NM_000138.5(FBN1):c.1875T>C (p.Asn625=)
|
rs25458
|
0.25074
|
NM_000138.5(FBN1):c.3464-5G>A
|
rs11853943
|
0.16287
|
NM_000138.5(FBN1):c.156G>T (p.Ala52=)
|
rs25398
|
0.06859
|
NM_000138.5(FBN1):c.6855T>C (p.Asp2285=)
|
rs363836
|
0.02755
|
NM_000138.5(FBN1):c.6888G>A (p.Gln2296=)
|
rs363830
|
0.02418
|
NM_000138.5(FBN1):c.3442C>G (p.Pro1148Ala)
|
rs140598
|
0.01315
|
NM_000138.5(FBN1):c.3294C>T (p.Asp1098=)
|
rs140587
|
0.01051
|
NM_000138.5(FBN1):c.986T>C (p.Ile329Thr)
|
rs12324002
|
0.00737
|
NM_000138.5(FBN1):c.5343G>A (p.Val1781=)
|
rs140649
|
0.00561
|
NM_000138.5(FBN1):c.6393C>T (p.Cys2131=)
|
rs61730051
|
0.00522
|
NM_000138.5(FBN1):c.6594C>T (p.Pro2198=)
|
rs111844882
|
0.00439
|
NM_000138.5(FBN1):c.1746C>T (p.Cys582=)
|
rs112366266
|
0.00436
|
NM_000138.5(FBN1):c.3675G>A (p.Pro1225=)
|
rs148147223
|
0.00436
|
NM_000138.5(FBN1):c.4905C>G (p.Thr1635=)
|
rs113115949
|
0.00435
|
NM_000138.5(FBN1):c.306C>T (p.Cys102=)
|
rs25388
|
0.00372
|
NM_000138.5(FBN1):c.3082+8del
|
rs193922196
|
0.00359
|
NM_000138.5(FBN1):c.8283A>T (p.Thr2761=)
|
rs146120912
|
0.00314
|
NM_000138.5(FBN1):c.2055C>T (p.Cys685=)
|
rs140603
|
0.00304
|
NM_000138.5(FBN1):c.7497A>G (p.Leu2499=)
|
rs148516442
|
0.00268
|
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His)
|
rs137854475
|
0.00168
|
NM_000138.5(FBN1):c.3069G>A (p.Lys1023=)
|
rs199789628
|
0.00148
|
NM_000138.5(FBN1):c.8502T>C (p.Thr2834=)
|
rs363847
|
0.00148
|
NM_000138.5(FBN1):c.3463+3A>G
|
rs80344206
|
0.00128
|
NM_000138.5(FBN1):c.6073G>T (p.Ala2025Ser)
|
rs113577372
|
0.00115
|
NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly)
|
rs61730054
|
0.00113
|
NM_000138.5(FBN1):c.7950T>C (p.Asn2650=)
|
rs143055643
|
0.00113
|
NM_000138.5(FBN1):c.6681A>C (p.Ser2227=)
|
rs363824
|
0.00109
|
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr)
|
rs112287730
|
0.00107
|
NM_000138.5(FBN1):c.6837G>A (p.Gly2279=)
|
rs140584234
|
0.00094
|
NM_000138.5(FBN1):c.783T>C (p.Asn261=)
|
rs113721547
|
0.00091
|
NM_000138.5(FBN1):c.6987C>G (p.Asp2329Glu)
|
rs363831
|
0.00089
|
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met)
|
rs112084407
|
0.00078
|
NM_000138.5(FBN1):c.510C>T (p.Tyr170=)
|
rs111671429
|
0.00076
|
NM_000138.5(FBN1):c.2934C>G (p.Asp978Glu)
|
rs138438849
|
0.00070
|
NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp)
|
rs61746008
|
0.00070
|
NM_000138.5(FBN1):c.3422C>T (p.Pro1141Leu)
|
rs2228241
|
0.00054
|
NM_000138.5(FBN1):c.8385C>T (p.Ile2795=)
|
rs138574576
|
0.00054
|
NM_000138.5(FBN1):c.4683C>T (p.Ser1561=)
|
rs148024160
|
0.00053
|
NM_000138.5(FBN1):c.7346A>G (p.Asn2449Ser)
|
rs146166400
|
0.00049
|
NM_000138.5(FBN1):c.7098C>T (p.Asp2366=)
|
rs1005074
|
0.00044
|
NM_000138.5(FBN1):c.3890A>G (p.Glu1297Gly)
|
rs200342067
|
0.00043
|
NM_000138.5(FBN1):c.2148A>G (p.Gly716=)
|
rs141039922
|
0.00042
|
NM_000138.5(FBN1):c.2895G>A (p.Glu965=)
|
rs140591
|
0.00038
|
NM_000138.5(FBN1):c.1265G>A (p.Gly422Glu)
|
rs139968089
|
0.00035
|
NM_000138.5(FBN1):c.5964C>T (p.Thr1988=)
|
rs113022801
|
0.00034
|
NM_000138.5(FBN1):c.8363C>T (p.Thr2788Met)
|
rs143007898
|
0.00031
|
NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile)
|
rs183306990
|
0.00030
|
NM_000138.5(FBN1):c.2175T>C (p.Asn725=)
|
rs140606
|
0.00029
|
NM_000138.5(FBN1):c.3058A>G (p.Thr1020Ala)
|
rs111801777
|
0.00029
|
NM_000138.5(FBN1):c.4750G>A (p.Glu1584Lys)
|
rs148888513
|
0.00029
|
NM_000138.5(FBN1):c.2187A>C (p.Leu729=)
|
rs61730055
|
0.00026
|
NM_000138.5(FBN1):c.4443C>T (p.Ser1481=)
|
rs145040593
|
0.00026
|
NM_000138.5(FBN1):c.5423-4G>A
|
rs377036485
|
0.00026
|
NM_000138.5(FBN1):c.7338C>T (p.Asn2446=)
|
rs140178192
|
0.00025
|
NM_000138.5(FBN1):c.8445C>T (p.Leu2815=)
|
rs142304692
|
0.00024
|
NM_000138.5(FBN1):c.6705A>C (p.Gly2235=)
|
rs2229326
|
0.00019
|
NM_000138.5(FBN1):c.7852G>A (p.Gly2618Arg)
|
rs141133182
|
0.00019
|
NM_000138.5(FBN1):c.228C>T (p.Gly76=)
|
rs141651917
|
0.00018
|
NM_000138.5(FBN1):c.4727T>C (p.Met1576Thr)
|
rs776625874
|
0.00018
|
NM_000138.5(FBN1):c.902G>T (p.Gly301Val)
|
rs142888621
|
0.00018
|
NM_000138.5(FBN1):c.6342A>C (p.Gly2114=)
|
rs374705586
|
0.00017
|
NM_000138.5(FBN1):c.6380-3A>G
|
rs567703513
|
0.00016
|
NM_000138.5(FBN1):c.8027C>T (p.Pro2676Leu)
|
rs146469379
|
0.00016
|
NM_000138.5(FBN1):c.1371C>G (p.Arg457=)
|
rs25436
|
0.00015
|
NM_000138.5(FBN1):c.3423G>A (p.Pro1141=)
|
rs140396599
|
0.00015
|
NM_000138.5(FBN1):c.7056C>T (p.Ser2352=)
|
rs149697299
|
0.00015
|
NM_000138.5(FBN1):c.3936C>T (p.Ser1312=)
|
rs779913610
|
0.00014
|
NM_000138.5(FBN1):c.5917+3A>G
|
rs202158568
|
0.00014
|
NM_000138.5(FBN1):c.6288C>T (p.Cys2096=)
|
rs144822241
|
0.00014
|
NM_000138.5(FBN1):c.6054C>T (p.Val2018=)
|
rs542953863
|
0.00013
|
NM_000138.5(FBN1):c.8232G>A (p.Gln2744=)
|
rs376119827
|
0.00013
|
NM_000138.5(FBN1):c.185G>A (p.Arg62His)
|
rs145942328
|
0.00012
|
NM_000138.5(FBN1):c.3798T>C (p.Tyr1266=)
|
rs112987543
|
0.00012
|
NM_000138.5(FBN1):c.6576C>T (p.Cys2192=)
|
rs369058466
|
0.00012
|
NM_000138.5(FBN1):c.1323A>G (p.Pro441=)
|
rs202030761
|
0.00011
|
NM_000138.5(FBN1):c.1821T>C (p.Asp607=)
|
rs149133920
|
0.00011
|
NM_000138.5(FBN1):c.2289C>T (p.Cys763=)
|
rs181311020
|
0.00011
|
NM_000138.5(FBN1):c.7560G>A (p.Thr2520=)
|
rs760425899
|
0.00011
|
NM_000138.5(FBN1):c.2094G>T (p.Pro698=)
|
rs144775475
|
0.00010
|
NM_000138.5(FBN1):c.2892C>T (p.Asp964=)
|
rs116945525
|
0.00010
|
NM_000138.5(FBN1):c.2232G>C (p.Gly744=)
|
rs762745991
|
0.00009
|
NM_000138.5(FBN1):c.396T>C (p.Asp132=)
|
rs147481356
|
0.00009
|
NM_000138.5(FBN1):c.7266A>G (p.Arg2422=)
|
rs532737688
|
0.00009
|
NM_000138.5(FBN1):c.7660C>T (p.Arg2554Trp)
|
rs369294972
|
0.00009
|
NM_000138.5(FBN1):c.7846A>G (p.Ile2616Val)
|
rs143677764
|
0.00009
|
NM_000138.5(FBN1):c.942A>G (p.Lys314=)
|
rs376965275
|
0.00009
|
NM_000138.5(FBN1):c.3171C>T (p.Ser1057=)
|
rs144400069
|
0.00008
|
NM_000138.5(FBN1):c.3429C>A (p.Gly1143=)
|
rs151232024
|
0.00008
|
NM_000138.5(FBN1):c.7379A>G (p.Lys2460Arg)
|
rs144189837
|
0.00008
|
NM_000138.5(FBN1):c.1363T>C (p.Leu455=)
|
rs557954342
|
0.00007
|
NM_000138.5(FBN1):c.2772C>T (p.Gly924=)
|
rs539699143
|
0.00007
|
NM_000138.5(FBN1):c.4582+3A>G
|
rs777845323
|
0.00007
|
NM_000138.5(FBN1):c.6372A>G (p.Ser2124=)
|
rs397515832
|
0.00007
|
NM_000138.5(FBN1):c.6942C>T (p.Tyr2314=)
|
rs372967546
|
0.00007
|
NM_000138.5(FBN1):c.124G>C (p.Ala42Pro)
|
rs377722423
|
0.00006
|
NM_000138.5(FBN1):c.1316G>A (p.Arg439Gln)
|
rs568810058
|
0.00006
|
NM_000138.5(FBN1):c.273T>C (p.Asp91=)
|
rs375450755
|
0.00006
|
NM_000138.5(FBN1):c.2793G>T (p.Gly931=)
|
rs775785545
|
0.00006
|
NM_000138.5(FBN1):c.2835C>T (p.Ala945=)
|
rs140389544
|
0.00006
|
NM_000138.5(FBN1):c.3197G>C (p.Arg1066Thr)
|
rs376659156
|
0.00006
|
NM_000138.5(FBN1):c.4150A>G (p.Met1384Val)
|
rs775543440
|
0.00006
|
NM_000138.5(FBN1):c.4875C>G (p.Thr1625=)
|
rs140628
|
0.00006
|
NM_000138.5(FBN1):c.4986A>G (p.Thr1662=)
|
rs753705796
|
0.00006
|
NM_000138.5(FBN1):c.4998C>G (p.Thr1666=)
|
rs141925790
|
0.00006
|
NM_000138.5(FBN1):c.5097C>T (p.Tyr1699=)
|
rs368979510
|
0.00006
|
NM_000138.5(FBN1):c.6164-3C>T
|
rs571365493
|
0.00006
|
NM_000138.5(FBN1):c.6302C>T (p.Thr2101Met)
|
rs200816828
|
0.00006
|
NM_000138.5(FBN1):c.6577G>A (p.Glu2193Lys)
|
rs201361628
|
0.00006
|
NM_000138.5(FBN1):c.6834C>T (p.Pro2278=)
|
rs397515839
|
0.00006
|
NM_000138.5(FBN1):c.7099G>A (p.Gly2367Arg)
|
rs368978109
|
0.00006
|
NM_000138.5(FBN1):c.7516G>A (p.Gly2506Ser)
|
rs756295016
|
0.00006
|
NM_000138.5(FBN1):c.7902C>T (p.Pro2634=)
|
rs138621371
|
0.00006
|
NM_000138.5(FBN1):c.7999G>A (p.Glu2667Lys)
|
rs149062442
|
0.00006
|
NM_000138.5(FBN1):c.8071G>A (p.Gly2691Ser)
|
rs145105768
|
0.00006
|
NM_000138.5(FBN1):c.8300A>G (p.Asn2767Ser)
|
rs536503540
|
0.00006
|
NM_000138.5(FBN1):c.8310C>T (p.His2770=)
|
rs112189340
|
0.00006
|
NM_000138.5(FBN1):c.8311G>A (p.Val2771Ile)
|
rs193922244
|
0.00006
|
NM_000138.5(FBN1):c.2445T>G (p.Pro815=)
|
rs368004231
|
0.00005
|
NM_000138.5(FBN1):c.2927G>A (p.Arg976His)
|
rs140954477
|
0.00005
|
NM_000138.5(FBN1):c.466A>C (p.Asn156His)
|
rs746352371
|
0.00005
|
NM_000138.5(FBN1):c.6699C>T (p.Pro2233=)
|
rs372386014
|
0.00005
|
NM_000138.5(FBN1):c.6852T>C (p.Pro2284=)
|
