ClinVar Miner

List of variants in gene FBN1 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1394
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000138.5(FBN1):c.248-103T>C rs1018148 0.92308
NM_000138.5(FBN1):c.6314-64A>G rs2042746 0.89679
NM_000138.5(FBN1):c.*730G>T rs13598 0.89602
NM_000138.5(FBN1):c.8227-247T>C rs8023401 0.89545
NM_000138.5(FBN1):c.7571-113C>A rs1820488 0.89433
NM_000138.5(FBN1):c.*2158G>A rs11070641 0.75090
NM_000138.5(FBN1):c.6997+272G>A rs3929051 0.74907
NM_000138.5(FBN1):c.*1575T>G rs4775760 0.68134
NM_000138.5(FBN1):c.6997+17C>G rs363832 0.67656
NM_000138.5(FBN1):c.5672-255T>C rs2303500 0.66493
NM_000138.5(FBN1):c.6037+54T>A rs2303502 0.65707
NM_000138.5(FBN1):c.5545+270G>T rs2245752 0.65571
NM_000138.5(FBN1):c.6163+293G>A rs1426718 0.65146
NM_000138.5(FBN1):c.8052-266A>G rs16960901 0.65046
NM_000138.5(FBN1):c.*314C>T rs1042078 0.63415
NM_000138.5(FBN1):c.-181-192C>T rs2070768 0.53615
NM_000138.5(FBN1):c.6739+295G>A rs8034591 0.50419
NM_000138.5(FBN1):c.2855-288A>G rs11635140 0.50320
NM_000138.5(FBN1):c.2854+161A>G rs11070644 0.37465
NM_000138.5(FBN1):c.1588+109C>T rs2306352 0.37302
NM_000138.5(FBN1):c.2168-46A>G rs140605 0.35180
NM_000138.5(FBN1):c.4942+305A>G rs7171359 0.34883
NM_000138.5(FBN1):c.5224+111A>G rs9806595 0.32313
NM_000138.5(FBN1):c.1875T>C (p.Asn625=) rs25458 0.25074
NM_000138.5(FBN1):c.1961-201G>A rs12904033 0.25057
NM_000138.5(FBN1):c.2113+107C>T rs16961033 0.23099
NM_000138.5(FBN1):c.1838-80G>T rs8037304 0.23046
NM_000138.5(FBN1):c.3337+221T>G rs7176364 0.20159
NM_000138.5(FBN1):c.1469-162A>G rs8034829 0.16794
NM_000138.5(FBN1):c.1148-271A>G rs57829342 0.16784
NM_000138.5(FBN1):c.3464-5G>A rs11853943 0.16287
NM_000138.5(FBN1):c.989-93C>A rs2413907 0.14777
NM_000138.5(FBN1):c.1714+306G>A rs8030753 0.14765
NM_000138.5(FBN1):c.5065+282A>G rs56286136 0.13218
NM_000138.5(FBN1):c.2677+75A>G rs6493325 0.12352
NM_000138.5(FBN1):c.988+289T>A rs17362691 0.12273
NM_000138.5(FBN1):c.6496+128A>G rs363820 0.11441
NM_000138.5(FBN1):c.2729-132A>G rs34837775 0.10972
NM_000138.5(FBN1):c.3964+161G>T rs34070783 0.10943
NM_000138.5(FBN1):c.3838+222G>A rs17458846 0.10934
NM_000138.5(FBN1):c.1960+98A>T rs35464791 0.10926
NM_000138.5(FBN1):c.4460-166C>T rs11855195 0.09937
NM_000138.5(FBN1):c.4337-55T>A rs75227249 0.09821
NM_000138.5(FBN1):c.4943-318G>C rs34539187 0.09806
NM_000138.5(FBN1):c.5297-125C>T rs28444298 0.08355
NM_000138.5(FBN1):c.863-283C>T rs73394223 0.08351
NM_000138.5(FBN1):c.5546-311C>T rs79307111 0.07527
NM_000138.5(FBN1):c.5066-35C>T rs77105137 0.07470
NM_000138.5(FBN1):c.5066-93A>G rs16960972 0.07131
NM_000138.5(FBN1):c.156G>T (p.Ala52=) rs25398 0.06859
NM_000138.4(FBN1):c.-388C>T rs3825792 0.06008
NM_000138.5(FBN1):c.6379+115C>T rs1991330 0.05684
NM_000138.5(FBN1):c.1328-144T>C rs16961071 0.05151
NM_000138.5(FBN1):c.5066-282A>G rs55681494 0.04758
NM_000138.5(FBN1):c.5546-303G>A rs16960962 0.04757
NM_000138.5(FBN1):c.1960+76G>A rs17361868 0.04650
NM_000138.5(FBN1):c.3965-331G>A rs11070643 0.03329
NM_000138.5(FBN1):c.6497-23G>C rs3825962 0.03208
NM_000138.5(FBN1):c.*2040T>C rs73390272 0.03120
NM_000138.5(FBN1):c.*1959G>A rs12050562 0.03119
NM_000138.5(FBN1):c.6855T>C (p.Asp2285=) rs363836 0.02755
NM_000138.5(FBN1):c.6617-21A>T rs363823 0.02754
NM_000138.5(FBN1):c.6872-243T>C rs12594736 0.02752
NM_000138.5(FBN1):c.7571-76T>A rs73390302 0.02587
NM_000138.5(FBN1):c.6888G>A (p.Gln2296=) rs363830 0.02418
NM_000138.5(FBN1):c.5917+249A>G rs1426716 0.02360
NM_000138.5(FBN1):c.7454-330G>A rs56746675 0.02327
NM_000138.5(FBN1):c.7205-201G>A rs3752687 0.02326
NM_000138.5(FBN1):c.7453+272_7453+273insC rs146522769 0.02326
NM_000138.5(FBN1):c.7205-177A>G rs3752688 0.02324
NM_000138.5(FBN1):c.7819+8A>C rs363838 0.02324
NM_000138.5(FBN1):c.7205-277T>C rs73392115 0.02320
NM_000138.5(FBN1):c.7204+63C>A rs978558 0.02315
NM_000138.5(FBN1):c.6380-85T>A rs363817 0.02247
NM_000138.5(FBN1):c.4747+68C>T rs2279233 0.02118
NM_000138.5(FBN1):c.3589+52G>T rs55641413 0.02059
NM_000138.5(FBN1):c.4460-262G>A rs148432944 0.02006
NM_000138.5(FBN1):c.5917+314A>G rs118100306 0.02003
NM_000138.5(FBN1):c.5546-171A>T rs75340436 0.01992
NM_000138.5(FBN1):c.5671+188C>T rs12591586 0.01992
NM_000138.5(FBN1):c.5672-205A>G rs2303501 0.01992
NM_000138.5(FBN1):c.5423-338A>T rs35063088 0.01991
NM_000138.5(FBN1):c.5918-183A>G rs56240014 0.01989
NM_000138.5(FBN1):c.6163+130C>T rs2278187 0.01989
NM_000138.5(FBN1):c.5672-63G>T rs363800 0.01987
NM_000138.5(FBN1):c.6038-173G>A rs2278186 0.01987
NM_000138.5(FBN1):c.5788+314A>G rs116519276 0.01986
NM_000138.5(FBN1):c.6037+123A>G rs2303503 0.01986
NM_000138.5(FBN1):c.6164-298G>A rs75690169 0.01975
NM_000138.5(FBN1):c.6872-1056C>G rs76975751 0.01966
NM_000138.5(FBN1):c.2168-234C>T rs73392185 0.01952
NM_000138.5(FBN1):c.1960+30G>A rs25459 0.01932
NM_000138.5(FBN1):c.989-68G>T rs113964612 0.01897
NM_000138.5(FBN1):c.2420-58del rs149403312 0.01826
NM_000138.5(FBN1):c.3589+41C>T rs55651064 0.01798
NM_000138.5(FBN1):c.4943-69A>G rs116727739 0.01775
NM_000138.5(FBN1):c.5546-279G>A rs112898751 0.01772
NM_000138.5(FBN1):c.443-35A>G rs116842662 0.01770
NM_000138.5(FBN1):c.248-198G>A rs76249401 0.01753
NM_000138.5(FBN1):c.1715-286A>G rs60632431 0.01734
NM_000138.5(FBN1):c.1837+208G>T rs73392200 0.01684
NM_000138.5(FBN1):c.247+95A>G rs116726127 0.01590
NM_000138.5(FBN1):c.4460-19A>G rs55840194 0.01556
NM_000138.5(FBN1):c.4583-92C>T rs2279234 0.01553
NM_000138.5(FBN1):c.442+206G>A rs12593662 0.01548
NM_000138.5(FBN1):c.538+256T>C rs74012211 0.01524
NM_000138.5(FBN1):c.3082+6A>G rs79321504 0.01406
NM_000138.5(FBN1):c.1714+90T>A rs75400759 0.01383
NM_000138.5(FBN1):c.2855-294G>A rs74011822 0.01383
NM_000138.5(FBN1):c.*223T>G rs16960899 0.01368
NM_000138.5(FBN1):c.*1989C>T rs56194244 0.01330
NM_000138.5(FBN1):c.*1368A>G rs77212138 0.01328
NM_000138.5(FBN1):c.989-122A>G rs116153781 0.01317
NM_000138.5(FBN1):c.3442C>G (p.Pro1148Ala) rs140598 0.01315
NM_000138.5(FBN1):c.3712+295C>T rs58687755 0.01314
NM_000138.5(FBN1):c.1147+257A>T rs114459469 0.01278
NM_000138.5(FBN1):c.5546-280C>T rs79196792 0.01257
NM_000138.5(FBN1):c.6496+158A>G rs56270063 0.01234
NM_000138.5(FBN1):c.5422+190A>T rs76610457 0.01228
NM_000138.5(FBN1):c.6037+299C>G rs16960948 0.01228
NM_000138.5(FBN1):c.4459+323G>A rs2279236 0.01226
NM_000138.5(FBN1):c.4088-51G>A rs114384790 0.01219
NM_000138.5(FBN1):c.4943-64G>A rs10519176 0.01092
NM_000138.5(FBN1):c.3294C>T (p.Asp1098=) rs140587 0.01051
NM_000138.5(FBN1):c.3338-305G>A rs150018293 0.00875
NM_000138.5(FBN1):c.3965-8T>C rs140637 0.00859
NM_000138.5(FBN1):c.6163+260del rs199530067 0.00847
NM_000138.5(FBN1):c.6163+258A>C rs116833750 0.00846
NM_000138.5(FBN1):c.*867G>T rs189749406 0.00798
NM_000138.5(FBN1):c.8227-103C>T rs73390278 0.00770
NM_000138.5(FBN1):c.862+232C>T rs12324365 0.00770
NM_000138.5(FBN1):c.6740-187A>G rs73392136 0.00769
NM_000138.5(FBN1):c.7819+142G>A rs61076942 0.00768
NM_000138.5(FBN1):c.7205-223T>C rs73392114 0.00764
NM_000138.5(FBN1):c.6872-654T>A rs73392127 0.00763
NM_000138.5(FBN1):c.986T>C (p.Ile329Thr) rs12324002 0.00737
NM_000138.5(FBN1):c.5066-175A>G rs112894337 0.00728
NM_000138.5(FBN1):c.2855-29A>G rs140589 0.00725
NM_000138.5(FBN1):c.2420-141A>G rs7172102 0.00721
NM_000138.5(FBN1):c.6872-944T>C rs74011804 0.00720
NM_000138.5(FBN1):c.863-272T>C rs111621810 0.00718
NM_000138.5(FBN1):c.*2153A>G rs116443051 0.00654
NM_000138.5(FBN1):c.6997+277T>C rs143652283 0.00618
NM_000138.5(FBN1):c.3713-222C>T rs115971707 0.00590
NM_000138.5(FBN1):c.5225-31C>T rs115751161 0.00583
NM_000138.5(FBN1):c.2293+167T>C rs149565203 0.00576
NM_000138.5(FBN1):c.6037+296G>A rs79162789 0.00565
NM_000138.5(FBN1):c.4748-98G>A rs77143634 0.00561
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.5225-78A>C rs148379487 0.00555
NM_000138.5(FBN1):c.5224+161C>T rs114977319 0.00552
NM_000138.5(FBN1):c.5224+160C>A rs115849520 0.00551
NM_000138.5(FBN1):c.5297-328T>C rs140002140 0.00551
