G (p.Gln2683=) rs1208510012 0.00001
NM_000138.5(FBN1):c.8051+20G>T rs781718760 0.00001
NM_000138.5(FBN1):c.8051+5G>A rs767384075 0.00001
NM_000138.5(FBN1):c.8051+7A>G rs755589553 0.00001
NM_000138.5(FBN1):c.8052-20A>G rs939834412 0.00001
NM_000138.5(FBN1):c.8123A>G (p.Asn2708Ser) rs759494825 0.00001
NM_000138.5(FBN1):c.814A>C (p.Lys272Gln) rs762276905 0.00001
NM_000138.5(FBN1):c.8177G>A (p.Arg2726Gln) rs552157433 0.00001
NM_000138.5(FBN1):c.8189G>A (p.Arg2730Gln) rs200231626 0.00001
NM_000138.5(FBN1):c.8198C>G (p.Thr2733Arg) rs794728340 0.00001
NM_000138.5(FBN1):c.8199A>T (p.Thr2733=) rs1372383251 0.00001
NM_000138.5(FBN1):c.8218A>G (p.Asn2740Asp) rs397515860 0.00001
NM_000138.5(FBN1):c.8223C>T (p.Ile2741=) rs150065311 0.00001
NM_000138.5(FBN1):c.8227-3C>T rs200822151 0.00001
NM_000138.5(FBN1):c.8257C>G (p.Leu2753Val) rs1253681259 0.00001
NM_000138.5(FBN1):c.8261C>T (p.Ala2754Val) rs1372306620 0.00001
NM_000138.5(FBN1):c.826G>A (p.Gly276Arg) rs1220647446 0.00001
NM_000138.5(FBN1):c.8287A>G (p.Ile2763Val) rs775172479 0.00001
NM_000138.5(FBN1):c.8295T>A (p.Ala2765=) rs1417594908 0.00001
NM_000138.5(FBN1):c.8314A>G (p.Ser2772Gly) rs778014965 0.00001
NM_000138.5(FBN1):c.8326C>T (p.Arg2776Ter) rs137854466 0.00001
NM_000138.5(FBN1):c.8331C>G (p.Ile2777Met) rs1427984176 0.00001
NM_000138.5(FBN1):c.8364G>A (p.Thr2788=) rs112945086 0.00001
NM_000138.5(FBN1):c.8418C>G (p.Ile2806Met) rs1480715909 0.00001
NM_000138.5(FBN1):c.8449T>G (p.Phe2817Val) rs148741353 0.00001
NM_000138.5(FBN1):c.8466A>G (p.Pro2822=) rs147279938 0.00001
NM_000138.5(FBN1):c.8494A>G (p.Ser2832Gly) rs376933421 0.00001
NM_000138.5(FBN1):c.8509T>C (p.Tyr2837His) rs1306203757 0.00001
NM_000138.5(FBN1):c.8524C>T (p.Leu2842Phe) rs755903722 0.00001
NM_000138.5(FBN1):c.8537A>G (p.Glu2846Gly) rs754570125 0.00001
NM_000138.5(FBN1):c.8551A>G (p.Lys2851Glu) rs371939796 0.00001
NM_000138.5(FBN1):c.855A>G (p.Lys285=) rs1272913373 0.00001
NM_000138.5(FBN1):c.8598C>A (p.Ile2866=) rs1566888537 0.00001
NM_000138.5(FBN1):c.8606T>C (p.Leu2869Ser) rs363848 0.00001
NM_000138.5(FBN1):c.863A>G (p.Asp288Gly) rs565078451 0.00001
NM_000138.5(FBN1):c.876C>T (p.Cys292=) rs1286340387 0.00001
NM_000138.5(FBN1):c.913A>G (p.Thr305Ala) rs758035051 0.00001
NM_000138.5(FBN1):c.91G>A (p.Ala31Thr) rs371130701 0.00001
NM_000138.5(FBN1):c.921A>C (p.Thr307=) rs1341105449 0.00001
NM_000138.5(FBN1):c.954T>A (p.Gly318=) rs753055657 0.00001
NM_000138.5(FBN1):c.963C>T (p.Thr321=) rs767914958 0.00001
NM_000138.5(FBN1):c.969A>G (p.Pro323=) rs759743242 0.00001
NM_000138.5(FBN1):c.987A>G (p.Ile329Met) rs1289726476 0.00001
NM_000138.5(FBN1):c.988+17A>G rs778476790 0.00001
NM_000138.5(FBN1):c.989-10T>C rs774104217 0.00001
NM_000138.5(FBN1):c.989-18G>A rs759275834 0.00001
NM_000138.5(FBN1):c.994C>T (p.Arg332Cys) rs1161109360 0.00001
NM_000138.5(FBN1):c.995G>A (p.Arg332His) rs748929044 0.00001
NM_001032283.3(TMPO):c.108G>T (p.Val36=) rs532884813 0.00001
NM_001032283.3(TMPO):c.133C>T (p.Leu45Phe) rs1490105931 0.00001
NM_001032283.3(TMPO):c.154C>T (p.Pro52Ser) rs767796798 0.00001
NM_001032283.3(TMPO):c.176G>C (p.Ser59Thr) rs987636941 0.00001
NM_001032283.3(TMPO):c.183G>A (p.Gly61=) rs780119963 0.00001
NM_001032283.3(TMPO):c.219C>G (p.Pro73=) rs1464689689 0.00001
NM_001032283.3(TMPO):c.228C>T (p.Val76=) rs760772599 0.00001
NM_001032283.3(TMPO):c.238G>A (p.Gly80Arg) rs780142223 0.00001
NM_001032283.3(TMPO):c.263G>A (p.Arg88Gln) rs774853700 0.00001
NM_001032283.3(TMPO):c.279+11G>C rs772520813 0.00001
NM_001032283.3(TMPO):c.289A>G (p.Lys97Glu) rs778356103 0.00001
NM_001032283.3(TMPO):c.296C>G (p.Thr99Ser) rs529351559 0.00001
NM_001032283.3(TMPO):c.328C>T (p.Leu110=) rs1302280025 0.00001
NM_001032283.3(TMPO):c.382G>A (p.Gly128Arg) rs200943582 0.00001
NM_001032283.3(TMPO):c.392C>G (p.Pro131Arg) rs1001615865 0.00001
NM_001032283.3(TMPO):c.476C>T (p.Ser159Phe) rs183244086 0.00001
NM_001032283.3(TMPO):c.517A>G (p.Arg173Gly) rs1430201856 0.00001
NM_001032283.3(TMPO):c.557A>G (p.Asn186Ser) rs200923649 0.00001
NM_001032283.3(TMPO):c.565+1053A>G rs769778970 0.00001
NM_001032283.3(TMPO):c.565+1084T>A rs767247716 0.00001
NM_001032283.3(TMPO):c.565+1103C>T rs188308994 0.00001
NM_001032283.3(TMPO):c.565+1104A>C rs764732034 0.00001
NM_001032283.3(TMPO):c.565+1128G>A rs770791830 0.00001
NM_001032283.3(TMPO):c.565+1137G>A rs375903462 0.00001
NM_001032283.3(TMPO):c.565+1155A>G rs1235766643 0.00001
NM_001032283.3(TMPO):c.565+1165G>C rs191275106 0.00001
NM_001032283.3(TMPO):c.565+1183C>T rs762263378 0.00001
NM_001032283.3(TMPO):c.565+1275A>G rs763320036 0.00001
NM_001032283.3(TMPO):c.565+1282T>C rs886049912 0.00001
NM_001032283.3(TMPO):c.565+1297C>T rs560525921 0.00001
NM_001032283.3(TMPO):c.565+1305T>G rs201730568 0.00001
NM_001032283.3(TMPO):c.565+1318A>G rs754640974 0.00001
NM_001032283.3(TMPO):c.565+1327T>C rs1325196944 0.00001
NM_001032283.3(TMPO):c.565+1346T>G rs774747367 0.00001
NM_001032283.3(TMPO):c.565+1384A>G rs766401550 0.00001
NM_001032283.3(TMPO):c.565+1390A>G rs780719278 0.00001
NM_001032283.3(TMPO):c.565+1409C>T rs371441559 0.00001
NM_001032283.3(TMPO):c.565+1468A>G rs202106275 0.00001
NM_001032283.3(TMPO):c.565+1471C>T rs779303657 0.00001
NM_001032283.3(TMPO):c.565+1485A>G rs730880229 0.00001
NM_001032283.3(TMPO):c.565+1499A>G rs776923796 0.00001
NM_001032283.3(TMPO):c.565+1532G>A rs1336852045 0.00001
NM_001032283.3(TMPO):c.565+1559T>C rs760459470 0.00001
NM_001032283.3(TMPO):c.565+1567C>T rs202166461 0.00001
NM_001032283.3(TMPO):c.565+1576T>C rs747232440 0.00001
NM_001032283.3(TMPO):c.565+1623C>G rs902009254 0.00001
NM_001032283.3(TMPO):c.565+1626C>G rs1555203864 0.00001
NM_001032283.3(TMPO):c.565+1648A>G rs1057524856 0.00001
NM_001032283.3(TMPO):c.565+1654T>C rs753527126 0.00001
NM_001032283.3(TMPO):c.565+1662T>G rs200367787 0.00001
NM_001032283.3(TMPO):c.565+1805A>C rs767027388 0.00001
NM_001032283.3(TMPO):c.565+1809G>A rs1450805694 0.00001
NM_001032283.3(TMPO):c.565+1907A>G rs372248802 0.00001
NM_001032283.3(TMPO):c.565+1911A>G rs754188509 0.00001
NM_001032283.3(TMPO):c.565+1949C>G rs750502531 0.00001
NM_001032283.3(TMPO):c.565+1968G>A rs1051007448 0.00001
NM_001032283.3(TMPO):c.565+1979T>C rs777452560 0.00001
NM_001032283.3(TMPO):c.565+1997G>A rs375056835 0.00001
NM_001032283.3(TMPO):c.565+2079C>T rs144269053 0.00001
NM_001032283.3(TMPO):c.565+2081A>G rs760171602 0.00001
NM_001032283.3(TMPO):c.565+2092C>A rs563175204 0.00001
NM_001032283.3(TMPO):c.565+2236C>G rs746645331 0.00001
NM_001032283.3(TMPO):c.565+2260C>T rs367769644 0.00001
NM_001032283.3(TMPO):c.565+2273G>A rs977042843 0.00001
NM_001032283.3(TMPO):c.565+2331A>G rs1319585944 0.00001
NM_001032283.3(TMPO):c.565+2347T>C rs1450811229 0.00001
NM_001032283.3(TMPO):c.565+2367C>T rs772424658 0.00001
NM_001032283.3(TMPO):c.565+2399T>A rs576517565 0.00001
NM_001032283.3(TMPO):c.565+2409T>G rs759247844 0.00001
NM_001032283.3(TMPO):c.565+2431C>G rs1435432542 0.00001
NM_001032283.3(TMPO):c.565+2488G>A rs779219922 0.00001
NM_001032283.3(TMPO):c.565+8T>C rs545742855 0.00001
NM_001032283.3(TMPO):c.565+999C>T rs138259721 0.00001
NM_001032283.3(TMPO):c.72T>C (p.Asn24=) rs201960762 0.00001
NM_001032283.3(TMPO):c.81G>T (p.Leu27=) rs549257131 0.00001
NM_001032283.3(TMPO):c.84G>A (p.Pro28=) rs199549942 0.00001
NM_001999.4(FBN2):c.1011C>T (p.Thr337=) rs781086796 0.00001
NM_001999.4(FBN2):c.1061A>G (p.Asp354Gly) rs761066631 0.00001
NM_001999.4(FBN2):c.1070G>A (p.Arg357Gln) rs773969876 0.00001
NM_001999.4(FBN2):c.1079-14T>G rs754310681 0.00001
NM_001999.4(FBN2):c.1120C>T (p.Arg374Cys) rs759013590 0.00001
NM_001999.4(FBN2):c.1143G>T (p.Gly381=) rs749428195 0.00001
NM_001999.4(FBN2):c.1151C>T (p.Thr384Met) rs371826887 0.00001
NM_001999.4(FBN2):c.1157T>C (p.Met386Thr) rs750949734 0.00001
NM_001999.4(FBN2):c.115C>G (p.Arg39Gly) rs763202121 0.00001
NM_001999.4(FBN2):c.1240C>T (p.Arg414Cys) rs1382726763 0.00001
NM_001999.4(FBN2):c.1260A>C (p.Gly420=) rs766241911 0.00001
NM_001999.4(FBN2):c.126G>A (p.Pro42=) rs771657289 0.00001
NM_001999.4(FBN2):c.1286G>T (p.Ser429Ile) rs749969520 0.00001
NM_001999.4(FBN2):c.1336G>A (p.Gly446Ser) rs1173562709 0.00001
NM_001999.4(FBN2):c.1338C>G (p.Gly446=) rs1060504933 0.00001
NM_001999.4(FBN2):c.1391G>A (p.Gly464Asp) rs748584140 0.00001
NM_001999.4(FBN2):c.1418G>A (p.Gly473Glu) rs376096770 0.00001
NM_001999.4(FBN2):c.1431G>A (p.Gly477=) rs759633050 0.00001
NM_001999.4(FBN2):c.1480A>T (p.Thr494Ser) rs200850552 0.00001
NM_001999.4(FBN2):c.14G>A (p.Arg5Gln) rs1194684025 0.00001
NM_001999.4(FBN2):c.1502A>C (p.His501Pro) rs773361111 0.00001
NM_001999.4(FBN2):c.1571G>T (p.Gly524Val) rs753734866 0.00001
NM_001999.4(FBN2):c.1603+7T>C rs1477450908 0.00001
NM_001999.4(FBN2):c.1616G>A (p.Cys539Tyr) rs1456682417 0.00001
NM_001999.4(FBN2):c.1671T>C (p.Tyr557=) rs1487989552 0.00001
NM_001999.4(FBN2):c.1716A>G (p.Ala572=) rs771782180 0.00001
NM_001999.4(FBN2):c.1724-6T>C rs1259657269 0.00001
NM_001999.4(FBN2):c.1724-7T>G rs1490528227 0.00001
NM_001999.4(FBN2):c.1765G>A (p.Gly589Ser) rs1057523294 0.00001
NM_001999.4(FBN2):c.1774G>T (p.Val592Leu) rs762427107 0.00001
NM_001999.4(FBN2):c.1776G>A (p.Val592=) rs775492838 0.00001
NM_001999.4(FBN2):c.1812C>T (p.Ala604=) rs745811885 0.00001
NM_001999.4(FBN2):c.1813G>A (p.Gly605Ser) rs863223553 0.00001
NM_001999.4(FBN2):c.1842C>T (p.Asn614=) rs968593645 0.00001
NM_001999.4(FBN2):c.1866A>G (p.Thr622=) rs1060504934 0.00001
NM_001999.4(FBN2):c.1884G>A (p.Leu628=) rs1237327921 0.00001
NM_001999.4(FBN2):c.1902T>C (p.Asn634=) rs553052214 0.00001
NM_001999.4(FBN2):c.1903G>A (p.Glu635Lys) rs138963610 0.00001
NM_001999.4(FBN2):c.2013G>A (p.Gly671=) rs778762668 0.00001
NM_001999.4(FBN2):c.2041C>T (p.Arg681Cys) rs750406193 0.00001
NM_001999.4(FBN2):c.2042G>A (p.Arg681His) rs548605398 0.00001
NM_001999.4(FBN2):c.2043C>T (p.Arg681=) rs1476851135 0.00001
NM_001999.4(FBN2):c.2083C>T (p.Arg695Cys) rs747447916 0.00001
NM_001999.4(FBN2):c.2084G>A (p.Arg695His) rs143722436 0.00001
NM_001999.4(FBN2):c.2096-13del rs746826953 0.00001
NM_001999.4(FBN2):c.2099C>T (p.Thr700Ile) rs773667668 0.00001
NM_001999.4(FBN2):c.2160C>T (p.Pro720=) rs889188442 0.00001
NM_001999.4(FBN2):c.2202C>T (p.Asp734=) rs1057470455 0.00001
NM_001999.4(FBN2):c.220G>A (p.Val74Ile) rs779812100 0.00001
NM_001999.4(FBN2):c.2259C>T (p.His753=) rs1751768248 0.00001
NM_001999.4(FBN2):c.2271T>C (p.Ser757=) rs1338036259 0.00001
NM_001999.4(FBN2):c.2283T>C (p.Gly761=) rs1235214641 0.00001
NM_001999.4(FBN2):c.2294A>G (p.Asp765Gly) rs1485036763 0.00001
NM_001999.4(FBN2):c.230G>T (p.Arg77Leu) rs889066564 0.00001
NM_001999.4(FBN2):c.2375G>A (p.Arg792His) rs374031658 0.00001
NM_001999.4(FBN2):c.2428+9T>C rs368374358 0.00001
NM_001999.4(FBN2):c.2429-11G>A rs201849584 0.00001
NM_001999.4(FBN2):c.2487G>T (p.Thr829=) rs779455710 0.00001
NM_001999.4(FBN2):c.2489C>T (p.Pro830Leu) rs547769591 0.00001
NM_001999.4(FBN2):c.2511C>T (p.Cys837=) rs756813212 0.00001
NM_001999.4(FBN2):c.2522A>G (p.Tyr841Cys) rs762606715 0.00001
NM_001999.4(FBN2):c.2554+18C>T rs778973357 0.00001
NM_001999.4(FBN2):c.2554+19G>A rs199897237 0.00001
NM_001999.4(FBN2):c.2565A>C (p.Glu855Asp) rs1751527556 0.00001
NM_001999.4(FBN2):c.257C>G (p.Pro86Arg) rs749819006 0.00001
NM_001999.4(FBN2):c.258C>T (p.Pro86=) rs780509984 0.00001
NM_001999.4(FBN2):c.2661A>G (p.Gly887=) rs774598529 0.00001
NM_001999.4(FBN2):c.2675-8C>G rs1451128883 0.00001
NM_001999.4(FBN2):c.2675A>G (p.Asp892Gly) rs863223558 0.00001
NM_001999.4(FBN2):c.2715C>T (p.Ser905=) rs998086640 0.00001
NM_001999.4(FBN2):c.2716C>T (p.Arg906Cys) rs763094104 0.00001
NM_001999.4(FBN2):c.2731A>G (p.Ile911Val) rs368766120 0.00001
NM_001999.4(FBN2):c.2740G>A (p.Ala914Thr) rs370312107 0.00001
NM_001999.4(FBN2):c.2777C>A (p.Ala926Asp) rs138429045 0.00001
NM_001999.4(FBN2):c.2813-12T>C rs1395669341 0.00001
NM_001999.4(FBN2):c.2855C>T (p.Thr952Met) rs766590294 0.00001
NM_001999.4(FBN2):c.2863+3G>A rs762144935 0.00001
NM_001999.4(FBN2):c.2864-12A>G rs1234935460 0.00001
NM_001999.4(FBN2):c.2874G>A (p.Glu958=) rs765859878 0.00001
NM_001999.4(FBN2):c.294C>T (p.Cys98=) rs765214316 0.00001
NM_001999.4(FBN2):c.2989+18A>T rs769856454 0.00001
NM_001999.4(FBN2):c.2990-13G>A rs375326505 0.00001
NM_001999.4(FBN2):c.29A>G (p.Gln10Arg) rs547410742 0.00001
NM_001999.4(FBN2):c.3046G>A (p.Val1016Ile) rs773235785 0.00001
NM_001999.4(FBN2):c.3054A>G (p.Gly1018=) rs1255532545 0.00001
NM_001999.4(FBN2):c.3106G>A (p.Glu1036Lys) rs773473369 0.00001
NM_001999.4(FBN2):c.3114G>C (p.Glu1038Asp) rs199938409 0.00001
NM_001999.4(FBN2):c.3145G>A (p.Glu1049Lys) rs771853346 0.00001
NM_001999.4(FBN2):c.3209T>A (p.Phe1070Tyr) rs139118782 0.00001
NM_001999.4(FBN2):c.3253A>C (p.Thr1085Pro) rs863223562 0.00001
NM_001999.4(FBN2):c.3277A>G (p.Ile1093Val) rs747248488 0.00001
NM_001999.4(FBN2):c.3280G>A (p.Gly1094Arg) rs758659538 0.00001
NM_001999.4(FBN2):c.3290A>C (p.Lys1097Thr) rs765437414 0.00001
NM_001999.4(FBN2):c.3304A>G (p.Ser1102Gly) rs761012607 0.00001
NM_001999.4(FBN2):c.3401C>T (p.Thr1134Ile) rs863223602 0.00001
NM_001999.4(FBN2):c.3420C>T (p.Cys1140=) rs756541654 0.00001
NM_001999.4(FBN2):c.3430G>A (p.Glu1144Lys) rs200060005 0.00001
NM_001999.4(FBN2):c.3483A>G (p.Glu1161=) rs761867143 0.00001
NM_001999.4(FBN2):c.3514G>A (p.Gly1172Ser) rs138303817 0.00001
NM_001999.4(FBN2):c.3521G>A (p.Cys1174Tyr) rs1581226080 0.00001
NM_001999.4(FBN2):c.3534G>C (p.Glu1178Asp) rs771385579 0.00001
NM_001999.4(FBN2):c.3559C>A (p.Leu1187Met) rs375710546 0.00001
NM_001999.4(FBN2):c.3563G>A (p.Gly1188Glu) rs748888503 0.00001
NM_001999.4(FBN2):c.3565C>T (p.His1189Tyr) rs779690646 0.00001
NM_001999.4(FBN2):c.3567C>T (p.His1189=) rs945523399 0.00001
NM_001999.4(FBN2):c.3568G>A (p.Glu1190Lys) rs755737169 0.00001
NM_001999.4(FBN2):c.3577C>T (p.Pro1193Ser) rs749905043 0.00001
NM_001999.4(FBN2):c.3581C>T (p.Ser1194Phe) rs914081385 0.00001
NM_001999.4(FBN2):c.3583C>T (p.Arg1195Cys) rs757232992 0.00001
NM_001999.4(FBN2):c.3609A>G (p.Glu1203=) rs941219425 0.00001
NM_001999.4(FBN2):c.3614C>T (p.Ser1205Phe) rs1389689622 0.00001
NM_001999.4(FBN2):c.3630C>G (p.Leu1210=) rs764902856 0.00001
NM_001999.4(FBN2):c.3660T>G (p.Ile1220Met) rs558632824 0.00001
NM_001999.4(FBN2):c.3675C>T (p.Cys1225=) rs141485941 0.00001
NM_001999.4(FBN2):c.3750C>T (p.Asn1250=) rs750559514 0.00001
NM_001999.4(FBN2):c.3751G>A (p.Gly1251Arg) rs1018550681 0.00001
NM_001999.4(FBN2):c.3877A>T (p.Ile1293Phe) rs1263059454 0.00001
NM_001999.4(FBN2):c.3889G>A (p.Gly1297Ser) rs755489065 0.00001
NM_001999.4(FBN2):c.3919C>T (p.Arg1307Cys) rs922751471 0.00001
NM_001999.4(FBN2):c.3925C>T (p.Leu1309Phe) rs763595235 0.00001
NM_001999.4(FBN2):c.3932A>G (p.Tyr1311Cys) rs762514246 0.00001
NM_001999.4(FBN2):c.3971T>C (p.Ile1324Thr) rs150872093 0.00001
NM_001999.4(FBN2):c.3984A>G (p.Glu1328=) rs1394998823 0.00001
NM_001999.4(FBN2):c.4011G>A (p.Met1337Ile) rs1231103337 0.00001
NM_001999.4(FBN2):c.4052A>G (p.His1351Arg) rs1039821634 0.00001
NM_001999.4(FBN2):c.4096A>G (p.Thr1366Ala) rs768722316 0.00001
NM_001999.4(FBN2):c.4124C>T (p.Ala1375Val) rs768753485 0.00001
NM_001999.4(FBN2):c.4134C>T (p.Cys1378=) rs775405425 0.00001
NM_001999.4(FBN2):c.413C>T (p.Ser138Leu) rs149305476 0.00001
NM_001999.4(FBN2):c.4208G>A (p.Gly1403Asp) rs750327890 0.00001
NM_001999.4(FBN2):c.4258A>G (p.Ser1420Gly) rs1407868144 0.00001
NM_001999.4(FBN2):c.4283C>A (p.Thr1428Asn) rs367961012 0.00001
NM_001999.4(FBN2):c.4287G>A (p.Pro1429=) rs761049150 0.00001
NM_001999.4(FBN2):c.4296C>T (p.Tyr1432=) rs147046215 0.00001
NM_001999.4(FBN2):c.42G>T (p.Leu14=) rs376407285 0.00001
NM_001999.4(FBN2):c.432A>G (p.Lys144=) rs201247200 0.00001
NM_001999.4(FBN2):c.4346-6G>T rs755217606 0.00001
NM_001999.4(FBN2):c.4352A>G (p.Asp1451Gly) rs766483687 0.00001
NM_001999.4(FBN2):c.4402G>A (p.Val1468Ile) rs199668238 0.00001
NM_001999.4(FBN2):c.4402G>T (p.Val1468Phe) rs199668238 0.00001
NM_001999.4(FBN2):c.4406C>T (p.Pro1469Leu) rs770606176 0.00001
NM_001999.4(FBN2):c.4407G>A (p.Pro1469=) rs546172367 0.00001
NM_001999.4(FBN2):c.4419C>T (p.Arg1473=) rs1750619535 0.00001
NM_001999.4(FBN2):c.4422C>T (p.Cys1474=) rs371629482 0.00001
NM_001999.4(FBN2):c.4453G>A (p.Asp1485Asn) rs187786356 0.00001
NM_001999.4(FBN2):c.4515A>G (p.Thr1505=) rs751938197 0.00001
NM_001999.4(FBN2):c.4585A>G (p.Asn1529Asp) rs1085307489 0.00001
NM_001999.4(FBN2):c.4595-19T>C rs201459526 0.00001
NM_001999.4(FBN2):c.4608T>C (p.Cys1536=) rs1176811808 0.00001
NM_001999.4(FBN2):c.460A>G (p.Met154Val) rs878854475 0.00001
NM_001999.4(FBN2):c.4690T>C (p.Leu1564=) rs886038504 0.00001
NM_001999.4(FBN2):c.4708G>T (p.Gly1570Cys) rs1554121027 0.00001
NM_001999.4(FBN2):c.472A>T (p.Thr158Ser) rs886059904 0.00001
NM_001999.4(FBN2):c.4751G>T (p.Gly1584Val) rs770269667 0.00001
NM_001999.4(FBN2):c.477T>C (p.Cys159=) rs138601900 0.00001
NM_001999.4(FBN2):c.4808G>A (p.Arg1603His) rs751661259 0.00001
NM_001999.4(FBN2):c.4864C>A (p.Pro1622Thr) rs750116860 0.00001
NM_001999.4(FBN2):c.4867C>G (p.Pro1623Ala) rs139830237 0.00001
NM_001999.4(FBN2):c.4879+7A>G rs555328744 0.00001
NM_001999.4(FBN2):c.488A>G (p.His163Arg) rs1029299660 0.00001
NM_001999.4(FBN2):c.4890C>T (p.Tyr1630=) rs1488160637 0.00001
NM_001999.4(FBN2):c.4949-5T>C rs1264068007 0.00001
NM_001999.4(FBN2):c.5015G>A (p.Ser1672Asn) rs1018411631 0.00001
NM_001999.4(FBN2):c.5074+5G>A rs374651068 0.00001
NM_001999.4(FBN2):c.5074+7T>C rs201951284 0.00001
NM_001999.4(FBN2):c.5075-4C>G rs779999668 0.00001
NM_001999.4(FBN2):c.5120C>T (p.Thr1707Ile) rs572030603 0.00001
NM_001999.4(FBN2):c.5174A>T (p.Gln1725Leu) rs1402545685 0.00001
NM_001999.4(FBN2):c.5201-3T>C rs1057521162 0.00001
NM_001999.4(FBN2):c.5224C>T (p.Arg1742Ter) rs1178371653 0.00001
NM_001999.4(FBN2):c.5225G>A (p.Arg1742Gln) rs774411234 0.00001
NM_001999.4(FBN2):c.522T>C (p.Tyr174=) rs573915338 0.00001
NM_001999.4(FBN2):c.5267A>G (p.Asn1756Ser) rs760065931 0.00001
NM_001999.4(FBN2):c.5295A>C (p.Thr1765=) rs941916367 0.00001
NM_001999.4(FBN2):c.52T>A (p.Cys18Ser) rs1033004512 0.00001
NM_001999.4(FBN2):c.5303T>C (p.Val1768Ala) rs779202876 0.00001
NM_001999.4(FBN2):c.533-4G>T rs372596001 0.00001
NM_001999.4(FBN2):c.5353+20A>G rs759401474 0.00001
NM_001999.4(FBN2):c.5354-14T>C rs756825167 0.00001
NM_001999.4(FBN2):c.5426T>C (p.Ile1809Thr) rs766034866 0.00001
NM_001999.4(FBN2):c.5427T>C (p.Ile1809=) rs756365546 0.00001
NM_001999.4(FBN2):c.5487C>T (p.Gly1829=) rs375136629 0.00001
NM_001999.4(FBN2):c.5539G>C (p.Val1847Leu) rs863223610 0.00001
NM_001999.4(FBN2):c.5549-8T>A rs1339062362 0.00001
NM_001999.4(FBN2):c.5587C>T (p.Arg1863Trp) rs1192632165 0.00001
NM_001999.4(FBN2):c.559G>A (p.Gly187Ser) rs773732645 0.00001
NM_001999.4(FBN2):c.5639C>T (p.Ala1880Val) rs779567163 0.00001
NM_001999.4(FBN2):c.5660A>G (p.Asn1887Ser) rs745759959 0.00001
NM_001999.4(FBN2):c.5682T>C (p.Asn1894=) rs991908659 0.00001
NM_001999.4(FBN2):c.5692G>A (p.Glu1898Lys) rs767932789 0.00001
NM_001999.4(FBN2):c.5701A>G (p.Asn1901Asp) rs1010422106 0.00001
NM_001999.4(FBN2):c.5710A>C (p.Ser1904Arg) rs1581202795 0.00001
NM_001999.4(FBN2):c.5731C>T (p.Leu1911=) rs768733086 0.00001
NM_001999.4(FBN2):c.573C>T (p.Ile191=) rs370698125 0.00001
NM_001999.4(FBN2):c.574G>A (p.Gly192Arg) rs376398925 0.00001
NM_001999.4(FBN2):c.5800+10G>A rs546373462 0.00001
NM_001999.4(FBN2):c.5801A>G (p.Asp1934Gly) rs1554119542 0.00001
NM_001999.4(FBN2):c.5834A>G (p.Asn1945Ser) rs863223578 0.00001
NM_001999.4(FBN2):c.5899C>T (p.His1967Tyr) rs369652475 0.00001
NM_001999.4(FBN2):c.5900A>G (p.His1967Arg) rs1314671452 0.00001
NM_001999.4(FBN2):c.5918-4A>G rs1382347293 0.00001
NM_001999.4(FBN2):c.5918-7C>G rs750463932 0.00001
NM_001999.4(FBN2):c.5921T>C (p.Ile1974Thr) rs1060503501 0.00001
NM_001999.4(FBN2):c.5965C>T (p.Arg1989Cys) rs758369648 0.00001
NM_001999.4(FBN2):c.5974A>G (p.Asn1992Asp) rs1437992406 0.00001
NM_001999.4(FBN2):c.6002G>A (p.Cys2001Tyr) rs878854476 0.00001
NM_001999.4(FBN2):c.6027A>G (p.Pro2009=) rs147474868 0.00001
NM_001999.4(FBN2):c.6033C>G (p.Gly2011=) rs749647897 0.00001
NM_001999.4(FBN2):c.6074G>A (p.Gly2025Asp) rs547583705 0.00001
NM_001999.4(FBN2):c.6093C>G (p.Thr2031=) rs1131691293 0.00001
NM_001999.4(FBN2):c.6140A>G (p.Tyr2047Cys) rs368453513 0.00001
NM_001999.4(FBN2):c.6148A>G (p.Lys2050Glu) rs863223611 0.00001
NM_001999.4(FBN2):c.617A>T (p.Gln206Leu) rs1207752455 0.00001
NM_001999.4(FBN2):c.61C>T (p.Leu21Phe) rs201321678 0.00001
NM_001999.4(FBN2):c.6205T>C (p.Phe2069Leu) rs1295335940 0.00001
NM_001999.4(FBN2):c.6292+7T>C rs775471488 0.00001
NM_001999.4(FBN2):c.6298C>T (p.Arg2100Cys) rs1425263303 0.00001
NM_001999.4(FBN2):c.6306C>T (p.Ser2102=) rs374717631 0.00001
NM_001999.4(FBN2):c.6438C>T (p.Asp2146=) rs772832233 0.00001
NM_001999.4(FBN2):c.6445+10A>G rs774706397 0.00001
NM_001999.4(FBN2):c.6445+11T>C rs766726816 0.00001
NM_001999.4(FBN2):c.6445G>A (p.Val2149Ile) rs1394667470 0.00001
NM_001999.4(FBN2):c.6450A>T (p.Ala2150=) rs1199375914 0.00001
NM_001999.4(FBN2):c.6477T>C (p.His2159=) rs768972914 0.00001
NM_001999.4(FBN2):c.6511+7T>C rs1201683263 0.00001
NM_001999.4(FBN2):c.6512-14G>A rs765303543 0.00001
NM_001999.4(FBN2):c.6512-3T>C rs764271022 0.00001
NM_001999.4(FBN2):c.6518A>G (p.Asn2173Ser) rs143054385 0.00001
NM_001999.4(FBN2):c.6558A>G (p.Gln2186=) rs757216544 0.00001
NM_001999.4(FBN2):c.6584G>A (p.Arg2195His) rs144887443 0.00001
NM_001999.4(FBN2):c.6598A>G (p.Met2200Val) rs766808076 0.00001
NM_001999.4(FBN2):c.6609C>A (p.Asn2203Lys) rs761101580 0.00001
NM_001999.4(FBN2):c.6610C>G (p.Leu2204Val) rs201541140 0.00001
NM_001999.4(FBN2):c.6611T>C (p.Leu2204Pro) rs772480416 0.00001
NM_001999.4(FBN2):c.6629G>A (p.Arg2210His) rs745396297 0.00001
NM_001999.4(FBN2):c.6637+18A>G rs777841785 0.00001
NM_001999.4(FBN2):c.6658G>A (p.Gly2220Ser) rs863223582 0.00001
NM_001999.4(FBN2):c.6665C>T (p.Pro2222Leu) rs747908706 0.00001
NM_001999.4(FBN2):c.6669T>C (p.Cys2223=) rs754724355 0.00001
NM_001999.4(FBN2):c.671T>C (p.Met224Thr) rs886038798 0.00001
NM_001999.4(FBN2):c.6758-14A>G rs757283004 0.00001
NM_001999.4(FBN2):c.6795T>C (p.Ala2265=) rs753071532 0.00001
NM_001999.4(FBN2):c.6805A>G (p.Met2269Val) rs943225631 0.00001
NM_001999.4(FBN2):c.680G>A (p.Gly227Glu) rs760247833 0.00001
NM_001999.4(FBN2):c.681G>T (p.Gly227=) rs772923075 0.00001
NM_001999.4(FBN2):c.6834G>A (p.Thr2278=) rs374853253 0.00001
NM_001999.4(FBN2):c.6843T>G (p.Ile2281Met) rs770011418 0.00001
NM_001999.4(FBN2):c.6881-8T>G rs1355994517 0.00001
NM_001999.4(FBN2):c.6885G>A (p.Leu2295=) rs754211806 0.00001
NM_001999.4(FBN2):c.6896C>T (p.Ala2299Val) rs756798856 0.00001
NM_001999.4(FBN2):c.6919T>A (p.Ser2307Thr) rs1208950525 0.00001
NM_001999.4(FBN2):c.6949G>A (p.Gly2317Ser) rs863223613 0.00001
NM_001999.4(FBN2):c.6959T>C (p.Met2320Thr) rs749681942 0.00001
NM_001999.4(FBN2):c.6960G>A (p.Met2320Ile) rs780214155 0.00001
NM_001999.4(FBN2):c.6990G>A (p.Arg2330=) rs28763928 0.00001
NM_001999.4(FBN2):c.6996T>C (p.Asp2332=) rs753673393 0.00001
NM_001999.4(FBN2):c.7007G>A (p.Cys2336Tyr) rs760494751 0.00001
NM_001999.4(FBN2):c.7013-18T>C rs375140877 0.00001
NM_001999.4(FBN2):c.7057C>T (p.Arg2353Cys) rs863223586 0.00001
NM_001999.4(FBN2):c.7058G>A (p.Arg2353His) rs775905979 0.00001
NM_001999.4(FBN2):c.7174C>A (p.Gln2392Lys) rs762730300 0.00001
NM_001999.4(FBN2):c.7202G>A (p.Ser2401Asn) rs758124873 0.00001
NM_001999.4(FBN2):c.7256G>T (p.Gly2419Val) rs762058983 0.00001
NM_001999.4(FBN2):c.7262A>G (p.Gln2421Arg) rs764759689 0.00001
NM_001999.4(FBN2):c.7266C>T (p.Cys2422=) rs776227906 0.00001
NM_001999.4(FBN2):c.7306A>C (p.Ile2436Leu) rs755134019 0.00001
NM_001999.4(FBN2):c.7308A>T (p.Ile2436=) rs1005611432 0.00001
NM_001999.4(FBN2):c.7317T>C (p.His2439=) rs1554117089 0.00001
NM_001999.4(FBN2):c.7331C>T (p.Thr2444Ile) rs201883128 0.00001
NM_001999.4(FBN2):c.7345+3A>G rs776419198 0.00001
NM_001999.4(FBN2):c.734G>A (p.Arg245Gln) rs747507457 0.00001
NM_001999.4(FBN2):c.7385A>G (p.Asn2462Ser) rs576501460 0.00001
NM_001999.4(FBN2):c.7396A>G (p.Ile2466Val) rs373370945 0.00001
NM_001999.4(FBN2):c.73G>A (p.Gly25Ser) rs763408652 0.00001
NM_001999.4(FBN2):c.7405A>G (p.Met2469Val) rs863223546 0.00001
NM_001999.4(FBN2):c.7471+5C>T rs369559870 0.00001
NM_001999.4(FBN2):c.7472-14T>A rs772646837 0.00001
NM_001999.4(FBN2):c.7472-17A>G rs773888786 0.00001
NM_001999.4(FBN2):c.7524C>T (p.Asn2508=) rs1765389228 0.00001
NM_001999.4(FBN2):c.7553C>T (p.Pro2518Leu) rs776761421 0.00001
NM_001999.4(FBN2):c.7595-8A>G rs878854479 0.00001
NM_001999.4(FBN2):c.7632G>T (p.Gln2544His) rs1451291857 0.00001
NM_001999.4(FBN2):c.7654G>C (p.Gly2552Arg) rs375790581 0.00001
NM_001999.4(FBN2):c.7655G>A (p.Gly2552Glu) rs1473525001 0.00001
NM_001999.4(FBN2):c.7659G>A (p.Gly2553=) rs763586091 0.00001
NM_001999.4(FBN2):c.7676C>T (p.Pro2559Leu) rs770193908 0.00001
NM_001999.4(FBN2):c.767C>T (p.Ala256Val) rs1345155944 0.00001
NM_001999.4(FBN2):c.7720G>A (p.Glu2574Lys) rs377689621 0.00001
NM_001999.4(FBN2):c.7740G>A (p.Ser2580=) rs942206547 0.00001
NM_001999.4(FBN2):c.7741C>T (p.Leu2581Phe) rs146316163 0.00001
NM_001999.4(FBN2):c.7767A>G (p.Gln2589=) rs777828326 0.00001
NM_001999.4(FBN2):c.778C>G (p.Pro260Ala) rs774323549 0.00001
NM_001999.4(FBN2):c.787C>T (p.Arg263Trp) rs151329128 0.00001
NM_001999.4(FBN2):c.7886A>G (p.Gln2629Arg) rs768750542 0.00001
NM_001999.4(FBN2):c.791G>A (p.Gly264Asp) rs746046058 0.00001
NM_001999.4(FBN2):c.7960+20A>G rs761551216 0.00001
NM_001999.4(FBN2):c.7960+5G>A rs863223590 0.00001
NM_001999.4(FBN2):c.7961-11C>T rs751924753 0.00001
NM_001999.4(FBN2):c.7985A>G (p.Asn2662Ser) rs765867245 0.00001
NM_001999.4(FBN2):c.7987G>A (p.Ala2663Thr) rs1245151549 0.00001
NM_001999.4(FBN2):c.798C>G (p.Ile266Met) rs1754660877 0.00001
NM_001999.4(FBN2):c.8045C>T (p.Ser2682Leu) rs370250073 0.00001
NM_001999.4(FBN2):c.8099C>T (p.Ser2700Leu) rs776788539 0.00001
NM_001999.4(FBN2):c.8125G>A (p.Gly2709Ser) rs145809527 0.00001
NM_001999.4(FBN2):c.8193-7C>G rs754837805 0.00001
NM_001999.4(FBN2):c.8196C>T (p.His2732=) rs780426123 0.00001
NM_001999.4(FBN2):c.8254G>A (p.Asp2752Asn) rs529742815 0.00001
NM_001999.4(FBN2):c.827-19A>G rs199559284 0.00001
NM_001999.4(FBN2):c.82G>T (p.Gly28Cys) rs772841538 0.00001
NM_001999.4(FBN2):c.8302A>C (p.Asn2768His) rs1262933234 0.00001
NM_001999.4(FBN2):c.8325C>T (p.Ser2775=) rs368712261 0.00001
NM_001999.4(FBN2):c.8344C>T (p.His2782Tyr) rs745600341 0.00001
NM_001999.4(FBN2):c.8365-5T>C rs1237152538 0.00001
NM_001999.4(FBN2):c.8365-7C>A rs1185451078 0.00001
NM_001999.4(FBN2):c.8413A>G (p.Met2805Val) rs776610785 0.00001
NM_001999.4(FBN2):c.8417A>T (p.Lys2806Met) rs565816741 0.00001
NM_001999.4(FBN2):c.8423A>G (p.Asn2808Ser) rs772227931 0.00001
NM_001999.4(FBN2):c.8426T>C (p.Leu2809Pro) rs863223591 0.00001
NM_001999.4(FBN2):c.8437G>A (p.Gly2813Ser) rs199808954 0.00001
NM_001999.4(FBN2):c.8458G>A (p.Glu2820Lys) rs752384882 0.00001
NM_001999.4(FBN2):c.8513A>G (p.Gln2838Arg) rs772928933 0.00001
NM_001999.4(FBN2):c.8574G>A (p.Thr2858=) rs573245869 0.00001
NM_001999.4(FBN2):c.8668A>G (p.Asn2890Asp) rs888064842 0.00001
NM_001999.4(FBN2):c.8675A>G (p.Asp2892Gly) rs768293070 0.00001
NM_001999.4(FBN2):c.8681A>C (p.Tyr2894Ser) rs779659640 0.00001
NM_001999.4(FBN2):c.86A>C (p.Gln29Pro) rs771712321 0.00001
NM_001999.4(FBN2):c.8705C>A (p.Ala2902Asp) rs757052151 0.00001
NM_001999.4(FBN2):c.885A>G (p.Thr295=) rs989219711 0.00001
NM_001999.4(FBN2):c.893C>G (p.Ser298Cys) rs577855501 0.00001
NM_001999.4(FBN2):c.951A>G (p.Glu317=) rs1326391832 0.00001
NM_001999.4(FBN2):c.953-3T>A rs1020574940 0.00001
NM_001999.4(FBN2):c.953-9C>T rs1181205032 0.00001
NM_003036.4(SKI):c.1005A>G (p.Lys335=) rs1057524639 0.00001
NM_003036.4(SKI):c.1070G>A (p.Arg357Gln) rs200874294 0.00001
NM_003036.4(SKI):c.1117C>T (p.Arg373Cys) rs749507746 0.00001
NM_003036.4(SKI):c.1152C>T (p.Pro384=) rs200160702 0.00001
NM_003036.4(SKI):c.116C>T (p.Ser39Leu) rs746485528 0.00001
NM_003036.4(SKI):c.1188C>T (p.His396=) rs998931386 0.00001
NM_003036.4(SKI):c.1193C>T (p.Pro398Leu) rs776248526 0.00001
NM_003036.4(SKI):c.1212-13C>G rs754988590 0.00001
NM_003036.4(SKI):c.1243G>A (p.Val415Met) rs770481744 0.00001
NM_003036.4(SKI):c.1247C>T (p.Ala416Val) rs775044622 0.00001
NM_003036.4(SKI):c.1294A>G (p.Ser432Gly) rs368739670 0.00001
NM_003036.4(SKI):c.129G>A (p.Ala43=) rs1313492083 0.00001
NM_003036.4(SKI):c.1301C>T (p.Pro434Leu) rs768068601 0.00001
NM_003036.4(SKI):c.1314C>T (p.Ala438=) rs554715623 0.00001
NM_003036.4(SKI):c.1317C>T (p.Val439=) rs1446526482 0.00001
NM_003036.4(SKI):c.1330G>A (p.Glu444Lys) rs747693633 0.00001
NM_003036.4(SKI):c.1339G>A (p.Ala447Thr) rs1325458157 0.00001
NM_003036.4(SKI):c.1411G>T (p.Val471Leu) rs745717087 0.00001
NM_003036.4(SKI):c.1417G>A (p.Ala473Thr) rs371772366 0.00001
NM_003036.4(SKI):c.1420C>G (p.Pro474Ala) rs1057518494 0.00001
NM_003036.4(SKI):c.1422A>T (p.Pro474=) rs772286488 0.00001
NM_003036.4(SKI):c.1428G>C (p.Glu476Asp) rs776816870 0.00001
NM_003036.4(SKI):c.1474+4C>T rs780930093 0.00001
NM_003036.4(SKI):c.1474+8T>A rs1249714928 0.00001
NM_003036.4(SKI):c.1475-5C>T rs1640509294 0.00001
NM_003036.4(SKI):c.1476C>T (p.Phe492=) rs1006090345 0.00001
NM_003036.4(SKI):c.1485C>T (p.Ser495=) rs964817956 0.00001
NM_003036.4(SKI):c.149A>T (p.Glu50Val) rs1158589836 0.00001
NM_003036.4(SKI):c.1505C>T (p.Pro502Leu) rs1057520161 0.00001
NM_003036.4(SKI):c.1506G>A (p.Pro502=) rs975738197 0.00001
NM_003036.4(SKI):c.1521C>T (p.Ser507=) rs1430227962 0.00001
NM_003036.4(SKI):c.1530C>T (p.Ala510=) rs1216089588 0.00001
NM_003036.4(SKI):c.1548G>A (p.Pro516=) rs1239990628 0.00001
NM_003036.4(SKI):c.1554G>A (p.Ala518=) rs770050757 0.00001
NM_003036.4(SKI):c.1562T>C (p.Leu521Pro) rs1161295504 0.00001
NM_003036.4(SKI):c.1572C>T (p.Ala524=) rs1285131836 0.00001
NM_003036.4(SKI):c.1620G>A (p.Ala540=) rs529842293 0.00001
NM_003036.4(SKI):c.163G>C (p.Ala55Pro) rs769506718 0.00001
NM_003036.4(SKI):c.1700T>C (p.Val567Ala) rs887731777 0.00001
NM_003036.4(SKI):c.1735G>A (p.Ala579Thr) rs370558210 0.00001
NM_003036.4(SKI):c.1739C>T (p.Ala580Val) rs1397350089 0.00001
NM_003036.4(SKI):c.173C>G (p.Ala58Gly) rs1638564960 0.00001
NM_003036.4(SKI):c.1767+6C>T rs780191562 0.00001
NM_003036.4(SKI):c.1767+7G>A rs199962561 0.00001
NM_003036.4(SKI):c.1768-4C>T rs200246585 0.00001
NM_003036.4(SKI):c.1795A>G (p.Lys599Glu) rs761706108 0.00001
NM_003036.4(SKI):c.1797G>A (p.Lys599=) rs767488534 0.00001
NM_003036.4(SKI):c.1833C>T (p.Asn611=) rs1557853907 0.00001
NM_003036.4(SKI):c.1860C>T (p.Arg620=) rs1002513362 0.00001
NM_003036.4(SKI):c.1878G>A (p.Lys626=) rs761614569 0.00001
NM_003036.4(SKI):c.1914G>A (p.Lys638=) rs752864137 0.00001
NM_003036.4(SKI):c.1998+9G>A rs533071160 0.00001
NM_003036.4(SKI):c.1999-11C>T rs1022360604 0.00001
NM_003036.4(SKI):c.1999-18C>T rs762184119 0.00001
NM_003036.4(SKI):c.1999-9C>T rs369496789 0.00001
NM_003036.4(SKI):c.2014G>A (p.Val672Met) rs1339249855 0.00001
NM_003036.4(SKI):c.2029G>A (p.Ala677Thr) rs1254335229 0.00001
NM_003036.4(SKI):c.2040C>G (p.Asp680Glu) rs557791923 0.00001
NM_003036.4(SKI):c.2052G>T (p.Leu684=) rs1271020892 0.00001
NM_003036.4(SKI):c.2058C>T (p.Ala686=) rs1171554207 0.00001
NM_003036.4(SKI):c.2074C>T (p.Arg692Cys) rs1341756519 0.00001
NM_003036.4(SKI):c.2084G>A (p.Arg695Gln) rs1038419071 0.00001
NM_003036.4(SKI):c.2092C>T (p.Leu698=) rs766929334 0.00001
NM_003036.4(SKI):c.2133G>A (p.Pro711=) rs1640594973 0.00001
NM_003036.4(SKI):c.2138C>T (p.Ala713Val) rs1160688025 0.00001
NM_003036.4(SKI):c.2154G>A (p.Ala718=) rs778456446 0.00001
NM_003036.4(SKI):c.2168C>A (p.Ala723Asp) rs1264586139 0.00001
NM_003036.4(SKI):c.2171C>T (p.Ala724Val) rs1553201577 0.00001
NM_003036.4(SKI):c.2172G>A (p.Ala724=) rs879070309 0.00001
NM_003036.4(SKI):c.2175G>C (p.Glu725Asp) rs1381348497 0.00001
NM_003036.4(SKI):c.235A>G (p.Ile79Val) rs1638568678 0.00001
NM_003036.4(SKI):c.258G>C (p.Leu86=) rs780679449 0.00001
NM_003036.4(SKI):c.300C>T (p.Arg100=) rs1286311989 0.00001
NM_003036.4(SKI):c.324G>A (p.Glu108=) rs201144990 0.00001
NM_003036.4(SKI):c.330C>T (p.Ile110=) rs764373577 0.00001
NM_003036.4(SKI):c.340G>A (p.Val114Met) rs1165144413 0.00001
NM_003036.4(SKI):c.405G>T (p.Ser135=) rs769774481 0.00001
NM_003036.4(SKI):c.435G>C (p.Glu145Asp) rs1221007732 0.00001
NM_003036.4(SKI):c.438C>T (p.Leu146=) rs371061756 0.00001
NM_003036.4(SKI):c.45G>A (p.Pro15=) rs762947696 0.00001
NM_003036.4(SKI):c.461C>T (p.Thr154Met) rs1275592565 0.00001
NM_003036.4(SKI):c.464C>G (p.Ala155Gly) rs559020511 0.00001
NM_003036.4(SKI):c.471G>A (p.Gln157=) rs569206617 0.00001
NM_003036.4(SKI):c.480C>T (p.Ile160=) rs952491836 0.00001
NM_003036.4(SKI):c.495C>T (p.Gly165=) rs749438586 0.00001
NM_003036.4(SKI):c.498C>T (p.Ile166=) rs768733290 0.00001
NM_003036.4(SKI):c.504C>T (p.Pro168=) rs774588048 0.00001
NM_003036.4(SKI):c.553C>T (p.Leu185=) rs753251990 0.00001
NM_003036.4(SKI):c.562G>A (p.Ala188Thr) rs377092419 0.00001
NM_003036.4(SKI):c.611C>T (p.Ala204Val) rs772336192 0.00001
NM_003036.4(SKI):c.648C>G (p.Arg216=) rs1398417113 0.00001
NM_003036.4(SKI):c.663C>T (p.Tyr221=) rs762684190 0.00001
NM_003036.4(SKI):c.691C>T (p.Leu231=) rs1191109372 0.00001
NM_003036.4(SKI):c.699G>T (p.Val233=) rs1174147537 0.00001
NM_003036.4(SKI):c.702C>G (p.Pro234=) rs1057523205 0.00001
NM_003036.4(SKI):c.72C>T (p.Phe24=) rs953342598 0.00001
NM_003036.4(SKI):c.75C>T (p.His25=) rs1486448334 0.00001
NM_003036.4(SKI):c.795G>C (p.Lys265Asn) rs1457407953 0.00001
NM_003036.4(SKI):c.81C>T (p.Ser27=) rs755325222 0.00001
NM_003036.4(SKI):c.900C>A (p.Leu300=) rs747649658 0.00001
NM_003036.4(SKI):c.906C>T (p.Arg302=) rs772758586 0.00001
NM_003036.4(SKI):c.918C>T (p.Asp306=) rs776475482 0.00001
NM_003036.4(SKI):c.919G>A (p.Val307Met) rs775192483 0.00001
NM_003036.4(SKI):c.923A>G (p.Lys308Arg) rs1276404635 0.00001
NM_003036.4(SKI):c.925G>A (p.Glu309Lys) rs1553190080 0.00001
NM_003036.4(SKI):c.942C>T (p.Gly314=) rs1245622958 0.00001
NM_003036.4(SKI):c.970-10T>C rs750601690 0.00001
NM_003036.4(SKI):c.970-11A>G rs1640462475 0.00001
NM_003036.4(SKI):c.974C>T (p.Ser325Phe) rs779414606 0.00001
NM_003036.4(SKI):c.986C>T (p.Pro329Leu) rs1407167491 0.00001
NM_003238.6(TGFB2):c.1052C>T (p.Pro351Leu) rs773943154 0.00001
NM_003238.6(TGFB2):c.1057T>G (p.Leu353Val) rs777045186 0.00001
NM_003238.6(TGFB2):c.1086+20G>C rs201814950 0.00001
NM_003238.6(TGFB2):c.1095C>T (p.Ser365=) rs748818194 0.00001
NM_003238.6(TGFB2):c.1098A>G (p.Leu366=) rs931960431 0.00001
NM_003238.6(TGFB2):c.1122A>T (p.Ala374=) rs1316829320 0.00001
NM_003238.6(TGFB2):c.1141G>A (p.Val381Met) rs376159002 0.00001
NM_003238.6(TGFB2):c.126G>A (p.Gly42=) rs1199107727 0.00001
NM_003238.6(TGFB2):c.156T>G (p.Ser52Arg) rs1431335293 0.00001
NM_003238.6(TGFB2):c.209T>C (p.Ile70Thr) rs1027195424 0.00001
NM_003238.6(TGFB2):c.236A>G (p.Gln79Arg) rs371241859 0.00001
NM_003238.6(TGFB2):c.261C>T (p.Ala87=) rs746416777 0.00001
NM_003238.6(TGFB2):c.305A>G (p.Glu102Gly) rs967581444 0.00001
NM_003238.6(TGFB2):c.306G>A (p.Glu102=) rs754502128 0.00001
NM_003238.6(TGFB2):c.346+20T>A rs1226959859 0.00001
NM_003238.6(TGFB2):c.362C>G (p.Thr121Ser) rs1300823855 0.00001
NM_003238.6(TGFB2):c.369C>T (p.Tyr123=) rs368157039 0.00001
NM_003238.6(TGFB2):c.371G>A (p.Arg124Lys) rs863223789 0.00001
NM_003238.6(TGFB2):c.37C>A (p.His13Asn) rs763918203 0.00001
NM_003238.6(TGFB2):c.40C>T (p.Leu14=) rs1407180803 0.00001
NM_003238.6(TGFB2):c.493C>T (p.Arg165Trp) rs773820426 0.00001
NM_003238.6(TGFB2):c.501G>A (p.Glu167=) rs550789732 0.00001
NM_003238.6(TGFB2):c.52G>A (p.Ala18Thr) rs886045975 0.00001
NM_003238.6(TGFB2):c.547C>T (p.Arg183Cys) rs1436552875 0.00001
NM_003238.6(TGFB2):c.548G>A (p.Arg183His) rs773177511 0.00001
NM_003238.6(TGFB2):c.583G>T (p.Glu195Ter) rs863223790 0.00001
NM_003238.6(TGFB2):c.589G>A (p.Glu197Lys) rs764028978 0.00001
NM_003238.6(TGFB2):c.609A>G (p.Val203=) rs142588546 0.00001
NM_003238.6(TGFB2):c.612T>C (p.Thr204=) rs960874816 0.00001
NM_003238.6(TGFB2):c.686G>T (p.Cys229Phe) rs1185241582 0.00001
NM_003238.6(TGFB2):c.751G>T (p.Ala251Ser) rs769911912 0.00001
NM_003238.6(TGFB2):c.764G>A (p.Gly255Asp) rs781514831 0.00001
NM_003238.6(TGFB2):c.773C>T (p.Thr258Ile) rs373352179 0.00001
NM_003238.6(TGFB2):c.775T>G (p.Tyr259Asp) rs1212341043 0.00001
NM_003238.6(TGFB2):c.817A>G (p.Lys273Glu) rs1467391590 0.00001
NM_003238.6(TGFB2):c.826G>A (p.Gly276Arg) rs1169804851 0.00001
NM_003238.6(TGFB2):c.893G>A (p.Arg298Gln) rs762561484 0.00001
NM_003238.6(TGFB2):c.910T>G (p.Leu304Val) rs1478901182 0.00001
NM_003238.6(TGFB2):c.918G>A (p.Ala306=) rs767936611 0.00001
NM_003238.6(TGFB2):c.942G>A (p.Gln314=) rs188801474 0.00001
NM_003238.6(TGFB2):c.957A>C (p.Leu319=) rs755474865 0.00001
NM_003238.6(TGFB2):c.970A>G (p.Ile324Val) rs866788278 0.00001
NM_003239.5(TGFB3):c.*495C>T rs387906514 0.00001
NM_003239.5(TGFB3):c.1048T>A (p.Tyr350Asn) rs1400200743 0.00001
NM_003239.5(TGFB3):c.1050C>T (p.Tyr350=) rs1386754558 0.00001
NM_003239.5(TGFB3):c.1054C>T (p.Arg352Cys) rs749485028 0.00001
NM_003239.5(TGFB3):c.1076G>C (p.Ser359Thr) rs1474531974 0.00001
NM_003239.5(TGFB3):c.1079C>T (p.Thr360Met) rs750299821 0.00001
NM_003239.5(TGFB3):c.1137G>A (p.Val379=) rs751480221 0.00001
NM_003239.5(TGFB3):c.1150G>A (p.Glu384Lys) rs1304975316 0.00001
NM_003239.5(TGFB3):c.1175T>C (p.Val392Ala) rs759168311 0.00001
NM_003239.5(TGFB3):c.11A>G (p.His4Arg) rs371772819 0.00001
NM_003239.5(TGFB3):c.1230A>G (p.Lys410=) rs373100223 0.00001
NM_003239.5(TGFB3):c.16C>G (p.Gln6Glu) rs367967889 0.00001
NM_003239.5(TGFB3):c.230G>A (p.Arg77Gln) rs1036545575 0.00001
NM_003239.5(TGFB3):c.289G>A (p.Glu97Lys) rs769627183 0.00001
NM_003239.5(TGFB3):c.294G>A (p.Ser98=) rs778214495 0.00001
NM_003239.5(TGFB3):c.2T>A (p.Met1Lys) rs1555361455 0.00001
NM_003239.5(TGFB3):c.339G>A (p.Gly113=) rs886050798 0.00001
NM_003239.5(TGFB3):c.369C>T (p.Cys123=) rs1457776871 0.00001
NM_003239.5(TGFB3):c.389A>G (p.Lys130Arg) rs780051351 0.00001
NM_003239.5(TGFB3):c.393T>C (p.Val131=) rs1302391555 0.00001
NM_003239.5(TGFB3):c.405T>C (p.Asn135=) rs756208950 0.00001
NM_003239.5(TGFB3):c.420G>A (p.Glu140=) rs878854609 0.00001
NM_003239.5(TGFB3):c.435C>T (p.Asn145=) rs2035294472 0.00001
NM_003239.5(TGFB3):c.440T>G (p.Phe147Cys) rs752691299 0.00001
NM_003239.5(TGFB3):c.443G>A (p.Arg148Gln) rs776388495 0.00001
NM_003239.5(TGFB3):c.454C>T (p.Arg152Trp) rs546744152 0.00001
NM_003239.5(TGFB3):c.463C>T (p.Arg155Trp) rs868258653 0.00001
NM_003239.5(TGFB3):c.471C>G (p.Pro157=) rs768917005 0.00001
NM_003239.5(TGFB3):c.480C>T (p.Ser160=) rs1555360832 0.00001
NM_003239.5(TGFB3):c.487C>T (p.Arg163Trp) rs142601521 0.00001
NM_003239.5(TGFB3):c.516+14C>T rs757567007 0.00001
NM_003239.5(TGFB3):c.516+15A>G rs199930875 0.00001
NM_003239.5(TGFB3):c.521T>A (p.Leu174His) rs869025534 0.00001
NM_003239.5(TGFB3):c.524G>A (p.Arg175Gln) rs1319852054 0.00001
NM_003239.5(TGFB3):c.534G>A (p.Glu178=) rs148895204 0.00001
NM_003239.5(TGFB3):c.550C>T (p.Arg184Cys) rs767125999 0.00001
NM_003239.5(TGFB3):c.56C>T (p.Thr19Met) rs770761155 0.00001
NM_003239.5(TGFB3):c.580C>T (p.Arg194Trp) rs368004396 0.00001
NM_003239.5(TGFB3):c.612C>T (p.Val204=) rs1000679465 0.00001
NM_003239.5(TGFB3):c.729C>T (p.His243=) rs746620931 0.00001
NM_003239.5(TGFB3):c.730G>A (p.Glu244Lys) rs1085307755 0.00001
NM_003239.5(TGFB3):c.755-20A>C rs747852718 0.00001
NM_003239.5(TGFB3):c.755-5T>C rs768188445 0.00001
NM_003239.5(TGFB3):c.75C>T (p.Ser25=) rs773168115 0.00001
NM_003239.5(TGFB3):c.769G>T (p.Asp257Tyr) rs2035184083 0.00001
NM_003239.5(TGFB3):c.77C>G (p.Thr26Ser) rs771543236 0.00001
NM_003239.5(TGFB3):c.798C>T (p.Arg266=) rs772654040 0.00001
NM_003239.5(TGFB3):c.806A>G (p.Lys269Arg) rs771638085 0.00001
NM_003239.5(TGFB3):c.812A>G (p.Lys271Arg) rs2035183279 0.00001
NM_003239.5(TGFB3):c.82A>C (p.Thr28Pro) rs564013964 0.00001
NM_003239.5(TGFB3):c.840C>T (p.Leu280=) rs746293134 0.00001
NM_003239.5(TGFB3):c.878A>C (p.Gln293Pro) rs759234781 0.00001
NM_003239.5(TGFB3):c.897G>A (p.Lys299=) rs771455698 0.00001
NM_003239.5(TGFB3):c.900G>C (p.Arg300=) rs761439201 0.00001
NM_003239.5(TGFB3):c.914A>G (p.Asn305Ser) rs369281541 0.00001
NM_003239.5(TGFB3):c.926+8_926+9del rs1491398509 0.00001
NM_003239.5(TGFB3):c.927-19T>C rs199714510 0.00001
NM_003239.5(TGFB3):c.927-4G>A rs201637508 0.00001
NM_003239.5(TGFB3):c.94T>A (p.Phe32Ile) rs1194816649 0.00001
NM_003239.5(TGFB3):c.957C>T (p.Pro319=) rs977821614 0.00001
NM_003239.5(TGFB3):c.965T>C (p.Ile322Thr) rs762643638 0.00001
NM_003239.5(TGFB3):c.99C>T (p.Gly33=) rs757663439 0.00001
NC_000001.10:g.(?_2160186)_(2238224_?)dup
NC_000001.10:g.(?_218520044)_(218607810_?)del
NC_000001.10:g.(?_218520044)_(218614704_?)del
NC_000001.10:g.(?_218578501)_(218610848_?)del
NC_000001.10:g.(?_218607404)_(218607810_?)dup
NC_000001.10:g.(?_2234397)_(2238204_?)dup
NC_000001.10:g.(?_955543)_(2957600_?)del
NC_000001.11:g.(?_218344334)_(218445619_?)del
NC_000001.11:g.(?_218405159)_(218405342_?)dup
NC_000001.11:g.(?_218405159)_(218444629_?)del
NC_000001.11:g.(?_218435960)_(218437506_?)del
NC_000001.11:g.(?_218441194)_(218444629_?)del
NC_000005.10:g.(?_128300797)_(128303109_?)del
NC_000005.10:g.(?_128301372)_(128312805_?)dup
NC_000005.10:g.(?_128318139)_(128319011_?)dup
NC_000005.10:g.(?_128318149)_(128319001_?)del
NC_000005.10:g.(?_128328686)_(128330705_?)del
NC_000005.10:g.(?_128350858)_(128351015_?)del
NC_000005.10:g.(?_128408654)_(128530713_?)del
NC_000005.10:g.(?_128408664)_(128530703_?)del
NC_000005.10:g.(?_128530575)_(128530713_?)del
NC_000005.10:g.(?_128537340)_(128537613_?)del
NC_000005.9:g.(?_127595147)_(127873296_?)del
NC_000005.9:g.(?_127622400)_(127645101_?)dup
NC_000005.9:g.(?_127666245)_(127668746_?)del
NC_000005.9:g.(?_127666331)_(127799615_?)del
NC_000005.9:g.(?_127685029)_(127686707_?)del
NC_000005.9:g.(?_127689859)_(127693060_?)del
NC_000005.9:g.(?_127712503)_(127716032_?)del
NC_000012.11:g.(?_98909636)_(98909934_?)del
NC_000012.11:g.(?_98909646)_(98909944_?)dup
NC_000014.8:g.(?_76425530)_(76432058_?)del
NC_000014.8:g.(?_76425530)_(76432058_?)dup
NC_000014.8:g.(?_76437449)_(76438081_?)del
NC_000014.9:g.(?_75958692)_(75965705_?)del
NC_000014.9:g.(?_75958692)_(75971728_?)del
NC_000014.9:g.(?_75958692)_(75980923_?)del
NC_000015.10:g.(?_48134288)_(48644779_?)del
NC_000015.10:g.(?_48410970)_(48412763_?)del
NC_000015.10:g.(?_48410970)_(48497411_?)del
NC_000015.10:g.(?_48410970)_(48537828_?)del
NC_000015.10:g.(?_48410970)_(48644789_?)del
NC_000015.10:g.(?_48410980)_(48411389_?)del
NC_000015.10:g.(?_48410980)_(48465868_?)del
NC_000015.10:g.(?_48415161)_(48415777_?)del
NC_000015.10:g.(?_48415161)_(48468554_?)del
NC_000015.10:g.(?_48425359)_(48441856_?)del
NC_000015.10:g.(?_48428336)_(48474660_?)del
NC_000015.10:g.(?_48434584)_(48434723_?)del
NC_000015.10:g.(?_48434584)_(48437927_?)del
NC_000015.10:g.(?_48444521)_(48445524_?)del
NC_000015.10:g.(?_48444531)_(48444670_?)del
NC_000015.10:g.(?_48444531)_(48448903_?)del
NC_000015.10:g.(?_48446696)_(48446910_?)del