rs201226058
|
0.00005
|
NM_000138.5(FBN1):c.7051G>A (p.Gly2351Ser)
|
rs746127796
|
0.00005
|
NM_000138.5(FBN1):c.7743C>T (p.Cys2581=)
|
rs765772116
|
0.00005
|
NM_000138.5(FBN1):c.1242T>G (p.Pro414=)
|
rs371929738
|
0.00004
|
NM_000138.5(FBN1):c.1602T>C (p.Cys534=)
|
rs377386372
|
0.00004
|
NM_000138.5(FBN1):c.1837+4C>T
|
rs199950267
|
0.00004
|
NM_000138.5(FBN1):c.1880G>A (p.Arg627His)
|
rs746073643
|
0.00004
|
NM_000138.5(FBN1):c.1884C>T (p.Cys628=)
|
rs150421653
|
0.00004
|
NM_000138.5(FBN1):c.2075T>A (p.Phe692Tyr)
|
rs955639059
|
0.00004
|
NM_000138.5(FBN1):c.2290G>A (p.Val764Ile)
|
rs769641351
|
0.00004
|
NM_000138.5(FBN1):c.2600A>G (p.Asn867Ser)
|
rs145464311
|
0.00004
|
NM_000138.5(FBN1):c.2637C>T (p.Leu879=)
|
rs202163602
|
0.00004
|
NM_000138.5(FBN1):c.2753C>G (p.Pro918Arg)
|
rs557798071
|
0.00004
|
NM_000138.5(FBN1):c.3462C>T (p.Ile1154=)
|
rs144339604
|
0.00004
|
NM_000138.5(FBN1):c.3503A>G (p.Asn1168Ser)
|
rs776667707
|
0.00004
|
NM_000138.5(FBN1):c.350A>G (p.Gln117Arg)
|
rs777826174
|
0.00004
|
NM_000138.5(FBN1):c.3837A>G (p.Val1279=)
|
rs59007872
|
0.00004
|
NM_000138.5(FBN1):c.3896C>T (p.Thr1299Met)
|
rs774851476
|
0.00004
|
NM_000138.5(FBN1):c.405A>G (p.Leu135=)
|
rs187254268
|
0.00004
|
NM_000138.5(FBN1):c.4095C>T (p.Asp1365=)
|
rs375402043
|
0.00004
|
NM_000138.5(FBN1):c.4163G>A (p.Arg1388His)
|
rs749196340
|
0.00004
|
NM_000138.5(FBN1):c.4176G>A (p.Lys1392=)
|
rs141633998
|
0.00004
|
NM_000138.5(FBN1):c.4371C>T (p.Val1457=)
|
rs781641370
|
0.00004
|
NM_000138.5(FBN1):c.492T>C (p.Asn164=)
|
rs778007582
|
0.00004
|
NM_000138.5(FBN1):c.538+4A>G
|
rs375721252
|
0.00004
|
NM_000138.5(FBN1):c.5442C>T (p.Asn1814=)
|
rs397515822
|
0.00004
|
NM_000138.5(FBN1):c.5724A>G (p.Thr1908=)
|
rs141219664
|
0.00004
|
NM_000138.5(FBN1):c.5921T>C (p.Ile1974Thr)
|
rs765878996
|
0.00004
|
NM_000138.5(FBN1):c.6052G>A (p.Val2018Ile)
|
rs363802
|
0.00004
|
NM_000138.5(FBN1):c.7230C>T (p.His2410=)
|
rs193922231
|
0.00004
|
NM_000138.5(FBN1):c.8004C>T (p.Gly2668=)
|
rs371285755
|
0.00004
|
NM_000138.5(FBN1):c.8179G>A (p.Gly2727Ser)
|
rs758748297
|
0.00004
|
NM_000138.5(FBN1):c.8299A>G (p.Asn2767Asp)
|
rs771437236
|
0.00004
|
NM_000138.5(FBN1):c.8542A>C (p.Lys2848Gln)
|
rs199846998
|
0.00004
|
NM_000138.5(FBN1):c.1158C>T (p.Asn386=)
|
rs368737502
|
0.00003
|
NM_000138.5(FBN1):c.1668G>A (p.Val556=)
|
rs761662654
|
0.00003
|
NM_000138.5(FBN1):c.1992A>T (p.Gly664=)
|
rs183929553
|
0.00003
|
NM_000138.5(FBN1):c.2056G>A (p.Ala686Thr)
|
rs377621293
|
0.00003
|
NM_000138.5(FBN1):c.2658G>A (p.Pro886=)
|
rs193922192
|
0.00003
|
NM_000138.5(FBN1):c.2745A>G (p.Glu915=)
|
rs1285398012
|
0.00003
|
NM_000138.5(FBN1):c.2930T>G (p.Met977Arg)
|
rs199682686
|
0.00003
|
NM_000138.5(FBN1):c.3216C>T (p.Asp1072=)
|
rs757177349
|
0.00003
|
NM_000138.5(FBN1):c.3389A>G (p.His1130Arg)
|
rs747189975
|
0.00003
|
NM_000138.5(FBN1):c.3455C>T (p.Ala1152Val)
|
rs539103389
|
0.00003
|
NM_000138.5(FBN1):c.3480G>A (p.Glu1160=)
|
rs149625173
|
0.00003
|
NM_000138.5(FBN1):c.3523A>G (p.Ile1175Val)
|
rs756754760
|
0.00003
|
NM_000138.5(FBN1):c.3906A>G (p.Ser1302=)
|
rs756186103
|
0.00003
|
NM_000138.5(FBN1):c.4337-5C>G
|
rs370959127
|
0.00003
|
NM_000138.5(FBN1):c.4413G>A (p.Glu1471=)
|
rs756143911
|
0.00003
|
NM_000138.5(FBN1):c.4650C>T (p.Ser1550=)
|
rs933962712
|
0.00003
|
NM_000138.5(FBN1):c.4719T>C (p.Pro1573=)
|
rs761947423
|
0.00003
|
NM_000138.5(FBN1):c.4803C>T (p.Thr1601=)
|
rs747757998
|
0.00003
|
NM_000138.5(FBN1):c.5311C>T (p.Arg1771Trp)
|
rs767884599
|
0.00003
|
NM_000138.5(FBN1):c.6189G>A (p.Ala2063=)
|
rs375624881
|
0.00003
|
NM_000138.5(FBN1):c.6338A>T (p.Tyr2113Phe)
|
rs363816
|
0.00003
|
NM_000138.5(FBN1):c.6623A>G (p.Asn2208Ser)
|
rs146063839
|
0.00003
|
NM_000138.5(FBN1):c.6819G>A (p.Met2273Ile)
|
rs778027769
|
0.00003
|
NM_000138.5(FBN1):c.6903C>T (p.Ile2301=)
|
rs146930301
|
0.00003
|
NM_000138.5(FBN1):c.7395T>C (p.Ser2465=)
|
rs774341590
|
0.00003
|
NM_000138.5(FBN1):c.7451A>G (p.Lys2484Arg)
|
rs374630707
|
0.00003
|
NM_000138.5(FBN1):c.7677T>C (p.Asp2559=)
|
rs182358927
|
0.00003
|
NM_000138.5(FBN1):c.7684G>A (p.Gly2562Ser)
|
rs1397580172
|
0.00003
|
NM_000138.5(FBN1):c.7842T>G (p.Ala2614=)
|
rs764496589
|
0.00003
|
NM_000138.5(FBN1):c.8219A>G (p.Asn2740Ser)
|
rs193922242
|
0.00003
|
NM_000138.5(FBN1):c.8224G>A (p.Glu2742Lys)
|
rs750199580
|
0.00003
|
NM_000138.5(FBN1):c.8433G>A (p.Gly2811=)
|
rs771873118
|
0.00003
|
NM_000138.5(FBN1):c.843A>C (p.Glu281Asp)
|
rs772218768
|
0.00003
|
NM_000138.5(FBN1):c.8616A>G (p.Ter2872=)
|
rs374499193
|
0.00003
|
NM_000138.5(FBN1):c.1370G>A (p.Arg457His)
|
rs141217134
|
0.00002
|
NM_000138.5(FBN1):c.1562G>A (p.Ser521Asn)
|
rs749253325
|
0.00002
|
NM_000138.5(FBN1):c.19C>T (p.Leu7=)
|
rs139161583
|
0.00002
|
NM_000138.5(FBN1):c.2093C>T (p.Pro698Leu)
|
rs764827921
|
0.00002
|
NM_000138.5(FBN1):c.2154G>A (p.Thr718=)
|
rs377033515
|
0.00002
|
NM_000138.5(FBN1):c.2547C>G (p.Ile849Met)
|
rs778258207
|
0.00002
|
NM_000138.5(FBN1):c.2854+5A>G
|
rs762989672
|
0.00002
|
NM_000138.5(FBN1):c.3026C>G (p.Pro1009Arg)
|
rs148076256
|
0.00002
|
NM_000138.5(FBN1):c.3513C>T (p.Cys1171=)
|
rs775417975
|
0.00002
|
NM_000138.5(FBN1):c.3777A>C (p.Gly1259=)
|
rs1404903351
|
0.00002
|
NM_000138.5(FBN1):c.4026A>G (p.Thr1342=)
|
rs752154066
|
0.00002
|
NM_000138.5(FBN1):c.4337-3A>C
|
rs770551687
|
0.00002
|
NM_000138.5(FBN1):c.4358C>T (p.Pro1453Leu)
|
rs368650399
|
0.00002
|
NM_000138.5(FBN1):c.4665T>C (p.Val1555=)
|
rs191569116
|
0.00002
|
NM_000138.5(FBN1):c.467A>G (p.Asn156Ser)
|
rs779490973
|
0.00002
|
NM_000138.5(FBN1):c.5180G>A (p.Arg1727Gln)
|
rs780993677
|
0.00002
|
NM_000138.5(FBN1):c.5292C>T (p.Pro1764=)
|
rs111756438
|
0.00002
|
NM_000138.5(FBN1):c.5443G>A (p.Gly1815Ser)
|
rs745680336
|
0.00002
|
NM_000138.5(FBN1):c.5518C>T (p.Arg1840Cys)
|
rs765387131
|
0.00002
|
NM_000138.5(FBN1):c.601G>A (p.Gly201Arg)
|
rs748358548
|
0.00002
|
NM_000138.5(FBN1):c.6129G>C (p.Gly2043=)
|
rs766473100
|
0.00002
|
NM_000138.5(FBN1):c.6180C>T (p.Tyr2060=)
|
rs974604498
|
0.00002
|
NM_000138.5(FBN1):c.6534T>A (p.Asn2178Lys)
|
rs770257902
|
0.00002
|
NM_000138.5(FBN1):c.6616+5A>G
|
rs1381778697
|
0.00002
|
NM_000138.5(FBN1):c.688C>T (p.Pro230Ser)
|
rs763347530
|
0.00002
|
NM_000138.5(FBN1):c.7400A>G (p.Gln2467Arg)
|
rs770839761
|
0.00002
|
NM_000138.5(FBN1):c.7533T>C (p.Cys2511=)
|
rs750331217
|
0.00002
|
NM_000138.5(FBN1):c.7683C>T (p.Thr2561=)
|
rs758353830
|
0.00002
|
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)
|
rs727503054
|
0.00002
|
NM_000138.5(FBN1):c.8130C>T (p.Leu2710=)
|
rs372105662
|
0.00002
|
NM_000138.5(FBN1):c.1167C>T (p.Cys389=)
|
rs746201757
|
0.00001
|
NM_000138.5(FBN1):c.1177A>G (p.Met393Val)
|
rs983129867
|
0.00001
|
NM_000138.5(FBN1):c.1215C>A (p.Pro405=)
|
rs1213208601
|
0.00001
|
NM_000138.5(FBN1):c.1289C>T (p.Pro430Leu)
|
rs771134832
|
0.00001
|
NM_000138.5(FBN1):c.1344C>T (p.Asn448=)
|
rs1281826850
|
0.00001
|
NM_000138.5(FBN1):c.1494C>T (p.Pro498=)
|
rs765595961
|
0.00001
|
NM_000138.5(FBN1):c.149A>T (p.His50Leu)
|
rs886039132
|
0.00001
|
NM_000138.5(FBN1):c.15T>C (p.Arg5=)
|
rs1371787168
|
0.00001
|
NM_000138.5(FBN1):c.1605A>G (p.Leu535=)
|
rs778013543
|
0.00001
|
NM_000138.5(FBN1):c.1639A>G (p.Ile547Val)
|
rs759813328
|
0.00001
|
NM_000138.5(FBN1):c.1653C>T (p.Gly551=)
|
rs766565738
|
0.00001
|
NM_000138.5(FBN1):c.1693C>T (p.Arg565Ter)
|
rs113422242
|
0.00001
|
NM_000138.5(FBN1):c.1731C>T (p.Ser577=)
|
rs1453708754
|
0.00001
|
NM_000138.5(FBN1):c.1779T>C (p.Ser593=)
|
rs372195702
|
0.00001
|
NM_000138.5(FBN1):c.1844A>G (p.Asn615Ser)
|
rs397515763
|
0.00001
|
NM_000138.5(FBN1):c.1845C>T (p.Asn615=)
|
rs932735615
|
0.00001
|
NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys)
|
rs727503057
|
0.00001
|
NM_000138.5(FBN1):c.1991G>A (p.Gly664Glu)
|
rs1436966674
|
0.00001
|
NM_000138.5(FBN1):c.207T>C (p.Pro69=)
|
rs771057822
|
0.00001
|
NM_000138.5(FBN1):c.2082A>G (p.Glu694=)
|
rs773288488
|
0.00001
|
NM_000138.5(FBN1):c.2126C>G (p.Ala709Gly)
|
rs794728184
|
0.00001
|
NM_000138.5(FBN1):c.2127A>C (p.Ala709=)
|
rs886038990
|
0.00001
|
NM_000138.5(FBN1):c.2208T>G (p.Asn736Lys)
|
rs1450795956
|
0.00001
|
NM_000138.5(FBN1):c.2228G>A (p.Arg743His)
|
