ClinVar Miner

List of variants in gene FBN1 studied for Marfan syndrome

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Gene type:
ClinVar version:
Total variants: 1698
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HGVS dbSNP gnomAD frequency
NM_000138.5(FBN1):c.*730G>T rs13598 0.89602
NM_000138.5(FBN1):c.*2158G>A rs11070641 0.75090
NM_000138.5(FBN1):c.*1575T>G rs4775760 0.68134
NM_000138.5(FBN1):c.6997+17C>G rs363832 0.67656
NM_000138.5(FBN1):c.*314C>T rs1042078 0.63415
NM_000138.5(FBN1):c.1875T>C (p.Asn625=) rs25458 0.25074
NM_000138.5(FBN1):c.3464-5G>A rs11853943 0.16287
NM_000138.5(FBN1):c.156G>T (p.Ala52=) rs25398 0.06859
NM_000138.4(FBN1):c.-388C>T rs3825792 0.06008
NM_000138.5(FBN1):c.*2040T>C rs73390272 0.03120
NM_000138.5(FBN1):c.*1959G>A rs12050562 0.03119
NM_000138.5(FBN1):c.6855T>C (p.Asp2285=) rs363836 0.02755
NM_000138.5(FBN1):c.6888G>A (p.Gln2296=) rs363830 0.02418
NM_000138.5(FBN1):c.7819+8A>C rs363838 0.02324
NM_000138.5(FBN1):c.*57A>G rs363849 0.01992
NM_000138.5(FBN1):c.2420-58del rs149403312 0.01826
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.3442C>G (p.Pro1148Ala) rs140598 0.01315
NM_000138.5(FBN1):c.3294C>T (p.Asp1098=) rs140587 0.01051
NM_000138.5(FBN1):c.3965-8T>C rs140637 0.00859
NM_000138.5(FBN1):c.*867G>T rs189749406 0.00798
NM_000138.5(FBN1):c.986T>C (p.Ile329Thr) rs12324002 0.00737
NM_000138.5(FBN1):c.*2153A>G rs116443051 0.00654
NM_000138.5(FBN1):c.5343G>A (p.Val1781=) rs140649 0.00561
NM_000138.5(FBN1):c.2855-9C>T rs140590 0.00556
NM_000138.5(FBN1):c.6393C>T (p.Cys2131=) rs61730051 0.00522
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 0.00435
NM_000138.5(FBN1):c.306C>T (p.Cys102=) rs25388 0.00372
NM_000138.5(FBN1):c.*1298C>G rs143446014 0.00360
NM_000138.5(FBN1):c.3082+8del rs193922196 0.00359
NM_000138.5(FBN1):c.8283A>T (p.Thr2761=) rs146120912 0.00314
NM_000138.5(FBN1):c.2055C>T (p.Cys685=) rs140603 0.00304
NM_000138.5(FBN1):c.7497A>G (p.Leu2499=) rs148516442 0.00268
NM_000138.5(FBN1):c.*2524A>G rs75372203 0.00254
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.*2045G>A rs372254135 0.00106
NM_000138.5(FBN1):c.*2024A>G rs558488257 0.00103
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.6700G>A (p.Val2234Met) rs112084407 0.00078
NM_000138.5(FBN1):c.510C>T (p.Tyr170=) rs111671429 0.00076
NM_000138.5(FBN1):c.*2091G>A rs575922741 0.00073
NM_000138.5(FBN1):c.2934C>G (p.Asp978Glu) rs138438849 0.00070
NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp) rs61746008 0.00070
NM_000138.5(FBN1):c.3077T>C (p.Phe1026Ser) rs200381100 0.00067
NM_000138.5(FBN1):c.*779C>T rs113200355 0.00064
NM_000138.5(FBN1):c.*1341C>T rs766719764 0.00061
NM_000138.5(FBN1):c.3422C>T (p.Pro1141Leu) rs2228241 0.00054
NM_000138.5(FBN1):c.6038-37G>A rs202137580 0.00051
NM_000138.5(FBN1):c.7346A>G (p.Asn2449Ser) rs146166400 0.00049
NM_000138.5(FBN1):c.5296+14G>A rs140650 0.00045
NM_000138.5(FBN1):c.7098C>T (p.Asp2366=) rs1005074 0.00044
NM_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.2895G>A (p.Glu965=) rs140591 0.00038
NM_000138.5(FBN1):c.*2395G>A rs184719603 0.00035
NM_000138.5(FBN1):c.5788+10C>A rs371560107 0.00032
NM_000138.5(FBN1):c.8363C>T (p.Thr2788Met) rs143007898 0.00031
NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile) rs183306990 0.00030
NM_000138.5(FBN1):c.*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.7072G>A (p.Val2358Ile) rs140537304 0.00028
NM_000138.5(FBN1):c.*1949T>C rs534577080 0.00026
NM_000138.5(FBN1):c.539-15del rs193922211 0.00026
NM_000138.5(FBN1):c.*1706C>A rs770825180 0.00024
NM_000138.5(FBN1):c.*2360C>G rs144404153 0.00024
NM_000138.5(FBN1):c.2678-12T>C rs200368037 0.00024
NM_000138.5(FBN1):c.6314-15G>A rs200841830 0.00023
NM_000138.5(FBN1):c.*1432A>T rs750902806 0.00022
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.3590-8T>C rs140600 0.00018
NM_000138.5(FBN1):c.902G>T (p.Gly301Val) rs142888621 0.00018
NM_000138.5(FBN1):c.*1228T>C rs372333234 0.00016
NM_000138.5(FBN1):c.1371C>G (p.Arg457=) rs25436 0.00015
NM_000138.5(FBN1):c.3423G>A (p.Pro1141=) rs140396599 0.00015
NM_000138.5(FBN1):c.7056C>T (p.Ser2352=) rs149697299 0.00015
NM_000138.5(FBN1):c.3936C>T (p.Ser1312=) rs779913610 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.7661G>A (p.Arg2554Gln) rs199522781 0.00014
NM_000138.5(FBN1):c.185G>A (p.Arg62His) rs145942328 0.00012
NM_000138.5(FBN1):c.6576C>T (p.Cys2192=) rs369058466 0.00012
NM_000138.5(FBN1):c.*2037T>C rs544842106 0.00011
NM_000138.5(FBN1):c.*2556G>A rs886051221 0.00011
NM_000138.5(FBN1):c.1323A>G (p.Pro441=) rs202030761 0.00011
NM_000138.5(FBN1):c.1821T>C (p.Asp607=) rs149133920 0.00011
NM_000138.5(FBN1):c.7560G>A (p.Thr2520=) rs760425899 0.00011
NM_000138.5(FBN1):c.2094G>T (p.Pro698=) rs144775475 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.1345G>A (p.Val449Ile) rs139058991 0.00009
NM_000138.5(FBN1):c.3337+11G>A rs368726848 0.00009
NM_000138.5(FBN1):c.396T>C (p.Asp132=) rs147481356 0.00009
NM_000138.5(FBN1):c.7846A>G (p.Ile2616Val) rs143677764 0.00009
NM_000138.5(FBN1):c.942A>G (p.Lys314=) rs376965275 0.00009
NM_000138.5(FBN1):c.3171C>T (p.Ser1057=) rs144400069 0.00008
NM_000138.5(FBN1):c.5297-19A>G rs375665466 0.00008
NM_000138.5(FBN1):c.6038-15_6038-14del rs752198920 0.00008
NM_000138.5(FBN1):c.7379A>G (p.Lys2460Arg) rs144189837 0.00008
NM_000138.5(FBN1):c.*254C>T rs886051243 0.00007
NM_000138.5(FBN1):c.2678-3C>T rs747274959 0.00007
NM_000138.5(FBN1):c.*2592T>C rs752936528 0.00006
NM_000138.5(FBN1):c.2434G>A (p.Glu812Lys) rs201778577 0.00006
NM_000138.5(FBN1):c.4998C>G (p.Thr1666=) rs141925790 0.00006
NM_000138.5(FBN1):c.5672-15C>G rs776163620 0.00006
NM_000138.5(FBN1):c.6164-3C>T rs571365493 0.00006
NM_000138.5(FBN1):c.6302C>T (p.Thr2101Met) rs200816828 0.00006
NM_000138.5(FBN1):c.6577G>A (p.Glu2193Lys) rs201361628 0.00006
NM_000138.5(FBN1):c.7412C>G (p.Pro2471Arg) rs193922233 0.00006
NM_000138.5(FBN1):c.7516G>A (p.Gly2506Ser) rs756295016 0.00006
NM_000138.5(FBN1):c.7999G>A (p.Glu2667Lys) rs149062442 0.00006
NM_000138.5(FBN1):c.8071G>A (p.Gly2691Ser) rs145105768 0.00006
NM_000138.5(FBN1):c.8310C>T (p.His2770=) rs112189340 0.00006
NM_000138.5(FBN1):c.247+10T>C rs367618012 0.00005
NM_000138.5(FBN1):c.2927G>A (p.Arg976His) rs140954477 0.00005
NM_000138.5(FBN1):c.7051G>A (p.Gly2351Ser) rs746127796 0.00005
NM_000138.5(FBN1):c.7820-4G>A rs750036723 0.00005
NM_000138.5(FBN1):c.8149G>A (p.Glu2717Lys) rs187553035 0.00005
NM_000138.5(FBN1):c.*1325T>C rs569152308 0.00004
NM_000138.5(FBN1):c.*2221A>G rs886051226 0.00004
NM_000138.5(FBN1):c.*300T>C rs1011876253 0.00004
NM_000138.5(FBN1):c.1602T>C (p.Cys534=) rs377386372 0.00004
NM_000138.5(FBN1):c.1884C>T (p.Cys628=) rs150421653 0.00004
NM_000138.5(FBN1):c.3295G>A (p.Glu1099Lys) rs763485521 0.00004
NM_000138.5(FBN1):c.3462C>T (p.Ile1154=) rs144339604 0.00004
NM_000138.5(FBN1):c.3896C>T (p.Thr1299Met) rs774851476 0.00004
NM_000138.5(FBN1):c.4163G>A (p.Arg1388His) rs749196340 0.00004
NM_000138.5(FBN1):c.538+4A>G rs375721252 0.00004
NM_000138.5(FBN1):c.5442C>T (p.Asn1814=) rs397515822 0.00004
NM_000138.5(FBN1):c.5724A>G (p.Thr1908=) rs141219664 0.00004
NM_000138.5(FBN1):c.5921T>C (p.Ile1974Thr) rs765878996 0.00004
NM_000138.5(FBN1):c.8299A>G (p.Asn2767Asp) rs771437236 0.00004
NM_000138.5(FBN1):c.8308C>T (p.His2770Tyr) rs774658482 0.00004
NM_000138.5(FBN1):c.985A>G (p.Ile329Val) rs370955295 0.00004
NM_000138.5(FBN1):c.*1375A>C rs1049315076 0.00003
NM_000138.5(FBN1):c.*1619T>A rs374297351 0.00003
NM_000138.5(FBN1):c.*1672G>A rs886051231 0.00003
NM_000138.5(FBN1):c.*845C>T rs1022238055 0.00003
NM_000138.5(FBN1):c.2056G>A (p.Ala686Thr) rs377621293 0.00003
NM_000138.5(FBN1):c.2658G>A (p.Pro886=) rs193922192 0.00003
NM_000138.5(FBN1):c.3223C>T (p.Arg1075Cys) rs186805359 0.00003
NM_000138.5(FBN1):c.4405C>T (p.Arg1469Cys) rs587782946 0.00003
NM_000138.5(FBN1):c.5311C>T (p.Arg1771Trp) rs767884599 0.00003
NM_000138.5(FBN1):c.5519G>A (p.Arg1840His) rs369482365 0.00003
NM_000138.5(FBN1):c.5671+7A>G rs751170564 0.00003
NM_000138.5(FBN1):c.6044A>T (p.Asp2015Val) rs746719632 0.00003
NM_000138.5(FBN1):c.6819G>A (p.Met2273Ile) rs778027769 0.00003
NM_000138.5(FBN1):c.6890C>T (p.Thr2297Met) rs773785908 0.00003
NM_000138.5(FBN1):c.7241G>A (p.Arg2414Gln) rs143863014 0.00003
NM_000138.5(FBN1):c.8202C>T (p.Asn2734=) rs113904256 0.00003
NM_000138.5(FBN1):c.8219A>G (p.Asn2740Ser) rs193922242 0.00003
NM_000138.5(FBN1):c.843A>C (p.Glu281Asp) rs772218768 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.2547C>G (p.Ile849Met) rs778258207 0.00002
NM_000138.5(FBN1):c.2893G>C (p.Glu965Gln) rs748905831 0.00002
NM_000138.5(FBN1):c.2950G>A (p.Val984Ile) rs747713929 0.00002
NM_000138.5(FBN1):c.3937G>A (p.Gly1313Ser) rs1156984408 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.5443G>A (p.Gly1815Ser) rs745680336 0.00002
