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|
0.00381
|
NM_000138.5(FBN1):c.306C>T (p.Cys102=)
|
rs25388
|
0.00372
|
NM_000138.5(FBN1):c.*1298C>G
|
rs143446014
|
0.00360
|
NM_000138.5(FBN1):c.1961-112C>T
|
rs77454691
|
0.00359
|
NM_000138.5(FBN1):c.3082+8del
|
rs193922196
|
0.00359
|
NM_000138.5(FBN1):c.1589-328G>A
|
rs571122637
|
0.00350
|
NM_000138.5(FBN1):c.4337-106A>G
|
rs138315266
|
0.00347
|
NM_000138.5(FBN1):c.862+297_862+298del
|
rs559232133
|
0.00340
|
NM_000138.5(FBN1):c.2678-15C>T
|
rs181681840
|
0.00324
|
NM_000138.5(FBN1):c.1715-49G>A
|
rs146912376
|
0.00320
|
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.7454-162G>A
|
rs185133826
|
0.00295
|
NM_000138.5(FBN1):c.7497A>G (p.Leu2499=)
|
rs148516442
|
0.00268
|
NM_000138.5(FBN1):c.*2524A>G
|
rs75372203
|
0.00254
|
NM_000138.5(FBN1):c.2729-131C>T
|
rs191331497
|
0.00218
|
NM_000138.5(FBN1):c.8051+448T>A
|
rs182745665
|
0.00217
|
NM_000138.5(FBN1):c.1469-36A>C
|
rs72739819
|
0.00211
|
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His)
|
rs137854475
|
0.00168
|
NM_000138.5(FBN1):c.2420-8T>C
|
rs140582
|
0.00163
|
NM_000138.5(FBN1):c.248-44G>A
|
rs186322296
|
0.00162
|
NM_000138.5(FBN1):c.*1252A>G
|
rs566419089
|
0.00150
|
NM_000138.5(FBN1):c.3069G>A (p.Lys1023=)
|
rs199789628
|
0.00148
|
NM_000138.5(FBN1):c.8502T>C (p.Thr2834=)
|
rs363847
|
0.00148
|
NM_000138.5(FBN1):c.3463+3A>G
|
rs80344206
|
0.00128
|
NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly)
|
rs61730054
|
0.00113
|
NM_000138.5(FBN1):c.6681A>C (p.Ser2227=)
|
rs363824
|
0.00109
|
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr)
|
rs112287730
|
0.00107
|
NM_000138.5(FBN1):c.*2024A>G
|
rs558488257
|
0.00103
|
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.6998-33del
|
rs563973570
|
0.00075
|
NM_000138.5(FBN1):c.*2091G>A
|
rs575922741
|
0.00073
|
NM_000138.5(FBN1):c.2934C>G (p.Asp978Glu)
|
rs138438849
|
0.00070
|
NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp)
|
rs61746008
|
0.00070
|
NM_000138.5(FBN1):c.3077T>C (p.Phe1026Ser)
|
rs200381100
|
0.00067
|
NM_000138.5(FBN1):c.*1341C>T
|
rs766719764
|
0.00061
|
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.7346A>G (p.Asn2449Ser)
|
rs146166400
|
0.00049
|
NM_000138.5(FBN1):c.5296+14G>A
|
rs140650
|
0.00045
|
NM_000138.5(FBN1):c.7098C>T (p.Asp2366=)
|
rs1005074
|
0.00044
|
NM_000138.5(FBN1):c.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.5788+10C>A
|
rs371560107
|
0.00032
|
NM_000138.5(FBN1):c.8363C>T (p.Thr2788Met)
|
rs143007898
|
0.00031
|
NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile)
|
rs183306990
|
0.00030
|
NM_000138.5(FBN1):c.2175T>C (p.Asn725=)
|
rs140606
|
0.00029
|
NM_000138.5(FBN1):c.3058A>G (p.Thr1020Ala)
|
rs111801777
|
0.00029
|
NM_000138.5(FBN1):c.4750G>A (p.Glu1584Lys)
|
rs148888513
|
0.00029
|
NM_000138.5(FBN1):c.7072G>A (p.Val2358Ile)
|
rs140537304
|
0.00028
|
NM_000138.5(FBN1):c.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.6872-956T>C
|
rs766567890
|
0.00022
|
NM_000138.5(FBN1):c.6705A>C (p.Gly2235=)
|
rs2229326
|
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.3514G>A (p.Val1172Met)
|
rs200125037
|
0.00017
|
NM_000138.5(FBN1):c.6342A>C (p.Gly2114=)
|
rs374705586
|
0.00017
|
NM_000138.5(FBN1):c.3454G>A (p.Ala1152Thr)
|
rs140890215
|
0.00016
|
NM_000138.5(FBN1):c.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.863-3C>T
|
rs955955089
|
0.00015
|
NM_000138.5(FBN1):c.1571C>T (p.Thr524Met)
|
rs370575495
|
0.00014
|
NM_000138.5(FBN1):c.3936C>T (p.Ser1312=)
|
rs779913610
|
0.00014
|
NM_000138.5(FBN1):c.6288C>T (p.Cys2096=)
|
rs144822241
|
0.00014
|
NM_000138.5(FBN1):c.736+9G>A
|
rs368241741
|
0.00014
|
NM_000138.5(FBN1):c.7455T>G (p.Asp2485Glu)
|
rs377272529
|
0.00014
|
NM_000138.5(FBN1):c.7661G>A (p.Arg2554Gln)
|
rs199522781
|
0.00014
|
NM_000138.5(FBN1):c.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.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.3964+12C>T
|
rs371986991
|
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.1345G>A (p.Val449Ile)
|
rs139058991
|
0.00009
|
NM_000138.5(FBN1):c.1588+20C>T
|
rs376488308
|
0.00009
|
NM_000138.5(FBN1):c.2232G>C (p.Gly744=)
|
rs762745991
|
0.00009
|
NM_000138.5(FBN1):c.5225-13T>G
|
rs367786211
|
0.00009
|
NM_000138.5(FBN1):c.5296+12C>T
|
rs566030960
|
0.00009
|
NM_000138.5(FBN1):c.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.2928C>T (p.Arg976=)
|
rs761997019
|
0.00008
|
NM_000138.5(FBN1):c.3171C>T (p.Ser1057=)
|
rs144400069
|
0.00008
|
NM_000138.5(FBN1):c.3226A>C (p.Ile1076Leu)
|
rs201156527
|
0.00008
|
NM_000138.5(FBN1):c.5297-19A>G
|
rs375665466
|
0.00008
|
NM_000138.5(FBN1):c.7379A>G (p.Lys2460Arg)
|
rs144189837
|
0.00008
|
NM_000138.5(FBN1):c.1327+12A>G