rs761942436
|
0.00001
|
NM_000138.5(FBN1):c.2406A>G (p.Leu802=)
|
rs1490836069
|
0.00001
|
NM_000138.5(FBN1):c.2449A>G (p.Ile817Val)
|
rs965020667
|
0.00001
|
NM_000138.5(FBN1):c.2577T>C (p.Asp859=)
|
rs779997664
|
0.00001
|
NM_000138.5(FBN1):c.2628C>T (p.Cys876=)
|
rs112085967
|
0.00001
|
NM_000138.5(FBN1):c.2640T>G (p.Gly880=)
|
rs1597568836
|
0.00001
|
NM_000138.5(FBN1):c.2684T>C (p.Ile895Thr)
|
rs1488064078
|
0.00001
|
NM_000138.5(FBN1):c.2748G>A (p.Val916=)
|
rs1339922695
|
0.00001
|
NM_000138.5(FBN1):c.2768A>G (p.Asn923Ser)
|
rs1220842179
|
0.00001
|
NM_000138.5(FBN1):c.2773C>G (p.Leu925Val)
|
rs149681175
|
0.00001
|
NM_000138.5(FBN1):c.287G>C (p.Arg96Thr)
|
rs794728291
|
0.00001
|
NM_000138.5(FBN1):c.2883G>A (p.Arg961=)
|
rs142964120
|
0.00001
|
NM_000138.5(FBN1):c.2886C>T (p.Tyr962=)
|
rs772108557
|
0.00001
|
NM_000138.5(FBN1):c.2909C>T (p.Pro970Leu)
|
rs751985082
|
0.00001
|
NM_000138.5(FBN1):c.2920C>T (p.Arg974Cys)
|
rs397514558
|
0.00001
|
NM_000138.5(FBN1):c.3043G>A (p.Ala1015Thr)
|
rs55831697
|
0.00001
|
NM_000138.5(FBN1):c.3089A>G (p.Asn1030Ser)
|
rs375996640
|
0.00001
|
NM_000138.5(FBN1):c.3128A>G (p.Lys1043Arg)
|
rs137854472
|
0.00001
|
NM_000138.5(FBN1):c.3330C>T (p.Asn1110=)
|
rs374584763
|
0.00001
|
NM_000138.5(FBN1):c.3376G>A (p.Gly1126Ser)
|
rs1437464599
|
0.00001
|
NM_000138.5(FBN1):c.3400G>A (p.Gly1134Arg)
|
rs372404949
|
0.00001
|
NM_000138.5(FBN1):c.3409C>T (p.Arg1137Cys)
|
rs1439487763
|
0.00001
|
NM_000138.5(FBN1):c.3463G>A (p.Asp1155Asn)
|
rs794728204
|
0.00001
|
NM_000138.5(FBN1):c.347-2A>G
|
rs1555405056
|
0.00001
|
NM_000138.5(FBN1):c.3522C>T (p.Leu1174=)
|
rs778312047
|
0.00001
|
NM_000138.5(FBN1):c.3570C>T (p.Pro1190=)
|
rs188317014
|
0.00001
|
NM_000138.5(FBN1):c.3592A>G (p.Ile1198Val)
|
rs370572503
|
0.00001
|
NM_000138.5(FBN1):c.3654C>T (p.Ser1218=)
|
rs760712674
|
0.00001
|
NM_000138.5(FBN1):c.3674C>T (p.Pro1225Leu)
|
rs775532488
|
0.00001
|
NM_000138.5(FBN1):c.3689T>C (p.Met1230Thr)
|
rs774003646
|
0.00001
|
NM_000138.5(FBN1):c.3711C>T (p.Thr1237=)
|
rs536369260
|
0.00001
|
NM_000138.5(FBN1):c.3717C>T (p.Ile1239=)
|
rs759387957
|
0.00001
|
NM_000138.5(FBN1):c.3718G>A (p.Asp1240Asn)
|
rs573187346
|
0.00001
|
NM_000138.5(FBN1):c.3797A>T (p.Tyr1266Phe)
|
rs200283837
|
0.00001
|
NM_000138.5(FBN1):c.3897G>A (p.Thr1299=)
|
rs771283158
|
0.00001
|
NM_000138.5(FBN1):c.393C>T (p.Asp131=)
|
rs549054625
|
0.00001
|
NM_000138.5(FBN1):c.3969C>T (p.Ile1323=)
|
rs536546914
|
0.00001
|
NM_000138.5(FBN1):c.4007A>G (p.His1336Arg)
|
rs886038781
|
0.00001
|
NM_000138.5(FBN1):c.4057G>A (p.Gly1353Arg)
|
rs187177496
|
0.00001
|
NM_000138.5(FBN1):c.4075A>G (p.Ile1359Val)
|
rs202192505
|
0.00001
|
NM_000138.5(FBN1):c.4089T>C (p.Asp1363=)
|
rs751099175
|
0.00001
|
NM_000138.5(FBN1):c.4161C>T (p.Tyr1387=)
|
rs1332403498
|
0.00001
|
NM_000138.5(FBN1):c.4209A>G (p.Thr1403=)
|
rs886038931
|
0.00001
|
NM_000138.5(FBN1):c.4460-8G>A
|
rs193922204
|
0.00001
|
NM_000138.5(FBN1):c.4707C>G (p.Ala1569=)
|
rs397515813
|
0.00001
|
NM_000138.5(FBN1):c.4747T>G (p.Ser1583Ala)
|
rs959567666
|
0.00001
|
NM_000138.5(FBN1):c.484G>A (p.Ala162Thr)
|
rs193922210
|
0.00001
|
NM_000138.5(FBN1):c.4895G>A (p.Arg1632His)
|
rs756227025
|
0.00001
|
NM_000138.5(FBN1):c.4931G>A (p.Arg1644Gln)
|
rs768366890
|
0.00001
|
NM_000138.5(FBN1):c.4980A>G (p.Pro1660=)
|
rs757202254
|
0.00001
|
NM_000138.5(FBN1):c.5103T>G (p.Ala1701=)
|
rs1163353168
|
0.00001
|
NM_000138.5(FBN1):c.5142G>A (p.Met1714Ile)
|
rs368287795
|
0.00001
|
NM_000138.5(FBN1):c.5184G>A (p.Ala1728=)
|
rs754660497
|
0.00001
|
NM_000138.5(FBN1):c.5340A>C (p.Gly1780=)
|
rs766501385
|
0.00001
|
NM_000138.5(FBN1):c.5430C>T (p.Asp1810=)
|
rs765338162
|
0.00001
|
NM_000138.5(FBN1):c.5459G>A (p.Arg1820His)
|
rs1340155407
|
0.00001
|
NM_000138.5(FBN1):c.5511C>T (p.Pro1837=)
|
rs372767912
|
0.00001
|
NM_000138.5(FBN1):c.5512G>A (p.Gly1838Ser)
|
rs397515823
|
0.00001
|
NM_000138.5(FBN1):c.5548C>T (p.Arg1850Cys)
|
rs750720912
|
0.00001
|
NM_000138.5(FBN1):c.5549G>A (p.Arg1850His)
|
rs779174265
|
0.00001
|
NM_000138.5(FBN1):c.5649T>C (p.Asn1883=)
|
rs1192296578
|
0.00001
|
NM_000138.5(FBN1):c.5753A>G (p.His1918Arg)
|
rs993464239
|
0.00001
|
NM_000138.5(FBN1):c.5776A>G (p.Asn1926Asp)
|
rs1060501097
|
0.00001
|
NM_000138.5(FBN1):c.5776_5778del (p.Asn1926del)
|
rs886038964
|
0.00001
|
NM_000138.5(FBN1):c.5788+5G>A
|
rs193922219
|
0.00001
|
NM_000138.5(FBN1):c.5805A>C (p.Ala1935=)
|
rs755825254
|
0.00001
|
NM_000138.5(FBN1):c.590G>A (p.Gly197Glu)
|
rs895824095
|
0.00001
|
NM_000138.5(FBN1):c.598A>G (p.Ser200Gly)
|
rs1057036462
|
0.00001
|
NM_000138.5(FBN1):c.5991A>G (p.Arg1997=)
|
rs201346996
|
0.00001
|
NM_000138.5(FBN1):c.6001C>T (p.Pro2001Ser)
|
rs921321822
|
0.00001
|
NM_000138.5(FBN1):c.6025G>A (p.Glu2009Lys)
|
rs773204216
|
0.00001
|
NM_000138.5(FBN1):c.6187G>A (p.Ala2063Thr)
|
rs1316593215
|
0.00001
|
NM_000138.5(FBN1):c.6354C>T (p.Ile2118=)
|
rs112989722
|
0.00001
|
NM_000138.5(FBN1):c.639C>T (p.Val213=)
|
rs543984363
|
0.00001
|
NM_000138.5(FBN1):c.6402C>T (p.Pro2134=)
|
rs772439885
|
0.00001
|
NM_000138.5(FBN1):c.6403G>A (p.Asp2135Asn)
|
rs746167150
|
0.00001
|
NM_000138.5(FBN1):c.6417T>C (p.His2139=)
|
rs551162566
|
0.00001
|
NM_000138.5(FBN1):c.643C>G (p.Arg215Gly)
|
rs111687884
|
0.00001
|
NM_000138.5(FBN1):c.6448C>T (p.Arg2150Cys)
|
rs76702162
|
0.00001
|
NM_000138.5(FBN1):c.6724C>T (p.Arg2242Cys)
|
rs779749926
|
0.00001
|
NM_000138.5(FBN1):c.6768T>C (p.His2256=)
|
rs1047633779
|
0.00001
|
NM_000138.5(FBN1):c.6772T>G (p.Cys2258Gly)
|
rs1057520617
|
0.00001
|
NM_000138.5(FBN1):c.6783A>C (p.Lys2261Asn)
|
rs771716423
|
0.00001
|
NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr)
|
rs193922228
|
0.00001
|
NM_000138.5(FBN1):c.6845G>A (p.Arg2282Gln)
|
rs759696323
|
0.00001
|
NM_000138.5(FBN1):c.687C>G (p.His229Gln)
|
rs1391600366
|
0.00001
|
NM_000138.5(FBN1):c.6891G>A (p.Thr2297=)
|
rs764092264
|
0.00001
|
NM_000138.5(FBN1):c.6932G>A (p.Arg2311His)
|
rs141868829
|
0.00001
|
NM_000138.5(FBN1):c.6969C>T (p.Thr2323=)
|
rs773655866
|
0.00001
|
NM_000138.5(FBN1):c.7071C>T (p.Pro2357=)
|
rs397515843
|
0.00001
|
NM_000138.5(FBN1):c.7082C>T (p.Ser2361Leu)
|
rs397515844
|
0.00001
|
NM_000138.5(FBN1):c.7339G>A (p.Glu2447Lys)
|
rs137854464
|
0.00001
|
NM_000138.5(FBN1):c.7360C>A (p.Pro2454Thr)
|
rs1166405014
|
0.00001
|
NM_000138.5(FBN1):c.7413G>A (p.Pro2471=)
|
rs769588855
|
0.00001
|
NM_000138.5(FBN1):c.7559C>T (p.Thr2520Met)
|
rs763759308
|
0.00001
|
NM_000138.5(FBN1):c.7598A>G (p.Asn2533Ser)
|
rs111231879
|
0.00001
|
NM_000138.5(FBN1):c.759C>T (p.Ile253=)
|
rs1403909880
|
0.00001
|
NM_000138.5(FBN1):c.7602G>A (p.Leu2534=)
|
rs1392530685
|
0.00001
|
NM_000138.5(FBN1):c.7617C>T (p.Gly2539=)
|
rs1388794275
|
0.00001
|
NM_000138.5(FBN1):c.762C>T (p.Pro254=)
|
rs374318726
|
0.00001
|
NM_000138.5(FBN1):c.7749C>T (p.Asn2583=)
|
rs374951628
|
0.00001
|
NM_000138.5(FBN1):c.7773C>T (p.Ser2591=)
|
rs764526450
|
0.00001
|
NM_000138.5(FBN1):c.7836C>T (p.Leu2612=)
|
rs756689495
|
0.00001
|
NM_000138.5(FBN1):c.7916A>G (p.Tyr2639Cys)
|
rs794728280
|
0.00001
|
NM_000138.5(FBN1):c.7929T>C (p.Ser2643=)
|
rs745524158
|
0.00001
|
NM_000138.5(FBN1):c.7949A>G (p.Asn2650Ser)
|
rs756819682
|
0.00001
|
NM_000138.5(FBN1):c.8051+5G>A
|
rs767384075
|
0.00001
|
NM_000138.5(FBN1):c.8189G>A (p.Arg2730Gln)
|
rs200231626
|
0.00001
|
NM_000138.5(FBN1):c.8198C>G (p.Thr2733Arg)
|
rs794728340
|
0.00001
|
NM_000138.5(FBN1):c.8218A>G (p.Asn2740Asp)
|
rs397515860
|
0.00001
|
NM_000138.5(FBN1):c.8223C>T (p.Ile2741=)
|
rs150065311
|
0.00001
|
NM_000138.5(FBN1):c.8227-3C>T
|
rs200822151
|
0.00001
|
NM_000138.5(FBN1):c.8326C>T (p.Arg2776Ter)
|
rs137854466
|
0.00001
|
NM_000138.5(FBN1):c.8364G>A (p.Thr2788=)
|
rs112945086
|
0.00001
|
NM_000138.5(FBN1):c.8449T>G (p.Phe2817Val)
|
rs148741353
|
0.00001
|
NM_000138.5(FBN1):c.8537A>G (p.Glu2846Gly)
|
rs754570125
|
0.00001
|
NM_000138.5(FBN1):c.855A>G (p.Lys285=)
|
rs1272913373
|
0.00001
|
NM_000138.5(FBN1):c.863A>G (p.Asp288Gly)
|
rs565078451
|
0.00001
|
NM_000138.5(FBN1):c.921A>C (p.Thr307=)
|
rs1341105449
|
0.00001
|
NM_000138.5(FBN1):c.963C>T (p.Thr321=)
|
rs767914958
|
0.00001
|
NM_000138.4(FBN1):c.2127_2130delACTCins11 (p.?)