NM_000138.5(FBN1):c.4582+150A>G rs144418749 0.00550
NM_000138.5(FBN1):c.7454-90A>G rs116817789 0.00548
NM_000138.5(FBN1):c.442+89G>A rs114317141 0.00545
NM_000138.5(FBN1):c.6164-58G>A rs150882233 0.00541
NM_000138.5(FBN1):c.5297-112C>T rs138943070 0.00538
NM_000138.5(FBN1):c.6393C>T (p.Cys2131=) rs61730051 0.00522
NM_000138.5(FBN1):c.*1201_*1209dup rs569485265 0.00512
NM_000138.5(FBN1):c.8052-189T>C rs147284643 0.00512
NM_000138.5(FBN1):c.5296+242T>C rs112296895 0.00510
NM_000138.5(FBN1):c.4942+141C>T rs117949013 0.00508
NM_000138.5(FBN1):c.7699+297T>G rs140300904 0.00500
NM_000138.5(FBN1):c.3338-202G>T rs114014855 0.00493
NM_000138.5(FBN1):c.3082+150T>C rs115779631 0.00478
NM_000138.5(FBN1):c.443-84G>A rs73394269 0.00477
NM_000138.5(FBN1):c.6163+79C>G rs28730789 0.00469
NM_000138.5(FBN1):c.4337-82A>G rs143726494 0.00468
NM_000138.5(FBN1):c.-181-196G>A rs536964998 0.00454
NM_000138.5(FBN1):c.4087+45A>G rs111676388 0.00441
NM_000138.5(FBN1):c.6594C>T (p.Pro2198=) rs111844882 0.00439
NM_000138.5(FBN1):c.1469-95G>A rs11857671 0.00438
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_000138.5(FBN1):c.4817-36A>G rs142367537 0.00434
NM_000138.5(FBN1):c.7570+63A>G rs143758528 0.00434
NM_000138.5(FBN1):c.3712+215T>C rs144795529 0.00433
NM_000138.5(FBN1):c.4336+254A>G rs111422940 0.00424
NM_000138.5(FBN1):c.165-241C>T rs147108497 0.00421
NM_000138.5(FBN1):c.5917+208T>C rs527977897 0.00420
NM_000138.5(FBN1):c.2113+125G>A rs112825156 0.00419
NM_000138.5(FBN1):c.8051+575A>G rs115852492 0.00383
NM_000138.5(FBN1):c.5422+273A>T rs76788509 0.00381
NM_000138.5(FBN1):c.306C>T (p.Cys102=) rs25388 0.00372
NM_000138.5(FBN1):c.1961-112C>T rs77454691 0.00359
NM_000138.5(FBN1):c.3082+8del rs193922196 0.00359
NM_000138.5(FBN1):c.1589-328G>A rs571122637 0.00350
NM_000138.5(FBN1):c.4337-106A>G rs138315266 0.00347
NM_000138.5(FBN1):c.862+297_862+298del rs559232133 0.00340
NM_000138.5(FBN1):c.2678-15C>T rs181681840 0.00324
NM_000138.5(FBN1):c.1715-49G>A rs146912376 0.00320
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_000138.5(FBN1):c.7454-162G>A rs185133826 0.00295
NM_000138.5(FBN1):c.7497A>G (p.Leu2499=) rs148516442 0.00268
NM_000138.5(FBN1):c.*2524A>G rs75372203 0.00254
NM_000138.5(FBN1):c.2729-131C>T rs191331497 0.00218
NM_000138.5(FBN1):c.8051+448T>A rs182745665 0.00217
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475 0.00168
NM_000138.5(FBN1):c.2420-8T>C rs140582 0.00163
NM_000138.5(FBN1):c.248-44G>A rs186322296 0.00162
NM_000138.5(FBN1):c.3069G>A (p.Lys1023=) rs199789628 0.00148
NM_000138.5(FBN1):c.8502T>C (p.Thr2834=) rs363847 0.00148
NM_000138.5(FBN1):c.3463+3A>G rs80344206 0.00128
NM_000138.5(FBN1):c.6073G>T (p.Ala2025Ser) rs113577372 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_000138.5(FBN1):c.6681A>C (p.Ser2227=) rs363824 0.00109
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr) rs112287730 0.00107
NM_000138.5(FBN1):c.6837G>A (p.Gly2279=) rs140584234 0.00094
NM_000138.5(FBN1):c.783T>C (p.Asn261=) rs113721547 0.00091
NM_000138.5(FBN1):c.6987C>G (p.Asp2329Glu) rs363831 0.00089
NM_000138.5(FBN1):c.6616+17G>A rs363822 0.00086
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_000138.5(FBN1):c.2934C>G (p.Asp978Glu) rs138438849 0.00070
NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp) rs61746008 0.00070
NM_000138.5(FBN1):c.3077T>C (p.Phe1026Ser) rs200381100 0.00067
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_000138.5(FBN1):c.4683C>T (p.Ser1561=) rs148024160 0.00053
NM_000138.5(FBN1):c.7346A>G (p.Asn2449Ser) rs146166400 0.00049
NM_000138.5(FBN1):c.5065+10A>G rs375945405 0.00048
NM_000138.5(FBN1):c.5296+14G>A rs140650 0.00045
NM_000138.5(FBN1):c.7098C>T (p.Asp2366=) rs1005074 0.00044
NM_000138.5(FBN1):c.3890A>G (p.Glu1297Gly) rs200342067 0.00043
NM_000138.5(FBN1):c.2148A>G (p.Gly716=) rs141039922 0.00042
NM_000138.5(FBN1):c.2895G>A (p.Glu965=) rs140591 0.00038
NM_000138.5(FBN1):c.1265G>A (p.Gly422Glu) rs139968089 0.00035
NM_000138.5(FBN1):c.5788+10C>A rs371560107 0.00032
NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile) rs183306990 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_000138.5(FBN1):c.7072G>A (p.Val2358Ile) rs140537304 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_000138.5(FBN1):c.7338C>T (p.Asn2446=) rs140178192 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_000138.5(FBN1):c.6314-15G>A rs200841830 0.00023
NM_000138.5(FBN1):c.6705A>C (p.Gly2235=) rs2229326 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.902G>T (p.Gly301Val) rs142888621 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_000138.5(FBN1):c.3454G>A (p.Ala1152Thr) rs140890215 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_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_000138.5(FBN1):c.3936C>T (p.Ser1312=) rs779913610 0.00014
NM_000138.5(FBN1):c.5917+3A>G rs202158568 0.00014
NM_000138.5(FBN1):c.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_000138.5(FBN1):c.6054C>T (p.Val2018=) rs542953863 0.00013
NM_000138.5(FBN1):c.8232G>A (p.Gln2744=) rs376119827 0.00013
NM_000138.5(FBN1):c.185G>A (p.Arg62His) rs145942328 0.00012
NM_000138.5(FBN1):c.6576C>T (p.Cys2192=) rs369058466 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.7560G>A (p.Thr2520=) rs760425899 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_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.5225-13T>G rs367786211 0.00009
NM_000138.5(FBN1):c.5296+12C>T rs566030960 0.00009
NM_000138.5(FBN1):c.7660C>T (p.Arg2554Trp) rs369294972 0.00009
NM_000138.5(FBN1):c.942A>G (p.Lys314=) rs376965275 0.00009
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.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_000138.5(FBN1):c.1327+12A>G rs764788168 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.6942C>T (p.Tyr2314=) rs372967546 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.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.4875C>G (p.Thr1625=) rs140628 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.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.7902C>T (p.Pro2634=) rs138621371 0.00006
NM_000138.5(FBN1):c.7999G>A (p.Glu2667Lys) rs149062442 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_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.466A>C (p.Asn156His) rs746352371 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.7820-4G>A rs750036723 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.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.1885G>A (p.Val629Ile) rs140503215 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.2596A>G (p.Ile866Val) rs794728329 0.00004
NM_000138.5(FBN1):c.2637C>T (p.Leu879=) rs202163602 0.00004
NM_000138.5(FBN1):c.3415G>C (p.Glu1139Gln) rs780972853 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.3896C>T (p.Thr1299Met) rs774851476 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.4337-9C>T rs201001403 0.00004
NM_000138.5(FBN1):c.4804G>A (p.Val1602Ile) rs780957696 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.6052G>A (p.Val2018Ile) rs363802 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.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.8308C>T (p.His2770Tyr) rs774658482 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_000138.5(FBN1):c.139G>A (p.Gly47Ser) rs762400500 0.00003
NM_000138.5(FBN1):c.1668G>A (p.Val556=) rs761662654 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.2658G>A (p.Pro886=) rs193922192 0.00003
NM_000138.5(FBN1):c.2729-8C>G rs775257418 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.3389A>G (p.His1130Arg) rs747189975 0.00003
NM_000138.5(FBN1):c.3455C>T (p.Ala1152Val) rs539103389 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.4210+10C>T rs200548889 0.00003
NM_000138.5(FBN1):c.4413G>A (p.Glu1471=) rs756143911 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.4650C>T (p.Ser1550=) rs933962712 0.00003
