ClinVar Miner

List of variants in gene FBN1 studied for autosomal dominant disease

Included ClinVar conditions (1245):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6514
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000138.5(FBN1):c.*730G>T rs13598 0.89602
NM_000138.5(FBN1):c.*2158G>A rs11070641 0.75699
NM_000138.5(FBN1):c.*1575T>G rs4775760 0.68682
NM_000138.5(FBN1):c.6997+17C>G rs363832 0.67656
NM_000138.5(FBN1):c.*314C>T rs1042078 0.63973
NM_000138.5(FBN1):c.1875T>C (p.Asn625=) rs25458 0.24641
NM_000138.5(FBN1):c.3464-5G>A rs11853943 0.16417
NM_000138.5(FBN1):c.156G>T (p.Ala52=) rs25398 0.06362
NM_000138.4(FBN1):c.-388C>T rs3825792 0.06008
NM_000138.5(FBN1):c.*1959G>A rs12050562 0.03427
NM_000138.5(FBN1):c.*2040T>C rs73390272 0.03120
NM_000138.5(FBN1):c.6855T>C (p.Asp2285=) rs363836 0.02843
NM_000138.5(FBN1):c.7819+8A>C rs363838 0.02425
NM_000138.5(FBN1):c.6888G>A (p.Gln2296=) rs363830 0.02418
NM_000138.5(FBN1):c.*57A>G rs363849 0.01992
NM_000138.5(FBN1):c.1960+30G>A rs25459 0.01932
NM_000138.5(FBN1):c.2420-58del rs149403312 0.01710
NM_000138.5(FBN1):c.4460-19A>G rs55840194 0.01708
NM_000138.5(FBN1):c.3442C>G (p.Pro1148Ala) rs140598 0.01690
NM_000138.5(FBN1):c.3082+6A>G rs79321504 0.01406
NM_000138.5(FBN1):c.*1989C>T rs56194244 0.01330
NM_000138.5(FBN1):c.*1368A>G rs77212138 0.01328
NM_000138.5(FBN1):c.3294C>T (p.Asp1098=) rs140587 0.01051
NM_000138.5(FBN1):c.3965-8T>C rs140637 0.00859
NM_000138.5(FBN1):c.*867G>T rs189749406 0.00798
NM_000138.5(FBN1):c.347-73A>G rs28730799 0.00744
NM_000138.5(FBN1):c.986T>C (p.Ile329Thr) rs12324002 0.00737
NM_000138.5(FBN1):c.*2153A>G rs116443051 0.00601
NM_000138.5(FBN1):c.5343G>A (p.Val1781=) rs140649 0.00529
NM_000138.5(FBN1):c.6393C>T (p.Cys2131=) rs61730051 0.00522
NM_000138.5(FBN1):c.2855-9C>T rs140590 0.00521
NM_000138.5(FBN1):c.*1580G>A rs17352989 0.00504
NM_000138.5(FBN1):c.*2674T>A rs142196699 0.00484
NM_000138.5(FBN1):c.*1084T>C rs3803350 0.00464
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 0.00423
NM_000138.5(FBN1):c.*1298C>G rs143446014 0.00360
NM_000138.5(FBN1):c.306C>T (p.Cys102=) rs25388 0.00356
NM_000138.5(FBN1):c.3082+8del rs193922196 0.00332
NM_000138.5(FBN1):c.2678-15C>T rs181681840 0.00324
NM_000138.5(FBN1):c.2055C>T (p.Cys685=) rs140603 0.00304
NM_000138.5(FBN1):c.*2524A>G rs75372203 0.00297
NM_000138.5(FBN1):c.8283A>T (p.Thr2761=) rs146120912 0.00287
NM_000138.5(FBN1):c.7497A>G (p.Leu2499=) rs148516442 0.00268
NM_000138.5(FBN1):c.*1245C>T rs181099623 0.00207
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.1714+54del rs193922184 0.00156
NM_000138.5(FBN1):c.*1252A>G rs566419089 0.00150
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.*2398G>T rs377530465 0.00135
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.6681A>C (p.Ser2227=) rs363824 0.00109
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr) rs112287730 0.00107
NM_000138.5(FBN1):c.7950T>C (p.Asn2650=) rs143055643 0.00104
NM_000138.5(FBN1):c.*2024A>G rs558488257 0.00103
NM_000138.5(FBN1):c.*2045G>A rs372254135 0.00097
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.510C>T (p.Tyr170=) rs111671429 0.00078
NM_000138.5(FBN1):c.*2091G>A rs575922741 0.00073
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met) rs112084407 0.00072
NM_000138.5(FBN1):c.2934C>G (p.Asp978Glu) rs138438849 0.00070
NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp) rs61746008 0.00070
NM_000138.5(FBN1):c.5296+14G>A rs140650 0.00068
NM_000138.5(FBN1):c.3077T>C (p.Phe1026Ser) rs200381100 0.00067
NM_000138.5(FBN1):c.*779C>T rs113200355 0.00064
NM_000138.5(FBN1):c.*1341C>T rs766719764 0.00061
NM_000138.5(FBN1):c.5065+10A>G rs375945405 0.00060
NM_000138.5(FBN1):c.3422C>T (p.Pro1141Leu) rs2228241 0.00057
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.6038-37G>A rs202137580 0.00049
NM_000138.5(FBN1):c.7346A>G (p.Asn2449Ser) rs146166400 0.00049
NM_000138.5(FBN1):c.7098C>T (p.Asp2366=) rs1005074 0.00044
NM_000138.5(FBN1):c.*43A>T rs144710695 0.00043
NM_000138.5(FBN1):c.3890A>G (p.Glu1297Gly) rs200342067 0.00043
NM_000138.5(FBN1):c.*1228T>C rs372333234 0.00042
NM_000138.5(FBN1):c.2148A>G (p.Gly716=) rs141039922 0.00042
NM_000138.5(FBN1):c.645A>C (p.Arg215=) rs200062771 0.00042
NM_000138.5(FBN1):c.5788+10C>A rs371560107 0.00041
NM_000138.5(FBN1):c.*2360C>G rs144404153 0.00038
NM_000138.5(FBN1):c.2895G>A (p.Glu965=) rs140591 0.00038
NM_000138.5(FBN1):c.2678-12T>C rs200368037 0.00036
NM_000138.5(FBN1):c.*2395G>A rs184719603 0.00035
NM_000138.5(FBN1):c.1265G>A (p.Gly422Glu) rs139968089 0.00035
NM_000138.5(FBN1):c.5964C>T (p.Thr1988=) rs113022801 0.00031
NM_000138.5(FBN1):c.8363C>T (p.Thr2788Met) rs143007898 0.00031
NM_000138.5(FBN1):c.*1720C>T rs557301792 0.00029
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.4640C>T (p.Thr1547Ile) rs183306990 0.00027
NM_000138.5(FBN1):c.*1949T>C rs534577080 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.2187A>C (p.Leu729=) rs61730055 0.00025
NM_000138.5(FBN1):c.7338C>T (p.Asn2446=) rs140178192 0.00025
NM_000138.5(FBN1):c.*1706C>A rs770825180 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.*1432A>T rs750902806 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.228C>T (p.Gly76=) rs141651917 0.00018
NM_000138.5(FBN1):c.3590-8T>C rs140600 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.4727T>C (p.Met1576Thr) rs776625874 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.3936C>T (p.Ser1312=) rs779913610 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.863-3C>T rs955955089 0.00015
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.6380-3A>G rs567703513 0.00014
NM_000138.5(FBN1):c.7056C>T (p.Ser2352=) rs149697299 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.538+4A>G rs375721252 0.00013
NM_000138.5(FBN1):c.6054C>T (p.Val2018=) rs542953863 0.00013
NM_000138.5(FBN1):c.8027C>T (p.Pro2676Leu) rs146469379 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.6038-8T>A rs569460847 0.00012
NM_000138.5(FBN1):c.*2037T>C rs544842106 0.00011
NM_000138.5(FBN1):c.1323A>G (p.Pro441=) rs202030761 0.00011
NM_000138.5(FBN1):c.1571C>T (p.Thr524Met) rs370575495 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.6576C>T (p.Cys2192=) rs369058466 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.*1981C>T rs1054860347 0.00009
NM_000138.5(FBN1):c.*2044C>T rs561911965 0.00009
NM_000138.5(FBN1):c.*2556G>A rs886051221 0.00009
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.1821T>C (p.Asp607=) rs149133920 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.3964+12C>T rs371986991 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.6052G>A (p.Val2018Ile) rs363802 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.7902C>T (p.Pro2634=) rs138621371 0.00009
NM_000138.5(FBN1):c.7964C>T (p.Ala2655Val) rs202240409 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.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.*254C>T rs886051243 0.00007
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.2746G>A (p.Val916Met) rs373644734 0.00007
NM_000138.5(FBN1):c.2772C>T (p.Gly924=) rs539699143 0.00007
NM_000138.5(FBN1):c.3171C>T (p.Ser1057=) rs144400069 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.6302C>T (p.Thr2101Met) rs200816828 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.7379A>G (p.Lys2460Arg) rs144189837 0.00007
NM_000138.5(FBN1):c.*1672G>A rs886051231 0.00006
NM_000138.5(FBN1):c.*2592T>C rs752936528 0.00006
NM_000138.5(FBN1):c.124G>C (p.Ala42Pro) rs377722423 0.00006
NM_000138.5(FBN1):c.1961-14T>C rs373918202 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.4337-14T>C rs78068079 0.00006
NM_000138.5(FBN1):c.4582+11A>G rs746907037 0.00006
NM_000138.5(FBN1):c.4583-18T>C rs1384860336 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.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.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.7965G>A (p.Ala2655=) rs199887650 0.00006
NM_000138.5(FBN1):c.7999G>A (p.Glu2667Lys) rs149062442 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.988+20G>A rs375760654 0.00006
NM_000138.5(FBN1):c.*1325T>C rs569152308 0.00005
NM_000138.5(FBN1):c.102G>C (p.Val34=) rs1294282675 0.00005
NM_000138.5(FBN1):c.1242T>G (p.Pro414=) rs371929738 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.1960+15T>C rs766086170 0.00005
NM_000138.5(FBN1):c.1992A>T (p.Gly664=) rs183929553 0.00005
NM_000138.5(FBN1):c.2293+14C>A rs552768691 0.00005
NM_000138.5(FBN1):c.2434G>A (p.Glu812Lys) rs201778577 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.2753C>G (p.Pro918Arg) rs557798071 0.00005
NM_000138.5(FBN1):c.2927G>A (p.Arg976His) rs140954477 0.00005
NM_000138.5(FBN1):c.2928C>T (p.Arg976=) rs761997019 0.00005
NM_000138.5(FBN1):c.346+16C>T rs369090026 0.00005
NM_000138.5(FBN1):c.3838+20T>C rs772287702 0.00005
NM_000138.5(FBN1):c.3896C>T (p.Thr1299Met) rs774851476 0.00005
NM_000138.5(FBN1):c.4162C>T (p.Arg1388Cys) rs770860280 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.5516A>T (p.Tyr1839Phe) rs758725993 0.00005
NM_000138.5(FBN1):c.6577G>A (p.Glu2193Lys) rs201361628 0.00005
NM_000138.5(FBN1):c.6699C>T (p.Pro2233=) rs372386014 0.00005
NM_000138.5(FBN1):c.6852T>C (p.Pro2284=) rs201226058 0.00005
NM_000138.5(FBN1):c.7051G>A (p.Gly2351Ser) rs746127796 0.00005
NM_000138.5(FBN1):c.7743C>T (p.Cys2581=) rs765772116 0.00005
NM_000138.5(FBN1):c.7820-4G>A rs750036723 0.00005
NM_000138.5(FBN1):c.8071G>A (p.Gly2691Ser) rs145105768 0.00005
NM_000138.5(FBN1):c.8149G>A (p.Glu2717Lys) rs187553035 0.00005
NM_000138.5(FBN1):c.8219A>G (p.Asn2740Ser) rs193922242 0.00005
NM_000138.5(FBN1):c.8311G>A (p.Val2771Ile) rs193922244 0.00005
NM_000138.5(FBN1):c.*1619T>A rs374297351 0.00004
NM_000138.5(FBN1):c.*2221A>G rs886051226 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+9T>C rs56102085 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.2075T>A (p.Phe692Tyr) rs955639059 0.00004
NM_000138.5(FBN1):c.2168-19G>T rs777612162 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.3295G>A (p.Glu1099Lys) rs763485521 0.00004
NM_000138.5(FBN1):c.3462C>T (p.Ile1154=) rs144339604 0.00004
NM_000138.5(FBN1):c.3503A>G (p.Asn1168Ser) rs776667707 0.00004
NM_000138.5(FBN1):c.3712+9G>T rs769251450 0.00004
NM_000138.5(FBN1):c.3837A>G (p.Val1279=) rs59007872 0.00004
NM_000138.5(FBN1):c.394G>A (p.Asp132Asn) rs542798262 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.492T>C (p.Asn164=) rs778007582 0.00004
NM_000138.5(FBN1):c.5442C>T (p.Asn1814=) rs397515822 0.00004
NM_000138.5(FBN1):c.5656C>G (p.Gln1886Glu) rs1038114901 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.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.716T>C (p.Ile239Thr) rs138990525 0.00004
NM_000138.5(FBN1):c.7210G>A (p.Asp2404Asn) rs530059069 0.00004
NM_000138.5(FBN1):c.7261G>A (p.Asp2421Asn) rs778715805 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.8052-12C>A rs376846065 0.00004
NM_000138.5(FBN1):c.8202C>T (p.Asn2734=) rs113904256 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.*1375A>C rs1049315076 0.00003
NM_000138.5(FBN1):c.*300T>C rs1011876253 0.00003
NM_000138.5(FBN1):c.*764G>A rs55717426 0.00003
NM_000138.5(FBN1):c.*845C>T rs1022238055 0.00003
NM_000138.5(FBN1):c.*968G>A rs999275120 0.00003
NM_000138.5(FBN1):c.1158C>T (p.Asn386=) rs368737502 0.00003
NM_000138.5(FBN1):c.1327+7A>G rs529150174 0.00003
NM_000138.5(FBN1):c.1370G>A (p.Arg457His) rs141217134 0.00003
NM_000138.5(FBN1):c.139G>A (p.Gly47Ser) rs762400500 0.00003
NM_000138.5(FBN1):c.1566A>G (p.Thr522=) rs531264662 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.1837+4C>T rs199950267 0.00003
NM_000138.5(FBN1):c.1951G>A (p.Val651Met) rs1335043561 0.00003
NM_000138.5(FBN1):c.1961-3T>C rs751388860 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.2154G>A (p.Thr718=) rs377033515 0.00003
NM_000138.5(FBN1):c.2290G>A (p.Val764Ile) rs769641351 0.00003
NM_000138.5(FBN1):c.2658G>A (p.Pro886=) rs193922192 0.00003
NM_000138.5(FBN1):c.2677+18T>G rs369069428 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.2884T>C (p.Tyr962His) rs1179986943 0.00003
NM_000138.5(FBN1):c.2930T>G (p.Met977Arg) rs199682686 0.00003
NM_000138.5(FBN1):c.3026C>G (p.Pro1009Arg) rs148076256 0.00003
NM_000138.5(FBN1):c.3043G>A (p.Ala1015Thr) rs55831697 0.00003
NM_000138.5(FBN1):c.3078C>T (p.Phe1026=) rs553411757 0.00003
NM_000138.5(FBN1):c.3145G>A (p.Gly1049Ser) rs778181932 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.3415G>C (p.Glu1139Gln) rs780972853 0.00003
NM_000138.5(FBN1):c.3455C>T (p.Ala1152Val) rs539103389 0.00003
NM_000138.5(FBN1):c.347-15T>C rs749417882 0.00003
NM_000138.5(FBN1):c.3480G>A (p.Glu1160=) rs149625173 0.00003
NM_000138.5(FBN1):c.350A>G (p.Gln117Arg) rs777826174 0.00003
NM_000138.5(FBN1):c.3513C>T (p.Cys1171=) rs775417975 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.4197C>T (p.Gly1399=) rs376886165 0.00003
NM_000138.5(FBN1):c.4210+10C>T rs200548889 0.00003
NM_000138.5(FBN1):c.4337-12C>T rs573468967 0.00003
NM_000138.5(FBN1):c.4337-5C>G rs370959127 0.00003
NM_000138.5(FBN1):c.4337-9C>T rs201001403 0.00003
NM_000138.5(FBN1):c.4371C>T (p.Val1457=) rs781641370 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.4421T>C (p.Ile1474Thr) rs375670968 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.4748-6C>T rs376611471 0.00003
NM_000138.5(FBN1):c.4803C>T (p.Thr1601=) rs747757998 0.00003
NM_000138.5(FBN1):c.4804G>A (p.Val1602Ile) rs780957696 0.00003
NM_000138.5(FBN1):c.4817-14T>G rs1159141633 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.5467G>A (p.Glu1823Lys) rs567397762 0.00003
NM_000138.5(FBN1):c.5517C>T (p.Tyr1839=) rs750667880 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.6044A>T (p.Asp2015Val) rs746719632 0.00003
NM_000138.5(FBN1):c.6189G>A (p.Ala2063=) rs375624881 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.6379+11T>C rs370322263 0.00003
NM_000138.5(FBN1):c.6387C>T (p.Asp2129=) rs147342485 0.00003
NM_000138.5(FBN1):c.6623A>G (p.Asn2208Ser) rs146063839 0.00003
NM_000138.5(FBN1):c.6707A>T (p.Tyr2236Phe) rs368439899 0.00003
NM_000138.5(FBN1):c.6739+16C>T rs375439292 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.7129A>G (p.Ile2377Val) rs955085872 0.00003
NM_000138.5(FBN1):c.7204+6T>G rs534417939 0.00003
NM_000138.5(FBN1):c.7230C>T (p.His2410=) rs193922231 0.00003
NM_000138.5(FBN1):c.7241G>A (p.Arg2414Gln) rs143863014 0.00003
NM_000138.5(FBN1):c.7430A>G (p.Gln2477Arg) rs747777955 0.00003
NM_000138.5(FBN1):c.7451A>G (p.Lys2484Arg) rs374630707 0.00003
NM_000138.5(FBN1):c.7524A>G (p.Thr2508=) rs201992942 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.7700-13G>C rs775509707 0.00003
NM_000138.5(FBN1):c.7842T>G (p.Ala2614=) rs764496589 0.00003
NM_000138.5(FBN1):c.7905C>T (p.Ala2635=) rs771798375 0.00003
NM_000138.5(FBN1):c.8069T>G (p.Met2690Arg) rs747476726 0.00003
NM_000138.5(FBN1):c.8179G>A (p.Gly2727Ser) rs758748297 0.00003
NM_000138.5(FBN1):c.8224G>A (p.Glu2742Lys) rs750199580 0.00003
NM_000138.5(FBN1):c.8293G>A (p.Ala2765Thr) rs1008093328 0.00003
NM_000138.5(FBN1):c.8308C>T (p.His2770Tyr) rs774658482 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.*1249A>G rs1456413075 0.00002
NM_000138.5(FBN1):c.*1398G>C rs886051234 0.00002
NM_000138.5(FBN1):c.*1484C>T rs533502309 0.00002
NM_000138.5(FBN1):c.*253A>T rs539383558 0.00002
NM_000138.5(FBN1):c.1277C>T (p.Pro426Leu) rs146044644 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.1616G>A (p.Arg539Gln) rs767893806 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.169A>C (p.Asn57His) rs2044669685 0.00002
NM_000138.5(FBN1):c.1714+10G>A rs760474361 0.00002
NM_000138.5(FBN1):c.1866C>T (p.Ile622=) rs780255280 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.2344A>G (p.Arg782Gly) rs752891726 0.00002
NM_000138.5(FBN1):c.2390T>G (p.Ile797Ser) rs983469033 0.00002
NM_000138.5(FBN1):c.2419+7C>T rs773155136 0.00002
NM_000138.5(FBN1):c.244G>A (p.Val82Ile) rs148007052 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.2678-3C>T rs747274959 0.00002
NM_000138.5(FBN1):c.2728+18T>C rs751336956 0.00002
NM_000138.5(FBN1):c.2728+20A>C rs765993846 0.00002
NM_000138.5(FBN1):c.2854+5A>G rs762989672 0.00002
NM_000138.5(FBN1):c.2854+7A>G rs773325628 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>A (p.Arg961=) rs142964120 0.00002
NM_000138.5(FBN1):c.2893G>C (p.Glu965Gln) rs748905831 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.2979C>T (p.Cys993=) rs150126098 0.00002
NM_000138.5(FBN1):c.2980G>A (p.Glu994Lys) rs780301913 0.00002
NM_000138.5(FBN1):c.3016G>A (p.Glu1006Lys) rs754040534 0.00002
NM_000138.5(FBN1):c.3082+11dup rs767459487 0.00002
NM_000138.5(FBN1):c.3246C>T (p.Gly1082=) rs138855754 0.00002
NM_000138.5(FBN1):c.3334A>T (p.Met1112Leu) rs140975645 0.00002
NM_000138.5(FBN1):c.3338-15A>G rs200496779 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.3504T>C (p.Asn1168=) rs768688637 0.00002
NM_000138.5(FBN1):c.3575G>A (p.Arg1192Lys) rs751764864 0.00002
NM_000138.5(FBN1):c.3688A>C (p.Met1230Leu) rs759424465 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.3798T>C (p.Tyr1266=) rs112987543 0.00002
NM_000138.5(FBN1):c.3845A>G (p.Asn1282Ser) rs140647 0.00002
NM_000138.5(FBN1):c.3937G>A (p.Gly1313Ser) rs1156984408 0.00002
NM_000138.5(FBN1):c.3964+13A>C rs1054296825 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.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.443-13C>T rs1406819732 0.00002
NM_000138.5(FBN1):c.4446C>T (p.Gly1482=) rs772727859 0.00002
NM_000138.5(FBN1):c.4488G>A (p.Thr1496=) rs370494288 0.00002
NM_000138.5(FBN1):c.4662A>C (p.Gly1554=) rs1237635661 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.4698G>A (p.Leu1566=) rs143544916 0.00002
NM_000138.5(FBN1):c.4894C>T (p.Arg1632Cys) rs544990350 0.00002
NM_000138.5(FBN1):c.4895G>A (p.Arg1632His) rs756227025 0.00002
NM_000138.5(FBN1):c.4942+15T>C rs1256030464 0.00002
NM_000138.5(FBN1):c.4999G>A (p.Val1667Ile) rs140626 0.00002
NM_000138.5(FBN1):c.5086T>C (p.Tyr1696His) rs373320952 0.00002
NM_000138.5(FBN1):c.5123G>A (p.Gly1708Glu) rs758600004 0.00002
NM_000138.5(FBN1):c.5180G>A (p.Arg1727Gln) rs780993677 0.00002
NM_000138.5(FBN1):c.5422+13A>T rs546404087 0.00002
NM_000138.5(FBN1):c.5423-5C>T rs368750818 0.00002
NM_000138.5(FBN1):c.5463C>T (p.Asn1821=) rs753966383 0.00002
NM_000138.5(FBN1):c.5466C>T (p.Ala1822=) rs947248042 0.00002
NM_000138.5(FBN1):c.5518C>T (p.Arg1840Cys) rs765387131 0.00002
NM_000138.5(FBN1):c.5519G>A (p.Arg1840His) rs369482365 0.00002
NM_000138.5(FBN1):c.5603C>T (p.Thr1868Ile) rs145082616 0.00002
NM_000138.5(FBN1):c.5771A>G (p.His1924Arg) rs748230405 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.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.6313+9G>A rs1374615543 0.00002
NM_000138.5(FBN1):c.6314-16A>G rs759468929 0.00002
NM_000138.5(FBN1):c.6379+4A>G rs780370404 0.00002
NM_000138.5(FBN1):c.639C>T (p.Val213=) rs543984363 0.00002
NM_000138.5(FBN1):c.6496+10A>C rs375744146 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.6728G>A (p.Arg2243Lys) rs769589759 0.00002
NM_000138.5(FBN1):c.6732G>A (p.Met2244Ile) rs780960909 0.00002
NM_000138.5(FBN1):c.6762A>G (p.Gly2254=) rs1432789903 0.00002
NM_000138.5(FBN1):c.6998-7C>T rs764823572 0.00002
NM_000138.5(FBN1):c.7330+10T>G rs375569743 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.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.7932A>T (p.Gly2644=) rs1597509710 0.00002
NM_000138.5(FBN1):c.793A>T (p.Thr265Ser) rs982468949 0.00002
NM_000138.5(FBN1):c.796G>A (p.Val266Ile) rs201669595 0.00002
NM_000138.5(FBN1):c.8082A>C (p.Arg2694=) rs1597507799 0.00002
NM_000138.5(FBN1):c.8130C>T (p.Leu2710=) rs372105662 0.00002
NM_000138.5(FBN1):c.8189G>A (p.Arg2730Gln) rs200231626 0.00002
NM_000138.5(FBN1):c.8203G>A (p.Glu2735Lys) rs756124960 0.00002
NM_000138.5(FBN1):c.8227-10G>A rs765093559 0.00002
NM_000138.5(FBN1):c.832A>G (p.Lys278Glu) rs775505429 0.00002
NM_000138.5(FBN1):c.8386G>A (p.Glu2796Lys) rs112310699 0.00002
NM_000138.5(FBN1):c.8495G>A (p.Ser2832Asn) rs571906167 0.00002
NM_000138.5(FBN1):c.8523A>T (p.Glu2841Asp) rs567107508 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.989-20A>G rs763199850 0.00002
NM_000138.4(FBN1):c.-319G>T rs886051256 0.00001
NM_000138.5(FBN1):c.*1201T>G rs574181586 0.00001
NM_000138.5(FBN1):c.*1437G>A rs549498511 0.00001
NM_000138.5(FBN1):c.*202_*203del rs766125141 0.00001
NM_000138.5(FBN1):c.*235T>C rs1597506366 0.00001
NM_000138.5(FBN1):c.*252G>A rs1407193739 0.00001
NM_000138.5(FBN1):c.*286C>T rs886051241 0.00001
NM_000138.5(FBN1):c.*311G>A rs894774727 0.00001
NM_000138.5(FBN1):c.-12C>T rs1308087374 0.00001
NM_000138.5(FBN1):c.-7C>T rs752581747 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.1193G>A (p.Arg398Lys) rs886051250 0.00001
NM_000138.5(FBN1):c.1200A>G (p.Glu400=) rs1182774402 0.00001
NM_000138.5(FBN1):c.1201T>A (p.Tyr401Asn) rs2043801068 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.1220G>A (p.Gly407Asp) rs758241018 0.00001
NM_000138.5(FBN1):c.1262C>T (p.Pro421Leu) rs1168838915 0.00001
NM_000138.5(FBN1):c.126C>G (p.Ala42=) rs1297209434 0.00001
NM_000138.5(FBN1):c.1289C>T (p.Pro430Leu) rs771134832 0.00001
NM_000138.5(FBN1):c.1311A>G (p.Pro437=) rs1253494702 0.00001
NM_000138.5(FBN1):c.1315C>A (p.Arg439=) rs1195398902 0.00001
NM_000138.5(FBN1):c.1316G>A (p.Arg439Gln) rs568810058 0.00001
NM_000138.5(FBN1):c.1324C>T (p.Pro442Ser) rs750320579 0.00001
NM_000138.5(FBN1):c.1328-9T>A rs1209671382 0.00001
NM_000138.5(FBN1):c.133A>G (p.Arg45Gly) rs1597652333 0.00001
NM_000138.5(FBN1):c.1344C>T (p.Asn448=) rs1281826850 0.00001
NM_000138.5(FBN1):c.1373A>G (p.Tyr458Cys) rs749133312 0.00001
NM_000138.5(FBN1):c.13C>T (p.Arg5Cys) rs759323371 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.1418G>A (p.Arg473Gln) rs754397542 0.00001
NM_000138.5(FBN1):c.1454G>A (p.Arg485His) rs371985966 0.00001
NM_000138.5(FBN1):c.1454G>T (p.Arg485Leu) rs371985966 0.00001
NM_000138.5(FBN1):c.1458G>A (p.Gly486=) rs766839681 0.00001
NM_000138.5(FBN1):c.1460A>C (p.Glu487Ala) rs763431921 0.00001
NM_000138.5(FBN1):c.1468+12A>G rs2505617295 0.00001
NM_000138.5(FBN1):c.1468+19G>A rs1044516005 0.00001
NM_000138.5(FBN1):c.1471G>A (p.Val491Ile) rs373751659 0.00001
NM_000138.5(FBN1):c.1476T>C (p.Asp492=) rs758967612 0.00001
NM_000138.5(FBN1):c.1494C>T (p.Pro498=) rs765595961 0.00001
NM_000138.5(FBN1):c.149A>T (p.His50Leu) rs886039132 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.1542G>A (p.Gln514=) rs1178940750 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.1586G>A (p.Arg529Gln) rs1441536824 0.00001
NM_000138.5(FBN1):c.1588+16C>T rs2505613335 0.00001
NM_000138.5(FBN1):c.1599G>A (p.Glu533=) rs778372635 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.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>C (p.Ile547Leu) rs759813328 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.1665C>T (p.Cys555=) rs531101773 0.00001
NM_000138.5(FBN1):c.1666G>A (p.Val556Met) rs1239988676 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>G (p.Arg565Gly) rs113422242 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.1700G>A (p.Gly567Glu) rs768489747 0.00001
NM_000138.5(FBN1):c.1714+13T>A rs374370492 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.1715-17A>G rs1004819057 0.00001
NM_000138.5(FBN1):c.1731C>T (p.Ser577=) rs1453708754 0.00001
NM_000138.5(FBN1):c.1732A>G (p.Ile578Val) rs1239073737 0.00001
NM_000138.5(FBN1):c.1734A>G (p.Ile578Met) rs760582295 0.00001
NM_000138.5(FBN1):c.174C>A (p.Val58=) rs369096927 0.00001
NM_000138.5(FBN1):c.1761T>C (p.Cys587=) rs1060504143 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.1798C>G (p.Pro600Ala) rs1317889409 0.00001
NM_000138.5(FBN1):c.181T>C (p.Ser61Pro) rs1166519673 0.00001
NM_000138.5(FBN1):c.1825C>T (p.Arg609Cys) rs772574901 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+12A>G rs1216844008 0.00001
NM_000138.5(FBN1):c.1838-17G>T rs762500537 0.00001
NM_000138.5(FBN1):c.1838-4A>G rs2043698312 0.00001
NM_000138.5(FBN1):c.1838-7G>A rs772849691 0.00001
NM_000138.5(FBN1):c.1841T>C (p.Ile614Thr) rs762427180 0.00001
NM_000138.5(FBN1):c.1844A>G (p.Asn615Ser) rs397515763 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.1881T>A (p.Arg627=) rs1351176028 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+14A>G rs564873042 0.00001
NM_000138.5(FBN1):c.1977C>T (p.Ser659=) rs750118053 0.00001
NM_000138.5(FBN1):c.1980A>G (p.Thr660=) rs531454879 0.00001
NM_000138.5(FBN1):c.1991G>A (p.Gly664Glu) rs1436966674 0.00001
NM_000138.5(FBN1):c.2017C>T (p.Pro673Ser) rs766346620 0.00001
NM_000138.5(FBN1):c.2020T>C (p.Leu674=) rs753453348 0.00001
NM_000138.5(FBN1):c.2031T>A (p.Ala677=) rs762312642 0.00001
NM_000138.5(FBN1):c.2057C>A (p.Ala686Asp) rs193922186 0.00001
NM_000138.5(FBN1):c.2058C>A (p.Ala686=) rs759859967 0.00001
NM_000138.5(FBN1):c.2067G>A (p.Glu689=) rs1489658969 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.2114C>T (p.Ala705Val) rs1426292408 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.2165G>A (p.Ser722Asn) rs1197990559 0.00001
NM_000138.5(FBN1):c.2167+19A>C rs1200837792 0.00001
NM_000138.5(FBN1):c.2168-4G>A rs2141306607 0.00001
NM_000138.5(FBN1):c.2168-6G>A rs200924505 0.00001
NM_000138.5(FBN1):c.2188G>A (p.Asp730Asn) rs199625633 0.00001
NM_000138.5(FBN1):c.2208T>G (p.Asn736Lys) rs1450795956 0.00001
NM_000138.5(FBN1):c.2219A>G (p.Glu740Gly) rs2043616665 0.00001
NM_000138.5(FBN1):c.2228G>A (p.Arg743His) rs761942436 0.00001
NM_000138.5(FBN1):c.223C>T (p.Pro75Ser) rs886051252 0.00001
NM_000138.5(FBN1):c.2253T>C (p.Asn751=) rs1566912218 0.00001
NM_000138.5(FBN1):c.2271T>C (p.Asp757=) rs1356417685 0.00001
NM_000138.5(FBN1):c.2293+16C>G rs772889439 0.00001
NM_000138.5(FBN1):c.2293+8G>T rs1348851100 0.00001
NM_000138.5(FBN1):c.2294-19A>C rs1353634853 0.00001
NM_000138.5(FBN1):c.2294-19A>G rs1353634853 0.00001
NM_000138.5(FBN1):c.2296A>G (p.Ile766Val) rs2043607629 0.00001
NM_000138.5(FBN1):c.2323C>T (p.Leu775Phe) rs960849031 0.00001
NM_000138.5(FBN1):c.2340A>G (p.Gln780=) rs2505573738 0.00001
NM_000138.5(FBN1):c.2349T>C (p.Asn783=) rs1057522903 0.00001
NM_000138.5(FBN1):c.2377C>T (p.Pro793Ser) rs767639889 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.2419+16G>C rs1340939267 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.2451T>G (p.Ile817Met) rs1307248706 0.00001
NM_000138.5(FBN1):c.2458G>T (p.Val820Phe) rs2043600154 0.00001
NM_000138.5(FBN1):c.247+9A>C rs1298547542 0.00001
NM_000138.5(FBN1):c.2473C>T (p.Pro825Ser) rs1326854455 0.00001
NM_000138.5(FBN1):c.2515G>A (p.Asp839Asn) rs1319430305 0.00001
NM_000138.5(FBN1):c.2531T>C (p.Ile844Thr) rs751564716 0.00001
NM_000138.5(FBN1):c.2539+11T>C rs1566911690 0.00001
NM_000138.5(FBN1):c.2539+3A>G rs1259478194 0.00001
NM_000138.5(FBN1):c.2540-13C>T rs1057522904 0.00001
NM_000138.5(FBN1):c.2540-7T>C rs749692510 0.00001
NM_000138.5(FBN1):c.2564A>G (p.Gln855Arg) rs2043596063 0.00001
NM_000138.5(FBN1):c.2568T>G (p.Thr856=) rs781607814 0.00001
NM_000138.5(FBN1):c.256C>T (p.Arg86Trp) rs769979790 0.00001
NM_000138.5(FBN1):c.2577T>C (p.Asp859=) rs779997664 0.00001
NM_000138.5(FBN1):c.2579G>A (p.Gly860Glu) rs757219243 0.00001
NM_000138.5(FBN1):c.2590A>G (p.Ile864Val) rs763895619 0.00001
NM_000138.5(FBN1):c.2598C>T (p.Ile866=) rs752457534 0.00001
NM_000138.5(FBN1):c.2601T>C (p.Asn867=) rs759097188 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.2640T>G (p.Gly880=) rs1597568836 0.00001
NM_000138.5(FBN1):c.2666T>A (p.Leu889Gln) rs1393818056 0.00001
NM_000138.5(FBN1):c.2674G>A (p.Val892Ile) rs758357747 0.00001
NM_000138.5(FBN1):c.2677+14A>G rs1309423203 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.2721A>G (p.Gln907=) rs781062880 0.00001
NM_000138.5(FBN1):c.2729-13T>G rs1167118935 0.00001
NM_000138.5(FBN1):c.2729-16T>C rs1732085225 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.2784C>T (p.Asn928=) rs2043569175 0.00001
NM_000138.5(FBN1):c.2785A>T (p.Thr929Ser) rs372203315 0.00001
NM_000138.5(FBN1):c.2786C>T (p.Thr929Ile) rs764560018 0.00001
NM_000138.5(FBN1):c.2791G>A (p.Gly931Arg) rs761232763 0.00001
NM_000138.5(FBN1):c.2792G>C (p.Gly931Ala) rs200078617 0.00001
NM_000138.5(FBN1):c.2808G>A (p.Gln936=) rs1423753530 0.00001
NM_000138.5(FBN1):c.2813C>T (p.Pro938Leu) rs758257941 0.00001
NM_000138.5(FBN1):c.284C>T (p.Ser95Leu) rs922684362 0.00001
NM_000138.5(FBN1):c.2854+11A>G rs1418131999 0.00001
NM_000138.5(FBN1):c.2854+15C>T rs746894379 0.00001
NM_000138.5(FBN1):c.2854+9T>G rs946673413 0.00001
NM_000138.5(FBN1):c.2855-4A>G rs769851513 0.00001
NM_000138.5(FBN1):c.2855-8T>C rs193922195 0.00001
NM_000138.5(FBN1):c.2858T>C (p.Ile953Thr) rs1177856657 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>T (p.Arg961Ser) 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.2911A>G (p.Ile971Val) rs766660415 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.2937C>T (p.Ala979=) rs2043543946 0.00001
NM_000138.5(FBN1):c.2957C>T (p.Ala986Val) rs1490859586 0.00001
NM_000138.5(FBN1):c.2977T>C (p.Cys993Arg) rs1206813753 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.3020T>G (p.Leu1007Arg) rs794728200 0.00001
NM_000138.5(FBN1):c.3021G>A (p.Leu1007=) rs764203356 0.00001
NM_000138.5(FBN1):c.302C>T (p.Thr101Ile) rs778655626 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.3082+8G>A rs537782857 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.3142A>G (p.Ile1048Val) rs2229324 0.00001
NM_000138.5(FBN1):c.3184G>A (p.Asp1062Asn) rs758366498 0.00001
NM_000138.5(FBN1):c.3208+14C>G rs532545840 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.3213T>A (p.Ile1071=) rs747076890 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.3259G>A (p.Val1087Met) rs2043525424 0.00001
NM_000138.5(FBN1):c.3267C>G (p.Thr1089=) rs572333336 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.3340A>G (p.Ile1114Val) rs1006702602 0.00001
NM_000138.5(FBN1):c.3348G>A (p.Glu1116=) rs1183230087 0.00001
NM_000138.5(FBN1):c.3368T>A (p.Leu1123Gln) rs201336778 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.3394A>G (p.Thr1132Ala) rs2141293669 0.00001
NM_000138.5(FBN1):c.33G>C (p.Leu11=) rs1164486664 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.3441C>T (p.Ser1147=) rs142058321 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.3465C>T (p.Asp1155=) rs886038249 0.00001
NM_000138.5(FBN1):c.347-16C>G rs752093190 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.3493C>T (p.Leu1165=) rs2043515081 0.00001
NM_000138.5(FBN1):c.351A>T (p.Gln117His) rs201083095 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.354C>T (p.His118=) rs1301371837 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.3569C>G (p.Pro1190Arg) rs2043514137 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.3573T>A (p.Asp1191Glu) rs150912619 0.00001
NM_000138.5(FBN1):c.3579A>G (p.Leu1193=) rs1013177717 0.00001
NM_000138.5(FBN1):c.3586G>A (p.Val1196Ile) rs1352765609 0.00001
NM_000138.5(FBN1):c.3590-19T>C rs770468566 0.00001
NM_000138.5(FBN1):c.3590-7C>A rs748603881 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.3689T>C (p.Met1230Thr) rs774003646 0.00001
NM_000138.5(FBN1):c.3690G>A (p.Met1230Ile) rs555552301 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.3730G>A (p.Asp1244Asn) rs1261465806 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.3780G>A (p.Glu1260=) rs1435501312 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.381T>C (p.Gly127=) rs1359132117 0.00001
NM_000138.5(FBN1):c.3834T>C (p.Cys1278=) rs886039492 0.00001
NM_000138.5(FBN1):c.3853G>C (p.Asp1285His) rs1555398171 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.3965-10A>G rs2505519071 0.00001
NM_000138.5(FBN1):c.3969C>T (p.Ile1323=) rs536546914 0.00001
NM_000138.5(FBN1):c.396T>C (p.Asp132=) rs147481356 0.00001
NM_000138.5(FBN1):c.3975A>G (p.Glu1325=) rs1555397741 0.00001
NM_000138.5(FBN1):c.3988G>A (p.Ala1330Thr) rs1272869223 0.00001
NM_000138.5(FBN1):c.4007A>G (p.His1336Arg) rs886038781 0.00001
NM_000138.5(FBN1):c.4012G>A (p.Val1338Ile) rs1416288007 0.00001
NM_000138.5(FBN1):c.4046G>C (p.Ser1349Thr) rs1373690375 0.00001
NM_000138.5(FBN1):c.4050C>T (p.Cys1350=) rs201058219 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.4065T>A (p.Ile1355=) rs1683581440 0.00001
NM_000138.5(FBN1):c.4066G>A (p.Gly1356Arg) rs867460746 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.4088-8T>C rs780882174 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.4114C>T (p.His1372Tyr) rs1367740488 0.00001
NM_000138.5(FBN1):c.4157C>T (p.Ser1386Phe) rs794728219 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.4174A>G (p.Lys1392Glu) rs756683929 0.00001
NM_000138.5(FBN1):c.4191T>C (p.Gly1397=) rs2505517384 0.00001
NM_000138.5(FBN1):c.4193A>G (p.Asp1398Gly) rs781045902 0.00001
NM_000138.5(FBN1):c.4194T>C (p.Asp1398=) rs2043401428 0.00001
NM_000138.5(FBN1):c.4209A>G (p.Thr1403=) rs886038931 0.00001
NM_000138.5(FBN1):c.426G>A (p.Gly142=) rs1391070461 0.00001
NM_000138.5(FBN1):c.431A>G (p.His144Arg) rs1389741787 0.00001
NM_000138.5(FBN1):c.4337-6C>G rs1225924246 0.00001
NM_000138.5(FBN1):c.4337-7C>T rs2043367095 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.442+4A>C rs768207411 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.443-20G>A rs760916332 0.00001
NM_000138.5(FBN1):c.4439G>C (p.Arg1480Thr) rs2505508344 0.00001
NM_000138.5(FBN1):c.4444G>A (p.Gly1482Ser) rs762532435 0.00001
NM_000138.5(FBN1):c.4459+15G>T rs761351282 0.00001
NM_000138.5(FBN1):c.4459+16G>A rs777052289 0.00001
NM_000138.5(FBN1):c.4460-8G>A rs193922204 0.00001
NM_000138.5(FBN1):c.4484C>T (p.Thr1495Ile) rs1387810687 0.00001
NM_000138.5(FBN1):c.4485C>T (p.Thr1495=) rs761288191 0.00001
NM_000138.5(FBN1):c.4492A>G (p.Ile1498Val) rs761187818 0.00001
NM_000138.5(FBN1):c.451G>C (p.Glu151Gln) rs1180715983 0.00001
NM_000138.5(FBN1):c.4521C>T (p.Gly1507=) rs1425634624 0.00001
NM_000138.5(FBN1):c.4527T>C (p.Tyr1509=) rs776021250 0.00001
NM_000138.5(FBN1):c.4530C>T (p.Ile1510=) rs772526144 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.4583-6A>T rs1212890785 0.00001
NM_000138.5(FBN1):c.4586C>A (p.Thr1529Asn) rs794728227 0.00001
NM_000138.5(FBN1):c.4589G>T (p.Arg1530Leu) rs778710767 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.4639A>G (p.Thr1547Ala) rs2043337594 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.4738G>A (p.Val1580Met) rs794728230 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.4748-19T>A rs1366986245 0.00001
NM_000138.5(FBN1):c.4749C>T (p.Ser1583=) rs1275608178 0.00001
NM_000138.5(FBN1):c.4772G>A (p.Gly1591Glu) rs772818208 0.00001
NM_000138.5(FBN1):c.4791A>C (p.Pro1597=) rs2043316050 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.4817-11G>T rs2505497271 0.00001
NM_000138.5(FBN1):c.4817-16G>T rs779371268 0.00001
NM_000138.5(FBN1):c.4822G>A (p.Asp1608Asn) rs2043314957 0.00001
NM_000138.5(FBN1):c.4824T>C (p.Asp1608=) rs1057521341 0.00001
NM_000138.5(FBN1):c.4842A>G (p.Pro1614=) rs779362502 0.00001
NM_000138.5(FBN1):c.484G>A (p.Ala162Thr) rs193922210 0.00001
NM_000138.5(FBN1):c.4863A>G (p.Lys1621=) rs2043314687 0.00001
NM_000138.5(FBN1):c.4904C>A (p.Thr1635Asn) rs1460284193 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.4962T>C (p.Thr1654=) rs151180372 0.00001
NM_000138.5(FBN1):c.4980A>G (p.Pro1660=) rs757202254 0.00001
NM_000138.5(FBN1):c.5007C>T (p.Asn1669=) rs1267512714 0.00001
NM_000138.5(FBN1):c.5013C>T (p.Thr1671=) rs767185038 0.00001
NM_000138.5(FBN1):c.5035A>C (p.Met1679Leu) rs759114752 0.00001
NM_000138.5(FBN1):c.5051G>A (p.Gly1684Glu) rs1414890312 0.00001
NM_000138.5(FBN1):c.5063T>C (p.Met1688Thr) rs771444877 0.00001
NM_000138.5(FBN1):c.5065+4A>G rs370287674 0.00001
NM_000138.5(FBN1):c.5065+5G>A rs773660804 0.00001
NM_000138.5(FBN1):c.5066-19T>C rs1460729017 0.00001
NM_000138.5(FBN1):c.509A>G (p.Tyr170Cys) rs1228647846 0.00001
NM_000138.5(FBN1):c.5100T>C (p.Tyr1700=) rs2043293478 0.00001
NM_000138.5(FBN1):c.5103T>G (p.Ala1701=) rs1163353168 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.5190C>T (p.Asn1730=) rs765997414 0.00001
NM_000138.5(FBN1):c.5224+11G>A rs776454928 0.00001
NM_000138.5(FBN1):c.5224+4A>C rs765673140 0.00001
NM_000138.5(FBN1):c.5224+5G>T rs1434433558 0.00001
NM_000138.5(FBN1):c.5225-10A>T rs1485196202 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.5233G>A (p.Ala1745Thr) rs1217819225 0.00001
NM_000138.5(FBN1):c.5259A>G (p.Pro1753=) rs1227515373 0.00001
NM_000138.5(FBN1):c.5271C>T (p.Ile1757=) rs1291913287 0.00001
NM_000138.5(FBN1):c.5280T>C (p.Tyr1760=) rs730880103 0.00001
NM_000138.5(FBN1):c.5283C>T (p.Thr1761=) rs373887214 0.00001
NM_000138.5(FBN1):c.5284G>A (p.Gly1762Ser) rs387906623 0.00001
NM_000138.5(FBN1):c.5292C>T (p.Pro1764=) rs111756438 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.5307G>A (p.Glu1769=) rs368468320 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.5382A>G (p.Pro1794=) rs777460910 0.00001
NM_000138.5(FBN1):c.5413G>A (p.Val1805Ile) rs745636786 0.00001
NM_000138.5(FBN1):c.5423-15C>A rs1426894149 0.00001
NM_000138.5(FBN1):c.5423-18G>T rs1057521048 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.5443G>A (p.Gly1815Ser) rs745680336 0.00001
NM_000138.5(FBN1):c.5444G>A (p.Gly1815Asp) rs1339771077 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.5502C>G (p.Asp1834Glu) rs1566900494 0.00001
NM_000138.5(FBN1):c.5509C>T (p.Pro1837Ser) rs755430984 0.00001
NM_000138.5(FBN1):c.5510C>G (p.Pro1837Arg) rs752008146 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.5545+12C>T rs193922213 0.00001
NM_000138.5(FBN1):c.5545+15A>G rs908969671 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.5571C>A (p.Pro1857=) rs201551843 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.560T>A (p.Phe187Tyr) rs2044026755 0.00001
NM_000138.5(FBN1):c.5630A>G (p.His1877Arg) rs746473206 0.00001
NM_000138.5(FBN1):c.5649T>C (p.Asn1883=) rs1192296578 0.00001
NM_000138.5(FBN1):c.565G>T (p.Val189Leu) rs2044026712 0.00001
NM_000138.5(FBN1):c.5671+11_5671+13dup rs779987733 0.00001
NM_000138.5(FBN1):c.5674A>G (p.Ile1892Val) rs760170973 0.00001
NM_000138.5(FBN1):c.572G>T (p.Ser191Ile) rs771226686 0.00001
NM_000138.5(FBN1):c.5738A>G (p.Asn1913Ser) rs749606552 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.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+4C>T rs577301285 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.5816G>A (p.Gly1939Glu) rs752367915 0.00001
NM_000138.5(FBN1):c.5817G>A (p.Gly1939=) rs767097888 0.00001
NM_000138.5(FBN1):c.5852T>C (p.Val1951Ala) rs1270817532 0.00001
NM_000138.5(FBN1):c.5856G>A (p.Gly1952=) rs763490270 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.5917+11G>A rs780161708 0.00001
NM_000138.5(FBN1):c.5918-12T>G rs751115639 0.00001
NM_000138.5(FBN1):c.5925T>C (p.Asn1975=) rs1555395667 0.00001
NM_000138.5(FBN1):c.595C>G (p.Leu199Val) rs1221144366 0.00001
NM_000138.5(FBN1):c.5977G>A (p.Asp1993Asn) rs377671719 0.00001
NM_000138.5(FBN1):c.5989A>C (p.Arg1997=) rs2043139799 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.5995A>G (p.Ile1999Val) rs183690919 0.00001
NM_000138.5(FBN1):c.6001C>T (p.Pro2001Ser) rs921321822 0.00001
NM_000138.5(FBN1):c.6005C>T (p.Pro2002Leu) rs1566898093 0.00001
NM_000138.5(FBN1):c.600C>T (p.Ser200=) rs25389 0.00001
NM_000138.5(FBN1):c.6025G>A (p.Glu2009Lys) rs773204216 0.00001
NM_000138.5(FBN1):c.6038-13G>T rs536742402 0.00001
NM_000138.5(FBN1):c.6038-16C>T rs1264019912 0.00001
NM_000138.5(FBN1):c.6038-18C>T rs767567399 0.00001
NM_000138.5(FBN1):c.6041T>C (p.Ile2014Thr) rs776507208 0.00001
NM_000138.5(FBN1):c.6043G>A (p.Asp2015Asn) rs768457461 0.00001
NM_000138.5(FBN1):c.6075C>G (p.Ala2025=) rs1597529820 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.6111A>G (p.Lys2037=) rs200681876 0.00001
NM_000138.5(FBN1):c.6113G>A (p.Cys2038Tyr) rs363804 0.00001
NM_000138.5(FBN1):c.6144C>T (p.Ser2048=) rs1420515490 0.00001
NM_000138.5(FBN1):c.6147T>C (p.Ser2049=) rs553959381 0.00001
NM_000138.5(FBN1):c.6163+17G>C rs1019459140 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.6164-12T>C rs751798984 0.00001
NM_000138.5(FBN1):c.6164-5T>C rs2043085940 0.00001
NM_000138.5(FBN1):c.6170G>A (p.Arg2057Gln) rs181032147 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.620C>T (p.Thr207Met) rs202002133 0.00001
NM_000138.5(FBN1):c.6231T>C (p.Asn2077=) rs2043085335 0.00001
NM_000138.5(FBN1):c.6244G>C (p.Glu2082Gln) rs1052480459 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.6335C>G (p.Pro2112Arg) rs2043081607 0.00001
NM_000138.5(FBN1):c.6336T>C (p.Pro2112=) rs772876451 0.00001
NM_000138.5(FBN1):c.6349A>G (p.Ile2117Val) rs572754741 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.6380-20T>C rs772750580 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.6497-15C>T rs569535886 0.00001
NM_000138.5(FBN1):c.6499A>C (p.Thr2167Pro) rs373510719 0.00001
NM_000138.5(FBN1):c.6514G>A (p.Val2172Ile) rs1243025749 0.00001
NM_000138.5(FBN1):c.653G>A (p.Gly218Asp) rs775219277 0.00001
NM_000138.5(FBN1):c.6549T>C (p.Asn2183=) rs752192006 0.00001
NM_000138.5(FBN1):c.654C>G (p.Gly218=) rs375181377 0.00001
NM_000138.5(FBN1):c.6560G>A (p.Gly2187Asp) rs2043050989 0.00001
NM_000138.5(FBN1):c.6582G>T (p.Glu2194Asp) rs2043050683 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.6617-12C>T rs749132226 0.00001
NM_000138.5(FBN1):c.6643C>A (p.Leu2215Met) rs921997271 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.6725G>A (p.Arg2242His) rs773084230 0.00001
NM_000138.5(FBN1):c.6739+10C>T rs1179540326 0.00001
NM_000138.5(FBN1):c.6739+3G>A rs1263490954 0.00001
NM_000138.5(FBN1):c.6739+4A>G rs1355777954 0.00001
NM_000138.5(FBN1):c.6757G>T (p.Glu2253Ter) rs1245476075 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.6778G>A (p.Glu2260Lys) rs779702738 0.00001
NM_000138.5(FBN1):c.6783A>C (p.Lys2261Asn) rs771716423 0.00001
NM_000138.5(FBN1):c.6804C>T (p.Leu2268=) rs757817737 0.00001
NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr) rs193922228 0.00001
NM_000138.5(FBN1):c.6817A>G (p.Met2273Val) rs1186249894 0.00001
NM_000138.5(FBN1):c.6823A>G (p.Ile2275Val) rs2505419977 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.6871+8G>T rs191529671 0.00001
NM_000138.5(FBN1):c.6872-12A>G rs568325297 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.694C>T (p.Arg232Cys) rs1310736674 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.6994C>T (p.Leu2332Phe) rs747247971 0.00001
NM_000138.5(FBN1):c.6997+3G>A rs1270425478 0.00001
NM_000138.5(FBN1):c.6997+7A>G rs2042997177 0.00001
NM_000138.5(FBN1):c.6998-14A>C rs750002445 0.00001
NM_000138.5(FBN1):c.7000A>T (p.Asn2334Tyr) rs1214531793 0.00001
NM_000138.5(FBN1):c.7048A>G (p.Ile2350Val) rs794728263 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.7078A>C (p.Lys2360Gln) rs1176963033 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.7096G>A (p.Asp2366Asn) rs1259235311 0.00001
NM_000138.5(FBN1):c.7150G>A (p.Val2384Met) rs761205556 0.00001
NM_000138.5(FBN1):c.7171C>T (p.Pro2391Ser) rs371959082 0.00001
NM_000138.5(FBN1):c.7175A>G (p.His2392Arg) rs767941347 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.7198G>A (p.Gly2400Arg) rs2141228805 0.00001
NM_000138.5(FBN1):c.7201G>T (p.Ala2401Ser) rs771260695 0.00001
NM_000138.5(FBN1):c.7204+20A>G rs752123090 0.00001
NM_000138.5(FBN1):c.7205-12G>C rs2042976362 0.00001
NM_000138.5(FBN1):c.7209C>T (p.Ile2403=) rs767903343 0.00001
NM_000138.5(FBN1):c.7227T>A (p.Ile2409=) rs2042976009 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.7231G>A (p.Asp2411Asn) rs775558051 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.7275T>C (p.Tyr2425=) rs1456197586 0.00001
NM_000138.5(FBN1):c.7276C>T (p.His2426Tyr) rs372369490 0.00001
NM_000138.5(FBN1):c.7283T>C (p.Ile2428Thr) rs565474071 0.00001
NM_000138.5(FBN1):c.7317G>C (p.Gly2439=) rs766871786 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.7352C>T (p.Ala2451Val) rs1414627199 0.00001
NM_000138.5(FBN1):c.736+10G>T rs1183919688 0.00001
NM_000138.5(FBN1):c.736+17G>A rs540588651 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.7395T>C (p.Ser2465=) rs774341590 0.00001
NM_000138.5(FBN1):c.7413G>A (p.Pro2471=) rs769588855 0.00001
NM_000138.5(FBN1):c.7453+15A>G rs1188383803 0.00001
NM_000138.5(FBN1):c.7484A>G (p.Asn2495Ser) rs1252037822 0.00001
NM_000138.5(FBN1):c.748T>C (p.Cys250Arg) rs2043996090 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.7530A>G (p.Lys2510=) rs754992689 0.00001
NM_000138.5(FBN1):c.7539C>T (p.Pro2513=) rs144713268 0.00001
NM_000138.5(FBN1):c.7547C>T (p.Thr2516Ile) rs2042946390 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.7571-5C>G rs1232021292 0.00001
NM_000138.5(FBN1):c.7571-7C>A rs1229246967 0.00001
NM_000138.5(FBN1):c.7578T>C (p.Asn2526=) rs1469455764 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.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.7727G>A (p.Arg2576His) rs369888822 0.00001
NM_000138.5(FBN1):c.7749C>T (p.Asn2583=) rs374951628 0.00001
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054 0.00001
NM_000138.5(FBN1):c.7764C>T (p.Tyr2588=) rs927103213 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.7788C>T (p.Tyr2596=) rs1555394142 0.00001
NM_000138.5(FBN1):c.7819+9C>T rs971180549 0.00001
NM_000138.5(FBN1):c.7820-10T>C rs1472893191 0.00001
NM_000138.5(FBN1):c.7827C>T (p.Asn2609=) rs764741627 0.00001
NM_000138.5(FBN1):c.7834C>T (p.Leu2612Phe) rs915358842 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.7851C>T (p.Cys2617=) rs147019323 0.00001
NM_000138.5(FBN1):c.7856G>A (p.Gly2619Glu) rs113926846 0.00001
NM_000138.5(FBN1):c.7872C>T (p.Asn2624=) rs539185798 0.00001
NM_000138.5(FBN1):c.7875C>T (p.Thr2625=) rs1344417150 0.00001
NM_000138.5(FBN1):c.7881G>A (p.Gly2627=) rs397515858 0.00001
NM_000138.5(FBN1):c.7893C>T (p.Cys2631=) rs2042898552 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.7970C>T (p.Ala2657Val) rs546452543 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.8037C>T (p.Phe2679=) rs770541711 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.8052-13C>T rs572235795 0.00001
NM_000138.5(FBN1):c.8052-20A>G rs939834412 0.00001
NM_000138.5(FBN1):c.8098C>T (p.Pro2700Ser) rs757331255 0.00001
NM_000138.5(FBN1):c.8107G>A (p.Gly2703Ser) rs764120982 0.00001
NM_000138.5(FBN1):c.8123A>G (p.Asn2708Ser) rs759494825 0.00001
NM_000138.5(FBN1):c.8140G>T (p.Ala2714Ser) rs766170041 0.00001
NM_000138.5(FBN1):c.814A>C (p.Lys272Gln) rs762276905 0.00001
NM_000138.5(FBN1):c.816A>G (p.Lys272=) rs1191508155 0.00001
NM_000138.5(FBN1):c.8177G>A (p.Arg2726Gln) rs552157433 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.8200A>G (p.Asn2734Asp) rs757532651 0.00001
NM_000138.5(FBN1):c.8218A>G (p.Asn2740Asp) rs397515860 0.00001
NM_000138.5(FBN1):c.821C>A (p.Pro274His) rs1085307537 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.8241A>G (p.Thr2747=) rs1460136746 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.827G>T (p.Gly276Val) rs534859193 0.00001
NM_000138.5(FBN1):c.8295T>A (p.Ala2765=) rs1417594908 0.00001
NM_000138.5(FBN1):c.8299A>G (p.Asn2767Asp) rs771437236 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.8327G>A (p.Arg2776Gln) rs748327743 0.00001
NM_000138.5(FBN1):c.8331C>G (p.Ile2777Met) rs1427984176 0.00001
NM_000138.5(FBN1):c.8332C>T (p.Leu2778=) rs1448317732 0.00001
NM_000138.5(FBN1):c.835C>G (p.Leu279Val) rs1210630009 0.00001
NM_000138.5(FBN1):c.8361G>C (p.Leu2787=) rs2042860148 0.00001
NM_000138.5(FBN1):c.8364G>A (p.Thr2788=) rs112945086 0.00001
NM_000138.5(FBN1):c.8401G>C (p.Asp2801His) rs868087455 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.8461A>C (p.Lys2821Gln) rs794728286 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.8496T>C (p.Ser2832=) rs1216871823 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.8533C>G (p.Leu2845Val) rs767060377 0.00001
NM_000138.5(FBN1):c.8537A>G (p.Glu2846Gly) rs754570125 0.00001
NM_000138.5(FBN1):c.8543A>C (p.Lys2848Thr) rs765839151 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.8582A>T (p.Asn2861Ile) rs747213800 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.862+3A>G rs1555401453 0.00001
NM_000138.5(FBN1):c.863-7A>G rs771131700 0.00001
NM_000138.5(FBN1):c.863A>G (p.Asp288Gly) rs565078451 0.00001
NM_000138.5(FBN1):c.868G>T (p.Asp290Tyr) rs1429410032 0.00001
NM_000138.5(FBN1):c.872A>T (p.Glu291Val) rs2505641081 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.928A>C (p.Ser310Arg) rs1215867426 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.968C>T (p.Pro323Leu) rs1183175645 0.00001
NM_000138.5(FBN1):c.969A>G (p.Pro323=) rs759743242 0.00001
NM_000138.5(FBN1):c.974G>C (p.Gly325Ala) rs768514422 0.00001
NM_000138.5(FBN1):c.987A>G (p.Ile329Met) rs1289726476 0.00001
NM_000138.5(FBN1):c.988+13A>G rs965027795 0.00001
NM_000138.5(FBN1):c.988+16A>G rs780202250 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
GRCh37/hg19 15q21.1(chr15:48703187-48714265)
GRCh37/hg19 15q21.1(chr15:48703187-48766574)
GRCh37/hg19 15q21.1(chr15:48703187-48937906)
GRCh37/hg19 15q21.1(chr15:48707733-48758055)
GRCh37/hg19 15q21.1(chr15:48720543-48730114)
GRCh37/hg19 15q21.1(chr15:48722868-48726910)
GRCh37/hg19 15q21.1(chr15:48725063-48784783)
GRCh37/hg19 15q21.1(chr15:48725063-48892431)
GRCh37/hg19 15q21.1(chr15:48736739-48736857)
GRCh37/hg19 15q21.1(chr15:48777571-48791235)
GRCh37/hg19 15q21.1(chr15:48782048-48782275)
GRCh37/hg19 15q21.1(chr15:48789463-48791235)
GRCh37/hg19 15q21.1(chr15:48902925-48937906)
NC_000015.10:g.(48494255_48495122)_(48499039_48503786)del
NC_000015.10:g.(?_48410970)_(48412763_?)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.(?_48470634)_(48470756_?)del
NC_000015.10:g.(?_48492451)_(48492596_?)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.(?_48508572)_(48510179_?)del
NC_000015.10:g.(?_48596273)_(48613102_?)del
NC_000015.10:g.(?_48596273)_(48613102_?)dup
NC_000015.10:g.(?_48610708)_(48613112_?)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.48448846_48448847dup rs886043709
NC_000015.10:g.48452636_48452637delinsAT rs1555396205
NC_000015.10:g.48465689delinsTG rs1555397007
NC_000015.10:g.48494240_48494250delinsGGTAAA rs1555399095
NC_000015.10:g.48495534_48495537delinsTTTATT rs1566911724
NC_000015.10:g.48610805_48610806delinsG rs397515778
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.(?_48812846)_(48905299_?)dup
NC_000015.9:g.(?_48826257)_(48826422_?)dup
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
NC_000015.9:g.48703187_48748959del45773
NG_008805.2:g.(135403_137120)_(206249_208942)del
NM_000138.3:c.(5065+1_5066-1)_(5545+1_5546-1)del
NM_000138.4(FBN1):c.(?_4473)_(8280_?)del
NM_000138.4(FBN1):c.(?_5475)_(5542_?)del
NM_000138.4(FBN1):c.-371T>C rs886051257
NM_000138.4(FBN1):c.-389_-388TC[1] rs886051258
NM_000138.4(FBN1):c.-400A>T rs1890299170
NM_000138.4(FBN1):c.1888_1889delinsC (p.Asn630fs) rs1060501058
NM_000138.4(FBN1):c.305_306delinsAA (p.Cys102Ter) rs1555405530
NM_000138.4(FBN1):c.3232_3236delinsATCTC (p.Pro1078_Asp1079delinsIleSer) rs1555398643
NM_000138.4(FBN1):c.3465_3466delinsAAG (p.Asp1155fs) rs1555398527
NM_000138.4(FBN1):c.5225_5249del rs1555396635
NM_000138.4(FBN1):c.5225_5296del rs1566902526
NM_000138.4(FBN1):c.5362_5364delinsGACT (p.Ser1788fs) rs1566901605
NM_000138.4(FBN1):c.5423-?_*2684+?del
NM_000138.4(FBN1):c.6038_6163del rs1566897376
NM_000138.4(FBN1):c.6497_6616del rs1566895223
NM_000138.4(FBN1):c.6740_6871del rs1566894226
NM_000138.4(FBN1):c.7930delGins34 (p.?)