|
|
|
NM_000138.4(FBN1):c.5067_5073delTATGAGA
|
rs886038823
|
|
NM_000138.4:c.1783_1784insALU
|
|
|
NM_000138.5(FBN1):c.111del (p.Arg38fs)
|
rs1555407416
|
|
NM_000138.5(FBN1):c.112A>G (p.Arg38Gly)
|
|
|
NM_000138.5(FBN1):c.1148-1G>C
|
|
|
NM_000138.5(FBN1):c.1158C>G (p.Asn386Lys)
|
rs368737502
|
|
NM_000138.5(FBN1):c.1185T>C (p.Ile395=)
|
|
|
NM_000138.5(FBN1):c.1191dup (p.Arg398fs)
|
rs886038972
|
|
NM_000138.5(FBN1):c.1195C>G (p.Pro399Ala)
|
rs886039155
|
|
NM_000138.5(FBN1):c.1211C>T (p.Pro404Leu)
|
rs779930519
|
|
NM_000138.5(FBN1):c.1211dup (p.Pro405fs)
|
rs112289537
|
|
NM_000138.5(FBN1):c.1212A>C (p.Pro404=)
|
rs1566917021
|
|
NM_000138.5(FBN1):c.1216del (p.Gly407fs)
|
rs2141331057
|
|
NM_000138.5(FBN1):c.1238_1239insAG (p.Pro414fs)
|
rs2043800325
|
|
NM_000138.5(FBN1):c.1278G>A (p.Pro426=)
|
rs113245313
|
|
NM_000138.5(FBN1):c.1278G>T (p.Pro426=)
|
rs113245313
|
|
NM_000138.5(FBN1):c.1285C>T (p.Arg429Ter)
|
rs112645512
|
|
NM_000138.5(FBN1):c.1286G>C (p.Arg429Pro)
|
|
|
NM_000138.5(FBN1):c.1288C>A (p.Pro430Thr)
|
rs2043799392
|
|
NM_000138.5(FBN1):c.1311A>G (p.Pro437=)
|
rs1253494702
|
|
NM_000138.5(FBN1):c.1315C>T (p.Arg439Trp)
|
|
|
NM_000138.5(FBN1):c.1328-1G>A
|
|
|
NM_000138.5(FBN1):c.132A>T (p.Arg44Ser)
|
rs1890259134
|
|
NM_000138.5(FBN1):c.1377C>G (p.Leu459=)
|
|
|
NM_000138.5(FBN1):c.1415= (p.Tyr472=)
|
rs113936729
|
|
NM_000138.5(FBN1):c.1421G>A (p.Cys474Tyr)
|
rs794728166
|
|
NM_000138.5(FBN1):c.1421G>T (p.Cys474Phe)
|
rs794728166
|
|
NM_000138.5(FBN1):c.1422T>C (p.Cys474=)
|
|
|
NM_000138.5(FBN1):c.1427dup (p.Cys476fs)
|
|
|
NM_000138.5(FBN1):c.1428C>G (p.Cys476Trp)
|
|
|
NM_000138.5(FBN1):c.1435G>T (p.Gly479Trp)
|
|
|
NM_000138.5(FBN1):c.1453C>T (p.Arg485Cys)
|
rs137854485
|
|
NM_000138.5(FBN1):c.1463G>A (p.Cys488Tyr)
|
rs1555400372
|
|
NM_000138.5(FBN1):c.1468+5G>A
|
rs397515757
|
|
NM_000138.5(FBN1):c.1468G>C (p.Asp490His)
|
|
|
NM_000138.5(FBN1):c.1495del (p.Cys499fs)
|
|
|
NM_000138.5(FBN1):c.1504G>T (p.Gly502Cys)
|
rs762111810
|
|
NM_000138.5(FBN1):c.1506T>C (p.Gly502=)
|
rs770426679
|
|
NM_000138.5(FBN1):c.1511G>A (p.Cys504Tyr)
|
rs1156747241
|
|
NM_000138.5(FBN1):c.1512T>A (p.Cys504Ter)
|
rs1555400285
|
|
NM_000138.5(FBN1):c.1530G>T (p.Ser510=)
|
rs147511977
|
|
NM_000138.5(FBN1):c.1546C>T (p.Arg516Ter)
|
rs113812345
|
|
NM_000138.5(FBN1):c.1553G>C (p.Gly518Ala)
|
|
|
NM_000138.5(FBN1):c.1556A>G (p.Tyr519Cys)
|
rs1555400278
|
|
NM_000138.5(FBN1):c.1571del (p.Thr524fs)
|
rs886038817
|
|
NM_000138.5(FBN1):c.1585C>T (p.Arg529Ter)
|
rs137854476
|
|
NM_000138.5(FBN1):c.1588+3A>G
|
|
|
NM_000138.5(FBN1):c.1599G>A (p.Glu533=)
|
|
|
NM_000138.5(FBN1):c.1633C>T (p.Arg545Cys)
|
rs730880099
|
|
NM_000138.5(FBN1):c.164+1G>C
|
|
|
NM_000138.5(FBN1):c.1640T>A (p.Ile547Asn)
|
rs112269822
|
|
NM_000138.5(FBN1):c.1641C>G (p.Ile547Met)
|
|
|
NM_000138.5(FBN1):c.164G>C (p.Gly55Ala)
|
|
|
NM_000138.5(FBN1):c.165A>T (p.Gly55=)
|
|
|
NM_000138.5(FBN1):c.1663T>C (p.Cys555Arg)
|
rs2043746138
|
|
NM_000138.5(FBN1):c.1665C>A (p.Cys555Ter)
|
rs531101773
|
|
NM_000138.5(FBN1):c.1677G>A (p.Ala559=)
|
|
|
NM_000138.5(FBN1):c.1708T>C (p.Cys570Arg)
|
rs113902534
|
|
NM_000138.5(FBN1):c.1710T>A (p.Cys570Ter)
|
rs193922183
|
|
NM_000138.5(FBN1):c.1754G>A (p.Gly585Glu)
|
rs1060501041
|
|
NM_000138.5(FBN1):c.1761T>C (p.Cys587=)
|
rs1060504143
|
|
NM_000138.5(FBN1):c.1787G>A (p.Cys596Tyr)
|
rs2043732180
|
|
NM_000138.5(FBN1):c.1807C>T (p.Gln603Ter)
|
rs886038963
|
|
NM_000138.5(FBN1):c.182C>G (p.Ser61Ter)
|
|
|
NM_000138.5(FBN1):c.1837+5G>A
|
rs1445085747
|
|
NM_000138.5(FBN1):c.1837G>A (p.Asp613Asn)
|
rs1555399943
|
|
NM_000138.5(FBN1):c.1839_1840delinsGAAGGT (p.Asp613fs)
|
rs1555399839
|
|
NM_000138.5(FBN1):c.1846G>A (p.Glu616Lys)
|
rs397515764
|
|
NM_000138.5(FBN1):c.1846G>T (p.Glu616Ter)
|
rs397515764
|
|
NM_000138.5(FBN1):c.184C>T (p.Arg62Cys)
|
rs25403
|
|
NM_000138.5(FBN1):c.1852dup (p.Glu618fs)
|
rs1555399835
|
|
NM_000138.5(FBN1):c.1860T>C (p.Pro620=)
|
rs1555399834
|
|
NM_000138.5(FBN1):c.1868G>T (p.Cys623Phe)
|
rs1566914030
|
|
NM_000138.5(FBN1):c.1876G>A (p.Gly626Arg)
|
rs794728177
|
|
NM_000138.5(FBN1):c.1878del (p.Arg627fs)
|
|
|
NM_000138.5(FBN1):c.1881T>A (p.Arg627=)
|
|
|
NM_000138.5(FBN1):c.1891del (p.Thr631fs)
|
|
|
NM_000138.5(FBN1):c.1904A>G (p.Tyr635Cys)
|
rs1555399816
|
|
NM_000138.5(FBN1):c.1908A>G (p.Arg636=)
|
rs886039089
|
|
NM_000138.5(FBN1):c.1909T>A (p.Cys637Ser)
|
|
|
NM_000138.5(FBN1):c.1930G>C (p.Ala644Pro)
|
rs1555399809
|
|
NM_000138.5(FBN1):c.1948C>T (p.Arg650Cys)
|
rs193922185
|
|
NM_000138.5(FBN1):c.199T>C (p.Cys67Arg)
|
rs2140737496
|
|
NM_000138.5(FBN1):c.1A>C (p.Met1Leu)
|
rs730880097
|
|
NM_000138.5(FBN1):c.1A>G (p.Met1Val)
|
rs730880097
|
|
NM_000138.5(FBN1):c.202T>A (p.Cys68Ser)
|
rs113604459
|
|
NM_000138.5(FBN1):c.2050T>C (p.Cys684Arg)
|
rs1555399764
|
|
NM_000138.5(FBN1):c.2058_2063del (p.Ser687_Thr688del)
|
rs794728298
|
|
NM_000138.5(FBN1):c.208G>A (p.Gly70Arg)
|
rs2044669023
|
|
NM_000138.5(FBN1):c.209G>T (p.Gly70Val)
|
|
|
NM_000138.5(FBN1):c.2113+1G>A
|
rs1566913670
|
|
NM_000138.5(FBN1):c.2114C>T (p.Ala705Val)
|
rs1426292408
|
|
NM_000138.5(FBN1):c.2121T>A (p.Tyr707Ter)
|
|
|
NM_000138.5(FBN1):c.2131T>C (p.Cys711Arg)
|
rs1555399481
|
|
NM_000138.5(FBN1):c.2150_2153delinsGTG (p.Met717fs)
|
|
|
NM_000138.5(FBN1):c.2168-2A>G
|
rs1555399388
|
|
NM_000138.5(FBN1):c.2168A>C (p.Asp723Ala)
|
rs137854463
|
|
NM_000138.5(FBN1):c.2200T>A (p.Cys734Ser)
|
|
|
NM_000138.5(FBN1):c.2201G>A (p.Cys734Tyr)
|
rs794728187
|
|
NM_000138.5(FBN1):c.2213dup (p.Cys739fs)
|
rs1555399379
|
|
NM_000138.5(FBN1):c.2227del (p.Arg743fs)
|
rs886038769
|
|
NM_000138.5(FBN1):c.2228G>C (p.Arg743Pro)
|
|
|
NM_000138.5(FBN1):c.2241A>G (p.Lys747=)
|
rs1045070535
|
|
NM_000138.5(FBN1):c.2258G>T (p.Gly753Val)
|
rs1555399365
|
|
NM_000138.5(FBN1):c.2271T>C (p.Asp757=)
|
|
|
NM_000138.5(FBN1):c.2287T>C (p.Cys763Arg)
|
rs1555399361
|
|
NM_000138.5(FBN1):c.2290G>T (p.Val764Phe)
|
|
|
NM_000138.5(FBN1):c.2292del (p.Asp765fs)
|
rs2141306307
|
|
NM_000138.5(FBN1):c.2293+1G>A
|
rs1060501092
|
|
NM_000138.5(FBN1):c.2294-1G>A
|
|
|
NM_000138.5(FBN1):c.229G>A (p.Gly77Arg)
|
rs794728290
|
|
NM_000138.5(FBN1):c.2302G>A (p.Glu768Lys)
|
|
|
NM_000138.5(FBN1):c.2308G>A (p.Val770Ile)
|
rs1555399280
|
|
NM_000138.5(FBN1):c.2323C>T (p.Leu775Phe)
|
|
|
NM_000138.5(FBN1):c.2334T>C (p.Asn778=)
|
|
|
NM_000138.5(FBN1):c.2339A>T (p.Gln780Leu)
|
rs886039058
|
|
NM_000138.5(FBN1):c.2340A>G (p.Gln780=)
|
|
|
NM_000138.5(FBN1):c.2341T>C (p.Cys781Arg)
|
rs397515766
|
|
NM_000138.5(FBN1):c.2342G>A (p.Cys781Tyr)
|
rs1555399271
|
|
NM_000138.5(FBN1):c.2343T>C (p.Cys781=)
|
rs199647257
|
|
NM_000138.5(FBN1):c.2369G>A (p.Cys790Tyr)
|
rs193922188
|
|
NM_000138.5(FBN1):c.2375G>T (p.Cys792Phe)
|
rs886038984
|
|
NM_000138.5(FBN1):c.2385A>G (p.Gly795=)
|
rs1207115566
|
|
NM_000138.5(FBN1):c.2398C>G (p.Pro800Ala)
|
|
|
NM_000138.5(FBN1):c.239G>A (p.Cys80Tyr)
|
rs397515767
|
|
NM_000138.5(FBN1):c.2408_2412dup (p.Cys805fs)
|
|
|
NM_000138.5(FBN1):c.2419+1G>A
|
rs1555399257
|
|
NM_000138.5(FBN1):c.2421C>T (p.Asp807=)
|
|
|
NM_000138.5(FBN1):c.2428G>T (p.Glu810Ter)
|
|
|
NM_000138.5(FBN1):c.2432G>A (p.Cys811Tyr)
|
rs1555399210
|
|
NM_000138.5(FBN1):c.2433C>A (p.Cys811Ter)
|
rs193921256
|
|
NM_000138.5(FBN1):c.2463C>G (p.Cys821Trp)
|
rs1555399205
|
|
NM_000138.5(FBN1):c.247+1G>A
|
rs25404
|
|
NM_000138.5(FBN1):c.247+1G>T
|
rs25404
|
|
NM_000138.5(FBN1):c.248-4A>G
|
rs1597631751
|
|