|
rs764788168
|
0.00007
|
NM_000138.5(FBN1):c.2746G>A (p.Val916Met)
|
rs373644734
|
0.00007
|
NM_000138.5(FBN1):c.2772C>T (p.Gly924=)
|
rs539699143
|
0.00007
|
NM_000138.5(FBN1):c.124G>C (p.Ala42Pro)
|
rs377722423
|
0.00006
|
NM_000138.5(FBN1):c.1316G>A (p.Arg439Gln)
|
rs568810058
|
0.00006
|
NM_000138.5(FBN1):c.2434G>A (p.Glu812Lys)
|
rs201778577
|
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.3013G>A (p.Glu1005Lys)
|
rs564713154
|
0.00006
|
NM_000138.5(FBN1):c.3082+13G>A
|
rs757559866
|
0.00006
|
NM_000138.5(FBN1):c.3197G>C (p.Arg1066Thr)
|
rs376659156
|
0.00006
|
NM_000138.5(FBN1):c.3464-6C>T
|
rs375596551
|
0.00006
|
NM_000138.5(FBN1):c.4150A>G (p.Met1384Val)
|
rs775543440
|
0.00006
|
NM_000138.5(FBN1):c.4875C>G (p.Thr1625=)
|
rs140628
|
0.00006
|
NM_000138.5(FBN1):c.4986A>G (p.Thr1662=)
|
rs753705796
|
0.00006
|
NM_000138.5(FBN1):c.4998C>G (p.Thr1666=)
|
rs141925790
|
0.00006
|
NM_000138.5(FBN1):c.5066-13dup
|
rs774517414
|
0.00006
|
NM_000138.5(FBN1):c.5516A>T (p.Tyr1839Phe)
|
rs758725993
|
0.00006
|
NM_000138.5(FBN1):c.5573A>G (p.Asn1858Ser)
|
rs751472490
|
0.00006
|
NM_000138.5(FBN1):c.5672-15C>G
|
rs776163620
|
0.00006
|
NM_000138.5(FBN1):c.6164-3C>T
|
rs571365493
|
0.00006
|
NM_000138.5(FBN1):c.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.7204+7C>G
|
rs371763964
|
0.00006
|
NM_000138.5(FBN1):c.7412C>G (p.Pro2471Arg)
|
rs193922233
|
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.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.988+20G>A
|
rs375760654
|
0.00006
|
NM_000138.5(FBN1):c.2927G>A (p.Arg976His)
|
rs140954477
|
0.00005
|
NM_000138.5(FBN1):c.4162C>T (p.Arg1388Cys)
|
rs770860280
|
0.00005
|
NM_000138.5(FBN1):c.466A>C (p.Asn156His)
|
rs746352371
|
0.00005
|
NM_000138.5(FBN1):c.4746A>G (p.Thr1582=)
|
rs794727601
|
0.00005
|
NM_000138.5(FBN1):c.6852T>C (p.Pro2284=)
|
rs201226058
|
0.00005
|
NM_000138.5(FBN1):c.7051G>A (p.Gly2351Ser)
|
rs746127796
|
0.00005
|
NM_000138.5(FBN1):c.7964C>T (p.Ala2655Val)
|
rs202240409
|
0.00005
|
NM_000138.5(FBN1):c.7965G>A (p.Ala2655=)
|
rs199887650
|
0.00005
|
NM_000138.5(FBN1):c.8149G>A (p.Glu2717Lys)
|
rs187553035
|
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.1885G>A (p.Val629Ile)
|
rs140503215
|
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.2419+13T>A
|
rs372885314
|
0.00004
|
NM_000138.5(FBN1):c.2596A>G (p.Ile866Val)
|
rs794728329
|
0.00004
|
NM_000138.5(FBN1):c.2637C>T (p.Leu879=)
|
rs202163602
|
0.00004
|
NM_000138.5(FBN1):c.3145G>A (p.Gly1049Ser)
|
rs778181932
|
0.00004
|
NM_000138.5(FBN1):c.3246C>T (p.Gly1082=)
|
rs138855754
|
0.00004
|
NM_000138.5(FBN1):c.3415G>C (p.Glu1139Gln)
|
rs780972853
|
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.3838+20T>C
|
rs772287702
|
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.4804G>A (p.Val1602Ile)
|
rs780957696
|
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.6055G>A (p.Glu2019Lys)
|
rs377149130
|
0.00004
|
NM_000138.5(FBN1):c.7230C>T (p.His2410=)
|
rs193922231
|
0.00004
|
NM_000138.5(FBN1):c.7700-13G>C
|
rs775509707
|
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.8308C>T (p.His2770Tyr)
|
rs774658482
|
0.00004
|
NM_000138.5(FBN1):c.863-36T>C
|
rs181838746
|
0.00004
|
NM_000138.5(FBN1):c.980G>C (p.Arg327Thr)
|
rs775206410
|
0.00004
|
NM_000138.5(FBN1):c.985A>G (p.Ile329Val)
|
rs370955295
|
0.00004
|
NM_000138.5(FBN1):c.1277C>T (p.Pro426Leu)
|
rs146044644
|
0.00003
|
NM_000138.5(FBN1):c.139G>A (p.Gly47Ser)
|
rs762400500
|
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.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.3523A>G (p.Ile1175Val)
|
rs756754760
|
0.00003
|
NM_000138.5(FBN1):c.3610A>G (p.Met1204Val)
|
rs775707895
|
0.00003
|
NM_000138.5(FBN1):c.378A>G (p.Gly126=)
|
rs149611106
|
0.00003
|
NM_000138.5(FBN1):c.442+1G>A
|
rs868403743
|
0.00003
|
NM_000138.5(FBN1):c.4650C>T (p.Ser1550=)
|
rs933962712
|
0.00003
|
NM_000138.5(FBN1):c.5066-7C>G
|
rs377369765
|
0.00003
|
NM_000138.5(FBN1):c.5466C>T (p.Ala1822=)
|
rs947248042
|
0.00003
|
NM_000138.5(FBN1):c.6189G>A (p.Ala2063=)
|
rs375624881
|
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.6890C>T (p.Thr2297Met)
|
rs773785908
|
0.00003
|
NM_000138.5(FBN1):c.7241G>A (p.Arg2414Gln)
|
rs143863014
|
0.00003
|
NM_000138.5(FBN1):c.7430A>G (p.Gln2477Arg)
|
rs747777955
|
0.00003
|
NM_000138.5(FBN1):c.7451A>G (p.Lys2484Arg)
|
rs374630707
|
0.00003
|
NM_000138.5(FBN1):c.7684G>A (p.Gly2562Ser)
|
rs1397580172
|
0.00003
|
NM_000138.5(FBN1):c.7842T>G (p.Ala2614=)
|
rs764496589
|
0.00003
|
NM_000138.5(FBN1):c.8202C>T (p.Asn2734=)
|
rs113904256
|
0.00003
|
NM_000138.5(FBN1):c.8219A>G (p.Asn2740Ser)
|
rs193922242
|
0.00003
|