NM_000138.5(FBN1):c.5518C>T (p.Arg1840Cys) rs765387131 0.00002
NM_000138.5(FBN1):c.5788+19G>A rs758996081 0.00002
NM_000138.5(FBN1):c.6095C>G (p.Thr2032Ser) rs756506237 0.00002
NM_000138.5(FBN1):c.6379+4A>G rs780370404 0.00002
NM_000138.5(FBN1):c.6844C>T (p.Arg2282Trp) rs765205164 0.00002
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054 0.00002
NM_000138.5(FBN1):c.8386G>A (p.Glu2796Lys) rs112310699 0.00002
NM_000138.4(FBN1):c.-319G>T rs886051256 0.00001
NM_000138.5(FBN1):c.*1437G>A rs549498511 0.00001
NM_000138.5(FBN1):c.*202_*203del rs766125141 0.00001
NM_000138.5(FBN1):c.*252G>A rs1407193739 0.00001
NM_000138.5(FBN1):c.*764G>A rs55717426 0.00001
NM_000138.5(FBN1):c.*968G>A rs999275120 0.00001
NM_000138.5(FBN1):c.1169C>T (p.Ser390Phe) rs746385384 0.00001
NM_000138.5(FBN1):c.1634G>A (p.Arg545His) rs193922179 0.00001
NM_000138.5(FBN1):c.1693C>T (p.Arg565Ter) rs113422242 0.00001
NM_000138.5(FBN1):c.1825C>T (p.Arg609Cys) rs772574901 0.00001
NM_000138.5(FBN1):c.1837+9T>C rs56102085 0.00001
NM_000138.5(FBN1):c.1844A>G (p.Asn615Ser) rs397515763 0.00001
NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys) rs727503057 0.00001
NM_000138.5(FBN1):c.2057C>A (p.Ala686Asp) rs193922186 0.00001
NM_000138.5(FBN1):c.2294-19A>G rs1353634853 0.00001
NM_000138.5(FBN1):c.2433C>T (p.Cys811=) rs193921256 0.00001
NM_000138.5(FBN1):c.2713G>A (p.Gly905Arg) rs756111066 0.00001
NM_000138.5(FBN1):c.287G>C (p.Arg96Thr) rs794728291 0.00001
NM_000138.5(FBN1):c.2920C>T (p.Arg974Cys) rs397514558 0.00001
NM_000138.5(FBN1):c.2979C>T (p.Cys993=) rs150126098 0.00001
NM_000138.5(FBN1):c.3031G>A (p.Gly1011Arg) rs1267721327 0.00001
NM_000138.5(FBN1):c.3043G>A (p.Ala1015Thr) rs55831697 0.00001
NM_000138.5(FBN1):c.3089A>G (p.Asn1030Ser) rs375996640 0.00001
NM_000138.5(FBN1):c.3184G>A (p.Asp1062Asn) rs758366498 0.00001
NM_000138.5(FBN1):c.3409C>T (p.Arg1137Cys) rs1439487763 0.00001
NM_000138.5(FBN1):c.3463G>A (p.Asp1155Asn) rs794728204 0.00001
NM_000138.5(FBN1):c.347-2A>G rs1555405056 0.00001
NM_000138.5(FBN1):c.3560A>G (p.His1187Arg) rs193922200 0.00001
NM_000138.5(FBN1):c.3570C>T (p.Pro1190=) rs188317014 0.00001
NM_000138.5(FBN1):c.3571G>A (p.Asp1191Asn) rs370121450 0.00001
NM_000138.5(FBN1):c.3688A>C (p.Met1230Leu) rs759424465 0.00001
NM_000138.5(FBN1):c.3689T>C (p.Met1230Thr) rs774003646 0.00001
NM_000138.5(FBN1):c.3740A>T (p.Asn1247Ile) rs568625812 0.00001
NM_000138.5(FBN1):c.3797A>T (p.Tyr1266Phe) rs200283837 0.00001
NM_000138.5(FBN1):c.3931T>A (p.Tyr1311Asn) rs1406315227 0.00001
NM_000138.5(FBN1):c.4046G>C (p.Ser1349Thr) rs1373690375 0.00001
NM_000138.5(FBN1):c.4057G>A (p.Gly1353Arg) rs187177496 0.00001
NM_000138.5(FBN1):c.4444G>A (p.Gly1482Ser) rs762532435 0.00001
NM_000138.5(FBN1):c.4460-8G>A rs193922204 0.00001
NM_000138.5(FBN1):c.484G>A (p.Ala162Thr) rs193922210 0.00001
NM_000138.5(FBN1):c.4913A>C (p.Tyr1638Ser) rs374520085 0.00001
NM_000138.5(FBN1):c.5142G>A (p.Met1714Ile) rs368287795 0.00001
NM_000138.5(FBN1):c.5304T>A (p.Asp1768Glu) rs867058901 0.00001
NM_000138.5(FBN1):c.5459G>A (p.Arg1820His) rs1340155407 0.00001
NM_000138.5(FBN1):c.5512G>A (p.Gly1838Ser) rs397515823 0.00001
NM_000138.5(FBN1):c.5582G>A (p.Ser1861Asn) rs766358553 0.00001
NM_000138.5(FBN1):c.5771A>G (p.His1924Arg) rs748230405 0.00001
NM_000138.5(FBN1):c.5776A>G (p.Asn1926Asp) rs1060501097 0.00001
NM_000138.5(FBN1):c.5788+5G>A rs193922219 0.00001
NM_000138.5(FBN1):c.6113G>A (p.Cys2038Tyr) rs363804 0.00001
NM_000138.5(FBN1):c.6163+2dup rs794728315 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.6354C>T (p.Ile2118=) rs112989722 0.00001
NM_000138.5(FBN1):c.643C>G (p.Arg215Gly) rs111687884 0.00001
NM_000138.5(FBN1):c.6461C>G (p.Pro2154Arg) rs756219617 0.00001
NM_000138.5(FBN1):c.6659G>A (p.Arg2220Gln) rs780651466 0.00001
NM_000138.5(FBN1):c.6724C>T (p.Arg2242Cys) rs779749926 0.00001
NM_000138.5(FBN1):c.6739+10C>T rs1179540326 0.00001
NM_000138.5(FBN1):c.6772T>G (p.Cys2258Gly) rs1057520617 0.00001
NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr) rs193922228 0.00001
NM_000138.5(FBN1):c.6845G>A (p.Arg2282Gln) rs759696323 0.00001
NM_000138.5(FBN1):c.6917G>A (p.Arg2306His) rs770443276 0.00001
NM_000138.5(FBN1):c.6970G>A (p.Ala2324Thr) rs148831709 0.00001
NM_000138.5(FBN1):c.6988G>A (p.Glu2330Lys) rs1042807324 0.00001
NM_000138.5(FBN1):c.7339G>A (p.Glu2447Lys) rs137854464 0.00001
NM_000138.5(FBN1):c.7360C>A (p.Pro2454Thr) rs1166405014 0.00001
NM_000138.5(FBN1):c.7598A>G (p.Asn2533Ser) rs111231879 0.00001
NM_000138.5(FBN1):c.762C>T (p.Pro254=) rs374318726 0.00001
NM_000138.5(FBN1):c.763G>A (p.Gly255Arg) rs781113082 0.00001
NM_000138.5(FBN1):c.7702G>A (p.Val2568Met) rs138558987 0.00001
NM_000138.5(FBN1):c.776G>A (p.Gly259Glu) rs751169871 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.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.8026C>T (p.Pro2676Ser) rs745650955 0.00001
NM_000138.5(FBN1):c.8029G>A (p.Gly2677Ser) rs1566889839 0.00001
NM_000138.5(FBN1):c.8051+5G>A rs767384075 0.00001
NM_000138.5(FBN1):c.8177G>A (p.Arg2726Gln) rs552157433 0.00001
NM_000138.5(FBN1):c.8227-3C>T rs200822151 0.00001
NM_000138.5(FBN1):c.8326C>T (p.Arg2776Ter) rs137854466 0.00001
NM_000138.5(FBN1):c.8494A>G (p.Ser2832Gly) rs376933421 0.00001
NM_000138.5(FBN1):c.862+3A>G rs1555401453 0.00001
NM_000138.5(FBN1):c.863A>G (p.Asp288Gly) rs565078451 0.00001
NM_000138.5(FBN1):c.91G>A (p.Ala31Thr) rs371130701 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.(?_48470634)_(48470756_?)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.5423-?_*2684+?del
NM_000138.4(FBN1):c.5470_5471delinsAT (p.Cys1824Ile) rs1555396205
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.*1201T>G rs574181586
NM_000138.5(FBN1):c.*1396C>T rs886051235
NM_000138.5(FBN1):c.*1477C>A rs886051233
NM_000138.5(FBN1):c.*1562G>T rs78442438
NM_000138.5(FBN1):c.*1635C>A rs886051232
NM_000138.5(FBN1):c.*1733A>G rs886051230
NM_000138.5(FBN1):c.*1943G>T rs886051229
NM_000138.5(FBN1):c.*1950dup rs535798341
NM_000138.5(FBN1):c.*2078G>T rs886051228
NM_000138.5(FBN1):c.*2114T>A rs886051227
NM_000138.5(FBN1):c.*2260C>A rs886051225
NM_000138.5(FBN1):c.*235T>C rs1597506366
NM_000138.5(FBN1):c.*2421C>A rs886051224
NM_000138.5(FBN1):c.*2443G>T rs886051223
NM_000138.5(FBN1):c.*2533C>A rs886051222
NM_000138.5(FBN1):c.*2578C>T rs761025257
NM_000138.5(FBN1):c.*2594G>T rs886051220
NM_000138.5(FBN1):c.*2638T>C rs886051219
NM_000138.5(FBN1):c.*268G>C rs886051242
NM_000138.5(FBN1):c.*286C>T rs886051241
NM_000138.5(FBN1):c.*311G>A rs894774727
NM_000138.5(FBN1):c.*325T>C rs537909430
NM_000138.5(FBN1):c.*399C>A rs2042852375
NM_000138.5(FBN1):c.*406G>T rs886051240
NM_000138.5(FBN1):c.*724A>C rs886051239
NM_000138.5(FBN1):c.*938G>T rs886051238
NM_000138.5(FBN1):c.*948G>T rs749224599
NM_000138.5(FBN1):c.*960del rs527621676
NM_000138.5(FBN1):c.*967C>T rs56024388
NM_000138.5(FBN1):c.*987C>T rs886051237
NM_000138.5(FBN1):c.-35C>T rs199781948
NM_000138.5(FBN1):c.112A>T (p.Arg38Ter) rs1355716557
NM_000138.5(FBN1):c.1148-2A>G rs397515756
NM_000138.5(FBN1):c.114del (p.Ala39fs)
NM_000138.5(FBN1):c.1156_1167del (p.Asn386_Cys389del) rs672601352
NM_000138.5(FBN1):c.1167C>A (p.Cys389Ter) rs746201757
NM_000138.5(FBN1):c.1175C>T (p.Pro392Leu) rs534127494
NM_000138.5(FBN1):c.1192A>T (p.Arg398Ter) rs397515754
NM_000138.5(FBN1):c.1193G>A (p.Arg398Lys) rs886051250
NM_000138.5(FBN1):c.1211del (p.Pro404fs) rs112289537
NM_000138.5(FBN1):c.124del (p.Ala42fs) rs1555407414
NM_000138.5(FBN1):c.1270C>T (p.Gln424Ter) rs1439533354
NM_000138.5(FBN1):c.1278G>T (p.Pro426=) rs113245313
NM_000138.5(FBN1):c.1285C>T (p.Arg429Ter) rs112645512
NM_000138.5(FBN1):c.1299dup (p.Tyr434fs) rs2141330877
NM_000138.5(FBN1):c.1313C>T (p.Ser438Phe) rs2043799037
NM_000138.5(FBN1):c.1318G>T (p.Glu440Ter) rs1555400406
NM_000138.5(FBN1):c.1328-9T>A rs1209671382
NM_000138.5(FBN1):c.1335dup (p.Pro446fs) rs730880356
NM_000138.5(FBN1):c.1360C>T (p.Gln454Ter) rs1555400387
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>T (p.Arg464Cys) rs587782943
NM_000138.5(FBN1):c.1391del (p.Arg464fs) rs1555400385
NM_000138.5(FBN1):c.1421G>T (p.Cys474Phe) rs794728166
NM_000138.5(FBN1):c.1422del (p.Cys474fs) rs1555400379
NM_000138.5(FBN1):c.1453C>T (p.Arg485Cys) rs137854485
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)
NM_000138.5(FBN1):c.1468+4C>A rs765579667
NM_000138.5(FBN1):c.1468+5G>A rs397515757
NM_000138.5(FBN1):c.1468G>T (p.Asp490Tyr) rs1555400371
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.1495T>G (p.Cys499Gly) rs2043778680
NM_000138.5(FBN1):c.1496G>A (p.Cys499Tyr) rs587782944
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.1537T>C (p.Cys513Arg) rs1555400279
NM_000138.5(FBN1):c.1538G>T (p.Cys513Phe) rs1060501036
NM_000138.5(FBN1):c.1546C>T (p.Arg516Ter) rs113812345
NM_000138.5(FBN1):c.1552G>T (p.Gly518Ter) rs794728168