NM_000138.4(FBN1):c.8051delinsTT (p.Gly2684fs) rs1555393824
NM_000138.5(FBN1):c.*1007G>T rs886051236
NM_000138.5(FBN1):c.*107A>G rs562749473
NM_000138.5(FBN1):c.*1122C>T rs2042846511
NM_000138.5(FBN1):c.*1396C>T rs886051235
NM_000138.5(FBN1):c.*1477C>A rs886051233
NM_000138.5(FBN1):c.*1562G>T rs78442438
NM_000138.5(FBN1):c.*1635C>A rs886051232
NM_000138.5(FBN1):c.*1733A>G rs886051230
NM_000138.5(FBN1):c.*1943G>T rs886051229
NM_000138.5(FBN1):c.*1950dup rs535798341
NM_000138.5(FBN1):c.*2078G>T rs886051228
NM_000138.5(FBN1):c.*2114T>A rs886051227
NM_000138.5(FBN1):c.*2260C>A rs886051225
NM_000138.5(FBN1):c.*2421C>A rs886051224
NM_000138.5(FBN1):c.*2443G>T rs886051223
NM_000138.5(FBN1):c.*2533C>A rs886051222
NM_000138.5(FBN1):c.*2578C>T rs761025257
NM_000138.5(FBN1):c.*2594G>T rs886051220
NM_000138.5(FBN1):c.*2638T>C rs886051219
NM_000138.5(FBN1):c.*268G>C rs886051242
NM_000138.5(FBN1):c.*325T>C rs537909430
NM_000138.5(FBN1):c.*399C>A rs2042852375
NM_000138.5(FBN1):c.*406G>T rs886051240
NM_000138.5(FBN1):c.*724A>C rs886051239
NM_000138.5(FBN1):c.*938G>T rs886051238
NM_000138.5(FBN1):c.*948G>T rs749224599
NM_000138.5(FBN1):c.*960del rs527621676
NM_000138.5(FBN1):c.*967C>T rs56024388
NM_000138.5(FBN1):c.*987C>T rs886051237
NM_000138.5(FBN1):c.-182+1G>A
NM_000138.5(FBN1):c.-35C>T rs199781948
NM_000138.5(FBN1):c.-7_-6dup rs1890264079
NM_000138.5(FBN1):c.109A>T (p.Thr37Ser) rs1890260265
NM_000138.5(FBN1):c.10G>A (p.Gly4Arg) rs1890263469
NM_000138.5(FBN1):c.10G>T (p.Gly4Trp) rs1890263469
NM_000138.5(FBN1):c.110C>G (p.Thr37Ser)
NM_000138.5(FBN1):c.112A>G (p.Arg38Gly) rs1355716557
NM_000138.5(FBN1):c.112A>T (p.Arg38Ter) rs1355716557
NM_000138.5(FBN1):c.1148-13T>A
NM_000138.5(FBN1):c.1148-16T>C rs1334153536
NM_000138.5(FBN1):c.1148-16del rs2505620110
NM_000138.5(FBN1):c.1148-2A>G rs397515756
NM_000138.5(FBN1):c.1148-6T>C rs1293665253
NM_000138.5(FBN1):c.1148-8T>G
NM_000138.5(FBN1):c.1149G>A (p.Glu383=) rs2505620028
NM_000138.5(FBN1):c.114del (p.Ala39fs) rs2505821967
NM_000138.5(FBN1):c.1155C>T (p.Phe385=) rs2505620006
NM_000138.5(FBN1):c.1155_1165del (p.Phe385fs) rs2505619972
NM_000138.5(FBN1):c.1156A>C (p.Asn386His) rs1597581597
NM_000138.5(FBN1):c.1156_1167del (p.Asn386_Cys389del) rs672601352
NM_000138.5(FBN1):c.1158C>G (p.Asn386Lys) rs368737502
NM_000138.5(FBN1):c.1160del (p.Lys387fs) rs2505619986
NM_000138.5(FBN1):c.1164G>T (p.Leu388=) rs950721952
NM_000138.5(FBN1):c.1165dup (p.Cys389fs) rs2505619970
NM_000138.5(FBN1):c.1167C>A (p.Cys389Ter) rs746201757
NM_000138.5(FBN1):c.1168T>C (p.Ser390Pro) rs779113310
NM_000138.5(FBN1):c.116C>A (p.Ala39Asp) rs2505821956
NM_000138.5(FBN1):c.116C>G (p.Ala39Gly) rs2505821956
NM_000138.5(FBN1):c.1174C>A (p.Pro392Thr) rs749467972
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) rs2043801666
NM_000138.5(FBN1):c.1185dup (p.Pro396fs) rs2043801575
NM_000138.5(FBN1):c.1186C>A (p.Pro396Thr)
NM_000138.5(FBN1):c.1188_1206del (p.Gly397fs) rs2505619774
NM_000138.5(FBN1):c.1192A>T (p.Arg398Ter) rs397515754
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.1200del (p.Glu400fs) rs2505619800
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.1211del (p.Pro404fs) rs112289537
NM_000138.5(FBN1):c.1214C>T (p.Pro405Leu)
NM_000138.5(FBN1):c.1216C>A (p.Leu406Ile) rs1257581073
NM_000138.5(FBN1):c.1216del (p.Gly407fs) rs2141331057
NM_000138.5(FBN1):c.121C>G (p.Arg41Gly) rs1158441291
NM_000138.5(FBN1):c.1220del (p.Gly407fs) rs2505619713
NM_000138.5(FBN1):c.1222C>T (p.Pro408Ser) rs2505619691
NM_000138.5(FBN1):c.1226T>G (p.Ile409Ser) rs2505619678
NM_000138.5(FBN1):c.1229C>T (p.Pro410Leu)
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.1235T>A (p.Val412Asp) rs764925097
NM_000138.5(FBN1):c.1239C>T (p.Leu413=) rs1308682011
NM_000138.5(FBN1):c.1245del (p.Pro416fs) rs2141331000
NM_000138.5(FBN1):c.124del (p.Ala42fs) rs1555407414
NM_000138.5(FBN1):c.1266A>T (p.Gly422=) rs2141330973
NM_000138.5(FBN1):c.1268C>G (p.Pro423Arg) rs1298538974
NM_000138.5(FBN1):c.1268C>T (p.Pro423Leu)
NM_000138.5(FBN1):c.126del (p.Lys43fs) rs1566944839
NM_000138.5(FBN1):c.1270C>A (p.Gln424Lys) rs1439533354
NM_000138.5(FBN1):c.1270C>T (p.Gln424Ter) rs1439533354
NM_000138.5(FBN1):c.1273A>G (p.Ile425Val) rs2505619502
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) rs368089138
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.1299dup (p.Tyr434fs) rs2141330877
NM_000138.5(FBN1):c.12G>A (p.Gly4=)
NM_000138.5(FBN1):c.12G>T (p.Gly4=) rs1890263419
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.1305G>T (p.Leu435=) rs769895864
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.1315C>T (p.Arg439Trp) rs1195398902
NM_000138.5(FBN1):c.1318G>T (p.Glu440Ter) rs1555400406
NM_000138.5(FBN1):c.131G>A (p.Arg44Lys) rs1890259213
NM_000138.5(FBN1):c.1321C>A (p.Pro441Thr) rs900969558
NM_000138.5(FBN1):c.1322C>T (p.Pro441Leu) rs2505619272
NM_000138.5(FBN1):c.1327+18A>T
NM_000138.5(FBN1):c.1327+4A>G
NM_000138.5(FBN1):c.1328-15T>G rs2043793958
NM_000138.5(FBN1):c.1328-1G>T
NM_000138.5(FBN1):c.1328-2A>G
NM_000138.5(FBN1):c.132A>T (p.Arg44Ser) rs1890259134
NM_000138.5(FBN1):c.1333C>T (p.Leu445=) rs2505617838
NM_000138.5(FBN1):c.1335G>T (p.Leu445=) rs2505617824
NM_000138.5(FBN1):c.1335dup (p.Pro446fs) rs730880356
NM_000138.5(FBN1):c.1338del (p.Pro446_Val447insTer) rs2505617813
NM_000138.5(FBN1):c.135A>G (p.Arg45=) rs2140787554
NM_000138.5(FBN1):c.1360C>T (p.Gln454Ter) rs1555400387
NM_000138.5(FBN1):c.1366G>A (p.Val456Ile)
NM_000138.5(FBN1):c.1368C>G (p.Val456=) rs1433264110
NM_000138.5(FBN1):c.1369C>T (p.Arg457Cys) rs2141330047
NM_000138.5(FBN1):c.1374T>C (p.Tyr458=)
NM_000138.5(FBN1):c.1378T>A (p.Cys460Ser) rs1597581005
NM_000138.5(FBN1):c.1379G>A (p.Cys460Tyr) rs1597581001
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.1391del (p.Arg464fs) rs1555400385
NM_000138.5(FBN1):c.1397T>C (p.Ile466Thr) rs1409489395
NM_000138.5(FBN1):c.139G>T (p.Gly47Cys) rs762400500
NM_000138.5(FBN1):c.1400dup (p.Thr468fs) rs1597580984
NM_000138.5(FBN1):c.1402A>G (p.Thr468Ala) rs2043792730
NM_000138.5(FBN1):c.1403C>T (p.Thr468Ile)
NM_000138.5(FBN1):c.140G>A (p.Gly47Asp) rs2505821841
NM_000138.5(FBN1):c.1410del (p.Ser471fs) rs1555400383
NM_000138.5(FBN1):c.1411A>T (p.Ser471Cys)
NM_000138.5(FBN1):c.1415= (p.Tyr472=) rs113936729
NM_000138.5(FBN1):c.1420T>G (p.Cys474Gly) rs1555400380
NM_000138.5(FBN1):c.1421G>A (p.Cys474Tyr) rs794728166
NM_000138.5(FBN1):c.1421G>T (p.Cys474Phe) rs794728166
NM_000138.5(FBN1):c.1422del (p.Cys474fs) rs1555400379
NM_000138.5(FBN1):c.1426T>A (p.Cys476Ser)
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) rs2505617492
NM_000138.5(FBN1):c.1436G>A (p.Gly479Glu) rs1247260475
NM_000138.5(FBN1):c.143G>A (p.Gly48Glu) rs1317580009
NM_000138.5(FBN1):c.143dup (p.Gly49fs)
NM_000138.5(FBN1):c.1443dup (p.Leu482fs) rs2505617436
NM_000138.5(FBN1):c.1448A>C (p.Asp483Ala) rs2505617428
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=) rs368637894
NM_000138.5(FBN1):c.1462T>C (p.Cys488Arg) rs1555400373
NM_000138.5(FBN1):c.1462T>G (p.Cys488Gly) rs1555400373
NM_000138.5(FBN1):c.1463G>A (p.Cys488Tyr) rs1555400372
NM_000138.5(FBN1):c.1463G>T (p.Cys488Phe) rs1555400372
NM_000138.5(FBN1):c.1464dup (p.Ile489fs) rs1566916671
NM_000138.5(FBN1):c.1468+12A>T rs2505617295
NM_000138.5(FBN1):c.1468+15C>T rs762023380
NM_000138.5(FBN1):c.1468+1G>A rs2141329822
NM_000138.5(FBN1):c.1468+1G>C rs2141329822
NM_000138.5(FBN1):c.1468+1G>T rs2141329822
NM_000138.5(FBN1):c.1468+20T>C
NM_000138.5(FBN1):c.1468+24C>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+4C>A rs765579667
NM_000138.5(FBN1):c.1468+5G>A rs397515757
NM_000138.5(FBN1):c.1468+5del rs2536671738
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 rs751082212
NM_000138.5(FBN1):c.1469-14A>T rs2043779369
NM_000138.5(FBN1):c.1469-15C>T
NM_000138.5(FBN1):c.1469-244T>G
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 rs2505614201
NM_000138.5(FBN1):c.1469-8C>T
NM_000138.5(FBN1):c.146G>C (p.Gly49Ala) rs1382204819
NM_000138.5(FBN1):c.146G>T (p.Gly49Val) rs1382204819
NM_000138.5(FBN1):c.1471del (p.Val491fs)
NM_000138.5(FBN1):c.1472T>C (p.Val491Ala) rs2043779139
NM_000138.5(FBN1):c.1474G>A (p.Asp492Asn) rs2505614146
NM_000138.5(FBN1):c.1479del (p.Glu493fs) rs2505614119
NM_000138.5(FBN1):c.1480T>C (p.Cys494Arg) rs2505614110
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) rs2505614094
NM_000138.5(FBN1):c.1485dup (p.Lys496fs) rs2505614091
NM_000138.5(FBN1):c.1486A>G (p.Lys496Glu) rs2505614081
NM_000138.5(FBN1):c.1490del (p.Asn497fs) rs2505614061
NM_000138.5(FBN1):c.1491C>G (p.Asn497Lys) rs1364476987
NM_000138.5(FBN1):c.1494del (p.Cys499fs) rs34919986
NM_000138.5(FBN1):c.1495T>A (p.Cys499Ser) rs2043778680
NM_000138.5(FBN1):c.1495T>C (p.Cys499Arg) rs2043778680
NM_000138.5(FBN1):c.1495T>G (p.Cys499Gly) rs2043778680
NM_000138.5(FBN1):c.1496G>A (p.Cys499Tyr) rs587782944
NM_000138.5(FBN1):c.1496G>T (p.Cys499Phe)
NM_000138.5(FBN1):c.1498G>C (p.Ala500Pro) rs886044236
NM_000138.5(FBN1):c.1501G>T (p.Gly501Cys)
NM_000138.5(FBN1):c.1502G>T (p.Gly501Val) rs1461938183
NM_000138.5(FBN1):c.1504G>C (p.Gly502Arg) rs762111810
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.1511G>A (p.Cys504Tyr) rs1156747241
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.1518C>T (p.Asn506=)
NM_000138.5(FBN1):c.151G>A (p.Asp51Asn) rs2140787467
NM_000138.5(FBN1):c.1520del (p.Asn507fs) rs2505613882
NM_000138.5(FBN1):c.1522C>T (p.Gln508Ter) rs1057521859
NM_000138.5(FBN1):c.1523_1525del (p.Gln508_Gly509delinsArg) rs2505613851
NM_000138.5(FBN1):c.1524G>A (p.Gln508=) rs1566916256
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) rs2141327790
NM_000138.5(FBN1):c.1526del (p.Gly509fs) rs2505613838
NM_000138.5(FBN1):c.1530G>A (p.Ser510=) rs147511977
NM_000138.5(FBN1):c.1530G>C (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>C (p.Gln514His)
NM_000138.5(FBN1):c.1543T>G (p.Cys515Gly)
NM_000138.5(FBN1):c.1546C>T (p.Arg516Ter) rs113812345
NM_000138.5(FBN1):c.1552G>A (p.Gly518Arg) rs794728168
NM_000138.5(FBN1):c.1552G>T (p.Gly518Ter) rs794728168
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.1558C>T (p.Gln520Ter) rs1597579923
NM_000138.5(FBN1):c.155_156delinsTT (p.Ala52Val) rs2140787437
NM_000138.5(FBN1):c.1560G>A (p.Gln520=) rs143253318
NM_000138.5(FBN1):c.1561_1562del (p.Ser521fs) rs397515758
NM_000138.5(FBN1):c.1566A>T (p.Thr522=) rs531264662
NM_000138.5(FBN1):c.156G>A (p.Ala52=) rs25398
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.1575del (p.Thr526fs) rs1555400268
NM_000138.5(FBN1):c.1576del (p.Thr526fs) rs2505613485
NM_000138.5(FBN1):c.1579G>T (p.Glu527Ter) rs1555400267
NM_000138.5(FBN1):c.1582T>A (p.Cys528Ser) rs2505613470
NM_000138.5(FBN1):c.1584C>A (p.Cys528Ter) rs2505613456
NM_000138.5(FBN1):c.1585C>A (p.Arg529=)
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+1G>A rs2141327634
NM_000138.5(FBN1):c.1588+20C>A rs376488308
NM_000138.5(FBN1):c.1588+20C>G rs376488308
NM_000138.5(FBN1):c.1588+9C>G rs757843637
NM_000138.5(FBN1):c.1588G>T (p.Asp530Tyr)
NM_000138.5(FBN1):c.1589-1217G>T rs1342142271
NM_000138.5(FBN1):c.1589-12C>G rs746652337
NM_000138.5(FBN1):c.1589-12C>T
NM_000138.5(FBN1):c.1589-13A>G rs2505606477
NM_000138.5(FBN1):c.1589-14A>G rs1566915335
NM_000138.5(FBN1):c.1589-1G>A rs1555400077
NM_000138.5(FBN1):c.1589-1G>C rs1555400077
NM_000138.5(FBN1):c.1589-20T>G rs916810794
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) rs794728171
NM_000138.5(FBN1):c.1592T>G (p.Ile531Ser) rs2505606404
NM_000138.5(FBN1):c.1595A>G (p.Asp532Gly) rs745422205
NM_000138.5(FBN1):c.1597G>T (p.Glu533Ter) rs2505606383
NM_000138.5(FBN1):c.1600T>G (p.Cys534Gly) rs2505606374
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) rs1485432119
NM_000138.5(FBN1):c.1604T>C (p.Leu535Ser) rs754364317
NM_000138.5(FBN1):c.1604del (p.Leu535fs)
NM_000138.5(FBN1):c.1606C>T (p.Gln536Ter) rs1479709398
NM_000138.5(FBN1):c.160A>C (p.Lys54Gln) rs2505821721
NM_000138.5(FBN1):c.1614C>T (p.Gly538=) rs2141323481
NM_000138.5(FBN1):c.1617del (p.Ile540fs) rs1555400066
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.1622G>T (p.Cys541Phe) 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.162A>G (p.Lys54=) rs777116853
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.1634G>C (p.Arg545Pro) rs193922179
NM_000138.5(FBN1):c.1636T>C (p.Cys546Arg) rs1555400062
NM_000138.5(FBN1):c.1636T>G (p.Cys546Gly)
NM_000138.5(FBN1):c.1637G>A (p.Cys546Tyr) rs112644647
NM_000138.5(FBN1):c.1638C>A (p.Cys546Ter) rs2141323411
NM_000138.5(FBN1):c.164+13G>T rs775706966
NM_000138.5(FBN1):c.164+16C>T rs2505821610
NM_000138.5(FBN1):c.164+1G>A rs794728213
NM_000138.5(FBN1):c.164+1G>T rs794728213
NM_000138.5(FBN1):c.164+1del rs1555407399
NM_000138.5(FBN1):c.164+2T>C rs727503058
NM_000138.5(FBN1):c.164+3A>C rs1597652265
NM_000138.5(FBN1):c.164+3A>G rs1597652265
NM_000138.5(FBN1):c.164+96C>T
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.1641C>G (p.Ile547Met) rs2141323402
NM_000138.5(FBN1):c.1643A>T (p.Asn548Ile) rs137854462
NM_000138.5(FBN1):c.1646_1649delinsGT (p.Thr549fs) rs1597577975
NM_000138.5(FBN1):c.164G>A (p.Gly55Glu) rs2140787387
NM_000138.5(FBN1):c.164G>C (p.Gly55Ala) rs2140787387
NM_000138.5(FBN1):c.165-11T>G
NM_000138.5(FBN1):c.165-14T>A rs2505779375
NM_000138.5(FBN1):c.165-1G>A
NM_000138.5(FBN1):c.165-1G>C rs2505779337
NM_000138.5(FBN1):c.165-1G>T
NM_000138.5(FBN1):c.165-2A>C rs754351718
NM_000138.5(FBN1):c.165-32del rs193922180
NM_000138.5(FBN1):c.165-3del rs1436066063
NM_000138.5(FBN1):c.165-46CTT[2] rs386134232
NM_000138.5(FBN1):c.165-8T>G rs750029122
NM_000138.5(FBN1):c.1652G>A (p.Gly551Asp)
NM_000138.5(FBN1):c.1657T>A (p.Phe553Ile) rs2043746162
NM_000138.5(FBN1):c.1657T>G (p.Phe553Val) rs2043746162
NM_000138.5(FBN1):c.1659del (p.His554fs) rs1566915277
NM_000138.5(FBN1):c.1661A>C (p.His554Pro) rs2505606130
NM_000138.5(FBN1):c.1662T>C (p.His554=) rs2505606124
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.1666del (p.Val556fs)
NM_000138.5(FBN1):c.1667_1677del (p.Val556fs) rs2505606046
NM_000138.5(FBN1):c.1668G>C (p.Val556=)
NM_000138.5(FBN1):c.1669T>C (p.Cys557Arg) rs2141323348
NM_000138.5(FBN1):c.1669_1677dup (p.Cys557_Ala559dup) rs193922181
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.1677G>A (p.Ala559=) rs1403102093
NM_000138.5(FBN1):c.1677_1678insAT (p.Gly560fs) rs2505606028
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>C (p.Gly560Ala)
NM_000138.5(FBN1):c.1679G>T (p.Gly560Val) rs1555400052
NM_000138.5(FBN1):c.168dup (p.Asn57fs) rs2505779321
NM_000138.5(FBN1):c.1690dup (p.Thr564fs) rs2505605998
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.1709del (p.Cys570fs) rs193922182
NM_000138.5(FBN1):c.170A>G (p.Asn57Ser) rs2044669666
NM_000138.5(FBN1):c.170A>T (p.Asn57Ile)
NM_000138.5(FBN1):c.1710T>G (p.Cys570Trp) rs193922183
NM_000138.5(FBN1):c.1713A>G (p.Glu571=) rs2043745450
NM_000138.5(FBN1):c.1714+11T>C rs2505605868
NM_000138.5(FBN1):c.1714+14A>G rs2505605858
NM_000138.5(FBN1):c.1714+16T>G
NM_000138.5(FBN1):c.1714+1G>T rs2043745437
NM_000138.5(FBN1):c.1714+2T>C rs2141323212
NM_000138.5(FBN1):c.1714+2del rs876657645
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 rs1200604716
NM_000138.5(FBN1):c.1714G>A (p.Asp572Asn) rs2141323230
NM_000138.5(FBN1):c.1715-10G>A rs764128146
NM_000138.5(FBN1):c.1715-10G>T rs764128146
NM_000138.5(FBN1):c.1715-15G>A rs2505602895
NM_000138.5(FBN1):c.1715-1G>A rs1555399977
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 rs1057520813
NM_000138.5(FBN1):c.1715A>G (p.Asp572Gly) rs1555399976
NM_000138.5(FBN1):c.1715A>T (p.Asp572Val) rs1555399976
NM_000138.5(FBN1):c.1717A>G (p.Met573Val) rs1338923661
NM_000138.5(FBN1):c.1718T>C (p.Met573Thr) rs2141321700
NM_000138.5(FBN1):c.1719G>A (p.Met573Ile)
NM_000138.5(FBN1):c.1720del (p.Asp574fs) rs2141321697
NM_000138.5(FBN1):c.1721A>G (p.Asp574Gly) rs1566914907
NM_000138.5(FBN1):c.1723G>A (p.Glu575Lys) rs1259811604
NM_000138.5(FBN1):c.1726T>A (p.Cys576Ser) rs794728174
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.1733T>G (p.Ile578Arg) rs886831673
NM_000138.5(FBN1):c.1737del (p.Asn580fs) rs2505602749
NM_000138.5(FBN1):c.1741A>G (p.Met581Val) rs2505602697
NM_000138.5(FBN1):c.1743G>A (p.Met581Ile) rs1566914894
NM_000138.5(FBN1):c.1744T>C (p.Cys582Arg) rs2141321636
NM_000138.5(FBN1):c.1744T>G (p.Cys582Gly) rs2141321636
NM_000138.5(FBN1):c.1744_1745del (p.Cys582fs) rs869025420
NM_000138.5(FBN1):c.1745G>A (p.Cys582Tyr) rs2141321627
NM_000138.5(FBN1):c.1752T>A (p.Asn584Lys) rs2505602640
NM_000138.5(FBN1):c.1753G>A (p.Gly585Arg) rs1085307528
NM_000138.5(FBN1):c.1754G>A (p.Gly585Glu) rs1060501041
NM_000138.5(FBN1):c.1754G>C (p.Gly585Ala) rs1060501041
NM_000138.5(FBN1):c.1759T>C (p.Cys587Arg) rs1555399968
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.1760G>A (p.Cys587Tyr) rs1555399963
NM_000138.5(FBN1):c.1761T>G (p.Cys587Trp) rs1060504143
NM_000138.5(FBN1):c.1766A>G (p.Asn589Ser) rs1555399962
NM_000138.5(FBN1):c.176G>A (p.Cys59Tyr) rs1555405673
NM_000138.5(FBN1):c.176G>T (p.Cys59Phe) rs1555405673
NM_000138.5(FBN1):c.176del (p.Cys59fs) rs1597633219
NM_000138.5(FBN1):c.1773T>A (p.Asp591Glu) rs1024814395
NM_000138.5(FBN1):c.1775G>A (p.Gly592Asp) rs1555399959
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=) rs1039378376
NM_000138.5(FBN1):c.1792T>C (p.Cys598Arg) rs2141321553
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>A (p.Cys598Tyr) rs1555399955
NM_000138.5(FBN1):c.1793G>C (p.Cys598Ser) rs1555399955
NM_000138.5(FBN1):c.1793G>T (p.Cys598Phe) rs1555399955
NM_000138.5(FBN1):c.1794C>G (p.Cys598Trp) rs1555399954
NM_000138.5(FBN1):c.1798C>T (p.Pro600Ser) rs1317889409
NM_000138.5(FBN1):c.179G>A (p.Gly60Glu) rs139788702
NM_000138.5(FBN1):c.179G>T (p.Gly60Val)
NM_000138.5(FBN1):c.1801G>T (p.Gly601Ter) rs1555399953
NM_000138.5(FBN1):c.1803A>G (p.Gly601=) rs2043731963
NM_000138.5(FBN1):c.1805T>C (p.Phe602Ser) rs1555399952
NM_000138.5(FBN1):c.1805T>G (p.Phe602Cys) rs1555399952
NM_000138.5(FBN1):c.1807C>T (p.Gln603Ter) rs886038963
NM_000138.5(FBN1):c.1808A>C (p.Gln603Pro)
NM_000138.5(FBN1):c.1809del (p.Gln603fs) rs2505602394
NM_000138.5(FBN1):c.1813G>T (p.Ala605Ser) rs1159345180
NM_000138.5(FBN1):c.1815A>G (p.Ala605=) rs2141321499
NM_000138.5(FBN1):c.1817C>A (p.Ser606Ter) rs794728176
NM_000138.5(FBN1):c.1817C>G (p.Ser606Ter) rs794728176
NM_000138.5(FBN1):c.1822G>T (p.Gly608Ter) rs2505602361
NM_000138.5(FBN1):c.1823G>A (p.Gly608Glu) rs368283028
NM_000138.5(FBN1):c.1823del (p.Gly608fs) rs1555399949
NM_000138.5(FBN1):c.182C>G (p.Ser61Ter) rs2505779274
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.1832G>A (p.Cys611Tyr) rs2505602326
NM_000138.5(FBN1):c.1835A>G (p.Lys612Arg) rs1374717312
NM_000138.5(FBN1):c.1836_1837+2delinsGGG rs2043731288
NM_000138.5(FBN1):c.1837+1G>A rs397515762
NM_000138.5(FBN1):c.1837+1G>T rs397515762
NM_000138.5(FBN1):c.1837+2T>C rs1555399940
NM_000138.5(FBN1):c.1837+5G>A rs1445085747
NM_000138.5(FBN1):c.1837+5G>C
NM_000138.5(FBN1):c.1837G>A (p.Asp613Asn) rs1555399943
NM_000138.5(FBN1):c.1838-17G>A rs762500537
NM_000138.5(FBN1):c.1838-1G>A rs1555399840
NM_000138.5(FBN1):c.1838-2A>C
NM_000138.5(FBN1):c.1838-2A>G rs2141317516
NM_000138.5(FBN1):c.1843_1845del (p.Asn615del) rs1555399837
NM_000138.5(FBN1):c.1846G>A (p.Glu616Lys) rs397515764
NM_000138.5(FBN1):c.1846G>C (p.Glu616Gln) rs397515764
NM_000138.5(FBN1):c.1846G>T (p.Glu616Ter) rs397515764
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.1850_1851delinsTG (p.Cys617Leu)
NM_000138.5(FBN1):c.1855del (p.Thr619fs) rs2141317454
NM_000138.5(FBN1):c.1856C>T (p.Thr619Ile) rs377686210
NM_000138.5(FBN1):c.1859del (p.Pro620fs) rs2505595260
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.1876G>A (p.Gly626Arg) rs794728177
NM_000138.5(FBN1):c.187T>C (p.Tyr63His) rs867020123
NM_000138.5(FBN1):c.1881_1883inv (p.Cys628Asn)
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.1883G>T (p.Cys628Phe) rs1555399825
NM_000138.5(FBN1):c.1883_1895del (p.Cys628fs)
NM_000138.5(FBN1):c.1884C>G (p.Cys628Trp) rs150421653
NM_000138.5(FBN1):c.1888A>C (p.Asn630His) rs1555399821
NM_000138.5(FBN1):c.1888A>T (p.Asn630Tyr) rs1555399821
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.1891A>G (p.Thr631Ala)
NM_000138.5(FBN1):c.1895A>G (p.Asp632Gly) rs2505594965
NM_000138.5(FBN1):c.1897G>T (p.Gly633Cys) rs2141317297
NM_000138.5(FBN1):c.1899C>T (p.Gly633=)
NM_000138.5(FBN1):c.189T>G (p.Tyr63Ter) rs1597633183
NM_000138.5(FBN1):c.1900T>C (p.Ser634Pro) rs1566914005
NM_000138.5(FBN1):c.1901C>T (p.Ser634Phe)
NM_000138.5(FBN1):c.1902del (p.Tyr635fs)
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) rs886039089
NM_000138.5(FBN1):c.1909T>C (p.Cys637Arg) rs869025404
NM_000138.5(FBN1):c.1910G>A (p.Cys637Tyr) rs1478695794
NM_000138.5(FBN1):c.1910G>C (p.Cys637Ser) rs1478695794
NM_000138.5(FBN1):c.1911T>C (p.Cys637=) rs2505594875
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.1928T>G (p.Leu643Arg) rs1555399813
NM_000138.5(FBN1):c.1929_1930delinsTT (p.Ala644Ser) rs1555399812
NM_000138.5(FBN1):c.192T>C (p.Asn64=) rs2505779244
NM_000138.5(FBN1):c.1934_1935insCT (p.Gly646fs)
NM_000138.5(FBN1):c.1936G>A (p.Gly646Ser)
NM_000138.5(FBN1):c.1936_1951dup (p.Val651fs) rs2141317141
NM_000138.5(FBN1):c.1939C>G (p.Leu647Val) rs2505594710
NM_000138.5(FBN1):c.1940T>C (p.Leu647Pro) rs1566913983
NM_000138.5(FBN1):c.1941G>C (p.Leu647=) rs751430987
NM_000138.5(FBN1):c.1942del (p.Asp648fs) rs2505594680
NM_000138.5(FBN1):c.1944T>A (p.Asp648Glu) rs2141317175
NM_000138.5(FBN1):c.1944T>C (p.Asp648=) 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.1948dup (p.Arg650fs) rs1566913982
NM_000138.5(FBN1):c.1952T>C (p.Val651Ala)
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.1956T>G (p.Cys652Trp) rs1566913974
NM_000138.5(FBN1):c.1957_1958dup (p.Asp654fs) rs886041350
NM_000138.5(FBN1):c.195T>C (p.Ala65=) rs759873157
NM_000138.5(FBN1):c.1960+17G>A rs749990136
NM_000138.5(FBN1):c.1960+1G>C rs1555399804
NM_000138.5(FBN1):c.1960+2T>C rs1555399802
NM_000138.5(FBN1):c.1960+6A>T rs1200860234
NM_000138.5(FBN1):c.1960+9A>G rs2043696193
NM_000138.5(FBN1):c.1960G>A (p.Asp654Asn) rs1566913969
NM_000138.5(FBN1):c.1960G>C (p.Asp654His) rs1566913969
NM_000138.5(FBN1):c.1961-18A>G rs2505591616
NM_000138.5(FBN1):c.1961-1G>A rs2043686634
NM_000138.5(FBN1):c.1961-1G>T
NM_000138.5(FBN1):c.1961-2A>G rs1555399779
NM_000138.5(FBN1):c.1961-3T>G
NM_000138.5(FBN1):c.1961-4T>C rs2505591537
NM_000138.5(FBN1):c.1961-5T>C rs919746497
NM_000138.5(FBN1):c.1962C>T (p.Asp654=) rs2505591505
NM_000138.5(FBN1):c.1962_1981delinsAG (p.Asp654_Cys661delinsGluGly) rs1597574308
NM_000138.5(FBN1):c.1963A>G (p.Thr655Ala) rs2505591496
NM_000138.5(FBN1):c.1964C>T (p.Thr655Ile) rs779915218
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.1969_1970del (p.Met657fs) rs2141315944
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.1979C>T (p.Thr660Ile) rs2505591444
NM_000138.5(FBN1):c.197A>G (p.Tyr66Cys) rs774371494
NM_000138.5(FBN1):c.197A>T (p.Tyr66Phe) rs774371494
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) rs1282483526
NM_000138.5(FBN1):c.1988del (p.Gly663fs)
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=) rs183929553
NM_000138.5(FBN1):c.1992A>G (p.Gly664=) rs183929553
NM_000138.5(FBN1):c.1995C>A (p.Tyr665Ter) rs2141315893
NM_000138.5(FBN1):c.1995C>G (p.Tyr665Ter) rs2141315893
NM_000138.5(FBN1):c.1996A>G (p.Lys666Glu)
NM_000138.5(FBN1):c.1998G>A (p.Lys666=) rs2141315888
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>C (p.Met1Leu) rs730880097
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.2001dup (p.Gly668fs)
NM_000138.5(FBN1):c.2003delinsTGTAT (p.Gly668fs) rs1555399770
NM_000138.5(FBN1):c.2004C>T (p.Gly668=) rs1156461961
NM_000138.5(FBN1):c.2005C>T (p.Gln669Ter) rs2505591313
NM_000138.5(FBN1):c.2006A>C (p.Gln669Pro) rs939784046
NM_000138.5(FBN1):c.2006A>T (p.Gln669Leu) rs939784046
NM_000138.5(FBN1):c.2007G>A (p.Gln669=) rs2505591287
NM_000138.5(FBN1):c.2009_2018delinsTTGGTGCT (p.Cys670fs) rs2505591237
NM_000138.5(FBN1):c.200G>T (p.Cys67Phe) rs2044669166
NM_000138.5(FBN1):c.2010T>C (p.Cys670=)
NM_000138.5(FBN1):c.2011A>C (p.Ile671Leu)
NM_000138.5(FBN1):c.201T>G (p.Cys67Trp)
NM_000138.5(FBN1):c.201_203dup (p.Cys68dup) rs1555405664
NM_000138.5(FBN1):c.2021del (p.Leu674fs) rs2505591226
NM_000138.5(FBN1):c.2022G>A (p.Leu674=) rs794728182
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.2023T>C (p.Phe675Leu)
NM_000138.5(FBN1):c.2023_2026del (p.Phe675fs) rs886041349
NM_000138.5(FBN1):c.2025T>C (p.Phe675=) rs2505591198
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.202T>C (p.Cys68Arg) rs113604459
NM_000138.5(FBN1):c.202dup (p.Cys68fs) rs2505779226
NM_000138.5(FBN1):c.2031T>C (p.Ala677=) rs762312642
NM_000138.5(FBN1):c.2034_2052del (p.Thr679fs) rs2505591071
NM_000138.5(FBN1):c.2038A>G (p.Lys680Glu) rs2505591144
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.2040A>G (p.Lys680=)
NM_000138.5(FBN1):c.2044G>C (p.Glu682Gln) rs908212152
NM_000138.5(FBN1):c.2044G>T (p.Glu682Ter)
NM_000138.5(FBN1):c.2049C>G (p.Cys683Trp) rs2505591095
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>C (p.Cys684Ser) 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.2053T>C (p.Cys685Arg) 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>A (p.Cys685Ter) rs140603
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) rs2505590965
NM_000138.5(FBN1):c.2064T>G (p.Thr688=) rs2505590955
NM_000138.5(FBN1):c.206C>G (p.Pro69Arg)
NM_000138.5(FBN1):c.206_208del (p.Pro69_Gly70delinsArg) rs1555405660
NM_000138.5(FBN1):c.2071G>A (p.Ala691Thr) rs794728183
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.2091G>T (p.Gln697His) rs1555399752
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) rs2505779180
NM_000138.5(FBN1):c.2100T>C (p.Pro700=) rs2505590672
NM_000138.5(FBN1):c.2102C>G (p.Ala701Gly) rs2043683958
NM_000138.5(FBN1):c.2103A>G (p.Ala701=) rs2141315644
NM_000138.5(FBN1):c.2104C>T (p.Gln702Ter)
NM_000138.5(FBN1):c.210A>G (p.Gly70=) rs2505779175
NM_000138.5(FBN1):c.210A>T (p.Gly70=) rs2505779175
NM_000138.5(FBN1):c.2111C>G (p.Ser704Ter) rs2043683891
NM_000138.5(FBN1):c.2112A>C (p.Ser704=) rs2505590621
NM_000138.5(FBN1):c.2112A>T (p.Ser704=) rs2505590621
NM_000138.5(FBN1):c.2113+10A>T
NM_000138.5(FBN1):c.2113+11T>C
NM_000138.5(FBN1):c.2113+18_2113+19delinsAT rs2505590505
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>C rs730880105
NM_000138.5(FBN1):c.2113+2T>G rs730880105
NM_000138.5(FBN1):c.2113+3A>G
NM_000138.5(FBN1):c.2113+4T>C rs2141315610
NM_000138.5(FBN1):c.2113+8G>C
NM_000138.5(FBN1):c.2113G>A (p.Ala705Thr) rs1597574156
NM_000138.5(FBN1):c.2114-11A>C rs2505580543
NM_000138.5(FBN1):c.2114-15G>C rs1566912665
NM_000138.5(FBN1):c.2114-1G>A rs1555399484
NM_000138.5(FBN1):c.2114-1G>C rs1555399484
NM_000138.5(FBN1):c.2114-20T>C rs2505580572
NM_000138.5(FBN1):c.2114-2A>C rs886041440
NM_000138.5(FBN1):c.2114-3C>A
NM_000138.5(FBN1):c.2114-5T>G rs2505580527
NM_000138.5(FBN1):c.2114-6T>G
NM_000138.5(FBN1):c.2114-7A>G rs2505580530
NM_000138.5(FBN1):c.2116G>T (p.Glu706Ter) rs2141308933
NM_000138.5(FBN1):c.2118_2127del (p.Glu706fs) rs1555399482
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.2130dup (p.Cys711fs) rs1597571391
NM_000138.5(FBN1):c.2131T>A (p.Cys711Ser) rs1555399481
NM_000138.5(FBN1):c.2132G>A (p.Cys711Tyr) rs2505580391
NM_000138.5(FBN1):c.2132G>T (p.Cys711Phe) rs2505580391
NM_000138.5(FBN1):c.2137A>G (p.Ser713Gly) rs2505580359
NM_000138.5(FBN1):c.2138G>A (p.Ser713Asn)
NM_000138.5(FBN1):c.213G>A (p.Trp71Ter) rs2505779155
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) rs2505580304
NM_000138.5(FBN1):c.2146G>C (p.Gly716Arg) rs2505580284
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.2162_2165del (p.Gly721fs)
NM_000138.5(FBN1):c.2164A>G (p.Ser722Gly) rs1475750629
NM_000138.5(FBN1):c.2166T>G (p.Ser722Arg) rs752207298
NM_000138.5(FBN1):c.2167+1G>A rs2141308781
NM_000138.5(FBN1):c.2167+2dup rs2043632840
NM_000138.5(FBN1):c.2167+3A>C
NM_000138.5(FBN1):c.2167+4A>G rs2141308773
NM_000138.5(FBN1):c.2167G>T (p.Asp723Tyr) rs1555399477
NM_000138.5(FBN1):c.2168-11T>A rs769399615
NM_000138.5(FBN1):c.2168-11T>C rs769399615
NM_000138.5(FBN1):c.2168-11T>G rs769399615
NM_000138.5(FBN1):c.2168-15T>G rs2505576650
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.2168-1del
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) rs113512280
NM_000138.5(FBN1):c.2171T>A (p.Ile724Lys) rs878853677
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.2176del (p.Glu726fs) rs1555399385
NM_000138.5(FBN1):c.2177A>G (p.Glu726Gly) rs2505576546
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.2181T>C (p.Cys727=) rs2043617176
NM_000138.5(FBN1):c.2186del (p.Leu729fs) rs193922187
NM_000138.5(FBN1):c.2187A>G (p.Leu729=) rs61730055
NM_000138.5(FBN1):c.2191C>G (p.Pro731Ala) rs2505576458
NM_000138.5(FBN1):c.2200T>C (p.Cys734Arg) rs2141306513
NM_000138.5(FBN1):c.2201G>A (p.Cys734Tyr) rs794728187
NM_000138.5(FBN1):c.2201G>T (p.Cys734Phe) 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) rs2505576330
NM_000138.5(FBN1):c.2216G>A (p.Cys739Tyr) rs1555399378
NM_000138.5(FBN1):c.2217T>G (p.Cys739Trp) rs1008275504
NM_000138.5(FBN1):c.2219A>C (p.Glu740Ala) rs2043616665
NM_000138.5(FBN1):c.2222A>G (p.Asn741Ser) rs2505576295
NM_000138.5(FBN1):c.2222del (p.Asn741fs) rs2505576300
NM_000138.5(FBN1):c.2223C>A (p.Asn741Lys) rs2505576288
NM_000138.5(FBN1):c.2223C>G (p.Asn741Lys)
NM_000138.5(FBN1):c.2232G>T (p.Gly744=) rs762745991
NM_000138.5(FBN1):c.2237A>G (p.Tyr746Cys) rs1555399372
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.2243del (p.Cys748fs) rs1555399371
NM_000138.5(FBN1):c.2245A>C (p.Ile749Leu) rs1555399370
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) rs2043616369
NM_000138.5(FBN1):c.224C>G (p.Pro75Arg) rs1555405654
NM_000138.5(FBN1):c.2251A>C (p.Asn751His)
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.2260T>C (p.Tyr754His)
NM_000138.5(FBN1):c.2261A>G (p.Tyr754Cys) rs137854479
NM_000138.5(FBN1):c.2263G>A (p.Glu755Lys) rs2505576092
NM_000138.5(FBN1):c.2265A>G (p.Glu755=)
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) rs2505576040
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=) rs1028807052
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.2287T>G (p.Cys763Gly) rs1555399361
NM_000138.5(FBN1):c.2288G>A (p.Cys763Tyr)
NM_000138.5(FBN1):c.2289C>A (p.Cys763Ter) rs181311020
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.2290G>T (p.Val764Phe) rs769641351
NM_000138.5(FBN1):c.2291T>C (p.Val764Ala) rs771050088
NM_000138.5(FBN1):c.2292del (p.Asp765fs) rs2141306307
NM_000138.5(FBN1):c.2293+15C>T rs2505575908
NM_000138.5(FBN1):c.2293+17A>G rs1011459998
NM_000138.5(FBN1):c.2293+1G>A rs1060501092
NM_000138.5(FBN1):c.2293+8G>A rs1348851100
NM_000138.5(FBN1):c.2294-11T>A rs2505573945
NM_000138.5(FBN1):c.2294-18T>C rs2505573982
NM_000138.5(FBN1):c.2294-1G>C rs1064793914
NM_000138.5(FBN1):c.2294-20T>C rs2505573997
NM_000138.5(FBN1):c.2294-2A>G rs2505573903
NM_000138.5(FBN1):c.2294-3C>A rs2043607673
NM_000138.5(FBN1):c.2294-5T>C rs1174070663
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.2296del (p.Ile766fs) rs2141305162
NM_000138.5(FBN1):c.2298_2301del (p.Ile766fs) rs1555399281
NM_000138.5(FBN1):c.2299A>T (p.Asn767Tyr) rs2505573869
NM_000138.5(FBN1):c.229G>A (p.Gly77Arg) rs794728290
NM_000138.5(FBN1):c.2302G>A (p.Glu768Lys) rs2505573862
NM_000138.5(FBN1):c.2302G>T (p.Glu768Ter) rs2505573862
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.2305_2315del (p.Cys769fs) rs1566911957
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.2307T>G (p.Cys769Trp) rs2141305134
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.2327G>A (p.Cys776Tyr) rs1555399273
NM_000138.5(FBN1):c.2328_2329del (p.Cys776_Asp777delinsTer)
NM_000138.5(FBN1):c.2329G>C (p.Asp777His) rs2505573768
NM_000138.5(FBN1):c.2331C>T (p.Asp777=)
NM_000138.5(FBN1):c.2334T>C (p.Asn778=) rs2043607159
NM_000138.5(FBN1):c.2335G>A (p.Gly779Arg) rs2505573758
NM_000138.5(FBN1):c.2339A>C (p.Gln780Pro) rs886039058
NM_000138.5(FBN1):c.2340del (p.Gln780fs) rs1566911942
NM_000138.5(FBN1):c.2341T>A (p.Cys781Ser) rs397515766
NM_000138.5(FBN1):c.2341T>C (p.Cys781Arg) rs397515766
NM_000138.5(FBN1):c.2341T>G (p.Cys781Gly) rs397515766
NM_000138.5(FBN1):c.2342G>A (p.Cys781Tyr) rs1555399271
NM_000138.5(FBN1):c.2342G>T (p.Cys781Phe)
NM_000138.5(FBN1):c.2342del (p.Cys781fs) rs2505573722
NM_000138.5(FBN1):c.2343T>C (p.Cys781=) rs199647257
NM_000138.5(FBN1):c.2343T>G (p.Cys781Trp) rs199647257
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.2350A>T (p.Thr784Ser) rs2505573686
NM_000138.5(FBN1):c.2351C>T (p.Thr784Ile) rs2043606965
NM_000138.5(FBN1):c.2352T>A (p.Thr784=) rs2141305065
NM_000138.5(FBN1):c.2352T>C (p.Thr784=)
NM_000138.5(FBN1):c.2353_2355del (p.Pro785del) rs1597569606
NM_000138.5(FBN1):c.2354C>A (p.Pro785His) rs956678986
NM_000138.5(FBN1):c.2356G>A (p.Gly786Arg) rs2505573651
NM_000138.5(FBN1):c.2364dup (p.Val789fs) rs2505573626
NM_000138.5(FBN1):c.2368T>A (p.Cys790Ser) rs1555399270
NM_000138.5(FBN1):c.2368T>C (p.Cys790Arg) rs1555399270
NM_000138.5(FBN1):c.2368T>G (p.Cys790Gly) rs1555399270
NM_000138.5(FBN1):c.2369G>A (p.Cys790Tyr) rs193922188
NM_000138.5(FBN1):c.2369G>C (p.Cys790Ser) rs193922188
NM_000138.5(FBN1):c.2369G>T (p.Cys790Phe) rs193922188
NM_000138.5(FBN1):c.2374T>C (p.Cys792Arg) rs2141305039
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.2379dup (p.Lys794fs) rs1597569589
NM_000138.5(FBN1):c.237G>A (p.Gln79=) rs2505779101
NM_000138.5(FBN1):c.2384G>A (p.Gly795Glu) rs1555399267
NM_000138.5(FBN1):c.2384G>T (p.Gly795Val) rs1555399267
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=) rs1207115566
NM_000138.5(FBN1):c.238T>C (p.Cys80Arg) rs111764111
NM_000138.5(FBN1):c.238T>G (p.Cys80Gly) rs111764111
NM_000138.5(FBN1):c.2391C>T (p.Ile797=) rs2141304992
NM_000138.5(FBN1):c.2397A>G (p.Lys799=) rs2505573445
NM_000138.5(FBN1):c.2398C>G (p.Pro800Ala) rs2505573438
NM_000138.5(FBN1):c.239G>A (p.Cys80Tyr) rs397515767
NM_000138.5(FBN1):c.23_34del (p.Glu8_Leu11del) rs2505822304
NM_000138.5(FBN1):c.2404C>T (p.Leu802=) rs2505573423
NM_000138.5(FBN1):c.2407A>T (p.Lys803Ter) rs397515768
NM_000138.5(FBN1):c.2410dup (p.Thr804fs) rs1597569560
NM_000138.5(FBN1):c.2411C>T (p.Thr804Ile) rs1220678313
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+1G>A rs1555399257
NM_000138.5(FBN1):c.2419+2T>G rs1597569536
NM_000138.5(FBN1):c.2419G>A (p.Asp807Asn) rs1566911886
NM_000138.5(FBN1):c.2420-1G>T rs1555399214
NM_000138.5(FBN1):c.2420-2A>G rs1060501052
NM_000138.5(FBN1):c.2420-8T>A rs140582
NM_000138.5(FBN1):c.2420-8del
NM_000138.5(FBN1):c.2422del (p.Ile808fs) rs2505572153
NM_000138.5(FBN1):c.2426A>G (p.Asp809Gly) rs1555399211
NM_000138.5(FBN1):c.2431T>C (p.Cys811Arg) rs2505572133
NM_000138.5(FBN1):c.2432G>A (p.Cys811Tyr) rs1555399210
NM_000138.5(FBN1):c.2433C>A (p.Cys811Ter) rs193921256
NM_000138.5(FBN1):c.2433C>G (p.Cys811Trp) rs193921256