NM_000138.5(FBN1):c.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.885T>G (p.Ile295Met)
|
rs151056963
|
0.00003
|
NM_000138.5(FBN1):c.1370G>A (p.Arg457His)
|
rs141217134
|
0.00002
|
NM_000138.5(FBN1):c.1547G>A (p.Arg516Gln)
|
rs775489067
|
0.00002
|
NM_000138.5(FBN1):c.169A>C (p.Asn57His)
|
rs2044669685
|
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.2502T>A (p.Ser834=)
|
rs754372754
|
0.00002
|
NM_000138.5(FBN1):c.2547C>G (p.Ile849Met)
|
rs778258207
|
0.00002
|
NM_000138.5(FBN1):c.2582G>A (p.Arg861Gln)
|
rs794728328
|
0.00002
|
NM_000138.5(FBN1):c.2854+5A>G
|
rs762989672
|
0.00002
|
NM_000138.5(FBN1):c.2893G>C (p.Glu965Gln)
|
rs748905831
|
0.00002
|
NM_000138.5(FBN1):c.2911A>G (p.Ile971Val)
|
rs766660415
|
0.00002
|
NM_000138.5(FBN1):c.2949C>T (p.Ser983=)
|
rs769307676
|
0.00002
|
NM_000138.5(FBN1):c.2950G>A (p.Val984Ile)
|
rs747713929
|
0.00002
|
NM_000138.5(FBN1):c.3026C>G (p.Pro1009Arg)
|
rs148076256
|
0.00002
|
NM_000138.5(FBN1):c.3142A>G (p.Ile1048Val)
|
rs2229324
|
0.00002
|
NM_000138.5(FBN1):c.3374G>A (p.Arg1125Gln)
|
rs768831064
|
0.00002
|
NM_000138.5(FBN1):c.3410G>A (p.Arg1137His)
|
rs137854456
|
0.00002
|
NM_000138.5(FBN1):c.3446A>G (p.Asn1149Ser)
|
rs147584221
|
0.00002
|
NM_000138.5(FBN1):c.346+6T>G
|
rs371159129
|
0.00002
|
NM_000138.5(FBN1):c.4358C>T (p.Pro1453Leu)
|
rs368650399
|
0.00002
|
NM_000138.5(FBN1):c.4488G>A (p.Thr1496=)
|
rs370494288
|
0.00002
|
NM_000138.5(FBN1):c.467A>G (p.Asn156Ser)
|
rs779490973
|
0.00002
|
NM_000138.5(FBN1):c.4999G>A (p.Val1667Ile)
|
rs140626
|
0.00002
|
NM_000138.5(FBN1):c.5123G>A (p.Gly1708Glu)
|
rs758600004
|
0.00002
|
NM_000138.5(FBN1):c.5292C>T (p.Pro1764=)
|
rs111756438
|
0.00002
|
NM_000138.5(FBN1):c.5423-5C>T
|
rs368750818
|
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.6007G>A (p.Gly2003Arg)
|
rs1413737899
|
0.00002
|
NM_000138.5(FBN1):c.6045T>C (p.Asp2015=)
|
rs779825421
|
0.00002
|
NM_000138.5(FBN1):c.6180C>T (p.Tyr2060=)
|
rs974604498
|
0.00002
|
NM_000138.5(FBN1):c.619A>T (p.Thr207Ser)
|
rs1464303112
|
0.00002
|
NM_000138.5(FBN1):c.6379+4A>G
|
rs780370404
|
0.00002
|
NM_000138.5(FBN1):c.6387C>T (p.Asp2129=)
|
rs147342485
|
0.00002
|
NM_000138.5(FBN1):c.6534T>A (p.Asn2178Lys)
|
rs770257902
|
0.00002
|
NM_000138.5(FBN1):c.6872-12A>G
|
rs568325297
|
0.00002
|
NM_000138.5(FBN1):c.7400A>G (p.Gln2467Arg)
|
rs770839761
|
0.00002
|
NM_000138.5(FBN1):c.7501G>C (p.Val2501Leu)
|
rs371110611
|
0.00002
|
NM_000138.5(FBN1):c.7575C>T (p.Asn2525=)
|
rs759021474
|
0.00002
|
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)
|
rs727503054
|
0.00002
|
NM_000138.5(FBN1):c.832A>G (p.Lys278Glu)
|
rs775505429
|
0.00002
|
NM_000138.5(FBN1):c.8386G>A (p.Glu2796Lys)
|
rs112310699
|
0.00002
|
NM_000138.5(FBN1):c.8533C>T (p.Leu2845=)
|
rs767060377
|
0.00002
|
NM_000138.5(FBN1):c.8G>C (p.Arg3Pro)
|
rs149929989
|
0.00002
|
NM_000138.5(FBN1):c.-25C>T
|
rs973269130
|
0.00001
|
NM_000138.5(FBN1):c.-28C>T
|
rs780163247
|
0.00001
|
NM_000138.5(FBN1):c.1150G>A (p.Asp384Asn)
|
rs1405173549
|
0.00001
|
NM_000138.5(FBN1):c.1169C>T (p.Ser390Phe)
|
rs746385384
|
0.00001
|
NM_000138.5(FBN1):c.1216C>G (p.Leu406Val)
|
rs1257581073
|
0.00001
|
NM_000138.5(FBN1):c.1235T>A (p.Val412Asp)
|
rs764925097
|
0.00001
|
NM_000138.5(FBN1):c.1289C>T (p.Pro430Leu)
|
rs771134832
|
0.00001
|
NM_000138.5(FBN1):c.1391G>A (p.Arg464His)
|
rs1166727485
|
0.00001
|
NM_000138.5(FBN1):c.1454G>T (p.Arg485Leu)
|
rs371985966
|
0.00001
|
NM_000138.5(FBN1):c.1471G>A (p.Val491Ile)
|
rs373751659
|
0.00001
|
NM_000138.5(FBN1):c.149A>T (p.His50Leu)
|
rs886039132
|
0.00001
|
NM_000138.5(FBN1):c.1529C>T (p.Ser510Leu)
|
rs776942896
|
0.00001
|
NM_000138.5(FBN1):c.1533C>T (p.Tyr511=)
|
rs1060504146
|
0.00001
|
NM_000138.5(FBN1):c.1560G>C (p.Gln520His)
|
rs143253318
|
0.00001
|
NM_000138.5(FBN1):c.1586G>A (p.Arg529Gln)
|
rs1441536824
|
0.00001
|
NM_000138.5(FBN1):c.1634G>A (p.Arg545His)
|
rs193922179
|
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.1694G>A (p.Arg565Gln)
|
rs763815231
|
0.00001
|
NM_000138.5(FBN1):c.1826G>A (p.Arg609His)
|
rs770393471
|
0.00001
|
NM_000138.5(FBN1):c.1844A>G (p.Asn615Ser)
|
rs397515763
|
0.00001
|
NM_000138.5(FBN1):c.1856C>A (p.Thr619Asn)
|
rs377686210
|
0.00001
|
NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys)
|
rs727503057
|
0.00001
|
NM_000138.5(FBN1):c.1914A>C (p.Glu638Asp)
|
rs794728180
|
0.00001
|
NM_000138.5(FBN1):c.1937G>A (p.Gly646Asp)
|
rs1238689648
|
0.00001
|
NM_000138.5(FBN1):c.1991G>A (p.Gly664Glu)
|
rs1436966674
|
0.00001
|
NM_000138.5(FBN1):c.2017C>T (p.Pro673Ser)
|
rs766346620
|
0.00001
|
NM_000138.5(FBN1):c.2090A>G (p.Gln697Arg)
|
rs769708437
|
0.00001
|
NM_000138.5(FBN1):c.2106G>T (p.Gln702His)
|
rs778835898
|
0.00001
|
NM_000138.5(FBN1):c.2126C>G (p.Ala709Gly)