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.1561_1562del (p.Ser521fs) rs397515758
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.1575del (p.Thr526fs) rs1555400268
NM_000138.5(FBN1):c.1579G>T (p.Glu527Ter) rs1555400267
NM_000138.5(FBN1):c.1585C>T (p.Arg529Ter) rs137854476
NM_000138.5(FBN1):c.1589-1217G>T
NM_000138.5(FBN1):c.1589-14A>G rs1566915335
NM_000138.5(FBN1):c.1589-5T>C rs1371798538
NM_000138.5(FBN1):c.1589A>G (p.Asp530Gly) rs794728171
NM_000138.5(FBN1):c.1601G>A (p.Cys534Tyr) rs397515759
NM_000138.5(FBN1):c.1616G>A (p.Arg539Gln)
NM_000138.5(FBN1):c.1617del (p.Ile540fs) rs1555400066
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.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.1637G>A (p.Cys546Tyr)
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.1643A>T (p.Asn548Ile) rs137854462
NM_000138.5(FBN1):c.1646_1649delinsGT (p.Thr549fs) rs1597577975
NM_000138.5(FBN1):c.165-32del rs193922180
NM_000138.5(FBN1):c.165-46CTT[2] rs386134232
NM_000138.5(FBN1):c.1659del (p.His554fs) rs1566915277
NM_000138.5(FBN1):c.1664G>A (p.Cys555Tyr) rs794728172
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.1678G>A (p.Gly560Ser) rs1064794283
NM_000138.5(FBN1):c.1679G>A (p.Gly560Asp) rs1555400052
NM_000138.5(FBN1):c.1679G>T (p.Gly560Val) rs1555400052
NM_000138.5(FBN1):c.1708T>C (p.Cys570Arg) rs113902534
NM_000138.5(FBN1):c.1709G>A (p.Cys570Tyr) rs1555400049
NM_000138.5(FBN1):c.1709del (p.Cys570fs) rs193922182
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.1715-1G>A rs1555399977
NM_000138.5(FBN1):c.1715A>T (p.Asp572Val) rs1555399976
NM_000138.5(FBN1):c.1720del (p.Asp574fs) rs2141321697
NM_000138.5(FBN1):c.1726T>A (p.Cys576Ser) rs794728174
NM_000138.5(FBN1):c.1727G>A (p.Cys576Tyr) rs1555399974
NM_000138.5(FBN1):c.1737del (p.Asn580fs)
NM_000138.5(FBN1):c.1744_1745del (p.Cys582fs) rs869025420
NM_000138.5(FBN1):c.1754G>A (p.Gly585Glu) 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.1760G>A (p.Cys587Tyr) rs1555399963
NM_000138.5(FBN1):c.1766A>G (p.Asn589Ser) rs1555399962
NM_000138.5(FBN1):c.176G>T (p.Cys59Phe) rs1555405673
NM_000138.5(FBN1):c.176del (p.Cys59fs) rs1597633219
NM_000138.5(FBN1):c.1775G>A (p.Gly592Asp) rs1555399959
NM_000138.5(FBN1):c.1782del (p.Phe594fs) rs1597577114
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.1794C>G (p.Cys598Trp) rs1555399954
NM_000138.5(FBN1):c.1801G>T (p.Gly601Ter) rs1555399953
NM_000138.5(FBN1):c.1805T>C (p.Phe602Ser) rs1555399952
NM_000138.5(FBN1):c.1817C>G (p.Ser606Ter) rs794728176
NM_000138.5(FBN1):c.1823del (p.Gly608fs) rs1555399949
NM_000138.5(FBN1):c.1831T>C (p.Cys611Arg) rs1555399944
NM_000138.5(FBN1):c.1832G>A (p.Cys611Tyr)
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.1838-1G>A rs1555399840
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.1849T>C (p.Cys617Arg) rs1060501017
NM_000138.5(FBN1):c.1849T>G (p.Cys617Gly) rs1060501017
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.1881_1883inv (p.Cys628Asn)
NM_000138.5(FBN1):c.1883G>T (p.Cys628Phe) rs1555399825
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.189T>G (p.Tyr63Ter) rs1597633183
NM_000138.5(FBN1):c.1904A>G (p.Tyr635Cys) rs1555399816
NM_000138.5(FBN1):c.1909T>C (p.Cys637Arg) rs869025404
NM_000138.5(FBN1):c.1910G>C (p.Cys637Ser) rs1478695794
NM_000138.5(FBN1):c.1916G>A (p.Cys639Tyr) rs878853676
NM_000138.5(FBN1):c.1928T>G (p.Leu643Arg) rs1555399813
NM_000138.5(FBN1):c.1936_1951dup (p.Val651fs) rs2141317141
NM_000138.5(FBN1):c.1948C>T (p.Arg650Cys) rs193922185
NM_000138.5(FBN1):c.1948dup (p.Arg650fs) rs1566913982
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.1960+1G>C rs1555399804
NM_000138.5(FBN1):c.1960+2T>C rs1555399802
NM_000138.5(FBN1):c.1962_1981delinsAG (p.Asp654_Cys661delinsGluGly) rs1597574308
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.197A>G (p.Tyr66Cys) rs774371494
NM_000138.5(FBN1):c.1982G>A (p.Cys661Tyr) rs1060501086
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.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.201_203dup (p.Cys68dup) rs1555405664
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.2031T>A (p.Ala677=) rs762312642
NM_000138.5(FBN1):c.2034_2052del (p.Thr679fs)
NM_000138.5(FBN1):c.203G>A (p.Cys68Tyr) rs1597633163
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>C (p.Cys685Arg) rs1597574236
NM_000138.5(FBN1):c.2054G>A (p.Cys685Tyr) rs1555399761
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.206_208del (p.Pro69_Gly70delinsArg) rs1555405660
NM_000138.5(FBN1):c.2080G>T (p.Glu694Ter) rs1060501024
NM_000138.5(FBN1):c.2091G>T (p.Gln697His) rs1555399752
NM_000138.5(FBN1):c.2113+1G>C rs1566913670
NM_000138.5(FBN1):c.2113+2T>C rs730880105
NM_000138.5(FBN1):c.2114-1G>C rs1555399484
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.2130dup (p.Cys711fs) rs1597571391
NM_000138.5(FBN1):c.2147G>A (p.Gly716Glu) rs794728185
NM_000138.5(FBN1):c.2167G>T (p.Asp723Tyr) rs1555399477
NM_000138.5(FBN1):c.2168A>C (p.Asp723Ala) rs137854463
NM_000138.5(FBN1):c.2176del (p.Glu726fs) rs1555399385
NM_000138.5(FBN1):c.2186del (p.Leu729fs) rs193922187
NM_000138.5(FBN1):c.2207A>G (p.Asn736Ser) rs1566912242
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>G (p.Glu740Gly) rs2043616665
NM_000138.5(FBN1):c.2237A>G (p.Tyr746Cys) rs1555399372
NM_000138.5(FBN1):c.223C>T (p.Pro75Ser) rs886051252
NM_000138.5(FBN1):c.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.2248T>C (p.Cys750Arg) rs1555399368
NM_000138.5(FBN1):c.2258G>T (p.Gly753Val) rs1555399365
NM_000138.5(FBN1):c.2261A>G (p.Tyr754Cys) rs137854479
NM_000138.5(FBN1):c.2269del (p.Asp757fs) rs1064793636
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.2294-1G>C
NM_000138.5(FBN1):c.2294-2A>G
NM_000138.5(FBN1):c.2298_2301del (p.Ile766fs) rs1555399281
NM_000138.5(FBN1):c.229G>A (p.Gly77Arg) rs794728290
NM_000138.5(FBN1):c.2305T>C (p.Cys769Arg) rs1060501022
NM_000138.5(FBN1):c.2306G>A (p.Cys769Tyr) rs794728190
NM_000138.5(FBN1):c.2307T>G (p.Cys769Trp) rs2141305134
NM_000138.5(FBN1):c.2327G>A (p.Cys776Tyr) rs1555399273
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.2342G>A (p.Cys781Tyr) rs1555399271
NM_000138.5(FBN1):c.2342del (p.Cys781fs)
NM_000138.5(FBN1):c.2354C>A (p.Pro785His) rs956678986
NM_000138.5(FBN1):c.2356G>A (p.Gly786Arg)
NM_000138.5(FBN1):c.2364dup (p.Val789fs)
NM_000138.5(FBN1):c.2368T>A (p.Cys790Ser) 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.2374T>C (p.Cys792Arg) rs2141305039
NM_000138.5(FBN1):c.2384G>T (p.Gly795Val) rs1555399267
NM_000138.5(FBN1):c.238T>G (p.Cys80Gly) rs111764111
NM_000138.5(FBN1):c.239G>A (p.Cys80Tyr) rs397515767
NM_000138.5(FBN1):c.23_34del (p.Glu8_Leu11del)
NM_000138.5(FBN1):c.2407A>T (p.Lys803Ter) rs397515768
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.2415T>G (p.Cys805Trp) rs1597569551
NM_000138.5(FBN1):c.2419+1G>A rs1555399257
NM_000138.5(FBN1):c.2419+2T>G rs1597569536
NM_000138.5(FBN1):c.2420-1G>T rs1555399214
NM_000138.5(FBN1):c.2426A>G (p.Asp809Gly) rs1555399211
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.2446T>C (p.Cys816Arg) rs1555399206
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.2467_2468insG (p.Asn823fs) rs1555399204
NM_000138.5(FBN1):c.247+1G>A rs25404
NM_000138.5(FBN1):c.247+1G>T rs25404
NM_000138.5(FBN1):c.247+2dup rs397515772
NM_000138.5(FBN1):c.247+4del
NM_000138.5(FBN1):c.2474del (p.Pro825fs) rs1555399202
NM_000138.5(FBN1):c.2477G>A (p.Gly826Asp) rs1555399200
NM_000138.5(FBN1):c.2479T>C (p.Ser827Pro) rs193922189
NM_000138.5(FBN1):c.248-3C>G rs1555405537
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.2495G>A (p.Cys832Tyr) rs397515775
NM_000138.5(FBN1):c.2496T>G (p.Cys832Trp) rs397515776
NM_000138.5(FBN1):c.2502_2513del (p.Glu835_Leu838del) rs1555399195
NM_000138.5(FBN1):c.2506del (p.Ser836fs) rs1566911709
NM_000138.5(FBN1):c.2521A>T (p.Thr841Ser) rs1381506466
NM_000138.5(FBN1):c.2529del (p.Ile844fs) rs1555399193
NM_000138.5(FBN1):c.2539+2T>G rs1597569159
NM_000138.5(FBN1):c.2542A>C (p.Thr848Pro) rs193922191
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)
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.2562G>A (p.Trp854Ter) rs1555399164
NM_000138.5(FBN1):c.2563C>T (p.Gln855Ter) rs1057519502
NM_000138.5(FBN1):c.2581C>T (p.Arg861Ter) rs140583
NM_000138.5(FBN1):c.2585G>A (p.Cys862Tyr) rs1555399162
NM_000138.5(FBN1):c.2586dup (p.Glu863Ter) rs1555399160
NM_000138.5(FBN1):c.2624G>A (p.Cys875Tyr) rs886039038
NM_000138.5(FBN1):c.2627G>A (p.Cys876Tyr) rs794728193
NM_000138.5(FBN1):c.2627G>T (p.Cys876Phe) rs794728193
NM_000138.5(FBN1):c.2629_2645dup (p.Trp883fs)
NM_000138.5(FBN1):c.2631del (p.Ser878fs) rs2141303607
NM_000138.5(FBN1):c.2638G>A (p.Gly880Ser) rs794728194
NM_000138.5(FBN1):c.2638G>T (p.Gly880Cys) rs794728194
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val) rs794728195