NC_000015.10:g.(?_48460226)_(48460337_?)del
NC_000015.10:g.(?_48460226)_(48499058_?)del
NC_000015.10:g.(?_48470614)_(48499058_?)del
NC_000015.10:g.(?_48470634)_(48470756_?)del
NC_000015.10:g.(?_48492451)_(48492596_?)del
NC_000015.10:g.(?_48503767)_(48510189_?)del
NC_000015.10:g.(?_48503777)_(48516372_?)del
NC_000015.10:g.(?_48503777)_(48613102_?)del
NC_000015.10:g.(?_48508562)_(48516382_?)del
NC_000015.10:g.(?_48508562)_(48644789_?)del
NC_000015.10:g.(?_48508572)_(48510179_?)del
NC_000015.10:g.(?_48520639)_(48520837_?)del
NC_000015.10:g.(?_48596263)_(48644789_?)del
NC_000015.10:g.(?_48596273)_(48613102_?)del
NC_000015.10:g.(?_48596273)_(48613102_?)dup
NC_000015.10:g.(?_48596273)_(48644779_?)del
NC_000015.10:g.(?_48610708)_(48613112_?)del
NC_000015.10:g.(?_48612990)_(48644789_?)del
NC_000015.10:g.(?_48613000)_(48644779_?)del
NC_000015.10:g.(?_48644596)_(48644779_?)del
NC_000015.9:g.(?_48426485)_(48730124_?)del
NC_000015.9:g.(?_48695060)_(48703482_?)del
NC_000015.9:g.(?_48703167)_(48726930_?)dup
NC_000015.9:g.(?_48703177)_(48726920_?)dup
NC_000015.9:g.(?_48703177)_(48830015_?)del
NC_000015.9:g.(?_48703181)_(48744887_?)del
NC_000015.9:g.(?_48703187)_(48707984_?)del
NC_000015.9:g.(?_48703187)_(48713903_?)del
NC_000015.9:g.(?_48703187)_(48714285_?)del
NC_000015.9:g.(?_48703187)_(48741110_?)del
NC_000015.9:g.(?_48703187)_(48748979_?)dup
NC_000015.9:g.(?_48703187)_(48936966_?)del
NC_000015.9:g.(?_48703187)_(48936966_?)dup
NC_000015.9:g.(?_48704746)_(48713023_?)dup
NC_000015.9:g.(?_48707358)_(48714275_?)del
NC_000015.9:g.(?_48717965)_(48720525_?)del
NC_000015.9:g.(?_48720523)_(48725205_?)del
NC_000015.9:g.(?_48722912)_(48727571_?)del
NC_000015.9:g.(?_48726874)_(48728050_?)del
NC_000015.9:g.(?_48729138)_(48730134_?)dup
NC_000015.9:g.(?_48729138)_(48734063_?)del
NC_000015.9:g.(?_48729138)_(48748979_?)del
NC_000015.9:g.(?_48733898)_(48734063_?)del
NC_000015.9:g.(?_48736718)_(48736877_?)del
NC_000015.9:g.(?_48760115)_(48760319_?)dup
NC_000015.9:g.(?_48762825)_(48762959_?)del
NC_000015.9:g.(?_48766715)_(48766857_?)del
NC_000015.9:g.(?_48773832)_(48936966_?)del
NC_000015.9:g.(?_48781877)_(48782069_?)del
NC_000015.9:g.(?_48782167)_(48927084_?)del
NC_000015.9:g.(?_48791031)_48829849del
NC_000015.9:g.(?_48791162)_(48791255_?)del
NC_000015.9:g.(?_48791162)_(48830025_?)del
NC_000015.9:g.(?_48791162)_(48936966_?)del
NC_000015.9:g.(?_48795974)_(48830015_?)del
NC_000015.9:g.(?_48802221)_(48936966_?)del
NC_000015.9:g.(?_48805726)_(48808579_?)del
NC_000015.9:g.(?_48805726)_(48813034_?)del
NC_000015.9:g.(?_48805736)_(48936976_?)del
NC_000015.9:g.(?_48812836)_(48905309_?)dup
NC_000015.9:g.(?_48812846)_(48905299_?)dup
NC_000015.9:g.(?_48826257)_(49097846_?)del
NC_000015.9:g.(?_48826267)_(48936976_?)del
NC_000015.9:g.(?_48888460)_(48888595_?)del
NC_000015.9:g.(?_48888460)_(48905309_?)del
NC_000015.9:g.(?_48888460)_(48905309_?)dup
NC_000015.9:g.(?_48902905)_(48936966_?)del
NC_000015.9:g.(?_48902915)_(48905299_?)del
NC_000015.9:g.(?_48936783)_(48936966_?)del
NM_000138.4(FBN1):c.1888_1889delinsC (p.Asn630fs) rs1060501058
NM_000138.4(FBN1):c.2471_2474delinsAATAAA (p.Ser824_Pro825delinsLysTer) rs1566911724
NM_000138.4(FBN1):c.2682_2692delinsTTTACC (p.Ile895fs) rs1555399095
NM_000138.4(FBN1):c.4821delinsCA (p.Asp1608fs) rs1555397007
NM_000138.4(FBN1):c.5362_5364delinsGACT (p.Ser1788fs) rs1566901605
NM_000138.4(FBN1):c.5423-?_*2684+?del
NM_000138.4(FBN1):c.5593_5594dup (p.Ile1866fs) rs886043709
NM_000138.4(FBN1):c.7703_7708delTGGACG rs1060501015
NM_000138.5(FBN1):c.1003_1004del (p.Tyr335fs) rs2141336256
NM_000138.5(FBN1):c.1006T>C (p.Cys336Arg) rs1555400612
NM_000138.5(FBN1):c.1006T>G (p.Cys336Gly) rs1555400612
NM_000138.5(FBN1):c.1007G>A (p.Cys336Tyr) rs2141336245
NM_000138.5(FBN1):c.1010dup (p.Tyr337Ter) rs1566918075
NM_000138.5(FBN1):c.1011C>A (p.Tyr337Ter) rs1057520656
NM_000138.5(FBN1):c.1015G>A (p.Ala339Thr) rs2141336224
NM_000138.5(FBN1):c.1015G>T (p.Ala339Ser) rs2141336224
NM_000138.5(FBN1):c.1021_1028del (p.Thr341fs) rs1566918060
NM_000138.5(FBN1):c.102G>C (p.Val34=)
NM_000138.5(FBN1):c.1032C>T (p.Arg344=) rs2141336180
NM_000138.5(FBN1):c.1035C>A (p.Cys345Ter) rs1597584082
NM_000138.5(FBN1):c.1038T>A (p.Ser346=) rs2141336171
NM_000138.5(FBN1):c.1048C>T (p.Pro350Ser)
NM_000138.5(FBN1):c.1051C>T (p.Gln351Ter) rs397515753
NM_000138.5(FBN1):c.1051_1052del (p.Gln351fs) rs2141336143
NM_000138.5(FBN1):c.1057A>G (p.Ile353Val)
NM_000138.5(FBN1):c.1057A>T (p.Ile353Leu) rs750653834
NM_000138.5(FBN1):c.1061_1067dup (p.Met356fs)
NM_000138.5(FBN1):c.1067dup (p.Met356fs)
NM_000138.5(FBN1):c.1069C>T (p.Gln357Ter) rs2043846274
NM_000138.5(FBN1):c.1072T>A (p.Cys358Ser)
NM_000138.5(FBN1):c.1074_1081del (p.Cys358_Asp361delinsTer) rs2141336085
NM_000138.5(FBN1):c.1075_1089del (p.Cys359_Gly363del)
NM_000138.5(FBN1):c.1076G>T (p.Cys359Phe) rs1555400603
NM_000138.5(FBN1):c.1079G>A (p.Cys360Tyr) rs1555400601
NM_000138.5(FBN1):c.1082A>T (p.Asp361Val) rs2043845991
NM_000138.5(FBN1):c.1090C>T (p.Arg364Ter) rs794728165
NM_000138.5(FBN1):c.1090del (p.Arg364fs) rs2043845786
NM_000138.5(FBN1):c.1097G>C (p.Trp366Ser)
NM_000138.5(FBN1):c.1098G>C (p.Trp366Cys) rs1555400595
NM_000138.5(FBN1):c.1098G>T (p.Trp366Cys) rs1555400595
NM_000138.5(FBN1):c.1099T>C (p.Ser367Pro) rs2043845566
NM_000138.5(FBN1):c.109A>T (p.Thr37Ser) rs1890260265
NM_000138.5(FBN1):c.1100C>T (p.Ser367Phe)
NM_000138.5(FBN1):c.1106G>C (p.Gly369Ala)
NM_000138.5(FBN1):c.1113T>C (p.Thr371=)
NM_000138.5(FBN1):c.1117del (p.Ala373fs)
NM_000138.5(FBN1):c.1118C>A (p.Ala373Asp)
NM_000138.5(FBN1):c.1125G>T (p.Glu375Asp)
NM_000138.5(FBN1):c.1128_1147+2dup
NM_000138.5(FBN1):c.1129T>C (p.Cys377Arg) rs886039066
NM_000138.5(FBN1):c.1129T>G (p.Cys377Gly)
NM_000138.5(FBN1):c.112A>G (p.Arg38Gly)
NM_000138.5(FBN1):c.1130G>A (p.Cys377Tyr) rs1597583989
NM_000138.5(FBN1):c.1133C>G (p.Pro378Arg) rs1274000764
NM_000138.5(FBN1):c.1134del (p.Ile379fs) rs1060501038
NM_000138.5(FBN1):c.1138A>T (p.Arg380Ter) rs1566917979
NM_000138.5(FBN1):c.1144A>G (p.Thr382Ala)
NM_000138.5(FBN1):c.1145C>T (p.Thr382Ile)
NM_000138.5(FBN1):c.1147+19A>G rs369942195
NM_000138.5(FBN1):c.1147+2T>A rs2141335915
NM_000138.5(FBN1):c.1147+3A>C rs1597583956
NM_000138.5(FBN1):c.1147G>A (p.Glu383Lys) rs794728325
NM_000138.5(FBN1):c.1148-16T>C
NM_000138.5(FBN1):c.1148-16del
NM_000138.5(FBN1):c.1148-2A>G rs397515756
NM_000138.5(FBN1):c.1148-6T>C
NM_000138.5(FBN1):c.1155_1165del (p.Phe385fs)
NM_000138.5(FBN1):c.1156A>C (p.Asn386His) rs1597581597
NM_000138.5(FBN1):c.1158C>G (p.Asn386Lys) rs368737502
NM_000138.5(FBN1):c.1164G>T (p.Leu388=)
NM_000138.5(FBN1):c.1165dup (p.Cys389fs)
NM_000138.5(FBN1):c.1168T>C (p.Ser390Pro) rs779113310
NM_000138.5(FBN1):c.1175C>G (p.Pro392Arg) rs534127494
NM_000138.5(FBN1):c.1175C>T (p.Pro392Leu) rs534127494
NM_000138.5(FBN1):c.1178T>C (p.Met393Thr)
NM_000138.5(FBN1):c.1185dup (p.Pro396fs) rs2043801575
NM_000138.5(FBN1):c.1188_1206del (p.Gly397fs)
NM_000138.5(FBN1):c.1195C>G (p.Pro399Ala) rs886039155
NM_000138.5(FBN1):c.1196C>T (p.Pro399Leu) rs1363393532
NM_000138.5(FBN1):c.1200A>G (p.Glu400=)
NM_000138.5(FBN1):c.1200del (p.Glu400fs)
NM_000138.5(FBN1):c.1201T>A (p.Tyr401Asn)
NM_000138.5(FBN1):c.1202A>G (p.Tyr401Cys) rs2141331103
NM_000138.5(FBN1):c.1205C>T (p.Pro402Leu) rs1597581542
NM_000138.5(FBN1):c.1211C>A (p.Pro404Gln) rs779930519
NM_000138.5(FBN1):c.1211C>G (p.Pro404Arg) rs779930519
NM_000138.5(FBN1):c.1211C>T (p.Pro404Leu) rs779930519
NM_000138.5(FBN1):c.1216del (p.Gly407fs) rs2141331057
NM_000138.5(FBN1):c.1220del (p.Gly407fs)
NM_000138.5(FBN1):c.1226T>G (p.Ile409Ser)
NM_000138.5(FBN1):c.122G>C (p.Arg41Pro) rs1890259872
NM_000138.5(FBN1):c.1231C>T (p.Pro411Ser) rs2141331032
NM_000138.5(FBN1):c.1239C>T (p.Leu413=) rs1308682011
NM_000138.5(FBN1):c.1245del (p.Pro416fs) rs2141331000
NM_000138.5(FBN1):c.1262C>T (p.Pro421Leu)
NM_000138.5(FBN1):c.1266A>T (p.Gly422=) rs2141330973
NM_000138.5(FBN1):c.126C>G (p.Ala42=)
NM_000138.5(FBN1):c.126del (p.Lys43fs) rs1566944839
NM_000138.5(FBN1):c.1270C>A (p.Gln424Lys)
NM_000138.5(FBN1):c.1273A>G (p.Ile425Val)
NM_000138.5(FBN1):c.1278G>A (p.Pro426=) rs113245313
NM_000138.5(FBN1):c.1278G>T (p.Pro426=) rs113245313
NM_000138.5(FBN1):c.127A>T (p.Lys43Ter) rs751270801
NM_000138.5(FBN1):c.1281C>A (p.Val427=) rs759949880
NM_000138.5(FBN1):c.1281C>G (p.Val427=) rs759949880
NM_000138.5(FBN1):c.1285C>T (p.Arg429Ter) rs112645512
NM_000138.5(FBN1):c.1286G>A (p.Arg429Gln) rs368089138
NM_000138.5(FBN1):c.1286G>C (p.Arg429Pro)
NM_000138.5(FBN1):c.1286G>T (p.Arg429Leu) rs368089138
NM_000138.5(FBN1):c.1287dup (p.Pro430fs) rs1555400410
NM_000138.5(FBN1):c.1288C>A (p.Pro430Thr) rs2043799392
NM_000138.5(FBN1):c.128A>C (p.Lys43Thr) rs766081333
NM_000138.5(FBN1):c.1302T>A (p.Tyr434Ter) rs1566916969
NM_000138.5(FBN1):c.1305G>A (p.Leu435=) rs769895864
NM_000138.5(FBN1):c.1311A>G (p.Pro437=) rs1253494702
NM_000138.5(FBN1):c.1313C>G (p.Ser438Cys) rs2043799037
NM_000138.5(FBN1):c.1313C>T (p.Ser438Phe) rs2043799037
NM_000138.5(FBN1):c.131G>A (p.Arg44Lys) rs1890259213
NM_000138.5(FBN1):c.1321C>A (p.Pro441Thr)
NM_000138.5(FBN1):c.1322C>T (p.Pro441Leu)
NM_000138.5(FBN1):c.1324C>T (p.Pro442Ser)
NM_000138.5(FBN1):c.1327+7A>G rs529150174
NM_000138.5(FBN1):c.1328-15T>G rs2043793958
NM_000138.5(FBN1):c.132A>T (p.Arg44Ser) rs1890259134
NM_000138.5(FBN1):c.1335G>T (p.Leu445=)
NM_000138.5(FBN1):c.1338del (p.Pro446_Val447insTer)
NM_000138.5(FBN1):c.133A>G (p.Arg45Gly) rs1597652333
NM_000138.5(FBN1):c.135A>G (p.Arg45=) rs2140787554
NM_000138.5(FBN1):c.1369C>T (p.Arg457Cys) rs2141330047
NM_000138.5(FBN1):c.1390C>A (p.Arg464Ser) rs587782943
NM_000138.5(FBN1):c.1390C>T (p.Arg464Cys) rs587782943
NM_000138.5(FBN1):c.139G>T (p.Gly47Cys) rs762400500
NM_000138.5(FBN1):c.1400dup (p.Thr468fs) rs1597580984
NM_000138.5(FBN1):c.1410del (p.Ser471fs) rs1555400383
NM_000138.5(FBN1):c.1415= (p.Tyr472=) rs113936729
NM_000138.5(FBN1):c.1418G>A (p.Arg473Gln)
NM_000138.5(FBN1):c.1420T>G (p.Cys474Gly) rs1555400380
NM_000138.5(FBN1):c.1421G>T (p.Cys474Phe) rs794728166
NM_000138.5(FBN1):c.1426T>C (p.Cys476Arg) rs794728326
NM_000138.5(FBN1):c.1426T>G (p.Cys476Gly) rs794728326
NM_000138.5(FBN1):c.1427G>A (p.Cys476Tyr) rs2043792070
NM_000138.5(FBN1):c.1428C>G (p.Cys476Trp)
NM_000138.5(FBN1):c.1436G>A (p.Gly479Glu) rs1247260475
NM_000138.5(FBN1):c.143G>A (p.Gly48Glu)
NM_000138.5(FBN1):c.1443dup (p.Leu482fs)
NM_000138.5(FBN1):c.1448A>C (p.Asp483Ala)
NM_000138.5(FBN1):c.1453C>T (p.Arg485Cys) rs137854485
NM_000138.5(FBN1):c.1457G>A (p.Gly486Glu) rs1597580913
NM_000138.5(FBN1):c.1461G>A (p.Glu487=)
NM_000138.5(FBN1):c.1462T>C (p.Cys488Arg) rs1555400373
NM_000138.5(FBN1):c.1463G>A (p.Cys488Tyr) rs1555400372
NM_000138.5(FBN1):c.1468+12A>G
NM_000138.5(FBN1):c.1468+12A>T
NM_000138.5(FBN1):c.1468+15C>T rs762023380
NM_000138.5(FBN1):c.1468+19G>A
NM_000138.5(FBN1):c.1468+1G>A rs2141329822
NM_000138.5(FBN1):c.1468+1G>C
NM_000138.5(FBN1):c.1468+1G>T
NM_000138.5(FBN1):c.1468+2T>C rs794728167
NM_000138.5(FBN1):c.1468+2T>G rs794728167
NM_000138.5(FBN1):c.1468+5G>A rs397515757
NM_000138.5(FBN1):c.1468+5del
NM_000138.5(FBN1):c.1468G>A (p.Asp490Asn) rs1555400371
NM_000138.5(FBN1):c.1468G>T (p.Asp490Tyr) rs1555400371
NM_000138.5(FBN1):c.1469-10T>C
NM_000138.5(FBN1):c.1469-14A>T rs2043779369
NM_000138.5(FBN1):c.1469-2_1470dup rs1597580040
NM_000138.5(FBN1):c.1469-5T>G rs1060504144
NM_000138.5(FBN1):c.1469-6T>G
NM_000138.5(FBN1):c.146G>C (p.Gly49Ala) rs1382204819
NM_000138.5(FBN1):c.1472T>C (p.Val491Ala) rs2043779139
NM_000138.5(FBN1):c.1476T>C (p.Asp492=) rs758967612
NM_000138.5(FBN1):c.1479del (p.Glu493fs)
NM_000138.5(FBN1):c.1480T>C (p.Cys494Arg)
NM_000138.5(FBN1):c.1481G>A (p.Cys494Tyr) rs1057518881
NM_000138.5(FBN1):c.1481G>C (p.Cys494Ser) rs1057518881
NM_000138.5(FBN1):c.1482T>G (p.Cys494Trp)
NM_000138.5(FBN1):c.1485dup (p.Lys496fs)
NM_000138.5(FBN1):c.1490del (p.Asn497fs)
NM_000138.5(FBN1):c.1494del (p.Cys499fs)
NM_000138.5(FBN1):c.1495T>A (p.Cys499Ser) rs2043778680
NM_000138.5(FBN1):c.1495T>C (p.Cys499Arg)
NM_000138.5(FBN1):c.1496G>A (p.Cys499Tyr) rs587782944
NM_000138.5(FBN1):c.1502G>T (p.Gly501Val)
NM_000138.5(FBN1):c.1504G>T (p.Gly502Cys) rs762111810
NM_000138.5(FBN1):c.1505del (p.Gly502fs) rs2141327834
NM_000138.5(FBN1):c.1506T>C (p.Gly502=) rs770426679
NM_000138.5(FBN1):c.150C>T (p.His50=) rs1597652302
NM_000138.5(FBN1):c.1510T>A (p.Cys504Ser) rs1555400288
NM_000138.5(FBN1):c.1510T>C (p.Cys504Arg) rs1555400288
NM_000138.5(FBN1):c.1513A>G (p.Ile505Val) rs2043778389
NM_000138.5(FBN1):c.1513_1520del (p.Ile505fs) rs2141327809
NM_000138.5(FBN1):c.1520del (p.Asn507fs)
NM_000138.5(FBN1):c.1522C>T (p.Gln508Ter) rs1057521859
NM_000138.5(FBN1):c.1523_1525del (p.Gln508_Gly509delinsArg)
NM_000138.5(FBN1):c.1524G>A (p.Gln508=)
NM_000138.5(FBN1):c.1524G>C (p.Gln508His) rs1566916256
NM_000138.5(FBN1):c.1525G>T (p.Gly509Cys) rs1060501073
NM_000138.5(FBN1):c.1526G>A (p.Gly509Asp)
NM_000138.5(FBN1):c.1526del (p.Gly509fs)
NM_000138.5(FBN1):c.1530G>A (p.Ser510=) rs147511977
NM_000138.5(FBN1):c.1530G>T (p.Ser510=) rs147511977
NM_000138.5(FBN1):c.1535C>T (p.Thr512Ile) rs1555400280
NM_000138.5(FBN1):c.1536C>T (p.Thr512=) rs1178360874
NM_000138.5(FBN1):c.1537T>C (p.Cys513Arg) rs1555400279
NM_000138.5(FBN1):c.1537dup (p.Cys513fs) rs1597579948
NM_000138.5(FBN1):c.1538G>C (p.Cys513Ser) rs1060501036
NM_000138.5(FBN1):c.1538G>T (p.Cys513Phe) rs1060501036
NM_000138.5(FBN1):c.153C>A (p.Asp51Glu) rs1057524406
NM_000138.5(FBN1):c.1540C>T (p.Gln514Ter) rs2141327746
NM_000138.5(FBN1):c.1542G>A (p.Gln514=)
NM_000138.5(FBN1):c.1546C>T (p.Arg516Ter) rs113812345
NM_000138.5(FBN1):c.1553G>T (p.Gly518Val) rs794728169
NM_000138.5(FBN1):c.1556A>G (p.Tyr519Cys) rs1555400278
NM_000138.5(FBN1):c.155_156delinsTT (p.Ala52Val) rs2140787437
NM_000138.5(FBN1):c.1560G>A (p.Gln520=)
NM_000138.5(FBN1):c.1566A>T (p.Thr522=) rs531264662
NM_000138.5(FBN1):c.1570_1571del (p.Thr524fs) rs2043777735
NM_000138.5(FBN1):c.1570dup (p.Thr524fs) rs1555400274
NM_000138.5(FBN1):c.1571del (p.Thr524fs) rs886038817
NM_000138.5(FBN1):c.1572del (p.Arg525fs) rs1060501096
NM_000138.5(FBN1):c.1573C>T (p.Arg525Trp) rs768253008
NM_000138.5(FBN1):c.1576del (p.Thr526fs)
NM_000138.5(FBN1):c.1584C>A (p.Cys528Ter)
NM_000138.5(FBN1):c.1585C>T (p.Arg529Ter) rs137854476
NM_000138.5(FBN1):c.1588+10T>G rs761924614
NM_000138.5(FBN1):c.1588+16C>T
NM_000138.5(FBN1):c.1588+1G>A rs2141327634
NM_000138.5(FBN1):c.1588+20C>A
NM_000138.5(FBN1):c.1588+20C>G
NM_000138.5(FBN1):c.1588+9C>G rs757843637
NM_000138.5(FBN1):c.1589-12C>G
NM_000138.5(FBN1):c.1589-1G>A rs1555400077
NM_000138.5(FBN1):c.1589-1G>C
NM_000138.5(FBN1):c.1589-20T>G
NM_000138.5(FBN1):c.1589-5T>C rs1371798538
NM_000138.5(FBN1):c.1589-7A>T rs1467162544
NM_000138.5(FBN1):c.1589-8G>T rs779629563
NM_000138.5(FBN1):c.1589A>G (p.Asp530Gly) rs794728171
NM_000138.5(FBN1):c.1589A>T (p.Asp530Val)
NM_000138.5(FBN1):c.1595A>G (p.Asp532Gly) rs745422205
NM_000138.5(FBN1):c.1597G>T (p.Glu533Ter)
NM_000138.5(FBN1):c.1599G>A (p.Glu533=)
NM_000138.5(FBN1):c.1600T>G (p.Cys534Gly)
NM_000138.5(FBN1):c.1601G>A (p.Cys534Tyr) rs397515759
NM_000138.5(FBN1):c.1601G>C (p.Cys534Ser) rs397515759
NM_000138.5(FBN1):c.1603T>G (p.Leu535Val)
NM_000138.5(FBN1):c.1606C>T (p.Gln536Ter) rs1479709398
NM_000138.5(FBN1):c.1614C>T (p.Gly538=) rs2141323481
NM_000138.5(FBN1):c.1616G>A (p.Arg539Gln)
NM_000138.5(FBN1):c.1621T>G (p.Cys541Gly) rs111396594
NM_000138.5(FBN1):c.1622G>A (p.Cys541Tyr) rs1555400064
NM_000138.5(FBN1):c.1625A>G (p.Asn542Ser) rs963564435
NM_000138.5(FBN1):c.1628A>T (p.Asn543Ile) rs1060501098
NM_000138.5(FBN1):c.1630G>A (p.Gly544Arg) rs1555400063
NM_000138.5(FBN1):c.1630G>C (p.Gly544Arg) rs1555400063
NM_000138.5(FBN1):c.1633C>T (p.Arg545Cys) rs730880099
NM_000138.5(FBN1):c.1637G>A (p.Cys546Tyr)
NM_000138.5(FBN1):c.1638C>A (p.Cys546Ter) rs2141323411
NM_000138.5(FBN1):c.1639A>C (p.Ile547Leu)
NM_000138.5(FBN1):c.164+13G>T
NM_000138.5(FBN1):c.164+16C>T
NM_000138.5(FBN1):c.164+1G>A rs794728213
NM_000138.5(FBN1):c.164+1del rs1555407399
NM_000138.5(FBN1):c.164+3A>C rs1597652265
NM_000138.5(FBN1):c.1640T>A (p.Ile547Asn) rs112269822
NM_000138.5(FBN1):c.1641C>A (p.Ile547=) rs2141323402
NM_000138.5(FBN1):c.1643A>T (p.Asn548Ile) rs137854462
NM_000138.5(FBN1):c.164G>A (p.Gly55Glu) rs2140787387
NM_000138.5(FBN1):c.165-14T>A
NM_000138.5(FBN1):c.165-1G>C
NM_000138.5(FBN1):c.165-2A>C rs754351718
NM_000138.5(FBN1):c.165-3del rs1436066063
NM_000138.5(FBN1):c.165-8T>G rs750029122
NM_000138.5(FBN1):c.1657T>A (p.Phe553Ile) rs2043746162
NM_000138.5(FBN1):c.1661A>C (p.His554Pro)
NM_000138.5(FBN1):c.1662T>C (p.His554=)
NM_000138.5(FBN1):c.1663T>C (p.Cys555Arg) rs2043746138
NM_000138.5(FBN1):c.1664G>A (p.Cys555Tyr) rs794728172
NM_000138.5(FBN1):c.1664G>T (p.Cys555Phe) rs794728172
NM_000138.5(FBN1):c.1665C>A (p.Cys555Ter) rs531101773
NM_000138.5(FBN1):c.1665C>G (p.Cys555Trp) rs531101773
NM_000138.5(FBN1):c.1666G>A (p.Val556Met) rs1239988676
NM_000138.5(FBN1):c.1667_1677del (p.Val556fs)
NM_000138.5(FBN1):c.1670G>A (p.Cys557Tyr) rs1057521102
NM_000138.5(FBN1):c.1670G>T (p.Cys557Phe) rs1057521102
NM_000138.5(FBN1):c.1671T>G (p.Cys557Trp) rs2141323336
NM_000138.5(FBN1):c.1674T>C (p.Asn558=) rs2141323328
NM_000138.5(FBN1):c.1678G>A (p.Gly560Ser) rs1064794283
NM_000138.5(FBN1):c.1678G>T (p.Gly560Cys) rs1064794283
NM_000138.5(FBN1):c.1679G>A (p.Gly560Asp) rs1555400052
NM_000138.5(FBN1):c.1679G>T (p.Gly560Val) rs1555400052
NM_000138.5(FBN1):c.1690dup (p.Thr564fs)
NM_000138.5(FBN1):c.1693C>G (p.Arg565Gly)
NM_000138.5(FBN1):c.169A>G (p.Asn57Asp) rs2044669685
NM_000138.5(FBN1):c.1708T>C (p.Cys570Arg) rs113902534
NM_000138.5(FBN1):c.1709G>A (p.Cys570Tyr) rs1555400049
NM_000138.5(FBN1):c.1709G>C (p.Cys570Ser) rs1555400049
NM_000138.5(FBN1):c.170A>G (p.Asn57Ser) rs2044669666
NM_000138.5(FBN1):c.1710T>G (p.Cys570Trp) rs193922183
NM_000138.5(FBN1):c.1713A>G (p.Glu571=)
NM_000138.5(FBN1):c.1714+11T>C
NM_000138.5(FBN1):c.1714+13T>A
NM_000138.5(FBN1):c.1714+14A>G
NM_000138.5(FBN1):c.1714+2T>C rs2141323212
NM_000138.5(FBN1):c.1714+4A>G rs1189850321
NM_000138.5(FBN1):c.1714+5T>C rs2043745384
NM_000138.5(FBN1):c.1714+7A>G
NM_000138.5(FBN1):c.1714G>A (p.Asp572Asn) rs2141323230
NM_000138.5(FBN1):c.1715-10G>A rs764128146
NM_000138.5(FBN1):c.1715-15G>A
NM_000138.5(FBN1):c.1715-17A>G
NM_000138.5(FBN1):c.1715-2A>G rs2043733370
NM_000138.5(FBN1):c.1715-8A>G rs1555399978
NM_000138.5(FBN1):c.1715-9T>A rs1057520813
NM_000138.5(FBN1):c.1715-9T>C
NM_000138.5(FBN1):c.1715A>G (p.Asp572Gly) rs1555399976
NM_000138.5(FBN1):c.1717A>G (p.Met573Val)
NM_000138.5(FBN1):c.1723G>A (p.Glu575Lys) rs1259811604
NM_000138.5(FBN1):c.1726T>G (p.Cys576Gly) rs794728174
NM_000138.5(FBN1):c.1727G>A (p.Cys576Tyr) rs1555399974
NM_000138.5(FBN1):c.1728C>G (p.Cys576Trp) rs2043733087
NM_000138.5(FBN1):c.1732A>G (p.Ile578Val)
NM_000138.5(FBN1):c.1733T>G (p.Ile578Arg)
NM_000138.5(FBN1):c.1741A>G (p.Met581Val)
NM_000138.5(FBN1):c.1744T>C (p.Cys582Arg) rs2141321636
NM_000138.5(FBN1):c.1744T>G (p.Cys582Gly)
NM_000138.5(FBN1):c.1745G>A (p.Cys582Tyr) rs2141321627
NM_000138.5(FBN1):c.1753G>A (p.Gly585Arg) rs1085307528
NM_000138.5(FBN1):c.1754G>C (p.Gly585Ala) rs1060501041
NM_000138.5(FBN1):c.1759T>G (p.Cys587Gly) rs1555399968
NM_000138.5(FBN1):c.175T>C (p.Cys59Arg) rs2140737589
NM_000138.5(FBN1):c.1761T>C (p.Cys587=) rs1060504143
NM_000138.5(FBN1):c.1761T>G (p.Cys587Trp)
NM_000138.5(FBN1):c.1766A>G (p.Asn589Ser) rs1555399962
NM_000138.5(FBN1):c.1782_1783insSVAelement
NM_000138.5(FBN1):c.1782del (p.Phe594fs) rs1597577114
NM_000138.5(FBN1):c.1786T>C (p.Cys596Arg) rs1057520131
NM_000138.5(FBN1):c.1786T>G (p.Cys596Gly) rs1057520131
NM_000138.5(FBN1):c.1787G>A (p.Cys596Tyr) rs2043732180
NM_000138.5(FBN1):c.1788T>A (p.Cys596Ter) rs2141321569
NM_000138.5(FBN1):c.1791T>C (p.Ile597=)
NM_000138.5(FBN1):c.1792T>C (p.Cys598Arg)
NM_000138.5(FBN1):c.1792T>G (p.Cys598Gly) rs2141321553
NM_000138.5(FBN1):c.1792del (p.Cys598fs) rs2141321558
NM_000138.5(FBN1):c.1793G>T (p.Cys598Phe) rs1555399955
NM_000138.5(FBN1):c.1805T>G (p.Phe602Cys)
NM_000138.5(FBN1):c.1809del (p.Gln603fs)
NM_000138.5(FBN1):c.1815A>G (p.Ala605=) rs2141321499
NM_000138.5(FBN1):c.1822G>T (p.Gly608Ter)
NM_000138.5(FBN1):c.1823G>A (p.Gly608Glu) rs368283028
NM_000138.5(FBN1):c.182C>G (p.Ser61Ter)
NM_000138.5(FBN1):c.1830T>C (p.Tyr610=) rs1247219658
NM_000138.5(FBN1):c.1831T>C (p.Cys611Arg) rs1555399944
NM_000138.5(FBN1):c.1835A>G (p.Lys612Arg)
NM_000138.5(FBN1):c.1836_1837+2delinsGGG rs2043731288
NM_000138.5(FBN1):c.1837+12A>G
NM_000138.5(FBN1):c.1837+1G>T rs397515762
NM_000138.5(FBN1):c.1837+5G>A rs1445085747
NM_000138.5(FBN1):c.1837G>A (p.Asp613Asn) rs1555399943
NM_000138.5(FBN1):c.1838-17G>A
NM_000138.5(FBN1):c.1838-17G>T
NM_000138.5(FBN1):c.1838-2A>G rs2141317516
NM_000138.5(FBN1):c.1846G>A (p.Glu616Lys) rs397515764
NM_000138.5(FBN1):c.1846G>C (p.Glu616Gln)
NM_000138.5(FBN1):c.1847A>G (p.Glu616Gly) rs25457
NM_000138.5(FBN1):c.1847del (p.Glu616fs) rs2141317487
NM_000138.5(FBN1):c.1849T>C (p.Cys617Arg) rs1060501017
NM_000138.5(FBN1):c.1849T>G (p.Cys617Gly) rs1060501017
NM_000138.5(FBN1):c.1849_1851del (p.Cys617del) rs2141317465
NM_000138.5(FBN1):c.184C>T (p.Arg62Cys) rs25403
NM_000138.5(FBN1):c.1850G>A (p.Cys617Tyr) rs1555399836
NM_000138.5(FBN1):c.1850G>C (p.Cys617Ser) rs1555399836
NM_000138.5(FBN1):c.1855del (p.Thr619fs) rs2141317454
NM_000138.5(FBN1):c.1859del (p.Pro620fs)
NM_000138.5(FBN1):c.1860del (p.Ile622fs) rs2141317442
NM_000138.5(FBN1):c.1862G>A (p.Gly621Glu) rs1555399833
NM_000138.5(FBN1):c.1867_1868delinsCT (p.Cys623Leu) rs2043697829
NM_000138.5(FBN1):c.1868G>A (p.Cys623Tyr) rs1566914030
NM_000138.5(FBN1):c.1871T>C (p.Met624Thr) rs1597575080
NM_000138.5(FBN1):c.1871T>G (p.Met624Arg) rs1597575080
NM_000138.5(FBN1):c.1875_1876inv (p.Gly626Arg)
NM_000138.5(FBN1):c.1882T>C (p.Cys628Arg) rs2141317350
NM_000138.5(FBN1):c.1883G>A (p.Cys628Tyr) rs1555399825
NM_000138.5(FBN1):c.1884C>G (p.Cys628Trp) rs150421653
NM_000138.5(FBN1):c.188A>G (p.Tyr63Cys) rs1303389437
NM_000138.5(FBN1):c.1891A>C (p.Thr631Pro) rs2043697314
NM_000138.5(FBN1):c.1897G>T (p.Gly633Cys) rs2141317297
NM_000138.5(FBN1):c.1900T>C (p.Ser634Pro) rs1566914005
NM_000138.5(FBN1):c.1904A>G (p.Tyr635Cys) rs1555399816
NM_000138.5(FBN1):c.1908A>G (p.Arg636=) rs886039089
NM_000138.5(FBN1):c.1908A>T (p.Arg636Ser)
NM_000138.5(FBN1):c.1910G>A (p.Cys637Tyr) rs1478695794
NM_000138.5(FBN1):c.1912G>A (p.Glu638Lys) rs2141317254
NM_000138.5(FBN1):c.1915T>A (p.Cys639Ser) rs1060501078
NM_000138.5(FBN1):c.1915T>C (p.Cys639Arg) rs1060501078
NM_000138.5(FBN1):c.1916G>A (p.Cys639Tyr) rs878853676
NM_000138.5(FBN1):c.1916G>T (p.Cys639Phe) rs878853676
NM_000138.5(FBN1):c.1916_1917delinsTG (p.Cys639Leu) rs2043696899
NM_000138.5(FBN1):c.1929_1930delinsTT (p.Ala644Ser) rs1555399812
NM_000138.5(FBN1):c.192T>C (p.Asn64=)
NM_000138.5(FBN1):c.1939C>G (p.Leu647Val)
NM_000138.5(FBN1):c.1940T>C (p.Leu647Pro) rs1566913983
NM_000138.5(FBN1):c.1942del (p.Asp648fs)
NM_000138.5(FBN1):c.1944T>A (p.Asp648Glu) rs2141317175
NM_000138.5(FBN1):c.1947C>T (p.Gly649=) rs2141317155
NM_000138.5(FBN1):c.1948C>T (p.Arg650Cys) rs193922185
NM_000138.5(FBN1):c.1948del (p.Arg650fs) rs1566913982
NM_000138.5(FBN1):c.1954T>C (p.Cys652Arg) rs2043696438
NM_000138.5(FBN1):c.1955G>A (p.Cys652Tyr) rs2043696418
NM_000138.5(FBN1):c.195T>C (p.Ala65=) rs759873157
NM_000138.5(FBN1):c.1960+14A>G
NM_000138.5(FBN1):c.1960+15T>C
NM_000138.5(FBN1):c.1960+6A>T rs1200860234
NM_000138.5(FBN1):c.1960+9A>G
NM_000138.5(FBN1):c.1960G>A (p.Asp654Asn)
NM_000138.5(FBN1):c.1960G>C (p.Asp654His) rs1566913969
NM_000138.5(FBN1):c.1961-18A>G
NM_000138.5(FBN1):c.1961-1G>A rs2043686634
NM_000138.5(FBN1):c.1961-3T>C
NM_000138.5(FBN1):c.1961-5T>C rs919746497
NM_000138.5(FBN1):c.1962C>T (p.Asp654=)
NM_000138.5(FBN1):c.1963A>G (p.Thr655Ala)
NM_000138.5(FBN1):c.1967A>G (p.His656Arg) rs1555399777
NM_000138.5(FBN1):c.1968_1969del (p.Met657fs) rs1555399775
NM_000138.5(FBN1):c.1970T>C (p.Met657Thr) rs2043686451
NM_000138.5(FBN1):c.1973G>A (p.Arg658Gln) rs794728181
NM_000138.5(FBN1):c.197A>T (p.Tyr66Phe)
NM_000138.5(FBN1):c.1980A>G (p.Thr660=) rs531454879
NM_000138.5(FBN1):c.1981dup (p.Cys661fs) rs2043686222
NM_000138.5(FBN1):c.1982G>A (p.Cys661Tyr) rs1060501086
NM_000138.5(FBN1):c.1983C>G (p.Cys661Trp) rs765018527
NM_000138.5(FBN1):c.1984T>G (p.Tyr662Asp)
NM_000138.5(FBN1):c.198C>G (p.Tyr66Ter) rs2044669179
NM_000138.5(FBN1):c.198C>T (p.Tyr66=) rs2044669179
NM_000138.5(FBN1):c.1992A>C (p.Gly664=)
NM_000138.5(FBN1):c.1995C>G (p.Tyr665Ter) rs2141315893
NM_000138.5(FBN1):c.1998G>A (p.Lys666=)
NM_000138.5(FBN1):c.1999A>T (p.Arg667Ter) rs2043685929
NM_000138.5(FBN1):c.199T>C (p.Cys67Arg) rs2140737496
NM_000138.5(FBN1):c.1A>G (p.Met1Val) rs730880097
NM_000138.5(FBN1):c.1A>T (p.Met1Leu) rs730880097
NM_000138.5(FBN1):c.2003delinsTGTAT (p.Gly668fs) rs1555399770
NM_000138.5(FBN1):c.2004C>T (p.Gly668=)
NM_000138.5(FBN1):c.2005C>T (p.Gln669Ter)
NM_000138.5(FBN1):c.2006A>C (p.Gln669Pro)
NM_000138.5(FBN1):c.2007G>A (p.Gln669=)
NM_000138.5(FBN1):c.2009_2018delinsTTGGTGCT (p.Cys670fs)
NM_000138.5(FBN1):c.200G>T (p.Cys67Phe) rs2044669166
NM_000138.5(FBN1):c.2021del (p.Leu674fs)
NM_000138.5(FBN1):c.2022G>A (p.Leu674=)
NM_000138.5(FBN1):c.2022G>C (p.Leu674Phe) rs794728182
NM_000138.5(FBN1):c.2022G>T (p.Leu674Phe) rs794728182
NM_000138.5(FBN1):c.2023_2026del (p.Phe675fs) rs886041349
NM_000138.5(FBN1):c.2026G>T (p.Gly676Cys) rs2141315849
NM_000138.5(FBN1):c.2028_2029insA (p.Ala677fs) rs1060501027
NM_000138.5(FBN1):c.202dup (p.Cys68fs)
NM_000138.5(FBN1):c.2031T>C (p.Ala677=)
NM_000138.5(FBN1):c.203G>A (p.Cys68Tyr) rs1597633163
NM_000138.5(FBN1):c.203G>T (p.Cys68Phe) rs1597633163
NM_000138.5(FBN1):c.2044G>C (p.Glu682Gln) rs908212152
NM_000138.5(FBN1):c.2049C>G (p.Cys683Trp)
NM_000138.5(FBN1):c.2050T>C (p.Cys684Arg) rs1555399764
NM_000138.5(FBN1):c.2051G>A (p.Cys684Tyr) rs1555399763
NM_000138.5(FBN1):c.2051G>T (p.Cys684Phe) rs1555399763
NM_000138.5(FBN1):c.2053T>A (p.Cys685Ser) rs1597574236
NM_000138.5(FBN1):c.2054G>A (p.Cys685Tyr) rs1555399761
NM_000138.5(FBN1):c.2054dup (p.Cys685fs) rs2141315799
NM_000138.5(FBN1):c.2055C>G (p.Cys685Trp) rs140603
NM_000138.5(FBN1):c.2058_2063del (p.Ser687_Thr688del) rs794728298
NM_000138.5(FBN1):c.2063_2064del (p.Thr688fs)
NM_000138.5(FBN1):c.2067G>A (p.Glu689=)
NM_000138.5(FBN1):c.2071G>C (p.Ala691Pro) rs794728183
NM_000138.5(FBN1):c.2080G>T (p.Glu694Ter) rs1060501024
NM_000138.5(FBN1):c.2084C>A (p.Pro695His) rs1555399754
NM_000138.5(FBN1):c.2085T>C (p.Pro695=) rs2141315721
NM_000138.5(FBN1):c.2086T>G (p.Cys696Gly) rs2141315718
NM_000138.5(FBN1):c.2087G>T (p.Cys696Phe) rs1566913685
NM_000138.5(FBN1):c.2087del (p.Cys696fs) rs2043684490
NM_000138.5(FBN1):c.2088C>A (p.Cys696Ter) rs2141315709
NM_000138.5(FBN1):c.2089C>T (p.Gln697Ter) rs1060501082
NM_000138.5(FBN1):c.208G>A (p.Gly70Arg) rs2044669023
NM_000138.5(FBN1):c.2094G>A (p.Pro698=) rs144775475
NM_000138.5(FBN1):c.2096G>C (p.Cys699Ser) rs2043684108
NM_000138.5(FBN1):c.2099C>T (p.Pro700Leu) rs2141315649
NM_000138.5(FBN1):c.2099del (p.Pro700fs) rs1597574166
NM_000138.5(FBN1):c.209G>T (p.Gly70Val)
NM_000138.5(FBN1):c.2100T>C (p.Pro700=)
NM_000138.5(FBN1):c.2103A>G (p.Ala701=) rs2141315644
NM_000138.5(FBN1):c.210A>T (p.Gly70=)
NM_000138.5(FBN1):c.2111C>G (p.Ser704Ter) rs2043683891
NM_000138.5(FBN1):c.2112A>C (p.Ser704=)
NM_000138.5(FBN1):c.2112A>T (p.Ser704=)
NM_000138.5(FBN1):c.2113+18_2113+19delinsAT
NM_000138.5(FBN1):c.2113+1G>A rs1566913670
NM_000138.5(FBN1):c.2113+1G>C rs1566913670
NM_000138.5(FBN1):c.2113+1G>T rs1566913670
NM_000138.5(FBN1):c.2113+2T>G rs730880105
NM_000138.5(FBN1):c.2113+4T>C rs2141315610
NM_000138.5(FBN1):c.2113G>A (p.Ala705Thr) rs1597574156
NM_000138.5(FBN1):c.2114-15G>C rs1566912665
NM_000138.5(FBN1):c.2114-1G>A
NM_000138.5(FBN1):c.2114-20T>C
NM_000138.5(FBN1):c.2114-2A>C rs886041440
NM_000138.5(FBN1):c.2114-5T>G
NM_000138.5(FBN1):c.2114-7A>G
NM_000138.5(FBN1):c.2114C>T (p.Ala705Val) rs1426292408
NM_000138.5(FBN1):c.2116G>T (p.Glu706Ter) rs2141308933
NM_000138.5(FBN1):c.211T>A (p.Trp71Arg) rs1555405658
NM_000138.5(FBN1):c.211T>C (p.Trp71Arg) rs1555405658
NM_000138.5(FBN1):c.211T>G (p.Trp71Gly) rs1555405658
NM_000138.5(FBN1):c.2131T>A (p.Cys711Ser) rs1555399481
NM_000138.5(FBN1):c.2132G>A (p.Cys711Tyr)
NM_000138.5(FBN1):c.2132G>T (p.Cys711Phe)
NM_000138.5(FBN1):c.213G>A (p.Trp71Ter)
NM_000138.5(FBN1):c.2140G>A (p.Gly714Arg) rs1566912644
NM_000138.5(FBN1):c.2140G>C (p.Gly714Arg) rs1566912644
NM_000138.5(FBN1):c.2141G>A (p.Gly714Glu) rs2141308882
NM_000138.5(FBN1):c.2143_2161del (p.Pro715fs) rs1597571360
NM_000138.5(FBN1):c.2144C>T (p.Pro715Leu)
NM_000138.5(FBN1):c.2147G>A (p.Gly716Glu) rs794728185
NM_000138.5(FBN1):c.2149_2150insGA (p.Met717fs) rs2043633143
NM_000138.5(FBN1):c.2167+19A>C
NM_000138.5(FBN1):c.2167+1G>A rs2141308781
NM_000138.5(FBN1):c.2167+2dup rs2043632840
NM_000138.5(FBN1):c.2167+4A>G rs2141308773
NM_000138.5(FBN1):c.2168-11T>C
NM_000138.5(FBN1):c.2168-15T>G
NM_000138.5(FBN1):c.2168-15dup rs762586890
NM_000138.5(FBN1):c.2168-1G>C rs1555399387
NM_000138.5(FBN1):c.2168-1G>T rs1555399387
NM_000138.5(FBN1):c.2168-4G>A rs2141306607
NM_000138.5(FBN1):c.2168-9G>T rs747772665
NM_000138.5(FBN1):c.2168A>C (p.Asp723Ala) rs137854463
NM_000138.5(FBN1):c.2170A>G (p.Ile724Val)
NM_000138.5(FBN1):c.2171T>A (p.Ile724Lys)
NM_000138.5(FBN1):c.2171T>C (p.Ile724Thr) rs878853677
NM_000138.5(FBN1):c.2176G>C (p.Glu726Gln) rs2141306581
NM_000138.5(FBN1):c.2177A>G (p.Glu726Gly)
NM_000138.5(FBN1):c.2179T>A (p.Cys727Ser) rs1064794025
NM_000138.5(FBN1):c.217del (p.Thr73fs) rs2140737430
NM_000138.5(FBN1):c.2180G>A (p.Cys727Tyr) rs1555399381
NM_000138.5(FBN1):c.2187A>G (p.Leu729=) rs61730055
NM_000138.5(FBN1):c.2191C>G (p.Pro731Ala)
NM_000138.5(FBN1):c.2201G>A (p.Cys734Tyr) rs794728187
NM_000138.5(FBN1):c.2206A>G (p.Asn736Asp) rs878853678
NM_000138.5(FBN1):c.2207A>G (p.Asn736Ser) rs1566912242
NM_000138.5(FBN1):c.2213dup (p.Cys739fs) rs1555399379
NM_000138.5(FBN1):c.2214_2217del (p.Ile738fs)
NM_000138.5(FBN1):c.2219A>C (p.Glu740Ala) rs2043616665
NM_000138.5(FBN1):c.2222A>G (p.Asn741Ser)
NM_000138.5(FBN1):c.2222del (p.Asn741fs)
NM_000138.5(FBN1):c.2223C>A (p.Asn741Lys)
NM_000138.5(FBN1):c.2237A>G (p.Tyr746Cys) rs1555399372
NM_000138.5(FBN1):c.223C>T (p.Pro75Ser) rs886051252
NM_000138.5(FBN1):c.2241A>G (p.Lys747=) rs1045070535
NM_000138.5(FBN1):c.2242T>C (p.Cys748Arg) rs397515765
NM_000138.5(FBN1):c.2243G>A (p.Cys748Tyr) rs1064794282
NM_000138.5(FBN1):c.2245A>C (p.Ile749Leu)
NM_000138.5(FBN1):c.2245A>G (p.Ile749Val) rs1555399370
NM_000138.5(FBN1):c.2248T>C (p.Cys750Arg) rs1555399368
NM_000138.5(FBN1):c.2249G>A (p.Cys750Tyr) rs2043616369
NM_000138.5(FBN1):c.2249G>T (p.Cys750Phe)
NM_000138.5(FBN1):c.2254_2256del (p.Ser752del) rs2043616319
NM_000138.5(FBN1):c.2258G>A (p.Gly753Glu) rs1555399365
NM_000138.5(FBN1):c.2258G>T (p.Gly753Val) rs1555399365
NM_000138.5(FBN1):c.2261A>G (p.Tyr754Cys) rs137854479
NM_000138.5(FBN1):c.2268G>A (p.Val756=) rs2141306354
NM_000138.5(FBN1):c.2269del (p.Asp757fs) rs1064793636
NM_000138.5(FBN1):c.2273C>G (p.Ser758Ter)
NM_000138.5(FBN1):c.2275A>G (p.Thr759Ala) rs2141306342
NM_000138.5(FBN1):c.2277T>C (p.Thr759=) rs1028807052
NM_000138.5(FBN1):c.2277T>G (p.Thr759=)
NM_000138.5(FBN1):c.2286C>G (p.Asn762Lys) rs2043616066
NM_000138.5(FBN1):c.2287T>C (p.Cys763Arg) rs1555399361
NM_000138.5(FBN1):c.2289C>A (p.Cys763Ter)
NM_000138.5(FBN1):c.2289C>G (p.Cys763Trp) rs181311020
NM_000138.5(FBN1):c.228C>G (p.Gly76=) rs141651917
NM_000138.5(FBN1):c.2292del (p.Asp765fs) rs2141306307
NM_000138.5(FBN1):c.2293+14C>A
NM_000138.5(FBN1):c.2293+15C>T
NM_000138.5(FBN1):c.2293+17A>G
NM_000138.5(FBN1):c.2293+1G>A rs1060501092
NM_000138.5(FBN1):c.2293+8G>A
NM_000138.5(FBN1):c.2293+8G>T
NM_000138.5(FBN1):c.2294-11T>A
NM_000138.5(FBN1):c.2294-18T>C
NM_000138.5(FBN1):c.2294-20T>C
NM_000138.5(FBN1):c.2294-3C>A
NM_000138.5(FBN1):c.2294-6_2294-5del rs2043607725
NM_000138.5(FBN1):c.2294-9_2294-4del rs1597569681
NM_000138.5(FBN1):c.2296A>G (p.Ile766Val)
NM_000138.5(FBN1):c.2296del (p.Ile766fs) rs2141305162
NM_000138.5(FBN1):c.2298_2301del (p.Ile766fs) rs1555399281
NM_000138.5(FBN1):c.229G>A (p.Gly77Arg) rs794728290
NM_000138.5(FBN1):c.2302G>A (p.Glu768Lys)
NM_000138.5(FBN1):c.2302G>T (p.Glu768Ter)
NM_000138.5(FBN1):c.2303A>C (p.Glu768Ala) rs794728189
NM_000138.5(FBN1):c.2305T>C (p.Cys769Arg) rs1060501022
NM_000138.5(FBN1):c.2306G>A (p.Cys769Tyr) rs794728190
NM_000138.5(FBN1):c.2306G>T (p.Cys769Phe) rs794728190
NM_000138.5(FBN1):c.2311C>G (p.Leu771Val) rs2043607479
NM_000138.5(FBN1):c.2315A>G (p.Asn772Ser) rs2043607383
NM_000138.5(FBN1):c.2335G>A (p.Gly779Arg)
NM_000138.5(FBN1):c.2339A>C (p.Gln780Pro) rs886039058
NM_000138.5(FBN1):c.2340A>G (p.Gln780=)
NM_000138.5(FBN1):c.2340del (p.Gln780fs) rs1566911942
NM_000138.5(FBN1):c.2341T>G (p.Cys781Gly)
NM_000138.5(FBN1):c.2342G>A (p.Cys781Tyr) rs1555399271
NM_000138.5(FBN1):c.2343T>C (p.Cys781=) rs199647257
NM_000138.5(FBN1):c.2343T>G (p.Cys781Trp)
NM_000138.5(FBN1):c.2348_2359del (p.Asn783_Gly786del) rs2043606899
NM_000138.5(FBN1):c.2349T>A (p.Asn783Lys) rs1057522903
NM_000138.5(FBN1):c.2352T>A (p.Thr784=) rs2141305065
NM_000138.5(FBN1):c.2353_2355del (p.Pro785del) rs1597569606
NM_000138.5(FBN1):c.2368T>C (p.Cys790Arg) rs1555399270
NM_000138.5(FBN1):c.2368T>G (p.Cys790Gly)
NM_000138.5(FBN1):c.2369G>A (p.Cys790Tyr) rs193922188
NM_000138.5(FBN1):c.2369G>T (p.Cys790Phe) rs193922188
NM_000138.5(FBN1):c.2375G>A (p.Cys792Tyr) rs886038984
NM_000138.5(FBN1):c.2376C>T (p.Cys792=) rs1060504142
NM_000138.5(FBN1):c.2377C>T (p.Pro793Ser)
NM_000138.5(FBN1):c.2379dup (p.Lys794fs) rs1597569589
NM_000138.5(FBN1):c.237G>A (p.Gln79=)
NM_000138.5(FBN1):c.2384G>A (p.Gly795Glu)
NM_000138.5(FBN1):c.2384del (p.Gly795fs) rs1566911908
NM_000138.5(FBN1):c.2385A>G (p.Gly795=) rs1207115566
NM_000138.5(FBN1):c.2385A>T (p.Gly795=)
NM_000138.5(FBN1):c.238T>C (p.Cys80Arg) rs111764111
NM_000138.5(FBN1):c.2391C>T (p.Ile797=) rs2141304992
NM_000138.5(FBN1):c.2397A>G (p.Lys799=)
NM_000138.5(FBN1):c.239G>A (p.Cys80Tyr) rs397515767
NM_000138.5(FBN1):c.2404C>T (p.Leu802=)
NM_000138.5(FBN1):c.2410dup (p.Thr804fs) rs1597569560
NM_000138.5(FBN1):c.2411C>T (p.Thr804Ile)
NM_000138.5(FBN1):c.2412_2413del (p.Thr804_Cys805insTer) rs397515769
NM_000138.5(FBN1):c.2413T>C (p.Cys805Arg) rs2043606316
NM_000138.5(FBN1):c.2414G>A (p.Cys805Tyr) rs1597569553
NM_000138.5(FBN1):c.2415T>G (p.Cys805Trp) rs1597569551
NM_000138.5(FBN1):c.2416G>A (p.Glu806Lys) rs1555399258
NM_000138.5(FBN1):c.2418A>G (p.Glu806=) rs794728191
NM_000138.5(FBN1):c.2419+16G>C
NM_000138.5(FBN1):c.2419G>A (p.Asp807Asn) rs1566911886
NM_000138.5(FBN1):c.2420-2A>G rs1060501052
NM_000138.5(FBN1):c.2420-8T>A rs140582
NM_000138.5(FBN1):c.2422del (p.Ile808fs)
NM_000138.5(FBN1):c.2431T>C (p.Cys811Arg)
NM_000138.5(FBN1):c.2432G>A (p.Cys811Tyr) rs1555399210
NM_000138.5(FBN1):c.2433C>G (p.Cys811Trp) rs193921256
NM_000138.5(FBN1):c.2446T>C (p.Cys816Arg) rs1555399206
NM_000138.5(FBN1):c.2447G>A (p.Cys816Tyr)
NM_000138.5(FBN1):c.244G>A (p.Val82Ile)
NM_000138.5(FBN1):c.2451T>G (p.Ile817Met)
NM_000138.5(FBN1):c.2458G>T (p.Val820Phe)
NM_000138.5(FBN1):c.2459T>C (p.Val820Ala)
NM_000138.5(FBN1):c.2462G>A (p.Cys821Tyr) rs2043600123
NM_000138.5(FBN1):c.246C>G (p.Val82=)
NM_000138.5(FBN1):c.247+1G>A rs25404
NM_000138.5(FBN1):c.247+20G>A rs2140737315
NM_000138.5(FBN1):c.247+3A>C rs201854371
NM_000138.5(FBN1):c.247+5G>A rs2044668542
NM_000138.5(FBN1):c.247+5G>C
NM_000138.5(FBN1):c.247+9A>C rs1298547542
NM_000138.5(FBN1):c.247+9A>G rs1298547542
NM_000138.5(FBN1):c.2473C>T (p.Pro825Ser)
NM_000138.5(FBN1):c.2479T>C (p.Ser827Pro) rs193922189
NM_000138.5(FBN1):c.247C>T (p.Pro83Ser)
NM_000138.5(FBN1):c.248-4A>G rs1597631751
NM_000138.5(FBN1):c.2480C>G (p.Ser827Cys) rs375382957
NM_000138.5(FBN1):c.2483_2500del (p.Phe828_Ser833del) rs2141304189
NM_000138.5(FBN1):c.2489G>C (p.Cys830Ser) rs397515774
NM_000138.5(FBN1):c.2489G>T (p.Cys830Phe)
NM_000138.5(FBN1):c.2489_2492del (p.Cys830fs) rs2141304207
NM_000138.5(FBN1):c.248C>T (p.Pro83Leu) rs1206249804
NM_000138.5(FBN1):c.2493A>G (p.Glu831=) rs756410019
NM_000138.5(FBN1):c.2494T>C (p.Cys832Arg)
NM_000138.5(FBN1):c.2495G>A (p.Cys832Tyr) rs397515775
NM_000138.5(FBN1):c.2495G>C (p.Cys832Ser) rs397515775
NM_000138.5(FBN1):c.2495G>T (p.Cys832Phe) rs397515775
NM_000138.5(FBN1):c.2496T>G (p.Cys832Trp) rs397515776
NM_000138.5(FBN1):c.2506del (p.Ser836fs) rs1566911709
NM_000138.5(FBN1):c.2508T>C (p.Ser836=) rs193922190
NM_000138.5(FBN1):c.2513del (p.Leu838fs) rs2141304158
NM_000138.5(FBN1):c.2515G>A (p.Asp839Asn)
NM_000138.5(FBN1):c.2519C>A (p.Pro840Gln)
NM_000138.5(FBN1):c.2521A>T (p.Thr841Ser) rs1381506466
NM_000138.5(FBN1):c.2524A>T (p.Lys842Ter) rs886038941
NM_000138.5(FBN1):c.2527del (p.Thr843fs) rs2043598968
NM_000138.5(FBN1):c.2529C>T (p.Thr843=)
NM_000138.5(FBN1):c.2539+10T>A rs878853679
NM_000138.5(FBN1):c.2539+10T>C rs878853679
NM_000138.5(FBN1):c.2539+11T>C
NM_000138.5(FBN1):c.2539+13C>T
NM_000138.5(FBN1):c.2539+17G>A
NM_000138.5(FBN1):c.2539+19A>T rs370949913
NM_000138.5(FBN1):c.2539+1G>A rs794728192
NM_000138.5(FBN1):c.2539+1G>C rs794728192
NM_000138.5(FBN1):c.2539+6T>G rs2043598669
NM_000138.5(FBN1):c.2539+9C>T rs765271763
NM_000138.5(FBN1):c.2540-10T>A
NM_000138.5(FBN1):c.2542A>C (p.Thr848Pro) rs193922191
NM_000138.5(FBN1):c.2543C>A (p.Thr848Asn) rs878853680
NM_000138.5(FBN1):c.2543C>T (p.Thr848Ile) rs878853680
NM_000138.5(FBN1):c.2544C>T (p.Thr848=) rs2043596539
NM_000138.5(FBN1):c.2545A>G (p.Ile849Val) rs2043596507
NM_000138.5(FBN1):c.254G>A (p.Cys85Tyr)
NM_000138.5(FBN1):c.2551G>A (p.Gly851Ser) rs2141303833
NM_000138.5(FBN1):c.2554A>G (p.Thr852Ala) rs2141303822
NM_000138.5(FBN1):c.2559C>A (p.Cys853Ter) rs111981744
NM_000138.5(FBN1):c.2560T>C (p.Trp854Arg) rs2043596204
NM_000138.5(FBN1):c.2561G>C (p.Trp854Ser) rs1597568968
NM_000138.5(FBN1):c.2562G>A (p.Trp854Ter) rs1555399164
NM_000138.5(FBN1):c.2562G>T (p.Trp854Cys) rs1555399164
NM_000138.5(FBN1):c.2567C>T (p.Thr856Ile)
NM_000138.5(FBN1):c.2568T>C (p.Thr856=)
NM_000138.5(FBN1):c.256del (p.Arg86fs)
NM_000138.5(FBN1):c.257G>A (p.Arg86Gln) rs2044650738
NM_000138.5(FBN1):c.2581C>T (p.Arg861Ter) rs140583
NM_000138.5(FBN1):c.2584T>A (p.Cys862Ser) rs2043595650
NM_000138.5(FBN1):c.2584T>C (p.Cys862Arg) rs2043595650
NM_000138.5(FBN1):c.2585G>A (p.Cys862Tyr) rs1555399162
NM_000138.5(FBN1):c.258G>T (p.Arg86=)
NM_000138.5(FBN1):c.2595C>A (p.Asn865Lys)
NM_000138.5(FBN1):c.2597T>A (p.Ile866Asn)
NM_000138.5(FBN1):c.2601T>C (p.Asn867=)
NM_000138.5(FBN1):c.260A>G (p.His87Arg) rs1060501080
NM_000138.5(FBN1):c.2612T>C (p.Leu871Ser)
NM_000138.5(FBN1):c.2613A>G (p.Leu871=) rs770290542
NM_000138.5(FBN1):c.2615del (p.Lys872fs)
NM_000138.5(FBN1):c.2618C>T (p.Ser873Phe) rs2043595271
NM_000138.5(FBN1):c.2623T>A (p.Cys875Ser) rs1597568880
NM_000138.5(FBN1):c.2624G>A (p.Cys875Tyr) rs886039038
NM_000138.5(FBN1):c.2626T>C (p.Cys876Arg) rs1555399158
NM_000138.5(FBN1):c.2627G>A (p.Cys876Tyr) rs794728193
NM_000138.5(FBN1):c.2627_2628insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGTCCCAGTGCTG (p.Cys876fs)
NM_000138.5(FBN1):c.2628C>G (p.Cys876Trp) rs112085967
NM_000138.5(FBN1):c.2630C>T (p.Ser877Phe) rs1555399153
NM_000138.5(FBN1):c.2636T>C (p.Leu879Pro)
NM_000138.5(FBN1):c.2638G>A (p.Gly880Ser) rs794728194
NM_000138.5(FBN1):c.2638G>C (p.Gly880Arg) rs794728194
NM_000138.5(FBN1):c.2639G>C (p.Gly880Ala)
NM_000138.5(FBN1):c.2639G>T (p.Gly880Val) rs886038953
NM_000138.5(FBN1):c.2641G>A (p.Ala881Thr) rs781682561
NM_000138.5(FBN1):c.2644G>A (p.Ala882Thr) rs2043594915
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val) rs794728195
NM_000138.5(FBN1):c.2646G>A (p.Ala882=) rs376040442
NM_000138.5(FBN1):c.2646G>C (p.Ala882=) rs376040442
NM_000138.5(FBN1):c.2647T>C (p.Trp883Arg) rs1555399150
NM_000138.5(FBN1):c.2648G>A (p.Trp883Ter) rs2141303557
NM_000138.5(FBN1):c.2649G>A (p.Trp883Ter) rs1597568822
NM_000138.5(FBN1):c.2651G>A (p.Gly884Glu) rs1555399149
NM_000138.5(FBN1):c.2657C>T (p.Pro886Leu) rs1060501083
NM_000138.5(FBN1):c.2659T>A (p.Cys887Ser) rs2141303537
NM_000138.5(FBN1):c.2660G>A (p.Cys887Tyr) rs2043594601
NM_000138.5(FBN1):c.2660G>C (p.Cys887Ser)
NM_000138.5(FBN1):c.2662A>T (p.Thr888Ser)
NM_000138.5(FBN1):c.2664C>T (p.Thr888=) rs1597568804
NM_000138.5(FBN1):c.2665C>G (p.Leu889Val)
NM_000138.5(FBN1):c.2666T>A (p.Leu889Gln)
NM_000138.5(FBN1):c.2666T>C (p.Leu889Pro) rs1393818056
NM_000138.5(FBN1):c.2667A>G (p.Leu889=) rs780192241
NM_000138.5(FBN1):c.266G>A (p.Cys89Tyr) rs112660651
NM_000138.5(FBN1):c.266G>T (p.Cys89Phe) rs112660651
NM_000138.5(FBN1):c.2673A>G (p.Gln891=) rs1555399143
NM_000138.5(FBN1):c.2674G>A (p.Val892Ile)
NM_000138.5(FBN1):c.2677+14A>G
NM_000138.5(FBN1):c.2677+15T>C
NM_000138.5(FBN1):c.2677+16G>A
NM_000138.5(FBN1):c.2677+18T>G
NM_000138.5(FBN1):c.2677+1G>A
NM_000138.5(FBN1):c.2677+1del rs2141303466
NM_000138.5(FBN1):c.2677+3A>G rs1060501071
NM_000138.5(FBN1):c.2677+5G>A rs1085307946
NM_000138.5(FBN1):c.2677G>T (p.Asp893Tyr) rs193922193
NM_000138.5(FBN1):c.2678-10T>C rs1457653118
NM_000138.5(FBN1):c.2678-16del
NM_000138.5(FBN1):c.2678-1G>T
NM_000138.5(FBN1):c.2678-2A>G rs1555399101
NM_000138.5(FBN1):c.2678-8T>C
NM_000138.5(FBN1):c.2678-9T>A rs2141302502
NM_000138.5(FBN1):c.2682_2685del (p.Ile895fs) rs2141302451
NM_000138.5(FBN1):c.2685dup (p.Cys896fs)
NM_000138.5(FBN1):c.2686T>C (p.Cys896Arg) rs2043584517
NM_000138.5(FBN1):c.2687G>A (p.Cys896Tyr) rs2141302442
NM_000138.5(FBN1):c.2687G>C (p.Cys896Ser)
NM_000138.5(FBN1):c.2691T>C (p.Gly897=) rs1555399096
NM_000138.5(FBN1):c.2696G>C (p.Gly899Ala) rs1555399094
NM_000138.5(FBN1):c.2702C>T (p.Ser901Leu)
NM_000138.5(FBN1):c.2714G>A (p.Gly905Glu) rs1060501091
NM_000138.5(FBN1):c.2718A>G (p.Thr906=) rs2141302366
NM_000138.5(FBN1):c.2719C>T (p.Gln907Ter) rs1597568290
NM_000138.5(FBN1):c.2721A>G (p.Gln907=) rs781062880
NM_000138.5(FBN1):c.2721A>T (p.Gln907His) rs781062880
NM_000138.5(FBN1):c.2722T>C (p.Cys908Arg) rs1060501021
NM_000138.5(FBN1):c.2723G>C (p.Cys908Ser) rs1057523406
NM_000138.5(FBN1):c.2727A>G (p.Glu909=)
NM_000138.5(FBN1):c.2728+13A>G
NM_000138.5(FBN1):c.2728+14C>G
NM_000138.5(FBN1):c.2728+16T>G
NM_000138.5(FBN1):c.2728+18T>A
NM_000138.5(FBN1):c.2728+18T>C
NM_000138.5(FBN1):c.2728+1G>C rs794728322
NM_000138.5(FBN1):c.2728_2728+1delinsAA rs1566911331
NM_000138.5(FBN1):c.2729-11T>C
NM_000138.5(FBN1):c.2729-13T>G
NM_000138.5(FBN1):c.2729-14T>G
NM_000138.5(FBN1):c.2729-16T>C
NM_000138.5(FBN1):c.2729-17T>C
NM_000138.5(FBN1):c.2729-17dup rs35314876
NM_000138.5(FBN1):c.2729-19A>T
NM_000138.5(FBN1):c.2729-1G>A rs1487002781
NM_000138.5(FBN1):c.2729-3del rs756503206
NM_000138.5(FBN1):c.2729-7T>C rs1269178652
NM_000138.5(FBN1):c.2729-8C>A rs775257418
NM_000138.5(FBN1):c.2729-8C>T rs775257418
NM_000138.5(FBN1):c.2729-9del rs35314876
NM_000138.5(FBN1):c.2729A>T (p.Asp910Val) rs1284769637