|
rs794728184
|
0.00001
|
NM_000138.5(FBN1):c.2127A>C (p.Ala709=)
|
rs886038990
|
0.00001
|
NM_000138.5(FBN1):c.2153C>T (p.Thr718Met)
|
rs777526851
|
0.00001
|
NM_000138.5(FBN1):c.2393A>G (p.Tyr798Cys)
|
rs1064793112
|
0.00001
|
NM_000138.5(FBN1):c.2433C>T (p.Cys811=)
|
rs193921256
|
0.00001
|
NM_000138.5(FBN1):c.2449A>G (p.Ile817Val)
|
rs965020667
|
0.00001
|
NM_000138.5(FBN1):c.247+3A>G
|
rs201854371
|
0.00001
|
NM_000138.5(FBN1):c.2531T>C (p.Ile844Thr)
|
rs751564716
|
0.00001
|
NM_000138.5(FBN1):c.2540-13C>T
|
rs1057522904
|
0.00001
|
NM_000138.5(FBN1):c.2629T>G (p.Ser877Ala)
|
rs1475934502
|
0.00001
|
NM_000138.5(FBN1):c.2683A>G (p.Ile895Val)
|
rs772308703
|
0.00001
|
NM_000138.5(FBN1):c.2711A>G (p.Lys904Arg)
|
rs778951277
|
0.00001
|
NM_000138.5(FBN1):c.2713G>A (p.Gly905Arg)
|
rs756111066
|
0.00001
|
NM_000138.5(FBN1):c.2773C>G (p.Leu925Val)
|
rs149681175
|
0.00001
|
NM_000138.5(FBN1):c.2785A>T (p.Thr929Ser)
|
rs372203315
|
0.00001
|
NM_000138.5(FBN1):c.284C>T (p.Ser95Leu)
|
rs922684362
|
0.00001
|
NM_000138.5(FBN1):c.287G>C (p.Arg96Thr)
|
rs794728291
|
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.2926C>T (p.Arg976Cys)
|
rs548296552
|
0.00001
|
NM_000138.5(FBN1):c.2977T>C (p.Cys993Arg)
|
rs1206813753
|
0.00001
|
NM_000138.5(FBN1):c.2979C>T (p.Cys993=)
|
rs150126098
|
0.00001
|
NM_000138.5(FBN1):c.297G>A (p.Met99Ile)
|
rs1314594090
|
0.00001
|
NM_000138.5(FBN1):c.3089A>G (p.Asn1030Ser)
|
rs375996640
|
0.00001
|
NM_000138.5(FBN1):c.3184G>A (p.Asp1062Asn)
|
rs758366498
|
0.00001
|
NM_000138.5(FBN1):c.3255G>A (p.Gln1085=)
|
rs767088495
|
0.00001
|
NM_000138.5(FBN1):c.3282A>G (p.Glu1094=)
|
rs773891478
|
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.3522C>T (p.Leu1174=)
|
rs778312047
|
0.00001
|
NM_000138.5(FBN1):c.353A>G (p.His118Arg)
|
rs765503809
|
0.00001
|
NM_000138.5(FBN1):c.3570C>T (p.Pro1190=)
|
rs188317014
|
0.00001
|
NM_000138.5(FBN1):c.3573T>A (p.Asp1191Glu)
|
rs150912619
|
0.00001
|
NM_000138.5(FBN1):c.3593T>C (p.Ile1198Thr)
|
rs755375255
|
0.00001
|
NM_000138.5(FBN1):c.365G>A (p.Arg122His)
|
rs1010750845
|
0.00001
|
NM_000138.5(FBN1):c.3688A>C (p.Met1230Leu)
|
rs759424465
|
0.00001
|
NM_000138.5(FBN1):c.3711C>T (p.Thr1237=)
|
rs536369260
|
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.3931T>A (p.Tyr1311Asn)
|
rs1406315227
|
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.4012G>A (p.Val1338Ile)
|
rs1416288007
|
0.00001
|
NM_000138.5(FBN1):c.4056C>T (p.Pro1352=)
|
rs766969494
|
0.00001
|
NM_000138.5(FBN1):c.4075A>G (p.Ile1359Val)
|
rs202192505
|
0.00001
|
NM_000138.5(FBN1):c.4359G>A (p.Pro1453=)
|
rs748551052
|
0.00001
|
NM_000138.5(FBN1):c.442C>T (p.Pro148Ser)
|
rs780624885
|
0.00001
|
NM_000138.5(FBN1):c.4446C>T (p.Gly1482=)
|
rs772727859
|
0.00001
|
NM_000138.5(FBN1):c.4460-8G>A
|
rs193922204
|
0.00001
|
NM_000138.5(FBN1):c.4492A>G (p.Ile1498Val)
|
rs761187818
|
0.00001
|
NM_000138.5(FBN1):c.451G>C (p.Glu151Gln)
|
rs1180715983
|
0.00001
|
NM_000138.5(FBN1):c.4527T>C (p.Tyr1509=)
|
rs776021250
|
0.00001
|
NM_000138.5(FBN1):c.4568G>A (p.Arg1523Gln)
|
rs201546777
|
0.00001
|
NM_000138.5(FBN1):c.4586C>A (p.Thr1529Asn)
|
rs794728227
|
0.00001
|
NM_000138.5(FBN1):c.4598A>G (p.Asn1533Ser)
|
rs1254024310
|
0.00001
|
NM_000138.5(FBN1):c.4639A>G (p.Thr1547Ala)
|
rs2043337594
|
0.00001
|
NM_000138.5(FBN1):c.4736C>T (p.Ala1579Val)
|
rs772009116
|
0.00001
|
NM_000138.5(FBN1):c.4738G>A (p.Val1580Met)
|
rs794728230
|
0.00001
|
NM_000138.5(FBN1):c.4824T>C (p.Asp1608=)
|
rs1057521341
|
0.00001
|
NM_000138.5(FBN1):c.484G>A (p.Ala162Thr)
|
rs193922210
|
0.00001
|
NM_000138.5(FBN1):c.4906G>A (p.Gly1636Ser)
|
rs767451077
|
0.00001
|
NM_000138.5(FBN1):c.4931G>A (p.Arg1644Gln)
|
rs768366890
|
0.00001
|
NM_000138.5(FBN1):c.5063T>C (p.Met1688Thr)
|
rs771444877
|
0.00001
|
NM_000138.5(FBN1):c.5065+4A>G
|
rs370287674
|
0.00001
|
NM_000138.5(FBN1):c.5065+5G>A
|
rs773660804
|
0.00001
|
NM_000138.5(FBN1):c.5142G>A (p.Met1714Ile)
|
rs368287795
|
0.00001
|
NM_000138.5(FBN1):c.5280T>C (p.Tyr1760=)
|
rs730880103
|
0.00001
|
NM_000138.5(FBN1):c.5283C>T (p.Thr1761=)
|
rs373887214
|
0.00001
|
NM_000138.5(FBN1):c.5293G>A (p.Val1765Ile)
|
rs2043270857
|
0.00001
|
NM_000138.5(FBN1):c.5347A>T (p.Ile1783Phe)
|
rs1232797551
|
0.00001
|
NM_000138.5(FBN1):c.5413G>A (p.Val1805Ile)
|
rs745636786
|
0.00001
|
NM_000138.5(FBN1):c.5423-15C>A
|
rs1426894149
|
0.00001
|
NM_000138.5(FBN1):c.5430C>T (p.Asp1810=)
|
rs765338162
|
0.00001
|
NM_000138.5(FBN1):c.5459G>A (p.Arg1820His)
|
rs1340155407
|
0.00001
|
NM_000138.5(FBN1):c.5481T>G (p.Thr1827=)
|
rs1261752884
|
0.00001
|
NM_000138.5(FBN1):c.5511C>T (p.Pro1837=)
|
rs372767912
|
0.00001
|
NM_000138.5(FBN1):c.5546-4A>C
|
