ClinVar Miner

List of variants reported as pathogenic for Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection by Invitae

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ClinVar version:
Total variants: 1503
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HGVS dbSNP gnomAD frequency
NM_000138.5(FBN1):c.7412C>G (p.Pro2471Arg) rs193922233 0.00006
NM_000138.5(FBN1):c.3026C>G (p.Pro1009Arg) rs148076256 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.1693C>T (p.Arg565Ter) rs113422242 0.00001
NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys) rs727503057 0.00001
NM_000138.5(FBN1):c.2920C>T (p.Arg974Cys) rs397514558 0.00001
NM_000138.5(FBN1):c.2986T>C (p.Cys996Arg) rs140592 0.00001
NM_000138.5(FBN1):c.3031G>A (p.Gly1011Arg) rs1267721327 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.4057G>A (p.Gly1353Arg) rs187177496 0.00001
NM_000138.5(FBN1):c.4460-8G>A rs193922204 0.00001
NM_000138.5(FBN1):c.5471G>A (p.Cys1824Tyr) rs1597537858 0.00001
NM_000138.5(FBN1):c.5512G>A (p.Gly1838Ser) rs397515823 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.6354C>T (p.Ile2118=) rs112989722 0.00001
NM_000138.5(FBN1):c.6448C>T (p.Arg2150Cys) rs76702162 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.6916C>T (p.Arg2306Cys) rs1318405523 0.00001
NM_000138.5(FBN1):c.7183G>A (p.Gly2395Arg) rs1448650040 0.00001
NM_000138.5(FBN1):c.7339G>A (p.Glu2447Lys) rs137854464 0.00001
NM_000138.5(FBN1):c.776G>A (p.Gly259Glu) rs751169871 0.00001
NM_000138.5(FBN1):c.7916A>G (p.Tyr2639Cys) rs794728280 0.00001
NM_000138.5(FBN1):c.8326C>T (p.Arg2776Ter) rs137854466 0.00001
NM_000138.5(FBN1):c.994C>T (p.Arg332Cys) rs1161109360 0.00001
NC_000015.10:g.(?_48134288)_(48644779_?)del
NC_000015.10:g.(?_48410970)_(48412763_?)del
NC_000015.10:g.(?_48410970)_(48497411_?)del
NC_000015.10:g.(?_48410970)_(48537828_?)del
NC_000015.10:g.(?_48410970)_(48644789_?)del
NC_000015.10:g.(?_48410980)_(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.(?_48444531)_(48444670_?)del
NC_000015.10:g.(?_48444531)_(48448903_?)del
NC_000015.10:g.(?_48446696)_(48446910_?)del
NC_000015.10:g.(?_48460226)_(48460337_?)del
NC_000015.10:g.(?_48460226)_(48499058_?)del
NC_000015.10:g.(?_48470614)_(48499058_?)del
NC_000015.10:g.(?_48492451)_(48492596_?)del
NC_000015.10:g.(?_48503767)_(48510189_?)del
NC_000015.10:g.(?_48503777)_(48516372_?)del
NC_000015.10:g.(?_48503777)_(48613102_?)del
NC_000015.10:g.(?_48508562)_(48516382_?)del
NC_000015.10:g.(?_48508562)_(48644789_?)del
NC_000015.10:g.(?_48508572)_(48510179_?)del
NC_000015.10:g.(?_48520639)_(48520837_?)del
NC_000015.10:g.(?_48596263)_(48644789_?)del
NC_000015.10:g.(?_48596273)_(48613102_?)del
NC_000015.10:g.(?_48596273)_(48644779_?)del
NC_000015.10:g.(?_48610708)_(48613112_?)del
NC_000015.10:g.(?_48612990)_(48644789_?)del
NC_000015.10:g.(?_48613000)_(48644779_?)del
NC_000015.10:g.(?_48644596)_(48644779_?)del
NC_000015.9:g.(?_48426485)_(48730124_?)del
NC_000015.9:g.(?_48695060)_(48703482_?)del
NC_000015.9:g.(?_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)_(48936966_?)del
NC_000015.9:g.(?_48707358)_(48714275_?)del
NC_000015.9:g.(?_48717965)_(48720525_?)del
NC_000015.9:g.(?_48720523)_(48725205_?)del
NC_000015.9:g.(?_48722912)_(48727571_?)del
NC_000015.9:g.(?_48726874)_(48728050_?)del
NC_000015.9:g.(?_48729138)_(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.(?_48766715)_(48766857_?)del
NC_000015.9:g.(?_48773832)_(48936966_?)del
NC_000015.9:g.(?_48781877)_(48782069_?)del
NC_000015.9:g.(?_48782167)_(48927084_?)del
NC_000015.9:g.(?_48791031)_48829849del
NC_000015.9:g.(?_48791162)_(48791255_?)del
NC_000015.9:g.(?_48791162)_(48830025_?)del
NC_000015.9:g.(?_48791162)_(48936966_?)del
NC_000015.9:g.(?_48795974)_(48830015_?)del
NC_000015.9:g.(?_48802221)_(48936966_?)del
NC_000015.9:g.(?_48805726)_(48808579_?)del
NC_000015.9:g.(?_48805726)_(48813034_?)del
NC_000015.9:g.(?_48805736)_(48936976_?)del
NC_000015.9:g.(?_48812846)_(48905299_?)dup
NC_000015.9:g.(?_48826257)_(49097846_?)del
NC_000015.9:g.(?_48826267)_(48936976_?)del
NC_000015.9:g.(?_48888460)_(48888595_?)del
NC_000015.9:g.(?_48888460)_(48905309_?)del
NC_000015.9:g.(?_48902905)_(48936966_?)del
NC_000015.9:g.(?_48902915)_(48905299_?)del
NC_000015.9:g.(?_48936783)_(48936966_?)del
NM_000138.4(FBN1):c.2471_2474delinsAATAAA (p.Ser824_Pro825delinsLysTer) rs1566911724
NM_000138.4(FBN1):c.2682_2692delinsTTTACC (p.Ile895fs) rs1555399095
NM_000138.4(FBN1):c.4821delinsCA (p.Asp1608fs) rs1555397007
NM_000138.4(FBN1):c.5362_5364delinsGACT (p.Ser1788fs) rs1566901605
NM_000138.4(FBN1):c.5593_5594dup (p.Ile1866fs) rs886043709
NM_000138.5(FBN1):c.1003_1004del (p.Tyr335fs) rs2141336256
NM_000138.5(FBN1):c.1006T>C (p.Cys336Arg) rs1555400612
NM_000138.5(FBN1):c.1010dup (p.Tyr337Ter) rs1566918075
NM_000138.5(FBN1):c.1011C>A (p.Tyr337Ter) rs1057520656
NM_000138.5(FBN1):c.1021_1028del (p.Thr341fs) rs1566918060
NM_000138.5(FBN1):c.1035C>A (p.Cys345Ter) rs1597584082
NM_000138.5(FBN1):c.1051C>T (p.Gln351Ter) rs397515753
NM_000138.5(FBN1):c.1051_1052del (p.Gln351fs) rs2141336143
NM_000138.5(FBN1):c.1061_1067dup (p.Met356fs)
NM_000138.5(FBN1):c.1067dup (p.Met356fs)
NM_000138.5(FBN1):c.1069C>T (p.Gln357Ter) rs2043846274
NM_000138.5(FBN1):c.1074_1081del (p.Cys358_Asp361delinsTer) rs2141336085
NM_000138.5(FBN1):c.1075_1089del (p.Cys359_Gly363del)
NM_000138.5(FBN1):c.1076G>T (p.Cys359Phe) rs1555400603
NM_000138.5(FBN1):c.1090C>T (p.Arg364Ter) rs794728165
NM_000138.5(FBN1):c.1090del (p.Arg364fs) rs2043845786
NM_000138.5(FBN1):c.1098G>T (p.Trp366Cys) rs1555400595
NM_000138.5(FBN1):c.1117del (p.Ala373fs)
NM_000138.5(FBN1):c.1134del (p.Ile379fs) rs1060501038
NM_000138.5(FBN1):c.1138A>T (p.Arg380Ter) rs1566917979
NM_000138.5(FBN1):c.1147G>A (p.Glu383Lys) rs794728325
NM_000138.5(FBN1):c.1148-2A>G rs397515756
NM_000138.5(FBN1):c.1155_1165del (p.Phe385fs)
NM_000138.5(FBN1):c.1165dup (p.Cys389fs)
NM_000138.5(FBN1):c.1185dup (p.Pro396fs) rs2043801575
NM_000138.5(FBN1):c.1188_1206del (p.Gly397fs)
NM_000138.5(FBN1):c.1200del (p.Glu400fs)
NM_000138.5(FBN1):c.1216del (p.Gly407fs) rs2141331057
NM_000138.5(FBN1):c.1220del (p.Gly407fs)
NM_000138.5(FBN1):c.1245del (p.Pro416fs) rs2141331000
NM_000138.5(FBN1):c.126del (p.Lys43fs) rs1566944839
NM_000138.5(FBN1):c.127A>T (p.Lys43Ter) rs751270801
NM_000138.5(FBN1):c.1285C>T (p.Arg429Ter) rs112645512
NM_000138.5(FBN1):c.1287dup (p.Pro430fs) rs1555400410
NM_000138.5(FBN1):c.1302T>A (p.Tyr434Ter) rs1566916969
NM_000138.5(FBN1):c.1338del (p.Pro446_Val447insTer)
NM_000138.5(FBN1):c.1400dup (p.Thr468fs) rs1597580984
NM_000138.5(FBN1):c.1410del (p.Ser471fs) rs1555400383
NM_000138.5(FBN1):c.1421G>T (p.Cys474Phe) rs794728166
NM_000138.5(FBN1):c.1426T>G (p.Cys476Gly) rs794728326
NM_000138.5(FBN1):c.1427G>A (p.Cys476Tyr) rs2043792070
NM_000138.5(FBN1):c.1428C>G (p.Cys476Trp)
NM_000138.5(FBN1):c.1443dup (p.Leu482fs)
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.1463G>A (p.Cys488Tyr) rs1555400372
NM_000138.5(FBN1):c.1468+1G>A rs2141329822
NM_000138.5(FBN1):c.1468+1G>C
NM_000138.5(FBN1):c.1468+1G>T
NM_000138.5(FBN1):c.1468+2T>C rs794728167
NM_000138.5(FBN1):c.1468+2T>G rs794728167
NM_000138.5(FBN1):c.1468+5G>A rs397515757
NM_000138.5(FBN1):c.1468G>T (p.Asp490Tyr) rs1555400371
NM_000138.5(FBN1):c.1479del (p.Glu493fs)
NM_000138.5(FBN1):c.1480T>C (p.Cys494Arg)
NM_000138.5(FBN1):c.1481G>A (p.Cys494Tyr) rs1057518881
NM_000138.5(FBN1):c.1482T>G (p.Cys494Trp)
NM_000138.5(FBN1):c.1485dup (p.Lys496fs)
NM_000138.5(FBN1):c.1490del (p.Asn497fs)
NM_000138.5(FBN1):c.1494del (p.Cys499fs)
NM_000138.5(FBN1):c.1495T>A (p.Cys499Ser) rs2043778680
NM_000138.5(FBN1):c.1495T>C (p.Cys499Arg)
NM_000138.5(FBN1):c.1496G>A (p.Cys499Tyr) rs587782944
NM_000138.5(FBN1):c.1505del (p.Gly502fs) rs2141327834
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.1513_1520del (p.Ile505fs) rs2141327809
NM_000138.5(FBN1):c.1520del (p.Asn507fs)
NM_000138.5(FBN1):c.1522C>T (p.Gln508Ter) rs1057521859
NM_000138.5(FBN1):c.1526del (p.Gly509fs)
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>T (p.Cys513Phe) rs1060501036
NM_000138.5(FBN1):c.1540C>T (p.Gln514Ter) rs2141327746
NM_000138.5(FBN1):c.1546C>T (p.Arg516Ter) rs113812345
NM_000138.5(FBN1):c.1556A>G (p.Tyr519Cys) rs1555400278
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.1576del (p.Thr526fs)
NM_000138.5(FBN1):c.1584C>A (p.Cys528Ter)
NM_000138.5(FBN1):c.1585C>T (p.Arg529Ter) rs137854476
NM_000138.5(FBN1):c.1589-1G>A rs1555400077
NM_000138.5(FBN1):c.1589-1G>C
NM_000138.5(FBN1):c.1589A>G (p.Asp530Gly) rs794728171
NM_000138.5(FBN1):c.1597G>T (p.Glu533Ter)
NM_000138.5(FBN1):c.1600T>G (p.Cys534Gly)
NM_000138.5(FBN1):c.1601G>A (p.Cys534Tyr) rs397515759
NM_000138.5(FBN1):c.1601G>C (p.Cys534Ser) rs397515759
NM_000138.5(FBN1):c.1606C>T (p.Gln536Ter) rs1479709398
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.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.1638C>A (p.Cys546Ter) rs2141323411