NM_000138.5(FBN1):c.2434G>T (p.Glu812Ter) rs201778577
NM_000138.5(FBN1):c.2438C>G (p.Ser813Ter) rs1597569265
NM_000138.5(FBN1):c.2441G>A (p.Ser814Asn) rs2043600469
NM_000138.5(FBN1):c.2442T>A (p.Ser814Arg) rs1555399208
NM_000138.5(FBN1):c.2446T>C (p.Cys816Arg) rs1555399206
NM_000138.5(FBN1):c.2447G>A (p.Cys816Tyr) rs397515770
NM_000138.5(FBN1):c.2447G>C (p.Cys816Ser) rs397515770
NM_000138.5(FBN1):c.2448C>G (p.Cys816Trp) rs397515771
NM_000138.5(FBN1):c.2458G>A (p.Val820Ile)
NM_000138.5(FBN1):c.2459T>C (p.Val820Ala) rs2505572040
NM_000138.5(FBN1):c.2462G>A (p.Cys821Tyr) rs2043600123
NM_000138.5(FBN1):c.2467_2468insG (p.Asn823fs) rs1555399204
NM_000138.5(FBN1):c.246C>G (p.Val82=) rs2505779071
NM_000138.5(FBN1):c.247+1G>A rs25404
NM_000138.5(FBN1):c.247+1G>T rs25404
NM_000138.5(FBN1):c.247+20G>A rs2140737315
NM_000138.5(FBN1):c.247+2dup rs397515772
NM_000138.5(FBN1):c.247+3A>C rs201854371
NM_000138.5(FBN1):c.247+4del rs2505779050
NM_000138.5(FBN1):c.247+5G>A rs2044668542
NM_000138.5(FBN1):c.247+5G>C rs2044668542
NM_000138.5(FBN1):c.247+9A>G rs1298547542
NM_000138.5(FBN1):c.2473C>A (p.Pro825Thr)
NM_000138.5(FBN1):c.2474del (p.Pro825fs) rs1555399202
NM_000138.5(FBN1):c.2477G>A (p.Gly826Asp) rs1555399200
NM_000138.5(FBN1):c.2478C>T (p.Gly826=) rs2505571969
NM_000138.5(FBN1):c.2479T>C (p.Ser827Pro) rs193922189
NM_000138.5(FBN1):c.247C>T (p.Pro83Ser) rs1257434757
NM_000138.5(FBN1):c.248-12G>A
NM_000138.5(FBN1):c.248-151A>G rs2505776238
NM_000138.5(FBN1):c.248-18C>G
NM_000138.5(FBN1):c.248-3C>G rs1555405537
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.2488T>G (p.Cys830Gly) rs397515773
NM_000138.5(FBN1):c.2489G>A (p.Cys830Tyr) rs397515774
NM_000138.5(FBN1):c.2489G>C (p.Cys830Ser) rs397515774
NM_000138.5(FBN1):c.2489G>T (p.Cys830Phe) rs397515774
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>A (p.Cys832Ser)
NM_000138.5(FBN1):c.2494T>C (p.Cys832Arg) rs2505571907
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.249C>A (p.Pro83=) rs773473746
NM_000138.5(FBN1):c.24G>C (p.Glu8Asp) rs2505822356
NM_000138.5(FBN1):c.2502_2513del (p.Glu835_Leu838del) rs1555399195
NM_000138.5(FBN1):c.2504A>T (p.Glu835Val)
NM_000138.5(FBN1):c.2506del (p.Ser836fs) rs1566911709
NM_000138.5(FBN1):c.2508T>A (p.Ser836Arg) rs193922190
NM_000138.5(FBN1):c.2508T>C (p.Ser836=) rs193922190
NM_000138.5(FBN1):c.250A>G (p.Ile84Val)
NM_000138.5(FBN1):c.2513del (p.Leu838fs) rs2141304158
NM_000138.5(FBN1):c.2519C>A (p.Pro840Gln) rs397515777
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=) rs2505571783
NM_000138.5(FBN1):c.2529del (p.Ile844fs) rs1555399193
NM_000138.5(FBN1):c.252T>C (p.Ile84=) rs2505775863
NM_000138.5(FBN1):c.2535C>T (p.Cys845=) rs1487696125
NM_000138.5(FBN1):c.2536A>G (p.Ile846Val)
NM_000138.5(FBN1):c.2539+10T>A rs878853679
NM_000138.5(FBN1):c.2539+10T>C rs878853679
NM_000138.5(FBN1):c.2539+13C>T rs2505571687
NM_000138.5(FBN1):c.2539+17G>A rs559032183
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+2T>G rs1597569159
NM_000138.5(FBN1):c.2539+5T>C rs2505571719
NM_000138.5(FBN1):c.2539+6T>G rs2043598669
NM_000138.5(FBN1):c.2539+9C>T rs765271763
NM_000138.5(FBN1):c.253T>A (p.Cys85Ser)
NM_000138.5(FBN1):c.2540-10T>A rs2505571302
NM_000138.5(FBN1):c.2540-9C>T rs2505571297
NM_000138.5(FBN1):c.2542A>C (p.Thr848Pro) rs193922191
NM_000138.5(FBN1):c.2542A>G (p.Thr848Ala)
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.2548A>C (p.Lys850Gln) rs1481779864
NM_000138.5(FBN1):c.2548A>T (p.Lys850Ter)
NM_000138.5(FBN1):c.254G>A (p.Cys85Tyr) rs2505775858
NM_000138.5(FBN1):c.2551G>A (p.Gly851Ser) rs2141303833
NM_000138.5(FBN1):c.2552G>C (p.Gly851Ala)
NM_000138.5(FBN1):c.2553C>T (p.Gly851=) rs770236467
NM_000138.5(FBN1):c.2554A>G (p.Thr852Ala) rs2141303822
NM_000138.5(FBN1):c.2557T>A (p.Cys853Ser) rs1555399165
NM_000138.5(FBN1):c.2557T>C (p.Cys853Arg) rs1555399165
NM_000138.5(FBN1):c.2558G>A (p.Cys853Tyr) rs2505571206
NM_000138.5(FBN1):c.2559C>A (p.Cys853Ter) rs111981744
NM_000138.5(FBN1):c.2559C>G (p.Cys853Trp) rs111981744
NM_000138.5(FBN1):c.255C>A (p.Cys85Ter) rs1555405536
NM_000138.5(FBN1):c.2560T>C (p.Trp854Arg) rs2043596204
NM_000138.5(FBN1):c.2561G>A (p.Trp854Ter) rs1597568968
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.2563C>T (p.Gln855Ter) rs1057519502
NM_000138.5(FBN1):c.2567C>G (p.Thr856Ser) rs2505571159
NM_000138.5(FBN1):c.2567C>T (p.Thr856Ile) rs2505571159
NM_000138.5(FBN1):c.2568T>C (p.Thr856=) rs781607814
NM_000138.5(FBN1):c.256del (p.Arg86fs) rs2505775850
NM_000138.5(FBN1):c.2572A>G (p.Ile858Val) rs2043595874
NM_000138.5(FBN1):c.2573T>C (p.Ile858Thr)
NM_000138.5(FBN1):c.257G>A (p.Arg86Gln) rs2044650738
NM_000138.5(FBN1):c.2581C>A (p.Arg861=)
NM_000138.5(FBN1):c.2581C>G (p.Arg861Gly) rs140583
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.2586dup (p.Glu863Ter) rs1555399160
NM_000138.5(FBN1):c.2588A>C (p.Glu863Ala)
NM_000138.5(FBN1):c.258G>T (p.Arg86=) rs930004823
NM_000138.5(FBN1):c.2591del (p.Ile864fs)
NM_000138.5(FBN1):c.2595C>A (p.Asn865Lys) rs760420637
NM_000138.5(FBN1):c.2597T>A (p.Ile866Asn) rs2505570991
NM_000138.5(FBN1):c.2606C>A (p.Ala869Asp)
NM_000138.5(FBN1):c.2608A>G (p.Thr870Ala) rs2505570951
NM_000138.5(FBN1):c.260A>G (p.His87Arg) rs1060501080
NM_000138.5(FBN1):c.2612T>C (p.Leu871Ser) rs2505570936
NM_000138.5(FBN1):c.2613A>G (p.Leu871=) rs770290542
NM_000138.5(FBN1):c.2615A>G (p.Lys872Arg)
NM_000138.5(FBN1):c.2615del (p.Lys872fs) rs2505570930
NM_000138.5(FBN1):c.2618C>T (p.Ser873Phe) rs2043595271
NM_000138.5(FBN1):c.2621A>G (p.Gln874Arg) rs2043595247
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.2627G>C (p.Cys876Ser)
NM_000138.5(FBN1):c.2627G>T (p.Cys876Phe) rs794728193
NM_000138.5(FBN1):c.2627_2628insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGTCCCAGTGCTG (p.Cys876fs) rs2505570881
NM_000138.5(FBN1):c.2628C>G (p.Cys876Trp) rs112085967
NM_000138.5(FBN1):c.2629_2645dup (p.Trp883fs) rs2505570787
NM_000138.5(FBN1):c.2630C>A (p.Ser877Tyr)
NM_000138.5(FBN1):c.2630C>T (p.Ser877Phe) rs1555399153
NM_000138.5(FBN1):c.2631del (p.Ser878fs) rs2141303607
NM_000138.5(FBN1):c.2634C>T (p.Ser878=) rs770395971
NM_000138.5(FBN1):c.2636T>C (p.Leu879Pro) rs2043595042
NM_000138.5(FBN1):c.2636T>G (p.Leu879Arg)
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.2638G>T (p.Gly880Cys) rs794728194
NM_000138.5(FBN1):c.2639G>C (p.Gly880Ala) rs886038953
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>G (p.Pro886Arg) rs1060501083
NM_000138.5(FBN1):c.2657C>T (p.Pro886Leu) rs1060501083
NM_000138.5(FBN1):c.2657_2667del (p.Pro886fs) rs1555399146
NM_000138.5(FBN1):c.2657_2671del (p.Pro886_Cys890del) rs2141303486
NM_000138.5(FBN1):c.2659T>A (p.Cys887Ser) rs2141303537
NM_000138.5(FBN1):c.2659T>C (p.Cys887Arg) rs2141303537
NM_000138.5(FBN1):c.265T>C (p.Cys89Arg) rs1555405533
NM_000138.5(FBN1):c.2660G>A (p.Cys887Tyr) rs2043594601
NM_000138.5(FBN1):c.2660G>C (p.Cys887Ser) rs2043594601
NM_000138.5(FBN1):c.2662A>T (p.Thr888Ser) rs1462845316
NM_000138.5(FBN1):c.2664C>T (p.Thr888=) rs1597568804
NM_000138.5(FBN1):c.2665C>G (p.Leu889Val) rs1297045802
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.2669G>A (p.Cys890Tyr) rs1555399144
NM_000138.5(FBN1):c.266G>A (p.Cys89Tyr) rs112660651
NM_000138.5(FBN1):c.266G>C (p.Cys89Ser) rs112660651
NM_000138.5(FBN1):c.266G>T (p.Cys89Phe) rs112660651
NM_000138.5(FBN1):c.2673A>C (p.Gln891His)
NM_000138.5(FBN1):c.2673A>G (p.Gln891=) rs1555399143
NM_000138.5(FBN1):c.2677+15T>C rs1203122400
NM_000138.5(FBN1):c.2677+16G>A rs2505570561
NM_000138.5(FBN1):c.2677+1G>A rs2505570622
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>A (p.Asp893Asn) rs193922193
NM_000138.5(FBN1):c.2677G>C (p.Asp893His) rs193922193
NM_000138.5(FBN1):c.2677G>T (p.Asp893Tyr) rs193922193
NM_000138.5(FBN1):c.2678-10T>C rs1457653118
NM_000138.5(FBN1):c.2678-14G>T rs369475895
NM_000138.5(FBN1):c.2678-15C>A rs181681840
NM_000138.5(FBN1):c.2678-16del rs747390622
NM_000138.5(FBN1):c.2678-1G>T rs2505568808
NM_000138.5(FBN1):c.2678-2A>G rs1555399101
NM_000138.5(FBN1):c.2678-6T>G rs1555399102
NM_000138.5(FBN1):c.2678-8T>C rs2505568829
NM_000138.5(FBN1):c.2678-9T>A rs2141302502
NM_000138.5(FBN1):c.2678A>G (p.Asp893Gly) rs775538043
NM_000138.5(FBN1):c.2679T>C (p.Asp893=) rs2505568791
NM_000138.5(FBN1):c.2682_2685del (p.Ile895fs) rs2141302451
NM_000138.5(FBN1):c.2682del (p.Ile895fs) rs193922194
NM_000138.5(FBN1):c.2683A>T (p.Ile895Leu) rs772308703
NM_000138.5(FBN1):c.2685dup (p.Cys896fs) rs2505568752
NM_000138.5(FBN1):c.2686T>A (p.Cys896Ser)
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) rs2141302442
NM_000138.5(FBN1):c.2687G>T (p.Cys896Phe)
NM_000138.5(FBN1):c.2691T>C (p.Gly897=) rs1555399096
NM_000138.5(FBN1):c.2691dup (p.Lys898Ter) rs397515779
NM_000138.5(FBN1):c.2695G>A (p.Gly899Arg) rs869025405
NM_000138.5(FBN1):c.2695G>C (p.Gly899Arg) rs869025405
NM_000138.5(FBN1):c.2696G>A (p.Gly899Glu) rs1555399094
NM_000138.5(FBN1):c.2696G>C (p.Gly899Ala) rs1555399094
NM_000138.5(FBN1):c.2696_2697dup (p.Tyr900fs) rs2141302411
NM_000138.5(FBN1):c.2698_2699insGG (p.Tyr900fs) rs1555399093
NM_000138.5(FBN1):c.2698del (p.Tyr900fs) rs2505568693
NM_000138.5(FBN1):c.2699A>G (p.Tyr900Cys)
NM_000138.5(FBN1):c.2700C>T (p.Tyr900=) rs2505568685
NM_000138.5(FBN1):c.2702C>T (p.Ser901Leu) rs1177995453
NM_000138.5(FBN1):c.2704A>G (p.Arg902Gly) rs1419423251
NM_000138.5(FBN1):c.2714G>A (p.Gly905Glu) rs1060501091
NM_000138.5(FBN1):c.2714del (p.Gly905fs) rs1555399089
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>T (p.Gln907His) rs781062880
NM_000138.5(FBN1):c.2722T>C (p.Cys908Arg) rs1060501021
NM_000138.5(FBN1):c.2723G>A (p.Cys908Tyr) rs1057523406
NM_000138.5(FBN1):c.2723G>C (p.Cys908Ser) rs1057523406
NM_000138.5(FBN1):c.2723G>T (p.Cys908Phe) rs1057523406
NM_000138.5(FBN1):c.2724T>G (p.Cys908Trp)
NM_000138.5(FBN1):c.2727A>G (p.Glu909=) rs2043583978
NM_000138.5(FBN1):c.2728+13A>G rs2505568565
NM_000138.5(FBN1):c.2728+14C>G rs375217853
NM_000138.5(FBN1):c.2728+16T>C
NM_000138.5(FBN1):c.2728+16T>G rs2505568547
NM_000138.5(FBN1):c.2728+18T>A rs751336956
NM_000138.5(FBN1):c.2728+1G>C rs794728322
NM_000138.5(FBN1):c.2728+6del
NM_000138.5(FBN1):c.2728_2728+1delinsAA rs1566911331
NM_000138.5(FBN1):c.2729-11T>C rs2505564934
NM_000138.5(FBN1):c.2729-12T>G
NM_000138.5(FBN1):c.2729-13T>C
NM_000138.5(FBN1):c.2729-14T>G rs2505564945
NM_000138.5(FBN1):c.2729-17T>C rs1196492519
NM_000138.5(FBN1):c.2729-17dup rs35314876
NM_000138.5(FBN1):c.2729-19A>T rs772340153
NM_000138.5(FBN1):c.2729-1G>A rs1487002781
NM_000138.5(FBN1):c.2729-21_2729-15del
NM_000138.5(FBN1):c.2729-2A>G rs113813525
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.2732T>C (p.Ile911Thr)
NM_000138.5(FBN1):c.2734G>C (p.Asp912His) rs2505564827
NM_000138.5(FBN1):c.2736T>C (p.Asp912=) rs2505564818
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.2738A>G (p.Glu913Gly) rs1555398995
NM_000138.5(FBN1):c.2740T>A (p.Cys914Ser) rs1555398994
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.2753del (p.Pro918fs) rs2505564723
NM_000138.5(FBN1):c.2756G>T (p.Gly919Val)
NM_000138.5(FBN1):c.2757A>G (p.Gly919=) rs397515780
NM_000138.5(FBN1):c.2758G>A (p.Val920Met) rs2043569547
NM_000138.5(FBN1):c.2761T>C (p.Cys921Arg) rs1597567249
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.2764_2780del (p.Cys921_Lys922insTer) rs1555398988
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.2777G>C (p.Cys926Ser) rs1555398989
NM_000138.5(FBN1):c.2785A>G (p.Thr929Ala) rs372203315
NM_000138.5(FBN1):c.2786C>G (p.Thr929Ser) rs764560018
NM_000138.5(FBN1):c.2790G>A (p.Arg930=) rs1487113959
NM_000138.5(FBN1):c.2792G>T (p.Gly931Val) rs200078617
NM_000138.5(FBN1):c.2793G>C (p.Gly931=) rs775785545
NM_000138.5(FBN1):c.2793del (p.Ser932fs) rs778900586
NM_000138.5(FBN1):c.2795C>G (p.Ser932Ter) rs2505564482
NM_000138.5(FBN1):c.2795C>T (p.Ser932Leu) rs2505564482
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>C (p.Lys934Thr) rs1489199503
NM_000138.5(FBN1):c.2801A>G (p.Lys934Arg) rs1489199503
NM_000138.5(FBN1):c.2802G>T (p.Lys934Asn) rs1193280454
NM_000138.5(FBN1):c.2803T>G (p.Cys935Gly) rs2505564445
NM_000138.5(FBN1):c.2806C>T (p.Gln936Ter) rs794728197
NM_000138.5(FBN1):c.2808_2810del (p.Gln936_Cys937delinsHis) rs1555398981
NM_000138.5(FBN1):c.2810G>A (p.Cys937Tyr) rs113602180
NM_000138.5(FBN1):c.2810G>T (p.Cys937Phe)
NM_000138.5(FBN1):c.2815A>G (p.Ser939Gly)
NM_000138.5(FBN1):c.2817T>C (p.Ser939=) rs1254659886
NM_000138.5(FBN1):c.2819G>T (p.Gly940Val)
NM_000138.5(FBN1):c.281G>A (p.Cys94Tyr) rs730880098
NM_000138.5(FBN1):c.281G>T (p.Cys94Phe) rs730880098
NM_000138.5(FBN1):c.2827T>C (p.Leu943=)
NM_000138.5(FBN1):c.2830del (p.Asp944fs) rs2505564326
NM_000138.5(FBN1):c.2833G>C (p.Ala945Pro) rs1216969896
NM_000138.5(FBN1):c.2833del (p.Ala945fs) rs397515781
NM_000138.5(FBN1):c.2846T>C (p.Ile949Thr)
NM_000138.5(FBN1):c.2848T>C (p.Cys950Arg) rs2141300266
NM_000138.5(FBN1):c.2849G>A (p.Cys950Tyr) rs1555398974
NM_000138.5(FBN1):c.2849G>C (p.Cys950Ser) rs1555398974
NM_000138.5(FBN1):c.2849G>T (p.Cys950Phe) rs1555398974
NM_000138.5(FBN1):c.284C>A (p.Ser95Ter) rs922684362
NM_000138.5(FBN1):c.2850T>A (p.Cys950Ter) rs2505564245
NM_000138.5(FBN1):c.2851C>G (p.Leu951Val)
NM_000138.5(FBN1):c.2854+10G>A rs768540741
NM_000138.5(FBN1):c.2854+1G>A rs112809590
NM_000138.5(FBN1):c.2854+1G>T rs112809590
NM_000138.5(FBN1):c.2854+20T>C rs2043567874
NM_000138.5(FBN1):c.2854+2T>C rs2043568077
NM_000138.5(FBN1):c.2854+4A>G rs2505564217
NM_000138.5(FBN1):c.2854G>A (p.Asp952Asn) rs2141300251
NM_000138.5(FBN1):c.2854G>C (p.Asp952His) rs2141300251
NM_000138.5(FBN1):c.2855-11C>T rs2505558849
NM_000138.5(FBN1):c.2855-12T>G
NM_000138.5(FBN1):c.2855-16T>C rs2141297617
NM_000138.5(FBN1):c.2855-18C>G rs766644140
NM_000138.5(FBN1):c.2855-19C>T rs2505558884
NM_000138.5(FBN1):c.2855-1G>A rs112202622
NM_000138.5(FBN1):c.2855-20C>T
NM_000138.5(FBN1):c.2855-2A>G rs2141297577
NM_000138.5(FBN1):c.2856T>C (p.Asp952=) rs2505558793
NM_000138.5(FBN1):c.2857dup (p.Ile953fs) rs1555398837
NM_000138.5(FBN1):c.2858del (p.Ile953fs) rs1555398836
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.2875_2908dup (p.Pro970fs) rs2141297440
NM_000138.5(FBN1):c.2876T>C (p.Phe959Ser) rs2505558712
NM_000138.5(FBN1):c.2876del (p.Phe959fs) rs2043545549
NM_000138.5(FBN1):c.2882G>A (p.Arg961Lys) rs886039100
NM_000138.5(FBN1):c.2884_2890del (p.Tyr962fs) rs1555398833
NM_000138.5(FBN1):c.2886C>A (p.Tyr962Ter) rs772108557
NM_000138.5(FBN1):c.2886C>G (p.Tyr962Ter) rs772108557
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.2893G>T (p.Glu965Ter)
NM_000138.5(FBN1):c.2896G>T (p.Glu966Ter) rs1555398830
NM_000138.5(FBN1):c.2901del (p.Glu966_Cys967insTer) rs2505558579
NM_000138.5(FBN1):c.2903C>T (p.Thr968Ile) rs781698952
NM_000138.5(FBN1):c.2903_2910dup (p.Ile971fs) rs2141297429
NM_000138.5(FBN1):c.2905C>T (p.Leu969=) rs376776832
NM_000138.5(FBN1):c.2909C>G (p.Pro970Arg) rs751985082
NM_000138.5(FBN1):c.2913T>C (p.Ile971=) rs2141297416
NM_000138.5(FBN1):c.2913del (p.Ile971fs) rs1555398826
NM_000138.5(FBN1):c.2923C>T (p.His975Tyr) rs1597565510
NM_000138.5(FBN1):c.2927G>T (p.Arg976Leu) rs140954477
NM_000138.5(FBN1):c.2929A>G (p.Met977Val) rs776833421
NM_000138.5(FBN1):c.2930T>C (p.Met977Thr) rs199682686
NM_000138.5(FBN1):c.2931G>A (p.Met977Ile) rs759544189
NM_000138.5(FBN1):c.2933A>G (p.Asp978Gly) rs2505558393
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.293A>G (p.Asn98Ser) rs2505775716
NM_000138.5(FBN1):c.293del (p.Asn98fs) rs2044650356
NM_000138.5(FBN1):c.2942G>A (p.Cys981Tyr) rs727505110
NM_000138.5(FBN1):c.2942G>C (p.Cys981Ser) rs727505110
NM_000138.5(FBN1):c.2943C>G (p.Cys981Trp) rs2505558311
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.2948_2970del (p.Cys982_Ser983insTer) rs1555398811
NM_000138.5(FBN1):c.2949C>A (p.Ser983=) rs769307676
NM_000138.5(FBN1):c.2949del (p.Val984fs) rs2505558291
NM_000138.5(FBN1):c.2952C>A (p.Val984=) rs374670384
NM_000138.5(FBN1):c.2952C>T (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.2956del (p.Ala986fs)
NM_000138.5(FBN1):c.2956dup (p.Ala986fs)
NM_000138.5(FBN1):c.2959G>C (p.Ala987Pro) rs2141297282
NM_000138.5(FBN1):c.2959del (p.Ala987fs)
NM_000138.5(FBN1):c.295A>G (p.Met99Val) rs2505775711
NM_000138.5(FBN1):c.2961C>G (p.Ala987=) rs2505558192
NM_000138.5(FBN1):c.2961del (p.Trp988fs)
NM_000138.5(FBN1):c.2962dup (p.Trp988fs) rs2505558188
NM_000138.5(FBN1):c.2963G>A (p.Trp988Ter) rs2043543553
NM_000138.5(FBN1):c.2964G>A (p.Trp988Ter) rs2505558168
NM_000138.5(FBN1):c.2964_2965delinsTT (p.Trp988_Gly989delinsCysCys) rs2141297274
NM_000138.5(FBN1):c.2965G>A (p.Gly989Ser) rs1274304020
NM_000138.5(FBN1):c.2966G>A (p.Gly989Asp)
NM_000138.5(FBN1):c.2966G>C (p.Gly989Ala) rs2043543494
NM_000138.5(FBN1):c.2966dup (p.Thr990fs) rs2505558156
NM_000138.5(FBN1):c.2967T>G (p.Gly989=)
NM_000138.5(FBN1):c.2970T>C (p.Thr990=)
NM_000138.5(FBN1):c.2976A>C (p.Glu992Asp) rs755477434
NM_000138.5(FBN1):c.2979C>A (p.Cys993Ter) rs150126098
NM_000138.5(FBN1):c.2980G>T (p.Glu994Ter) rs780301913
NM_000138.5(FBN1):c.2981A>C (p.Glu994Ala)
NM_000138.5(FBN1):c.2982G>A (p.Glu994=) rs758745637
NM_000138.5(FBN1):c.2982_2999del (p.Glu994_Asn1000delinsAsp) rs2505557986
NM_000138.5(FBN1):c.2983G>A (p.Glu995Lys) rs2505558068
NM_000138.5(FBN1):c.2985G>A (p.Glu995=) rs2505558063
NM_000138.5(FBN1):c.2986T>A (p.Cys996Ser) rs140592
NM_000138.5(FBN1):c.2986dup (p.Cys996fs) rs2043543231
NM_000138.5(FBN1):c.2987G>A (p.Cys996Tyr) rs2141297233
NM_000138.5(FBN1):c.2988T>A (p.Cys996Ter) rs1555398803
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.2993T>C (p.Met998Thr) rs2505558015
NM_000138.5(FBN1):c.2994G>T (p.Met998Ile)
NM_000138.5(FBN1):c.2999A>T (p.Asn1000Ile) rs2043543012
NM_000138.5(FBN1):c.299G>A (p.Cys100Tyr) rs397515782
NM_000138.5(FBN1):c.299G>T (p.Cys100Phe) rs397515782
NM_000138.5(FBN1):c.2T>C (p.Met1Thr) rs886041536
NM_000138.5(FBN1):c.2T>G (p.Met1Arg) rs886041536
NM_000138.5(FBN1):c.3000T>C (p.Asn1000=)
NM_000138.5(FBN1):c.3001dup (p.Thr1001fs)
NM_000138.5(FBN1):c.3002C>A (p.Thr1001Asn) rs2505557958
NM_000138.5(FBN1):c.3006T>A (p.Pro1002=) rs2141297191
NM_000138.5(FBN1):c.3006T>C (p.Pro1002=) rs2141297191
NM_000138.5(FBN1):c.3007G>T (p.Glu1003Ter) rs2505557918
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.3017A>G (p.Glu1006Gly)
NM_000138.5(FBN1):c.3018_3033del (p.Glu1006fs)
NM_000138.5(FBN1):c.301A>T (p.Thr101Ser) rs2505775687
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.3028A>C (p.Arg1010=)
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.3037G>C (p.Gly1013Arg) rs140593
NM_000138.5(FBN1):c.3038del (p.Gly1013fs) rs2141297097
NM_000138.5(FBN1):c.304T>C (p.Cys102Arg) rs1566937712
NM_000138.5(FBN1):c.3051A>G (p.Lys1017=) rs2505557656
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) rs2505557639
NM_000138.5(FBN1):c.3059C>A (p.Thr1020Lys) rs2043542093
NM_000138.5(FBN1):c.3059C>G (p.Thr1020Arg) rs2043542093
NM_000138.5(FBN1):c.305G>A (p.Cys102Tyr) rs794728292
NM_000138.5(FBN1):c.305G>C (p.Cys102Ser) rs794728292
NM_000138.5(FBN1):c.3061_3082+172del rs1555398753
NM_000138.5(FBN1):c.3064G>A (p.Gly1022Arg) rs2505557615
NM_000138.5(FBN1):c.3064G>T (p.Gly1022Ter) rs2505557615
NM_000138.5(FBN1):c.3065G>A (p.Gly1022Glu) rs1597565278
NM_000138.5(FBN1):c.306C>G (p.Cys102Trp) rs25388
NM_000138.5(FBN1):c.3073_3074insA (p.Phe1025fs) rs1566910251
NM_000138.5(FBN1):c.3076T>C (p.Phe1026Leu) rs2043541729
NM_000138.5(FBN1):c.3079A>G (p.Lys1027Glu) rs2141297017
NM_000138.5(FBN1):c.3081A>T (p.Lys1027Asn) rs1555398771
NM_000138.5(FBN1):c.3081del (p.Asp1028fs) rs1555398774
NM_000138.5(FBN1):c.3082+12C>G rs1225826092
NM_000138.5(FBN1):c.3082+12C>T rs1225826092
NM_000138.5(FBN1):c.3082+19C>T
NM_000138.5(FBN1):c.3082+1G>A rs886038996
NM_000138.5(FBN1):c.3082+2T>C rs2505557469
NM_000138.5(FBN1):c.3082+5A>G rs2505557438
NM_000138.5(FBN1):c.3082+9T>C rs746303949
NM_000138.5(FBN1):c.3082+9T>G rs746303949
NM_000138.5(FBN1):c.3083-18A>G rs2505553919
NM_000138.5(FBN1):c.3083-19C>T
NM_000138.5(FBN1):c.3083-1G>C rs2141295345
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 rs2505553903
NM_000138.5(FBN1):c.3083A>C (p.Asp1028Ala) rs1131691317
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.3085A>G (p.Ile1029Val) rs751214646
NM_000138.5(FBN1):c.3089_3092del (p.Asn1030fs) rs2505553844
NM_000138.5(FBN1):c.3089del (p.Asn1030fs) rs2505553870
NM_000138.5(FBN1):c.308C>T (p.Pro103Leu)
NM_000138.5(FBN1):c.3091G>T (p.Glu1031Ter) rs1555398685
NM_000138.5(FBN1):c.3093G>T (p.Glu1031Asp)
NM_000138.5(FBN1):c.3095G>A (p.Cys1032Tyr) rs137854481
NM_000138.5(FBN1):c.3096C>A (p.Cys1032Ter) rs1597564359
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=) rs1373206190
NM_000138.5(FBN1):c.3102G>A (p.Met1034Ile) rs1454893360
NM_000138.5(FBN1):c.3103A>G (p.Ile1035Val) rs2505553790
NM_000138.5(FBN1):c.3107C>G (p.Pro1036Arg) rs2043529137
NM_000138.5(FBN1):c.3107C>T (p.Pro1036Leu) rs2043529137
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.3115T>C (p.Cys1039Arg) rs2505553741
NM_000138.5(FBN1):c.3116G>A (p.Cys1039Tyr) rs2141295277
NM_000138.5(FBN1):c.3117C>T (p.Cys1039=)
NM_000138.5(FBN1):c.3122A>G (p.His1041Arg) rs2505553715
NM_000138.5(FBN1):c.3123C>A (p.His1041Gln) rs576395584
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.3124G>C (p.Gly1042Arg)
NM_000138.5(FBN1):c.3126C>T (p.Gly1042=) rs1566909928
NM_000138.5(FBN1):c.3126del (p.Lys1043fs) rs2505553681
NM_000138.5(FBN1):c.3128_3148del (p.Lys1043_Gly1049del) rs2505553574
NM_000138.5(FBN1):c.3129G>T (p.Lys1043Asn) rs749552425
NM_000138.5(FBN1):c.3130T>A (p.Cys1044Ser) rs2141295251
NM_000138.5(FBN1):c.3130T>G (p.Cys1044Gly) rs2141295251
NM_000138.5(FBN1):c.3131G>A (p.Cys1044Tyr) rs730880100
NM_000138.5(FBN1):c.3132C>A (p.Cys1044Ter) rs1555398677
NM_000138.5(FBN1):c.3133A>C (p.Arg1045=)
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.3140_3141del (p.Thr1047fs) rs193922197
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.3146G>C (p.Gly1049Ala)
NM_000138.5(FBN1):c.3149G>C (p.Ser1050Thr) rs987202268
NM_000138.5(FBN1):c.3149G>T (p.Ser1050Ile) 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.3157T>A (p.Cys1053Ser) rs1555398667
NM_000138.5(FBN1):c.3157T>G (p.Cys1053Gly) rs1555398667
NM_000138.5(FBN1):c.3158G>A (p.Cys1053Tyr) rs2043528397
NM_000138.5(FBN1):c.3159C>G (p.Cys1053Trp) rs886039054
NM_000138.5(FBN1):c.315_318dup (p.Ile107fs) rs1597631624
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.3165T>G (p.Cys1055Trp) rs1060501040
NM_000138.5(FBN1):c.3166del (p.Asp1056fs) rs1060501013
NM_000138.5(FBN1):c.3170G>A (p.Ser1057Asn)
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.3173del (p.Gly1058fs)
NM_000138.5(FBN1):c.3181del (p.Asp1062fs) rs2505553444
NM_000138.5(FBN1):c.3192del (p.Glu1065fs) rs1131692050
NM_000138.5(FBN1):c.3193del (p.Glu1065fs) rs193922198
NM_000138.5(FBN1):c.319A>G (p.Ile107Val) rs2140733930
NM_000138.5(FBN1):c.319A>T (p.Ile107Leu) rs2140733930
NM_000138.5(FBN1):c.31C>G (p.Leu11Val) rs762468661
NM_000138.5(FBN1):c.3201C>T (p.Asn1067=) rs1358163754
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.3206C>T (p.Thr1069Ile)
NM_000138.5(FBN1):c.3208+10T>C rs1597564173
NM_000138.5(FBN1):c.3208+11_3208+14dup
NM_000138.5(FBN1):c.3208+13G>A rs2043527577
NM_000138.5(FBN1):c.3208+19A>T
NM_000138.5(FBN1):c.3208+5G>A rs1555398657
NM_000138.5(FBN1):c.3208+5G>C rs1555398657
NM_000138.5(FBN1):c.3208+7T>A rs2505553313
NM_000138.5(FBN1):c.3209-11T>G rs976427727
NM_000138.5(FBN1):c.3209-13T>C rs1555398650
NM_000138.5(FBN1):c.3209-15G>A rs2505553005
NM_000138.5(FBN1):c.3209-19A>G rs2043526514
NM_000138.5(FBN1):c.3209-1G>C rs886038956
NM_000138.5(FBN1):c.3209-2A>C rs2043526284
NM_000138.5(FBN1):c.3209-2A>G
NM_000138.5(FBN1):c.3209-3del rs2141294880
NM_000138.5(FBN1):c.3209-6G>C rs942309418
NM_000138.5(FBN1):c.3209-7T>A rs1459153455
NM_000138.5(FBN1):c.3209-7del rs2043526375
NM_000138.5(FBN1):c.3209A>G (p.Asp1070Gly) rs1555398648
NM_000138.5(FBN1):c.320_321del (p.Ile107fs) rs730880108
NM_000138.5(FBN1):c.3210C>T (p.Asp1070=) rs754970748
NM_000138.5(FBN1):c.3211del (p.Ile1071fs) rs1597564038
NM_000138.5(FBN1):c.3212T>G (p.Ile1071Ser) rs1555398647
NM_000138.5(FBN1):c.3214G>C (p.Asp1072His) rs778867355
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) rs2505552887
NM_000138.5(FBN1):c.3220T>C (p.Cys1074Arg) rs137854465
NM_000138.5(FBN1):c.3223C>A (p.Arg1075Ser) rs186805359
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) rs2505552838
NM_000138.5(FBN1):c.3227dup (p.Ser1077fs) rs2141294808
NM_000138.5(FBN1):c.3228_3232dup (p.Pro1078fs) rs2141294789
NM_000138.5(FBN1):c.3229del (p.Ser1077fs)
NM_000138.5(FBN1):c.3235_3239del (p.Asp1079fs) rs1555398642
NM_000138.5(FBN1):c.3238C>T (p.Leu1080Phe) rs2505552756
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.3247del (p.Arg1083fs)
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>A (p.Cys1086Ser) rs1555398637
NM_000138.5(FBN1):c.3256T>C (p.Cys1086Arg) rs1555398637
NM_000138.5(FBN1):c.3256T>G (p.Cys1086Gly) rs1555398637
NM_000138.5(FBN1):c.3257G>A (p.Cys1086Tyr) rs137854484
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) rs2505552643
NM_000138.5(FBN1):c.3268C>T (p.Pro1090Ser) rs1555398633
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.3273G>A (p.Gly1091=) rs2505552577
NM_000138.5(FBN1):c.3274G>A (p.Asp1092Asn) rs2043525027
NM_000138.5(FBN1):c.3274del (p.Asp1092fs) rs397515788
NM_000138.5(FBN1):c.3284G>A (p.Cys1095Tyr) rs1597563934
NM_000138.5(FBN1):c.3284G>C (p.Cys1095Ser) rs1597563934
NM_000138.5(FBN1):c.3287A>G (p.Lys1096Arg) rs868304627
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.3297A>T (p.Glu1099Asp) rs1555398626
NM_000138.5(FBN1):c.3297del (p.Gly1100fs)
NM_000138.5(FBN1):c.3299G>A (p.Gly1100Asp) rs112547596
NM_000138.5(FBN1):c.3299G>C (p.Gly1100Ala) rs112547596
NM_000138.5(FBN1):c.3299G>T (p.Gly1100Val) rs112547596
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.3303T>A (p.Tyr1101Ter) rs1555398624
NM_000138.5(FBN1):c.3303T>C (p.Tyr1101=) rs1555398624
NM_000138.5(FBN1):c.3315C>G (p.Phe1105Leu) rs770232184
NM_000138.5(FBN1):c.3316A>G (p.Met1106Val)
NM_000138.5(FBN1):c.3318del (p.Met1106fs) rs2141294624
NM_000138.5(FBN1):c.3319A>G (p.Met1107Val) rs2505552430
NM_000138.5(FBN1):c.331T>C (p.Cys111Arg) rs2505775597
NM_000138.5(FBN1):c.3320_3321del (p.Met1107fs) rs2141294618
NM_000138.5(FBN1):c.3320_3323dup (p.Met1108fs) rs1555398622
NM_000138.5(FBN1):c.3321G>A (p.Met1107Ile) rs2043524516
NM_000138.5(FBN1):c.3331T>G (p.Cys1111Gly) rs2141294587
NM_000138.5(FBN1):c.3332G>A (p.Cys1111Tyr) rs1566909766
NM_000138.5(FBN1):c.3332G>C (p.Cys1111Ser) rs1566909766
NM_000138.5(FBN1):c.3337+12A>G
NM_000138.5(FBN1):c.3337+13del rs563620440
NM_000138.5(FBN1):c.3337+15A>T rs2505552303
NM_000138.5(FBN1):c.3337+19G>A
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+1dup rs1566909762
NM_000138.5(FBN1):c.3337+2T>C rs2141294575
NM_000138.5(FBN1):c.3338-16C>A
NM_000138.5(FBN1):c.3338-16C>T rs762130293
NM_000138.5(FBN1):c.3338-18del rs2505550767
NM_000138.5(FBN1):c.3338-1G>C rs2141293811
NM_000138.5(FBN1):c.3338-2A>G rs2141293812
NM_000138.5(FBN1):c.3338A>G (p.Asp1113Gly) rs140597
NM_000138.5(FBN1):c.3343G>T (p.Asp1115Tyr) rs2141293800
NM_000138.5(FBN1):c.3344A>G (p.Asp1115Gly) rs794728203
NM_000138.5(FBN1):c.3346G>A (p.Glu1116Lys) rs1555398582
NM_000138.5(FBN1):c.3347A>G (p.Glu1116Gly) rs1566909547
NM_000138.5(FBN1):c.3347A>T (p.Glu1116Val)
NM_000138.5(FBN1):c.3347_3348del (p.Glu1116fs) rs1555398580
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.3357A>G (p.Arg1119=)
NM_000138.5(FBN1):c.3362del (p.Pro1121fs) rs2505550546
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.3370T>C (p.Cys1124Arg) rs2141293730
NM_000138.5(FBN1):c.3370T>G (p.Cys1124Gly) rs2141293730
NM_000138.5(FBN1):c.3371G>C (p.Cys1124Ser) rs2141293726
NM_000138.5(FBN1):c.3372_3376del (p.Cys1124fs) rs1597563280
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.3375dup (p.Gly1126fs) rs1597563287
NM_000138.5(FBN1):c.3379G>A (p.Gly1127Ser) rs137854468
NM_000138.5(FBN1):c.3379G>T (p.Gly1127Cys)
NM_000138.5(FBN1):c.3380G>A (p.Gly1127Asp) rs1064794882
NM_000138.5(FBN1):c.3381T>C (p.Gly1127=)
NM_000138.5(FBN1):c.3382G>A (p.Val1128Ile)
NM_000138.5(FBN1):c.3382G>C (p.Val1128Leu) rs1555398573
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.3388del (p.His1130fs) rs1555398572
NM_000138.5(FBN1):c.338C>G (p.Ser113Cys) rs869025403
NM_000138.5(FBN1):c.3390T>C (p.His1130=) rs2505550376
NM_000138.5(FBN1):c.3391A>T (p.Asn1131Tyr) rs137854473
NM_000138.5(FBN1):c.3392A>G (p.Asn1131Ser) rs397515790
NM_000138.5(FBN1):c.3393C>A (p.Asn1131Lys) rs775565475
NM_000138.5(FBN1):c.3395_3396del (p.Thr1132fs) rs2141293662
NM_000138.5(FBN1):c.3396A>G (p.Thr1132=) rs2505550317
NM_000138.5(FBN1):c.3398_3399del (p.Glu1133fs) rs1597563234
NM_000138.5(FBN1):c.3398_3408del (p.Glu1133fs) rs1555398566
NM_000138.5(FBN1):c.339C>T (p.Ser113=) rs2505775568
NM_000138.5(FBN1):c.33G>A (p.Leu11=) rs1164486664
NM_000138.5(FBN1):c.3402A>G (p.Gly1134=) rs2043517714
NM_000138.5(FBN1):c.3407_3431dup (p.His1144delinsGlnProLeuTer) rs2505550140
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.3412T>C (p.Cys1138Arg) rs1131691806
NM_000138.5(FBN1):c.3413G>A (p.Cys1138Tyr) rs397515791
NM_000138.5(FBN1):c.3413G>C (p.Cys1138Ser) rs397515791
NM_000138.5(FBN1):c.3413G>T (p.Cys1138Phe) rs397515791
NM_000138.5(FBN1):c.3419G>A (p.Cys1140Tyr) rs1060501075
NM_000138.5(FBN1):c.3419G>T (p.Cys1140Phe) rs1060501075
NM_000138.5(FBN1):c.341G>T (p.Arg114Ile)
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.3429C>T (p.Gly1143=) rs151232024
NM_000138.5(FBN1):c.3431A>G (p.His1144Arg) rs2505550134
NM_000138.5(FBN1):c.3432dup (p.Gln1145fs) rs1566909483
NM_000138.5(FBN1):c.3443C>T (p.Pro1148Leu)
NM_000138.5(FBN1):c.3444del (p.Asn1149fs) rs1555398551
NM_000138.5(FBN1):c.3446A>C (p.Asn1149Thr)
NM_000138.5(FBN1):c.3447C>T (p.Asn1149=) rs2505550083
NM_000138.5(FBN1):c.3450C>A (p.Ile1150=) rs1489879961
NM_000138.5(FBN1):c.3450C>G (p.Ile1150Met) rs1489879961
NM_000138.5(FBN1):c.3456G>C (p.Ala1152=) rs777442762
NM_000138.5(FBN1):c.3457T>C (p.Cys1153Arg) rs886038877
NM_000138.5(FBN1):c.3458G>A (p.Cys1153Tyr) rs140599
NM_000138.5(FBN1):c.3458G>T (p.Cys1153Phe) rs140599
NM_000138.5(FBN1):c.3459dup (p.Ile1154fs)
NM_000138.5(FBN1):c.345C>T (p.Ser115=) rs2505775553
NM_000138.5(FBN1):c.345del (p.Ile116fs) rs2505775559
NM_000138.5(FBN1):c.346+1G>A
NM_000138.5(FBN1):c.3460A>G (p.Ile1154Val) rs1043235195
NM_000138.5(FBN1):c.3460A>T (p.Ile1154Phe) rs1043235195
NM_000138.5(FBN1):c.3462C>A (p.Ile1154=) rs144339604
NM_000138.5(FBN1):c.3463+15T>A rs1597563076
NM_000138.5(FBN1):c.3463+1G>A rs397515792
NM_000138.5(FBN1):c.3463+1G>T rs397515792
NM_000138.5(FBN1):c.3464-11T>C rs767786832
NM_000138.5(FBN1):c.3464-11T>G rs767786832
NM_000138.5(FBN1):c.3464-16_3464-14del rs775944757
NM_000138.5(FBN1):c.3464-1G>A rs2141293336
NM_000138.5(FBN1):c.3464-1G>C
NM_000138.5(FBN1):c.3464-1del rs2141293337
NM_000138.5(FBN1):c.3464-23_3464-20del
NM_000138.5(FBN1):c.3464-6C>A rs375596551
NM_000138.5(FBN1):c.3464-8C>G rs2505549686
NM_000138.5(FBN1):c.3464-8C>T rs2505549686
NM_000138.5(FBN1):c.3464A>G (p.Asp1155Gly) rs2141293332
NM_000138.5(FBN1):c.3464A>T (p.Asp1155Val) rs2141293332
NM_000138.5(FBN1):c.3466_3467del (p.Ile1156fs) rs2505549609
NM_000138.5(FBN1):c.3467T>A (p.Ile1156Asn)
NM_000138.5(FBN1):c.347-12T>C
NM_000138.5(FBN1):c.347-19CTT[2] rs756583965
NM_000138.5(FBN1):c.347-1G>C rs2505761195
NM_000138.5(FBN1):c.347-2A>C rs1555405056
NM_000138.5(FBN1):c.347-5del rs561135562
NM_000138.5(FBN1):c.347-5dup rs561135562
NM_000138.5(FBN1):c.3471T>C (p.Asn1157=) rs1468396876
NM_000138.5(FBN1):c.3473A>G (p.Glu1158Gly) rs1597562926
NM_000138.5(FBN1):c.3474A>G (p.Glu1158=)
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.3478G>T (p.Glu1160Ter) rs193922199
NM_000138.5(FBN1):c.3487G>A (p.Ala1163Thr) rs1481457003
NM_000138.5(FBN1):c.3487_3488dup (p.Leu1165fs) rs2043515102
NM_000138.5(FBN1):c.3494T>C (p.Leu1165Pro) rs2505549476
NM_000138.5(FBN1):c.3497G>A (p.Cys1166Tyr) rs2043515038
NM_000138.5(FBN1):c.3498C>A (p.Cys1166Ter) rs2505549451
NM_000138.5(FBN1):c.34G>T (p.Gly12Ter) rs2505822301
NM_000138.5(FBN1):c.3500C>A (p.Pro1167His) rs2505549435
NM_000138.5(FBN1):c.3503A>T (p.Asn1168Ile) rs776667707
NM_000138.5(FBN1):c.3505G>C (p.Gly1169Arg) rs2505549396
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.3508del (p.Arg1170fs) rs2141293265
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.3513C>G (p.Cys1171Trp) rs775417975
NM_000138.5(FBN1):c.3514dup (p.Val1172fs)
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.3519C>A (p.Asn1173Lys)
NM_000138.5(FBN1):c.3521T>C (p.Leu1174Pro) rs1555398517
NM_000138.5(FBN1):c.3525A>G (p.Ile1175Met) rs2505549263
NM_000138.5(FBN1):c.3527G>A (p.Gly1176Glu)
NM_000138.5(FBN1):c.3528G>A (p.Gly1176=) rs902201289
NM_000138.5(FBN1):c.3529A>T (p.Lys1177Ter) rs2505549244
NM_000138.5(FBN1):c.3533A>G (p.Tyr1178Cys) rs1555398515
NM_000138.5(FBN1):c.3534dup (p.Gln1179fs) rs2141293209
NM_000138.5(FBN1):c.3535C>T (p.Gln1179Ter) rs1364210063
NM_000138.5(FBN1):c.3537G>A (p.Gln1179=) rs2043514528
NM_000138.5(FBN1):c.3538T>C (p.Cys1180Arg) rs2141293199
NM_000138.5(FBN1):c.3539G>A (p.Cys1180Tyr) rs1555398513
NM_000138.5(FBN1):c.3542C>T (p.Ala1181Val) rs748716804
NM_000138.5(FBN1):c.3545G>A (p.Cys1182Tyr) rs1597562812
NM_000138.5(FBN1):c.3545_3548dup (p.Asn1183fs) rs2141293186
NM_000138.5(FBN1):c.3546C>A (p.Cys1182Ter) rs727504411
NM_000138.5(FBN1):c.3554G>A (p.Gly1185Asp) rs1555398512
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.3559dup (p.His1187fs) rs1555398508
NM_000138.5(FBN1):c.355T>C (p.Cys119Arg) rs2044551443
NM_000138.5(FBN1):c.3568C>A (p.Pro1190Thr) rs2505549061
NM_000138.5(FBN1):c.3568C>G (p.Pro1190Ala)
NM_000138.5(FBN1):c.3569C>A (p.Pro1190His) rs2043514137
NM_000138.5(FBN1):c.3569_3570delinsAA (p.Pro1190Gln) rs2043514115
NM_000138.5(FBN1):c.356G>A (p.Cys119Tyr) rs111604463
NM_000138.5(FBN1):c.3570C>A (p.Pro1190=) rs188317014
NM_000138.5(FBN1):c.3572A>G (p.Asp1191Gly) rs2505549018
NM_000138.5(FBN1):c.3573T>C (p.Asp1191=) rs150912619
NM_000138.5(FBN1):c.3574A>G (p.Arg1192Gly) rs2043513994
NM_000138.5(FBN1):c.3577C>A (p.Leu1193Ile)
NM_000138.5(FBN1):c.3578T>C (p.Leu1193Pro) rs2141293110
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.3589+11TTTTA[7] rs72158035
NM_000138.5(FBN1):c.3589+11TTTTA[8] rs72158035
NM_000138.5(FBN1):c.3589+1G>T rs1555398501
NM_000138.5(FBN1):c.3589+1del rs2043513684
NM_000138.5(FBN1):c.3589+3A>G rs2043513649
NM_000138.5(FBN1):c.3589G>A (p.Asp1197Asn) rs397515793
NM_000138.5(FBN1):c.3589G>C (p.Asp1197His) 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 rs1372563342
NM_000138.5(FBN1):c.3590-2A>G rs2043498977
NM_000138.5(FBN1):c.3590-9T>A rs2505545314
NM_000138.5(FBN1):c.3590A>G (p.Asp1197Gly) rs112025387
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) rs2505545212
NM_000138.5(FBN1):c.3599A>T (p.Glu1200Val) rs1566908956