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>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.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.2677G>A (p.Asp893Asn) rs193922193
NM_000138.5(FBN1):c.2677G>C (p.Asp893His) rs193922193
NM_000138.5(FBN1):c.2678-15C>A rs181681840
NM_000138.5(FBN1):c.2678-2A>G rs1555399101
NM_000138.5(FBN1):c.2678-6T>G rs1555399102
NM_000138.5(FBN1):c.2682del (p.Ile895fs) rs193922194
NM_000138.5(FBN1):c.268_269delinsC (p.Gly90fs) rs397515778
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.2696_2697dup (p.Tyr900fs) rs2141302411
NM_000138.5(FBN1):c.2698_2699insGG (p.Tyr900fs) rs1555399093
NM_000138.5(FBN1):c.2714del (p.Gly905fs) rs1555399089
NM_000138.5(FBN1):c.2722T>C (p.Cys908Arg) rs1060501021
NM_000138.5(FBN1):c.2723G>T (p.Cys908Phe) rs1057523406
NM_000138.5(FBN1):c.2729-2A>G rs113813525
NM_000138.5(FBN1):c.2729A>T (p.Asp910Val) rs1284769637
NM_000138.5(FBN1):c.2737G>T (p.Glu913Ter) rs1555398996
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.2741G>A (p.Cys914Tyr) rs2141300503
NM_000138.5(FBN1):c.274G>A (p.Gly92Arg) rs2140734026
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.2764_2780del (p.Cys921_Lys922insTer) rs1555398988
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.2792G>T (p.Gly931Val) rs200078617
NM_000138.5(FBN1):c.2793del (p.Ser932fs) rs778900586
NM_000138.5(FBN1):c.2808_2810del (p.Gln936_Cys937delinsHis) rs1555398981
NM_000138.5(FBN1):c.2813C>T (p.Pro938Leu) rs758257941
NM_000138.5(FBN1):c.281G>T (p.Cys94Phe) rs730880098
NM_000138.5(FBN1):c.2830del (p.Asp944fs)
NM_000138.5(FBN1):c.2833del (p.Ala945fs) rs397515781
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.2854G>C (p.Asp952His) rs2141300251
NM_000138.5(FBN1):c.2855-1G>A rs112202622
NM_000138.5(FBN1):c.2855-1G>C rs112202622
NM_000138.5(FBN1):c.2855-2A>G rs2141297577
NM_000138.5(FBN1):c.2855-8T>C rs193922195
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>T (p.Arg954Leu) rs112911555
NM_000138.5(FBN1):c.2875_2908dup (p.Pro970fs) rs2141297440
NM_000138.5(FBN1):c.2876T>C (p.Phe959Ser)
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.2893G>A (p.Glu965Lys) rs748905831
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.2913del (p.Ile971fs) rs1555398826
NM_000138.5(FBN1):c.2929A>G (p.Met977Val) rs776833421
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.2948_2970del (p.Cys982_Ser983insTer) rs1555398811
NM_000138.5(FBN1):c.2953G>A (p.Gly985Arg) rs794728199
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.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.3002C>A (p.Thr1001Asn)
NM_000138.5(FBN1):c.3007G>T (p.Glu1003Ter)
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.3022T>C (p.Cys1008Arg) rs1555398793
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.304T>C (p.Cys102Arg) rs1566937712
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.3065G>A (p.Gly1022Glu) rs1597565278
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+9T>G rs746303949
NM_000138.5(FBN1):c.3083-1G>C rs2141295345
NM_000138.5(FBN1):c.3083A>G (p.Asp1028Gly) rs1131691317
NM_000138.5(FBN1):c.3096C>A (p.Cys1032Ter) rs1597564359
NM_000138.5(FBN1):c.3115T>C (p.Cys1039Arg)
NM_000138.5(FBN1):c.3124G>A (p.Gly1042Ser) rs1555398681
NM_000138.5(FBN1):c.3126del (p.Lys1043fs)
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.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.3144del (p.Ile1048fs) rs1555398672
NM_000138.5(FBN1):c.3146G>A (p.Gly1049Asp) rs1555398670
NM_000138.5(FBN1):c.3149G>T (p.Ser1050Ile) rs987202268
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.3159C>G (p.Cys1053Trp) rs886039054
NM_000138.5(FBN1):c.3164G>A (p.Cys1055Tyr) rs397515786
NM_000138.5(FBN1):c.3165T>G (p.Cys1055Trp) rs1060501040
NM_000138.5(FBN1):c.3166del (p.Asp1056fs) rs1060501013
NM_000138.5(FBN1):c.3192del (p.Glu1065fs) rs1131692050
NM_000138.5(FBN1):c.3193del (p.Glu1065fs) rs193922198
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.3208+5G>A rs1555398657
NM_000138.5(FBN1):c.3209-7T>A rs1459153455
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.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.3224G>A (p.Arg1075His) rs369745372
NM_000138.5(FBN1):c.3228_3232dup (p.Pro1078fs) rs2141294789
NM_000138.5(FBN1):c.3235_3239del (p.Asp1079fs) rs1555398642
NM_000138.5(FBN1):c.3256T>C (p.Cys1086Arg) rs1555398637
NM_000138.5(FBN1):c.3263A>G (p.Asn1088Ser) rs1555398635
NM_000138.5(FBN1):c.3268C>T (p.Pro1090Ser) rs1555398633
NM_000138.5(FBN1):c.3274del (p.Asp1092fs) rs397515788
NM_000138.5(FBN1):c.3284G>C (p.Cys1095Ser) rs1597563934
NM_000138.5(FBN1):c.3290G>A (p.Cys1097Tyr) rs1555398627
NM_000138.5(FBN1):c.3297A>T (p.Glu1099Asp) rs1555398626
NM_000138.5(FBN1):c.3299G>C (p.Gly1100Ala) rs112547596
NM_000138.5(FBN1):c.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.3320_3323dup (p.Met1108fs) rs1555398622
NM_000138.5(FBN1):c.3332G>A (p.Cys1111Tyr) rs1566909766
NM_000138.5(FBN1):c.3337+1G>A rs397515789
NM_000138.5(FBN1):c.3338-2A>G rs2141293812
NM_000138.5(FBN1):c.3338A>G (p.Asp1113Gly) rs140597
NM_000138.5(FBN1):c.3346G>A (p.Glu1116Lys) rs1555398582
NM_000138.5(FBN1):c.3347_3348del (p.Glu1116fs) rs1555398580
NM_000138.5(FBN1):c.3350G>A (p.Cys1117Tyr) rs137854470
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.3372_3376del (p.Cys1124fs) rs1597563280
NM_000138.5(FBN1):c.3373C>T (p.Arg1125Ter) rs727505006
NM_000138.5(FBN1):c.3375dup (p.Gly1126fs) rs1597563287
NM_000138.5(FBN1):c.3382G>C (p.Val1128Leu) rs1555398573
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.3392A>G (p.Asn1131Ser) rs397515790
NM_000138.5(FBN1):c.3395_3396del (p.Thr1132fs) rs2141293662
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.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>T (p.Cys1140Phe) rs1060501075
NM_000138.5(FBN1):c.3428G>A (p.Gly1143Asp) rs1163486953
NM_000138.5(FBN1):c.3444del (p.Asn1149fs) rs1555398551
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)
NM_000138.5(FBN1):c.3463+1G>T rs397515792
NM_000138.5(FBN1):c.3464-16_3464-14del rs775944757
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.3508C>T (p.Arg1170Cys) rs1366894709
NM_000138.5(FBN1):c.3508del (p.Arg1170fs) rs2141293265
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.3518A>C (p.Asn1173Thr) rs1555398520
NM_000138.5(FBN1):c.3533A>G (p.Tyr1178Cys) rs1555398515
NM_000138.5(FBN1):c.3535C>T (p.Gln1179Ter) rs1364210063
NM_000138.5(FBN1):c.3539G>A (p.Cys1180Tyr) rs1555398513
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.3558C>G (p.Tyr1186Ter) rs1555398510
NM_000138.5(FBN1):c.3559dup (p.His1187fs) rs1555398508
NM_000138.5(FBN1):c.3574A>G (p.Arg1192Gly) rs2043513994
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+3A>G rs2043513649
NM_000138.5(FBN1):c.3589G>C (p.Asp1197His) rs397515793
NM_000138.5(FBN1):c.3590A>G (p.Asp1197Gly) rs112025387
NM_000138.5(FBN1):c.3596A>G (p.Asp1199Gly) rs794728206
NM_000138.5(FBN1):c.3599A>T (p.Glu1200Val) rs1566908956
NM_000138.5(FBN1):c.3602G>A (p.Cys1201Tyr) rs1555398413
NM_000138.5(FBN1):c.3603C>A (p.Cys1201Ter)
NM_000138.5(FBN1):c.3617G>A (p.Gly1206Asp) rs1555398409
NM_000138.5(FBN1):c.3623G>T (p.Cys1208Phe) rs1555398406
NM_000138.5(FBN1):c.3623del (p.Cys1208fs) rs1555398407
NM_000138.5(FBN1):c.3632_3634del (p.Phe1211del) rs1555398404
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.364C>T (p.Arg122Cys) rs137854467
NM_000138.5(FBN1):c.3650G>A (p.Gly1217Asp) rs1555398397
NM_000138.5(FBN1):c.3656A>G (p.Tyr1219Cys) rs1555398394
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.368G>A (p.Cys123Tyr) rs397515794
NM_000138.5(FBN1):c.3703T>C (p.Ser1235Pro) rs1555398382
NM_000138.5(FBN1):c.3706T>C (p.Cys1236Arg) rs1555398380
NM_000138.5(FBN1):c.3707G>A (p.Cys1236Tyr) rs1555398377
NM_000138.5(FBN1):c.3712+9G>T rs769251450
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn) rs794728208
NM_000138.5(FBN1):c.3725G>A (p.Cys1242Tyr) rs137854471
NM_000138.5(FBN1):c.3726T>G (p.Cys1242Trp)
NM_000138.5(FBN1):c.372G>A (p.Met124Ile) rs1555405050
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.3757C>T (p.Gln1253Ter) rs1131691311
NM_000138.5(FBN1):c.3759del (p.Gln1253fs) rs1555398287
NM_000138.5(FBN1):c.376G>T (p.Gly126Ter) rs1597625734
NM_000138.5(FBN1):c.3783del (p.Glu1260_Tyr1261insTer) rs1555398282
NM_000138.5(FBN1):c.3793T>C (p.Cys1265Arg) rs137854474
NM_000138.5(FBN1):c.3794G>A (p.Cys1265Tyr)
NM_000138.5(FBN1):c.3795T>A (p.Cys1265Ter) rs1555398278
NM_000138.5(FBN1):c.3815C>A (p.Ser1272Tyr) rs1555398270
NM_000138.5(FBN1):c.3838+3A>T rs1555398265
NM_000138.5(FBN1):c.3838G>A (p.Asp1280Asn) rs794728210
NM_000138.5(FBN1):c.3839A>T (p.Asp1280Val) rs1555398179
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.3849del (p.Glu1283fs) rs1555398174
NM_000138.5(FBN1):c.3851G>A (p.Cys1284Tyr) rs1555398173
NM_000138.5(FBN1):c.385T>G (p.Cys129Gly) rs199474693
NM_000138.5(FBN1):c.3871del (p.Cys1291fs) rs2141287465