NM_000138.5(FBN1):c.5066-7C>G rs377369765 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.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.7241G>A (p.Arg2414Gln) rs143863014 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.7684G>A (p.Gly2562Ser) rs1397580172 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_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.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.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.2854+5A>G rs762989672 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.3026C>G (p.Pro1009Arg) rs148076256 0.00002
NM_000138.5(FBN1):c.3374G>A (p.Arg1125Gln) rs768831064 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.346+6T>G rs371159129 0.00002
NM_000138.5(FBN1):c.4358C>T (p.Pro1453Leu) rs368650399 0.00002
NM_000138.5(FBN1):c.467A>G (p.Asn156Ser) rs779490973 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.5518C>T (p.Arg1840Cys) rs765387131 0.00002
NM_000138.5(FBN1):c.5788+19G>A rs758996081 0.00002
NM_000138.5(FBN1):c.5918-12T>G rs751115639 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.6387C>T (p.Asp2129=) rs147342485 0.00002
NM_000138.5(FBN1):c.6534T>A (p.Asn2178Lys) rs770257902 0.00002
NM_000138.5(FBN1):c.7400A>G (p.Gln2467Arg) rs770839761 0.00002
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054 0.00002
NM_000138.5(FBN1):c.8227-10G>A rs765093559 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.8G>C (p.Arg3Pro) rs149929989 0.00002
NM_000138.5(FBN1):c.-25C>T rs973269130 0.00001
NM_000138.5(FBN1):c.-28C>T rs780163247 0.00001
NM_000138.5(FBN1):c.1150G>A (p.Asp384Asn) rs1405173549 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.1454G>T (p.Arg485Leu) rs371985966 0.00001
NM_000138.5(FBN1):c.1471G>A (p.Val491Ile) rs373751659 0.00001
NM_000138.5(FBN1):c.1529C>T (p.Ser510Leu) rs776942896 0.00001
NM_000138.5(FBN1):c.1586G>A (p.Arg529Gln) rs1441536824 0.00001
NM_000138.5(FBN1):c.1634G>A (p.Arg545His) rs193922179 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.1715-12T>C rs1057521270 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+9T>C rs56102085 0.00001
NM_000138.5(FBN1):c.1844A>G (p.Asn615Ser) rs397515763 0.00001
NM_000138.5(FBN1):c.1856C>A (p.Thr619Asn) rs377686210 0.00001
NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys) rs727503057 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.1991G>A (p.Gly664Glu) rs1436966674 0.00001
NM_000138.5(FBN1):c.2017C>T (p.Pro673Ser) rs766346620 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.2349T>C (p.Asn783=) rs1057522903 0.00001
NM_000138.5(FBN1):c.2393A>G (p.Tyr798Cys) rs1064793112 0.00001
NM_000138.5(FBN1):c.2449A>G (p.Ile817Val) rs965020667 0.00001
NM_000138.5(FBN1):c.247+3A>G rs201854371 0.00001
NM_000138.5(FBN1):c.2531T>C (p.Ile844Thr) rs751564716 0.00001
NM_000138.5(FBN1):c.2540-13C>T rs1057522904 0.00001
NM_000138.5(FBN1):c.2629T>G (p.Ser877Ala) rs1475934502 0.00001
NM_000138.5(FBN1):c.2634C>T (p.Ser878=) rs770395971 0.00001
NM_000138.5(FBN1):c.2683A>G (p.Ile895Val) rs772308703 0.00001
NM_000138.5(FBN1):c.2713G>A (p.Gly905Arg) rs756111066 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.287G>C (p.Arg96Thr) rs794728291 0.00001
NM_000138.5(FBN1):c.2886C>T (p.Tyr962=) rs772108557 0.00001
NM_000138.5(FBN1):c.2926C>T (p.Arg976Cys) rs548296552 0.00001
NM_000138.5(FBN1):c.297G>A (p.Met99Ile) rs1314594090 0.00001
NM_000138.5(FBN1):c.3089A>G (p.Asn1030Ser) rs375996640 0.00001
NM_000138.5(FBN1):c.3184G>A (p.Asp1062Asn) rs758366498 0.00001
NM_000138.5(FBN1):c.3282A>G (p.Glu1094=) rs773891478 0.00001
NM_000138.5(FBN1):c.3337+20A>G rs757193641 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.3409C>T (p.Arg1137Cys) rs1439487763 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.3522C>T (p.Leu1174=) rs778312047 0.00001
NM_000138.5(FBN1):c.353A>G (p.His118Arg) rs765503809 0.00001
NM_000138.5(FBN1):c.3570C>T (p.Pro1190=) rs188317014 0.00001
NM_000138.5(FBN1):c.3593T>C (p.Ile1198Thr) rs755375255 0.00001
NM_000138.5(FBN1):c.365G>A (p.Arg122His) rs1010750845 0.00001
NM_000138.5(FBN1):c.3688A>C (p.Met1230Leu) rs759424465 0.00001
NM_000138.5(FBN1):c.3718G>A (p.Asp1240Asn) rs573187346 0.00001
NM_000138.5(FBN1):c.3797A>T (p.Tyr1266Phe) rs200283837 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.4014A>G (p.Val1338=) rs763716418 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.4359G>A (p.Pro1453=) rs748551052 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.451G>C (p.Glu151Gln) rs1180715983 0.00001
NM_000138.5(FBN1):c.4527T>C (p.Tyr1509=) rs776021250 0.00001
NM_000138.5(FBN1):c.4568G>A (p.Arg1523Gln) rs201546777 0.00001
NM_000138.5(FBN1):c.4586C>A (p.Thr1529Asn) rs794728227 0.00001
NM_000138.5(FBN1):c.4598A>G (p.Asn1533Ser) rs1254024310 0.00001
NM_000138.5(FBN1):c.4736C>T (p.Ala1579Val) rs772009116 0.00001
NM_000138.5(FBN1):c.4738G>A (p.Val1580Met) rs794728230 0.00001
NM_000138.5(FBN1):c.4748-7T>C rs1555397026 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.4931G>A (p.Arg1644Gln) rs768366890 0.00001
NM_000138.5(FBN1):c.5065+5G>A rs773660804 0.00001
NM_000138.5(FBN1):c.5142G>A (p.Met1714Ile) rs368287795 0.00001
NM_000138.5(FBN1):c.5280T>C (p.Tyr1760=) rs730880103 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.5347A>T (p.Ile1783Phe) rs1232797551 0.00001
NM_000138.5(FBN1):c.5413G>A (p.Val1805Ile) rs745636786 0.00001
NM_000138.5(FBN1):c.5430C>T (p.Asp1810=) rs765338162 0.00001
NM_000138.5(FBN1):c.5459G>A (p.Arg1820His) rs1340155407 0.00001
NM_000138.5(FBN1):c.5481T>G (p.Thr1827=) rs1261752884 0.00001
NM_000138.5(FBN1):c.5582G>A (p.Ser1861Asn) rs766358553 0.00001
NM_000138.5(FBN1):c.5671+11_5671+13dup rs779987733 0.00001
NM_000138.5(FBN1):c.5788+5G>A rs193922219 0.00001
NM_000138.5(FBN1):c.5817G>A (p.Gly1939=) rs767097888 0.00001
NM_000138.5(FBN1):c.590G>A (p.Gly197Glu) rs895824095 0.00001
NM_000138.5(FBN1):c.598A>G (p.Ser200Gly) rs1057036462 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.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.6187G>A (p.Ala2063Thr) rs1316593215 0.00001
NM_000138.5(FBN1):c.6289G>A (p.Glu2097Lys) rs397515831 0.00001
NM_000138.5(FBN1):c.6354C>T (p.Ile2118=) rs112989722 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.643C>G (p.Arg215Gly) rs111687884 0.00001
NM_000138.5(FBN1):c.6448C>T (p.Arg2150Cys) rs76702162 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.6497-12G>C rs369726558 0.00001
NM_000138.5(FBN1):c.6499A>C (p.Thr2167Pro) rs373510719 0.00001
NM_000138.5(FBN1):c.6560G>A (p.Gly2187Asp) rs2043050989 0.00001
NM_000138.5(FBN1):c.6724C>T (p.Arg2242Cys) rs779749926 0.00001
NM_000138.5(FBN1):c.6768T>C (p.His2256=) rs1047633779 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.6916C>T (p.Arg2306Cys) rs1318405523 0.00001
NM_000138.5(FBN1):c.6917G>A (p.Arg2306His) rs770443276 0.00001
NM_000138.5(FBN1):c.6970G>A (p.Ala2324Thr) rs148831709 0.00001
NM_000138.5(FBN1):c.7082C>T (p.Ser2361Leu) rs397515844 0.00001
NM_000138.5(FBN1):c.7209C>T (p.Ile2403=) rs767903343 0.00001
NM_000138.5(FBN1):c.722C>T (p.Thr241Met) rs747049980 0.00001
NM_000138.5(FBN1):c.7330+10T>G rs375569743 0.00001
NM_000138.5(FBN1):c.7330+5G>A rs1330909386 0.00001
NM_000138.5(FBN1):c.7339G>A (p.Glu2447Lys) rs137854464 0.00001
NM_000138.5(FBN1):c.7360C>A (p.Pro2454Thr) rs1166405014 0.00001
NM_000138.5(FBN1):c.7529A>G (p.Lys2510Arg) rs767602851 0.00001
NM_000138.5(FBN1):c.7571-7C>A rs1229246967 0.00001
NM_000138.5(FBN1):c.7598A>G (p.Asn2533Ser) rs111231879 0.00001
NM_000138.5(FBN1):c.7602G>A (p.Leu2534=) rs1392530685 0.00001
NM_000138.5(FBN1):c.763G>A (p.Gly255Arg) rs781113082 0.00001
NM_000138.5(FBN1):c.7702G>A (p.Val2568Met) rs138558987 0.00001
NM_000138.5(FBN1):c.7749C>T (p.Asn2583=) rs374951628 0.00001
NM_000138.5(FBN1):c.776G>A (p.Gly259Glu) rs751169871 0.00001
NM_000138.5(FBN1):c.7839C>T (p.Ser2613=) rs193922238 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.8049A>G (p.Gln2683=) rs1208510012 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.8223C>T (p.Ile2741=) rs150065311 0.00001