NM_000138.5(FBN1):c.359A>C (p.Asn120Thr)
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.3600A>G (p.Glu1200=) rs2505545198
NM_000138.5(FBN1):c.3602G>A (p.Cys1201Tyr) rs1555398413
NM_000138.5(FBN1):c.3603C>A (p.Cys1201Ter) rs2505545181
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.3609A>G (p.Ile1203Met) rs2505545138
NM_000138.5(FBN1):c.3613_3616del (p.Asn1205fs) rs2141291389
NM_000138.5(FBN1):c.3614A>G (p.Asn1205Ser) rs794728207
NM_000138.5(FBN1):c.3616G>A (p.Gly1206Ser) rs1555398411
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>A (p.Gly1206Asp) rs1555398409
NM_000138.5(FBN1):c.3617G>T (p.Gly1206Val) rs1555398409
NM_000138.5(FBN1):c.361A>G (p.Ile121Val) rs2505761160
NM_000138.5(FBN1):c.3620G>C (p.Gly1207Ala)
NM_000138.5(FBN1):c.3623G>T (p.Cys1208Phe) rs1555398406
NM_000138.5(FBN1):c.3623del (p.Cys1208fs) rs1555398407
NM_000138.5(FBN1):c.3624T>A (p.Cys1208Ter) rs765842423
NM_000138.5(FBN1):c.3624T>G (p.Cys1208Trp) rs765842423
NM_000138.5(FBN1):c.3625_3627dup (p.Glu1209_Thr1210insGlu) rs2505545066
NM_000138.5(FBN1):c.3626A>G (p.Glu1209Gly)
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) rs2505545043
NM_000138.5(FBN1):c.3632_3634del (p.Phe1211del) rs1555398404
NM_000138.5(FBN1):c.3634T>C (p.Cys1212Arg) rs2043497933
NM_000138.5(FBN1):c.3635G>A (p.Cys1212Tyr) rs1057522908
NM_000138.5(FBN1):c.3640_3641del (p.Asn1214fs) rs2141291345
NM_000138.5(FBN1):c.3641A>G (p.Asn1214Ser) rs1555398401
NM_000138.5(FBN1):c.3643T>C (p.Ser1215Pro) rs2505544995
NM_000138.5(FBN1):c.3644C>T (p.Ser1215Phe) rs2505544988
NM_000138.5(FBN1):c.3644_3645del (p.Asn1214_Ser1215insTer) rs2505544979
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.3650G>T (p.Gly1217Val)
NM_000138.5(FBN1):c.3651C>A (p.Gly1217=) rs2505544945
NM_000138.5(FBN1):c.3656A>C (p.Tyr1219Ser) rs1555398394
NM_000138.5(FBN1):c.3656A>G (p.Tyr1219Cys) rs1555398394
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) rs2505544882
NM_000138.5(FBN1):c.3662G>A (p.Cys1221Tyr) rs137854483
NM_000138.5(FBN1):c.3668G>A (p.Cys1223Tyr) rs137854469
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.3693T>C (p.Pro1231=) rs1364910158
NM_000138.5(FBN1):c.3693_3697del (p.Asp1232fs) rs2505544729
NM_000138.5(FBN1):c.3694G>A (p.Asp1232Asn) rs2043497067
NM_000138.5(FBN1):c.3696C>G (p.Asp1232Glu)
NM_000138.5(FBN1):c.3697C>T (p.Gln1233Ter) rs2505544723
NM_000138.5(FBN1):c.3699_3702dup (p.Ser1235fs)
NM_000138.5(FBN1):c.3701G>A (p.Arg1234Lys)
NM_000138.5(FBN1):c.3702A>T (p.Arg1234Ser) rs2505544706
NM_000138.5(FBN1):c.3703T>C (p.Ser1235Pro) rs1555398382
NM_000138.5(FBN1):c.3704C>G (p.Ser1235Ter) rs2141291261
NM_000138.5(FBN1):c.3704del (p.Ser1235fs) rs2505544689
NM_000138.5(FBN1):c.3705A>G (p.Ser1235=) rs1294094542
NM_000138.5(FBN1):c.3706T>C (p.Cys1236Arg) rs1555398380
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.3709A>G (p.Thr1237Ala) rs1459223225
NM_000138.5(FBN1):c.3712+16C>T rs2505544540
NM_000138.5(FBN1):c.3712+1G>T rs794728209
NM_000138.5(FBN1):c.3712+4A>T
NM_000138.5(FBN1):c.3712+9G>A 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 rs1377758893
NM_000138.5(FBN1):c.3713-1G>T rs2141289776
NM_000138.5(FBN1):c.3713-2A>C rs1131691604
NM_000138.5(FBN1):c.3713-2A>G
NM_000138.5(FBN1):c.3713-4G>A rs2141289788
NM_000138.5(FBN1):c.371T>C (p.Met124Thr) rs2505761126
NM_000138.5(FBN1):c.3721G>A (p.Glu1241Lys) rs2505541230
NM_000138.5(FBN1):c.3721_3732del (p.Glu1241_Asp1244del) rs2505541153
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.3726T>G (p.Cys1242Trp) rs2505541189
NM_000138.5(FBN1):c.372G>A (p.Met124Ile) rs1555405050
NM_000138.5(FBN1):c.3735T>C (p.Asn1245=) rs2505541144
NM_000138.5(FBN1):c.3740A>G (p.Asn1247Ser) rs568625812
NM_000138.5(FBN1):c.3745T>G (p.Cys1249Gly) rs2505541083
NM_000138.5(FBN1):c.3746G>A (p.Cys1249Tyr) rs137854458
NM_000138.5(FBN1):c.3746G>C (p.Cys1249Ser) rs137854458
NM_000138.5(FBN1):c.3748G>T (p.Asp1250Tyr) rs1555398288
NM_000138.5(FBN1):c.3756T>G (p.Gly1252=)
NM_000138.5(FBN1):c.3757C>T (p.Gln1253Ter) rs1131691311
NM_000138.5(FBN1):c.3758A>C (p.Gln1253Pro) rs2505541017
NM_000138.5(FBN1):c.3759G>C (p.Gln1253His) rs2141289701
NM_000138.5(FBN1):c.3759del (p.Gln1253fs) rs1555398287
NM_000138.5(FBN1):c.3760T>C (p.Cys1254Arg)
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.376G>T (p.Gly126Ter) rs1597625734
NM_000138.5(FBN1):c.3772C>T (p.Pro1258Ser) rs397515795
NM_000138.5(FBN1):c.3773C>T (p.Pro1258Leu) rs2043485113
NM_000138.5(FBN1):c.3778G>T (p.Glu1260Ter) rs1555398283
NM_000138.5(FBN1):c.3783del (p.Glu1260_Tyr1261insTer) rs1555398282
NM_000138.5(FBN1):c.3786G>A (p.Arg1262=) rs1555398280
NM_000138.5(FBN1):c.3786G>T (p.Arg1262Ser) rs1555398280
NM_000138.5(FBN1):c.3788G>T (p.Cys1263Phe) rs2505540873
NM_000138.5(FBN1):c.378A>C (p.Gly126=) rs149611106
NM_000138.5(FBN1):c.3793T>C (p.Cys1265Arg) rs137854474
NM_000138.5(FBN1):c.3793_3799del (p.Cys1265fs) rs1555398276
NM_000138.5(FBN1):c.3794G>A (p.Cys1265Tyr) rs1555398279
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.3795T>A (p.Cys1265Ter) rs1555398278
NM_000138.5(FBN1):c.379G>T (p.Gly127Cys) rs1057524165
NM_000138.5(FBN1):c.3801T>C (p.Asp1267=) rs769208631
NM_000138.5(FBN1):c.3808A>T (p.Met1270Leu) rs1173856099
NM_000138.5(FBN1):c.380G>A (p.Gly127Asp) rs1566935524
NM_000138.5(FBN1):c.380G>T (p.Gly127Val) rs1566935524
NM_000138.5(FBN1):c.3815C>A (p.Ser1272Tyr) rs1555398270
NM_000138.5(FBN1):c.3816T>C (p.Ser1272=) rs2505540706
NM_000138.5(FBN1):c.3816del (p.Glu1273fs) rs2141289577
NM_000138.5(FBN1):c.3823A>G (p.Met1275Val) rs747414686
NM_000138.5(FBN1):c.3823_3830del (p.Met1275fs) rs2505540666
NM_000138.5(FBN1):c.3824T>C (p.Met1275Thr) rs2505540674
NM_000138.5(FBN1):c.382A>C (p.Ser128Arg) rs2505761081
NM_000138.5(FBN1):c.3833G>A (p.Cys1278Tyr) rs2505540643
NM_000138.5(FBN1):c.3833G>C (p.Cys1278Ser) rs2505540643
NM_000138.5(FBN1):c.3837A>C (p.Val1279=) rs59007872
NM_000138.5(FBN1):c.3838+12A>T
NM_000138.5(FBN1):c.3838+16A>G rs567892710
NM_000138.5(FBN1):c.3838+18A>T rs2505540535
NM_000138.5(FBN1):c.3838+2T>C rs2505540605
NM_000138.5(FBN1):c.3838+3A>T rs1555398265
NM_000138.5(FBN1):c.3838+9del
NM_000138.5(FBN1):c.3838G>A (p.Asp1280Asn) rs794728210
NM_000138.5(FBN1):c.3839-15A>C rs1473358699
NM_000138.5(FBN1):c.3839-18A>G
NM_000138.5(FBN1):c.3839-19T>C rs2505533956
NM_000138.5(FBN1):c.3839-20A>G rs891189448
NM_000138.5(FBN1):c.3839A>T (p.Asp1280Val) rs1555398179
NM_000138.5(FBN1):c.3839_3846del (p.Asp1280fs) rs113603747
NM_000138.5(FBN1):c.3843C>A (p.Val1281=) rs2505533890
NM_000138.5(FBN1):c.3847G>A (p.Glu1283Lys) rs1555398176
NM_000138.5(FBN1):c.3848A>C (p.Glu1283Ala) rs397515796
NM_000138.5(FBN1):c.3848A>T (p.Glu1283Val) rs397515796
NM_000138.5(FBN1):c.3849G>A (p.Glu1283=) rs2505533834
NM_000138.5(FBN1):c.3849del (p.Glu1283fs) rs1555398174
NM_000138.5(FBN1):c.3850T>A (p.Cys1284Ser) rs2043467154
NM_000138.5(FBN1):c.3850T>C (p.Cys1284Arg) rs2043467154
NM_000138.5(FBN1):c.3850dup (p.Cys1284fs) rs2505533825
NM_000138.5(FBN1):c.3851G>A (p.Cys1284Tyr) rs1555398173
NM_000138.5(FBN1):c.3853G>A (p.Asp1285Asn) rs1555398171
NM_000138.5(FBN1):c.385T>G (p.Cys129Gly) rs199474693
NM_000138.5(FBN1):c.3869T>C (p.Ile1290Thr) rs2043467019
NM_000138.5(FBN1):c.386G>A (p.Cys129Tyr) rs1566935517
NM_000138.5(FBN1):c.386G>T (p.Cys129Phe) rs1566935517
NM_000138.5(FBN1):c.3870C>T (p.Ile1290=) rs2043466994
NM_000138.5(FBN1):c.3871del (p.Cys1291fs) rs2141287465
NM_000138.5(FBN1):c.3874del (p.Cys1291_Leu1292insTer) rs1597559048
NM_000138.5(FBN1):c.3875T>C (p.Leu1292Pro) rs2141287453
NM_000138.5(FBN1):c.3876A>C (p.Leu1292=) rs1343091164
NM_000138.5(FBN1):c.3878G>A (p.Ser1293Asn) rs775904104
NM_000138.5(FBN1):c.3878_3891del (p.Ser1293fs) rs2505533607
NM_000138.5(FBN1):c.3881G>T (p.Gly1294Val) rs1060501064
NM_000138.5(FBN1):c.3885del (p.Cys1296fs)
NM_000138.5(FBN1):c.3886T>C (p.Cys1296Arg) rs397515797
NM_000138.5(FBN1):c.3887G>A (p.Cys1296Tyr)
NM_000138.5(FBN1):c.3892A>C (p.Asn1298His)
NM_000138.5(FBN1):c.3893A>C (p.Asn1298Thr) rs2505533586
NM_000138.5(FBN1):c.3893del (p.Asn1298fs) rs869025425
NM_000138.5(FBN1):c.3893dup (p.Asn1298fs) rs869025425
NM_000138.5(FBN1):c.3895dup (p.Thr1299fs) rs1555398160
NM_000138.5(FBN1):c.3897G>C (p.Thr1299=) rs771283158
NM_000138.5(FBN1):c.3900A>G (p.Lys1300=)
NM_000138.5(FBN1):c.3900_3903del (p.Lys1300fs) rs2043466554
NM_000138.5(FBN1):c.3901_3904dup (p.Ser1302fs) rs2141287379
NM_000138.5(FBN1):c.3902G>C (p.Gly1301Ala) rs1566908083
NM_000138.5(FBN1):c.3902G>T (p.Gly1301Val) rs1566908083
NM_000138.5(FBN1):c.3902del (p.Gly1301fs) rs2141287396
NM_000138.5(FBN1):c.3903C>T (p.Gly1301=) rs1018707026
NM_000138.5(FBN1):c.3904T>C (p.Ser1302Pro) rs2141287376
NM_000138.5(FBN1):c.3904_3915del (p.Ser1302_Cys1305del) rs2505533459
NM_000138.5(FBN1):c.3905C>T (p.Ser1302Leu) rs777932343
NM_000138.5(FBN1):c.3906dup (p.Phe1303fs) rs2141287368
NM_000138.5(FBN1):c.390del (p.Ser130fs) rs1555405045
NM_000138.5(FBN1):c.3912C>T (p.Ile1304=) rs2505533470
NM_000138.5(FBN1):c.3914G>A (p.Cys1305Tyr) rs2505533464
NM_000138.5(FBN1):c.3915C>A (p.Cys1305Ter) rs1555398152
NM_000138.5(FBN1):c.3920G>A (p.Cys1307Tyr) rs2505533433
NM_000138.5(FBN1):c.3921T>G (p.Cys1307Trp) rs2043466446
NM_000138.5(FBN1):c.3921_3922del (p.Cys1307_Asp1308delinsTer) rs2505533428
NM_000138.5(FBN1):c.3925A>G (p.Met1309Val) rs2043466374
NM_000138.5(FBN1):c.3925dup (p.Met1309fs) rs2505533405
NM_000138.5(FBN1):c.3928G>A (p.Gly1310Ser) rs2043466325
NM_000138.5(FBN1):c.3928G>C (p.Gly1310Arg) rs2043466325
NM_000138.5(FBN1):c.3928G>T (p.Gly1310Cys) rs2043466325
NM_000138.5(FBN1):c.3929G>A (p.Gly1310Asp)
NM_000138.5(FBN1):c.3929dup (p.Tyr1311fs) rs2141287336
NM_000138.5(FBN1):c.392_401dup (p.Cys134Ter) rs2140718078
NM_000138.5(FBN1):c.3932A>G (p.Tyr1311Cys) rs1555398148
NM_000138.5(FBN1):c.3936C>A (p.Ser1312=) rs779913610
NM_000138.5(FBN1):c.3938G>C (p.Gly1313Ala) rs2505533328
NM_000138.5(FBN1):c.3939C>G (p.Gly1313=) rs1597558962
NM_000138.5(FBN1):c.3939C>T (p.Gly1313=) rs1597558962
NM_000138.5(FBN1):c.3941A>G (p.Lys1314Arg) rs2505533316
NM_000138.5(FBN1):c.3944A>G (p.Lys1315Arg) rs2505533310
NM_000138.5(FBN1):c.3945del (p.Gly1316fs) rs1555398144
NM_000138.5(FBN1):c.3945dup (p.Gly1316fs) rs1555398144
NM_000138.5(FBN1):c.3947_3948delinsT (p.Gly1316fs) rs1555398139
NM_000138.5(FBN1):c.3950A>G (p.Lys1317Arg) rs2505533266
NM_000138.5(FBN1):c.3951A>G (p.Lys1317=) rs2043466115
NM_000138.5(FBN1):c.3952dup (p.Thr1318fs) rs1566908063
NM_000138.5(FBN1):c.3956G>C (p.Gly1319Ala) rs2505533233
NM_000138.5(FBN1):c.3958T>C (p.Cys1320Arg) rs1597558920
NM_000138.5(FBN1):c.3959G>C (p.Cys1320Ser) rs113393517
NM_000138.5(FBN1):c.3959G>T (p.Cys1320Phe) rs113393517
NM_000138.5(FBN1):c.3961A>G (p.Thr1321Ala)
NM_000138.5(FBN1):c.3962C>T (p.Thr1321Ile) rs750219182
NM_000138.5(FBN1):c.3962dup (p.Asp1322fs) rs1555398137
NM_000138.5(FBN1):c.3963A>G (p.Thr1321=) rs140648
NM_000138.5(FBN1):c.3963A>T (p.Thr1321=) rs140648
NM_000138.5(FBN1):c.3964+12C>G rs371986991
NM_000138.5(FBN1):c.3964+14A>C
NM_000138.5(FBN1):c.3964+16dup
NM_000138.5(FBN1):c.3964+2T>C rs2505533141
NM_000138.5(FBN1):c.3964+5G>A
NM_000138.5(FBN1):c.3964+5G>T rs2043465883
NM_000138.5(FBN1):c.3964+9G>T rs1412748899
NM_000138.5(FBN1):c.3964G>A (p.Asp1322Asn) rs2505533162
NM_000138.5(FBN1):c.3964G>T (p.Asp1322Tyr) rs2505533162
NM_000138.5(FBN1):c.3965-1081A>G
NM_000138.5(FBN1):c.3965-15dup rs2043405703
NM_000138.5(FBN1):c.3965-17A>G
NM_000138.5(FBN1):c.3965-2A>T rs387906547
NM_000138.5(FBN1):c.3965-5T>A rs1566906567
NM_000138.5(FBN1):c.3965A>G (p.Asp1322Gly) rs1555397744
NM_000138.5(FBN1):c.3966C>G (p.Asp1322Glu) rs2141280317
NM_000138.5(FBN1):c.3966C>T (p.Asp1322=) rs2141280317
NM_000138.5(FBN1):c.3969C>A (p.Ile1323=) rs536546914
NM_000138.5(FBN1):c.3969C>G (p.Ile1323Met)
NM_000138.5(FBN1):c.3970A>G (p.Asn1324Asp)
NM_000138.5(FBN1):c.3971A>C (p.Asn1324Thr) rs778709645
NM_000138.5(FBN1):c.3971A>G (p.Asn1324Ser)
NM_000138.5(FBN1):c.3972T>C (p.Asn1324=) rs2043405375
NM_000138.5(FBN1):c.3973G>T (p.Glu1325Ter) rs2141280296
NM_000138.5(FBN1):c.3973dup (p.Glu1325fs) rs1555397743
NM_000138.5(FBN1):c.3974A>C (p.Glu1325Ala) rs794728331
NM_000138.5(FBN1):c.3975A>C (p.Glu1325Asp) rs1555397741
NM_000138.5(FBN1):c.3976T>C (p.Cys1326Arg) rs2043405278
NM_000138.5(FBN1):c.3977G>A (p.Cys1326Tyr) rs1555397738
NM_000138.5(FBN1):c.3977del (p.Cys1326fs) rs2141280278
NM_000138.5(FBN1):c.3978T>G (p.Cys1326Trp)
NM_000138.5(FBN1):c.3984T>C (p.Ile1328=) rs2505518938
NM_000138.5(FBN1):c.3988G>C (p.Ala1330Pro) rs1272869223
NM_000138.5(FBN1):c.3989C>T (p.Ala1330Val) rs2505518905
NM_000138.5(FBN1):c.3993del (p.His1331fs) rs1555397736
NM_000138.5(FBN1):c.3997T>C (p.Cys1333Arg)
NM_000138.5(FBN1):c.3997T>G (p.Cys1333Gly)
NM_000138.5(FBN1):c.3998G>A (p.Cys1333Tyr) rs2043405073
NM_000138.5(FBN1):c.3999_4000del (p.Cys1333fs) rs2505518875
NM_000138.5(FBN1):c.3G>A (p.Met1Ile) rs886039072
NM_000138.5(FBN1):c.4002_4003del (p.Lys1335fs) rs2141280251
NM_000138.5(FBN1):c.4003_4004insCACAACTCTGGCA (p.Lys1335fs) rs1555397733
NM_000138.5(FBN1):c.4007_4010del (p.His1336fs) rs2505518828
NM_000138.5(FBN1):c.4009G>C (p.Ala1337Pro) rs753648789
NM_000138.5(FBN1):c.400T>C (p.Cys134Arg) rs1555405044
NM_000138.5(FBN1):c.4011del (p.Val1338fs) rs2043404959
NM_000138.5(FBN1):c.4011dup (p.Val1338fs) rs2505518809
NM_000138.5(FBN1):c.4014A>G (p.Val1338=) rs763716418
NM_000138.5(FBN1):c.4016G>A (p.Cys1339Tyr) rs397515798
NM_000138.5(FBN1):c.4016G>C (p.Cys1339Ser) rs397515798
NM_000138.5(FBN1):c.401G>A (p.Cys134Tyr) rs1555405043
NM_000138.5(FBN1):c.4020del (p.Asn1341fs) rs2141280222
NM_000138.5(FBN1):c.4022A>G (p.Asn1341Ser) rs140638
NM_000138.5(FBN1):c.4023T>C (p.Asn1341=) rs2043404831
NM_000138.5(FBN1):c.4024dup (p.Thr1342fs) rs2505518741
NM_000138.5(FBN1):c.4029del (p.Gly1344fs) rs2043404761
NM_000138.5(FBN1):c.4031G>A (p.Gly1344Glu) rs1555397725
NM_000138.5(FBN1):c.4032_4033del (p.Ser1345fs) rs1555397723
NM_000138.5(FBN1):c.4033A>C (p.Ser1345Arg) rs2505518689
NM_000138.5(FBN1):c.4034G>T (p.Ser1345Ile) rs767079851
NM_000138.5(FBN1):c.4035C>T (p.Ser1345=) rs1400471354
NM_000138.5(FBN1):c.4036T>G (p.Phe1346Val) rs1566906537
NM_000138.5(FBN1):c.4036_4037del (p.Phe1346fs)
NM_000138.5(FBN1):c.4041del (p.Lys1347fs)
NM_000138.5(FBN1):c.4042T>C (p.Cys1348Arg) rs2141280160
NM_000138.5(FBN1):c.4043G>A (p.Cys1348Tyr) rs1555397720
NM_000138.5(FBN1):c.4043G>T (p.Cys1348Phe) rs1555397720
NM_000138.5(FBN1):c.4044T>G (p.Cys1348Trp) rs1555397719
NM_000138.5(FBN1):c.4048T>A (p.Cys1350Ser) rs397515799
NM_000138.5(FBN1):c.4048T>C (p.Cys1350Arg) rs397515799
NM_000138.5(FBN1):c.4048T>G (p.Cys1350Gly) rs397515799
NM_000138.5(FBN1):c.4049G>A (p.Cys1350Tyr) rs1555397718
NM_000138.5(FBN1):c.4049G>T (p.Cys1350Phe) rs1555397718
NM_000138.5(FBN1):c.4050C>A (p.Cys1350Ter) rs201058219
NM_000138.5(FBN1):c.4056del (p.Trp1354fs) rs1555397713
NM_000138.5(FBN1):c.4057G>C (p.Gly1353Arg) rs187177496
NM_000138.5(FBN1):c.4057G>T (p.Gly1353Trp) rs187177496
NM_000138.5(FBN1):c.4061G>A (p.Trp1354Ter) rs1060501039
NM_000138.5(FBN1):c.4064T>A (p.Ile1355Asn)
NM_000138.5(FBN1):c.4064T>C (p.Ile1355Thr)
NM_000138.5(FBN1):c.4068A>C (p.Gly1356=) rs1555397706
NM_000138.5(FBN1):c.406T>A (p.Cys136Ser) rs1555405041
NM_000138.5(FBN1):c.406T>C (p.Cys136Arg) rs1555405041
NM_000138.5(FBN1):c.406T>G (p.Cys136Gly) rs1555405041
NM_000138.5(FBN1):c.406dup (p.Cys136fs) rs1555405042
NM_000138.5(FBN1):c.4070A>T (p.Asp1357Val)
NM_000138.5(FBN1):c.4079del (p.Lys1360fs) rs2141280061
NM_000138.5(FBN1):c.407G>A (p.Cys136Tyr) rs2505760991
NM_000138.5(FBN1):c.407G>T (p.Cys136Phe) rs2505760991
NM_000138.5(FBN1):c.4081T>C (p.Cys1361Arg) rs1566906506
NM_000138.5(FBN1):c.4082G>A (p.Cys1361Tyr) rs1555397704
NM_000138.5(FBN1):c.4085C>G (p.Thr1362Ser) rs2505518455
NM_000138.5(FBN1):c.4087+13G>A
NM_000138.5(FBN1):c.4087+1G>A rs387906548
NM_000138.5(FBN1):c.4087+5G>A rs1555397692
NM_000138.5(FBN1):c.4087G>T (p.Asp1363Tyr) rs2505518445
NM_000138.5(FBN1):c.4088-13C>T rs2505518058
NM_000138.5(FBN1):c.4088-14C>A rs1244196303
NM_000138.5(FBN1):c.4088-15A>C rs1277452638
NM_000138.5(FBN1):c.4088-17T>C rs1397067049
NM_000138.5(FBN1):c.4088-2A>C rs1555397671
NM_000138.5(FBN1):c.4088-2A>G rs1555397671
NM_000138.5(FBN1):c.4088-8del rs1325437178
NM_000138.5(FBN1):c.4088A>T (p.Asp1363Val) rs2043402890
NM_000138.5(FBN1):c.408C>A (p.Cys136Ter) rs1555405039
NM_000138.5(FBN1):c.4093G>A (p.Asp1365Asn)
NM_000138.5(FBN1):c.4094A>G (p.Asp1365Gly) rs794728217
NM_000138.5(FBN1):c.4096G>A (p.Glu1366Lys) rs763449629
NM_000138.5(FBN1):c.4096G>C (p.Glu1366Gln) rs763449629
NM_000138.5(FBN1):c.4098dup (p.Cys1367fs) rs2505517949
NM_000138.5(FBN1):c.4099T>A (p.Cys1367Ser) rs1555397670
NM_000138.5(FBN1):c.4099T>C (p.Cys1367Arg) rs1555397670
NM_000138.5(FBN1):c.409C>T (p.Gln137Ter) rs1060501047
NM_000138.5(FBN1):c.4100G>A (p.Cys1367Tyr) rs2141279869
NM_000138.5(FBN1):c.4101T>A (p.Cys1367Ter) rs2505517919
NM_000138.5(FBN1):c.4105A>G (p.Asn1369Asp)
NM_000138.5(FBN1):c.4107T>A (p.Asn1369Lys) rs765588220
NM_000138.5(FBN1):c.4107T>C (p.Asn1369=) rs765588220
NM_000138.5(FBN1):c.4111A>G (p.Thr1371Ala) rs2505517870
NM_000138.5(FBN1):c.4115A>G (p.His1372Arg)
NM_000138.5(FBN1):c.4119G>A (p.Met1373Ile)
NM_000138.5(FBN1):c.4120T>C (p.Cys1374Arg) rs2141279837
NM_000138.5(FBN1):c.4120T>G (p.Cys1374Gly) rs2141279837
NM_000138.5(FBN1):c.4121G>A (p.Cys1374Tyr) rs2141279835
NM_000138.5(FBN1):c.4122C>T (p.Cys1374=) rs113034291
NM_000138.5(FBN1):c.4125C>G (p.Ser1375Arg) rs1555397666
NM_000138.5(FBN1):c.4125C>T (p.Ser1375=)
NM_000138.5(FBN1):c.4126C>T (p.Gln1376Ter)
NM_000138.5(FBN1):c.4127A>G (p.Gln1376Arg) rs1597553861
NM_000138.5(FBN1):c.4128G>A (p.Gln1376=)
NM_000138.5(FBN1):c.4128G>C (p.Gln1376His)
NM_000138.5(FBN1):c.4130A>T (p.His1377Leu) rs1238143005
NM_000138.5(FBN1):c.4134A>T (p.Ala1378=) rs2505517746
NM_000138.5(FBN1):c.4139G>A (p.Cys1380Tyr) rs1254582017
NM_000138.5(FBN1):c.4143G>C (p.Lys1381Asn) rs2043402274
NM_000138.5(FBN1):c.4144A>T (p.Asn1382Tyr) rs2505517689
NM_000138.5(FBN1):c.4145A>T (p.Asn1382Ile) rs1555397661
NM_000138.5(FBN1):c.4145dup (p.Asn1382fs) rs1555397663
NM_000138.5(FBN1):c.4146T>A (p.Asn1382Lys) rs794728218
NM_000138.5(FBN1):c.4146T>C (p.Asn1382=) rs794728218
NM_000138.5(FBN1):c.4148C>G (p.Thr1383Ser)
NM_000138.5(FBN1):c.4149C>G (p.Thr1383=) rs2505517641
NM_000138.5(FBN1):c.4149_4154del (p.Met1384_Gly1385del) rs2505517602
NM_000138.5(FBN1):c.4151T>C (p.Met1384Thr) rs1555397658
NM_000138.5(FBN1):c.4152G>A (p.Met1384Ile) rs1488326228
NM_000138.5(FBN1):c.4154del (p.Gly1385fs) rs2043402092
NM_000138.5(FBN1):c.4155A>T (p.Gly1385=) rs2141279769
NM_000138.5(FBN1):c.4159T>G (p.Tyr1387Asp) rs1555397656
NM_000138.5(FBN1):c.415G>C (p.Gly139Arg) rs397515800
NM_000138.5(FBN1):c.415G>T (p.Gly139Ter) rs397515800
NM_000138.5(FBN1):c.4160A>G (p.Tyr1387Cys) rs397515801
NM_000138.5(FBN1):c.4161C>A (p.Tyr1387Ter) rs1332403498
NM_000138.5(FBN1):c.4162C>A (p.Arg1388Ser) rs770860280
NM_000138.5(FBN1):c.4163G>C (p.Arg1388Pro) rs749196340
NM_000138.5(FBN1):c.4163G>T (p.Arg1388Leu) rs749196340
NM_000138.5(FBN1):c.4164C>A (p.Arg1388=) rs941583661
NM_000138.5(FBN1):c.4165T>C (p.Cys1389Arg)
NM_000138.5(FBN1):c.4165T>G (p.Cys1389Gly) rs193922203
NM_000138.5(FBN1):c.4166G>A (p.Cys1389Tyr) rs1060501026
NM_000138.5(FBN1):c.4166G>C (p.Cys1389Ser) rs1060501026
NM_000138.5(FBN1):c.4168_4171del (p.Leu1390fs) rs1555397655
NM_000138.5(FBN1):c.4172G>A (p.Cys1391Tyr) rs1352478541
NM_000138.5(FBN1):c.4172G>T (p.Cys1391Phe) rs1352478541
NM_000138.5(FBN1):c.4177_4199del (p.Glu1393fs) rs1566906389
NM_000138.5(FBN1):c.4177del (p.Glu1393fs) rs2043401705
NM_000138.5(FBN1):c.4179A>G (p.Glu1393=) rs1597553731
NM_000138.5(FBN1):c.4179_4182del (p.Glu1393fs) rs2505517444
NM_000138.5(FBN1):c.4180G>T (p.Gly1394Ter) rs2141279711
NM_000138.5(FBN1):c.4183T>C (p.Tyr1395His) rs1555397653
NM_000138.5(FBN1):c.4185C>T (p.Tyr1395=) rs2043401602
NM_000138.5(FBN1):c.4187C>T (p.Thr1396Ile) rs2043401571
NM_000138.5(FBN1):c.4188del (p.Gly1397fs) rs1555397652
NM_000138.5(FBN1):c.4189G>A (p.Gly1397Ser) rs2505517403
NM_000138.5(FBN1):c.4190G>C (p.Gly1397Ala) rs747867726
NM_000138.5(FBN1):c.4190G>T (p.Gly1397Val) rs747867726
NM_000138.5(FBN1):c.4192G>A (p.Asp1398Asn) rs1597553721
NM_000138.5(FBN1):c.4195G>C (p.Gly1399Arg)
NM_000138.5(FBN1):c.4196G>A (p.Gly1399Asp) rs1389668311
NM_000138.5(FBN1):c.4196_4197insA (p.Phe1400fs) rs2505517344
NM_000138.5(FBN1):c.4197del (p.Phe1400fs) rs869025421
NM_000138.5(FBN1):c.4204T>G (p.Cys1402Gly) rs2141279646
NM_000138.5(FBN1):c.4205G>A (p.Cys1402Tyr) rs1555397646
NM_000138.5(FBN1):c.4208C>T (p.Thr1403Ile) rs1158045779
NM_000138.5(FBN1):c.4210+11G>A rs148057138
NM_000138.5(FBN1):c.4210+11G>T
NM_000138.5(FBN1):c.4210+14G>T rs2505517175
NM_000138.5(FBN1):c.4210+15G>A rs2505517164
NM_000138.5(FBN1):c.4210+15G>C rs2505517164
NM_000138.5(FBN1):c.4210+16A>C rs367609683
NM_000138.5(FBN1):c.4210+16A>G rs367609683
NM_000138.5(FBN1):c.4210+1G>A rs730880106
NM_000138.5(FBN1):c.4210+1G>T
NM_000138.5(FBN1):c.4210+3A>G rs1457293645
NM_000138.5(FBN1):c.4210+3A>T rs1457293645
NM_000138.5(FBN1):c.4210G>A (p.Asp1404Asn) rs794728220
NM_000138.5(FBN1):c.4210G>C (p.Asp1404His) rs794728220
NM_000138.5(FBN1):c.424G>A (p.Gly142Arg) rs2505760959
NM_000138.5(FBN1):c.425G>A (p.Gly142Glu) rs1555405036
NM_000138.5(FBN1):c.430C>T (p.His144Tyr) rs769476277
NM_000138.5(FBN1):c.432C>A (p.His144Gln) rs2505760942
NM_000138.5(FBN1):c.432C>G (p.His144Gln) rs2505760942
NM_000138.5(FBN1):c.4337-15C>G
NM_000138.5(FBN1):c.4337-1G>A rs1555397424
NM_000138.5(FBN1):c.4337-1G>T rs1555397424
NM_000138.5(FBN1):c.4337-2A>G rs794728216
NM_000138.5(FBN1):c.4337-2A>T rs794728216
NM_000138.5(FBN1):c.4337-4C>A
NM_000138.5(FBN1):c.4337-4C>T
NM_000138.5(FBN1):c.4337-4dup rs1566905439
NM_000138.5(FBN1):c.4337-55dup rs138034853
NM_000138.5(FBN1):c.4337-5C>A rs370959127
NM_000138.5(FBN1):c.4337-8C>A rs1458842000
NM_000138.5(FBN1):c.4337A>G (p.Asp1446Gly) rs397515806
NM_000138.5(FBN1):c.4337A>T (p.Asp1446Val) rs397515806
NM_000138.5(FBN1):c.4339del (p.Ile1447fs)
NM_000138.5(FBN1):c.433T>C (p.Cys145Arg) rs1555405031
NM_000138.5(FBN1):c.433T>G (p.Cys145Gly) rs1555405031
NM_000138.5(FBN1):c.4341_4344del (p.Ile1447fs) rs2505508693
NM_000138.5(FBN1):c.4345G>A (p.Glu1449Lys)
NM_000138.5(FBN1):c.4345G>T (p.Glu1449Ter)
NM_000138.5(FBN1):c.4345_4346insCACT (p.Glu1449fs) rs2043366702
NM_000138.5(FBN1):c.4346_4349dup (p.Cys1450Ter) rs1555397420
NM_000138.5(FBN1):c.4347G>T (p.Glu1449Asp) rs1555397423
NM_000138.5(FBN1):c.4348T>A (p.Cys1450Ser) rs1555397421
NM_000138.5(FBN1):c.4348T>C (p.Cys1450Arg) rs1555397421
NM_000138.5(FBN1):c.4349G>A (p.Cys1450Tyr) rs1555397419
NM_000138.5(FBN1):c.4349G>T (p.Cys1450Phe) rs1555397419
NM_000138.5(FBN1):c.434G>A (p.Cys145Tyr) rs878853682
NM_000138.5(FBN1):c.4351T>C (p.Ser1451Pro)
NM_000138.5(FBN1):c.4358C>A (p.Pro1453Gln) rs368650399
NM_000138.5(FBN1):c.4358C>G (p.Pro1453Arg) rs368650399
NM_000138.5(FBN1):c.4361A>G (p.Asn1454Ser) rs1555397415
NM_000138.5(FBN1):c.4362C>T (p.Asn1454=) rs1060504145
NM_000138.5(FBN1):c.4364T>G (p.Ile1455Ser) rs397515807
NM_000138.5(FBN1):c.4367G>A (p.Cys1456Tyr) rs397515805
NM_000138.5(FBN1):c.4367G>C (p.Cys1456Ser) rs397515805
NM_000138.5(FBN1):c.4367G>T (p.Cys1456Phe) rs397515805
NM_000138.5(FBN1):c.4369_4370del (p.Val1457fs) rs1060501043
NM_000138.5(FBN1):c.437G>A (p.Gly146Glu) rs2505760930
NM_000138.5(FBN1):c.4381T>C (p.Cys1461Arg) rs2141275778
NM_000138.5(FBN1):c.4382G>A (p.Cys1461Tyr) rs1057522902
NM_000138.5(FBN1):c.4382G>C (p.Cys1461Ser) rs1057522902
NM_000138.5(FBN1):c.4382G>T (p.Cys1461Phe) rs1057522902
NM_000138.5(FBN1):c.4383C>A (p.Cys1461Ter)
NM_000138.5(FBN1):c.4388A>C (p.Asn1463Thr)
NM_000138.5(FBN1):c.4388A>G (p.Asn1463Ser) rs1555397413
NM_000138.5(FBN1):c.4389C>A (p.Asn1463Lys) rs1555397412
NM_000138.5(FBN1):c.4389C>G (p.Asn1463Lys)
NM_000138.5(FBN1):c.4395T>C (p.Pro1465=) rs1555397410
NM_000138.5(FBN1):c.4397G>C (p.Gly1466Ala)
NM_000138.5(FBN1):c.439C>T (p.Gln147Ter) rs886039036
NM_000138.5(FBN1):c.4401G>A (p.Leu1467=) rs747377334
NM_000138.5(FBN1):c.4401G>C (p.Leu1467=) rs747377334
NM_000138.5(FBN1):c.4404C>G (p.Phe1468Leu) rs780479561
NM_000138.5(FBN1):c.4404C>T (p.Phe1468=) rs780479561
NM_000138.5(FBN1):c.4405del (p.Arg1469fs) rs794728308
NM_000138.5(FBN1):c.4406G>C (p.Arg1469Pro) rs397515808
NM_000138.5(FBN1):c.4406G>T (p.Arg1469Leu) rs397515808
NM_000138.5(FBN1):c.4407C>T (p.Arg1469=)
NM_000138.5(FBN1):c.4407_4409dup (p.Cys1470dup) rs1555397404
NM_000138.5(FBN1):c.4408T>C (p.Cys1470Arg)
NM_000138.5(FBN1):c.4409G>A (p.Cys1470Tyr) rs2043365537
NM_000138.5(FBN1):c.4409G>C (p.Cys1470Ser)
NM_000138.5(FBN1):c.440A>G (p.Gln147Arg) rs747815650
NM_000138.5(FBN1):c.4410T>G (p.Cys1470Trp)
NM_000138.5(FBN1):c.4410_4411del (p.Cys1470_Glu1471delinsTer) rs2141275703
NM_000138.5(FBN1):c.4410dup (p.Glu1471Ter) rs2043365502
NM_000138.5(FBN1):c.4411G>C (p.Glu1471Gln)
NM_000138.5(FBN1):c.4412_4415del (p.Glu1471fs) rs886038846
NM_000138.5(FBN1):c.4414T>A (p.Cys1472Ser) rs1555397403
NM_000138.5(FBN1):c.4414T>C (p.Cys1472Arg) rs1555397403
NM_000138.5(FBN1):c.441del (p.Gln147fs) rs1555405028
NM_000138.5(FBN1):c.442+15G>A
NM_000138.5(FBN1):c.442+1G>C rs868403743
NM_000138.5(FBN1):c.442+4A>T rs768207411
NM_000138.5(FBN1):c.442+8C>T rs771771077
NM_000138.5(FBN1):c.4420A>G (p.Ile1474Val)
NM_000138.5(FBN1):c.4424G>C (p.Gly1475Ala)
NM_000138.5(FBN1):c.4429G>A (p.Glu1477Lys) rs869025407
NM_000138.5(FBN1):c.443-12C>A rs1027154934
NM_000138.5(FBN1):c.443-15C>A rs2044516377
NM_000138.5(FBN1):c.443-17C>G rs2505755269
NM_000138.5(FBN1):c.443-18TC[2]
NM_000138.5(FBN1):c.443-1G>A rs1555404821
NM_000138.5(FBN1):c.443-8T>C rs1319616777
NM_000138.5(FBN1):c.443-9A>T rs776168186
NM_000138.5(FBN1):c.4432C>T (p.Leu1478=) rs1555397400
NM_000138.5(FBN1):c.4433T>C (p.Leu1478Pro)
NM_000138.5(FBN1):c.4434G>A (p.Leu1478=)
NM_000138.5(FBN1):c.4437C>G (p.Asp1479Glu) rs370161725
NM_000138.5(FBN1):c.443del (p.Pro148fs) rs1555404820
NM_000138.5(FBN1):c.4442G>A (p.Ser1481Asn) rs2505508333
NM_000138.5(FBN1):c.4447G>A (p.Gly1483Arg) rs794728223
NM_000138.5(FBN1):c.4453T>A (p.Cys1485Ser)
NM_000138.5(FBN1):c.4453T>C (p.Cys1485Arg) rs730880101
NM_000138.5(FBN1):c.4453T>G (p.Cys1485Gly) rs730880101
NM_000138.5(FBN1):c.4454G>A (p.Cys1485Tyr) rs111978932
NM_000138.5(FBN1):c.4454G>C (p.Cys1485Ser) rs111978932
NM_000138.5(FBN1):c.4458A>C (p.Thr1486=) rs2043364642
NM_000138.5(FBN1):c.4459+1G>A rs1227887757
NM_000138.5(FBN1):c.4459+2T>G rs1555397393
NM_000138.5(FBN1):c.4459+3A>C rs397515809
NM_000138.5(FBN1):c.4459+3A>T rs397515809
NM_000138.5(FBN1):c.4459G>A (p.Asp1487Asn) rs113693945
NM_000138.5(FBN1):c.4460-1G>C rs113082854
NM_000138.5(FBN1):c.4460-1G>T rs113082854
NM_000138.5(FBN1):c.4460-9C>A rs372753740
NM_000138.5(FBN1):c.4460A>C (p.Asp1487Ala) rs1555397216
NM_000138.5(FBN1):c.4460A>G (p.Asp1487Gly) rs1555397216
NM_000138.5(FBN1):c.4462G>T (p.Val1488Leu) rs1566904712
NM_000138.5(FBN1):c.4466A>G (p.Asn1489Ser) rs1057518501
NM_000138.5(FBN1):c.4467T>A (p.Asn1489Lys) rs193922205
NM_000138.5(FBN1):c.4468G>A (p.Glu1490Lys) rs1060501076
NM_000138.5(FBN1):c.4468G>T (p.Glu1490Ter) rs1060501076
NM_000138.5(FBN1):c.4469A>G (p.Glu1490Gly) rs2043341806
NM_000138.5(FBN1):c.4471T>C (p.Cys1491Arg) rs2141273081
NM_000138.5(FBN1):c.4472G>A (p.Cys1491Tyr) rs2141273076
NM_000138.5(FBN1):c.4472G>T (p.Cys1491Phe) rs2141273076
NM_000138.5(FBN1):c.4473C>G (p.Cys1491Trp) rs2043341787
NM_000138.5(FBN1):c.4474del (p.Leu1492fs) rs1555397214
NM_000138.5(FBN1):c.4475del (p.Leu1492fs)
NM_000138.5(FBN1):c.4487C>T (p.Thr1496Met) rs776199613
NM_000138.5(FBN1):c.4489T>A (p.Cys1497Ser) rs1555397213
NM_000138.5(FBN1):c.448T>C (p.Cys150Arg) rs1555404819
NM_000138.5(FBN1):c.4490G>A (p.Cys1497Tyr) rs1555397212
NM_000138.5(FBN1):c.4490G>C (p.Cys1497Ser) rs1555397212
NM_000138.5(FBN1):c.4491C>A (p.Cys1497Ter) rs2043341481
NM_000138.5(FBN1):c.4491C>G (p.Cys1497Trp) rs2043341481
NM_000138.5(FBN1):c.449G>A (p.Cys150Tyr) rs2140711857
NM_000138.5(FBN1):c.449G>T (p.Cys150Phe) rs2140711857
NM_000138.5(FBN1):c.4501_4511del (p.Asn1501fs) rs1555397210
NM_000138.5(FBN1):c.4503C>T (p.Asn1501=) rs2043341420
NM_000138.5(FBN1):c.4504T>C (p.Cys1502Arg) rs2141273019
NM_000138.5(FBN1):c.4505G>A (p.Cys1502Tyr) rs397515810
NM_000138.5(FBN1):c.4506T>A (p.Cys1502Ter) rs2505503296
NM_000138.5(FBN1):c.4508T>C (p.Val1503Ala)
NM_000138.5(FBN1):c.4509C>G (p.Val1503=)
NM_000138.5(FBN1):c.450T>A (p.Cys150Ter)
NM_000138.5(FBN1):c.4510A>T (p.Asn1504Tyr) rs1555397211
NM_000138.5(FBN1):c.4511A>G (p.Asn1504Ser) rs1555397209
NM_000138.5(FBN1):c.4511A>T (p.Asn1504Ile) rs1555397209
NM_000138.5(FBN1):c.4512C>T (p.Asn1504=) rs2505503262
NM_000138.5(FBN1):c.4516C>G (p.Pro1506Ala) rs794728224
NM_000138.5(FBN1):c.4517del (p.Pro1506fs) rs2141272985
NM_000138.5(FBN1):c.451G>T (p.Glu151Ter) rs1180715983
NM_000138.5(FBN1):c.4520G>A (p.Gly1507Asp) rs794728225
NM_000138.5(FBN1):c.4523G>T (p.Ser1508Ile) rs1555397207
NM_000138.5(FBN1):c.4525T>G (p.Tyr1509Asp) rs2505503180
NM_000138.5(FBN1):c.4526A>G (p.Tyr1509Cys) rs730880102
NM_000138.5(FBN1):c.4528A>G (p.Ile1510Val)
NM_000138.5(FBN1):c.4531T>C (p.Cys1511Arg) rs397515811
NM_000138.5(FBN1):c.4531T>G (p.Cys1511Gly) rs397515811
NM_000138.5(FBN1):c.4532G>A (p.Cys1511Tyr) rs1060501074
NM_000138.5(FBN1):c.4532del (p.Cys1511fs) rs2505503134
NM_000138.5(FBN1):c.4537T>G (p.Cys1513Gly) rs112723282
NM_000138.5(FBN1):c.4538G>A (p.Cys1513Tyr) rs1555397204
NM_000138.5(FBN1):c.4538G>C (p.Cys1513Ser)
NM_000138.5(FBN1):c.4538G>T (p.Cys1513Phe) rs1555397204
NM_000138.5(FBN1):c.4539C>A (p.Cys1513Ter)
NM_000138.5(FBN1):c.4539C>G (p.Cys1513Trp) rs1555397203
NM_000138.5(FBN1):c.4543C>T (p.Pro1515Ser) rs1219583611
NM_000138.5(FBN1):c.4544C>G (p.Pro1515Arg)
NM_000138.5(FBN1):c.4544_4546delinsAGAT (p.Pro1515fs) rs2505503068
NM_000138.5(FBN1):c.4545T>C (p.Pro1515=) rs2505503071
NM_000138.5(FBN1):c.4548T>G (p.Asp1516Glu) rs2043340843
NM_000138.5(FBN1):c.4549T>A (p.Phe1517Ile) rs2505503057
NM_000138.5(FBN1):c.454A>T (p.Ser152Cys) rs193922206
NM_000138.5(FBN1):c.4555del (p.Glu1518_Leu1519insTer) rs1555397199
NM_000138.5(FBN1):c.4557G>A (p.Leu1519=)
NM_000138.5(FBN1):c.455G>A (p.Ser152Asn) rs1288527435
NM_000138.5(FBN1):c.4562C>T (p.Pro1521Leu) rs2141272892
NM_000138.5(FBN1):c.4562dup (p.Thr1522fs) rs886039035
NM_000138.5(FBN1):c.4565C>T (p.Thr1522Ile) rs2505502999
NM_000138.5(FBN1):c.4567C>T (p.Arg1523Ter) rs397515812
NM_000138.5(FBN1):c.4569A>T (p.Arg1523=) rs2141272876
NM_000138.5(FBN1):c.4570G>A (p.Val1524Ile) rs2043340600
NM_000138.5(FBN1):c.4574G>A (p.Gly1525Asp) rs1597549030
NM_000138.5(FBN1):c.4575C>T (p.Gly1525=)
NM_000138.5(FBN1):c.4576T>C (p.Cys1526Arg) rs2505502965
NM_000138.5(FBN1):c.4577G>C (p.Cys1526Ser) rs886039120
NM_000138.5(FBN1):c.4577G>T (p.Cys1526Phe) rs886039120
NM_000138.5(FBN1):c.4579_4580del (p.Cys1526_Val1527insTer) rs1555397197
NM_000138.5(FBN1):c.457G>A (p.Gly153Ser) rs995711019
NM_000138.5(FBN1):c.4581_4582del (p.Asp1528fs) rs2141272855
NM_000138.5(FBN1):c.4582+19_4582+21del rs763675296
NM_000138.5(FBN1):c.4582+1G>A rs1555397195
NM_000138.5(FBN1):c.4582+1G>C
NM_000138.5(FBN1):c.4582+1G>T rs1555397195
NM_000138.5(FBN1):c.4582+2T>C
NM_000138.5(FBN1):c.4582+2T>G rs1555397193
NM_000138.5(FBN1):c.4582+2dup rs1555397194
NM_000138.5(FBN1):c.4582+3A>T rs777845323
NM_000138.5(FBN1):c.4582+4del rs2141272841
NM_000138.5(FBN1):c.4582+5G>C rs140633
NM_000138.5(FBN1):c.4582+7C>T rs768496209
NM_000138.5(FBN1):c.4582G>A (p.Asp1528Asn) rs2505502935
NM_000138.5(FBN1):c.4583-10T>A rs1379865323
NM_000138.5(FBN1):c.4583-10T>C
NM_000138.5(FBN1):c.4583-12T>C rs1326100045
NM_000138.5(FBN1):c.4583-12T>G rs1326100045
NM_000138.5(FBN1):c.4583-13A>G
NM_000138.5(FBN1):c.4583-16T>G
NM_000138.5(FBN1):c.4583-1G>A rs1555397176
NM_000138.5(FBN1):c.4583-2A>G rs745665056
NM_000138.5(FBN1):c.4583-4A>G rs2505502126
NM_000138.5(FBN1):c.4583-5A>G rs778966916
NM_000138.5(FBN1):c.4583-8G>C rs910464222
NM_000138.5(FBN1):c.4583-9G>A rs2043338449
NM_000138.5(FBN1):c.4583-9G>C rs2043338449
NM_000138.5(FBN1):c.4585A>G (p.Thr1529Ala) rs2505502088
NM_000138.5(FBN1):c.4585dup (p.Thr1529fs) rs2141272535
NM_000138.5(FBN1):c.4587C>T (p.Thr1529=) rs1366052911
NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys) rs111401431
NM_000138.5(FBN1):c.4588del (p.Arg1530fs) rs2043338241
NM_000138.5(FBN1):c.4589G>C (p.Arg1530Pro) rs778710767
NM_000138.5(FBN1):c.458G>C (p.Gly153Ala) rs1228441560
NM_000138.5(FBN1):c.458del (p.Gly153fs) rs2505755130
NM_000138.5(FBN1):c.4591T>C (p.Ser1531Pro) rs2505502034
NM_000138.5(FBN1):c.4591del (p.Ser1531fs) rs2141272501
NM_000138.5(FBN1):c.4593T>C (p.Ser1531=) rs985992262
NM_000138.5(FBN1):c.459_460dup (p.Cys154fs) rs2140711798
NM_000138.5(FBN1):c.4600T>C (p.Cys1534Arg) rs2141272479
NM_000138.5(FBN1):c.4602C>G (p.Cys1534Trp) rs1555397174
NM_000138.5(FBN1):c.4605T>G (p.Tyr1535Ter) rs2505501994
NM_000138.5(FBN1):c.4607T>G (p.Leu1536Trp) rs2043337989
NM_000138.5(FBN1):c.4609G>T (p.Asp1537Tyr) rs757316301
NM_000138.5(FBN1):c.460T>C (p.Cys154Arg)
NM_000138.5(FBN1):c.4612A>G (p.Ile1538Val) rs2043337939
NM_000138.5(FBN1):c.4615C>T (p.Arg1539Ter) rs111231312
NM_000138.5(FBN1):c.4619C>G (p.Pro1540Arg) rs2043337860
NM_000138.5(FBN1):c.461G>A (p.Cys154Tyr) rs1057521103
NM_000138.5(FBN1):c.461G>C (p.Cys154Ser) rs1057521103
NM_000138.5(FBN1):c.461G>T (p.Cys154Phe) rs1057521103
NM_000138.5(FBN1):c.4620T>G (p.Pro1540=) rs2505501933
NM_000138.5(FBN1):c.4621C>T (p.Arg1541Ter) rs794728228
NM_000138.5(FBN1):c.4625_4626delinsATAATCTCCATTC (p.Gly1542fs) rs2043337762
NM_000138.5(FBN1):c.4629del (p.Asp1543fs) rs2043337738
NM_000138.5(FBN1):c.4631A>G (p.Asn1544Ser)
NM_000138.5(FBN1):c.4635A>T (p.Gly1545=) rs1555397167
NM_000138.5(FBN1):c.4639dup (p.Thr1547fs) rs1597548734
NM_000138.5(FBN1):c.4640C>G (p.Thr1547Arg) rs183306990
NM_000138.5(FBN1):c.4648A>T (p.Ser1550Cys) rs794728229
NM_000138.5(FBN1):c.4649del (p.Ser1550fs) rs1597548716
NM_000138.5(FBN1):c.4652A>T (p.Asn1551Ile) rs1311329975
NM_000138.5(FBN1):c.4656A>G (p.Glu1552=) rs768210642
NM_000138.5(FBN1):c.4657_4658del (p.Ile1553fs) rs2505501802
NM_000138.5(FBN1):c.465C>T (p.Leu155=) rs1287033860
NM_000138.5(FBN1):c.465del (p.Asn156fs) rs2044515899
NM_000138.5(FBN1):c.4660G>T (p.Gly1554Ter) rs2043337443
NM_000138.5(FBN1):c.4661G>A (p.Gly1554Glu) rs2043337417
NM_000138.5(FBN1):c.4663G>C (p.Val1555Leu) rs760055928
NM_000138.5(FBN1):c.4664T>C (p.Val1555Ala) rs2505501753
NM_000138.5(FBN1):c.4665_4668del (p.Gly1556fs) rs1555397160
NM_000138.5(FBN1):c.4671T>C (p.Val1557=) rs978094803
NM_000138.5(FBN1):c.4678G>A (p.Ala1560Thr) rs142858432
NM_000138.5(FBN1):c.4678G>C (p.Ala1560Pro) rs142858432
NM_000138.5(FBN1):c.4679C>T (p.Ala1560Val) rs2505501683
NM_000138.5(FBN1):c.4684T>A (p.Cys1562Ser) rs193922207
NM_000138.5(FBN1):c.4685G>T (p.Cys1562Phe) rs2141272349
NM_000138.5(FBN1):c.4687T>A (p.Cys1563Ser) rs1597548672
NM_000138.5(FBN1):c.4688G>A (p.Cys1563Tyr) rs1131691871
NM_000138.5(FBN1):c.4689C>G (p.Cys1563Trp) rs2043337073