NM_000138.5(FBN1):c.164+1G>A rs794728213
NM_000138.5(FBN1):c.164+1del rs1555407399
NM_000138.5(FBN1):c.1643A>T (p.Asn548Ile) rs137854462
NM_000138.5(FBN1):c.165-1G>C
NM_000138.5(FBN1):c.165-2A>C rs754351718
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.1667_1677del (p.Val556fs)
NM_000138.5(FBN1):c.1670G>A (p.Cys557Tyr) rs1057521102
NM_000138.5(FBN1):c.1670G>T (p.Cys557Phe) rs1057521102
NM_000138.5(FBN1):c.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.1690dup (p.Thr564fs)
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.1710T>G (p.Cys570Trp) rs193922183
NM_000138.5(FBN1):c.1715-2A>G rs2043733370
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.1744T>C (p.Cys582Arg) rs2141321636
NM_000138.5(FBN1):c.1744T>G (p.Cys582Gly)
NM_000138.5(FBN1):c.1759T>G (p.Cys587Gly) rs1555399968
NM_000138.5(FBN1):c.175T>C (p.Cys59Arg) rs2140737589
NM_000138.5(FBN1):c.1761T>G (p.Cys587Trp)
NM_000138.5(FBN1):c.1766A>G (p.Asn589Ser) rs1555399962
NM_000138.5(FBN1):c.1782_1783insSVAelement
NM_000138.5(FBN1):c.1782del (p.Phe594fs) rs1597577114
NM_000138.5(FBN1):c.1786T>C (p.Cys596Arg) rs1057520131
NM_000138.5(FBN1):c.1786T>G (p.Cys596Gly) rs1057520131
NM_000138.5(FBN1):c.1787G>A (p.Cys596Tyr) rs2043732180
NM_000138.5(FBN1):c.1788T>A (p.Cys596Ter) rs2141321569
NM_000138.5(FBN1):c.1792T>C (p.Cys598Arg)
NM_000138.5(FBN1):c.1792T>G (p.Cys598Gly) rs2141321553
NM_000138.5(FBN1):c.1792del (p.Cys598fs) rs2141321558
NM_000138.5(FBN1):c.1793G>T (p.Cys598Phe) rs1555399955
NM_000138.5(FBN1):c.1809del (p.Gln603fs)
NM_000138.5(FBN1):c.1822G>T (p.Gly608Ter)
NM_000138.5(FBN1):c.182C>G (p.Ser61Ter)
NM_000138.5(FBN1):c.1831T>C (p.Cys611Arg) rs1555399944
NM_000138.5(FBN1):c.1837+1G>T rs397515762
NM_000138.5(FBN1):c.1837+5G>A rs1445085747
NM_000138.5(FBN1):c.1837G>A (p.Asp613Asn) rs1555399943
NM_000138.5(FBN1):c.1838-2A>G rs2141317516
NM_000138.5(FBN1):c.1846G>A (p.Glu616Lys) 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.184C>T (p.Arg62Cys) rs25403
NM_000138.5(FBN1):c.1850G>A (p.Cys617Tyr) rs1555399836
NM_000138.5(FBN1):c.1850G>C (p.Cys617Ser) rs1555399836
NM_000138.5(FBN1):c.1855del (p.Thr619fs) rs2141317454
NM_000138.5(FBN1):c.1859del (p.Pro620fs)
NM_000138.5(FBN1):c.1860del (p.Ile622fs) rs2141317442
NM_000138.5(FBN1):c.1867_1868delinsCT (p.Cys623Leu) rs2043697829
NM_000138.5(FBN1):c.1868G>A (p.Cys623Tyr) rs1566914030
NM_000138.5(FBN1):c.1875_1876inv (p.Gly626Arg)
NM_000138.5(FBN1):c.1882T>C (p.Cys628Arg) rs2141317350
NM_000138.5(FBN1):c.1883G>A (p.Cys628Tyr) rs1555399825
NM_000138.5(FBN1):c.1884C>G (p.Cys628Trp) rs150421653
NM_000138.5(FBN1):c.188A>G (p.Tyr63Cys) rs1303389437
NM_000138.5(FBN1):c.1891A>C (p.Thr631Pro) rs2043697314
NM_000138.5(FBN1):c.1904A>G (p.Tyr635Cys) rs1555399816
NM_000138.5(FBN1):c.1910G>A (p.Cys637Tyr) rs1478695794
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>T (p.Cys639Phe) rs878853676
NM_000138.5(FBN1):c.1942del (p.Asp648fs)
NM_000138.5(FBN1):c.1948C>T (p.Arg650Cys) rs193922185
NM_000138.5(FBN1):c.1948del (p.Arg650fs) rs1566913982
NM_000138.5(FBN1):c.1954T>C (p.Cys652Arg) rs2043696438
NM_000138.5(FBN1):c.1955G>A (p.Cys652Tyr) rs2043696418
NM_000138.5(FBN1):c.1968_1969del (p.Met657fs) rs1555399775
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.198C>G (p.Tyr66Ter) rs2044669179
NM_000138.5(FBN1):c.1995C>G (p.Tyr665Ter) rs2141315893
NM_000138.5(FBN1):c.1999A>T (p.Arg667Ter) rs2043685929
NM_000138.5(FBN1):c.199T>C (p.Cys67Arg) rs2140737496
NM_000138.5(FBN1):c.1A>G (p.Met1Val) rs730880097
NM_000138.5(FBN1):c.1A>T (p.Met1Leu) rs730880097
NM_000138.5(FBN1):c.2003delinsTGTAT (p.Gly668fs) rs1555399770
NM_000138.5(FBN1):c.2005C>T (p.Gln669Ter)
NM_000138.5(FBN1):c.2009_2018delinsTTGGTGCT (p.Cys670fs)
NM_000138.5(FBN1):c.200G>T (p.Cys67Phe) rs2044669166
NM_000138.5(FBN1):c.2021del (p.Leu674fs)
NM_000138.5(FBN1):c.2023_2026del (p.Phe675fs) rs886041349
NM_000138.5(FBN1):c.2028_2029insA (p.Ala677fs) rs1060501027
NM_000138.5(FBN1):c.202dup (p.Cys68fs)
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.2049C>G (p.Cys683Trp)
NM_000138.5(FBN1):c.2050T>C (p.Cys684Arg) rs1555399764
NM_000138.5(FBN1):c.2051G>A (p.Cys684Tyr) rs1555399763
NM_000138.5(FBN1):c.2051G>T (p.Cys684Phe) rs1555399763
NM_000138.5(FBN1):c.2053T>A (p.Cys685Ser) rs1597574236
NM_000138.5(FBN1):c.2054G>A (p.Cys685Tyr) rs1555399761
NM_000138.5(FBN1):c.2054dup (p.Cys685fs) rs2141315799
NM_000138.5(FBN1):c.2055C>G (p.Cys685Trp) rs140603
NM_000138.5(FBN1):c.2063_2064del (p.Thr688fs)
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.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.2099del (p.Pro700fs) rs1597574166
NM_000138.5(FBN1):c.2111C>G (p.Ser704Ter) rs2043683891
NM_000138.5(FBN1):c.2113+1G>A rs1566913670
NM_000138.5(FBN1):c.2113+1G>C rs1566913670
NM_000138.5(FBN1):c.2113+1G>T rs1566913670
NM_000138.5(FBN1):c.2113+2T>G rs730880105
NM_000138.5(FBN1):c.2113G>A (p.Ala705Thr) rs1597574156
NM_000138.5(FBN1):c.2114-1G>A
NM_000138.5(FBN1):c.2114-2A>C rs886041440
NM_000138.5(FBN1):c.2116G>T (p.Glu706Ter) rs2141308933
NM_000138.5(FBN1):c.211T>A (p.Trp71Arg) rs1555405658
NM_000138.5(FBN1):c.211T>C (p.Trp71Arg) rs1555405658
NM_000138.5(FBN1):c.2131T>A (p.Cys711Ser) rs1555399481
NM_000138.5(FBN1):c.2132G>A (p.Cys711Tyr)
NM_000138.5(FBN1):c.2132G>T (p.Cys711Phe)
NM_000138.5(FBN1):c.213G>A (p.Trp71Ter)
NM_000138.5(FBN1):c.2143_2161del (p.Pro715fs) rs1597571360
NM_000138.5(FBN1):c.2149_2150insGA (p.Met717fs) rs2043633143
NM_000138.5(FBN1):c.2167+1G>A rs2141308781
NM_000138.5(FBN1):c.2168-1G>C rs1555399387
NM_000138.5(FBN1):c.2168-1G>T rs1555399387
NM_000138.5(FBN1):c.2168A>C (p.Asp723Ala) rs137854463
NM_000138.5(FBN1):c.2171T>A (p.Ile724Lys)
NM_000138.5(FBN1):c.2176G>C (p.Glu726Gln) rs2141306581
NM_000138.5(FBN1):c.2177A>G (p.Glu726Gly)
NM_000138.5(FBN1):c.2179T>A (p.Cys727Ser) rs1064794025
NM_000138.5(FBN1):c.217del (p.Thr73fs) rs2140737430
NM_000138.5(FBN1):c.2180G>A (p.Cys727Tyr) rs1555399381
NM_000138.5(FBN1):c.2213dup (p.Cys739fs) rs1555399379
NM_000138.5(FBN1):c.2214_2217del (p.Ile738fs)
NM_000138.5(FBN1):c.2222del (p.Asn741fs)
NM_000138.5(FBN1):c.2237A>G (p.Tyr746Cys) rs1555399372
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.2248T>C (p.Cys750Arg) rs1555399368
NM_000138.5(FBN1):c.2249G>A (p.Cys750Tyr) rs2043616369
NM_000138.5(FBN1):c.2249G>T (p.Cys750Phe)
NM_000138.5(FBN1):c.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.2273C>G (p.Ser758Ter)
NM_000138.5(FBN1):c.2289C>A (p.Cys763Ter)
NM_000138.5(FBN1):c.2292del (p.Asp765fs) rs2141306307
NM_000138.5(FBN1):c.2293+1G>A rs1060501092
NM_000138.5(FBN1):c.2296del (p.Ile766fs) rs2141305162
NM_000138.5(FBN1):c.2298_2301del (p.Ile766fs) rs1555399281
NM_000138.5(FBN1):c.2302G>T (p.Glu768Ter)
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.2340del (p.Gln780fs) rs1566911942
NM_000138.5(FBN1):c.2342G>A (p.Cys781Tyr) rs1555399271
NM_000138.5(FBN1):c.2343T>G (p.Cys781Trp)
NM_000138.5(FBN1):c.2368T>C (p.Cys790Arg) rs1555399270
NM_000138.5(FBN1):c.2368T>G (p.Cys790Gly)
NM_000138.5(FBN1):c.2369G>A (p.Cys790Tyr) rs193922188
NM_000138.5(FBN1):c.2369G>T (p.Cys790Phe) rs193922188
NM_000138.5(FBN1):c.2375G>A (p.Cys792Tyr) rs886038984
NM_000138.5(FBN1):c.2379dup (p.Lys794fs) rs1597569589
NM_000138.5(FBN1):c.2384del (p.Gly795fs) rs1566911908
NM_000138.5(FBN1):c.238T>C (p.Cys80Arg) rs111764111
NM_000138.5(FBN1):c.239G>A (p.Cys80Tyr) rs397515767
NM_000138.5(FBN1):c.2410dup (p.Thr804fs) rs1597569560
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.2422del (p.Ile808fs)
NM_000138.5(FBN1):c.2431T>C (p.Cys811Arg)
NM_000138.5(FBN1):c.2432G>A (p.Cys811Tyr) rs1555399210
NM_000138.5(FBN1):c.2433C>G (p.Cys811Trp) rs193921256
NM_000138.5(FBN1):c.2446T>C (p.Cys816Arg) rs1555399206
NM_000138.5(FBN1):c.2447G>A (p.Cys816Tyr)
NM_000138.5(FBN1):c.2462G>A (p.Cys821Tyr) rs2043600123
NM_000138.5(FBN1):c.247+1G>A rs25404
NM_000138.5(FBN1):c.2483_2500del (p.Phe828_Ser833del) rs2141304189
NM_000138.5(FBN1):c.2489G>C (p.Cys830Ser) rs397515774
NM_000138.5(FBN1):c.2489G>T (p.Cys830Phe)
NM_000138.5(FBN1):c.2489_2492del (p.Cys830fs) rs2141304207
NM_000138.5(FBN1):c.2494T>C (p.Cys832Arg)
NM_000138.5(FBN1):c.2495G>A (p.Cys832Tyr) rs397515775
NM_000138.5(FBN1):c.2495G>C (p.Cys832Ser) rs397515775
NM_000138.5(FBN1):c.2495G>T (p.Cys832Phe) rs397515775
NM_000138.5(FBN1):c.2496T>G (p.Cys832Trp) rs397515776
NM_000138.5(FBN1):c.2506del (p.Ser836fs) rs1566911709
NM_000138.5(FBN1):c.2513del (p.Leu838fs) rs2141304158
NM_000138.5(FBN1):c.2524A>T (p.Lys842Ter) rs886038941
NM_000138.5(FBN1):c.2527del (p.Thr843fs) rs2043598968
NM_000138.5(FBN1):c.2539+1G>A rs794728192
NM_000138.5(FBN1):c.2539+1G>C rs794728192
NM_000138.5(FBN1):c.254G>A (p.Cys85Tyr)
NM_000138.5(FBN1):c.2559C>A (p.Cys853Ter) rs111981744
NM_000138.5(FBN1):c.2562G>A (p.Trp854Ter) rs1555399164
NM_000138.5(FBN1):c.256del (p.Arg86fs)