NM_000138.5(FBN1):c.2489G>C (p.Cys830Ser)
|
rs397515774
|
|
NM_000138.5(FBN1):c.2489G>T (p.Cys830Phe)
|
|
|
NM_000138.5(FBN1):c.2493A>G (p.Glu831=)
|
rs756410019
|
|
NM_000138.5(FBN1):c.2495G>T (p.Cys832Phe)
|
rs397515775
|
|
NM_000138.5(FBN1):c.2508T>A (p.Ser836Arg)
|
rs193922190
|
|
NM_000138.5(FBN1):c.2508T>C (p.Ser836=)
|
rs193922190
|
|
NM_000138.5(FBN1):c.2524A>T (p.Lys842Ter)
|
rs886038941
|
|
NM_000138.5(FBN1):c.2581C>T (p.Arg861Ter)
|
rs140583
|
|
NM_000138.5(FBN1):c.2585G>A (p.Cys862Tyr)
|
rs1555399162
|
|
NM_000138.5(FBN1):c.258_260delinsCT (p.His87fs)
|
rs1555405534
|
|
NM_000138.5(FBN1):c.2590A>G (p.Ile864Val)
|
|
|
NM_000138.5(FBN1):c.2624G>A (p.Cys875Tyr)
|
rs886039038
|
|
NM_000138.5(FBN1):c.2630C>T (p.Ser877Phe)
|
rs1555399153
|
|
NM_000138.5(FBN1):c.2639G>A (p.Gly880Asp)
|
rs886038953
|
|
NM_000138.5(FBN1):c.2644G>A (p.Ala882Thr)
|
rs2043594915
|
|
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val)
|
rs794728195
|
|
NM_000138.5(FBN1):c.2646G>A (p.Ala882=)
|
rs376040442
|
|
NM_000138.5(FBN1):c.2665del (p.Leu889fs)
|
rs1555399147
|
|
NM_000138.5(FBN1):c.266G>A (p.Cys89Tyr)
|
rs112660651
|
|
NM_000138.5(FBN1):c.2673A>G (p.Gln891=)
|
rs1555399143
|
|
NM_000138.5(FBN1):c.2677G>A (p.Asp893Asn)
|
rs193922193
|
|
NM_000138.5(FBN1):c.2678-3C>G
|
rs747274959
|
|
NM_000138.5(FBN1):c.2695G>A (p.Gly899Arg)
|
rs869025405
|
|
NM_000138.5(FBN1):c.2722T>C (p.Cys908Arg)
|
rs1060501021
|
|
NM_000138.5(FBN1):c.2723G>A (p.Cys908Tyr)
|
rs1057523406
|
|
NM_000138.5(FBN1):c.2725del (p.Glu909fs)
|
rs886038804
|
|
NM_000138.5(FBN1):c.2728+1G>C
|
rs794728322
|
|
NM_000138.5(FBN1):c.2728+2T>C
|
rs886038898
|
|
NM_000138.5(FBN1):c.2729-2A>G
|
rs113813525
|
|
NM_000138.5(FBN1):c.2729-3del
|
rs756503206
|
|
NM_000138.5(FBN1):c.2740T>G (p.Cys914Gly)
|
rs1555398994
|
|
NM_000138.5(FBN1):c.2779G>A (p.Val927Ile)
|
|
|
NM_000138.5(FBN1):c.2783del (p.Asn928fs)
|
|
|
NM_000138.5(FBN1):c.2786C>G (p.Thr929Ser)
|
|
|
NM_000138.5(FBN1):c.2814del (p.Ser939fs)
|
rs1131691766
|
|
NM_000138.5(FBN1):c.282T>C (p.Cys94=)
|
|
|
NM_000138.5(FBN1):c.2855-1G>C
|
rs112202622
|
|
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.2882G>A (p.Arg961Lys)
|
rs886039100
|
|
NM_000138.5(FBN1):c.2898G>C (p.Glu966Asp)
|
rs1555398829
|
|
NM_000138.5(FBN1):c.2899_2900dup (p.Thr968fs)
|
rs1555398828
|
|
NM_000138.5(FBN1):c.2906del (p.Leu969fs)
|
rs886039154
|
|
NM_000138.5(FBN1):c.2929A>G (p.Met977Val)
|
rs776833421
|
|
NM_000138.5(FBN1):c.2952C>A (p.Val984=)
|
rs374670384
|
|
NM_000138.5(FBN1):c.2952C>T (p.Val984=)
|
rs374670384
|
|
NM_000138.5(FBN1):c.2953G>A (p.Gly985Arg)
|
rs794728199
|
|
NM_000138.5(FBN1):c.2954G>A (p.Gly985Glu)
|
rs137854477
|
|
NM_000138.5(FBN1):c.2955G>A (p.Gly985=)
|
|
|
NM_000138.5(FBN1):c.2969C>T (p.Thr990Ile)
|
|
|
NM_000138.5(FBN1):c.3006T>C (p.Pro1002=)
|
rs2141297191
|
|
NM_000138.5(FBN1):c.3024T>C (p.Cys1008=)
|
rs1057523654
|
|
NM_000138.5(FBN1):c.3037G>A (p.Gly1013Arg)
|
rs140593
|
|
NM_000138.5(FBN1):c.3049A>G (p.Lys1017Glu)
|
|
|
NM_000138.5(FBN1):c.3064G>T (p.Gly1022Ter)
|
|
|
NM_000138.5(FBN1):c.3078C>T (p.Phe1026=)
|
rs553411757
|
|
NM_000138.5(FBN1):c.3082+1G>C
|
rs886038996
|
|
NM_000138.5(FBN1):c.3123C>G (p.His1041Gln)
|
rs576395584
|
|
NM_000138.5(FBN1):c.3123C>T (p.His1041=)
|
rs576395584
|
|
NM_000138.5(FBN1):c.3124G>A (p.Gly1042Ser)
|
rs1555398681
|
|
NM_000138.5(FBN1):c.3125G>A (p.Gly1042Asp)
|
rs1555398680
|
|
NM_000138.5(FBN1):c.3159C>A (p.Cys1053Ter)
|
rs886039054
|
|
NM_000138.5(FBN1):c.3172G>A (p.Gly1058Ser)
|
rs886039208
|
|
NM_000138.5(FBN1):c.319del (p.Gln106_Ile107insTer)
|
|
|
NM_000138.5(FBN1):c.3209-1G>C
|
rs886038956
|
|
NM_000138.5(FBN1):c.3212T>C (p.Ile1071Thr)
|
|
|
NM_000138.5(FBN1):c.3217G>A (p.Glu1073Lys)
|
rs137854478
|
|
NM_000138.5(FBN1):c.3252C>T (p.Gly1084=)
|
|
|
NM_000138.5(FBN1):c.3269del (p.Pro1090fs)
|
rs35656954
|
|
NM_000138.5(FBN1):c.3302A>G (p.Tyr1101Cys)
|
rs1555398625
|
|
NM_000138.5(FBN1):c.3310G>A (p.Gly1104Arg)
|
|
|
NM_000138.5(FBN1):c.3315C>G (p.Phe1105Leu)
|
|
|
NM_000138.5(FBN1):c.3326A>G (p.Lys1109Arg)
|
|
|
NM_000138.5(FBN1):c.3333C>A (p.Cys1111Ter)
|
|
|
NM_000138.5(FBN1):c.3344A>G (p.Asp1115Gly)
|
rs794728203
|
|
NM_000138.5(FBN1):c.3356_3359del (p.Arg1119fs)
|
|
|
NM_000138.5(FBN1):c.3400G>T (p.Gly1134Ter)
|
rs372404949
|
|
NM_000138.5(FBN1):c.3411C>T (p.Arg1137=)
|
rs878853681
|
|
NM_000138.5(FBN1):c.3441C>T (p.Ser1147=)
|
|
|
NM_000138.5(FBN1):c.3457T>C (p.Cys1153Arg)
|
rs886038877
|
|
NM_000138.5(FBN1):c.3507C>T (p.Gly1169=)
|
rs2043514898
|
|
NM_000138.5(FBN1):c.3545G>A (p.Cys1182Tyr)
|
rs1597562812
|
|
NM_000138.5(FBN1):c.3584G>A (p.Cys1195Tyr)
|
rs886038802
|
|
NM_000138.5(FBN1):c.359A>T (p.Asn120Ile)
|
rs753900024
|
|
NM_000138.5(FBN1):c.3607A>C (p.Ile1203Leu)
|
|
|
NM_000138.5(FBN1):c.3623G>T (p.Cys1208Phe)
|
rs1555398406
|
|
NM_000138.5(FBN1):c.3632_3634del (p.Phe1211del)
|
rs1555398404
|
|
NM_000138.5(FBN1):c.364C>T (p.Arg122Cys)
|
rs137854467
|
|
NM_000138.5(FBN1):c.3668G>A (p.Cys1223Tyr)
|
rs137854469
|
|
NM_000138.5(FBN1):c.3669T>A (p.Cys1223Ter)
|
rs886039196
|
|
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn)
|
rs794728208
|
|
NM_000138.5(FBN1):c.3712G>C (p.Asp1238His)
|
rs794728208
|
|
NM_000138.5(FBN1):c.3728A>G (p.Glu1243Gly)
|
rs1555398290
|
|
NM_000138.5(FBN1):c.3746G>C (p.Cys1249Ser)
|
rs137854458
|
|
NM_000138.5(FBN1):c.3750T>G (p.Asp1250Glu)
|
|
|
NM_000138.5(FBN1):c.3751G>T (p.Gly1251Cys)
|
|
|
NM_000138.5(FBN1):c.3765_3767delinsCTGTAC (p.Asn1256delinsCysThr)
|
rs140596
|
|
NM_000138.5(FBN1):c.3766A>G (p.Asn1256Asp)
|
rs772890884
|
|
NM_000138.5(FBN1):c.3778G>T (p.Glu1260Ter)
|
rs1555398283
|
|
NM_000138.5(FBN1):c.3786G>T (p.Arg1262Ser)
|
rs1555398280
|
|
NM_000138.5(FBN1):c.3808A>T (p.Met1270Leu)
|
|
|
NM_000138.5(FBN1):c.380G>A (p.Gly127Asp)
|
rs1566935524
|
|
NM_000138.5(FBN1):c.3815del (p.Ser1272fs)
|
rs1555398272
|
|
NM_000138.5(FBN1):c.3821del (p.Asp1274fs)
|
|
|
NM_000138.5(FBN1):c.382A>G (p.Ser128Gly)
|
|
|
NM_000138.5(FBN1):c.3833G>C (p.Cys1278Ser)
|
|
|
NM_000138.5(FBN1):c.3834T>G (p.Cys1278Trp)
|
rs886039492
|
|
NM_000138.5(FBN1):c.3838+2T>C
|
|
|
NM_000138.5(FBN1):c.3839_3846del (p.Asp1280fs)
|
rs113603747
|
|
NM_000138.5(FBN1):c.3881G>T (p.Gly1294Val)
|
rs1060501064
|
|
NM_000138.5(FBN1):c.3902G>T (p.Gly1301Val)
|
rs1566908083
|
|
NM_000138.5(FBN1):c.3945dup (p.Gly1316fs)
|
rs1555398144
|
|
NM_000138.5(FBN1):c.3947del (p.Gly1316fs)
|
rs1555398143
|
|
NM_000138.5(FBN1):c.394G>C (p.Asp132His)
|
|
|
NM_000138.5(FBN1):c.3951A>G (p.Lys1317=)
|
|
|
NM_000138.5(FBN1):c.3958T>A (p.Cys1320Ser)
|
|
|
NM_000138.5(FBN1):c.3962C>T (p.Thr1321Ile)
|
rs750219182
|
|
NM_000138.5(FBN1):c.3963A>G (p.Thr1321=)
|
rs140648
|
|
NM_000138.5(FBN1):c.3975del (p.Glu1325fs)
|
|
|
NM_000138.5(FBN1):c.3G>T (p.Met1Ile)
|
rs886039072
|
|
NM_000138.5(FBN1):c.4040A>T (p.Lys1347Ile)
|
|
|
NM_000138.5(FBN1):c.4043G>A (p.Cys1348Tyr)
|
rs1555397720
|
|
NM_000138.5(FBN1):c.4050C>T (p.Cys1350=)
|
|
|
NM_000138.5(FBN1):c.4057G>T (p.Gly1353Trp)
|
rs187177496
|
|
NM_000138.5(FBN1):c.4082G>A (p.Cys1361Tyr)
|
rs1555397704
|
|
NM_000138.5(FBN1):c.408C>G (p.Cys136Trp)
|
rs1555405039
|
|
NM_000138.5(FBN1):c.4096G>A (p.Glu1366Lys)
|
rs763449629
|
|
NM_000138.5(FBN1):c.4096G>C (p.Glu1366Gln)
|
rs763449629
|
|
NM_000138.5(FBN1):c.4100G>A (p.Cys1367Tyr)
|
rs2141279869
|
|
NM_000138.5(FBN1):c.4122C>A (p.Cys1374Ter)
|
|
|
NM_000138.5(FBN1):c.412A>C (p.Lys138Gln)
|
rs886038937
|
|
NM_000138.5(FBN1):c.412A>T (p.Lys138Ter)
|