NM_000138.5(FBN1):c.8227-3C>T rs200822151 0.00001
NM_000138.5(FBN1):c.8326C>T (p.Arg2776Ter) rs137854466 0.00001
NM_000138.5(FBN1):c.8449T>G (p.Phe2817Val) rs148741353 0.00001
NM_000138.5(FBN1):c.8461A>C (p.Lys2821Gln) rs794728286 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.921A>C (p.Thr307=) rs1341105449 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.*1562G>T rs78442438
NM_000138.5(FBN1):c.-35C>T rs199781948
NM_000138.5(FBN1):c.-36G>C rs543570298
NM_000138.5(FBN1):c.-3A>C rs1555407435
NM_000138.5(FBN1):c.1147+162dup rs199844620
NM_000138.5(FBN1):c.1148-16T>A rs1334153536
NM_000138.5(FBN1):c.1148-1G>A rs1555400431
NM_000138.5(FBN1):c.1148-2A>C rs397515756
NM_000138.5(FBN1):c.1148-2A>G rs397515756
NM_000138.5(FBN1):c.1158C>G (p.Asn386Lys) rs368737502
NM_000138.5(FBN1):c.1168T>C (p.Ser390Pro) rs779113310
NM_000138.5(FBN1):c.1179_1180dup (p.Val394fs) rs886041751
NM_000138.5(FBN1):c.1208C>T (p.Pro403Leu) rs1555400426
NM_000138.5(FBN1):c.1211C>G (p.Pro404Arg) rs779930519
NM_000138.5(FBN1):c.1211del (p.Pro404fs) rs112289537
NM_000138.5(FBN1):c.1278G>A (p.Pro426=) rs113245313
NM_000138.5(FBN1):c.127A>G (p.Lys43Glu) rs751270801
NM_000138.5(FBN1):c.1281C>G (p.Val427=) rs759949880
NM_000138.5(FBN1):c.1282C>A (p.Pro428Thr) rs1064796730
NM_000138.5(FBN1):c.1283C>G (p.Pro428Arg)
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.1292C>T (p.Pro431Leu) rs2141330893
NM_000138.5(FBN1):c.1297_1300dup (p.Tyr434Ter) rs794728341
NM_000138.5(FBN1):c.1327+14A>T rs1057522710
NM_000138.5(FBN1):c.1331dup (p.Leu445fs)
NM_000138.5(FBN1):c.1361_1371del (p.Gln454fs) rs1064793723
NM_000138.5(FBN1):c.141T>G (p.Gly47=) rs587780941
NM_000138.5(FBN1):c.1420T>C (p.Cys474Arg) rs1555400380
NM_000138.5(FBN1):c.1421G>A (p.Cys474Tyr) rs794728166
NM_000138.5(FBN1):c.1426T>G (p.Cys476Gly) rs794728326
NM_000138.5(FBN1):c.1468+2T>C rs794728167
NM_000138.5(FBN1):c.1468+5G>A rs397515757
NM_000138.5(FBN1):c.1481G>A (p.Cys494Tyr) rs1057518881
NM_000138.5(FBN1):c.1516A>T (p.Asn506Tyr) rs2141327814
NM_000138.5(FBN1):c.1522C>T (p.Gln508Ter) rs1057521859
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.153C>A (p.Asp51Glu) rs1057524406
NM_000138.5(FBN1):c.1545_1546inv (p.Cys515_Arg516delinsTrpGly)
NM_000138.5(FBN1):c.1546C>T (p.Arg516Ter) rs113812345
NM_000138.5(FBN1):c.1552G>A (p.Gly518Arg) rs794728168
NM_000138.5(FBN1):c.1553G>T (p.Gly518Val) rs794728169
NM_000138.5(FBN1):c.155_156delinsTT (p.Ala52Val) rs2140787437
NM_000138.5(FBN1):c.1570dup (p.Thr524fs) rs1555400274
NM_000138.5(FBN1):c.1583G>A (p.Cys528Tyr) rs794728170
NM_000138.5(FBN1):c.1585C>T (p.Arg529Ter) rs137854476
NM_000138.5(FBN1):c.1589A>G (p.Asp530Gly) rs794728171
NM_000138.5(FBN1):c.1606C>T (p.Gln536Ter) rs1479709398
NM_000138.5(FBN1):c.1624_1634del (p.Asn542fs) rs794728296
NM_000138.5(FBN1):c.1625A>G (p.Asn542Ser) rs963564435
NM_000138.5(FBN1):c.1633C>T (p.Arg545Cys) rs730880099
NM_000138.5(FBN1):c.164+1G>A rs794728213
NM_000138.5(FBN1):c.165-8_165-6delinsGG rs2044669818
NM_000138.5(FBN1):c.1664G>T (p.Cys555Phe) rs794728172
NM_000138.5(FBN1):c.1670G>A (p.Cys557Tyr) rs1057521102
NM_000138.5(FBN1):c.1678G>A (p.Gly560Ser) rs1064794283
NM_000138.5(FBN1):c.1679dup (p.Phe561fs) rs794728297
NM_000138.5(FBN1):c.170A>G (p.Asn57Ser) rs2044669666
NM_000138.5(FBN1):c.1715-9T>A rs1057520813
NM_000138.5(FBN1):c.1718T>C (p.Met573Thr) rs2141321700
NM_000138.5(FBN1):c.1726T>G (p.Cys576Gly) rs794728174
NM_000138.5(FBN1):c.1753G>A (p.Gly585Arg) rs1085307528
NM_000138.5(FBN1):c.1766A>G (p.Asn589Ser) rs1555399962
NM_000138.5(FBN1):c.1774G>T (p.Gly592Cys) rs1057521211
NM_000138.5(FBN1):c.1783A>T (p.Lys595Ter) rs1555399958
NM_000138.5(FBN1):c.1799C>T (p.Pro600Leu) rs2141321536
NM_000138.5(FBN1):c.1817C>A (p.Ser606Ter) rs794728176
NM_000138.5(FBN1):c.1837+36G>A rs76951679
NM_000138.5(FBN1):c.1837+5G>A rs1445085747
NM_000138.5(FBN1):c.1846G>A (p.Glu616Lys) rs397515764
NM_000138.5(FBN1):c.1846G>T (p.Glu616Ter) rs397515764
NM_000138.5(FBN1):c.184C>T (p.Arg62Cys) rs25403
NM_000138.5(FBN1):c.1880_1881del (p.Arg627fs) rs1555399827
NM_000138.5(FBN1):c.1883G>A (p.Cys628Tyr) rs1555399825
NM_000138.5(FBN1):c.1883G>C (p.Cys628Ser)
NM_000138.5(FBN1):c.1884C>G (p.Cys628Trp) rs150421653
NM_000138.5(FBN1):c.1889A>T (p.Asn630Ile) rs794728178
NM_000138.5(FBN1):c.188A>G (p.Tyr63Cys) rs1303389437
NM_000138.5(FBN1):c.1890C>A (p.Asn630Lys) rs794728179
NM_000138.5(FBN1):c.1891A>C (p.Thr631Pro) rs2043697314
NM_000138.5(FBN1):c.1908A>G (p.Arg636=) rs886039089
NM_000138.5(FBN1):c.1948C>T (p.Arg650Cys) rs193922185
NM_000138.5(FBN1):c.1957_1958del (p.Cys652_Val653insTer) rs886041350
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.2003_2007dup (p.Cys670fs) rs1555399769
NM_000138.5(FBN1):c.2022G>C (p.Leu674Phe) rs794728182
NM_000138.5(FBN1):c.2023_2026del (p.Phe675fs) rs886041349
NM_000138.5(FBN1):c.2038A>G (p.Lys680Glu)
NM_000138.5(FBN1):c.2048G>A (p.Cys683Tyr) rs2141315817
NM_000138.5(FBN1):c.2050_2054dup (p.Ala686fs) rs1555399762
NM_000138.5(FBN1):c.2055C>A (p.Cys685Ter) rs140603
NM_000138.5(FBN1):c.2058_2063del (p.Ser687_Thr688del) rs794728298
NM_000138.5(FBN1):c.2071G>C (p.Ala691Pro) rs794728183
NM_000138.5(FBN1):c.2084C>A (p.Pro695His) rs1555399754
NM_000138.5(FBN1):c.2092C>T (p.Pro698Ser) rs1085307625
NM_000138.5(FBN1):c.2094del (p.Cys699fs) rs886039360
NM_000138.5(FBN1):c.2113+1G>C rs1566913670
NM_000138.5(FBN1):c.2113+2T>G rs730880105
NM_000138.5(FBN1):c.2114-2A>C rs886041440
NM_000138.5(FBN1):c.212G>C (p.Trp71Ser) rs794728289
NM_000138.5(FBN1):c.2147G>A (p.Gly716Glu) rs794728185
NM_000138.5(FBN1):c.2168-15dup rs762586890
NM_000138.5(FBN1):c.2168-279_2168-277del rs3830220
NM_000138.5(FBN1):c.2179T>C (p.Cys727Arg) rs1064794025
NM_000138.5(FBN1):c.2180dup (p.Cys727fs) rs794728299
NM_000138.5(FBN1):c.2201G>T (p.Cys734Phe) rs794728187
NM_000138.5(FBN1):c.2205A>G (p.Pro735=) rs142709936
NM_000138.5(FBN1):c.2216G>A (p.Cys739Tyr) rs1555399378
NM_000138.5(FBN1):c.2219A>C (p.Glu740Ala) rs2043616665
NM_000138.5(FBN1):c.2227C>T (p.Arg743Cys) rs794728188
NM_000138.5(FBN1):c.2237A>G (p.Tyr746Cys) rs1555399372
NM_000138.5(FBN1):c.2243G>A (p.Cys748Tyr) rs1064794282
NM_000138.5(FBN1):c.2254del (p.Ser752fs) rs1057518554
NM_000138.5(FBN1):c.225del (p.Gly76fs) rs794728324
NM_000138.5(FBN1):c.2262_2263del (p.Tyr754_Glu755delinsTer) rs794728300
NM_000138.5(FBN1):c.2269del (p.Asp757fs) rs1064793636
NM_000138.5(FBN1):c.2293+224dup rs3214936
NM_000138.5(FBN1):c.2293+5G>A rs794728327
NM_000138.5(FBN1):c.2294-14C>T rs201446948
NM_000138.5(FBN1):c.2294-1G>T rs1064793914
NM_000138.5(FBN1):c.2294A>G (p.Asp765Gly) rs2141305168
NM_000138.5(FBN1):c.2296del (p.Ile766fs) rs2141305162
NM_000138.5(FBN1):c.229G>A (p.Gly77Arg) rs794728290
NM_000138.5(FBN1):c.2303A>C (p.Glu768Ala) rs794728189
NM_000138.5(FBN1):c.2341T>C (p.Cys781Arg) rs397515766
NM_000138.5(FBN1):c.2349T>A (p.Asn783Lys) rs1057522903
NM_000138.5(FBN1):c.2357G>A (p.Gly786Glu)
NM_000138.5(FBN1):c.2369G>A (p.Cys790Tyr) rs193922188
NM_000138.5(FBN1):c.2418A>G (p.Glu806=) rs794728191
NM_000138.5(FBN1):c.2433C>A (p.Cys811Ter) rs193921256
NM_000138.5(FBN1):c.2442T>A (p.Ser814Arg) rs1555399208
NM_000138.5(FBN1):c.2446T>C (p.Cys816Arg) rs1555399206
NM_000138.5(FBN1):c.2465A>G (p.Lys822Arg) rs2141304281
NM_000138.5(FBN1):c.247+1G>A rs25404
NM_000138.5(FBN1):c.247+9A>C rs1298547542
NM_000138.5(FBN1):c.248-7T>G rs2140734107
NM_000138.5(FBN1):c.2493A>G (p.Glu831=) rs756410019
NM_000138.5(FBN1):c.2495G>A (p.Cys832Tyr) rs397515775
NM_000138.5(FBN1):c.2503G>C (p.Glu835Gln)
NM_000138.5(FBN1):c.2508T>A (p.Ser836Arg) rs193922190
NM_000138.5(FBN1):c.2508T>C (p.Ser836=) rs193922190
NM_000138.5(FBN1):c.2530A>G (p.Ile844Val)
NM_000138.5(FBN1):c.2539+10T>C rs878853679
NM_000138.5(FBN1):c.2539+1G>A rs794728192
NM_000138.5(FBN1):c.2569_2570del (p.Val857fs) rs794728301
NM_000138.5(FBN1):c.2581C>T (p.Arg861Ter) rs140583