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.2615del (p.Lys872fs)
NM_000138.5(FBN1):c.2623T>A (p.Cys875Ser) rs1597568880
NM_000138.5(FBN1):c.2626T>C (p.Cys876Arg) rs1555399158
NM_000138.5(FBN1):c.2627G>A (p.Cys876Tyr) rs794728193
NM_000138.5(FBN1):c.2627_2628insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGTCCCAGTGCTG (p.Cys876fs)
NM_000138.5(FBN1):c.2628C>G (p.Cys876Trp) rs112085967
NM_000138.5(FBN1):c.2636T>C (p.Leu879Pro)
NM_000138.5(FBN1):c.2638G>A (p.Gly880Ser) rs794728194
NM_000138.5(FBN1):c.2638G>C (p.Gly880Arg) rs794728194
NM_000138.5(FBN1):c.2644G>A (p.Ala882Thr) rs2043594915
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val) rs794728195
NM_000138.5(FBN1):c.2647T>C (p.Trp883Arg) rs1555399150
NM_000138.5(FBN1):c.2648G>A (p.Trp883Ter) rs2141303557
NM_000138.5(FBN1):c.2649G>A (p.Trp883Ter) rs1597568822
NM_000138.5(FBN1):c.2651G>A (p.Gly884Glu) rs1555399149
NM_000138.5(FBN1):c.2657C>T (p.Pro886Leu) rs1060501083
NM_000138.5(FBN1):c.2659T>A (p.Cys887Ser) rs2141303537
NM_000138.5(FBN1):c.2660G>A (p.Cys887Tyr) rs2043594601
NM_000138.5(FBN1):c.2660G>C (p.Cys887Ser)
NM_000138.5(FBN1):c.266G>A (p.Cys89Tyr) rs112660651
NM_000138.5(FBN1):c.266G>T (p.Cys89Phe) rs112660651
NM_000138.5(FBN1):c.2677+1del rs2141303466
NM_000138.5(FBN1):c.2678-1G>T
NM_000138.5(FBN1):c.2678-2A>G rs1555399101
NM_000138.5(FBN1):c.2682_2685del (p.Ile895fs) rs2141302451
NM_000138.5(FBN1):c.2685dup (p.Cys896fs)
NM_000138.5(FBN1):c.2686T>C (p.Cys896Arg) rs2043584517
NM_000138.5(FBN1):c.2687G>A (p.Cys896Tyr) rs2141302442
NM_000138.5(FBN1):c.2719C>T (p.Gln907Ter) rs1597568290
NM_000138.5(FBN1):c.2722T>C (p.Cys908Arg) rs1060501021
NM_000138.5(FBN1):c.2729-1G>A rs1487002781
NM_000138.5(FBN1):c.2737G>T (p.Glu913Ter) rs1555398996
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.2745del (p.Val916fs) rs2043569925
NM_000138.5(FBN1):c.2762G>A (p.Cys921Tyr) rs2141300460
NM_000138.5(FBN1):c.2764A>T (p.Lys922Ter) rs2141300454
NM_000138.5(FBN1):c.2768del (p.Asn923fs) rs1597567246
NM_000138.5(FBN1):c.2776T>C (p.Cys926Arg) rs2141300401
NM_000138.5(FBN1):c.2777G>A (p.Cys926Tyr) rs1555398989
NM_000138.5(FBN1):c.2793del (p.Ser932fs) rs778900586
NM_000138.5(FBN1):c.2795C>G (p.Ser932Ter)
NM_000138.5(FBN1):c.2806C>T (p.Gln936Ter) rs794728197
NM_000138.5(FBN1):c.281G>A (p.Cys94Tyr)
NM_000138.5(FBN1):c.2848T>C (p.Cys950Arg) rs2141300266
NM_000138.5(FBN1):c.2850T>A (p.Cys950Ter)
NM_000138.5(FBN1):c.2854+1G>A
NM_000138.5(FBN1):c.2854+1G>T rs112809590
NM_000138.5(FBN1):c.2854+2T>C rs2043568077
NM_000138.5(FBN1):c.2854G>A (p.Asp952Asn) rs2141300251
NM_000138.5(FBN1):c.2857dup (p.Ile953fs) rs1555398837
NM_000138.5(FBN1):c.2860C>T (p.Arg954Cys) rs1555398835
NM_000138.5(FBN1):c.2861G>A (p.Arg954His) rs112911555
NM_000138.5(FBN1):c.2861G>C (p.Arg954Pro) rs112911555
NM_000138.5(FBN1):c.2876del (p.Phe959fs) rs2043545549
NM_000138.5(FBN1):c.2886C>A (p.Tyr962Ter) rs772108557
NM_000138.5(FBN1):c.2886C>G (p.Tyr962Ter)
NM_000138.5(FBN1):c.2887_2893del (p.Glu963fs) rs1555398832
NM_000138.5(FBN1):c.2896G>T (p.Glu966Ter) rs1555398830
NM_000138.5(FBN1):c.2901del (p.Glu966_Cys967insTer)
NM_000138.5(FBN1):c.2934dup (p.Ala979fs) rs1555398821
NM_000138.5(FBN1):c.293del (p.Asn98fs) rs2044650356
NM_000138.5(FBN1):c.2945G>C (p.Cys982Ser) rs1057524458
NM_000138.5(FBN1):c.2949del (p.Val984fs)
NM_000138.5(FBN1):c.2953G>A (p.Gly985Arg) rs794728199
NM_000138.5(FBN1):c.2962dup (p.Trp988fs)
NM_000138.5(FBN1):c.2963G>A (p.Trp988Ter) rs2043543553
NM_000138.5(FBN1):c.2964G>A (p.Trp988Ter)
NM_000138.5(FBN1):c.2966dup (p.Thr990fs)
NM_000138.5(FBN1):c.2979C>A (p.Cys993Ter)
NM_000138.5(FBN1):c.2980G>T (p.Glu994Ter)
NM_000138.5(FBN1):c.2982_2999del (p.Glu994_Asn1000delinsAsp)
NM_000138.5(FBN1):c.2986T>A (p.Cys996Ser) rs140592
NM_000138.5(FBN1):c.2986dup (p.Cys996fs) rs2043543231
NM_000138.5(FBN1):c.298T>C (p.Cys100Arg) rs1597631662
NM_000138.5(FBN1):c.2T>G (p.Met1Arg) rs886041536
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.3013G>T (p.Glu1005Ter) rs564713154
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.3037G>A (p.Gly1013Arg) rs140593
NM_000138.5(FBN1):c.3038del (p.Gly1013fs) rs2141297097
NM_000138.5(FBN1):c.3052G>T (p.Glu1018Ter) rs1597565298
NM_000138.5(FBN1):c.3055del (p.Ile1019fs)
NM_000138.5(FBN1):c.3061_3082+172del rs1555398753
NM_000138.5(FBN1):c.306C>G (p.Cys102Trp)
NM_000138.5(FBN1):c.3073_3074insA (p.Phe1025fs) rs1566910251
NM_000138.5(FBN1):c.3082+1G>A rs886038996
NM_000138.5(FBN1):c.3082+2T>C
NM_000138.5(FBN1):c.3083-1G>T rs2141295345
NM_000138.5(FBN1):c.3083-2A>C rs2043529474
NM_000138.5(FBN1):c.3083A>T (p.Asp1028Val) rs1131691317
NM_000138.5(FBN1):c.3089_3092del (p.Asn1030fs)
NM_000138.5(FBN1):c.3089del (p.Asn1030fs)
NM_000138.5(FBN1):c.3091G>T (p.Glu1031Ter) rs1555398685
NM_000138.5(FBN1):c.3095G>A (p.Cys1032Tyr) rs137854481
NM_000138.5(FBN1):c.3098del (p.Lys1033fs) rs1555398683
NM_000138.5(FBN1):c.309del (p.Ser104fs) rs2140733940
NM_000138.5(FBN1):c.3109_3112dup (p.Leu1038fs) rs2043529080
NM_000138.5(FBN1):c.3116G>A (p.Cys1039Tyr) rs2141295277
NM_000138.5(FBN1):c.3124G>A (p.Gly1042Ser) rs1555398681
NM_000138.5(FBN1):c.3128_3148del (p.Lys1043_Gly1049del)
NM_000138.5(FBN1):c.3130T>A (p.Cys1044Ser)
NM_000138.5(FBN1):c.3131G>A (p.Cys1044Tyr) rs730880100
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.3149del (p.Ser1050fs) rs2141295207
NM_000138.5(FBN1):c.3158G>A (p.Cys1053Tyr) rs2043528397
NM_000138.5(FBN1):c.3164G>A (p.Cys1055Tyr) rs397515786
NM_000138.5(FBN1):c.3165T>A (p.Cys1055Ter) rs1060501040
NM_000138.5(FBN1):c.3166del (p.Asp1056fs) rs1060501013
NM_000138.5(FBN1):c.3173G>A (p.Gly1058Asp) rs794728202
NM_000138.5(FBN1):c.3173G>T (p.Gly1058Val) rs794728202
NM_000138.5(FBN1):c.3181del (p.Asp1062fs)
NM_000138.5(FBN1):c.3193del (p.Glu1065fs) rs193922198
NM_000138.5(FBN1):c.3202T>C (p.Cys1068Arg) rs1293095681
NM_000138.5(FBN1):c.3204C>A (p.Cys1068Ter) rs886038248
NM_000138.5(FBN1):c.3211del (p.Ile1071fs) rs1597564038
NM_000138.5(FBN1):c.3217G>A (p.Glu1073Lys) rs137854478
NM_000138.5(FBN1):c.3217G>T (p.Glu1073Ter) rs137854478
NM_000138.5(FBN1):c.3218A>G (p.Glu1073Gly)
NM_000138.5(FBN1):c.3225_3228dup (p.Ser1077fs) rs2141294801
NM_000138.5(FBN1):c.3227dup (p.Ser1077fs) rs2141294808
NM_000138.5(FBN1):c.3253C>T (p.Gln1085Ter) rs1555398640
NM_000138.5(FBN1):c.3256T>G (p.Cys1086Gly) rs1555398637
NM_000138.5(FBN1):c.3269del (p.Pro1090fs) rs35656954
NM_000138.5(FBN1):c.3290G>A (p.Cys1097Tyr) rs1555398627
NM_000138.5(FBN1):c.3299G>A (p.Gly1100Asp)
NM_000138.5(FBN1):c.3302A>G (p.Tyr1101Cys) rs1555398625
NM_000138.5(FBN1):c.3318del (p.Met1106fs) rs2141294624
NM_000138.5(FBN1):c.331T>C (p.Cys111Arg)
NM_000138.5(FBN1):c.3320_3321del (p.Met1107fs) rs2141294618
NM_000138.5(FBN1):c.3337+1G>A rs397515789
NM_000138.5(FBN1):c.3337+1G>T rs397515789
NM_000138.5(FBN1):c.3337+1del rs1566909762
NM_000138.5(FBN1):c.3337+2T>C rs2141294575
NM_000138.5(FBN1):c.3338-1G>C rs2141293811
NM_000138.5(FBN1):c.3338A>G (p.Asp1113Gly) rs140597
NM_000138.5(FBN1):c.3344A>G (p.Asp1115Gly) rs794728203
NM_000138.5(FBN1):c.3349T>C (p.Cys1117Arg) rs2141293770
NM_000138.5(FBN1):c.3349del (p.Cys1117fs) rs1597563316
NM_000138.5(FBN1):c.3350G>A (p.Cys1117Tyr) rs137854470
NM_000138.5(FBN1):c.3362del (p.Pro1121fs)
NM_000138.5(FBN1):c.336dup (p.Ser113fs) rs1555405528
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.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.3407_3431dup (p.His1144delinsGlnProLeuTer)
NM_000138.5(FBN1):c.3407dup (p.Tyr1136Ter) rs2141293639
NM_000138.5(FBN1):c.3408C>A (p.Tyr1136Ter) rs1555398564
NM_000138.5(FBN1):c.3413G>C (p.Cys1138Ser) rs397515791
NM_000138.5(FBN1):c.3432dup (p.Gln1145fs) rs1566909483
NM_000138.5(FBN1):c.3458G>A (p.Cys1153Tyr) rs140599
NM_000138.5(FBN1):c.345del (p.Ile116fs)
NM_000138.5(FBN1):c.3463+1G>A rs397515792
NM_000138.5(FBN1):c.3464-1G>A rs2141293336
NM_000138.5(FBN1):c.3464-1del rs2141293337
NM_000138.5(FBN1):c.3464-6C>A
NM_000138.5(FBN1):c.3466_3467del (p.Ile1156fs)
NM_000138.5(FBN1):c.3473A>G (p.Glu1158Gly) rs1597562926
NM_000138.5(FBN1):c.3475T>C (p.Cys1159Arg) rs794728205
NM_000138.5(FBN1):c.3476G>A (p.Cys1159Tyr) rs1555398524
NM_000138.5(FBN1):c.3487_3488dup (p.Leu1165fs) rs2043515102
NM_000138.5(FBN1):c.3498C>A (p.Cys1166Ter)
NM_000138.5(FBN1):c.34G>T (p.Gly12Ter)
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.3518A>T (p.Asn1173Ile) rs1555398520
NM_000138.5(FBN1):c.3518_3538del (p.Asn1173_Cys1180delinsSer) rs1555398514
NM_000138.5(FBN1):c.3529A>T (p.Lys1177Ter)
NM_000138.5(FBN1):c.3538T>C (p.Cys1180Arg) rs2141293199
NM_000138.5(FBN1):c.3557del (p.Tyr1186fs) rs2043514354
NM_000138.5(FBN1):c.3558C>G (p.Tyr1186Ter) rs1555398510
NM_000138.5(FBN1):c.3583del (p.Cys1195fs) rs2141293095
NM_000138.5(FBN1):c.3595_3608dup (p.Ile1203fs) rs1566908947
NM_000138.5(FBN1):c.3613_3616del (p.Asn1205fs) rs2141291389
NM_000138.5(FBN1):c.3616G>T (p.Gly1206Cys) rs1555398411