rs919423974
|
0.00001
|
NM_000138.5(FBN1):c.5549G>A (p.Arg1850His)
|
rs779174265
|
0.00001
|
NM_000138.5(FBN1):c.5582G>A (p.Ser1861Asn)
|
rs766358553
|
0.00001
|
NM_000138.5(FBN1):c.5788+5G>A
|
rs193922219
|
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.6025G>A (p.Glu2009Lys)
|
rs773204216
|
0.00001
|
NM_000138.5(FBN1):c.6038-8T>A
|
rs569460847
|
0.00001
|
NM_000138.5(FBN1):c.6043G>A (p.Asp2015Asn)
|
rs768457461
|
0.00001
|
NM_000138.5(FBN1):c.6110A>G (p.Lys2037Arg)
|
rs556131403
|
0.00001
|
NM_000138.5(FBN1):c.6113G>A (p.Cys2038Tyr)
|
rs363804
|
0.00001
|
NM_000138.5(FBN1):c.6187G>A (p.Ala2063Thr)
|
rs1316593215
|
0.00001
|
NM_000138.5(FBN1):c.6289G>A (p.Glu2097Lys)
|
rs397515831
|
0.00001
|
NM_000138.5(FBN1):c.6354C>T (p.Ile2118=)
|
rs112989722
|
0.00001
|
NM_000138.5(FBN1):c.6403G>A (p.Asp2135Asn)
|
rs746167150
|
0.00001
|
NM_000138.5(FBN1):c.6416A>G (p.His2139Arg)
|
rs794728248
|
0.00001
|
NM_000138.5(FBN1):c.643C>G (p.Arg215Gly)
|
rs111687884
|
0.00001
|
NM_000138.5(FBN1):c.6448C>T (p.Arg2150Cys)
|
rs76702162
|
0.00001
|
NM_000138.5(FBN1):c.644G>A (p.Arg215Gln)
|
rs753703844
|
0.00001
|
NM_000138.5(FBN1):c.6454G>A (p.Glu2152Lys)
|
rs777877864
|
0.00001
|
NM_000138.5(FBN1):c.6461C>G (p.Pro2154Arg)
|
rs756219617
|
0.00001
|
NM_000138.5(FBN1):c.6493G>T (p.Val2165Leu)
|
rs200469438
|
0.00001
|
NM_000138.5(FBN1):c.6499A>C (p.Thr2167Pro)
|
rs373510719
|
0.00001
|
NM_000138.5(FBN1):c.6559G>A (p.Gly2187Ser)
|
rs760055383
|
0.00001
|
NM_000138.5(FBN1):c.6560G>A (p.Gly2187Asp)
|
rs2043050989
|
0.00001
|
NM_000138.5(FBN1):c.6595G>A (p.Gly2199Ser)
|
rs770132403
|
0.00001
|
NM_000138.5(FBN1):c.6659G>A (p.Arg2220Gln)
|
rs780651466
|
0.00001
|
NM_000138.5(FBN1):c.6724C>T (p.Arg2242Cys)
|
rs779749926
|
0.00001
|
NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr)
|
rs193922228
|
0.00001
|
NM_000138.5(FBN1):c.6835G>A (p.Gly2279Arg)
|
rs759674700
|
0.00001
|
NM_000138.5(FBN1):c.6845G>A (p.Arg2282Gln)
|
rs759696323
|
0.00001
|
NM_000138.5(FBN1):c.6916C>T (p.Arg2306Cys)
|
rs1318405523
|
0.00001
|
NM_000138.5(FBN1):c.6917G>A (p.Arg2306His)
|
rs770443276
|
0.00001
|
NM_000138.5(FBN1):c.6970G>A (p.Ala2324Thr)
|
rs148831709
|
0.00001
|
NM_000138.5(FBN1):c.6988G>A (p.Glu2330Lys)
|
rs1042807324
|
0.00001
|
NM_000138.5(FBN1):c.7057A>G (p.Ser2353Gly)
|
rs886042199
|
0.00001
|
NM_000138.5(FBN1):c.7082C>T (p.Ser2361Leu)
|
rs397515844
|
0.00001
|
NM_000138.5(FBN1):c.7083G>A (p.Ser2361=)
|
rs1597517953
|
0.00001
|
NM_000138.5(FBN1):c.7181G>A (p.Arg2394Gln)
|
rs199750146
|
0.00001
|
NM_000138.5(FBN1):c.7209C>T (p.Ile2403=)
|
rs767903343
|
0.00001
|
NM_000138.5(FBN1):c.722C>T (p.Thr241Met)
|
rs747049980
|
0.00001
|
NM_000138.5(FBN1):c.7330+5G>A
|
rs1330909386
|
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.7529A>G (p.Lys2510Arg)
|
rs767602851
|
0.00001
|
NM_000138.5(FBN1):c.7571-7C>A
|
rs1229246967
|
0.00001
|
NM_000138.5(FBN1):c.7598A>G (p.Asn2533Ser)
|
rs111231879
|
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.763G>A (p.Gly255Arg)
|
rs781113082
|
0.00001
|
NM_000138.5(FBN1):c.7702G>A (p.Val2568Met)
|
rs138558987
|
0.00001
|
NM_000138.5(FBN1):c.776G>A (p.Gly259Glu)
|
rs751169871
|
0.00001
|
NM_000138.5(FBN1):c.7773C>T (p.Ser2591=)
|
rs764526450
|
0.00001
|
NM_000138.5(FBN1):c.7836C>T (p.Leu2612=)
|
rs756689495
|
0.00001
|
NM_000138.5(FBN1):c.7839C>T (p.Ser2613=)
|
rs193922238
|
0.00001
|
NM_000138.5(FBN1):c.7906G>A (p.Gly2636Ser)
|
rs112566465
|
0.00001
|
NM_000138.5(FBN1):c.7916A>G (p.Tyr2639Cys)
|
rs794728280
|
0.00001
|
NM_000138.5(FBN1):c.7949A>G (p.Asn2650Ser)
|
rs756819682
|
0.00001
|
NM_000138.5(FBN1):c.8040C>T (p.Arg2680=)
|
rs1266550976
|
0.00001
|
NM_000138.5(FBN1):c.814A>C (p.Lys272Gln)
|
rs762276905
|
0.00001
|
NM_000138.5(FBN1):c.8177G>A (p.Arg2726Gln)
|
rs552157433
|
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.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.8461A>C (p.Lys2821Gln)
|
rs794728286
|
0.00001
|
NM_000138.5(FBN1):c.8537A>G (p.Glu2846Gly)
|
rs754570125
|
0.00001
|
NM_000138.5(FBN1):c.8551A>G (p.Lys2851Glu)
|
rs371939796
|
0.00001
|
NM_000138.5(FBN1):c.863A>G (p.Asp288Gly)
|
rs565078451
|
0.00001
|
NM_000138.5(FBN1):c.969A>G (p.Pro323=)
|
rs759743242
|
0.00001
|
NM_000138.5(FBN1):c.989-10T>C
|
rs774104217
|
0.00001
|
GRCh37/hg19 15q21.1(chr15:48736738-48760299)x3
|
|
|
GRCh37/hg19 15q21.1(chr15:48784658-48784783)x3
|
|
|
GRCh37/hg19 15q21.1(chr15:48805746-48808559)x1
|
|
|
GRCh37/hg19 15q21.1(chr15:48888480-48905289)x3
|
|
|
NM_000138.4(FBN1):c.5593_5594dup (p.Ile1866fs)
|
rs886043709
|
|
NM_000138.5(FBN1):c.*1562G>T
|
rs78442438
|
|
NM_000138.5(FBN1):c.*960del
|
rs527621676
|
|
NM_000138.5(FBN1):c.-35C>T
|
rs199781948
|
|
NM_000138.5(FBN1):c.-36G>C
|