NM_000138.5(FBN1):c.2598_2601dup (p.Gly868fs) rs1555399159
NM_000138.5(FBN1):c.2600A>T (p.Asn867Ile) rs145464311
NM_000138.5(FBN1):c.2601dup (p.Gly868fs) rs794728302
NM_000138.5(FBN1):c.2621A>C (p.Gln874Pro) rs2043595247
NM_000138.5(FBN1):c.2627G>A (p.Cys876Tyr) rs794728193
NM_000138.5(FBN1):c.2639G>A (p.Gly880Asp) rs886038953
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.2668T>A (p.Cys890Ser) rs1555399145
NM_000138.5(FBN1):c.2669G>A (p.Cys890Tyr) rs1555399144
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.2670C>A (p.Cys890Ter) rs2141303490
NM_000138.5(FBN1):c.2671C>T (p.Gln891Ter) rs794728196
NM_000138.5(FBN1):c.2673A>G (p.Gln891=) rs1555399143
NM_000138.5(FBN1):c.2677+5G>C rs1085307946
NM_000138.5(FBN1):c.2677G>T (p.Asp893Tyr) rs193922193
NM_000138.5(FBN1):c.2678-3C>G rs747274959
NM_000138.5(FBN1):c.2701del (p.Ser901fs) rs794728303
NM_000138.5(FBN1):c.2712_2716del (p.Lys904fs) rs794728304
NM_000138.5(FBN1):c.2712del (p.Gly905fs) rs1064793946
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.2728+1G>C rs794728322
NM_000138.5(FBN1):c.2728+3A>G rs2141302328
NM_000138.5(FBN1):c.2729-198T>C rs74662988
NM_000138.5(FBN1):c.2737G>A (p.Glu913Lys) rs1555398996
NM_000138.5(FBN1):c.2743G>A (p.Glu915Lys) rs746834413
NM_000138.5(FBN1):c.2753del (p.Pro918fs)
NM_000138.5(FBN1):c.2762_2763del (p.Val920_Cys921insTer) rs2141300459
NM_000138.5(FBN1):c.2768dup (p.Asn923fs) rs1597567246
NM_000138.5(FBN1):c.2786_2789dup (p.Arg930delinsSerTer) rs794728305
NM_000138.5(FBN1):c.2792G>A (p.Gly931Glu) rs200078617
NM_000138.5(FBN1):c.27C>T (p.Ile9=) rs1057522209
NM_000138.5(FBN1):c.2806C>T (p.Gln936Ter) rs794728197
NM_000138.5(FBN1):c.2810G>A (p.Cys937Tyr) rs113602180
NM_000138.5(FBN1):c.2814del (p.Ser939fs) rs1131691766
NM_000138.5(FBN1):c.2816del (p.Ser939fs) rs1555398976
NM_000138.5(FBN1):c.2854+1G>T rs112809590
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.2891A>T (p.Asp964Val) rs2141297501
NM_000138.5(FBN1):c.2893G>A (p.Glu965Lys) rs748905831
NM_000138.5(FBN1):c.2902_2920del (p.Thr968fs) rs1064793770
NM_000138.5(FBN1):c.2909C>A (p.Pro970His) rs751985082
NM_000138.5(FBN1):c.2931G>C (p.Met977Ile) rs759544189
NM_000138.5(FBN1):c.2934dup (p.Ala979fs) rs1555398821
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.2953G>A (p.Gly985Arg) rs794728199
NM_000138.5(FBN1):c.2963G>A (p.Trp988Ter) rs2043543553
NM_000138.5(FBN1):c.2964G>A (p.Trp988Ter)
NM_000138.5(FBN1):c.2982G>A (p.Glu994=) rs758745637
NM_000138.5(FBN1):c.2T>G (p.Met1Arg) rs886041536
NM_000138.5(FBN1):c.3012C>G (p.Tyr1004Ter) rs397515784
NM_000138.5(FBN1):c.3020T>G (p.Leu1007Arg) rs794728200
NM_000138.5(FBN1):c.3024T>C (p.Cys1008=) rs1057523654
NM_000138.5(FBN1):c.3037G>A (p.Gly1013Arg) rs140593
NM_000138.5(FBN1):c.305G>T (p.Cys102Phe) rs794728292
NM_000138.5(FBN1):c.306C>A (p.Cys102Ter) rs25388
NM_000138.5(FBN1):c.3078C>T (p.Phe1026=) rs553411757
NM_000138.5(FBN1):c.3082G>A (p.Asp1028Asn) rs1555398769
NM_000138.5(FBN1):c.3083A>G (p.Asp1028Gly) rs1131691317
NM_000138.5(FBN1):c.3091G>A (p.Glu1031Lys) rs1555398685
NM_000138.5(FBN1):c.3094T>C (p.Cys1032Arg) rs1555398684
NM_000138.5(FBN1):c.3102G>A (p.Met1034Ile)
NM_000138.5(FBN1):c.3123C>T (p.His1041=) rs576395584
NM_000138.5(FBN1):c.3131G>T (p.Cys1044Phe) rs730880100
NM_000138.5(FBN1):c.3145G>T (p.Gly1049Cys) rs778181932
NM_000138.5(FBN1):c.3162G>A (p.Arg1054=) rs746021219
NM_000138.5(FBN1):c.3164G>A (p.Cys1055Tyr) rs397515786
NM_000138.5(FBN1):c.3173G>T (p.Gly1058Val) rs794728202
NM_000138.5(FBN1):c.3208+55_3208+60del rs143836403
NM_000138.5(FBN1):c.3217G>A (p.Glu1073Lys) rs137854478
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.3238del (p.Leu1080fs) rs886039549
NM_000138.5(FBN1):c.3253C>T (p.Gln1085Ter) rs1555398640
NM_000138.5(FBN1):c.3258del (p.Cys1086fs) rs1085307786
NM_000138.5(FBN1):c.3265del (p.Thr1089fs) rs1064793510
NM_000138.5(FBN1):c.3283T>A (p.Cys1095Ser) rs1064793113
NM_000138.5(FBN1):c.3289T>C (p.Cys1097Arg) rs1131691578
NM_000138.5(FBN1):c.3297A>T (p.Glu1099Asp) rs1555398626
NM_000138.5(FBN1):c.3299G>C (p.Gly1100Ala) rs112547596
NM_000138.5(FBN1):c.32T>A (p.Leu11Gln) rs1555407429
NM_000138.5(FBN1):c.3302A>G (p.Tyr1101Cys) rs1555398625
NM_000138.5(FBN1):c.3338A>G (p.Asp1113Gly) rs140597
NM_000138.5(FBN1):c.3344A>G (p.Asp1115Gly) rs794728203
NM_000138.5(FBN1):c.3373C>T (p.Arg1125Ter) rs727505006
NM_000138.5(FBN1):c.3380G>T (p.Gly1127Val) rs1064794882
NM_000138.5(FBN1):c.3401dup (p.Ser1135fs) rs794728342
NM_000138.5(FBN1):c.3412T>C (p.Cys1138Arg) rs1131691806
NM_000138.5(FBN1):c.341G>C (p.Arg114Thr)
NM_000138.5(FBN1):c.3424_3427dup (p.Gly1143fs) rs794728306
NM_000138.5(FBN1):c.3425C>G (p.Pro1142Arg) rs2043517357
NM_000138.5(FBN1):c.3443C>G (p.Pro1148Arg) rs2141293556
NM_000138.5(FBN1):c.3450_3458delinsGTCCGCGTT (p.Ile1150_Cys1153delinsMetSerAlaPhe) rs1064796522
NM_000138.5(FBN1):c.3463+15T>A rs1597563076
NM_000138.5(FBN1):c.3464-5_3464-4delinsAG rs2141293349
NM_000138.5(FBN1):c.347-19CTT[2] rs756583965
NM_000138.5(FBN1):c.347-5del rs561135562
NM_000138.5(FBN1):c.3475T>A (p.Cys1159Ser) rs794728205
NM_000138.5(FBN1):c.3496T>C (p.Cys1166Arg) rs1064794796
NM_000138.5(FBN1):c.3506G>T (p.Gly1169Val) rs794728330
NM_000138.5(FBN1):c.3513C>A (p.Cys1171Ter) rs775417975
NM_000138.5(FBN1):c.3524_3525del (p.Ile1175fs) rs2141293230
NM_000138.5(FBN1):c.3545G>C (p.Cys1182Ser)
NM_000138.5(FBN1):c.3573T>C (p.Asp1191=) rs150912619
NM_000138.5(FBN1):c.3583dup (p.Cys1195fs)
NM_000138.5(FBN1):c.3589+11TTTTA[5] rs72158035
NM_000138.5(FBN1):c.3589+134C>T rs12907671
NM_000138.5(FBN1):c.3589+50_3589+51insTTTAC rs757366027
NM_000138.5(FBN1):c.3589+52GTTAT[3] rs72132658
NM_000138.5(FBN1):c.3589+69TATTT[3] rs1170123917
NM_000138.5(FBN1):c.3596A>G (p.Asp1199Gly) rs794728206
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.3614A>G (p.Asn1205Ser) rs794728207
NM_000138.5(FBN1):c.3635G>C (p.Cys1212Ser) rs1057522908
NM_000138.5(FBN1):c.364C>T (p.Arg122Cys) rs137854467
NM_000138.5(FBN1):c.3668G>T (p.Cys1223Phe) rs137854469
NM_000138.5(FBN1):c.3691C>T (p.Pro1231Ser)
NM_000138.5(FBN1):c.3712+1G>A rs794728209
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.3713-2A>T rs1131691604
NM_000138.5(FBN1):c.3713A>G (p.Asp1238Gly)
NM_000138.5(FBN1):c.3757C>T (p.Gln1253Ter) rs1131691311
NM_000138.5(FBN1):c.3761G>A (p.Cys1254Tyr) rs1131691805
NM_000138.5(FBN1):c.3773del (p.Pro1258fs) rs794728343
NM_000138.5(FBN1):c.3786G>T (p.Arg1262Ser) rs1555398280
NM_000138.5(FBN1):c.3789C>G (p.Cys1263Trp) rs1057518444
NM_000138.5(FBN1):c.3795T>A (p.Cys1265Ter) rs1555398278
NM_000138.5(FBN1):c.379G>C (p.Gly127Arg) rs1057524165
NM_000138.5(FBN1):c.3806T>C (p.Phe1269Ser)
NM_000138.5(FBN1):c.3834T>G (p.Cys1278Trp) rs886039492
NM_000138.5(FBN1):c.3838G>A (p.Asp1280Asn) rs794728210
NM_000138.5(FBN1):c.3839-1G>T rs794728211
NM_000138.5(FBN1):c.3839-311T>C rs11634866
NM_000138.5(FBN1):c.3839-5_3842del rs1555398178
NM_000138.5(FBN1):c.3851G>A (p.Cys1284Tyr) rs1555398173
NM_000138.5(FBN1):c.3866A>G (p.Asn1289Ser) rs2141287477
NM_000138.5(FBN1):c.386del (p.Cys129fs) rs1555405046
NM_000138.5(FBN1):c.3886T>C (p.Cys1296Arg) rs397515797
NM_000138.5(FBN1):c.3902G>T (p.Gly1301Val) rs1566908083
NM_000138.5(FBN1):c.3903C>T (p.Gly1301=) rs1018707026
NM_000138.5(FBN1):c.3964+1G>A rs794728212
NM_000138.5(FBN1):c.3964G>A (p.Asp1322Asn)
NM_000138.5(FBN1):c.3965-3C>G
NM_000138.5(FBN1):c.3974A>C (p.Glu1325Ala) rs794728331
NM_000138.5(FBN1):c.3977G>A (p.Cys1326Tyr) rs1555397738
NM_000138.5(FBN1):c.3G>A (p.Met1Ile) rs886039072
NM_000138.5(FBN1):c.401G>A (p.Cys134Tyr) rs1555405043
NM_000138.5(FBN1):c.4027G>A (p.Ala1343Thr) rs2043404775
NM_000138.5(FBN1):c.4036_4037insACATTTGAAGCTTCCTGCTGTATTGGTACATACAGCAGGAAGCT (p.Phe1346delinsTyrIleTer) rs1597554086
NM_000138.5(FBN1):c.4043G>A (p.Cys1348Tyr) rs1555397720
NM_000138.5(FBN1):c.4050C>A (p.Cys1350Ter) rs201058219
NM_000138.5(FBN1):c.4061G>A (p.Trp1354Ter) rs1060501039
NM_000138.5(FBN1):c.4062G>A (p.Trp1354Ter) rs794728215