NM_000138.5(FBN1):c.3624T>A (p.Cys1208Ter) rs765842423
NM_000138.5(FBN1):c.362_363dup (p.Arg122fs) rs2044551389
NM_000138.5(FBN1):c.3644_3645del (p.Asn1214_Ser1215insTer)
NM_000138.5(FBN1):c.364C>T (p.Arg122Cys) rs137854467
NM_000138.5(FBN1):c.3656dup (p.Tyr1219Ter) rs1555398395
NM_000138.5(FBN1):c.3661T>C (p.Cys1221Arg) rs2141291310
NM_000138.5(FBN1):c.3661dup (p.Cys1221fs)
NM_000138.5(FBN1):c.367del (p.Cys123fs) rs2140718246
NM_000138.5(FBN1):c.368G>A (p.Cys123Tyr) rs397515794
NM_000138.5(FBN1):c.368G>C (p.Cys123Ser) rs397515794
NM_000138.5(FBN1):c.3693_3697del (p.Asp1232fs)
NM_000138.5(FBN1):c.3697C>T (p.Gln1233Ter)
NM_000138.5(FBN1):c.3704C>G (p.Ser1235Ter) rs2141291261
NM_000138.5(FBN1):c.3704del (p.Ser1235fs)
NM_000138.5(FBN1):c.3707G>A (p.Cys1236Tyr) rs1555398377
NM_000138.5(FBN1):c.3712+1G>T rs794728209
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn) rs794728208
NM_000138.5(FBN1):c.3713-1G>T rs2141289776
NM_000138.5(FBN1):c.3713-2A>C
NM_000138.5(FBN1):c.3721_3732del (p.Glu1241_Asp1244del)
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.3745T>G (p.Cys1249Gly)
NM_000138.5(FBN1):c.3746G>A (p.Cys1249Tyr)
NM_000138.5(FBN1):c.3766A>C (p.Asn1256His) rs772890884
NM_000138.5(FBN1):c.3778G>T (p.Glu1260Ter) rs1555398283
NM_000138.5(FBN1):c.3788G>T (p.Cys1263Phe)
NM_000138.5(FBN1):c.3793_3799del (p.Cys1265fs) rs1555398276
NM_000138.5(FBN1):c.3794G>A (p.Cys1265Tyr)
NM_000138.5(FBN1):c.3794G>T (p.Cys1265Phe) rs1555398279
NM_000138.5(FBN1):c.3816del (p.Glu1273fs) rs2141289577
NM_000138.5(FBN1):c.3823_3830del (p.Met1275fs)
NM_000138.5(FBN1):c.3833G>A (p.Cys1278Tyr)
NM_000138.5(FBN1):c.3839_3846del (p.Asp1280fs) rs113603747
NM_000138.5(FBN1):c.3850T>A (p.Cys1284Ser) rs2043467154
NM_000138.5(FBN1):c.3850T>C (p.Cys1284Arg) rs2043467154
NM_000138.5(FBN1):c.3850dup (p.Cys1284fs)
NM_000138.5(FBN1):c.3851G>A (p.Cys1284Tyr) rs1555398173
NM_000138.5(FBN1):c.386G>A (p.Cys129Tyr) rs1566935517
NM_000138.5(FBN1):c.386G>T (p.Cys129Phe) rs1566935517
NM_000138.5(FBN1):c.3874del (p.Cys1291_Leu1292insTer) rs1597559048
NM_000138.5(FBN1):c.3878_3891del (p.Ser1293fs)
NM_000138.5(FBN1):c.3893del (p.Asn1298fs) rs869025425
NM_000138.5(FBN1):c.3895dup (p.Thr1299fs) rs1555398160
NM_000138.5(FBN1):c.3900_3903del (p.Lys1300fs) rs2043466554
NM_000138.5(FBN1):c.3901_3904dup (p.Ser1302fs) rs2141287379
NM_000138.5(FBN1):c.3902G>T (p.Gly1301Val) rs1566908083
NM_000138.5(FBN1):c.3902del (p.Gly1301fs) rs2141287396
NM_000138.5(FBN1):c.3906dup (p.Phe1303fs) rs2141287368
NM_000138.5(FBN1):c.3914G>A (p.Cys1305Tyr)
NM_000138.5(FBN1):c.3920G>A (p.Cys1307Tyr)
NM_000138.5(FBN1):c.3921_3922del (p.Cys1307_Asp1308delinsTer)
NM_000138.5(FBN1):c.3925dup (p.Met1309fs)
NM_000138.5(FBN1):c.3928G>A (p.Gly1310Ser)
NM_000138.5(FBN1):c.3929dup (p.Tyr1311fs) rs2141287336
NM_000138.5(FBN1):c.3945dup (p.Gly1316fs) rs1555398144
NM_000138.5(FBN1):c.3952dup (p.Thr1318fs) rs1566908063
NM_000138.5(FBN1):c.3958T>C (p.Cys1320Arg) rs1597558920
NM_000138.5(FBN1):c.3959G>C (p.Cys1320Ser) rs113393517
NM_000138.5(FBN1):c.3962dup (p.Asp1322fs) rs1555398137
NM_000138.5(FBN1):c.3964+2T>C
NM_000138.5(FBN1):c.3973G>T (p.Glu1325Ter) rs2141280296
NM_000138.5(FBN1):c.3973dup (p.Glu1325fs) rs1555397743
NM_000138.5(FBN1):c.3976T>C (p.Cys1326Arg)
NM_000138.5(FBN1):c.3977G>A (p.Cys1326Tyr) rs1555397738
NM_000138.5(FBN1):c.3977del (p.Cys1326fs) rs2141280278
NM_000138.5(FBN1):c.3998G>A (p.Cys1333Tyr) rs2043405073
NM_000138.5(FBN1):c.3999_4000del (p.Cys1333fs)
NM_000138.5(FBN1):c.3G>A (p.Met1Ile) rs886039072
NM_000138.5(FBN1):c.4002_4003del (p.Lys1335fs) rs2141280251
NM_000138.5(FBN1):c.4003_4004insCACAACTCTGGCA (p.Lys1335fs) rs1555397733
NM_000138.5(FBN1):c.400T>C (p.Cys134Arg) rs1555405044
NM_000138.5(FBN1):c.4011del (p.Val1338fs) rs2043404959
NM_000138.5(FBN1):c.4011dup (p.Val1338fs)
NM_000138.5(FBN1):c.4016G>A (p.Cys1339Tyr) rs397515798
NM_000138.5(FBN1):c.401G>A (p.Cys134Tyr) rs1555405043
NM_000138.5(FBN1):c.4020del (p.Asn1341fs) rs2141280222
NM_000138.5(FBN1):c.4022A>G (p.Asn1341Ser) rs140638
NM_000138.5(FBN1):c.4024dup (p.Thr1342fs)
NM_000138.5(FBN1):c.4029del (p.Gly1344fs) rs2043404761
NM_000138.5(FBN1):c.4031G>A (p.Gly1344Glu) rs1555397725
NM_000138.5(FBN1):c.4042T>C (p.Cys1348Arg) rs2141280160
NM_000138.5(FBN1):c.4043G>A (p.Cys1348Tyr) rs1555397720
NM_000138.5(FBN1):c.4043G>T (p.Cys1348Phe) rs1555397720
NM_000138.5(FBN1):c.4044T>G (p.Cys1348Trp) rs1555397719
NM_000138.5(FBN1):c.4048T>C (p.Cys1350Arg) rs397515799
NM_000138.5(FBN1):c.4049G>A (p.Cys1350Tyr) rs1555397718
NM_000138.5(FBN1):c.4056del (p.Trp1354fs) rs1555397713
NM_000138.5(FBN1):c.406T>G (p.Cys136Gly) rs1555405041
NM_000138.5(FBN1):c.406dup (p.Cys136fs) rs1555405042
NM_000138.5(FBN1):c.4079del (p.Lys1360fs) rs2141280061
NM_000138.5(FBN1):c.407G>A (p.Cys136Tyr)
NM_000138.5(FBN1):c.407G>T (p.Cys136Phe)
NM_000138.5(FBN1):c.4082G>A (p.Cys1361Tyr) rs1555397704
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.4098dup (p.Cys1367fs)
NM_000138.5(FBN1):c.409C>T (p.Gln137Ter) rs1060501047
NM_000138.5(FBN1):c.40dup (p.Thr14fs)
NM_000138.5(FBN1):c.4101T>A (p.Cys1367Ter)
NM_000138.5(FBN1):c.4121G>A (p.Cys1374Tyr) rs2141279835
NM_000138.5(FBN1):c.4145dup (p.Asn1382fs) rs1555397663
NM_000138.5(FBN1):c.4154del (p.Gly1385fs) rs2043402092
NM_000138.5(FBN1):c.415G>T (p.Gly139Ter)
NM_000138.5(FBN1):c.4161C>A (p.Tyr1387Ter)
NM_000138.5(FBN1):c.4163G>C (p.Arg1388Pro) rs749196340
NM_000138.5(FBN1):c.4166G>A (p.Cys1389Tyr) rs1060501026
NM_000138.5(FBN1):c.4166G>C (p.Cys1389Ser) rs1060501026
NM_000138.5(FBN1):c.4172G>A (p.Cys1391Tyr) rs1352478541
NM_000138.5(FBN1):c.4177_4199del (p.Glu1393fs) rs1566906389
NM_000138.5(FBN1):c.4177del (p.Glu1393fs) rs2043401705
NM_000138.5(FBN1):c.4179_4182del (p.Glu1393fs)
NM_000138.5(FBN1):c.4180G>T (p.Gly1394Ter) rs2141279711
NM_000138.5(FBN1):c.4188del (p.Gly1397fs) rs1555397652
NM_000138.5(FBN1):c.4205G>A (p.Cys1402Tyr) rs1555397646
NM_000138.5(FBN1):c.4210+1G>A rs730880106
NM_000138.5(FBN1):c.4222T>A (p.Cys1408Ser)
NM_000138.5(FBN1):c.4222T>C (p.Cys1408Arg) rs397515802
NM_000138.5(FBN1):c.4226_4227del (p.Cys1408_Ser1409insTer) rs1566905976
NM_000138.5(FBN1):c.4252_4253insCATT (p.Gly1418fs)
NM_000138.5(FBN1):c.4258T>C (p.Cys1420Arg) rs2043386188
NM_000138.5(FBN1):c.4259G>A (p.Cys1420Tyr) rs397515804
NM_000138.5(FBN1):c.4259G>C (p.Cys1420Ser)
NM_000138.5(FBN1):c.4259G>T (p.Cys1420Phe) rs397515804
NM_000138.5(FBN1):c.4270C>T (p.Pro1424Ser) rs201273753
NM_000138.5(FBN1):c.4280dup (p.Tyr1427Ter)
NM_000138.5(FBN1):c.4281C>A (p.Tyr1427Ter) rs2141277951
NM_000138.5(FBN1):c.4286G>A (p.Cys1429Tyr) rs1555397545
NM_000138.5(FBN1):c.4292G>A (p.Cys1431Tyr) rs1555397540
NM_000138.5(FBN1):c.4293C>A (p.Cys1431Ter) rs112375043
NM_000138.5(FBN1):c.4293C>G (p.Cys1431Trp) rs112375043
NM_000138.5(FBN1):c.4302del (p.Phe1435fs) rs2043385268
NM_000138.5(FBN1):c.4311del (p.Ser1438fs) rs2141277871
NM_000138.5(FBN1):c.4330T>A (p.Cys1444Ser) rs869025406
NM_000138.5(FBN1):c.4331G>C (p.Cys1444Ser) rs886038940
NM_000138.5(FBN1):c.4332T>G (p.Cys1444Trp) rs2141277826
NM_000138.5(FBN1):c.4336+1G>A rs2141277821
NM_000138.5(FBN1):c.4336+1G>T rs2141277821
NM_000138.5(FBN1):c.4336G>A (p.Asp1446Asn) rs794728221
NM_000138.5(FBN1):c.4337-1G>T rs1555397424
NM_000138.5(FBN1):c.4337-2A>T rs794728216
NM_000138.5(FBN1):c.4341_4344del (p.Ile1447fs)
NM_000138.5(FBN1):c.4345_4346insCACT (p.Glu1449fs) rs2043366702
NM_000138.5(FBN1):c.4348T>C (p.Cys1450Arg) rs1555397421
NM_000138.5(FBN1):c.4349G>A (p.Cys1450Tyr) rs1555397419
NM_000138.5(FBN1):c.4349G>T (p.Cys1450Phe) rs1555397419
NM_000138.5(FBN1):c.434G>A (p.Cys145Tyr) rs878853682
NM_000138.5(FBN1):c.4369_4370del (p.Val1457fs) rs1060501043
NM_000138.5(FBN1):c.4381T>C (p.Cys1461Arg) rs2141275778
NM_000138.5(FBN1):c.4382G>A (p.Cys1461Tyr) rs1057522902
NM_000138.5(FBN1):c.4382G>C (p.Cys1461Ser) rs1057522902
NM_000138.5(FBN1):c.4382G>T (p.Cys1461Phe) rs1057522902
NM_000138.5(FBN1):c.4410_4411del (p.Cys1470_Glu1471delinsTer) rs2141275703
NM_000138.5(FBN1):c.4410dup (p.Glu1471Ter) rs2043365502
NM_000138.5(FBN1):c.4412_4415del (p.Glu1471fs) rs886038846
NM_000138.5(FBN1):c.4414T>A (p.Cys1472Ser) rs1555397403
NM_000138.5(FBN1):c.4414T>C (p.Cys1472Arg) rs1555397403
NM_000138.5(FBN1):c.441del (p.Gln147fs) rs1555405028
NM_000138.5(FBN1):c.443-1G>A rs1555404821
NM_000138.5(FBN1):c.4437C>G (p.Asp1479Glu) rs370161725
NM_000138.5(FBN1):c.4453T>C (p.Cys1485Arg) rs730880101
NM_000138.5(FBN1):c.4453T>G (p.Cys1485Gly) rs730880101
NM_000138.5(FBN1):c.4454G>C (p.Cys1485Ser) rs111978932
NM_000138.5(FBN1):c.4459+1G>A
NM_000138.5(FBN1):c.4460-1G>T
NM_000138.5(FBN1):c.4460-9C>A rs372753740
NM_000138.5(FBN1):c.4460A>G (p.Asp1487Gly) rs1555397216
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.4471T>C (p.Cys1491Arg) rs2141273081
NM_000138.5(FBN1):c.4472G>A (p.Cys1491Tyr)
NM_000138.5(FBN1):c.4472G>T (p.Cys1491Phe) rs2141273076