NM_000138.5(FBN1):c.468T>C (p.Asn156=) rs757577615
NM_000138.5(FBN1):c.4690_4691insTGTT (p.Cys1564fs) rs2141272337
NM_000138.5(FBN1):c.4691G>A (p.Cys1564Tyr) rs267606800
NM_000138.5(FBN1):c.4694C>T (p.Ser1565Phe) rs1555397156
NM_000138.5(FBN1):c.4697T>C (p.Leu1566Pro)
NM_000138.5(FBN1):c.4700del (p.Gly1567fs) rs1566904526
NM_000138.5(FBN1):c.4704A>G (p.Lys1568=) rs193922208
NM_000138.5(FBN1):c.4704A>T (p.Lys1568Asn) rs193922208
NM_000138.5(FBN1):c.4704_4707dup (p.Trp1570fs) rs2505501580
NM_000138.5(FBN1):c.4710G>A (p.Trp1570Ter) rs267606799
NM_000138.5(FBN1):c.4713T>A (p.Gly1571=) rs1363175789
NM_000138.5(FBN1):c.4714A>G (p.Thr1572Ala) rs1597548645
NM_000138.5(FBN1):c.4723G>T (p.Glu1575Ter) rs2141272276
NM_000138.5(FBN1):c.4728G>A (p.Met1576Ile) rs2141272271
NM_000138.5(FBN1):c.4729T>C (p.Cys1577Arg) rs267606801
NM_000138.5(FBN1):c.4729T>G (p.Cys1577Gly) rs267606801
NM_000138.5(FBN1):c.4731T>A (p.Cys1577Ter) rs2141272261
NM_000138.5(FBN1):c.4731T>C (p.Cys1577=) rs2141272261
NM_000138.5(FBN1):c.473del (p.Gly158fs) rs2140711733
NM_000138.5(FBN1):c.4741_4747+7del rs2505501369
NM_000138.5(FBN1):c.4742A>G (p.Asn1581Ser) rs2505501431
NM_000138.5(FBN1):c.4744A>G (p.Thr1582Ala) rs761794133
NM_000138.5(FBN1):c.4744A>T (p.Thr1582Ser) rs761794133
NM_000138.5(FBN1):c.4745C>T (p.Thr1582Ile) rs1597548610
NM_000138.5(FBN1):c.4745del (p.Thr1582fs) rs2043336561
NM_000138.5(FBN1):c.4747+11A>G
NM_000138.5(FBN1):c.4747+15T>G rs2505501331
NM_000138.5(FBN1):c.4747+19A>G rs2141272191
NM_000138.5(FBN1):c.4747+1G>A rs2141272220
NM_000138.5(FBN1):c.4747+3A>T rs1555397145
NM_000138.5(FBN1):c.4747+4A>G rs1430326088
NM_000138.5(FBN1):c.4747+5G>A rs193922209
NM_000138.5(FBN1):c.4747+5G>C rs193922209
NM_000138.5(FBN1):c.4747+5G>T rs193922209
NM_000138.5(FBN1):c.4747+8G>A rs368739764
NM_000138.5(FBN1):c.4747+8G>C rs368739764
NM_000138.5(FBN1):c.4748-10G>A rs2043316656
NM_000138.5(FBN1):c.4748-10G>C rs2043316656
NM_000138.5(FBN1):c.4748-11T>C rs549918653
NM_000138.5(FBN1):c.4748-1G>A rs2141270027
NM_000138.5(FBN1):c.4748-2A>G rs2141270032
NM_000138.5(FBN1):c.4748-2dup rs2043316552
NM_000138.5(FBN1):c.4748-3T>C rs770762644
NM_000138.5(FBN1):c.4748-3T>G rs770762644
NM_000138.5(FBN1):c.4748-4A>G rs2505497864
NM_000138.5(FBN1):c.4748-9T>C rs760640909
NM_000138.5(FBN1):c.4748C>A (p.Ser1583Tyr) rs2505497836
NM_000138.5(FBN1):c.4748C>T (p.Ser1583Phe)
NM_000138.5(FBN1):c.474_476del (p.Arg159del) rs2140711718
NM_000138.5(FBN1):c.4764T>C (p.Leu1588=) rs2043316351
NM_000138.5(FBN1):c.4766G>T (p.Cys1589Phe) rs1555397024
NM_000138.5(FBN1):c.4767dup (p.Pro1590fs) rs2505497751
NM_000138.5(FBN1):c.4770_4771del (p.Gly1591fs) rs1555397022
NM_000138.5(FBN1):c.4771G>C (p.Gly1591Arg)
NM_000138.5(FBN1):c.4775G>A (p.Gly1592Glu) rs1555397019
NM_000138.5(FBN1):c.4777del (p.Glu1593fs) rs2141269976
NM_000138.5(FBN1):c.4778A>G (p.Glu1593Gly) rs2505497718
NM_000138.5(FBN1):c.477G>A (p.Arg159=) rs1456579664
NM_000138.5(FBN1):c.477G>T (p.Arg159Ser) rs1456579664
NM_000138.5(FBN1):c.4781G>A (p.Gly1594Asp) rs267606798
NM_000138.5(FBN1):c.4781del (p.Gly1594fs) rs1566904011
NM_000138.5(FBN1):c.4786C>T (p.Arg1596Ter) rs113871094
NM_000138.5(FBN1):c.4787G>A (p.Arg1596Gln) rs769588424
NM_000138.5(FBN1):c.4787G>C (p.Arg1596Pro) rs769588424
NM_000138.5(FBN1):c.478T>C (p.Cys160Arg) rs1057518973
NM_000138.5(FBN1):c.478T>G (p.Cys160Gly) rs1057518973
NM_000138.5(FBN1):c.4795C>A (p.Pro1599Thr) rs1555397018
NM_000138.5(FBN1):c.4799T>G (p.Ile1600Ser) rs2505497645
NM_000138.5(FBN1):c.479G>A (p.Cys160Tyr) rs1555404810
NM_000138.5(FBN1):c.479G>C (p.Cys160Ser) rs1555404810
NM_000138.5(FBN1):c.4802C>G (p.Thr1601Ser) rs1363357978
NM_000138.5(FBN1):c.4811T>A (p.Leu1604Ter) rs2505497576
NM_000138.5(FBN1):c.4811del (p.Leu1604fs)
NM_000138.5(FBN1):c.4813del (p.Glu1605fs) rs1555397016
NM_000138.5(FBN1):c.4815A>G (p.Glu1605=) rs869025408
NM_000138.5(FBN1):c.4815del (p.Asp1606fs) rs2141269914
NM_000138.5(FBN1):c.4816+18G>C
NM_000138.5(FBN1):c.4816+1G>C rs1555397014
NM_000138.5(FBN1):c.4816+1G>T rs1555397014
NM_000138.5(FBN1):c.4816+2T>C rs1597547226
NM_000138.5(FBN1):c.4816+4A>G rs2141269898
NM_000138.5(FBN1):c.4816+8_4816+9insTACCTTCCTT rs878853684
NM_000138.5(FBN1):c.4816G>A (p.Asp1606Asn) rs2043315819
NM_000138.5(FBN1):c.4817-1_4819del rs2141269777
NM_000138.5(FBN1):c.4817-22_4817-14delinsAGCC rs2505497286
NM_000138.5(FBN1):c.4817-2A>G rs1555397008
NM_000138.5(FBN1):c.4817-3_4818dup rs2141269780
NM_000138.5(FBN1):c.4817-7T>C rs2505497262
NM_000138.5(FBN1):c.4817-8T>C rs2043315040
NM_000138.5(FBN1):c.4817A>G (p.Asp1606Gly)
NM_000138.5(FBN1):c.4818_4826del
NM_000138.5(FBN1):c.481G>A (p.Val161Met)
NM_000138.5(FBN1):c.4823A>T (p.Asp1608Val) rs2505497203
NM_000138.5(FBN1):c.4825G>T (p.Glu1609Ter) rs2141269766
NM_000138.5(FBN1):c.4827G>A (p.Glu1609=) rs1597547090
NM_000138.5(FBN1):c.4829G>A (p.Cys1610Tyr)
NM_000138.5(FBN1):c.4829_4838dup (p.Leu1616fs) rs1597547075
NM_000138.5(FBN1):c.482T>C (p.Val161Ala) rs2505754937
NM_000138.5(FBN1):c.482_483del (p.Val161fs)
NM_000138.5(FBN1):c.4831C>T (p.Gln1611Ter) rs1555397004
NM_000138.5(FBN1):c.4847T>A (p.Leu1616Gln) rs2505497122
NM_000138.5(FBN1):c.4848G>C (p.Leu1616=) rs2505497115
NM_000138.5(FBN1):c.4852C>T (p.Gln1618Ter) rs2141269730
NM_000138.5(FBN1):c.4853A>G (p.Gln1618Arg) rs2043314733
NM_000138.5(FBN1):c.4857_4865del (p.Gly1620_Cys1622del) rs2141269721
NM_000138.5(FBN1):c.4864T>C (p.Cys1622Arg) rs2505497067
NM_000138.5(FBN1):c.486C>G (p.Ala162=) rs2044515505
NM_000138.5(FBN1):c.486C>T (p.Ala162=) rs2044515505
NM_000138.5(FBN1):c.4875del (p.Phe1626fs) rs2505497007
NM_000138.5(FBN1):c.4878del (p.Phe1626fs) rs2043314537
NM_000138.5(FBN1):c.4881G>A (p.Gly1627=) rs886038251
NM_000138.5(FBN1):c.4881del (p.Ser1628fs) rs2043314519
NM_000138.5(FBN1):c.4886T>A (p.Phe1629Tyr) rs1343255869
NM_000138.5(FBN1):c.4888C>T (p.Gln1630Ter) rs794728231
NM_000138.5(FBN1):c.488del (p.Pro163fs) rs1555404806
NM_000138.5(FBN1):c.4891T>A (p.Cys1631Ser) rs1555396998
NM_000138.5(FBN1):c.4891T>G (p.Cys1631Gly)
NM_000138.5(FBN1):c.4893C>A (p.Cys1631Ter) rs1597547030
NM_000138.5(FBN1):c.4896C>G (p.Arg1632=) rs2141269637
NM_000138.5(FBN1):c.4897T>C (p.Cys1633Arg) rs2505496914
NM_000138.5(FBN1):c.4898G>A (p.Cys1633Tyr) rs1555396993
NM_000138.5(FBN1):c.4905C>T (p.Thr1635=) rs113115949
NM_000138.5(FBN1):c.4907del (p.Gly1636fs) rs2505496871
NM_000138.5(FBN1):c.4911C>A (p.Tyr1637Ter) rs1566903921
NM_000138.5(FBN1):c.4914C>A (p.Tyr1638Ter) rs1555396991
NM_000138.5(FBN1):c.4914C>T (p.Tyr1638=) rs1555396991
NM_000138.5(FBN1):c.4915C>G (p.Leu1639Val) rs2505496831
NM_000138.5(FBN1):c.4915del (p.Tyr1638_Leu1639insTer) rs2141269593
NM_000138.5(FBN1):c.4917G>T (p.Leu1639=) rs2043314032
NM_000138.5(FBN1):c.491del (p.Asn164fs) rs2044515447
NM_000138.5(FBN1):c.4926_4927del (p.Arg1644fs) rs1555396990
NM_000138.5(FBN1):c.4930C>A (p.Arg1644=) rs140630
NM_000138.5(FBN1):c.4930C>T (p.Arg1644Ter) rs140630
NM_000138.5(FBN1):c.4932A>G (p.Arg1644=) rs2043313777
NM_000138.5(FBN1):c.4935G>A (p.Val1645=) rs886038897
NM_000138.5(FBN1):c.4936T>A (p.Cys1646Ser) rs1064793115
NM_000138.5(FBN1):c.4937G>A (p.Cys1646Tyr) rs397515814
NM_000138.5(FBN1):c.4937G>T (p.Cys1646Phe) rs397515814
NM_000138.5(FBN1):c.493C>T (p.Arg165Ter) rs113905529
NM_000138.5(FBN1):c.4940A>G (p.Asp1647Gly) rs1566903908
NM_000138.5(FBN1):c.4942+14G>A rs760195178
NM_000138.5(FBN1):c.4942+19A>C rs2141269507
NM_000138.5(FBN1):c.4942+19A>T rs2141269507
NM_000138.5(FBN1):c.4942+1G>A rs1566903907
NM_000138.5(FBN1):c.4942+20T>A rs2505496609
NM_000138.5(FBN1):c.4942+2T>C rs2141269534
NM_000138.5(FBN1):c.4942+4A>G rs397515815
NM_000138.5(FBN1):c.4942+8G>C rs2505496665
NM_000138.5(FBN1):c.4942+9T>G rs1423956707
NM_000138.5(FBN1):c.4942G>A (p.Asp1648Asn) rs397515816
NM_000138.5(FBN1):c.4942G>C (p.Asp1648His) rs397515816
NM_000138.5(FBN1):c.4943-13C>T rs2505493576
NM_000138.5(FBN1):c.4943-15C>A rs2505493582
NM_000138.5(FBN1):c.4943-1G>A rs1555396863
NM_000138.5(FBN1):c.4943-1G>C rs1555396863
NM_000138.5(FBN1):c.4943-25_4943-19del rs761307030
NM_000138.5(FBN1):c.4943-4A>G rs1555396865
NM_000138.5(FBN1):c.4943A>G (p.Asp1648Gly) rs2505493557
NM_000138.5(FBN1):c.494G>C (p.Arg165Pro) rs1060501079
NM_000138.5(FBN1):c.4951G>A (p.Glu1651Lys) rs886039152
NM_000138.5(FBN1):c.4955G>A (p.Cys1652Tyr) rs397515817
NM_000138.5(FBN1):c.4955G>C (p.Cys1652Ser) rs397515817
NM_000138.5(FBN1):c.4962del (p.Pro1655fs) rs2505493513
NM_000138.5(FBN1):c.4965del (p.Gly1656fs) rs1555396861
NM_000138.5(FBN1):c.496T>A (p.Cys166Ser) rs363852
NM_000138.5(FBN1):c.496T>C (p.Cys166Arg) rs363852
NM_000138.5(FBN1):c.4971_4972del (p.Ile1657fs) rs2141267737
NM_000138.5(FBN1):c.4973G>A (p.Cys1658Tyr) rs1555396859
NM_000138.5(FBN1):c.4974_4975del (p.Cys1658fs) rs1555396858
NM_000138.5(FBN1):c.4978C>G (p.Pro1660Ala)
NM_000138.5(FBN1):c.497G>A (p.Cys166Tyr) rs397515818
NM_000138.5(FBN1):c.497G>C (p.Cys166Ser) rs397515818
NM_000138.5(FBN1):c.4982G>A (p.Gly1661Glu)
NM_000138.5(FBN1):c.4984A>T (p.Thr1662Ser) rs1471557498
NM_000138.5(FBN1):c.4987T>C (p.Cys1663Arg) rs137854459
NM_000138.5(FBN1):c.4988G>C (p.Cys1663Ser) rs1555396853
NM_000138.5(FBN1):c.4988G>T (p.Cys1663Phe) rs1555396853
NM_000138.5(FBN1):c.4989_4990insGGTCCAGGGTCCTGGAATCTGTGGTCCAGGT (p.Tyr1664fs) rs2505493415
NM_000138.5(FBN1):c.498T>G (p.Cys166Trp)
NM_000138.5(FBN1):c.4991ACA[1] (p.Asn1665del)
NM_000138.5(FBN1):c.4994A>C (p.Asn1665Thr) rs2505493402
NM_000138.5(FBN1):c.4995C>T (p.Asn1665=)
NM_000138.5(FBN1):c.4996_5007del (p.Thr1666_Asn1669del) rs2141267678
NM_000138.5(FBN1):c.4998C>T (p.Thr1666=) rs141925790
NM_000138.5(FBN1):c.4999G>C (p.Val1667Leu) rs140626
NM_000138.5(FBN1):c.5000T>C (p.Val1667Ala) rs2505493366
NM_000138.5(FBN1):c.5006_5013del (p.Asn1669fs)
NM_000138.5(FBN1):c.5009_5020del (p.Tyr1670_Ile1673del) rs2505493264
NM_000138.5(FBN1):c.5010C>G (p.Tyr1670Ter)
NM_000138.5(FBN1):c.5011A>C (p.Thr1671Pro) rs2505493313
NM_000138.5(FBN1):c.5013_5031del (p.Cys1672fs) rs2505493220
NM_000138.5(FBN1):c.5014T>G (p.Cys1672Gly) rs112930491
NM_000138.5(FBN1):c.5015G>C (p.Cys1672Ser) rs140627
NM_000138.5(FBN1):c.5015G>T (p.Cys1672Phe) rs140627
NM_000138.5(FBN1):c.5016T>A (p.Cys1672Ter) rs1555396848
NM_000138.5(FBN1):c.5016dup (p.Ile1673fs) rs869025426
NM_000138.5(FBN1):c.5018T>C (p.Ile1673Thr) rs2043300504
NM_000138.5(FBN1):c.5020T>C (p.Cys1674Arg) rs1555396844
NM_000138.5(FBN1):c.5021G>A (p.Cys1674Tyr) rs794728233
NM_000138.5(FBN1):c.5021_5022del (p.Cys1674fs) rs2505493243
NM_000138.5(FBN1):c.5026C>A (p.Pro1676Thr)
NM_000138.5(FBN1):c.502T>A (p.Cys168Ser) rs2044515247
NM_000138.5(FBN1):c.502T>C (p.Cys168Arg) rs2044515247
NM_000138.5(FBN1):c.502T>G (p.Cys168Gly) rs2044515247
NM_000138.5(FBN1):c.5030A>G (p.Asp1677Gly) rs2505493223
NM_000138.5(FBN1):c.5031C>T (p.Asp1677=) rs1597545860
NM_000138.5(FBN1):c.5035A>G (p.Met1679Val) rs759114752
NM_000138.5(FBN1):c.5038C>T (p.Gln1680Ter) rs878853685
NM_000138.5(FBN1):c.503G>A (p.Cys168Tyr) rs1555404803
NM_000138.5(FBN1):c.503G>T (p.Cys168Phe) rs1555404803
NM_000138.5(FBN1):c.5041G>A (p.Val1681Met) rs2505493195
NM_000138.5(FBN1):c.5042T>C (p.Val1681Ala) rs2505493193
NM_000138.5(FBN1):c.504C>G (p.Cys168Trp) rs200295020
NM_000138.5(FBN1):c.5054A>G (p.Asn1685Ser)
NM_000138.5(FBN1):c.5054del (p.Asn1685fs) rs2505493145
NM_000138.5(FBN1):c.5057del (p.Asn1686fs) rs1597545836
NM_000138.5(FBN1):c.5060G>A (p.Cys1687Tyr) rs2505493108
NM_000138.5(FBN1):c.5060G>T (p.Cys1687Phe) rs2505493108
NM_000138.5(FBN1):c.5061C>A (p.Cys1687Ter) rs1555396838
NM_000138.5(FBN1):c.5062del (p.Met1688fs) rs1555396837
NM_000138.5(FBN1):c.5065+1G>A rs1296209846
NM_000138.5(FBN1):c.5065+1G>C rs1296209846
NM_000138.5(FBN1):c.5065+1G>T rs1296209846
NM_000138.5(FBN1):c.5065+2dup rs1555396835
NM_000138.5(FBN1):c.5066-12C>A rs531105331
NM_000138.5(FBN1):c.5066-12C>T rs531105331
NM_000138.5(FBN1):c.5066-14del rs3833018
NM_000138.5(FBN1):c.5066-14dup rs3833018
NM_000138.5(FBN1):c.5066-15_5066-14del rs3833018
NM_000138.5(FBN1):c.5066-15_5066-14dup rs3833018
NM_000138.5(FBN1):c.5066-1G>A rs397515819
NM_000138.5(FBN1):c.5066-1G>C rs397515819
NM_000138.5(FBN1):c.5066-1G>T rs397515819
NM_000138.5(FBN1):c.5066-3T>C rs2141266776
NM_000138.5(FBN1):c.5066-5dup rs2505491451
NM_000138.5(FBN1):c.5066-9_5086dup rs1566903283
NM_000138.5(FBN1):c.5066del (p.Asp1689fs) rs727504347
NM_000138.5(FBN1):c.5073A>G (p.Arg1691=)
NM_000138.5(FBN1):c.5073AAG[1] (p.Arg1692del) rs1555396789
NM_000138.5(FBN1):c.5076A>G (p.Arg1692=) rs2141266766
NM_000138.5(FBN1):c.5080T>C (p.Leu1694=) rs2043294030
NM_000138.5(FBN1):c.5083T>G (p.Cys1695Gly) rs1597545345
NM_000138.5(FBN1):c.5084G>A (p.Cys1695Tyr) rs2505491360
NM_000138.5(FBN1):c.5087A>G (p.Tyr1696Cys) rs387906625
NM_000138.5(FBN1):c.5092A>G (p.Asn1698Asp)
NM_000138.5(FBN1):c.5093A>G (p.Asn1698Ser) rs2043293815
NM_000138.5(FBN1):c.5093del (p.Asn1698fs) rs1597545309
NM_000138.5(FBN1):c.5094del (p.Tyr1699fs) rs1060501031
NM_000138.5(FBN1):c.5095T>A (p.Tyr1699Asn) rs2043293738
NM_000138.5(FBN1):c.5096A>G (p.Tyr1699Cys) rs387906622
NM_000138.5(FBN1):c.5097C>G (p.Tyr1699Ter) rs368979510
NM_000138.5(FBN1):c.5099A>G (p.Tyr1700Cys) rs387906626
NM_000138.5(FBN1):c.509dup (p.Tyr170Ter) rs2505754783
NM_000138.5(FBN1):c.5101_5102delinsTT (p.Ala1701Phe) rs2505491256
NM_000138.5(FBN1):c.5102C>A (p.Ala1701Asp)
NM_000138.5(FBN1):c.5102C>T (p.Ala1701Val) rs2505491252
NM_000138.5(FBN1):c.5105A>G (p.Asp1702Gly) rs1294870005
NM_000138.5(FBN1):c.5106C>T (p.Asp1702=)
NM_000138.5(FBN1):c.5109C>T (p.Asn1703=) rs1235270306
NM_000138.5(FBN1):c.510C>G (p.Tyr170Ter) rs111671429
NM_000138.5(FBN1):c.510del (p.Thr169_Tyr170insTer) rs1597623670
NM_000138.5(FBN1):c.5111del (p.Gln1704fs) rs2141266677
NM_000138.5(FBN1):c.5117G>A (p.Cys1706Tyr) rs2505491185
NM_000138.5(FBN1):c.5119G>A (p.Asp1707Asn)
NM_000138.5(FBN1):c.511G>A (p.Gly171Arg) rs1566934693
NM_000138.5(FBN1):c.511G>T (p.Gly171Ter) rs1566934693
NM_000138.5(FBN1):c.5121T>C (p.Asp1707=) rs1031351464
NM_000138.5(FBN1):c.5125G>T (p.Glu1709Ter) rs1597545257
NM_000138.5(FBN1):c.5129T>C (p.Leu1710Ser) rs2505491149
NM_000138.5(FBN1):c.512G>A (p.Gly171Glu) rs2505754739
NM_000138.5(FBN1):c.5130G>A (p.Leu1710=)
NM_000138.5(FBN1):c.5139C>T (p.Asn1713=)
NM_000138.5(FBN1):c.513A>G (p.Gly171=)
NM_000138.5(FBN1):c.5140A>G (p.Met1714Val) rs1555396776
NM_000138.5(FBN1):c.5144C>T (p.Thr1715Ile) rs2505491101
NM_000138.5(FBN1):c.5147AGA[1] (p.Lys1717del) rs2043292746
NM_000138.5(FBN1):c.5156G>A (p.Cys1719Tyr) rs1555396769
NM_000138.5(FBN1):c.5157C>A (p.Cys1719Ter) rs2043292643
NM_000138.5(FBN1):c.5158T>C (p.Cys1720Arg) rs1597545230
NM_000138.5(FBN1):c.5159G>A (p.Cys1720Tyr) rs2505491035
NM_000138.5(FBN1):c.5160C>A (p.Cys1720Ter)
NM_000138.5(FBN1):c.5160C>G (p.Cys1720Trp) rs2505491030
NM_000138.5(FBN1):c.5162G>A (p.Cys1721Tyr) rs2043292594
NM_000138.5(FBN1):c.5174T>A (p.Ile1725Asn) rs2141266590
NM_000138.5(FBN1):c.5178C>T (p.Gly1726=) rs1303761807
NM_000138.5(FBN1):c.5179C>T (p.Arg1727Trp) rs752450678
NM_000138.5(FBN1):c.5179del (p.Arg1727fs) rs1555396765
NM_000138.5(FBN1):c.5181G>C (p.Arg1727=) rs1288751290
NM_000138.5(FBN1):c.5182G>C (p.Ala1728Pro) rs387906624
NM_000138.5(FBN1):c.5182_5183delinsTA (p.Ala1728Ter) rs2505490952
NM_000138.5(FBN1):c.5183C>T (p.Ala1728Val) rs1131691804
NM_000138.5(FBN1):c.5187G>A (p.Trp1729Ter) rs1597545199
NM_000138.5(FBN1):c.5189A>G (p.Asn1730Ser) rs751256880
NM_000138.5(FBN1):c.5189del (p.Asn1730fs) rs2043292163
NM_000138.5(FBN1):c.5190del (p.Asn1730fs) rs2043292112
NM_000138.5(FBN1):c.5196C>T (p.Pro1732=)
NM_000138.5(FBN1):c.5196del (p.Cys1733fs) rs2043292041
NM_000138.5(FBN1):c.5200G>A (p.Glu1734Lys) rs2505490891
NM_000138.5(FBN1):c.5203dup (p.Gln1735fs) rs1555396760
NM_000138.5(FBN1):c.5207G>A (p.Cys1736Tyr) rs1060501070
NM_000138.5(FBN1):c.5208T>A (p.Cys1736Ter) rs794728234
NM_000138.5(FBN1):c.520G>A (p.Gly174Arg) rs2505754709
NM_000138.5(FBN1):c.5210C>T (p.Pro1737Leu) rs2141266510
NM_000138.5(FBN1):c.5211C>T (p.Pro1737=) rs267604239
NM_000138.5(FBN1):c.5213_5217del (p.Ile1738fs) rs1555396757
NM_000138.5(FBN1):c.5214C>T (p.Ile1738=) rs2505490829
NM_000138.5(FBN1):c.5215C>T (p.Pro1739Ser) rs2505490823
NM_000138.5(FBN1):c.5222C>T (p.Thr1741Ile)
NM_000138.5(FBN1):c.5224+2T>A
NM_000138.5(FBN1):c.5225-15G>C
NM_000138.5(FBN1):c.5225-2A>C rs1555396639
NM_000138.5(FBN1):c.5225-2A>G rs1555396639
NM_000138.5(FBN1):c.5225-3C>A rs876657810
NM_000138.5(FBN1):c.5225-3C>G
NM_000138.5(FBN1):c.5232T>C (p.Phe1744=) rs2505485721
NM_000138.5(FBN1):c.5234C>T (p.Ala1745Val) rs2043271430
NM_000138.5(FBN1):c.5238A>G (p.Thr1746=) rs754417348
NM_000138.5(FBN1):c.5239C>A (p.Leu1747Ile) rs1250470667
NM_000138.5(FBN1):c.523C>T (p.Pro175Ser) rs891185586
NM_000138.5(FBN1):c.5240T>C (p.Leu1747Pro)
NM_000138.5(FBN1):c.5240_5251del (p.Leu1747_Ser1750del)
NM_000138.5(FBN1):c.5242T>C (p.Cys1748Arg) rs2505485657
NM_000138.5(FBN1):c.5244T>G (p.Cys1748Trp) rs2505485644
NM_000138.5(FBN1):c.5244_5245del (p.Cys1748fs) rs1555396636
NM_000138.5(FBN1):c.5244_5247dup (p.Ser1750fs) rs1597543486
NM_000138.5(FBN1):c.524C>G (p.Pro175Arg) rs2505754682
NM_000138.5(FBN1):c.5251C>T (p.Gln1751Ter) rs397515820
NM_000138.5(FBN1):c.5254A>C (p.Arg1752=) rs2505485584
NM_000138.5(FBN1):c.5256G>A (p.Arg1752=)
NM_000138.5(FBN1):c.5258_5260dup (p.Pro1753_Gly1754insAla) rs2505485561
NM_000138.5(FBN1):c.525C>G (p.Pro175=)
NM_000138.5(FBN1):c.5261G>A (p.Gly1754Asp) rs2505485551
NM_000138.5(FBN1):c.5261G>T (p.Gly1754Val) rs2505485551
NM_000138.5(FBN1):c.5262C>A (p.Gly1754=) rs2505485544
NM_000138.5(FBN1):c.5266del (p.Val1756fs) rs2505485530
NM_000138.5(FBN1):c.5267T>C (p.Val1756Ala) rs2505485513
NM_000138.5(FBN1):c.5268C>A (p.Val1756=) rs764685311
NM_000138.5(FBN1):c.5270T>C (p.Ile1757Thr) rs2141264003
NM_000138.5(FBN1):c.5271C>A (p.Ile1757=) rs1291913287
NM_000138.5(FBN1):c.5272G>A (p.Asp1758Asn) rs1414735771
NM_000138.5(FBN1):c.5274C>T (p.Asp1758=) rs1566902542
NM_000138.5(FBN1):c.5277T>G (p.Ile1759Met) rs2505485471
NM_000138.5(FBN1):c.5278T>G (p.Tyr1760Asp) rs761188772
NM_000138.5(FBN1):c.5279A>G (p.Tyr1760Cys) rs1597543452
NM_000138.5(FBN1):c.527A>C (p.Gln176Pro)
NM_000138.5(FBN1):c.5280T>A (p.Tyr1760Ter) rs730880103
NM_000138.5(FBN1):c.5283C>G (p.Thr1761=) rs373887214
NM_000138.5(FBN1):c.5285G>T (p.Gly1762Val) rs1057524697
NM_000138.5(FBN1):c.5290C>T (p.Pro1764Ser) rs2505485396
NM_000138.5(FBN1):c.5291C>A (p.Pro1764His) rs2043270903
NM_000138.5(FBN1):c.5293G>T (p.Val1765Phe) rs2043270857
NM_000138.5(FBN1):c.5294T>G (p.Val1765Gly) rs2141263957
NM_000138.5(FBN1):c.5296+10G>A rs771086305
NM_000138.5(FBN1):c.5296+12C>G rs566030960
NM_000138.5(FBN1):c.5296+1G>A rs1555396630
NM_000138.5(FBN1):c.5296+1G>C rs1555396630
NM_000138.5(FBN1):c.5296+2T>G rs113963967
NM_000138.5(FBN1):c.5296+3G>C rs2043270772
NM_000138.5(FBN1):c.5296+3G>T rs2043270772
NM_000138.5(FBN1):c.5296+5G>A rs1566902515
NM_000138.5(FBN1):c.5296+5G>C rs1566902515
NM_000138.5(FBN1):c.5296+6T>C rs1555396629
NM_000138.5(FBN1):c.5296+7C>T rs1000421938
NM_000138.5(FBN1):c.5296+8A>C rs904325621
NM_000138.5(FBN1):c.5296+8A>T
NM_000138.5(FBN1):c.5296G>C (p.Asp1766His) rs1555396631
NM_000138.5(FBN1):c.5297-10C>T rs2505479259
NM_000138.5(FBN1):c.5297-15C>T rs2505479272
NM_000138.5(FBN1):c.5297-1G>A rs1555396435
NM_000138.5(FBN1):c.5297-1G>T
NM_000138.5(FBN1):c.5297-7T>C
NM_000138.5(FBN1):c.5297-8G>T
NM_000138.5(FBN1):c.5297-8del rs2505479257
NM_000138.5(FBN1):c.529T>C (p.Cys177Arg) rs363853
NM_000138.5(FBN1):c.5300T>C (p.Ile1767Thr) rs2505479219
NM_000138.5(FBN1):c.5305G>A (p.Glu1769Lys) rs2141260472
NM_000138.5(FBN1):c.5309G>A (p.Cys1770Tyr) rs2043241537
NM_000138.5(FBN1):c.530G>A (p.Cys177Tyr) rs113695103
NM_000138.5(FBN1):c.5311dup (p.Arg1771fs) rs1597540923
NM_000138.5(FBN1):c.531dup (p.Glu178Ter) rs1555404800
NM_000138.5(FBN1):c.5326G>A (p.Val1776Ile)
NM_000138.5(FBN1):c.5328C>T (p.Val1776=) rs1555396430
NM_000138.5(FBN1):c.5329T>C (p.Cys1777Arg) rs1597540907
NM_000138.5(FBN1):c.532G>T (p.Glu178Ter)
NM_000138.5(FBN1):c.5330G>A (p.Cys1777Tyr) rs1060501069
NM_000138.5(FBN1):c.5338G>A (p.Gly1780Arg) rs2505479129
NM_000138.5(FBN1):c.5339G>A (p.Gly1780Glu) rs2141260428
NM_000138.5(FBN1):c.5339G>T (p.Gly1780Val) rs2141260428
NM_000138.5(FBN1):c.5343G>C (p.Val1781=) rs140649
NM_000138.5(FBN1):c.5345G>A (p.Cys1782Tyr) rs1555396429
NM_000138.5(FBN1):c.5353_5354del (p.Met1785fs)
NM_000138.5(FBN1):c.5358T>C (p.Val1786=) rs1057521207
NM_000138.5(FBN1):c.5359G>T (p.Gly1787Cys) rs2505479048
NM_000138.5(FBN1):c.5360G>A (p.Gly1787Asp) rs2141260386
NM_000138.5(FBN1):c.5363G>A (p.Ser1788Asn) rs1303042338
NM_000138.5(FBN1):c.5365T>A (p.Phe1789Ile) rs2043240763
NM_000138.5(FBN1):c.5367C>T (p.Phe1789=) rs2505479018
NM_000138.5(FBN1):c.5368C>T (p.Arg1790Ter) rs113249837
NM_000138.5(FBN1):c.5369G>A (p.Arg1790Gln) rs1555396428
NM_000138.5(FBN1):c.5369G>C (p.Arg1790Pro) rs1555396428
NM_000138.5(FBN1):c.5371T>C (p.Cys1791Arg) rs1555396427
NM_000138.5(FBN1):c.5371T>G (p.Cys1791Gly) rs1555396427
NM_000138.5(FBN1):c.5372G>A (p.Cys1791Tyr) rs886038848
NM_000138.5(FBN1):c.5373T>G (p.Cys1791Trp) rs1555396426
NM_000138.5(FBN1):c.5377T>A (p.Cys1793Ser) rs1555396424
NM_000138.5(FBN1):c.5377T>C (p.Cys1793Arg) rs1555396424
NM_000138.5(FBN1):c.5378G>A (p.Cys1793Tyr) rs1597540854
NM_000138.5(FBN1):c.5378G>T (p.Cys1793Phe)
NM_000138.5(FBN1):c.538+12T>A rs767564126
NM_000138.5(FBN1):c.538+12del rs755209856
NM_000138.5(FBN1):c.538+2T>C rs1555404799
NM_000138.5(FBN1):c.5380C>G (p.Pro1794Ala) rs773214940
NM_000138.5(FBN1):c.5386G>T (p.Gly1796Ter)
NM_000138.5(FBN1):c.5387G>T (p.Gly1796Val) rs2043240309
NM_000138.5(FBN1):c.5387del (p.Gly1796fs) rs2043240342
NM_000138.5(FBN1):c.539-10T>C
NM_000138.5(FBN1):c.539-11T>C
NM_000138.5(FBN1):c.539-2A>G rs2141358521
NM_000138.5(FBN1):c.5391C>T (p.Phe1797=) rs775373513
NM_000138.5(FBN1):c.5396dup (p.Tyr1799Ter) rs2505478915
NM_000138.5(FBN1):c.5403C>T (p.Asp1801=) rs1353122877
NM_000138.5(FBN1):c.5404A>C (p.Lys1802Gln) rs2141260313
NM_000138.5(FBN1):c.5405A>G (p.Lys1802Arg) rs886051248
NM_000138.5(FBN1):c.5409G>A (p.Leu1803=) rs906226501
NM_000138.5(FBN1):c.5412G>A (p.Leu1804=) rs1384212101
NM_000138.5(FBN1):c.5416T>C (p.Cys1806Arg) rs1555396419
NM_000138.5(FBN1):c.5416T>G (p.Cys1806Gly) rs1555396419
NM_000138.5(FBN1):c.5416del (p.Cys1806fs) rs1057518912
NM_000138.5(FBN1):c.5417G>T (p.Cys1806Phe) rs1555396418
NM_000138.5(FBN1):c.5418T>G (p.Cys1806Trp) rs2043239853
NM_000138.5(FBN1):c.5422+1G>A rs1064793116
NM_000138.5(FBN1):c.5422+1del rs2141260277
NM_000138.5(FBN1):c.5422+2T>C rs1555396417
NM_000138.5(FBN1):c.5422+452C>T
NM_000138.5(FBN1):c.5422G>A (p.Asp1808Asn)
NM_000138.5(FBN1):c.5422_5422+1delinsTT rs1566901570
NM_000138.5(FBN1):c.5423-16T>C rs1465510931
NM_000138.5(FBN1):c.5423-17T>G rs2505471048
NM_000138.5(FBN1):c.5423-19A>G rs568907285
NM_000138.5(FBN1):c.5423-1G>C rs2505470997
NM_000138.5(FBN1):c.5423-2A>G rs1566900540
NM_000138.5(FBN1):c.5423-30_5423-28del rs56354352
NM_000138.5(FBN1):c.5423A>G (p.Asp1808Gly) rs2141256144
NM_000138.5(FBN1):c.5425A>G (p.Ile1809Val) rs2043210605
NM_000138.5(FBN1):c.5427T>C (p.Ile1809=) rs2141256134
NM_000138.5(FBN1):c.5428G>A (p.Asp1810Asn)
NM_000138.5(FBN1):c.5428G>T (p.Asp1810Tyr) rs2043210566
NM_000138.5(FBN1):c.5429A>T (p.Asp1810Val) rs2043210544
NM_000138.5(FBN1):c.542A>G (p.Tyr181Cys)
NM_000138.5(FBN1):c.5431G>A (p.Glu1811Lys) rs761857514
NM_000138.5(FBN1):c.5431G>T (p.Glu1811Ter) rs761857514
NM_000138.5(FBN1):c.5432A>G (p.Glu1811Gly) rs2141256116
NM_000138.5(FBN1):c.5434T>A (p.Cys1812Ser) rs1597537935
NM_000138.5(FBN1):c.5434T>C (p.Cys1812Arg) rs1597537935
NM_000138.5(FBN1):c.5435G>A (p.Cys1812Tyr) rs1555396213
NM_000138.5(FBN1):c.5435_5436del (p.Cys1812fs) rs2505470919
NM_000138.5(FBN1):c.5437C>T (p.Gln1813Ter) rs397515821
NM_000138.5(FBN1):c.5439G>C (p.Gln1813His) rs2505470901
NM_000138.5(FBN1):c.543C>G (p.Tyr181Ter) rs1597593852
NM_000138.5(FBN1):c.5444del (p.Gly1815fs) rs2141256088
NM_000138.5(FBN1):c.5447C>T (p.Pro1816Leu)
NM_000138.5(FBN1):c.5447del (p.Pro1816fs) rs2505470845
NM_000138.5(FBN1):c.5448A>G (p.Pro1816=) rs2043210295
NM_000138.5(FBN1):c.5452T>G (p.Cys1818Gly) rs2505470826
NM_000138.5(FBN1):c.5453G>A (p.Cys1818Tyr) rs2141256069
NM_000138.5(FBN1):c.5458C>A (p.Arg1820Ser) rs2505470815
NM_000138.5(FBN1):c.5458C>T (p.Arg1820Cys)
NM_000138.5(FBN1):c.5459_5465del (p.Arg1820fs) rs2505470770
NM_000138.5(FBN1):c.545G>A (p.Arg182Lys) rs2044026912
NM_000138.5(FBN1):c.5465C>G (p.Ala1822Gly)
NM_000138.5(FBN1):c.5467_5474dup (p.Ile1825fs) rs2141256027
NM_000138.5(FBN1):c.5470T>C (p.Cys1824Arg) rs1131691478
NM_000138.5(FBN1):c.5470_5483dup (p.Gly1829fs) rs1555396202
NM_000138.5(FBN1):c.5471G>T (p.Cys1824Phe) rs1597537858
NM_000138.5(FBN1):c.5473A>G (p.Ile1825Val) rs2141256032
NM_000138.5(FBN1):c.5475C>T (p.Ile1825=) rs2505470696
NM_000138.5(FBN1):c.5477A>G (p.Asn1826Ser) rs2043210015
NM_000138.5(FBN1):c.5478C>T (p.Asn1826=) rs1213848361
NM_000138.5(FBN1):c.5479A>C (p.Thr1827Pro)
NM_000138.5(FBN1):c.5482G>A (p.Ala1828Thr) rs1566900504
NM_000138.5(FBN1):c.5485G>C (p.Gly1829Arg) rs1597537835
NM_000138.5(FBN1):c.5485G>T (p.Gly1829Cys) rs1597537835
NM_000138.5(FBN1):c.5486dup (p.Ser1830fs) rs2505470638
NM_000138.5(FBN1):c.5488_5511del (p.Ser1830_Pro1837del)
NM_000138.5(FBN1):c.5493C>A (p.Tyr1831Ter) rs1555396201
NM_000138.5(FBN1):c.5493C>G (p.Tyr1831Ter) rs1555396201
NM_000138.5(FBN1):c.5494C>T (p.Arg1832Cys) rs1566900499
NM_000138.5(FBN1):c.5495G>T (p.Arg1832Leu) rs764203302
NM_000138.5(FBN1):c.5498G>A (p.Cys1833Tyr) rs1597537815
NM_000138.5(FBN1):c.5499dup (p.Asp1834Ter) rs1555396199
NM_000138.5(FBN1):c.5502C>T (p.Asp1834=) rs1566900494
NM_000138.5(FBN1):c.5503T>A (p.Cys1835Ser) rs1555396198
NM_000138.5(FBN1):c.5503T>C (p.Cys1835Arg) rs1555396198
NM_000138.5(FBN1):c.5503_5517del (p.Cys1835_Tyr1839del) rs2141255919
NM_000138.5(FBN1):c.5504G>A (p.Cys1835Tyr) rs111929350
NM_000138.5(FBN1):c.5504G>C (p.Cys1835Ser) rs111929350
NM_000138.5(FBN1):c.5504G>T (p.Cys1835Phe) rs111929350
NM_000138.5(FBN1):c.5512G>C (p.Gly1838Arg) rs397515823
NM_000138.5(FBN1):c.5512G>T (p.Gly1838Cys) rs397515823
NM_000138.5(FBN1):c.5513G>A (p.Gly1838Asp) rs78970689
NM_000138.5(FBN1):c.5513del (p.Gly1838fs) rs2141255941
NM_000138.5(FBN1):c.5516A>C (p.Tyr1839Ser) rs758725993
NM_000138.5(FBN1):c.5516A>G (p.Tyr1839Cys) rs758725993
NM_000138.5(FBN1):c.551del (p.Gly184fs) rs2505661649
NM_000138.5(FBN1):c.5520del (p.Phe1841fs) rs1555396188
NM_000138.5(FBN1):c.5521T>C (p.Phe1841Leu) rs2505470481
NM_000138.5(FBN1):c.5525C>T (p.Thr1842Ile) rs1566900477
NM_000138.5(FBN1):c.5528C>T (p.Ser1843Phe) rs2505470453
NM_000138.5(FBN1):c.5532A>G (p.Thr1844=) rs2043209264
NM_000138.5(FBN1):c.5532dup (p.Gly1845fs)
NM_000138.5(FBN1):c.5533G>T (p.Gly1845Ter) rs753858988
NM_000138.5(FBN1):c.5534G>A (p.Gly1845Glu)
NM_000138.5(FBN1):c.5534G>C (p.Gly1845Ala)
NM_000138.5(FBN1):c.5534del (p.Gly1845fs) rs2141255875
NM_000138.5(FBN1):c.5536C>T (p.Gln1846Ter) rs1566900473
NM_000138.5(FBN1):c.5539T>C (p.Cys1847Arg) rs1555396186
NM_000138.5(FBN1):c.5540G>A (p.Cys1847Tyr) rs1555396185
NM_000138.5(FBN1):c.5543A>G (p.Asn1848Ser)
NM_000138.5(FBN1):c.5545+14del rs748182794
NM_000138.5(FBN1):c.5545+16C>T
NM_000138.5(FBN1):c.5545+19G>C rs375420273
NM_000138.5(FBN1):c.5545+1G>A rs1260109901
NM_000138.5(FBN1):c.5545+1_5545+2insAAACAGTTTAAAGGAAAA
NM_000138.5(FBN1):c.5545+1del rs1566900469
NM_000138.5(FBN1):c.5545+2T>C rs2043209059
NM_000138.5(FBN1):c.5545+3A>G rs2505470355
NM_000138.5(FBN1):c.5545+7A>T
NM_000138.5(FBN1):c.5546-11C>G rs2043179881
NM_000138.5(FBN1):c.5546-15G>A rs2505463674
NM_000138.5(FBN1):c.5546-1G>A rs1566899590
NM_000138.5(FBN1):c.5546-3C>G rs2505463650
NM_000138.5(FBN1):c.5546-8A>T rs2505463664
NM_000138.5(FBN1):c.5549G>T (p.Arg1850Leu) rs779174265
NM_000138.5(FBN1):c.554C>T (p.Pro185Leu) rs2044026856
NM_000138.5(FBN1):c.554_556del (p.Pro185_Cys186delinsArg) rs1555401701
NM_000138.5(FBN1):c.5552A>G (p.Asn1851Ser) rs193922214
NM_000138.5(FBN1):c.5555A>C (p.Glu1852Ala) rs864622676
NM_000138.5(FBN1):c.5555A>G (p.Glu1852Gly) rs864622676
NM_000138.5(FBN1):c.5557T>A (p.Cys1853Ser) rs1555395990
NM_000138.5(FBN1):c.5557T>C (p.Cys1853Arg) rs1555395990
NM_000138.5(FBN1):c.5558G>A (p.Cys1853Tyr) rs1555395989
NM_000138.5(FBN1):c.5558G>C (p.Cys1853Ser) rs1555395989
NM_000138.5(FBN1):c.5559T>G (p.Cys1853Trp) rs2505463592
NM_000138.5(FBN1):c.555A>G (p.Pro185=) rs1597593844
NM_000138.5(FBN1):c.5560C>T (p.Gln1854Ter) rs2141252259
NM_000138.5(FBN1):c.5562A>G (p.Gln1854=)
NM_000138.5(FBN1):c.5563G>T (p.Glu1855Ter) rs2505463495
NM_000138.5(FBN1):c.5566A>G (p.Ile1856Val) rs2141252254
NM_000138.5(FBN1):c.5569C>T (p.Pro1857Ser) rs2043179615
NM_000138.5(FBN1):c.5571del (p.Asn1858fs) rs1597535305
NM_000138.5(FBN1):c.5573A>C (p.Asn1858Thr) rs751472490
NM_000138.5(FBN1):c.5575A>G (p.Ile1859Val) rs2505463440
NM_000138.5(FBN1):c.5576T>C (p.Ile1859Thr) rs2505463435
NM_000138.5(FBN1):c.5577dup (p.Cys1860fs) rs2505463433
NM_000138.5(FBN1):c.5578T>C (p.Cys1860Arg) rs2505463427
NM_000138.5(FBN1):c.5579G>A (p.Cys1860Tyr) rs1597535300
NM_000138.5(FBN1):c.557G>A (p.Cys186Tyr) rs2505661631
NM_000138.5(FBN1):c.5581A>C (p.Ser1861Arg) rs2141252219
NM_000138.5(FBN1):c.5586T>C (p.His1862=) rs2505463379
NM_000138.5(FBN1):c.5587G>A (p.Gly1863Arg) rs1555395987
NM_000138.5(FBN1):c.5588G>A (p.Gly1863Glu) rs113086760
NM_000138.5(FBN1):c.5590C>T (p.Gln1864Ter) rs1555395985
NM_000138.5(FBN1):c.5593T>C (p.Cys1865Arg) rs1555395984
NM_000138.5(FBN1):c.5593T>G (p.Cys1865Gly)
NM_000138.5(FBN1):c.5597T>C (p.Ile1866Thr) rs773133679
NM_000138.5(FBN1):c.5603C>G (p.Thr1868Arg) rs145082616
NM_000138.5(FBN1):c.5604A>G (p.Thr1868=) rs2505463299
NM_000138.5(FBN1):c.5607T>C (p.Val1869=) rs1597535252
NM_000138.5(FBN1):c.5607dup (p.Gly1870fs) rs2505463293
NM_000138.5(FBN1):c.5612_5613del (p.Ser1871fs) rs1555395981
NM_000138.5(FBN1):c.5613C>A (p.Ser1871Arg) rs776310363
NM_000138.5(FBN1):c.5613del (p.Tyr1873fs) rs1566899541
NM_000138.5(FBN1):c.5619T>C (p.Tyr1873=) rs886038772
NM_000138.5(FBN1):c.561del (p.Phe187fs) rs397515825
NM_000138.5(FBN1):c.5620T>C (p.Cys1874Arg) rs2505463243
NM_000138.5(FBN1):c.5621G>T (p.Cys1874Phe) rs2141252159
NM_000138.5(FBN1):c.5622C>T (p.Cys1874=)
NM_000138.5(FBN1):c.5626T>C (p.Cys1876Arg) rs1555395980
NM_000138.5(FBN1):c.5627G>A (p.Cys1876Tyr) rs112728248
NM_000138.5(FBN1):c.5627G>C (p.Cys1876Ser) rs112728248
NM_000138.5(FBN1):c.5628C>G (p.Cys1876Trp) rs2141252143
NM_000138.5(FBN1):c.5633C>T (p.Thr1878Ile) rs1875596979
NM_000138.5(FBN1):c.5635_5636del (p.Gly1879fs) rs1555395978
NM_000138.5(FBN1):c.5636G>A (p.Gly1879Asp) rs2043178850
NM_000138.5(FBN1):c.5636G>T (p.Gly1879Val)
NM_000138.5(FBN1):c.5637T>G (p.Gly1879=) rs2043178820
NM_000138.5(FBN1):c.5638T>G (p.Phe1880Val) rs1555395977
NM_000138.5(FBN1):c.5639T>C (p.Phe1880Ser) rs1597535186
NM_000138.5(FBN1):c.5650G>A (p.Asp1884Asn)
NM_000138.5(FBN1):c.5651A>T (p.Asp1884Val) rs2505463151
NM_000138.5(FBN1):c.5655C>G (p.Asp1885Glu) rs2505463135
NM_000138.5(FBN1):c.5656C>T (p.Gln1886Ter) rs1038114901
NM_000138.5(FBN1):c.5659del (p.Thr1887fs)
NM_000138.5(FBN1):c.565del (p.Thr188_Val189insTer) rs2141358467
NM_000138.5(FBN1):c.5664G>A (p.Met1888Ile) rs1060501056
NM_000138.5(FBN1):c.5666G>A (p.Cys1889Tyr) rs1566899500
NM_000138.5(FBN1):c.5666G>T (p.Cys1889Phe) rs1566899500
NM_000138.5(FBN1):c.5667C>G (p.Cys1889Trp) rs2505463082
NM_000138.5(FBN1):c.5667_5668insTTGGA (p.Ile1892fs) rs2505463062
NM_000138.5(FBN1):c.5671+1G>A rs112104270
NM_000138.5(FBN1):c.5671+1G>T rs112104270
NM_000138.5(FBN1):c.5671+2T>C rs2505463040
NM_000138.5(FBN1):c.5671+5G>A
NM_000138.5(FBN1):c.5671+6T>A rs2505463024
NM_000138.5(FBN1):c.5671+773C>G
NM_000138.5(FBN1):c.5671G>A (p.Asp1891Asn) rs193922216
NM_000138.5(FBN1):c.5671G>C (p.Asp1891His) rs193922216
NM_000138.5(FBN1):c.5671G>T (p.Asp1891Tyr) rs193922216
NM_000138.5(FBN1):c.5672-14T>C rs1217778242
NM_000138.5(FBN1):c.5672-1G>A rs1555395849
NM_000138.5(FBN1):c.5672-2A>G rs1060501053
NM_000138.5(FBN1):c.5672-2A>T rs1060501053
NM_000138.5(FBN1):c.5672-3T>C rs193922217
NM_000138.5(FBN1):c.5672-4C>G rs2505458953
NM_000138.5(FBN1):c.5672-5A>G rs2505458955
NM_000138.5(FBN1):c.5672-6T>A rs1555395850
NM_000138.5(FBN1):c.5672-87A>G rs1060501029
NM_000138.5(FBN1):c.5672-8C>G rs2141250478
NM_000138.5(FBN1):c.5674A>T (p.Ile1892Leu) rs760170973
NM_000138.5(FBN1):c.5674del (p.Asp1891_Ile1892insTer) rs2505458910
NM_000138.5(FBN1):c.5675_5676del (p.Ile1892fs) rs1597533713
NM_000138.5(FBN1):c.5678A>G (p.Asn1893Ser) rs1597533707
NM_000138.5(FBN1):c.5679T>G (p.Asn1893Lys) rs1597533706
NM_000138.5(FBN1):c.5680G>A (p.Glu1894Lys) rs1057521101
NM_000138.5(FBN1):c.5683T>C (p.Cys1895Arg) rs878853686
NM_000138.5(FBN1):c.5684G>A (p.Cys1895Tyr) rs2505458840
NM_000138.5(FBN1):c.5684del (p.Cys1895fs) rs1555395846
NM_000138.5(FBN1):c.5685T>G (p.Cys1895Trp)
NM_000138.5(FBN1):c.5686del (p.Glu1896fs) rs1064793374
NM_000138.5(FBN1):c.5688_5689del (p.Asp1898fs) rs1555395843
NM_000138.5(FBN1):c.5688_5691del (p.Arg1897fs) rs1566898828
NM_000138.5(FBN1):c.5695del (p.Ala1899fs) rs2043163540
NM_000138.5(FBN1):c.5697C>T (p.Ala1899=) rs772617187
NM_000138.5(FBN1):c.5698T>C (p.Cys1900Arg) rs1555395840
NM_000138.5(FBN1):c.5699G>A (p.Cys1900Tyr) rs794728237
NM_000138.5(FBN1):c.5699G>T (p.Cys1900Phe) rs794728237
NM_000138.5(FBN1):c.5703del (p.Asn1902fs) rs2505458686
NM_000138.5(FBN1):c.5706T>C (p.Asn1902=) rs1597533673
NM_000138.5(FBN1):c.5708G>T (p.Gly1903Val) rs2505458656
NM_000138.5(FBN1):c.570C>T (p.Ile190=) rs2505661609
NM_000138.5(FBN1):c.5711C>T (p.Thr1904Ile) rs1269096957
NM_000138.5(FBN1):c.5714G>C (p.Cys1905Ser) rs112655848
NM_000138.5(FBN1):c.5714G>T (p.Cys1905Phe) rs112655848
NM_000138.5(FBN1):c.5716del (p.Arg1906fs) rs2141250394
NM_000138.5(FBN1):c.5718G>C (p.Arg1906=) rs1403178913
NM_000138.5(FBN1):c.5719A>G (p.Asn1907Asp) rs397515824
NM_000138.5(FBN1):c.5720A>G (p.Asn1907Ser) rs1060501087
NM_000138.5(FBN1):c.5721C>G (p.Asn1907Lys) rs397515826
NM_000138.5(FBN1):c.5721C>T (p.Asn1907=) rs397515826
NM_000138.5(FBN1):c.5722A>C (p.Thr1908Pro) rs1555395834
NM_000138.5(FBN1):c.5723C>T (p.Thr1908Ile) rs1304811982
NM_000138.5(FBN1):c.5725A>C (p.Ile1909Leu) rs886038785
NM_000138.5(FBN1):c.5725A>G (p.Ile1909Val) rs886038785
NM_000138.5(FBN1):c.5726T>C (p.Ile1909Thr) rs794728333
NM_000138.5(FBN1):c.5728G>T (p.Gly1910Cys) rs1597533619
NM_000138.5(FBN1):c.5729G>T (p.Gly1910Val) rs1566898786
NM_000138.5(FBN1):c.5732C>T (p.Ser1911Phe)
NM_000138.5(FBN1):c.5734_5736del (p.Phe1912del) rs2505458480
NM_000138.5(FBN1):c.5735T>C (p.Phe1912Ser) rs1555395830
NM_000138.5(FBN1):c.5736C>G (p.Phe1912Leu) rs1555395829
NM_000138.5(FBN1):c.5740T>G (p.Cys1914Gly) rs2141250333
NM_000138.5(FBN1):c.5741G>A (p.Cys1914Tyr) rs1555395827
NM_000138.5(FBN1):c.5741G>T (p.Cys1914Phe) rs1555395827
NM_000138.5(FBN1):c.5743C>A (p.Arg1915Ser) rs1555395826
NM_000138.5(FBN1):c.5743C>T (p.Arg1915Cys) rs1555395826
NM_000138.5(FBN1):c.5744G>A (p.Arg1915His) rs2043162615