NM_000138.5(FBN1):c.4087G>A (p.Asp1363Asn)
NM_000138.5(FBN1):c.4088-17T>C rs1397067049
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.4138T>C (p.Cys1380Arg) rs1131691588
NM_000138.5(FBN1):c.4146T>A (p.Asn1382Lys) rs794728218
NM_000138.5(FBN1):c.4159T>G (p.Tyr1387Asp) rs1555397656
NM_000138.5(FBN1):c.4160dup (p.Tyr1387Ter)
NM_000138.5(FBN1):c.4189G>A (p.Gly1397Ser)
NM_000138.5(FBN1):c.4210+202C>G rs56686382
NM_000138.5(FBN1):c.4210G>A (p.Asp1404Asn) rs794728220
NM_000138.5(FBN1):c.4337-2A>G rs794728216
NM_000138.5(FBN1):c.4337-315G>A rs12907167
NM_000138.5(FBN1):c.4337-55dup rs138034853
NM_000138.5(FBN1):c.4343A>G (p.Asp1448Gly) rs794728222
NM_000138.5(FBN1):c.4347G>T (p.Glu1449Asp) rs1555397423
NM_000138.5(FBN1):c.4364T>G (p.Ile1455Ser) rs397515807
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.4388A>G (p.Asn1463Ser) rs1555397413
NM_000138.5(FBN1):c.4405del (p.Arg1469fs) rs794728308
NM_000138.5(FBN1):c.4407_4409dup (p.Cys1470dup) rs1555397404
NM_000138.5(FBN1):c.4425del (p.Tyr1476fs) rs794728309
NM_000138.5(FBN1):c.4429G>T (p.Glu1477Ter) rs869025407
NM_000138.5(FBN1):c.4429dup (p.Glu1477fs) rs794728310
NM_000138.5(FBN1):c.4437C>G (p.Asp1479Glu) rs370161725
NM_000138.5(FBN1):c.4447G>A (p.Gly1483Arg) rs794728223
NM_000138.5(FBN1):c.4460-9C>A rs372753740
NM_000138.5(FBN1):c.4460A>C (p.Asp1487Ala) 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.4489T>C (p.Cys1497Arg) rs1555397213
NM_000138.5(FBN1):c.4516C>T (p.Pro1506Ser) rs794728224
NM_000138.5(FBN1):c.4520G>A (p.Gly1507Asp) rs794728225
NM_000138.5(FBN1):c.4531_4534del (p.Cys1511fs) rs1555397206
NM_000138.5(FBN1):c.4532G>A (p.Cys1511Tyr) rs1060501074
NM_000138.5(FBN1):c.4539C>G (p.Cys1513Trp) rs1555397203
NM_000138.5(FBN1):c.455G>A (p.Ser152Asn) rs1288527435
NM_000138.5(FBN1):c.4561C>A (p.Pro1521Thr) rs794728226
NM_000138.5(FBN1):c.4567C>T (p.Arg1523Ter) rs397515812
NM_000138.5(FBN1):c.4575del (p.Cys1526fs) rs1555397198
NM_000138.5(FBN1):c.4582+4del rs2141272841
NM_000138.5(FBN1):c.4582+64A>G rs2279235
NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys) rs111401431
NM_000138.5(FBN1):c.4615C>T (p.Arg1539Ter) rs111231312
NM_000138.5(FBN1):c.461G>C (p.Cys154Ser) rs1057521103
NM_000138.5(FBN1):c.4621C>T (p.Arg1541Ter) rs794728228
NM_000138.5(FBN1):c.4648A>T (p.Ser1550Cys) rs794728229
NM_000138.5(FBN1):c.466A>G (p.Asn156Asp) rs746352371
NM_000138.5(FBN1):c.466_469del (p.Asn156fs) rs1085307490
NM_000138.5(FBN1):c.4688G>C (p.Cys1563Ser) rs1131691871
NM_000138.5(FBN1):c.4704A>T (p.Lys1568Asn) rs193922208
NM_000138.5(FBN1):c.472G>A (p.Gly158Arg) rs1555404812
NM_000138.5(FBN1):c.4745C>T (p.Thr1582Ile)
NM_000138.5(FBN1):c.4747+141del rs3214935
NM_000138.5(FBN1):c.4747+3A>C rs1555397145
NM_000138.5(FBN1):c.4748-130G>C rs75456997
NM_000138.5(FBN1):c.4748-77T>G rs55694948
NM_000138.5(FBN1):c.4759del (p.Ile1587fs) rs1057518188
NM_000138.5(FBN1):c.4786C>T (p.Arg1596Ter) rs113871094
NM_000138.5(FBN1):c.4816+2T>C rs1597547226
NM_000138.5(FBN1):c.4816+3A>G
NM_000138.5(FBN1):c.4817-1G>A rs2141269787
NM_000138.5(FBN1):c.4831C>T (p.Gln1611Ter) rs1555397004
NM_000138.5(FBN1):c.4840C>T (p.Pro1614Ser)
NM_000138.5(FBN1):c.484G>T (p.Ala162Ser) rs193922210
NM_000138.5(FBN1):c.4888C>T (p.Gln1630Ter) rs794728231
NM_000138.5(FBN1):c.4904C>A (p.Thr1635Asn) rs1460284193
NM_000138.5(FBN1):c.4930C>T (p.Arg1644Ter) rs140630
NM_000138.5(FBN1):c.4936T>G (p.Cys1646Gly) rs1064793115
NM_000138.5(FBN1):c.4937G>A (p.Cys1646Tyr) rs397515814
NM_000138.5(FBN1):c.493C>T (p.Arg165Ter) rs113905529
NM_000138.5(FBN1):c.4942+101A>T rs56101864
NM_000138.5(FBN1):c.4942+3A>G rs2043313628
NM_000138.5(FBN1):c.4942+4A>G rs397515815
NM_000138.5(FBN1):c.494G>C (p.Arg165Pro) rs1060501079
NM_000138.5(FBN1):c.4998C>T (p.Thr1666=) rs141925790
NM_000138.5(FBN1):c.5014T>G (p.Cys1672Gly) rs112930491
NM_000138.5(FBN1):c.5015G>A (p.Cys1672Tyr) rs140627
NM_000138.5(FBN1):c.5021G>T (p.Cys1674Phe) rs794728233
NM_000138.5(FBN1):c.503G>T (p.Cys168Phe) rs1555404803
NM_000138.5(FBN1):c.5053AAT[1] (p.Asn1686del) rs2141267592
NM_000138.5(FBN1):c.5059T>C (p.Cys1687Arg) rs2141267582
NM_000138.5(FBN1):c.5060G>T (p.Cys1687Phe)
NM_000138.5(FBN1):c.5065+1G>T rs1296209846
NM_000138.5(FBN1):c.5066-12C>T rs531105331
NM_000138.5(FBN1):c.5066-13A>T rs1167489368
NM_000138.5(FBN1):c.5066-14dup rs3833018
NM_000138.5(FBN1):c.5066-2A>G
NM_000138.5(FBN1):c.5073AAG[1] (p.Arg1692del) rs1555396789
NM_000138.5(FBN1):c.5095T>G (p.Tyr1699Asp)
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.510C>G (p.Tyr170Ter) rs111671429
NM_000138.5(FBN1):c.5120A>G (p.Asp1707Gly)
NM_000138.5(FBN1):c.5147AGA[1] (p.Lys1717del) rs2043292746
NM_000138.5(FBN1):c.5177G>A (p.Gly1726Asp) rs1064797059
NM_000138.5(FBN1):c.5183C>T (p.Ala1728Val) rs1131691804
NM_000138.5(FBN1):c.5185T>C (p.Trp1729Arg) rs1555396762
NM_000138.5(FBN1):c.5197T>G (p.Cys1733Gly) rs794728235
NM_000138.5(FBN1):c.5208T>A (p.Cys1736Ter) rs794728234
NM_000138.5(FBN1):c.5218A>G (p.Ser1740Gly) rs2141266497
NM_000138.5(FBN1):c.5219_5224+1dup rs1555396754
NM_000138.5(FBN1):c.5225-3C>A rs876657810
NM_000138.5(FBN1):c.5236A>C (p.Thr1746Pro)
NM_000138.5(FBN1):c.523C>T (p.Pro175Ser) rs891185586
NM_000138.5(FBN1):c.5270T>A (p.Ile1757Asn) rs2141264003
NM_000138.5(FBN1):c.5284G>A (p.Gly1762Ser) rs387906623
NM_000138.5(FBN1):c.5285G>T (p.Gly1762Val) rs1057524697
NM_000138.5(FBN1):c.5294T>G (p.Val1765Gly) rs2141263957
NM_000138.5(FBN1):c.5297-109AC[15] rs3074895
NM_000138.5(FBN1):c.5297-109AC[16] rs3074895
NM_000138.5(FBN1):c.5297-109AC[17] rs3074895
NM_000138.5(FBN1):c.5297-109AC[19] rs3074895
NM_000138.5(FBN1):c.5297-109AC[20] rs3074895
NM_000138.5(FBN1):c.5297-109AC[22] rs3074895
NM_000138.5(FBN1):c.5301T>C (p.Ile1767=) rs886038796
NM_000138.5(FBN1):c.5328C>T (p.Val1776=) rs1555396430
NM_000138.5(FBN1):c.5345G>A (p.Cys1782Tyr) rs1555396429
NM_000138.5(FBN1):c.5358T>C (p.Val1786=) rs1057521207
NM_000138.5(FBN1):c.5360G>A (p.Gly1787Asp) rs2141260386
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.5385G>C (p.Val1795=) rs1555396422
NM_000138.5(FBN1):c.539-1G>A rs794728161
NM_000138.5(FBN1):c.539-1G>T rs794728161
NM_000138.5(FBN1):c.5404A>C (p.Lys1802Gln) rs2141260313
NM_000138.5(FBN1):c.5422+157dup rs201118654
NM_000138.5(FBN1):c.5422+1G>A rs1064793116
NM_000138.5(FBN1):c.5423-18G>A rs1057521048
NM_000138.5(FBN1):c.5423-30_5423-28del rs56354352
NM_000138.5(FBN1):c.5431G>A (p.Glu1811Lys) rs761857514
NM_000138.5(FBN1):c.5434T>G (p.Cys1812Gly) rs1597537935
NM_000138.5(FBN1):c.5440A>G (p.Asn1814Asp) rs1257299340
NM_000138.5(FBN1):c.5470T>C (p.Cys1824Arg) rs1131691478
NM_000138.5(FBN1):c.5504G>A (p.Cys1835Tyr) rs111929350
NM_000138.5(FBN1):c.5513G>A (p.Gly1838Asp) rs78970689
NM_000138.5(FBN1):c.5513G>C (p.Gly1838Ala) rs78970689
NM_000138.5(FBN1):c.5545+14del rs748182794
NM_000138.5(FBN1):c.5557T>C (p.Cys1853Arg) rs1555395990
NM_000138.5(FBN1):c.5595C>A (p.Cys1865Ter) rs1057520601
NM_000138.5(FBN1):c.5615T>C (p.Phe1872Ser)
NM_000138.5(FBN1):c.565G>T (p.Val189Leu) rs2044026712
NM_000138.5(FBN1):c.5665T>C (p.Cys1889Arg)
NM_000138.5(FBN1):c.5671+28dup rs55649234
NM_000138.5(FBN1):c.5672-1G>C rs1555395849
NM_000138.5(FBN1):c.5672-4C>G
NM_000138.5(FBN1):c.5680G>A (p.Glu1894Lys) rs1057521101
NM_000138.5(FBN1):c.5686del (p.Glu1896fs) rs1064793374
NM_000138.5(FBN1):c.568A>C (p.Ile190Leu) rs147107676
NM_000138.5(FBN1):c.5699G>A (p.Cys1900Tyr) rs794728237
NM_000138.5(FBN1):c.5700T>A (p.Cys1900Ter) rs794728236
NM_000138.5(FBN1):c.5723C>T (p.Thr1908Ile) rs1304811982
NM_000138.5(FBN1):c.5726T>C (p.Ile1909Thr) rs794728333
NM_000138.5(FBN1):c.5734T>C (p.Phe1912Leu) rs2141250347
NM_000138.5(FBN1):c.5735del (p.Phe1912fs) rs1064793633
NM_000138.5(FBN1):c.5746T>C (p.Cys1916Arg) rs794728238
NM_000138.5(FBN1):c.5756G>C (p.Gly1919Ala) rs2141250311
NM_000138.5(FBN1):c.5767T>C (p.Ser1923Pro) rs794728239
NM_000138.5(FBN1):c.5788+14A>G rs760353609
NM_000138.5(FBN1):c.5788+15T>C rs543458649