NM_000138.5(FBN1):c.3886T>C (p.Cys1296Arg) rs397515797
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.390del (p.Ser130fs) rs1555405045
NM_000138.5(FBN1):c.3915C>A (p.Cys1305Ter) rs1555398152
NM_000138.5(FBN1):c.3921T>G (p.Cys1307Trp) rs2043466446
NM_000138.5(FBN1):c.3932A>G (p.Tyr1311Cys) rs1555398148
NM_000138.5(FBN1):c.3945del (p.Gly1316fs) rs1555398144
NM_000138.5(FBN1):c.3947_3948delinsT (p.Gly1316fs) rs1555398139
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.3963A>G (p.Thr1321=) rs140648
NM_000138.5(FBN1):c.3964G>T (p.Asp1322Tyr)
NM_000138.5(FBN1):c.3965A>G (p.Asp1322Gly) rs1555397744
NM_000138.5(FBN1):c.3973dup (p.Glu1325fs) rs1555397743
NM_000138.5(FBN1):c.3974A>C (p.Glu1325Ala) rs794728331
NM_000138.5(FBN1):c.3977G>A (p.Cys1326Tyr) rs1555397738
NM_000138.5(FBN1):c.3993del (p.His1331fs) rs1555397736
NM_000138.5(FBN1):c.4007_4010del (p.His1336fs)
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.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.4022A>G (p.Asn1341Ser) rs140638
NM_000138.5(FBN1):c.4032_4033del (p.Ser1345fs) rs1555397723
NM_000138.5(FBN1):c.4036T>G (p.Phe1346Val) rs1566906537
NM_000138.5(FBN1):c.4043G>A (p.Cys1348Tyr) rs1555397720
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.4056del (p.Trp1354fs) rs1555397713
NM_000138.5(FBN1):c.4061G>A (p.Trp1354Ter) rs1060501039
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.4081T>C (p.Cys1361Arg) rs1566906506
NM_000138.5(FBN1):c.4082G>A (p.Cys1361Tyr) rs1555397704
NM_000138.5(FBN1):c.4085C>G (p.Thr1362Ser)
NM_000138.5(FBN1):c.4087+1G>A rs387906548
NM_000138.5(FBN1):c.4087+5G>A rs1555397692
NM_000138.5(FBN1):c.4088-2A>C rs1555397671
NM_000138.5(FBN1):c.408C>A (p.Cys136Ter) rs1555405039
NM_000138.5(FBN1):c.4096G>A (p.Glu1366Lys) rs763449629
NM_000138.5(FBN1):c.4099T>C (p.Cys1367Arg) rs1555397670
NM_000138.5(FBN1):c.4100G>A (p.Cys1367Tyr) rs2141279869
NM_000138.5(FBN1):c.4111A>G (p.Thr1371Ala)
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.4125C>G (p.Ser1375Arg) rs1555397666
NM_000138.5(FBN1):c.4145A>T (p.Asn1382Ile) rs1555397661
NM_000138.5(FBN1):c.4145dup (p.Asn1382fs) rs1555397663
NM_000138.5(FBN1):c.4149_4154del (p.Met1384_Gly1385del)
NM_000138.5(FBN1):c.4151T>C (p.Met1384Thr) rs1555397658
NM_000138.5(FBN1):c.4160A>G (p.Tyr1387Cys) rs397515801
NM_000138.5(FBN1):c.4163G>T (p.Arg1388Leu) rs749196340
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.4168_4171del (p.Leu1390fs) rs1555397655
NM_000138.5(FBN1):c.4183T>C (p.Tyr1395His) rs1555397653
NM_000138.5(FBN1):c.4192G>A (p.Asp1398Asn) rs1597553721
NM_000138.5(FBN1):c.4196_4197insA (p.Phe1400fs)
NM_000138.5(FBN1):c.4197del (p.Phe1400fs) rs869025421
NM_000138.5(FBN1):c.4204T>G (p.Cys1402Gly) rs2141279646
NM_000138.5(FBN1):c.4210+11G>A rs148057138
NM_000138.5(FBN1):c.4210+1G>A rs730880106
NM_000138.5(FBN1):c.425G>A (p.Gly142Glu) rs1555405036
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.4337A>G (p.Asp1446Gly) rs397515806
NM_000138.5(FBN1):c.4337A>T (p.Asp1446Val) rs397515806
NM_000138.5(FBN1):c.433T>G (p.Cys145Gly) rs1555405031
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.4349G>A (p.Cys1450Tyr) rs1555397419
NM_000138.5(FBN1):c.4349G>T (p.Cys1450Phe) rs1555397419
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.4369_4370del (p.Val1457fs) rs1060501043
NM_000138.5(FBN1):c.4389C>A (p.Asn1463Lys) rs1555397412
NM_000138.5(FBN1):c.439C>T (p.Gln147Ter) rs886039036
NM_000138.5(FBN1):c.4405del (p.Arg1469fs) rs794728308
NM_000138.5(FBN1):c.4406G>C (p.Arg1469Pro) rs397515808
NM_000138.5(FBN1):c.4407_4409dup (p.Cys1470dup) rs1555397404
NM_000138.5(FBN1):c.4409G>A (p.Cys1470Tyr) rs2043365537
NM_000138.5(FBN1):c.4414T>C (p.Cys1472Arg) rs1555397403
NM_000138.5(FBN1):c.4429G>A (p.Glu1477Lys) rs869025407
NM_000138.5(FBN1):c.443-15C>A rs2044516377
NM_000138.5(FBN1):c.443del (p.Pro148fs) rs1555404820
NM_000138.5(FBN1):c.4453T>C (p.Cys1485Arg) rs730880101
NM_000138.5(FBN1):c.4454G>A (p.Cys1485Tyr) rs111978932
NM_000138.5(FBN1):c.4459G>A (p.Asp1487Asn) rs113693945
NM_000138.5(FBN1):c.4460-1G>C rs113082854
NM_000138.5(FBN1):c.4460A>C (p.Asp1487Ala) rs1555397216
NM_000138.5(FBN1):c.4460A>G (p.Asp1487Gly) rs1555397216
NM_000138.5(FBN1):c.4466A>G (p.Asn1489Ser) rs1057518501
NM_000138.5(FBN1):c.4467T>A (p.Asn1489Lys) rs193922205
NM_000138.5(FBN1):c.4468G>A (p.Glu1490Lys) rs1060501076
NM_000138.5(FBN1):c.4474del (p.Leu1492fs) rs1555397214
NM_000138.5(FBN1):c.4489T>A (p.Cys1497Ser) rs1555397213
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>G (p.Cys1497Trp) rs2043341481
NM_000138.5(FBN1):c.44T>G (p.Val15Gly) rs2140787791
NM_000138.5(FBN1):c.4501_4511del (p.Asn1501fs) rs1555397210
NM_000138.5(FBN1):c.4505G>A (p.Cys1502Tyr) rs397515810
NM_000138.5(FBN1):c.4511A>G (p.Asn1504Ser) rs1555397209
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.4526A>G (p.Tyr1509Cys) rs730880102
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.4538G>A (p.Cys1513Tyr) rs1555397204
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.454A>T (p.Ser152Cys) rs193922206
NM_000138.5(FBN1):c.4567C>T (p.Arg1523Ter) rs397515812
NM_000138.5(FBN1):c.4577G>T (p.Cys1526Phe)
NM_000138.5(FBN1):c.4579_4580del (p.Cys1526_Val1527insTer) rs1555397197
NM_000138.5(FBN1):c.4582+1G>A rs1555397195
NM_000138.5(FBN1):c.4582+2T>G rs1555397193
NM_000138.5(FBN1):c.4582+5G>C rs140633
NM_000138.5(FBN1):c.4583-1G>A rs1555397176
NM_000138.5(FBN1):c.4583-5A>G rs778966916
NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys) rs111401431
NM_000138.5(FBN1):c.4589G>C (p.Arg1530Pro) rs778710767
NM_000138.5(FBN1):c.458del (p.Gly153fs)
NM_000138.5(FBN1):c.4602C>G (p.Cys1534Trp) rs1555397174
NM_000138.5(FBN1):c.4615C>T (p.Arg1539Ter) rs111231312
NM_000138.5(FBN1):c.4621C>T (p.Arg1541Ter) rs794728228
NM_000138.5(FBN1):c.4629del (p.Asp1543fs) rs2043337738
NM_000138.5(FBN1):c.4649del (p.Ser1550fs) rs1597548716
NM_000138.5(FBN1):c.4657_4658del (p.Ile1553fs)
NM_000138.5(FBN1):c.4665_4668del (p.Gly1556fs) rs1555397160
NM_000138.5(FBN1):c.4679C>T (p.Ala1560Val)
NM_000138.5(FBN1):c.4684T>A (p.Cys1562Ser) rs193922207
NM_000138.5(FBN1):c.4687T>A (p.Cys1563Ser) rs1597548672
NM_000138.5(FBN1):c.4690_4691insTGTT (p.Cys1564fs) rs2141272337
NM_000138.5(FBN1):c.4700del (p.Gly1567fs) rs1566904526
NM_000138.5(FBN1):c.4704A>G (p.Lys1568=) rs193922208
NM_000138.5(FBN1):c.4710G>A (p.Trp1570Ter) rs267606799
NM_000138.5(FBN1):c.473del (p.Gly158fs) rs2140711733
NM_000138.5(FBN1):c.4747+5G>C rs193922209
NM_000138.5(FBN1):c.4748-3T>G rs770762644
NM_000138.5(FBN1):c.4766G>T (p.Cys1589Phe) rs1555397024
NM_000138.5(FBN1):c.4770_4771del (p.Gly1591fs) rs1555397022
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>C (p.Arg1596Pro) rs769588424
NM_000138.5(FBN1):c.478T>C (p.Cys160Arg) rs1057518973
NM_000138.5(FBN1):c.4795C>A (p.Pro1599Thr) rs1555397018
NM_000138.5(FBN1):c.479G>A (p.Cys160Tyr) rs1555404810
NM_000138.5(FBN1):c.4813del (p.Glu1605fs) rs1555397016
NM_000138.5(FBN1):c.4815A>G (p.Glu1605=) rs869025408
NM_000138.5(FBN1):c.4816+1G>T rs1555397014
NM_000138.5(FBN1):c.4817-1_4819del rs2141269777
NM_000138.5(FBN1):c.4817-22_4817-14delinsAGCC
NM_000138.5(FBN1):c.4878del (p.Phe1626fs) rs2043314537
NM_000138.5(FBN1):c.4888C>T (p.Gln1630Ter) rs794728231
NM_000138.5(FBN1):c.488del (p.Pro163fs) rs1555404806
NM_000138.5(FBN1):c.4898G>A (p.Cys1633Tyr) rs1555396993
NM_000138.5(FBN1):c.4914C>A (p.Tyr1638Ter) rs1555396991
NM_000138.5(FBN1):c.4926_4927del (p.Arg1644fs) rs1555396990
NM_000138.5(FBN1):c.4930C>T (p.Arg1644Ter) rs140630
NM_000138.5(FBN1):c.4935G>A (p.Val1645=) rs886038897
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.4942+4A>G rs397515815
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.4943-1G>A rs1555396863
NM_000138.5(FBN1):c.4943-1G>C rs1555396863
NM_000138.5(FBN1):c.4955G>A (p.Cys1652Tyr) rs397515817
NM_000138.5(FBN1):c.4955G>C (p.Cys1652Ser)
NM_000138.5(FBN1):c.496T>C (p.Cys166Arg) rs363852
NM_000138.5(FBN1):c.4974_4975del (p.Cys1658fs) rs1555396858
NM_000138.5(FBN1):c.497G>C (p.Cys166Ser) rs397515818
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.4998C>T (p.Thr1666=) rs141925790
NM_000138.5(FBN1):c.5013_5031del (p.Cys1672fs)
NM_000138.5(FBN1):c.5015G>C (p.Cys1672Ser) rs140627
NM_000138.5(FBN1):c.5016dup (p.Ile1673fs) rs869025426
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.502T>G (p.Cys168Gly) rs2044515247
NM_000138.5(FBN1):c.503G>T (p.Cys168Phe) rs1555404803
NM_000138.5(FBN1):c.504C>G (p.Cys168Trp) rs200295020
NM_000138.5(FBN1):c.5057del (p.Asn1686fs) rs1597545836
NM_000138.5(FBN1):c.5060G>T (p.Cys1687Phe)
NM_000138.5(FBN1):c.5061C>A (p.Cys1687Ter) rs1555396838
NM_000138.5(FBN1):c.5065+1G>C rs1296209846
NM_000138.5(FBN1):c.5065+1G>T rs1296209846
NM_000138.5(FBN1):c.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.5066del (p.Asp1689fs) rs727504347