NM_000138.5(FBN1):c.2736T>C (p.Asp912=)
NM_000138.5(FBN1):c.2736_2738del (p.Asp912del) rs1566910954
NM_000138.5(FBN1):c.2737G>A (p.Glu913Lys) rs1555398996
NM_000138.5(FBN1):c.2737G>T (p.Glu913Ter) rs1555398996
NM_000138.5(FBN1):c.2738A>C (p.Glu913Ala) rs1555398995
NM_000138.5(FBN1):c.2740T>C (p.Cys914Arg) rs1555398994
NM_000138.5(FBN1):c.2741G>A (p.Cys914Tyr) rs2141300503
NM_000138.5(FBN1):c.2743G>A (p.Glu915Lys) rs746834413
NM_000138.5(FBN1):c.2745del (p.Val916fs) rs2043569925
NM_000138.5(FBN1):c.2746G>C (p.Val916Leu) rs373644734
NM_000138.5(FBN1):c.274G>A (p.Gly92Arg) rs2140734026
NM_000138.5(FBN1):c.2752C>T (p.Pro918Ser) rs1555398992
NM_000138.5(FBN1):c.2758G>A (p.Val920Met)
NM_000138.5(FBN1):c.2762G>A (p.Cys921Tyr) rs2141300460
NM_000138.5(FBN1):c.2764A>T (p.Lys922Ter) rs2141300454
NM_000138.5(FBN1):c.2768del (p.Asn923fs) rs1597567246
NM_000138.5(FBN1):c.2776T>C (p.Cys926Arg) rs2141300401
NM_000138.5(FBN1):c.2777G>A (p.Cys926Tyr) rs1555398989
NM_000138.5(FBN1):c.2784C>T (p.Asn928=)
NM_000138.5(FBN1):c.2786C>T (p.Thr929Ile)
NM_000138.5(FBN1):c.2790G>A (p.Arg930=)
NM_000138.5(FBN1):c.2793del (p.Ser932fs) rs778900586
NM_000138.5(FBN1):c.2795C>G (p.Ser932Ter)
NM_000138.5(FBN1):c.2796A>G (p.Ser932=) rs1261762653
NM_000138.5(FBN1):c.2799C>T (p.Phe933=) rs2141300339
NM_000138.5(FBN1):c.27C>T (p.Ile9=) rs1057522209
NM_000138.5(FBN1):c.2801A>G (p.Lys934Arg)
NM_000138.5(FBN1):c.2803T>G (p.Cys935Gly)
NM_000138.5(FBN1):c.2806C>T (p.Gln936Ter) rs794728197
NM_000138.5(FBN1):c.2808G>A (p.Gln936=)
NM_000138.5(FBN1):c.2813C>T (p.Pro938Leu) rs758257941
NM_000138.5(FBN1):c.2817T>C (p.Ser939=) rs1254659886
NM_000138.5(FBN1):c.281G>A (p.Cys94Tyr)
NM_000138.5(FBN1):c.2833G>C (p.Ala945Pro)
NM_000138.5(FBN1):c.2848T>C (p.Cys950Arg) rs2141300266
NM_000138.5(FBN1):c.2850T>A (p.Cys950Ter)
NM_000138.5(FBN1):c.2854+10G>A rs768540741
NM_000138.5(FBN1):c.2854+11A>G
NM_000138.5(FBN1):c.2854+15C>T
NM_000138.5(FBN1):c.2854+1G>A
NM_000138.5(FBN1):c.2854+1G>T rs112809590
NM_000138.5(FBN1):c.2854+20T>C
NM_000138.5(FBN1):c.2854+2T>C rs2043568077
NM_000138.5(FBN1):c.2854+4A>G
NM_000138.5(FBN1):c.2854+7A>G
NM_000138.5(FBN1):c.2854+9T>G
NM_000138.5(FBN1):c.2854G>A (p.Asp952Asn) rs2141300251
NM_000138.5(FBN1):c.2855-11C>T
NM_000138.5(FBN1):c.2855-16T>C rs2141297617
NM_000138.5(FBN1):c.2855-18C>G
NM_000138.5(FBN1):c.2855-19C>T
NM_000138.5(FBN1):c.2855-2A>G rs2141297577
NM_000138.5(FBN1):c.2855-8T>C rs193922195
NM_000138.5(FBN1):c.2856T>C (p.Asp952=)
NM_000138.5(FBN1):c.2857dup (p.Ile953fs) rs1555398837
NM_000138.5(FBN1):c.2860C>T (p.Arg954Cys) rs1555398835
NM_000138.5(FBN1):c.2861G>A (p.Arg954His) rs112911555
NM_000138.5(FBN1):c.2861G>C (p.Arg954Pro) rs112911555
NM_000138.5(FBN1):c.2861G>T (p.Arg954Leu) rs112911555
NM_000138.5(FBN1):c.2873G>C (p.Cys958Ser) rs1555398834
NM_000138.5(FBN1):c.2876del (p.Phe959fs) rs2043545549
NM_000138.5(FBN1):c.2882G>A (p.Arg961Lys) rs886039100
NM_000138.5(FBN1):c.2884T>C (p.Tyr962His)
NM_000138.5(FBN1):c.2886C>A (p.Tyr962Ter) rs772108557
NM_000138.5(FBN1):c.2886C>G (p.Tyr962Ter)
NM_000138.5(FBN1):c.2887G>A (p.Glu963Lys) rs745709588
NM_000138.5(FBN1):c.2887_2893del (p.Glu963fs) rs1555398832
NM_000138.5(FBN1):c.2893G>A (p.Glu965Lys) rs748905831
NM_000138.5(FBN1):c.2896G>T (p.Glu966Ter) rs1555398830
NM_000138.5(FBN1):c.2901del (p.Glu966_Cys967insTer)
NM_000138.5(FBN1):c.2905C>T (p.Leu969=) rs376776832
NM_000138.5(FBN1):c.2909C>G (p.Pro970Arg)
NM_000138.5(FBN1):c.2913T>C (p.Ile971=) rs2141297416
NM_000138.5(FBN1):c.2923C>T (p.His975Tyr) rs1597565510
NM_000138.5(FBN1):c.2929A>G (p.Met977Val) rs776833421
NM_000138.5(FBN1):c.2930T>C (p.Met977Thr)
NM_000138.5(FBN1):c.2933A>G (p.Asp978Gly)
NM_000138.5(FBN1):c.2934C>T (p.Asp978=) rs138438849
NM_000138.5(FBN1):c.2934dup (p.Ala979fs) rs1555398821
NM_000138.5(FBN1):c.2935G>T (p.Ala979Ser) rs748915171
NM_000138.5(FBN1):c.293del (p.Asn98fs) rs2044650356
NM_000138.5(FBN1):c.2943C>G (p.Cys981Trp)
NM_000138.5(FBN1):c.2945G>C (p.Cys982Ser) rs1057524458
NM_000138.5(FBN1):c.2948C>T (p.Ser983Phe) rs2141297315
NM_000138.5(FBN1):c.2949C>A (p.Ser983=) rs769307676
NM_000138.5(FBN1):c.2949del (p.Val984fs)
NM_000138.5(FBN1):c.2952C>A (p.Val984=) rs374670384
NM_000138.5(FBN1):c.2953G>A (p.Gly985Arg) rs794728199
NM_000138.5(FBN1):c.2953G>T (p.Gly985Trp) rs794728199
NM_000138.5(FBN1):c.2957C>T (p.Ala986Val)
NM_000138.5(FBN1):c.2959G>C (p.Ala987Pro) rs2141297282
NM_000138.5(FBN1):c.2961C>G (p.Ala987=)
NM_000138.5(FBN1):c.2962dup (p.Trp988fs)
NM_000138.5(FBN1):c.2963G>A (p.Trp988Ter) rs2043543553
NM_000138.5(FBN1):c.2964G>A (p.Trp988Ter)
NM_000138.5(FBN1):c.2964_2965delinsTT (p.Trp988_Gly989delinsCysCys) rs2141297274
NM_000138.5(FBN1):c.2965G>A (p.Gly989Ser)
NM_000138.5(FBN1):c.2966dup (p.Thr990fs)
NM_000138.5(FBN1):c.2976A>C (p.Glu992Asp)
NM_000138.5(FBN1):c.2979C>A (p.Cys993Ter)
NM_000138.5(FBN1):c.2980G>T (p.Glu994Ter)
NM_000138.5(FBN1):c.2982G>A (p.Glu994=) rs758745637
NM_000138.5(FBN1):c.2982_2999del (p.Glu994_Asn1000delinsAsp)
NM_000138.5(FBN1):c.2985G>A (p.Glu995=)
NM_000138.5(FBN1):c.2986T>A (p.Cys996Ser) rs140592
NM_000138.5(FBN1):c.2986dup (p.Cys996fs) rs2043543231
NM_000138.5(FBN1):c.298T>C (p.Cys100Arg) rs1597631662
NM_000138.5(FBN1):c.2992A>G (p.Met998Val) rs750727783
NM_000138.5(FBN1):c.2999A>T (p.Asn1000Ile) rs2043543012
NM_000138.5(FBN1):c.2T>G (p.Met1Arg) rs886041536
NM_000138.5(FBN1):c.3006T>C (p.Pro1002=) rs2141297191
NM_000138.5(FBN1):c.300C>A (p.Cys100Ter) rs397515783
NM_000138.5(FBN1):c.3012C>A (p.Tyr1004Ter) rs397515784
NM_000138.5(FBN1):c.3012C>G (p.Tyr1004Ter) rs397515784
NM_000138.5(FBN1):c.3012C>T (p.Tyr1004=) rs397515784
NM_000138.5(FBN1):c.3013G>T (p.Glu1005Ter) rs564713154
NM_000138.5(FBN1):c.3015G>A (p.Glu1005=) rs1430562775
NM_000138.5(FBN1):c.3016G>A (p.Glu1006Lys) rs754040534
NM_000138.5(FBN1):c.3022T>C (p.Cys1008Arg) rs1555398793
NM_000138.5(FBN1):c.3023G>C (p.Cys1008Ser) rs2141297152
NM_000138.5(FBN1):c.3026C>T (p.Pro1009Leu) rs148076256
NM_000138.5(FBN1):c.3027G>A (p.Pro1009=) rs774381427
NM_000138.5(FBN1):c.302C>T (p.Thr101Ile)
NM_000138.5(FBN1):c.3035C>A (p.Pro1012His) rs113990281
NM_000138.5(FBN1):c.3035C>G (p.Pro1012Arg) rs113990281
NM_000138.5(FBN1):c.3037G>A (p.Gly1013Arg) rs140593
NM_000138.5(FBN1):c.3038del (p.Gly1013fs) rs2141297097
NM_000138.5(FBN1):c.3051A>G (p.Lys1017=)
NM_000138.5(FBN1):c.3052G>T (p.Glu1018Ter) rs1597565298
NM_000138.5(FBN1):c.3054A>G (p.Glu1018=) rs1060504141
NM_000138.5(FBN1):c.3055del (p.Ile1019fs)
NM_000138.5(FBN1):c.3059C>A (p.Thr1020Lys)
NM_000138.5(FBN1):c.3061_3082+172del rs1555398753
NM_000138.5(FBN1):c.3064G>A (p.Gly1022Arg)
NM_000138.5(FBN1):c.306C>G (p.Cys102Trp)
NM_000138.5(FBN1):c.3073_3074insA (p.Phe1025fs) rs1566910251
NM_000138.5(FBN1):c.3076T>C (p.Phe1026Leu)
NM_000138.5(FBN1):c.3078C>T (p.Phe1026=) rs553411757
NM_000138.5(FBN1):c.3079A>G (p.Lys1027Glu) rs2141297017
NM_000138.5(FBN1):c.3082+11dup
NM_000138.5(FBN1):c.3082+12C>G
NM_000138.5(FBN1):c.3082+12C>T
NM_000138.5(FBN1):c.3082+1G>A rs886038996
NM_000138.5(FBN1):c.3082+2T>C
NM_000138.5(FBN1):c.3082+8G>A
NM_000138.5(FBN1):c.3082+9T>C rs746303949
NM_000138.5(FBN1):c.3083-18A>G
NM_000138.5(FBN1):c.3083-1G>T rs2141295345
NM_000138.5(FBN1):c.3083-2A>C rs2043529474
NM_000138.5(FBN1):c.3083-9T>C
NM_000138.5(FBN1):c.3083A>C (p.Asp1028Ala)
NM_000138.5(FBN1):c.3083A>G (p.Asp1028Gly) rs1131691317
NM_000138.5(FBN1):c.3083A>T (p.Asp1028Val) rs1131691317
NM_000138.5(FBN1):c.3089_3092del (p.Asn1030fs)
NM_000138.5(FBN1):c.3089del (p.Asn1030fs)
NM_000138.5(FBN1):c.3091G>T (p.Glu1031Ter) rs1555398685
NM_000138.5(FBN1):c.3095G>A (p.Cys1032Tyr) rs137854481
NM_000138.5(FBN1):c.3098del (p.Lys1033fs) rs1555398683
NM_000138.5(FBN1):c.309del (p.Ser104fs) rs2140733940
NM_000138.5(FBN1):c.30C>A (p.Ala10=) rs1373206190
NM_000138.5(FBN1):c.30C>T (p.Ala10=)
NM_000138.5(FBN1):c.3102G>A (p.Met1034Ile)
NM_000138.5(FBN1):c.3107C>T (p.Pro1036Leu)
NM_000138.5(FBN1):c.3109_3112dup (p.Leu1038fs) rs2043529080
NM_000138.5(FBN1):c.3111C>T (p.Ser1037=) rs2141295290
NM_000138.5(FBN1):c.3116G>A (p.Cys1039Tyr) rs2141295277
NM_000138.5(FBN1):c.3123C>A (p.His1041Gln)
NM_000138.5(FBN1):c.3123C>T (p.His1041=) rs576395584
NM_000138.5(FBN1):c.3124G>A (p.Gly1042Ser) rs1555398681
NM_000138.5(FBN1):c.3126C>T (p.Gly1042=) rs1566909928
NM_000138.5(FBN1):c.3128_3148del (p.Lys1043_Gly1049del)
NM_000138.5(FBN1):c.3129G>T (p.Lys1043Asn) rs749552425
NM_000138.5(FBN1):c.3130T>A (p.Cys1044Ser)
NM_000138.5(FBN1):c.3131G>A (p.Cys1044Tyr) rs730880100
NM_000138.5(FBN1):c.3136A>C (p.Asn1046His) rs2141295243
NM_000138.5(FBN1):c.3137A>G (p.Asn1046Ser) rs2141295239
NM_000138.5(FBN1):c.3143T>C (p.Ile1048Thr) rs1555398673
NM_000138.5(FBN1):c.3144T>A (p.Ile1048=) rs112384723
NM_000138.5(FBN1):c.3144del (p.Ile1048fs) rs1555398672
NM_000138.5(FBN1):c.3146G>A (p.Gly1049Asp) rs1555398670
NM_000138.5(FBN1):c.3149G>C (p.Ser1050Thr) rs987202268
NM_000138.5(FBN1):c.3149del (p.Ser1050fs) rs2141295207
NM_000138.5(FBN1):c.3152T>C (p.Phe1051Ser) rs1555398668
NM_000138.5(FBN1):c.3158G>A (p.Cys1053Tyr) rs2043528397
NM_000138.5(FBN1):c.3162G>C (p.Arg1054Ser) rs746021219
NM_000138.5(FBN1):c.3164G>A (p.Cys1055Tyr) rs397515786
NM_000138.5(FBN1):c.3165T>A (p.Cys1055Ter) rs1060501040
NM_000138.5(FBN1):c.3166del (p.Asp1056fs) rs1060501013
NM_000138.5(FBN1):c.3172G>A (p.Gly1058Ser) rs886039208
NM_000138.5(FBN1):c.3173G>A (p.Gly1058Asp) rs794728202
NM_000138.5(FBN1):c.3173G>T (p.Gly1058Val) rs794728202
NM_000138.5(FBN1):c.3181del (p.Asp1062fs)
NM_000138.5(FBN1):c.3193del (p.Glu1065fs) rs193922198
NM_000138.5(FBN1):c.319A>G (p.Ile107Val)
NM_000138.5(FBN1):c.319A>T (p.Ile107Leu) rs2140733930
NM_000138.5(FBN1):c.31C>G (p.Leu11Val)
NM_000138.5(FBN1):c.3201C>T (p.Asn1067=)
NM_000138.5(FBN1):c.3202T>C (p.Cys1068Arg) rs1293095681
NM_000138.5(FBN1):c.3203G>A (p.Cys1068Tyr) rs1555398659
NM_000138.5(FBN1):c.3203G>C (p.Cys1068Ser) rs1555398659
NM_000138.5(FBN1):c.3204C>A (p.Cys1068Ter) rs886038248
NM_000138.5(FBN1):c.3205A>G (p.Thr1069Ala) rs761632843
NM_000138.5(FBN1):c.3208+10T>C rs1597564173
NM_000138.5(FBN1):c.3208+13G>A rs2043527577
NM_000138.5(FBN1):c.3208+14C>G
NM_000138.5(FBN1):c.3208+5G>C rs1555398657
NM_000138.5(FBN1):c.3208+7T>A
NM_000138.5(FBN1):c.3209-11T>G
NM_000138.5(FBN1):c.3209-13T>C
NM_000138.5(FBN1):c.3209-19A>G
NM_000138.5(FBN1):c.3209-1G>C rs886038956
NM_000138.5(FBN1):c.3209-2A>C rs2043526284
NM_000138.5(FBN1):c.3209-3del rs2141294880
NM_000138.5(FBN1):c.3209-6G>C rs942309418
NM_000138.5(FBN1):c.3209-7del rs2043526375
NM_000138.5(FBN1):c.3210C>T (p.Asp1070=) rs754970748
NM_000138.5(FBN1):c.3211del (p.Ile1071fs) rs1597564038
NM_000138.5(FBN1):c.3213T>A (p.Ile1071=)
NM_000138.5(FBN1):c.3217G>A (p.Glu1073Lys) rs137854478
NM_000138.5(FBN1):c.3217G>T (p.Glu1073Ter) rs137854478
NM_000138.5(FBN1):c.3218A>G (p.Glu1073Gly)
NM_000138.5(FBN1):c.3224G>A (p.Arg1075His) rs369745372
NM_000138.5(FBN1):c.3224G>C (p.Arg1075Pro) rs369745372
NM_000138.5(FBN1):c.3225_3228dup (p.Ser1077fs) rs2141294801
NM_000138.5(FBN1):c.3227T>C (p.Ile1076Thr)
NM_000138.5(FBN1):c.3227dup (p.Ser1077fs) rs2141294808
NM_000138.5(FBN1):c.3238C>T (p.Leu1080Phe)
NM_000138.5(FBN1):c.3239T>C (p.Leu1080Pro) rs2043525655
NM_000138.5(FBN1):c.3239T>G (p.Leu1080Arg) rs2043525655
NM_000138.5(FBN1):c.3250G>C (p.Gly1084Arg) rs112553035
NM_000138.5(FBN1):c.3253C>T (p.Gln1085Ter) rs1555398640
NM_000138.5(FBN1):c.3254A>G (p.Gln1085Arg) rs1031572615
NM_000138.5(FBN1):c.3256T>G (p.Cys1086Gly) rs1555398637
NM_000138.5(FBN1):c.3259G>A (p.Val1087Met)
NM_000138.5(FBN1):c.3263A>G (p.Asn1088Ser) rs1555398635
NM_000138.5(FBN1):c.3264C>A (p.Asn1088Lys) rs2043525387
NM_000138.5(FBN1):c.3265A>G (p.Thr1089Ala)
NM_000138.5(FBN1):c.3269del (p.Pro1090fs) rs35656954
NM_000138.5(FBN1):c.3271G>T (p.Gly1091Trp) rs2141294717
NM_000138.5(FBN1):c.3272G>A (p.Gly1091Glu) rs1566909798
NM_000138.5(FBN1):c.3284G>A (p.Cys1095Tyr) rs1597563934
NM_000138.5(FBN1):c.3287A>G (p.Lys1096Arg)
NM_000138.5(FBN1):c.3290G>A (p.Cys1097Tyr) rs1555398627
NM_000138.5(FBN1):c.3297A>G (p.Glu1099=) rs1555398626
NM_000138.5(FBN1):c.3299G>A (p.Gly1100Asp)
NM_000138.5(FBN1):c.32T>A (p.Leu11Gln) rs1555407429
NM_000138.5(FBN1):c.32T>G (p.Leu11Arg) rs1555407429
NM_000138.5(FBN1):c.3302A>G (p.Tyr1101Cys) rs1555398625
NM_000138.5(FBN1):c.3315C>G (p.Phe1105Leu)
NM_000138.5(FBN1):c.3318del (p.Met1106fs) rs2141294624
NM_000138.5(FBN1):c.3319A>G (p.Met1107Val)
NM_000138.5(FBN1):c.331T>C (p.Cys111Arg)
NM_000138.5(FBN1):c.3320_3321del (p.Met1107fs) rs2141294618
NM_000138.5(FBN1):c.3321G>A (p.Met1107Ile)
NM_000138.5(FBN1):c.3331T>G (p.Cys1111Gly) rs2141294587
NM_000138.5(FBN1):c.3332G>C (p.Cys1111Ser)
NM_000138.5(FBN1):c.3334A>T (p.Met1112Leu)
NM_000138.5(FBN1):c.3337+13del rs563620440
NM_000138.5(FBN1):c.3337+15A>T
NM_000138.5(FBN1):c.3337+1G>A rs397515789
NM_000138.5(FBN1):c.3337+1G>T rs397515789
NM_000138.5(FBN1):c.3337+1del rs1566909762
NM_000138.5(FBN1):c.3337+2T>C rs2141294575
NM_000138.5(FBN1):c.3338-16C>T
NM_000138.5(FBN1):c.3338-18del
NM_000138.5(FBN1):c.3338-1G>C rs2141293811
NM_000138.5(FBN1):c.3338A>G (p.Asp1113Gly) rs140597
NM_000138.5(FBN1):c.3343G>T (p.Asp1115Tyr)
NM_000138.5(FBN1):c.3344A>G (p.Asp1115Gly) rs794728203
NM_000138.5(FBN1):c.3347A>G (p.Glu1116Gly) rs1566909547
NM_000138.5(FBN1):c.3349T>C (p.Cys1117Arg) rs2141293770
NM_000138.5(FBN1):c.3349del (p.Cys1117fs) rs1597563316
NM_000138.5(FBN1):c.3350G>A (p.Cys1117Tyr) rs137854470
NM_000138.5(FBN1):c.3362del (p.Pro1121fs)
NM_000138.5(FBN1):c.3366C>T (p.Leu1122=) rs2141293747
NM_000138.5(FBN1):c.336C>T (p.Gly112=) rs1555405526
NM_000138.5(FBN1):c.336dup (p.Ser113fs) rs1555405528
NM_000138.5(FBN1):c.3371G>C (p.Cys1124Ser) rs2141293726
NM_000138.5(FBN1):c.3373C>T (p.Arg1125Ter) rs727505006
NM_000138.5(FBN1):c.3374_3379delinsAAAGT (p.Arg1125fs) rs1597563274
NM_000138.5(FBN1):c.3379G>A (p.Gly1127Ser) rs137854468
NM_000138.5(FBN1):c.3380G>A (p.Gly1127Asp) rs1064794882
NM_000138.5(FBN1):c.3383_3386dup (p.His1130fs) rs2141293686
NM_000138.5(FBN1):c.3385T>C (p.Cys1129Arg) rs2043517941
NM_000138.5(FBN1):c.3386G>A (p.Cys1129Tyr) rs137854482
NM_000138.5(FBN1):c.338C>G (p.Ser113Cys) rs869025403
NM_000138.5(FBN1):c.3390T>C (p.His1130=)
NM_000138.5(FBN1):c.3393C>A (p.Asn1131Lys) rs775565475
NM_000138.5(FBN1):c.3394A>G (p.Thr1132Ala)
NM_000138.5(FBN1):c.339C>T (p.Ser113=)
NM_000138.5(FBN1):c.33G>C (p.Leu11=)
NM_000138.5(FBN1):c.3402A>G (p.Gly1134=)
NM_000138.5(FBN1):c.3407_3431dup (p.His1144delinsGlnProLeuTer)
NM_000138.5(FBN1):c.3407dup (p.Tyr1136Ter) rs2141293639
NM_000138.5(FBN1):c.3408C>A (p.Tyr1136Ter) rs1555398564
NM_000138.5(FBN1):c.3411C>T (p.Arg1137=) rs878853681
NM_000138.5(FBN1):c.3413G>C (p.Cys1138Ser) rs397515791
NM_000138.5(FBN1):c.3419G>A (p.Cys1140Tyr) rs1060501075
NM_000138.5(FBN1):c.3425C>G (p.Pro1142Arg) rs2043517357
NM_000138.5(FBN1):c.3428G>A (p.Gly1143Asp) rs1163486953
NM_000138.5(FBN1):c.3431A>G (p.His1144Arg)
NM_000138.5(FBN1):c.3432dup (p.Gln1145fs) rs1566909483
NM_000138.5(FBN1):c.3447C>T (p.Asn1149=)
NM_000138.5(FBN1):c.3458G>A (p.Cys1153Tyr) rs140599
NM_000138.5(FBN1):c.345del (p.Ile116fs)
NM_000138.5(FBN1):c.3460A>T (p.Ile1154Phe) rs1043235195
NM_000138.5(FBN1):c.3462C>A (p.Ile1154=)
NM_000138.5(FBN1):c.3463+15T>A rs1597563076
NM_000138.5(FBN1):c.3463+1G>A rs397515792
NM_000138.5(FBN1):c.3464-16_3464-14del rs775944757
NM_000138.5(FBN1):c.3464-1G>A rs2141293336
NM_000138.5(FBN1):c.3464-1del rs2141293337
NM_000138.5(FBN1):c.3464-6C>A
NM_000138.5(FBN1):c.3464A>G (p.Asp1155Gly) rs2141293332
NM_000138.5(FBN1):c.3464A>T (p.Asp1155Val)
NM_000138.5(FBN1):c.3466_3467del (p.Ile1156fs)
NM_000138.5(FBN1):c.347-19CTT[2] rs756583965
NM_000138.5(FBN1):c.347-5del rs561135562
NM_000138.5(FBN1):c.3471T>C (p.Asn1157=)
NM_000138.5(FBN1):c.3473A>G (p.Glu1158Gly) rs1597562926
NM_000138.5(FBN1):c.3475T>C (p.Cys1159Arg) rs794728205
NM_000138.5(FBN1):c.3476G>A (p.Cys1159Tyr) rs1555398524
NM_000138.5(FBN1):c.3487G>A (p.Ala1163Thr)
NM_000138.5(FBN1):c.3487_3488dup (p.Leu1165fs) rs2043515102
NM_000138.5(FBN1):c.3497G>A (p.Cys1166Tyr) rs2043515038
NM_000138.5(FBN1):c.3498C>A (p.Cys1166Ter)
NM_000138.5(FBN1):c.34G>T (p.Gly12Ter)
NM_000138.5(FBN1):c.3503A>T (p.Asn1168Ile)
NM_000138.5(FBN1):c.3505G>C (p.Gly1169Arg)
NM_000138.5(FBN1):c.3506G>A (p.Gly1169Asp) rs794728330
NM_000138.5(FBN1):c.3508C>T (p.Arg1170Cys) rs1366894709
NM_000138.5(FBN1):c.3511T>C (p.Cys1171Arg) rs2141293252
NM_000138.5(FBN1):c.3512G>A (p.Cys1171Tyr) rs1555398521
NM_000138.5(FBN1):c.3516G>C (p.Val1172=) rs2141293239
NM_000138.5(FBN1):c.3518A>C (p.Asn1173Thr) rs1555398520
NM_000138.5(FBN1):c.3518A>T (p.Asn1173Ile) rs1555398520
NM_000138.5(FBN1):c.3518_3538del (p.Asn1173_Cys1180delinsSer) rs1555398514
NM_000138.5(FBN1):c.3521T>C (p.Leu1174Pro) rs1555398517
NM_000138.5(FBN1):c.3528G>A (p.Gly1176=) rs902201289
NM_000138.5(FBN1):c.3529A>T (p.Lys1177Ter)
NM_000138.5(FBN1):c.3533A>G (p.Tyr1178Cys) rs1555398515
NM_000138.5(FBN1):c.3537G>A (p.Gln1179=)
NM_000138.5(FBN1):c.3538T>C (p.Cys1180Arg) rs2141293199
NM_000138.5(FBN1):c.3557A>G (p.Tyr1186Cys) rs1555398511
NM_000138.5(FBN1):c.3557del (p.Tyr1186fs) rs2043514354
NM_000138.5(FBN1):c.3558C>G (p.Tyr1186Ter) rs1555398510
NM_000138.5(FBN1):c.355T>C (p.Cys119Arg) rs2044551443
NM_000138.5(FBN1):c.3568C>A (p.Pro1190Thr)
NM_000138.5(FBN1):c.3569_3570delinsAA (p.Pro1190Gln) rs2043514115
NM_000138.5(FBN1):c.356G>A (p.Cys119Tyr)
NM_000138.5(FBN1):c.3572A>G (p.Asp1191Gly)
NM_000138.5(FBN1):c.3579A>G (p.Leu1193=)
NM_000138.5(FBN1):c.3582T>C (p.Phe1194=) rs2141293096
NM_000138.5(FBN1):c.3583T>G (p.Cys1195Gly) rs2141293091
NM_000138.5(FBN1):c.3583del (p.Cys1195fs) rs2141293095
NM_000138.5(FBN1):c.3586G>A (p.Val1196Ile) rs1352765609
NM_000138.5(FBN1):c.3589+1del
NM_000138.5(FBN1):c.3589+3A>G rs2043513649
NM_000138.5(FBN1):c.3589G>A (p.Asp1197Asn) rs397515793
NM_000138.5(FBN1):c.3590-10T>C rs1384307516
NM_000138.5(FBN1):c.3590-11A>G rs777262423
NM_000138.5(FBN1):c.3590-17_3590-15del
NM_000138.5(FBN1):c.3590-19T>C
NM_000138.5(FBN1):c.3590-2A>G rs2043498977
NM_000138.5(FBN1):c.3590-9T>A
NM_000138.5(FBN1):c.3590A>T (p.Asp1197Val) rs112025387
NM_000138.5(FBN1):c.3595_3608dup (p.Ile1203fs) rs1566908947
NM_000138.5(FBN1):c.3596A>G (p.Asp1199Gly) rs794728206
NM_000138.5(FBN1):c.3598G>A (p.Glu1200Lys)
NM_000138.5(FBN1):c.359A>G (p.Asn120Ser) rs753900024
NM_000138.5(FBN1):c.359A>T (p.Asn120Ile) rs753900024
NM_000138.5(FBN1):c.3605G>A (p.Ser1202Asn) rs758542279
NM_000138.5(FBN1):c.3605_3606delinsTT (p.Ser1202Ile) rs2043498514
NM_000138.5(FBN1):c.3613_3616del (p.Asn1205fs) rs2141291389
NM_000138.5(FBN1):c.3616G>A (p.Gly1206Ser)
NM_000138.5(FBN1):c.3616G>C (p.Gly1206Arg) rs1555398411
NM_000138.5(FBN1):c.3616G>T (p.Gly1206Cys) rs1555398411
NM_000138.5(FBN1):c.3617G>T (p.Gly1206Val)
NM_000138.5(FBN1):c.3623G>T (p.Cys1208Phe) rs1555398406
NM_000138.5(FBN1):c.3624T>A (p.Cys1208Ter) rs765842423
NM_000138.5(FBN1):c.3624T>G (p.Cys1208Trp)
NM_000138.5(FBN1):c.3625_3627dup (p.Glu1209_Thr1210insGlu)
NM_000138.5(FBN1):c.3626A>T (p.Glu1209Val) rs1597561500
NM_000138.5(FBN1):c.362_363dup (p.Arg122fs) rs2044551389
NM_000138.5(FBN1):c.3632T>C (p.Phe1211Ser)
NM_000138.5(FBN1):c.3634T>C (p.Cys1212Arg) rs2043497933
NM_000138.5(FBN1):c.3643T>C (p.Ser1215Pro)
NM_000138.5(FBN1):c.3644C>T (p.Ser1215Phe)
NM_000138.5(FBN1):c.3644_3645del (p.Asn1214_Ser1215insTer)
NM_000138.5(FBN1):c.364C>T (p.Arg122Cys) rs137854467
NM_000138.5(FBN1):c.3650G>A (p.Gly1217Asp) rs1555398397
NM_000138.5(FBN1):c.3656A>C (p.Tyr1219Ser)
NM_000138.5(FBN1):c.3656dup (p.Tyr1219Ter) rs1555398395
NM_000138.5(FBN1):c.3661T>A (p.Cys1221Ser) rs2141291310
NM_000138.5(FBN1):c.3661T>C (p.Cys1221Arg) rs2141291310
NM_000138.5(FBN1):c.3661dup (p.Cys1221fs)
NM_000138.5(FBN1):c.3671A>G (p.Gln1224Arg) rs2141291295
NM_000138.5(FBN1):c.3677G>T (p.Gly1226Val) rs1555398387
NM_000138.5(FBN1):c.367del (p.Cys123fs) rs2140718246
NM_000138.5(FBN1):c.3681T>G (p.Phe1227Leu) rs2043497341
NM_000138.5(FBN1):c.368G>A (p.Cys123Tyr) rs397515794
NM_000138.5(FBN1):c.368G>C (p.Cys123Ser) rs397515794
NM_000138.5(FBN1):c.3693_3697del (p.Asp1232fs)
NM_000138.5(FBN1):c.3694G>A (p.Asp1232Asn)
NM_000138.5(FBN1):c.3697C>T (p.Gln1233Ter)
NM_000138.5(FBN1):c.3702A>T (p.Arg1234Ser)
NM_000138.5(FBN1):c.3704C>G (p.Ser1235Ter) rs2141291261
NM_000138.5(FBN1):c.3704del (p.Ser1235fs)
NM_000138.5(FBN1):c.3706T>G (p.Cys1236Gly) rs1555398380
NM_000138.5(FBN1):c.3707G>A (p.Cys1236Tyr) rs1555398377
NM_000138.5(FBN1):c.3712+16C>T
NM_000138.5(FBN1):c.3712+1G>T rs794728209
NM_000138.5(FBN1):c.3712+9G>A
NM_000138.5(FBN1):c.3712+9G>T rs769251450
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn) rs794728208
NM_000138.5(FBN1):c.3712G>C (p.Asp1238His) rs794728208
NM_000138.5(FBN1):c.3713-17G>T
NM_000138.5(FBN1):c.3713-1G>T rs2141289776
NM_000138.5(FBN1):c.3713-2A>C
NM_000138.5(FBN1):c.3713-4G>A rs2141289788
NM_000138.5(FBN1):c.3721G>A (p.Glu1241Lys)
NM_000138.5(FBN1):c.3721_3732del (p.Glu1241_Asp1244del)
NM_000138.5(FBN1):c.3722A>G (p.Glu1241Gly) rs2043485666
NM_000138.5(FBN1):c.3724T>C (p.Cys1242Arg) rs2141289747
NM_000138.5(FBN1):c.3725G>A (p.Cys1242Tyr) rs137854471
NM_000138.5(FBN1):c.3730G>A (p.Asp1244Asn)
NM_000138.5(FBN1):c.3745T>G (p.Cys1249Gly)
NM_000138.5(FBN1):c.3746G>A (p.Cys1249Tyr)
NM_000138.5(FBN1):c.3758A>C (p.Gln1253Pro)
NM_000138.5(FBN1):c.3759G>C (p.Gln1253His) rs2141289701
NM_000138.5(FBN1):c.3766A>C (p.Asn1256His) rs772890884
NM_000138.5(FBN1):c.3766A>G (p.Asn1256Asp) rs772890884
NM_000138.5(FBN1):c.3772C>T (p.Pro1258Ser) rs397515795
NM_000138.5(FBN1):c.3778G>T (p.Glu1260Ter) rs1555398283
NM_000138.5(FBN1):c.3780G>A (p.Glu1260=)
NM_000138.5(FBN1):c.3786G>A (p.Arg1262=) rs1555398280
NM_000138.5(FBN1):c.3788G>T (p.Cys1263Phe)
NM_000138.5(FBN1):c.378A>C (p.Gly126=)
NM_000138.5(FBN1):c.3793_3799del (p.Cys1265fs) rs1555398276
NM_000138.5(FBN1):c.3794G>A (p.Cys1265Tyr)
NM_000138.5(FBN1):c.3794G>C (p.Cys1265Ser) rs1555398279
NM_000138.5(FBN1):c.3794G>T (p.Cys1265Phe) rs1555398279
NM_000138.5(FBN1):c.379G>T (p.Gly127Cys)
NM_000138.5(FBN1):c.3801T>C (p.Asp1267=) rs769208631
NM_000138.5(FBN1):c.3808A>T (p.Met1270Leu)
NM_000138.5(FBN1):c.380G>T (p.Gly127Val)
NM_000138.5(FBN1):c.3816del (p.Glu1273fs) rs2141289577
NM_000138.5(FBN1):c.381T>C (p.Gly127=)
NM_000138.5(FBN1):c.3823A>G (p.Met1275Val) rs747414686
NM_000138.5(FBN1):c.3823_3830del (p.Met1275fs)
NM_000138.5(FBN1):c.3833G>A (p.Cys1278Tyr)
NM_000138.5(FBN1):c.3838+16A>G
NM_000138.5(FBN1):c.3838+18A>T
NM_000138.5(FBN1):c.3838G>A (p.Asp1280Asn) rs794728210
NM_000138.5(FBN1):c.3839-15A>C
NM_000138.5(FBN1):c.3839-19T>C
NM_000138.5(FBN1):c.3839-20A>G rs891189448
NM_000138.5(FBN1):c.3839_3846del (p.Asp1280fs) rs113603747
NM_000138.5(FBN1):c.3843C>A (p.Val1281=)
NM_000138.5(FBN1):c.3848A>C (p.Glu1283Ala) rs397515796
NM_000138.5(FBN1):c.3848A>T (p.Glu1283Val) rs397515796
NM_000138.5(FBN1):c.3849G>A (p.Glu1283=)
NM_000138.5(FBN1):c.3850T>A (p.Cys1284Ser) rs2043467154
NM_000138.5(FBN1):c.3850T>C (p.Cys1284Arg) rs2043467154
NM_000138.5(FBN1):c.3850dup (p.Cys1284fs)
NM_000138.5(FBN1):c.3851G>A (p.Cys1284Tyr) rs1555398173
NM_000138.5(FBN1):c.3853G>A (p.Asp1285Asn) rs1555398171
NM_000138.5(FBN1):c.386G>A (p.Cys129Tyr) rs1566935517
NM_000138.5(FBN1):c.386G>T (p.Cys129Phe) rs1566935517
NM_000138.5(FBN1):c.3870C>T (p.Ile1290=) rs2043466994
NM_000138.5(FBN1):c.3874del (p.Cys1291_Leu1292insTer) rs1597559048
NM_000138.5(FBN1):c.3875T>C (p.Leu1292Pro) rs2141287453
NM_000138.5(FBN1):c.3878_3891del (p.Ser1293fs)
NM_000138.5(FBN1):c.3881G>T (p.Gly1294Val) rs1060501064
NM_000138.5(FBN1):c.3886T>C (p.Cys1296Arg) rs397515797
NM_000138.5(FBN1):c.3893A>C (p.Asn1298Thr)
NM_000138.5(FBN1):c.3893del (p.Asn1298fs) rs869025425
NM_000138.5(FBN1):c.3895dup (p.Thr1299fs) rs1555398160
NM_000138.5(FBN1):c.3897G>C (p.Thr1299=) rs771283158
NM_000138.5(FBN1):c.38T>G (p.Phe13Cys) rs773614956
NM_000138.5(FBN1):c.3900_3903del (p.Lys1300fs) rs2043466554
NM_000138.5(FBN1):c.3901_3904dup (p.Ser1302fs) rs2141287379
NM_000138.5(FBN1):c.3902G>T (p.Gly1301Val) rs1566908083
NM_000138.5(FBN1):c.3902del (p.Gly1301fs) rs2141287396
NM_000138.5(FBN1):c.3903C>T (p.Gly1301=) rs1018707026
NM_000138.5(FBN1):c.3904T>C (p.Ser1302Pro) rs2141287376
NM_000138.5(FBN1):c.3904_3915del (p.Ser1302_Cys1305del)
NM_000138.5(FBN1):c.3906dup (p.Phe1303fs) rs2141287368
NM_000138.5(FBN1):c.3914G>A (p.Cys1305Tyr)
NM_000138.5(FBN1):c.3920G>A (p.Cys1307Tyr)
NM_000138.5(FBN1):c.3921_3922del (p.Cys1307_Asp1308delinsTer)
NM_000138.5(FBN1):c.3925dup (p.Met1309fs)
NM_000138.5(FBN1):c.3928G>A (p.Gly1310Ser)
NM_000138.5(FBN1):c.3928G>C (p.Gly1310Arg)
NM_000138.5(FBN1):c.3928G>T (p.Gly1310Cys) rs2043466325
NM_000138.5(FBN1):c.3929dup (p.Tyr1311fs) rs2141287336
NM_000138.5(FBN1):c.3936C>A (p.Ser1312=) rs779913610
NM_000138.5(FBN1):c.3938G>C (p.Gly1313Ala)
NM_000138.5(FBN1):c.3939C>G (p.Gly1313=) rs1597558962
NM_000138.5(FBN1):c.3944A>G (p.Lys1315Arg)
NM_000138.5(FBN1):c.3945dup (p.Gly1316fs) rs1555398144
NM_000138.5(FBN1):c.394G>A (p.Asp132Asn)
NM_000138.5(FBN1):c.3952dup (p.Thr1318fs) rs1566908063
NM_000138.5(FBN1):c.3956G>C (p.Gly1319Ala)
NM_000138.5(FBN1):c.3958T>C (p.Cys1320Arg) rs1597558920
NM_000138.5(FBN1):c.3959G>C (p.Cys1320Ser) rs113393517
NM_000138.5(FBN1):c.3962dup (p.Asp1322fs) rs1555398137
NM_000138.5(FBN1):c.3963A>G (p.Thr1321=) rs140648
NM_000138.5(FBN1):c.3963A>T (p.Thr1321=)
NM_000138.5(FBN1):c.3964+12C>G
NM_000138.5(FBN1):c.3964+13A>C
NM_000138.5(FBN1):c.3964+2T>C
NM_000138.5(FBN1):c.3964+5G>T rs2043465883
NM_000138.5(FBN1):c.3964+9G>T rs1412748899
NM_000138.5(FBN1):c.3965-10A>G
NM_000138.5(FBN1):c.3965-15dup rs2043405703
NM_000138.5(FBN1):c.3966C>T (p.Asp1322=) rs2141280317
NM_000138.5(FBN1):c.3969C>A (p.Ile1323=) rs536546914
NM_000138.5(FBN1):c.3971A>C (p.Asn1324Thr)
NM_000138.5(FBN1):c.3973G>T (p.Glu1325Ter) rs2141280296
NM_000138.5(FBN1):c.3973dup (p.Glu1325fs) rs1555397743
NM_000138.5(FBN1):c.3974A>C (p.Glu1325Ala) rs794728331
NM_000138.5(FBN1):c.3975A>C (p.Glu1325Asp) rs1555397741
NM_000138.5(FBN1):c.3975A>G (p.Glu1325=) rs1555397741
NM_000138.5(FBN1):c.3976T>C (p.Cys1326Arg)
NM_000138.5(FBN1):c.3977G>A (p.Cys1326Tyr) rs1555397738
NM_000138.5(FBN1):c.3977del (p.Cys1326fs) rs2141280278
NM_000138.5(FBN1):c.3988G>A (p.Ala1330Thr)
NM_000138.5(FBN1):c.3988G>C (p.Ala1330Pro)
NM_000138.5(FBN1):c.3989C>T (p.Ala1330Val)
NM_000138.5(FBN1):c.3998G>A (p.Cys1333Tyr) rs2043405073
NM_000138.5(FBN1):c.3999_4000del (p.Cys1333fs)
NM_000138.5(FBN1):c.3G>A (p.Met1Ile) rs886039072
NM_000138.5(FBN1):c.4002_4003del (p.Lys1335fs) rs2141280251
NM_000138.5(FBN1):c.4003_4004insCACAACTCTGGCA (p.Lys1335fs) rs1555397733
NM_000138.5(FBN1):c.400T>C (p.Cys134Arg) rs1555405044
NM_000138.5(FBN1):c.4011del (p.Val1338fs) rs2043404959
NM_000138.5(FBN1):c.4011dup (p.Val1338fs)
NM_000138.5(FBN1):c.4016G>A (p.Cys1339Tyr) rs397515798
NM_000138.5(FBN1):c.401G>A (p.Cys134Tyr) rs1555405043
NM_000138.5(FBN1):c.4020del (p.Asn1341fs) rs2141280222
NM_000138.5(FBN1):c.4022A>G (p.Asn1341Ser) rs140638
NM_000138.5(FBN1):c.4023T>C (p.Asn1341=) rs2043404831
NM_000138.5(FBN1):c.4024dup (p.Thr1342fs)
NM_000138.5(FBN1):c.4029del (p.Gly1344fs) rs2043404761
NM_000138.5(FBN1):c.4031G>A (p.Gly1344Glu) rs1555397725
NM_000138.5(FBN1):c.4033A>C (p.Ser1345Arg)
NM_000138.5(FBN1):c.4034G>T (p.Ser1345Ile) rs767079851
NM_000138.5(FBN1):c.4035C>T (p.Ser1345=) rs1400471354
NM_000138.5(FBN1):c.4042T>C (p.Cys1348Arg) rs2141280160
NM_000138.5(FBN1):c.4043G>A (p.Cys1348Tyr) rs1555397720
NM_000138.5(FBN1):c.4043G>T (p.Cys1348Phe) rs1555397720
NM_000138.5(FBN1):c.4044T>G (p.Cys1348Trp) rs1555397719
NM_000138.5(FBN1):c.4048T>C (p.Cys1350Arg) rs397515799
NM_000138.5(FBN1):c.4049G>A (p.Cys1350Tyr) rs1555397718
NM_000138.5(FBN1):c.4056del (p.Trp1354fs) rs1555397713
NM_000138.5(FBN1):c.4057G>C (p.Gly1353Arg) rs187177496
NM_000138.5(FBN1):c.4057G>T (p.Gly1353Trp) rs187177496
NM_000138.5(FBN1):c.4061G>A (p.Trp1354Ter) rs1060501039
NM_000138.5(FBN1):c.4065T>A (p.Ile1355=)
NM_000138.5(FBN1):c.4066G>A (p.Gly1356Arg) rs867460746
NM_000138.5(FBN1):c.4068A>C (p.Gly1356=) rs1555397706
NM_000138.5(FBN1):c.406T>G (p.Cys136Gly) rs1555405041
NM_000138.5(FBN1):c.406dup (p.Cys136fs) rs1555405042
NM_000138.5(FBN1):c.4079del (p.Lys1360fs) rs2141280061
NM_000138.5(FBN1):c.407G>A (p.Cys136Tyr)
NM_000138.5(FBN1):c.407G>T (p.Cys136Phe)
NM_000138.5(FBN1):c.4081T>C (p.Cys1361Arg) rs1566906506
NM_000138.5(FBN1):c.4082G>A (p.Cys1361Tyr) rs1555397704
NM_000138.5(FBN1):c.4087G>T (p.Asp1363Tyr)
NM_000138.5(FBN1):c.4088-13C>T
NM_000138.5(FBN1):c.4088-14C>A
NM_000138.5(FBN1):c.4088-15A>C
NM_000138.5(FBN1):c.4088-17T>C rs1397067049
NM_000138.5(FBN1):c.4088-2A>G
NM_000138.5(FBN1):c.4088-8T>C
NM_000138.5(FBN1):c.4088-8del rs1325437178
NM_000138.5(FBN1):c.4088A>T (p.Asp1363Val) rs2043402890
NM_000138.5(FBN1):c.408C>A (p.Cys136Ter) rs1555405039
NM_000138.5(FBN1):c.4094A>G (p.Asp1365Gly) rs794728217
NM_000138.5(FBN1):c.4096G>A (p.Glu1366Lys) rs763449629
NM_000138.5(FBN1):c.4096G>C (p.Glu1366Gln) rs763449629
NM_000138.5(FBN1):c.4098dup (p.Cys1367fs)
NM_000138.5(FBN1):c.4099T>A (p.Cys1367Ser) rs1555397670
NM_000138.5(FBN1):c.409C>T (p.Gln137Ter) rs1060501047
NM_000138.5(FBN1):c.40dup (p.Thr14fs)
NM_000138.5(FBN1):c.4101T>A (p.Cys1367Ter)
NM_000138.5(FBN1):c.4107T>C (p.Asn1369=) rs765588220
NM_000138.5(FBN1):c.4121G>A (p.Cys1374Tyr) rs2141279835
NM_000138.5(FBN1):c.4127A>G (p.Gln1376Arg) rs1597553861
NM_000138.5(FBN1):c.4130A>T (p.His1377Leu) rs1238143005
NM_000138.5(FBN1):c.4134A>T (p.Ala1378=)
NM_000138.5(FBN1):c.4139G>A (p.Cys1380Tyr)
NM_000138.5(FBN1):c.4143G>C (p.Lys1381Asn) rs2043402274
NM_000138.5(FBN1):c.4144A>T (p.Asn1382Tyr)
NM_000138.5(FBN1):c.4145dup (p.Asn1382fs) rs1555397663
NM_000138.5(FBN1):c.4146T>C (p.Asn1382=)
NM_000138.5(FBN1):c.4149C>G (p.Thr1383=)
NM_000138.5(FBN1):c.4151T>C (p.Met1384Thr) rs1555397658
NM_000138.5(FBN1):c.4152G>A (p.Met1384Ile) rs1488326228
NM_000138.5(FBN1):c.4154del (p.Gly1385fs) rs2043402092
NM_000138.5(FBN1):c.4155A>T (p.Gly1385=) rs2141279769
NM_000138.5(FBN1):c.4159T>G (p.Tyr1387Asp) rs1555397656
NM_000138.5(FBN1):c.415G>T (p.Gly139Ter)
NM_000138.5(FBN1):c.4161C>A (p.Tyr1387Ter)
NM_000138.5(FBN1):c.4162C>A (p.Arg1388Ser) rs770860280
NM_000138.5(FBN1):c.4163G>C (p.Arg1388Pro) rs749196340
NM_000138.5(FBN1):c.4164C>A (p.Arg1388=)
NM_000138.5(FBN1):c.4166G>A (p.Cys1389Tyr) rs1060501026
NM_000138.5(FBN1):c.4166G>C (p.Cys1389Ser) rs1060501026
NM_000138.5(FBN1):c.4172G>A (p.Cys1391Tyr) rs1352478541
NM_000138.5(FBN1):c.4174A>G (p.Lys1392Glu) rs756683929
NM_000138.5(FBN1):c.4177_4199del (p.Glu1393fs) rs1566906389
NM_000138.5(FBN1):c.4177del (p.Glu1393fs) rs2043401705
NM_000138.5(FBN1):c.4179A>G (p.Glu1393=) rs1597553731
NM_000138.5(FBN1):c.4179_4182del (p.Glu1393fs)
NM_000138.5(FBN1):c.4180G>T (p.Gly1394Ter) rs2141279711
NM_000138.5(FBN1):c.4185C>T (p.Tyr1395=) rs2043401602
NM_000138.5(FBN1):c.4187C>T (p.Thr1396Ile) rs2043401571
NM_000138.5(FBN1):c.4188del (p.Gly1397fs) rs1555397652
NM_000138.5(FBN1):c.4190G>T (p.Gly1397Val) rs747867726
NM_000138.5(FBN1):c.4191T>C (p.Gly1397=)
NM_000138.5(FBN1):c.4193A>G (p.Asp1398Gly) rs781045902
NM_000138.5(FBN1):c.4197C>T (p.Gly1399=)
NM_000138.5(FBN1):c.4205G>A (p.Cys1402Tyr) rs1555397646
NM_000138.5(FBN1):c.4208C>T (p.Thr1403Ile)
NM_000138.5(FBN1):c.4210+11G>A rs148057138
NM_000138.5(FBN1):c.4210+14G>T
NM_000138.5(FBN1):c.4210+15G>A
NM_000138.5(FBN1):c.4210+15G>C
NM_000138.5(FBN1):c.4210+16A>C
NM_000138.5(FBN1):c.4210+16A>G
NM_000138.5(FBN1):c.4210+1G>A rs730880106
NM_000138.5(FBN1):c.4210+3A>G rs1457293645
NM_000138.5(FBN1):c.4210+3A>T
NM_000138.5(FBN1):c.4210G>A (p.Asp1404Asn) rs794728220
NM_000138.5(FBN1):c.4210G>C (p.Asp1404His) rs794728220
NM_000138.5(FBN1):c.4211-12_4211-9del rs1597552613
NM_000138.5(FBN1):c.4211-2A>G
NM_000138.5(FBN1):c.4211-5T>C
NM_000138.5(FBN1):c.4211-8G>C rs764384543
NM_000138.5(FBN1):c.4217A>G (p.Asp1406Gly) rs2043386794
NM_000138.5(FBN1):c.4222T>A (p.Cys1408Ser)
NM_000138.5(FBN1):c.4222T>C (p.Cys1408Arg) rs397515802
NM_000138.5(FBN1):c.4226_4227del (p.Cys1408_Ser1409insTer) rs1566905976
NM_000138.5(FBN1):c.4230G>A (p.Glu1410=)
NM_000138.5(FBN1):c.4244G>A (p.Cys1415Tyr) rs1555397556
NM_000138.5(FBN1):c.424G>A (p.Gly142Arg)
NM_000138.5(FBN1):c.4252_4253insCATT (p.Gly1418fs)
NM_000138.5(FBN1):c.4254C>G (p.Gly1418=)
NM_000138.5(FBN1):c.4258T>C (p.Cys1420Arg) rs2043386188
NM_000138.5(FBN1):c.4259G>A (p.Cys1420Tyr) rs397515804
NM_000138.5(FBN1):c.4259G>C (p.Cys1420Ser)
NM_000138.5(FBN1):c.4259G>T (p.Cys1420Phe) rs397515804
NM_000138.5(FBN1):c.425G>A (p.Gly142Glu) rs1555405036
NM_000138.5(FBN1):c.4262T>C (p.Leu1421Pro) rs2043386032
NM_000138.5(FBN1):c.4263C>G (p.Leu1421=)
NM_000138.5(FBN1):c.4265A>G (p.Asn1422Ser) rs1057517910
NM_000138.5(FBN1):c.4269A>T (p.Ala1423=) rs775256810
NM_000138.5(FBN1):c.4270C>T (p.Pro1424Ser) rs201273753
NM_000138.5(FBN1):c.4276G>A (p.Gly1426Arg) rs1597552464
NM_000138.5(FBN1):c.4277G>C (p.Gly1426Ala) rs531751210
NM_000138.5(FBN1):c.4280A>G (p.Tyr1427Cys) rs1555397548
NM_000138.5(FBN1):c.4280dup (p.Tyr1427Ter)
NM_000138.5(FBN1):c.4281C>A (p.Tyr1427Ter) rs2141277951
NM_000138.5(FBN1):c.4281C>T (p.Tyr1427=)
NM_000138.5(FBN1):c.4282C>G (p.Arg1428Gly) rs1258352189
NM_000138.5(FBN1):c.4286G>A (p.Cys1429Tyr) rs1555397545
NM_000138.5(FBN1):c.4292G>A (p.Cys1431Tyr) rs1555397540
NM_000138.5(FBN1):c.4293C>A (p.Cys1431Ter) rs112375043
NM_000138.5(FBN1):c.4293C>G (p.Cys1431Trp) rs112375043
NM_000138.5(FBN1):c.4293C>T (p.Cys1431=) rs112375043
NM_000138.5(FBN1):c.4297A>T (p.Met1433Leu)
NM_000138.5(FBN1):c.4300G>T (p.Gly1434Cys)
NM_000138.5(FBN1):c.4302del (p.Phe1435fs) rs2043385268
NM_000138.5(FBN1):c.4305C>T (p.Phe1435=) rs1243628683
NM_000138.5(FBN1):c.4306G>T (p.Val1436Leu) rs377338217
NM_000138.5(FBN1):c.430C>T (p.His144Tyr)
NM_000138.5(FBN1):c.4311del (p.Ser1438fs) rs2141277871
NM_000138.5(FBN1):c.431A>G (p.His144Arg)
NM_000138.5(FBN1):c.4321G>T (p.Gly1441Trp)
NM_000138.5(FBN1):c.4327G>A (p.Ala1443Thr)
NM_000138.5(FBN1):c.432C>A (p.His144Gln)
NM_000138.5(FBN1):c.432C>G (p.His144Gln)
NM_000138.5(FBN1):c.4330T>A (p.Cys1444Ser) rs869025406
NM_000138.5(FBN1):c.4331G>C (p.Cys1444Ser) rs886038940
NM_000138.5(FBN1):c.4332T>G (p.Cys1444Trp) rs2141277826
NM_000138.5(FBN1):c.4336+19A>G rs2043384546
NM_000138.5(FBN1):c.4336+1G>A rs2141277821
NM_000138.5(FBN1):c.4336+1G>T rs2141277821
NM_000138.5(FBN1):c.4336+4_4336+11dup
NM_000138.5(FBN1):c.4336+9T>A
NM_000138.5(FBN1):c.4336G>A (p.Asp1446Asn) rs794728221
NM_000138.5(FBN1):c.4337-12C>T rs573468967
NM_000138.5(FBN1):c.4337-1G>T rs1555397424
NM_000138.5(FBN1):c.4337-2A>T rs794728216
NM_000138.5(FBN1):c.4337-4dup rs1566905439
NM_000138.5(FBN1):c.4337-55dup rs138034853
NM_000138.5(FBN1):c.4337-5C>A rs370959127
NM_000138.5(FBN1):c.4337-8C>A rs1458842000
NM_000138.5(FBN1):c.4337A>G (p.Asp1446Gly) rs397515806
NM_000138.5(FBN1):c.4337A>T (p.Asp1446Val) rs397515806
NM_000138.5(FBN1):c.433T>C (p.Cys145Arg) rs1555405031
NM_000138.5(FBN1):c.4341_4344del (p.Ile1447fs)
NM_000138.5(FBN1):c.4345_4346insCACT (p.Glu1449fs) rs2043366702
NM_000138.5(FBN1):c.4348T>C (p.Cys1450Arg) rs1555397421
NM_000138.5(FBN1):c.4349G>A (p.Cys1450Tyr) rs1555397419
NM_000138.5(FBN1):c.4349G>T (p.Cys1450Phe) rs1555397419
NM_000138.5(FBN1):c.434G>A (p.Cys145Tyr) rs878853682
NM_000138.5(FBN1):c.4358C>A (p.Pro1453Gln)
NM_000138.5(FBN1):c.4362C>T (p.Asn1454=) rs1060504145
NM_000138.5(FBN1):c.4364T>G (p.Ile1455Ser) rs397515807
NM_000138.5(FBN1):c.4367G>T (p.Cys1456Phe) rs397515805
NM_000138.5(FBN1):c.4369_4370del (p.Val1457fs) rs1060501043
NM_000138.5(FBN1):c.4381T>C (p.Cys1461Arg) rs2141275778
NM_000138.5(FBN1):c.4382G>A (p.Cys1461Tyr) rs1057522902
NM_000138.5(FBN1):c.4382G>C (p.Cys1461Ser) rs1057522902
NM_000138.5(FBN1):c.4382G>T (p.Cys1461Phe) rs1057522902
NM_000138.5(FBN1):c.4389C>A (p.Asn1463Lys) rs1555397412
NM_000138.5(FBN1):c.4395T>C (p.Pro1465=) rs1555397410
NM_000138.5(FBN1):c.43G>A (p.Val15Met) rs1890262474
NM_000138.5(FBN1):c.4401G>A (p.Leu1467=)
NM_000138.5(FBN1):c.4401G>C (p.Leu1467=) rs747377334
NM_000138.5(FBN1):c.4404C>G (p.Phe1468Leu) rs780479561
NM_000138.5(FBN1):c.4404C>T (p.Phe1468=) rs780479561
NM_000138.5(FBN1):c.440A>G (p.Gln147Arg) rs747815650
NM_000138.5(FBN1):c.4410_4411del (p.Cys1470_Glu1471delinsTer) rs2141275703
NM_000138.5(FBN1):c.4410dup (p.Glu1471Ter) rs2043365502
NM_000138.5(FBN1):c.4412_4415del (p.Glu1471fs) rs886038846
NM_000138.5(FBN1):c.4414T>A (p.Cys1472Ser) rs1555397403
NM_000138.5(FBN1):c.4414T>C (p.Cys1472Arg) rs1555397403
NM_000138.5(FBN1):c.441del (p.Gln147fs) rs1555405028
NM_000138.5(FBN1):c.442+4A>C rs768207411
NM_000138.5(FBN1):c.442+8C>T rs771771077
NM_000138.5(FBN1):c.4429G>A (p.Glu1477Lys) rs869025407
NM_000138.5(FBN1):c.443-12C>A rs1027154934
NM_000138.5(FBN1):c.443-13C>T
NM_000138.5(FBN1):c.443-17C>G
NM_000138.5(FBN1):c.443-1G>A rs1555404821
NM_000138.5(FBN1):c.443-20G>A
NM_000138.5(FBN1):c.443-8T>C rs1319616777
NM_000138.5(FBN1):c.443-9A>T
NM_000138.5(FBN1):c.4437C>G (p.Asp1479Glu) rs370161725
NM_000138.5(FBN1):c.4453T>C (p.Cys1485Arg) rs730880101
NM_000138.5(FBN1):c.4453T>G (p.Cys1485Gly) rs730880101
NM_000138.5(FBN1):c.4454G>C (p.Cys1485Ser) rs111978932
NM_000138.5(FBN1):c.4458A>C (p.Thr1486=)
NM_000138.5(FBN1):c.4459+15G>T
NM_000138.5(FBN1):c.4459+16G>A
NM_000138.5(FBN1):c.4459+1G>A
NM_000138.5(FBN1):c.4459+2T>G rs1555397393
NM_000138.5(FBN1):c.4459+3A>C
NM_000138.5(FBN1):c.4459+3A>T rs397515809
NM_000138.5(FBN1):c.4459G>A (p.Asp1487Asn) rs113693945
NM_000138.5(FBN1):c.4460-1G>T
NM_000138.5(FBN1):c.4460-9C>A rs372753740
NM_000138.5(FBN1):c.4460A>C (p.Asp1487Ala) rs1555397216
NM_000138.5(FBN1):c.4460A>G (p.Asp1487Gly) rs1555397216
NM_000138.5(FBN1):c.4466A>G (p.Asn1489Ser) rs1057518501
NM_000138.5(FBN1):c.4467T>A (p.Asn1489Lys) rs193922205
NM_000138.5(FBN1):c.4468G>A (p.Glu1490Lys) rs1060501076
NM_000138.5(FBN1):c.4468G>T (p.Glu1490Ter) rs1060501076
NM_000138.5(FBN1):c.4469A>G (p.Glu1490Gly) rs2043341806
NM_000138.5(FBN1):c.4471T>C (p.Cys1491Arg) rs2141273081
NM_000138.5(FBN1):c.4472G>A (p.Cys1491Tyr)
NM_000138.5(FBN1):c.4472G>T (p.Cys1491Phe) rs2141273076
NM_000138.5(FBN1):c.4473C>G (p.Cys1491Trp) rs2043341787
NM_000138.5(FBN1):c.4487C>T (p.Thr1496Met) rs776199613
NM_000138.5(FBN1):c.448T>C (p.Cys150Arg) rs1555404819
NM_000138.5(FBN1):c.4491C>A (p.Cys1497Ter) rs2043341481
NM_000138.5(FBN1):c.449G>A (p.Cys150Tyr) rs2140711857
NM_000138.5(FBN1):c.449G>T (p.Cys150Phe)
NM_000138.5(FBN1):c.4503C>T (p.Asn1501=) rs2043341420
NM_000138.5(FBN1):c.4504T>C (p.Cys1502Arg) rs2141273019
NM_000138.5(FBN1):c.4505G>A (p.Cys1502Tyr) rs397515810
NM_000138.5(FBN1):c.4506T>A (p.Cys1502Ter)
NM_000138.5(FBN1):c.4510A>T (p.Asn1504Tyr) rs1555397211
NM_000138.5(FBN1):c.4511A>G (p.Asn1504Ser) rs1555397209
NM_000138.5(FBN1):c.4511A>T (p.Asn1504Ile) rs1555397209
NM_000138.5(FBN1):c.4512C>T (p.Asn1504=)
NM_000138.5(FBN1):c.4516C>G (p.Pro1506Ala) rs794728224
NM_000138.5(FBN1):c.4517del (p.Pro1506fs) rs2141272985
NM_000138.5(FBN1):c.4520G>A (p.Gly1507Asp) rs794728225
NM_000138.5(FBN1):c.4521C>T (p.Gly1507=) rs1425634624
NM_000138.5(FBN1):c.4523G>T (p.Ser1508Ile) rs1555397207
NM_000138.5(FBN1):c.4525T>G (p.Tyr1509Asp)
NM_000138.5(FBN1):c.4526A>G (p.Tyr1509Cys) rs730880102
NM_000138.5(FBN1):c.4531T>C (p.Cys1511Arg) rs397515811
NM_000138.5(FBN1):c.4532G>A (p.Cys1511Tyr) rs1060501074
NM_000138.5(FBN1):c.4532del (p.Cys1511fs)
NM_000138.5(FBN1):c.4537T>G (p.Cys1513Gly)
NM_000138.5(FBN1):c.4538G>T (p.Cys1513Phe) rs1555397204
NM_000138.5(FBN1):c.4539C>G (p.Cys1513Trp) rs1555397203
NM_000138.5(FBN1):c.4544_4546delinsAGAT (p.Pro1515fs)
NM_000138.5(FBN1):c.4549T>A (p.Phe1517Ile)
NM_000138.5(FBN1):c.4555del (p.Glu1518_Leu1519insTer) rs1555397199
NM_000138.5(FBN1):c.455G>A (p.Ser152Asn) rs1288527435
NM_000138.5(FBN1):c.4562C>T (p.Pro1521Leu) rs2141272892
NM_000138.5(FBN1):c.4562dup (p.Thr1522fs)
NM_000138.5(FBN1):c.4567C>T (p.Arg1523Ter) rs397515812
NM_000138.5(FBN1):c.4569A>T (p.Arg1523=) rs2141272876
NM_000138.5(FBN1):c.4570G>A (p.Val1524Ile) rs2043340600
NM_000138.5(FBN1):c.4574G>A (p.Gly1525Asp) rs1597549030
NM_000138.5(FBN1):c.4576T>C (p.Cys1526Arg)
NM_000138.5(FBN1):c.4577G>C (p.Cys1526Ser)
NM_000138.5(FBN1):c.457G>A (p.Gly153Ser) rs995711019
NM_000138.5(FBN1):c.4581_4582del (p.Asp1528fs) rs2141272855
NM_000138.5(FBN1):c.4582+11A>G
NM_000138.5(FBN1):c.4582+19_4582+21del
NM_000138.5(FBN1):c.4582+1G>A rs1555397195
NM_000138.5(FBN1):c.4582+1G>T rs1555397195
NM_000138.5(FBN1):c.4582+2dup rs1555397194
NM_000138.5(FBN1):c.4582+3A>T rs777845323
NM_000138.5(FBN1):c.4582+4del rs2141272841
NM_000138.5(FBN1):c.4582+5G>C rs140633
NM_000138.5(FBN1):c.4582+7C>T rs768496209
NM_000138.5(FBN1):c.4582G>A (p.Asp1528Asn)
NM_000138.5(FBN1):c.4583-10T>A rs1379865323
NM_000138.5(FBN1):c.4583-12T>C rs1326100045
NM_000138.5(FBN1):c.4583-12T>G
NM_000138.5(FBN1):c.4583-18T>C
NM_000138.5(FBN1):c.4583-2A>G
NM_000138.5(FBN1):c.4583-5A>G rs778966916
NM_000138.5(FBN1):c.4583-6A>T
NM_000138.5(FBN1):c.4583-8G>C rs910464222
NM_000138.5(FBN1):c.4583-9G>A rs2043338449
NM_000138.5(FBN1):c.4583-9G>C rs2043338449
NM_000138.5(FBN1):c.4585A>G (p.Thr1529Ala)
NM_000138.5(FBN1):c.4585dup (p.Thr1529fs) rs2141272535
NM_000138.5(FBN1):c.4587C>T (p.Thr1529=) rs1366052911
NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys) rs111401431
NM_000138.5(FBN1):c.4588del (p.Arg1530fs) rs2043338241
NM_000138.5(FBN1):c.4589G>C (p.Arg1530Pro) rs778710767
NM_000138.5(FBN1):c.4589G>T (p.Arg1530Leu)
NM_000138.5(FBN1):c.458G>C (p.Gly153Ala)
NM_000138.5(FBN1):c.4591del (p.Ser1531fs) rs2141272501
NM_000138.5(FBN1):c.4593T>C (p.Ser1531=) rs985992262
NM_000138.5(FBN1):c.459_460dup (p.Cys154fs) rs2140711798
NM_000138.5(FBN1):c.4600T>C (p.Cys1534Arg) rs2141272479
NM_000138.5(FBN1):c.4607T>G (p.Leu1536Trp) rs2043337989
NM_000138.5(FBN1):c.4615C>T (p.Arg1539Ter) rs111231312
NM_000138.5(FBN1):c.4619C>G (p.Pro1540Arg) rs2043337860
NM_000138.5(FBN1):c.461G>A (p.Cys154Tyr)
NM_000138.5(FBN1):c.461G>C (p.Cys154Ser) rs1057521103
NM_000138.5(FBN1):c.461G>T (p.Cys154Phe)
NM_000138.5(FBN1):c.4620T>G (p.Pro1540=)
NM_000138.5(FBN1):c.4621C>T (p.Arg1541Ter) rs794728228
NM_000138.5(FBN1):c.4625_4626delinsATAATCTCCATTC (p.Gly1542fs) rs2043337762
NM_000138.5(FBN1):c.4635A>T (p.Gly1545=) rs1555397167
NM_000138.5(FBN1):c.4639dup (p.Thr1547fs) rs1597548734
NM_000138.5(FBN1):c.4656A>G (p.Glu1552=) rs768210642
NM_000138.5(FBN1):c.465C>T (p.Leu155=)
NM_000138.5(FBN1):c.465del (p.Asn156fs) rs2044515899
NM_000138.5(FBN1):c.4660G>T (p.Gly1554Ter) rs2043337443
NM_000138.5(FBN1):c.4662A>C (p.Gly1554=)
NM_000138.5(FBN1):c.4663G>C (p.Val1555Leu) rs760055928
NM_000138.5(FBN1):c.4664T>C (p.Val1555Ala)
NM_000138.5(FBN1):c.4671T>C (p.Val1557=) rs978094803
NM_000138.5(FBN1):c.4678G>A (p.Ala1560Thr) rs142858432
NM_000138.5(FBN1):c.4685G>T (p.Cys1562Phe) rs2141272349