NM_000138.5(FBN1):c.4473C>G (p.Cys1491Trp) rs2043341787
NM_000138.5(FBN1):c.448T>C (p.Cys150Arg) rs1555404819
NM_000138.5(FBN1):c.4491C>A (p.Cys1497Ter) rs2043341481
NM_000138.5(FBN1):c.449G>A (p.Cys150Tyr) rs2140711857
NM_000138.5(FBN1):c.4504T>C (p.Cys1502Arg) rs2141273019
NM_000138.5(FBN1):c.4505G>A (p.Cys1502Tyr) rs397515810
NM_000138.5(FBN1):c.4506T>A (p.Cys1502Ter)
NM_000138.5(FBN1):c.4511A>G (p.Asn1504Ser) rs1555397209
NM_000138.5(FBN1):c.4517del (p.Pro1506fs) rs2141272985
NM_000138.5(FBN1):c.4520G>A (p.Gly1507Asp) rs794728225
NM_000138.5(FBN1):c.4531T>C (p.Cys1511Arg) rs397515811
NM_000138.5(FBN1):c.4532G>A (p.Cys1511Tyr) rs1060501074
NM_000138.5(FBN1):c.4532del (p.Cys1511fs)
NM_000138.5(FBN1):c.4537T>G (p.Cys1513Gly)
NM_000138.5(FBN1):c.4539C>G (p.Cys1513Trp) rs1555397203
NM_000138.5(FBN1):c.4544_4546delinsAGAT (p.Pro1515fs)
NM_000138.5(FBN1):c.4549T>A (p.Phe1517Ile)
NM_000138.5(FBN1):c.4555del (p.Glu1518_Leu1519insTer) rs1555397199
NM_000138.5(FBN1):c.4562dup (p.Thr1522fs)
NM_000138.5(FBN1):c.4567C>T (p.Arg1523Ter) rs397515812
NM_000138.5(FBN1):c.4576T>C (p.Cys1526Arg)
NM_000138.5(FBN1):c.4577G>C (p.Cys1526Ser)
NM_000138.5(FBN1):c.4581_4582del (p.Asp1528fs) rs2141272855
NM_000138.5(FBN1):c.4582+1G>A rs1555397195
NM_000138.5(FBN1):c.4582+1G>T rs1555397195
NM_000138.5(FBN1):c.4582+2dup rs1555397194
NM_000138.5(FBN1):c.4583-2A>G
NM_000138.5(FBN1):c.4583-9G>A rs2043338449
NM_000138.5(FBN1):c.4585dup (p.Thr1529fs) rs2141272535
NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys) rs111401431
NM_000138.5(FBN1):c.4588del (p.Arg1530fs) rs2043338241
NM_000138.5(FBN1):c.4591del (p.Ser1531fs) rs2141272501
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.4615C>T (p.Arg1539Ter) rs111231312
NM_000138.5(FBN1):c.461G>C (p.Cys154Ser) rs1057521103
NM_000138.5(FBN1):c.4621C>T (p.Arg1541Ter) rs794728228
NM_000138.5(FBN1):c.4625_4626delinsATAATCTCCATTC (p.Gly1542fs) rs2043337762
NM_000138.5(FBN1):c.4639dup (p.Thr1547fs) rs1597548734
NM_000138.5(FBN1):c.465del (p.Asn156fs) rs2044515899
NM_000138.5(FBN1):c.4660G>T (p.Gly1554Ter) rs2043337443
NM_000138.5(FBN1):c.4688G>A (p.Cys1563Tyr) rs1131691871
NM_000138.5(FBN1):c.4689C>G (p.Cys1563Trp) rs2043337073
NM_000138.5(FBN1):c.4691G>A (p.Cys1564Tyr) rs267606800
NM_000138.5(FBN1):c.4704_4707dup (p.Trp1570fs)
NM_000138.5(FBN1):c.4710G>A (p.Trp1570Ter) rs267606799
NM_000138.5(FBN1):c.4723G>T (p.Glu1575Ter) rs2141272276
NM_000138.5(FBN1):c.4731T>A (p.Cys1577Ter) rs2141272261
NM_000138.5(FBN1):c.4745del (p.Thr1582fs) rs2043336561
NM_000138.5(FBN1):c.4747+5G>A rs193922209
NM_000138.5(FBN1):c.4766G>T (p.Cys1589Phe) rs1555397024
NM_000138.5(FBN1):c.4767dup (p.Pro1590fs)
NM_000138.5(FBN1):c.4777del (p.Glu1593fs) rs2141269976
NM_000138.5(FBN1):c.4786C>T (p.Arg1596Ter) rs113871094
NM_000138.5(FBN1):c.478T>C (p.Cys160Arg) rs1057518973
NM_000138.5(FBN1):c.478T>G (p.Cys160Gly)
NM_000138.5(FBN1):c.479G>A (p.Cys160Tyr) rs1555404810
NM_000138.5(FBN1):c.479G>C (p.Cys160Ser)
NM_000138.5(FBN1):c.4811T>A (p.Leu1604Ter)
NM_000138.5(FBN1):c.4815del (p.Asp1606fs) rs2141269914
NM_000138.5(FBN1):c.4816+1G>C rs1555397014
NM_000138.5(FBN1):c.4816+1G>T rs1555397014
NM_000138.5(FBN1):c.4816+2T>C rs1597547226
NM_000138.5(FBN1):c.4825G>T (p.Glu1609Ter) rs2141269766
NM_000138.5(FBN1):c.4829_4838dup (p.Leu1616fs) rs1597547075
NM_000138.5(FBN1):c.4852C>T (p.Gln1618Ter) rs2141269730
NM_000138.5(FBN1):c.4864T>C (p.Cys1622Arg)
NM_000138.5(FBN1):c.4875del (p.Phe1626fs)
NM_000138.5(FBN1):c.4881del (p.Ser1628fs) rs2043314519
NM_000138.5(FBN1):c.4893C>A (p.Cys1631Ter) rs1597547030
NM_000138.5(FBN1):c.4907del (p.Gly1636fs)
NM_000138.5(FBN1):c.4911C>A (p.Tyr1637Ter) rs1566903921
NM_000138.5(FBN1):c.4915del (p.Tyr1638_Leu1639insTer) rs2141269593
NM_000138.5(FBN1):c.491del (p.Asn164fs) rs2044515447
NM_000138.5(FBN1):c.4930C>T (p.Arg1644Ter) rs140630
NM_000138.5(FBN1):c.4936T>A (p.Cys1646Ser) rs1064793115
NM_000138.5(FBN1):c.493C>T (p.Arg165Ter) rs113905529
NM_000138.5(FBN1):c.4942+1G>A rs1566903907
NM_000138.5(FBN1):c.4942+2T>C rs2141269534
NM_000138.5(FBN1):c.4942G>A (p.Asp1648Asn) rs397515816
NM_000138.5(FBN1):c.4943-1G>C rs1555396863
NM_000138.5(FBN1):c.4955G>A (p.Cys1652Tyr) rs397515817
NM_000138.5(FBN1):c.4962del (p.Pro1655fs)
NM_000138.5(FBN1):c.4965del (p.Gly1656fs) rs1555396861
NM_000138.5(FBN1):c.496T>A (p.Cys166Ser) rs363852
NM_000138.5(FBN1):c.496T>C (p.Cys166Arg) rs363852
NM_000138.5(FBN1):c.4971_4972del (p.Ile1657fs) rs2141267737
NM_000138.5(FBN1):c.4973G>A (p.Cys1658Tyr) rs1555396859
NM_000138.5(FBN1):c.497G>A (p.Cys166Tyr) rs397515818
NM_000138.5(FBN1):c.4988G>T (p.Cys1663Phe) rs1555396853
NM_000138.5(FBN1):c.4989_4990insGGTCCAGGGTCCTGGAATCTGTGGTCCAGGT (p.Tyr1664fs)
NM_000138.5(FBN1):c.4994A>C (p.Asn1665Thr)
NM_000138.5(FBN1):c.5009_5020del (p.Tyr1670_Ile1673del)
NM_000138.5(FBN1):c.5014T>G (p.Cys1672Gly) rs112930491
NM_000138.5(FBN1):c.5015G>T (p.Cys1672Phe) rs140627
NM_000138.5(FBN1):c.5016T>A (p.Cys1672Ter) rs1555396848
NM_000138.5(FBN1):c.5016dup (p.Ile1673fs) rs869025426
NM_000138.5(FBN1):c.5021G>A (p.Cys1674Tyr) rs794728233
NM_000138.5(FBN1):c.5021_5022del (p.Cys1674fs)
NM_000138.5(FBN1):c.502T>A (p.Cys168Ser) rs2044515247
NM_000138.5(FBN1):c.502T>C (p.Cys168Arg) rs2044515247
NM_000138.5(FBN1):c.5038C>T (p.Gln1680Ter) rs878853685
NM_000138.5(FBN1):c.503G>A (p.Cys168Tyr) rs1555404803
NM_000138.5(FBN1):c.5054del (p.Asn1685fs)
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.5066-1G>A rs397515819
NM_000138.5(FBN1):c.5066-1G>T rs397515819
NM_000138.5(FBN1):c.5073AAG[1] (p.Arg1692del) rs1555396789
NM_000138.5(FBN1):c.5084G>A (p.Cys1695Tyr)
NM_000138.5(FBN1):c.5087A>G (p.Tyr1696Cys) rs387906625
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.509dup (p.Tyr170Ter)
NM_000138.5(FBN1):c.510C>G (p.Tyr170Ter) rs111671429
NM_000138.5(FBN1):c.5111del (p.Gln1704fs) rs2141266677
NM_000138.5(FBN1):c.5117G>A (p.Cys1706Tyr)
NM_000138.5(FBN1):c.511G>T (p.Gly171Ter) rs1566934693
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.5159G>A (p.Cys1720Tyr)
NM_000138.5(FBN1):c.5160C>G (p.Cys1720Trp)
NM_000138.5(FBN1):c.5162G>A (p.Cys1721Tyr) rs2043292594
NM_000138.5(FBN1):c.5174T>A (p.Ile1725Asn) rs2141266590
NM_000138.5(FBN1):c.5182G>C (p.Ala1728Pro) rs387906624
NM_000138.5(FBN1):c.5182_5183delinsTA (p.Ala1728Ter)
NM_000138.5(FBN1):c.5183C>T (p.Ala1728Val) rs1131691804
NM_000138.5(FBN1):c.5189del (p.Asn1730fs) rs2043292163
NM_000138.5(FBN1):c.5190del (p.Asn1730fs) rs2043292112
NM_000138.5(FBN1):c.51_52del (p.Leu17fs) rs2140787769
NM_000138.5(FBN1):c.5203dup (p.Gln1735fs) rs1555396760
NM_000138.5(FBN1):c.5242T>C (p.Cys1748Arg)
NM_000138.5(FBN1):c.5244T>G (p.Cys1748Trp)
NM_000138.5(FBN1):c.5244_5245del (p.Cys1748fs) rs1555396636
NM_000138.5(FBN1):c.5284G>A (p.Gly1762Ser) rs387906623
NM_000138.5(FBN1):c.5296+1G>A
NM_000138.5(FBN1):c.5296+2T>G
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.5305G>A (p.Glu1769Lys) rs2141260472
NM_000138.5(FBN1):c.530G>A (p.Cys177Tyr) rs113695103
NM_000138.5(FBN1):c.5311dup (p.Arg1771fs) rs1597540923
NM_000138.5(FBN1):c.5338G>A (p.Gly1780Arg)
NM_000138.5(FBN1):c.5339G>A (p.Gly1780Glu)
NM_000138.5(FBN1):c.5339G>T (p.Gly1780Val) rs2141260428
NM_000138.5(FBN1):c.5368C>T (p.Arg1790Ter) rs113249837
NM_000138.5(FBN1):c.5371T>C (p.Cys1791Arg) rs1555396427
NM_000138.5(FBN1):c.5371T>G (p.Cys1791Gly) rs1555396427
NM_000138.5(FBN1):c.5372G>A (p.Cys1791Tyr) rs886038848
NM_000138.5(FBN1):c.5377T>C (p.Cys1793Arg) rs1555396424
NM_000138.5(FBN1):c.5387del (p.Gly1796fs) rs2043240342
NM_000138.5(FBN1):c.539-2A>G rs2141358521
NM_000138.5(FBN1):c.5396dup (p.Tyr1799Ter)
NM_000138.5(FBN1):c.5416T>C (p.Cys1806Arg) rs1555396419
NM_000138.5(FBN1):c.5417G>T (p.Cys1806Phe) rs1555396418
NM_000138.5(FBN1):c.5418T>G (p.Cys1806Trp) rs2043239853
NM_000138.5(FBN1):c.5422+1G>A rs1064793116
NM_000138.5(FBN1):c.5422+2T>C rs1555396417
NM_000138.5(FBN1):c.5423-1G>C
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.5434T>A (p.Cys1812Ser)
NM_000138.5(FBN1):c.5434T>C (p.Cys1812Arg) rs1597537935
NM_000138.5(FBN1):c.5435_5436del (p.Cys1812fs)
NM_000138.5(FBN1):c.5437C>T (p.Gln1813Ter) rs397515821
NM_000138.5(FBN1):c.5447del (p.Pro1816fs)
NM_000138.5(FBN1):c.5453G>A (p.Cys1818Tyr) rs2141256069
NM_000138.5(FBN1):c.5459_5465del (p.Arg1820fs)
NM_000138.5(FBN1):c.5470T>C (p.Cys1824Arg) rs1131691478
NM_000138.5(FBN1):c.5486dup (p.Ser1830fs)
NM_000138.5(FBN1):c.5493C>A (p.Tyr1831Ter) rs1555396201
NM_000138.5(FBN1):c.5498G>A (p.Cys1833Tyr) rs1597537815
NM_000138.5(FBN1):c.5503T>A (p.Cys1835Ser) rs1555396198
NM_000138.5(FBN1):c.5503T>C (p.Cys1835Arg) rs1555396198
NM_000138.5(FBN1):c.5503_5517del (p.Cys1835_Tyr1839del) rs2141255919
NM_000138.5(FBN1):c.5504G>A (p.Cys1835Tyr) rs111929350
NM_000138.5(FBN1):c.5504G>C (p.Cys1835Ser) rs111929350
NM_000138.5(FBN1):c.5513G>A (p.Gly1838Asp) rs78970689
NM_000138.5(FBN1):c.5513del (p.Gly1838fs) rs2141255941
