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
|
NC_000015.10:g.(?_48410970)_(48412763_?)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.(?_48492451)_(48492596_?)del
|
|
|
NC_000015.10:g.(?_48503777)_(48516372_?)del
|
|
|
NC_000015.10:g.(?_48503777)_(48613102_?)del
|
|
|
NC_000015.10:g.(?_48508562)_(48516382_?)del
|
|
|
NC_000015.10:g.(?_48508572)_(48510179_?)del
|
|
|
NC_000015.10:g.(?_48596273)_(48613102_?)del
|
|
|
NC_000015.10:g.(?_48610708)_(48613112_?)del
|
|
|
NC_000015.10:g.(?_48613000)_(48644779_?)del
|
|
|
NC_000015.10:g.(?_48644596)_(48644779_?)del
|
|
|
NC_000015.10:g.48434694_48434695delinsC
|
rs397515834
|
|
NC_000015.9:g.(?_48670502)_(48703332_?)del
|
|
|
NC_000015.9:g.(?_48692137)_(48826328_?)del
|
|
|
NC_000015.9:g.(?_48695060)_(48703482_?)del
|
|
|
NC_000015.9:g.(?_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)_(48762973_?)del
|
|
|
NC_000015.9:g.(?_48703187)_(48936966_?)del
|
|
|
NC_000015.9:g.(?_48707358)_(48714275_?)del
|
|
|
NC_000015.9:g.(?_48713735)_(48796156_?)del
|
|
|
NC_000015.9:g.(?_48717965)_(48720525_?)del
|
|
|
NC_000015.9:g.(?_48719801)_(48723343_?)del
|
|
|
NC_000015.9:g.(?_48720523)_(48725205_?)del
|
|
|
NC_000015.9:g.(?_48722848)_(48723019_?)del
|
|
|
NC_000015.9:g.(?_48722912)_(48727571_?)del
|
|
|
NC_000015.9:g.(?_48725043)_(48725205_?)del
|
|
|
NC_000015.9:g.(?_48725043)_(48726930_?)del
|
|
|
NC_000015.9:g.(?_48726874)_(48728050_?)del
|
|
|
NC_000015.9:g.(?_48729138)_(48734063_?)del
|
|
|
NC_000015.9:g.(?_48729138)_(48748979_?)del
|
|
|
NC_000015.9:g.(?_48733898)_(48734063_?)del
|
|
|
NC_000015.9:g.(?_48736718)_(48736877_?)del
|
|
|
NC_000015.9:g.(?_48738883)_(48741110_?)del
|
|
|
NC_000015.9:g.(?_48740945)_(48752534_?)del
|
|
|
NC_000015.9:g.(?_48744739)_(48760751_?)del
|
|
|
NC_000015.9:g.(?_48748814)_(48748979_?)del
|
|
|
NC_000015.9:g.(?_48750861)_(48752488_?)del
|
|
|
NC_000015.9:g.(?_48766432)_(48766867_?)del
|
|
|
NC_000015.9:g.(?_48766715)_(48766857_?)del
|
|
|
NC_000015.9:g.(?_48773832)_(48888595_?)del
|
|
|
NC_000015.9:g.(?_48773832)_(48936966_?)del
|
|
|
NC_000015.9:g.(?_48780450)_(48783088_?)del
|
|
|
NC_000015.9:g.(?_48781877)_(48782069_?)del
|
|
|
NC_000015.9:g.(?_48782167)_(48927084_?)del
|
|
|
NC_000015.9:g.(?_48784638)_(48818472_?)del
|
|
|
NC_000015.9:g.(?_48788277)_(48936966_?)del
|
|
|
NC_000015.9:g.(?_48791030)_(48829850_?)del
|
|
|
NC_000015.9:g.(?_48791031)_48829849del
|
|
|
NC_000015.9:g.(?_48791162)_(48791255_?)del
|
|
|
NC_000015.9:g.(?_48791162)_(48830025_?)del
|
|
|
NC_000015.9:g.(?_48791162)_(48936966_?)del
|
|
|
NC_000015.9:g.(?_48793703)_(48796070_?)del
|
|
|
NC_000015.9:g.(?_48795974)_(48830015_?)del
|
|
|
NC_000015.9:g.(?_48800759)_(48800921_?)del
|
|
|
NC_000015.9:g.(?_48802221)_(48936966_?)del
|
|
|
NC_000015.9:g.(?_48805726)_(48808579_?)del
|
|
|
NC_000015.9:g.(?_48805726)_(48813034_?)del
|
|
|
NC_000015.9:g.(?_48805736)_(48936976_?)del
|
|
|
NC_000015.9:g.(?_48807564)_(48808579_?)del
|
|
|
NC_000015.9:g.(?_48812846)_(48905299_?)dup
|
|
|
NC_000015.9:g.(?_48826267)_(48936976_?)del
|
|
|
NC_000015.9:g.(?_48888460)_(48888595_?)del
|
|
|
NC_000015.9:g.(?_48888460)_(48905309_?)del
|
|
|
NC_000015.9:g.(?_48888460)_(48936966_?)del
|
|
|
NC_000015.9:g.(?_48902905)_(48936966_?)del
|
|
|
NC_000015.9:g.(?_48902915)_(48905299_?)del
|
|
|
NC_000015.9:g.(?_48936783)_(48936966_?)del
|
|
|
NM_000138.4(FBN1):c.2471_2474delinsAATAAA (p.Ser824_Pro825delinsLysTer)
|
rs1566911724
|
|
NM_000138.4(FBN1):c.2682_2692delinsTTTACC (p.Ile895fs)
|
rs1555399095
|
|
NM_000138.4(FBN1):c.4821delinsCA (p.Asp1608fs)
|
rs1555397007
|
|
NM_000138.4(FBN1):c.5362_5364delinsGACT (p.Ser1788fs)
|
rs1566901605
|
|
NM_000138.4(FBN1):c.5593_5594dup (p.Ile1866fs)
|
rs886043709
|
|
NM_000138.5(FBN1):c.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.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.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.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.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
|
|