NM_000138.5(FBN1):c.4688G>A (p.Cys1563Tyr) rs1131691871
NM_000138.5(FBN1):c.4689C>G (p.Cys1563Trp) rs2043337073
NM_000138.5(FBN1):c.4691G>A (p.Cys1564Tyr) rs267606800
NM_000138.5(FBN1):c.4694C>T (p.Ser1565Phe) rs1555397156
NM_000138.5(FBN1):c.4704_4707dup (p.Trp1570fs)
NM_000138.5(FBN1):c.4710G>A (p.Trp1570Ter) rs267606799
NM_000138.5(FBN1):c.4714A>G (p.Thr1572Ala) rs1597548645
NM_000138.5(FBN1):c.4723G>T (p.Glu1575Ter) rs2141272276
NM_000138.5(FBN1):c.4729T>C (p.Cys1577Arg)
NM_000138.5(FBN1):c.4731T>A (p.Cys1577Ter) rs2141272261
NM_000138.5(FBN1):c.4731T>C (p.Cys1577=)
NM_000138.5(FBN1):c.4741_4747+7del
NM_000138.5(FBN1):c.4742A>G (p.Asn1581Ser)
NM_000138.5(FBN1):c.4744A>G (p.Thr1582Ala)
NM_000138.5(FBN1):c.4744A>T (p.Thr1582Ser)
NM_000138.5(FBN1):c.4745C>T (p.Thr1582Ile)
NM_000138.5(FBN1):c.4745del (p.Thr1582fs) rs2043336561
NM_000138.5(FBN1):c.4747+15T>G
NM_000138.5(FBN1):c.4747+19A>G rs2141272191
NM_000138.5(FBN1):c.4747+1G>A rs2141272220
NM_000138.5(FBN1):c.4747+3A>T rs1555397145
NM_000138.5(FBN1):c.4747+5G>A rs193922209
NM_000138.5(FBN1):c.4747+5G>C rs193922209
NM_000138.5(FBN1):c.4747+5G>T rs193922209
NM_000138.5(FBN1):c.4747+8G>A rs368739764
NM_000138.5(FBN1):c.4747+8G>C
NM_000138.5(FBN1):c.4748-10G>A
NM_000138.5(FBN1):c.4748-10G>C
NM_000138.5(FBN1):c.4748-11T>C rs549918653
NM_000138.5(FBN1):c.4748-19T>A
NM_000138.5(FBN1):c.4748-1G>A rs2141270027
NM_000138.5(FBN1):c.4748-2A>G rs2141270032
NM_000138.5(FBN1):c.4748-2dup rs2043316552
NM_000138.5(FBN1):c.4748-3T>C rs770762644
NM_000138.5(FBN1):c.4748-4A>G
NM_000138.5(FBN1):c.4748C>A (p.Ser1583Tyr)
NM_000138.5(FBN1):c.4749C>T (p.Ser1583=) rs1275608178
NM_000138.5(FBN1):c.474_476del (p.Arg159del) rs2140711718
NM_000138.5(FBN1):c.4764T>C (p.Leu1588=) rs2043316351
NM_000138.5(FBN1):c.4766G>T (p.Cys1589Phe) rs1555397024
NM_000138.5(FBN1):c.4767dup (p.Pro1590fs)
NM_000138.5(FBN1):c.4775G>A (p.Gly1592Glu) rs1555397019
NM_000138.5(FBN1):c.4777del (p.Glu1593fs) rs2141269976
NM_000138.5(FBN1):c.4778A>G (p.Glu1593Gly)
NM_000138.5(FBN1):c.477G>A (p.Arg159=) rs1456579664
NM_000138.5(FBN1):c.4786C>T (p.Arg1596Ter) rs113871094
NM_000138.5(FBN1):c.478T>C (p.Cys160Arg) rs1057518973
NM_000138.5(FBN1):c.478T>G (p.Cys160Gly)
NM_000138.5(FBN1):c.4791A>C (p.Pro1597=) rs2043316050
NM_000138.5(FBN1):c.4799T>G (p.Ile1600Ser)
NM_000138.5(FBN1):c.479G>A (p.Cys160Tyr) rs1555404810
NM_000138.5(FBN1):c.479G>C (p.Cys160Ser)
NM_000138.5(FBN1):c.4802C>G (p.Thr1601Ser)
NM_000138.5(FBN1):c.4811T>A (p.Leu1604Ter)
NM_000138.5(FBN1):c.4815del (p.Asp1606fs) rs2141269914
NM_000138.5(FBN1):c.4816+1G>C rs1555397014
NM_000138.5(FBN1):c.4816+1G>T rs1555397014
NM_000138.5(FBN1):c.4816+2T>C rs1597547226
NM_000138.5(FBN1):c.4816+4A>G rs2141269898
NM_000138.5(FBN1):c.4816+8_4816+9insTACCTTCCTT rs878853684
NM_000138.5(FBN1):c.4816G>A (p.Asp1606Asn) rs2043315819
NM_000138.5(FBN1):c.4817-14T>G
NM_000138.5(FBN1):c.4817-16G>T
NM_000138.5(FBN1):c.4817-2A>G rs1555397008
NM_000138.5(FBN1):c.4817-3_4818dup rs2141269780
NM_000138.5(FBN1):c.4817-7T>C
NM_000138.5(FBN1):c.4817-8T>C rs2043315040
NM_000138.5(FBN1):c.4825G>T (p.Glu1609Ter) rs2141269766
NM_000138.5(FBN1):c.4827G>A (p.Glu1609=)
NM_000138.5(FBN1):c.4829_4838dup (p.Leu1616fs) rs1597547075
NM_000138.5(FBN1):c.4847T>A (p.Leu1616Gln)
NM_000138.5(FBN1):c.4848G>C (p.Leu1616=)
NM_000138.5(FBN1):c.4852C>T (p.Gln1618Ter) rs2141269730
NM_000138.5(FBN1):c.4857_4865del (p.Gly1620_Cys1622del) rs2141269721
NM_000138.5(FBN1):c.4863A>G (p.Lys1621=) rs2043314687
NM_000138.5(FBN1):c.4864T>C (p.Cys1622Arg)
NM_000138.5(FBN1):c.486C>G (p.Ala162=)
NM_000138.5(FBN1):c.486C>T (p.Ala162=) rs2044515505
NM_000138.5(FBN1):c.4875del (p.Phe1626fs)
NM_000138.5(FBN1):c.4881G>A (p.Gly1627=)
NM_000138.5(FBN1):c.4881del (p.Ser1628fs) rs2043314519
NM_000138.5(FBN1):c.4886T>A (p.Phe1629Tyr)
NM_000138.5(FBN1):c.4891T>A (p.Cys1631Ser) rs1555396998
NM_000138.5(FBN1):c.4893C>A (p.Cys1631Ter) rs1597547030
NM_000138.5(FBN1):c.4896C>G (p.Arg1632=) rs2141269637
NM_000138.5(FBN1):c.4897T>C (p.Cys1633Arg)
NM_000138.5(FBN1):c.4905C>T (p.Thr1635=) rs113115949
NM_000138.5(FBN1):c.4907del (p.Gly1636fs)
NM_000138.5(FBN1):c.4911C>A (p.Tyr1637Ter) rs1566903921
NM_000138.5(FBN1):c.4914C>T (p.Tyr1638=)
NM_000138.5(FBN1):c.4915C>G (p.Leu1639Val)
NM_000138.5(FBN1):c.4915del (p.Tyr1638_Leu1639insTer) rs2141269593
NM_000138.5(FBN1):c.4917G>T (p.Leu1639=)
NM_000138.5(FBN1):c.491del (p.Asn164fs) rs2044515447
NM_000138.5(FBN1):c.4930C>T (p.Arg1644Ter) rs140630
NM_000138.5(FBN1):c.4932A>G (p.Arg1644=) rs2043313777
NM_000138.5(FBN1):c.4935G>A (p.Val1645=) rs886038897
NM_000138.5(FBN1):c.4936T>A (p.Cys1646Ser) rs1064793115
NM_000138.5(FBN1):c.493C>T (p.Arg165Ter) rs113905529
NM_000138.5(FBN1):c.4940A>G (p.Asp1647Gly)
NM_000138.5(FBN1):c.4942+14G>A
NM_000138.5(FBN1):c.4942+15T>C
NM_000138.5(FBN1):c.4942+19A>C
NM_000138.5(FBN1):c.4942+19A>T rs2141269507
NM_000138.5(FBN1):c.4942+1G>A rs1566903907
NM_000138.5(FBN1):c.4942+20T>A
NM_000138.5(FBN1):c.4942+2T>C rs2141269534
NM_000138.5(FBN1):c.4942+4A>G rs397515815
NM_000138.5(FBN1):c.4942+8G>C
NM_000138.5(FBN1):c.4942+9T>G
NM_000138.5(FBN1):c.4942G>A (p.Asp1648Asn) rs397515816
NM_000138.5(FBN1):c.4943-13C>T
NM_000138.5(FBN1):c.4943-15C>A
NM_000138.5(FBN1):c.4943-1G>C rs1555396863
NM_000138.5(FBN1):c.4943-25_4943-19del
NM_000138.5(FBN1):c.4943-4A>G rs1555396865
NM_000138.5(FBN1):c.4943A>G (p.Asp1648Gly)
NM_000138.5(FBN1):c.494G>C (p.Arg165Pro) rs1060501079
NM_000138.5(FBN1):c.4951G>A (p.Glu1651Lys) rs886039152
NM_000138.5(FBN1):c.4955G>A (p.Cys1652Tyr) rs397515817
NM_000138.5(FBN1):c.4962T>C (p.Thr1654=)
NM_000138.5(FBN1):c.4962del (p.Pro1655fs)
NM_000138.5(FBN1):c.4965del (p.Gly1656fs) rs1555396861
NM_000138.5(FBN1):c.496T>A (p.Cys166Ser) rs363852
NM_000138.5(FBN1):c.496T>C (p.Cys166Arg) rs363852
NM_000138.5(FBN1):c.4971_4972del (p.Ile1657fs) rs2141267737
NM_000138.5(FBN1):c.4973G>A (p.Cys1658Tyr) rs1555396859
NM_000138.5(FBN1):c.497G>A (p.Cys166Tyr) rs397515818
NM_000138.5(FBN1):c.4984A>T (p.Thr1662Ser) rs1471557498
NM_000138.5(FBN1):c.4988G>T (p.Cys1663Phe) rs1555396853
NM_000138.5(FBN1):c.4989_4990insGGTCCAGGGTCCTGGAATCTGTGGTCCAGGT (p.Tyr1664fs)
NM_000138.5(FBN1):c.4994A>C (p.Asn1665Thr)
NM_000138.5(FBN1):c.4996_5007del (p.Thr1666_Asn1669del) rs2141267678
NM_000138.5(FBN1):c.4998C>T (p.Thr1666=) rs141925790
NM_000138.5(FBN1):c.5000T>C (p.Val1667Ala)
NM_000138.5(FBN1):c.5009_5020del (p.Tyr1670_Ile1673del)
NM_000138.5(FBN1):c.5011A>C (p.Thr1671Pro)
NM_000138.5(FBN1):c.5013C>T (p.Thr1671=)
NM_000138.5(FBN1):c.5014T>G (p.Cys1672Gly) rs112930491
NM_000138.5(FBN1):c.5015G>T (p.Cys1672Phe) rs140627
NM_000138.5(FBN1):c.5016T>A (p.Cys1672Ter) rs1555396848
NM_000138.5(FBN1):c.5016dup (p.Ile1673fs) rs869025426
NM_000138.5(FBN1):c.5018T>C (p.Ile1673Thr) rs2043300504
NM_000138.5(FBN1):c.5021G>A (p.Cys1674Tyr) rs794728233
NM_000138.5(FBN1):c.5021_5022del (p.Cys1674fs)
NM_000138.5(FBN1):c.502T>A (p.Cys168Ser) rs2044515247
NM_000138.5(FBN1):c.502T>C (p.Cys168Arg) rs2044515247
NM_000138.5(FBN1):c.5030A>G (p.Asp1677Gly)
NM_000138.5(FBN1):c.5031C>T (p.Asp1677=) rs1597545860
NM_000138.5(FBN1):c.5035A>C (p.Met1679Leu)
NM_000138.5(FBN1):c.5035A>G (p.Met1679Val) rs759114752
NM_000138.5(FBN1):c.5038C>T (p.Gln1680Ter) rs878853685
NM_000138.5(FBN1):c.503G>A (p.Cys168Tyr) rs1555404803
NM_000138.5(FBN1):c.5041G>A (p.Val1681Met)
NM_000138.5(FBN1):c.5042T>C (p.Val1681Ala)
NM_000138.5(FBN1):c.5051G>A (p.Gly1684Glu)
NM_000138.5(FBN1):c.5054del (p.Asn1685fs)
NM_000138.5(FBN1):c.5060G>A (p.Cys1687Tyr)
NM_000138.5(FBN1):c.5060G>T (p.Cys1687Phe)
NM_000138.5(FBN1):c.5062del (p.Met1688fs) rs1555396837
NM_000138.5(FBN1):c.5065+1G>A rs1296209846
NM_000138.5(FBN1):c.5065+1G>C rs1296209846
NM_000138.5(FBN1):c.5065+1G>T rs1296209846
NM_000138.5(FBN1):c.5065+2dup rs1555396835
NM_000138.5(FBN1):c.5066-12C>A rs531105331
NM_000138.5(FBN1):c.5066-12C>T rs531105331
NM_000138.5(FBN1):c.5066-14del rs3833018
NM_000138.5(FBN1):c.5066-14dup rs3833018
NM_000138.5(FBN1):c.5066-15_5066-14del rs3833018
NM_000138.5(FBN1):c.5066-15_5066-14dup rs3833018
NM_000138.5(FBN1):c.5066-19T>C
NM_000138.5(FBN1):c.5066-1G>A rs397515819
NM_000138.5(FBN1):c.5066-1G>T rs397515819
NM_000138.5(FBN1):c.5066-3T>C rs2141266776
NM_000138.5(FBN1):c.5066-5dup
NM_000138.5(FBN1):c.5066-9_5086dup rs1566903283
NM_000138.5(FBN1):c.5073AAG[1] (p.Arg1692del) rs1555396789
NM_000138.5(FBN1):c.5076A>G (p.Arg1692=) rs2141266766
NM_000138.5(FBN1):c.5084G>A (p.Cys1695Tyr)
NM_000138.5(FBN1):c.5087A>G (p.Tyr1696Cys) rs387906625
NM_000138.5(FBN1):c.5093A>G (p.Asn1698Ser) rs2043293815
NM_000138.5(FBN1):c.5094del (p.Tyr1699fs) rs1060501031
NM_000138.5(FBN1):c.5095T>A (p.Tyr1699Asn) rs2043293738
NM_000138.5(FBN1):c.5096A>G (p.Tyr1699Cys) rs387906622
NM_000138.5(FBN1):c.5097C>G (p.Tyr1699Ter) rs368979510
NM_000138.5(FBN1):c.5099A>G (p.Tyr1700Cys) rs387906626
NM_000138.5(FBN1):c.509dup (p.Tyr170Ter)
NM_000138.5(FBN1):c.50T>C (p.Leu17Ser) rs794728201
NM_000138.5(FBN1):c.5100T>C (p.Tyr1700=)
NM_000138.5(FBN1):c.5101_5102delinsTT (p.Ala1701Phe)
NM_000138.5(FBN1):c.5102C>T (p.Ala1701Val)
NM_000138.5(FBN1):c.5109C>T (p.Asn1703=) rs1235270306
NM_000138.5(FBN1):c.510C>G (p.Tyr170Ter) rs111671429
NM_000138.5(FBN1):c.5111del (p.Gln1704fs) rs2141266677
NM_000138.5(FBN1):c.5117G>A (p.Cys1706Tyr)
NM_000138.5(FBN1):c.511G>A (p.Gly171Arg) rs1566934693
NM_000138.5(FBN1):c.511G>T (p.Gly171Ter) rs1566934693
NM_000138.5(FBN1):c.5121T>C (p.Asp1707=) rs1031351464
NM_000138.5(FBN1):c.5129T>C (p.Leu1710Ser)
NM_000138.5(FBN1):c.5144C>T (p.Thr1715Ile)
NM_000138.5(FBN1):c.5147AGA[1] (p.Lys1717del) rs2043292746
NM_000138.5(FBN1):c.5156G>A (p.Cys1719Tyr) rs1555396769
NM_000138.5(FBN1):c.5157C>A (p.Cys1719Ter) rs2043292643
NM_000138.5(FBN1):c.5158T>C (p.Cys1720Arg) rs1597545230
NM_000138.5(FBN1):c.5159G>A (p.Cys1720Tyr)
NM_000138.5(FBN1):c.5160C>G (p.Cys1720Trp)
NM_000138.5(FBN1):c.5162G>A (p.Cys1721Tyr) rs2043292594
NM_000138.5(FBN1):c.5174T>A (p.Ile1725Asn) rs2141266590
NM_000138.5(FBN1):c.5178C>T (p.Gly1726=) rs1303761807
NM_000138.5(FBN1):c.5179C>T (p.Arg1727Trp)
NM_000138.5(FBN1):c.5181G>C (p.Arg1727=) rs1288751290
NM_000138.5(FBN1):c.5182G>C (p.Ala1728Pro) rs387906624
NM_000138.5(FBN1):c.5182_5183delinsTA (p.Ala1728Ter)
NM_000138.5(FBN1):c.5183C>T (p.Ala1728Val) rs1131691804
NM_000138.5(FBN1):c.5189del (p.Asn1730fs) rs2043292163
NM_000138.5(FBN1):c.5190del (p.Asn1730fs) rs2043292112
NM_000138.5(FBN1):c.51_52del (p.Leu17fs) rs2140787769
NM_000138.5(FBN1):c.5200G>A (p.Glu1734Lys)
NM_000138.5(FBN1):c.5203dup (p.Gln1735fs) rs1555396760
NM_000138.5(FBN1):c.5207G>A (p.Cys1736Tyr) rs1060501070
NM_000138.5(FBN1):c.520G>A (p.Gly174Arg)
NM_000138.5(FBN1):c.5210C>T (p.Pro1737Leu) rs2141266510
NM_000138.5(FBN1):c.5214C>T (p.Ile1738=)
NM_000138.5(FBN1):c.5224+11G>A rs776454928
NM_000138.5(FBN1):c.5225-10A>T
NM_000138.5(FBN1):c.5225-2A>G
NM_000138.5(FBN1):c.5225-3C>A rs876657810
NM_000138.5(FBN1):c.5232T>C (p.Phe1744=)
NM_000138.5(FBN1):c.5234C>T (p.Ala1745Val) rs2043271430
NM_000138.5(FBN1):c.5242T>C (p.Cys1748Arg)
NM_000138.5(FBN1):c.5244T>G (p.Cys1748Trp)
NM_000138.5(FBN1):c.5244_5245del (p.Cys1748fs) rs1555396636
NM_000138.5(FBN1):c.524C>G (p.Pro175Arg)
NM_000138.5(FBN1):c.5258_5260dup (p.Pro1753_Gly1754insAla)
NM_000138.5(FBN1):c.5259A>G (p.Pro1753=)
NM_000138.5(FBN1):c.5261G>A (p.Gly1754Asp)
NM_000138.5(FBN1):c.5261G>T (p.Gly1754Val)
NM_000138.5(FBN1):c.5270T>C (p.Ile1757Thr) rs2141264003
NM_000138.5(FBN1):c.5271C>A (p.Ile1757=)
NM_000138.5(FBN1):c.5271C>T (p.Ile1757=) rs1291913287
NM_000138.5(FBN1):c.5272G>A (p.Asp1758Asn)
NM_000138.5(FBN1):c.5274C>T (p.Asp1758=) rs1566902542
NM_000138.5(FBN1):c.5277T>G (p.Ile1759Met)
NM_000138.5(FBN1):c.5279A>G (p.Tyr1760Cys) rs1597543452
NM_000138.5(FBN1):c.5283C>G (p.Thr1761=)
NM_000138.5(FBN1):c.5284G>A (p.Gly1762Ser) rs387906623
NM_000138.5(FBN1):c.5290C>T (p.Pro1764Ser)
NM_000138.5(FBN1):c.5291C>A (p.Pro1764His) rs2043270903
NM_000138.5(FBN1):c.5293G>T (p.Val1765Phe)
NM_000138.5(FBN1):c.5296+10G>A
NM_000138.5(FBN1):c.5296+12C>G rs566030960
NM_000138.5(FBN1):c.5296+1G>A
NM_000138.5(FBN1):c.5296+2T>G
NM_000138.5(FBN1):c.5296+3G>C
NM_000138.5(FBN1):c.5296+3G>T rs2043270772
NM_000138.5(FBN1):c.5296+5G>A rs1566902515
NM_000138.5(FBN1):c.5296+5G>C rs1566902515
NM_000138.5(FBN1):c.5296+6T>C rs1555396629
NM_000138.5(FBN1):c.5296+7C>T
NM_000138.5(FBN1):c.5296+8A>C
NM_000138.5(FBN1):c.5296G>C (p.Asp1766His) rs1555396631
NM_000138.5(FBN1):c.5297-10C>T
NM_000138.5(FBN1):c.5297-15C>T
NM_000138.5(FBN1):c.52G>C (p.Ala18Pro) rs1890262148
NM_000138.5(FBN1):c.5300T>C (p.Ile1767Thr)
NM_000138.5(FBN1):c.5305G>A (p.Glu1769Lys) rs2141260472
NM_000138.5(FBN1):c.5307G>A (p.Glu1769=)
NM_000138.5(FBN1):c.5309G>A (p.Cys1770Tyr) rs2043241537
NM_000138.5(FBN1):c.530G>A (p.Cys177Tyr) rs113695103
NM_000138.5(FBN1):c.5311dup (p.Arg1771fs) rs1597540923
NM_000138.5(FBN1):c.5330G>A (p.Cys1777Tyr) rs1060501069
NM_000138.5(FBN1):c.5338G>A (p.Gly1780Arg)
NM_000138.5(FBN1):c.5339G>A (p.Gly1780Glu)
NM_000138.5(FBN1):c.5339G>T (p.Gly1780Val) rs2141260428
NM_000138.5(FBN1):c.5343G>C (p.Val1781=)
NM_000138.5(FBN1):c.5358T>C (p.Val1786=) rs1057521207
NM_000138.5(FBN1):c.5359G>T (p.Gly1787Cys)
NM_000138.5(FBN1):c.5360G>A (p.Gly1787Asp) rs2141260386
NM_000138.5(FBN1):c.5363G>A (p.Ser1788Asn) rs1303042338
NM_000138.5(FBN1):c.5365T>A (p.Phe1789Ile)
NM_000138.5(FBN1):c.5367C>T (p.Phe1789=)
NM_000138.5(FBN1):c.5368C>T (p.Arg1790Ter) rs113249837
NM_000138.5(FBN1):c.5369G>A (p.Arg1790Gln) rs1555396428
NM_000138.5(FBN1):c.5371T>C (p.Cys1791Arg) rs1555396427
NM_000138.5(FBN1):c.5371T>G (p.Cys1791Gly) rs1555396427
NM_000138.5(FBN1):c.5372G>A (p.Cys1791Tyr) rs886038848
NM_000138.5(FBN1):c.5377T>C (p.Cys1793Arg) rs1555396424
NM_000138.5(FBN1):c.538+12T>A
NM_000138.5(FBN1):c.538+12del rs755209856
NM_000138.5(FBN1):c.5387del (p.Gly1796fs) rs2043240342
NM_000138.5(FBN1):c.539-2A>G rs2141358521
NM_000138.5(FBN1):c.5391C>T (p.Phe1797=) rs775373513
NM_000138.5(FBN1):c.5396dup (p.Tyr1799Ter)
NM_000138.5(FBN1):c.5403C>T (p.Asp1801=)
NM_000138.5(FBN1):c.5409G>A (p.Leu1803=) rs906226501
NM_000138.5(FBN1):c.5416T>C (p.Cys1806Arg) rs1555396419
NM_000138.5(FBN1):c.5417G>T (p.Cys1806Phe) rs1555396418
NM_000138.5(FBN1):c.5418T>G (p.Cys1806Trp) rs2043239853
NM_000138.5(FBN1):c.5422+13A>T
NM_000138.5(FBN1):c.5422+1G>A rs1064793116
NM_000138.5(FBN1):c.5422+2T>C rs1555396417
NM_000138.5(FBN1):c.5422_5422+1delinsTT rs1566901570
NM_000138.5(FBN1):c.5423-16T>C
NM_000138.5(FBN1):c.5423-17T>G
NM_000138.5(FBN1):c.5423-18G>T
NM_000138.5(FBN1):c.5423-19A>G
NM_000138.5(FBN1):c.5423-1G>C
NM_000138.5(FBN1):c.5423-30_5423-28del rs56354352
NM_000138.5(FBN1):c.5423A>G (p.Asp1808Gly) rs2141256144
NM_000138.5(FBN1):c.5425A>G (p.Ile1809Val)
NM_000138.5(FBN1):c.5427T>C (p.Ile1809=) rs2141256134
NM_000138.5(FBN1):c.5431G>A (p.Glu1811Lys) rs761857514
NM_000138.5(FBN1):c.5431G>T (p.Glu1811Ter) rs761857514
NM_000138.5(FBN1):c.5432A>G (p.Glu1811Gly) rs2141256116
NM_000138.5(FBN1):c.5434T>A (p.Cys1812Ser)
NM_000138.5(FBN1):c.5434T>C (p.Cys1812Arg) rs1597537935
NM_000138.5(FBN1):c.5435_5436del (p.Cys1812fs)
NM_000138.5(FBN1):c.5437C>T (p.Gln1813Ter) rs397515821
NM_000138.5(FBN1):c.5439G>C (p.Gln1813His)
NM_000138.5(FBN1):c.5447del (p.Pro1816fs)
NM_000138.5(FBN1):c.5448A>G (p.Pro1816=) rs2043210295
NM_000138.5(FBN1):c.5452T>G (p.Cys1818Gly)
NM_000138.5(FBN1):c.5453G>A (p.Cys1818Tyr) rs2141256069
NM_000138.5(FBN1):c.5458C>A (p.Arg1820Ser)
NM_000138.5(FBN1):c.5459_5465del (p.Arg1820fs)
NM_000138.5(FBN1):c.5470T>C (p.Cys1824Arg) rs1131691478
NM_000138.5(FBN1):c.5473A>G (p.Ile1825Val) rs2141256032
NM_000138.5(FBN1):c.5477A>G (p.Asn1826Ser) rs2043210015
NM_000138.5(FBN1):c.5478C>T (p.Asn1826=) rs1213848361
NM_000138.5(FBN1):c.5482G>A (p.Ala1828Thr) rs1566900504
NM_000138.5(FBN1):c.5485G>C (p.Gly1829Arg) rs1597537835
NM_000138.5(FBN1):c.5485G>T (p.Gly1829Cys)
NM_000138.5(FBN1):c.5486dup (p.Ser1830fs)
NM_000138.5(FBN1):c.5493C>A (p.Tyr1831Ter) rs1555396201
NM_000138.5(FBN1):c.5494C>T (p.Arg1832Cys)
NM_000138.5(FBN1):c.5495G>T (p.Arg1832Leu)
NM_000138.5(FBN1):c.5498G>A (p.Cys1833Tyr) rs1597537815
NM_000138.5(FBN1):c.5503T>A (p.Cys1835Ser) rs1555396198
NM_000138.5(FBN1):c.5503T>C (p.Cys1835Arg) rs1555396198
NM_000138.5(FBN1):c.5503_5517del (p.Cys1835_Tyr1839del) rs2141255919
NM_000138.5(FBN1):c.5504G>A (p.Cys1835Tyr) rs111929350
NM_000138.5(FBN1):c.5504G>C (p.Cys1835Ser) rs111929350
NM_000138.5(FBN1):c.5512G>C (p.Gly1838Arg) rs397515823
NM_000138.5(FBN1):c.5513G>A (p.Gly1838Asp) rs78970689
NM_000138.5(FBN1):c.5513del (p.Gly1838fs) rs2141255941
NM_000138.5(FBN1):c.5516A>C (p.Tyr1839Ser)
NM_000138.5(FBN1):c.5516A>G (p.Tyr1839Cys) rs758725993
NM_000138.5(FBN1):c.551del (p.Gly184fs)
NM_000138.5(FBN1):c.5525C>T (p.Thr1842Ile) rs1566900477
NM_000138.5(FBN1):c.5532A>G (p.Thr1844=)
NM_000138.5(FBN1):c.5533G>T (p.Gly1845Ter)
NM_000138.5(FBN1):c.5534del (p.Gly1845fs) rs2141255875
NM_000138.5(FBN1):c.5536C>T (p.Gln1846Ter) rs1566900473
NM_000138.5(FBN1):c.5540G>A (p.Cys1847Tyr) rs1555396185
NM_000138.5(FBN1):c.5545+12C>T rs193922213
NM_000138.5(FBN1):c.5545+14del rs748182794
NM_000138.5(FBN1):c.5545+15A>G
NM_000138.5(FBN1):c.5545+19G>C
NM_000138.5(FBN1):c.5545+1G>A rs1260109901
NM_000138.5(FBN1):c.5545+1del rs1566900469
NM_000138.5(FBN1):c.5545+2T>C rs2043209059
NM_000138.5(FBN1):c.5545+3A>G
NM_000138.5(FBN1):c.5546-11C>G
NM_000138.5(FBN1):c.5546-15G>A
NM_000138.5(FBN1):c.5546-1G>A rs1566899590
NM_000138.5(FBN1):c.5546-3C>G
NM_000138.5(FBN1):c.5546-8A>T
NM_000138.5(FBN1):c.554C>T (p.Pro185Leu)
NM_000138.5(FBN1):c.5552A>G (p.Asn1851Ser) rs193922214
NM_000138.5(FBN1):c.5555A>C (p.Glu1852Ala)
NM_000138.5(FBN1):c.5555A>G (p.Glu1852Gly) rs864622676
NM_000138.5(FBN1):c.5557T>C (p.Cys1853Arg) rs1555395990
NM_000138.5(FBN1):c.5558G>A (p.Cys1853Tyr) rs1555395989
NM_000138.5(FBN1):c.5559T>G (p.Cys1853Trp)
NM_000138.5(FBN1):c.5560C>T (p.Gln1854Ter) rs2141252259
NM_000138.5(FBN1):c.5563G>T (p.Glu1855Ter)
NM_000138.5(FBN1):c.5566A>G (p.Ile1856Val) rs2141252254
NM_000138.5(FBN1):c.5569C>T (p.Pro1857Ser) rs2043179615
NM_000138.5(FBN1):c.5571del (p.Asn1858fs) rs1597535305
NM_000138.5(FBN1):c.5573A>C (p.Asn1858Thr) rs751472490
NM_000138.5(FBN1):c.5575A>G (p.Ile1859Val)
NM_000138.5(FBN1):c.5576T>C (p.Ile1859Thr)
NM_000138.5(FBN1):c.5578T>C (p.Cys1860Arg)
NM_000138.5(FBN1):c.5579G>A (p.Cys1860Tyr) rs1597535300
NM_000138.5(FBN1):c.5586T>C (p.His1862=)
NM_000138.5(FBN1):c.5588G>A (p.Gly1863Glu) rs113086760
NM_000138.5(FBN1):c.5590C>T (p.Gln1864Ter) rs1555395985
NM_000138.5(FBN1):c.5593T>C (p.Cys1865Arg) rs1555395984
NM_000138.5(FBN1):c.5597T>C (p.Ile1866Thr) rs773133679
NM_000138.5(FBN1):c.5603C>G (p.Thr1868Arg) rs145082616
NM_000138.5(FBN1):c.5604A>G (p.Thr1868=)
NM_000138.5(FBN1):c.5607T>C (p.Val1869=) rs1597535252
NM_000138.5(FBN1):c.5607dup (p.Gly1870fs)
NM_000138.5(FBN1):c.560T>A (p.Phe187Tyr)
NM_000138.5(FBN1):c.5613C>A (p.Ser1871Arg) rs776310363
NM_000138.5(FBN1):c.5613del (p.Tyr1873fs) rs1566899541
NM_000138.5(FBN1):c.5619T>C (p.Tyr1873=)
NM_000138.5(FBN1):c.5627G>A (p.Cys1876Tyr) rs112728248
NM_000138.5(FBN1):c.5628C>G (p.Cys1876Trp) rs2141252143
NM_000138.5(FBN1):c.5637T>G (p.Gly1879=)
NM_000138.5(FBN1):c.5638T>G (p.Phe1880Val) rs1555395977
NM_000138.5(FBN1):c.5639T>C (p.Phe1880Ser) rs1597535186
NM_000138.5(FBN1):c.5651A>T (p.Asp1884Val)
NM_000138.5(FBN1):c.5655C>G (p.Asp1885Glu)
NM_000138.5(FBN1):c.5656C>T (p.Gln1886Ter)
NM_000138.5(FBN1):c.565G>T (p.Val189Leu) rs2044026712
NM_000138.5(FBN1):c.565del (p.Thr188_Val189insTer) rs2141358467
NM_000138.5(FBN1):c.5664G>A (p.Met1888Ile) rs1060501056
NM_000138.5(FBN1):c.5666G>A (p.Cys1889Tyr) rs1566899500
NM_000138.5(FBN1):c.5666G>T (p.Cys1889Phe) rs1566899500
NM_000138.5(FBN1):c.5667C>G (p.Cys1889Trp)
NM_000138.5(FBN1):c.5671+1G>A rs112104270
NM_000138.5(FBN1):c.5671+1G>T rs112104270
NM_000138.5(FBN1):c.5671+2T>C
NM_000138.5(FBN1):c.5671G>A (p.Asp1891Asn) rs193922216
NM_000138.5(FBN1):c.5671G>C (p.Asp1891His) rs193922216
NM_000138.5(FBN1):c.5671G>T (p.Asp1891Tyr)
NM_000138.5(FBN1):c.5672-14T>C
NM_000138.5(FBN1):c.5672-1G>A rs1555395849
NM_000138.5(FBN1):c.5672-2A>G rs1060501053
NM_000138.5(FBN1):c.5672-2A>T
NM_000138.5(FBN1):c.5672-3T>C rs193922217
NM_000138.5(FBN1):c.5672-4C>G
NM_000138.5(FBN1):c.5672-5A>G
NM_000138.5(FBN1):c.5672-6T>A rs1555395850
NM_000138.5(FBN1):c.5672-87A>G rs1060501029
NM_000138.5(FBN1):c.5672-8C>G rs2141250478
NM_000138.5(FBN1):c.5674A>G (p.Ile1892Val) rs760170973
NM_000138.5(FBN1):c.5674A>T (p.Ile1892Leu) rs760170973
NM_000138.5(FBN1):c.5674del (p.Asp1891_Ile1892insTer)
NM_000138.5(FBN1):c.5678A>G (p.Asn1893Ser) rs1597533707
NM_000138.5(FBN1):c.5679T>G (p.Asn1893Lys) rs1597533706
NM_000138.5(FBN1):c.5683T>C (p.Cys1895Arg) rs878853686
NM_000138.5(FBN1):c.5684G>A (p.Cys1895Tyr)
NM_000138.5(FBN1):c.5688_5691del (p.Arg1897fs) rs1566898828
NM_000138.5(FBN1):c.5695del (p.Ala1899fs) rs2043163540
NM_000138.5(FBN1):c.5697C>T (p.Ala1899=) rs772617187
NM_000138.5(FBN1):c.5698T>C (p.Cys1900Arg)
NM_000138.5(FBN1):c.5699G>A (p.Cys1900Tyr) rs794728237
NM_000138.5(FBN1):c.5703del (p.Asn1902fs)
NM_000138.5(FBN1):c.5706T>C (p.Asn1902=) rs1597533673
NM_000138.5(FBN1):c.570C>T (p.Ile190=)
NM_000138.5(FBN1):c.5711C>T (p.Thr1904Ile) rs1269096957
NM_000138.5(FBN1):c.5714G>T (p.Cys1905Phe)
NM_000138.5(FBN1):c.5716del (p.Arg1906fs) rs2141250394
NM_000138.5(FBN1):c.5718G>C (p.Arg1906=) rs1403178913
NM_000138.5(FBN1):c.5719A>G (p.Asn1907Asp) rs397515824
NM_000138.5(FBN1):c.5720A>G (p.Asn1907Ser) rs1060501087
NM_000138.5(FBN1):c.5725A>C (p.Ile1909Leu) rs886038785
NM_000138.5(FBN1):c.5725A>G (p.Ile1909Val)
NM_000138.5(FBN1):c.5726T>C (p.Ile1909Thr) rs794728333
NM_000138.5(FBN1):c.5728G>T (p.Gly1910Cys) rs1597533619
NM_000138.5(FBN1):c.5729G>T (p.Gly1910Val)
NM_000138.5(FBN1):c.572G>T (p.Ser191Ile)
NM_000138.5(FBN1):c.5736C>G (p.Phe1912Leu) rs1555395829
NM_000138.5(FBN1):c.5740T>G (p.Cys1914Gly) rs2141250333
NM_000138.5(FBN1):c.5743C>T (p.Arg1915Cys) rs1555395826
NM_000138.5(FBN1):c.5744G>A (p.Arg1915His)
NM_000138.5(FBN1):c.5746T>G (p.Cys1916Gly) rs794728238
NM_000138.5(FBN1):c.5746_5748dup (p.Cys1916dup) rs1597533588
NM_000138.5(FBN1):c.5747G>A (p.Cys1916Tyr) rs397515827
NM_000138.5(FBN1):c.5747G>T (p.Cys1916Phe) rs397515827
NM_000138.5(FBN1):c.5755G>A (p.Gly1919Ser) rs867549163
NM_000138.5(FBN1):c.5756del (p.Gly1919fs) rs1555395825
NM_000138.5(FBN1):c.5762T>G (p.Ile1921Ser)
NM_000138.5(FBN1):c.5770C>A (p.His1924Asn) rs1201849394
NM_000138.5(FBN1):c.5774A>G (p.Asn1925Ser) rs781395141
NM_000138.5(FBN1):c.577_583delinsAA (p.Gln193fs) rs2044026528
NM_000138.5(FBN1):c.5782T>C (p.Cys1928Arg) rs2043162224
NM_000138.5(FBN1):c.5783G>A (p.Cys1928Tyr) rs587782947
NM_000138.5(FBN1):c.5788+10del rs761983874
NM_000138.5(FBN1):c.5788+13_5788+14del rs886038252
NM_000138.5(FBN1):c.5788+15T>A rs543458649
NM_000138.5(FBN1):c.5788+15T>C rs543458649
NM_000138.5(FBN1):c.5788+2T>C rs1555395818
NM_000138.5(FBN1):c.5788+4C>A rs577301285
NM_000138.5(FBN1):c.5788+4C>T rs577301285
NM_000138.5(FBN1):c.5788+5G>C
NM_000138.5(FBN1):c.5788+6T>G rs1566898741
NM_000138.5(FBN1):c.5788G>C (p.Asp1930His) rs1555395820
NM_000138.5(FBN1):c.5789-10T>A rs2141249325
NM_000138.5(FBN1):c.5789-11T>G
NM_000138.5(FBN1):c.5789-13G>A rs777593835
NM_000138.5(FBN1):c.5789-14G>A
NM_000138.5(FBN1):c.5789-1G>A rs2043152080
NM_000138.5(FBN1):c.5789A>G (p.Asp1930Gly)
NM_000138.5(FBN1):c.5791G>A (p.Val1931Ile) rs1555395768
NM_000138.5(FBN1):c.5797G>A (p.Glu1933Lys) rs2141249307
NM_000138.5(FBN1):c.57C>G (p.Ser19=) rs1890261910
NM_000138.5(FBN1):c.5801G>A (p.Cys1934Tyr) rs794728240
NM_000138.5(FBN1):c.5801G>C (p.Cys1934Ser) rs794728240
NM_000138.5(FBN1):c.5802T>G (p.Cys1934Trp) rs2141249297
NM_000138.5(FBN1):c.5810G>A (p.Gly1937Glu) rs1566898444
NM_000138.5(FBN1):c.5817del (p.Asn1940fs) rs794728311
NM_000138.5(FBN1):c.5821C>T (p.Leu1941Phe) rs1555395763
NM_000138.5(FBN1):c.5823_5824del (p.Cys1942fs) rs1060501089
NM_000138.5(FBN1):c.5824T>A (p.Cys1942Ser) rs1555395762
NM_000138.5(FBN1):c.5824T>C (p.Cys1942Arg) rs1555395762
NM_000138.5(FBN1):c.5824T>G (p.Cys1942Gly) rs1555395762
NM_000138.5(FBN1):c.5825G>A (p.Cys1942Tyr) rs794728241
NM_000138.5(FBN1):c.5828G>T (p.Arg1943Ile) rs1566898433
NM_000138.5(FBN1):c.5831del (p.Asn1944fs)
NM_000138.5(FBN1):c.5836C>T (p.Gln1946Ter)
NM_000138.5(FBN1):c.5838A>G (p.Gln1946=) rs759049300
NM_000138.5(FBN1):c.5839T>A (p.Cys1947Ser) rs1131691938
NM_000138.5(FBN1):c.5839T>C (p.Cys1947Arg) rs1131691938
NM_000138.5(FBN1):c.5839T>G (p.Cys1947Gly) rs1131691938
NM_000138.5(FBN1):c.5840G>A (p.Cys1947Tyr) rs397515828
NM_000138.5(FBN1):c.5846_5850dup (p.Val1951fs) rs2043151379
NM_000138.5(FBN1):c.5850A>G (p.Thr1950=) rs2043151355
NM_000138.5(FBN1):c.5855G>T (p.Gly1952Val) rs2141249218
NM_000138.5(FBN1):c.5856G>T (p.Gly1952=)
NM_000138.5(FBN1):c.5856del (p.Ser1953fs)
NM_000138.5(FBN1):c.5860_5863dup (p.Gln1955fs) rs2043151079
NM_000138.5(FBN1):c.5861T>G (p.Phe1954Cys) rs730880104
NM_000138.5(FBN1):c.5862C>G (p.Phe1954Leu)
NM_000138.5(FBN1):c.5863C>T (p.Gln1955Ter) rs363807
NM_000138.5(FBN1):c.5863CAGTGC[1] (p.1955QC[1])
NM_000138.5(FBN1):c.5864A>G (p.Gln1955Arg)
NM_000138.5(FBN1):c.5872T>A (p.Cys1958Ser) rs2141249174
NM_000138.5(FBN1):c.5874C>A (p.Cys1958Ter) rs1555395750
NM_000138.5(FBN1):c.5885A>G (p.Tyr1962Cys) rs1346043320
NM_000138.5(FBN1):c.5892G>A (p.Val1964=)
NM_000138.5(FBN1):c.5902G>A (p.Gly1968Arg) rs768997549
NM_000138.5(FBN1):c.5911T>C (p.Cys1971Arg) rs1555395745
NM_000138.5(FBN1):c.5912del (p.Cys1971fs) rs2043150170
NM_000138.5(FBN1):c.5917+11G>A
NM_000138.5(FBN1):c.5917+15del
NM_000138.5(FBN1):c.5917+1G>A rs363808
NM_000138.5(FBN1):c.5917+1G>T rs363808
NM_000138.5(FBN1):c.5917+20A>G
NM_000138.5(FBN1):c.5917+8C>T rs1566898389
NM_000138.5(FBN1):c.5918-1G>A rs1566898144
NM_000138.5(FBN1):c.5918-1G>C rs1566898144
NM_000138.5(FBN1):c.5918-2A>G rs869025418
NM_000138.5(FBN1):c.5918A>G (p.Asp1973Gly) rs794728242
NM_000138.5(FBN1):c.5924A>G (p.Asn1975Ser) rs2141248181
NM_000138.5(FBN1):c.5926G>A (p.Glu1976Lys)
NM_000138.5(FBN1):c.5926del (p.Glu1976fs)
NM_000138.5(FBN1):c.5927A>C (p.Glu1976Ala) rs1555395665
NM_000138.5(FBN1):c.5929T>A (p.Cys1977Ser) rs2141248174
NM_000138.5(FBN1):c.592C>T (p.Gln198Ter) rs1060501035
NM_000138.5(FBN1):c.5930G>A (p.Cys1977Tyr) rs1555395663
NM_000138.5(FBN1):c.5931T>A (p.Cys1977Ter)
NM_000138.5(FBN1):c.5936T>C (p.Leu1979Pro)
NM_000138.5(FBN1):c.5937_5938insT (p.Glu1980Ter) rs2141248157
NM_000138.5(FBN1):c.5938G>C (p.Glu1980Gln) rs370940450
NM_000138.5(FBN1):c.5943del (p.Arg1982fs) rs1555395661
NM_000138.5(FBN1):c.5950T>C (p.Cys1984Arg) rs1555395659
NM_000138.5(FBN1):c.5951G>A (p.Cys1984Tyr) rs1555395658
NM_000138.5(FBN1):c.5952T>G (p.Cys1984Trp)
NM_000138.5(FBN1):c.5959G>T (p.Gly1987Cys)
NM_000138.5(FBN1):c.595C>G (p.Leu199Val) rs1221144366
NM_000138.5(FBN1):c.5960G>C (p.Gly1987Ala) rs2043140093
NM_000138.5(FBN1):c.5965T>A (p.Cys1989Ser) rs2043139988
NM_000138.5(FBN1):c.5965T>G (p.Cys1989Gly) rs2043139988
NM_000138.5(FBN1):c.5967T>G (p.Cys1989Trp) rs1555395652
NM_000138.5(FBN1):c.5971A>C (p.Asn1991His) rs794728243
NM_000138.5(FBN1):c.5971_5972del (p.Asn1991fs)
NM_000138.5(FBN1):c.5976G>C (p.Leu1992Phe)
NM_000138.5(FBN1):c.5978del (p.Asp1993fs) rs2043139896
NM_000138.5(FBN1):c.5980_5981delinsTT (p.Gly1994Leu) rs1597531779
NM_000138.5(FBN1):c.5981G>A (p.Gly1994Glu) rs1484900122
NM_000138.5(FBN1):c.5981G>T (p.Gly1994Val) rs1484900122
NM_000138.5(FBN1):c.5983T>C (p.Ser1995Pro) rs1555395649
NM_000138.5(FBN1):c.5986T>C (p.Tyr1996His)
NM_000138.5(FBN1):c.5989A>C (p.Arg1997=)
NM_000138.5(FBN1):c.5993G>A (p.Cys1998Tyr) rs1085307531
NM_000138.5(FBN1):c.5994C>G (p.Cys1998Trp) rs1555395648
NM_000138.5(FBN1):c.5994C>T (p.Cys1998=) rs1555395648
NM_000138.5(FBN1):c.5995A>G (p.Ile1999Val) rs183690919
NM_000138.5(FBN1):c.5998del (p.Cys2000fs) rs1367820520
NM_000138.5(FBN1):c.5999G>A (p.Cys2000Tyr) rs1555395645
NM_000138.5(FBN1):c.6005C>T (p.Pro2002Leu) rs1566898093
NM_000138.5(FBN1):c.600C>T (p.Ser200=)
NM_000138.5(FBN1):c.6012_6013del (p.Tyr2004_Ser2005delinsTer)
NM_000138.5(FBN1):c.6015T>C (p.Ser2005=)
NM_000138.5(FBN1):c.6023del (p.Asn2008fs) rs1555395640
NM_000138.5(FBN1):c.6029del (p.Lys2010fs) rs2141248004
NM_000138.5(FBN1):c.6030del (p.Lys2010fs)
NM_000138.5(FBN1):c.6031T>C (p.Cys2011Arg) rs2141248001
NM_000138.5(FBN1):c.6032G>A (p.Cys2011Tyr) rs886038967
NM_000138.5(FBN1):c.6034G>T (p.Glu2012Ter) rs2141247988
NM_000138.5(FBN1):c.6036A>G (p.Glu2012=) rs1597531690
NM_000138.5(FBN1):c.6037+10C>T rs2141247970
NM_000138.5(FBN1):c.6037+11_6037+12delinsCT
NM_000138.5(FBN1):c.6037+16G>A
NM_000138.5(FBN1):c.6037+17T>C
NM_000138.5(FBN1):c.6037+2T>C rs2043139226
NM_000138.5(FBN1):c.6038-13G>T rs536742402
NM_000138.5(FBN1):c.6038-14T>C rs369107058
NM_000138.5(FBN1):c.6038-16C>T
NM_000138.5(FBN1):c.6038-1G>A rs1555395489
NM_000138.5(FBN1):c.6038-23_6038-20del
NM_000138.5(FBN1):c.6038-3T>C rs2043117848
NM_000138.5(FBN1):c.6038A>G (p.Asp2013Gly)
NM_000138.5(FBN1):c.6038_6040dup (p.Asp2013_Ile2014insAsn) rs1597529929
NM_000138.5(FBN1):c.603del (p.Ile202fs) rs2141358361
NM_000138.5(FBN1):c.6046G>A (p.Glu2016Lys) rs2141245531
NM_000138.5(FBN1):c.6048G>A (p.Glu2016=) rs991367684
NM_000138.5(FBN1):c.6048_6056del (p.Cys2017_Glu2019del) rs1555395483
NM_000138.5(FBN1):c.6049T>C (p.Cys2017Arg) rs1555395486
NM_000138.5(FBN1):c.6050G>A (p.Cys2017Tyr) rs2141245523
NM_000138.5(FBN1):c.6051T>G (p.Cys2017Trp) rs1566897420
NM_000138.5(FBN1):c.6052_6053del (p.Val2018fs) rs2043117611
NM_000138.5(FBN1):c.6059_6080del (p.Glu2020fs)
NM_000138.5(FBN1):c.6060G>A (p.Glu2020=) rs1597529860
NM_000138.5(FBN1):c.6068_6069insCCCTT (p.Cys2024fs) rs2141245482
NM_000138.5(FBN1):c.6071G>A (p.Cys2024Tyr) rs1597529826
NM_000138.5(FBN1):c.6071G>T (p.Cys2024Phe) rs1597529826
NM_000138.5(FBN1):c.6073G>A (p.Ala2025Thr)
NM_000138.5(FBN1):c.6075C>G (p.Ala2025=) rs1597529820
NM_000138.5(FBN1):c.6082A>C (p.Thr2028Pro)
NM_000138.5(FBN1):c.6084A>G (p.Thr2028=) rs1597529803
NM_000138.5(FBN1):c.6086G>A (p.Cys2029Tyr) rs1057517855
NM_000138.5(FBN1):c.6087C>A (p.Cys2029Ter) rs1555395475
NM_000138.5(FBN1):c.6090dup (p.Asn2031Ter) rs1597529775
NM_000138.5(FBN1):c.609_630del (p.Cys204fs)
NM_000138.5(FBN1):c.6111A>G (p.Lys2037=)
NM_000138.5(FBN1):c.6113del (p.Cys2038fs) rs2141245408
NM_000138.5(FBN1):c.6120T>G (p.Cys2040Trp)
NM_000138.5(FBN1):c.6121_6130del (p.Pro2041fs) rs2043116708
NM_000138.5(FBN1):c.6122C>T (p.Pro2041Leu)
NM_000138.5(FBN1):c.6123A>G (p.Pro2041=)
NM_000138.5(FBN1):c.6126del (p.Ser2045fs)
NM_000138.5(FBN1):c.6129G>T (p.Gly2043=)
NM_000138.5(FBN1):c.6130T>G (p.Phe2044Val) rs2043116688
NM_000138.5(FBN1):c.6139del (p.Ser2047fs) rs2043116624
NM_000138.5(FBN1):c.6140C>T (p.Ser2047Phe) rs1060501046
NM_000138.5(FBN1):c.6141C>T (p.Ser2047=) rs2141245369
NM_000138.5(FBN1):c.6144C>T (p.Ser2048=)
NM_000138.5(FBN1):c.6145del (p.Ser2049fs)
NM_000138.5(FBN1):c.6151A>T (p.Arg2051Ter)
NM_000138.5(FBN1):c.6157T>A (p.Cys2053Ser)
NM_000138.5(FBN1):c.6158G>A (p.Cys2053Tyr) rs363805
NM_000138.5(FBN1):c.6159C>A (p.Cys2053Ter) rs1060501095
NM_000138.5(FBN1):c.6161A>G (p.Gln2054Arg) rs2043116342
NM_000138.5(FBN1):c.6162A>G (p.Gln2054=)
NM_000138.5(FBN1):c.6163+17G>C
NM_000138.5(FBN1):c.6163+1G>A rs1566897374
NM_000138.5(FBN1):c.6163+1_6163+2del
NM_000138.5(FBN1):c.6163+8T>G
NM_000138.5(FBN1):c.6164-1G>A rs1060501048
NM_000138.5(FBN1):c.6164-1G>T
NM_000138.5(FBN1):c.6164-2A>G rs794728244
NM_000138.5(FBN1):c.6164-3_6164-1del rs2043085905
NM_000138.5(FBN1):c.6164-5T>C rs2043085940
NM_000138.5(FBN1):c.6169C>T (p.Arg2057Ter) rs763091520
NM_000138.5(FBN1):c.616A>T (p.Lys206Ter) rs2044026093
NM_000138.5(FBN1):c.6170G>T (p.Arg2057Leu)
NM_000138.5(FBN1):c.6180C>A (p.Tyr2060Ter)
NM_000138.5(FBN1):c.6180C>G (p.Tyr2060Ter) rs974604498
NM_000138.5(FBN1):c.6185A>C (p.Tyr2062Ser) rs1555395266
NM_000138.5(FBN1):c.6188C>T (p.Ala2063Val)
NM_000138.5(FBN1):c.6199G>T (p.Gly2067Ter) rs1342803259
NM_000138.5(FBN1):c.6207G>A (p.Lys2069=) rs1021415072
NM_000138.5(FBN1):c.6208T>C (p.Cys2070Arg)
NM_000138.5(FBN1):c.6209G>A (p.Cys2070Tyr) rs1060501044
NM_000138.5(FBN1):c.6209G>T (p.Cys2070Phe) rs1060501044
NM_000138.5(FBN1):c.6215C>A (p.Ser2072Ter) rs2043085394
NM_000138.5(FBN1):c.6219C>T (p.Pro2073=) rs771786623
NM_000138.5(FBN1):c.621G>A (p.Thr207=) rs765173237
NM_000138.5(FBN1):c.621del (p.Leu208fs) rs2141358303
NM_000138.5(FBN1):c.6235T>C (p.Ser2079Pro)
NM_000138.5(FBN1):c.623T>A (p.Leu208His) rs2044025908
NM_000138.5(FBN1):c.6243G>A (p.Gln2081=)
NM_000138.5(FBN1):c.6244G>T (p.Glu2082Ter) rs1052480459
NM_000138.5(FBN1):c.6249_6254del (p.Cys2084_Cys2085del) rs2141241487
NM_000138.5(FBN1):c.6250T>A (p.Cys2084Ser) rs2141241499
NM_000138.5(FBN1):c.6250_6253dup (p.Cys2085fs)
NM_000138.5(FBN1):c.6253T>G (p.Cys2085Gly) rs2141241496
NM_000138.5(FBN1):c.6266del (p.Gly2089fs) rs1597526729
NM_000138.5(FBN1):c.626G>C (p.Cys209Ser) rs1555401687
NM_000138.5(FBN1):c.626G>T (p.Cys209Phe) rs1555401687
NM_000138.5(FBN1):c.6272G>A (p.Gly2091Asp) rs878853687
NM_000138.5(FBN1):c.6276G>A (p.Trp2092Ter) rs1555395260
NM_000138.5(FBN1):c.6277G>C (p.Gly2093Arg) rs1064793117
NM_000138.5(FBN1):c.6282C>A (p.Asp2094Glu)
NM_000138.5(FBN1):c.6285del (p.Cys2096fs) rs2141241437
NM_000138.5(FBN1):c.6285dup (p.Cys2096fs)
NM_000138.5(FBN1):c.6296G>A (p.Cys2099Tyr) rs1131691803
NM_000138.5(FBN1):c.6297C>G (p.Cys2099Trp)
NM_000138.5(FBN1):c.6303G>A (p.Thr2101=) rs2043084739
NM_000138.5(FBN1):c.6308C>T (p.Pro2103Leu)
NM_000138.5(FBN1):c.6309dup (p.Asp2104Ter) rs2141241409
NM_000138.5(FBN1):c.6313+1G>A rs2141241397
NM_000138.5(FBN1):c.6313+20T>C
NM_000138.5(FBN1):c.6313+3A>G rs1555395256
NM_000138.5(FBN1):c.6313+5G>A rs878853688
NM_000138.5(FBN1):c.6313+9G>A
NM_000138.5(FBN1):c.6313G>A (p.Glu2105Lys) rs794728247
NM_000138.5(FBN1):c.6313G>T (p.Glu2105Ter) rs794728247
NM_000138.5(FBN1):c.6313_6313+1delinsAC
NM_000138.5(FBN1):c.6314-14T>A
NM_000138.5(FBN1):c.6314-14T>G
NM_000138.5(FBN1):c.6314-2A>C rs2141240964
NM_000138.5(FBN1):c.6314-6C>G
NM_000138.5(FBN1):c.6314-6C>T rs2141240971
NM_000138.5(FBN1):c.6314-7_6322del rs2141240946
NM_000138.5(FBN1):c.6314A>T (p.Glu2105Val) rs1165109120
NM_000138.5(FBN1):c.6320T>G (p.Phe2107Cys) rs1555395230
NM_000138.5(FBN1):c.6320dup (p.Arg2108fs) rs2043081795
NM_000138.5(FBN1):c.6322C>T (p.Arg2108Cys) rs1246984265
NM_000138.5(FBN1):c.6322del (p.Arg2108fs) rs2141240943
NM_000138.5(FBN1):c.6325C>T (p.Gln2109Ter) rs1555395229
NM_000138.5(FBN1):c.6327del (p.Ile2110fs) rs1555395228
NM_000138.5(FBN1):c.6331T>G (p.Cys2111Gly) rs363815
NM_000138.5(FBN1):c.6332G>A (p.Cys2111Tyr) rs1131691467
NM_000138.5(FBN1):c.6335C>G (p.Pro2112Arg)
NM_000138.5(FBN1):c.6336T>G (p.Pro2112=) rs772876451
NM_000138.5(FBN1):c.6337T>C (p.Tyr2113His)
NM_000138.5(FBN1):c.6338dup (p.Tyr2113Ter) rs2141240902
NM_000138.5(FBN1):c.6339T>G (p.Tyr2113Ter) rs267606797
NM_000138.5(FBN1):c.6347G>C (p.Gly2116Ala) rs1555395226
NM_000138.5(FBN1):c.6348G>A (p.Gly2116=)
NM_000138.5(FBN1):c.6349A>G (p.Ile2117Val) rs572754741
NM_000138.5(FBN1):c.6350T>A (p.Ile2117Asn) rs769196373
NM_000138.5(FBN1):c.6354C>G (p.Ile2118Met) rs112989722
NM_000138.5(FBN1):c.6355G>A (p.Val2119Met) rs876660976
NM_000138.5(FBN1):c.6359G>T (p.Gly2120Val) rs1310047239
NM_000138.5(FBN1):c.635_636del (p.Thr212fs) rs1566922422
NM_000138.5(FBN1):c.6365A>G (p.Asp2122Gly)
NM_000138.5(FBN1):c.636A>C (p.Thr212=)
NM_000138.5(FBN1):c.6371C>G (p.Ser2124Ter) rs1190410675
NM_000138.5(FBN1):c.6373_6379+1dup
NM_000138.5(FBN1):c.6375A>C (p.Ala2125=) rs2141240830
NM_000138.5(FBN1):c.6375A>G (p.Ala2125=) rs2141240830
NM_000138.5(FBN1):c.6379+11T>A
NM_000138.5(FBN1):c.6379+16T>G
NM_000138.5(FBN1):c.6379+17G>T
NM_000138.5(FBN1):c.6379+1G>A rs397515833
NM_000138.5(FBN1):c.6379+2T>C rs113453570
NM_000138.5(FBN1):c.6379+2T>G rs113453570
NM_000138.5(FBN1):c.6379+3C>G rs2043081154
NM_000138.5(FBN1):c.6379+5G>A rs1085307875
NM_000138.5(FBN1):c.6379+9C>T rs1555395223
NM_000138.5(FBN1):c.6379G>A (p.Asp2127Asn) rs1555395225
NM_000138.5(FBN1):c.6379G>C (p.Asp2127His)
NM_000138.5(FBN1):c.6380-13del rs768078387
NM_000138.5(FBN1):c.6380-20T>C
NM_000138.5(FBN1):c.6380-20dup rs768078387
NM_000138.5(FBN1):c.6380-2A>G rs886041482
NM_000138.5(FBN1):c.6380A>C (p.Asp2127Ala) rs2141240523
NM_000138.5(FBN1):c.6383T>C (p.Met2128Thr) rs2141240519
NM_000138.5(FBN1):c.6386A>T (p.Asp2129Val) rs1566896114
NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys) rs794728334
NM_000138.5(FBN1):c.6391T>A (p.Cys2131Ser) rs1555395210
NM_000138.5(FBN1):c.6392del (p.Cys2131fs) rs2141240489
NM_000138.5(FBN1):c.6393C>G (p.Cys2131Trp) rs61730051
NM_000138.5(FBN1):c.6394A>G (p.Lys2132Glu)
NM_000138.5(FBN1):c.6397_6399del (p.Glu2133del) rs1060501037
NM_000138.5(FBN1):c.63G>A (p.Thr21=) rs2140787726
NM_000138.5(FBN1):c.63G>C (p.Thr21=)
NM_000138.5(FBN1):c.6401C>T (p.Pro2134Leu) rs1566896102
NM_000138.5(FBN1):c.6404A>T (p.Asp2135Val)
NM_000138.5(FBN1):c.640G>A (p.Gly214Ser) rs794728162
NM_000138.5(FBN1):c.6410G>A (p.Cys2137Tyr) rs1555395206
NM_000138.5(FBN1):c.6412_6441del (p.Lys2138_Gly2147del) rs1566896070
NM_000138.5(FBN1):c.6416del (p.His2139fs)
NM_000138.5(FBN1):c.6418G>A (p.Gly2140Arg) rs794728249
NM_000138.5(FBN1):c.6422A>T (p.Gln2141Leu)
NM_000138.5(FBN1):c.6423del (p.Gln2141fs) rs2141240428
NM_000138.5(FBN1):c.6424T>C (p.Cys2142Arg) rs1555395203
NM_000138.5(FBN1):c.6424T>G (p.Cys2142Gly)
NM_000138.5(FBN1):c.6425G>A (p.Cys2142Tyr) rs794728335
NM_000138.5(FBN1):c.6430A>C (p.Asn2144His) rs886038943
NM_000138.5(FBN1):c.6431A>G (p.Asn2144Ser) rs137854461
NM_000138.5(FBN1):c.6434C>T (p.Thr2145Ile) rs2043078019
NM_000138.5(FBN1):c.643C>T (p.Arg215Ter) rs111687884
NM_000138.5(FBN1):c.6440G>A (p.Gly2147Asp) rs1597525958
NM_000138.5(FBN1):c.6440dup (p.Ser2148fs) rs2141240388
NM_000138.5(FBN1):c.6446A>G (p.Tyr2149Cys) rs113080385
NM_000138.5(FBN1):c.6446A>T (p.Tyr2149Phe) rs113080385
NM_000138.5(FBN1):c.6449G>A (p.Arg2150His)
NM_000138.5(FBN1):c.6449G>T (p.Arg2150Leu) rs794728250
NM_000138.5(FBN1):c.6451T>C (p.Cys2151Arg)
NM_000138.5(FBN1):c.6452G>A (p.Cys2151Tyr) rs112464743
NM_000138.5(FBN1):c.6453C>T (p.Cys2151=) rs794728251
NM_000138.5(FBN1):c.645A>T (p.Arg215=) rs200062771
NM_000138.5(FBN1):c.6460C>T (p.Pro2154Ser) rs2043077718
NM_000138.5(FBN1):c.6471T>A (p.Tyr2157Ter) rs1060501034
NM_000138.5(FBN1):c.6487G>T (p.Glu2163Ter) rs1555395191
NM_000138.5(FBN1):c.6490T>G (p.Cys2164Gly) rs2141240296
NM_000138.5(FBN1):c.6491G>A (p.Cys2164Tyr) rs1555395189
NM_000138.5(FBN1):c.6496+10A>C
NM_000138.5(FBN1):c.6496+12G>A rs899879407
NM_000138.5(FBN1):c.6496+1G>A rs1555395188
NM_000138.5(FBN1):c.6496+1G>T rs1555395188
NM_000138.5(FBN1):c.6496G>A (p.Asp2166Asn) rs794728252
NM_000138.5(FBN1):c.6497-13T>C
NM_000138.5(FBN1):c.6497-14_6497-12del
NM_000138.5(FBN1):c.6497-15C>T rs569535886
NM_000138.5(FBN1):c.6497-16_6497-15delinsCA
NM_000138.5(FBN1):c.6497-19C>T
NM_000138.5(FBN1):c.6497-3C>G rs2141237196
NM_000138.5(FBN1):c.6497-4G>A
NM_000138.5(FBN1):c.6497-9T>A
NM_000138.5(FBN1):c.6497A>G (p.Asp2166Gly)
NM_000138.5(FBN1):c.6500_6501insCTGGTTTCT (p.Thr2167_Asp2168insTrpPheLeu)
NM_000138.5(FBN1):c.6501T>C (p.Thr2167=) rs2141237184
NM_000138.5(FBN1):c.6503A>G (p.Asp2168Gly) rs1555395015
NM_000138.5(FBN1):c.6505G>A (p.Glu2169Lys)
NM_000138.5(FBN1):c.6509G>A (p.Cys2170Tyr) rs363821
NM_000138.5(FBN1):c.6512C>T (p.Ser2171Phe) rs1413266501
NM_000138.5(FBN1):c.6514G>A (p.Val2172Ile) rs1243025749
NM_000138.5(FBN1):c.6514G>T (p.Val2172Phe)
NM_000138.5(FBN1):c.6515_6516delinsG (p.Val2172fs) rs397515834
NM_000138.5(FBN1):c.651G>A (p.Trp217Ter)
NM_000138.5(FBN1):c.6523C>A (p.Pro2175Thr) rs2043051465
NM_000138.5(FBN1):c.6524C>T (p.Pro2175Leu) rs2141237135
NM_000138.5(FBN1):c.6527G>A (p.Cys2176Tyr)
NM_000138.5(FBN1):c.6528T>A (p.Cys2176Ter)
NM_000138.5(FBN1):c.6528T>G (p.Cys2176Trp) rs2141237128
NM_000138.5(FBN1):c.653del (p.Gly218fs)
NM_000138.5(FBN1):c.653dup (p.His219fs)
NM_000138.5(FBN1):c.6541del (p.Cys2181fs) rs1060501059
NM_000138.5(FBN1):c.6549T>A (p.Asn2183Lys) rs752192006
NM_000138.5(FBN1):c.6549T>C (p.Asn2183=)
NM_000138.5(FBN1):c.654C>T (p.Gly218=)
NM_000138.5(FBN1):c.6550_6553del (p.Val2184fs) rs2141237105
NM_000138.5(FBN1):c.6554T>C (p.Ile2185Thr) rs910656654
NM_000138.5(FBN1):c.6554T>G (p.Ile2185Ser) rs910656654
NM_000138.5(FBN1):c.6564_6565insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCGATTGGAGGTTTT (p.Glu2189delinsPhePhePhePhePhePheXaaXaaXaaXaaValSerProPheTer)
NM_000138.5(FBN1):c.6568T>A (p.Cys2190Ser) rs1566895263
NM_000138.5(FBN1):c.6568T>C (p.Cys2190Arg)
NM_000138.5(FBN1):c.6568T>G (p.Cys2190Gly)
NM_000138.5(FBN1):c.6575G>A (p.Cys2192Tyr) rs2043050838
NM_000138.5(FBN1):c.6576C>A (p.Cys2192Ter)
NM_000138.5(FBN1):c.6576C>G (p.Cys2192Trp) rs369058466
NM_000138.5(FBN1):c.657C>A (p.His219Gln)
NM_000138.5(FBN1):c.6582G>A (p.Glu2194=)
NM_000138.5(FBN1):c.6583G>A (p.Gly2195Arg) rs886038976
NM_000138.5(FBN1):c.6583G>T (p.Gly2195Ter) rs886038976
NM_000138.5(FBN1):c.6584G>T (p.Gly2195Val) rs1597523768
NM_000138.5(FBN1):c.6586T>G (p.Phe2196Val) rs2043050574
NM_000138.5(FBN1):c.658C>T (p.Pro220Ser)
NM_000138.5(FBN1):c.6590A>C (p.Glu2197Ala) rs763165301
NM_000138.5(FBN1):c.6591G>A (p.Glu2197=)
NM_000138.5(FBN1):c.6591G>T (p.Glu2197Asp) rs2141237031
NM_000138.5(FBN1):c.6600A>G (p.Pro2200=)
NM_000138.5(FBN1):c.6601A>C (p.Met2201Leu) rs776823384
NM_000138.5(FBN1):c.6605T>C (p.Met2202Thr)
NM_000138.5(FBN1):c.6609_6610del (p.Thr2203_Cys2204insTer) rs1555395002
NM_000138.5(FBN1):c.660_661del (p.Pro220_Cys221insTer) rs1555401679
NM_000138.5(FBN1):c.660dup (p.Cys221fs)
NM_000138.5(FBN1):c.6610T>C (p.Cys2204Arg) rs1555395001
NM_000138.5(FBN1):c.6611G>C (p.Cys2204Ser)
NM_000138.5(FBN1):c.6615A>G (p.Glu2205=)
NM_000138.5(FBN1):c.6616+17G>C
NM_000138.5(FBN1):c.6616+1G>A rs1064793980
NM_000138.5(FBN1):c.6616+1G>C rs1064793980
NM_000138.5(FBN1):c.6616+2T>C rs2141236949
NM_000138.5(FBN1):c.6616+4C>T
NM_000138.5(FBN1):c.6616+7C>G rs778659143
NM_000138.5(FBN1):c.6617-11_6617-9del rs2141235287
NM_000138.5(FBN1):c.6617-12C>T
NM_000138.5(FBN1):c.6617-12_6630del
NM_000138.5(FBN1):c.6617-17A>T
NM_000138.5(FBN1):c.6617-1G>C rs2141235271
NM_000138.5(FBN1):c.6617-1G>T
NM_000138.5(FBN1):c.6617-2A>C rs1597522588
NM_000138.5(FBN1):c.6617-2A>G
NM_000138.5(FBN1):c.6617-7G>C
NM_000138.5(FBN1):c.6617A>G (p.Asp2206Gly) rs1597522584
NM_000138.5(FBN1):c.6617A>T (p.Asp2206Val) rs1597522584
NM_000138.5(FBN1):c.661del (p.Cys221fs) rs1597593695
NM_000138.5(FBN1):c.6623_6627del (p.Asn2208fs) rs1597522572
NM_000138.5(FBN1):c.6623dup (p.Asn2208fs)
NM_000138.5(FBN1):c.6626A>C (p.Glu2209Ala) rs1060501072
NM_000138.5(FBN1):c.6629G>A (p.Cys2210Tyr) rs2141235242
NM_000138.5(FBN1):c.6629_6639dup (p.Pro2214fs)
NM_000138.5(FBN1):c.6631G>T (p.Ala2211Ser) rs1407213479
NM_000138.5(FBN1):c.6634C>T (p.Gln2212Ter) rs1597522553