NM_000138.5(FBN1):c.551del (p.Gly184fs)
NM_000138.5(FBN1):c.5533G>T (p.Gly1845Ter)
NM_000138.5(FBN1):c.5534del (p.Gly1845fs) rs2141255875
NM_000138.5(FBN1):c.5536C>T (p.Gln1846Ter) rs1566900473
NM_000138.5(FBN1):c.5540G>A (p.Cys1847Tyr) rs1555396185
NM_000138.5(FBN1):c.5555A>G (p.Glu1852Gly) rs864622676
NM_000138.5(FBN1):c.5557T>C (p.Cys1853Arg) rs1555395990
NM_000138.5(FBN1):c.5559T>G (p.Cys1853Trp)
NM_000138.5(FBN1):c.5560C>T (p.Gln1854Ter) rs2141252259
NM_000138.5(FBN1):c.5563G>T (p.Glu1855Ter)
NM_000138.5(FBN1):c.5571del (p.Asn1858fs) rs1597535305
NM_000138.5(FBN1):c.5578T>C (p.Cys1860Arg)
NM_000138.5(FBN1):c.5579G>A (p.Cys1860Tyr) rs1597535300
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.5607dup (p.Gly1870fs)
NM_000138.5(FBN1):c.5613del (p.Tyr1873fs) rs1566899541
NM_000138.5(FBN1):c.5627G>A (p.Cys1876Tyr) rs112728248
NM_000138.5(FBN1):c.5656C>T (p.Gln1886Ter)
NM_000138.5(FBN1):c.565del (p.Thr188_Val189insTer) rs2141358467
NM_000138.5(FBN1):c.5666G>T (p.Cys1889Phe) rs1566899500
NM_000138.5(FBN1):c.5667C>G (p.Cys1889Trp)
NM_000138.5(FBN1):c.5671+1G>A rs112104270
NM_000138.5(FBN1):c.5671+1G>T rs112104270
NM_000138.5(FBN1):c.5671+2T>C
NM_000138.5(FBN1):c.5671G>A (p.Asp1891Asn) rs193922216
NM_000138.5(FBN1):c.5672-1G>A rs1555395849
NM_000138.5(FBN1):c.5672-2A>G rs1060501053
NM_000138.5(FBN1):c.5674del (p.Asp1891_Ile1892insTer)
NM_000138.5(FBN1):c.5683T>C (p.Cys1895Arg) rs878853686
NM_000138.5(FBN1):c.5684G>A (p.Cys1895Tyr)
NM_000138.5(FBN1):c.5688_5691del (p.Arg1897fs) rs1566898828
NM_000138.5(FBN1):c.5695del (p.Ala1899fs) rs2043163540
NM_000138.5(FBN1):c.5698T>C (p.Cys1900Arg)
NM_000138.5(FBN1):c.5699G>A (p.Cys1900Tyr) rs794728237
NM_000138.5(FBN1):c.5703del (p.Asn1902fs)
NM_000138.5(FBN1):c.5714G>T (p.Cys1905Phe)
NM_000138.5(FBN1):c.5716del (p.Arg1906fs) rs2141250394
NM_000138.5(FBN1):c.5726T>C (p.Ile1909Thr) rs794728333
NM_000138.5(FBN1):c.5729G>T (p.Gly1910Val)
NM_000138.5(FBN1):c.5743C>T (p.Arg1915Cys) rs1555395826
NM_000138.5(FBN1):c.5746T>G (p.Cys1916Gly) rs794728238
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.5756del (p.Gly1919fs) rs1555395825
NM_000138.5(FBN1):c.577_583delinsAA (p.Gln193fs) rs2044026528
NM_000138.5(FBN1):c.5782T>C (p.Cys1928Arg) rs2043162224
NM_000138.5(FBN1):c.5783G>A (p.Cys1928Tyr) rs587782947
NM_000138.5(FBN1):c.5788+6T>G rs1566898741
NM_000138.5(FBN1):c.5788G>C (p.Asp1930His) rs1555395820
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.5817del (p.Asn1940fs) rs794728311
NM_000138.5(FBN1):c.5823_5824del (p.Cys1942fs) rs1060501089
NM_000138.5(FBN1):c.5824T>C (p.Cys1942Arg) rs1555395762
NM_000138.5(FBN1):c.5831del (p.Asn1944fs)
NM_000138.5(FBN1):c.5836C>T (p.Gln1946Ter)
NM_000138.5(FBN1):c.5839T>A (p.Cys1947Ser) rs1131691938
NM_000138.5(FBN1):c.5839T>G (p.Cys1947Gly) rs1131691938
NM_000138.5(FBN1):c.5840G>A (p.Cys1947Tyr) rs397515828
NM_000138.5(FBN1):c.5846_5850dup (p.Val1951fs) rs2043151379
NM_000138.5(FBN1):c.5856del (p.Ser1953fs)
NM_000138.5(FBN1):c.5860_5863dup (p.Gln1955fs) rs2043151079
NM_000138.5(FBN1):c.5863C>T (p.Gln1955Ter) rs363807
NM_000138.5(FBN1):c.5872T>A (p.Cys1958Ser) rs2141249174
NM_000138.5(FBN1):c.5874C>A (p.Cys1958Ter) rs1555395750
NM_000138.5(FBN1):c.5911T>C (p.Cys1971Arg) rs1555395745
NM_000138.5(FBN1):c.5912del (p.Cys1971fs) rs2043150170
NM_000138.5(FBN1):c.5917+1G>A rs363808
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.5926del (p.Glu1976fs)
NM_000138.5(FBN1):c.5927A>C (p.Glu1976Ala) rs1555395665
NM_000138.5(FBN1):c.592C>T (p.Gln198Ter) rs1060501035
NM_000138.5(FBN1):c.5930G>A (p.Cys1977Tyr) rs1555395663
NM_000138.5(FBN1):c.5931T>A (p.Cys1977Ter)
NM_000138.5(FBN1):c.5937_5938insT (p.Glu1980Ter) rs2141248157
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.5960G>C (p.Gly1987Ala) rs2043140093
NM_000138.5(FBN1):c.5967T>G (p.Cys1989Trp) rs1555395652
NM_000138.5(FBN1):c.5971_5972del (p.Asn1991fs)
NM_000138.5(FBN1):c.5978del (p.Asp1993fs) rs2043139896
NM_000138.5(FBN1):c.5993G>A (p.Cys1998Tyr) rs1085307531
NM_000138.5(FBN1):c.5994C>G (p.Cys1998Trp) rs1555395648
NM_000138.5(FBN1):c.5998del (p.Cys2000fs) rs1367820520
NM_000138.5(FBN1):c.6012_6013del (p.Tyr2004_Ser2005delinsTer)
NM_000138.5(FBN1):c.6023del (p.Asn2008fs) rs1555395640
NM_000138.5(FBN1):c.6029del (p.Lys2010fs) rs2141248004
NM_000138.5(FBN1):c.6030del (p.Lys2010fs)
NM_000138.5(FBN1):c.6031T>C (p.Cys2011Arg) rs2141248001
NM_000138.5(FBN1):c.6032G>A (p.Cys2011Tyr) rs886038967
NM_000138.5(FBN1):c.6034G>T (p.Glu2012Ter) rs2141247988
NM_000138.5(FBN1):c.6037+2T>C rs2043139226
NM_000138.5(FBN1):c.6038-1G>A rs1555395489
NM_000138.5(FBN1):c.603del (p.Ile202fs) rs2141358361
NM_000138.5(FBN1):c.6046G>A (p.Glu2016Lys) rs2141245531
NM_000138.5(FBN1):c.6048_6056del (p.Cys2017_Glu2019del) rs1555395483
NM_000138.5(FBN1):c.6049T>C (p.Cys2017Arg) rs1555395486
NM_000138.5(FBN1):c.6050G>A (p.Cys2017Tyr) rs2141245523
NM_000138.5(FBN1):c.6051T>G (p.Cys2017Trp) rs1566897420
NM_000138.5(FBN1):c.6052_6053del (p.Val2018fs) rs2043117611
NM_000138.5(FBN1):c.6059_6080del (p.Glu2020fs)
NM_000138.5(FBN1):c.6068_6069insCCCTT (p.Cys2024fs) rs2141245482
NM_000138.5(FBN1):c.6071G>A (p.Cys2024Tyr) rs1597529826
NM_000138.5(FBN1):c.6071G>T (p.Cys2024Phe) rs1597529826
NM_000138.5(FBN1):c.6087C>A (p.Cys2029Ter) rs1555395475
NM_000138.5(FBN1):c.6090dup (p.Asn2031Ter) rs1597529775
NM_000138.5(FBN1):c.609_630del (p.Cys204fs)
NM_000138.5(FBN1):c.6113del (p.Cys2038fs) rs2141245408
NM_000138.5(FBN1):c.6120T>G (p.Cys2040Trp)
NM_000138.5(FBN1):c.6121_6130del (p.Pro2041fs) rs2043116708
NM_000138.5(FBN1):c.6126del (p.Ser2045fs)
NM_000138.5(FBN1):c.6139del (p.Ser2047fs) rs2043116624
NM_000138.5(FBN1):c.6145del (p.Ser2049fs)
NM_000138.5(FBN1):c.6151A>T (p.Arg2051Ter)
NM_000138.5(FBN1):c.6157T>A (p.Cys2053Ser)
NM_000138.5(FBN1):c.6158G>A (p.Cys2053Tyr) rs363805
NM_000138.5(FBN1):c.6159C>A (p.Cys2053Ter) rs1060501095
NM_000138.5(FBN1):c.6164-1G>T
NM_000138.5(FBN1):c.6164-3_6164-1del rs2043085905
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.6180C>A (p.Tyr2060Ter)
NM_000138.5(FBN1):c.6180C>G (p.Tyr2060Ter) rs974604498
NM_000138.5(FBN1):c.6199G>T (p.Gly2067Ter) rs1342803259
NM_000138.5(FBN1):c.6215C>A (p.Ser2072Ter) rs2043085394
NM_000138.5(FBN1):c.621del (p.Leu208fs) rs2141358303
NM_000138.5(FBN1):c.6244G>T (p.Glu2082Ter) rs1052480459
NM_000138.5(FBN1):c.6249_6254del (p.Cys2084_Cys2085del) rs2141241487
NM_000138.5(FBN1):c.6250_6253dup (p.Cys2085fs)
NM_000138.5(FBN1):c.6253T>G (p.Cys2085Gly) rs2141241496
NM_000138.5(FBN1):c.6266del (p.Gly2089fs) rs1597526729
NM_000138.5(FBN1):c.626G>C (p.Cys209Ser) rs1555401687
NM_000138.5(FBN1):c.626G>T (p.Cys209Phe) rs1555401687
NM_000138.5(FBN1):c.6276G>A (p.Trp2092Ter) rs1555395260
NM_000138.5(FBN1):c.6285del (p.Cys2096fs) rs2141241437
NM_000138.5(FBN1):c.6285dup (p.Cys2096fs)
NM_000138.5(FBN1):c.6296G>A (p.Cys2099Tyr) rs1131691803
NM_000138.5(FBN1):c.6297C>G (p.Cys2099Trp)
NM_000138.5(FBN1):c.6309dup (p.Asp2104Ter) rs2141241409
NM_000138.5(FBN1):c.6313+1G>A rs2141241397
NM_000138.5(FBN1):c.6313+3A>G rs1555395256
NM_000138.5(FBN1):c.6313+5G>A rs878853688
NM_000138.5(FBN1):c.6313G>T (p.Glu2105Ter) rs794728247
NM_000138.5(FBN1):c.6314-2A>C rs2141240964
NM_000138.5(FBN1):c.6320dup (p.Arg2108fs) rs2043081795
NM_000138.5(FBN1):c.6322del (p.Arg2108fs) rs2141240943
NM_000138.5(FBN1):c.6325C>T (p.Gln2109Ter) rs1555395229
NM_000138.5(FBN1):c.6327del (p.Ile2110fs) rs1555395228
NM_000138.5(FBN1):c.6331T>G (p.Cys2111Gly) rs363815
NM_000138.5(FBN1):c.6338dup (p.Tyr2113Ter) rs2141240902
NM_000138.5(FBN1):c.6339T>G (p.Tyr2113Ter) rs267606797
NM_000138.5(FBN1):c.6354C>G (p.Ile2118Met) rs112989722
NM_000138.5(FBN1):c.635_636del (p.Thr212fs) rs1566922422
NM_000138.5(FBN1):c.6371C>G (p.Ser2124Ter) rs1190410675
NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys) rs794728334
NM_000138.5(FBN1):c.6391T>A (p.Cys2131Ser) rs1555395210
NM_000138.5(FBN1):c.6392del (p.Cys2131fs) rs2141240489
NM_000138.5(FBN1):c.6393C>G (p.Cys2131Trp) rs61730051
NM_000138.5(FBN1):c.640G>A (p.Gly214Ser) rs794728162
NM_000138.5(FBN1):c.6410G>A (p.Cys2137Tyr) rs1555395206
NM_000138.5(FBN1):c.6412_6441del (p.Lys2138_Gly2147del) rs1566896070
NM_000138.5(FBN1):c.6416del (p.His2139fs)
NM_000138.5(FBN1):c.6418G>A (p.Gly2140Arg) rs794728249
NM_000138.5(FBN1):c.6423del (p.Gln2141fs) rs2141240428
NM_000138.5(FBN1):c.6424T>C (p.Cys2142Arg) rs1555395203
NM_000138.5(FBN1):c.6424T>G (p.Cys2142Gly)
NM_000138.5(FBN1):c.6425G>A (p.Cys2142Tyr) rs794728335
NM_000138.5(FBN1):c.6431A>G (p.Asn2144Ser) rs137854461
NM_000138.5(FBN1):c.643C>T (p.Arg215Ter) rs111687884
NM_000138.5(FBN1):c.6440dup (p.Ser2148fs) rs2141240388
NM_000138.5(FBN1):c.6446A>G (p.Tyr2149Cys) rs113080385
NM_000138.5(FBN1):c.6449G>T (p.Arg2150Leu) rs794728250
NM_000138.5(FBN1):c.6451T>C (p.Cys2151Arg)
NM_000138.5(FBN1):c.6452G>A (p.Cys2151Tyr) rs112464743