NM_000138.5(FBN1):c.5073AAG[1] (p.Arg1692del) rs1555396789
NM_000138.5(FBN1):c.5083T>G (p.Cys1695Gly) rs1597545345
NM_000138.5(FBN1):c.5087A>G (p.Tyr1696Cys) rs387906625
NM_000138.5(FBN1):c.5093del (p.Asn1698fs) rs1597545309
NM_000138.5(FBN1):c.5094del (p.Tyr1699fs) rs1060501031
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.5125G>T (p.Glu1709Ter) rs1597545257
NM_000138.5(FBN1):c.5156G>A (p.Cys1719Tyr) rs1555396769
NM_000138.5(FBN1):c.5179del (p.Arg1727fs) rs1555396765
NM_000138.5(FBN1):c.5187G>A (p.Trp1729Ter) rs1597545199
NM_000138.5(FBN1):c.5196del (p.Cys1733fs) rs2043292041
NM_000138.5(FBN1):c.5208T>A (p.Cys1736Ter) rs794728234
NM_000138.5(FBN1):c.5213_5217del (p.Ile1738fs) rs1555396757
NM_000138.5(FBN1):c.5225-2A>C rs1555396639
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.5251C>T (p.Gln1751Ter) rs397515820
NM_000138.5(FBN1):c.5267T>C (p.Val1756Ala)
NM_000138.5(FBN1):c.5277T>G (p.Ile1759Met)
NM_000138.5(FBN1):c.5280T>A (p.Tyr1760Ter) rs730880103
NM_000138.5(FBN1):c.5296+1G>C rs1555396630
NM_000138.5(FBN1):c.5296+6T>C rs1555396629
NM_000138.5(FBN1):c.5297-1G>A rs1555396435
NM_000138.5(FBN1):c.529T>C (p.Cys177Arg) rs363853
NM_000138.5(FBN1):c.531dup (p.Glu178Ter) rs1555404800
NM_000138.5(FBN1):c.5329T>C (p.Cys1777Arg) rs1597540907
NM_000138.5(FBN1):c.5330G>A (p.Cys1777Tyr) rs1060501069
NM_000138.5(FBN1):c.5345G>A (p.Cys1782Tyr) rs1555396429
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.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.5378G>A (p.Cys1793Tyr) rs1597540854
NM_000138.5(FBN1):c.538+2T>C rs1555404799
NM_000138.5(FBN1):c.5405A>G (p.Lys1802Arg) rs886051248
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.5422+1del rs2141260277
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.5431G>A (p.Glu1811Lys) rs761857514
NM_000138.5(FBN1):c.5431G>T (p.Glu1811Ter) rs761857514
NM_000138.5(FBN1):c.5435G>A (p.Cys1812Tyr) rs1555396213
NM_000138.5(FBN1):c.5437C>T (p.Gln1813Ter) rs397515821
NM_000138.5(FBN1):c.543C>G (p.Tyr181Ter) rs1597593852
NM_000138.5(FBN1):c.5444del (p.Gly1815fs) rs2141256088
NM_000138.5(FBN1):c.5467_5474dup (p.Ile1825fs) rs2141256027
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.5493C>A (p.Tyr1831Ter) rs1555396201
NM_000138.5(FBN1):c.5493C>G (p.Tyr1831Ter) rs1555396201
NM_000138.5(FBN1):c.5498G>A (p.Cys1833Tyr) rs1597537815
NM_000138.5(FBN1):c.5499dup (p.Asp1834Ter) rs1555396199
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.5504G>A (p.Cys1835Tyr) rs111929350
NM_000138.5(FBN1):c.5504G>T (p.Cys1835Phe) rs111929350
NM_000138.5(FBN1):c.5512G>T (p.Gly1838Cys) rs397515823
NM_000138.5(FBN1):c.5520del (p.Phe1841fs) rs1555396188
NM_000138.5(FBN1):c.5539T>C (p.Cys1847Arg) rs1555396186
NM_000138.5(FBN1):c.5545+12C>T rs193922213
NM_000138.5(FBN1):c.5545+1G>A rs1260109901
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.5557T>A (p.Cys1853Ser) 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.5577dup (p.Cys1860fs)
NM_000138.5(FBN1):c.5581A>C (p.Ser1861Arg) rs2141252219
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.5593T>C (p.Cys1865Arg) rs1555395984
NM_000138.5(FBN1):c.5612_5613del (p.Ser1871fs) rs1555395981
NM_000138.5(FBN1):c.561del (p.Phe187fs) rs397515825
NM_000138.5(FBN1):c.5621G>T (p.Cys1874Phe) rs2141252159
NM_000138.5(FBN1):c.5626T>C (p.Cys1876Arg) rs1555395980
NM_000138.5(FBN1):c.5627G>C (p.Cys1876Ser) rs112728248
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.5671G>A (p.Asp1891Asn) rs193922216
NM_000138.5(FBN1):c.5671G>C (p.Asp1891His) rs193922216
NM_000138.5(FBN1):c.5672-1G>A rs1555395849
NM_000138.5(FBN1):c.5672-3T>C rs193922217
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.5683T>C (p.Cys1895Arg) rs878853686
NM_000138.5(FBN1):c.5684del (p.Cys1895fs) rs1555395846
NM_000138.5(FBN1):c.5688_5689del (p.Asp1898fs) rs1555395843
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.5714G>C (p.Cys1905Ser) rs112655848
NM_000138.5(FBN1):c.5719A>G (p.Asn1907Asp) rs397515824
NM_000138.5(FBN1):c.5721C>G (p.Asn1907Lys) rs397515826
NM_000138.5(FBN1):c.5722A>C (p.Thr1908Pro) rs1555395834
NM_000138.5(FBN1):c.5726T>C (p.Ile1909Thr) rs794728333
NM_000138.5(FBN1):c.5734_5736del (p.Phe1912del)
NM_000138.5(FBN1):c.5735T>C (p.Phe1912Ser) rs1555395830
NM_000138.5(FBN1):c.5741G>A (p.Cys1914Tyr)
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.5747G>A (p.Cys1916Tyr) rs397515827
NM_000138.5(FBN1):c.577del (p.Gln193fs) rs1555401697
NM_000138.5(FBN1):c.5783G>A (p.Cys1928Tyr) rs587782947
NM_000138.5(FBN1):c.5783G>T (p.Cys1928Phe) rs587782947
NM_000138.5(FBN1):c.5788+1G>A rs1555395819
NM_000138.5(FBN1):c.5788+1G>T rs1555395819
NM_000138.5(FBN1):c.5788+36C>A rs1555395814
NM_000138.5(FBN1):c.5788+4C>A rs577301285
NM_000138.5(FBN1):c.5788+5G>T rs193922219
NM_000138.5(FBN1):c.5788G>A (p.Asp1930Asn) rs1555395820
NM_000138.5(FBN1):c.5788G>T (p.Asp1930Tyr) rs1555395820
NM_000138.5(FBN1):c.5795A>C (p.Asp1932Ala) rs1329934461
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.5806A>G (p.Ser1936Gly) rs869025409
NM_000138.5(FBN1):c.5809G>T (p.Gly1937Ter) rs1555395766
NM_000138.5(FBN1):c.5823_5824del (p.Cys1942fs) rs1060501089
NM_000138.5(FBN1):c.5826C>A (p.Cys1942Ter) rs363806
NM_000138.5(FBN1):c.5834G>A (p.Gly1945Asp) rs1555395760
NM_000138.5(FBN1):c.5839T>C (p.Cys1947Arg) rs1131691938
NM_000138.5(FBN1):c.5840G>A (p.Cys1947Tyr) rs397515828
NM_000138.5(FBN1):c.5855G>T (p.Gly1952Val) rs2141249218
NM_000138.5(FBN1):c.5857dup (p.Ser1953fs) rs1555395757
NM_000138.5(FBN1):c.5861T>G (p.Phe1954Cys) rs730880104
NM_000138.5(FBN1):c.5861del (p.Phe1954fs) rs1555395756
NM_000138.5(FBN1):c.5863C>T (p.Gln1955Ter) rs363807
NM_000138.5(FBN1):c.5863del (p.Gln1955fs) rs1555395753
NM_000138.5(FBN1):c.5869C>T (p.Gln1957Ter) rs397515829
NM_000138.5(FBN1):c.5885A>G (p.Tyr1962Cys) rs1346043320
NM_000138.5(FBN1):c.5885dup (p.Tyr1962Ter)
NM_000138.5(FBN1):c.5888del (p.Glu1963fs) rs727504315
NM_000138.5(FBN1):c.5898del (p.Asp1967fs) rs1555395747
NM_000138.5(FBN1):c.589G>C (p.Gly197Arg) rs886051251
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.5917+1G>T rs363808
NM_000138.5(FBN1):c.5917+1_5917+11del rs2141249066
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.5918-2A>G rs869025418
NM_000138.5(FBN1):c.5919dup (p.Ile1974fs) rs1555395670
NM_000138.5(FBN1):c.5925T>A (p.Asn1975Lys)
NM_000138.5(FBN1):c.5927A>G (p.Glu1976Gly) rs1555395665
NM_000138.5(FBN1):c.5930G>A (p.Cys1977Tyr) rs1555395663
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.5956_5957insA (p.Pro1986fs) rs2141248130
NM_000138.5(FBN1):c.5961dup (p.Thr1988fs) rs1555395653
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.5983T>C (p.Ser1995Pro) rs1555395649
NM_000138.5(FBN1):c.5992T>A (p.Cys1998Ser) rs2141248056
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.6006_6012dup (p.Ser2005fs) rs193922220
NM_000138.5(FBN1):c.6012_6013del (p.Tyr2004_Ser2005delinsTer)
NM_000138.5(FBN1):c.6019C>T (p.Gln2007Ter) rs1555395641
NM_000138.5(FBN1):c.6032G>A (p.Cys2011Tyr) rs886038967
NM_000138.5(FBN1):c.6037G>C (p.Asp2013His) rs1555395638
NM_000138.5(FBN1):c.6038A>T (p.Asp2013Val) rs869025410
NM_000138.5(FBN1):c.6051T>G (p.Cys2017Trp) rs1566897420
NM_000138.5(FBN1):c.6064G>T (p.Glu2022Ter) rs1555395482
NM_000138.5(FBN1):c.6067del (p.Ile2023fs) rs1597529841
NM_000138.5(FBN1):c.6070dup (p.Cys2024fs) rs1597529829
NM_000138.5(FBN1):c.6079G>T (p.Gly2027Cys) rs1566897404
NM_000138.5(FBN1):c.6080del (p.Gly2027fs) rs1555395480
NM_000138.5(FBN1):c.6087C>G (p.Cys2029Trp) rs1555395475
NM_000138.5(FBN1):c.6113G>C (p.Cys2038Ser) rs363804
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.6149del (p.Gly2050fs) rs1597529686
NM_000138.5(FBN1):c.6151dup (p.Arg2051fs)
NM_000138.5(FBN1):c.6160C>T (p.Gln2054Ter) rs1555395456
NM_000138.5(FBN1):c.6164-1G>A rs1060501048
NM_000138.5(FBN1):c.6164-1G>C rs1060501048
NM_000138.5(FBN1):c.6169C>T (p.Arg2057Ter) rs763091520
NM_000138.5(FBN1):c.6180C>G (p.Tyr2060Ter) rs974604498
NM_000138.5(FBN1):c.6181T>C (p.Cys2061Arg) rs1555395267
NM_000138.5(FBN1):c.619dup (p.Thr207fs) rs1555401689
NM_000138.5(FBN1):c.6236C>G (p.Ser2079Cys) rs1555395263
NM_000138.5(FBN1):c.6244G>T (p.Glu2082Ter) rs1052480459
NM_000138.5(FBN1):c.6251G>A (p.Cys2084Tyr) rs794728245
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.6264G>C (p.Lys2088Asn) rs886051247
NM_000138.5(FBN1):c.626G>C (p.Cys209Ser) rs1555401687
NM_000138.5(FBN1):c.6274T>C (p.Trp2092Arg) rs794728246
NM_000138.5(FBN1):c.6289G>T (p.Glu2097Ter) rs397515831
NM_000138.5(FBN1):c.629G>A (p.Cys210Tyr) rs1085307468
NM_000138.5(FBN1):c.6313+2T>C rs1555395257
NM_000138.5(FBN1):c.6313+5G>C rs878853688
NM_000138.5(FBN1):c.6313G>A (p.Glu2105Lys) rs794728247
NM_000138.5(FBN1):c.6314-3del rs2141240967
NM_000138.5(FBN1):c.6314-7_6322del rs2141240946
NM_000138.5(FBN1):c.6320T>G (p.Phe2107Cys) rs1555395230