NM_000138.5(FBN1):c.5746T>G (p.Cys1916Gly) rs794728238
NM_000138.5(FBN1):c.5746_5748dup (p.Cys1916dup) rs1597533588
NM_000138.5(FBN1):c.5747G>A (p.Cys1916Tyr) rs397515827
NM_000138.5(FBN1):c.5747G>T (p.Cys1916Phe) rs397515827
NM_000138.5(FBN1):c.5755G>A (p.Gly1919Ser) rs867549163
NM_000138.5(FBN1):c.5756G>A (p.Gly1919Asp)
NM_000138.5(FBN1):c.5756G>T (p.Gly1919Val)
NM_000138.5(FBN1):c.5756del (p.Gly1919fs) rs1555395825
NM_000138.5(FBN1):c.5762T>G (p.Ile1921Ser) rs2043162407
NM_000138.5(FBN1):c.5770C>A (p.His1924Asn) rs1201849394
NM_000138.5(FBN1):c.5770C>T (p.His1924Tyr)
NM_000138.5(FBN1):c.5772CAA[1] (p.Asn1926del) rs2505458230
NM_000138.5(FBN1):c.5774A>G (p.Asn1925Ser) rs781395141
NM_000138.5(FBN1):c.577C>T (p.Gln193Ter)
NM_000138.5(FBN1):c.577_583delinsAA (p.Gln193fs) rs2044026528
NM_000138.5(FBN1):c.577del (p.Gln193fs) rs1555401697
NM_000138.5(FBN1):c.5782T>C (p.Cys1928Arg) rs2043162224
NM_000138.5(FBN1):c.5783G>A (p.Cys1928Tyr) rs587782947
NM_000138.5(FBN1):c.5783G>C (p.Cys1928Ser)
NM_000138.5(FBN1):c.5783G>T (p.Cys1928Phe) rs587782947
NM_000138.5(FBN1):c.5786T>C (p.Ile1929Thr) rs750411851
NM_000138.5(FBN1):c.5788+10del rs761983874
NM_000138.5(FBN1):c.5788+13_5788+14del rs886038252
NM_000138.5(FBN1):c.5788+15T>A rs543458649
NM_000138.5(FBN1):c.5788+15T>C rs543458649
NM_000138.5(FBN1):c.5788+1G>A rs1555395819
NM_000138.5(FBN1):c.5788+1G>T rs1555395819
NM_000138.5(FBN1):c.5788+2T>C rs1555395818
NM_000138.5(FBN1):c.5788+36C>A rs1555395814
NM_000138.5(FBN1):c.5788+3G>A
NM_000138.5(FBN1):c.5788+4C>A rs577301285
NM_000138.5(FBN1):c.5788+5G>C rs193922219
NM_000138.5(FBN1):c.5788+5G>T rs193922219
NM_000138.5(FBN1):c.5788+6T>G rs1566898741
NM_000138.5(FBN1):c.5788G>A (p.Asp1930Asn) rs1555395820
NM_000138.5(FBN1):c.5788G>C (p.Asp1930His) rs1555395820
NM_000138.5(FBN1):c.5788G>T (p.Asp1930Tyr) rs1555395820
NM_000138.5(FBN1):c.5789-10T>A rs2141249325
NM_000138.5(FBN1):c.5789-11T>G rs2505455787
NM_000138.5(FBN1):c.5789-13G>A rs777593835
NM_000138.5(FBN1):c.5789-14G>A rs2505455800
NM_000138.5(FBN1):c.5789-15G>A
NM_000138.5(FBN1):c.5789-1G>A rs2043152080
NM_000138.5(FBN1):c.5789-1G>C
NM_000138.5(FBN1):c.5789A>G (p.Asp1930Gly) rs2505455752
NM_000138.5(FBN1):c.5789_5790del (p.Asp1930fs)
NM_000138.5(FBN1):c.5791G>A (p.Val1931Ile) rs1555395768
NM_000138.5(FBN1):c.5792_5794del (p.Val1931del)
NM_000138.5(FBN1):c.5795A>C (p.Asp1932Ala) rs1329934461
NM_000138.5(FBN1):c.5797G>A (p.Glu1933Lys) rs2141249307
NM_000138.5(FBN1):c.5800T>A (p.Cys1934Ser) rs1555395767
NM_000138.5(FBN1):c.5800T>C (p.Cys1934Arg) rs1555395767
NM_000138.5(FBN1):c.5801G>A (p.Cys1934Tyr) rs794728240
NM_000138.5(FBN1):c.5801G>C (p.Cys1934Ser) rs794728240
NM_000138.5(FBN1):c.5802T>G (p.Cys1934Trp) rs2141249297
NM_000138.5(FBN1):c.5806A>G (p.Ser1936Gly) rs869025409
NM_000138.5(FBN1):c.5809G>A (p.Gly1937Arg) rs1555395766
NM_000138.5(FBN1):c.5809G>T (p.Gly1937Ter) rs1555395766
NM_000138.5(FBN1):c.5810G>A (p.Gly1937Glu) rs1566898444
NM_000138.5(FBN1):c.5815G>T (p.Gly1939Trp) rs2505455650
NM_000138.5(FBN1):c.5817del (p.Asn1940fs) rs794728311
NM_000138.5(FBN1):c.5821C>T (p.Leu1941Phe) rs1555395763
NM_000138.5(FBN1):c.5823_5824del (p.Cys1942fs) rs1060501089
NM_000138.5(FBN1):c.5824T>A (p.Cys1942Ser) rs1555395762
NM_000138.5(FBN1):c.5824T>C (p.Cys1942Arg) rs1555395762
NM_000138.5(FBN1):c.5824T>G (p.Cys1942Gly) rs1555395762
NM_000138.5(FBN1):c.5825G>A (p.Cys1942Tyr) rs794728241
NM_000138.5(FBN1):c.5826C>A (p.Cys1942Ter) rs363806
NM_000138.5(FBN1):c.5828G>T (p.Arg1943Ile) rs1566898433
NM_000138.5(FBN1):c.5831del (p.Asn1944fs) rs2043151619
NM_000138.5(FBN1):c.5834G>A (p.Gly1945Asp) rs1555395760
NM_000138.5(FBN1):c.5836C>T (p.Gln1946Ter) rs2505455537
NM_000138.5(FBN1):c.5836del (p.Gln1946fs) rs2141249251
NM_000138.5(FBN1):c.5838A>G (p.Gln1946=) rs759049300
NM_000138.5(FBN1):c.5839T>A (p.Cys1947Ser) rs1131691938
NM_000138.5(FBN1):c.5839T>C (p.Cys1947Arg) rs1131691938
NM_000138.5(FBN1):c.5839T>G (p.Cys1947Gly) rs1131691938
NM_000138.5(FBN1):c.5840G>A (p.Cys1947Tyr) rs397515828
NM_000138.5(FBN1):c.5846A>G (p.Asn1949Ser)
NM_000138.5(FBN1):c.5846_5850dup (p.Val1951fs) rs2043151379
NM_000138.5(FBN1):c.5848A>G (p.Thr1950Ala) rs2505455478
NM_000138.5(FBN1):c.5850A>G (p.Thr1950=) rs2043151355
NM_000138.5(FBN1):c.5854G>T (p.Gly1952Trp)
NM_000138.5(FBN1):c.5855G>T (p.Gly1952Val) rs2141249218
NM_000138.5(FBN1):c.5856G>T (p.Gly1952=) rs763490270
NM_000138.5(FBN1):c.5856del (p.Ser1953fs) rs2505455435
NM_000138.5(FBN1):c.5857dup (p.Ser1953fs) rs1555395757
NM_000138.5(FBN1):c.5860_5863dup (p.Gln1955fs) rs2043151079
NM_000138.5(FBN1):c.5861T>G (p.Phe1954Cys) rs730880104
NM_000138.5(FBN1):c.5861del (p.Phe1954fs) rs1555395756
NM_000138.5(FBN1):c.5862C>G (p.Phe1954Leu) rs2043151100
NM_000138.5(FBN1):c.5863C>T (p.Gln1955Ter) rs363807
NM_000138.5(FBN1):c.5863CAGTGC[1] (p.1955QC[1]) rs2505455308
NM_000138.5(FBN1):c.5863del (p.Gln1955fs) rs1555395753
NM_000138.5(FBN1):c.5864A>G (p.Gln1955Arg) rs2043150977
NM_000138.5(FBN1):c.5865G>T (p.Gln1955His) rs1292712431
NM_000138.5(FBN1):c.5869C>T (p.Gln1957Ter) rs397515829
NM_000138.5(FBN1):c.5871G>A (p.Gln1957=)
NM_000138.5(FBN1):c.5872T>A (p.Cys1958Ser) rs2141249174
NM_000138.5(FBN1):c.5872T>C (p.Cys1958Arg)
NM_000138.5(FBN1):c.5874C>A (p.Cys1958Ter) rs1555395750
NM_000138.5(FBN1):c.5885A>G (p.Tyr1962Cys) rs1346043320
NM_000138.5(FBN1):c.5885dup (p.Tyr1962Ter) rs2505455250
NM_000138.5(FBN1):c.5887del (p.Glu1963fs)
NM_000138.5(FBN1):c.5888del (p.Glu1963fs) rs727504315
NM_000138.5(FBN1):c.5892G>A (p.Val1964=) rs2505455208
NM_000138.5(FBN1):c.5896C>G (p.Pro1966Ala) rs2141249124
NM_000138.5(FBN1):c.5898del (p.Asp1967fs) rs1555395747
NM_000138.5(FBN1):c.589G>C (p.Gly197Arg) rs886051251
NM_000138.5(FBN1):c.5902G>A (p.Gly1968Arg) rs768997549
NM_000138.5(FBN1):c.5905del (p.Arg1969fs) rs1566898399
NM_000138.5(FBN1):c.590del (p.Gly197fs) rs1555401695
NM_000138.5(FBN1):c.5911T>C (p.Cys1971Arg) rs1555395745
NM_000138.5(FBN1):c.5911T>G (p.Cys1971Gly) rs1555395745
NM_000138.5(FBN1):c.5912G>A (p.Cys1971Tyr) rs111239111
NM_000138.5(FBN1):c.5912del (p.Cys1971fs) rs2043150170
NM_000138.5(FBN1):c.5917+13C>G
NM_000138.5(FBN1):c.5917+15del rs1324741719
NM_000138.5(FBN1):c.5917+1G>A rs363808
NM_000138.5(FBN1):c.5917+1G>T rs363808
NM_000138.5(FBN1):c.5917+1_5917+11del rs2141249066
NM_000138.5(FBN1):c.5917+20A>G rs2043149804
NM_000138.5(FBN1):c.5917+3A>C rs202158568
NM_000138.5(FBN1):c.5917+5G>A rs1555395743
NM_000138.5(FBN1):c.5917+5G>T rs1555395743
NM_000138.5(FBN1):c.5917+6T>C rs1555395742
NM_000138.5(FBN1):c.5917+8C>T rs1566898389
NM_000138.5(FBN1):c.5918-1G>A rs1566898144
NM_000138.5(FBN1):c.5918-1G>C rs1566898144
NM_000138.5(FBN1):c.5918-2A>G rs869025418
NM_000138.5(FBN1):c.5918-6T>C rs2043140413
NM_000138.5(FBN1):c.5918-9T>C
NM_000138.5(FBN1):c.5918A>G (p.Asp1973Gly) rs794728242
NM_000138.5(FBN1):c.5919dup (p.Ile1974fs) rs1555395670
NM_000138.5(FBN1):c.5920A>G (p.Ile1974Val)
NM_000138.5(FBN1):c.5924A>G (p.Asn1975Ser) rs2141248181
NM_000138.5(FBN1):c.5925T>A (p.Asn1975Lys) rs1555395667
NM_000138.5(FBN1):c.5926G>A (p.Glu1976Lys) rs2505452295
NM_000138.5(FBN1):c.5926del (p.Glu1976fs) rs2505452301
NM_000138.5(FBN1):c.5927A>C (p.Glu1976Ala) rs1555395665
NM_000138.5(FBN1):c.5927A>G (p.Glu1976Gly) rs1555395665
NM_000138.5(FBN1):c.5929T>A (p.Cys1977Ser) rs2141248174
NM_000138.5(FBN1):c.592C>T (p.Gln198Ter) rs1060501035
NM_000138.5(FBN1):c.5930G>A (p.Cys1977Tyr) rs1555395663
NM_000138.5(FBN1):c.5931T>A (p.Cys1977Ter) rs2505452256
NM_000138.5(FBN1):c.5936T>C (p.Leu1979Pro) rs1333100611
NM_000138.5(FBN1):c.5937A>G (p.Leu1979=)
NM_000138.5(FBN1):c.5937_5938insT (p.Glu1980Ter) rs2141248157
NM_000138.5(FBN1):c.5938G>C (p.Glu1980Gln) rs370940450
NM_000138.5(FBN1):c.5943del (p.Arg1982fs) rs1555395661
NM_000138.5(FBN1):c.5950T>C (p.Cys1984Arg) rs1555395659
NM_000138.5(FBN1):c.5951G>A (p.Cys1984Tyr) rs1555395658
NM_000138.5(FBN1):c.5952T>G (p.Cys1984Trp) rs2505452160
NM_000138.5(FBN1):c.5956_5957insA (p.Pro1986fs) rs2141248130
NM_000138.5(FBN1):c.5959G>C (p.Gly1987Arg) rs727504642
NM_000138.5(FBN1):c.5959G>T (p.Gly1987Cys) rs727504642
NM_000138.5(FBN1):c.595C>T (p.Leu199Phe) rs1221144366
NM_000138.5(FBN1):c.5960G>C (p.Gly1987Ala) rs2043140093
NM_000138.5(FBN1):c.5961dup (p.Thr1988fs) rs1555395653
NM_000138.5(FBN1):c.5965T>A (p.Cys1989Ser) rs2043139988
NM_000138.5(FBN1):c.5965T>G (p.Cys1989Gly) rs2043139988
NM_000138.5(FBN1):c.5966G>C (p.Cys1989Ser) rs1597531796
NM_000138.5(FBN1):c.5966G>T (p.Cys1989Phe) rs1597531796
NM_000138.5(FBN1):c.5967T>G (p.Cys1989Trp) rs1555395652
NM_000138.5(FBN1):c.5968C>T (p.Gln1990Ter)
NM_000138.5(FBN1):c.5971A>C (p.Asn1991His) rs794728243
NM_000138.5(FBN1):c.5971_5972del (p.Asn1991fs) rs2505452026
NM_000138.5(FBN1):c.5976G>C (p.Leu1992Phe) rs2505452015
NM_000138.5(FBN1):c.5978del (p.Asp1993fs) rs2043139896
NM_000138.5(FBN1):c.5980_5981delinsTT (p.Gly1994Leu) rs1597531779
NM_000138.5(FBN1):c.5981G>A (p.Gly1994Glu) rs1484900122
NM_000138.5(FBN1):c.5981G>C (p.Gly1994Ala) rs1484900122
NM_000138.5(FBN1):c.5981G>T (p.Gly1994Val) rs1484900122
NM_000138.5(FBN1):c.5983T>C (p.Ser1995Pro) rs1555395649
NM_000138.5(FBN1):c.5986T>C (p.Tyr1996His) rs2505451959
NM_000138.5(FBN1):c.5992T>A (p.Cys1998Ser) rs2141248056
NM_000138.5(FBN1):c.5993G>A (p.Cys1998Tyr) rs1085307531
NM_000138.5(FBN1):c.5993G>T (p.Cys1998Phe) rs1085307531
NM_000138.5(FBN1):c.5994C>G (p.Cys1998Trp) rs1555395648
NM_000138.5(FBN1):c.5994C>T (p.Cys1998=) rs1555395648
NM_000138.5(FBN1):c.5998del (p.Cys2000fs) rs1367820520
NM_000138.5(FBN1):c.5999G>A (p.Cys2000Tyr) rs1555395645
NM_000138.5(FBN1):c.6004C>T (p.Pro2002Ser) rs1057519320
NM_000138.5(FBN1):c.6006_6012dup (p.Ser2005fs) rs193922220
NM_000138.5(FBN1):c.6012C>G (p.Tyr2004Ter) rs2505451856
NM_000138.5(FBN1):c.6012_6013del (p.Tyr2004_Ser2005delinsTer) rs2505451851
NM_000138.5(FBN1):c.6013_6014insTA (p.Ser2005fs) rs2505451845
NM_000138.5(FBN1):c.6015T>C (p.Ser2005=) rs1270928447
NM_000138.5(FBN1):c.6019C>T (p.Gln2007Ter) rs1555395641
NM_000138.5(FBN1):c.6023del (p.Asn2008fs) rs1555395640
NM_000138.5(FBN1):c.6024T>G (p.Asn2008Lys)
NM_000138.5(FBN1):c.6029del (p.Lys2010fs) rs2141248004
NM_000138.5(FBN1):c.6030del (p.Lys2010fs) rs2505451768
NM_000138.5(FBN1):c.6031T>C (p.Cys2011Arg) rs2141248001
NM_000138.5(FBN1):c.6032G>A (p.Cys2011Tyr) rs886038967
NM_000138.5(FBN1):c.6034G>T (p.Glu2012Ter) rs2141247988
NM_000138.5(FBN1):c.6036A>G (p.Glu2012=) rs1597531690
NM_000138.5(FBN1):c.6037+10C>T rs2141247970
NM_000138.5(FBN1):c.6037+11_6037+12delinsCT rs2505451665
NM_000138.5(FBN1):c.6037+16G>A rs2505451644
NM_000138.5(FBN1):c.6037+17T>C rs2043139068
NM_000138.5(FBN1):c.6037+18T>G
NM_000138.5(FBN1):c.6037+2T>C rs2043139226
NM_000138.5(FBN1):c.6037+2_6037+24del rs1555395636
NM_000138.5(FBN1):c.6037+9G>A rs2505451687
NM_000138.5(FBN1):c.6037G>A (p.Asp2013Asn) rs1555395638
NM_000138.5(FBN1):c.6037G>C (p.Asp2013His) rs1555395638
NM_000138.5(FBN1):c.6038-14T>C rs369107058
NM_000138.5(FBN1):c.6038-14T>G
NM_000138.5(FBN1):c.6038-17T>C
NM_000138.5(FBN1):c.6038-1G>A rs1555395489
NM_000138.5(FBN1):c.6038-23_6038-20del rs1445333288
NM_000138.5(FBN1):c.6038-3T>C rs2043117848
NM_000138.5(FBN1):c.6038-3del
NM_000138.5(FBN1):c.6038A>G (p.Asp2013Gly) rs869025410
NM_000138.5(FBN1):c.6038A>T (p.Asp2013Val) rs869025410
NM_000138.5(FBN1):c.6038_6040dup (p.Asp2013_Ile2014insAsn) rs1597529929
NM_000138.5(FBN1):c.603del (p.Ile202fs) rs2141358361
NM_000138.5(FBN1):c.6046G>A (p.Glu2016Lys) rs2141245531
NM_000138.5(FBN1):c.6048G>A (p.Glu2016=) rs991367684
NM_000138.5(FBN1):c.6048_6056del (p.Cys2017_Glu2019del) rs1555395483
NM_000138.5(FBN1):c.6049T>C (p.Cys2017Arg) rs1555395486
NM_000138.5(FBN1):c.6050G>A (p.Cys2017Tyr) rs2141245523
NM_000138.5(FBN1):c.6051T>G (p.Cys2017Trp) rs1566897420
NM_000138.5(FBN1):c.6052_6053del (p.Val2018fs) rs2043117611
NM_000138.5(FBN1):c.6054C>G (p.Val2018=) rs542953863
NM_000138.5(FBN1):c.6059_6080del (p.Glu2020fs) rs2505446232
NM_000138.5(FBN1):c.6060G>A (p.Glu2020=) rs1597529860
NM_000138.5(FBN1):c.6064G>T (p.Glu2022Ter) rs1555395482
NM_000138.5(FBN1):c.6067del (p.Ile2023fs) rs1597529841
NM_000138.5(FBN1):c.6068_6069insCCCTT (p.Cys2024fs) rs2141245482
NM_000138.5(FBN1):c.6070dup (p.Cys2024fs) rs1597529829
NM_000138.5(FBN1):c.6071G>A (p.Cys2024Tyr) rs1597529826
NM_000138.5(FBN1):c.6071G>T (p.Cys2024Phe) rs1597529826
NM_000138.5(FBN1):c.6073G>A (p.Ala2025Thr) rs113577372
NM_000138.5(FBN1):c.6073_6090del (p.Ala2025_Ser2030del)
NM_000138.5(FBN1):c.6079G>T (p.Gly2027Cys) rs1566897404
NM_000138.5(FBN1):c.6080del (p.Gly2027fs) rs1555395480
NM_000138.5(FBN1):c.6082A>C (p.Thr2028Pro) rs2505446219
NM_000138.5(FBN1):c.6083C>T (p.Thr2028Ile)
NM_000138.5(FBN1):c.6084A>G (p.Thr2028=) rs1597529803
NM_000138.5(FBN1):c.6086G>A (p.Cys2029Tyr) rs1057517855
NM_000138.5(FBN1):c.6087C>A (p.Cys2029Ter) rs1555395475
NM_000138.5(FBN1):c.6087C>G (p.Cys2029Trp) rs1555395475
NM_000138.5(FBN1):c.6087C>T (p.Cys2029=) rs1555395475
NM_000138.5(FBN1):c.6088A>G (p.Ser2030Gly)
NM_000138.5(FBN1):c.6088A>T (p.Ser2030Cys)
NM_000138.5(FBN1):c.6090dup (p.Asn2031Ter) rs1597529775
NM_000138.5(FBN1):c.6092A>T (p.Asn2031Ile)
NM_000138.5(FBN1):c.6096T>A (p.Thr2032=) rs2505446169
NM_000138.5(FBN1):c.609_630del (p.Cys204fs) rs2505661421
NM_000138.5(FBN1):c.6110A>C (p.Lys2037Thr) rs556131403
NM_000138.5(FBN1):c.6113G>C (p.Cys2038Ser) rs363804
NM_000138.5(FBN1):c.6113del (p.Cys2038fs) rs2141245408
NM_000138.5(FBN1):c.6114T>G (p.Cys2038Trp)
NM_000138.5(FBN1):c.6118T>C (p.Cys2040Arg) rs1597529748
NM_000138.5(FBN1):c.6119G>A (p.Cys2040Tyr) rs397515830
NM_000138.5(FBN1):c.6120T>C (p.Cys2040=) rs193922221
NM_000138.5(FBN1):c.6120T>G (p.Cys2040Trp) rs193922221
NM_000138.5(FBN1):c.6121_6130del (p.Pro2041fs) rs2043116708
NM_000138.5(FBN1):c.6122C>T (p.Pro2041Leu) rs2505446069
NM_000138.5(FBN1):c.6123A>G (p.Pro2041=) rs2505446066
NM_000138.5(FBN1):c.6126del (p.Ser2045fs) rs2505446051
NM_000138.5(FBN1):c.6129G>T (p.Gly2043=) rs766473100
NM_000138.5(FBN1):c.6130T>G (p.Phe2044Val) rs2043116688
NM_000138.5(FBN1):c.6139del (p.Ser2047fs) rs2043116624
NM_000138.5(FBN1):c.6140C>T (p.Ser2047Phe) rs1060501046
NM_000138.5(FBN1):c.6141C>T (p.Ser2047=) rs2141245369
NM_000138.5(FBN1):c.6145del (p.Ser2049fs) rs2505445952
NM_000138.5(FBN1):c.6147T>G (p.Ser2049Arg) rs553959381
NM_000138.5(FBN1):c.6149del (p.Gly2050fs) rs1597529686
NM_000138.5(FBN1):c.6151A>T (p.Arg2051Ter) rs2505445905
NM_000138.5(FBN1):c.6151dup (p.Arg2051fs) rs2505445912
NM_000138.5(FBN1):c.6155G>C (p.Arg2052Thr) rs1452793240
NM_000138.5(FBN1):c.6156G>A (p.Arg2052=) rs2505445890
NM_000138.5(FBN1):c.6157T>A (p.Cys2053Ser) rs2505445884
NM_000138.5(FBN1):c.6158G>A (p.Cys2053Tyr) rs363805
NM_000138.5(FBN1):c.6159C>A (p.Cys2053Ter) rs1060501095
NM_000138.5(FBN1):c.6160C>T (p.Gln2054Ter) rs1555395456
NM_000138.5(FBN1):c.6161A>G (p.Gln2054Arg) rs2043116342
NM_000138.5(FBN1):c.6162A>G (p.Gln2054=) rs2505445852
NM_000138.5(FBN1):c.6163+14A>G
NM_000138.5(FBN1):c.6163+1G>A rs1566897374
NM_000138.5(FBN1):c.6163+1G>T
NM_000138.5(FBN1):c.6163+1_6163+2del rs2505445838
NM_000138.5(FBN1):c.6163+6dup
NM_000138.5(FBN1):c.6163+8T>G rs1432677455
NM_000138.5(FBN1):c.6164-15A>G rs2505439006
NM_000138.5(FBN1):c.6164-1G>A rs1060501048
NM_000138.5(FBN1):c.6164-1G>C rs1060501048
NM_000138.5(FBN1):c.6164-1G>T rs1060501048
NM_000138.5(FBN1):c.6164-2A>G rs794728244
NM_000138.5(FBN1):c.6164-3_6164-1del rs2043085905
NM_000138.5(FBN1):c.6164-922del
NM_000138.5(FBN1):c.6164-9A>T
NM_000138.5(FBN1):c.6167T>C (p.Leu2056Ser)
NM_000138.5(FBN1):c.6168G>A (p.Leu2056=) rs2505438937
NM_000138.5(FBN1):c.6169C>T (p.Arg2057Ter) rs763091520
NM_000138.5(FBN1):c.616A>T (p.Lys206Ter) rs2044026093
NM_000138.5(FBN1):c.6170G>T (p.Arg2057Leu) rs181032147
NM_000138.5(FBN1):c.6173T>C (p.Met2058Thr) rs2505438907
NM_000138.5(FBN1):c.6180C>A (p.Tyr2060Ter) rs974604498
NM_000138.5(FBN1):c.6180C>G (p.Tyr2060Ter) rs974604498
NM_000138.5(FBN1):c.6181T>A (p.Cys2061Ser) rs1555395267
NM_000138.5(FBN1):c.6181T>C (p.Cys2061Arg) rs1555395267
NM_000138.5(FBN1):c.6181del (p.Cys2061fs)
NM_000138.5(FBN1):c.6182G>A (p.Cys2061Tyr)
NM_000138.5(FBN1):c.6183T>A (p.Cys2061Ter) rs71467648
NM_000138.5(FBN1):c.6184T>G (p.Tyr2062Asp)
NM_000138.5(FBN1):c.6185A>C (p.Tyr2062Ser) rs1555395266
NM_000138.5(FBN1):c.6185A>G (p.Tyr2062Cys) rs1555395266
NM_000138.5(FBN1):c.6185A>T (p.Tyr2062Phe) rs1555395266
NM_000138.5(FBN1):c.6185dup (p.Tyr2062Ter)
NM_000138.5(FBN1):c.6188C>T (p.Ala2063Val) rs1566896395
NM_000138.5(FBN1):c.6199G>T (p.Gly2067Ter) rs1342803259
NM_000138.5(FBN1):c.619dup (p.Thr207fs) rs1555401689
NM_000138.5(FBN1):c.6207G>A (p.Lys2069=) rs1021415072
NM_000138.5(FBN1):c.6208T>C (p.Cys2070Arg) rs2505438794
NM_000138.5(FBN1):c.6209G>A (p.Cys2070Tyr) rs1060501044
NM_000138.5(FBN1):c.6209G>T (p.Cys2070Phe) rs1060501044
NM_000138.5(FBN1):c.6215C>A (p.Ser2072Ter) rs2043085394
NM_000138.5(FBN1):c.6217C>T (p.Pro2073Ser)
NM_000138.5(FBN1):c.6219C>T (p.Pro2073=) rs771786623
NM_000138.5(FBN1):c.621G>A (p.Thr207=) rs765173237
NM_000138.5(FBN1):c.621G>T (p.Thr207=) rs765173237
NM_000138.5(FBN1):c.621del (p.Leu208fs) rs2141358303
NM_000138.5(FBN1):c.6227G>A (p.Arg2076Lys)
NM_000138.5(FBN1):c.6235T>C (p.Ser2079Pro) rs2505438734
NM_000138.5(FBN1):c.6236C>G (p.Ser2079Cys) rs1555395263
NM_000138.5(FBN1):c.623T>A (p.Leu208His) rs2044025908
NM_000138.5(FBN1):c.6243G>A (p.Gln2081=) rs1281986315
NM_000138.5(FBN1):c.6244G>T (p.Glu2082Ter) rs1052480459
NM_000138.5(FBN1):c.6248G>A (p.Cys2083Tyr)
NM_000138.5(FBN1):c.6249_6254del (p.Cys2084_Cys2085del) rs2141241487
NM_000138.5(FBN1):c.6250T>A (p.Cys2084Ser) rs2141241499
NM_000138.5(FBN1):c.6250_6253dup (p.Cys2085fs) rs2505438636
NM_000138.5(FBN1):c.6251G>A (p.Cys2084Tyr) rs794728245
NM_000138.5(FBN1):c.6253T>G (p.Cys2085Gly) rs2141241496
NM_000138.5(FBN1):c.6254G>A (p.Cys2085Tyr) rs1555395261
NM_000138.5(FBN1):c.6254G>C (p.Cys2085Ser) rs1555395261
NM_000138.5(FBN1):c.6262A>T (p.Lys2088Ter)
NM_000138.5(FBN1):c.6264G>C (p.Lys2088Asn) rs886051247
NM_000138.5(FBN1):c.6266del (p.Gly2089fs) rs1597526729
NM_000138.5(FBN1):c.626G>C (p.Cys209Ser) rs1555401687
NM_000138.5(FBN1):c.626G>T (p.Cys209Phe) rs1555401687
NM_000138.5(FBN1):c.6272G>A (p.Gly2091Asp) rs878853687
NM_000138.5(FBN1):c.6274T>C (p.Trp2092Arg) rs794728246
NM_000138.5(FBN1):c.6275G>A (p.Trp2092Ter)
NM_000138.5(FBN1):c.6276G>A (p.Trp2092Ter) rs1555395260
NM_000138.5(FBN1):c.6277G>A (p.Gly2093Arg) rs1064793117
NM_000138.5(FBN1):c.6277G>C (p.Gly2093Arg) rs1064793117
NM_000138.5(FBN1):c.6282C>A (p.Asp2094Glu) rs1397936107
NM_000138.5(FBN1):c.6285del (p.Cys2096fs) rs2141241437
NM_000138.5(FBN1):c.6285dup (p.Cys2096fs) rs2141241437
NM_000138.5(FBN1):c.6289G>T (p.Glu2097Ter) rs397515831
NM_000138.5(FBN1):c.6291G>C (p.Glu2097Asp)
NM_000138.5(FBN1):c.6296G>A (p.Cys2099Tyr) rs1131691803
NM_000138.5(FBN1):c.6297C>G (p.Cys2099Trp) rs2505438487
NM_000138.5(FBN1):c.6299C>G (p.Pro2100Arg)
NM_000138.5(FBN1):c.629G>A (p.Cys210Tyr) rs1085307468
NM_000138.5(FBN1):c.6303G>A (p.Thr2101=) rs2043084739
NM_000138.5(FBN1):c.6308C>T (p.Pro2103Leu) rs2505438438
NM_000138.5(FBN1):c.6309dup (p.Asp2104Ter) rs2141241409
NM_000138.5(FBN1):c.6311A>G (p.Asp2104Gly)
NM_000138.5(FBN1):c.6313+18A>G
NM_000138.5(FBN1):c.6313+1G>A rs2141241397
NM_000138.5(FBN1):c.6313+20T>C rs2505438334
NM_000138.5(FBN1):c.6313+2T>C rs1555395257
NM_000138.5(FBN1):c.6313+3A>G rs1555395256
NM_000138.5(FBN1):c.6313+5G>A rs878853688
NM_000138.5(FBN1):c.6313+5G>C rs878853688
NM_000138.5(FBN1):c.6313G>A (p.Glu2105Lys) rs794728247
NM_000138.5(FBN1):c.6313G>T (p.Glu2105Ter) rs794728247
NM_000138.5(FBN1):c.6313_6313+1delinsAC rs2505438414
NM_000138.5(FBN1):c.6314-14T>A rs2505437102
NM_000138.5(FBN1):c.6314-14T>G rs2505437102
NM_000138.5(FBN1):c.6314-2A>C rs2141240964
NM_000138.5(FBN1):c.6314-3del rs2141240967
NM_000138.5(FBN1):c.6314-6C>G rs2141240971
NM_000138.5(FBN1):c.6314-6C>T rs2141240971
NM_000138.5(FBN1):c.6314-7_6322del rs2141240946
NM_000138.5(FBN1):c.6314A>T (p.Glu2105Val) rs1165109120
NM_000138.5(FBN1):c.6317C>T (p.Ala2106Val) rs1437239300
NM_000138.5(FBN1):c.6320T>C (p.Phe2107Ser) rs1555395230
NM_000138.5(FBN1):c.6320T>G (p.Phe2107Cys) rs1555395230
NM_000138.5(FBN1):c.6320dup (p.Arg2108fs) rs2043081795
NM_000138.5(FBN1):c.6322C>T (p.Arg2108Cys) rs1246984265
NM_000138.5(FBN1):c.6322del (p.Arg2108fs) rs2141240943
NM_000138.5(FBN1):c.6325C>T (p.Gln2109Ter) rs1555395229
NM_000138.5(FBN1):c.6327del (p.Ile2110fs) rs1555395228
NM_000138.5(FBN1):c.6331T>C (p.Cys2111Arg) rs363815
NM_000138.5(FBN1):c.6331T>G (p.Cys2111Gly) rs363815
NM_000138.5(FBN1):c.6332G>A (p.Cys2111Tyr) rs1131691467
NM_000138.5(FBN1):c.6332G>T (p.Cys2111Phe)
NM_000138.5(FBN1):c.6336T>G (p.Pro2112=) rs772876451
NM_000138.5(FBN1):c.6337T>C (p.Tyr2113His) rs2505436966
NM_000138.5(FBN1):c.6338A>G (p.Tyr2113Cys)
NM_000138.5(FBN1):c.6338dup (p.Tyr2113Ter) rs2141240902
NM_000138.5(FBN1):c.6339T>G (p.Tyr2113Ter) rs267606797
NM_000138.5(FBN1):c.6340G>T (p.Gly2114Ter) rs2505436934
NM_000138.5(FBN1):c.6340_6341delinsCT (p.Gly2114Leu)
NM_000138.5(FBN1):c.6346G>A (p.Gly2116Arg)
NM_000138.5(FBN1):c.6347G>C (p.Gly2116Ala) rs1555395226
NM_000138.5(FBN1):c.6348G>A (p.Gly2116=) rs2505436906
NM_000138.5(FBN1):c.6348G>T (p.Gly2116=)
NM_000138.5(FBN1):c.634A>C (p.Thr212Pro) rs1597593736
NM_000138.5(FBN1):c.6350T>A (p.Ile2117Asn) rs769196373
NM_000138.5(FBN1):c.6354C>G (p.Ile2118Met) rs112989722
NM_000138.5(FBN1):c.6355G>A (p.Val2119Met) rs876660976
NM_000138.5(FBN1):c.6355G>C (p.Val2119Leu)
NM_000138.5(FBN1):c.6357G>C (p.Val2119=) rs886051246
NM_000138.5(FBN1):c.6359G>T (p.Gly2120Val) rs1310047239
NM_000138.5(FBN1):c.635_636del (p.Thr212fs) rs1566922422
NM_000138.5(FBN1):c.6362C>A (p.Pro2121His) rs2505436857
NM_000138.5(FBN1):c.6365A>G (p.Asp2122Gly) rs2505436853
NM_000138.5(FBN1):c.636A>C (p.Thr212=) rs2505661403
NM_000138.5(FBN1):c.6371C>G (p.Ser2124Ter) rs1190410675
NM_000138.5(FBN1):c.6373_6379+1dup rs2505436797
NM_000138.5(FBN1):c.6375A>C (p.Ala2125=) rs2141240830
NM_000138.5(FBN1):c.6375A>G (p.Ala2125=) rs2141240830
NM_000138.5(FBN1):c.6379+11T>A rs370322263
NM_000138.5(FBN1):c.6379+12G>C
NM_000138.5(FBN1):c.6379+16T>G rs2505436744
NM_000138.5(FBN1):c.6379+17G>T rs1432052846
NM_000138.5(FBN1):c.6379+1G>A rs397515833
NM_000138.5(FBN1):c.6379+1G>T
NM_000138.5(FBN1):c.6379+2T>C rs113453570
NM_000138.5(FBN1):c.6379+2T>G rs113453570
NM_000138.5(FBN1):c.6379+3C>G rs2043081154
NM_000138.5(FBN1):c.6379+5G>A rs1085307875
NM_000138.5(FBN1):c.6379+9C>T rs1555395223
NM_000138.5(FBN1):c.6379G>A (p.Asp2127Asn) rs1555395225
NM_000138.5(FBN1):c.6379G>C (p.Asp2127His) rs1555395225
NM_000138.5(FBN1):c.6380-13del rs768078387
NM_000138.5(FBN1):c.6380-1G>T rs1597526073
NM_000138.5(FBN1):c.6380-20T>A
NM_000138.5(FBN1):c.6380-20dup rs768078387
NM_000138.5(FBN1):c.6380-2A>C rs886041482
NM_000138.5(FBN1):c.6380-2A>G rs886041482
NM_000138.5(FBN1):c.6380-7_6380-4del
NM_000138.5(FBN1):c.6380-83del rs193922222
NM_000138.5(FBN1):c.6380A>C (p.Asp2127Ala) rs2141240523
NM_000138.5(FBN1):c.6380A>G (p.Asp2127Gly) rs2141240523
NM_000138.5(FBN1):c.6380A>T (p.Asp2127Val) rs2141240523
NM_000138.5(FBN1):c.6383T>C (p.Met2128Thr) rs2141240519
NM_000138.5(FBN1):c.6385G>T (p.Asp2129Tyr) rs193922223
NM_000138.5(FBN1):c.6386A>G (p.Asp2129Gly) rs1566896114
NM_000138.5(FBN1):c.6386A>T (p.Asp2129Val) rs1566896114
NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys) rs794728334
NM_000138.5(FBN1):c.6388G>T (p.Glu2130Ter) rs794728334
NM_000138.5(FBN1):c.6389A>C (p.Glu2130Ala) rs2505436041
NM_000138.5(FBN1):c.6389A>T (p.Glu2130Val)
NM_000138.5(FBN1):c.6391T>A (p.Cys2131Ser) rs1555395210
NM_000138.5(FBN1):c.6391T>C (p.Cys2131Arg) rs1555395210
NM_000138.5(FBN1):c.6392del (p.Cys2131fs) rs2141240489
NM_000138.5(FBN1):c.6393C>G (p.Cys2131Trp) rs61730051
NM_000138.5(FBN1):c.6394A>G (p.Lys2132Glu) rs2505436012
NM_000138.5(FBN1):c.6397_6399del (p.Glu2133del) rs1060501037
NM_000138.5(FBN1):c.6401C>T (p.Pro2134Leu) rs1566896102
NM_000138.5(FBN1):c.6403G>C (p.Asp2135His) rs746167150
NM_000138.5(FBN1):c.6404A>T (p.Asp2135Val) rs2505435996
NM_000138.5(FBN1):c.6407T>A (p.Val2136Asp)
NM_000138.5(FBN1):c.6409T>G (p.Cys2137Gly) rs2141240456
NM_000138.5(FBN1):c.640G>A (p.Gly214Ser) rs794728162
NM_000138.5(FBN1):c.640G>T (p.Gly214Cys)
NM_000138.5(FBN1):c.6410G>A (p.Cys2137Tyr) rs1555395206
NM_000138.5(FBN1):c.6412_6441del (p.Lys2138_Gly2147del) rs1566896070
NM_000138.5(FBN1):c.6414del (p.Lys2138fs) rs1555395205
NM_000138.5(FBN1):c.6416del (p.His2139fs) rs2505435954
NM_000138.5(FBN1):c.6418G>A (p.Gly2140Arg) rs794728249
NM_000138.5(FBN1):c.6419G>A (p.Gly2140Glu) rs1064793118
NM_000138.5(FBN1):c.6422A>T (p.Gln2141Leu) rs2505435926
NM_000138.5(FBN1):c.6423_6427del (p.Gln2141fs)
NM_000138.5(FBN1):c.6423del (p.Gln2141fs) rs2141240428
NM_000138.5(FBN1):c.6424T>A (p.Cys2142Ser) rs1555395203
NM_000138.5(FBN1):c.6424T>C (p.Cys2142Arg) rs1555395203
NM_000138.5(FBN1):c.6424T>G (p.Cys2142Gly) rs1555395203
NM_000138.5(FBN1):c.6425G>A (p.Cys2142Tyr) rs794728335
NM_000138.5(FBN1):c.6427A>T (p.Ile2143Phe)
NM_000138.5(FBN1):c.6430A>C (p.Asn2144His) rs886038943
NM_000138.5(FBN1):c.6431A>G (p.Asn2144Ser) rs137854461
NM_000138.5(FBN1):c.6434C>T (p.Thr2145Ile) rs2043078019
NM_000138.5(FBN1):c.643C>T (p.Arg215Ter) rs111687884
NM_000138.5(FBN1):c.6440G>A (p.Gly2147Asp) rs1597525958
NM_000138.5(FBN1):c.6440dup (p.Ser2148fs) rs2141240388
NM_000138.5(FBN1):c.6442T>C (p.Ser2148Pro) rs2505435830
NM_000138.5(FBN1):c.6446A>G (p.Tyr2149Cys) rs113080385
NM_000138.5(FBN1):c.6446A>T (p.Tyr2149Phe) rs113080385
NM_000138.5(FBN1):c.6449G>A (p.Arg2150His) rs794728250
NM_000138.5(FBN1):c.6449G>T (p.Arg2150Leu) rs794728250
NM_000138.5(FBN1):c.6451T>C (p.Cys2151Arg) rs2505435789
NM_000138.5(FBN1):c.6452G>A (p.Cys2151Tyr) rs112464743
NM_000138.5(FBN1):c.6453C>T (p.Cys2151=) rs794728251
NM_000138.5(FBN1):c.645A>T (p.Arg215=) rs200062771
NM_000138.5(FBN1):c.6460C>T (p.Pro2154Ser) rs2043077718
NM_000138.5(FBN1):c.6461C>T (p.Pro2154Leu) rs756219617
NM_000138.5(FBN1):c.6462C>G (p.Pro2154=) rs1031530636
NM_000138.5(FBN1):c.6471T>A (p.Tyr2157Ter) rs1060501034
NM_000138.5(FBN1):c.6472A>G (p.Ile2158Val)
NM_000138.5(FBN1):c.6473T>G (p.Ile2158Ser) rs751560904
NM_000138.5(FBN1):c.6483_6496+1del rs2141240279
NM_000138.5(FBN1):c.6487G>T (p.Glu2163Ter) rs1555395191
NM_000138.5(FBN1):c.6490T>C (p.Cys2164Arg)
NM_000138.5(FBN1):c.6490T>G (p.Cys2164Gly) rs2141240296
NM_000138.5(FBN1):c.6491G>A (p.Cys2164Tyr) rs1555395189
NM_000138.5(FBN1):c.6496+12G>A rs899879407
NM_000138.5(FBN1):c.6496+1G>A rs1555395188
NM_000138.5(FBN1):c.6496+1G>T rs1555395188
NM_000138.5(FBN1):c.6496+1del rs1597525871
NM_000138.5(FBN1):c.6496+2T>G rs1555395187
NM_000138.5(FBN1):c.6496+5G>C rs1555395186
NM_000138.5(FBN1):c.6496G>A (p.Asp2166Asn) rs794728252
NM_000138.5(FBN1):c.6497-13T>C rs2505429756
NM_000138.5(FBN1):c.6497-14_6497-12del rs2505429753
NM_000138.5(FBN1):c.6497-16_6497-15delinsCA rs2505429771
NM_000138.5(FBN1):c.6497-19C>T rs2505429783
NM_000138.5(FBN1):c.6497-1G>A rs2505429718
NM_000138.5(FBN1):c.6497-3C>G rs2141237196
NM_000138.5(FBN1):c.6497-4G>A rs763670537
NM_000138.5(FBN1):c.6497-9T>A rs2505429735
NM_000138.5(FBN1):c.6497A>G (p.Asp2166Gly) rs2505429711
NM_000138.5(FBN1):c.649T>G (p.Trp217Gly) rs193922224
NM_000138.5(FBN1):c.6500_6501insCTGGTTTCT (p.Thr2167_Asp2168insTrpPheLeu) rs2505429693
NM_000138.5(FBN1):c.6501T>C (p.Thr2167=) rs2141237184
NM_000138.5(FBN1):c.6503A>G (p.Asp2168Gly) rs1555395015
NM_000138.5(FBN1):c.6505G>A (p.Glu2169Lys) rs1013747861
NM_000138.5(FBN1):c.6505G>T (p.Glu2169Ter) rs1013747861
NM_000138.5(FBN1):c.6508T>C (p.Cys2170Arg) rs1597523873
NM_000138.5(FBN1):c.6509G>A (p.Cys2170Tyr) rs363821
NM_000138.5(FBN1):c.6512C>T (p.Ser2171Phe) rs1413266501
NM_000138.5(FBN1):c.6514G>T (p.Val2172Phe) rs1243025749
NM_000138.5(FBN1):c.6515T>C (p.Val2172Ala) rs2505429631
NM_000138.5(FBN1):c.651G>A (p.Trp217Ter) rs2505661366
NM_000138.5(FBN1):c.6523C>A (p.Pro2175Thr) rs2043051465
NM_000138.5(FBN1):c.6524C>T (p.Pro2175Leu) rs2141237135
NM_000138.5(FBN1):c.6524del (p.Pro2175fs) rs1555395013
NM_000138.5(FBN1):c.6527G>A (p.Cys2176Tyr) rs2505429599
NM_000138.5(FBN1):c.6528T>A (p.Cys2176Ter) rs2141237128
NM_000138.5(FBN1):c.6528T>G (p.Cys2176Trp) rs2141237128
NM_000138.5(FBN1):c.6530G>A (p.Gly2177Glu)
NM_000138.5(FBN1):c.6532_6540del (p.Asn2178_Thr2180del)
NM_000138.5(FBN1):c.6533A>G (p.Asn2178Ser) rs2141237126
NM_000138.5(FBN1):c.6539C>A (p.Thr2180Asn)
NM_000138.5(FBN1):c.653del (p.Gly218fs) rs2505661362
NM_000138.5(FBN1):c.653dup (p.His219fs) rs2505661362
NM_000138.5(FBN1):c.6541T>C (p.Cys2181Arg) rs1131691373
NM_000138.5(FBN1):c.6541del (p.Cys2181fs) rs1060501059
NM_000138.5(FBN1):c.6549T>A (p.Asn2183Lys) rs752192006
NM_000138.5(FBN1):c.6549T>G (p.Asn2183Lys) rs752192006
NM_000138.5(FBN1):c.654C>T (p.Gly218=) rs375181377
NM_000138.5(FBN1):c.6550_6553del (p.Val2184fs) rs2141237105
NM_000138.5(FBN1):c.6553_6556dup (p.Gly2186fs) rs193922225
NM_000138.5(FBN1):c.6554T>C (p.Ile2185Thr) rs910656654
NM_000138.5(FBN1):c.6554T>G (p.Ile2185Ser) rs910656654
NM_000138.5(FBN1):c.6558A>G (p.Gly2186=)
NM_000138.5(FBN1):c.6559G>A (p.Gly2187Ser) rs760055383
NM_000138.5(FBN1):c.6563T>G (p.Phe2188Cys) rs2505429471
NM_000138.5(FBN1):c.6564_6565insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCGATTGGAGGTTTT (p.Glu2189delinsPhePhePhePhePhePheXaaXaaXaaXaaValSerProPheTer)
NM_000138.5(FBN1):c.6568T>A (p.Cys2190Ser) rs1566895263
NM_000138.5(FBN1):c.6568T>C (p.Cys2190Arg) rs1566895263
NM_000138.5(FBN1):c.6568T>G (p.Cys2190Gly) rs1566895263
NM_000138.5(FBN1):c.6569G>A (p.Cys2190Tyr) rs1566895262
NM_000138.5(FBN1):c.6569G>T (p.Cys2190Phe) rs1566895262
NM_000138.5(FBN1):c.6575G>A (p.Cys2192Tyr) rs2043050838
NM_000138.5(FBN1):c.6576C>A (p.Cys2192Ter) rs369058466
NM_000138.5(FBN1):c.6576C>G (p.Cys2192Trp) rs369058466
NM_000138.5(FBN1):c.6579G>A (p.Glu2193=)
NM_000138.5(FBN1):c.657C>A (p.His219Gln) rs774754863
NM_000138.5(FBN1):c.657C>G (p.His219Gln) rs774754863
NM_000138.5(FBN1):c.6582G>A (p.Glu2194=) rs2043050683
NM_000138.5(FBN1):c.6583G>A (p.Gly2195Arg) rs886038976
NM_000138.5(FBN1):c.6583G>T (p.Gly2195Ter) rs886038976
NM_000138.5(FBN1):c.6584G>T (p.Gly2195Val) rs1597523768
NM_000138.5(FBN1):c.6586T>G (p.Phe2196Val) rs2043050574
NM_000138.5(FBN1):c.658C>T (p.Pro220Ser) rs771509487
NM_000138.5(FBN1):c.6590A>C (p.Glu2197Ala) rs763165301
NM_000138.5(FBN1):c.6591G>A (p.Glu2197=) rs2141237031
NM_000138.5(FBN1):c.6591G>T (p.Glu2197Asp) rs2141237031
NM_000138.5(FBN1):c.6600A>G (p.Pro2200=) rs1363087788
NM_000138.5(FBN1):c.6601A>C (p.Met2201Leu) rs776823384
NM_000138.5(FBN1):c.6603G>A (p.Met2201Ile) rs1298438310
NM_000138.5(FBN1):c.6605T>A (p.Met2202Lys) rs2043050244
NM_000138.5(FBN1):c.6605T>C (p.Met2202Thr) rs2043050244
NM_000138.5(FBN1):c.6609_6610del (p.Thr2203_Cys2204insTer) rs1555395002
NM_000138.5(FBN1):c.660C>A (p.Pro220=) rs920409035
NM_000138.5(FBN1):c.660_661del (p.Pro220_Cys221insTer) rs1555401679
NM_000138.5(FBN1):c.660del (p.Cys221fs) rs727505269
NM_000138.5(FBN1):c.660dup (p.Cys221fs) rs727505269
NM_000138.5(FBN1):c.6610T>C (p.Cys2204Arg) rs1555395001
NM_000138.5(FBN1):c.6611G>C (p.Cys2204Ser) rs886039158
NM_000138.5(FBN1):c.6611G>T (p.Cys2204Phe) rs886039158
NM_000138.5(FBN1):c.6613dup (p.Glu2205fs) rs1566895225
NM_000138.5(FBN1):c.6615A>G (p.Glu2205=) rs2505429240
NM_000138.5(FBN1):c.6616+17G>C rs363822
NM_000138.5(FBN1):c.6616+1G>A rs1064793980
NM_000138.5(FBN1):c.6616+1G>C rs1064793980
NM_000138.5(FBN1):c.6616+1G>T rs1064793980
NM_000138.5(FBN1):c.6616+2T>A
NM_000138.5(FBN1):c.6616+2T>C rs2141236949
NM_000138.5(FBN1):c.6616+4C>T rs2505429210
NM_000138.5(FBN1):c.6616+7C>G rs778659143
NM_000138.5(FBN1):c.6616G>A (p.Asp2206Asn) rs1555394999
NM_000138.5(FBN1):c.6617-11_6617-9del rs2141235287
NM_000138.5(FBN1):c.6617-12_6630del rs2505425291
NM_000138.5(FBN1):c.6617-147G>A
NM_000138.5(FBN1):c.6617-17A>T rs770762570
NM_000138.5(FBN1):c.6617-1G>C rs2141235271
NM_000138.5(FBN1):c.6617-1G>T rs2141235271
NM_000138.5(FBN1):c.6617-2A>C rs1597522588
NM_000138.5(FBN1):c.6617-2A>G rs1597522588
NM_000138.5(FBN1):c.6617-7G>C rs2043036160
NM_000138.5(FBN1):c.6617-8T>A
NM_000138.5(FBN1):c.6617-9_6617-8inv
NM_000138.5(FBN1):c.6617A>G (p.Asp2206Gly) rs1597522584
NM_000138.5(FBN1):c.6617A>T (p.Asp2206Val) rs1597522584
NM_000138.5(FBN1):c.661del (p.Cys221fs) rs1597593695
NM_000138.5(FBN1):c.6623A>C (p.Asn2208Thr)
NM_000138.5(FBN1):c.6623_6627del (p.Asn2208fs) rs1597522572
NM_000138.5(FBN1):c.6623dup (p.Asn2208fs) rs2505425338
NM_000138.5(FBN1):c.6625del (p.Glu2209fs) rs2141235258
NM_000138.5(FBN1):c.6626A>C (p.Glu2209Ala) rs1060501072
NM_000138.5(FBN1):c.6628T>A (p.Cys2210Ser) rs794728253
NM_000138.5(FBN1):c.6629G>A (p.Cys2210Tyr) rs2141235242
NM_000138.5(FBN1):c.6629_6639dup (p.Pro2214fs) rs2505425229
NM_000138.5(FBN1):c.6630T>G (p.Cys2210Trp) rs397515836
NM_000138.5(FBN1):c.6631G>T (p.Ala2211Ser) rs1407213479
NM_000138.5(FBN1):c.6634C>T (p.Gln2212Ter) rs1597522553
NM_000138.5(FBN1):c.6635A>G (p.Gln2212Arg)
NM_000138.5(FBN1):c.6636G>A (p.Gln2212=) rs2141235218
NM_000138.5(FBN1):c.663_664del (p.Cys221_Glu222delinsTer) rs2044025276
NM_000138.5(FBN1):c.6640C>G (p.Pro2214Ala) rs1375370990
NM_000138.5(FBN1):c.6643C>T (p.Leu2215=) rs921997271
NM_000138.5(FBN1):c.6645del (p.Leu2216fs) rs1555394928
NM_000138.5(FBN1):c.6648C>A (p.Leu2216=) rs755861623
NM_000138.5(FBN1):c.6648C>G (p.Leu2216=) rs755861623
NM_000138.5(FBN1):c.6650G>A (p.Cys2217Tyr) rs794728254
NM_000138.5(FBN1):c.6650G>C (p.Cys2217Ser) rs794728254
NM_000138.5(FBN1):c.6655T>G (p.Phe2219Val) rs2043035646
NM_000138.5(FBN1):c.6656dup (p.Arg2220fs) rs1555394925
NM_000138.5(FBN1):c.6658C>T (p.Arg2220Ter) rs113001196
NM_000138.5(FBN1):c.6659G>C (p.Arg2220Pro) rs780651466
NM_000138.5(FBN1):c.6659G>T (p.Arg2220Leu) rs780651466
NM_000138.5(FBN1):c.6661T>C (p.Cys2221Arg) rs113543334
NM_000138.5(FBN1):c.6661T>G (p.Cys2221Gly) rs113543334
NM_000138.5(FBN1):c.6662G>A (p.Cys2221Tyr) rs137854460
NM_000138.5(FBN1):c.6662G>C (p.Cys2221Ser) rs137854460
NM_000138.5(FBN1):c.6663T>G (p.Cys2221Trp) rs2141235147
NM_000138.5(FBN1):c.6664G>C (p.Val2222Leu) rs1555394920
NM_000138.5(FBN1):c.6667A>C (p.Asn2223His) rs1555394919
NM_000138.5(FBN1):c.6669C>A (p.Asn2223Lys)
NM_000138.5(FBN1):c.6670_6671del (p.Thr2224fs) rs1597522485
NM_000138.5(FBN1):c.6670dup (p.Thr2224fs) rs2505425081
NM_000138.5(FBN1):c.6673del (p.Tyr2225fs) rs2141235124
NM_000138.5(FBN1):c.6675T>G (p.Tyr2225Ter) rs1260533788
NM_000138.5(FBN1):c.6676G>A (p.Gly2226Arg) rs2141235108
NM_000138.5(FBN1):c.6677G>A (p.Gly2226Glu) rs2505425017
NM_000138.5(FBN1):c.6677G>T (p.Gly2226Val) rs2505425017
NM_000138.5(FBN1):c.6678_6680del (p.Ser2227del) rs1555394913
NM_000138.5(FBN1):c.6678del (p.Ser2227fs) rs2141235101
NM_000138.5(FBN1):c.6679T>C (p.Ser2227Pro) rs1555394915
NM_000138.5(FBN1):c.6680C>T (p.Ser2227Leu) rs2505425000
NM_000138.5(FBN1):c.6681A>G (p.Ser2227=) rs363824