rs886038937
|
|
NM_000138.5(FBN1):c.4135_4141del (p.Asp1379fs)
|
rs886038970
|
|
NM_000138.5(FBN1):c.4164C>A (p.Arg1388=)
|
|
|
NM_000138.5(FBN1):c.4174A>G (p.Lys1392Glu)
|
rs756683929
|
|
NM_000138.5(FBN1):c.4185C>T (p.Tyr1395=)
|
rs2043401602
|
|
NM_000138.5(FBN1):c.4188del (p.Gly1397fs)
|
rs1555397652
|
|
NM_000138.5(FBN1):c.4204T>C (p.Cys1402Arg)
|
|
|
NM_000138.5(FBN1):c.4205G>A (p.Cys1402Tyr)
|
rs1555397646
|
|
NM_000138.5(FBN1):c.4206T>G (p.Cys1402Trp)
|
|
|
NM_000138.5(FBN1):c.4337-2A>G
|
rs794728216
|
|
NM_000138.5(FBN1):c.4337A>T (p.Asp1446Val)
|
rs397515806
|
|
NM_000138.5(FBN1):c.433T>C (p.Cys145Arg)
|
rs1555405031
|
|
NM_000138.5(FBN1):c.434G>A (p.Cys145Tyr)
|
rs878853682
|
|
NM_000138.5(FBN1):c.4366T>G (p.Cys1456Gly)
|
|
|
NM_000138.5(FBN1):c.4367G>A (p.Cys1456Tyr)
|
rs397515805
|
|
NM_000138.5(FBN1):c.4385A>C (p.His1462Pro)
|
|
|
NM_000138.5(FBN1):c.438dup (p.Gln147fs)
|
|
|
NM_000138.5(FBN1):c.439C>T (p.Gln147Ter)
|
rs886039036
|
|
NM_000138.5(FBN1):c.4412_4415del (p.Glu1471fs)
|
rs886038846
|
|
NM_000138.5(FBN1):c.4423G>C (p.Gly1475Arg)
|
|
|
NM_000138.5(FBN1):c.4432C>T (p.Leu1478=)
|
rs1555397400
|
|
NM_000138.5(FBN1):c.4447G>A (p.Gly1483Arg)
|
rs794728223
|
|
NM_000138.5(FBN1):c.4459+1del
|
|
|
NM_000138.5(FBN1):c.4459G>A (p.Asp1487Asn)
|
rs113693945
|
|
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.4471T>A (p.Cys1491Ser)
|
|
|
NM_000138.5(FBN1):c.448T>C (p.Cys150Arg)
|
rs1555404819
|
|
NM_000138.5(FBN1):c.4512C>T (p.Asn1504=)
|
|
|
NM_000138.5(FBN1):c.4515T>A (p.Thr1505=)
|
|
|
NM_000138.5(FBN1):c.4520G>T (p.Gly1507Val)
|
rs794728225
|
|
NM_000138.5(FBN1):c.4523G>T (p.Ser1508Ile)
|
rs1555397207
|
|
NM_000138.5(FBN1):c.4526A>G (p.Tyr1509Cys)
|
rs730880102
|
|
NM_000138.5(FBN1):c.4537T>G (p.Cys1513Gly)
|
|
|
NM_000138.5(FBN1):c.454del (p.Ser152fs)
|
|
|
NM_000138.5(FBN1):c.4562del (p.Pro1521fs)
|
rs886039035
|
|
NM_000138.5(FBN1):c.4567C>T (p.Arg1523Ter)
|
rs397515812
|
|
NM_000138.5(FBN1):c.4577G>A (p.Cys1526Tyr)
|
rs886039120
|
|
NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys)
|
rs111401431
|
|
NM_000138.5(FBN1):c.4589G>C (p.Arg1530Pro)
|
rs778710767
|
|
NM_000138.5(FBN1):c.4593T>C (p.Ser1531=)
|
rs985992262
|
|
NM_000138.5(FBN1):c.4601G>C (p.Cys1534Ser)
|
rs112559031
|
|
NM_000138.5(FBN1):c.4604A>G (p.Tyr1535Cys)
|
|
|
NM_000138.5(FBN1):c.4615C>T (p.Arg1539Ter)
|
rs111231312
|
|
NM_000138.5(FBN1):c.4617A>G (p.Arg1539=)
|
|
|
NM_000138.5(FBN1):c.4621C>T (p.Arg1541Ter)
|
rs794728228
|
|
NM_000138.5(FBN1):c.4680T>C (p.Ala1560=)
|
|
|
NM_000138.5(FBN1):c.4684T>C (p.Cys1562Arg)
|
rs193922207
|
|
NM_000138.5(FBN1):c.4694C>T (p.Ser1565Phe)
|
rs1555397156
|
|
NM_000138.5(FBN1):c.4704dup (p.Ala1569fs)
|
rs1555397154
|
|
NM_000138.5(FBN1):c.4708_4710del (p.Trp1570del)
|
|
|
NM_000138.5(FBN1):c.4721del (p.Cys1574fs)
|
rs1555397148
|
|
NM_000138.5(FBN1):c.472G>A (p.Gly158Arg)
|
rs1555404812
|
|
NM_000138.5(FBN1):c.4733del (p.Pro1578fs)
|
|
|
NM_000138.5(FBN1):c.4773A>C (p.Gly1591=)
|
|
|
NM_000138.5(FBN1):c.4786C>T (p.Arg1596Ter)
|
rs113871094
|
|
NM_000138.5(FBN1):c.4813del (p.Glu1605fs)
|
rs1555397016
|
|
NM_000138.5(FBN1):c.4816+1G>T
|
rs1555397014
|
|
NM_000138.5(FBN1):c.4817-1G>C
|
|
|
NM_000138.5(FBN1):c.4817-2A>G
|
rs1555397008
|
|
NM_000138.5(FBN1):c.4820T>C (p.Ile1607Thr)
|
|
|
NM_000138.5(FBN1):c.4864T>C (p.Cys1622Arg)
|
|
|
NM_000138.5(FBN1):c.4884T>A (p.Ser1628Arg)
|
|
|
NM_000138.5(FBN1):c.4888del (p.Gln1630fs)
|
rs1555397000
|
|
NM_000138.5(FBN1):c.4890G>A (p.Gln1630=)
|
rs111321375
|
|
NM_000138.5(FBN1):c.4905C>T (p.Thr1635=)
|
rs113115949
|
|
NM_000138.5(FBN1):c.4928C>A (p.Thr1643Lys)
|
|
|
NM_000138.5(FBN1):c.4930C>T (p.Arg1644Ter)
|
rs140630
|
|
NM_000138.5(FBN1):c.4935G>A (p.Val1645=)
|
rs886038897
|
|
NM_000138.5(FBN1):c.4937G>C (p.Cys1646Ser)
|
|
|
NM_000138.5(FBN1):c.493C>T (p.Arg165Ter)
|
rs113905529
|
|
NM_000138.5(FBN1):c.4941T>C (p.Asp1647=)
|
|
|
NM_000138.5(FBN1):c.4942+2T>G
|
|
|
NM_000138.5(FBN1):c.4951G>A (p.Glu1651Lys)
|
rs886039152
|
|
NM_000138.5(FBN1):c.4956del (p.Cys1652fs)
|
rs886038979
|
|
NM_000138.5(FBN1):c.496T>A (p.Cys166Ser)
|
rs363852
|
|
NM_000138.5(FBN1):c.4985C>A (p.Thr1662Lys)
|
rs886038924
|
|
NM_000138.5(FBN1):c.4998C>T (p.Thr1666=)
|
rs141925790
|
|
NM_000138.5(FBN1):c.4C>G (p.Arg2Gly)
|
rs1597652545
|
|
NM_000138.5(FBN1):c.5014T>C (p.Cys1672Arg)
|
|
|
NM_000138.5(FBN1):c.5015G>A (p.Cys1672Tyr)
|
rs140627
|
|
NM_000138.5(FBN1):c.5015G>C (p.Cys1672Ser)
|
rs140627
|
|
NM_000138.5(FBN1):c.5031C>T (p.Asp1677=)
|
rs1597545860
|
|
NM_000138.5(FBN1):c.5050G>A (p.Gly1684Arg)
|
rs1555396841
|
|
NM_000138.5(FBN1):c.5065+2dup
|
rs1555396835
|
|
NM_000138.5(FBN1):c.5073AAG[1] (p.Arg1692del)
|
rs1555396789
|
|
NM_000138.5(FBN1):c.5076A>G (p.Arg1692=)
|
rs2141266766
|
|
NM_000138.5(FBN1):c.5155T>C (p.Cys1719Arg)
|
rs886038838
|
|
NM_000138.5(FBN1):c.5203dup (p.Gln1735fs)
|
rs1555396760
|
|
NM_000138.5(FBN1):c.5212A>C (p.Ile1738Leu)
|
|
|
NM_000138.5(FBN1):c.5224+4A>C
|
|
|
NM_000138.5(FBN1):c.5233G>A (p.Ala1745Thr)
|
|
|
NM_000138.5(FBN1):c.526C>T (p.Gln176Ter)
|
rs886038766
|
|
NM_000138.5(FBN1):c.5284G>A (p.Gly1762Ser)
|
rs387906623
|
|
NM_000138.5(FBN1):c.5288T>A (p.Leu1763Ter)
|
|
|
NM_000138.5(FBN1):c.5301T>C (p.Ile1767=)
|
rs886038796
|
|
NM_000138.5(FBN1):c.5339G>T (p.Gly1780Val)
|
rs2141260428
|
|
NM_000138.5(FBN1):c.5345G>A (p.Cys1782Tyr)
|
rs1555396429
|
|
NM_000138.5(FBN1):c.5368C>T (p.Arg1790Ter)
|
rs113249837
|
|
NM_000138.5(FBN1):c.5371T>A (p.Cys1791Ser)
|
|
|
NM_000138.5(FBN1):c.5371T>C (p.Cys1791Arg)
|
rs1555396427
|
|
NM_000138.5(FBN1):c.5372G>A (p.Cys1791Tyr)
|
rs886038848
|
|
NM_000138.5(FBN1):c.5387_5388delinsTT (p.Gly1796Val)
|
|
|
NM_000138.5(FBN1):c.5431G>A (p.Glu1811Lys)
|
rs761857514
|
|
NM_000138.5(FBN1):c.5437C>T (p.Gln1813Ter)
|
rs397515821
|
|
NM_000138.5(FBN1):c.5452T>C (p.Cys1818Arg)
|
|
|
NM_000138.5(FBN1):c.5532A>G (p.Thr1844=)
|
|
|
NM_000138.5(FBN1):c.5536del (p.Gln1846fs)
|
rs886039167
|
|
NM_000138.5(FBN1):c.5538G>A (p.Gln1846=)
|
|
|
NM_000138.5(FBN1):c.5542_5545+11del
|
|
|
NM_000138.5(FBN1):c.5546-3C>G
|
|
|
NM_000138.5(FBN1):c.557G>A (p.Cys186Tyr)
|
|
|
NM_000138.5(FBN1):c.558T>A (p.Cys186Ter)
|
rs1555401699
|
|
NM_000138.5(FBN1):c.5603C>G (p.Thr1868Arg)
|
rs145082616
|
|
NM_000138.5(FBN1):c.5619T>G (p.Tyr1873Ter)
|
rs886038772
|
|
NM_000138.5(FBN1):c.5626T>C (p.Cys1876Arg)
|
rs1555395980
|
|
NM_000138.5(FBN1):c.5635G>C (p.Gly1879Arg)
|
rs1555395979
|
|
NM_000138.5(FBN1):c.5657_5665delinsGC (p.Gln1886fs)
|
|
|
NM_000138.5(FBN1):c.5672-3T>C
|
rs193922217
|
|
NM_000138.5(FBN1):c.5680G>A (p.Glu1894Lys)
|
rs1057521101
|
|
NM_000138.5(FBN1):c.5683T>C (p.Cys1895Arg)
|
rs878853686
|
|
NM_000138.5(FBN1):c.5688A>G (p.Glu1896=)
|
|
|
NM_000138.5(FBN1):c.5698T>A (p.Cys1900Ser)
|
rs1555395840
|
|
NM_000138.5(FBN1):c.5700T>G (p.Cys1900Trp)
|
|
|
NM_000138.5(FBN1):c.5720del (p.Asn1907fs)
|
rs886038959
|
|
NM_000138.5(FBN1):c.5725A>C (p.Ile1909Leu)
|
rs886038785
|
|
NM_000138.5(FBN1):c.5726T>C (p.Ile1909Thr)
|
rs794728333
|
|
NM_000138.5(FBN1):c.572G>T (p.Ser191Ile)
|
|
|
NM_000138.5(FBN1):c.5741G>A (p.Cys1914Tyr)
|
|
|
NM_000138.5(FBN1):c.5756G>C (p.Gly1919Ala)
|
rs2141250311
|
|
NM_000138.5(FBN1):c.5788G>A (p.Asp1930Asn)
|
rs1555395820
|
|
NM_000138.5(FBN1):c.5789-2A>G
|
rs886038790
|
|
NM_000138.5(FBN1):c.5791G>A (p.Val1931Ile)
|
rs1555395768
|
|
NM_000138.5(FBN1):c.5825G>C (p.Cys1942Ser)
|
rs794728241
|
|
NM_000138.5(FBN1):c.5826C>A (p.Cys1942Ter)
|
rs363806
|
|