NM_000138.5(FBN1):c.6322C>T (p.Arg2108Cys) rs1246984265
NM_000138.5(FBN1):c.6325C>T (p.Gln2109Ter) rs1555395229
NM_000138.5(FBN1):c.6331T>C (p.Cys2111Arg) rs363815
NM_000138.5(FBN1):c.6332G>A (p.Cys2111Tyr) rs1131691467
NM_000138.5(FBN1):c.6339T>G (p.Tyr2113Ter) rs267606797
NM_000138.5(FBN1):c.6340G>T (p.Gly2114Ter)
NM_000138.5(FBN1):c.634A>C (p.Thr212Pro) rs1597593736
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.6357G>C (p.Val2119=) rs886051246
NM_000138.5(FBN1):c.6379+1G>A rs397515833
NM_000138.5(FBN1):c.6379+2T>G rs113453570
NM_000138.5(FBN1):c.6379+5G>A rs1085307875
NM_000138.5(FBN1):c.6379G>A (p.Asp2127Asn) rs1555395225
NM_000138.5(FBN1):c.6380-1G>T rs1597526073
NM_000138.5(FBN1):c.6380-2A>C rs886041482
NM_000138.5(FBN1):c.6380-83del rs193922222
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.6385G>T (p.Asp2129Tyr) rs193922223
NM_000138.5(FBN1):c.6386A>G (p.Asp2129Gly) 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.6391T>C (p.Cys2131Arg) rs1555395210
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.6414del (p.Lys2138fs) rs1555395205
NM_000138.5(FBN1):c.6419G>A (p.Gly2140Glu) rs1064793118
NM_000138.5(FBN1):c.6424T>A (p.Cys2142Ser) rs1555395203
NM_000138.5(FBN1):c.6425G>A (p.Cys2142Tyr) rs794728335
NM_000138.5(FBN1):c.6431A>G (p.Asn2144Ser) rs137854461
NM_000138.5(FBN1):c.643C>T (p.Arg215Ter) rs111687884
NM_000138.5(FBN1):c.6446A>G (p.Tyr2149Cys) rs113080385
NM_000138.5(FBN1):c.6453C>T (p.Cys2151=) rs794728251
NM_000138.5(FBN1):c.6483_6496+1del rs2141240279
NM_000138.5(FBN1):c.6491G>A (p.Cys2164Tyr) rs1555395189
NM_000138.5(FBN1):c.6496+1G>A 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.6497-1G>A
NM_000138.5(FBN1):c.649T>G (p.Trp217Gly) rs193922224
NM_000138.5(FBN1):c.6505G>T (p.Glu2169Ter)
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.6515_6516delinsG (p.Val2172fs) rs397515834
NM_000138.5(FBN1):c.6524del (p.Pro2175fs) rs1555395013
NM_000138.5(FBN1):c.6541del (p.Cys2181fs) rs1060501059
NM_000138.5(FBN1):c.6549T>G (p.Asn2183Lys) rs752192006
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.6563T>G (p.Phe2188Cys)
NM_000138.5(FBN1):c.6569G>T (p.Cys2190Phe) rs1566895262
NM_000138.5(FBN1):c.6576C>G (p.Cys2192Trp) rs369058466
NM_000138.5(FBN1):c.6582G>T (p.Glu2194Asp) 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.6605T>A (p.Met2202Lys) rs2043050244
NM_000138.5(FBN1):c.6609_6610del (p.Thr2203_Cys2204insTer) rs1555395002
NM_000138.5(FBN1):c.660_661del (p.Pro220_Cys221insTer) rs1555401679
NM_000138.5(FBN1):c.660del (p.Cys221fs) rs727505269
NM_000138.5(FBN1):c.6610T>C (p.Cys2204Arg) rs1555395001
NM_000138.5(FBN1):c.6611G>T (p.Cys2204Phe) rs886039158
NM_000138.5(FBN1):c.6613dup (p.Glu2205fs) rs1566895225
NM_000138.5(FBN1):c.6616+1G>A rs1064793980
NM_000138.5(FBN1):c.6616+1G>T rs1064793980
NM_000138.5(FBN1):c.6616G>A (p.Asp2206Asn) rs1555394999
NM_000138.5(FBN1):c.6617-9_6617-8inv
NM_000138.5(FBN1):c.661del (p.Cys221fs) rs1597593695
NM_000138.5(FBN1):c.6625del (p.Glu2209fs) rs2141235258
NM_000138.5(FBN1):c.6628T>A (p.Cys2210Ser) rs794728253
NM_000138.5(FBN1):c.6630T>G (p.Cys2210Trp) rs397515836
NM_000138.5(FBN1):c.6634C>T (p.Gln2212Ter) rs1597522553
NM_000138.5(FBN1):c.6645del (p.Leu2216fs) rs1555394928
NM_000138.5(FBN1):c.6656T>C (p.Phe2219Ser) rs397515837
NM_000138.5(FBN1):c.6656dup (p.Arg2220fs) rs1555394925
NM_000138.5(FBN1):c.6658C>T (p.Arg2220Ter) rs113001196
NM_000138.5(FBN1):c.6661T>C (p.Cys2221Arg) rs113543334
NM_000138.5(FBN1):c.6662G>A (p.Cys2221Tyr) rs137854460
NM_000138.5(FBN1):c.6662G>C (p.Cys2221Ser) rs137854460
NM_000138.5(FBN1):c.6667A>C (p.Asn2223His) rs1555394919
NM_000138.5(FBN1):c.6670dup (p.Thr2224fs)
NM_000138.5(FBN1):c.6678_6680del (p.Ser2227del) rs1555394913
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.6695G>C (p.Cys2232Ser) rs1060501054
NM_000138.5(FBN1):c.6697C>T (p.Pro2233Ser) rs794728255
NM_000138.5(FBN1):c.6698C>T (p.Pro2233Leu) rs1566894783
NM_000138.5(FBN1):c.669G>A (p.Met223Ile) rs910928261
NM_000138.5(FBN1):c.6701dup (p.Tyr2236fs) rs1597522390
NM_000138.5(FBN1):c.6704del (p.Gly2235fs) rs193922226
NM_000138.5(FBN1):c.6705del (p.Tyr2236fs) rs1555394900
NM_000138.5(FBN1):c.670T>C (p.Cys224Arg) rs1555401676
NM_000138.5(FBN1):c.671G>A (p.Cys224Tyr) rs1566922396
NM_000138.5(FBN1):c.6739+1G>A rs869025419
NM_000138.5(FBN1):c.6739+1G>C rs869025419
NM_000138.5(FBN1):c.6739+2T>A rs730880107
NM_000138.5(FBN1):c.673C>G (p.Pro225Ala) rs2044025163
NM_000138.5(FBN1):c.6740-1G>T rs1555394781
NM_000138.5(FBN1):c.6740-2del rs1555394783
NM_000138.5(FBN1):c.6740A>G (p.Asp2247Gly) rs1060501032
NM_000138.5(FBN1):c.6744_6746del (p.Glu2248del)
NM_000138.5(FBN1):c.6749A>T (p.Glu2250Val) rs2043018196
NM_000138.5(FBN1):c.6751del (p.Cys2251fs) rs1597520781
NM_000138.5(FBN1):c.6761del (p.Gly2254fs) rs1555394780
NM_000138.5(FBN1):c.6769_6770dup (p.Asp2257fs) rs2141232648
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.6773_6774del (p.Cys2258fs) rs1555394777
NM_000138.5(FBN1):c.6778G>A (p.Glu2260Lys)
NM_000138.5(FBN1):c.6783dup (p.Gln2262fs) rs2141232621
NM_000138.5(FBN1):c.6786_6787del (p.Gln2262fs) rs1555394776
NM_000138.5(FBN1):c.6790del (p.Glu2264fs) rs1555394775
NM_000138.5(FBN1):c.6793_6800dup (p.Leu2268fs) rs193922227
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.680_690del (p.Gln227fs) rs1555401671
NM_000138.5(FBN1):c.6820T>C (p.Cys2274Arg) rs869025412
NM_000138.5(FBN1):c.6828T>G (p.Cys2276Trp) rs1597520625
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.6841C>T (p.Gln2281Ter) rs397515840
NM_000138.5(FBN1):c.6856G>T (p.Gly2286Ter) rs1555394756
NM_000138.5(FBN1):c.6865T>C (p.Cys2289Arg) rs869025413
NM_000138.5(FBN1):c.6866G>C (p.Cys2289Ser) rs1566894230
NM_000138.5(FBN1):c.6872-14A>G rs1064793119
NM_000138.5(FBN1):c.6872-1G>T rs1597518951
NM_000138.5(FBN1):c.6872-961A>G rs1597519658
NM_000138.5(FBN1):c.6881A>C (p.Glu2294Ala) rs1555394647
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.6916_6934del (p.Arg2306fs) rs1555394630
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.6927del (p.Asn2309fs) rs1555394633
NM_000138.5(FBN1):c.6932dup (p.Gly2312fs) rs1555394631
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.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.6963del (p.Phe2322fs) rs1060501051
NM_000138.5(FBN1):c.6964delinsGG (p.Phe2322fs)
NM_000138.5(FBN1):c.6992_6997+6del rs2141229796
NM_000138.5(FBN1):c.6993C>A (p.Cys2331Ter) rs534811966
NM_000138.5(FBN1):c.6997+1G>A rs2042997306
NM_000138.5(FBN1):c.6998-13A>G rs2042989627
NM_000138.5(FBN1):c.6998-40del rs193922229
NM_000138.5(FBN1):c.7003C>T (p.Arg2335Trp) rs794728262
NM_000138.5(FBN1):c.7014C>G (p.Tyr2338Ter) rs1555394582
NM_000138.5(FBN1):c.7015T>C (p.Cys2339Arg) rs1555394581
NM_000138.5(FBN1):c.7016G>A (p.Cys2339Tyr) rs1555394580
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.7039_7040del (p.Met2347fs) rs794728319
NM_000138.5(FBN1):c.7042T>C (p.Cys2348Arg) rs1555394576
NM_000138.5(FBN1):c.7058del (p.Ser2353fs) rs1555394574
NM_000138.5(FBN1):c.7064G>A (p.Arg2355Lys) rs376372763
NM_000138.5(FBN1):c.7071del (p.Val2358fs) rs1555394571
NM_000138.5(FBN1):c.7082C>A (p.Ser2361Ter) rs397515844
NM_000138.5(FBN1):c.7084G>T (p.Glu2362Ter) rs1555394570
NM_000138.5(FBN1):c.7087T>G (p.Cys2363Gly) rs1597517935
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.7109del (p.Gly2370fs) rs869025422
NM_000138.5(FBN1):c.7112G>A (p.Trp2371Ter) rs1555394567
NM_000138.5(FBN1):c.7116dup (p.Pro2373fs) rs2141228932
NM_000138.5(FBN1):c.7139del (p.Phe2380fs) rs1555394561
NM_000138.5(FBN1):c.7141C>T (p.Gln2381Ter) rs869025414
NM_000138.5(FBN1):c.7151_7152del (p.Val2384fs) rs869025423
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.7180C>T (p.Arg2394Ter) rs397515848
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.7191dup (p.Thr2398fs) rs1555394559
NM_000138.5(FBN1):c.719G>A (p.Arg240His) rs768744583
NM_000138.5(FBN1):c.7201G>T (p.Ala2401Ser) rs771260695
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.7204G>A (p.Asp2402Asn) rs1057524757
NM_000138.5(FBN1):c.7205-2A>C rs1555394450
NM_000138.5(FBN1):c.7208T>A (p.Ile2403Asn) rs1555394449
NM_000138.5(FBN1):c.7217G>A (p.Cys2406Tyr) rs1131691479
NM_000138.5(FBN1):c.7217_7226delinsTACAGA (p.Cys2406fs) rs1597516501
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.723G>A (p.Thr241=) rs757264206
NM_000138.5(FBN1):c.7240C>T (p.Arg2414Ter) rs112550005
NM_000138.5(FBN1):c.7247G>T (p.Gly2416Val) rs1555394442
NM_000138.5(FBN1):c.7251_7262del (p.Glu2417_Asn2420del)
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.7258A>C (p.Asn2420His)
NM_000138.5(FBN1):c.7259del (p.Asn2420fs) rs869025424
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.7323del (p.Cys2442fs) rs1555394436
NM_000138.5(FBN1):c.7324T>A (p.Cys2442Ser) rs1555394435
NM_000138.5(FBN1):c.7325G>A (p.Cys2442Tyr) rs1597516347