rs543570298
|
|
NM_000138.5(FBN1):c.-36_5del (p.Met1fs)
|
rs2140787904
|
|
NM_000138.5(FBN1):c.1147+162dup
|
rs199844620
|
|
NM_000138.5(FBN1):c.1148-1G>A
|
rs1555400431
|
|
NM_000138.5(FBN1):c.1148-2A>C
|
rs397515756
|
|
NM_000138.5(FBN1):c.1148-2A>G
|
rs397515756
|
|
NM_000138.5(FBN1):c.1158C>G (p.Asn386Lys)
|
rs368737502
|
|
NM_000138.5(FBN1):c.1168T>C (p.Ser390Pro)
|
rs779113310
|
|
NM_000138.5(FBN1):c.1179_1180dup (p.Val394fs)
|
rs886041751
|
|
NM_000138.5(FBN1):c.1181T>G (p.Val394Gly)
|
rs1555400427
|
|
NM_000138.5(FBN1):c.1208C>T (p.Pro403Leu)
|
rs1555400426
|
|
NM_000138.5(FBN1):c.1211C>G (p.Pro404Arg)
|
rs779930519
|
|
NM_000138.5(FBN1):c.1211del (p.Pro404fs)
|
rs112289537
|
|
NM_000138.5(FBN1):c.127A>G (p.Lys43Glu)
|
rs751270801
|
|
NM_000138.5(FBN1):c.127A>T (p.Lys43Ter)
|
rs751270801
|
|
NM_000138.5(FBN1):c.1282C>A (p.Pro428Thr)
|
rs1064796730
|
|
NM_000138.5(FBN1):c.1283C>G (p.Pro428Arg)
|
|
|
NM_000138.5(FBN1):c.1285C>T (p.Arg429Ter)
|
rs112645512
|
|
NM_000138.5(FBN1):c.1286G>A (p.Arg429Gln)
|
rs368089138
|
|
NM_000138.5(FBN1):c.1292C>T (p.Pro431Leu)
|
rs2141330893
|
|
NM_000138.5(FBN1):c.1297_1300dup (p.Tyr434Ter)
|
rs794728341
|
|
NM_000138.5(FBN1):c.1304T>C (p.Leu435Pro)
|
|
|
NM_000138.5(FBN1):c.1311A>G (p.Pro437=)
|
rs1253494702
|
|
NM_000138.5(FBN1):c.1331dup (p.Leu445fs)
|
|
|
NM_000138.5(FBN1):c.133A>G (p.Arg45Gly)
|
rs1597652333
|
|
NM_000138.5(FBN1):c.1361_1371del (p.Gln454fs)
|
rs1064793723
|
|
NM_000138.5(FBN1):c.1379G>A (p.Cys460Tyr)
|
rs1597581001
|
|
NM_000138.5(FBN1):c.137G>A (p.Gly46Asp)
|
rs1064797198
|
|
NM_000138.5(FBN1):c.1420T>C (p.Cys474Arg)
|
rs1555400380
|
|
NM_000138.5(FBN1):c.1420T>G (p.Cys474Gly)
|
rs1555400380
|
|
NM_000138.5(FBN1):c.1421G>A (p.Cys474Tyr)
|
rs794728166
|
|
NM_000138.5(FBN1):c.1426T>G (p.Cys476Gly)
|
rs794728326
|
|
NM_000138.5(FBN1):c.1459G>T (p.Glu487Ter)
|
rs1555400374
|
|
NM_000138.5(FBN1):c.1468+2T>C
|
rs794728167
|
|
NM_000138.5(FBN1):c.1468+5G>A
|
rs397515757
|
|
NM_000138.5(FBN1):c.1468G>C (p.Asp490His)
|
|
|
NM_000138.5(FBN1):c.1481G>A (p.Cys494Tyr)
|
rs1057518881
|
|
NM_000138.5(FBN1):c.1481G>C (p.Cys494Ser)
|
rs1057518881
|
|
NM_000138.5(FBN1):c.1498G>C (p.Ala500Pro)
|
rs886044236
|
|
NM_000138.5(FBN1):c.150C>A (p.His50Gln)
|
rs1597652302
|
|
NM_000138.5(FBN1):c.1516A>T (p.Asn506Tyr)
|
rs2141327814
|
|
NM_000138.5(FBN1):c.1522C>T (p.Gln508Ter)
|
rs1057521859
|
|
NM_000138.5(FBN1):c.1526G>T (p.Gly509Val)
|
rs2141327790
|
|
NM_000138.5(FBN1):c.1530G>A (p.Ser510=)
|
rs147511977
|
|
NM_000138.5(FBN1):c.1538G>A (p.Cys513Tyr)
|
rs1060501036
|
|
NM_000138.5(FBN1):c.153C>A (p.Asp51Glu)
|
rs1057524406
|
|
NM_000138.5(FBN1):c.1545_1546inv (p.Cys515_Arg516delinsTrpGly)
|
|
|
NM_000138.5(FBN1):c.1546C>T (p.Arg516Ter)
|
rs113812345
|
|
NM_000138.5(FBN1):c.1552G>A (p.Gly518Arg)
|
rs794728168
|
|
NM_000138.5(FBN1):c.1553G>T (p.Gly518Val)
|
rs794728169
|
|
NM_000138.5(FBN1):c.155_156delinsTT (p.Ala52Val)
|
rs2140787437
|
|
NM_000138.5(FBN1):c.1566A>T (p.Thr522=)
|
rs531264662
|
|
NM_000138.5(FBN1):c.1570dup (p.Thr524fs)
|
rs1555400274
|
|
NM_000138.5(FBN1):c.1573C>T (p.Arg525Trp)
|
rs768253008
|
|
NM_000138.5(FBN1):c.1583G>A (p.Cys528Tyr)
|
rs794728170
|
|
NM_000138.5(FBN1):c.1584C>A (p.Cys528Ter)
|
|
|
NM_000138.5(FBN1):c.1585C>T (p.Arg529Ter)
|
rs137854476
|
|
NM_000138.5(FBN1):c.1588+10T>G
|
rs761924614
|
|
NM_000138.5(FBN1):c.1589-5T>C
|
rs1371798538
|
|
NM_000138.5(FBN1):c.1589-9T>A
|
rs1597578071
|
|
NM_000138.5(FBN1):c.1589A>G (p.Asp530Gly)
|
rs794728171
|
|
NM_000138.5(FBN1):c.1606C>T (p.Gln536Ter)
|
rs1479709398
|
|
NM_000138.5(FBN1):c.1624_1634del (p.Asn542fs)
|
rs794728296
|
|
NM_000138.5(FBN1):c.1625A>G (p.Asn542Ser)
|
rs963564435
|
|
NM_000138.5(FBN1):c.162A>G (p.Lys54=)
|
rs777116853
|
|
NM_000138.5(FBN1):c.1630G>A (p.Gly544Arg)
|
rs1555400063
|
|
NM_000138.5(FBN1):c.1633C>T (p.Arg545Cys)
|
rs730880099
|
|
NM_000138.5(FBN1):c.164+1G>A
|
rs794728213
|
|
NM_000138.5(FBN1):c.1640T>A (p.Ile547Asn)
|
rs112269822
|
|
NM_000138.5(FBN1):c.165-8_165-6delinsGG
|
rs2044669818
|
|
NM_000138.5(FBN1):c.1664G>T (p.Cys555Phe)
|
rs794728172
|
|
NM_000138.5(FBN1):c.1670G>A (p.Cys557Tyr)
|
rs1057521102
|
|
NM_000138.5(FBN1):c.1678G>A (p.Gly560Ser)
|
rs1064794283
|
|
NM_000138.5(FBN1):c.1679G>A (p.Gly560Asp)
|
rs1555400052
|
|
NM_000138.5(FBN1):c.1679dup (p.Phe561fs)
|
rs794728297
|
|
NM_000138.5(FBN1):c.1697A>G (p.Asp566Gly)
|
rs1475101390
|
|
NM_000138.5(FBN1):c.170A>G (p.Asn57Ser)
|
rs2044669666
|
|
NM_000138.5(FBN1):c.1714+4A>G
|
rs1189850321
|
|
NM_000138.5(FBN1):c.1715-2A>G
|
rs2043733370
|
|
NM_000138.5(FBN1):c.1715-8A>G
|
rs1555399978
|
|
NM_000138.5(FBN1):c.1718T>C (p.Met573Thr)
|
rs2141321700
|
|
NM_000138.5(FBN1):c.1721A>G (p.Asp574Gly)