NM_000138.5(FBN1):c.6681A>T (p.Ser2227=) rs363824
NM_000138.5(FBN1):c.6683A>G (p.Tyr2228Cys) rs1555394908
NM_000138.5(FBN1):c.6683_6684del (p.Ser2227_Tyr2228insTer)
NM_000138.5(FBN1):c.6684T>G (p.Tyr2228Ter)
NM_000138.5(FBN1):c.6687A>G (p.Glu2229=) rs1380714606
NM_000138.5(FBN1):c.6688T>A (p.Cys2230Ser)
NM_000138.5(FBN1):c.6688T>C (p.Cys2230Arg) rs1555394906
NM_000138.5(FBN1):c.6689G>A (p.Cys2230Tyr) rs1555394904
NM_000138.5(FBN1):c.6693del (p.Lys2231fs) rs1555394901
NM_000138.5(FBN1):c.6694T>A (p.Cys2232Ser) rs869025411
NM_000138.5(FBN1):c.6694T>C (p.Cys2232Arg) rs869025411
NM_000138.5(FBN1):c.6694T>G (p.Cys2232Gly) rs869025411
NM_000138.5(FBN1):c.6695G>A (p.Cys2232Tyr) rs1060501054
NM_000138.5(FBN1):c.6695G>C (p.Cys2232Ser) rs1060501054
NM_000138.5(FBN1):c.6697C>T (p.Pro2233Ser) rs794728255
NM_000138.5(FBN1):c.6698C>A (p.Pro2233His) rs1566894783
NM_000138.5(FBN1):c.6698C>T (p.Pro2233Leu) rs1566894783
NM_000138.5(FBN1):c.6699del (p.Val2234fs) rs1597522415
NM_000138.5(FBN1):c.669G>A (p.Met223Ile) rs910928261
NM_000138.5(FBN1):c.6700G>T (p.Val2234Leu)
NM_000138.5(FBN1):c.6701dup (p.Tyr2236fs) rs1597522390
NM_000138.5(FBN1):c.6704G>A (p.Gly2235Glu) rs2505424862
NM_000138.5(FBN1):c.6704G>T (p.Gly2235Val)
NM_000138.5(FBN1):c.6704del (p.Gly2235fs) rs193922226
NM_000138.5(FBN1):c.6705A>G (p.Gly2235=) rs2229326
NM_000138.5(FBN1):c.6705del (p.Tyr2236fs) rs1555394900
NM_000138.5(FBN1):c.6707A>G (p.Tyr2236Cys) rs368439899
NM_000138.5(FBN1):c.6708T>C (p.Tyr2236=) rs2043034940
NM_000138.5(FBN1):c.670T>C (p.Cys224Arg) rs1555401676
NM_000138.5(FBN1):c.670del (p.Cys224fs) rs2505661297
NM_000138.5(FBN1):c.6711G>A (p.Val2237=) rs760867972
NM_000138.5(FBN1):c.6711G>T (p.Val2237=) rs760867972
NM_000138.5(FBN1):c.6718G>T (p.Glu2240Ter) rs2505424789
NM_000138.5(FBN1):c.6718_6719del (p.Glu2240fs) rs2043034865
NM_000138.5(FBN1):c.671G>A (p.Cys224Tyr) rs1566922396
NM_000138.5(FBN1):c.671G>T (p.Cys224Phe) rs1566922396
NM_000138.5(FBN1):c.6721G>C (p.Asp2241His) rs775411623
NM_000138.5(FBN1):c.6723C>T (p.Asp2241=) rs770939266
NM_000138.5(FBN1):c.6728_6737del (p.Arg2243fs) rs2141234945
NM_000138.5(FBN1):c.6730A>G (p.Met2244Val)
NM_000138.5(FBN1):c.6730A>T (p.Met2244Leu) rs2505424715
NM_000138.5(FBN1):c.6732G>C (p.Met2244Ile) rs780960909
NM_000138.5(FBN1):c.6734G>A (p.Cys2245Tyr) rs2043034575
NM_000138.5(FBN1):c.6735C>A (p.Cys2245Ter) rs2043034543
NM_000138.5(FBN1):c.6739+11G>A rs757918461
NM_000138.5(FBN1):c.6739+13G>A rs779463696
NM_000138.5(FBN1):c.6739+17A>G
NM_000138.5(FBN1):c.6739+1G>A rs869025419
NM_000138.5(FBN1):c.6739+1G>C rs869025419
NM_000138.5(FBN1):c.6739+1G>T rs869025419
NM_000138.5(FBN1):c.6739+2T>A rs730880107
NM_000138.5(FBN1):c.6739+2T>C rs730880107
NM_000138.5(FBN1):c.673C>G (p.Pro225Ala) rs2044025163
NM_000138.5(FBN1):c.673C>T (p.Pro225Ser) rs2044025163
NM_000138.5(FBN1):c.6740-10T>A rs1456822662
NM_000138.5(FBN1):c.6740-10T>G rs1456822662
NM_000138.5(FBN1):c.6740-11A>T rs768460619
NM_000138.5(FBN1):c.6740-13A>C rs2505420372
NM_000138.5(FBN1):c.6740-17T>C rs1846661556
NM_000138.5(FBN1):c.6740-19G>C rs2043018519
NM_000138.5(FBN1):c.6740-1G>C rs1555394781
NM_000138.5(FBN1):c.6740-1G>T rs1555394781
NM_000138.5(FBN1):c.6740-21_6740-18delinsTTTTGTCATTTTTTGTACATTTTTGTCATTTT rs2505420395
NM_000138.5(FBN1):c.6740-2A>G rs2141232714
NM_000138.5(FBN1):c.6740-2del rs1555394783
NM_000138.5(FBN1):c.6740-3C>G rs1566894334
NM_000138.5(FBN1):c.6740A>G (p.Asp2247Gly) rs1060501032
NM_000138.5(FBN1):c.6741del (p.Asp2247fs)
NM_000138.5(FBN1):c.6744_6746del (p.Glu2248del) rs1566894318
NM_000138.5(FBN1):c.6745G>A (p.Asp2249Asn) rs746666535
NM_000138.5(FBN1):c.6746A>G (p.Asp2249Gly) rs397515838
NM_000138.5(FBN1):c.6748G>A (p.Glu2250Lys) rs1597520789
NM_000138.5(FBN1):c.6749A>T (p.Glu2250Val) rs2043018196
NM_000138.5(FBN1):c.6750G>A (p.Glu2250=) rs887646369
NM_000138.5(FBN1):c.6751T>A (p.Cys2251Ser) rs112836174
NM_000138.5(FBN1):c.6751T>C (p.Cys2251Arg) rs112836174
NM_000138.5(FBN1):c.6751del (p.Cys2251fs) rs1597520781
NM_000138.5(FBN1):c.6752G>A (p.Cys2251Tyr) rs794728256
NM_000138.5(FBN1):c.6752G>T (p.Cys2251Phe) rs794728256
NM_000138.5(FBN1):c.6753T>G (p.Cys2251Trp) rs2505420278
NM_000138.5(FBN1):c.6757G>A (p.Glu2253Lys) rs1245476075
NM_000138.5(FBN1):c.6761del (p.Gly2254fs) rs1555394780
NM_000138.5(FBN1):c.6769G>A (p.Asp2257Asn) rs2505420225
NM_000138.5(FBN1):c.6769_6770dup (p.Asp2257fs) rs2141232648
NM_000138.5(FBN1):c.6769_6773del (p.Asp2257fs) rs2141232639
NM_000138.5(FBN1):c.6770_6771dup (p.Cys2258fs) rs1555394779
NM_000138.5(FBN1):c.6772T>C (p.Cys2258Arg) rs1057520617
NM_000138.5(FBN1):c.6773G>C (p.Cys2258Ser) rs886039047
NM_000138.5(FBN1):c.6773_6774del (p.Cys2258fs) rs1555394777
NM_000138.5(FBN1):c.6780_6783del (p.Glu2260fs) rs2141232621
NM_000138.5(FBN1):c.6783_6784insT (p.Gln2262fs) rs2043017815
NM_000138.5(FBN1):c.6783dup (p.Gln2262fs) rs2141232621
NM_000138.5(FBN1):c.6784C>T (p.Gln2262Ter) rs1060501023
NM_000138.5(FBN1):c.6784del (p.Gln2262fs)
NM_000138.5(FBN1):c.6786A>G (p.Gln2262=) rs745366819
NM_000138.5(FBN1):c.6786_6787del (p.Gln2262fs) rs1555394776
NM_000138.5(FBN1):c.6787A>G (p.Met2263Val) rs2043017749
NM_000138.5(FBN1):c.6790G>T (p.Glu2264Ter) rs2505420133
NM_000138.5(FBN1):c.6790del (p.Glu2264fs) rs1555394775
NM_000138.5(FBN1):c.6793T>A (p.Cys2265Ser) rs1057522272
NM_000138.5(FBN1):c.6793T>C (p.Cys2265Arg) rs1057522272
NM_000138.5(FBN1):c.6793T>G (p.Cys2265Gly) rs1057522272
NM_000138.5(FBN1):c.6793_6800dup (p.Leu2268fs) rs193922227
NM_000138.5(FBN1):c.6794G>A (p.Cys2265Tyr) rs1057520679
NM_000138.5(FBN1):c.679C>T (p.Gln227Ter) rs2044025100
NM_000138.5(FBN1):c.6800del (p.Asn2267fs) rs1566894288
NM_000138.5(FBN1):c.6801C>A (p.Asn2267Lys) rs886051245
NM_000138.5(FBN1):c.6801C>G (p.Asn2267Lys) rs886051245
NM_000138.5(FBN1):c.6801C>T (p.Asn2267=) rs886051245
NM_000138.5(FBN1):c.6804del (p.Ile2269fs) rs1597520683
NM_000138.5(FBN1):c.6806T>A (p.Ile2269Asn) rs193922228
NM_000138.5(FBN1):c.6807T>A (p.Ile2269=) rs1566894280
NM_000138.5(FBN1):c.6808G>T (p.Gly2270Cys) rs1060501025
NM_000138.5(FBN1):c.6809G>T (p.Gly2270Val) rs1566894274
NM_000138.5(FBN1):c.680_690del (p.Gln227fs) rs1555401671
NM_000138.5(FBN1):c.6815A>G (p.Tyr2272Cys) rs2141232534
NM_000138.5(FBN1):c.6816T>C (p.Tyr2272=)
NM_000138.5(FBN1):c.6818T>C (p.Met2273Thr)
NM_000138.5(FBN1):c.681G>A (p.Gln227=) rs2141358095
NM_000138.5(FBN1):c.6820T>C (p.Cys2274Arg) rs869025412
NM_000138.5(FBN1):c.6823A>T (p.Ile2275Phe)
NM_000138.5(FBN1):c.6826T>G (p.Cys2276Gly) rs2043017257
NM_000138.5(FBN1):c.6828T>G (p.Cys2276Trp) rs1597520625
NM_000138.5(FBN1):c.682C>T (p.Pro228Ser) rs2505661252
NM_000138.5(FBN1):c.6830G>A (p.Gly2277Glu) rs2043017212
NM_000138.5(FBN1):c.6832C>G (p.Pro2278Ala) rs363835
NM_000138.5(FBN1):c.6832C>T (p.Pro2278Ser) rs363835
NM_000138.5(FBN1):c.6834del (p.Tyr2280fs) rs1597520619
NM_000138.5(FBN1):c.6836G>C (p.Gly2279Ala)
NM_000138.5(FBN1):c.6836G>T (p.Gly2279Val) rs2043017049
NM_000138.5(FBN1):c.6837G>C (p.Gly2279=) rs140584234
NM_000138.5(FBN1):c.6837del (p.Tyr2280fs) rs2043017030
NM_000138.5(FBN1):c.6838dup (p.Tyr2280fs) rs2505419892
NM_000138.5(FBN1):c.6839A>G (p.Tyr2280Cys) rs2505419887
NM_000138.5(FBN1):c.6841C>T (p.Gln2281Ter) rs397515840
NM_000138.5(FBN1):c.6844C>T (p.Arg2282Trp) rs765205164
NM_000138.5(FBN1):c.6850C>G (p.Pro2284Ala)
NM_000138.5(FBN1):c.6854A>G (p.Asp2285Gly) rs1160071679
NM_000138.5(FBN1):c.6856G>T (p.Gly2286Ter) rs1555394756
NM_000138.5(FBN1):c.6857G>A (p.Gly2286Glu) rs1455580241
NM_000138.5(FBN1):c.6858A>G (p.Gly2286=) rs2505419801
NM_000138.5(FBN1):c.6859G>A (p.Glu2287Lys) rs551736585
NM_000138.5(FBN1):c.6862G>A (p.Gly2288Ser) rs2505419791
NM_000138.5(FBN1):c.6864C>T (p.Gly2288=) rs2505419779
NM_000138.5(FBN1):c.6865T>A (p.Cys2289Ser) rs869025413
NM_000138.5(FBN1):c.6865T>C (p.Cys2289Arg) rs869025413
NM_000138.5(FBN1):c.6866G>A (p.Cys2289Tyr) rs1566894230
NM_000138.5(FBN1):c.6866G>C (p.Cys2289Ser) rs1566894230
NM_000138.5(FBN1):c.6867T>C (p.Cys2289=)
NM_000138.5(FBN1):c.6868G>A (p.Val2290Ile) rs2505419759
NM_000138.5(FBN1):c.6869del (p.Val2290fs) rs2141232407
NM_000138.5(FBN1):c.6871+10T>C rs745421627
NM_000138.5(FBN1):c.6871+11C>A
NM_000138.5(FBN1):c.6871+16T>C rs1404113355
NM_000138.5(FBN1):c.6871+1G>A rs1555394753
NM_000138.5(FBN1):c.6871+1G>T rs1555394753
NM_000138.5(FBN1):c.6871+3A>G
NM_000138.5(FBN1):c.6871+3A>T rs1555394752
NM_000138.5(FBN1):c.6871+7G>A
NM_000138.5(FBN1):c.6871+7G>C rs1597520513
NM_000138.5(FBN1):c.6871+8G>C rs191529671
NM_000138.5(FBN1):c.6871+9A>G rs2505419725
NM_000138.5(FBN1):c.6872-11A>G
NM_000138.5(FBN1):c.6872-13T>C rs2505415544
NM_000138.5(FBN1):c.6872-14A>G rs1064793119
NM_000138.5(FBN1):c.6872-1G>T rs1597518951
NM_000138.5(FBN1):c.6872-1_6881dup rs2042999380
NM_000138.5(FBN1):c.6872-3C>G rs2042999551
NM_000138.5(FBN1):c.6872-7C>T rs2505415523
NM_000138.5(FBN1):c.6872-955C>G
NM_000138.5(FBN1):c.6872-961A>G rs1597519658
NM_000138.5(FBN1):c.6872-961A>T rs1597519658
NM_000138.5(FBN1):c.6872-9A>G rs794728259
NM_000138.5(FBN1):c.6872A>G (p.Asp2291Gly) rs370283154
NM_000138.5(FBN1):c.6879T>G (p.Asn2293Lys) rs2505415466
NM_000138.5(FBN1):c.687C>T (p.His229=) rs1391600366
NM_000138.5(FBN1):c.6880G>A (p.Glu2294Lys) rs2505415458
NM_000138.5(FBN1):c.6880G>T (p.Glu2294Ter)
NM_000138.5(FBN1):c.6881A>C (p.Glu2294Ala) rs1555394647
NM_000138.5(FBN1):c.6883T>C (p.Cys2295Arg) rs1555394644
NM_000138.5(FBN1):c.6883T>G (p.Cys2295Gly) rs1555394644
NM_000138.5(FBN1):c.6884G>A (p.Cys2295Tyr) rs886038949
NM_000138.5(FBN1):c.6885T>G (p.Cys2295Trp) rs1480832655
NM_000138.5(FBN1):c.6886C>T (p.Gln2296Ter) rs727504410
NM_000138.5(FBN1):c.6886del (p.Gln2296fs) rs1555394641
NM_000138.5(FBN1):c.6888G>T (p.Gln2296His) rs363830
NM_000138.5(FBN1):c.6890C>G (p.Thr2297Arg) rs773785908
NM_000138.5(FBN1):c.6896del (p.Pro2299fs) rs2141230021
NM_000138.5(FBN1):c.6899G>A (p.Gly2300Glu)
NM_000138.5(FBN1):c.6900G>A (p.Gly2300=) rs2042998904
NM_000138.5(FBN1):c.6901A>T (p.Ile2301Phe) rs1428185990
NM_000138.5(FBN1):c.6905G>A (p.Cys2302Tyr) rs2042998789
NM_000138.5(FBN1):c.6906T>G (p.Cys2302Trp) rs1555394634
NM_000138.5(FBN1):c.6906_6907del (p.Cys2302_Glu2303delinsTer) rs2141229990
NM_000138.5(FBN1):c.6911A>C (p.Asn2304Thr) rs375939213
NM_000138.5(FBN1):c.6915G>C (p.Gly2305=) rs2505415301
NM_000138.5(FBN1):c.6916_6934del (p.Arg2306fs) rs1555394630
NM_000138.5(FBN1):c.6918C>G (p.Arg2306=)
NM_000138.5(FBN1):c.6919T>C (p.Cys2307Arg) rs2505415290
NM_000138.5(FBN1):c.691del (p.Cys231fs) rs2505661213
NM_000138.5(FBN1):c.6920G>A (p.Cys2307Tyr) rs137854457
NM_000138.5(FBN1):c.6920G>C (p.Cys2307Ser) rs137854457
NM_000138.5(FBN1):c.6921C>G (p.Cys2307Trp)
NM_000138.5(FBN1):c.6925A>T (p.Asn2309Tyr) rs2141229967
NM_000138.5(FBN1):c.6927del (p.Asn2309fs) rs1555394633
NM_000138.5(FBN1):c.6931C>T (p.Arg2311Cys) rs2505415219
NM_000138.5(FBN1):c.6931del (p.Arg2311fs) rs2141229950
NM_000138.5(FBN1):c.6932dup (p.Gly2312fs) rs1555394631
NM_000138.5(FBN1):c.6934G>A (p.Gly2312Arg) rs2505415189
NM_000138.5(FBN1):c.6938G>T (p.Ser2313Ile) rs2505415179
NM_000138.5(FBN1):c.6940_6943dup (p.Thr2315fs) rs1566893738
NM_000138.5(FBN1):c.6947G>A (p.Cys2316Tyr) rs1555394629
NM_000138.5(FBN1):c.6947G>T (p.Cys2316Phe) rs1555394629
NM_000138.5(FBN1):c.6948T>A (p.Cys2316Ter) rs1060501016
NM_000138.5(FBN1):c.6949G>T (p.Glu2317Ter) rs1555394628
NM_000138.5(FBN1):c.6951del (p.Glu2317fs) rs2141229903
NM_000138.5(FBN1):c.6952T>C (p.Cys2318Arg) rs111588631
NM_000138.5(FBN1):c.6953G>A (p.Cys2318Tyr) rs1555394626
NM_000138.5(FBN1):c.6953G>T (p.Cys2318Phe)
NM_000138.5(FBN1):c.6954T>C (p.Cys2318=) rs2505415103
NM_000138.5(FBN1):c.6954dup (p.Asn2319Ter) rs1597518796
NM_000138.5(FBN1):c.6956A>G (p.Asn2319Ser) rs2505415086
NM_000138.5(FBN1):c.6957T>C (p.Asn2319=) rs1290478839
NM_000138.5(FBN1):c.6959A>G (p.Asp2320Gly) rs794728261
NM_000138.5(FBN1):c.6959A>T (p.Asp2320Val) rs794728261
NM_000138.5(FBN1):c.695G>A (p.Arg232His) rs773685409
NM_000138.5(FBN1):c.6963del (p.Phe2322fs) rs1060501051
NM_000138.5(FBN1):c.6964delinsGG (p.Phe2322fs) rs2505415054
NM_000138.5(FBN1):c.6966del (p.Phe2322fs) rs1555394623
NM_000138.5(FBN1):c.6968C>T (p.Thr2323Ile)
NM_000138.5(FBN1):c.6972C>G (p.Ala2324=) rs1597518738
NM_000138.5(FBN1):c.697C>A (p.Arg233Ser) rs397515841
NM_000138.5(FBN1):c.697C>T (p.Arg233Cys) rs397515841
NM_000138.5(FBN1):c.6980A>G (p.Asn2327Ser) rs2505414991
NM_000138.5(FBN1):c.6982C>T (p.Gln2328Ter) rs371097218
NM_000138.5(FBN1):c.6985G>A (p.Asp2329Asn) rs2505414972
NM_000138.5(FBN1):c.6987C>T (p.Asp2329=) rs363831
NM_000138.5(FBN1):c.6988G>T (p.Glu2330Ter) rs1042807324
NM_000138.5(FBN1):c.6991T>C (p.Cys2331Arg)
NM_000138.5(FBN1):c.6992G>T (p.Cys2331Phe) rs397515842
NM_000138.5(FBN1):c.6992_6997+6del rs2141229796
NM_000138.5(FBN1):c.6993C>A (p.Cys2331Ter) rs534811966
NM_000138.5(FBN1):c.6996del (p.Asp2333fs) rs2141229819
NM_000138.5(FBN1):c.6997+10G>A rs2042997079
NM_000138.5(FBN1):c.6997+11T>C
NM_000138.5(FBN1):c.6997+15C>T rs1453967282
NM_000138.5(FBN1):c.6997+17_6997+18delinsGA rs2141229764
NM_000138.5(FBN1):c.6997+17_6997+18delinsGT rs2141229764
NM_000138.5(FBN1):c.6997+18C>T rs148116316
NM_000138.5(FBN1):c.6997+19G>A rs767445722
NM_000138.5(FBN1):c.6997+1G>A rs2042997306
NM_000138.5(FBN1):c.6997+1G>C rs2042997306
NM_000138.5(FBN1):c.6997+20C>T rs759344061
NM_000138.5(FBN1):c.6997+4A>G rs727503055
NM_000138.5(FBN1):c.6997+5G>A rs2042997205
NM_000138.5(FBN1):c.6997+5G>C
NM_000138.5(FBN1):c.6997+5G>T rs2042997205
NM_000138.5(FBN1):c.6997+5dup rs2505414831
NM_000138.5(FBN1):c.6997+8C>T rs780185448
NM_000138.5(FBN1):c.6998-13A>G rs2042989627
NM_000138.5(FBN1):c.6998-16A>G
NM_000138.5(FBN1):c.6998-17T>C rs1479346501
NM_000138.5(FBN1):c.6998-1G>A rs2505412931
NM_000138.5(FBN1):c.6998-22_6998-5del rs2505412944
NM_000138.5(FBN1):c.6998-2A>T rs1555394585
NM_000138.5(FBN1):c.6998-40del rs193922229
NM_000138.5(FBN1):c.7003C>A (p.Arg2335=) rs794728262
NM_000138.5(FBN1):c.7003C>G (p.Arg2335Gly) rs794728262
NM_000138.5(FBN1):c.7003C>T (p.Arg2335Trp) rs794728262
NM_000138.5(FBN1):c.7004G>A (p.Arg2335Gln) rs761248433
NM_000138.5(FBN1):c.7007A>T (p.Glu2336Val) rs2505412871
NM_000138.5(FBN1):c.700G>T (p.Gly234Cys) rs2505661178
NM_000138.5(FBN1):c.7010G>C (p.Gly2337Ala) rs2505412858
NM_000138.5(FBN1):c.7013A>G (p.Tyr2338Cys) rs2141229151
NM_000138.5(FBN1):c.7014C>G (p.Tyr2338Ter) rs1555394582
NM_000138.5(FBN1):c.7014C>T (p.Tyr2338=) rs1555394582
NM_000138.5(FBN1):c.7015T>C (p.Cys2339Arg) rs1555394581
NM_000138.5(FBN1):c.7015T>G (p.Cys2339Gly)
NM_000138.5(FBN1):c.7016G>A (p.Cys2339Tyr) rs1555394580
NM_000138.5(FBN1):c.7016_7020dup (p.Thr2341fs) rs2141229138
NM_000138.5(FBN1):c.7018T>C (p.Phe2340Leu)
NM_000138.5(FBN1):c.701G>A (p.Gly234Asp) rs1555401670
NM_000138.5(FBN1):c.7022_7023del (p.Thr2341fs) rs1555394579
NM_000138.5(FBN1):c.7022_7039del (p.Thr2341_Asn2346del) rs2505412726
NM_000138.5(FBN1):c.7025_7026del (p.Glu2342fs)
NM_000138.5(FBN1):c.7026G>A (p.Glu2342=) rs1555394578
NM_000138.5(FBN1):c.7027G>T (p.Val2343Leu) rs761076868
NM_000138.5(FBN1):c.702C>T (p.Gly234=) rs2044024705
NM_000138.5(FBN1):c.7032A>G (p.Leu2344=) rs2141229116
NM_000138.5(FBN1):c.7032_7054del (p.Asn2346fs) rs1597518038
NM_000138.5(FBN1):c.7033C>T (p.Gln2345Ter)
NM_000138.5(FBN1):c.7037del (p.Asn2346fs) rs1131691656
NM_000138.5(FBN1):c.7038C>T (p.Asn2346=) rs2505412730
NM_000138.5(FBN1):c.7039A>T (p.Met2347Leu) rs1284375434
NM_000138.5(FBN1):c.7039_7040del (p.Met2347fs) rs794728319
NM_000138.5(FBN1):c.703T>G (p.Phe235Val)
NM_000138.5(FBN1):c.7041G>A (p.Met2347Ile) rs2505412691
NM_000138.5(FBN1):c.7042T>C (p.Cys2348Arg) rs1555394576
NM_000138.5(FBN1):c.7043G>A (p.Cys2348Tyr)
NM_000138.5(FBN1):c.7043_7044del (p.Cys2348fs) rs2141229101
NM_000138.5(FBN1):c.7050C>T (p.Ile2350=) rs772287755
NM_000138.5(FBN1):c.7051G>C (p.Gly2351Arg) rs746127796
NM_000138.5(FBN1):c.7054del (p.Ser2352fs) rs2505412622
NM_000138.5(FBN1):c.7058del (p.Ser2353fs) rs1555394574
NM_000138.5(FBN1):c.7061A>G (p.Asn2354Ser) rs2505412585
NM_000138.5(FBN1):c.7062C>T (p.Asn2354=)
NM_000138.5(FBN1):c.7064G>A (p.Arg2355Lys) rs376372763
NM_000138.5(FBN1):c.7070_7071dup (p.Val2358fs) rs1555394571
NM_000138.5(FBN1):c.7071del (p.Val2358fs) rs1555394571
NM_000138.5(FBN1):c.7074C>T (p.Val2358=) rs2505412517
NM_000138.5(FBN1):c.7080dup (p.Ser2361fs) rs1597517970
NM_000138.5(FBN1):c.7082C>A (p.Ser2361Ter) rs397515844
NM_000138.5(FBN1):c.7082C>G (p.Ser2361Trp) rs397515844
NM_000138.5(FBN1):c.7084G>T (p.Glu2362Ter) rs1555394570
NM_000138.5(FBN1):c.7087T>A (p.Cys2363Ser)
NM_000138.5(FBN1):c.7087T>G (p.Cys2363Gly) rs1597517935
NM_000138.5(FBN1):c.7088G>T (p.Cys2363Phe) rs2042988482
NM_000138.5(FBN1):c.7089CTG[1] (p.Cys2365del) rs2505412414
NM_000138.5(FBN1):c.7091G>C (p.Cys2364Ser) rs1597517925
NM_000138.5(FBN1):c.7092C>A (p.Cys2364Ter) rs1555394569
NM_000138.5(FBN1):c.7093T>C (p.Cys2365Arg)
NM_000138.5(FBN1):c.7094G>A (p.Cys2365Tyr) rs397515845
NM_000138.5(FBN1):c.7099G>T (p.Gly2367Ter) rs368978109
NM_000138.5(FBN1):c.7106G>C (p.Arg2369Thr) rs2505412359
NM_000138.5(FBN1):c.7109G>A (p.Gly2370Asp) rs2042988229
NM_000138.5(FBN1):c.7109del (p.Gly2370fs) rs869025422
NM_000138.5(FBN1):c.710del (p.Pro237fs) rs2505661150
NM_000138.5(FBN1):c.7111T>C (p.Trp2371Arg) rs794728264
NM_000138.5(FBN1):c.7112G>A (p.Trp2371Ter) rs1555394567
NM_000138.5(FBN1):c.7113G>A (p.Trp2371Ter) rs886039063
NM_000138.5(FBN1):c.7114G>A (p.Gly2372Ser) rs2042988137
NM_000138.5(FBN1):c.7115G>T (p.Gly2372Val) rs112369155
NM_000138.5(FBN1):c.7116dup (p.Pro2373fs) rs2141228932
NM_000138.5(FBN1):c.7117C>T (p.Pro2373Ser) rs2505412288
NM_000138.5(FBN1):c.7118C>T (p.Pro2373Leu)
NM_000138.5(FBN1):c.7119_7120insGGAC (p.His2374fs) rs1597517858
NM_000138.5(FBN1):c.711A>G (p.Pro237=) rs2044024613
NM_000138.5(FBN1):c.7121A>G (p.His2374Arg) rs1060501018
NM_000138.5(FBN1):c.7121dup (p.His2374fs)
NM_000138.5(FBN1):c.7125T>A (p.Cys2375Ter) rs794728265
NM_000138.5(FBN1):c.7134C>G (p.Cys2378Trp) rs1555394562
NM_000138.5(FBN1):c.7136C>T (p.Pro2379Leu) rs1295154212
NM_000138.5(FBN1):c.7139del (p.Phe2380fs) rs1555394561
NM_000138.5(FBN1):c.7139dup (p.Gln2381fs) rs1555394561
NM_000138.5(FBN1):c.7140C>G (p.Phe2380Leu) rs2141228892
NM_000138.5(FBN1):c.7141C>T (p.Gln2381Ter) rs869025414
NM_000138.5(FBN1):c.7143G>A (p.Gln2381=)
NM_000138.5(FBN1):c.7146G>T (p.Gly2382=) rs2505412162
NM_000138.5(FBN1):c.7149T>A (p.Thr2383=) rs2141228878
NM_000138.5(FBN1):c.7149T>G (p.Thr2383=) rs2141228878
NM_000138.5(FBN1):c.7151_7152del (p.Val2384fs) rs869025423
NM_000138.5(FBN1):c.7154C>T (p.Ala2385Val) rs2505412128
NM_000138.5(FBN1):c.7158C>T (p.Phe2386=) rs1334850076
NM_000138.5(FBN1):c.7160A>G (p.Lys2387Arg) rs2505412108
NM_000138.5(FBN1):c.7162A>G (p.Lys2388Glu) rs1566893398
NM_000138.5(FBN1):c.7167_7168del (p.Cys2390fs) rs397515846
NM_000138.5(FBN1):c.7168T>A (p.Cys2390Ser) rs397515847
NM_000138.5(FBN1):c.7168T>C (p.Cys2390Arg) rs397515847
NM_000138.5(FBN1):c.7169G>A (p.Cys2390Tyr) rs864622754
NM_000138.5(FBN1):c.716T>G (p.Ile239Ser) rs138990525
NM_000138.5(FBN1):c.7172C>G (p.Pro2391Arg) rs2141228848
NM_000138.5(FBN1):c.7176T>C (p.His2392=) rs2505412036
NM_000138.5(FBN1):c.7178G>C (p.Gly2393Ala) rs2505412023
NM_000138.5(FBN1):c.7178dup (p.Arg2394fs) rs1597517771
NM_000138.5(FBN1):c.7180C>G (p.Arg2394Gly)
NM_000138.5(FBN1):c.7180C>T (p.Arg2394Ter) rs397515848
NM_000138.5(FBN1):c.7184G>A (p.Gly2395Glu) rs397515849
NM_000138.5(FBN1):c.7184G>T (p.Gly2395Val) rs397515849
NM_000138.5(FBN1):c.718C>T (p.Arg240Cys) rs137854480
NM_000138.5(FBN1):c.7191G>T (p.Met2397Ile) rs2042987428
NM_000138.5(FBN1):c.7191dup (p.Thr2398fs) rs1555394559
NM_000138.5(FBN1):c.7193C>G (p.Thr2398Ser)
NM_000138.5(FBN1):c.7193C>T (p.Thr2398Ile) rs1169351376
NM_000138.5(FBN1):c.7199G>A (p.Gly2400Glu) rs794728268
NM_000138.5(FBN1):c.719G>A (p.Arg240His) rs768744583
NM_000138.5(FBN1):c.719G>T (p.Arg240Leu) rs768744583
NM_000138.5(FBN1):c.7204+15G>A rs2505411873
NM_000138.5(FBN1):c.7204+1G>A rs1555394557
NM_000138.5(FBN1):c.7204+1G>T rs1555394557
NM_000138.5(FBN1):c.7204+2T>C rs1555394556
NM_000138.5(FBN1):c.7204+3A>G rs1057518076
NM_000138.5(FBN1):c.7204+3A>T rs1057518076
NM_000138.5(FBN1):c.7204G>A (p.Asp2402Asn) rs1057524757
NM_000138.5(FBN1):c.7205-10T>A rs1386359432
NM_000138.5(FBN1):c.7205-18A>G rs1555394451
NM_000138.5(FBN1):c.7205-18A>T rs1555394451
NM_000138.5(FBN1):c.7205-1G>A rs794728266
NM_000138.5(FBN1):c.7205-1G>C rs794728266
NM_000138.5(FBN1):c.7205-2A>C rs1555394450
NM_000138.5(FBN1):c.7205-2A>G rs1555394450
NM_000138.5(FBN1):c.7208T>A (p.Ile2403Asn) rs1555394449
NM_000138.5(FBN1):c.720C>T (p.Arg240=)
NM_000138.5(FBN1):c.7212T>C (p.Asp2404=) rs2141227085
NM_000138.5(FBN1):c.7213del (p.Glu2405fs)
NM_000138.5(FBN1):c.7216T>C (p.Cys2406Arg) rs2042976167
NM_000138.5(FBN1):c.7217G>A (p.Cys2406Tyr) rs1131691479
NM_000138.5(FBN1):c.7217G>C (p.Cys2406Ser) rs1131691479
NM_000138.5(FBN1):c.7217_7226delinsTACAGA (p.Cys2406fs) rs1597516501
NM_000138.5(FBN1):c.7218C>G (p.Cys2406Trp)
NM_000138.5(FBN1):c.7221_7225del (p.Lys2407fs) rs1597516509
NM_000138.5(FBN1):c.7225A>G (p.Ile2409Val) rs2505408379
NM_000138.5(FBN1):c.7228C>G (p.His2410Asp) rs548057493
NM_000138.5(FBN1):c.7228_7232dup (p.Val2412fs) rs1555394445
NM_000138.5(FBN1):c.7229A>C (p.His2410Pro) rs193922230
NM_000138.5(FBN1):c.7235T>C (p.Val2412Ala) rs1060501061
NM_000138.5(FBN1):c.7236T>C (p.Val2412=) rs1306021418
NM_000138.5(FBN1):c.7238G>A (p.Cys2413Tyr) rs1566892915
NM_000138.5(FBN1):c.7238G>C (p.Cys2413Ser) rs1566892915
NM_000138.5(FBN1):c.7239C>T (p.Cys2413=) rs2042975041
NM_000138.5(FBN1):c.723G>A (p.Thr241=) rs757264206
NM_000138.5(FBN1):c.7240C>T (p.Arg2414Ter) rs112550005
NM_000138.5(FBN1):c.7242A>C (p.Arg2414=) rs1351888568
NM_000138.5(FBN1):c.7244A>T (p.Asn2415Ile) rs1566892910
NM_000138.5(FBN1):c.7244_7251del (p.Asn2415fs) rs2505408196
NM_000138.5(FBN1):c.7245del (p.Asn2415fs) rs2141227006
NM_000138.5(FBN1):c.7246G>A (p.Gly2416Arg) rs794728269
NM_000138.5(FBN1):c.7247G>T (p.Gly2416Val) rs1555394442
NM_000138.5(FBN1):c.7249G>A (p.Glu2417Lys) rs2042974889
NM_000138.5(FBN1):c.7249G>T (p.Glu2417Ter) rs2042974889
NM_000138.5(FBN1):c.7250A>G (p.Glu2417Gly) rs2505408205
NM_000138.5(FBN1):c.7251A>C (p.Glu2417Asp) rs2505408188
NM_000138.5(FBN1):c.7251_7262del (p.Glu2417_Asn2420del) rs2505408108
NM_000138.5(FBN1):c.7251dup (p.Cys2418fs) rs1566892906
NM_000138.5(FBN1):c.7252T>A (p.Cys2418Ser) rs1555394441
NM_000138.5(FBN1):c.7252T>C (p.Cys2418Arg) rs1555394441
NM_000138.5(FBN1):c.7253G>A (p.Cys2418Tyr) rs794728270
NM_000138.5(FBN1):c.7255G>A (p.Val2419Ile) rs2505408167
NM_000138.5(FBN1):c.7258A>C (p.Asn2420His) rs2505408149
NM_000138.5(FBN1):c.7258_7260del (p.Asn2420del)
NM_000138.5(FBN1):c.7259A>G (p.Asn2420Ser) rs2141226971
NM_000138.5(FBN1):c.7259del (p.Asn2420fs) rs869025424
NM_000138.5(FBN1):c.7267G>T (p.Gly2423Ter) rs794728271
NM_000138.5(FBN1):c.726A>T (p.Gly242=) rs2505661101
NM_000138.5(FBN1):c.7271C>A (p.Ser2424Ter) rs2505408062
NM_000138.5(FBN1):c.7271C>G (p.Ser2424Ter)
NM_000138.5(FBN1):c.7274A>G (p.Tyr2425Cys) rs1057518809
NM_000138.5(FBN1):c.7276_7278del (p.His2426del) rs2141226930
NM_000138.5(FBN1):c.7276_7283del (p.His2426fs) rs2505408007
NM_000138.5(FBN1):c.7279T>C (p.Cys2427Arg) rs1566892883
NM_000138.5(FBN1):c.7279T>G (p.Cys2427Gly)
NM_000138.5(FBN1):c.7286G>A (p.Cys2429Tyr) rs2141226916
NM_000138.5(FBN1):c.7286G>T (p.Cys2429Phe) rs2141226916
NM_000138.5(FBN1):c.7287del (p.Ile2428_Cys2429insTer) rs2042974444
NM_000138.5(FBN1):c.7295G>C (p.Gly2432Ala) rs1266993955
NM_000138.5(FBN1):c.7298A>G (p.Tyr2433Cys) rs1555394437
NM_000138.5(FBN1):c.7301C>G (p.Thr2434Ser)
NM_000138.5(FBN1):c.7303C>G (p.Pro2435Ala) rs1184775982
NM_000138.5(FBN1):c.7305A>G (p.Pro2435=) rs2042974267
NM_000138.5(FBN1):c.7306G>A (p.Asp2436Asn) rs969046240
NM_000138.5(FBN1):c.7309A>G (p.Ile2437Val) rs755405993
NM_000138.5(FBN1):c.7314del (p.Thr2440fs) rs2141226866
NM_000138.5(FBN1):c.7317G>A (p.Gly2439=) rs766871786
NM_000138.5(FBN1):c.7323del (p.Cys2442fs) rs1555394436
NM_000138.5(FBN1):c.7324T>A (p.Cys2442Ser) rs1555394435
NM_000138.5(FBN1):c.7324T>C (p.Cys2442Arg)
NM_000138.5(FBN1):c.7325G>A (p.Cys2442Tyr) rs1597516347
NM_000138.5(FBN1):c.7326T>G (p.Cys2442Trp)
NM_000138.5(FBN1):c.7327G>A (p.Val2443Ile) rs763350185
NM_000138.5(FBN1):c.7328T>C (p.Val2443Ala) rs2141226842
NM_000138.5(FBN1):c.732T>A (p.Cys244Ter) rs878853689
NM_000138.5(FBN1):c.7330+11A>G rs1331393999
NM_000138.5(FBN1):c.7330+17G>A rs2042973885
NM_000138.5(FBN1):c.7330+1G>T rs1555394433
NM_000138.5(FBN1):c.7330+3A>G rs2042974020
NM_000138.5(FBN1):c.7330+3_7330+6del rs1597516325
NM_000138.5(FBN1):c.7330G>T (p.Asp2444Tyr) rs1555394434
NM_000138.5(FBN1):c.7331-14T>A
NM_000138.5(FBN1):c.7331-16A>G rs2505407044
NM_000138.5(FBN1):c.7331-17T>C rs2141226524
NM_000138.5(FBN1):c.7331-17dup
NM_000138.5(FBN1):c.7331-19T>C
NM_000138.5(FBN1):c.7331-1G>A rs1555394412
NM_000138.5(FBN1):c.7331-1G>C rs1555394412
NM_000138.5(FBN1):c.7331-1_7343dup rs2042971987
NM_000138.5(FBN1):c.7331-2A>G rs2505406998
NM_000138.5(FBN1):c.7331-6T>C
NM_000138.5(FBN1):c.7331A>G (p.Asp2444Gly) rs1060501093
NM_000138.5(FBN1):c.7334T>C (p.Leu2445Pro) rs2505406977
NM_000138.5(FBN1):c.7335G>A (p.Leu2445=) rs754460527
NM_000138.5(FBN1):c.7339G>C (p.Glu2447Gln) rs137854464
NM_000138.5(FBN1):c.733C>T (p.Gln245Ter) rs1555401667
NM_000138.5(FBN1):c.7341G>A (p.Glu2447=) rs1437889689
NM_000138.5(FBN1):c.7341G>C (p.Glu2447Asp)
NM_000138.5(FBN1):c.7342T>C (p.Cys2448Arg) rs1566892757
NM_000138.5(FBN1):c.7343G>A (p.Cys2448Tyr) rs2042971962
NM_000138.5(FBN1):c.7347_7358del (p.Asn2449_Pro2452del) rs2042971876
NM_000138.5(FBN1):c.7348C>T (p.Gln2450Ter)
NM_000138.5(FBN1):c.7349A>G (p.Gln2450Arg) rs2505406900
NM_000138.5(FBN1):c.734A>C (p.Gln245Pro) rs2505661078
NM_000138.5(FBN1):c.7351_7359del (p.Ala2451_Lys2453del)
NM_000138.5(FBN1):c.735A>G (p.Gln245=)
NM_000138.5(FBN1):c.7360C>T (p.Pro2454Ser)
NM_000138.5(FBN1):c.7364G>A (p.Cys2455Tyr) rs1555394409
NM_000138.5(FBN1):c.7365C>G (p.Cys2455Trp) rs1555394408
NM_000138.5(FBN1):c.7366A>C (p.Asn2456His) rs2141226433
NM_000138.5(FBN1):c.737-17C>G rs1471928324
NM_000138.5(FBN1):c.737-17_740del rs1597591735
NM_000138.5(FBN1):c.737-19G>C rs1566921645
NM_000138.5(FBN1):c.737-19_737-16del rs748812494
NM_000138.5(FBN1):c.737-20T>G
NM_000138.5(FBN1):c.737-23_737-20del rs72041020
NM_000138.5(FBN1):c.737-25CT[2] rs72041020
NM_000138.5(FBN1):c.737-6dup
NM_000138.5(FBN1):c.737-9A>G rs1060501020
NM_000138.5(FBN1):c.7371dup (p.Ile2458fs) rs1555394407
NM_000138.5(FBN1):c.7372A>G (p.Ile2458Val) rs2505406819
NM_000138.5(FBN1):c.7374C>G (p.Ile2458Met) rs2042971724
NM_000138.5(FBN1):c.7376G>A (p.Cys2459Tyr) rs1555394406
NM_000138.5(FBN1):c.7376G>T (p.Cys2459Phe) rs1555394406
NM_000138.5(FBN1):c.737A>T (p.Asp246Val) rs2505655665
NM_000138.5(FBN1):c.7382A>G (p.Asn2461Ser) rs1555394405
NM_000138.5(FBN1):c.7382dup (p.Asn2461fs) rs2141226412
NM_000138.5(FBN1):c.7383C>G (p.Asn2461Lys) rs754047254
NM_000138.5(FBN1):c.7383del (p.Asn2461fs) rs2141226409
NM_000138.5(FBN1):c.7384A>C (p.Thr2462Pro) rs371278936
NM_000138.5(FBN1):c.7384A>G (p.Thr2462Ala) rs371278936
NM_000138.5(FBN1):c.7384A>T (p.Thr2462Ser) rs371278936
NM_000138.5(FBN1):c.7387G>T (p.Glu2463Ter) rs1566892735
NM_000138.5(FBN1):c.7392G>C (p.Gly2464=) rs2042971517
NM_000138.5(FBN1):c.7394G>T (p.Ser2465Ile) rs2141226387
NM_000138.5(FBN1):c.7397A>G (p.Tyr2466Cys) rs1555394403
NM_000138.5(FBN1):c.7398C>A (p.Tyr2466Ter) rs1555394402
NM_000138.5(FBN1):c.7398C>G (p.Tyr2466Ter) rs1555394402
NM_000138.5(FBN1):c.7399C>T (p.Gln2467Ter) rs1566892727
NM_000138.5(FBN1):c.7399del (p.Gln2467fs) rs2042971434
NM_000138.5(FBN1):c.7400A>C (p.Gln2467Pro) rs770839761
NM_000138.5(FBN1):c.7402T>C (p.Cys2468Arg) rs1085308004
NM_000138.5(FBN1):c.7403G>A (p.Cys2468Tyr) rs1555394400
NM_000138.5(FBN1):c.7406C>A (p.Ser2469Ter) rs2141226337
NM_000138.5(FBN1):c.7407A>G (p.Ser2469=) rs193922232
NM_000138.5(FBN1):c.7408T>A (p.Cys2470Ser) rs1555394399
NM_000138.5(FBN1):c.7408T>C (p.Cys2470Arg) rs1555394399
NM_000138.5(FBN1):c.7409G>A (p.Cys2470Tyr) rs1555394398
NM_000138.5(FBN1):c.7409G>T (p.Cys2470Phe) rs1555394398
NM_000138.5(FBN1):c.7409_7410delinsAT (p.Cys2470Tyr) rs2141226319
NM_000138.5(FBN1):c.7410C>G (p.Cys2470Trp) rs1555394397
NM_000138.5(FBN1):c.7412C>T (p.Pro2471Leu) rs193922233
NM_000138.5(FBN1):c.7415A>G (p.Lys2472Arg) rs2505406645
NM_000138.5(FBN1):c.7418G>A (p.Gly2473Asp) rs2042971166
NM_000138.5(FBN1):c.7421A>G (p.Tyr2474Cys) rs869025415
NM_000138.5(FBN1):c.7421del (p.Tyr2474fs) rs1060501060
NM_000138.5(FBN1):c.7428G>A (p.Leu2476=) rs1229985371
NM_000138.5(FBN1):c.7429C>T (p.Gln2477Ter) rs2141226269
NM_000138.5(FBN1):c.7432G>T (p.Glu2478Ter) rs537570299
NM_000138.5(FBN1):c.7434G>A (p.Glu2478=)
NM_000138.5(FBN1):c.7440_7442del (p.Arg2481del) rs1566892703
NM_000138.5(FBN1):c.7447T>C (p.Cys2483Arg) rs1555394391
NM_000138.5(FBN1):c.7447T>G (p.Cys2483Gly) rs1555394391
NM_000138.5(FBN1):c.7448G>A (p.Cys2483Tyr) rs1555394390
NM_000138.5(FBN1):c.7448G>C (p.Cys2483Ser) rs1555394390
NM_000138.5(FBN1):c.7453+10A>C rs2505406395
NM_000138.5(FBN1):c.7453+13T>C
NM_000138.5(FBN1):c.7453+16C>A rs2505406371
NM_000138.5(FBN1):c.7453+1G>T rs397515851
NM_000138.5(FBN1):c.7453+1del rs2042970813
NM_000138.5(FBN1):c.7453+2T>G rs2505406414
NM_000138.5(FBN1):c.7454-10T>C rs773080436
NM_000138.5(FBN1):c.7454-13C>G rs2505399970
NM_000138.5(FBN1):c.7454-17C>T rs2505399977
NM_000138.5(FBN1):c.7454-1G>C rs2141222615
NM_000138.5(FBN1):c.7454-1G>T rs2141222615
NM_000138.5(FBN1):c.7454-2A>G rs2042947959
NM_000138.5(FBN1):c.7454-4G>T rs1365010331
NM_000138.5(FBN1):c.7454-6T>A
NM_000138.5(FBN1):c.7454-8T>G
NM_000138.5(FBN1):c.7454A>G (p.Asp2485Gly) rs1085307921
NM_000138.5(FBN1):c.7455_7821del
NM_000138.5(FBN1):c.7459G>T (p.Asp2487Tyr)
NM_000138.5(FBN1):c.7460A>G (p.Asp2487Gly) rs2505399901
NM_000138.5(FBN1):c.7463A>C (p.Glu2488Ala) rs2505399894
NM_000138.5(FBN1):c.7463A>G (p.Glu2488Gly) rs2505399894
NM_000138.5(FBN1):c.7464G>A (p.Glu2488=) rs1597513869
NM_000138.5(FBN1):c.7465T>A (p.Cys2489Ser) rs1057520728
NM_000138.5(FBN1):c.7465T>G (p.Cys2489Gly) rs1057520728
NM_000138.5(FBN1):c.7466G>A (p.Cys2489Tyr) rs1060501077
NM_000138.5(FBN1):c.7473_7480del (p.Lys2492fs) rs2042947612
NM_000138.5(FBN1):c.7475A>G (p.Lys2492Arg) rs1415885269
NM_000138.5(FBN1):c.7476G>A (p.Lys2492=) rs2141222576
NM_000138.5(FBN1):c.7476G>C (p.Lys2492Asn)
NM_000138.5(FBN1):c.7477C>T (p.Gln2493Ter) rs2042947671
NM_000138.5(FBN1):c.7478_7488del (p.Gln2493fs) rs2505399779
NM_000138.5(FBN1):c.7480C>T (p.His2494Tyr) rs2505399823
NM_000138.5(FBN1):c.7486T>A (p.Cys2496Ser) rs1555394246
NM_000138.5(FBN1):c.7487G>T (p.Cys2496Phe) rs1555394245
NM_000138.5(FBN1):c.748_749insCC (p.Cys250fs) rs2043996054
NM_000138.5(FBN1):c.7490A>C (p.Gln2497Pro) rs2042947403
NM_000138.5(FBN1):c.7491G>A (p.Gln2497=) rs775174057
NM_000138.5(FBN1):c.7492T>G (p.Phe2498Val) rs2505399741
NM_000138.5(FBN1):c.7496T>A (p.Leu2499Gln)
NM_000138.5(FBN1):c.7496T>C (p.Leu2499Pro) rs2505399734
NM_000138.5(FBN1):c.7497_7498del (p.Cys2500_Val2501insTer) rs397515852
NM_000138.5(FBN1):c.7498T>A (p.Cys2500Ser) rs363810
NM_000138.5(FBN1):c.7498T>C (p.Cys2500Arg) rs363810
NM_000138.5(FBN1):c.7498_7504del (p.Cys2500fs) rs2141222500
NM_000138.5(FBN1):c.7499G>A (p.Cys2500Tyr) rs794728160
NM_000138.5(FBN1):c.7502_7508dup (p.Thr2503_Ile2504insTer) rs2141222494
NM_000138.5(FBN1):c.7503T>G (p.Val2501=) rs377720966
NM_000138.5(FBN1):c.7505A>T (p.Asn2502Ile) rs1555394243
NM_000138.5(FBN1):c.7508C>T (p.Thr2503Ile) rs749654334
NM_000138.5(FBN1):c.750C>A (p.Cys250Ter)
NM_000138.5(FBN1):c.750C>T (p.Cys250=) rs2505655615
NM_000138.5(FBN1):c.7510A>T (p.Ile2504Phe) rs1223532755
NM_000138.5(FBN1):c.7514G>A (p.Gly2505Asp) rs2505399627
NM_000138.5(FBN1):c.7515C>T (p.Gly2505=) rs374570475
NM_000138.5(FBN1):c.7518C>A (p.Gly2506=)
NM_000138.5(FBN1):c.7520T>G (p.Phe2507Cys) rs2505399578
NM_000138.5(FBN1):c.7524A>T (p.Thr2508=) rs201992942
NM_000138.5(FBN1):c.7525T>A (p.Cys2509Ser) rs1060501055
NM_000138.5(FBN1):c.7525T>C (p.Cys2509Arg)
NM_000138.5(FBN1):c.7525T>G (p.Cys2509Gly) rs1060501055
NM_000138.5(FBN1):c.7526G>A (p.Cys2509Tyr) rs2505399550
NM_000138.5(FBN1):c.7527C>A (p.Cys2509Ter) rs2141222456
NM_000138.5(FBN1):c.7529A>C (p.Lys2510Thr) rs767602851
NM_000138.5(FBN1):c.7531T>C (p.Cys2511Arg) rs794728272
NM_000138.5(FBN1):c.7532G>A (p.Cys2511Tyr) rs1555394238
NM_000138.5(FBN1):c.7533T>G (p.Cys2511Trp) rs750331217
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg) rs363811
NM_000138.5(FBN1):c.7540G>T (p.Gly2514Ter) rs363811
NM_000138.5(FBN1):c.7541G>A (p.Gly2514Glu) rs2505399457
NM_000138.5(FBN1):c.7549C>T (p.Gln2517Ter) rs1566891808
NM_000138.5(FBN1):c.754dup (p.Ala252fs) rs2043995981
NM_000138.5(FBN1):c.7554C>A (p.His2518Gln) rs2042946233
NM_000138.5(FBN1):c.7558_7568del (p.His2519_Thr2520insTer) rs2141222379
NM_000138.5(FBN1):c.7559del (p.Thr2520fs) rs1597513708
NM_000138.5(FBN1):c.755_762del (p.Ala252fs) rs2043995821
NM_000138.5(FBN1):c.7563C>G (p.Ser2521=) rs2505399383
NM_000138.5(FBN1):c.7563_7570delinsGTTGGA (p.Cys2522fs) rs2042946001
NM_000138.5(FBN1):c.7566C>A (p.Cys2522Ter) rs1555394235
NM_000138.5(FBN1):c.7570+11G>C rs774781243
NM_000138.5(FBN1):c.7570+13G>A
NM_000138.5(FBN1):c.7570+20A>G rs1323030606
NM_000138.5(FBN1):c.7570+2T>G
NM_000138.5(FBN1):c.7570+3G>A rs771716341
NM_000138.5(FBN1):c.7570+5G>A rs1566891797
NM_000138.5(FBN1):c.7570G>C (p.Asp2524His) rs2042945976
NM_000138.5(FBN1):c.7571-116_8052-1060del
NM_000138.5(FBN1):c.7571-13C>G rs752468560
NM_000138.5(FBN1):c.7571-15C>A
NM_000138.5(FBN1):c.7571-17C>G
NM_000138.5(FBN1):c.7571-19C>G
NM_000138.5(FBN1):c.7571-1G>A rs1566891706
NM_000138.5(FBN1):c.7571A>G (p.Asp2524Gly)
NM_000138.5(FBN1):c.7574del (p.Asn2525fs) rs1555394220
NM_000138.5(FBN1):c.7577A>G (p.Asn2526Ser) rs794728336
NM_000138.5(FBN1):c.7577del (p.Asn2526fs) rs1555394218
NM_000138.5(FBN1):c.7579G>C (p.Glu2527Gln) rs2141222003
NM_000138.5(FBN1):c.7580A>C (p.Glu2527Ala) rs397515853
NM_000138.5(FBN1):c.7581A>G (p.Glu2527=) rs2141221997
NM_000138.5(FBN1):c.7582T>G (p.Cys2528Gly) rs1566891701
NM_000138.5(FBN1):c.7583G>C (p.Cys2528Ser) rs2141221984
NM_000138.5(FBN1):c.7584C>A (p.Cys2528Ter) rs1303268147
NM_000138.5(FBN1):c.7586C>A (p.Thr2529Asn) rs2505398218
NM_000138.5(FBN1):c.7596del (p.Asn2533fs)
NM_000138.5(FBN1):c.7599T>A (p.Asn2533Lys) rs763537015
NM_000138.5(FBN1):c.7599T>C (p.Asn2533=)
NM_000138.5(FBN1):c.7603T>C (p.Cys2535Arg) rs1555394212
NM_000138.5(FBN1):c.7603T>G (p.Cys2535Gly) rs1555394212
NM_000138.5(FBN1):c.7604G>A (p.Cys2535Tyr) rs1555394210
NM_000138.5(FBN1):c.7604_7605delinsTG (p.Cys2535Leu) rs2505398111
NM_000138.5(FBN1):c.7605C>A (p.Cys2535Ter) rs113544411
NM_000138.5(FBN1):c.7605C>G (p.Cys2535Trp) rs113544411
NM_000138.5(FBN1):c.7606G>A (p.Gly2536Arg) rs397515854
NM_000138.5(FBN1):c.7608G>A (p.Gly2536=) rs748505745
NM_000138.5(FBN1):c.7608dup (p.Ser2537fs) rs1555394206