NM_000138.5(FBN1):c.5788+1G>T rs1555395819
NM_000138.5(FBN1):c.5788+4C>A rs577301285
NM_000138.5(FBN1):c.5788+4C>T rs577301285
NM_000138.5(FBN1):c.5789-8_5793del rs1064793643
NM_000138.5(FBN1):c.5789A>G (p.Asp1930Gly)
NM_000138.5(FBN1):c.5801G>A (p.Cys1934Tyr) rs794728240
NM_000138.5(FBN1):c.5817del (p.Asn1940fs) rs794728311
NM_000138.5(FBN1):c.5825G>T (p.Cys1942Phe) rs794728241
NM_000138.5(FBN1):c.5839T>C (p.Cys1947Arg) rs1131691938
NM_000138.5(FBN1):c.5863C>T (p.Gln1955Ter) rs363807
NM_000138.5(FBN1):c.5873G>A (p.Cys1958Tyr) rs2141249167
NM_000138.5(FBN1):c.5893del (p.Ala1965fs) rs794728312
NM_000138.5(FBN1):c.5894C>G (p.Ala1965Gly)
NM_000138.5(FBN1):c.5917+193AT[4] rs529269961
NM_000138.5(FBN1):c.5917+1G>A rs363808
NM_000138.5(FBN1):c.5917+221AT[4] rs549747216
NM_000138.5(FBN1):c.5917+221AT[6] rs549747216
NM_000138.5(FBN1):c.5917+221_5917+232del rs199516630
NM_000138.5(FBN1):c.5917+241AT[5] rs931622804
NM_000138.5(FBN1):c.5918-270_5918-269insTT rs10656611
NM_000138.5(FBN1):c.5918A>G (p.Asp1973Gly) rs794728242
NM_000138.5(FBN1):c.5942C>A (p.Pro1981His) rs1555395662
NM_000138.5(FBN1):c.5957dup (p.Gly1987fs) rs794728313
NM_000138.5(FBN1):c.5971A>C (p.Asn1991His) rs794728243
NM_000138.5(FBN1):c.5971A>T (p.Asn1991Tyr) rs794728243
NM_000138.5(FBN1):c.5993G>A (p.Cys1998Tyr) rs1085307531
NM_000138.5(FBN1):c.5999G>T (p.Cys2000Phe) rs1555395645
NM_000138.5(FBN1):c.6005del (p.Pro2002fs) rs1064793989
NM_000138.5(FBN1):c.6032G>A (p.Cys2011Tyr) rs886038967
NM_000138.5(FBN1):c.6037+1G>A rs1064796636
NM_000138.5(FBN1):c.6037+2_6037+24del rs1555395636
NM_000138.5(FBN1):c.6046G>A (p.Glu2016Lys) rs2141245531
NM_000138.5(FBN1):c.6048G>T (p.Glu2016Asp)
NM_000138.5(FBN1):c.6069T>A (p.Ile2023=) rs778537464
NM_000138.5(FBN1):c.6086G>A (p.Cys2029Tyr) rs1057517855
NM_000138.5(FBN1):c.6094A>G (p.Thr2032Ala)
NM_000138.5(FBN1):c.6112T>G (p.Cys2038Gly) rs1064796731
NM_000138.5(FBN1):c.6119_6120del (p.Cys2040fs) rs1057517851
NM_000138.5(FBN1):c.6120T>C (p.Cys2040=) rs193922221
NM_000138.5(FBN1):c.6129del (p.Ser2045fs) rs794728314
NM_000138.5(FBN1):c.6140C>T (p.Ser2047Phe) rs1060501046
NM_000138.5(FBN1):c.6164-2A>G rs794728244
NM_000138.5(FBN1):c.6164-2A>T rs794728244
NM_000138.5(FBN1):c.6169C>T (p.Arg2057Ter) rs763091520
NM_000138.5(FBN1):c.6186T>G (p.Tyr2062Ter) rs764144407
NM_000138.5(FBN1):c.6206del (p.Lys2069fs) rs1057518034
NM_000138.5(FBN1):c.6208T>C (p.Cys2070Arg)
NM_000138.5(FBN1):c.6211TCA[1] (p.Ser2072del) rs794728316
NM_000138.5(FBN1):c.6242A>G (p.Gln2081Arg)
NM_000138.5(FBN1):c.6244G>T (p.Glu2082Ter) rs1052480459
NM_000138.5(FBN1):c.6251G>T (p.Cys2084Phe) rs794728245
NM_000138.5(FBN1):c.6274T>C (p.Trp2092Arg) rs794728246
NM_000138.5(FBN1):c.6277G>A (p.Gly2093Arg) rs1064793117
NM_000138.5(FBN1):c.6296G>T (p.Cys2099Phe) rs1131691803
NM_000138.5(FBN1):c.6297C>G (p.Cys2099Trp)
NM_000138.5(FBN1):c.6299C>T (p.Pro2100Leu) rs1057524215
NM_000138.5(FBN1):c.629G>A (p.Cys210Tyr) rs1085307468
NM_000138.5(FBN1):c.6313+2T>C rs1555395257
NM_000138.5(FBN1):c.6313+3A>G rs1555395256
NM_000138.5(FBN1):c.6313+5G>A rs878853688
NM_000138.5(FBN1):c.6313G>C (p.Glu2105Gln) rs794728247
NM_000138.5(FBN1):c.6314-2A>G
NM_000138.5(FBN1):c.6314A>T (p.Glu2105Val) rs1165109120
NM_000138.5(FBN1):c.6322C>T (p.Arg2108Cys) rs1246984265
NM_000138.5(FBN1):c.6325C>T (p.Gln2109Ter) rs1555395229
NM_000138.5(FBN1):c.6332G>A (p.Cys2111Tyr) rs1131691467
NM_000138.5(FBN1):c.6346_6347delinsTT (p.Gly2116Leu) rs1555395227
NM_000138.5(FBN1):c.6349A>G (p.Ile2117Val) rs572754741
NM_000138.5(FBN1):c.6355G>A (p.Val2119Met) rs876660976
NM_000138.5(FBN1):c.635_636del (p.Thr212fs) rs1566922422
NM_000138.5(FBN1):c.6368A>T (p.Asp2123Val)
NM_000138.5(FBN1):c.6379+2T>C rs113453570
NM_000138.5(FBN1):c.6379+5G>C rs1085307875
NM_000138.5(FBN1):c.6379+5G>T
NM_000138.5(FBN1):c.6380-2A>C rs886041482
NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys) rs794728334
NM_000138.5(FBN1):c.6398A>G (p.Glu2133Gly) rs2141240476
NM_000138.5(FBN1):c.6406_6407dup (p.Cys2137fs) rs794728317
NM_000138.5(FBN1):c.6418G>A (p.Gly2140Arg) rs794728249
NM_000138.5(FBN1):c.6419G>A (p.Gly2140Glu) rs1064793118
NM_000138.5(FBN1):c.641G>A (p.Gly214Asp)
NM_000138.5(FBN1):c.6425G>A (p.Cys2142Tyr) rs794728335
NM_000138.5(FBN1):c.6431A>G (p.Asn2144Ser) rs137854461
NM_000138.5(FBN1):c.643C>T (p.Arg215Ter) rs111687884
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.6450_6454del (p.Cys2151fs) rs1555395193
NM_000138.5(FBN1):c.6453C>G (p.Cys2151Trp) rs794728251
NM_000138.5(FBN1):c.6453C>T (p.Cys2151=) rs794728251
NM_000138.5(FBN1):c.6473T>C (p.Ile2158Thr) rs751560904
NM_000138.5(FBN1):c.6487G>T (p.Glu2163Ter) rs1555395191
NM_000138.5(FBN1):c.6496G>A (p.Asp2166Asn) rs794728252
NM_000138.5(FBN1):c.6496G>C (p.Asp2166His) rs794728252
NM_000138.5(FBN1):c.6496G>T (p.Asp2166Tyr) rs794728252
NM_000138.5(FBN1):c.6503A>G (p.Asp2168Gly) rs1555395015
NM_000138.5(FBN1):c.6524C>T (p.Pro2175Leu) rs2141237135
NM_000138.5(FBN1):c.6541T>C (p.Cys2181Arg) rs1131691373
NM_000138.5(FBN1):c.6551_6552dup (p.Ile2185Ter) rs1555395009
NM_000138.5(FBN1):c.6596del (p.Gly2199fs) rs1555395004
NM_000138.5(FBN1):c.6616+1G>A rs1064793980
NM_000138.5(FBN1):c.6616+241A>G rs2288303
NM_000138.5(FBN1):c.6625G>T (p.Glu2209Ter) rs886041859
NM_000138.5(FBN1):c.6626A>T (p.Glu2209Val) rs1060501072
NM_000138.5(FBN1):c.6628T>C (p.Cys2210Arg) rs794728253
NM_000138.5(FBN1):c.6629G>A (p.Cys2210Tyr) rs2141235242
NM_000138.5(FBN1):c.6630T>A (p.Cys2210Ter) rs397515836
NM_000138.5(FBN1):c.6650G>A (p.Cys2217Tyr) rs794728254
NM_000138.5(FBN1):c.6656T>G (p.Phe2219Cys) rs397515837
NM_000138.5(FBN1):c.6658C>T (p.Arg2220Ter) rs113001196
NM_000138.5(FBN1):c.6661T>C (p.Cys2221Arg) rs113543334
NM_000138.5(FBN1):c.6681A>T (p.Ser2227=) rs363824
NM_000138.5(FBN1):c.6691A>C (p.Lys2231Gln) rs1207479679
NM_000138.5(FBN1):c.6697C>T (p.Pro2233Ser) rs794728255
NM_000138.5(FBN1):c.6707A>G (p.Tyr2236Cys) rs368439899
NM_000138.5(FBN1):c.6707A>T (p.Tyr2236Phe) rs368439899
NM_000138.5(FBN1):c.6722_6725dup (p.Arg2243fs) rs794728318
NM_000138.5(FBN1):c.6739+5G>A rs2141234929
NM_000138.5(FBN1):c.6740-10T>G rs1456822662
NM_000138.5(FBN1):c.6740-1G>A rs1555394781
NM_000138.5(FBN1):c.6752G>A (p.Cys2251Tyr) rs794728256
NM_000138.5(FBN1):c.6772T>C (p.Cys2258Arg) rs1057520617
NM_000138.5(FBN1):c.6784C>T (p.Gln2262Ter) rs1060501023
NM_000138.5(FBN1):c.6791A>G (p.Glu2264Gly) rs2141232588
NM_000138.5(FBN1):c.6793T>C (p.Cys2265Arg)
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.6806T>A (p.Ile2269Asn) rs193922228
NM_000138.5(FBN1):c.6815A>G (p.Tyr2272Cys) rs2141232534
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.6859G>A (p.Glu2287Lys) rs551736585
NM_000138.5(FBN1):c.6871G>A (p.Asp2291Asn) rs794728257
NM_000138.5(FBN1):c.6872-14A>G rs1064793119
NM_000138.5(FBN1):c.6872-2A>G rs1064794139
NM_000138.5(FBN1):c.6872-4A>G rs1207038649
NM_000138.5(FBN1):c.6872-93G>A rs559172589
NM_000138.5(FBN1):c.6872-9A>G rs794728259
NM_000138.5(FBN1):c.6904T>A (p.Cys2302Ser) rs886039092
NM_000138.5(FBN1):c.6923T>C (p.Leu2308Pro) rs794728260
NM_000138.5(FBN1):c.6926A>G (p.Asn2309Ser) rs2141229964
NM_000138.5(FBN1):c.6941A>G (p.Tyr2314Cys) rs1057518316
NM_000138.5(FBN1):c.6951G>A (p.Glu2317=) rs1555394627
NM_000138.5(FBN1):c.6953G>A (p.Cys2318Tyr) rs1555394626
NM_000138.5(FBN1):c.6959A>T (p.Asp2320Val) rs794728261
NM_000138.5(FBN1):c.697C>A (p.Arg233Ser) rs397515841
NM_000138.5(FBN1):c.6982C>T (p.Gln2328Ter) rs371097218
NM_000138.5(FBN1):c.6997+18C>T rs148116316
NM_000138.5(FBN1):c.6997+19G>T rs767445722
NM_000138.5(FBN1):c.6997+2T>C rs1131691730
NM_000138.5(FBN1):c.6997+40C>T rs2141229721
NM_000138.5(FBN1):c.6997+4A>C rs727503055
NM_000138.5(FBN1):c.6998-12T>A rs2141229182
NM_000138.5(FBN1):c.7004G>A (p.Arg2335Gln) rs761248433
NM_000138.5(FBN1):c.700_702delinsTGT (p.Gly234Cys) rs794728293
NM_000138.5(FBN1):c.7021A>G (p.Thr2341Ala) rs1566893526
NM_000138.5(FBN1):c.7026G>A (p.Glu2342=) rs1555394578
NM_000138.5(FBN1):c.7037dup (p.Asn2346fs) rs1131691656