|
rs1566914907
|
|
NM_000138.5(FBN1):c.1726T>C (p.Cys576Arg)
|
rs794728174
|
|
NM_000138.5(FBN1):c.1726T>G (p.Cys576Gly)
|
rs794728174
|
|
NM_000138.5(FBN1):c.1746C>G (p.Cys582Trp)
|
|
|
NM_000138.5(FBN1):c.1753G>A (p.Gly585Arg)
|
rs1085307528
|
|
NM_000138.5(FBN1):c.1759T>G (p.Cys587Gly)
|
rs1555399968
|
|
NM_000138.5(FBN1):c.1766A>G (p.Asn589Ser)
|
rs1555399962
|
|
NM_000138.5(FBN1):c.1774G>T (p.Gly592Cys)
|
rs1057521211
|
|
NM_000138.5(FBN1):c.1783A>T (p.Lys595Ter)
|
rs1555399958
|
|
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.1799C>T (p.Pro600Leu)
|
rs2141321536
|
|
NM_000138.5(FBN1):c.1804T>C (p.Phe602Leu)
|
rs2141321516
|
|
NM_000138.5(FBN1):c.1817C>A (p.Ser606Ter)
|
rs794728176
|
|
NM_000138.5(FBN1):c.1836A>T (p.Lys612Asn)
|
rs1597577053
|
|
NM_000138.5(FBN1):c.1837+36G>A
|
rs76951679
|
|
NM_000138.5(FBN1):c.1837+5G>A
|
rs1445085747
|
|
NM_000138.5(FBN1):c.1837G>T (p.Asp613Tyr)
|
rs1555399943
|
|
NM_000138.5(FBN1):c.1838-1G>T
|
rs1555399840
|
|
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.1847A>G (p.Glu616Gly)
|
rs25457
|
|
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.1851T>G (p.Cys617Trp)
|
rs2141317460
|
|
NM_000138.5(FBN1):c.1862G>A (p.Gly621Glu)
|
rs1555399833
|
|
NM_000138.5(FBN1):c.1868G>T (p.Cys623Phe)
|
rs1566914030
|
|
NM_000138.5(FBN1):c.1880_1881del (p.Arg627fs)
|
rs1555399827
|
|
NM_000138.5(FBN1):c.1883G>A (p.Cys628Tyr)
|
rs1555399825
|
|
NM_000138.5(FBN1):c.1883G>C (p.Cys628Ser)
|
|
|
NM_000138.5(FBN1):c.1884C>G (p.Cys628Trp)
|
rs150421653
|
|
NM_000138.5(FBN1):c.1889A>T (p.Asn630Ile)
|
rs794728178
|
|
NM_000138.5(FBN1):c.188A>G (p.Tyr63Cys)
|
rs1303389437
|
|
NM_000138.5(FBN1):c.1890C>A (p.Asn630Lys)
|
rs794728179
|
|
NM_000138.5(FBN1):c.1891A>C (p.Thr631Pro)
|
rs2043697314
|
|
NM_000138.5(FBN1):c.1893T>C (p.Thr631=)
|
rs1597574997
|
|
NM_000138.5(FBN1):c.1908A>G (p.Arg636=)
|
rs886039089
|
|
NM_000138.5(FBN1):c.1911_1915del (p.Cys637fs)
|
|
|
NM_000138.5(FBN1):c.1944T>A (p.Asp648Glu)
|
rs2141317175
|
|
NM_000138.5(FBN1):c.1948C>T (p.Arg650Cys)
|
rs193922185
|
|
NM_000138.5(FBN1):c.1957_1958del (p.Cys652_Val653insTer)
|
rs886041350
|
|
NM_000138.5(FBN1):c.1967A>G (p.His656Arg)
|
rs1555399777
|
|
NM_000138.5(FBN1):c.1970T>C (p.Met657Thr)
|
rs2043686451
|
|
NM_000138.5(FBN1):c.1973G>A (p.Arg658Gln)
|
rs794728181
|
|
NM_000138.5(FBN1):c.198C>A (p.Tyr66Ter)
|
rs2044669179
|
|
NM_000138.5(FBN1):c.2003_2007dup (p.Cys670fs)
|
rs1555399769
|
|
NM_000138.5(FBN1):c.200G>T (p.Cys67Phe)
|
rs2044669166
|
|
NM_000138.5(FBN1):c.2022G>C (p.Leu674Phe)
|
rs794728182
|
|
NM_000138.5(FBN1):c.2023_2026del (p.Phe675fs)
|
rs886041349
|
|
NM_000138.5(FBN1):c.2038A>G (p.Lys680Glu)
|
|
|
NM_000138.5(FBN1):c.2042C>A (p.Ser681Tyr)
|
rs1555399766
|
|
NM_000138.5(FBN1):c.2048G>A (p.Cys683Tyr)
|
rs2141315817
|
|
NM_000138.5(FBN1):c.2050_2054dup (p.Ala686fs)
|
rs1555399762
|
|
NM_000138.5(FBN1):c.2055C>A (p.Cys685Ter)
|
rs140603
|
|
NM_000138.5(FBN1):c.2058_2063del (p.Ser687_Thr688del)
|
rs794728298
|
|
NM_000138.5(FBN1):c.2071G>C (p.Ala691Pro)
|
rs794728183
|
|
NM_000138.5(FBN1):c.2075T>G (p.Phe692Cys)
|
rs955639059
|
|
NM_000138.5(FBN1):c.2082A>T (p.Glu694Asp)
|
|
|
NM_000138.5(FBN1):c.2084C>A (p.Pro695His)
|
rs1555399754
|
|
NM_000138.5(FBN1):c.2090A>C (p.Gln697Pro)
|
rs769708437
|
|
NM_000138.5(FBN1):c.2092C>T (p.Pro698Ser)
|
rs1085307625
|
|
NM_000138.5(FBN1):c.2094del (p.Cys699fs)
|
rs886039360
|
|
NM_000138.5(FBN1):c.2113+1G>C
|
rs1566913670
|
|
NM_000138.5(FBN1):c.2113+2T>G
|
rs730880105
|
|
NM_000138.5(FBN1):c.2114-2A>C
|
rs886041440
|
|
NM_000138.5(FBN1):c.2114-2A>G
|
rs886041440
|
|
NM_000138.5(FBN1):c.2114-3C>G
|
rs886042783
|
|
NM_000138.5(FBN1):c.212G>C (p.Trp71Ser)
|
rs794728289
|
|
NM_000138.5(FBN1):c.2147G>A (p.Gly716Glu)
|
rs794728185
|
|
NM_000138.5(FBN1):c.2168-15dup
|
rs762586890
|
|
NM_000138.5(FBN1):c.2168-279_2168-277del
|
rs3830220
|
|
NM_000138.5(FBN1):c.2168A>G (p.Asp723Gly)
|
rs137854463
|
|
NM_000138.5(FBN1):c.2171T>C (p.Ile724Thr)
|
rs878853677
|
|
NM_000138.5(FBN1):c.2179T>C (p.Cys727Arg)
|
rs1064794025
|
|
NM_000138.5(FBN1):c.2180G>A (p.Cys727Tyr)
|
rs1555399381
|
|
NM_000138.5(FBN1):c.2180dup (p.Cys727fs)
|
rs794728299
|
|
NM_000138.5(FBN1):c.2201G>T (p.Cys734Phe)
|
rs794728187
|
|
NM_000138.5(FBN1):c.2209G>A (p.Gly737Arg)
|
rs1597570356
|
|
NM_000138.5(FBN1):c.2216G>A (p.Cys739Tyr)
|
rs1555399378
|
|
NM_000138.5(FBN1):c.2219A>C (p.Glu740Ala)
|
rs2043616665
|
|
NM_000138.5(FBN1):c.2225T>C (p.Leu742Pro)
|
rs1555399377
|
|
NM_000138.5(FBN1):c.2227C>T (p.Arg743Cys)
|
rs794728188
|
|
NM_000138.5(FBN1):c.2237A>G (p.Tyr746Cys)
|
rs1555399372
|
|
NM_000138.5(FBN1):c.2243G>A (p.Cys748Tyr)
|
rs1064794282
|
|
NM_000138.5(FBN1):c.2254del (p.Ser752fs)