NM_000138.5(FBN1):c.6453C>T (p.Cys2151=) rs794728251
NM_000138.5(FBN1):c.6471T>A (p.Tyr2157Ter) rs1060501034
NM_000138.5(FBN1):c.6487G>T (p.Glu2163Ter) rs1555395191
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+1G>T rs1555395188
NM_000138.5(FBN1):c.6496G>A (p.Asp2166Asn) rs794728252
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.651G>A (p.Trp217Ter)
NM_000138.5(FBN1):c.6528T>A (p.Cys2176Ter)
NM_000138.5(FBN1):c.653del (p.Gly218fs)
NM_000138.5(FBN1):c.653dup (p.His219fs)
NM_000138.5(FBN1):c.6541del (p.Cys2181fs) rs1060501059
NM_000138.5(FBN1):c.6550_6553del (p.Val2184fs) rs2141237105
NM_000138.5(FBN1):c.6554T>C (p.Ile2185Thr) rs910656654
NM_000138.5(FBN1):c.6564_6565insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCGATTGGAGGTTTT (p.Glu2189delinsPhePhePhePhePhePheXaaXaaXaaXaaValSerProPheTer)
NM_000138.5(FBN1):c.6576C>A (p.Cys2192Ter)
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.6609_6610del (p.Thr2203_Cys2204insTer) rs1555395002
NM_000138.5(FBN1):c.660_661del (p.Pro220_Cys221insTer) rs1555401679
NM_000138.5(FBN1):c.660dup (p.Cys221fs)
NM_000138.5(FBN1):c.6610T>C (p.Cys2204Arg) rs1555395001
NM_000138.5(FBN1):c.6616+1G>A rs1064793980
NM_000138.5(FBN1):c.6616+1G>C rs1064793980
NM_000138.5(FBN1):c.6616+2T>C rs2141236949
NM_000138.5(FBN1):c.6617-12_6630del
NM_000138.5(FBN1):c.6617-1G>T
NM_000138.5(FBN1):c.661del (p.Cys221fs) rs1597593695
NM_000138.5(FBN1):c.6623_6627del (p.Asn2208fs) rs1597522572
NM_000138.5(FBN1):c.6623dup (p.Asn2208fs)
NM_000138.5(FBN1):c.6629G>A (p.Cys2210Tyr) rs2141235242
NM_000138.5(FBN1):c.6629_6639dup (p.Pro2214fs)
NM_000138.5(FBN1):c.6634C>T (p.Gln2212Ter) rs1597522553
NM_000138.5(FBN1):c.663_664del (p.Cys221_Glu222delinsTer) rs2044025276
NM_000138.5(FBN1):c.6645del (p.Leu2216fs) rs1555394928
NM_000138.5(FBN1):c.6650G>A (p.Cys2217Tyr) rs794728254
NM_000138.5(FBN1):c.6650G>C (p.Cys2217Ser)
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.6661T>G (p.Cys2221Gly)
NM_000138.5(FBN1):c.6662G>A (p.Cys2221Tyr) rs137854460
NM_000138.5(FBN1):c.6663T>G (p.Cys2221Trp) rs2141235147
NM_000138.5(FBN1):c.6670_6671del (p.Thr2224fs) rs1597522485
NM_000138.5(FBN1):c.6673del (p.Tyr2225fs) rs2141235124
NM_000138.5(FBN1):c.6675T>G (p.Tyr2225Ter) rs1260533788
NM_000138.5(FBN1):c.6678del (p.Ser2227fs) rs2141235101
NM_000138.5(FBN1):c.6695G>A (p.Cys2232Tyr) rs1060501054
NM_000138.5(FBN1):c.6699del (p.Val2234fs) rs1597522415
NM_000138.5(FBN1):c.670del (p.Cys224fs)
NM_000138.5(FBN1):c.6718G>T (p.Glu2240Ter)
NM_000138.5(FBN1):c.6718_6719del (p.Glu2240fs) rs2043034865
NM_000138.5(FBN1):c.671G>A (p.Cys224Tyr) rs1566922396
NM_000138.5(FBN1):c.6728_6737del (p.Arg2243fs) rs2141234945
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+1G>A rs869025419
NM_000138.5(FBN1):c.6739+1G>T
NM_000138.5(FBN1):c.6739+2T>A rs730880107
NM_000138.5(FBN1):c.6740-1G>C
NM_000138.5(FBN1):c.6740-2A>G rs2141232714
NM_000138.5(FBN1):c.6740-2del rs1555394783
NM_000138.5(FBN1):c.6740A>G (p.Asp2247Gly) rs1060501032
NM_000138.5(FBN1):c.6751T>A (p.Cys2251Ser) rs112836174
NM_000138.5(FBN1):c.6751T>C (p.Cys2251Arg) rs112836174
NM_000138.5(FBN1):c.6752G>T (p.Cys2251Phe) rs794728256
NM_000138.5(FBN1):c.6753T>G (p.Cys2251Trp)
NM_000138.5(FBN1):c.6757G>T (p.Glu2253Ter) rs1245476075
NM_000138.5(FBN1):c.6769_6773del (p.Asp2257fs) rs2141232639
NM_000138.5(FBN1):c.6772T>C (p.Cys2258Arg) rs1057520617
NM_000138.5(FBN1):c.6773G>C (p.Cys2258Ser)
NM_000138.5(FBN1):c.6773_6774del (p.Cys2258fs) rs1555394777
NM_000138.5(FBN1):c.6780_6783del (p.Glu2260fs)
NM_000138.5(FBN1):c.6783_6784insT (p.Gln2262fs) rs2043017815
NM_000138.5(FBN1):c.6784C>T (p.Gln2262Ter) rs1060501023
NM_000138.5(FBN1):c.6790G>T (p.Glu2264Ter)
NM_000138.5(FBN1):c.6793T>A (p.Cys2265Ser) rs1057522272
NM_000138.5(FBN1):c.6793T>G (p.Cys2265Gly) rs1057522272
NM_000138.5(FBN1):c.6794G>A (p.Cys2265Tyr) rs1057520679
NM_000138.5(FBN1):c.679C>T (p.Gln227Ter) rs2044025100
NM_000138.5(FBN1):c.6800del (p.Asn2267fs) rs1566894288
NM_000138.5(FBN1):c.6801C>G (p.Asn2267Lys) rs886051245
NM_000138.5(FBN1):c.6837del (p.Tyr2280fs) rs2043017030
NM_000138.5(FBN1):c.6838dup (p.Tyr2280fs)
NM_000138.5(FBN1):c.6866G>A (p.Cys2289Tyr) rs1566894230
NM_000138.5(FBN1):c.6869del (p.Val2290fs) rs2141232407
NM_000138.5(FBN1):c.6871+1G>A rs1555394753
NM_000138.5(FBN1):c.6871+1G>T rs1555394753
NM_000138.5(FBN1):c.6872-14A>G rs1064793119
NM_000138.5(FBN1):c.6872-1G>T rs1597518951
NM_000138.5(FBN1):c.6872-3C>G rs2042999551
NM_000138.5(FBN1):c.6883T>C (p.Cys2295Arg) rs1555394644
NM_000138.5(FBN1):c.6884G>A (p.Cys2295Tyr) rs886038949
NM_000138.5(FBN1):c.6896del (p.Pro2299fs) rs2141230021
NM_000138.5(FBN1):c.6905G>A (p.Cys2302Tyr) rs2042998789
NM_000138.5(FBN1):c.6906_6907del (p.Cys2302_Glu2303delinsTer) rs2141229990
NM_000138.5(FBN1):c.6919T>C (p.Cys2307Arg)
NM_000138.5(FBN1):c.691del (p.Cys231fs)
NM_000138.5(FBN1):c.6931del (p.Arg2311fs) rs2141229950
NM_000138.5(FBN1):c.6940_6943dup (p.Thr2315fs) rs1566893738
NM_000138.5(FBN1):c.6947G>T (p.Cys2316Phe) rs1555394629
NM_000138.5(FBN1):c.6948T>A (p.Cys2316Ter) rs1060501016
NM_000138.5(FBN1):c.6952T>C (p.Cys2318Arg) rs111588631
NM_000138.5(FBN1):c.6954dup (p.Asn2319Ter) rs1597518796
NM_000138.5(FBN1):c.6966del (p.Phe2322fs) rs1555394623
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+1G>A rs2042997306
NM_000138.5(FBN1):c.6997+1G>C rs2042997306
NM_000138.5(FBN1):c.6998-1G>A
NM_000138.5(FBN1):c.6998-2A>T rs1555394585
NM_000138.5(FBN1):c.7003C>T (p.Arg2335Trp) rs794728262
NM_000138.5(FBN1):c.7016_7020dup (p.Thr2341fs) rs2141229138
NM_000138.5(FBN1):c.701G>A (p.Gly234Asp) rs1555401670
NM_000138.5(FBN1):c.7032_7054del (p.Asn2346fs) rs1597518038
NM_000138.5(FBN1):c.7037del (p.Asn2346fs)
NM_000138.5(FBN1):c.7039_7040del (p.Met2347fs) rs794728319
NM_000138.5(FBN1):c.7043_7044del (p.Cys2348fs) rs2141229101
NM_000138.5(FBN1):c.7054del (p.Ser2352fs)
NM_000138.5(FBN1):c.7080dup (p.Ser2361fs) rs1597517970
NM_000138.5(FBN1):c.7082C>A (p.Ser2361Ter) rs397515844
NM_000138.5(FBN1):c.7091G>C (p.Cys2364Ser)
NM_000138.5(FBN1):c.7092C>A (p.Cys2364Ter) rs1555394569
NM_000138.5(FBN1):c.710del (p.Pro237fs)
NM_000138.5(FBN1):c.7111T>C (p.Trp2371Arg) rs794728264
NM_000138.5(FBN1):c.7112G>A (p.Trp2371Ter) rs1555394567
NM_000138.5(FBN1):c.7113G>A (p.Trp2371Ter) rs886039063
NM_000138.5(FBN1):c.7115G>T (p.Gly2372Val) rs112369155
NM_000138.5(FBN1):c.7119_7120insGGAC (p.His2374fs) rs1597517858
NM_000138.5(FBN1):c.7125T>A (p.Cys2375Ter) rs794728265
NM_000138.5(FBN1):c.7139dup (p.Gln2381fs) rs1555394561
NM_000138.5(FBN1):c.7141C>T (p.Gln2381Ter) rs869025414
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.7169G>A (p.Cys2390Tyr) rs864622754
NM_000138.5(FBN1):c.7178dup (p.Arg2394fs) rs1597517771
NM_000138.5(FBN1):c.7180C>T (p.Arg2394Ter) rs397515848
NM_000138.5(FBN1):c.718C>T (p.Arg240Cys) rs137854480
NM_000138.5(FBN1):c.7204+1G>A rs1555394557
NM_000138.5(FBN1):c.7204+1G>T rs1555394557
NM_000138.5(FBN1):c.7204+3A>G rs1057518076
NM_000138.5(FBN1):c.7204+3A>T
NM_000138.5(FBN1):c.7205-1G>A rs794728266
NM_000138.5(FBN1):c.7205-1G>C rs794728266
NM_000138.5(FBN1):c.7205-2A>G rs1555394450
NM_000138.5(FBN1):c.7217G>A (p.Cys2406Tyr) rs1131691479
NM_000138.5(FBN1):c.7221_7225del (p.Lys2407fs) rs1597516509
NM_000138.5(FBN1):c.7228_7232dup (p.Val2412fs) rs1555394445
NM_000138.5(FBN1):c.7238G>A (p.Cys2413Tyr) rs1566892915
NM_000138.5(FBN1):c.7240C>T (p.Arg2414Ter) rs112550005
NM_000138.5(FBN1):c.7244_7251del (p.Asn2415fs)
NM_000138.5(FBN1):c.7245del (p.Asn2415fs) rs2141227006
NM_000138.5(FBN1):c.7249G>T (p.Glu2417Ter) rs2042974889
NM_000138.5(FBN1):c.7251dup (p.Cys2418fs) rs1566892906
NM_000138.5(FBN1):c.7271C>A (p.Ser2424Ter)
NM_000138.5(FBN1):c.7276_7283del (p.His2426fs)
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.7314del (p.Thr2440fs) rs2141226866
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.732T>A (p.Cys244Ter) rs878853689
NM_000138.5(FBN1):c.7330+1G>T
NM_000138.5(FBN1):c.7331-1G>A
NM_000138.5(FBN1):c.7331-1_7343dup rs2042971987
NM_000138.5(FBN1):c.7331-2A>G
NM_000138.5(FBN1):c.7331A>G (p.Asp2444Gly) rs1060501093
NM_000138.5(FBN1):c.7342T>C (p.Cys2448Arg) rs1566892757
NM_000138.5(FBN1):c.7364G>A (p.Cys2455Tyr) rs1555394409
NM_000138.5(FBN1):c.7371dup (p.Ile2458fs) rs1555394407
NM_000138.5(FBN1):c.7382dup (p.Asn2461fs) rs2141226412
NM_000138.5(FBN1):c.7387G>T (p.Glu2463Ter) rs1566892735
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.7403G>A (p.Cys2468Tyr) rs1555394400
NM_000138.5(FBN1):c.7406C>A (p.Ser2469Ter)
NM_000138.5(FBN1):c.7408T>A (p.Cys2470Ser) rs1555394399
NM_000138.5(FBN1):c.7409G>A (p.Cys2470Tyr) rs1555394398
NM_000138.5(FBN1):c.7409G>T (p.Cys2470Phe) rs1555394398
NM_000138.5(FBN1):c.7409_7410delinsAT (p.Cys2470Tyr) rs2141226319
NM_000138.5(FBN1):c.7410C>G (p.Cys2470Trp) rs1555394397
NM_000138.5(FBN1):c.7421del (p.Tyr2474fs) rs1060501060
NM_000138.5(FBN1):c.7448G>A (p.Cys2483Tyr) rs1555394390