NM_000138.5(FBN1):c.7330+3_7330+6del rs1597516325
NM_000138.5(FBN1):c.7330G>T (p.Asp2444Tyr) rs1555394434
NM_000138.5(FBN1):c.7331-1G>C rs1555394412
NM_000138.5(FBN1):c.733C>T (p.Gln245Ter) rs1555401667
NM_000138.5(FBN1):c.7371dup (p.Ile2458fs) rs1555394407
NM_000138.5(FBN1):c.7383del (p.Asn2461fs) rs2141226409
NM_000138.5(FBN1):c.7384A>T (p.Thr2462Ser)
NM_000138.5(FBN1):c.7398C>A (p.Tyr2466Ter) rs1555394402
NM_000138.5(FBN1):c.7399del (p.Gln2467fs) rs2042971434
NM_000138.5(FBN1):c.7402T>C (p.Cys2468Arg) rs1085308004
NM_000138.5(FBN1):c.7407A>G (p.Ser2469=) rs193922232
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.7410C>G (p.Cys2470Trp) rs1555394397
NM_000138.5(FBN1):c.7421A>G (p.Tyr2474Cys) rs869025415
NM_000138.5(FBN1):c.7432G>T (p.Glu2478Ter) rs537570299
NM_000138.5(FBN1):c.7447T>C (p.Cys2483Arg) rs1555394391
NM_000138.5(FBN1):c.7447T>G (p.Cys2483Gly)
NM_000138.5(FBN1):c.7448G>C (p.Cys2483Ser) rs1555394390
NM_000138.5(FBN1):c.7453+1G>T rs397515851
NM_000138.5(FBN1):c.7454A>G (p.Asp2485Gly) rs1085307921
NM_000138.5(FBN1):c.7455_7821del
NM_000138.5(FBN1):c.7465T>G (p.Cys2489Gly) rs1057520728
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.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.7499G>A (p.Cys2500Tyr) rs794728160
NM_000138.5(FBN1):c.7505A>T (p.Asn2502Ile) rs1555394243
NM_000138.5(FBN1):c.7525T>A (p.Cys2509Ser) rs1060501055
NM_000138.5(FBN1):c.7527C>A (p.Cys2509Ter) rs2141222456
NM_000138.5(FBN1):c.7531T>C (p.Cys2511Arg) rs794728272
NM_000138.5(FBN1):c.7532G>A (p.Cys2511Tyr) rs1555394238
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg) rs363811
NM_000138.5(FBN1):c.7540G>T (p.Gly2514Ter)
NM_000138.5(FBN1):c.7541G>A (p.Gly2514Glu)
NM_000138.5(FBN1):c.7554C>A (p.His2518Gln) rs2042946233
NM_000138.5(FBN1):c.7559del (p.Thr2520fs) rs1597513708
NM_000138.5(FBN1):c.7566C>A (p.Cys2522Ter) rs1555394235
NM_000138.5(FBN1):c.7570+5G>A rs1566891797
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.7580A>C (p.Glu2527Ala) rs397515853
NM_000138.5(FBN1):c.7603T>C (p.Cys2535Arg) rs1555394212
NM_000138.5(FBN1):c.7605C>A (p.Cys2535Ter) rs113544411
NM_000138.5(FBN1):c.7606G>A (p.Gly2536Arg) rs397515854
NM_000138.5(FBN1):c.7608dup (p.Ser2537fs) rs1555394206
NM_000138.5(FBN1):c.762del (p.Leu256fs) rs1064793559
NM_000138.5(FBN1):c.7643T>A (p.Phe2548Tyr)
NM_000138.5(FBN1):c.7643del (p.Phe2548fs) rs1555394197
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.7656C>A (p.Cys2552Ter) rs1555394195
NM_000138.5(FBN1):c.7678del (p.Gln2560fs) rs193922235
NM_000138.5(FBN1):c.7693del (p.Cys2565fs) rs2141221743
NM_000138.5(FBN1):c.7694G>A (p.Cys2565Tyr) rs1566891645
NM_000138.5(FBN1):c.7697A>C (p.Glu2566Ala) rs2042941498
NM_000138.5(FBN1):c.7699+1G>A rs1555394189
NM_000138.5(FBN1):c.7699+2T>C
NM_000138.5(FBN1):c.7699+5G>A rs1555394187
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.7719del (p.Asn2574fs) rs1555394152
NM_000138.5(FBN1):c.7726C>T (p.Arg2576Cys) rs147195031
NM_000138.5(FBN1):c.7729dup (p.Cys2577fs) rs1555394151
NM_000138.5(FBN1):c.772C>T (p.Gln258Ter) rs146348130
NM_000138.5(FBN1):c.7735del (p.His2579fs) rs1566891454
NM_000138.5(FBN1):c.7742G>A (p.Cys2581Tyr) rs1555394149
NM_000138.5(FBN1):c.7746G>A (p.Gln2582=) rs1555394148
NM_000138.5(FBN1):c.7769G>A (p.Cys2590Tyr) rs869025416
NM_000138.5(FBN1):c.7776_7819+37delinsTAGCT rs2141220506
NM_000138.5(FBN1):c.7780C>T (p.Gln2594Ter) rs1555394144
NM_000138.5(FBN1):c.7780del (p.Gln2594fs) rs1555394146
NM_000138.5(FBN1):c.7785del (p.Tyr2596fs) rs1566891406
NM_000138.5(FBN1):c.7787A>G (p.Tyr2596Cys) rs1566891404
NM_000138.5(FBN1):c.7800C>G (p.Tyr2600Ter) rs1404133653
NM_000138.5(FBN1):c.7806G>A (p.Trp2602Ter) rs193922236
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+1G>A rs112907302
NM_000138.5(FBN1):c.7819+3A>C rs1555394135
NM_000138.5(FBN1):c.7819+4A>G rs794728278
NM_000138.5(FBN1):c.7819G>A (p.Asp2607Asn) rs1597512576
NM_000138.5(FBN1):c.7820-1G>C rs1597509836
NM_000138.5(FBN1):c.7820-3C>G rs193922237
NM_000138.5(FBN1):c.7820A>G (p.Asp2607Gly)
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.7850G>A (p.Cys2617Tyr) rs1555393886
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.7871A>G (p.Asn2624Ser) rs113935744
NM_000138.5(FBN1):c.7879G>A (p.Gly2627Arg) rs193922239
NM_000138.5(FBN1):c.7879G>C (p.Gly2627Arg) rs193922239
NM_000138.5(FBN1):c.7880G>T (p.Gly2627Val) rs1555393875
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.7897T>G (p.Cys2633Gly) rs1555393871
NM_000138.5(FBN1):c.7898G>C (p.Cys2633Ser) rs193922240
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>C (p.Cys2646Arg) rs1555393863
NM_000138.5(FBN1):c.7951G>T (p.Glu2651Ter) rs1555393859
NM_000138.5(FBN1):c.7955G>A (p.Cys2652Tyr) rs397515859
NM_000138.5(FBN1):c.7972C>G (p.Pro2658Ala) rs1555393851
NM_000138.5(FBN1):c.7974dup (p.Cys2659fs) rs1555393848
NM_000138.5(FBN1):c.7975T>G (p.Cys2659Gly) rs1555393847
NM_000138.5(FBN1):c.7977C>A (p.Cys2659Ter) rs1555393844
NM_000138.5(FBN1):c.7980C>G (p.Ser2660Arg) rs1060501030
NM_000138.5(FBN1):c.7982A>G (p.Tyr2661Cys) rs112196241
NM_000138.5(FBN1):c.7988G>C (p.Cys2663Ser) rs1597509631
NM_000138.5(FBN1):c.7994A>G (p.Asn2665Ser) rs763173031
NM_000138.5(FBN1):c.799_805del (p.Gly267fs) rs1060501100
NM_000138.5(FBN1):c.8002G>T (p.Gly2668Cys) rs1057521100
NM_000138.5(FBN1):c.8009del (p.Tyr2670fs) rs2141214634
NM_000138.5(FBN1):c.8011C>T (p.Leu2671=) rs886051244
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.801del (p.Ser268fs) rs1060501050
NM_000138.5(FBN1):c.8021G>A (p.Cys2674Tyr) rs1555393827
NM_000138.5(FBN1):c.8038C>T (p.Arg2680Cys) rs794728283
NM_000138.5(FBN1):c.8042T>G (p.Ile2681Arg) rs1555393825
NM_000138.5(FBN1):c.8054A>G (p.His2685Arg) rs1555393666
NM_000138.5(FBN1):c.8059_8060del (p.Val2687fs) rs2042873946
NM_000138.5(FBN1):c.8069T>C (p.Met2690Thr) rs747476726
NM_000138.5(FBN1):c.8080C>T (p.Arg2694Ter) rs200309328
NM_000138.5(FBN1):c.8081G>A (p.Arg2694Gln) rs371375126
NM_000138.5(FBN1):c.8087del (p.Asn2696fs) rs1060501065
NM_000138.5(FBN1):c.8090_8099del (p.Pro2697fs)
NM_000138.5(FBN1):c.8138A>G (p.Glu2713Gly) rs1555393658
NM_000138.5(FBN1):c.8147dup (p.Tyr2716Ter) rs1555393657
NM_000138.5(FBN1):c.8148C>G (p.Tyr2716Ter) 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.8154dup (p.Lys2719Ter) rs794728321
NM_000138.5(FBN1):c.8176del (p.Arg2726fs)
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.8203del (p.Glu2735fs) rs193922241
NM_000138.5(FBN1):c.8226+1G>A rs398122833
NM_000138.5(FBN1):c.8226+5G>T rs193922243
NM_000138.5(FBN1):c.8232G>C (p.Gln2744His) rs376119827
NM_000138.5(FBN1):c.8252_8253dup (p.Ser2752Ter) rs1555393565
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.8268G>A (p.Trp2756Ter) rs267606796
NM_000138.5(FBN1):c.8312dup (p.Ser2772fs) rs1555393560
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.8339T>C (p.Leu2780Pro) rs869025417
NM_000138.5(FBN1):c.8356A>G (p.Thr2786Ala) rs781352764
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.8396del (p.Asn2799fs) rs1555393540
NM_000138.5(FBN1):c.8405G>T (p.Gly2802Val)
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.8428del (p.Glu2810fs) rs1555393535
NM_000138.5(FBN1):c.8447A>C (p.His2816Pro) rs1555393532
NM_000138.5(FBN1):c.8473_8475del (p.Gly2825del) rs727504454
NM_000138.5(FBN1):c.8477C>G (p.Thr2826Ser) rs748384979
NM_000138.5(FBN1):c.8479del (p.Tyr2827fs) rs1555393525
NM_000138.5(FBN1):c.8483C>G (p.Ser2828Ter) rs397515864
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.8492T>G (p.Ile2831Ser) rs1555393523
NM_000138.5(FBN1):c.8507T>A (p.Leu2836His) rs2141209638
NM_000138.5(FBN1):c.8512A>T (p.Lys2838Ter) rs1597506641
NM_000138.5(FBN1):c.8516dup (p.Lys2840fs) rs1555393514
NM_000138.5(FBN1):c.8521G>T (p.Glu2841Ter) rs587782948
NM_000138.5(FBN1):c.8525_8529del (p.Leu2842fs) rs1064794130
NM_000138.5(FBN1):c.8530C>T (p.Gln2844Ter) rs1555393510
NM_000138.5(FBN1):c.8536G>T (p.Glu2846Ter) rs1555393508
NM_000138.5(FBN1):c.8544dup (p.Tyr2849fs) rs794728323
NM_000138.5(FBN1):c.8554_8561delinsTATCAC (p.Asp2852fs) rs2141209520
NM_000138.5(FBN1):c.8562del (p.Ser2855fs)
NM_000138.5(FBN1):c.8579A>G (p.Asp2860Gly) rs368599541
NM_000138.5(FBN1):c.8596dup (p.Ile2866fs) rs1597506547
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.8605_8606del (p.Leu2869fs) rs397515866
NM_000138.5(FBN1):c.860A>G (p.Glu287Gly) rs1555401454
NM_000138.5(FBN1):c.871G>T (p.Glu291Ter) rs1232880706
NM_000138.5(FBN1):c.937T>C (p.Cys313Arg) rs2141343372
NM_000138.5(FBN1):c.939C>G (p.Cys313Trp) rs1555401007
NM_000138.5(FBN1):c.958dup (p.Tyr320fs) rs397515867
NM_000138.5(FBN1):c.959dup (p.Tyr320Ter) rs1555401005
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.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:c.(7204+1_7205-1)_(7819+1_7820-1)del
Single allele
t(9;15)(p13.3;q21.1)

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