NM_000138.5(FBN1):c.760C>G (p.Pro254Ala) rs2141353825
NM_000138.5(FBN1):c.7610C>G (p.Ser2537Cys) rs2141221930
NM_000138.5(FBN1):c.7610del (p.Ser2537fs) rs2141221934
NM_000138.5(FBN1):c.7617del (p.Ile2540fs) rs2141221916
NM_000138.5(FBN1):c.7621del (p.Cys2541fs) rs2042942749
NM_000138.5(FBN1):c.7622G>A (p.Cys2541Tyr) rs2505398008
NM_000138.5(FBN1):c.7624C>T (p.Gln2542Ter) rs794728276
NM_000138.5(FBN1):c.7627A>C (p.Asn2543His) rs2505397981
NM_000138.5(FBN1):c.762del (p.Leu256fs) rs1064793559
NM_000138.5(FBN1):c.762dup (p.Gly255fs) rs1064793559
NM_000138.5(FBN1):c.7630A>C (p.Thr2544Pro)
NM_000138.5(FBN1):c.7630A>G (p.Thr2544Ala) rs2042942666
NM_000138.5(FBN1):c.7630del (p.Thr2544fs) rs2533171057
NM_000138.5(FBN1):c.7633C>T (p.Pro2545Ser) rs2141221883
NM_000138.5(FBN1):c.7636G>A (p.Gly2546Arg) rs2042942573
NM_000138.5(FBN1):c.7637G>A (p.Gly2546Glu) rs2141221873
NM_000138.5(FBN1):c.763G>T (p.Gly255Trp) rs781113082
NM_000138.5(FBN1):c.7641C>G (p.Ser2547Arg) rs1555394198
NM_000138.5(FBN1):c.7642T>C (p.Phe2548Leu) rs2141221864
NM_000138.5(FBN1):c.7643T>A (p.Phe2548Tyr) rs2505397920
NM_000138.5(FBN1):c.7643del (p.Phe2548fs) rs1555394197
NM_000138.5(FBN1):c.7645A>C (p.Thr2549Pro)
NM_000138.5(FBN1):c.7646C>T (p.Thr2549Ile) rs2042942480
NM_000138.5(FBN1):c.7648T>A (p.Cys2550Ser) rs1566891675
NM_000138.5(FBN1):c.7649G>A (p.Cys2550Tyr) rs1555394196
NM_000138.5(FBN1):c.7650_7651insA (p.Glu2551fs) rs1060501042
NM_000138.5(FBN1):c.7650_7655del (p.Glu2551_Cys2552del)
NM_000138.5(FBN1):c.7654T>C (p.Cys2552Arg) rs1566891668
NM_000138.5(FBN1):c.7655G>T (p.Cys2552Phe) rs113334360
NM_000138.5(FBN1):c.7655_7656del (p.Cys2552fs) rs1597513323
NM_000138.5(FBN1):c.7655_7656delinsAA (p.Cys2552Ter) rs1597513319
NM_000138.5(FBN1):c.7656C>A (p.Cys2552Ter) rs1555394195
NM_000138.5(FBN1):c.7658A>G (p.Gln2553Arg)
NM_000138.5(FBN1):c.7658A>T (p.Gln2553Leu) rs2505397841
NM_000138.5(FBN1):c.7663G>A (p.Gly2555Arg) rs1566891655
NM_000138.5(FBN1):c.7664G>T (p.Gly2555Val) rs1566891654
NM_000138.5(FBN1):c.7665A>G (p.Gly2555=) rs1597513298
NM_000138.5(FBN1):c.7666T>G (p.Phe2556Val) rs193922234
NM_000138.5(FBN1):c.7668C>T (p.Phe2556=) rs2141221791
NM_000138.5(FBN1):c.7675G>A (p.Asp2559Asn) rs2505397733
NM_000138.5(FBN1):c.7676_7677del (p.Asp2559fs) rs2141221768
NM_000138.5(FBN1):c.7678C>T (p.Gln2560Ter) rs2042941719
NM_000138.5(FBN1):c.7678del (p.Gln2560fs) rs193922235
NM_000138.5(FBN1):c.7680G>A (p.Gln2560=)
NM_000138.5(FBN1):c.7688C>G (p.Ser2563Cys) rs2042941564
NM_000138.5(FBN1):c.7688C>T (p.Ser2563Phe)
NM_000138.5(FBN1):c.768C>G (p.Leu256=)
NM_000138.5(FBN1):c.7693T>C (p.Cys2565Arg) rs2505397585
NM_000138.5(FBN1):c.7693del (p.Cys2565fs) rs2141221743
NM_000138.5(FBN1):c.7694G>A (p.Cys2565Tyr) rs1566891645
NM_000138.5(FBN1):c.7696G>T (p.Glu2566Ter) rs2141221739
NM_000138.5(FBN1):c.7697A>C (p.Glu2566Ala) rs2042941498
NM_000138.5(FBN1):c.7699+11_7699+23del
NM_000138.5(FBN1):c.7699+15C>T rs1280521883
NM_000138.5(FBN1):c.7699+18C>T rs753819758
NM_000138.5(FBN1):c.7699+1G>A rs1555394189
NM_000138.5(FBN1):c.7699+1G>T
NM_000138.5(FBN1):c.7699+20G>A rs2505397484
NM_000138.5(FBN1):c.7699+2T>C rs112991916
NM_000138.5(FBN1):c.7699+4G>T
NM_000138.5(FBN1):c.7699+5G>A rs1555394187
NM_000138.5(FBN1):c.7699G>A (p.Asp2567Asn) rs2505397565
NM_000138.5(FBN1):c.769dup (p.Cys257fs) rs2505655528
NM_000138.5(FBN1):c.7700-10T>G rs2505395487
NM_000138.5(FBN1):c.7700-4T>G rs2505395462
NM_000138.5(FBN1):c.7700-7T>C rs2505395464
NM_000138.5(FBN1):c.7700-9C>G rs772261791
NM_000138.5(FBN1):c.7700-9C>T rs772261791
NM_000138.5(FBN1):c.7700_7706del (p.Asp2567fs) rs2141220862
NM_000138.5(FBN1):c.7702G>T (p.Val2568Leu)
NM_000138.5(FBN1):c.7704G>T (p.Val2568=) rs1316615251
NM_000138.5(FBN1):c.7706A>C (p.Asp2569Ala) rs2141220859
NM_000138.5(FBN1):c.7706A>G (p.Asp2569Gly) rs2141220859
NM_000138.5(FBN1):c.7706del (p.Asp2569fs) rs2505395413
NM_000138.5(FBN1):c.7708G>A (p.Glu2570Lys) rs886038786
NM_000138.5(FBN1):c.7710G>A (p.Glu2570=) rs748055037
NM_000138.5(FBN1):c.7710_7712del (p.Glu2570_Cys2571delinsAsp) rs2505395364
NM_000138.5(FBN1):c.7711T>C (p.Cys2571Arg) rs2042934926
NM_000138.5(FBN1):c.7712G>A (p.Cys2571Tyr) rs1555394153
NM_000138.5(FBN1):c.7712G>T (p.Cys2571Phe) rs1555394153
NM_000138.5(FBN1):c.7713_7730del (p.Glu2572_Cys2577del) rs2141220791
NM_000138.5(FBN1):c.7714G>A (p.Glu2572Lys) rs2141220835
NM_000138.5(FBN1):c.7714G>T (p.Glu2572Ter) rs2141220835
NM_000138.5(FBN1):c.7716_7720dup (p.Asn2574fs)
NM_000138.5(FBN1):c.7718G>A (p.Gly2573Asp) rs2505395321
NM_000138.5(FBN1):c.7719del (p.Asn2574fs) rs1555394152
NM_000138.5(FBN1):c.7725C>T (p.His2575=)
NM_000138.5(FBN1):c.7726C>T (p.Arg2576Cys) rs147195031
NM_000138.5(FBN1):c.7728C>G (p.Arg2576=) rs751226629
NM_000138.5(FBN1):c.7728C>T (p.Arg2576=) rs751226629
NM_000138.5(FBN1):c.7729dup (p.Cys2577fs) rs1555394151
NM_000138.5(FBN1):c.772C>T (p.Gln258Ter) rs146348130
NM_000138.5(FBN1):c.7732C>A (p.Gln2578Lys) rs765942432
NM_000138.5(FBN1):c.7735_7746dup (p.His2579_Gln2582dup) rs2141220752
NM_000138.5(FBN1):c.7735del (p.His2579fs) rs1566891454
NM_000138.5(FBN1):c.7735dup (p.His2579fs) rs2505395185
NM_000138.5(FBN1):c.7736A>C (p.His2579Pro) rs1597512706
NM_000138.5(FBN1):c.7737T>G (p.His2579Gln) rs553053319
NM_000138.5(FBN1):c.7739G>A (p.Gly2580Asp) rs749912176
NM_000138.5(FBN1):c.7739G>C (p.Gly2580Ala)
NM_000138.5(FBN1):c.7742G>A (p.Cys2581Tyr) rs1555394149
NM_000138.5(FBN1):c.7742G>C (p.Cys2581Ser) rs1555394149
NM_000138.5(FBN1):c.7746G>A (p.Gln2582=) rs1555394148
NM_000138.5(FBN1):c.7748A>G (p.Asn2583Ser) rs2042934435
NM_000138.5(FBN1):c.7752C>G (p.Ile2584Met) rs2042934389
NM_000138.5(FBN1):c.7754T>A (p.Ile2585Asn) rs727503054
NM_000138.5(FBN1):c.7758G>A (p.Gly2586=)
NM_000138.5(FBN1):c.7759G>A (p.Gly2587Ser) rs2042934369
NM_000138.5(FBN1):c.7760del (p.Gly2587fs) rs1597512677
NM_000138.5(FBN1):c.7763A>G (p.Tyr2588Cys) rs1566891436
NM_000138.5(FBN1):c.7765A>G (p.Arg2589Gly) rs111413134
NM_000138.5(FBN1):c.7768T>G (p.Cys2590Gly) rs1597512652
NM_000138.5(FBN1):c.7769G>A (p.Cys2590Tyr) rs869025416
NM_000138.5(FBN1):c.776G>T (p.Gly259Val) rs751169871
NM_000138.5(FBN1):c.7770C>G (p.Cys2590Trp) rs1064796667
NM_000138.5(FBN1):c.7775G>A (p.Cys2592Tyr) rs112118237
NM_000138.5(FBN1):c.7775G>T (p.Cys2592Phe) rs112118237
NM_000138.5(FBN1):c.7776C>T (p.Cys2592=) rs886042134
NM_000138.5(FBN1):c.7776_7819+37delinsTAGCT rs2141220506
NM_000138.5(FBN1):c.7779C>G (p.Pro2593=) rs1321568765
NM_000138.5(FBN1):c.777_801del (p.Gly260fs) rs2043994986
NM_000138.5(FBN1):c.7780C>T (p.Gln2594Ter) rs1555394144
NM_000138.5(FBN1):c.7780del (p.Gln2594fs) rs1555394146
NM_000138.5(FBN1):c.7784G>A (p.Gly2595Asp) rs397515857
NM_000138.5(FBN1):c.7785del (p.Tyr2596fs) rs1566891406
NM_000138.5(FBN1):c.7786_7792del (p.Tyr2596fs) rs2141220647
NM_000138.5(FBN1):c.7787A>G (p.Tyr2596Cys) rs1566891404
NM_000138.5(FBN1):c.7788C>A (p.Tyr2596Ter) rs1555394142
NM_000138.5(FBN1):c.778G>A (p.Gly260Arg) rs2043995400
NM_000138.5(FBN1):c.7791C>G (p.Leu2597=) rs2505394927
NM_000138.5(FBN1):c.7793A>C (p.Gln2598Pro) rs2505394912
NM_000138.5(FBN1):c.7797C>G (p.His2599Gln) rs1459178505
NM_000138.5(FBN1):c.7799A>G (p.Tyr2600Cys) rs2141220639
NM_000138.5(FBN1):c.7800C>G (p.Tyr2600Ter) rs1404133653
NM_000138.5(FBN1):c.7800C>T (p.Tyr2600=) rs1404133653
NM_000138.5(FBN1):c.7801C>T (p.Gln2601Ter) rs1597512600
NM_000138.5(FBN1):c.7802A>G (p.Gln2601Arg) rs1455161701
NM_000138.5(FBN1):c.7806G>A (p.Trp2602Ter) rs193922236
NM_000138.5(FBN1):c.7806G>C (p.Trp2602Cys) rs193922236
NM_000138.5(FBN1):c.7808_7809del (p.Asn2603fs) rs2141220616
NM_000138.5(FBN1):c.7810C>T (p.Gln2604Ter) rs111496285
NM_000138.5(FBN1):c.7812G>C (p.Gln2604His) rs2141220609
NM_000138.5(FBN1):c.7813dup (p.Cys2605fs) rs1555394138
NM_000138.5(FBN1):c.7817T>A (p.Val2606Asp) rs2141220600
NM_000138.5(FBN1):c.7817_7819del (p.Val2606del) rs1555394136
NM_000138.5(FBN1):c.7819+13T>C
NM_000138.5(FBN1):c.7819+13del rs753639266
NM_000138.5(FBN1):c.7819+1G>A rs112907302
NM_000138.5(FBN1):c.7819+1G>T rs112907302
NM_000138.5(FBN1):c.7819+3A>C rs1555394135
NM_000138.5(FBN1):c.7819+4A>G rs794728278
NM_000138.5(FBN1):c.7819+5G>A rs2141220566
NM_000138.5(FBN1):c.7819+5G>T rs2141220566
NM_000138.5(FBN1):c.7819G>A (p.Asp2607Asn) rs1597512576
NM_000138.5(FBN1):c.7819G>T (p.Asp2607Tyr) rs1597512576
NM_000138.5(FBN1):c.7820-11T>C rs781635251
NM_000138.5(FBN1):c.7820-17T>A rs2505384716
NM_000138.5(FBN1):c.7820-1G>C rs1597509836
NM_000138.5(FBN1):c.7820-2034A>G
NM_000138.5(FBN1):c.7820-20G>A
NM_000138.5(FBN1):c.7820-3C>G rs193922237
NM_000138.5(FBN1):c.7820A>G (p.Asp2607Gly) rs2505384578
NM_000138.5(FBN1):c.7820A>T (p.Asp2607Val)
NM_000138.5(FBN1):c.7822G>T (p.Glu2608Ter) rs1566890005
NM_000138.5(FBN1):c.7825A>G (p.Asn2609Asp) rs2505384563
NM_000138.5(FBN1):c.7828G>A (p.Glu2610Lys) rs111984349
NM_000138.5(FBN1):c.7829A>T (p.Glu2610Val) rs1555393889
NM_000138.5(FBN1):c.7830A>T (p.Glu2610Asp) rs1597509823
NM_000138.5(FBN1):c.7832G>A (p.Cys2611Tyr) rs794728337
NM_000138.5(FBN1):c.7840G>A (p.Ala2614Thr) rs1280320763
NM_000138.5(FBN1):c.7840G>C (p.Ala2614Pro) rs1280320763
NM_000138.5(FBN1):c.7840del (p.Ala2614fs) rs2505384396
NM_000138.5(FBN1):c.7841C>G (p.Ala2614Gly) rs2505384369
NM_000138.5(FBN1):c.7842T>A (p.Ala2614=) rs764496589
NM_000138.5(FBN1):c.7843C>G (p.His2615Asp) rs2042899271
NM_000138.5(FBN1):c.7847T>A (p.Ile2616Asn)
NM_000138.5(FBN1):c.7850G>A (p.Cys2617Tyr) rs1555393886
NM_000138.5(FBN1):c.7851C>A (p.Cys2617Ter) rs147019323
NM_000138.5(FBN1):c.7852G>T (p.Gly2618Ter) rs141133182
NM_000138.5(FBN1):c.7858G>A (p.Ala2620Thr)
NM_000138.5(FBN1):c.7863C>T (p.Ser2621=) rs1342441428
NM_000138.5(FBN1):c.7864T>A (p.Cys2622Ser) rs1555393882
NM_000138.5(FBN1):c.7864T>C (p.Cys2622Arg) rs1555393882
NM_000138.5(FBN1):c.7865G>C (p.Cys2622Ser) rs1555393880
NM_000138.5(FBN1):c.7865G>T (p.Cys2622Phe) rs1555393880
NM_000138.5(FBN1):c.7867C>G (p.His2623Asp) rs2505384072
NM_000138.5(FBN1):c.7868A>T (p.His2623Leu) rs2505384061
NM_000138.5(FBN1):c.786C>T (p.Cys262=) rs1597591684
NM_000138.5(FBN1):c.7871A>G (p.Asn2624Ser) rs113935744
NM_000138.5(FBN1):c.7876C>G (p.Leu2626Val) rs2042898824
NM_000138.5(FBN1):c.7877T>A (p.Leu2626Gln) rs794728338
NM_000138.5(FBN1):c.7879G>A (p.Gly2627Arg) rs193922239
NM_000138.5(FBN1):c.7879G>C (p.Gly2627Arg) rs193922239
NM_000138.5(FBN1):c.787A>G (p.Ile263Val) rs876657811
NM_000138.5(FBN1):c.7880G>A (p.Gly2627Glu) rs1555393875
NM_000138.5(FBN1):c.7880G>C (p.Gly2627Ala) rs1555393875
NM_000138.5(FBN1):c.7880G>T (p.Gly2627Val) rs1555393875
NM_000138.5(FBN1):c.7881dup (p.Ser2628fs) rs1060501067
NM_000138.5(FBN1):c.7883G>A (p.Ser2628Asn) rs2505383897
NM_000138.5(FBN1):c.7886A>G (p.Tyr2629Cys) rs2505383886
NM_000138.5(FBN1):c.7892G>A (p.Cys2631Tyr) rs111856492
NM_000138.5(FBN1):c.7892G>T (p.Cys2631Phe) rs111856492
NM_000138.5(FBN1):c.7895T>C (p.Met2632Thr) rs776686839
NM_000138.5(FBN1):c.7897T>C (p.Cys2633Arg) rs1555393871
NM_000138.5(FBN1):c.7897T>G (p.Cys2633Gly) rs1555393871
NM_000138.5(FBN1):c.7898G>C (p.Cys2633Ser) rs193922240
NM_000138.5(FBN1):c.7898G>T (p.Cys2633Phe)
NM_000138.5(FBN1):c.789T>C (p.Ile263=) rs2141353743
NM_000138.5(FBN1):c.7903G>T (p.Ala2635Ser)
NM_000138.5(FBN1):c.7907del (p.Gly2636fs) rs2141214897
NM_000138.5(FBN1):c.7912C>T (p.Gln2638Ter) rs2141214889
NM_000138.5(FBN1):c.7914G>T (p.Gln2638His) rs1597509725
NM_000138.5(FBN1):c.7921C>T (p.Gln2641Ter) rs1555393866
NM_000138.5(FBN1):c.7931_7937del (p.Gly2644fs) rs1555393862
NM_000138.5(FBN1):c.7936T>A (p.Cys2646Ser) rs1555393863
NM_000138.5(FBN1):c.7936T>C (p.Cys2646Arg) rs1555393863
NM_000138.5(FBN1):c.7937G>A (p.Cys2646Tyr) rs1597509701
NM_000138.5(FBN1):c.7944C>T (p.Asp2648=)
NM_000138.5(FBN1):c.7951G>T (p.Glu2651Ter) rs1555393859
NM_000138.5(FBN1):c.7954T>A (p.Cys2652Ser) rs1555393858
NM_000138.5(FBN1):c.7954T>C (p.Cys2652Arg) rs1555393858
NM_000138.5(FBN1):c.7955G>A (p.Cys2652Tyr) rs397515859
NM_000138.5(FBN1):c.7959del (p.Ser2654fs) rs1597509674
NM_000138.5(FBN1):c.795del (p.Val266fs) rs2141353727
NM_000138.5(FBN1):c.7962T>C (p.Ser2654=) rs2505383197
NM_000138.5(FBN1):c.7965G>T (p.Ala2655=) rs199887650
NM_000138.5(FBN1):c.7966C>T (p.Gln2656Ter) rs2141214772
NM_000138.5(FBN1):c.7969G>T (p.Ala2657Ser)
NM_000138.5(FBN1):c.796G>T (p.Val266Phe) rs201669595
NM_000138.5(FBN1):c.796_810del (p.Val266_Glu270del) rs2505655396
NM_000138.5(FBN1):c.7972C>G (p.Pro2658Ala) rs1555393851
NM_000138.5(FBN1):c.7972C>T (p.Pro2658Ser)
NM_000138.5(FBN1):c.7974del (p.Cys2659fs) rs1555393848
NM_000138.5(FBN1):c.7974dup (p.Cys2659fs) rs1555393848
NM_000138.5(FBN1):c.7975T>G (p.Cys2659Gly) rs1555393847
NM_000138.5(FBN1):c.7976_7977delinsTT (p.Cys2659Phe) rs2505383004
NM_000138.5(FBN1):c.7977C>A (p.Cys2659Ter) rs1555393844
NM_000138.5(FBN1):c.7979G>A (p.Ser2660Asn) rs2141214726
NM_000138.5(FBN1):c.7980C>G (p.Ser2660Arg) rs1060501030
NM_000138.5(FBN1):c.7981T>G (p.Tyr2661Asp)
NM_000138.5(FBN1):c.7982A>G (p.Tyr2661Cys) rs112196241
NM_000138.5(FBN1):c.7983T>A (p.Tyr2661Ter) rs2141214712
NM_000138.5(FBN1):c.7985del (p.Gly2662fs)
NM_000138.5(FBN1):c.7987T>C (p.Cys2663Arg) rs1566889870
NM_000138.5(FBN1):c.7987_8004del (p.Cys2663_Gly2668del) rs1597509607
NM_000138.5(FBN1):c.7988G>A (p.Cys2663Tyr) rs1597509631
NM_000138.5(FBN1):c.7988G>C (p.Cys2663Ser) rs1597509631
NM_000138.5(FBN1):c.7988G>T (p.Cys2663Phe) rs1597509631
NM_000138.5(FBN1):c.7991C>G (p.Ser2664Cys) rs2042896586
NM_000138.5(FBN1):c.7991C>T (p.Ser2664Phe) rs2042896586
NM_000138.5(FBN1):c.7994A>G (p.Asn2665Ser) rs763173031
NM_000138.5(FBN1):c.7999G>T (p.Glu2667Ter) rs149062442
NM_000138.5(FBN1):c.799G>C (p.Gly267Arg) rs2141353715
NM_000138.5(FBN1):c.799_805del (p.Gly267fs) rs1060501100
NM_000138.5(FBN1):c.7C>T (p.Arg3Ter) rs886038797
NM_000138.5(FBN1):c.8002G>A (p.Gly2668Ser)
NM_000138.5(FBN1):c.8002G>T (p.Gly2668Cys) rs1057521100
NM_000138.5(FBN1):c.8005G>A (p.Gly2669Ser) rs794728281
NM_000138.5(FBN1):c.8005G>T (p.Gly2669Cys) rs794728281
NM_000138.5(FBN1):c.8006G>T (p.Gly2669Val) rs886038869
NM_000138.5(FBN1):c.8008_8009insCACCCTCGGTAACCTGTGTGGTAATA (p.Tyr2670fs) rs2141214637
NM_000138.5(FBN1):c.8009A>G (p.Tyr2670Cys) rs794728339
NM_000138.5(FBN1):c.8009A>T (p.Tyr2670Phe) rs794728339
NM_000138.5(FBN1):c.8009del (p.Tyr2670fs) rs2141214634
NM_000138.5(FBN1):c.8011C>T (p.Leu2671=) rs886051244
NM_000138.5(FBN1):c.8011_8012del (p.Leu2671fs) rs2141214616
NM_000138.5(FBN1):c.8012T>C (p.Leu2671Pro) rs2141214610
NM_000138.5(FBN1):c.8014T>C (p.Cys2672Arg) rs1555393833
NM_000138.5(FBN1):c.8014T>G (p.Cys2672Gly) rs1555393833
NM_000138.5(FBN1):c.8015G>A (p.Cys2672Tyr) rs1555393831
NM_000138.5(FBN1):c.8015G>C (p.Cys2672Ser) rs1555393831
NM_000138.5(FBN1):c.8015G>T (p.Cys2672Phe) rs1555393831
NM_000138.5(FBN1):c.8016_8017insAG (p.Gly2673fs) rs2141214595
NM_000138.5(FBN1):c.801del (p.Ser268fs) rs1060501050
NM_000138.5(FBN1):c.8020T>A (p.Cys2674Ser)
NM_000138.5(FBN1):c.8020T>C (p.Cys2674Arg) rs1060501014
NM_000138.5(FBN1):c.8021G>A (p.Cys2674Tyr) rs1555393827
NM_000138.5(FBN1):c.8027C>G (p.Pro2676Arg)
NM_000138.5(FBN1):c.8029G>T (p.Gly2677Cys)
NM_000138.5(FBN1):c.8029_8030insACAGTAACCACCTG (p.Gly2677fs) rs2505382548
NM_000138.5(FBN1):c.802T>C (p.Ser268Pro) rs2505655429
NM_000138.5(FBN1):c.802T>G (p.Ser268Ala) rs2505655429
NM_000138.5(FBN1):c.8030G>T (p.Gly2677Val)
NM_000138.5(FBN1):c.8032dup (p.Tyr2678fs) rs2042895751
NM_000138.5(FBN1):c.8033A>G (p.Tyr2678Cys) rs2505382513
NM_000138.5(FBN1):c.8034C>T (p.Tyr2678=) rs1597509559
NM_000138.5(FBN1):c.8037C>G (p.Phe2679Leu) rs770541711
NM_000138.5(FBN1):c.8038C>T (p.Arg2680Cys) rs794728283
NM_000138.5(FBN1):c.8040dup (p.Ile2681fs) rs2505382464
NM_000138.5(FBN1):c.8041A>G (p.Ile2681Val) rs2505382444
NM_000138.5(FBN1):c.8042T>G (p.Ile2681Arg) rs1555393825
NM_000138.5(FBN1):c.8047C>T (p.Gln2683Ter) rs2141214520
NM_000138.5(FBN1):c.8051+10G>A
NM_000138.5(FBN1):c.8051+10G>T rs1007432990
NM_000138.5(FBN1):c.8051+13C>T
NM_000138.5(FBN1):c.8051+18T>C rs2505382278
NM_000138.5(FBN1):c.8051+1G>A rs2141214507
NM_000138.5(FBN1):c.8051+2T>A rs2141214505
NM_000138.5(FBN1):c.8051+375G>T rs1060501062
NM_000138.5(FBN1):c.8051+3_8051+9del rs2141214499
NM_000138.5(FBN1):c.8052-10T>G rs2505376032
NM_000138.5(FBN1):c.8052-14C>A rs373314776
NM_000138.5(FBN1):c.8052-17C>T
NM_000138.5(FBN1):c.8052-1G>A rs2505375967
NM_000138.5(FBN1):c.8052-2A>G rs2505375978
NM_000138.5(FBN1):c.8052-5T>C rs2505376012
NM_000138.5(FBN1):c.8052-6_8052-3del rs2141211838
NM_000138.5(FBN1):c.8052-9C>G
NM_000138.5(FBN1):c.8054A>G (p.His2685Arg) rs1555393666
NM_000138.5(FBN1):c.8056T>C (p.Cys2686Arg) rs1566889188
NM_000138.5(FBN1):c.8057G>A (p.Cys2686Tyr) rs2141211820
NM_000138.5(FBN1):c.8057G>T (p.Cys2686Phe) rs2141211820
NM_000138.5(FBN1):c.8058T>A (p.Cys2686Ter) rs2505375924
NM_000138.5(FBN1):c.8059G>T (p.Val2687Phe) rs1464168530
NM_000138.5(FBN1):c.8059_8060del (p.Val2687fs) rs2042873946
NM_000138.5(FBN1):c.8061T>G (p.Val2687=) rs2505375896
NM_000138.5(FBN1):c.8063C>G (p.Ser2688Cys)
NM_000138.5(FBN1):c.8068A>G (p.Met2690Val)
NM_000138.5(FBN1):c.8069T>A (p.Met2690Lys) rs747476726
NM_000138.5(FBN1):c.8069T>C (p.Met2690Thr) rs747476726
NM_000138.5(FBN1):c.806T>C (p.Phe269Ser) rs951026080
NM_000138.5(FBN1):c.8070G>A (p.Met2690Ile)
NM_000138.5(FBN1):c.8073C>T (p.Gly2691=) rs2505375816
NM_000138.5(FBN1):c.8075T>C (p.Met2692Thr) rs2505375793
NM_000138.5(FBN1):c.807T>A (p.Phe269Leu) rs2505655406
NM_000138.5(FBN1):c.8080C>G (p.Arg2694Gly) rs200309328
NM_000138.5(FBN1):c.8080C>T (p.Arg2694Ter) rs200309328
NM_000138.5(FBN1):c.8080del (p.Arg2694fs) rs2505375770
NM_000138.5(FBN1):c.8081G>A (p.Arg2694Gln) rs371375126
NM_000138.5(FBN1):c.8083G>A (p.Gly2695Arg) rs1555393663
NM_000138.5(FBN1):c.8087del (p.Asn2696fs) rs1060501065
NM_000138.5(FBN1):c.8089C>A (p.Pro2697Thr) rs1483017438
NM_000138.5(FBN1):c.808G>C (p.Glu270Gln) rs2043994842
NM_000138.5(FBN1):c.8090_8099del (p.Pro2697fs) rs2505375669
NM_000138.5(FBN1):c.8092G>T (p.Glu2698Ter) rs1597507783
NM_000138.5(FBN1):c.8094G>A (p.Glu2698=)
NM_000138.5(FBN1):c.8094G>C (p.Glu2698Asp)
NM_000138.5(FBN1):c.8097A>T (p.Pro2699=) rs2505375684
NM_000138.5(FBN1):c.8099C>T (p.Pro2700Leu) rs886038782
NM_000138.5(FBN1):c.8101G>A (p.Val2701Ile) rs753925682
NM_000138.5(FBN1):c.8101_8102del (p.Val2701fs) rs1597507763
NM_000138.5(FBN1):c.8103C>T (p.Val2701=) rs1340105891
NM_000138.5(FBN1):c.8103_8104insT (p.Ser2702Ter) rs2141211736
NM_000138.5(FBN1):c.8108G>T (p.Gly2703Val) rs794728284
NM_000138.5(FBN1):c.8108del (p.Gly2703fs) rs2505375618
NM_000138.5(FBN1):c.810G>A (p.Glu270=) rs2505655392
NM_000138.5(FBN1):c.8114T>C (p.Met2705Thr)
NM_000138.5(FBN1):c.8118del (p.Asp2706fs) rs2141211729
NM_000138.5(FBN1):c.811T>A (p.Cys271Ser) rs1060501019
NM_000138.5(FBN1):c.811T>G (p.Cys271Gly) rs1060501019
NM_000138.5(FBN1):c.8121C>A (p.Asp2707Glu) rs1566889147
NM_000138.5(FBN1):c.8121C>T (p.Asp2707=) rs1566889147
NM_000138.5(FBN1):c.8128C>T (p.Leu2710Phe) rs1342786403
NM_000138.5(FBN1):c.8129T>C (p.Leu2710Pro) rs1297376845
NM_000138.5(FBN1):c.8134C>T (p.Pro2712Ser) rs2505375541
NM_000138.5(FBN1):c.8136A>G (p.Pro2712=) rs2042873097
NM_000138.5(FBN1):c.8137G>A (p.Glu2713Lys) rs2141211697
NM_000138.5(FBN1):c.8138A>G (p.Glu2713Gly) rs1555393658
NM_000138.5(FBN1):c.8139G>A (p.Glu2713=) rs2141211689
NM_000138.5(FBN1):c.8140G>A (p.Ala2714Thr) rs766170041
NM_000138.5(FBN1):c.8140G>C (p.Ala2714Pro) rs766170041
NM_000138.5(FBN1):c.8140del (p.Ala2714fs) rs2505375500
NM_000138.5(FBN1):c.8142T>C (p.Ala2714=)
NM_000138.5(FBN1):c.8143_8144insCTCCCCAGAGGCT (p.Cys2715fs)
NM_000138.5(FBN1):c.8144G>A (p.Cys2715Tyr) rs1597507716
NM_000138.5(FBN1):c.8144G>C (p.Cys2715Ser) rs1597507716
NM_000138.5(FBN1):c.8145T>A (p.Cys2715Ter) rs1597507712
NM_000138.5(FBN1):c.8147dup (p.Tyr2716Ter) rs1555393657
NM_000138.5(FBN1):c.8148C>G (p.Tyr2716Ter) rs112642323
NM_000138.5(FBN1):c.8148C>T (p.Tyr2716=) rs112642323
NM_000138.5(FBN1):c.8148_8149insA (p.Glu2717fs) rs1555393653
NM_000138.5(FBN1):c.8149G>T (p.Glu2717Ter) rs187553035
NM_000138.5(FBN1):c.814delinsTGGACACAATGCCCTGCTGGACACAAACTT (p.Lys272fs) rs1597591643
NM_000138.5(FBN1):c.8152T>G (p.Cys2718Gly)
NM_000138.5(FBN1):c.8154dup (p.Lys2719Ter) rs794728321
NM_000138.5(FBN1):c.8155A>G (p.Lys2719Glu) rs2041165600
NM_000138.5(FBN1):c.8157G>A (p.Lys2719=) rs2042872810
NM_000138.5(FBN1):c.8162A>G (p.Asn2721Ser)
NM_000138.5(FBN1):c.8169C>T (p.Tyr2723=) rs768231402
NM_000138.5(FBN1):c.8173A>T (p.Lys2725Ter) rs1555393652
NM_000138.5(FBN1):c.8176del (p.Arg2726fs) rs2505375328
NM_000138.5(FBN1):c.8180G>A (p.Gly2727Asp) rs2042872481
NM_000138.5(FBN1):c.8181C>T (p.Gly2727=) rs2505375294
NM_000138.5(FBN1):c.8185A>C (p.Lys2729Gln) rs370096856
NM_000138.5(FBN1):c.8188C>T (p.Arg2730Trp) rs1371152380
NM_000138.5(FBN1):c.8195G>A (p.Ser2732Asn) rs2042872305
NM_000138.5(FBN1):c.819C>A (p.Cys273Ter) rs1782110783
NM_000138.5(FBN1):c.819C>T (p.Cys273=) rs1782110783
NM_000138.5(FBN1):c.8203G>C (p.Glu2735Gln) rs756124960
NM_000138.5(FBN1):c.8203del (p.Glu2735fs) rs193922241
NM_000138.5(FBN1):c.8213C>A (p.Ala2738Asp) rs2042871947
NM_000138.5(FBN1):c.8219_8225dup (p.Asp2743fs) rs2505375053
NM_000138.5(FBN1):c.8222T>C (p.Ile2741Thr) rs1409931715
NM_000138.5(FBN1):c.8223C>G (p.Ile2741Met) rs150065311
NM_000138.5(FBN1):c.8226+12G>A rs2141211477
NM_000138.5(FBN1):c.8226+1G>A rs398122833
NM_000138.5(FBN1):c.8226+1G>T rs398122833
NM_000138.5(FBN1):c.8226+5G>A rs193922243
NM_000138.5(FBN1):c.8226+5G>T rs193922243
NM_000138.5(FBN1):c.8226+5del
NM_000138.5(FBN1):c.8226G>A (p.Glu2742=) rs1060501045
NM_000138.5(FBN1):c.8226G>T (p.Glu2742Asp) rs1060501045
NM_000138.5(FBN1):c.8227-12G>A rs750277727
NM_000138.5(FBN1):c.8227-13T>C rs2505372014
NM_000138.5(FBN1):c.8227-15C>G
NM_000138.5(FBN1):c.8227-3del
NM_000138.5(FBN1):c.8227-4C>T rs2505371971
NM_000138.5(FBN1):c.8227-5dup rs2505371986
NM_000138.5(FBN1):c.8227-6T>C rs1198254608
NM_000138.5(FBN1):c.8230C>T (p.Gln2744Ter)
NM_000138.5(FBN1):c.8232G>C (p.Gln2744His) rs376119827
NM_000138.5(FBN1):c.8233T>G (p.Ser2745Ala) rs1265301698
NM_000138.5(FBN1):c.8235T>C (p.Ser2745=) rs2505371928
NM_000138.5(FBN1):c.8235dup (p.Glu2746Ter) rs2141210158
NM_000138.5(FBN1):c.823G>A (p.Ala275Thr) rs1345051744
NM_000138.5(FBN1):c.823G>C (p.Ala275Pro) rs1345051744
NM_000138.5(FBN1):c.8240_8241del (p.Thr2747fs) rs2505371897
NM_000138.5(FBN1):c.8242G>T (p.Glu2748Ter) rs1597506931
NM_000138.5(FBN1):c.8247C>T (p.Ala2749=) rs1555393567
NM_000138.5(FBN1):c.8249A>G (p.Asn2750Ser) rs763816801
NM_000138.5(FBN1):c.8250dup (p.Val2751fs)
NM_000138.5(FBN1):c.8252_8253dup (p.Ser2752Ter) rs1555393565
NM_000138.5(FBN1):c.8255G>A (p.Ser2752Asn) rs2042861973
NM_000138.5(FBN1):c.8256T>C (p.Ser2752=) rs2141210112
NM_000138.5(FBN1):c.8259del (p.Ala2754fs) rs1597506905
NM_000138.5(FBN1):c.8260del (p.Ala2754fs) rs2505371763
NM_000138.5(FBN1):c.8263A>T (p.Ser2755Cys)
NM_000138.5(FBN1):c.8265_8266delinsAGGA (p.Ser2755fs) rs727504651
NM_000138.5(FBN1):c.8267G>A (p.Trp2756Ter) rs397515861
NM_000138.5(FBN1):c.8267G>C (p.Trp2756Ser) rs397515861
NM_000138.5(FBN1):c.8268G>A (p.Trp2756Ter) rs267606796
NM_000138.5(FBN1):c.8270A>G (p.Asp2757Gly) rs1060501088
NM_000138.5(FBN1):c.8270A>T (p.Asp2757Val) rs1060501088
NM_000138.5(FBN1):c.8272G>A (p.Val2758Ile)
NM_000138.5(FBN1):c.8277G>A (p.Glu2759=) rs1597506888
NM_000138.5(FBN1):c.8279A>T (p.Lys2760Met) rs2505371695
NM_000138.5(FBN1):c.827G>A (p.Gly276Glu) rs534859193
NM_000138.5(FBN1):c.8281A>G (p.Thr2761Ala) rs1242744120
NM_000138.5(FBN1):c.8282del (p.Thr2761fs) rs2505371682
NM_000138.5(FBN1):c.8285C>A (p.Ala2762Asp) rs2505371655
NM_000138.5(FBN1):c.8287A>G (p.Ile2763Val) rs775172479
NM_000138.5(FBN1):c.8294C>T (p.Ala2765Val)
NM_000138.5(FBN1):c.8295T>G (p.Ala2765=)
NM_000138.5(FBN1):c.8297del (p.Phe2766fs) rs2505371597
NM_000138.5(FBN1):c.8303T>C (p.Ile2768Thr) rs2505371571
NM_000138.5(FBN1):c.830A>T (p.His277Leu) rs2505655318
NM_000138.5(FBN1):c.8312_8327dup (p.Arg2776_Ile2777insGlnTer) rs2141210000
NM_000138.5(FBN1):c.8312dup (p.Ser2772fs) rs1555393560
NM_000138.5(FBN1):c.8319C>A (p.Asn2773Lys)
NM_000138.5(FBN1):c.831C>A (p.His277Gln) rs2505655309
NM_000138.5(FBN1):c.831del (p.His277fs) rs2043994405
NM_000138.5(FBN1):c.8323G>C (p.Val2775Leu)
NM_000138.5(FBN1):c.8323del (p.Val2775fs) rs2141210009
NM_000138.5(FBN1):c.8327G>T (p.Arg2776Leu)
NM_000138.5(FBN1):c.8329del (p.Ile2777fs) rs1566888689
NM_000138.5(FBN1):c.8330T>A (p.Ile2777Asn) rs1555393556
NM_000138.5(FBN1):c.8330T>C (p.Ile2777Thr) rs1555393556
NM_000138.5(FBN1):c.8333T>G (p.Leu2778Arg) rs1555393553
NM_000138.5(FBN1):c.8335G>T (p.Glu2779Ter) rs1555393551
NM_000138.5(FBN1):c.8336A>C (p.Glu2779Ala) rs2505371440
NM_000138.5(FBN1):c.8337A>C (p.Glu2779Asp) rs2505371430
NM_000138.5(FBN1):c.8338dup (p.Leu2780fs) rs2042860621
NM_000138.5(FBN1):c.8339T>C (p.Leu2780Pro) rs869025417
NM_000138.5(FBN1):c.8340C>G (p.Leu2780=)
NM_000138.5(FBN1):c.8342T>C (p.Leu2781Pro)
NM_000138.5(FBN1):c.8347G>C (p.Ala2783Pro) rs2141209966
NM_000138.5(FBN1):c.8348C>A (p.Ala2783Asp) rs2141209965
NM_000138.5(FBN1):c.8349T>C (p.Ala2783=)
NM_000138.5(FBN1):c.8356A>G (p.Thr2786Ala) rs781352764
NM_000138.5(FBN1):c.8359C>G (p.Leu2787Val) rs2505371351
NM_000138.5(FBN1):c.8363C>G (p.Thr2788Arg) rs143007898
NM_000138.5(FBN1):c.8365A>C (p.Asn2789His) rs2042859991
NM_000138.5(FBN1):c.8369A>G (p.His2790Arg) rs1271078955
NM_000138.5(FBN1):c.8371A>C (p.Asn2791His) rs2505371284
NM_000138.5(FBN1):c.8372A>G (p.Asn2791Ser) rs2505371275
NM_000138.5(FBN1):c.8377T>C (p.Tyr2793His) rs113722038
NM_000138.5(FBN1):c.8378A>G (p.Tyr2793Cys) rs397515863
NM_000138.5(FBN1):c.8379C>T (p.Tyr2793=)
NM_000138.5(FBN1):c.8384T>A (p.Ile2795Asn) rs2042859661
NM_000138.5(FBN1):c.8385C>A (p.Ile2795=) rs138574576
NM_000138.5(FBN1):c.8393G>A (p.Gly2798Glu) rs1060501049
NM_000138.5(FBN1):c.8396del (p.Asn2799fs) rs1555393540
NM_000138.5(FBN1):c.8398dup (p.Glu2800fs) rs2141209879
NM_000138.5(FBN1):c.8402A>G (p.Asp2801Gly) rs2042859370
NM_000138.5(FBN1):c.8405G>A (p.Gly2802Asp) rs770484928
NM_000138.5(FBN1):c.8405G>T (p.Gly2802Val) rs770484928
NM_000138.5(FBN1):c.8409C>G (p.Phe2803Leu) rs2042859268
NM_000138.5(FBN1):c.8412_8417del (p.Lys2805_Ile2806del) rs193922246
NM_000138.5(FBN1):c.8416dup (p.Ile2806fs) rs1555393538
NM_000138.5(FBN1):c.8417T>A (p.Ile2806Asn) rs2141209854
NM_000138.5(FBN1):c.841_842insT (p.Glu281fs) rs886039034
NM_000138.5(FBN1):c.8423A>G (p.Gln2808Arg) rs2505371099
NM_000138.5(FBN1):c.8427G>A (p.Lys2809=) rs2505371081
NM_000138.5(FBN1):c.8428del (p.Glu2810fs) rs1555393535
NM_000138.5(FBN1):c.8432G>A (p.Gly2811Glu) rs2042858918
NM_000138.5(FBN1):c.8435T>C (p.Ile2812Thr) rs2042858844
NM_000138.5(FBN1):c.8437A>T (p.Ser2813Cys) rs2042858812
NM_000138.5(FBN1):c.8438G>A (p.Ser2813Asn) rs2505371038
NM_000138.5(FBN1):c.843A>T (p.Glu281Asp) rs772218768
NM_000138.5(FBN1):c.8442C>A (p.Tyr2814Ter) rs2505371030
NM_000138.5(FBN1):c.8443C>T (p.Leu2815Phe)
NM_000138.5(FBN1):c.8443del (p.Leu2815fs)
NM_000138.5(FBN1):c.8444T>A (p.Leu2815His) rs113170280
NM_000138.5(FBN1):c.8444T>C (p.Leu2815Pro) rs113170280
NM_000138.5(FBN1):c.8447A>C (p.His2816Pro) rs1555393532
NM_000138.5(FBN1):c.8449_8453del (p.Phe2817fs)
NM_000138.5(FBN1):c.8455AAG[2] (p.Lys2821del)
NM_000138.5(FBN1):c.8456dup (p.Lys2820fs) rs2141209783
NM_000138.5(FBN1):c.846G>A (p.Val282=) rs2043994063
NM_000138.5(FBN1):c.8471C>A (p.Ala2824Asp) rs1060501084
NM_000138.5(FBN1):c.8473_8475del (p.Gly2825del) rs727504454
NM_000138.5(FBN1):c.8474G>T (p.Gly2825Val) rs1597506692
NM_000138.5(FBN1):c.8475A>C (p.Gly2825=)
NM_000138.5(FBN1):c.8477C>G (p.Thr2826Ser) rs748384979
NM_000138.5(FBN1):c.8477_8478insATAG (p.Thr2826_Tyr2827insTer) rs2042858025
NM_000138.5(FBN1):c.8478C>G (p.Thr2826=) rs1597506683
NM_000138.5(FBN1):c.8478del (p.Tyr2827fs) rs2505370856
NM_000138.5(FBN1):c.8479del (p.Tyr2827fs) rs1555393525
NM_000138.5(FBN1):c.8480A>C (p.Tyr2827Ser) rs794728287
NM_000138.5(FBN1):c.8483C>A (p.Ser2828Ter) rs397515864
NM_000138.5(FBN1):c.8483C>G (p.Ser2828Ter) rs397515864
NM_000138.5(FBN1):c.8484A>G (p.Ser2828=)
NM_000138.5(FBN1):c.8488C>T (p.Gln2830Ter) rs886038795
NM_000138.5(FBN1):c.8491A>T (p.Ile2831Phe) rs1555393524
NM_000138.5(FBN1):c.8491del (p.Ile2831fs) rs2505370786
NM_000138.5(FBN1):c.8492T>G (p.Ile2831Ser) rs1555393523
NM_000138.5(FBN1):c.8497A>G (p.Ser2833Gly) rs2505370758
NM_000138.5(FBN1):c.8497_8498del (p.Ser2833fs)
NM_000138.5(FBN1):c.8499del (p.Ser2833fs) rs2141209667
NM_000138.5(FBN1):c.849A>G (p.Ser283=) rs2141353586
NM_000138.5(FBN1):c.8500A>G (p.Thr2834Ala) rs1284038548
NM_000138.5(FBN1):c.8501C>T (p.Thr2834Ile) rs2042857660
NM_000138.5(FBN1):c.8506C>T (p.Leu2836Phe) rs982954804
NM_000138.5(FBN1):c.8507T>A (p.Leu2836His) rs2141209638
NM_000138.5(FBN1):c.8510A>G (p.Tyr2837Cys) rs2042857475
NM_000138.5(FBN1):c.8512A>T (p.Lys2838Ter) rs1597506641
NM_000138.5(FBN1):c.8512_8526A[5]GAAAGAACTTGGAGGAGGAGCCAAGATGGCCGAATAGGAACAGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAACTT[1] (p.Asn2843delinsGlyGlyGlyAlaLysMetAlaGluTer) rs2505370594
NM_000138.5(FBN1):c.8516dup (p.Lys2840fs) rs1555393514
NM_000138.5(FBN1):c.8521G>A (p.Glu2841Lys) rs587782948
NM_000138.5(FBN1):c.8521G>T (p.Glu2841Ter) rs587782948
NM_000138.5(FBN1):c.8522A>T (p.Glu2841Val) rs2505370621
NM_000138.5(FBN1):c.8525_8529del (p.Leu2842fs) rs1064794130
NM_000138.5(FBN1):c.8530C>T (p.Gln2844Ter) rs1555393510
NM_000138.5(FBN1):c.8536G>A (p.Glu2846Lys) rs1555393508
NM_000138.5(FBN1):c.8536G>C (p.Glu2846Gln) rs1555393508
NM_000138.5(FBN1):c.8536G>T (p.Glu2846Ter) rs1555393508
NM_000138.5(FBN1):c.8542A>G (p.Lys2848Glu) rs199846998
NM_000138.5(FBN1):c.8543A>G (p.Lys2848Arg) rs765839151
NM_000138.5(FBN1):c.8543_8544del (p.Lys2848fs) rs794728323
NM_000138.5(FBN1):c.8544A>C (p.Lys2848Asn) rs2042856933
NM_000138.5(FBN1):c.8544del (p.Lys2848fs) rs794728323
NM_000138.5(FBN1):c.8544dup (p.Tyr2849fs) rs794728323
NM_000138.5(FBN1):c.8546_8547del (p.Lys2848_Tyr2849insTer) rs2505370468
NM_000138.5(FBN1):c.8547T>C (p.Tyr2849=) rs2042856892
NM_000138.5(FBN1):c.8547T>G (p.Tyr2849Ter)
NM_000138.5(FBN1):c.8550C>T (p.Asp2850=)
NM_000138.5(FBN1):c.8552_8553del (p.Lys2851fs)
NM_000138.5(FBN1):c.8553A>G (p.Lys2851=)
NM_000138.5(FBN1):c.8554_8561delinsTATCAC (p.Asp2852fs) rs2141209520
NM_000138.5(FBN1):c.8555A>G (p.Asp2852Gly) rs773653099
NM_000138.5(FBN1):c.8557T>C (p.Tyr2853His) rs2505370417
NM_000138.5(FBN1):c.855del (p.Lys285fs) rs2141353573
NM_000138.5(FBN1):c.8561del (p.Leu2854fs) rs1060501033
NM_000138.5(FBN1):c.8562del (p.Ser2855fs) rs2505370396
NM_000138.5(FBN1):c.8564G>T (p.Ser2855Ile) rs762079635
NM_000138.5(FBN1):c.8575G>A (p.Gly2859Ser) rs1266629829
NM_000138.5(FBN1):c.8576del (p.Gly2859fs) rs2141209492
NM_000138.5(FBN1):c.8579A>G (p.Asp2860Gly) rs368599541
NM_000138.5(FBN1):c.8586G>A (p.Leu2862=) rs2042856515
NM_000138.5(FBN1):c.8591T>A (p.Met2864Lys) rs1060501028
NM_000138.5(FBN1):c.8591T>C (p.Met2864Thr) rs1060501028
NM_000138.5(FBN1):c.8592G>A (p.Met2864Ile) rs1281410164
NM_000138.5(FBN1):c.8596dup (p.Ile2866fs) rs1597506547
NM_000138.5(FBN1):c.8597T>A (p.Ile2866Asn) rs1597506544
NM_000138.5(FBN1):c.859G>A (p.Glu287Lys) rs1597591602
NM_000138.5(FBN1):c.859G>T (p.Glu287Ter) rs1597591602
NM_000138.5(FBN1):c.8600A>C (p.Gln2867Pro) rs397515865
NM_000138.5(FBN1):c.8601G>A (p.Gln2867=) rs2141209442
NM_000138.5(FBN1):c.8605_8606del (p.Leu2869fs) rs397515866
NM_000138.5(FBN1):c.860A>G (p.Glu287Gly) rs1555401454
NM_000138.5(FBN1):c.862+13A>C rs2043993776
NM_000138.5(FBN1):c.862+14T>G rs2505655187
NM_000138.5(FBN1):c.862G>A (p.Asp288Asn) rs2505655210
NM_000138.5(FBN1):c.863-10del rs748672558
NM_000138.5(FBN1):c.863-10dup rs748672558
NM_000138.5(FBN1):c.863-16T>A
NM_000138.5(FBN1):c.863-2A>G rs2505641147
NM_000138.5(FBN1):c.865A>G (p.Ile289Val) rs1403216956
NM_000138.5(FBN1):c.869A>T (p.Asp290Val)
NM_000138.5(FBN1):c.871G>T (p.Glu291Ter) rs1232880706
NM_000138.5(FBN1):c.87G>T (p.Leu29Phe) rs2505822084
NM_000138.5(FBN1):c.881C>T (p.Thr294Ile)
NM_000138.5(FBN1):c.890G>A (p.Gly297Glu) rs1235683402
NM_000138.5(FBN1):c.895T>C (p.Cys299Arg) rs1597587564
NM_000138.5(FBN1):c.896G>A (p.Cys299Tyr)
NM_000138.5(FBN1):c.897_898del (p.Cys299_Glu300delinsTer) rs2141343447
NM_000138.5(FBN1):c.8G>A (p.Arg3Gln) rs149929989
NM_000138.5(FBN1):c.902G>C (p.Gly301Ala) rs142888621
NM_000138.5(FBN1):c.905G>A (p.Gly302Asp) rs779866501
NM_000138.5(FBN1):c.905G>T (p.Gly302Val) rs779866501
NM_000138.5(FBN1):c.905del (p.Gly302fs) rs2043913021
NM_000138.5(FBN1):c.907G>A (p.Glu303Lys) rs1566919661
NM_000138.5(FBN1):c.907G>T (p.Glu303Ter)
NM_000138.5(FBN1):c.90G>T (p.Glu30Asp) rs778831047
NM_000138.5(FBN1):c.911G>A (p.Cys304Tyr) rs1555401011
NM_000138.5(FBN1):c.914C>T (p.Thr305Ile)
NM_000138.5(FBN1):c.916_919del (p.Asn306fs) rs1597587532
NM_000138.5(FBN1):c.917del (p.Asn306fs) rs1064793637
NM_000138.5(FBN1):c.920C>G (p.Thr307Arg) rs2505640876
NM_000138.5(FBN1):c.920_921del (p.Thr307fs) rs2505640863
NM_000138.5(FBN1):c.925del (p.Ser309fs) rs2141343395
NM_000138.5(FBN1):c.929G>C (p.Ser310Thr) rs2043912422
NM_000138.5(FBN1):c.933C>G (p.Tyr311Ter) rs2141343382
NM_000138.5(FBN1):c.936T>C (p.Phe312=) rs2043912340
NM_000138.5(FBN1):c.937T>C (p.Cys313Arg) rs2141343372
NM_000138.5(FBN1):c.938G>T (p.Cys313Phe) rs2141343367
NM_000138.5(FBN1):c.939C>G (p.Cys313Trp) rs1555401007
NM_000138.5(FBN1):c.943T>C (p.Cys315Arg) rs2505640756
NM_000138.5(FBN1):c.945del (p.Pro317fs) rs2141343351
NM_000138.5(FBN1):c.946C>A (p.Pro316Thr) rs756687172
NM_000138.5(FBN1):c.946C>T (p.Pro316Ser) rs756687172
NM_000138.5(FBN1):c.947C>A (p.Pro316His) rs754353597
NM_000138.5(FBN1):c.947C>T (p.Pro316Leu) rs754353597
NM_000138.5(FBN1):c.948C>A (p.Pro316=) rs2141343333
NM_000138.5(FBN1):c.951T>A (p.Pro317=)
NM_000138.5(FBN1):c.953del (p.Gly318fs) rs2505640690
NM_000138.5(FBN1):c.954T>G (p.Gly318=)
NM_000138.5(FBN1):c.958dup (p.Tyr320fs) rs397515867
NM_000138.5(FBN1):c.959dup (p.Tyr320Ter) rs1555401005
NM_000138.5(FBN1):c.95G>A (p.Gly32Glu) rs2140787667
NM_000138.5(FBN1):c.960C>A (p.Tyr320Ter) rs1555401004
NM_000138.5(FBN1):c.961_962del (p.Thr321fs) rs1555401002
NM_000138.5(FBN1):c.962C>T (p.Thr321Ile) rs2043911873
NM_000138.5(FBN1):c.963C>G (p.Thr321=) rs767914958
NM_000138.5(FBN1):c.972T>C (p.Asp324=) rs776739338
NM_000138.5(FBN1):c.974_983del (p.Gly325fs) rs1566919599
NM_000138.5(FBN1):c.978del (p.Arg327fs) rs1060501094
NM_000138.5(FBN1):c.979A>G (p.Arg327Gly) rs1597587453
NM_000138.5(FBN1):c.981A>G (p.Arg327=)
NM_000138.5(FBN1):c.981A>T (p.Arg327Ser)
NM_000138.5(FBN1):c.988+11T>G rs2043910855
NM_000138.5(FBN1):c.988+14C>A rs1019270602
NM_000138.5(FBN1):c.988+16A>T rs780202250
NM_000138.5(FBN1):c.988+16_988+26del rs1267804240
NM_000138.5(FBN1):c.988+1G>A
NM_000138.5(FBN1):c.988+20G>T rs375760654
NM_000138.5(FBN1):c.989-10T>A rs774104217
NM_000138.5(FBN1):c.989-16_989-15del rs1443212781
NM_000138.5(FBN1):c.98A>G (p.Asn33Ser) rs2140787661
NM_000138.5:c.(7204+1_7205-1)_(7819+1_7820-1)del
Single allele
t(9;15)(p13.3;q21.1)

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