NM_000138.5(FBN1):c.7039_7040del (p.Met2347fs) rs794728319
NM_000138.5(FBN1):c.7048A>G (p.Ile2350Val) rs794728263
NM_000138.5(FBN1):c.7082C>G (p.Ser2361Trp) rs397515844
NM_000138.5(FBN1):c.7111T>C (p.Trp2371Arg) rs794728264
NM_000138.5(FBN1):c.7115G>T (p.Gly2372Val) rs112369155
NM_000138.5(FBN1):c.7125T>A (p.Cys2375Ter) rs794728265
NM_000138.5(FBN1):c.7132T>C (p.Cys2378Arg) rs794728267
NM_000138.5(FBN1):c.7167_7168del (p.Cys2390fs) rs397515846
NM_000138.5(FBN1):c.7180C>T (p.Arg2394Ter) rs397515848
NM_000138.5(FBN1):c.718C>T (p.Arg240Cys) rs137854480
NM_000138.5(FBN1):c.7198G>A (p.Gly2400Arg) rs2141228805
NM_000138.5(FBN1):c.719G>A (p.Arg240His) rs768744583
NM_000138.5(FBN1):c.7204+3A>G rs1057518076
NM_000138.5(FBN1):c.7204G>C (p.Asp2402His) rs1057524757
NM_000138.5(FBN1):c.7205-18A>G rs1555394451
NM_000138.5(FBN1):c.7205-1G>A rs794728266
NM_000138.5(FBN1):c.7205-3C>G rs2141227114
NM_000138.5(FBN1):c.7217G>A (p.Cys2406Tyr) rs1131691479
NM_000138.5(FBN1):c.7246G>A (p.Gly2416Arg) rs794728269
NM_000138.5(FBN1):c.7252dup (p.Cys2418fs)
NM_000138.5(FBN1):c.7253G>A (p.Cys2418Tyr) rs794728270
NM_000138.5(FBN1):c.7267G>T (p.Gly2423Ter) rs794728271
NM_000138.5(FBN1):c.7295G>C (p.Gly2432Ala) rs1266993955
NM_000138.5(FBN1):c.7330+3_7330+6del rs1597516325
NM_000138.5(FBN1):c.7330+53dup rs879018362
NM_000138.5(FBN1):c.736+1G>A rs1064796866
NM_000138.5(FBN1):c.7364G>A (p.Cys2455Tyr) rs1555394409
NM_000138.5(FBN1):c.7366A>C (p.Asn2456His) rs2141226433
NM_000138.5(FBN1):c.737-25CT[2] rs72041020
NM_000138.5(FBN1):c.737-26del rs373084568
NM_000138.5(FBN1):c.737-2A>G rs1131691772
NM_000138.5(FBN1):c.7376G>A (p.Cys2459Tyr) rs1555394406
NM_000138.5(FBN1):c.7402T>C (p.Cys2468Arg) rs1085308004
NM_000138.5(FBN1):c.7418G>C (p.Gly2473Ala) rs2042971166
NM_000138.5(FBN1):c.7420T>G (p.Tyr2474Asp) rs2141226281
NM_000138.5(FBN1):c.7428G>A (p.Leu2476=) rs1229985371
NM_000138.5(FBN1):c.7432_7435del (p.Glu2478fs) rs1057518012
NM_000138.5(FBN1):c.7453+19T>C rs1555394389
NM_000138.5(FBN1):c.7453+1G>A rs397515851
NM_000138.5(FBN1):c.7454-1G>T rs2141222615
NM_000138.5(FBN1):c.7454A>G (p.Asp2485Gly) rs1085307921
NM_000138.5(FBN1):c.7465T>C (p.Cys2489Arg) rs1057520728
NM_000138.5(FBN1):c.7473C>G (p.Thr2491=) rs1555394248
NM_000138.5(FBN1):c.7489C>G (p.Gln2497Glu)
NM_000138.5(FBN1):c.7499G>A (p.Cys2500Tyr) rs794728160
NM_000138.5(FBN1):c.7505A>T (p.Asn2502Ile) rs1555394243
NM_000138.5(FBN1):c.7507del (p.Thr2503fs) rs1555394242
NM_000138.5(FBN1):c.7511T>C (p.Ile2504Thr) rs2141222485
NM_000138.5(FBN1):c.7523C>T (p.Thr2508Ile)
NM_000138.5(FBN1):c.7527C>A (p.Cys2509Ter) rs2141222456
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.7540G>A (p.Gly2514Arg) rs363811
NM_000138.5(FBN1):c.7577A>G (p.Asn2526Ser) rs794728336
NM_000138.5(FBN1):c.7599del (p.Leu2534fs) rs794728320
NM_000138.5(FBN1):c.7600C>A (p.Leu2534Met) rs794728274
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.7616G>A (p.Gly2539Asp) rs1555394203
NM_000138.5(FBN1):c.762del (p.Leu256fs) rs1064793559
NM_000138.5(FBN1):c.7663G>A (p.Gly2555Arg) rs1566891655
NM_000138.5(FBN1):c.7666T>G (p.Phe2556Val) rs193922234
NM_000138.5(FBN1):c.7669T>C (p.Ser2557Pro) rs1057524396
NM_000138.5(FBN1):c.7699G>A (p.Asp2567Asn)
NM_000138.5(FBN1):c.7700-277del rs200409772
NM_000138.5(FBN1):c.7700-288dup rs200409772
NM_000138.5(FBN1):c.7700-9C>G rs772261791
NM_000138.5(FBN1):c.7708G>A (p.Glu2570Lys) rs886038786
NM_000138.5(FBN1):c.7726C>T (p.Arg2576Cys) rs147195031
NM_000138.5(FBN1):c.7754T>A (p.Ile2585Asn)
NM_000138.5(FBN1):c.7765A>G (p.Arg2589Gly) rs111413134
NM_000138.5(FBN1):c.7770C>G (p.Cys2590Trp) rs1064796667
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.7783G>A (p.Gly2595Ser) rs2141220661
NM_000138.5(FBN1):c.7784G>T (p.Gly2595Val) rs397515857
NM_000138.5(FBN1):c.7787A>G (p.Tyr2596Cys) rs1566891404
NM_000138.5(FBN1):c.7806G>A (p.Trp2602Ter) rs193922236
NM_000138.5(FBN1):c.7815T>A (p.Cys2605Ter)
NM_000138.5(FBN1):c.7819+140G>A rs59270599
NM_000138.5(FBN1):c.7819+184del rs3214528
NM_000138.5(FBN1):c.7819+1G>A rs112907302
NM_000138.5(FBN1):c.7819+4A>G rs794728278
NM_000138.5(FBN1):c.7819+5G>A rs2141220566
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.7861T>G (p.Ser2621Ala) rs2042899021
NM_000138.5(FBN1):c.7862C>G (p.Ser2621Cys) rs1085307887
NM_000138.5(FBN1):c.7877T>A (p.Leu2626Gln) rs794728338
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.7931_7934dup (p.Cys2646fs) rs1555393865
NM_000138.5(FBN1):c.7955G>A (p.Cys2652Tyr) rs397515859
NM_000138.5(FBN1):c.7994A>G (p.Asn2665Ser) rs763173031
NM_000138.5(FBN1):c.7C>T (p.Arg3Ter) rs886038797
NM_000138.5(FBN1):c.8002G>T (p.Gly2668Cys) rs1057521100
NM_000138.5(FBN1):c.8005G>A (p.Gly2669Ser) rs794728281
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.8010C>G (p.Tyr2670Ter) rs794728282
NM_000138.5(FBN1):c.8020T>C (p.Cys2674Arg) rs1060501014
NM_000138.5(FBN1):c.8021G>A (p.Cys2674Tyr) rs1555393827
NM_000138.5(FBN1):c.8021G>C (p.Cys2674Ser) rs1555393827
NM_000138.5(FBN1):c.8033A>G (p.Tyr2678Cys)
NM_000138.5(FBN1):c.8038C>T (p.Arg2680Cys) rs794728283
NM_000138.5(FBN1):c.803_811del (p.Ser268_Glu270del) rs794728294
NM_000138.5(FBN1):c.8047C>T (p.Gln2683Ter) rs2141214520
NM_000138.5(FBN1):c.8051+640_8051+641del rs11299662
NM_000138.5(FBN1):c.8051+641del rs11299662
NM_000138.5(FBN1):c.8051+662G>A rs57935626
NM_000138.5(FBN1):c.8052-3C>G rs1057524642
NM_000138.5(FBN1):c.8064del (p.Gly2689fs) rs794728344
NM_000138.5(FBN1):c.806T>C (p.Phe269Ser) rs951026080
NM_000138.5(FBN1):c.8078G>C (p.Gly2693Ala) rs1555393664
NM_000138.5(FBN1):c.8080C>G (p.Arg2694Gly) rs200309328
NM_000138.5(FBN1):c.8080C>T (p.Arg2694Ter) rs200309328
NM_000138.5(FBN1):c.8081G>A (p.Arg2694Gln) rs371375126
NM_000138.5(FBN1):c.8108G>T (p.Gly2703Val) rs794728284
NM_000138.5(FBN1):c.811T>G (p.Cys271Gly) rs1060501019
NM_000138.5(FBN1):c.8147A>G (p.Tyr2716Cys) rs1555393656
NM_000138.5(FBN1):c.8148C>G (p.Tyr2716Ter) rs112642323
NM_000138.5(FBN1):c.8154dup (p.Lys2719Ter) rs794728321
NM_000138.5(FBN1):c.8170C>T (p.Pro2724Ser) rs1085307904
NM_000138.5(FBN1):c.8177G>T (p.Arg2726Leu) rs552157433
NM_000138.5(FBN1):c.8185A>C (p.Lys2729Gln) rs370096856
NM_000138.5(FBN1):c.8188C>T (p.Arg2730Trp) rs1371152380
NM_000138.5(FBN1):c.821C>A (p.Pro274His) rs1085307537
NM_000138.5(FBN1):c.8226+1G>A rs398122833
NM_000138.5(FBN1):c.8232G>C (p.Gln2744His) rs376119827
NM_000138.5(FBN1):c.8256del (p.Ala2754fs) rs1064793503
NM_000138.5(FBN1):c.8270A>T (p.Asp2757Val) rs1060501088
NM_000138.5(FBN1):c.8275G>T (p.Glu2759Ter) rs1057518023
NM_000138.5(FBN1):c.8281A>G (p.Thr2761Ala)
NM_000138.5(FBN1):c.8360dup (p.Thr2788fs) rs1555393548
NM_000138.5(FBN1):c.8405G>A (p.Gly2802Asp) rs770484928
NM_000138.5(FBN1):c.8412T>G (p.Phe2804Leu) rs794728285
NM_000138.5(FBN1):c.8417T>A (p.Ile2806Asn) rs2141209854
NM_000138.5(FBN1):c.8422del (p.Gln2808fs) rs1131691692
NM_000138.5(FBN1):c.8432G>A (p.Gly2811Glu) rs2042858918
NM_000138.5(FBN1):c.8441A>G (p.Tyr2814Cys) rs1597506745
NM_000138.5(FBN1):c.8480A>C (p.Tyr2827Ser) rs794728287
NM_000138.5(FBN1):c.8504C>T (p.Pro2835Leu)
NM_000138.5(FBN1):c.8506C>T (p.Leu2836Phe)
NM_000138.5(FBN1):c.8521G>T (p.Glu2841Ter) rs587782948
NM_000138.5(FBN1):c.8525_8529del (p.Leu2842fs) rs1064794130
NM_000138.5(FBN1):c.8536G>C (p.Glu2846Gln) rs1555393508
NM_000138.5(FBN1):c.8543_8544del (p.Lys2848fs) rs794728323
NM_000138.5(FBN1):c.8544del (p.Lys2848fs) rs794728323
NM_000138.5(FBN1):c.8579A>G (p.Asp2860Gly) rs368599541
NM_000138.5(FBN1):c.863-10del rs748672558
NM_000138.5(FBN1):c.863-7A>G rs771131700
NM_000138.5(FBN1):c.897_898del (p.Cys299_Glu300delinsTer) rs2141343447
NM_000138.5(FBN1):c.902G>A (p.Gly301Glu)
NM_000138.5(FBN1):c.911G>A (p.Cys304Tyr) rs1555401011
NM_000138.5(FBN1):c.917del (p.Asn306fs) rs1064793637
NM_000138.5(FBN1):c.946C>A (p.Pro316Thr) rs756687172
NM_000138.5(FBN1):c.95G>A (p.Gly32Glu) rs2140787667

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