NM_000138.5(FBN1):c.6636G>A (p.Gln2212=) rs2141235218
NM_000138.5(FBN1):c.663_664del (p.Cys221_Glu222delinsTer) rs2044025276
NM_000138.5(FBN1):c.6640C>G (p.Pro2214Ala) rs1375370990
NM_000138.5(FBN1):c.6643C>A (p.Leu2215Met) rs921997271
NM_000138.5(FBN1):c.6643C>T (p.Leu2215=) rs921997271
NM_000138.5(FBN1):c.6645del (p.Leu2216fs) rs1555394928
NM_000138.5(FBN1):c.6648C>A (p.Leu2216=) rs755861623
NM_000138.5(FBN1):c.6648C>G (p.Leu2216=)
NM_000138.5(FBN1):c.6650G>A (p.Cys2217Tyr) rs794728254
NM_000138.5(FBN1):c.6650G>C (p.Cys2217Ser)
NM_000138.5(FBN1):c.6655T>G (p.Phe2219Val) rs2043035646
NM_000138.5(FBN1):c.6658C>T (p.Arg2220Ter) rs113001196
NM_000138.5(FBN1):c.6659G>C (p.Arg2220Pro) rs780651466
NM_000138.5(FBN1):c.6661T>C (p.Cys2221Arg) rs113543334
NM_000138.5(FBN1):c.6661T>G (p.Cys2221Gly)
NM_000138.5(FBN1):c.6662G>A (p.Cys2221Tyr) rs137854460
NM_000138.5(FBN1):c.6663T>G (p.Cys2221Trp) rs2141235147
NM_000138.5(FBN1):c.6664G>C (p.Val2222Leu) rs1555394920
NM_000138.5(FBN1):c.6670_6671del (p.Thr2224fs) rs1597522485
NM_000138.5(FBN1):c.6673del (p.Tyr2225fs) rs2141235124
NM_000138.5(FBN1):c.6675T>G (p.Tyr2225Ter) rs1260533788
NM_000138.5(FBN1):c.6676G>A (p.Gly2226Arg) rs2141235108
NM_000138.5(FBN1):c.6677G>A (p.Gly2226Glu)
NM_000138.5(FBN1):c.6677G>T (p.Gly2226Val)
NM_000138.5(FBN1):c.6678del (p.Ser2227fs) rs2141235101
NM_000138.5(FBN1):c.6679T>C (p.Ser2227Pro) rs1555394915
NM_000138.5(FBN1):c.6681A>G (p.Ser2227=)
NM_000138.5(FBN1):c.6681A>T (p.Ser2227=) rs363824
NM_000138.5(FBN1):c.6683A>G (p.Tyr2228Cys) rs1555394908
NM_000138.5(FBN1):c.6687A>G (p.Glu2229=)
NM_000138.5(FBN1):c.6689G>A (p.Cys2230Tyr) rs1555394904
NM_000138.5(FBN1):c.6694T>G (p.Cys2232Gly)
NM_000138.5(FBN1):c.6695G>A (p.Cys2232Tyr) rs1060501054
NM_000138.5(FBN1):c.6697C>T (p.Pro2233Ser) rs794728255
NM_000138.5(FBN1):c.6698C>A (p.Pro2233His) rs1566894783
NM_000138.5(FBN1):c.6698C>T (p.Pro2233Leu) rs1566894783
NM_000138.5(FBN1):c.6699del (p.Val2234fs) rs1597522415
NM_000138.5(FBN1):c.669G>A (p.Met223Ile) rs910928261
NM_000138.5(FBN1):c.6705A>G (p.Gly2235=)
NM_000138.5(FBN1):c.6707A>T (p.Tyr2236Phe) rs368439899
NM_000138.5(FBN1):c.670del (p.Cys224fs)
NM_000138.5(FBN1):c.6711G>A (p.Val2237=)
NM_000138.5(FBN1):c.6711G>T (p.Val2237=) rs760867972
NM_000138.5(FBN1):c.6718G>T (p.Glu2240Ter)
NM_000138.5(FBN1):c.6718_6719del (p.Glu2240fs) rs2043034865
NM_000138.5(FBN1):c.671G>A (p.Cys224Tyr) rs1566922396
NM_000138.5(FBN1):c.6721G>C (p.Asp2241His)
NM_000138.5(FBN1):c.6728_6737del (p.Arg2243fs) rs2141234945
NM_000138.5(FBN1):c.6730A>T (p.Met2244Leu)
NM_000138.5(FBN1):c.6734G>A (p.Cys2245Tyr) rs2043034575
NM_000138.5(FBN1):c.6735C>A (p.Cys2245Ter) rs2043034543
NM_000138.5(FBN1):c.6739+11G>A
NM_000138.5(FBN1):c.6739+13G>A
NM_000138.5(FBN1):c.6739+16C>T
NM_000138.5(FBN1):c.6739+1G>A rs869025419
NM_000138.5(FBN1):c.6739+1G>T
NM_000138.5(FBN1):c.6739+2T>A rs730880107
NM_000138.5(FBN1):c.6739+3G>A
NM_000138.5(FBN1):c.6739+4A>G
NM_000138.5(FBN1):c.673C>T (p.Pro225Ser) rs2044025163
NM_000138.5(FBN1):c.6740-10T>A rs1456822662
NM_000138.5(FBN1):c.6740-10T>G rs1456822662
NM_000138.5(FBN1):c.6740-11A>T
NM_000138.5(FBN1):c.6740-13A>C
NM_000138.5(FBN1):c.6740-17T>C
NM_000138.5(FBN1):c.6740-19G>C
NM_000138.5(FBN1):c.6740-1G>C
NM_000138.5(FBN1):c.6740-21_6740-18delinsTTTTGTCATTTTTTGTACATTTTTGTCATTTT
NM_000138.5(FBN1):c.6740-2A>G rs2141232714
NM_000138.5(FBN1):c.6740-2del rs1555394783
NM_000138.5(FBN1):c.6740-3C>G rs1566894334
NM_000138.5(FBN1):c.6740A>G (p.Asp2247Gly) rs1060501032
NM_000138.5(FBN1):c.6746A>G (p.Asp2249Gly) rs397515838
NM_000138.5(FBN1):c.6748G>A (p.Glu2250Lys) rs1597520789
NM_000138.5(FBN1):c.6750G>A (p.Glu2250=) rs887646369
NM_000138.5(FBN1):c.6751T>A (p.Cys2251Ser) rs112836174
NM_000138.5(FBN1):c.6751T>C (p.Cys2251Arg) rs112836174
NM_000138.5(FBN1):c.6752G>A (p.Cys2251Tyr) rs794728256
NM_000138.5(FBN1):c.6752G>T (p.Cys2251Phe) rs794728256
NM_000138.5(FBN1):c.6753T>G (p.Cys2251Trp)
NM_000138.5(FBN1):c.6757G>A (p.Glu2253Lys) rs1245476075
NM_000138.5(FBN1):c.6757G>T (p.Glu2253Ter) rs1245476075
NM_000138.5(FBN1):c.6769_6773del (p.Asp2257fs) rs2141232639
NM_000138.5(FBN1):c.6772T>C (p.Cys2258Arg) rs1057520617
NM_000138.5(FBN1):c.6773G>C (p.Cys2258Ser)
NM_000138.5(FBN1):c.6773_6774del (p.Cys2258fs) rs1555394777
NM_000138.5(FBN1):c.6780_6783del (p.Glu2260fs)
NM_000138.5(FBN1):c.6783_6784insT (p.Gln2262fs) rs2043017815
NM_000138.5(FBN1):c.6784C>T (p.Gln2262Ter) rs1060501023
NM_000138.5(FBN1):c.6786A>G (p.Gln2262=)
NM_000138.5(FBN1):c.6790G>T (p.Glu2264Ter)
NM_000138.5(FBN1):c.6793T>A (p.Cys2265Ser) rs1057522272
NM_000138.5(FBN1):c.6793T>G (p.Cys2265Gly) rs1057522272
NM_000138.5(FBN1):c.6794G>A (p.Cys2265Tyr) rs1057520679
NM_000138.5(FBN1):c.679C>T (p.Gln227Ter) rs2044025100
NM_000138.5(FBN1):c.6800del (p.Asn2267fs) rs1566894288
NM_000138.5(FBN1):c.6801C>G (p.Asn2267Lys) rs886051245
NM_000138.5(FBN1):c.6801C>T (p.Asn2267=) rs886051245
NM_000138.5(FBN1):c.6804C>T (p.Leu2268=)
NM_000138.5(FBN1):c.6806T>A (p.Ile2269Asn) rs193922228
NM_000138.5(FBN1):c.6808G>T (p.Gly2270Cys) rs1060501025
NM_000138.5(FBN1):c.6809G>T (p.Gly2270Val) rs1566894274
NM_000138.5(FBN1):c.6815A>G (p.Tyr2272Cys) rs2141232534
NM_000138.5(FBN1):c.6817A>G (p.Met2273Val)
NM_000138.5(FBN1):c.681G>A (p.Gln227=) rs2141358095
NM_000138.5(FBN1):c.6820T>C (p.Cys2274Arg) rs869025412
NM_000138.5(FBN1):c.6826T>G (p.Cys2276Gly) rs2043017257
NM_000138.5(FBN1):c.682C>T (p.Pro228Ser)
NM_000138.5(FBN1):c.6832C>G (p.Pro2278Ala) rs363835
NM_000138.5(FBN1):c.6832C>T (p.Pro2278Ser) rs363835
NM_000138.5(FBN1):c.6836G>T (p.Gly2279Val) rs2043017049
NM_000138.5(FBN1):c.6837G>C (p.Gly2279=)
NM_000138.5(FBN1):c.6837del (p.Tyr2280fs) rs2043017030
NM_000138.5(FBN1):c.6838dup (p.Tyr2280fs)
NM_000138.5(FBN1):c.6839A>G (p.Tyr2280Cys)
NM_000138.5(FBN1):c.6854A>G (p.Asp2285Gly) rs1160071679
NM_000138.5(FBN1):c.6857G>A (p.Gly2286Glu) rs1455580241
NM_000138.5(FBN1):c.6858A>G (p.Gly2286=)
NM_000138.5(FBN1):c.6859G>A (p.Glu2287Lys) rs551736585
NM_000138.5(FBN1):c.6862G>A (p.Gly2288Ser)
NM_000138.5(FBN1):c.6865T>A (p.Cys2289Ser)
NM_000138.5(FBN1):c.6866G>A (p.Cys2289Tyr) rs1566894230
NM_000138.5(FBN1):c.6869del (p.Val2290fs) rs2141232407
NM_000138.5(FBN1):c.6871+10T>C rs745421627
NM_000138.5(FBN1):c.6871+16T>C
NM_000138.5(FBN1):c.6871+1G>A rs1555394753
NM_000138.5(FBN1):c.6871+1G>T rs1555394753
NM_000138.5(FBN1):c.6871+3A>T rs1555394752
NM_000138.5(FBN1):c.6871+7G>C rs1597520513
NM_000138.5(FBN1):c.6871+8G>C
NM_000138.5(FBN1):c.6871+8G>T
NM_000138.5(FBN1):c.6871+9A>G
NM_000138.5(FBN1):c.6872-14A>G rs1064793119
NM_000138.5(FBN1):c.6872-1G>T rs1597518951
NM_000138.5(FBN1):c.6872-1_6881dup rs2042999380
NM_000138.5(FBN1):c.6872-3C>G rs2042999551
NM_000138.5(FBN1):c.6872-7C>T
NM_000138.5(FBN1):c.6872-961A>G rs1597519658
NM_000138.5(FBN1):c.6872-961A>T
NM_000138.5(FBN1):c.6872-9A>G rs794728259
NM_000138.5(FBN1):c.6872A>G (p.Asp2291Gly) rs370283154
NM_000138.5(FBN1):c.6879T>G (p.Asn2293Lys)
NM_000138.5(FBN1):c.687C>T (p.His229=) rs1391600366
NM_000138.5(FBN1):c.6880G>A (p.Glu2294Lys)
NM_000138.5(FBN1):c.6883T>C (p.Cys2295Arg) rs1555394644
NM_000138.5(FBN1):c.6883T>G (p.Cys2295Gly) rs1555394644
NM_000138.5(FBN1):c.6884G>A (p.Cys2295Tyr) rs886038949
NM_000138.5(FBN1):c.6888G>T (p.Gln2296His) rs363830
NM_000138.5(FBN1):c.6890C>G (p.Thr2297Arg)
NM_000138.5(FBN1):c.6896del (p.Pro2299fs) rs2141230021
NM_000138.5(FBN1):c.6900G>A (p.Gly2300=)
NM_000138.5(FBN1):c.6901A>T (p.Ile2301Phe)
NM_000138.5(FBN1):c.6905G>A (p.Cys2302Tyr) rs2042998789
NM_000138.5(FBN1):c.6906T>G (p.Cys2302Trp) rs1555394634
NM_000138.5(FBN1):c.6906_6907del (p.Cys2302_Glu2303delinsTer) rs2141229990
NM_000138.5(FBN1):c.6911A>C (p.Asn2304Thr)
NM_000138.5(FBN1):c.6915G>C (p.Gly2305=)
NM_000138.5(FBN1):c.6919T>C (p.Cys2307Arg)
NM_000138.5(FBN1):c.691del (p.Cys231fs)
NM_000138.5(FBN1):c.6925A>T (p.Asn2309Tyr) rs2141229967
NM_000138.5(FBN1):c.6931del (p.Arg2311fs) rs2141229950
NM_000138.5(FBN1):c.6938G>T (p.Ser2313Ile)
NM_000138.5(FBN1):c.6940_6943dup (p.Thr2315fs) rs1566893738
NM_000138.5(FBN1):c.6947G>T (p.Cys2316Phe) rs1555394629
NM_000138.5(FBN1):c.6948T>A (p.Cys2316Ter) rs1060501016
NM_000138.5(FBN1):c.694C>T (p.Arg232Cys)
NM_000138.5(FBN1):c.6952T>C (p.Cys2318Arg) rs111588631
NM_000138.5(FBN1):c.6954T>C (p.Cys2318=)
NM_000138.5(FBN1):c.6954dup (p.Asn2319Ter) rs1597518796
NM_000138.5(FBN1):c.6959A>G (p.Asp2320Gly) rs794728261
NM_000138.5(FBN1):c.6959A>T (p.Asp2320Val) rs794728261
NM_000138.5(FBN1):c.6963del (p.Phe2322fs) rs1060501051
NM_000138.5(FBN1):c.6966del (p.Phe2322fs) rs1555394623
NM_000138.5(FBN1):c.6972C>G (p.Ala2324=) rs1597518738
NM_000138.5(FBN1):c.697C>A (p.Arg233Ser) rs397515841
NM_000138.5(FBN1):c.697C>T (p.Arg233Cys) rs397515841
NM_000138.5(FBN1):c.6987C>T (p.Asp2329=) rs363831
NM_000138.5(FBN1):c.6992G>T (p.Cys2331Phe) rs397515842
NM_000138.5(FBN1):c.6993C>A (p.Cys2331Ter) rs534811966
NM_000138.5(FBN1):c.6994C>T (p.Leu2332Phe)
NM_000138.5(FBN1):c.6996del (p.Asp2333fs) rs2141229819
NM_000138.5(FBN1):c.6997+10G>A
NM_000138.5(FBN1):c.6997+17_6997+18delinsGA
NM_000138.5(FBN1):c.6997+17_6997+18delinsGT rs2141229764
NM_000138.5(FBN1):c.6997+18C>T rs148116316
NM_000138.5(FBN1):c.6997+19G>A rs767445722
NM_000138.5(FBN1):c.6997+1G>A rs2042997306
NM_000138.5(FBN1):c.6997+1G>C rs2042997306
NM_000138.5(FBN1):c.6997+20C>T
NM_000138.5(FBN1):c.6997+4A>G rs727503055
NM_000138.5(FBN1):c.6997+5G>A rs2042997205
NM_000138.5(FBN1):c.6997+5G>T rs2042997205
NM_000138.5(FBN1):c.6997+5dup
NM_000138.5(FBN1):c.6997+7A>G
NM_000138.5(FBN1):c.6997+8C>T
NM_000138.5(FBN1):c.6998-13A>G rs2042989627
NM_000138.5(FBN1):c.6998-17T>C
NM_000138.5(FBN1):c.6998-1G>A
NM_000138.5(FBN1):c.6998-22_6998-5del
NM_000138.5(FBN1):c.6998-2A>T rs1555394585
NM_000138.5(FBN1):c.6998-40del rs193922229
NM_000138.5(FBN1):c.69T>C (p.His23=) rs2140787712
NM_000138.5(FBN1):c.7003C>A (p.Arg2335=)
NM_000138.5(FBN1):c.7003C>G (p.Arg2335Gly) rs794728262
NM_000138.5(FBN1):c.7003C>T (p.Arg2335Trp) rs794728262
NM_000138.5(FBN1):c.7004G>A (p.Arg2335Gln) rs761248433
NM_000138.5(FBN1):c.700G>T (p.Gly234Cys)
NM_000138.5(FBN1):c.7010G>C (p.Gly2337Ala)
NM_000138.5(FBN1):c.7013A>G (p.Tyr2338Cys) rs2141229151
NM_000138.5(FBN1):c.7014C>T (p.Tyr2338=) rs1555394582
NM_000138.5(FBN1):c.7016_7020dup (p.Thr2341fs) rs2141229138
NM_000138.5(FBN1):c.701G>A (p.Gly234Asp) rs1555401670
NM_000138.5(FBN1):c.7022_7039del (p.Thr2341_Asn2346del)
NM_000138.5(FBN1):c.7027G>T (p.Val2343Leu)
NM_000138.5(FBN1):c.702C>T (p.Gly234=)
NM_000138.5(FBN1):c.7032A>G (p.Leu2344=) rs2141229116
NM_000138.5(FBN1):c.7032_7054del (p.Asn2346fs) rs1597518038
NM_000138.5(FBN1):c.7037del (p.Asn2346fs)
NM_000138.5(FBN1):c.7039A>T (p.Met2347Leu) rs1284375434
NM_000138.5(FBN1):c.7039_7040del (p.Met2347fs) rs794728319
NM_000138.5(FBN1):c.7043_7044del (p.Cys2348fs) rs2141229101
NM_000138.5(FBN1):c.7048A>G (p.Ile2350Val) rs794728263
NM_000138.5(FBN1):c.7050C>T (p.Ile2350=) rs772287755
NM_000138.5(FBN1):c.7051G>C (p.Gly2351Arg)
NM_000138.5(FBN1):c.7054del (p.Ser2352fs)
NM_000138.5(FBN1):c.7064G>A (p.Arg2355Lys) rs376372763
NM_000138.5(FBN1):c.7074C>T (p.Val2358=)
NM_000138.5(FBN1):c.7078A>C (p.Lys2360Gln)
NM_000138.5(FBN1):c.7080dup (p.Ser2361fs) rs1597517970
NM_000138.5(FBN1):c.7082C>A (p.Ser2361Ter) rs397515844
NM_000138.5(FBN1):c.7082C>G (p.Ser2361Trp) rs397515844
NM_000138.5(FBN1):c.7088G>T (p.Cys2363Phe) rs2042988482
NM_000138.5(FBN1):c.7089CTG[1] (p.Cys2365del)
NM_000138.5(FBN1):c.7091G>C (p.Cys2364Ser)
NM_000138.5(FBN1):c.7092C>A (p.Cys2364Ter) rs1555394569
NM_000138.5(FBN1):c.7096G>A (p.Asp2366Asn) rs1259235311
NM_000138.5(FBN1):c.7109G>A (p.Gly2370Asp)
NM_000138.5(FBN1):c.710del (p.Pro237fs)
NM_000138.5(FBN1):c.7111T>C (p.Trp2371Arg) rs794728264
NM_000138.5(FBN1):c.7112G>A (p.Trp2371Ter) rs1555394567
NM_000138.5(FBN1):c.7113G>A (p.Trp2371Ter) rs886039063
NM_000138.5(FBN1):c.7114G>A (p.Gly2372Ser) rs2042988137
NM_000138.5(FBN1):c.7115G>T (p.Gly2372Val) rs112369155
NM_000138.5(FBN1):c.7117C>T (p.Pro2373Ser)
NM_000138.5(FBN1):c.7119_7120insGGAC (p.His2374fs) rs1597517858
NM_000138.5(FBN1):c.7121A>G (p.His2374Arg) rs1060501018
NM_000138.5(FBN1):c.7125T>A (p.Cys2375Ter) rs794728265
NM_000138.5(FBN1):c.7129A>G (p.Ile2377Val)
NM_000138.5(FBN1):c.7134C>G (p.Cys2378Trp) rs1555394562
NM_000138.5(FBN1):c.7139dup (p.Gln2381fs) rs1555394561
NM_000138.5(FBN1):c.7141C>T (p.Gln2381Ter) rs869025414
NM_000138.5(FBN1):c.7146G>T (p.Gly2382=)
NM_000138.5(FBN1):c.7149T>A (p.Thr2383=)
NM_000138.5(FBN1):c.7149T>G (p.Thr2383=)
NM_000138.5(FBN1):c.7154C>T (p.Ala2385Val)
NM_000138.5(FBN1):c.7162A>G (p.Lys2388Glu) rs1566893398
NM_000138.5(FBN1):c.7167_7168del (p.Cys2390fs) rs397515846
NM_000138.5(FBN1):c.7168T>A (p.Cys2390Ser) rs397515847
NM_000138.5(FBN1):c.7168T>C (p.Cys2390Arg) rs397515847
NM_000138.5(FBN1):c.7169G>A (p.Cys2390Tyr) rs864622754
NM_000138.5(FBN1):c.716T>C (p.Ile239Thr)
NM_000138.5(FBN1):c.7172C>G (p.Pro2391Arg)
NM_000138.5(FBN1):c.7175A>G (p.His2392Arg)
NM_000138.5(FBN1):c.7176T>C (p.His2392=)
NM_000138.5(FBN1):c.7178G>C (p.Gly2393Ala)
NM_000138.5(FBN1):c.7178dup (p.Arg2394fs) rs1597517771
NM_000138.5(FBN1):c.7180C>T (p.Arg2394Ter) rs397515848
NM_000138.5(FBN1):c.7184G>A (p.Gly2395Glu)
NM_000138.5(FBN1):c.7184G>T (p.Gly2395Val) rs397515849
NM_000138.5(FBN1):c.718C>T (p.Arg240Cys) rs137854480
NM_000138.5(FBN1):c.7193C>T (p.Thr2398Ile) rs1169351376
NM_000138.5(FBN1):c.719G>A (p.Arg240His) rs768744583
NM_000138.5(FBN1):c.71G>C (p.Gly24Ala) rs768993489
NM_000138.5(FBN1):c.7201G>T (p.Ala2401Ser) rs771260695
NM_000138.5(FBN1):c.7204+15G>A
NM_000138.5(FBN1):c.7204+1G>A rs1555394557
NM_000138.5(FBN1):c.7204+1G>T rs1555394557
NM_000138.5(FBN1):c.7204+20A>G
NM_000138.5(FBN1):c.7204+3A>G rs1057518076
NM_000138.5(FBN1):c.7204+3A>T
NM_000138.5(FBN1):c.7205-10T>A
NM_000138.5(FBN1):c.7205-18A>G rs1555394451
NM_000138.5(FBN1):c.7205-18A>T
NM_000138.5(FBN1):c.7205-1G>A rs794728266
NM_000138.5(FBN1):c.7205-1G>C rs794728266
NM_000138.5(FBN1):c.7205-2A>G rs1555394450
NM_000138.5(FBN1):c.7212T>C (p.Asp2404=) rs2141227085
NM_000138.5(FBN1):c.7216T>C (p.Cys2406Arg) rs2042976167
NM_000138.5(FBN1):c.7217G>A (p.Cys2406Tyr) rs1131691479
NM_000138.5(FBN1):c.7221_7225del (p.Lys2407fs) rs1597516509
NM_000138.5(FBN1):c.7227T>A (p.Ile2409=)
NM_000138.5(FBN1):c.7228_7232dup (p.Val2412fs) rs1555394445
NM_000138.5(FBN1):c.7235T>C (p.Val2412Ala) rs1060501061
NM_000138.5(FBN1):c.7236T>C (p.Val2412=) rs1306021418
NM_000138.5(FBN1):c.7238G>A (p.Cys2413Tyr) rs1566892915
NM_000138.5(FBN1):c.7238G>C (p.Cys2413Ser) rs1566892915
NM_000138.5(FBN1):c.7239C>T (p.Cys2413=) rs2042975041
NM_000138.5(FBN1):c.723G>A (p.Thr241=) rs757264206
NM_000138.5(FBN1):c.7240C>T (p.Arg2414Ter) rs112550005
NM_000138.5(FBN1):c.7242A>C (p.Arg2414=)
NM_000138.5(FBN1):c.7244A>T (p.Asn2415Ile) rs1566892910
NM_000138.5(FBN1):c.7244_7251del (p.Asn2415fs)
NM_000138.5(FBN1):c.7245del (p.Asn2415fs) rs2141227006
NM_000138.5(FBN1):c.7246G>A (p.Gly2416Arg) rs794728269
NM_000138.5(FBN1):c.7249G>T (p.Glu2417Ter) rs2042974889
NM_000138.5(FBN1):c.7251dup (p.Cys2418fs) rs1566892906
NM_000138.5(FBN1):c.7253G>A (p.Cys2418Tyr) rs794728270
NM_000138.5(FBN1):c.7258A>C (p.Asn2420His)
NM_000138.5(FBN1):c.7259A>G (p.Asn2420Ser) rs2141226971
NM_000138.5(FBN1):c.726A>T (p.Gly242=)
NM_000138.5(FBN1):c.7271C>A (p.Ser2424Ter)
NM_000138.5(FBN1):c.7275T>C (p.Tyr2425=)
NM_000138.5(FBN1):c.7276C>T (p.His2426Tyr) rs372369490
NM_000138.5(FBN1):c.7276_7278del (p.His2426del) rs2141226930
NM_000138.5(FBN1):c.7276_7283del (p.His2426fs)
NM_000138.5(FBN1):c.7279T>C (p.Cys2427Arg) rs1566892883
NM_000138.5(FBN1):c.7286G>A (p.Cys2429Tyr) rs2141226916
NM_000138.5(FBN1):c.7286G>T (p.Cys2429Phe) rs2141226916
NM_000138.5(FBN1):c.7287del (p.Ile2428_Cys2429insTer) rs2042974444
NM_000138.5(FBN1):c.7295G>C (p.Gly2432Ala) rs1266993955
NM_000138.5(FBN1):c.7298A>G (p.Tyr2433Cys) rs1555394437
NM_000138.5(FBN1):c.7305A>G (p.Pro2435=) rs2042974267
NM_000138.5(FBN1):c.7309A>G (p.Ile2437Val)
NM_000138.5(FBN1):c.7314del (p.Thr2440fs) rs2141226866
NM_000138.5(FBN1):c.7317G>A (p.Gly2439=) rs766871786
NM_000138.5(FBN1):c.7324T>A (p.Cys2442Ser) rs1555394435
NM_000138.5(FBN1):c.7325G>A (p.Cys2442Tyr) rs1597516347
NM_000138.5(FBN1):c.7327G>A (p.Val2443Ile)
NM_000138.5(FBN1):c.7328T>C (p.Val2443Ala) rs2141226842
NM_000138.5(FBN1):c.732T>A (p.Cys244Ter) rs878853689
NM_000138.5(FBN1):c.7330+11A>G
NM_000138.5(FBN1):c.7330+17G>A
NM_000138.5(FBN1):c.7330+1G>T
NM_000138.5(FBN1):c.7330+3A>G rs2042974020
NM_000138.5(FBN1):c.7330G>T (p.Asp2444Tyr) rs1555394434
NM_000138.5(FBN1):c.7331-16A>G
NM_000138.5(FBN1):c.7331-17T>C rs2141226524
NM_000138.5(FBN1):c.7331-1G>A
NM_000138.5(FBN1):c.7331-1_7343dup rs2042971987
NM_000138.5(FBN1):c.7331-2A>G
NM_000138.5(FBN1):c.7331A>G (p.Asp2444Gly) rs1060501093
NM_000138.5(FBN1):c.7335G>A (p.Leu2445=)
NM_000138.5(FBN1):c.7339G>C (p.Glu2447Gln)
NM_000138.5(FBN1):c.7341G>A (p.Glu2447=) rs1437889689
NM_000138.5(FBN1):c.7342T>C (p.Cys2448Arg) rs1566892757
NM_000138.5(FBN1):c.7347_7358del (p.Asn2449_Pro2452del) rs2042971876
NM_000138.5(FBN1):c.734A>C (p.Gln245Pro)
NM_000138.5(FBN1):c.736+17G>A rs540588651
NM_000138.5(FBN1):c.7364G>A (p.Cys2455Tyr) rs1555394409
NM_000138.5(FBN1):c.7365C>G (p.Cys2455Trp) rs1555394408
NM_000138.5(FBN1):c.737-17C>G
NM_000138.5(FBN1):c.737-17_740del rs1597591735
NM_000138.5(FBN1):c.737-19G>C
NM_000138.5(FBN1):c.737-19_737-16del rs748812494
NM_000138.5(FBN1):c.737-23_737-20del
NM_000138.5(FBN1):c.737-25CT[2] rs72041020
NM_000138.5(FBN1):c.737-9A>G rs1060501020
NM_000138.5(FBN1):c.7371dup (p.Ile2458fs) rs1555394407
NM_000138.5(FBN1):c.7372A>G (p.Ile2458Val)
NM_000138.5(FBN1):c.7376G>A (p.Cys2459Tyr) rs1555394406
NM_000138.5(FBN1):c.7376G>T (p.Cys2459Phe) rs1555394406
NM_000138.5(FBN1):c.7382A>G (p.Asn2461Ser) rs1555394405
NM_000138.5(FBN1):c.7382dup (p.Asn2461fs) rs2141226412
NM_000138.5(FBN1):c.7383C>G (p.Asn2461Lys) rs754047254
NM_000138.5(FBN1):c.7384A>C (p.Thr2462Pro) rs371278936
NM_000138.5(FBN1):c.7384A>G (p.Thr2462Ala) rs371278936
NM_000138.5(FBN1):c.7387G>T (p.Glu2463Ter) rs1566892735
NM_000138.5(FBN1):c.7394G>T (p.Ser2465Ile) rs2141226387
NM_000138.5(FBN1):c.7397A>G (p.Tyr2466Cys) rs1555394403
NM_000138.5(FBN1):c.7398C>A (p.Tyr2466Ter) rs1555394402
NM_000138.5(FBN1):c.7398C>G (p.Tyr2466Ter) rs1555394402
NM_000138.5(FBN1):c.7399C>T (p.Gln2467Ter) rs1566892727
NM_000138.5(FBN1):c.73G>T (p.Ala25Ser)
NM_000138.5(FBN1):c.7400A>C (p.Gln2467Pro) rs770839761
NM_000138.5(FBN1):c.7402T>C (p.Cys2468Arg) rs1085308004
NM_000138.5(FBN1):c.7403G>A (p.Cys2468Tyr) rs1555394400
NM_000138.5(FBN1):c.7406C>A (p.Ser2469Ter)
NM_000138.5(FBN1):c.7407A>G (p.Ser2469=) rs193922232
NM_000138.5(FBN1):c.7408T>A (p.Cys2470Ser) rs1555394399
NM_000138.5(FBN1):c.7409G>A (p.Cys2470Tyr) rs1555394398
NM_000138.5(FBN1):c.7409G>T (p.Cys2470Phe) rs1555394398
NM_000138.5(FBN1):c.7409_7410delinsAT (p.Cys2470Tyr) rs2141226319
NM_000138.5(FBN1):c.7410C>G (p.Cys2470Trp) rs1555394397
NM_000138.5(FBN1):c.7412C>T (p.Pro2471Leu) rs193922233
NM_000138.5(FBN1):c.7415A>G (p.Lys2472Arg)
NM_000138.5(FBN1):c.7418G>A (p.Gly2473Asp) rs2042971166
NM_000138.5(FBN1):c.7421del (p.Tyr2474fs) rs1060501060
NM_000138.5(FBN1):c.7428G>A (p.Leu2476=) rs1229985371
NM_000138.5(FBN1):c.7440_7442del (p.Arg2481del)
NM_000138.5(FBN1):c.7447T>C (p.Cys2483Arg) rs1555394391
NM_000138.5(FBN1):c.7448G>A (p.Cys2483Tyr) rs1555394390
NM_000138.5(FBN1):c.7453+10A>C
NM_000138.5(FBN1):c.7453+15A>G
NM_000138.5(FBN1):c.7453+16C>A
NM_000138.5(FBN1):c.7453+1del rs2042970813
NM_000138.5(FBN1):c.7453+2T>G
NM_000138.5(FBN1):c.7454-10T>C
NM_000138.5(FBN1):c.7454-13C>G
NM_000138.5(FBN1):c.7454-17C>T
NM_000138.5(FBN1):c.7454-1G>C rs2141222615
NM_000138.5(FBN1):c.7454-1G>T rs2141222615
NM_000138.5(FBN1):c.7454-2A>G rs2042947959
NM_000138.5(FBN1):c.7454-4G>T rs1365010331
NM_000138.5(FBN1):c.7460A>G (p.Asp2487Gly)
NM_000138.5(FBN1):c.7463A>C (p.Glu2488Ala)
NM_000138.5(FBN1):c.7463A>G (p.Glu2488Gly)
NM_000138.5(FBN1):c.7464G>A (p.Glu2488=) rs1597513869
NM_000138.5(FBN1):c.7465T>A (p.Cys2489Ser) rs1057520728
NM_000138.5(FBN1):c.7466G>A (p.Cys2489Tyr) rs1060501077
NM_000138.5(FBN1):c.7473_7480del (p.Lys2492fs) rs2042947612
NM_000138.5(FBN1):c.7476G>A (p.Lys2492=) rs2141222576
NM_000138.5(FBN1):c.7477C>T (p.Gln2493Ter) rs2042947671
NM_000138.5(FBN1):c.7478_7488del (p.Gln2493fs)
NM_000138.5(FBN1):c.7487G>T (p.Cys2496Phe) rs1555394245
NM_000138.5(FBN1):c.748T>C (p.Cys250Arg)
NM_000138.5(FBN1):c.748_749insCC (p.Cys250fs) rs2043996054
NM_000138.5(FBN1):c.7490A>C (p.Gln2497Pro) rs2042947403
NM_000138.5(FBN1):c.7492T>G (p.Phe2498Val)
NM_000138.5(FBN1):c.7496T>C (p.Leu2499Pro)
NM_000138.5(FBN1):c.7498T>C (p.Cys2500Arg) rs363810
NM_000138.5(FBN1):c.7498_7504del (p.Cys2500fs) rs2141222500
NM_000138.5(FBN1):c.7499G>A (p.Cys2500Tyr) rs794728160
NM_000138.5(FBN1):c.7502_7508dup (p.Thr2503_Ile2504insTer) rs2141222494
NM_000138.5(FBN1):c.7503T>G (p.Val2501=)
NM_000138.5(FBN1):c.7505A>T (p.Asn2502Ile) rs1555394243
NM_000138.5(FBN1):c.750C>T (p.Cys250=)
NM_000138.5(FBN1):c.7510A>T (p.Ile2504Phe) rs1223532755
NM_000138.5(FBN1):c.7515C>T (p.Gly2505=) rs374570475
NM_000138.5(FBN1):c.7520T>G (p.Phe2507Cys)
NM_000138.5(FBN1):c.7524A>T (p.Thr2508=) rs201992942
NM_000138.5(FBN1):c.7525T>G (p.Cys2509Gly) rs1060501055
NM_000138.5(FBN1):c.7526G>A (p.Cys2509Tyr)
NM_000138.5(FBN1):c.7530A>G (p.Lys2510=) rs754992689
NM_000138.5(FBN1):c.7531T>C (p.Cys2511Arg) rs794728272
NM_000138.5(FBN1):c.7532G>A (p.Cys2511Tyr) rs1555394238
NM_000138.5(FBN1):c.7533T>G (p.Cys2511Trp) rs750331217
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg) rs363811
NM_000138.5(FBN1):c.7549C>T (p.Gln2517Ter) rs1566891808
NM_000138.5(FBN1):c.754dup (p.Ala252fs) rs2043995981
NM_000138.5(FBN1):c.7558_7568del (p.His2519_Thr2520insTer) rs2141222379
NM_000138.5(FBN1):c.755_762del (p.Ala252fs) rs2043995821
NM_000138.5(FBN1):c.7563_7570delinsGTTGGA (p.Cys2522fs) rs2042946001
NM_000138.5(FBN1):c.7570+11G>C
NM_000138.5(FBN1):c.7570+20A>G
NM_000138.5(FBN1):c.7570+3G>A rs771716341
NM_000138.5(FBN1):c.7570G>C (p.Asp2524His) rs2042945976
NM_000138.5(FBN1):c.7571-13C>G
NM_000138.5(FBN1):c.7571-1G>A rs1566891706
NM_000138.5(FBN1):c.7571-5C>G
NM_000138.5(FBN1):c.7577A>G (p.Asn2526Ser) rs794728336
NM_000138.5(FBN1):c.7578T>C (p.Asn2526=)
NM_000138.5(FBN1):c.7579G>C (p.Glu2527Gln) rs2141222003
NM_000138.5(FBN1):c.7581A>G (p.Glu2527=) rs2141221997
NM_000138.5(FBN1):c.7582T>G (p.Cys2528Gly)
NM_000138.5(FBN1):c.7583G>C (p.Cys2528Ser) rs2141221984
NM_000138.5(FBN1):c.7584C>A (p.Cys2528Ter) rs1303268147
NM_000138.5(FBN1):c.7599T>A (p.Asn2533Lys)
NM_000138.5(FBN1):c.7603T>G (p.Cys2535Gly)
NM_000138.5(FBN1):c.7604G>A (p.Cys2535Tyr) rs1555394210
NM_000138.5(FBN1):c.7604_7605delinsTG (p.Cys2535Leu)
NM_000138.5(FBN1):c.7605C>A (p.Cys2535Ter) rs113544411
NM_000138.5(FBN1):c.7605C>G (p.Cys2535Trp) rs113544411
NM_000138.5(FBN1):c.7606G>A (p.Gly2536Arg) rs397515854
NM_000138.5(FBN1):c.7608G>A (p.Gly2536=)
NM_000138.5(FBN1):c.760C>G (p.Pro254Ala) rs2141353825
NM_000138.5(FBN1):c.7610C>G (p.Ser2537Cys) rs2141221930
NM_000138.5(FBN1):c.7610del (p.Ser2537fs) rs2141221934
NM_000138.5(FBN1):c.7617del (p.Ile2540fs) rs2141221916
NM_000138.5(FBN1):c.7621del (p.Cys2541fs) rs2042942749
NM_000138.5(FBN1):c.7622G>A (p.Cys2541Tyr)
NM_000138.5(FBN1):c.7624C>T (p.Gln2542Ter) rs794728276
NM_000138.5(FBN1):c.7627A>C (p.Asn2543His)
NM_000138.5(FBN1):c.762del (p.Leu256fs) rs1064793559
NM_000138.5(FBN1):c.7630del (p.Thr2544fs)
NM_000138.5(FBN1):c.7633C>T (p.Pro2545Ser) rs2141221883
NM_000138.5(FBN1):c.7636G>A (p.Gly2546Arg) rs2042942573
NM_000138.5(FBN1):c.763G>T (p.Gly255Trp)
NM_000138.5(FBN1):c.7641C>G (p.Ser2547Arg) rs1555394198
NM_000138.5(FBN1):c.7642T>C (p.Phe2548Leu) rs2141221864
NM_000138.5(FBN1):c.7648T>A (p.Cys2550Ser) rs1566891675
NM_000138.5(FBN1):c.7649G>A (p.Cys2550Tyr) rs1555394196
NM_000138.5(FBN1):c.7650_7651insA (p.Glu2551fs) rs1060501042
NM_000138.5(FBN1):c.7654T>C (p.Cys2552Arg) rs1566891668
NM_000138.5(FBN1):c.7655G>T (p.Cys2552Phe) rs113334360
NM_000138.5(FBN1):c.7655_7656del (p.Cys2552fs) rs1597513323
NM_000138.5(FBN1):c.7655_7656delinsAA (p.Cys2552Ter) rs1597513319
NM_000138.5(FBN1):c.7663G>A (p.Gly2555Arg) rs1566891655
NM_000138.5(FBN1):c.7664G>T (p.Gly2555Val) rs1566891654
NM_000138.5(FBN1):c.7665A>G (p.Gly2555=) rs1597513298
NM_000138.5(FBN1):c.7666T>G (p.Phe2556Val) rs193922234
NM_000138.5(FBN1):c.7668C>T (p.Phe2556=) rs2141221791
NM_000138.5(FBN1):c.7676_7677del (p.Asp2559fs) rs2141221768
NM_000138.5(FBN1):c.7678C>T (p.Gln2560Ter)
NM_000138.5(FBN1):c.7688C>G (p.Ser2563Cys) rs2042941564
NM_000138.5(FBN1):c.7693T>C (p.Cys2565Arg)
NM_000138.5(FBN1):c.7696G>T (p.Glu2566Ter) rs2141221739
NM_000138.5(FBN1):c.7697A>C (p.Glu2566Ala) rs2042941498
NM_000138.5(FBN1):c.7699+15C>T rs1280521883
NM_000138.5(FBN1):c.7699+18C>T rs753819758
NM_000138.5(FBN1):c.7699+1G>A rs1555394189
NM_000138.5(FBN1):c.7699+20G>A
NM_000138.5(FBN1):c.7699+5G>A rs1555394187
NM_000138.5(FBN1):c.769dup (p.Cys257fs)
NM_000138.5(FBN1):c.7700-10T>G
NM_000138.5(FBN1):c.7700-4T>G
NM_000138.5(FBN1):c.7700-7T>C
NM_000138.5(FBN1):c.7700-9C>G rs772261791
NM_000138.5(FBN1):c.7700-9C>T rs772261791
NM_000138.5(FBN1):c.7700_7706del (p.Asp2567fs) rs2141220862
NM_000138.5(FBN1):c.7704G>T (p.Val2568=)
NM_000138.5(FBN1):c.7706A>C (p.Asp2569Ala)
NM_000138.5(FBN1):c.7706A>G (p.Asp2569Gly) rs2141220859
NM_000138.5(FBN1):c.7706del (p.Asp2569fs)
NM_000138.5(FBN1):c.7708G>A (p.Glu2570Lys) rs886038786
NM_000138.5(FBN1):c.7710G>A (p.Glu2570=) rs748055037
NM_000138.5(FBN1):c.7710_7712del (p.Glu2570_Cys2571delinsAsp)
NM_000138.5(FBN1):c.7711T>C (p.Cys2571Arg) rs2042934926
NM_000138.5(FBN1):c.7713_7730del (p.Glu2572_Cys2577del) rs2141220791
NM_000138.5(FBN1):c.7714G>A (p.Glu2572Lys) rs2141220835
NM_000138.5(FBN1):c.7714G>T (p.Glu2572Ter)
NM_000138.5(FBN1):c.7718G>A (p.Gly2573Asp)
NM_000138.5(FBN1):c.7726C>T (p.Arg2576Cys) rs147195031
NM_000138.5(FBN1):c.7728C>G (p.Arg2576=)
NM_000138.5(FBN1):c.7728C>T (p.Arg2576=) rs751226629
NM_000138.5(FBN1):c.7729dup (p.Cys2577fs) rs1555394151
NM_000138.5(FBN1):c.772C>T (p.Gln258Ter) rs146348130
NM_000138.5(FBN1):c.7732C>A (p.Gln2578Lys)
NM_000138.5(FBN1):c.7735_7746dup (p.His2579_Gln2582dup) rs2141220752
NM_000138.5(FBN1):c.7736A>C (p.His2579Pro)
NM_000138.5(FBN1):c.7737T>G (p.His2579Gln)
NM_000138.5(FBN1):c.7739G>A (p.Gly2580Asp)
NM_000138.5(FBN1):c.7742G>C (p.Cys2581Ser) rs1555394149
NM_000138.5(FBN1):c.7748A>G (p.Asn2583Ser) rs2042934435
NM_000138.5(FBN1):c.7752C>G (p.Ile2584Met) rs2042934389
NM_000138.5(FBN1):c.7760del (p.Gly2587fs) rs1597512677
NM_000138.5(FBN1):c.7763A>G (p.Tyr2588Cys) rs1566891436
NM_000138.5(FBN1):c.7765A>G (p.Arg2589Gly) rs111413134
NM_000138.5(FBN1):c.7768T>G (p.Cys2590Gly)
NM_000138.5(FBN1):c.7769G>A (p.Cys2590Tyr) rs869025416
NM_000138.5(FBN1):c.776G>T (p.Gly259Val) rs751169871
NM_000138.5(FBN1):c.7775G>A (p.Cys2592Tyr) rs112118237
NM_000138.5(FBN1):c.7775G>T (p.Cys2592Phe) rs112118237
NM_000138.5(FBN1):c.7779C>G (p.Pro2593=)
NM_000138.5(FBN1):c.777_801del (p.Gly260fs) rs2043994986
NM_000138.5(FBN1):c.7784G>A (p.Gly2595Asp) rs397515857
NM_000138.5(FBN1):c.7786_7792del (p.Tyr2596fs) rs2141220647
NM_000138.5(FBN1):c.7787A>G (p.Tyr2596Cys) rs1566891404
NM_000138.5(FBN1):c.7788C>A (p.Tyr2596Ter) rs1555394142
NM_000138.5(FBN1):c.7788C>T (p.Tyr2596=) rs1555394142
NM_000138.5(FBN1):c.7791C>G (p.Leu2597=)
NM_000138.5(FBN1):c.7799A>G (p.Tyr2600Cys) rs2141220639
NM_000138.5(FBN1):c.7800C>T (p.Tyr2600=) rs1404133653
NM_000138.5(FBN1):c.7801C>T (p.Gln2601Ter) rs1597512600
NM_000138.5(FBN1):c.7806G>C (p.Trp2602Cys)
NM_000138.5(FBN1):c.7808_7809del (p.Asn2603fs) rs2141220616
NM_000138.5(FBN1):c.7810C>T (p.Gln2604Ter) rs111496285
NM_000138.5(FBN1):c.7812G>C (p.Gln2604His) rs2141220609
NM_000138.5(FBN1):c.7819+13del
NM_000138.5(FBN1):c.7819+1G>A rs112907302
NM_000138.5(FBN1):c.7819+1G>T rs112907302
NM_000138.5(FBN1):c.7819+3A>C rs1555394135
NM_000138.5(FBN1):c.7819+4A>G rs794728278
NM_000138.5(FBN1):c.7819+5G>T
NM_000138.5(FBN1):c.7819G>T (p.Asp2607Tyr) rs1597512576
NM_000138.5(FBN1):c.7820-11T>C
NM_000138.5(FBN1):c.7820-17T>A
NM_000138.5(FBN1):c.7822G>T (p.Glu2608Ter) rs1566890005
NM_000138.5(FBN1):c.7827C>T (p.Asn2609=)
NM_000138.5(FBN1):c.7828G>A (p.Glu2610Lys) rs111984349
NM_000138.5(FBN1):c.7832G>A (p.Cys2611Tyr) rs794728337
NM_000138.5(FBN1):c.7834C>T (p.Leu2612Phe)
NM_000138.5(FBN1):c.7840G>A (p.Ala2614Thr) rs1280320763
NM_000138.5(FBN1):c.7840G>C (p.Ala2614Pro) rs1280320763
NM_000138.5(FBN1):c.7840del (p.Ala2614fs)
NM_000138.5(FBN1):c.7842T>A (p.Ala2614=) rs764496589
NM_000138.5(FBN1):c.7843C>G (p.His2615Asp) rs2042899271
NM_000138.5(FBN1):c.7851C>A (p.Cys2617Ter) rs147019323
NM_000138.5(FBN1):c.7851C>T (p.Cys2617=)
NM_000138.5(FBN1):c.7852G>T (p.Gly2618Ter) rs141133182
NM_000138.5(FBN1):c.7856G>A (p.Gly2619Glu) rs113926846
NM_000138.5(FBN1):c.7863C>T (p.Ser2621=) rs1342441428
NM_000138.5(FBN1):c.7864T>C (p.Cys2622Arg) rs1555393882
NM_000138.5(FBN1):c.7865G>C (p.Cys2622Ser) rs1555393880
NM_000138.5(FBN1):c.7865G>T (p.Cys2622Phe)
NM_000138.5(FBN1):c.7868A>T (p.His2623Leu)
NM_000138.5(FBN1):c.786C>T (p.Cys262=) rs1597591684
NM_000138.5(FBN1):c.7871A>G (p.Asn2624Ser) rs113935744
NM_000138.5(FBN1):c.7876C>G (p.Leu2626Val) rs2042898824
NM_000138.5(FBN1):c.7877T>A (p.Leu2626Gln) rs794728338
NM_000138.5(FBN1):c.7879G>A (p.Gly2627Arg) rs193922239
NM_000138.5(FBN1):c.7879G>C (p.Gly2627Arg) rs193922239
NM_000138.5(FBN1):c.7880G>A (p.Gly2627Glu) rs1555393875
NM_000138.5(FBN1):c.7880G>C (p.Gly2627Ala) rs1555393875
NM_000138.5(FBN1):c.7881dup (p.Ser2628fs) rs1060501067
NM_000138.5(FBN1):c.7892G>A (p.Cys2631Tyr) rs111856492
NM_000138.5(FBN1):c.7892G>T (p.Cys2631Phe) rs111856492
NM_000138.5(FBN1):c.7895T>C (p.Met2632Thr)
NM_000138.5(FBN1):c.789T>C (p.Ile263=) rs2141353743
NM_000138.5(FBN1):c.7905C>T (p.Ala2635=)
NM_000138.5(FBN1):c.7907del (p.Gly2636fs) rs2141214897
NM_000138.5(FBN1):c.7912C>T (p.Gln2638Ter) rs2141214889
NM_000138.5(FBN1):c.7914G>T (p.Gln2638His) rs1597509725
NM_000138.5(FBN1):c.7921C>T (p.Gln2641Ter) rs1555393866
NM_000138.5(FBN1):c.7932A>T (p.Gly2644=) rs1597509710
NM_000138.5(FBN1):c.7936T>A (p.Cys2646Ser) rs1555393863
NM_000138.5(FBN1):c.7937G>A (p.Cys2646Tyr) rs1597509701
NM_000138.5(FBN1):c.793A>T (p.Thr265Ser) rs982468949
NM_000138.5(FBN1):c.7954T>A (p.Cys2652Ser) rs1555393858
NM_000138.5(FBN1):c.7954T>C (p.Cys2652Arg) rs1555393858
NM_000138.5(FBN1):c.7959del (p.Ser2654fs) rs1597509674
NM_000138.5(FBN1):c.795del (p.Val266fs) rs2141353727
NM_000138.5(FBN1):c.7962T>C (p.Ser2654=)
NM_000138.5(FBN1):c.7966C>T (p.Gln2656Ter) rs2141214772
NM_000138.5(FBN1):c.796_810del (p.Val266_Glu270del)
NM_000138.5(FBN1):c.7970C>T (p.Ala2657Val)
NM_000138.5(FBN1):c.7974del (p.Cys2659fs) rs1555393848
NM_000138.5(FBN1):c.7974dup (p.Cys2659fs) rs1555393848
NM_000138.5(FBN1):c.7975T>G (p.Cys2659Gly) rs1555393847
NM_000138.5(FBN1):c.7976_7977delinsTT (p.Cys2659Phe)
NM_000138.5(FBN1):c.7977C>A (p.Cys2659Ter) rs1555393844
NM_000138.5(FBN1):c.7979G>A (p.Ser2660Asn) rs2141214726
NM_000138.5(FBN1):c.7980C>G (p.Ser2660Arg) rs1060501030
NM_000138.5(FBN1):c.7982A>G (p.Tyr2661Cys) rs112196241
NM_000138.5(FBN1):c.7983T>A (p.Tyr2661Ter) rs2141214712
NM_000138.5(FBN1):c.7987T>C (p.Cys2663Arg) rs1566889870
NM_000138.5(FBN1):c.7987_8004del (p.Cys2663_Gly2668del) rs1597509607
NM_000138.5(FBN1):c.7988G>A (p.Cys2663Tyr) rs1597509631
NM_000138.5(FBN1):c.7988G>C (p.Cys2663Ser) rs1597509631
NM_000138.5(FBN1):c.7988G>T (p.Cys2663Phe) rs1597509631
NM_000138.5(FBN1):c.7991C>G (p.Ser2664Cys) rs2042896586
NM_000138.5(FBN1):c.7991C>T (p.Ser2664Phe) rs2042896586
NM_000138.5(FBN1):c.7994A>G (p.Asn2665Ser) rs763173031
NM_000138.5(FBN1):c.7999G>T (p.Glu2667Ter) rs149062442
NM_000138.5(FBN1):c.799_805del (p.Gly267fs) rs1060501100
NM_000138.5(FBN1):c.7C>T (p.Arg3Ter) rs886038797
NM_000138.5(FBN1):c.8005G>T (p.Gly2669Cys) rs794728281
NM_000138.5(FBN1):c.8006G>T (p.Gly2669Val) rs886038869
NM_000138.5(FBN1):c.8008_8009insCACCCTCGGTAACCTGTGTGGTAATA (p.Tyr2670fs) rs2141214637
NM_000138.5(FBN1):c.8009A>G (p.Tyr2670Cys) rs794728339
NM_000138.5(FBN1):c.8009A>T (p.Tyr2670Phe) rs794728339
NM_000138.5(FBN1):c.8011_8012del (p.Leu2671fs) rs2141214616
NM_000138.5(FBN1):c.8012T>C (p.Leu2671Pro) rs2141214610
NM_000138.5(FBN1):c.8014T>C (p.Cys2672Arg) rs1555393833
NM_000138.5(FBN1):c.8014T>G (p.Cys2672Gly) rs1555393833
NM_000138.5(FBN1):c.8015G>A (p.Cys2672Tyr) rs1555393831
NM_000138.5(FBN1):c.8015G>T (p.Cys2672Phe) rs1555393831
NM_000138.5(FBN1):c.8016_8017insAG (p.Gly2673fs) rs2141214595
NM_000138.5(FBN1):c.801del (p.Ser268fs) rs1060501050
NM_000138.5(FBN1):c.8020T>C (p.Cys2674Arg) rs1060501014
NM_000138.5(FBN1):c.8029_8030insACAGTAACCACCTG (p.Gly2677fs)
NM_000138.5(FBN1):c.802T>C (p.Ser268Pro)
NM_000138.5(FBN1):c.8032dup (p.Tyr2678fs) rs2042895751
NM_000138.5(FBN1):c.8034C>T (p.Tyr2678=) rs1597509559
NM_000138.5(FBN1):c.8037C>T (p.Phe2679=)
NM_000138.5(FBN1):c.8038C>T (p.Arg2680Cys) rs794728283
NM_000138.5(FBN1):c.8040dup (p.Ile2681fs)
NM_000138.5(FBN1):c.8041A>G (p.Ile2681Val)
NM_000138.5(FBN1):c.8042T>G (p.Ile2681Arg) rs1555393825
NM_000138.5(FBN1):c.8047C>T (p.Gln2683Ter) rs2141214520
NM_000138.5(FBN1):c.8051+10G>T rs1007432990
NM_000138.5(FBN1):c.8051+18T>C
NM_000138.5(FBN1):c.8051+1G>A rs2141214507
NM_000138.5(FBN1):c.8051+2T>A rs2141214505
NM_000138.5(FBN1):c.8051+375G>T rs1060501062
NM_000138.5(FBN1):c.8051+3_8051+9del rs2141214499
NM_000138.5(FBN1):c.8052-10T>G
NM_000138.5(FBN1):c.8052-13C>T
NM_000138.5(FBN1):c.8052-14C>A
NM_000138.5(FBN1):c.8052-1G>A
NM_000138.5(FBN1):c.8052-2A>G
NM_000138.5(FBN1):c.8052-5T>C
NM_000138.5(FBN1):c.8052-6_8052-3del rs2141211838
NM_000138.5(FBN1):c.8054A>G (p.His2685Arg) rs1555393666
NM_000138.5(FBN1):c.8056T>C (p.Cys2686Arg) rs1566889188
NM_000138.5(FBN1):c.8057G>A (p.Cys2686Tyr)
NM_000138.5(FBN1):c.8057G>T (p.Cys2686Phe) rs2141211820
NM_000138.5(FBN1):c.8058T>A (p.Cys2686Ter)
NM_000138.5(FBN1):c.8059G>T (p.Val2687Phe) rs1464168530
NM_000138.5(FBN1):c.8059_8060del (p.Val2687fs) rs2042873946
NM_000138.5(FBN1):c.8069T>A (p.Met2690Lys) rs747476726
NM_000138.5(FBN1):c.806T>C (p.Phe269Ser) rs951026080
NM_000138.5(FBN1):c.8073C>T (p.Gly2691=)
NM_000138.5(FBN1):c.8080C>T (p.Arg2694Ter) rs200309328
NM_000138.5(FBN1):c.8080del (p.Arg2694fs)
NM_000138.5(FBN1):c.8081G>A (p.Arg2694Gln) rs371375126
NM_000138.5(FBN1):c.8082A>C (p.Arg2694=) rs1597507799
NM_000138.5(FBN1):c.8087del (p.Asn2696fs) rs1060501065
NM_000138.5(FBN1):c.8089C>A (p.Pro2697Thr)
NM_000138.5(FBN1):c.808G>C (p.Glu270Gln) rs2043994842
NM_000138.5(FBN1):c.8092G>T (p.Glu2698Ter) rs1597507783
NM_000138.5(FBN1):c.8098C>T (p.Pro2700Ser)
NM_000138.5(FBN1):c.8099C>T (p.Pro2700Leu) rs886038782
NM_000138.5(FBN1):c.8101G>A (p.Val2701Ile) rs753925682
NM_000138.5(FBN1):c.8101_8102del (p.Val2701fs) rs1597507763
NM_000138.5(FBN1):c.8103C>T (p.Val2701=) rs1340105891
NM_000138.5(FBN1):c.8103_8104insT (p.Ser2702Ter) rs2141211736
NM_000138.5(FBN1):c.8108G>T (p.Gly2703Val) rs794728284
NM_000138.5(FBN1):c.8108del (p.Gly2703fs)
NM_000138.5(FBN1):c.810G>A (p.Glu270=)
NM_000138.5(FBN1):c.8118del (p.Asp2706fs) rs2141211729
NM_000138.5(FBN1):c.811T>G (p.Cys271Gly) rs1060501019
NM_000138.5(FBN1):c.8121C>A (p.Asp2707Glu) rs1566889147
NM_000138.5(FBN1):c.8121C>T (p.Asp2707=) rs1566889147
NM_000138.5(FBN1):c.8128C>T (p.Leu2710Phe) rs1342786403
NM_000138.5(FBN1):c.8129T>C (p.Leu2710Pro) rs1297376845
NM_000138.5(FBN1):c.8136A>G (p.Pro2712=)
NM_000138.5(FBN1):c.8137G>A (p.Glu2713Lys) rs2141211697
NM_000138.5(FBN1):c.8138A>G (p.Glu2713Gly) rs1555393658
NM_000138.5(FBN1):c.8139G>A (p.Glu2713=) rs2141211689
NM_000138.5(FBN1):c.8140G>A (p.Ala2714Thr) rs766170041
NM_000138.5(FBN1):c.8140G>T (p.Ala2714Ser)
NM_000138.5(FBN1):c.8140del (p.Ala2714fs)
NM_000138.5(FBN1):c.8144G>A (p.Cys2715Tyr) rs1597507716
NM_000138.5(FBN1):c.8144G>C (p.Cys2715Ser) rs1597507716
NM_000138.5(FBN1):c.8145T>A (p.Cys2715Ter) rs1597507712
NM_000138.5(FBN1):c.8147dup (p.Tyr2716Ter) rs1555393657
NM_000138.5(FBN1):c.8148C>G (p.Tyr2716Ter) rs112642323
NM_000138.5(FBN1):c.8148C>T (p.Tyr2716=) rs112642323
NM_000138.5(FBN1):c.8157G>A (p.Lys2719=) rs2042872810
NM_000138.5(FBN1):c.816A>G (p.Lys272=)
NM_000138.5(FBN1):c.8173A>T (p.Lys2725Ter) rs1555393652
NM_000138.5(FBN1):c.8181C>T (p.Gly2727=)
NM_000138.5(FBN1):c.8185A>C (p.Lys2729Gln) rs370096856
NM_000138.5(FBN1):c.8195G>A (p.Ser2732Asn) rs2042872305
NM_000138.5(FBN1):c.819C>A (p.Cys273Ter)
NM_000138.5(FBN1):c.819C>T (p.Cys273=)
NM_000138.5(FBN1):c.8203G>A (p.Glu2735Lys)
NM_000138.5(FBN1):c.8213C>A (p.Ala2738Asp) rs2042871947
NM_000138.5(FBN1):c.8219_8225dup (p.Asp2743fs)
NM_000138.5(FBN1):c.821C>A (p.Pro274His) rs1085307537
NM_000138.5(FBN1):c.8222T>C (p.Ile2741Thr)
NM_000138.5(FBN1):c.8223C>G (p.Ile2741Met) rs150065311
NM_000138.5(FBN1):c.8226+12G>A rs2141211477
NM_000138.5(FBN1):c.8226+1G>A rs398122833
NM_000138.5(FBN1):c.8226+1G>T rs398122833
NM_000138.5(FBN1):c.8226+5G>A rs193922243
NM_000138.5(FBN1):c.8226G>T (p.Glu2742Asp) rs1060501045
NM_000138.5(FBN1):c.8227-12G>A
NM_000138.5(FBN1):c.8227-13T>C
NM_000138.5(FBN1):c.8227-5dup
NM_000138.5(FBN1):c.8227-6T>C rs1198254608
NM_000138.5(FBN1):c.8232G>C (p.Gln2744His) rs376119827
NM_000138.5(FBN1):c.8233T>G (p.Ser2745Ala)
NM_000138.5(FBN1):c.8235T>C (p.Ser2745=)
NM_000138.5(FBN1):c.8235dup (p.Glu2746Ter) rs2141210158
NM_000138.5(FBN1):c.823G>A (p.Ala275Thr) rs1345051744
NM_000138.5(FBN1):c.8240_8241del (p.Thr2747fs)
NM_000138.5(FBN1):c.8242G>T (p.Glu2748Ter)
NM_000138.5(FBN1):c.8247C>T (p.Ala2749=) rs1555393567
NM_000138.5(FBN1):c.8249A>G (p.Asn2750Ser) rs763816801
NM_000138.5(FBN1):c.8256T>C (p.Ser2752=) rs2141210112
NM_000138.5(FBN1):c.8259del (p.Ala2754fs) rs1597506905
NM_000138.5(FBN1):c.8260del (p.Ala2754fs)
NM_000138.5(FBN1):c.8267G>C (p.Trp2756Ser) rs397515861
NM_000138.5(FBN1):c.8268G>A (p.Trp2756Ter) rs267606796
NM_000138.5(FBN1):c.8270A>G (p.Asp2757Gly) rs1060501088
NM_000138.5(FBN1):c.8270A>T (p.Asp2757Val) rs1060501088
NM_000138.5(FBN1):c.8277G>A (p.Glu2759=) rs1597506888
NM_000138.5(FBN1):c.8282del (p.Thr2761fs)
NM_000138.5(FBN1):c.8285C>A (p.Ala2762Asp)
NM_000138.5(FBN1):c.8293G>A (p.Ala2765Thr)
NM_000138.5(FBN1):c.8297del (p.Phe2766fs)
NM_000138.5(FBN1):c.830A>T (p.His277Leu)
NM_000138.5(FBN1):c.8312_8327dup (p.Arg2776_Ile2777insGlnTer) rs2141210000
NM_000138.5(FBN1):c.831del (p.His277fs) rs2043994405
NM_000138.5(FBN1):c.8323del (p.Val2775fs) rs2141210009
NM_000138.5(FBN1):c.8329del (p.Ile2777fs) rs1566888689
NM_000138.5(FBN1):c.8330T>A (p.Ile2777Asn) rs1555393556
NM_000138.5(FBN1):c.8333T>G (p.Leu2778Arg) rs1555393553
NM_000138.5(FBN1):c.8335G>T (p.Glu2779Ter) rs1555393551
NM_000138.5(FBN1):c.8336A>C (p.Glu2779Ala)
NM_000138.5(FBN1):c.8338dup (p.Leu2780fs) rs2042860621
NM_000138.5(FBN1):c.8347G>C (p.Ala2783Pro) rs2141209966
NM_000138.5(FBN1):c.8348C>A (p.Ala2783Asp) rs2141209965
NM_000138.5(FBN1):c.8356A>G (p.Thr2786Ala) rs781352764
NM_000138.5(FBN1):c.8359C>G (p.Leu2787Val)
NM_000138.5(FBN1):c.835C>G (p.Leu279Val)
NM_000138.5(FBN1):c.8369A>G (p.His2790Arg) rs1271078955
NM_000138.5(FBN1):c.8371A>C (p.Asn2791His)
NM_000138.5(FBN1):c.8378A>G (p.Tyr2793Cys) rs397515863
NM_000138.5(FBN1):c.8384T>A (p.Ile2795Asn) rs2042859661
NM_000138.5(FBN1):c.8385C>A (p.Ile2795=) rs138574576
NM_000138.5(FBN1):c.8393G>A (p.Gly2798Glu) rs1060501049
NM_000138.5(FBN1):c.8398dup (p.Glu2800fs) rs2141209879
NM_000138.5(FBN1):c.8402A>G (p.Asp2801Gly)
NM_000138.5(FBN1):c.8405G>A (p.Gly2802Asp) rs770484928
NM_000138.5(FBN1):c.8409C>G (p.Phe2803Leu)
NM_000138.5(FBN1):c.8417T>A (p.Ile2806Asn) rs2141209854
NM_000138.5(FBN1):c.841_842insT (p.Glu281fs) rs886039034
NM_000138.5(FBN1):c.8423A>G (p.Gln2808Arg)
NM_000138.5(FBN1):c.8432G>A (p.Gly2811Glu) rs2042858918
NM_000138.5(FBN1):c.8435T>C (p.Ile2812Thr) rs2042858844
NM_000138.5(FBN1):c.8437A>T (p.Ser2813Cys) rs2042858812
NM_000138.5(FBN1):c.8438G>A (p.Ser2813Asn)
NM_000138.5(FBN1):c.843A>T (p.Glu281Asp) rs772218768
NM_000138.5(FBN1):c.8442C>A (p.Tyr2814Ter)
NM_000138.5(FBN1):c.8444T>A (p.Leu2815His) rs113170280
NM_000138.5(FBN1):c.8444T>C (p.Leu2815Pro)
NM_000138.5(FBN1):c.8447A>C (p.His2816Pro) rs1555393532
NM_000138.5(FBN1):c.8456dup (p.Lys2820fs) rs2141209783
NM_000138.5(FBN1):c.846G>A (p.Val282=) rs2043994063
NM_000138.5(FBN1):c.8471C>A (p.Ala2824Asp) rs1060501084
NM_000138.5(FBN1):c.8474G>T (p.Gly2825Val)
NM_000138.5(FBN1):c.8477_8478insATAG (p.Thr2826_Tyr2827insTer) rs2042858025
NM_000138.5(FBN1):c.8478del (p.Tyr2827fs)
NM_000138.5(FBN1):c.8480A>C (p.Tyr2827Ser) rs794728287
NM_000138.5(FBN1):c.8483C>A (p.Ser2828Ter)
NM_000138.5(FBN1):c.8488C>T (p.Gln2830Ter) rs886038795
NM_000138.5(FBN1):c.8491del (p.Ile2831fs)
NM_000138.5(FBN1):c.8496T>C (p.Ser2832=) rs1216871823
NM_000138.5(FBN1):c.8497A>G (p.Ser2833Gly)
NM_000138.5(FBN1):c.8499del (p.Ser2833fs) rs2141209667
NM_000138.5(FBN1):c.849A>G (p.Ser283=) rs2141353586
NM_000138.5(FBN1):c.8500A>G (p.Thr2834Ala) rs1284038548
NM_000138.5(FBN1):c.8506C>T (p.Leu2836Phe)
NM_000138.5(FBN1):c.8512_8526A[5]GAAAGAACTTGGAGGAGGAGCCAAGATGGCCGAATAGGAACAGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAACTT[1] (p.Asn2843delinsGlyGlyGlyAlaLysMetAlaGluTer)
NM_000138.5(FBN1):c.8516dup (p.Lys2840fs) rs1555393514
NM_000138.5(FBN1):c.8521G>A (p.Glu2841Lys) rs587782948
NM_000138.5(FBN1):c.8522A>T (p.Glu2841Val)
NM_000138.5(FBN1):c.8523A>T (p.Glu2841Asp)
NM_000138.5(FBN1):c.8525_8529del (p.Leu2842fs) rs1064794130
NM_000138.5(FBN1):c.8536G>A (p.Glu2846Lys) rs1555393508
NM_000138.5(FBN1):c.8536G>C (p.Glu2846Gln) rs1555393508
NM_000138.5(FBN1):c.8543A>G (p.Lys2848Arg) rs765839151
NM_000138.5(FBN1):c.8543_8544del (p.Lys2848fs) rs794728323
NM_000138.5(FBN1):c.8544A>C (p.Lys2848Asn) rs2042856933
NM_000138.5(FBN1):c.8544del (p.Lys2848fs) rs794728323
NM_000138.5(FBN1):c.8546_8547del (p.Lys2848_Tyr2849insTer)
NM_000138.5(FBN1):c.8555A>G (p.Asp2852Gly) rs773653099
NM_000138.5(FBN1):c.8557T>C (p.Tyr2853His)
NM_000138.5(FBN1):c.855del (p.Lys285fs) rs2141353573
NM_000138.5(FBN1):c.8561del (p.Leu2854fs) rs1060501033
NM_000138.5(FBN1):c.8576del (p.Gly2859fs) rs2141209492
NM_000138.5(FBN1):c.8579A>G (p.Asp2860Gly) rs368599541
NM_000138.5(FBN1):c.8582A>T (p.Asn2861Ile) rs747213800
NM_000138.5(FBN1):c.8586G>A (p.Leu2862=) rs2042856515
NM_000138.5(FBN1):c.8591T>A (p.Met2864Lys) rs1060501028
NM_000138.5(FBN1):c.8591T>C (p.Met2864Thr) rs1060501028
NM_000138.5(FBN1):c.8592G>A (p.Met2864Ile)
NM_000138.5(FBN1):c.8597T>A (p.Ile2866Asn) rs1597506544
NM_000138.5(FBN1):c.859G>A (p.Glu287Lys)
NM_000138.5(FBN1):c.8601G>A (p.Gln2867=) rs2141209442
NM_000138.5(FBN1):c.862+13A>C rs2043993776
NM_000138.5(FBN1):c.862+14T>G
NM_000138.5(FBN1):c.862G>A (p.Asp288Asn)
NM_000138.5(FBN1):c.863-10del rs748672558
NM_000138.5(FBN1):c.863-10dup rs748672558