NM_000138.5(FBN1):c.7453+1del rs2042970813
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.7466G>A (p.Cys2489Tyr) rs1060501077
NM_000138.5(FBN1):c.7473_7480del (p.Lys2492fs) rs2042947612
NM_000138.5(FBN1):c.7477C>T (p.Gln2493Ter) rs2042947671
NM_000138.5(FBN1):c.7478_7488del (p.Gln2493fs)
NM_000138.5(FBN1):c.748_749insCC (p.Cys250fs) rs2043996054
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.7526G>A (p.Cys2509Tyr)
NM_000138.5(FBN1):c.7531T>C (p.Cys2511Arg) rs794728272
NM_000138.5(FBN1):c.7532G>A (p.Cys2511Tyr) rs1555394238
NM_000138.5(FBN1):c.7533T>G (p.Cys2511Trp) rs750331217
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg) rs363811
NM_000138.5(FBN1):c.7549C>T (p.Gln2517Ter) rs1566891808
NM_000138.5(FBN1):c.754dup (p.Ala252fs) rs2043995981
NM_000138.5(FBN1):c.7558_7568del (p.His2519_Thr2520insTer) rs2141222379
NM_000138.5(FBN1):c.755_762del (p.Ala252fs) rs2043995821
NM_000138.5(FBN1):c.7563_7570delinsGTTGGA (p.Cys2522fs) rs2042946001
NM_000138.5(FBN1):c.7579G>C (p.Glu2527Gln) rs2141222003
NM_000138.5(FBN1):c.7582T>G (p.Cys2528Gly)
NM_000138.5(FBN1):c.7583G>C (p.Cys2528Ser) rs2141221984
NM_000138.5(FBN1):c.7584C>A (p.Cys2528Ter) rs1303268147
NM_000138.5(FBN1):c.7604G>A (p.Cys2535Tyr) rs1555394210
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.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.7624C>T (p.Gln2542Ter) rs794728276
NM_000138.5(FBN1):c.762del (p.Leu256fs) rs1064793559
NM_000138.5(FBN1):c.7630del (p.Thr2544fs)
NM_000138.5(FBN1):c.7636G>A (p.Gly2546Arg) rs2042942573
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.7655_7656del (p.Cys2552fs) rs1597513323
NM_000138.5(FBN1):c.7655_7656delinsAA (p.Cys2552Ter) rs1597513319
NM_000138.5(FBN1):c.7663G>A (p.Gly2555Arg) rs1566891655
NM_000138.5(FBN1):c.7664G>T (p.Gly2555Val) rs1566891654
NM_000138.5(FBN1):c.7666T>G (p.Phe2556Val) rs193922234
NM_000138.5(FBN1):c.7676_7677del (p.Asp2559fs) rs2141221768
NM_000138.5(FBN1):c.7678C>T (p.Gln2560Ter)
NM_000138.5(FBN1):c.7693T>C (p.Cys2565Arg)
NM_000138.5(FBN1):c.7696G>T (p.Glu2566Ter) rs2141221739
NM_000138.5(FBN1):c.7699+1G>A rs1555394189
NM_000138.5(FBN1):c.769dup (p.Cys257fs)
NM_000138.5(FBN1):c.7700_7706del (p.Asp2567fs) rs2141220862
NM_000138.5(FBN1):c.7706del (p.Asp2569fs)
NM_000138.5(FBN1):c.7708G>A (p.Glu2570Lys) rs886038786
NM_000138.5(FBN1):c.7711T>C (p.Cys2571Arg) rs2042934926
NM_000138.5(FBN1):c.7714G>T (p.Glu2572Ter)
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.7742G>C (p.Cys2581Ser) rs1555394149
NM_000138.5(FBN1):c.7760del (p.Gly2587fs) rs1597512677
NM_000138.5(FBN1):c.7769G>A (p.Cys2590Tyr) rs869025416
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.777_801del (p.Gly260fs) rs2043994986
NM_000138.5(FBN1):c.7784G>A (p.Gly2595Asp) rs397515857
NM_000138.5(FBN1):c.7786_7792del (p.Tyr2596fs) rs2141220647
NM_000138.5(FBN1):c.7788C>A (p.Tyr2596Ter) rs1555394142
NM_000138.5(FBN1):c.7801C>T (p.Gln2601Ter) rs1597512600
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.7819+1G>A rs112907302
NM_000138.5(FBN1):c.7822G>T (p.Glu2608Ter) rs1566890005
NM_000138.5(FBN1):c.7828G>A (p.Glu2610Lys) rs111984349
NM_000138.5(FBN1):c.7832G>A (p.Cys2611Tyr) rs794728337
NM_000138.5(FBN1):c.7840del (p.Ala2614fs)
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.7864T>C (p.Cys2622Arg) rs1555393882
NM_000138.5(FBN1):c.7865G>C (p.Cys2622Ser) rs1555393880
NM_000138.5(FBN1):c.7865G>T (p.Cys2622Phe)
NM_000138.5(FBN1):c.7871A>G (p.Asn2624Ser) rs113935744
NM_000138.5(FBN1):c.7881dup (p.Ser2628fs) rs1060501067
NM_000138.5(FBN1):c.7892G>A (p.Cys2631Tyr) rs111856492
NM_000138.5(FBN1):c.7907del (p.Gly2636fs) rs2141214897
NM_000138.5(FBN1):c.7912C>T (p.Gln2638Ter) rs2141214889
NM_000138.5(FBN1):c.7921C>T (p.Gln2641Ter) rs1555393866
NM_000138.5(FBN1):c.7936T>A (p.Cys2646Ser) rs1555393863
NM_000138.5(FBN1):c.7937G>A (p.Cys2646Tyr) rs1597509701
NM_000138.5(FBN1):c.7954T>A (p.Cys2652Ser) rs1555393858
NM_000138.5(FBN1):c.7954T>C (p.Cys2652Arg) rs1555393858
NM_000138.5(FBN1):c.7959del (p.Ser2654fs) rs1597509674
NM_000138.5(FBN1):c.795del (p.Val266fs) rs2141353727
NM_000138.5(FBN1):c.7966C>T (p.Gln2656Ter) rs2141214772
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.7977C>A (p.Cys2659Ter) rs1555393844
NM_000138.5(FBN1):c.7982A>G (p.Tyr2661Cys) rs112196241
NM_000138.5(FBN1):c.7983T>A (p.Tyr2661Ter) rs2141214712
NM_000138.5(FBN1):c.7987T>C (p.Cys2663Arg) rs1566889870
NM_000138.5(FBN1):c.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.7999G>T (p.Glu2667Ter) rs149062442
NM_000138.5(FBN1):c.799_805del (p.Gly267fs) rs1060501100
NM_000138.5(FBN1):c.7C>T (p.Arg3Ter) rs886038797
NM_000138.5(FBN1):c.8005G>T (p.Gly2669Cys) rs794728281
NM_000138.5(FBN1):c.8006G>T (p.Gly2669Val) rs886038869
NM_000138.5(FBN1):c.8008_8009insCACCCTCGGTAACCTGTGTGGTAATA (p.Tyr2670fs) rs2141214637
NM_000138.5(FBN1):c.8011_8012del (p.Leu2671fs) rs2141214616
NM_000138.5(FBN1):c.8014T>C (p.Cys2672Arg) rs1555393833
NM_000138.5(FBN1):c.8016_8017insAG (p.Gly2673fs) rs2141214595
NM_000138.5(FBN1):c.801del (p.Ser268fs) rs1060501050
NM_000138.5(FBN1):c.8029_8030insACAGTAACCACCTG (p.Gly2677fs)
NM_000138.5(FBN1):c.8032dup (p.Tyr2678fs) rs2042895751
NM_000138.5(FBN1):c.8038C>T (p.Arg2680Cys) rs794728283
NM_000138.5(FBN1):c.8040dup (p.Ile2681fs)
NM_000138.5(FBN1):c.8047C>T (p.Gln2683Ter) rs2141214520
NM_000138.5(FBN1):c.8051+375G>T rs1060501062
NM_000138.5(FBN1):c.8052-1G>A
NM_000138.5(FBN1):c.8056T>C (p.Cys2686Arg) rs1566889188
NM_000138.5(FBN1):c.8057G>T (p.Cys2686Phe) rs2141211820
NM_000138.5(FBN1):c.8058T>A (p.Cys2686Ter)
NM_000138.5(FBN1):c.8059_8060del (p.Val2687fs) rs2042873946
NM_000138.5(FBN1):c.8080C>T (p.Arg2694Ter) rs200309328
NM_000138.5(FBN1):c.8080del (p.Arg2694fs)
NM_000138.5(FBN1):c.8092G>T (p.Glu2698Ter) rs1597507783
NM_000138.5(FBN1):c.8101_8102del (p.Val2701fs) rs1597507763
NM_000138.5(FBN1):c.8103_8104insT (p.Ser2702Ter) rs2141211736
NM_000138.5(FBN1):c.8108del (p.Gly2703fs)
NM_000138.5(FBN1):c.8118del (p.Asp2706fs) rs2141211729
NM_000138.5(FBN1):c.8140del (p.Ala2714fs)
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.8173A>T (p.Lys2725Ter) rs1555393652
NM_000138.5(FBN1):c.819C>A (p.Cys273Ter)
NM_000138.5(FBN1):c.8219_8225dup (p.Asp2743fs)
NM_000138.5(FBN1):c.821C>A (p.Pro274His) rs1085307537
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.8235dup (p.Glu2746Ter) rs2141210158
NM_000138.5(FBN1):c.8240_8241del (p.Thr2747fs)
NM_000138.5(FBN1):c.8242G>T (p.Glu2748Ter)
NM_000138.5(FBN1):c.8259del (p.Ala2754fs) rs1597506905
NM_000138.5(FBN1):c.8260del (p.Ala2754fs)
NM_000138.5(FBN1):c.8268G>A (p.Trp2756Ter) rs267606796
NM_000138.5(FBN1):c.8282del (p.Thr2761fs)
NM_000138.5(FBN1):c.8297del (p.Phe2766fs)
NM_000138.5(FBN1):c.8312_8327dup (p.Arg2776_Ile2777insGlnTer) rs2141210000
NM_000138.5(FBN1):c.831del (p.His277fs) rs2043994405
NM_000138.5(FBN1):c.8323del (p.Val2775fs) rs2141210009
NM_000138.5(FBN1):c.8330T>A (p.Ile2777Asn) rs1555393556
NM_000138.5(FBN1):c.8338dup (p.Leu2780fs) rs2042860621
NM_000138.5(FBN1):c.8348C>A (p.Ala2783Asp) rs2141209965
NM_000138.5(FBN1):c.8378A>G (p.Tyr2793Cys) rs397515863
NM_000138.5(FBN1):c.8398dup (p.Glu2800fs) rs2141209879
NM_000138.5(FBN1):c.841_842insT (p.Glu281fs) rs886039034
NM_000138.5(FBN1):c.8442C>A (p.Tyr2814Ter)
NM_000138.5(FBN1):c.8456dup (p.Lys2820fs) rs2141209783
NM_000138.5(FBN1):c.8477_8478insATAG (p.Thr2826_Tyr2827insTer) rs2042858025
NM_000138.5(FBN1):c.8478del (p.Tyr2827fs)
NM_000138.5(FBN1):c.8483C>A (p.Ser2828Ter)
NM_000138.5(FBN1):c.8488C>T (p.Gln2830Ter) rs886038795
NM_000138.5(FBN1):c.8491del (p.Ile2831fs)
NM_000138.5(FBN1):c.8499del (p.Ser2833fs) rs2141209667
NM_000138.5(FBN1):c.8512_8526A[5]GAAAGAACTTGGAGGAGGAGCCAAGATGGCCGAATAGGAACAGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAACTT[1] (p.Asn2843delinsGlyGlyGlyAlaLysMetAlaGluTer)
NM_000138.5(FBN1):c.8516dup (p.Lys2840fs) rs1555393514
NM_000138.5(FBN1):c.8525_8529del (p.Leu2842fs) rs1064794130
NM_000138.5(FBN1):c.8543_8544del (p.Lys2848fs) rs794728323
NM_000138.5(FBN1):c.8544del (p.Lys2848fs) rs794728323
NM_000138.5(FBN1):c.8546_8547del (p.Lys2848_Tyr2849insTer)
NM_000138.5(FBN1):c.855del (p.Lys285fs) rs2141353573
NM_000138.5(FBN1):c.8576del (p.Gly2859fs) rs2141209492
NM_000138.5(FBN1):c.8591T>A (p.Met2864Lys) rs1060501028
NM_000138.5(FBN1):c.897_898del (p.Cys299_Glu300delinsTer) rs2141343447
NM_000138.5(FBN1):c.905del (p.Gly302fs) rs2043913021
NM_000138.5(FBN1):c.916_919del (p.Asn306fs) rs1597587532
NM_000138.5(FBN1):c.917del (p.Asn306fs) rs1064793637
NM_000138.5(FBN1):c.920_921del (p.Thr307fs)
NM_000138.5(FBN1):c.925del (p.Ser309fs) rs2141343395
NM_000138.5(FBN1):c.933C>G (p.Tyr311Ter) rs2141343382
NM_000138.5(FBN1):c.945del (p.Pro317fs) rs2141343351
NM_000138.5(FBN1):c.953del (p.Gly318fs)
NM_000138.5(FBN1):c.978del (p.Arg327fs) rs1060501094

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