NM_000138.5(FBN1):c.5838A>G (p.Gln1946=)
|
rs759049300
|
|
NM_000138.5(FBN1):c.5855G>T (p.Gly1952Val)
|
rs2141249218
|
|
NM_000138.5(FBN1):c.5877T>A (p.Asn1959Lys)
|
rs1555395748
|
|
NM_000138.5(FBN1):c.5885A>G (p.Tyr1962Cys)
|
rs1346043320
|
|
NM_000138.5(FBN1):c.5902G>A (p.Gly1968Arg)
|
rs768997549
|
|
NM_000138.5(FBN1):c.5911T>C (p.Cys1971Arg)
|
rs1555395745
|
|
NM_000138.5(FBN1):c.5912G>A (p.Cys1971Tyr)
|
rs111239111
|
|
NM_000138.5(FBN1):c.5912G>T (p.Cys1971Phe)
|
|
|
NM_000138.5(FBN1):c.5918-2A>G
|
rs869025418
|
|
NM_000138.5(FBN1):c.5926G>A (p.Glu1976Lys)
|
|
|
NM_000138.5(FBN1):c.5927A>C (p.Glu1976Ala)
|
rs1555395665
|
|
NM_000138.5(FBN1):c.5927A>G (p.Glu1976Gly)
|
rs1555395665
|
|
NM_000138.5(FBN1):c.5951G>A (p.Cys1984Tyr)
|
rs1555395658
|
|
NM_000138.5(FBN1):c.5959G>C (p.Gly1987Arg)
|
rs727504642
|
|
NM_000138.5(FBN1):c.595del (p.Leu199fs)
|
|
|
NM_000138.5(FBN1):c.5966G>T (p.Cys1989Phe)
|
rs1597531796
|
|
NM_000138.5(FBN1):c.5967T>G (p.Cys1989Trp)
|
rs1555395652
|
|
NM_000138.5(FBN1):c.597C>T (p.Leu199=)
|
|
|
NM_000138.5(FBN1):c.5981G>C (p.Gly1994Ala)
|
rs1484900122
|
|
NM_000138.5(FBN1):c.5988C>A (p.Tyr1996Ter)
|
|
|
NM_000138.5(FBN1):c.5999G>A (p.Cys2000Tyr)
|
rs1555395645
|
|
NM_000138.5(FBN1):c.6032G>A (p.Cys2011Tyr)
|
rs886038967
|
|
NM_000138.5(FBN1):c.6037+1G>A
|
rs1064796636
|
|
NM_000138.5(FBN1):c.6046G>A (p.Glu2016Lys)
|
rs2141245531
|
|
NM_000138.5(FBN1):c.6049T>G (p.Cys2017Gly)
|
|
|
NM_000138.5(FBN1):c.6053del (p.Val2018fs)
|
|
|
NM_000138.5(FBN1):c.6068T>C (p.Ile2023Thr)
|
rs363803
|
|
NM_000138.5(FBN1):c.6080G>T (p.Gly2027Val)
|
rs886038958
|
|
NM_000138.5(FBN1):c.6097G>A (p.Glu2033Lys)
|
|
|
NM_000138.5(FBN1):c.6113G>T (p.Cys2038Phe)
|
|
|
NM_000138.5(FBN1):c.6119G>T (p.Cys2040Phe)
|
|
|
NM_000138.5(FBN1):c.6120T>G (p.Cys2040Trp)
|
|
|
NM_000138.5(FBN1):c.6146_6150del (p.Ser2049fs)
|
rs1555395461
|
|
NM_000138.5(FBN1):c.6169C>T (p.Arg2057Ter)
|
rs763091520
|
|
NM_000138.5(FBN1):c.6170G>C (p.Arg2057Pro)
|
|
|
NM_000138.5(FBN1):c.6175A>C (p.Ser2059Arg)
|
|
|
NM_000138.5(FBN1):c.6185A>C (p.Tyr2062Ser)
|
rs1555395266
|
|
NM_000138.5(FBN1):c.6185A>G (p.Tyr2062Cys)
|
rs1555395266
|
|
NM_000138.5(FBN1):c.6189G>C (p.Ala2063=)
|
|
|
NM_000138.5(FBN1):c.6207G>A (p.Lys2069=)
|
rs1021415072
|
|
NM_000138.5(FBN1):c.6209G>A (p.Cys2070Tyr)
|
rs1060501044
|
|
NM_000138.5(FBN1):c.6219C>T (p.Pro2073=)
|
rs771786623
|
|
NM_000138.5(FBN1):c.6247T>C (p.Cys2083Arg)
|
|
|
NM_000138.5(FBN1):c.6268G>T (p.Glu2090Ter)
|
rs1304643689
|
|
NM_000138.5(FBN1):c.6274T>A (p.Trp2092Arg)
|
|
|
NM_000138.5(FBN1):c.6303G>A (p.Thr2101=)
|
rs2043084739
|
|
NM_000138.5(FBN1):c.6313+3A>T
|
|
|
NM_000138.5(FBN1):c.6313G>T (p.Glu2105Ter)
|
rs794728247
|
|
NM_000138.5(FBN1):c.6314-1G>A
|
|
|
NM_000138.5(FBN1):c.6322C>G (p.Arg2108Gly)
|
|
|
NM_000138.5(FBN1):c.6331del (p.Cys2111fs)
|
|
|
NM_000138.5(FBN1):c.6347G>A (p.Gly2116Glu)
|
rs1555395226
|
|
NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys)
|
rs794728334
|
|
NM_000138.5(FBN1):c.640G>A (p.Gly214Ser)
|
rs794728162
|
|
NM_000138.5(FBN1):c.6410G>C (p.Cys2137Ser)
|
rs1555395206
|
|
NM_000138.5(FBN1):c.6425G>A (p.Cys2142Tyr)
|
rs794728335
|
|
NM_000138.5(FBN1):c.6430A>C (p.Asn2144His)
|
rs886038943
|
|
NM_000138.5(FBN1):c.6434C>A (p.Thr2145Lys)
|
|
|
NM_000138.5(FBN1):c.643C>T (p.Arg215Ter)
|
rs111687884
|
|
NM_000138.5(FBN1):c.6446A>G (p.Tyr2149Cys)
|
rs113080385
|
|
NM_000138.5(FBN1):c.6449G>A (p.Arg2150His)
|
|
|
NM_000138.5(FBN1):c.6454G>T (p.Glu2152Ter)
|
|
|
NM_000138.5(FBN1):c.6455A>G (p.Glu2152Gly)
|
|
|
NM_000138.5(FBN1):c.6466G>T (p.Gly2156Cys)
|
|
|
NM_000138.5(FBN1):c.6478G>A (p.Ala2160Thr)
|
rs2043077484
|
|
NM_000138.5(FBN1):c.6492T>A (p.Cys2164Ter)
|
rs886038957
|
|
NM_000138.5(FBN1):c.6496G>A (p.Asp2166Asn)
|
rs794728252
|
|
NM_000138.5(FBN1):c.6497-2A>G
|
|
|
NM_000138.5(FBN1):c.6505G>C (p.Glu2169Gln)
|
rs1013747861
|
|
NM_000138.5(FBN1):c.650G>A (p.Trp217Ter)
|
rs1555401686
|
|
NM_000138.5(FBN1):c.6554T>C (p.Ile2185Thr)
|
rs910656654
|
|
NM_000138.5(FBN1):c.6583G>A (p.Gly2195Arg)
|
rs886038976
|
|
NM_000138.5(FBN1):c.6590del (p.Glu2197fs)
|
|
|
NM_000138.5(FBN1):c.6591G>T (p.Glu2197Asp)
|
rs2141237031
|
|
NM_000138.5(FBN1):c.659C>T (p.Pro220Leu)
|
rs1555401681
|
|
NM_000138.5(FBN1):c.6609_6610del (p.Thr2203_Cys2204insTer)
|
rs1555395002
|
|
NM_000138.5(FBN1):c.6611G>A (p.Cys2204Tyr)
|
rs886039158
|
|
NM_000138.5(FBN1):c.6628T>C (p.Cys2210Arg)
|
rs794728253
|
|
NM_000138.5(FBN1):c.6629G>A (p.Cys2210Tyr)
|
rs2141235242
|
|
NM_000138.5(FBN1):c.6646_6650del (p.Leu2216fs)
|
rs1555394927
|
|
NM_000138.5(FBN1):c.6658C>T (p.Arg2220Ter)
|
rs113001196
|
|
NM_000138.5(FBN1):c.6670A>C (p.Thr2224Pro)
|
|
|
NM_000138.5(FBN1):c.6675del (p.Thr2224_Tyr2225insTer)
|
|
|
NM_000138.5(FBN1):c.6681A>T (p.Ser2227=)
|
rs363824
|
|
NM_000138.5(FBN1):c.6682T>G (p.Tyr2228Asp)
|
|
|
NM_000138.5(FBN1):c.6682dup (p.Tyr2228fs)
|
rs886044547
|
|
NM_000138.5(FBN1):c.6689G>A (p.Cys2230Tyr)
|
rs1555394904
|
|
NM_000138.5(FBN1):c.6694T>C (p.Cys2232Arg)
|
rs869025411
|
|
NM_000138.5(FBN1):c.6697C>T (p.Pro2233Ser)
|
rs794728255
|
|
NM_000138.5(FBN1):c.6707A>G (p.Tyr2236Cys)
|
rs368439899
|
|
NM_000138.5(FBN1):c.6733T>C (p.Cys2245Arg)
|
|
|
NM_000138.5(FBN1):c.6735C>T (p.Cys2245=)
|
|
|
NM_000138.5(FBN1):c.6740-1G>A
|
rs1555394781
|
|
NM_000138.5(FBN1):c.6751T>A (p.Cys2251Ser)
|
rs112836174
|
|
NM_000138.5(FBN1):c.6773G>A (p.Cys2258Tyr)
|
rs886039047
|
|
NM_000138.5(FBN1):c.6806T>G (p.Ile2269Ser)
|
|
|
NM_000138.5(FBN1):c.6809G>A (p.Gly2270Asp)
|
rs1566894274
|
|
NM_000138.5(FBN1):c.6813A>C (p.Thr2271=)
|
|
|
NM_000138.5(FBN1):c.6821G>C (p.Cys2274Ser)
|
|
|
NM_000138.5(FBN1):c.6822C>G (p.Cys2274Trp)
|
|
|
NM_000138.5(FBN1):c.6832C>T (p.Pro2278Ser)
|
rs363835
|
|
NM_000138.5(FBN1):c.6866G>T (p.Cys2289Phe)
|
rs1566894230
|
|
NM_000138.5(FBN1):c.6872-14A>G
|
rs1064793119
|
|
NM_000138.5(FBN1):c.6872-4A>G
|
rs1207038649
|
|
NM_000138.5(FBN1):c.6884G>A (p.Cys2295Tyr)
|
rs886038949
|
|
NM_000138.5(FBN1):c.6885T>C (p.Cys2295=)
|
|
|
NM_000138.5(FBN1):c.6904T>A (p.Cys2302Ser)
|
rs886039092
|
|
NM_000138.5(FBN1):c.6963del (p.Phe2322fs)
|
rs1060501051
|
|
NM_000138.5(FBN1):c.6987C>T (p.Asp2329=)
|
rs363831
|
|
NM_000138.5(FBN1):c.6991T>A (p.Cys2331Ser)
|
rs886038894
|
|
NM_000138.5(FBN1):c.6997+4A>G
|
rs727503055
|
|
NM_000138.5(FBN1):c.7006G>T (p.Glu2336Ter)
|
rs1199524458
|
|
NM_000138.5(FBN1):c.7039A>G (p.Met2347Val)
|
rs1284375434
|
|
NM_000138.5(FBN1):c.7039_7040del (p.Met2347fs)
|
rs794728319
|
|
NM_000138.5(FBN1):c.7050C>T (p.Ile2350=)
|
rs772287755
|
|
NM_000138.5(FBN1):c.7064G>A (p.Arg2355Lys)
|
rs376372763
|
|
NM_000138.5(FBN1):c.7067A>G (p.Asn2356Ser)
|
rs886038968
|
|
NM_000138.5(FBN1):c.7071C>A (p.Pro2357=)
|
|
|
NM_000138.5(FBN1):c.7092_7093del (p.Cys2364fs)
|
rs886038955
|
|
NM_000138.5(FBN1):c.7104G>A (p.Gly2368=)
|
|
|
NM_000138.5(FBN1):c.7104_7105delinsTT (p.Arg2369Ter)
|
|
|
NM_000138.5(FBN1):c.7113G>T (p.Trp2371Cys)
|
rs886039063
|
|
NM_000138.5(FBN1):c.7115G>T (p.Gly2372Val)
|
rs112369155
|
|
NM_000138.5(FBN1):c.7120del (p.His2374fs)
|
rs1555394566
|
|
NM_000138.5(FBN1):c.7141C>T (p.Gln2381Ter)
|
rs869025414
|
|
NM_000138.5(FBN1):c.7161del (p.Lys2388fs)
|
|
|
NM_000138.5(FBN1):c.716T>C (p.Ile239Thr)
|
|
|
NM_000138.5(FBN1):c.7180C>T (p.Arg2394Ter)
|
rs397515848
|
|
NM_000138.5(FBN1):c.7184G>T (p.Gly2395Val)
|
rs397515849
|
|
NM_000138.5(FBN1):c.718C>T (p.Arg240Cys)
|
rs137854480
|
|
NM_000138.5(FBN1):c.719G>A (p.Arg240His)
|
rs768744583