NM_000138.5(FBN1):c.863-2A>G
NM_000138.5(FBN1):c.863-7A>G rs771131700
NM_000138.5(FBN1):c.865A>G (p.Ile289Val)
NM_000138.5(FBN1):c.868G>T (p.Asp290Tyr)
NM_000138.5(FBN1):c.872A>T (p.Glu291Val)
NM_000138.5(FBN1):c.87G>T (p.Leu29Phe)
NM_000138.5(FBN1):c.890G>A (p.Gly297Glu)
NM_000138.5(FBN1):c.897_898del (p.Cys299_Glu300delinsTer) rs2141343447
NM_000138.5(FBN1):c.8G>A (p.Arg3Gln) rs149929989
NM_000138.5(FBN1):c.902G>C (p.Gly301Ala) rs142888621
NM_000138.5(FBN1):c.905G>A (p.Gly302Asp)
NM_000138.5(FBN1):c.905G>T (p.Gly302Val) rs779866501
NM_000138.5(FBN1):c.905del (p.Gly302fs) rs2043913021
NM_000138.5(FBN1):c.907G>A (p.Glu303Lys) rs1566919661
NM_000138.5(FBN1):c.90G>T (p.Glu30Asp) rs778831047
NM_000138.5(FBN1):c.916_919del (p.Asn306fs) rs1597587532
NM_000138.5(FBN1):c.917del (p.Asn306fs) rs1064793637
NM_000138.5(FBN1):c.920_921del (p.Thr307fs)
NM_000138.5(FBN1):c.925del (p.Ser309fs) rs2141343395
NM_000138.5(FBN1):c.928A>C (p.Ser310Arg)
NM_000138.5(FBN1):c.929G>C (p.Ser310Thr)
NM_000138.5(FBN1):c.933C>G (p.Tyr311Ter) rs2141343382
NM_000138.5(FBN1):c.936T>C (p.Phe312=)
NM_000138.5(FBN1):c.938G>T (p.Cys313Phe) rs2141343367
NM_000138.5(FBN1):c.943T>C (p.Cys315Arg)
NM_000138.5(FBN1):c.945del (p.Pro317fs) rs2141343351
NM_000138.5(FBN1):c.946C>A (p.Pro316Thr) rs756687172
NM_000138.5(FBN1):c.947C>A (p.Pro316His)
NM_000138.5(FBN1):c.948C>A (p.Pro316=)
NM_000138.5(FBN1):c.953del (p.Gly318fs)
NM_000138.5(FBN1):c.962C>T (p.Thr321Ile) rs2043911873
NM_000138.5(FBN1):c.963C>G (p.Thr321=) rs767914958
NM_000138.5(FBN1):c.972T>C (p.Asp324=)
NM_000138.5(FBN1):c.978del (p.Arg327fs) rs1060501094
NM_000138.5(FBN1):c.979A>G (p.Arg327Gly) rs1597587453
NM_000138.5(FBN1):c.988+13A>G
NM_000138.5(FBN1):c.988+14C>A
NM_000138.5(FBN1):c.988+16A>G
NM_000138.5(FBN1):c.988+16A>T
NM_000138.5(FBN1):c.988+16_988+26del
NM_000138.5(FBN1):c.988+20G>T rs375760654
NM_000138.5(FBN1):c.989-10T>A
NM_000138.5(FBN1):c.989-20A>G
NM_000138.5(FBN1):c.989-8G>A
NM_000138.5(FBN1):c.98A>G (p.Asn33Ser) rs2140787661
NM_000138.5(FBN1):c.991G>A (p.Val331Ile)
NM_000138.5(FBN1):c.992T>A (p.Val331Asp)
NM_000138.5(FBN1):c.995G>T (p.Arg332Leu) rs748929044
NM_000138.5(FBN1):c.997_1032del (p.Pro333_Arg344del) rs2043846857
NM_001032283.3(TMPO):c.105C>T (p.Asp35=)
NM_001032283.3(TMPO):c.108G>C (p.Val36=)
NM_001032283.3(TMPO):c.111C>T (p.Tyr37=) rs1299226116
NM_001032283.3(TMPO):c.114C>A (p.Val38=)
NM_001032283.3(TMPO):c.117G>C (p.Gln39His) rs1285673694
NM_001032283.3(TMPO):c.137C>G (p.Thr46Arg) rs776416936
NM_001032283.3(TMPO):c.150G>A (p.Arg50=)
NM_001032283.3(TMPO):c.152C>T (p.Pro51Leu)
NM_001032283.3(TMPO):c.170C>A (p.Thr57Asn)
NM_001032283.3(TMPO):c.170C>G (p.Thr57Ser)
NM_001032283.3(TMPO):c.170C>T (p.Thr57Ile)
NM_001032283.3(TMPO):c.174C>G (p.Asn58Lys)
NM_001032283.3(TMPO):c.185C>T (p.Pro62Leu) rs746863579
NM_001032283.3(TMPO):c.186C>T (p.Pro62=)
NM_001032283.3(TMPO):c.210G>T (p.Glu70Asp)
NM_001032283.3(TMPO):c.221C>T (p.Thr74Ile)
NM_001032283.3(TMPO):c.229C>T (p.Leu77Phe)
NM_001032283.3(TMPO):c.231C>T (p.Leu77=)
NM_001032283.3(TMPO):c.234C>G (p.Gly78=) rs753917997
NM_001032283.3(TMPO):c.234C>T (p.Gly78=) rs753917997
NM_001032283.3(TMPO):c.236C>T (p.Ser79Phe)
NM_001032283.3(TMPO):c.251C>T (p.Ala84Val)
NM_001032283.3(TMPO):c.256C>G (p.Arg86Gly) rs1875778307
NM_001032283.3(TMPO):c.267A>T (p.Ala89=) rs1055056946
NM_001032283.3(TMPO):c.272T>C (p.Val91Ala)
NM_001032283.3(TMPO):c.273C>A (p.Val91=)
NM_001032283.3(TMPO):c.274G>A (p.Gly92Ser)
NM_001032283.3(TMPO):c.278G>A (p.Arg93Lys) rs1555201635
NM_001032283.3(TMPO):c.279+14dup rs749108666
NM_001032283.3(TMPO):c.279+16C>T rs1010758415
NM_001032283.3(TMPO):c.279+17G>A
NM_001032283.3(TMPO):c.279+4A>C rs1875782829
NM_001032283.3(TMPO):c.279G>A (p.Arg93=) rs759987514
NM_001032283.3(TMPO):c.280-11T>G
NM_001032283.3(TMPO):c.280-13A>G
NM_001032283.3(TMPO):c.280-13A>T
NM_001032283.3(TMPO):c.280-18A>G
NM_001032283.3(TMPO):c.280-4A>G
NM_001032283.3(TMPO):c.284C>T (p.Ala95Val)
NM_001032283.3(TMPO):c.287C>T (p.Thr96Ile)
NM_001032283.3(TMPO):c.306C>T (p.Pro102=)
NM_001032283.3(TMPO):c.308G>C (p.Arg103Thr)
NM_001032283.3(TMPO):c.324T>A (p.Asp108Glu)
NM_001032283.3(TMPO):c.357T>G (p.Asp119Glu) rs765524061
NM_001032283.3(TMPO):c.365A>T (p.Asp122Val) rs904567500
NM_001032283.3(TMPO):c.36A>G (p.Thr12=)
NM_001032283.3(TMPO):c.373G>A (p.Val125Met) rs1325674217
NM_001032283.3(TMPO):c.380A>G (p.Tyr127Cys) rs1259294108
NM_001032283.3(TMPO):c.383G>A (p.Gly128Glu) rs886049910
NM_001032283.3(TMPO):c.386T>G (p.Val129Gly)
NM_001032283.3(TMPO):c.391C>T (p.Pro131Ser)
NM_001032283.3(TMPO):c.396T>A (p.Gly132=) rs397516844
NM_001032283.3(TMPO):c.399T>C (p.Pro133=)
NM_001032283.3(TMPO):c.400A>C (p.Ile134Leu)
NM_001032283.3(TMPO):c.400A>T (p.Ile134Phe) rs745442874
NM_001032283.3(TMPO):c.407-4C>T
NM_001032283.3(TMPO):c.423A>G (p.Leu141=)
NM_001032283.3(TMPO):c.429G>A (p.Glu143=)
NM_001032283.3(TMPO):c.441G>A (p.Leu147=) rs2121195450
NM_001032283.3(TMPO):c.443A>G (p.Lys148Arg) rs2121195483
NM_001032283.3(TMPO):c.460A>C (p.Thr154Pro)
NM_001032283.3(TMPO):c.462A>G (p.Thr154=) rs2121195654
NM_001032283.3(TMPO):c.471A>G (p.Arg157=)
NM_001032283.3(TMPO):c.472TCT[1] (p.Ser159del)
NM_001032283.3(TMPO):c.478A>C (p.Thr160Pro) rs770948908
NM_001032283.3(TMPO):c.478_480del (p.Thr160del)
NM_001032283.3(TMPO):c.479C>T (p.Thr160Ile)
NM_001032283.3(TMPO):c.482C>A (p.Pro161His)
NM_001032283.3(TMPO):c.482C>T (p.Pro161Leu) rs1877210566
NM_001032283.3(TMPO):c.485T>A (p.Leu162Gln)
NM_001032283.3(TMPO):c.485T>G (p.Leu162Arg) rs2121195897
NM_001032283.3(TMPO):c.48G>A (p.Leu16=) rs2121092959
NM_001032283.3(TMPO):c.493A>G (p.Ile165Val)
NM_001032283.3(TMPO):c.503CAG[1] (p.Ala169del)
NM_001032283.3(TMPO):c.506C>G (p.Ala169Gly)
NM_001032283.3(TMPO):c.519G>A (p.Arg173=)
NM_001032283.3(TMPO):c.528A>G (p.Gly176=)
NM_001032283.3(TMPO):c.52A>G (p.Ser18Gly) rs2121093002
NM_001032283.3(TMPO):c.565+1005A>G
NM_001032283.3(TMPO):c.565+1007A>G
NM_001032283.3(TMPO):c.565+1017A>G
NM_001032283.3(TMPO):c.565+1018C>G
NM_001032283.3(TMPO):c.565+1026A>G rs1447801243
NM_001032283.3(TMPO):c.565+1033C>T rs747066370
NM_001032283.3(TMPO):c.565+1048G>A rs1877293542
NM_001032283.3(TMPO):c.565+1048G>C
NM_001032283.3(TMPO):c.565+1062_565+1063delinsTT
NM_001032283.3(TMPO):c.565+1069G>A
NM_001032283.3(TMPO):c.565+1106C>A rs757659026
NM_001032283.3(TMPO):c.565+1108G>A
NM_001032283.3(TMPO):c.565+1114C>T rs754944353
NM_001032283.3(TMPO):c.565+1120G>C
NM_001032283.3(TMPO):c.565+1127C>G rs777779709
NM_001032283.3(TMPO):c.565+1127C>T rs777779709
NM_001032283.3(TMPO):c.565+1128G>T
NM_001032283.3(TMPO):c.565+1154T>C
NM_001032283.3(TMPO):c.565+1161A>G rs2121202826
NM_001032283.3(TMPO):c.565+1168A>T rs370585407
NM_001032283.3(TMPO):c.565+1179G>T
NM_001032283.3(TMPO):c.565+1199C>T rs2121203040
NM_001032283.3(TMPO):c.565+1220G>A
NM_001032283.3(TMPO):c.565+1257T>C rs1877309895
NM_001032283.3(TMPO):c.565+1260A>C rs779869644
NM_001032283.3(TMPO):c.565+1272del
NM_001032283.3(TMPO):c.565+1273A>G rs146158243
NM_001032283.3(TMPO):c.565+1279G>A
NM_001032283.3(TMPO):c.565+1302T>C
NM_001032283.3(TMPO):c.565+1312C>G
NM_001032283.3(TMPO):c.565+1319C>T rs780889526
NM_001032283.3(TMPO):c.565+1320A>C rs747613142
NM_001032283.3(TMPO):c.565+1334C>T
NM_001032283.3(TMPO):c.565+1361T>G rs185083543
NM_001032283.3(TMPO):c.565+1362_565+1363insTCA rs755623404
NM_001032283.3(TMPO):c.565+1372C>T
NM_001032283.3(TMPO):c.565+1374A>C rs760685984
NM_001032283.3(TMPO):c.565+1378G>A
NM_001032283.3(TMPO):c.565+1382C>T rs2121204053
NM_001032283.3(TMPO):c.565+1420A>G
NM_001032283.3(TMPO):c.565+1439A>C rs1877327751
NM_001032283.3(TMPO):c.565+1448G>A rs1877328100
NM_001032283.3(TMPO):c.565+1467C>G rs200124801
NM_001032283.3(TMPO):c.565+1467C>T rs200124801
NM_001032283.3(TMPO):c.565+1474C>T
NM_001032283.3(TMPO):c.565+1474CT[2] rs1359210478
NM_001032283.3(TMPO):c.565+1508_565+1509del
NM_001032283.3(TMPO):c.565+1532G>T
NM_001032283.3(TMPO):c.565+1536_565+1543del
NM_001032283.3(TMPO):c.565+1548A>G rs779658294
NM_001032283.3(TMPO):c.565+1575G>A rs1060502980
NM_001032283.3(TMPO):c.565+1584G>A rs147002330
NM_001032283.3(TMPO):c.565+1584G>C rs147002330
NM_001032283.3(TMPO):c.565+1584G>T
NM_001032283.3(TMPO):c.565+1587G>A
NM_001032283.3(TMPO):c.565+1590G>A
NM_001032283.3(TMPO):c.565+1595T>G
NM_001032283.3(TMPO):c.565+1609C>G
NM_001032283.3(TMPO):c.565+1611A>C
NM_001032283.3(TMPO):c.565+1613C>T
NM_001032283.3(TMPO):c.565+1633T>C
NM_001032283.3(TMPO):c.565+1637A>G
NM_001032283.3(TMPO):c.565+1643A>G
NM_001032283.3(TMPO):c.565+1688G>T rs577869374
NM_001032283.3(TMPO):c.565+1692C>A rs879040481
NM_001032283.3(TMPO):c.565+1692C>T rs879040481
NM_001032283.3(TMPO):c.565+1708C>T
NM_001032283.3(TMPO):c.565+1724G>C
NM_001032283.3(TMPO):c.565+1725T>A
NM_001032283.3(TMPO):c.565+1774C>G rs762576951
NM_001032283.3(TMPO):c.565+1781C>T
NM_001032283.3(TMPO):c.565+1782G>A rs763388598
NM_001032283.3(TMPO):c.565+1790G>A
NM_001032283.3(TMPO):c.565+1795C>A rs1877361719
NM_001032283.3(TMPO):c.565+1807C>G
NM_001032283.3(TMPO):c.565+1808T>C
NM_001032283.3(TMPO):c.565+1813TC[2] rs1877364478
NM_001032283.3(TMPO):c.565+1814C>G
NM_001032283.3(TMPO):c.565+1817T>C
NM_001032283.3(TMPO):c.565+1826C>T
NM_001032283.3(TMPO):c.565+1872A>G rs1060502979
NM_001032283.3(TMPO):c.565+1873T>C rs1238424266
NM_001032283.3(TMPO):c.565+1878G>A rs1877372287
NM_001032283.3(TMPO):c.565+1880C>A rs1351997207
NM_001032283.3(TMPO):c.565+1905G>T rs2121207714
NM_001032283.3(TMPO):c.565+1928del rs1442448525
NM_001032283.3(TMPO):c.565+1932G>A
NM_001032283.3(TMPO):c.565+1935T>C
NM_001032283.3(TMPO):c.565+1956C>T
NM_001032283.3(TMPO):c.565+1958G>A
NM_001032283.3(TMPO):c.565+1964A>C
NM_001032283.3(TMPO):c.565+1983del
NM_001032283.3(TMPO):c.565+1995G>A
NM_001032283.3(TMPO):c.565+19T>C
NM_001032283.3(TMPO):c.565+2002C>T rs2121208214
NM_001032283.3(TMPO):c.565+2014C>G rs2121208283
NM_001032283.3(TMPO):c.565+2019C>A rs764610443
NM_001032283.3(TMPO):c.565+2022A>G
NM_001032283.3(TMPO):c.565+2026T>C rs1555203926
NM_001032283.3(TMPO):c.565+2029A>G
NM_001032283.3(TMPO):c.565+2044G>T
NM_001032283.3(TMPO):c.565+2058G>T
NM_001032283.3(TMPO):c.565+2067C>G rs745484180
NM_001032283.3(TMPO):c.565+2085G>A
NM_001032283.3(TMPO):c.565+2099T>C
NM_001032283.3(TMPO):c.565+2101G>A rs774064196
NM_001032283.3(TMPO):c.565+2101G>T
NM_001032283.3(TMPO):c.565+2102C>A rs764177808
NM_001032283.3(TMPO):c.565+2128G>A
NM_001032283.3(TMPO):c.565+2135A>G rs1284474609
NM_001032283.3(TMPO):c.565+2169A>G
NM_001032283.3(TMPO):c.565+2170C>G
NM_001032283.3(TMPO):c.565+2170C>T
NM_001032283.3(TMPO):c.565+2172C>T rs1565812072
NM_001032283.3(TMPO):c.565+2173A>T
NM_001032283.3(TMPO):c.565+2175A>G rs1877399544
NM_001032283.3(TMPO):c.565+2175_565+2176del
NM_001032283.3(TMPO):c.565+2179C>T
NM_001032283.3(TMPO):c.565+2180C>T
NM_001032283.3(TMPO):c.565+2192G>A
NM_001032283.3(TMPO):c.565+2197T>C rs1877401842
NM_001032283.3(TMPO):c.565+2210T>C
NM_001032283.3(TMPO):c.565+2219T>G
NM_001032283.3(TMPO):c.565+2220G>A
NM_001032283.3(TMPO):c.565+2222A>C
NM_001032283.3(TMPO):c.565+2229C>G
NM_001032283.3(TMPO):c.565+2247C>G rs369379490
NM_001032283.3(TMPO):c.565+2251C>T
NM_001032283.3(TMPO):c.565+2261G>A rs373227285
NM_001032283.3(TMPO):c.565+2261G>C
NM_001032283.3(TMPO):c.565+2261G>T rs373227285
NM_001032283.3(TMPO):c.565+2271C>T
NM_001032283.3(TMPO):c.565+2280A>G rs1877412049
NM_001032283.3(TMPO):c.565+2281C>T rs1877412433
NM_001032283.3(TMPO):c.565+2284_565+2285del rs767209319
NM_001032283.3(TMPO):c.565+2292G>A
NM_001032283.3(TMPO):c.565+2297A>G
NM_001032283.3(TMPO):c.565+2299A>G rs766232053
NM_001032283.3(TMPO):c.565+2300T>C
NM_001032283.3(TMPO):c.565+2315A>G
NM_001032283.3(TMPO):c.565+2339C>G rs749772850
NM_001032283.3(TMPO):c.565+2340C>G rs1877418406
NM_001032283.3(TMPO):c.565+2340C>T
NM_001032283.3(TMPO):c.565+2346A>G rs1565812255
NM_001032283.3(TMPO):c.565+2353A>G rs1335078305
NM_001032283.3(TMPO):c.565+2357C>T
NM_001032283.3(TMPO):c.565+2362T>C
NM_001032283.3(TMPO):c.565+2367C>G
NM_001032283.3(TMPO):c.565+2369_565+2371del rs755715445
NM_001032283.3(TMPO):c.565+2381G>C rs1877422962
NM_001032283.3(TMPO):c.565+2397A>T
NM_001032283.3(TMPO):c.565+2402T>C rs1592947011
NM_001032283.3(TMPO):c.565+2412A>T
NM_001032283.3(TMPO):c.565+2421C>T rs2121211142
NM_001032283.3(TMPO):c.565+2425C>T rs1268085556
NM_001032283.3(TMPO):c.565+2426T>C rs1877426910
NM_001032283.3(TMPO):c.565+2460G>A
NM_001032283.3(TMPO):c.565+2461_565+2463del rs727503491
NM_001032283.3(TMPO):c.565+2472A>C rs1877431244
NM_001032283.3(TMPO):c.565+2474A>C rs2121211551
NM_001032283.3(TMPO):c.565+2481A>G
NM_001032283.3(TMPO):c.565+995A>C
NM_001032283.3(TMPO):c.565+995_565+998del rs747695132
NM_001032283.3(TMPO):c.565+9T>G
NM_001032283.3(TMPO):c.5C>T (p.Pro2Leu)
NM_001032283.3(TMPO):c.63C>A (p.Val21=)
NM_001032283.3(TMPO):c.66C>T (p.Ala22=) rs1875748424
NM_001999.4(FBN2):c.1007A>G (p.Asn336Ser) rs1752993803
NM_001999.4(FBN2):c.1012G>T (p.Val338Leu)
NM_001999.4(FBN2):c.1014G>A (p.Val338=)
NM_001999.4(FBN2):c.1018A>G (p.Ser340Gly)
NM_001999.4(FBN2):c.1019G>A (p.Ser340Asn)
NM_001999.4(FBN2):c.102G>A (p.Pro34=)
NM_001999.4(FBN2):c.1030G>T (p.Val344Phe)
NM_001999.4(FBN2):c.1038A>G (p.Pro346=)
NM_001999.4(FBN2):c.104C>T (p.Pro35Leu) rs2112810970
NM_001999.4(FBN2):c.1053C>T (p.Thr351=) rs1554067080
NM_001999.4(FBN2):c.1061A>T (p.Asp354Val)
NM_001999.4(FBN2):c.1069C>T (p.Arg357Ter) rs1752991946
NM_001999.4(FBN2):c.1072T>C (p.Cys358Arg)
NM_001999.4(FBN2):c.1075A>G (p.Ile359Val)
NM_001999.4(FBN2):c.1078+10G>A
NM_001999.4(FBN2):c.1078+5G>A rs1752991507
NM_001999.4(FBN2):c.1078+9C>G rs371692018
NM_001999.4(FBN2):c.1078G>C (p.Asp360His)
NM_001999.4(FBN2):c.1079-7T>C
NM_001999.4(FBN2):c.1079-9C>T
NM_001999.4(FBN2):c.107A>G (p.Lys36Arg)
NM_001999.4(FBN2):c.10A>G (p.Arg4Gly)
NM_001999.4(FBN2):c.1107C>T (p.Gly369=) rs1060503505
NM_001999.4(FBN2):c.1119C>A (p.Gly373=) rs1554066145
NM_001999.4(FBN2):c.111G>C (p.Pro37=)
NM_001999.4(FBN2):c.1121G>A (p.Arg374His)
NM_001999.4(FBN2):c.112C>T (p.Pro38Ser)
NM_001999.4(FBN2):c.1145G>C (p.Arg382Thr)
NM_001999.4(FBN2):c.1156A>G (p.Met386Val)
NM_001999.4(FBN2):c.115C>A (p.Arg39=) rs763202121
NM_001999.4(FBN2):c.116_130dup (p.Pro43_Pro44insArgProGlnProPro)
NM_001999.4(FBN2):c.117G>T (p.Arg39=)
NM_001999.4(FBN2):c.117del (p.Gln41fs)
NM_001999.4(FBN2):c.1189G>A (p.Gly397Ser)
NM_001999.4(FBN2):c.118C>T (p.Pro40Ser) rs2112810915
NM_001999.4(FBN2):c.1194C>A (p.Ile398=)
NM_001999.4(FBN2):c.1200C>A (p.Thr400=)
NM_001999.4(FBN2):c.1209dup (p.Ala404fs) rs1752614082
NM_001999.4(FBN2):c.120C>T (p.Pro40=)
NM_001999.4(FBN2):c.1231+12G>A
NM_001999.4(FBN2):c.1231+15G>A
NM_001999.4(FBN2):c.1231+19G>A
NM_001999.4(FBN2):c.1232-6T>C rs1581260490
NM_001999.4(FBN2):c.1232-8T>C
NM_001999.4(FBN2):c.1236A>G (p.Glu412=)
NM_001999.4(FBN2):c.1241G>A (p.Arg414His)
NM_001999.4(FBN2):c.1275A>T (p.Gly425=)
NM_001999.4(FBN2):c.1278T>G (p.Ile426Met) rs1752569770
NM_001999.4(FBN2):c.1280C>T (p.Pro427Leu)
NM_001999.4(FBN2):c.1281A>G (p.Pro427=)
NM_001999.4(FBN2):c.1288G>T (p.Ala430Ser)
NM_001999.4(FBN2):c.1295C>A (p.Ser432Tyr)
NM_001999.4(FBN2):c.1316del (p.Gly439fs)
NM_001999.4(FBN2):c.132G>A (p.Pro44=) rs199702573
NM_001999.4(FBN2):c.132G>T (p.Pro44=)
NM_001999.4(FBN2):c.1330C>G (p.Pro444Ala)
NM_001999.4(FBN2):c.1340A>G (p.Asn447Ser) rs1554066013
NM_001999.4(FBN2):c.134A>C (p.Gln45Pro)
NM_001999.4(FBN2):c.134A>T (p.Gln45Leu) rs774411616
NM_001999.4(FBN2):c.1351_1356del (p.Tyr451_Gly452del) rs730880109
NM_001999.4(FBN2):c.135A>G (p.Gln45=) rs1182394348
NM_001999.4(FBN2):c.1364G>A (p.Gly455Glu)
NM_001999.4(FBN2):c.1364G>C (p.Gly455Ala)
NM_001999.4(FBN2):c.1380C>T (p.Pro460=)
NM_001999.4(FBN2):c.1382T>A (p.Ile461Asn)
NM_001999.4(FBN2):c.1386T>C (p.Pro462=) rs778468050
NM_001999.4(FBN2):c.1398C>T (p.Gly466=) rs1554066010
NM_001999.4(FBN2):c.1411G>C (p.Val471Leu) rs138046782
NM_001999.4(FBN2):c.1421C>G (p.Ala474Gly)
NM_001999.4(FBN2):c.1423G>C (p.Gly475Arg) rs200440156
NM_001999.4(FBN2):c.1437G>A (p.Gly479=)
NM_001999.4(FBN2):c.1438G>A (p.Gly480Arg)
NM_001999.4(FBN2):c.1439G>A (p.Gly480Glu)
NM_001999.4(FBN2):c.1443G>A (p.Gln481=) rs923812426
NM_001999.4(FBN2):c.1443G>C (p.Gln481His) rs923812426
NM_001999.4(FBN2):c.1452C>T (p.Ile484=)
NM_001999.4(FBN2):c.1456A>T (p.Thr486Ser)
NM_001999.4(FBN2):c.1458T>A (p.Thr486=)
NM_001999.4(FBN2):c.1465+17C>T
NM_001999.4(FBN2):c.1466-12A>G
NM_001999.4(FBN2):c.1466-17G>T rs2126977471
NM_001999.4(FBN2):c.1466-19G>T
NM_001999.4(FBN2):c.1466-5del
NM_001999.4(FBN2):c.1473G>C (p.Leu491=)
NM_001999.4(FBN2):c.147C>A (p.Ser49=)
NM_001999.4(FBN2):c.147C>T (p.Ser49=) rs1194404343
NM_001999.4(FBN2):c.1489A>G (p.Ile497Val)
NM_001999.4(FBN2):c.1490T>C (p.Ile497Thr)
NM_001999.4(FBN2):c.1491C>G (p.Ile497Met) rs1158937805
NM_001999.4(FBN2):c.1500T>G (p.His500Gln)
NM_001999.4(FBN2):c.1512T>G (p.Leu504=)
NM_001999.4(FBN2):c.1526G>A (p.Arg509His) rs199587570
NM_001999.4(FBN2):c.152C>G (p.Thr51Arg) rs1060503509
NM_001999.4(FBN2):c.1537A>G (p.Thr513Ala)
NM_001999.4(FBN2):c.1543T>A (p.Ser515Thr) rs528255772
NM_001999.4(FBN2):c.1567A>G (p.Met523Val)
NM_001999.4(FBN2):c.1586C>A (p.Ala529Glu)
NM_001999.4(FBN2):c.1589A>G (p.Asn530Ser)
NM_001999.4(FBN2):c.1600A>G (p.Ile534Val) rs1752527949
NM_001999.4(FBN2):c.1601T>C (p.Ile534Thr) rs762032979
NM_001999.4(FBN2):c.1603+15C>G
NM_001999.4(FBN2):c.1603+19A>G
NM_001999.4(FBN2):c.1603+6T>C rs1752527763
NM_001999.4(FBN2):c.1603+9G>C rs774984154
NM_001999.4(FBN2):c.1604-1G>A
NM_001999.4(FBN2):c.1604-7C>T rs2126960298
NM_001999.4(FBN2):c.1604-8G>C
NM_001999.4(FBN2):c.1612G>A (p.Glu538Lys) rs1561427124
NM_001999.4(FBN2):c.1614A>G (p.Glu538=)
NM_001999.4(FBN2):c.1616G>T (p.Cys539Phe) rs1456682417
NM_001999.4(FBN2):c.161C>T (p.Ser54Phe)
NM_001999.4(FBN2):c.1624A>G (p.Asn542Asp) rs781622385
NM_001999.4(FBN2):c.1626T>A (p.Asn542Lys) rs2126960231
NM_001999.4(FBN2):c.162T>G (p.Ser54=)
NM_001999.4(FBN2):c.1637A>C (p.Asn546Thr)
NM_001999.4(FBN2):c.1642G>T (p.Asp548Tyr) rs1581251809
NM_001999.4(FBN2):c.1644T>C (p.Asp548=)
NM_001999.4(FBN2):c.1658C>G (p.Pro553Arg) rs2126960181
NM_001999.4(FBN2):c.1660G>C (p.Gly554Arg) rs1283833434
NM_001999.4(FBN2):c.1662T>C (p.Gly554=) rs1400948280
NM_001999.4(FBN2):c.1681C>T (p.His561Tyr) rs2126960142
NM_001999.4(FBN2):c.1686T>G (p.Ala562=) rs1581251758
NM_001999.4(FBN2):c.169G>T (p.Gly57Trp) rs2112810796
NM_001999.4(FBN2):c.16A>T (p.Arg6Trp)
NM_001999.4(FBN2):c.1717T>C (p.Cys573Arg) rs376737293
NM_001999.4(FBN2):c.1723+12T>G
NM_001999.4(FBN2):c.1723+3A>G rs2126960065
NM_001999.4(FBN2):c.1724-14C>A
NM_001999.4(FBN2):c.1724-2A>G rs876661172
NM_001999.4(FBN2):c.1729G>A (p.Asp577Asn) rs1230736233
NM_001999.4(FBN2):c.1759A>G (p.Lys587Glu)
NM_001999.4(FBN2):c.175C>T (p.Leu59=)
NM_001999.4(FBN2):c.1760A>G (p.Lys587Arg) rs759733025
NM_001999.4(FBN2):c.1773C>T (p.Cys591=) rs763629454
NM_001999.4(FBN2):c.1780A>G (p.Thr594Ala) rs1554064868
NM_001999.4(FBN2):c.1784A>T (p.Asp595Val)
NM_001999.4(FBN2):c.1797G>A (p.Gln599=)
NM_001999.4(FBN2):c.1797G>T (p.Gln599His)
NM_001999.4(FBN2):c.1804del (p.Cys602fs) rs886038824
NM_001999.4(FBN2):c.1814G>T (p.Gly605Val) rs1581250994
NM_001999.4(FBN2):c.1831G>A (p.Asp611Asn)
NM_001999.4(FBN2):c.1844G>T (p.Cys615Phe) rs1060503507
NM_001999.4(FBN2):c.1849+20C>T
NM_001999.4(FBN2):c.1862G>A (p.Cys621Tyr) rs1752093236
NM_001999.4(FBN2):c.1888G>A (p.Gly630Arg) rs1060503499
NM_001999.4(FBN2):c.189T>C (p.Tyr63=) rs1435288732
NM_001999.4(FBN2):c.18G>A (p.Arg6=)
NM_001999.4(FBN2):c.18G>T (p.Arg6Ser)
NM_001999.4(FBN2):c.1901A>G (p.Asn634Ser) rs748715881
NM_001999.4(FBN2):c.1917C>T (p.Phe639=)
NM_001999.4(FBN2):c.193G>C (p.Glu65Gln) rs1561504900
NM_001999.4(FBN2):c.1943T>C (p.Val648Ala)
NM_001999.4(FBN2):c.1954A>C (p.Asn652His) rs749765413
NM_001999.4(FBN2):c.1954A>G (p.Asn652Asp)
NM_001999.4(FBN2):c.1959G>T (p.Gly653=)
NM_001999.4(FBN2):c.1960C>T (p.Arg654Cys)
NM_001999.4(FBN2):c.1972+10G>T
NM_001999.4(FBN2):c.1972+4TG[2]
NM_001999.4(FBN2):c.1973-8C>A
NM_001999.4(FBN2):c.1973-9A>T
NM_001999.4(FBN2):c.1988A>C (p.Gln663Pro) rs863223556
NM_001999.4(FBN2):c.1990A>G (p.Thr664Ala) rs746408145
NM_001999.4(FBN2):c.1991C>T (p.Thr664Ile) rs2126954772
NM_001999.4(FBN2):c.1995A>G (p.Pro665=)
NM_001999.4(FBN2):c.2014C>T (p.His672Tyr)
NM_001999.4(FBN2):c.2030A>G (p.Glu677Gly) rs2126954710
NM_001999.4(FBN2):c.2034G>T (p.Gly678=) rs1357250229
NM_001999.4(FBN2):c.2042G>T (p.Arg681Leu) rs548605398
NM_001999.4(FBN2):c.2045G>A (p.Cys682Tyr) rs1752034896
NM_001999.4(FBN2):c.2049C>T (p.Asp683=)
NM_001999.4(FBN2):c.2053C>A (p.Pro685Thr) rs141291125
NM_001999.4(FBN2):c.2054C>T (p.Pro685Leu) rs1581249148
NM_001999.4(FBN2):c.2056C>T (p.Pro686Ser) rs1752034485
NM_001999.4(FBN2):c.2060G>A (p.Gly687Asp)
NM_001999.4(FBN2):c.2065_2066delinsAA (p.Ala689Asn) rs869025430
NM_001999.4(FBN2):c.2066C>G (p.Ala689Gly) rs781745158
NM_001999.4(FBN2):c.206C>T (p.Ala69Val) rs1756883252
NM_001999.4(FBN2):c.2081G>C (p.Gly694Ala)
NM_001999.4(FBN2):c.2089T>C (p.Cys697Arg)
NM_001999.4(FBN2):c.208G>C (p.Val70Leu) rs1756883199
NM_001999.4(FBN2):c.2092G>T (p.Val698Phe)
NM_001999.4(FBN2):c.2095+1G>A
NM_001999.4(FBN2):c.2095+2_2095+7del rs1752033073
NM_001999.4(FBN2):c.2095+5G>A rs2126954577
NM_001999.4(FBN2):c.2095+8A>T
NM_001999.4(FBN2):c.2098A>G (p.Thr700Ala)
NM_001999.4(FBN2):c.209T>A (p.Val70Glu)
NM_001999.4(FBN2):c.2103C>T (p.His701=) rs148920354
NM_001999.4(FBN2):c.2107C>T (p.Arg703Cys) rs748861935
NM_001999.4(FBN2):c.2108G>T (p.Arg703Leu)
NM_001999.4(FBN2):c.212C>G (p.Ala71Gly)
NM_001999.4(FBN2):c.2132A>G (p.Lys711Arg) rs1006288282
NM_001999.4(FBN2):c.2140G>A (p.Val714Met)
NM_001999.4(FBN2):c.2150G>A (p.Arg717His)
NM_001999.4(FBN2):c.2161G>A (p.Gly721Ser) rs149733159
NM_001999.4(FBN2):c.2161G>C (p.Gly721Arg) rs149733159
NM_001999.4(FBN2):c.2164G>T (p.Ala722Ser)
NM_001999.4(FBN2):c.216C>T (p.Ser72=)
NM_001999.4(FBN2):c.2171C>T (p.Thr724Ile)
NM_001999.4(FBN2):c.2175G>C (p.Lys725Asn) rs2126947449
NM_001999.4(FBN2):c.2187C>T (p.Cys729=)
NM_001999.4(FBN2):c.21G>A (p.Leu7=) rs1002853093
NM_001999.4(FBN2):c.2227C>T (p.Pro743Ser) rs1554064242
NM_001999.4(FBN2):c.2236G>A (p.Ala746Thr)
NM_001999.4(FBN2):c.2248+11G>C
NM_001999.4(FBN2):c.2248+4G>A rs752467521
NM_001999.4(FBN2):c.2249-15C>T
NM_001999.4(FBN2):c.2249-18T>C rs996601598
NM_001999.4(FBN2):c.2260G>C (p.Gly754Arg) rs145259927
NM_001999.4(FBN2):c.2302+16C>A
NM_001999.4(FBN2):c.2302+9A>G
NM_001999.4(FBN2):c.2303-18T>G
NM_001999.4(FBN2):c.2303-2A>G rs1751723379
NM_001999.4(FBN2):c.2326C>T (p.Pro776Ser)
NM_001999.4(FBN2):c.2329G>A (p.Asp777Asn)
NM_001999.4(FBN2):c.2334A>G (p.Ile778Met)
NM_001999.4(FBN2):c.2335T>C (p.Cys779Arg) rs1751722668
NM_001999.4(FBN2):c.2340C>T (p.Ala780=) rs1060504935
NM_001999.4(FBN2):c.2356A>C (p.Asn786His)
NM_001999.4(FBN2):c.2359T>A (p.Leu787Ile) rs756348656
NM_001999.4(FBN2):c.2359T>C (p.Leu787=)
NM_001999.4(FBN2):c.2365G>C (p.Gly789Arg) rs886038969
NM_001999.4(FBN2):c.2367T>C (p.Gly789=)
NM_001999.4(FBN2):c.2376T>C (p.Arg792=)
NM_001999.4(FBN2):c.2384G>A (p.Cys795Tyr) rs1057524398
NM_001999.4(FBN2):c.239A>G (p.Gln80Arg)
NM_001999.4(FBN2):c.2406T>A (p.Asp802Glu) rs568169177
NM_001999.4(FBN2):c.2406T>G (p.Asp802Glu) rs568169177
NM_001999.4(FBN2):c.2428+12G>T
NM_001999.4(FBN2):c.2428+18T>C rs775383249
NM_001999.4(FBN2):c.2428+1G>T rs1751719964
NM_001999.4(FBN2):c.2429-17T>G
NM_001999.4(FBN2):c.2429-1G>A rs1270553787
NM_001999.4(FBN2):c.2433T>A (p.Ile811=)
NM_001999.4(FBN2):c.2436T>C (p.Asp812=)
NM_001999.4(FBN2):c.2439A>G (p.Glu813=) rs1581241374
NM_001999.4(FBN2):c.2457G>A (p.Leu819=) rs370465689
NM_001999.4(FBN2):c.2457G>T (p.Leu819=)
NM_001999.4(FBN2):c.2466T>C (p.Asp822=)
NM_001999.4(FBN2):c.2473T>C (p.Leu825=)
NM_001999.4(FBN2):c.2475G>T (p.Leu825Phe)
NM_001999.4(FBN2):c.2486C>T (p.Thr829Met)
NM_001999.4(FBN2):c.2487G>A (p.Thr829=) rs779455710
NM_001999.4(FBN2):c.2492G>A (p.Gly831Glu) rs2126937089
NM_001999.4(FBN2):c.2506A>T (p.Thr836Ser)
NM_001999.4(FBN2):c.2507C>T (p.Thr836Met) rs957177447
NM_001999.4(FBN2):c.2515C>A (p.Pro839Thr) rs751263399
NM_001999.4(FBN2):c.251G>A (p.Arg84Gln) rs747084358
NM_001999.4(FBN2):c.251G>C (p.Arg84Pro)
NM_001999.4(FBN2):c.2530A>G (p.Arg844Gly)
NM_001999.4(FBN2):c.2539A>G (p.Thr847Ala) rs878854474
NM_001999.4(FBN2):c.254+10C>G
NM_001999.4(FBN2):c.254+14C>G
NM_001999.4(FBN2):c.254+20C>G
NM_001999.4(FBN2):c.254+5G>A
NM_001999.4(FBN2):c.2554+5G>T rs2126936993
NM_001999.4(FBN2):c.2555-20C>G
NM_001999.4(FBN2):c.2556T>C (p.Asp852=) rs2126931519
NM_001999.4(FBN2):c.2557A>C (p.Ile853Leu) rs148598779
NM_001999.4(FBN2):c.2557A>G (p.Ile853Val) rs148598779
NM_001999.4(FBN2):c.256C>T (p.Pro86Ser)
NM_001999.4(FBN2):c.2572A>G (p.Ser858Gly)
NM_001999.4(FBN2):c.2588A>G (p.Asn863Ser)
NM_001999.4(FBN2):c.2592G>A (p.Gly864=)
NM_001999.4(FBN2):c.259A>G (p.Asn87Asp) rs756569459
NM_001999.4(FBN2):c.2606A>C (p.Asn869Thr)
NM_001999.4(FBN2):c.2611G>C (p.Gly871Arg) rs1751526889
NM_001999.4(FBN2):c.2615C>A (p.Ser872Tyr)
NM_001999.4(FBN2):c.2621A>G (p.Asn874Ser)
NM_001999.4(FBN2):c.262G>C (p.Val88Leu)
NM_001999.4(FBN2):c.2631T>C (p.Cys877=)
NM_001999.4(FBN2):c.2633C>T (p.Ser878Leu)
NM_001999.4(FBN2):c.2634G>T (p.Ser878=) rs143905167
NM_001999.4(FBN2):c.2639G>A (p.Gly880Asp)
NM_001999.4(FBN2):c.2645A>G (p.Lys882Arg) rs1168151418
NM_001999.4(FBN2):c.2646A>G (p.Lys882=) rs1035674949
NM_001999.4(FBN2):c.2648T>A (p.Leu883His)
NM_001999.4(FBN2):c.264G>T (p.Val88=) rs1167442198
NM_001999.4(FBN2):c.2674+6A>T rs1381952326
NM_001999.4(FBN2):c.2674+9del rs2126931306
NM_001999.4(FBN2):c.2675-20C>T
NM_001999.4(FBN2):c.2676C>G (p.Asp892Glu)
NM_001999.4(FBN2):c.2679C>G (p.Ser893Arg) rs778473524
NM_001999.4(FBN2):c.2694T>C (p.Cys898=)
NM_001999.4(FBN2):c.2701A>G (p.Asn901Asp)
NM_001999.4(FBN2):c.2719T>C (p.Cys907Arg) rs863223599
NM_001999.4(FBN2):c.2725G>A (p.Val909Met)
NM_001999.4(FBN2):c.2735A>G (p.Asn912Ser)
NM_001999.4(FBN2):c.2736T>C (p.Asn912=) rs760088310
NM_001999.4(FBN2):c.2740G>T (p.Ala914Ser) rs370312107
NM_001999.4(FBN2):c.2773G>A (p.Gly925Arg) rs111405756
NM_001999.4(FBN2):c.2773G>T (p.Gly925Ter) rs111405756
NM_001999.4(FBN2):c.2779G>T (p.Ala927Ser) rs863223559
NM_001999.4(FBN2):c.2782T>G (p.Trp928Gly)
NM_001999.4(FBN2):c.2787G>A (p.Gly929=)
NM_001999.4(FBN2):c.2791C>T (p.Pro931Ser) rs779579749
NM_001999.4(FBN2):c.2800C>T (p.Arg934Trp)
NM_001999.4(FBN2):c.2809C>G (p.Leu937Val)
NM_001999.4(FBN2):c.2812+14T>C
NM_001999.4(FBN2):c.2812+9C>A rs751293821
NM_001999.4(FBN2):c.2813A>G (p.Asp938Gly)
NM_001999.4(FBN2):c.2819C>T (p.Ala940Val) rs1751304507
NM_001999.4(FBN2):c.2822G>A (p.Cys941Tyr)
NM_001999.4(FBN2):c.2825C>G (p.Pro942Arg) rs1751304438
NM_001999.4(FBN2):c.2827A>G (p.Arg943Gly) rs863223560
NM_001999.4(FBN2):c.282C>T (p.His94=)
NM_001999.4(FBN2):c.2839A>C (p.Arg947=) rs752949752
NM_001999.4(FBN2):c.2839A>G (p.Arg947Gly)
NM_001999.4(FBN2):c.2855C>G (p.Thr952Arg) rs766590294
NM_001999.4(FBN2):c.2856G>A (p.Thr952=) rs556038110
NM_001999.4(FBN2):c.2863+13T>G
NM_001999.4(FBN2):c.2863+19G>A
NM_001999.4(FBN2):c.2863+5G>A
NM_001999.4(FBN2):c.2863+9A>G
NM_001999.4(FBN2):c.2864-15T>C
NM_001999.4(FBN2):c.2864-19T>G rs2126919979
NM_001999.4(FBN2):c.286T>C (p.Tyr96His)
NM_001999.4(FBN2):c.2879A>G (p.Glu960Gly)
NM_001999.4(FBN2):c.287_289del (p.Tyr96del) rs555068280
NM_001999.4(FBN2):c.2882T>A (p.Val961Glu) rs1025184275
NM_001999.4(FBN2):c.2886C>T (p.Phe962=) rs972172170
NM_001999.4(FBN2):c.2890G>T (p.Gly964Cys) rs2126919911
NM_001999.4(FBN2):c.2891G>A (p.Gly964Asp) rs1554124089
NM_001999.4(FBN2):c.2892C>T (p.Gly964=)
NM_001999.4(FBN2):c.2909G>A (p.Arg970His) rs368402648
NM_001999.4(FBN2):c.2909G>T (p.Arg970Leu)
NM_001999.4(FBN2):c.2921_2989+510delinsCATA
NM_001999.4(FBN2):c.2925G>A (p.Lys975=)
NM_001999.4(FBN2):c.2926G>A (p.Gly976Arg) rs1751283602
NM_001999.4(FBN2):c.2931T>C (p.Ser977=)
NM_001999.4(FBN2):c.2945G>A (p.Cys982Tyr) rs1057519321
NM_001999.4(FBN2):c.2945G>T (p.Cys982Phe) rs1057519321
NM_001999.4(FBN2):c.2957T>C (p.Leu986Pro) rs1751282501
NM_001999.4(FBN2):c.295C>G (p.Pro99Ala) rs1756849074
NM_001999.4(FBN2):c.2961G>A (p.Thr987=) rs760390469
NM_001999.4(FBN2):c.2968G>A (p.Gly990Arg) rs749854367
NM_001999.4(FBN2):c.2977C>T (p.Arg993Cys) rs752905724
NM_001999.4(FBN2):c.2989+13C>A
NM_001999.4(FBN2):c.2990-7G>C rs1245936560
NM_001999.4(FBN2):c.2993T>A (p.Ile998Asn)
NM_001999.4(FBN2):c.2994T>A (p.Ile998=)
NM_001999.4(FBN2):c.2996G>A (p.Arg999His) rs1342942240
NM_001999.4(FBN2):c.2997C>T (p.Arg999=) rs1751155993
NM_001999.4(FBN2):c.3003G>C (p.Glu1001Asp) rs1064797312
NM_001999.4(FBN2):c.3010T>C (p.Tyr1004His)
NM_001999.4(FBN2):c.3012C>T (p.Tyr1004=)
NM_001999.4(FBN2):c.3018G>A (p.Lys1006=)
NM_001999.4(FBN2):c.3019T>C (p.Trp1007Arg)
NM_001999.4(FBN2):c.3039C>G (p.Ile1013Met) rs1388119592
NM_001999.4(FBN2):c.3045C>G (p.Pro1015=) rs371640952
NM_001999.4(FBN2):c.3046G>T (p.Val1016Phe)
NM_001999.4(FBN2):c.3049C>A (p.Pro1017Thr) rs375187779
NM_001999.4(FBN2):c.3057G>C (p.Lys1019Asn) rs863223561
NM_001999.4(FBN2):c.3057G>T (p.Lys1019Asn) rs863223561
NM_001999.4(FBN2):c.3058T>C (p.Phe1020Leu) rs984782865
NM_001999.4(FBN2):c.305A>G (p.Lys102Arg) rs1756848859
NM_001999.4(FBN2):c.3062G>A (p.Arg1021His) rs139620380
NM_001999.4(FBN2):c.3062G>C (p.Arg1021Pro) rs139620380
NM_001999.4(FBN2):c.3066G>A (p.Met1022Ile) rs952236163
NM_001999.4(FBN2):c.3092C>A (p.Ala1031Glu) rs754884110
NM_001999.4(FBN2):c.3093G>C (p.Ala1031=) rs528529593
NM_001999.4(FBN2):c.309G>T (p.Thr103=)
NM_001999.4(FBN2):c.3106G>C (p.Glu1036Gln) rs773473369
NM_001999.4(FBN2):c.3107A>G (p.Glu1036Gly)
NM_001999.4(FBN2):c.311T>A (p.Leu104His)
NM_001999.4(FBN2):c.3126A>T (p.Lys1042Asn)
NM_001999.4(FBN2):c.3128C>A (p.Pro1043His)
NM_001999.4(FBN2):c.3145G>C (p.Glu1049Gln) rs771853346
NM_001999.4(FBN2):c.3147G>A (p.Glu1049=) rs1356177204
NM_001999.4(FBN2):c.3148A>C (p.Thr1050Pro)
NM_001999.4(FBN2):c.3160C>T (p.Arg1054Cys) rs869025427
NM_001999.4(FBN2):c.3161G>A (p.Arg1054His) rs753760095
NM_001999.4(FBN2):c.3161G>T (p.Arg1054Leu) rs753760095
NM_001999.4(FBN2):c.3162C>A (p.Arg1054=)
NM_001999.4(FBN2):c.3196dup (p.Thr1066fs) rs1554123702
NM_001999.4(FBN2):c.3198T>G (p.Thr1066=) rs2126913781
NM_001999.4(FBN2):c.319G>A (p.Gly107Arg) rs2112809157
NM_001999.4(FBN2):c.3202C>T (p.Arg1068Trp)
NM_001999.4(FBN2):c.3203G>A (p.Arg1068Gln) rs563921589
NM_001999.4(FBN2):c.3207A>G (p.Pro1069=)
NM_001999.4(FBN2):c.320G>A (p.Gly107Glu)
NM_001999.4(FBN2):c.3211T>C (p.Tyr1071His) rs2126913738
NM_001999.4(FBN2):c.3215A>G (p.Lys1072Arg)
NM_001999.4(FBN2):c.3217+12C>A rs375688726
NM_001999.4(FBN2):c.3217+12C>T
NM_001999.4(FBN2):c.3217+13G>C rs572013507
NM_001999.4(FBN2):c.3217+19C>T
NM_001999.4(FBN2):c.3217+1G>A rs2126913719
NM_001999.4(FBN2):c.3217+6T>C
NM_001999.4(FBN2):c.3217+8C>A rs1554123700
NM_001999.4(FBN2):c.3218-13A>T rs200543836
NM_001999.4(FBN2):c.3218-4T>C
NM_001999.4(FBN2):c.3218-5T>G rs1554123647
NM_001999.4(FBN2):c.3219C>T (p.Asp1073=)
NM_001999.4(FBN2):c.3220A>G (p.Ile1074Val) rs1218249269
NM_001999.4(FBN2):c.3222C>A (p.Ile1074=) rs1345516642
NM_001999.4(FBN2):c.3228A>C (p.Glu1076Asp) rs1751116346
NM_001999.4(FBN2):c.3246G>A (p.Gly1082=)
NM_001999.4(FBN2):c.3259G>C (p.Gly1087Arg) rs1581230766
NM_001999.4(FBN2):c.3260G>A (p.Gly1087Glu) rs1751115198
NM_001999.4(FBN2):c.3285C>T (p.Ser1095=)
NM_001999.4(FBN2):c.3290A>G (p.Lys1097Arg)
NM_001999.4(FBN2):c.3293G>A (p.Cys1098Tyr)
NM_001999.4(FBN2):c.3298T>A (p.Cys1100Ser) rs2126912100
NM_001999.4(FBN2):c.3298T>G (p.Cys1100Gly)
NM_001999.4(FBN2):c.3321C>T (p.Asp1107=)
NM_001999.4(FBN2):c.3322A>G (p.Met1108Val) rs148127874
NM_001999.4(FBN2):c.3331A>G (p.Arg1111Gly) rs1751112929
NM_001999.4(FBN2):c.3335A>G (p.Asn1112Ser)
NM_001999.4(FBN2):c.3343+12C>G
NM_001999.4(FBN2):c.3343+12C>T rs2126911962
NM_001999.4(FBN2):c.3344-12C>T
NM_001999.4(FBN2):c.3344-13C>A
NM_001999.4(FBN2):c.3344-6A>T
NM_001999.4(FBN2):c.3345C>G (p.Asp1115Glu)
NM_001999.4(FBN2):c.3346A>G (p.Ile1116Val)
NM_001999.4(FBN2):c.3351C>G (p.Asp1117Glu)
NM_001999.4(FBN2):c.3352G>A (p.Glu1118Lys) rs1348701377
NM_001999.4(FBN2):c.3354G>A (p.Glu1118=)
NM_001999.4(FBN2):c.3367C>T (p.Pro1123Ser) rs764719151
NM_001999.4(FBN2):c.336C>T (p.Val112=)
NM_001999.4(FBN2):c.337+12G>T rs2112809114
NM_001999.4(FBN2):c.3372C>T (p.Asp1124=)
NM_001999.4(FBN2):c.338-18C>T
NM_001999.4(FBN2):c.338-4A>G rs1756678272
NM_001999.4(FBN2):c.3384T>C (p.Ser1128=)
NM_001999.4(FBN2):c.3387A>G (p.Gly1129=)
NM_001999.4(FBN2):c.338C>T (p.Pro113Leu)
NM_001999.4(FBN2):c.3390C>A (p.Ile1130=)
NM_001999.4(FBN2):c.3398A>G (p.Asn1133Ser) rs2126903780
NM_001999.4(FBN2):c.3413T>G (p.Phe1138Cys)
NM_001999.4(FBN2):c.3421G>A (p.Glu1141Lys)
NM_001999.4(FBN2):c.3424T>G (p.Cys1142Gly) rs1750918931
NM_001999.4(FBN2):c.3428T>C (p.Phe1143Ser) rs1750918793
NM_001999.4(FBN2):c.3437A>G (p.Tyr1146Cys) rs1750918319
NM_001999.4(FBN2):c.3441A>C (p.Glu1147Asp) rs1750918059
NM_001999.4(FBN2):c.3446G>C (p.Gly1149Ala)
NM_001999.4(FBN2):c.3451A>G (p.Met1151Val) rs1042256829
NM_001999.4(FBN2):c.3452T>C (p.Met1151Thr)
NM_001999.4(FBN2):c.3455T>C (p.Met1152Thr)
NM_001999.4(FBN2):c.3456G>A (p.Met1152Ile) rs863223565
NM_001999.4(FBN2):c.3467G>T (p.Cys1156Phe) rs1206843725
NM_001999.4(FBN2):c.3469A>G (p.Met1157Val) rs876661190
NM_001999.4(FBN2):c.3472+1G>A rs1554123136
NM_001999.4(FBN2):c.3472+2T>C rs2126903614
NM_001999.4(FBN2):c.3472+3A>G rs1750917005
NM_001999.4(FBN2):c.3472+9C>T rs372520452
NM_001999.4(FBN2):c.3473-15G>A
NM_001999.4(FBN2):c.3473-16C>T
NM_001999.4(FBN2):c.3474C>T (p.Asp1158=)
NM_001999.4(FBN2):c.3480C>A (p.Asp1160Glu)
NM_001999.4(FBN2):c.3480C>T (p.Asp1160=) rs142323824
NM_001999.4(FBN2):c.3481G>A (p.Glu1161Lys) rs1554123065
NM_001999.4(FBN2):c.3482A>G (p.Glu1161Gly)
NM_001999.4(FBN2):c.3484T>C (p.Cys1162Arg) rs1750894751
NM_001999.4(FBN2):c.3489A>C (p.Glu1163Asp)
NM_001999.4(FBN2):c.3490C>T (p.Arg1164Cys) rs886039059
NM_001999.4(FBN2):c.3491G>A (p.Arg1164His) rs1297011367
NM_001999.4(FBN2):c.3491G>T (p.Arg1164Leu)
NM_001999.4(FBN2):c.349_352del (p.Asn117fs)
NM_001999.4(FBN2):c.3501C>G (p.Leu1167=) rs2126902161
NM_001999.4(FBN2):c.3505T>C (p.Cys1169Arg)
NM_001999.4(FBN2):c.350A>G (p.Asn117Ser) rs1756677980
NM_001999.4(FBN2):c.3515G>A (p.Gly1172Asp) rs931046977
NM_001999.4(FBN2):c.3535G>T (p.Gly1179Cys)
NM_001999.4(FBN2):c.3570G>A (p.Glu1190=) rs2126902008
NM_001999.4(FBN2):c.3584G>C (p.Arg1195Pro)
NM_001999.4(FBN2):c.3593G>A (p.Cys1198Tyr) rs863223567
NM_001999.4(FBN2):c.3594T>G (p.Cys1198Trp)
NM_001999.4(FBN2):c.3597G>C (p.Val1199=)
NM_001999.4(FBN2):c.3598+6T>G
NM_001999.4(FBN2):c.3599-13G>T
NM_001999.4(FBN2):c.360A>T (p.Gly120=)
NM_001999.4(FBN2):c.3611G>T (p.Cys1204Phe) rs2126898748
NM_001999.4(FBN2):c.3614C>A (p.Ser1205Tyr) rs1389689622
NM_001999.4(FBN2):c.3617T>C (p.Leu1206Pro) rs1581224796
NM_001999.4(FBN2):c.3626A>G (p.Asn1209Ser)
NM_001999.4(FBN2):c.3632G>A (p.Cys1211Tyr) rs2126898679
NM_001999.4(FBN2):c.363T>C (p.Asp121=)
NM_001999.4(FBN2):c.3654C>G (p.Asn1218Lys)
NM_001999.4(FBN2):c.3668A>G (p.Tyr1223Cys)
NM_001999.4(FBN2):c.3680G>A (p.Cys1227Tyr) rs1750830797
NM_001999.4(FBN2):c.3689G>C (p.Gly1230Ala) rs1047464870
NM_001999.4(FBN2):c.3690A>T (p.Gly1230=) rs774807410
NM_001999.4(FBN2):c.36C>T (p.Tyr12=) rs1581380471
NM_001999.4(FBN2):c.3710G>A (p.Arg1237His) rs142185964
NM_001999.4(FBN2):c.3711C>T (p.Arg1237=)
NM_001999.4(FBN2):c.3713A>T (p.Gln1238Leu)
NM_001999.4(FBN2):c.3715G>A (p.Gly1239Ser) rs778784375
NM_001999.4(FBN2):c.3719G>A (p.Cys1240Tyr) rs1554122896
NM_001999.4(FBN2):c.3724G>A (p.Asp1242Asn)
NM_001999.4(FBN2):c.3725-15A>G rs587776519
NM_001999.4(FBN2):c.3725-18G>T
NM_001999.4(FBN2):c.3725-3C>T
NM_001999.4(FBN2):c.3727A>G (p.Ile1243Val)
NM_001999.4(FBN2):c.3728T>C (p.Ile1243Thr) rs1306804578
NM_001999.4(FBN2):c.3736T>C (p.Cys1246Arg) rs1554122857
NM_001999.4(FBN2):c.3736T>G (p.Cys1246Gly) rs1554122857
NM_001999.4(FBN2):c.3737G>A (p.Cys1246Tyr)
NM_001999.4(FBN2):c.3758G>A (p.Cys1253Tyr) rs137852825
NM_001999.4(FBN2):c.3761A>G (p.Asp1254Gly) rs1750812827
NM_001999.4(FBN2):c.3769T>G (p.Cys1257Gly) rs1750812513
NM_001999.4(FBN2):c.3770G>A (p.Cys1257Tyr)
NM_001999.4(FBN2):c.3773C>G (p.Thr1258Arg)
NM_001999.4(FBN2):c.3776A>T (p.Asn1259Ile) rs1554122848
NM_001999.4(FBN2):c.3783G>C (p.Glu1261Asp)
NM_001999.4(FBN2):c.3786A>C (p.Gly1262=)
NM_001999.4(FBN2):c.3790T>A (p.Tyr1264Asn)
NM_001999.4(FBN2):c.3803G>C (p.Cys1268Ser) rs1750811749
NM_001999.4(FBN2):c.3803G>T (p.Cys1268Phe) rs1750811749
NM_001999.4(FBN2):c.3815A>C (p.Tyr1272Ser)
NM_001999.4(FBN2):c.382A>G (p.Asn128Asp)
NM_001999.4(FBN2):c.3830A>T (p.Asp1277Val)
NM_001999.4(FBN2):c.3835A>G (p.Arg1279Gly) rs1561776564
NM_001999.4(FBN2):c.3847+5A>G rs1444917250
NM_001999.4(FBN2):c.3848-10G>A rs140017238
NM_001999.4(FBN2):c.3848-10G>T rs140017238
NM_001999.4(FBN2):c.3849C>T (p.Asp1283=) rs983684093
NM_001999.4(FBN2):c.3866A>G (p.Asn1289Ser)
NM_001999.4(FBN2):c.3869A>G (p.Asn1290Ser) rs747182286
NM_001999.4(FBN2):c.3871C>A (p.Pro1291Thr)
NM_001999.4(FBN2):c.3885T>C (p.Asp1295=)
NM_001999.4(FBN2):c.3888C>T (p.Gly1296=)
NM_001999.4(FBN2):c.3889G>T (p.Gly1297Cys) rs755489065
NM_001999.4(FBN2):c.3900C>A (p.Thr1300=)
NM_001999.4(FBN2):c.3900C>T (p.Thr1300=) rs754193286
NM_001999.4(FBN2):c.3909T>C (p.Pro1303=)
NM_001999.4(FBN2):c.3960G>T (p.Met1320Ile) rs1554122803
NM_001999.4(FBN2):c.3967T>C (p.Cys1323Arg)
NM_001999.4(FBN2):c.3967T>G (p.Cys1323Gly) rs1581223990
NM_001999.4(FBN2):c.3973+17A>G
NM_001999.4(FBN2):c.3973+7A>G
NM_001999.4(FBN2):c.3974-19T>A rs112950479
NM_001999.4(FBN2):c.3974-3T>A
NM_001999.4(FBN2):c.3974-7T>G
NM_001999.4(FBN2):c.3974-9A>G
NM_001999.4(FBN2):c.3982G>A (p.Glu1328Lys)
NM_001999.4(FBN2):c.3984A>T (p.Glu1328Asp) rs1394998823
NM_001999.4(FBN2):c.3986G>A (p.Cys1329Tyr) rs1750792792
NM_001999.4(FBN2):c.4002T>C (p.Asn1334=) rs759408247
NM_001999.4(FBN2):c.4017G>A (p.Gly1339=)
NM_001999.4(FBN2):c.4032A>G (p.Thr1344=)
NM_001999.4(FBN2):c.4035G>C (p.Lys1345Asn)
NM_001999.4(FBN2):c.4038A>T (p.Gly1346=)
NM_001999.4(FBN2):c.4040C>T (p.Ser1347Phe)
NM_001999.4(FBN2):c.4042T>C (p.Phe1348Leu)
NM_001999.4(FBN2):c.4044C>T (p.Phe1348=)
NM_001999.4(FBN2):c.4053C>G (p.His1351Gln)
NM_001999.4(FBN2):c.4056T>G (p.Cys1352Trp) rs1479056828
NM_001999.4(FBN2):c.4064G>A (p.Gly1355Asp)
NM_001999.4(FBN2):c.4089A>C (p.Thr1363=)
NM_001999.4(FBN2):c.4090G>C (p.Gly1364Arg) rs1750789808
NM_001999.4(FBN2):c.4099+12G>A
NM_001999.4(FBN2):c.4099+7T>G rs1750789192
NM_001999.4(FBN2):c.4100-11T>C
NM_001999.4(FBN2):c.4100-19A>G
NM_001999.4(FBN2):c.4100-19A>T rs200803675
NM_001999.4(FBN2):c.4100-6T>C
NM_001999.4(FBN2):c.4100-8T>C
NM_001999.4(FBN2):c.4112G>T (p.Cys1371Phe)
NM_001999.4(FBN2):c.4118T>C (p.Ile1373Thr) rs971727405
NM_001999.4(FBN2):c.411A>G (p.Ile137Met)
NM_001999.4(FBN2):c.4127A>G (p.His1376Arg) rs1255550274
NM_001999.4(FBN2):c.4135G>A (p.Asp1379Asn)
NM_001999.4(FBN2):c.4135G>C (p.Asp1379His)
NM_001999.4(FBN2):c.4147T>C (p.Ser1383Pro)
NM_001999.4(FBN2):c.4149A>G (p.Ser1383=)
NM_001999.4(FBN2):c.4151G>A (p.Cys1384Tyr) rs794727560
NM_001999.4(FBN2):c.4177T>C (p.Cys1393Arg)
NM_001999.4(FBN2):c.4184G>A (p.Cys1395Tyr) rs886038935
NM_001999.4(FBN2):c.4198A>G (p.Ile1400Val) rs1750732608
NM_001999.4(FBN2):c.4201G>A (p.Gly1401Arg) rs1554122552
NM_001999.4(FBN2):c.4201G>C (p.Gly1401Arg) rs1554122552
NM_001999.4(FBN2):c.4203A>G (p.Gly1401=)
NM_001999.4(FBN2):c.4222+1G>A rs1060503498
NM_001999.4(FBN2):c.4222+5G>A rs1554122550
NM_001999.4(FBN2):c.4222G>A (p.Asp1408Asn)
NM_001999.4(FBN2):c.4228G>A (p.Asp1410Asn) rs1478574969
NM_001999.4(FBN2):c.4230C>A (p.Asp1410Glu)
NM_001999.4(FBN2):c.4230C>T (p.Asp1410=) rs138289440
NM_001999.4(FBN2):c.4231G>A (p.Glu1411Lys) rs866719857
NM_001999.4(FBN2):c.4244G>T (p.Gly1415Val) rs2126889179
NM_001999.4(FBN2):c.4247C>A (p.Thr1416Asn) rs1750669779
NM_001999.4(FBN2):c.4247C>T (p.Thr1416Ile) rs1750669779
NM_001999.4(FBN2):c.4254G>A (p.Gln1418=)
NM_001999.4(FBN2):c.425G>C (p.Gly142Ala) rs1060503506
NM_001999.4(FBN2):c.4261A>C (p.Ile1421Leu) rs863223607
NM_001999.4(FBN2):c.4268C>T (p.Ala1423Val)
NM_001999.4(FBN2):c.4271A>C (p.Gln1424Pro)
NM_001999.4(FBN2):c.4273T>C (p.Cys1425Arg)
NM_001999.4(FBN2):c.4276G>A (p.Val1426Ile)
NM_001999.4(FBN2):c.4283C>T (p.Thr1428Ile) rs367961012
NM_001999.4(FBN2):c.4285C>A (p.Pro1429Thr) rs1060503511
NM_001999.4(FBN2):c.4289G>A (p.Gly1430Asp)
NM_001999.4(FBN2):c.4292C>T (p.Ser1431Leu)
NM_001999.4(FBN2):c.4300T>G (p.Cys1434Gly)
NM_001999.4(FBN2):c.4301G>A (p.Cys1434Tyr)
NM_001999.4(FBN2):c.4301G>C (p.Cys1434Ser) rs1750667332
NM_001999.4(FBN2):c.4302T>C (p.Cys1434=) rs2126889007
NM_001999.4(FBN2):c.4303G>T (p.Ala1435Ser)
NM_001999.4(FBN2):c.4306T>C (p.Cys1436Arg) rs1060503510
NM_001999.4(FBN2):c.4322C>T (p.Thr1441Ile) rs1750666696
NM_001999.4(FBN2):c.4323T>C (p.Thr1441=)
NM_001999.4(FBN2):c.4340G>A (p.Cys1447Tyr) rs2126888942
NM_001999.4(FBN2):c.4341C>T (p.Cys1447=)
NM_001999.4(FBN2):c.4345+19G>A rs886038503
NM_001999.4(FBN2):c.4346-16T>A
NM_001999.4(FBN2):c.4346-2A>G rs587776518
NM_001999.4(FBN2):c.434C>A (p.Ser145Ter)
NM_001999.4(FBN2):c.435A>G (p.Ser145=)
NM_001999.4(FBN2):c.436+13C>T
NM_001999.4(FBN2):c.436+4T>G
NM_001999.4(FBN2):c.4360G>A (p.Ala1454Thr)
NM_001999.4(FBN2):c.437-12T>C
NM_001999.4(FBN2):c.437-1G>A rs1180913191
NM_001999.4(FBN2):c.4382A>G (p.Glu1461Gly) rs1750620648
NM_001999.4(FBN2):c.4386C>T (p.Asn1462=)
NM_001999.4(FBN2):c.4390C>G (p.Gln1464Glu) rs1750620267
NM_001999.4(FBN2):c.4397T>G (p.Leu1466Arg)
NM_001999.4(FBN2):c.4404C>T (p.Val1468=)
NM_001999.4(FBN2):c.4410T>G (p.Gly1470=)
NM_001999.4(FBN2):c.4413A>G (p.Ala1471=)
NM_001999.4(FBN2):c.4423G>A (p.Glu1475Lys)
NM_001999.4(FBN2):c.4442C>T (p.Thr1481Ile)
NM_001999.4(FBN2):c.4444C>G (p.Pro1482Ala)
NM_001999.4(FBN2):c.4466G>A (p.Cys1489Tyr)
NM_001999.4(FBN2):c.4471+6T>G
NM_001999.4(FBN2):c.4471+9C>A
NM_001999.4(FBN2):c.4472-12del rs758812755
NM_001999.4(FBN2):c.4472-12dup
NM_001999.4(FBN2):c.4472-18T>A rs200285828
NM_001999.4(FBN2):c.4472-18T>G
NM_001999.4(FBN2):c.4472-19T>A
NM_001999.4(FBN2):c.4472-2A>G rs1554121102
NM_001999.4(FBN2):c.4472-3C>T
NM_001999.4(FBN2):c.4472-7T>C
NM_001999.4(FBN2):c.4485C>T (p.Cys1495=)
NM_001999.4(FBN2):c.4487C>T (p.Ser1496Phe)
NM_001999.4(FBN2):c.449G>T (p.Ser150Ile) rs779482726
NM_001999.4(FBN2):c.4513A>G (p.Thr1505Ala) rs1581212696
NM_001999.4(FBN2):c.4516T>C (p.Cys1506Arg) rs1750289332
NM_001999.4(FBN2):c.4545C>T (p.Cys1515=) rs1348263135
NM_001999.4(FBN2):c.4563T>C (p.Tyr1521=) rs1434367982
NM_001999.4(FBN2):c.4571A>G (p.Asp1524Gly)
NM_001999.4(FBN2):c.4573A>G (p.Arg1525Gly)
NM_001999.4(FBN2):c.4577C>G (p.Thr1526Arg) rs2126854542
NM_001999.4(FBN2):c.4584G>A (p.Gly1528=) rs1554121089
NM_001999.4(FBN2):c.4590T>C (p.Cys1530=) rs1581212624
NM_001999.4(FBN2):c.4592_4594+3del rs2126854512
NM_001999.4(FBN2):c.4594+3A>G
NM_001999.4(FBN2):c.4594G>A (p.Asp1532Asn) rs863223574
NM_001999.4(FBN2):c.4595-4C>A
NM_001999.4(FBN2):c.4620A>C (p.Ile1540=)
NM_001999.4(FBN2):c.4627G>A (p.Val1543Ile) rs1554121038
NM_001999.4(FBN2):c.4649C>T (p.Thr1550Met)
NM_001999.4(FBN2):c.4657C>G (p.Arg1553Gly)
