ClinVar Miner

List of variants studied for Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection

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ClinVar version:
Total variants: 4473
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HGVS dbSNP gnomAD frequency
NM_000138.5(FBN1):c.6997+17C>G rs363832 0.67656
NM_000138.5(FBN1):c.1875T>C (p.Asn625=) rs25458 0.25074
NM_000138.5(FBN1):c.3464-5G>A rs11853943 0.16287
NM_000138.5(FBN1):c.156G>T (p.Ala52=) rs25398 0.06859
NM_000138.5(FBN1):c.6855T>C (p.Asp2285=) rs363836 0.02755
NM_000138.5(FBN1):c.6888G>A (p.Gln2296=) rs363830 0.02418
NM_000138.5(FBN1):c.7819+8A>C rs363838 0.02324
NM_000138.5(FBN1):c.1960+30G>A rs25459 0.01932
NM_000138.5(FBN1):c.4460-19A>G rs55840194 0.01556
NM_000138.5(FBN1):c.3082+6A>G rs79321504 0.01406
NM_000138.5(FBN1):c.3442C>G (p.Pro1148Ala) rs140598 0.01315
NM_000138.5(FBN1):c.3294C>T (p.Asp1098=) rs140587 0.01051
NM_000138.5(FBN1):c.3965-8T>C rs140637 0.00859
NM_000138.5(FBN1):c.986T>C (p.Ile329Thr) rs12324002 0.00737
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_000138.5(FBN1):c.6393C>T (p.Cys2131=) rs61730051 0.00522
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_000138.5(FBN1):c.306C>T (p.Cys102=) rs25388 0.00372
NM_000138.5(FBN1):c.3082+8del rs193922196 0.00359
NM_000138.5(FBN1):c.2678-15C>T rs181681840 0.00324
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.7497A>G (p.Leu2499=) rs148516442 0.00268
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.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.645A>C (p.Arg215=) rs200062771 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.4270C>G (p.Pro1424Ala) rs201273753 0.00034
NM_000138.5(FBN1):c.5964C>T (p.Thr1988=) rs113022801 0.00034
NM_000138.5(FBN1):c.5788+10C>A rs371560107 0.00032
NM_000138.5(FBN1):c.8363C>T (p.Thr2788Met) rs143007898 0.00031
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.1027G>A (p.Gly343Arg) rs146726731 0.00021
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_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_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.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_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.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_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_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_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_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.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_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_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_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_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_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_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.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_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_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.5495G>A (p.Arg1832His) rs764203302 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
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.(?_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_000015.10:g.48420802_48420807del rs1060501015
NC_000015.10:g.48434694_48434695delinsC rs397515834
NC_000015.10:g.48437317C>T rs1085307875
NC_000015.9:g.(?_48426485)_(48730124_?)del
NC_000015.9:g.(?_48670502)_(48703332_?)del
NC_000015.9:g.(?_48692137)_(48826328_?)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)_(48762973_?)del
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.(?_48713735)_(48796156_?)del
NC_000015.9:g.(?_48717965)_(48720525_?)del
NC_000015.9:g.(?_48719801)_(48723343_?)del
NC_000015.9:g.(?_48720523)_(48725205_?)del
NC_000015.9:g.(?_48722848)_(48723019_?)del
NC_000015.9:g.(?_48722912)_(48727571_?)del
NC_000015.9:g.(?_48725043)_(48725205_?)del
NC_000015.9:g.(?_48725043)_(48726930_?)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.(?_48738883)_(48741110_?)del
NC_000015.9:g.(?_48740945)_(48752534_?)del
NC_000015.9:g.(?_48744739)_(48760751_?)del
NC_000015.9:g.(?_48748814)_(48748979_?)del
NC_000015.9:g.(?_48750861)_(48752488_?)del
NC_000015.9:g.(?_48760115)_(48760319_?)dup
NC_000015.9:g.(?_48760115)_(48773997_?)dup
NC_000015.9:g.(?_48762825)_(48762959_?)del
NC_000015.9:g.(?_48766432)_(48766867_?)del
NC_000015.9:g.(?_48766715)_(48766857_?)del
NC_000015.9:g.(?_48773832)_(48888595_?)del
NC_000015.9:g.(?_48773832)_(48936966_?)del
NC_000015.9:g.(?_48780450)_(48783088_?)del
NC_000015.9:g.(?_48781877)_(48782069_?)del
NC_000015.9:g.(?_48782167)_(48927084_?)del
NC_000015.9:g.(?_48784638)_(48818472_?)del
NC_000015.9:g.(?_48788277)_(48936966_?)del
NC_000015.9:g.(?_48791030)_(48829850_?)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.(?_48793703)_(48796070_?)del
NC_000015.9:g.(?_48795974)_(48830015_?)del
NC_000015.9:g.(?_48800759)_(48800921_?)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.(?_48807564)_(48808579_?)del
NC_000015.9:g.(?_48812836)_(48905309_?)dup
NC_000015.9:g.(?_48812846)_(48905299_?)dup
NC_000015.9:g.(?_48826257)_(48826422_?)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.(?_48888460)_(48936966_?)del
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.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.5593_5594dup (p.Ile1866fs) rs886043709
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=)