|
|
NM_000138.5(FBN1):c.719G>T (p.Arg240Leu)
|
|
|
NM_000138.5(FBN1):c.7204+3A>G
|
rs1057518076
|
|
NM_000138.5(FBN1):c.7227T>A (p.Ile2409=)
|
|
|
NM_000138.5(FBN1):c.7240C>T (p.Arg2414Ter)
|
rs112550005
|
|
NM_000138.5(FBN1):c.7267G>A (p.Gly2423Arg)
|
|
|
NM_000138.5(FBN1):c.7278T>C (p.His2426=)
|
|
|
NM_000138.5(FBN1):c.732T>A (p.Cys244Ter)
|
rs878853689
|
|
NM_000138.5(FBN1):c.7330+1G>A
|
rs1555394433
|
|
NM_000138.5(FBN1):c.7330+3_7330+6del
|
rs1597516325
|
|
NM_000138.5(FBN1):c.7336A>G (p.Asn2446Asp)
|
|
|
NM_000138.5(FBN1):c.7359A>G (p.Lys2453=)
|
|
|
NM_000138.5(FBN1):c.7363T>C (p.Cys2455Arg)
|
rs886038930
|
|
NM_000138.5(FBN1):c.7366A>C (p.Asn2456His)
|
rs2141226433
|
|
NM_000138.5(FBN1):c.7382A>G (p.Asn2461Ser)
|
rs1555394405
|
|
NM_000138.5(FBN1):c.7387G>T (p.Glu2463Ter)
|
rs1566892735
|
|
NM_000138.5(FBN1):c.7397A>G (p.Tyr2466Cys)
|
rs1555394403
|
|
NM_000138.5(FBN1):c.7402T>C (p.Cys2468Arg)
|
rs1085308004
|
|
NM_000138.5(FBN1):c.7403G>A (p.Cys2468Tyr)
|
rs1555394400
|
|
NM_000138.5(FBN1):c.7406C>A (p.Ser2469Ter)
|
|
|
NM_000138.5(FBN1):c.7407A>G (p.Ser2469=)
|
rs193922232
|
|
NM_000138.5(FBN1):c.7408T>C (p.Cys2470Arg)
|
rs1555394399
|
|
NM_000138.5(FBN1):c.7412del (p.Pro2471fs)
|
rs1555394396
|
|
NM_000138.5(FBN1):c.7448G>A (p.Cys2483Tyr)
|
rs1555394390
|
|
NM_000138.5(FBN1):c.7460A>G (p.Asp2487Gly)
|
|
|
NM_000138.5(FBN1):c.7472_7475del (p.Thr2491fs)
|
|
|
NM_000138.5(FBN1):c.7476G>A (p.Lys2492=)
|
rs2141222576
|
|
NM_000138.5(FBN1):c.7498T>C (p.Cys2500Arg)
|
rs363810
|
|
NM_000138.5(FBN1):c.7507A>C (p.Thr2503Pro)
|
|
|
NM_000138.5(FBN1):c.7524A>T (p.Thr2508=)
|
rs201992942
|
|
NM_000138.5(FBN1):c.7525T>G (p.Cys2509Gly)
|
rs1060501055
|
|
NM_000138.5(FBN1):c.7530A>G (p.Lys2510=)
|
rs754992689
|
|
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.7545dup (p.Thr2516fs)
|
|
|
NM_000138.5(FBN1):c.7549C>T (p.Gln2517Ter)
|
rs1566891808
|
|
NM_000138.5(FBN1):c.7577A>G (p.Asn2526Ser)
|
rs794728336
|
|
NM_000138.5(FBN1):c.7606G>A (p.Gly2536Arg)
|
rs397515854
|
|
NM_000138.5(FBN1):c.7637G>A (p.Gly2546Glu)
|
|
|
NM_000138.5(FBN1):c.7637G>T (p.Gly2546Val)
|
|
|
NM_000138.5(FBN1):c.7649G>C (p.Cys2550Ser)
|
rs1555394196
|
|
NM_000138.5(FBN1):c.7656C>A (p.Cys2552Ter)
|
rs1555394195
|
|
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.7684G>T (p.Gly2562Cys)
|
|
|
NM_000138.5(FBN1):c.7699+1G>A
|
rs1555394189
|
|
NM_000138.5(FBN1):c.7706A>T (p.Asp2569Val)
|
|
|
NM_000138.5(FBN1):c.7707_7709del (p.Asp2569del)
|
|
|
NM_000138.5(FBN1):c.7708G>A (p.Glu2570Lys)
|
rs886038786
|
|
NM_000138.5(FBN1):c.7726C>T (p.Arg2576Cys)
|
rs147195031
|
|
NM_000138.5(FBN1):c.7729dup (p.Cys2577fs)
|
rs1555394151
|
|
NM_000138.5(FBN1):c.7737T>C (p.His2579=)
|
|
|
NM_000138.5(FBN1):c.7741T>A (p.Cys2581Ser)
|
|
|
NM_000138.5(FBN1):c.7742G>A (p.Cys2581Tyr)
|
rs1555394149
|
|
NM_000138.5(FBN1):c.7742G>T (p.Cys2581Phe)
|
rs1555394149
|
|
NM_000138.5(FBN1):c.7763A>G (p.Tyr2588Cys)
|
rs1566891436
|
|
NM_000138.5(FBN1):c.7775G>A (p.Cys2592Tyr)
|
rs112118237
|
|
NM_000138.5(FBN1):c.7780dup (p.Gln2594fs)
|
rs1555394146
|
|
NM_000138.5(FBN1):c.7784G>A (p.Gly2595Asp)
|
rs397515857
|
|
NM_000138.5(FBN1):c.7784G>T (p.Gly2595Val)
|
rs397515857
|
|
NM_000138.5(FBN1):c.7788C>A (p.Tyr2596Ter)
|
rs1555394142
|
|
NM_000138.5(FBN1):c.7792C>T (p.Gln2598Ter)
|
rs886038975
|
|
NM_000138.5(FBN1):c.7806G>A (p.Trp2602Ter)
|
rs193922236
|
|
NM_000138.5(FBN1):c.7820-3C>A
|
rs193922237
|
|
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.782A>G (p.Asn261Ser)
|
rs1555401459
|
|
NM_000138.5(FBN1):c.7832G>A (p.Cys2611Tyr)
|
rs794728337
|
|
NM_000138.5(FBN1):c.7840G>A (p.Ala2614Thr)
|
rs1280320763
|
|
NM_000138.5(FBN1):c.7842T>A (p.Ala2614=)
|
rs764496589
|
|
NM_000138.5(FBN1):c.7864T>G (p.Cys2622Gly)
|
|
|
NM_000138.5(FBN1):c.7865G>A (p.Cys2622Tyr)
|
rs1555393880
|
|
NM_000138.5(FBN1):c.7876C>G (p.Leu2626Val)
|
rs2042898824
|
|
NM_000138.5(FBN1):c.7880G>A (p.Gly2627Glu)
|
rs1555393875
|
|
NM_000138.5(FBN1):c.7880G>C (p.Gly2627Ala)
|
rs1555393875
|
|
NM_000138.5(FBN1):c.7881G>A (p.Gly2627=)
|
rs397515858
|
|
NM_000138.5(FBN1):c.7886A>G (p.Tyr2629Cys)
|
|
|
NM_000138.5(FBN1):c.7897T>C (p.Cys2633Arg)
|
rs1555393871
|
|
NM_000138.5(FBN1):c.7902C>G (p.Pro2634=)
|
|
|
NM_000138.5(FBN1):c.7905C>T (p.Ala2635=)
|
|
|
NM_000138.5(FBN1):c.7912C>T (p.Gln2638Ter)
|
rs2141214889
|
|
NM_000138.5(FBN1):c.7939C>T (p.Gln2647Ter)
|
rs886038870
|
|
NM_000138.5(FBN1):c.7951G>C (p.Glu2651Gln)
|
rs1555393859
|
|
NM_000138.5(FBN1):c.7977C>A (p.Cys2659Ter)
|
rs1555393844
|
|
NM_000138.5(FBN1):c.7C>T (p.Arg3Ter)
|
rs886038797
|
|
NM_000138.5(FBN1):c.8003G>A (p.Gly2668Asp)
|
rs1555393837
|
|
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.8014T>G (p.Cys2672Gly)
|
rs1555393833
|
|
NM_000138.5(FBN1):c.8037C>T (p.Phe2679=)
|
|
|
NM_000138.5(FBN1):c.8038C>T (p.Arg2680Cys)
|
rs794728283
|
|
NM_000138.5(FBN1):c.8051_8051+1delinsT
|
rs1555393823
|
|
NM_000138.5(FBN1):c.8059G>T (p.Val2687Phe)
|
rs1464168530
|
|
NM_000138.5(FBN1):c.8059_8060del (p.Val2687fs)
|
rs2042873946
|
|
NM_000138.5(FBN1):c.8080C>G (p.Arg2694Gly)
|
rs200309328
|
|
NM_000138.5(FBN1):c.8080C>T (p.Arg2694Ter)
|
rs200309328
|
|
NM_000138.5(FBN1):c.808G>C (p.Glu270Gln)
|
rs2043994842
|
|
NM_000138.5(FBN1):c.8091A>C (p.Pro2697=)
|
|
|
NM_000138.5(FBN1):c.8098C>T (p.Pro2700Ser)
|
|
|
NM_000138.5(FBN1):c.8099C>T (p.Pro2700Leu)
|
rs886038782
|
|
NM_000138.5(FBN1):c.8104_8105del (p.Ser2702fs)
|
|
|
NM_000138.5(FBN1):c.8108G>T (p.Gly2703Val)
|
rs794728284
|
|
NM_000138.5(FBN1):c.812G>A (p.Cys271Tyr)
|
|
|
NM_000138.5(FBN1):c.813C>G (p.Cys271Trp)
|
rs765692335
|
|
NM_000138.5(FBN1):c.8148C>A (p.Tyr2716Ter)
|
|
|
NM_000138.5(FBN1):c.8148C>G (p.Tyr2716Ter)
|
rs112642323
|
|
NM_000138.5(FBN1):c.8148C>T (p.Tyr2716=)
|
rs112642323
|
|
NM_000138.5(FBN1):c.8149G>T (p.Glu2717Ter)
|
rs187553035
|
|
NM_000138.5(FBN1):c.8169C>T (p.Tyr2723=)
|
rs768231402
|
|
NM_000138.5(FBN1):c.8185A>C (p.Lys2729Gln)
|
rs370096856
|
|
NM_000138.5(FBN1):c.8206dup (p.Thr2736fs)
|
rs1555393647
|
|
NM_000138.5(FBN1):c.8232G>C (p.Gln2744His)
|
rs376119827
|
|
NM_000138.5(FBN1):c.8241A>G (p.Thr2747=)
|
|
|
NM_000138.5(FBN1):c.8256T>C (p.Ser2752=)
|
rs2141210112
|
|
NM_000138.5(FBN1):c.8313C>T (p.Val2771=)
|
|
|
NM_000138.5(FBN1):c.8326C>G (p.Arg2776Gly)
|
rs137854466
|
|
NM_000138.5(FBN1):c.8368C>T (p.His2790Tyr)
|
|
|
NM_000138.5(FBN1):c.8405dup (p.Phe2803fs)
|
rs1555393539
|
|
NM_000138.5(FBN1):c.841_842insT (p.Glu281fs)
|
rs886039034
|
|
NM_000138.5(FBN1):c.8431G>T (p.Gly2811Trp)
|
|
|
NM_000138.5(FBN1):c.843A>T (p.Glu281Asp)
|
rs772218768
|
|
NM_000138.5(FBN1):c.8447A>G (p.His2816Arg)
|
rs1555393532
|
|
NM_000138.5(FBN1):c.8480A>C (p.Tyr2827Ser)
|
rs794728287
|
|
NM_000138.5(FBN1):c.8488C>T (p.Gln2830Ter)
|
rs886038795
|
|
NM_000138.5(FBN1):c.8496T>C (p.Ser2832=)
|
rs1216871823
|
|
NM_000138.5(FBN1):c.8521G>T (p.Glu2841Ter)
|
rs587782948
|
|
NM_000138.5(FBN1):c.8525_8529del (p.Leu2842fs)
|
rs1064794130
|
|
NM_000138.5(FBN1):c.8532A>G (p.Gln2844=)
|
|
|
NM_000138.5(FBN1):c.8547T>A (p.Tyr2849Ter)
|
|
|
NM_000138.5(FBN1):c.8603T>A (p.Val2868Asp)
|
rs1555393485
|
|
NM_000138.5(FBN1):c.8607del (p.Leu2869fs)
|
|
|
NM_000138.5(FBN1):c.88G>T (p.Glu30Ter)
|
|
|
NM_000138.5(FBN1):c.923_926del (p.Val308fs)
|
|
|
NM_000138.5(FBN1):c.937T>C (p.Cys313Arg)
|
rs2141343372
|
|
NM_000138.5(FBN1):c.948C>G (p.Pro316=)
|
|
|
NM_000138.5(FBN1):c.963del (p.Ser322fs)
|
|
|
NM_000138.5(FBN1):c.969delinsCC (p.Asp324fs)
|
|
|