NM_001999.4(FBN2):c.4658G>C (p.Arg1553Pro)
NM_001999.4(FBN2):c.4659C>T (p.Arg1553=)
NM_001999.4(FBN2):c.4661A>T (p.Tyr1554Phe)
NM_001999.4(FBN2):c.4665G>A (p.Glu1555=)
NM_001999.4(FBN2):c.4674C>T (p.Cys1558=)
NM_001999.4(FBN2):c.4677A>G (p.Pro1559=) rs1581212135
NM_001999.4(FBN2):c.4681G>A (p.Asp1561Asn)
NM_001999.4(FBN2):c.4696C>A (p.Pro1566Thr)
NM_001999.4(FBN2):c.4709G>C (p.Gly1570Ala)
NM_001999.4(FBN2):c.4709G>T (p.Gly1570Val)
NM_001999.4(FBN2):c.4710T>C (p.Gly1570=)
NM_001999.4(FBN2):c.4714G>T (p.Val1572Phe) rs535517270
NM_001999.4(FBN2):c.4717+8A>G rs1750262267
NM_001999.4(FBN2):c.4718-6C>T
NM_001999.4(FBN2):c.471G>A (p.Gly157=)
NM_001999.4(FBN2):c.4727T>C (p.Val1576Ala) rs1581208599
NM_001999.4(FBN2):c.4738T>C (p.Tyr1580His) rs1060503508
NM_001999.4(FBN2):c.4748T>C (p.Phe1583Ser)
NM_001999.4(FBN2):c.4757G>A (p.Arg1586Gln) rs143195229
NM_001999.4(FBN2):c.4767G>T (p.Gly1589=) rs1750089730
NM_001999.4(FBN2):c.4770T>G (p.Ser1590Arg) rs1295579995
NM_001999.4(FBN2):c.4771C>G (p.Leu1591Val)
NM_001999.4(FBN2):c.4773G>A (p.Leu1591=) rs753387547
NM_001999.4(FBN2):c.4815A>C (p.Ser1605=) rs377657220
NM_001999.4(FBN2):c.4828C>T (p.Leu1610=)
NM_001999.4(FBN2):c.4829T>C (p.Leu1610Pro) rs886038891
NM_001999.4(FBN2):c.4835A>G (p.Lys1612Arg) rs2126847622
NM_001999.4(FBN2):c.4838C>G (p.Ala1613Gly)
NM_001999.4(FBN2):c.4863C>T (p.Cys1621=)
NM_001999.4(FBN2):c.4867C>T (p.Pro1623Ser) rs139830237
NM_001999.4(FBN2):c.4877G>A (p.Ser1626Asn)
NM_001999.4(FBN2):c.4877G>T (p.Ser1626Ile) rs1403929477
NM_001999.4(FBN2):c.4879+12G>A
NM_001999.4(FBN2):c.4879+16A>G rs2126847534
NM_001999.4(FBN2):c.4879A>C (p.Thr1627Pro) rs1561765113
NM_001999.4(FBN2):c.4880-12A>G rs376111927
NM_001999.4(FBN2):c.4880-14C>G
NM_001999.4(FBN2):c.4884A>C (p.Glu1628Asp)
NM_001999.4(FBN2):c.4896G>A (p.Leu1632=)
NM_001999.4(FBN2):c.4919G>T (p.Arg1640Ile)
NM_001999.4(FBN2):c.4924A>G (p.Asn1642Asp)
NM_001999.4(FBN2):c.4925A>G (p.Asn1642Ser)
NM_001999.4(FBN2):c.4928C>G (p.Pro1643Arg) rs863223609
NM_001999.4(FBN2):c.4938C>T (p.Ile1646=) rs773597432
NM_001999.4(FBN2):c.4948+15T>C
NM_001999.4(FBN2):c.4949-12C>T
NM_001999.4(FBN2):c.4949-17T>C rs2126846281
NM_001999.4(FBN2):c.4949-19A>C
NM_001999.4(FBN2):c.4949-6T>C
NM_001999.4(FBN2):c.4957G>A (p.Glu1653Lys)
NM_001999.4(FBN2):c.4959A>C (p.Glu1653Asp) rs1554120359
NM_001999.4(FBN2):c.4971A>G (p.Leu1657=)
NM_001999.4(FBN2):c.4980C>T (p.Leu1660=)
NM_001999.4(FBN2):c.4986G>A (p.Gln1662=) rs1554120357
NM_001999.4(FBN2):c.5037A>C (p.Gln1679His) rs1554120349
NM_001999.4(FBN2):c.5045A>G (p.Tyr1682Cys) rs769474473
NM_001999.4(FBN2):c.5050A>G (p.Ser1684Gly) rs863223577
NM_001999.4(FBN2):c.5052C>T (p.Ser1684=)
NM_001999.4(FBN2):c.5068T>C (p.Cys1690Arg) rs141401126
NM_001999.4(FBN2):c.5069G>A (p.Cys1690Tyr) rs1554120340
NM_001999.4(FBN2):c.5073A>G (p.Glu1691=)
NM_001999.4(FBN2):c.5074+12T>A
NM_001999.4(FBN2):c.5075-10C>G
NM_001999.4(FBN2):c.5075-19A>T
NM_001999.4(FBN2):c.5075-20_5075-17del
NM_001999.4(FBN2):c.5075A>G (p.Asp1692Gly)
NM_001999.4(FBN2):c.5078T>G (p.Ile1693Ser)
NM_001999.4(FBN2):c.5079T>C (p.Ile1693=)
NM_001999.4(FBN2):c.5092G>T (p.Ala1698Ser)
NM_001999.4(FBN2):c.5093C>T (p.Ala1698Val)
NM_001999.4(FBN2):c.5116G>C (p.Gly1706Arg)
NM_001999.4(FBN2):c.5118G>A (p.Gly1706=) rs1284156837
NM_001999.4(FBN2):c.5119A>T (p.Thr1707Ser) rs1749990667
NM_001999.4(FBN2):c.514G>A (p.Gly172Arg)
NM_001999.4(FBN2):c.5150G>T (p.Cys1717Phe) rs1554120186
NM_001999.4(FBN2):c.5183G>T (p.Gly1728Val)
NM_001999.4(FBN2):c.518C>T (p.Thr173Ile) rs147157552
NM_001999.4(FBN2):c.5200+5_5200+10del
NM_001999.4(FBN2):c.5201-17dup
NM_001999.4(FBN2):c.5201-19T>G
NM_001999.4(FBN2):c.5201-20C>A
NM_001999.4(FBN2):c.523T>C (p.Cys175Arg) rs886038942
NM_001999.4(FBN2):c.5240C>G (p.Thr1747Ser)
NM_001999.4(FBN2):c.5242A>G (p.Thr1748Ala)
NM_001999.4(FBN2):c.5257T>C (p.Leu1753=)
NM_001999.4(FBN2):c.5279G>C (p.Arg1760Thr) rs748580764
NM_001999.4(FBN2):c.5283G>T (p.Met1761Ile) rs2126842957
NM_001999.4(FBN2):c.528A>G (p.Gly176=)
NM_001999.4(FBN2):c.5307C>A (p.Gly1769=) rs755781072
NM_001999.4(FBN2):c.5312C>T (p.Ala1771Val) rs2126842904
NM_001999.4(FBN2):c.531A>G (p.Gln177=) rs863223544
NM_001999.4(FBN2):c.532+16T>G
NM_001999.4(FBN2):c.532+1G>A
NM_001999.4(FBN2):c.533-11T>A
NM_001999.4(FBN2):c.533-14A>G
NM_001999.4(FBN2):c.533-4G>A
NM_001999.4(FBN2):c.5332C>A (p.Pro1778Thr)
NM_001999.4(FBN2):c.5337C>T (p.Cys1779=) rs1307268596
NM_001999.4(FBN2):c.5339C>G (p.Pro1780Arg)
NM_001999.4(FBN2):c.533C>T (p.Pro178Leu)
NM_001999.4(FBN2):c.5344C>T (p.Pro1782Ser) rs1554120093
NM_001999.4(FBN2):c.5346A>G (p.Pro1782=) rs2126842864
NM_001999.4(FBN2):c.5353+10C>A rs113589974
NM_001999.4(FBN2):c.5353+15C>A
NM_001999.4(FBN2):c.5353+16G>C
NM_001999.4(FBN2):c.5354-4A>G rs2126840686
NM_001999.4(FBN2):c.535G>C (p.Val179Leu)
NM_001999.4(FBN2):c.5392A>G (p.Thr1798Ala)
NM_001999.4(FBN2):c.5401A>G (p.Ile1801Val)
NM_001999.4(FBN2):c.5420T>C (p.Val1807Ala)
NM_001999.4(FBN2):c.5422+11C>T
NM_001999.4(FBN2):c.5422+14G>A
NM_001999.4(FBN2):c.5422+20G>A
NM_001999.4(FBN2):c.5423-17A>G rs2126839337
NM_001999.4(FBN2):c.5423-18A>C
NM_001999.4(FBN2):c.5423-18A>G
NM_001999.4(FBN2):c.5423-1G>C
NM_001999.4(FBN2):c.5429A>G (p.Asp1810Gly) rs1749861614
NM_001999.4(FBN2):c.5443A>T (p.Ile1815Phe)
NM_001999.4(FBN2):c.5446C>G (p.Pro1816Ala) rs1561760487
NM_001999.4(FBN2):c.5450G>T (p.Gly1817Val)
NM_001999.4(FBN2):c.5462A>G (p.Asn1821Ser)
NM_001999.4(FBN2):c.5472C>T (p.Cys1824=) rs1385121154
NM_001999.4(FBN2):c.5481G>C (p.Gln1827His)
NM_001999.4(FBN2):c.5484T>G (p.Ile1828Met)
NM_001999.4(FBN2):c.5493C>G (p.Phe1831Leu)
NM_001999.4(FBN2):c.5511A>G (p.Thr1837=)
NM_001999.4(FBN2):c.5534T>G (p.Leu1845Arg) rs1749856162
NM_001999.4(FBN2):c.5548G>A (p.Asp1850Asn)
NM_001999.4(FBN2):c.5549-8T>C
NM_001999.4(FBN2):c.5550T>C (p.Asp1850=)
NM_001999.4(FBN2):c.5552T>C (p.Ile1851Thr)
NM_001999.4(FBN2):c.5552T>G (p.Ile1851Arg)
NM_001999.4(FBN2):c.5555A>G (p.Asp1852Gly) rs1749848470
NM_001999.4(FBN2):c.5555A>T (p.Asp1852Val)
NM_001999.4(FBN2):c.5565C>T (p.Ser1855=)
NM_001999.4(FBN2):c.5568T>A (p.Asn1856Lys) rs1201284691
NM_001999.4(FBN2):c.5569G>A (p.Gly1857Ser) rs2126838900
NM_001999.4(FBN2):c.5579T>C (p.Leu1860Pro)
NM_001999.4(FBN2):c.5588G>A (p.Arg1863Gln) rs1447600676
NM_001999.4(FBN2):c.5593G>T (p.Ala1865Ser) rs200681872
NM_001999.4(FBN2):c.5595A>T (p.Ala1865=) rs1749846586
NM_001999.4(FBN2):c.5596G>A (p.Asp1866Asn)
NM_001999.4(FBN2):c.5597A>G (p.Asp1866Gly)
NM_001999.4(FBN2):c.5598C>G (p.Asp1866Glu)
NM_001999.4(FBN2):c.55G>A (p.Val19Met) rs1357709072
NM_001999.4(FBN2):c.5606A>G (p.Asn1869Ser) rs1749845932
NM_001999.4(FBN2):c.5617A>C (p.Ser1873Arg) rs1060503504
NM_001999.4(FBN2):c.5623C>T (p.Arg1875Cys)
NM_001999.4(FBN2):c.5632T>C (p.Cys1878Arg) rs1248957106
NM_001999.4(FBN2):c.5674+12G>A
NM_001999.4(FBN2):c.5674+4A>G rs778011355
NM_001999.4(FBN2):c.5674+8A>G rs2126838714
NM_001999.4(FBN2):c.5675-14T>A
NM_001999.4(FBN2):c.5675-17A>G
NM_001999.4(FBN2):c.5675-17A>T
NM_001999.4(FBN2):c.5675-18del
NM_001999.4(FBN2):c.5690T>C (p.Leu1897Ser)
NM_001999.4(FBN2):c.5692G>C (p.Glu1898Gln) rs767932789
NM_001999.4(FBN2):c.5700T>C (p.Pro1900=)
NM_001999.4(FBN2):c.5704G>T (p.Val1902Phe)
NM_001999.4(FBN2):c.5718C>T (p.Gly1906=)
NM_001999.4(FBN2):c.573C>A (p.Ile191=)
NM_001999.4(FBN2):c.5741G>A (p.Ser1914Asn)
NM_001999.4(FBN2):c.5744A>T (p.Tyr1915Phe)
NM_001999.4(FBN2):c.5745C>T (p.Tyr1915=)
NM_001999.4(FBN2):c.5750G>A (p.Cys1917Tyr)
NM_001999.4(FBN2):c.5754C>A (p.Ile1918=) rs1554119714
NM_001999.4(FBN2):c.5775T>C (p.Ala1925=)
NM_001999.4(FBN2):c.5780A>C (p.Gln1927Pro)
NM_001999.4(FBN2):c.5789C>A (p.Thr1930Asn)
NM_001999.4(FBN2):c.578C>T (p.Pro193Leu)
NM_001999.4(FBN2):c.579C>G (p.Pro193=)
NM_001999.4(FBN2):c.5800+16G>A
NM_001999.4(FBN2):c.5800+20C>T rs1554119695
NM_001999.4(FBN2):c.5800+6A>T rs2126838039
NM_001999.4(FBN2):c.5800+9G>A
NM_001999.4(FBN2):c.5801-18G>T
NM_001999.4(FBN2):c.5801-5T>G rs571282132
NM_001999.4(FBN2):c.5804_5806del (p.Val1935del) rs1554119538
NM_001999.4(FBN2):c.5805T>C (p.Val1935=) rs777941578
NM_001999.4(FBN2):c.5811G>A (p.Glu1937=)
NM_001999.4(FBN2):c.5818C>T (p.Arg1940Trp) rs755672868
NM_001999.4(FBN2):c.583C>T (p.Arg195Cys) rs1561495424
NM_001999.4(FBN2):c.584G>A (p.Arg195His) rs746890032
NM_001999.4(FBN2):c.5868C>T (p.Asn1956=)
NM_001999.4(FBN2):c.5871T>C (p.Cys1957=)
NM_001999.4(FBN2):c.5886G>C (p.Gly1962=) rs747408641
NM_001999.4(FBN2):c.5889T>C (p.Phe1963=) rs1554119526
NM_001999.4(FBN2):c.5895C>G (p.Leu1965=) rs1581201379
NM_001999.4(FBN2):c.5898T>C (p.Thr1966=) rs2126835924
NM_001999.4(FBN2):c.5899C>G (p.His1967Asp)
NM_001999.4(FBN2):c.5910T>G (p.Asp1970Glu) rs1749761553
NM_001999.4(FBN2):c.5917+10T>G
NM_001999.4(FBN2):c.5917+20C>T
NM_001999.4(FBN2):c.5917+5G>A rs1561758622
NM_001999.4(FBN2):c.5918-10T>C rs547697385
NM_001999.4(FBN2):c.5918-13T>C
NM_001999.4(FBN2):c.5918-20A>G
NM_001999.4(FBN2):c.5921_5922delinsCG (p.Ile1974Thr) rs1749718755
NM_001999.4(FBN2):c.5945G>A (p.Gly1982Asp) rs1561757902
NM_001999.4(FBN2):c.5971T>C (p.Phe1991Leu)
NM_001999.4(FBN2):c.5976T>C (p.Asn1992=) rs1749717202
NM_001999.4(FBN2):c.5978A>G (p.Glu1993Gly) rs1749717138
NM_001999.4(FBN2):c.5990T>C (p.Phe1997Ser) rs754066538
NM_001999.4(FBN2):c.5998C>A (p.Leu2000Ile)
NM_001999.4(FBN2):c.5G>A (p.Gly2Glu) rs976599275
NM_001999.4(FBN2):c.6016G>A (p.Glu2006Lys)
NM_001999.4(FBN2):c.6026C>T (p.Pro2009Leu)
NM_001999.4(FBN2):c.6028G>C (p.Asp2010His) rs1749713036
NM_001999.4(FBN2):c.6030T>A (p.Asp2010Glu) rs776937649
NM_001999.4(FBN2):c.6031G>A (p.Gly2011Ser)
NM_001999.4(FBN2):c.6043A>G (p.Ile2015Val) rs1202188687
NM_001999.4(FBN2):c.6045A>G (p.Ile2015Met) rs770585421
NM_001999.4(FBN2):c.6046+10T>C rs1179452976
NM_001999.4(FBN2):c.6046+16A>G
NM_001999.4(FBN2):c.6046+2T>C rs1581200259
NM_001999.4(FBN2):c.6046G>C (p.Asp2016His) rs1749711886
NM_001999.4(FBN2):c.6047-13T>C
NM_001999.4(FBN2):c.6047-9del
NM_001999.4(FBN2):c.6053A>G (p.Asn2018Ser)
NM_001999.4(FBN2):c.6055G>A (p.Glu2019Lys) rs1554119321
NM_001999.4(FBN2):c.6056A>G (p.Glu2019Gly) rs1749697561
NM_001999.4(FBN2):c.6071C>A (p.Pro2024His)
NM_001999.4(FBN2):c.6089G>T (p.Gly2030Val)
NM_001999.4(FBN2):c.60G>C (p.Val20=)
NM_001999.4(FBN2):c.6118A>G (p.Arg2040Gly) rs886038814
NM_001999.4(FBN2):c.6122G>A (p.Cys2041Tyr) rs2126833724
NM_001999.4(FBN2):c.6131C>T (p.Pro2044Leu)
NM_001999.4(FBN2):c.6147A>G (p.Val2049=)
NM_001999.4(FBN2):c.6154G>A (p.Glu2052Lys)
NM_001999.4(FBN2):c.6160T>A (p.Cys2054Ser)
NM_001999.4(FBN2):c.6165T>G (p.Ile2055Met)
NM_001999.4(FBN2):c.6167-12C>T
NM_001999.4(FBN2):c.6167-13_6167-11del rs1749326713
NM_001999.4(FBN2):c.6167-15C>A rs1749327059
NM_001999.4(FBN2):c.6167-1G>C
NM_001999.4(FBN2):c.6167-3C>A rs878854477
NM_001999.4(FBN2):c.6167-4G>A rs370981323
NM_001999.4(FBN2):c.6167-4G>T rs370981323
NM_001999.4(FBN2):c.6195C>T (p.Asn2065=)
NM_001999.4(FBN2):c.6229G>A (p.Gly2077Arg)
NM_001999.4(FBN2):c.6231G>A (p.Gly2077=)
NM_001999.4(FBN2):c.6233G>C (p.Gly2078Ala) rs753305406
NM_001999.4(FBN2):c.6254C>G (p.Pro2085Arg) rs2126822046
NM_001999.4(FBN2):c.6269C>G (p.Ser2090Cys)
NM_001999.4(FBN2):c.6269C>T (p.Ser2090Phe) rs878854478
NM_001999.4(FBN2):c.6270T>C (p.Ser2090=) rs2126822027
NM_001999.4(FBN2):c.6277G>A (p.Gly2093Arg)
NM_001999.4(FBN2):c.628+20T>G
NM_001999.4(FBN2):c.628+3A>G
NM_001999.4(FBN2):c.628+4A>C
NM_001999.4(FBN2):c.628+8G>A
NM_001999.4(FBN2):c.6281G>A (p.Arg2094Gln)
NM_001999.4(FBN2):c.6282G>T (p.Arg2094=)
NM_001999.4(FBN2):c.629-11C>T rs2127084540
NM_001999.4(FBN2):c.629-15T>G
NM_001999.4(FBN2):c.629-26TCTT[4] rs778383061
NM_001999.4(FBN2):c.629-3C>G rs376491648
NM_001999.4(FBN2):c.6292+11G>C
NM_001999.4(FBN2):c.6292+17C>G
NM_001999.4(FBN2):c.6292+17C>T rs776362563
NM_001999.4(FBN2):c.6292+6A>G
NM_001999.4(FBN2):c.6293-13C>A
NM_001999.4(FBN2):c.6299G>A (p.Arg2100His) rs746758405
NM_001999.4(FBN2):c.6349A>G (p.Lys2117Glu) rs2126821327
NM_001999.4(FBN2):c.6353C>T (p.Ala2118Val)
NM_001999.4(FBN2):c.63C>G (p.Leu21=) rs2112811119
NM_001999.4(FBN2):c.640G>A (p.Gly214Ser)
NM_001999.4(FBN2):c.6412G>A (p.Asp2138Asn)
NM_001999.4(FBN2):c.6415C>T (p.Pro2139Ser) rs1266965965
NM_001999.4(FBN2):c.6421G>A (p.Glu2141Lys)
NM_001999.4(FBN2):c.6424C>T (p.Leu2142=) rs2126821243
NM_001999.4(FBN2):c.6426G>A (p.Leu2142=) rs2126821236
NM_001999.4(FBN2):c.6426G>C (p.Leu2142=) rs2126821236
NM_001999.4(FBN2):c.6437A>G (p.Asp2146Gly) rs760548036
NM_001999.4(FBN2):c.6445+14C>T
NM_001999.4(FBN2):c.6445+3A>G
NM_001999.4(FBN2):c.6445+7G>T
NM_001999.4(FBN2):c.6446-12T>G
NM_001999.4(FBN2):c.6446-15T>C
NM_001999.4(FBN2):c.6446-4G>C
NM_001999.4(FBN2):c.6446-8C>A rs2126820462
NM_001999.4(FBN2):c.6446T>C (p.Val2149Ala) rs191065419
NM_001999.4(FBN2):c.6446T>G (p.Val2149Gly) rs191065419
NM_001999.4(FBN2):c.6454C>T (p.Gln2152Ter)
NM_001999.4(FBN2):c.6456G>A (p.Gln2152=)
NM_001999.4(FBN2):c.645G>T (p.Pro215=) rs764473594
NM_001999.4(FBN2):c.6468A>G (p.Pro2156=)
NM_001999.4(FBN2):c.6506G>A (p.Arg2169His)
NM_001999.4(FBN2):c.6511+4C>A rs368610241
NM_001999.4(FBN2):c.6512-11C>A rs759648926
NM_001999.4(FBN2):c.6512-11C>T rs759648926
NM_001999.4(FBN2):c.6512-2A>G rs863223580
NM_001999.4(FBN2):c.6512-2A>T
NM_001999.4(FBN2):c.6512-8T>A rs2126819626
NM_001999.4(FBN2):c.6569C>G (p.Thr2190Ser) rs1561750168
NM_001999.4(FBN2):c.6570C>T (p.Thr2190=)
NM_001999.4(FBN2):c.6571G>A (p.Asp2191Asn) rs1244642553
NM_001999.4(FBN2):c.6575G>C (p.Gly2192Ala)
NM_001999.4(FBN2):c.6619A>C (p.Thr2207Pro)
NM_001999.4(FBN2):c.6623G>A (p.Gly2208Glu) rs200489152
NM_001999.4(FBN2):c.6625G>T (p.Val2209Leu)
NM_001999.4(FBN2):c.6637+8T>C rs780697390
NM_001999.4(FBN2):c.6638-13T>A
NM_001999.4(FBN2):c.6638-15_6638-13del rs756212920
NM_001999.4(FBN2):c.6638-19T>C rs2126818779
NM_001999.4(FBN2):c.6638-9_6638-7del rs754187604
NM_001999.4(FBN2):c.6657C>T (p.Ile2219=)
NM_001999.4(FBN2):c.6663T>A (p.Asn2221Lys) rs2126818692
NM_001999.4(FBN2):c.6678T>C (p.Gly2226=) rs2126818668
NM_001999.4(FBN2):c.6693T>C (p.Val2231=) rs1554118051
NM_001999.4(FBN2):c.6719A>G (p.Asn2240Ser) rs863223612
NM_001999.4(FBN2):c.6748A>T (p.Asn2250Tyr)
NM_001999.4(FBN2):c.6757+2C>T
NM_001999.4(FBN2):c.6757+8A>T
NM_001999.4(FBN2):c.6757+9T>C
NM_001999.4(FBN2):c.6758-12del rs757126046
NM_001999.4(FBN2):c.6765C>T (p.Asn2255=) rs140044610
NM_001999.4(FBN2):c.676C>G (p.Gln226Glu)
NM_001999.4(FBN2):c.6777G>A (p.Gln2259=)
NM_001999.4(FBN2):c.677A>G (p.Gln226Arg)
NM_001999.4(FBN2):c.6783A>C (p.Pro2261=) rs1561749096
NM_001999.4(FBN2):c.6786G>T (p.Leu2262=)
NM_001999.4(FBN2):c.67G>C (p.Ala23Pro) rs893243344
NM_001999.4(FBN2):c.6814T>G (p.Phe2272Val) rs1749185390
NM_001999.4(FBN2):c.6832A>G (p.Thr2278Ala) rs1060503500
NM_001999.4(FBN2):c.6840G>A (p.Pro2280=) rs377742525
NM_001999.4(FBN2):c.6856A>G (p.Arg2286Gly)
NM_001999.4(FBN2):c.685C>T (p.Leu229=) rs200698449
NM_001999.4(FBN2):c.6870G>C (p.Lys2290Asn)
NM_001999.4(FBN2):c.6873G>A (p.Met2291Ile) rs1581189176
NM_001999.4(FBN2):c.6880+16C>T
NM_001999.4(FBN2):c.6880+19G>T
NM_001999.4(FBN2):c.6880+6G>A
NM_001999.4(FBN2):c.6880+6G>C rs1271195305
NM_001999.4(FBN2):c.6881-13T>C
NM_001999.4(FBN2):c.6881-15del
NM_001999.4(FBN2):c.6881-19T>A
NM_001999.4(FBN2):c.6881-1G>A
NM_001999.4(FBN2):c.6881-1G>T
NM_001999.4(FBN2):c.6881-4C>G
NM_001999.4(FBN2):c.6898G>A (p.Glu2300Lys) rs1419124277
NM_001999.4(FBN2):c.68C>A (p.Ala23Glu) rs199560824
NM_001999.4(FBN2):c.6903G>A (p.Gly2301=)
NM_001999.4(FBN2):c.6903G>T (p.Gly2301=) rs886039130
NM_001999.4(FBN2):c.6908A>G (p.His2303Arg)
NM_001999.4(FBN2):c.6909C>A (p.His2303Gln)
NM_001999.4(FBN2):c.6911A>G (p.Asp2304Gly)
NM_001999.4(FBN2):c.6917A>G (p.Glu2306Gly)
NM_001999.4(FBN2):c.6924G>A (p.Arg2308=)
NM_001999.4(FBN2):c.6948C>A (p.Ile2316=) rs17608368
NM_001999.4(FBN2):c.6948C>T (p.Ile2316=) rs17608368
NM_001999.4(FBN2):c.6972T>A (p.Pro2324=)
NM_001999.4(FBN2):c.6972T>C (p.Pro2324=) rs1581188714
NM_001999.4(FBN2):c.6972T>G (p.Pro2324=)
NM_001999.4(FBN2):c.6975T>A (p.Pro2325=) rs1274780641
NM_001999.4(FBN2):c.6975T>C (p.Pro2325=)
NM_001999.4(FBN2):c.6977G>C (p.Gly2326Ala) rs1554117875
NM_001999.4(FBN2):c.6985C>T (p.Arg2329Ter) rs1287289593
NM_001999.4(FBN2):c.6986G>T (p.Arg2329Leu) rs370804151
NM_001999.4(FBN2):c.6993C>T (p.Pro2331=) rs368234173
NM_001999.4(FBN2):c.6999A>C (p.Gly2333=)
NM_001999.4(FBN2):c.7011A>G (p.Val2337=) rs2126816680
NM_001999.4(FBN2):c.7012+13G>A
NM_001999.4(FBN2):c.7012+18G>T
NM_001999.4(FBN2):c.7012+7G>C rs199735209
NM_001999.4(FBN2):c.7012+8G>A rs1422660066
NM_001999.4(FBN2):c.7013-5del
NM_001999.4(FBN2):c.7013-7T>C
NM_001999.4(FBN2):c.7030A>T (p.Thr2344Ser)
NM_001999.4(FBN2):c.7052A>G (p.Asn2351Ser) rs1581184433
NM_001999.4(FBN2):c.7055G>C (p.Gly2352Ala) rs764330020
NM_001999.4(FBN2):c.705G>A (p.Thr235=)
NM_001999.4(FBN2):c.705G>T (p.Thr235=)
NM_001999.4(FBN2):c.7080C>A (p.Ser2360Arg)
NM_001999.4(FBN2):c.7085G>A (p.Arg2362Lys) rs771718967
NM_001999.4(FBN2):c.7085G>C (p.Arg2362Thr) rs771718967
NM_001999.4(FBN2):c.7109A>G (p.Gln2370Arg)
NM_001999.4(FBN2):c.7115G>C (p.Ser2372Thr)
NM_001999.4(FBN2):c.7118C>T (p.Ser2373Phe)
NM_001999.4(FBN2):c.7128T>C (p.Thr2376=) rs1765497836
NM_001999.4(FBN2):c.7137T>C (p.Leu2379=)
NM_001999.4(FBN2):c.7139A>G (p.Asp2380Gly) rs1765463264
NM_001999.4(FBN2):c.714G>C (p.Leu238=)
NM_001999.4(FBN2):c.7155C>T (p.Leu2385=)
NM_001999.4(FBN2):c.7158C>T (p.Cys2386=) rs759522946
NM_001999.4(FBN2):c.7161T>C (p.Phe2387=)
NM_001999.4(FBN2):c.7163C>T (p.Ala2388Val) rs754380350
NM_001999.4(FBN2):c.7168G>A (p.Val2390Ile) rs768193630
NM_001999.4(FBN2):c.7169T>C (p.Val2390Ala)
NM_001999.4(FBN2):c.7170A>T (p.Val2390=)
NM_001999.4(FBN2):c.7176G>A (p.Gln2392=)
NM_001999.4(FBN2):c.7184G>A (p.Cys2395Tyr)
NM_001999.4(FBN2):c.7192G>T (p.Ala2398Ser)
NM_001999.4(FBN2):c.7195T>G (p.Ser2399Ala)
NM_001999.4(FBN2):c.7200_7201delinsCC (p.Ser2401Arg)
NM_001999.4(FBN2):c.7201A>G (p.Ser2401Gly)
NM_001999.4(FBN2):c.7204C>T (p.Arg2402Cys)
NM_001999.4(FBN2):c.7205_7206delinsTT (p.Arg2402Leu)
NM_001999.4(FBN2):c.7218T>G (p.Thr2406=)
NM_001999.4(FBN2):c.7241G>A (p.Gly2414Asp)
NM_001999.4(FBN2):c.7241G>T (p.Gly2414Val) rs2126809569
NM_001999.4(FBN2):c.7250G>T (p.Gly2417Val) rs886038938
NM_001999.4(FBN2):c.7259A>C (p.His2420Pro) rs2126809547
NM_001999.4(FBN2):c.7260C>T (p.His2420=) rs775251012
NM_001999.4(FBN2):c.7273T>C (p.Cys2425Arg)
NM_001999.4(FBN2):c.7278A>G (p.Pro2426=) rs773011673
NM_001999.4(FBN2):c.7288A>G (p.Thr2430Ala)
NM_001999.4(FBN2):c.7316A>G (p.His2439Arg)
NM_001999.4(FBN2):c.7345+10T>C
NM_001999.4(FBN2):c.7345+6G>A
NM_001999.4(FBN2):c.7345+9T>A
NM_001999.4(FBN2):c.7346-17G>T
NM_001999.4(FBN2):c.7346-3C>T rs1439389862
NM_001999.4(FBN2):c.7346-8G>A rs2126808910
NM_001999.4(FBN2):c.736G>A (p.Ala246Thr) rs141088981
NM_001999.4(FBN2):c.737C>T (p.Ala246Val)
NM_001999.4(FBN2):c.7382C>T (p.Thr2461Ile) rs1019541548
NM_001999.4(FBN2):c.738G>T (p.Ala246=)
NM_001999.4(FBN2):c.7392G>A (p.Gln2464=)
NM_001999.4(FBN2):c.7396A>C (p.Ile2466Leu)
NM_001999.4(FBN2):c.7404C>G (p.Thr2468=)
NM_001999.4(FBN2):c.7418G>A (p.Arg2473Gln) rs28763925
NM_001999.4(FBN2):c.7418G>T (p.Arg2473Leu) rs28763925
NM_001999.4(FBN2):c.7428C>T (p.Cys2476=) rs2126808790
NM_001999.4(FBN2):c.7429A>G (p.Lys2477Glu) rs1765435966
NM_001999.4(FBN2):c.7433T>C (p.Val2478Ala)
NM_001999.4(FBN2):c.7444A>G (p.Thr2482Ala)
NM_001999.4(FBN2):c.7449C>T (p.Asp2483=)
NM_001999.4(FBN2):c.7459A>G (p.Thr2487Ala) rs2126808746
NM_001999.4(FBN2):c.7460C>T (p.Thr2487Ile)
NM_001999.4(FBN2):c.7464T>C (p.Ser2488=) rs1765435027
NM_001999.4(FBN2):c.7467T>C (p.Cys2489=)
NM_001999.4(FBN2):c.7468A>G (p.Ile2490Val)
NM_001999.4(FBN2):c.7475T>C (p.Leu2492Pro) rs1056653104
NM_001999.4(FBN2):c.7477G>T (p.Asp2493Tyr) rs779483120
NM_001999.4(FBN2):c.7487C>A (p.Ser2496Tyr)
NM_001999.4(FBN2):c.7495C>A (p.Pro2499Thr)
NM_001999.4(FBN2):c.74G>A (p.Gly25Asp) rs2112811070
NM_001999.4(FBN2):c.7521G>T (p.Lys2507Asn)
NM_001999.4(FBN2):c.7533G>T (p.Gly2511=) rs1060503502
NM_001999.4(FBN2):c.7539T>C (p.Tyr2513=) rs1581181343
NM_001999.4(FBN2):c.7543T>G (p.Cys2515Gly)
NM_001999.4(FBN2):c.7554G>A (p.Pro2518=)
NM_001999.4(FBN2):c.7560G>C (p.Gly2520=)
NM_001999.4(FBN2):c.7567C>T (p.Leu2523=) rs2126807268
NM_001999.4(FBN2):c.756G>A (p.Glu252=) rs565550310
NM_001999.4(FBN2):c.7571A>C (p.Gln2524Pro)
NM_001999.4(FBN2):c.7575G>T (p.Glu2525Asp)
NM_001999.4(FBN2):c.7577A>T (p.Asp2526Val) rs768941456
NM_001999.4(FBN2):c.7582A>C (p.Lys2528Gln) rs894902794
NM_001999.4(FBN2):c.7582A>G (p.Lys2528Glu)
NM_001999.4(FBN2):c.7588T>C (p.Cys2530Arg)
NM_001999.4(FBN2):c.7594+14C>T
NM_001999.4(FBN2):c.7595-12C>G
NM_001999.4(FBN2):c.7595-14C>G
NM_001999.4(FBN2):c.7595-15T>C
NM_001999.4(FBN2):c.7595-17C>A rs1353897134
NM_001999.4(FBN2):c.7611A>G (p.Gln2537=)
NM_001999.4(FBN2):c.7618C>T (p.Gln2540Ter) rs1453328210
NM_001999.4(FBN2):c.761G>T (p.Cys254Phe) rs755760127
NM_001999.4(FBN2):c.7626C>G (p.Asn2542Lys)
NM_001999.4(FBN2):c.7650C>G (p.Thr2550=) rs140978642
NM_001999.4(FBN2):c.7650C>T (p.Thr2550=)
NM_001999.4(FBN2):c.7656G>A (p.Gly2552=) rs982288060
NM_001999.4(FBN2):c.7656G>T (p.Gly2552=)
NM_001999.4(FBN2):c.7657G>T (p.Gly2553Trp)
NM_001999.4(FBN2):c.7658G>A (p.Gly2553Glu)
NM_001999.4(FBN2):c.7658G>C (p.Gly2553Ala) rs764514988
NM_001999.4(FBN2):c.7658G>T (p.Gly2553Val)
NM_001999.4(FBN2):c.7672T>G (p.Cys2558Gly) rs863223589
NM_001999.4(FBN2):c.7679C>T (p.Pro2560Leu)
NM_001999.4(FBN2):c.7693C>T (p.His2565Tyr) rs1765342729
NM_001999.4(FBN2):c.7698C>A (p.His2566Gln)
NM_001999.4(FBN2):c.7704T>C (p.Ala2568=) rs778549338
NM_001999.4(FBN2):c.7712-8T>G
NM_001999.4(FBN2):c.7727G>T (p.Gly2576Val) rs572453085
NM_001999.4(FBN2):c.7734A>T (p.Gln2578His)
NM_001999.4(FBN2):c.7744T>C (p.Cys2582Arg) rs2126805299
NM_001999.4(FBN2):c.7757G>C (p.Gly2586Ala) rs1447205905
NM_001999.4(FBN2):c.7758A>C (p.Gly2586=) rs1765323936
NM_001999.4(FBN2):c.7773T>C (p.Thr2591=) rs1554116608
NM_001999.4(FBN2):c.7787G>T (p.Ser2596Ile)
NM_001999.4(FBN2):c.7818T>C (p.Asp2606=)
NM_001999.4(FBN2):c.7822A>T (p.Thr2608Ser) rs762538141
NM_001999.4(FBN2):c.7837G>A (p.Glu2613Lys)
NM_001999.4(FBN2):c.7840+10T>C
NM_001999.4(FBN2):c.7840+1G>A
NM_001999.4(FBN2):c.7841-14G>A rs751308498
NM_001999.4(FBN2):c.7841-3C>T rs1554116417
NM_001999.4(FBN2):c.7859_7860delinsAA (p.Gly2620Glu) rs1554116412
NM_001999.4(FBN2):c.7860G>T (p.Gly2620=) rs772818240
NM_001999.4(FBN2):c.7868G>A (p.Arg2623Lys)
NM_001999.4(FBN2):c.7873C>T (p.Gln2625Ter) rs1554116411
NM_001999.4(FBN2):c.788G>A (p.Arg263Gln) rs769593495
NM_001999.4(FBN2):c.78G>C (p.Thr26=) rs1265112696
NM_001999.4(FBN2):c.78G>T (p.Thr26=)
NM_001999.4(FBN2):c.7900G>A (p.Gly2634Ser)
NM_001999.4(FBN2):c.7906A>C (p.Arg2636=)
NM_001999.4(FBN2):c.7914C>T (p.Gly2638=)
NM_001999.4(FBN2):c.7918C>G (p.Pro2640Ala) rs1060503512
NM_001999.4(FBN2):c.7959C>A (p.Val2653=) rs773175830
NM_001999.4(FBN2):c.795C>T (p.Phe265=)
NM_001999.4(FBN2):c.7960G>A (p.Asp2654Asn)
NM_001999.4(FBN2):c.7961A>G (p.Asp2654Gly)
NM_001999.4(FBN2):c.7975T>C (p.Ser2659Pro) rs1765039937
NM_001999.4(FBN2):c.7994G>C (p.Gly2665Ala)
NM_001999.4(FBN2):c.799C>T (p.Pro267Ser) rs1229950368
NM_001999.4(FBN2):c.7A>C (p.Arg3=) rs1466844222
NM_001999.4(FBN2):c.8001T>A (p.Ala2667=)
NM_001999.4(FBN2):c.8014A>G (p.Thr2672Ala)
NM_001999.4(FBN2):c.8016C>A (p.Thr2672=)
NM_001999.4(FBN2):c.8033G>C (p.Cys2678Ser) rs1765038866
NM_001999.4(FBN2):c.8034C>T (p.Cys2678=)
NM_001999.4(FBN2):c.8035G>A (p.Ala2679Thr) rs763870762
NM_001999.4(FBN2):c.8035G>T (p.Ala2679Ser) rs763870762
NM_001999.4(FBN2):c.8040C>T (p.Cys2680=)
NM_001999.4(FBN2):c.8042C>T (p.Pro2681Leu)
NM_001999.4(FBN2):c.8045_8046delinsTC (p.Ser2682Phe)
NM_001999.4(FBN2):c.8049G>T (p.Gly2683=) rs138044126
NM_001999.4(FBN2):c.8058C>T (p.Phe2686=) rs150734807
NM_001999.4(FBN2):c.8061C>G (p.Asp2687Glu) rs749888746
NM_001999.4(FBN2):c.8061C>T (p.Asp2687=)
NM_001999.4(FBN2):c.8061_8067delinsG (p.Asp2687_Phe2689delinsGlu) rs863223597
NM_001999.4(FBN2):c.806T>C (p.Ile269Thr) rs771008563
NM_001999.4(FBN2):c.8078G>T (p.Cys2693Phe) rs2126795619
NM_001999.4(FBN2):c.8080C>T (p.His2694Tyr) rs1387382061
NM_001999.4(FBN2):c.8082C>A (p.His2694Gln) rs142755118
NM_001999.4(FBN2):c.8082C>G (p.His2694Gln) rs142755118
NM_001999.4(FBN2):c.8082C>T (p.His2694=) rs142755118
NM_001999.4(FBN2):c.8083G>A (p.Asp2695Asn)
NM_001999.4(FBN2):c.8094G>C (p.Glu2698Asp) rs1765035115
NM_001999.4(FBN2):c.8096G>A (p.Cys2699Tyr) rs2126795584
NM_001999.4(FBN2):c.8098T>A (p.Ser2700Thr)
NM_001999.4(FBN2):c.8099C>G (p.Ser2700Trp) rs776788539
NM_001999.4(FBN2):c.809G>A (p.Arg270His) rs148971572
NM_001999.4(FBN2):c.809G>T (p.Arg270Leu) rs148971572
NM_001999.4(FBN2):c.80C>A (p.Ala27Asp)
NM_001999.4(FBN2):c.80C>T (p.Ala27Val)
NM_001999.4(FBN2):c.8100G>A (p.Ser2700=)
NM_001999.4(FBN2):c.8100G>C (p.Ser2700=) rs138659121
NM_001999.4(FBN2):c.8117G>A (p.Cys2706Tyr)
NM_001999.4(FBN2):c.8120A>G (p.Asn2707Ser) rs1182788018
NM_001999.4(FBN2):c.8127C>G (p.Gly2709=) rs141841206
NM_001999.4(FBN2):c.812C>G (p.Thr271Ser) rs1754660014
NM_001999.4(FBN2):c.8132C>G (p.Ser2711Cys) rs758149534
NM_001999.4(FBN2):c.8138C>T (p.Thr2713Met) rs754101758
NM_001999.4(FBN2):c.8139G>A (p.Thr2713=) rs1057523293
NM_001999.4(FBN2):c.8143G>A (p.Gly2715Arg) rs772569905
NM_001999.4(FBN2):c.8143G>C (p.Gly2715Arg) rs772569905
NM_001999.4(FBN2):c.8147G>T (p.Gly2716Val) rs1561736199
NM_001999.4(FBN2):c.8164C>T (p.Pro2722Ser)
NM_001999.4(FBN2):c.8187A>G (p.Gly2729=)
NM_001999.4(FBN2):c.8191G>A (p.Gly2731Ser) rs1765029329
NM_001999.4(FBN2):c.8192+20C>T
NM_001999.4(FBN2):c.8192+6G>A rs752575354
NM_001999.4(FBN2):c.8192+7C>A rs376135657
NM_001999.4(FBN2):c.8193-9T>G
NM_001999.4(FBN2):c.8193C>T (p.Gly2731=)
NM_001999.4(FBN2):c.81C>A (p.Ala27=)
NM_001999.4(FBN2):c.8226G>A (p.Gly2742=)
NM_001999.4(FBN2):c.8241G>A (p.Leu2747=) rs775766250
NM_001999.4(FBN2):c.824A>C (p.Gln275Pro)
NM_001999.4(FBN2):c.8251G>A (p.Val2751Ile)
NM_001999.4(FBN2):c.826+18C>G
NM_001999.4(FBN2):c.8261A>G (p.Glu2754Gly)
NM_001999.4(FBN2):c.827-10C>T
NM_001999.4(FBN2):c.827-13T>G
NM_001999.4(FBN2):c.827-4G>A
NM_001999.4(FBN2):c.8270T>A (p.Leu2757Gln)
NM_001999.4(FBN2):c.8275C>G (p.Pro2759Ala) rs1158966833
NM_001999.4(FBN2):c.8290G>A (p.Glu2764Lys)
NM_001999.4(FBN2):c.8297A>T (p.Lys2766Ile) rs1764982741
NM_001999.4(FBN2):c.8313T>C (p.Ser2771=)
NM_001999.4(FBN2):c.8315A>C (p.Lys2772Thr) rs1308073420
NM_001999.4(FBN2):c.8322C>T (p.Asp2774=) rs1554115402
NM_001999.4(FBN2):c.8323A>G (p.Ser2775Gly)
NM_001999.4(FBN2):c.8327G>A (p.Arg2776Lys)
NM_001999.4(FBN2):c.8331G>A (p.Gln2777=)
NM_001999.4(FBN2):c.834T>C (p.Asp278=) rs2127056960
NM_001999.4(FBN2):c.8359A>G (p.Thr2787Ala)
NM_001999.4(FBN2):c.8363C>T (p.Ala2788Val)
NM_001999.4(FBN2):c.8364+17C>T
NM_001999.4(FBN2):c.8364+7A>G rs185052980
NM_001999.4(FBN2):c.8364+8T>C rs1554115371
NM_001999.4(FBN2):c.8365-17T>G
NM_001999.4(FBN2):c.8365-4C>G rs878854480
NM_001999.4(FBN2):c.8366T>C (p.Val2789Ala)
NM_001999.4(FBN2):c.8374A>G (p.Ile2792Val)
NM_001999.4(FBN2):c.8379C>T (p.Ser2793=)
NM_001999.4(FBN2):c.837A>G (p.Glu279=) rs2127056950
NM_001999.4(FBN2):c.8383G>A (p.Glu2795Lys)
NM_001999.4(FBN2):c.8391C>G (p.Val2797=)
NM_001999.4(FBN2):c.8392G>A (p.Asp2798Asn)
NM_001999.4(FBN2):c.8396T>C (p.Met2799Thr)
NM_001999.4(FBN2):c.8407G>A (p.Val2803Ile)
NM_001999.4(FBN2):c.8413A>T (p.Met2805Leu)
NM_001999.4(FBN2):c.8414T>G (p.Met2805Arg)
NM_001999.4(FBN2):c.8425C>T (p.Leu2809Phe) rs1764918027
NM_001999.4(FBN2):c.8430C>A (p.Ser2810=)
NM_001999.4(FBN2):c.8435T>A (p.Leu2812His)
NM_001999.4(FBN2):c.844G>T (p.Ala282Ser)
NM_001999.4(FBN2):c.8454C>G (p.Ile2818Met) rs2126791949
NM_001999.4(FBN2):c.8467C>A (p.Pro2823Thr)
NM_001999.4(FBN2):c.8478G>C (p.Gln2826His) rs1161871936
NM_001999.4(FBN2):c.8493C>T (p.His2831=)
NM_001999.4(FBN2):c.8495T>A (p.Ile2832Asn)
NM_001999.4(FBN2):c.8499T>G (p.Arg2833=)
NM_001999.4(FBN2):c.84C>A (p.Gly28=)
NM_001999.4(FBN2):c.8501dup (p.Tyr2834Ter) rs1060503503
NM_001999.4(FBN2):c.8506A>G (p.Ile2836Val) rs1249852107
NM_001999.4(FBN2):c.8508C>T (p.Ile2836=) rs1764914729
NM_001999.4(FBN2):c.8517G>C (p.Gly2839=) rs1764914519
NM_001999.4(FBN2):c.8521G>A (p.Asp2841Asn)
NM_001999.4(FBN2):c.8527A>G (p.Ser2843Gly) rs1764914190
NM_001999.4(FBN2):c.8528_8529delinsTT (p.Ser2843Ile) rs2126791814
NM_001999.4(FBN2):c.8529C>A (p.Ser2843Arg)
NM_001999.4(FBN2):c.8529C>T (p.Ser2843=)
NM_001999.4(FBN2):c.8536C>T (p.Arg2846Cys)
NM_001999.4(FBN2):c.8537G>T (p.Arg2846Leu) rs200345491
NM_001999.4(FBN2):c.8538C>T (p.Arg2846=)
NM_001999.4(FBN2):c.853G>C (p.Gly285Arg) rs2127056896
NM_001999.4(FBN2):c.8543A>G (p.His2848Arg) rs1291203524
NM_001999.4(FBN2):c.8544C>T (p.His2848=)
NM_001999.4(FBN2):c.8556G>A (p.Gly2852=)
NM_001999.4(FBN2):c.8557C>T (p.Leu2853Phe)
NM_001999.4(FBN2):c.8559C>T (p.Leu2853=) rs778576181
NM_001999.4(FBN2):c.857T>C (p.Ile286Thr)
NM_001999.4(FBN2):c.8584A>C (p.Lys2862Gln)
NM_001999.4(FBN2):c.8585A>C (p.Lys2862Thr)
NM_001999.4(FBN2):c.8587C>T (p.Leu2863Phe)
NM_001999.4(FBN2):c.8589C>T (p.Leu2863=) rs886038784
NM_001999.4(FBN2):c.8606C>A (p.Thr2869Lys) rs762956345
NM_001999.4(FBN2):c.8607A>G (p.Thr2869=)
NM_001999.4(FBN2):c.8623A>G (p.Ile2875Val) rs1554115164
NM_001999.4(FBN2):c.8635AAG[2] (p.Lys2881del)
NM_001999.4(FBN2):c.8639A>G (p.Lys2880Arg) rs1367710207
NM_001999.4(FBN2):c.8664G>C (p.Glu2888Asp)
NM_001999.4(FBN2):c.8666G>A (p.Ser2889Asn) rs2126791602
NM_001999.4(FBN2):c.866G>A (p.Gly289Glu) rs1754069364
NM_001999.4(FBN2):c.8677G>A (p.Asp2893Asn) rs748874308
NM_001999.4(FBN2):c.8681A>G (p.Tyr2894Cys) rs779659640
NM_001999.4(FBN2):c.8688A>G (p.Leu2896=) rs1194973560
NM_001999.4(FBN2):c.8695C>G (p.Leu2899Val)
NM_001999.4(FBN2):c.8703G>A (p.Glu2901=) rs1374026282
NM_001999.4(FBN2):c.8731C>A (p.Leu2911Ile) rs887275019
NM_001999.4(FBN2):c.8734T>C (p.Tyr2912His)
NM_001999.4(FBN2):c.8737T>G (p.Ter2913Glu)
NM_001999.4(FBN2):c.875G>C (p.Cys292Ser)
NM_001999.4(FBN2):c.878T>C (p.Ile293Thr)
NM_001999.4(FBN2):c.89C>T (p.Pro30Leu)
NM_001999.4(FBN2):c.905G>A (p.Arg302Lys)
NM_001999.4(FBN2):c.905G>C (p.Arg302Thr) rs863223616
NM_001999.4(FBN2):c.906A>T (p.Arg302Ser) rs1554069994
NM_001999.4(FBN2):c.924A>G (p.Lys308=)
NM_001999.4(FBN2):c.924A>T (p.Lys308Asn)
NM_001999.4(FBN2):c.930T>A (p.Ser310Arg)
NM_001999.4(FBN2):c.93G>C (p.Gln31His) rs371491169
NM_001999.4(FBN2):c.952+14C>G
NM_001999.4(FBN2):c.952+3G>T rs1554069982
NM_001999.4(FBN2):c.952+7CT[2] rs750915525
NM_001999.4(FBN2):c.953-10C>T rs2127000191
NM_001999.4(FBN2):c.953-14C>T
NM_001999.4(FBN2):c.953-18_953-16del
NM_001999.4(FBN2):c.953-9del rs757659311
NM_001999.4(FBN2):c.960T>C (p.Asp320=) rs1581270421
NM_001999.4(FBN2):c.969C>T (p.Ser323=) rs1554067083
NM_001999.4(FBN2):c.991A>G (p.Thr331Ala)
NM_001999.4(FBN2):c.994G>A (p.Gly332Ser) rs2127000101
NM_001999.4(FBN2):c.995G>T (p.Gly332Val)
NM_003036.4(SKI):c.100G>T (p.Gly34Cys) rs387907306
NM_003036.4(SKI):c.1015A>G (p.Thr339Ala)
NM_003036.4(SKI):c.1019C>T (p.Ser340Phe) rs557788926
NM_003036.4(SKI):c.1025A>T (p.Gln342Leu) rs377336741
NM_003036.4(SKI):c.1030C>T (p.Pro344Ser)
NM_003036.4(SKI):c.1035G>A (p.Ala345=)
NM_003036.4(SKI):c.103C>T (p.Pro35Ser) rs397514590
NM_003036.4(SKI):c.1041C>G (p.Ser347=)
NM_003036.4(SKI):c.1043A>C (p.Glu348Ala)
NM_003036.4(SKI):c.104C>A (p.Pro35Gln) rs397514589
NM_003036.4(SKI):c.104C>G (p.Pro35Arg) rs397514589
NM_003036.4(SKI):c.1054C>A (p.Pro352Thr) rs755862763
NM_003036.4(SKI):c.1055C>T (p.Pro352Leu)
NM_003036.4(SKI):c.1056G>A (p.Pro352=)
NM_003036.4(SKI):c.1057T>C (p.Ser353Pro)
NM_003036.4(SKI):c.1061G>T (p.Ser354Ile)
NM_003036.4(SKI):c.1067T>A (p.Leu356Gln) rs1640467596
NM_003036.4(SKI):c.1068G>T (p.Leu356=) rs1057523408
NM_003036.4(SKI):c.1076T>C (p.Leu359Ser)
NM_003036.4(SKI):c.1087T>A (p.Ser363Thr)
NM_003036.4(SKI):c.1091A>T (p.Asn364Ile) rs763338270
NM_003036.4(SKI):c.1095+10G>A
NM_003036.4(SKI):c.1095+11G>A
NM_003036.4(SKI):c.1095+17C>T
NM_003036.4(SKI):c.1095+20G>T
NM_003036.4(SKI):c.1095+5T>C rs2100916508
NM_003036.4(SKI):c.1095+6G>A
NM_003036.4(SKI):c.1095G>A (p.Lys365=)
NM_003036.4(SKI):c.1096-15A>G
NM_003036.4(SKI):c.1096-6C>G
NM_003036.4(SKI):c.1096-8C>G
NM_003036.4(SKI):c.10G>C (p.Ala4Pro) rs1638560343
NM_003036.4(SKI):c.1101G>T (p.Leu367=) rs1411024116
NM_003036.4(SKI):c.1104C>T (p.Gly368=)
NM_003036.4(SKI):c.1114C>T (p.Pro372Ser)
NM_003036.4(SKI):c.1117C>G (p.Arg373Gly) rs749507746
NM_003036.4(SKI):c.111T>C (p.Ala37=) rs2100789581
NM_003036.4(SKI):c.1123C>T (p.Arg375Cys) rs1038237858
NM_003036.4(SKI):c.1125C>A (p.Arg375=)
NM_003036.4(SKI):c.1126C>T (p.Leu376Phe)
NM_003036.4(SKI):c.1128C>A (p.Leu376=)
NM_003036.4(SKI):c.1149C>G (p.Ser383=)
NM_003036.4(SKI):c.1150C>T (p.Pro384Ser) rs1242691039
NM_003036.4(SKI):c.1152C>G (p.Pro384=) rs200160702
NM_003036.4(SKI):c.1166G>T (p.Ser389Ile)
NM_003036.4(SKI):c.1177C>T (p.Leu393Phe)
NM_003036.4(SKI):c.117G>C (p.Ser39=)
NM_003036.4(SKI):c.1185A>G (p.Pro395=)
NM_003036.4(SKI):c.1189C>T (p.Leu397Phe) rs371268096
NM_003036.4(SKI):c.1192C>T (p.Pro398Ser) rs1640476669
NM_003036.4(SKI):c.1194G>A (p.Pro398=)
NM_003036.4(SKI):c.11C>T (p.Ala4Val) rs1085307767
NM_003036.4(SKI):c.1205G>A (p.Arg402Gln) rs557289756
NM_003036.4(SKI):c.1208A>C (p.Asp403Ala)
NM_003036.4(SKI):c.1211+2T>G
NM_003036.4(SKI):c.1211+8G>C rs1411361590
NM_003036.4(SKI):c.1211+9G>T
NM_003036.4(SKI):c.1212-16C>T
NM_003036.4(SKI):c.1212-3C>T
NM_003036.4(SKI):c.1212-6C>T rs752765206
NM_003036.4(SKI):c.1212-7C>T
NM_003036.4(SKI):c.1215C>G (p.Phe405Leu) rs2100918174
NM_003036.4(SKI):c.1230C>T (p.Ser410=)
NM_003036.4(SKI):c.123C>G (p.Arg41=) rs1233566903
NM_003036.4(SKI):c.123C>T (p.Arg41=)
NM_003036.4(SKI):c.1240G>T (p.Ala414Ser)
NM_003036.4(SKI):c.1248G>A (p.Ala416=) rs768317594
NM_003036.4(SKI):c.1248G>T (p.Ala416=)
NM_003036.4(SKI):c.1255G>A (p.Val419Met)
NM_003036.4(SKI):c.1293C>T (p.Ser431=) rs2100918389
NM_003036.4(SKI):c.1298C>G (p.Pro433Arg)
NM_003036.4(SKI):c.1298C>T (p.Pro433Leu) rs748787050
NM_003036.4(SKI):c.1298del (p.Pro433fs)
NM_003036.4(SKI):c.1306G>A (p.Ala436Thr) rs1247637685
NM_003036.4(SKI):c.1307C>T (p.Ala436Val)
NM_003036.4(SKI):c.1308C>A (p.Ala436=)
NM_003036.4(SKI):c.1308C>G (p.Ala436=) rs139034124
NM_003036.4(SKI):c.1311C>G (p.Ala437=) rs140889128
NM_003036.4(SKI):c.1311C>T (p.Ala437=) rs140889128
NM_003036.4(SKI):c.1315G>T (p.Val439Phe) rs575093513
NM_003036.4(SKI):c.1322G>A (p.Arg441Gln)
NM_003036.4(SKI):c.1325C>T (p.Ala442Val)
NM_003036.4(SKI):c.1326C>T (p.Ala442=)
NM_003036.4(SKI):c.1327C>G (p.Pro443Ala) rs1569860183
NM_003036.4(SKI):c.1346G>C (p.Cys449Ser) rs2100918643
NM_003036.4(SKI):c.1350C>T (p.Thr450=)
NM_003036.4(SKI):c.1354C>A (p.Pro452Thr) rs1417738788
NM_003036.4(SKI):c.1363C>T (p.Arg455Trp) rs1640495570
NM_003036.4(SKI):c.1376T>G (p.Val459Gly)
NM_003036.4(SKI):c.137C>T (p.Ala46Val)
NM_003036.4(SKI):c.1388G>A (p.Gly463Glu) rs1640496768
NM_003036.4(SKI):c.138C>G (p.Ala46=) rs745527890
NM_003036.4(SKI):c.1391C>T (p.Ala464Val)
NM_003036.4(SKI):c.1394C>T (p.Pro465Leu)
NM_003036.4(SKI):c.1408C>T (p.Pro470Ser)
NM_003036.4(SKI):c.1410C>A (p.Pro470=)
NM_003036.4(SKI):c.1411G>A (p.Val471Met) rs745717087
NM_003036.4(SKI):c.1418C>T (p.Ala473Val) rs1198385228
NM_003036.4(SKI):c.1419C>T (p.Ala473=) rs748183781
NM_003036.4(SKI):c.1434G>C (p.Lys478Asn)
NM_003036.4(SKI):c.1439CGGAGG[1] (p.Ala482_Glu483del) rs762410895
NM_003036.4(SKI):c.1449G>A (p.Glu483=)
NM_003036.4(SKI):c.144G>A (p.Lys48=)
NM_003036.4(SKI):c.1469A>G (p.Glu490Gly)
NM_003036.4(SKI):c.1474+14G>A rs780072344
NM_003036.4(SKI):c.1474+19C>G rs2100919153
NM_003036.4(SKI):c.1474+7del rs1640502180
NM_003036.4(SKI):c.1475-17C>T
NM_003036.4(SKI):c.1475T>C (p.Phe492Ser)
NM_003036.4(SKI):c.1477A>T (p.Thr493Ser)
NM_003036.4(SKI):c.1478CCT[2] (p.Ser495del)
NM_003036.4(SKI):c.1479C>T (p.Thr493=) rs754922214
NM_003036.4(SKI):c.1482C>T (p.Ser494=)
NM_003036.4(SKI):c.1485_1487del (p.Leu496del) rs1640510054
NM_003036.4(SKI):c.1488G>C (p.Leu496Phe)
NM_003036.4(SKI):c.1493C>T (p.Ser498Leu)
NM_003036.4(SKI):c.1505C>G (p.Pro502Arg)
NM_003036.4(SKI):c.1512T>G (p.Phe504Leu)
NM_003036.4(SKI):c.1514C>T (p.Thr505Ile)
NM_003036.4(SKI):c.1528G>T (p.Ala510Ser)
NM_003036.4(SKI):c.1539G>T (p.Leu513=)
NM_003036.4(SKI):c.1555C>T (p.Arg519Cys) rs775800782
NM_003036.4(SKI):c.1556G>T (p.Arg519Leu) rs376322470
NM_003036.4(SKI):c.1564C>T (p.Pro522Ser) rs774937962
NM_003036.4(SKI):c.1566C>G (p.Pro522=)
NM_003036.4(SKI):c.1567T>G (p.Ser523Ala)
NM_003036.4(SKI):c.1569G>C (p.Ser523=) rs767052019
NM_003036.4(SKI):c.157A>C (p.Lys53Gln)
NM_003036.4(SKI):c.1581TGC[1] (p.Ala530del) rs863223725
NM_003036.4(SKI):c.1582G>C (p.Ala528Pro)
NM_003036.4(SKI):c.1582G>T (p.Ala528Ser)
NM_003036.4(SKI):c.1587G>C (p.Ala529=) rs542301067
NM_003036.4(SKI):c.1589C>T (p.Ala530Val)
NM_003036.4(SKI):c.1592C>T (p.Pro531Leu)
NM_003036.4(SKI):c.1601C>T (p.Ala534Val)
NM_003036.4(SKI):c.160G>A (p.Glu54Lys)
NM_003036.4(SKI):c.1637G>T (p.Arg546Leu)
NM_003036.4(SKI):c.163G>A (p.Ala55Thr) rs769506718
NM_003036.4(SKI):c.1642G>T (p.Ala548Ser) rs1434790266
NM_003036.4(SKI):c.1647G>C (p.Leu549=)
NM_003036.4(SKI):c.1651G>T (p.Gly551Cys) rs1225179301
NM_003036.4(SKI):c.1653C>T (p.Gly551=)
NM_003036.4(SKI):c.1654G>C (p.Gly552Arg)
NM_003036.4(SKI):c.1677A>G (p.Lys559=) rs1569862103
NM_003036.4(SKI):c.1686C>T (p.Phe562=)
NM_003036.4(SKI):c.1690C>G (p.His564Asp) rs1640518223
NM_003036.4(SKI):c.1706T>C (p.Met569Thr)
NM_003036.4(SKI):c.1710C>A (p.Arg570=)
NM_003036.4(SKI):c.1715A>G (p.Lys572Arg)
NM_003036.4(SKI):c.1726A>C (p.Lys576Gln)
NM_003036.4(SKI):c.1728G>A (p.Lys576=)
NM_003036.4(SKI):c.1738G>A (p.Ala580Thr) rs1640519904
NM_003036.4(SKI):c.173_178dup (p.Ala59_Val60insAlaAla)
NM_003036.4(SKI):c.1741C>G (p.Leu581Val)
NM_003036.4(SKI):c.1751A>G (p.Lys584Arg) rs1569862379
NM_003036.4(SKI):c.1754G>A (p.Arg585His) rs1251950898
NM_003036.4(SKI):c.1767+1G>C
NM_003036.4(SKI):c.1767+8G>A rs755258323
NM_003036.4(SKI):c.1768-20G>T rs375518657
NM_003036.4(SKI):c.1768-3C>T
NM_003036.4(SKI):c.1768-4C>G
NM_003036.4(SKI):c.1768-8G>T
NM_003036.4(SKI):c.1774G>C (p.Glu592Gln) rs1569865485
NM_003036.4(SKI):c.1775_1789del (p.Glu592_Val596del) rs1640564388
NM_003036.4(SKI):c.1785C>G (p.Arg595=)
NM_003036.4(SKI):c.1786G>T (p.Val596Leu) rs774196267
NM_003036.4(SKI):c.178G>C (p.Val60Leu)
NM_003036.4(SKI):c.1807C>T (p.Arg603Trp) rs1640565489
NM_003036.4(SKI):c.1818G>A (p.Thr606=) rs377110260
NM_003036.4(SKI):c.1827G>A (p.Lys609=) rs1324710541
NM_003036.4(SKI):c.1828C>T (p.Arg610Cys) rs863223727
NM_003036.4(SKI):c.182C>T (p.Pro61Leu) rs1557806444
NM_003036.4(SKI):c.183G>C (p.Pro61=) rs774187595
NM_003036.4(SKI):c.183G>T (p.Pro61=)
NM_003036.4(SKI):c.1848C>A (p.Ile616=) rs1044806468
NM_003036.4(SKI):c.1848C>G (p.Ile616Met) rs1044806468
NM_003036.4(SKI):c.184G>T (p.Ala62Ser)
NM_003036.4(SKI):c.1861G>A (p.Ala621Thr)
NM_003036.4(SKI):c.1863C>T (p.Ala621=) rs200702159
NM_003036.4(SKI):c.1866G>C (p.Glu622Asp)
NM_003036.4(SKI):c.1871AGA[2] (p.Lys626del) rs863223726
NM_003036.4(SKI):c.1879A>G (p.Met627Val) rs2100924200
NM_003036.4(SKI):c.1887G>A (p.Glu629=) rs771953750
NM_003036.4(SKI):c.1890C>A (p.Ala630=) rs773151547
NM_003036.4(SKI):c.1890C>T (p.Ala630=) rs773151547
NM_003036.4(SKI):c.189G>A (p.Pro63=)
NM_003036.4(SKI):c.1901G>A (p.Arg634Gln)
NM_003036.4(SKI):c.190_191delinsTC (p.Val64Ser)
NM_003036.4(SKI):c.1913A>G (p.Lys638Arg)
NM_003036.4(SKI):c.1918G>A (p.Glu640Lys) rs1640570925
NM_003036.4(SKI):c.191_196dup (p.Val64_Pro65dup) rs1553189874
NM_003036.4(SKI):c.1923G>T (p.Leu641=) rs199666240
NM_003036.4(SKI):c.1932G>A (p.Ala644=) rs1057521646
NM_003036.4(SKI):c.1942C>G (p.Arg648Gly) rs555623960
NM_003036.4(SKI):c.1950C>T (p.Cys650=)
NM_003036.4(SKI):c.195_196delinsAC (p.Ala66Pro)
NM_003036.4(SKI):c.1965G>A (p.Glu655=) rs1475570086
NM_003036.4(SKI):c.1966_1967insTCCCAGCCGGAAAGGCCTTGGAGCAGAAGCCAGGCCCGGGACCACGTTCCGTGCGTGCCCCCCCGA (p.Ala656delinsValProAlaGlyLysAlaLeuGluGlnLysProGlyProGlyProArgSerValArgAlaProProThr)
NM_003036.4(SKI):c.196G>A (p.Ala66Thr)
NM_003036.4(SKI):c.196G>C (p.Ala66Pro) rs1212316098
NM_003036.4(SKI):c.1971C>T (p.Gly657=) rs878854598
NM_003036.4(SKI):c.1972C>T (p.Arg658Cys)
NM_003036.4(SKI):c.1977G>A (p.Leu659=) rs1298626276
NM_003036.4(SKI):c.1981G>A (p.Ala661Thr)
NM_003036.4(SKI):c.1983C>T (p.Ala661=) rs973734662
NM_003036.4(SKI):c.1993G>A (p.Ala665Thr) rs1569866460
NM_003036.4(SKI):c.1998+10T>C
NM_003036.4(SKI):c.1998+1G>T
NM_003036.4(SKI):c.1998+6C>T rs1265118842
NM_003036.4(SKI):c.1999-12G>T
NM_003036.4(SKI):c.1999-14C>G
NM_003036.4(SKI):c.1999-14C>T
NM_003036.4(SKI):c.1999-7C>T
NM_003036.4(SKI):c.1999-9C>G rs369496789
NM_003036.4(SKI):c.199_200delinsAA (p.Ala67Asn)
NM_003036.4(SKI):c.2006A>G (p.Asp669Gly)
NM_003036.4(SKI):c.2007C>G (p.Asp669Glu) rs750838146
NM_003036.4(SKI):c.2007C>T (p.Asp669=) rs750838146
NM_003036.4(SKI):c.2009T>G (p.Leu670Arg) rs1060502673
NM_003036.4(SKI):c.200C>T (p.Ala67Val)
NM_003036.4(SKI):c.2011C>G (p.Gln671Glu)
NM_003036.4(SKI):c.2027A>G (p.His676Arg)
NM_003036.4(SKI):c.2028C>G (p.His676Gln) rs1203179478
NM_003036.4(SKI):c.2032G>A (p.Glu678Lys)
NM_003036.4(SKI):c.2043G>C (p.Arg681=) rs2100925770
NM_003036.4(SKI):c.2053C>T (p.Arg685Trp)
NM_003036.4(SKI):c.2057C>G (p.Ala686Gly)
NM_003036.4(SKI):c.205G>C (p.Glu69Gln)
NM_003036.4(SKI):c.2061C>A (p.Asp687Glu) rs1021794039
NM_003036.4(SKI):c.2061C>T (p.Asp687=)
NM_003036.4(SKI):c.2067G>A (p.Leu689=)
NM_003036.4(SKI):c.2068C>T (p.Arg690Trp)
NM_003036.4(SKI):c.2069G>A (p.Arg690Gln)
NM_003036.4(SKI):c.206A>G (p.Glu69Gly)
NM_003036.4(SKI):c.2076C>T (p.Arg692=)
NM_003036.4(SKI):c.207G>A (p.Glu69=)
NM_003036.4(SKI):c.2081C>T (p.Ala694Val)
NM_003036.4(SKI):c.2082C>T (p.Ala694=)
NM_003036.4(SKI):c.2083C>T (p.Arg695Trp) rs1347331671
NM_003036.4(SKI):c.2091C>T (p.His697=) rs1487847272
NM_003036.4(SKI):c.2092C>G (p.Leu698Val) rs766929334
NM_003036.4(SKI):c.2103G>A (p.Val701=)
NM_003036.4(SKI):c.2109G>A (p.Lys703=)
NM_003036.4(SKI):c.2111A>G (p.Glu704Gly) rs1553201549
NM_003036.4(SKI):c.2112_2113delinsAT (p.Glu704_Leu705=) rs2100925995
NM_003036.4(SKI):c.2120A>G (p.Glu707Gly) rs2100926034
NM_003036.4(SKI):c.2139C>T (p.Ala713=)
NM_003036.4(SKI):c.2141G>T (p.Arg714Leu)
NM_003036.4(SKI):c.2142C>T (p.Arg714=) rs1569868248
NM_003036.4(SKI):c.2144C>T (p.Pro715Leu) rs1640595714
NM_003036.4(SKI):c.2146G>A (p.Glu716Lys) rs1640595885
NM_003036.4(SKI):c.214C>T (p.Pro72Ser)
NM_003036.4(SKI):c.2152_*3dup (p.Ala717_Ter729=) rs1557854927
NM_003036.4(SKI):c.2153C>G (p.Ala718Gly) rs863223721
NM_003036.4(SKI):c.2153C>T (p.Ala718Val)
NM_003036.4(SKI):c.2154_*4dup (p.Ala718_Ter729=) rs1308786369
NM_003036.4(SKI):c.2165G>T (p.Gly722Val) rs1488554459
NM_003036.4(SKI):c.2166C>T (p.Gly722=)
NM_003036.4(SKI):c.2169T>G (p.Ala723=)
NM_003036.4(SKI):c.2172G>C (p.Ala724=) rs879070309
NM_003036.4(SKI):c.2173G>C (p.Glu725Gln) rs1640597058
NM_003036.4(SKI):c.2174A>G (p.Glu725Gly)
NM_003036.4(SKI):c.2175G>A (p.Glu725=) rs1381348497
NM_003036.4(SKI):c.217G>A (p.Val73Met)
NM_003036.4(SKI):c.2182C>G (p.Pro728Ala)
NM_003036.4(SKI):c.2184G>A (p.Pro728=)
NM_003036.4(SKI):c.2185del (p.Ter729ArgextTer?)
NM_003036.4(SKI):c.2186_*9dup (p.Ter729=) rs1640597997
NM_003036.4(SKI):c.220C>G (p.Leu74Val)
NM_003036.4(SKI):c.225C>T (p.His75=) rs1553189880
NM_003036.4(SKI):c.228G>A (p.Leu76=) rs1297091418
NM_003036.4(SKI):c.229C>T (p.Pro77Ser) rs1370601989
NM_003036.4(SKI):c.22C>G (p.Arg8Gly) rs1254990952
NM_003036.4(SKI):c.231C>T (p.Pro77=) rs1638568541
NM_003036.4(SKI):c.240GCC[5] (p.Pro84dup) rs746731483
NM_003036.4(SKI):c.241C>G (p.Pro81Ala) rs778291636
NM_003036.4(SKI):c.248C>T (p.Pro83Leu) rs1060502672
NM_003036.4(SKI):c.254T>G (p.Val85Gly)
NM_003036.4(SKI):c.261C>A (p.Pro87=) rs1257107710
NM_003036.4(SKI):c.265C>T (p.Pro89Ser) rs1638569809
NM_003036.4(SKI):c.267C>T (p.Pro89=)
NM_003036.4(SKI):c.270C>T (p.Phe90=) rs1436770788
NM_003036.4(SKI):c.271T>G (p.Phe91Val) rs1638570021
NM_003036.4(SKI):c.272T>G (p.Phe91Cys)
NM_003036.4(SKI):c.278C>T (p.Pro93Leu) rs749071609
NM_003036.4(SKI):c.279G>A (p.Pro93=) rs1638570161
NM_003036.4(SKI):c.27C>A (p.Gly9=) rs1476360335
NM_003036.4(SKI):c.282C>G (p.Ser94=)
NM_003036.4(SKI):c.304G>A (p.Glu102Lys) rs1638570854
NM_003036.4(SKI):c.311T>C (p.Val104Ala) rs886039149
NM_003036.4(SKI):c.312A>G (p.Val104=) rs368195821
NM_003036.4(SKI):c.313C>T (p.Leu105=)
NM_003036.4(SKI):c.318A>G (p.Glu106=) rs564817940
NM_003036.4(SKI):c.320G>A (p.Gly107Asp)
NM_003036.4(SKI):c.342G>T (p.Val114=) rs1057523880
NM_003036.4(SKI):c.347G>A (p.Gly116Glu) rs387907303
NM_003036.4(SKI):c.349G>A (p.Gly117Ser) rs869312901
NM_003036.4(SKI):c.350G>A (p.Gly117Asp) rs2100790073
NM_003036.4(SKI):c.351C>T (p.Gly117=) rs781703488
NM_003036.4(SKI):c.352G>A (p.Glu118Lys) rs869025525
NM_003036.4(SKI):c.358C>T (p.Arg120Cys) rs1569658411
NM_003036.4(SKI):c.35A>T (p.Gln12Leu)
NM_003036.4(SKI):c.360C>A (p.Arg120=)
NM_003036.4(SKI):c.36G>C (p.Gln12His)
NM_003036.4(SKI):c.381C>T (p.Leu127=) rs371497152
NM_003036.4(SKI):c.383A>T (p.Asn128Ile)
NM_003036.4(SKI):c.399C>T (p.Asp133=) rs937379586
NM_003036.4(SKI):c.405_406delinsTT (p.Ser135_Leu136=) rs2100790167
NM_003036.4(SKI):c.414G>T (p.Gln138His)
NM_003036.4(SKI):c.417C>A (p.Ile139=) rs144874401
NM_003036.4(SKI):c.419A>C (p.Asn140Thr) rs2100790187
NM_003036.4(SKI):c.420C>T (p.Asn140=) rs1013962872
NM_003036.4(SKI):c.423G>C (p.Ala141=)
NM_003036.4(SKI):c.433G>A (p.Glu145Lys)
NM_003036.4(SKI):c.442A>G (p.Ile148Val)
NM_003036.4(SKI):c.444C>T (p.Ile148=) rs1391345174
NM_003036.4(SKI):c.452C>G (p.Ser151Trp)
NM_003036.4(SKI):c.453G>A (p.Ser151=)
NM_003036.4(SKI):c.459C>T (p.Cys153=) rs1638575263
NM_003036.4(SKI):c.463G>T (p.Ala155Ser) rs867726673
NM_003036.4(SKI):c.468C>T (p.Asp156=)
NM_003036.4(SKI):c.471G>C (p.Gln157His)
NM_003036.4(SKI):c.487G>A (p.Val163Ile) rs878854599
NM_003036.4(SKI):c.489C>T (p.Val163=) rs373291824
NM_003036.4(SKI):c.48G>A (p.Gly16=)
NM_003036.4(SKI):c.493G>A (p.Gly165Ser) rs1569658999
NM_003036.4(SKI):c.516C>G (p.Pro172=) rs182513685
NM_003036.4(SKI):c.51G>A (p.Leu17=) rs763997001
NM_003036.4(SKI):c.522C>T (p.Cys174=)
NM_003036.4(SKI):c.525G>A (p.Gly175=)
NM_003036.4(SKI):c.525G>T (p.Gly175=)
NM_003036.4(SKI):c.528C>T (p.Leu176=)
NM_003036.4(SKI):c.531C>T (p.Ile177=) rs1286351303
NM_003036.4(SKI):c.539C>T (p.Thr180Met) rs863223722
NM_003036.4(SKI):c.540G>C (p.Thr180=)
NM_003036.4(SKI):c.547G>A (p.Glu183Lys) rs1290478159
NM_003036.4(SKI):c.570C>T (p.Leu190=) rs1253539827
NM_003036.4(SKI):c.572A>G (p.Tyr191Cys) rs758199656
NM_003036.4(SKI):c.574G>A (p.Gly192Ser) rs1638578159
NM_003036.4(SKI):c.57G>A (p.Lys19=)
NM_003036.4(SKI):c.581C>A (p.Ala194Asp) rs746882046
NM_003036.4(SKI):c.584A>G (p.Tyr195Cys) rs1474048036
NM_003036.4(SKI):c.584A>T (p.Tyr195Phe) rs1474048036
NM_003036.4(SKI):c.585C>T (p.Tyr195=)
NM_003036.4(SKI):c.587C>T (p.Pro196Leu) rs1638578545
NM_003036.4(SKI):c.599A>G (p.Lys200Arg)
NM_003036.4(SKI):c.59C>T (p.Thr20Met) rs1060502671
NM_003036.4(SKI):c.602A>G (p.Lys201Arg) rs2100790534
NM_003036.4(SKI):c.612C>T (p.Ala204=) rs2100790564
NM_003036.4(SKI):c.613G>A (p.Ala205Thr) rs2100790567
NM_003036.4(SKI):c.622G>C (p.Ala208Pro) rs761138564
NM_003036.4(SKI):c.623C>T (p.Ala208Val) rs1276237576
NM_003036.4(SKI):c.628G>T (p.Gly210Cys)
NM_003036.4(SKI):c.631C>T (p.Leu211=)
NM_003036.4(SKI):c.636G>A (p.Glu212=) rs1461255065
NM_003036.4(SKI):c.637C>T (p.Leu213Phe)
NM_003036.4(SKI):c.638_895del (p.Leu213_Ala298del) rs1553189986
NM_003036.4(SKI):c.654C>T (p.Val218=)
NM_003036.4(SKI):c.655C>T (p.Arg219Cys) rs1226163559
NM_003036.4(SKI):c.657C>T (p.Arg219=)
NM_003036.4(SKI):c.672C>T (p.Cys224=)
NM_003036.4(SKI):c.687G>C (p.Lys229Asn) rs750391739
NM_003036.4(SKI):c.68A>C (p.Gln23Pro) rs1557806222
NM_003036.4(SKI):c.6GGC[4] (p.Ala5dup) rs1638560188
NM_003036.4(SKI):c.714C>T (p.Ser238=) rs1569660010
NM_003036.4(SKI):c.717C>T (p.Ser239=)
NM_003036.4(SKI):c.718C>G (p.Pro240Ala)
NM_003036.4(SKI):c.720G>A (p.Pro240=) rs1569660069
NM_003036.4(SKI):c.723C>A (p.Ser241Arg)
NM_003036.4(SKI):c.723C>G (p.Ser241Arg) rs2100790799
NM_003036.4(SKI):c.729C>T (p.Ala243=)
NM_003036.4(SKI):c.742C>T (p.Leu248=)
NM_003036.4(SKI):c.757A>T (p.Met253Leu) rs767352419
NM_003036.4(SKI):c.759G>T (p.Met253Ile)
NM_003036.4(SKI):c.763C>T (p.Pro255Ser)
NM_003036.4(SKI):c.765G>C (p.Pro255=)
NM_003036.4(SKI):c.767C>T (p.Pro256Leu) rs2100790888
NM_003036.4(SKI):c.768G>A (p.Pro256=) rs1057521232
NM_003036.4(SKI):c.768G>T (p.Pro256=)
NM_003036.4(SKI):c.777C>T (p.Phe259=) rs2100790901
NM_003036.4(SKI):c.780G>A (p.Val260=)
NM_003036.4(SKI):c.786C>T (p.His262=)
NM_003036.4(SKI):c.789G>T (p.Ser263=)
NM_003036.4(SKI):c.827T>A (p.Phe276Tyr) rs1557807366
NM_003036.4(SKI):c.828C>T (p.Phe276=)
NM_003036.4(SKI):c.82T>A (p.Ser28Thr)
NM_003036.4(SKI):c.83C>T (p.Ser28Phe) rs1569656949
NM_003036.4(SKI):c.840C>G (p.Asn280Lys)
NM_003036.4(SKI):c.840C>T (p.Asn280=) rs1423154745
NM_003036.4(SKI):c.847G>A (p.Ala283Thr)
NM_003036.4(SKI):c.848C>T (p.Ala283Val)
NM_003036.4(SKI):c.84C>T (p.Ser28=)
NM_003036.4(SKI):c.853A>T (p.Ile285Phe) rs2100791027
NM_003036.4(SKI):c.858G>A (p.Leu286=)
NM_003036.4(SKI):c.863G>T (p.Ser288Ile) rs2100791046
NM_003036.4(SKI):c.867G>A (p.Gln289=)
NM_003036.4(SKI):c.872A>G (p.Tyr291Cys) rs1638585706
NM_003036.4(SKI):c.879C>T (p.Gly293=) rs543890429
NM_003036.4(SKI):c.896G>C (p.Arg299Pro) rs1482824984
NM_003036.4(SKI):c.898C>T (p.Leu300Phe) rs1569660908
NM_003036.4(SKI):c.89G>A (p.Ser30Asn)
NM_003036.4(SKI):c.8C>G (p.Ala3Gly) rs1553189801
NM_003036.4(SKI):c.8C>T (p.Ala3Val) rs1553189801
NM_003036.4(SKI):c.901G>C (p.Gly301Arg)
NM_003036.4(SKI):c.903C>T (p.Gly301=)
NM_003036.4(SKI):c.915C>T (p.Asp305=) rs900879745
NM_003036.4(SKI):c.921G>A (p.Val307=)
NM_003036.4(SKI):c.924G>A (p.Lys308=)
NM_003036.4(SKI):c.937T>A (p.Tyr313Asn)
NM_003036.4(SKI):c.937T>G (p.Tyr313Asp)
NM_003036.4(SKI):c.951C>T (p.Tyr317=)
NM_003036.4(SKI):c.963G>T (p.Val321=)
NM_003036.4(SKI):c.968G>T (p.Arg323Leu) rs1638589251
NM_003036.4(SKI):c.969+10C>T
NM_003036.4(SKI):c.969G>C (p.Arg323=) rs747642639
NM_003036.4(SKI):c.970-13dup
NM_003036.4(SKI):c.970-19A>G
NM_003036.4(SKI):c.970-4G>A
NM_003036.4(SKI):c.972CTC[1] (p.Ser326del)
NM_003036.4(SKI):c.983C>T (p.Pro328Leu)
NM_003036.4(SKI):c.987G>C (p.Pro329=)
NM_003036.4(SKI):c.99C>T (p.Gly33=)
NM_003036.4(SKI):c.9G>C (p.Ala3=)
NM_003238.6(TGFB2):c.1009G>A (p.Glu337Lys) rs1476361240
NM_003238.6(TGFB2):c.100C>T (p.Arg34Cys) rs1571820734
NM_003238.6(TGFB2):c.1021T>C (p.Tyr341His)
NM_003238.6(TGFB2):c.1027G>A (p.Ala343Thr) rs779554274
NM_003238.6(TGFB2):c.1032C>T (p.Asn344=)
NM_003238.6(TGFB2):c.1033T>C (p.Phe345Leu) rs748732392
NM_003238.6(TGFB2):c.1041T>C (p.Ala347=)
NM_003238.6(TGFB2):c.1043G>A (p.Gly348Glu) rs1660008608
NM_003238.6(TGFB2):c.1048T>C (p.Cys350Arg)
NM_003238.6(TGFB2):c.1049G>A (p.Cys350Tyr) rs1558264109
NM_003238.6(TGFB2):c.1062G>A (p.Trp354Ter) rs1558264130
NM_003238.6(TGFB2):c.1069_1072del (p.Asp357fs)
NM_003238.6(TGFB2):c.1070A>G (p.Asp357Gly)
NM_003238.6(TGFB2):c.1071C>T (p.Asp357=)
NM_003238.6(TGFB2):c.1080C>T (p.His360=) rs2102630189
NM_003238.6(TGFB2):c.1086+10C>T
NM_003238.6(TGFB2):c.1086+13C>T
NM_003238.6(TGFB2):c.1086+15T>A
NM_003238.6(TGFB2):c.1086+1G>A rs1571904338
NM_003238.6(TGFB2):c.1100A>G (p.Tyr367Cys)
NM_003238.6(TGFB2):c.1105A>G (p.Thr369Ala)
NM_003238.6(TGFB2):c.1107C>A (p.Thr369=) rs2102634327
NM_003238.6(TGFB2):c.1118A>G (p.Glu373Gly)
NM_003238.6(TGFB2):c.111C>A (p.Ile37=) rs1440677621
NM_003238.6(TGFB2):c.111C>G (p.Ile37Met)
NM_003238.6(TGFB2):c.111C>T (p.Ile37=)
NM_003238.6(TGFB2):c.112G>C (p.Glu38Gln)
NM_003238.6(TGFB2):c.1136G>T (p.Cys379Phe) rs1660141597
NM_003238.6(TGFB2):c.1140C>A (p.Cys380Ter)
NM_003238.6(TGFB2):c.1150G>C (p.Asp384His)
NM_003238.6(TGFB2):c.1162C>T (p.Leu388=)
NM_003238.6(TGFB2):c.116C>T (p.Ala39Val) rs2102527478
NM_003238.6(TGFB2):c.117G>C (p.Ala39=) rs1430240541
NM_003238.6(TGFB2):c.1185C>T (p.Gly395=)
NM_003238.6(TGFB2):c.1204C>T (p.Gln402Ter)
NM_003238.6(TGFB2):c.1221T>G (p.Ile407Met) rs2102634488
NM_003238.6(TGFB2):c.1227G>A (p.Lys409=) rs2102634493
NM_003238.6(TGFB2):c.1230T>C (p.Ser410=) rs2102634500
NM_003238.6(TGFB2):c.1235A>C (p.Lys412Thr) rs2102634517
NM_003238.6(TGFB2):c.1236dup (p.Cys413fs)
NM_003238.6(TGFB2):c.1237T>C (p.Cys413Arg)
NM_003238.6(TGFB2):c.1244A>T (p.Ter415Leu)
NM_003238.6(TGFB2):c.125G>A (p.Gly42Glu) rs1558220033
NM_003238.6(TGFB2):c.133C>T (p.Leu45=) rs1553292084
NM_003238.6(TGFB2):c.137G>A (p.Ser46Asn) rs1318854254
NM_003238.6(TGFB2):c.13G>C (p.Val5Leu) rs1571820552
NM_003238.6(TGFB2):c.142C>T (p.Leu48=) rs2102527511
NM_003238.6(TGFB2):c.143T>G (p.Leu48Arg) rs1553292088
NM_003238.6(TGFB2):c.145A>T (p.Lys49Ter) rs2102527516
NM_003238.6(TGFB2):c.152C>T (p.Thr51Ile)
NM_003238.6(TGFB2):c.159C>T (p.Pro53=)
NM_003238.6(TGFB2):c.164A>G (p.Glu55Gly) rs1656700353
NM_003238.6(TGFB2):c.171T>A (p.Tyr57Ter) rs897070997
NM_003238.6(TGFB2):c.172C>T (p.Pro58Ser)
NM_003238.6(TGFB2):c.173C>T (p.Pro58Leu)
NM_003238.6(TGFB2):c.174T>G (p.Pro58=)
NM_003238.6(TGFB2):c.17T>C (p.Leu6Pro) rs1553292060
NM_003238.6(TGFB2):c.183G>A (p.Glu61=)
NM_003238.6(TGFB2):c.186A>G (p.Glu62=)
NM_003238.6(TGFB2):c.186del (p.Val63fs)
NM_003238.6(TGFB2):c.189C>A (p.Val63=)
NM_003238.6(TGFB2):c.189C>T (p.Val63=) rs774030175
NM_003238.6(TGFB2):c.193C>T (p.Pro65Ser) rs747128130
NM_003238.6(TGFB2):c.194dup (p.Glu66fs) rs2102527595
NM_003238.6(TGFB2):c.196del (p.Glu66fs) rs1553292099
NM_003238.6(TGFB2):c.197_199dup (p.Glu66_Val67insGlu)
NM_003238.6(TGFB2):c.19A>G (p.Ser7Gly)
NM_003238.6(TGFB2):c.208A>G (p.Ile70Val) rs1656702743
NM_003238.6(TGFB2):c.20G>C (p.Ser7Thr) rs765477784
NM_003238.6(TGFB2):c.218G>C (p.Ser73Thr)
NM_003238.6(TGFB2):c.234C>T (p.Leu78=)
NM_003238.6(TGFB2):c.238_239delinsAAG (p.Glu80fs) rs1571821003
NM_003238.6(TGFB2):c.243G>A (p.Lys81=) rs2102527710
NM_003238.6(TGFB2):c.244G>A (p.Ala82Thr)
NM_003238.6(TGFB2):c.245C>T (p.Ala82Val) rs1571821016
NM_003238.6(TGFB2):c.252G>C (p.Arg84=)
NM_003238.6(TGFB2):c.252dup (p.Arg85fs) rs1553292112
NM_003238.6(TGFB2):c.255G>A (p.Arg85=)
NM_003238.6(TGFB2):c.265T>C (p.Cys89Arg)
NM_003238.6(TGFB2):c.268G>C (p.Glu90Gln) rs749309877
NM_003238.6(TGFB2):c.274G>T (p.Glu92Ter) rs1656706610
NM_003238.6(TGFB2):c.285C>A (p.Asp95Glu) rs767393318
NM_003238.6(TGFB2):c.291G>A (p.Glu97=)
NM_003238.6(TGFB2):c.291_293dup (p.Tyr98Ter)
NM_003238.6(TGFB2):c.294_308del (p.Ala100_Tyr104del) rs398122883
NM_003238.6(TGFB2):c.297C>G (p.Tyr99Ter) rs760759052
NM_003238.6(TGFB2):c.299C>A (p.Ala100Asp)
NM_003238.6(TGFB2):c.301A>T (p.Lys101Ter)
NM_003238.6(TGFB2):c.302AGG[1] (p.Glu102del) rs1656708526
NM_003238.6(TGFB2):c.305A>T (p.Glu102Val) rs967581444
NM_003238.6(TGFB2):c.306G>T (p.Glu102Asp)
NM_003238.6(TGFB2):c.30G>C (p.Leu10=) rs1571820584
NM_003238.6(TGFB2):c.322A>T (p.Met108Leu) rs1060501982
NM_003238.6(TGFB2):c.327G>C (p.Pro109=)
NM_003238.6(TGFB2):c.329_330dup (p.Phe111fs) rs2102527910
NM_003238.6(TGFB2):c.334T>C (p.Phe112Leu) rs1553292141
NM_003238.6(TGFB2):c.346+12T>C
NM_003238.6(TGFB2):c.346+12T>G
NM_003238.6(TGFB2):c.346+1G>A rs1553292145
NM_003238.6(TGFB2):c.346+1G>T rs1553292145
NM_003238.6(TGFB2):c.346+4_346+7del rs1558220436
NM_003238.6(TGFB2):c.346+5G>A rs886042712
NM_003238.6(TGFB2):c.346+8C>G rs1553292149
NM_003238.6(TGFB2):c.377A>G (p.Tyr126Cys) rs2102594799
NM_003238.6(TGFB2):c.38A>G (p.His13Arg)
NM_003238.6(TGFB2):c.391C>T (p.Arg131Ter) rs869025531
NM_003238.6(TGFB2):c.392G>A (p.Arg131Gln) rs758366080
NM_003238.6(TGFB2):c.395T>C (p.Phe132Ser) rs1658868781
NM_003238.6(TGFB2):c.399C>T (p.Asp133=)
NM_003238.6(TGFB2):c.404C>G (p.Ser135Ter) rs2102594816
NM_003238.6(TGFB2):c.410T>C (p.Met137Thr) rs1264824521
NM_003238.6(TGFB2):c.417G>A (p.Lys139=)
NM_003238.6(TGFB2):c.441A>T (p.Ala147=) rs1036004441
NM_003238.6(TGFB2):c.444G>T (p.Glu148Asp)
NM_003238.6(TGFB2):c.445T>G (p.Phe149Val) rs896156575
NM_003238.6(TGFB2):c.447_448del (p.Phe149fs) rs1658870968
NM_003238.6(TGFB2):c.449G>A (p.Arg150Lys) rs1658871071
NM_003238.6(TGFB2):c.456dup (p.Arg153fs) rs2102594880
NM_003238.6(TGFB2):c.457del (p.Arg153fs)
NM_003238.6(TGFB2):c.458G>A (p.Arg153His) rs1057518684
NM_003238.6(TGFB2):c.459T>C (p.Arg153=)
NM_003238.6(TGFB2):c.463C>A (p.Gln155Lys)
NM_003238.6(TGFB2):c.486T>C (p.Pro162=)
NM_003238.6(TGFB2):c.490C>T (p.Gln164Ter) rs1658873227
NM_003238.6(TGFB2):c.504A>G (p.Leu168=)
NM_003238.6(TGFB2):c.510+12TTG[11] rs10482769
NM_003238.6(TGFB2):c.510+12TTG[12] rs10482769
NM_003238.6(TGFB2):c.510+12TTG[13] rs10482769
NM_003238.6(TGFB2):c.510+12TTG[14] rs10482769
NM_003238.6(TGFB2):c.510+12TTG[15] rs10482769
NM_003238.6(TGFB2):c.510+12TTG[16]
NM_003238.6(TGFB2):c.510+12TTG[6] rs10482769
NM_003238.6(TGFB2):c.510+12TTG[7] rs10482769
NM_003238.6(TGFB2):c.510+12TTG[8] rs10482769
NM_003238.6(TGFB2):c.510+12TTG[9] rs10482769
NM_003238.6(TGFB2):c.510+9C>T rs1481374757
NM_003238.6(TGFB2):c.511-10del rs376560786
NM_003238.6(TGFB2):c.511-18G>A
NM_003238.6(TGFB2):c.511-8C>T rs770497232
NM_003238.6(TGFB2):c.511-9C>T rs1309139149
NM_003238.6(TGFB2):c.513T>C (p.Ile171=) rs1248612292
NM_003238.6(TGFB2):c.514C>T (p.Leu172Phe) rs1291056000
NM_003238.6(TGFB2):c.52G>T (p.Ala18Ser) rs886045975
NM_003238.6(TGFB2):c.541A>G (p.Thr181Ala)
NM_003238.6(TGFB2):c.542C>T (p.Thr181Ile)
NM_003238.6(TGFB2):c.543C>G (p.Thr181=) rs1446432119
NM_003238.6(TGFB2):c.544C>T (p.Gln182Ter) rs730880221
NM_003238.6(TGFB2):c.546G>A (p.Gln182=) rs1553302931
NM_003238.6(TGFB2):c.553A>G (p.Ile185Val) rs1558262183
NM_003238.6(TGFB2):c.559A>G (p.Ser187Gly) rs759729701
NM_003238.6(TGFB2):c.560G>A (p.Ser187Asn)
NM_003238.6(TGFB2):c.576_577del (p.Arg193fs) rs1064796256
NM_003238.6(TGFB2):c.57C>T (p.Leu19=) rs1224916923
NM_003238.6(TGFB2):c.582A>G (p.Ala194=)
NM_003238.6(TGFB2):c.589G>T (p.Glu197Ter)
NM_003238.6(TGFB2):c.594G>T (p.Trp198Cys) rs2102626457
NM_003238.6(TGFB2):c.598T>G (p.Ser200Ala)
NM_003238.6(TGFB2):c.59G>A (p.Ser20Asn) rs1656695125
NM_003238.6(TGFB2):c.600C>T (p.Ser200=) rs2102626461
NM_003238.6(TGFB2):c.611C>T (p.Thr204Ile) rs1659896577
NM_003238.6(TGFB2):c.619G>A (p.Val207Ile) rs10482810
NM_003238.6(TGFB2):c.635A>G (p.His212Arg)
NM_003238.6(TGFB2):c.638A>G (p.His213Arg)
NM_003238.6(TGFB2):c.638A>T (p.His213Leu)
NM_003238.6(TGFB2):c.643+9C>A
NM_003238.6(TGFB2):c.643G>A (p.Asp215Asn) rs1571901234
NM_003238.6(TGFB2):c.644-14_644-13del
NM_003238.6(TGFB2):c.644-17G>C
NM_003238.6(TGFB2):c.64_66del (p.Ser22del) rs2102527414
NM_003238.6(TGFB2):c.651C>T (p.Asn217=) rs749957893
NM_003238.6(TGFB2):c.655G>T (p.Gly219Ter)
NM_003238.6(TGFB2):c.663A>G (p.Lys221=)
NM_003238.6(TGFB2):c.663A>T (p.Lys221Asn) rs863223791
NM_003238.6(TGFB2):c.668G>A (p.Ser223Asn)
NM_003238.6(TGFB2):c.668G>T (p.Ser223Ile) rs957164399
NM_003238.6(TGFB2):c.678T>A (p.Cys226Ter)
NM_003238.6(TGFB2):c.701C>G (p.Ser234Cys)
NM_003238.6(TGFB2):c.739G>A (p.Glu247Lys) rs1558262454
NM_003238.6(TGFB2):c.743C>T (p.Ala248Val)
NM_003238.6(TGFB2):c.754+7A>G
NM_003238.6(TGFB2):c.755-17A>C
NM_003238.6(TGFB2):c.755-18C>T
NM_003238.6(TGFB2):c.755-5_755-2delinsG rs1553303161
NM_003238.6(TGFB2):c.755-5dup
NM_003238.6(TGFB2):c.755-6T>C
NM_003238.6(TGFB2):c.759T>C (p.Ile253=)
NM_003238.6(TGFB2):c.759_760delinsAT (p.Asp254Tyr) rs1553303162
NM_003238.6(TGFB2):c.765del (p.Thr256fs)
NM_003238.6(TGFB2):c.774A>C (p.Thr258=)
NM_003238.6(TGFB2):c.782G>A (p.Ser261Asn)
NM_003238.6(TGFB2):c.787G>T (p.Asp263Tyr)
NM_003238.6(TGFB2):c.792G>A (p.Gln264=) rs2102628465
NM_003238.6(TGFB2):c.792G>T (p.Gln264His)
NM_003238.6(TGFB2):c.795A>G (p.Lys265=)
NM_003238.6(TGFB2):c.79C>A (p.Leu27Ile)
NM_003238.6(TGFB2):c.809C>G (p.Thr270Ser)
NM_003238.6(TGFB2):c.810T>G (p.Thr270=) rs778961900
NM_003238.6(TGFB2):c.812G>A (p.Arg271Lys)
NM_003238.6(TGFB2):c.81C>A (p.Leu27=)
NM_003238.6(TGFB2):c.821A>C (p.Asn274Thr) rs559315266
NM_003238.6(TGFB2):c.821del (p.Asn274fs) rs863223796
NM_003238.6(TGFB2):c.821dup (p.Asn274fs) rs863223796
NM_003238.6(TGFB2):c.828G>A (p.Gly276=) rs1659959926
NM_003238.6(TGFB2):c.831G>T (p.Lys277Asn) rs1304484008
NM_003238.6(TGFB2):c.833C>T (p.Thr278Ile)
NM_003238.6(TGFB2):c.835C>T (p.Pro279Ser) rs1659961526
NM_003238.6(TGFB2):c.844C>A (p.Leu282Met)
NM_003238.6(TGFB2):c.845T>C (p.Leu282Pro) rs1558263254
NM_003238.6(TGFB2):c.848T>C (p.Leu283Pro) rs2102628571
NM_003238.6(TGFB2):c.852G>C (p.Met284Ile)
NM_003238.6(TGFB2):c.864C>G (p.Ser288=) rs373646036
NM_003238.6(TGFB2):c.868dup (p.Arg290fs) rs2102628609
NM_003238.6(TGFB2):c.874G>A (p.Glu292Lys)
NM_003238.6(TGFB2):c.876G>A (p.Glu292=) rs2102628622
NM_003238.6(TGFB2):c.878C>T (p.Ser293Leu)
NM_003238.6(TGFB2):c.885G>A (p.Gln295=)
NM_003238.6(TGFB2):c.888C>T (p.Thr296=)
NM_003238.6(TGFB2):c.892_901del (p.Arg298fs) rs1553303203
NM_003238.6(TGFB2):c.895C>A (p.Arg299=) rs863223792
NM_003238.6(TGFB2):c.895C>T (p.Arg299Trp) rs863223792
NM_003238.6(TGFB2):c.896G>A (p.Arg299Gln) rs1057521150
NM_003238.6(TGFB2):c.89del (p.Asp30fs)
NM_003238.6(TGFB2):c.904C>A (p.Arg302Ser) rs869312903
NM_003238.6(TGFB2):c.904C>T (p.Arg302Cys) rs869312903
NM_003238.6(TGFB2):c.905G>A (p.Arg302His) rs1553303213
NM_003238.6(TGFB2):c.906T>G (p.Arg302=)
NM_003238.6(TGFB2):c.915T>A (p.Asp305Glu) rs1553303217
NM_003238.6(TGFB2):c.917C>A (p.Ala306Glu) rs989462091
NM_003238.6(TGFB2):c.917C>T (p.Ala306Val)
NM_003238.6(TGFB2):c.918_923dup (p.Tyr308Ter) rs1659965467
NM_003238.6(TGFB2):c.919G>C (p.Ala307Pro)
NM_003238.6(TGFB2):c.921C>T (p.Ala307=) rs2102628692
NM_003238.6(TGFB2):c.921_932+4del
NM_003238.6(TGFB2):c.923A>G (p.Tyr308Cys) rs750774144
NM_003238.6(TGFB2):c.924T>C (p.Tyr308=)
NM_003238.6(TGFB2):c.929T>A (p.Phe310Tyr) rs1659965863
NM_003238.6(TGFB2):c.932+16G>A rs2102628719
NM_003238.6(TGFB2):c.933-14_933-13insG
NM_003238.6(TGFB2):c.933-18T>C
NM_003238.6(TGFB2):c.933-1G>A
NM_003238.6(TGFB2):c.933-2A>C
NM_003238.6(TGFB2):c.933-9T>C rs763680794
NM_003238.6(TGFB2):c.936T>C (p.Asn312=)
NM_003238.6(TGFB2):c.937G>C (p.Val313Leu)
NM_003238.6(TGFB2):c.949T>C (p.Cys317Arg) rs1660004413
NM_003238.6(TGFB2):c.950G>C (p.Cys317Ser) rs1553303351
NM_003238.6(TGFB2):c.958C>T (p.Arg320Cys) rs1553303352
NM_003238.6(TGFB2):c.959del (p.Arg320fs)
NM_003238.6(TGFB2):c.963A>G (p.Pro321=)
NM_003238.6(TGFB2):c.971T>C (p.Ile324Thr) rs2102630032
NM_003238.6(TGFB2):c.975T>C (p.Asp325=)
NM_003238.6(TGFB2):c.976T>C (p.Phe326Leu) rs1660005627
NM_003238.6(TGFB2):c.978C>A (p.Phe326Leu)
NM_003238.6(TGFB2):c.978C>T (p.Phe326=) rs1405556618
NM_003238.6(TGFB2):c.981G>T (p.Lys327Asn) rs1085307561
NM_003238.6(TGFB2):c.982A>G (p.Arg328Gly) rs2102630044
NM_003238.6(TGFB2):c.986dup (p.Asp329fs) rs2102630058
NM_003238.6(TGFB2):c.990A>G (p.Leu330=)
NM_003238.6(TGFB2):c.990dup (p.Gly331fs) rs1571904218
NM_003239.5(TGFB3):c.1001A>G (p.His334Arg) rs1021920873
NM_003239.5(TGFB3):c.1006C>T (p.Pro336Ser)
NM_003239.5(TGFB3):c.1023C>T (p.Ala341=) rs2035149393
NM_003239.5(TGFB3):c.1026C>T (p.Asn342=)
NM_003239.5(TGFB3):c.1034C>G (p.Ser345Ter) rs1060502827
NM_003239.5(TGFB3):c.103A>G (p.Ile35Val)
NM_003239.5(TGFB3):c.1040C>T (p.Pro347Leu) rs755084678
NM_003239.5(TGFB3):c.1055G>A (p.Arg352His) rs755894337
NM_003239.5(TGFB3):c.1059T>C (p.Ser353=)
NM_003239.5(TGFB3):c.1063_1064del (p.Asp355fs) rs2035148543
NM_003239.5(TGFB3):c.1064A>G (p.Asp355Gly) rs2035148476
NM_003239.5(TGFB3):c.1065C>T (p.Asp355=)
NM_003239.5(TGFB3):c.1074C>T (p.His358=) rs2140236128
NM_003239.5(TGFB3):c.107AGA[2] (p.Lys38del) rs1257515732
NM_003239.5(TGFB3):c.1080+14T>A
NM_003239.5(TGFB3):c.1080G>A (p.Thr360=) rs1555360212
NM_003239.5(TGFB3):c.1081-10C>A
NM_003239.5(TGFB3):c.1081-12G>A
NM_003239.5(TGFB3):c.1081-1G>A
NM_003239.5(TGFB3):c.1081-8C>G rs773558367
NM_003239.5(TGFB3):c.1081-8C>T rs773558367
NM_003239.5(TGFB3):c.1081G>T (p.Val361Leu)
NM_003239.5(TGFB3):c.1083G>T (p.Val361=) rs1595336749
NM_003239.5(TGFB3):c.109A>T (p.Lys37Ter) rs2035418540
NM_003239.5(TGFB3):c.1101T>G (p.Thr367=)
NM_003239.5(TGFB3):c.1102_1105del (p.Leu368fs) rs1555360047
NM_003239.5(TGFB3):c.1124C>T (p.Ser375Leu) rs780254258
NM_003239.5(TGFB3):c.1125G>A (p.Ser375=)
NM_003239.5(TGFB3):c.1127C>T (p.Pro376Leu) rs1446755738
NM_003239.5(TGFB3):c.1128T>C (p.Pro376=)
NM_003239.5(TGFB3):c.1130G>A (p.Cys377Tyr) rs1060502828
NM_003239.5(TGFB3):c.1138C>T (p.Pro380Ser) rs1555360033
NM_003239.5(TGFB3):c.1149G>A (p.Leu383=) rs1555360032
NM_003239.5(TGFB3):c.1151A>G (p.Glu384Gly) rs777902992
NM_003239.5(TGFB3):c.1154C>T (p.Pro385Leu)
NM_003239.5(TGFB3):c.1173T>C (p.Tyr391=)
NM_003239.5(TGFB3):c.1175T>A (p.Val392Asp) rs759168311
NM_003239.5(TGFB3):c.1177G>A (p.Gly393Arg)
NM_003239.5(TGFB3):c.1179G>A (p.Gly393=) rs1555360030
NM_003239.5(TGFB3):c.1182G>A (p.Arg394=)
NM_003239.5(TGFB3):c.1183A>C (p.Thr395Pro) rs1566677868
NM_003239.5(TGFB3):c.1183A>G (p.Thr395Ala) rs1566677868
NM_003239.5(TGFB3):c.1184C>A (p.Thr395Asn)
NM_003239.5(TGFB3):c.1186C>T (p.Pro396Ser) rs899613458
NM_003239.5(TGFB3):c.1194G>A (p.Val398=) rs767894523
NM_003239.5(TGFB3):c.1202T>C (p.Leu401Pro)
NM_003239.5(TGFB3):c.1213GTG[1] (p.Val406del)
NM_003239.5(TGFB3):c.1219A>G (p.Lys407Glu) rs1248127840
NM_003239.5(TGFB3):c.1219A>T (p.Lys407Ter) rs1248127840
NM_003239.5(TGFB3):c.1221G>C (p.Lys407Asn)
NM_003239.5(TGFB3):c.1236C>G (p.Ser412Arg)
NM_003239.5(TGFB3):c.1236C>T (p.Ser412=) rs1231643522
NM_003239.5(TGFB3):c.1237T>C (p.Ter413Arg)
NM_003239.5(TGFB3):c.128T>C (p.Ile43Thr) rs765490133
NM_003239.5(TGFB3):c.133G>A (p.Gly45Arg)
NM_003239.5(TGFB3):c.135A>T (p.Gly45=) rs759608485
NM_003239.5(TGFB3):c.139A>T (p.Ile47Phe) rs2140254535
NM_003239.5(TGFB3):c.144G>A (p.Leu48=) rs1479160942
NM_003239.5(TGFB3):c.146G>C (p.Ser49Thr) rs2140254503
NM_003239.5(TGFB3):c.150G>A (p.Lys50=) rs1330137432
NM_003239.5(TGFB3):c.153C>T (p.Leu51=) rs760506739
NM_003239.5(TGFB3):c.154A>T (p.Arg52Trp) rs1441479444
NM_003239.5(TGFB3):c.155G>A (p.Arg52Lys)
NM_003239.5(TGFB3):c.155G>C (p.Arg52Thr) rs2035417379
NM_003239.5(TGFB3):c.162C>T (p.Thr54=)
NM_003239.5(TGFB3):c.164G>C (p.Ser55Thr)
NM_003239.5(TGFB3):c.165C>T (p.Ser55=)
NM_003239.5(TGFB3):c.170_171del (p.Pro57fs)
NM_003239.5(TGFB3):c.170del (p.Pro57fs)
NM_003239.5(TGFB3):c.170dup (p.Pro57_Glu58insTer) rs2140254449
NM_003239.5(TGFB3):c.171T>C (p.Pro57=) rs768225719
NM_003239.5(TGFB3):c.171T>G (p.Pro57=)
NM_003239.5(TGFB3):c.176C>T (p.Pro59Leu) rs1594792447
NM_003239.5(TGFB3):c.179C>G (p.Thr60Arg)
NM_003239.5(TGFB3):c.180G>A (p.Thr60=) rs1594792436
NM_003239.5(TGFB3):c.185T>A (p.Met62Lys)
NM_003239.5(TGFB3):c.186G>A (p.Met62Ile) rs2140254405
NM_003239.5(TGFB3):c.1A>G (p.Met1Val) rs375153534
NM_003239.5(TGFB3):c.210G>C (p.Leu70=) rs2140254337
NM_003239.5(TGFB3):c.219C>T (p.Tyr73=)
NM_003239.5(TGFB3):c.221A>G (p.Asn74Ser) rs1279947435
NM_003239.5(TGFB3):c.229C>T (p.Arg77Trp) rs150817760
NM_003239.5(TGFB3):c.230G>C (p.Arg77Pro) rs1036545575
NM_003239.5(TGFB3):c.231G>A (p.Arg77=)
NM_003239.5(TGFB3):c.237G>A (p.Leu79=) rs2140254299
NM_003239.5(TGFB3):c.237G>T (p.Leu79=)
NM_003239.5(TGFB3):c.258G>A (p.Glu86=) rs761683627
NM_003239.5(TGFB3):c.268G>A (p.Gly90Ser)
NM_003239.5(TGFB3):c.291G>A (p.Glu97=) rs1286432002
NM_003239.5(TGFB3):c.293C>G (p.Ser98Trp)
NM_003239.5(TGFB3):c.300C>T (p.Tyr100=)
NM_003239.5(TGFB3):c.301T>C (p.Tyr101His) rs1380630603
NM_003239.5(TGFB3):c.325G>A (p.Asp109Asn) rs986180095
NM_003239.5(TGFB3):c.325G>T (p.Asp109Tyr)
NM_003239.5(TGFB3):c.335A>G (p.Gln112Arg) rs2035412849
NM_003239.5(TGFB3):c.345G>A (p.Ala115=) rs1060504730
NM_003239.5(TGFB3):c.352+10A>G
NM_003239.5(TGFB3):c.352+13T>C
NM_003239.5(TGFB3):c.352+17G>A
NM_003239.5(TGFB3):c.352+2dup rs1566686800
NM_003239.5(TGFB3):c.353-14G>T rs886050797
NM_003239.5(TGFB3):c.353-14_353-10del rs1422599707
NM_003239.5(TGFB3):c.353-19G>C
NM_003239.5(TGFB3):c.353-1G>C rs1555360883
NM_003239.5(TGFB3):c.353-4C>G
NM_003239.5(TGFB3):c.353-5C>T rs1355725139
NM_003239.5(TGFB3):c.355del (p.Glu119fs) rs2140246004
NM_003239.5(TGFB3):c.361G>C (p.Ala121Pro)
NM_003239.5(TGFB3):c.364G>C (p.Val122Leu)
NM_003239.5(TGFB3):c.368G>T (p.Cys123Phe)
NM_003239.5(TGFB3):c.397C>T (p.Arg133Cys)
NM_003239.5(TGFB3):c.398G>A (p.Arg133His) rs761890018
NM_003239.5(TGFB3):c.406G>A (p.Val136Met)
NM_003239.5(TGFB3):c.409_417del (p.Ser137_Val139del) rs2035294881
NM_003239.5(TGFB3):c.40C>A (p.Leu14Met)
NM_003239.5(TGFB3):c.416T>C (p.Val139Ala) rs1422804503
NM_003239.5(TGFB3):c.41T>C (p.Leu14Pro) rs2140254745
NM_003239.5(TGFB3):c.427A>T (p.Arg143Ter)
NM_003239.5(TGFB3):c.428G>A (p.Arg143Lys) rs532403511
NM_003239.5(TGFB3):c.428G>T (p.Arg143Ile) rs532403511
NM_003239.5(TGFB3):c.431C>A (p.Thr144Asn) rs1594788076
NM_003239.5(TGFB3):c.436del (p.Leu146fs) rs2140245836
NM_003239.5(TGFB3):c.438A>G (p.Leu146=) rs2140245833
NM_003239.5(TGFB3):c.43C>A (p.Leu15Met)
NM_003239.5(TGFB3):c.43C>T (p.Leu15=)
NM_003239.5(TGFB3):c.440T>C (p.Phe147Ser) rs752691299
NM_003239.5(TGFB3):c.441C>T (p.Phe147=) rs560468476
NM_003239.5(TGFB3):c.442C>T (p.Arg148Ter) rs1057523647
NM_003239.5(TGFB3):c.458T>A (p.Val153Asp)
NM_003239.5(TGFB3):c.462G>T (p.Leu154Phe)
NM_003239.5(TGFB3):c.464G>A (p.Arg155Gln) rs925224125
NM_003239.5(TGFB3):c.469C>G (p.Pro157Ala) rs2035293604
NM_003239.5(TGFB3):c.471C>T (p.Pro157=) rs768917005
NM_003239.5(TGFB3):c.472A>G (p.Asn158Asp)
NM_003239.5(TGFB3):c.488G>T (p.Arg163Leu) rs920721092
NM_003239.5(TGFB3):c.496C>T (p.Gln166Ter)
NM_003239.5(TGFB3):c.496_497del (p.Gln166fs)
NM_003239.5(TGFB3):c.498G>A (p.Gln166=) rs886050796
NM_003239.5(TGFB3):c.504C>G (p.Ile168Met) rs148029842
NM_003239.5(TGFB3):c.505G>A (p.Glu169Lys) rs1555360808
NM_003239.5(TGFB3):c.50T>G (p.Phe17Cys)
NM_003239.5(TGFB3):c.516+18G>C rs1594787972
NM_003239.5(TGFB3):c.516+1G>T
NM_003239.5(TGFB3):c.516+4A>T rs1252391096
NM_003239.5(TGFB3):c.516+5C>T rs2035292365
NM_003239.5(TGFB3):c.516+8C>A rs2035292281
NM_003239.5(TGFB3):c.516+9T>C rs2140245664
NM_003239.5(TGFB3):c.517-10T>C rs375794497
NM_003239.5(TGFB3):c.517-13C>T
NM_003239.5(TGFB3):c.517-18C>G
NM_003239.5(TGFB3):c.517-1G>C rs1566682530
NM_003239.5(TGFB3):c.517-2A>G rs2035287906
NM_003239.5(TGFB3):c.517-3T>C rs2035287934
NM_003239.5(TGFB3):c.523C>T (p.Arg175Trp)
NM_003239.5(TGFB3):c.525G>C (p.Arg175=)
NM_003239.5(TGFB3):c.538A>C (p.Ile180Leu) rs2035287327
NM_003239.5(TGFB3):c.547C>T (p.Gln183Ter)
NM_003239.5(TGFB3):c.551G>A (p.Arg184His) rs996991722
NM_003239.5(TGFB3):c.557T>G (p.Ile186Ser) rs763289805
NM_003239.5(TGFB3):c.57G>A (p.Thr19=)
NM_003239.5(TGFB3):c.57G>C (p.Thr19=) rs1325304886
NM_003239.5(TGFB3):c.590C>T (p.Ala197Val)
NM_003239.5(TGFB3):c.592G>A (p.Glu198Lys)
NM_003239.5(TGFB3):c.605T>C (p.Phe202Ser) rs2035285904
NM_003239.5(TGFB3):c.611T>C (p.Val204Ala) rs1555360774
NM_003239.5(TGFB3):c.621del (p.Val208fs) rs2140245186
NM_003239.5(TGFB3):c.622G>A (p.Val208Met) rs2035285476
NM_003239.5(TGFB3):c.623T>C (p.Val208Ala)
NM_003239.5(TGFB3):c.625C>T (p.Arg209Cys) rs1331488615
NM_003239.5(TGFB3):c.638del (p.Leu212_Leu213insTer)
NM_003239.5(TGFB3):c.641G>A (p.Arg214Lys)
NM_003239.5(TGFB3):c.644G>C (p.Arg215Thr)
NM_003239.5(TGFB3):c.646+16A>T
NM_003239.5(TGFB3):c.646+17G>T
NM_003239.5(TGFB3):c.646+18A>C
NM_003239.5(TGFB3):c.646+1G>T
NM_003239.5(TGFB3):c.646+9A>G rs903703321
NM_003239.5(TGFB3):c.646G>A (p.Glu216Lys) rs2140245156
NM_003239.5(TGFB3):c.647-17T>C rs937023243
NM_003239.5(TGFB3):c.647A>G (p.Glu216Gly)
NM_003239.5(TGFB3):c.653A>T (p.Asn218Ile) rs2140240288
NM_003239.5(TGFB3):c.656T>C (p.Leu219Ser)
NM_003239.5(TGFB3):c.66C>T (p.Leu22=)
NM_003239.5(TGFB3):c.680G>A (p.Cys227Tyr) rs1280447804
NM_003239.5(TGFB3):c.684A>G (p.Pro228=) rs745821422
NM_003239.5(TGFB3):c.705T>G (p.Asn235Lys)
NM_003239.5(TGFB3):c.706G>A (p.Gly236Arg) rs2035212440
NM_003239.5(TGFB3):c.708A>G (p.Gly236=) rs2035212392
NM_003239.5(TGFB3):c.711T>C (p.Asp237=) rs1206735679
NM_003239.5(TGFB3):c.713T>C (p.Ile238Thr) rs2140240237
NM_003239.5(TGFB3):c.714C>T (p.Ile238=)
NM_003239.5(TGFB3):c.716T>C (p.Leu239Pro)
NM_003239.5(TGFB3):c.722del (p.Asn241fs)
NM_003239.5(TGFB3):c.723del (p.Asn241fs) rs2140240223
NM_003239.5(TGFB3):c.727C>A (p.His243Asn) rs1045402283
NM_003239.5(TGFB3):c.735G>T (p.Val245=)
NM_003239.5(TGFB3):c.742A>G (p.Ile248Val) rs2035211931
NM_003239.5(TGFB3):c.742A>T (p.Ile248Phe)
NM_003239.5(TGFB3):c.750C>T (p.Phe250=) rs2140240196
NM_003239.5(TGFB3):c.754+11G>T
NM_003239.5(TGFB3):c.754+1G>A
NM_003239.5(TGFB3):c.754+5C>T rs754211381
NM_003239.5(TGFB3):c.754+6_754+10del rs1414628117
NM_003239.5(TGFB3):c.755-10C>T
NM_003239.5(TGFB3):c.755-14C>T
NM_003239.5(TGFB3):c.755-16del
NM_003239.5(TGFB3):c.755-18T>C
NM_003239.5(TGFB3):c.755-1G>A
NM_003239.5(TGFB3):c.755-6C>G rs1283455840
NM_003239.5(TGFB3):c.756C>A (p.Gly252=)
NM_003239.5(TGFB3):c.756C>T (p.Gly252=) rs369435862
NM_003239.5(TGFB3):c.764A>G (p.Asn255Ser)
NM_003239.5(TGFB3):c.777T>C (p.His259=) rs1595339249
NM_003239.5(TGFB3):c.779G>A (p.Gly260Asp) rs2140238325
NM_003239.5(TGFB3):c.781C>T (p.Arg261Cys) rs560321456
NM_003239.5(TGFB3):c.782G>A (p.Arg261His) rs547264290
NM_003239.5(TGFB3):c.795G>A (p.Gly265=) rs1213571239
NM_003239.5(TGFB3):c.797G>T (p.Arg266Leu) rs142069844
NM_003239.5(TGFB3):c.810G>A (p.Gln270=) rs1595339194
NM_003239.5(TGFB3):c.830A>G (p.His277Arg) rs1382239332
NM_003239.5(TGFB3):c.830_832del (p.His277del) rs1555360376
NM_003239.5(TGFB3):c.832C>T (p.Leu278=) rs2035182890
NM_003239.5(TGFB3):c.835A>C (p.Ile279Leu)
NM_003239.5(TGFB3):c.837C>T (p.Ile279=)
NM_003239.5(TGFB3):c.838C>T (p.Leu280Phe)
NM_003239.5(TGFB3):c.83C>T (p.Thr28Ile) rs2035419470
NM_003239.5(TGFB3):c.842T>C (p.Met281Thr) rs1325349711
NM_003239.5(TGFB3):c.864C>T (p.Leu288=)
NM_003239.5(TGFB3):c.865G>A (p.Asp289Asn)
NM_003239.5(TGFB3):c.866A>G (p.Asp289Gly)
NM_003239.5(TGFB3):c.878del (p.Gln293fs)
NM_003239.5(TGFB3):c.883_884del (p.Gly295fs) rs1060502826
NM_003239.5(TGFB3):c.886_893dup (p.Lys298fs) rs1555360368
NM_003239.5(TGFB3):c.891G>T (p.Arg297Ser) rs773168068
NM_003239.5(TGFB3):c.892A>C (p.Lys298Gln) rs2035181062
NM_003239.5(TGFB3):c.898C>T (p.Arg300Trp) rs796051885
NM_003239.5(TGFB3):c.899G>A (p.Arg300Gln) rs587777617
NM_003239.5(TGFB3):c.901G>A (p.Ala301Thr) rs2035180741
NM_003239.5(TGFB3):c.907G>C (p.Asp303His) rs2035180646
NM_003239.5(TGFB3):c.912dup (p.Asn305fs)
NM_003239.5(TGFB3):c.914A>C (p.Asn305Thr) rs369281541
NM_003239.5(TGFB3):c.916del (p.Tyr306fs) rs1555360362
NM_003239.5(TGFB3):c.921C>T (p.Cys307=) rs575379914
NM_003239.5(TGFB3):c.926+11G>A rs2035179873
NM_003239.5(TGFB3):c.926+11del rs2140238030
NM_003239.5(TGFB3):c.926+12C>T
NM_003239.5(TGFB3):c.926+19G>C
NM_003239.5(TGFB3):c.926+19_926+30del
NM_003239.5(TGFB3):c.926+1G>A rs2035180096
NM_003239.5(TGFB3):c.926+1G>T rs2035180096
NM_003239.5(TGFB3):c.926+9G>A rs771442662
NM_003239.5(TGFB3):c.926G>A (p.Arg309His) rs1057524768
NM_003239.5(TGFB3):c.927-10T>G rs2140236310
NM_003239.5(TGFB3):c.927-13dup rs1303198865
NM_003239.5(TGFB3):c.927-14G>A
NM_003239.5(TGFB3):c.927-15T>C
NM_003239.5(TGFB3):c.927-1G>C rs767548724
NM_003239.5(TGFB3):c.927-6T>A rs1555360247
NM_003239.5(TGFB3):c.927-6T>C
NM_003239.5(TGFB3):c.927-7G>A rs2140236302
NM_003239.5(TGFB3):c.929A>C (p.Asn310Thr) rs1194831540
NM_003239.5(TGFB3):c.934G>A (p.Glu312Lys)
NM_003239.5(TGFB3):c.934GAG[1] (p.Glu313del) rs760903557
NM_003239.5(TGFB3):c.946T>C (p.Cys316Arg) rs2035150933
NM_003239.5(TGFB3):c.951G>A (p.Val317=)
NM_003239.5(TGFB3):c.952C>T (p.Arg318Cys) rs2140236263
NM_003239.5(TGFB3):c.953G>A (p.Arg318His)
NM_003239.5(TGFB3):c.954C>T (p.Arg318=) rs1595337745
NM_003239.5(TGFB3):c.956C>T (p.Pro319Leu) rs1595337739
NM_003239.5(TGFB3):c.95_96insA (p.Phe32fs)
NM_003239.5(TGFB3):c.973C>A (p.Arg325=)
NM_003239.5(TGFB3):c.973C>T (p.Arg325Ter) rs1555360229
NM_003239.5(TGFB3):c.974G>A (p.Arg325Gln) rs771391164
NM_003239.5(TGFB3):c.985G>C (p.Gly329Arg)
NM_003239.5(TGFB3):c.985G>T (p.Gly329Cys) rs2035150012
NM_003239.5(TGFB3):c.986G>C (p.Gly329Ala) rs772698647
NM_003239.5(TGFB3):c.989G>A (p.Trp330Ter) rs1555360222
NM_003239.5(TGFB3):c.990G>A (p.Trp330Ter) rs2140236217
NM_003239.5(TGFB3):c.996G>A (p.Trp332Ter) rs2140236210
NM_003239.5(TGFB3):c.997G>A (p.Val333Ile)
NM_005585.5(SMAD6):c.42G>A (p.Trp14Ter) rs1246889300

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