|
rs1057518554
|
|
NM_000138.5(FBN1):c.225del (p.Gly76fs)
|
rs794728324
|
|
NM_000138.5(FBN1):c.2262T>G (p.Tyr754Ter)
|
|
|
NM_000138.5(FBN1):c.2262_2263del (p.Tyr754_Glu755delinsTer)
|
rs794728300
|
|
NM_000138.5(FBN1):c.2269del (p.Asp757fs)
|
rs1064793636
|
|
NM_000138.5(FBN1):c.2293+224dup
|
rs3214936
|
|
NM_000138.5(FBN1):c.2293+5G>A
|
rs794728327
|
|
NM_000138.5(FBN1):c.2293G>A (p.Asp765Asn)
|
rs2043615915
|
|
NM_000138.5(FBN1):c.2294-14C>T
|
rs201446948
|
|
NM_000138.5(FBN1):c.2294-1G>T
|
rs1064793914
|
|
NM_000138.5(FBN1):c.2294A>G (p.Asp765Gly)
|
rs2141305168
|
|
NM_000138.5(FBN1):c.2296del (p.Ile766fs)
|
rs2141305162
|
|
NM_000138.5(FBN1):c.229G>A (p.Gly77Arg)
|
rs794728290
|
|
NM_000138.5(FBN1):c.2303A>C (p.Glu768Ala)
|
rs794728189
|
|
NM_000138.5(FBN1):c.2323C>T (p.Leu775Phe)
|
|
|
NM_000138.5(FBN1):c.2341T>C (p.Cys781Arg)
|
rs397515766
|
|
NM_000138.5(FBN1):c.2344A>T (p.Arg782Ter)
|
rs752891726
|
|
NM_000138.5(FBN1):c.2349T>A (p.Asn783Lys)
|
rs1057522903
|
|
NM_000138.5(FBN1):c.2357G>A (p.Gly786Glu)
|
|
|
NM_000138.5(FBN1):c.2360G>T (p.Ser787Ile)
|
|
|
NM_000138.5(FBN1):c.2369G>A (p.Cys790Tyr)
|
rs193922188
|
|
NM_000138.5(FBN1):c.2386T>C (p.Phe796Leu)
|
rs1555399266
|
|
NM_000138.5(FBN1):c.2418A>G (p.Glu806=)
|
rs794728191
|
|
NM_000138.5(FBN1):c.2420-9_2420-8delinsAGC
|
rs1555399217
|
|
NM_000138.5(FBN1):c.2420A>T (p.Asp807Val)
|
|
|
NM_000138.5(FBN1):c.2433C>A (p.Cys811Ter)
|
rs193921256
|
|
NM_000138.5(FBN1):c.2442T>A (p.Ser814Arg)
|
rs1555399208
|
|
NM_000138.5(FBN1):c.2446T>C (p.Cys816Arg)
|
rs1555399206
|
|
NM_000138.5(FBN1):c.2465A>G (p.Lys822Arg)
|
rs2141304281
|
|
NM_000138.5(FBN1):c.247+1G>A
|
rs25404
|
|
NM_000138.5(FBN1):c.248-7T>G
|
rs2140734107
|
|
NM_000138.5(FBN1):c.2492A>T (p.Glu831Val)
|
|
|
NM_000138.5(FBN1):c.2493A>G (p.Glu831=)
|
rs756410019
|
|
NM_000138.5(FBN1):c.2495G>A (p.Cys832Tyr)
|
rs397515775
|
|
NM_000138.5(FBN1):c.2503G>C (p.Glu835Gln)
|
|
|
NM_000138.5(FBN1):c.2508T>A (p.Ser836Arg)
|
rs193922190
|
|
NM_000138.5(FBN1):c.2530A>G (p.Ile844Val)
|
|
|
NM_000138.5(FBN1):c.2534G>C (p.Cys845Ser)
|
rs1597569172
|
|
NM_000138.5(FBN1):c.2539+10T>A
|
rs878853679
|
|
NM_000138.5(FBN1):c.2539+1G>A
|
rs794728192
|
|
NM_000138.5(FBN1):c.2544C>T (p.Thr848=)
|
rs2043596539
|
|
NM_000138.5(FBN1):c.2569_2570del (p.Val857fs)
|
rs794728301
|
|
NM_000138.5(FBN1):c.2581C>T (p.Arg861Ter)
|
rs140583
|
|
NM_000138.5(FBN1):c.2598_2601dup (p.Gly868fs)
|
rs1555399159
|
|
NM_000138.5(FBN1):c.2600A>T (p.Asn867Ile)
|
rs145464311
|
|
NM_000138.5(FBN1):c.2601dup (p.Gly868fs)
|
rs794728302
|
|
NM_000138.5(FBN1):c.2621A>C (p.Gln874Pro)
|
rs2043595247
|
|
NM_000138.5(FBN1):c.2627G>A (p.Cys876Tyr)
|
rs794728193
|
|
NM_000138.5(FBN1):c.2638G>A (p.Gly880Ser)
|
rs794728194
|
|
NM_000138.5(FBN1):c.2639G>A (p.Gly880Asp)
|
rs886038953
|
|
NM_000138.5(FBN1):c.2641G>A (p.Ala881Thr)
|
rs781682561
|
|
NM_000138.5(FBN1):c.2644G>A (p.Ala882Thr)
|
rs2043594915
|
|
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val)
|
rs794728195
|
|
NM_000138.5(FBN1):c.2668T>A (p.Cys890Ser)
|
rs1555399145
|
|
NM_000138.5(FBN1):c.2669G>A (p.Cys890Tyr)
|
rs1555399144
|
|
NM_000138.5(FBN1):c.266G>A (p.Cys89Tyr)
|
rs112660651
|
|
NM_000138.5(FBN1):c.266G>T (p.Cys89Phe)
|
rs112660651
|
|
NM_000138.5(FBN1):c.2670C>A (p.Cys890Ter)
|
rs2141303490
|
|
NM_000138.5(FBN1):c.2671C>T (p.Gln891Ter)
|
rs794728196
|
|
NM_000138.5(FBN1):c.2673A>G (p.Gln891=)
|
rs1555399143
|
|
NM_000138.5(FBN1):c.2677+5G>C
|
rs1085307946
|
|
NM_000138.5(FBN1):c.2677G>T (p.Asp893Tyr)
|
rs193922193
|
|
NM_000138.5(FBN1):c.2678-3C>G
|
rs747274959
|
|
NM_000138.5(FBN1):c.2696G>T (p.Gly899Val)
|
|
|
NM_000138.5(FBN1):c.2701del (p.Ser901fs)
|
rs794728303
|
|
NM_000138.5(FBN1):c.2712_2716del (p.Lys904fs)
|
rs794728304
|
|
NM_000138.5(FBN1):c.2712del (p.Gly905fs)
|
rs1064793946
|
|
NM_000138.5(FBN1):c.2714G>A (p.Gly905Glu)
|
rs1060501091
|
|
NM_000138.5(FBN1):c.2722T>C (p.Cys908Arg)
|
rs1060501021
|
|
NM_000138.5(FBN1):c.2723G>A (p.Cys908Tyr)
|
rs1057523406
|
|
NM_000138.5(FBN1):c.2723G>C (p.Cys908Ser)
|
rs1057523406
|
|
NM_000138.5(FBN1):c.2728+1G>C
|
rs794728322
|
|
NM_000138.5(FBN1):c.2728+3A>G
|
rs2141302328
|
|
NM_000138.5(FBN1):c.2729-198T>C
|
rs74662988
|
|
NM_000138.5(FBN1):c.2737G>A (p.Glu913Lys)
|
rs1555398996
|
|
NM_000138.5(FBN1):c.2743G>A (p.Glu915Lys)
|
rs746834413
|
|
NM_000138.5(FBN1):c.2752C>T (p.Pro918Ser)
|
rs1555398992
|
|
NM_000138.5(FBN1):c.2753del (p.Pro918fs)
|
|
|
NM_000138.5(FBN1):c.2761T>A (p.Cys921Ser)
|
rs1597567249
|
|
NM_000138.5(FBN1):c.2762_2763del (p.Val920_Cys921insTer)
|
rs2141300459
|
|
NM_000138.5(FBN1):c.2768dup (p.Asn923fs)
|
rs1597567246
|
|
NM_000138.5(FBN1):c.2792G>A (p.Gly931Glu)
|
rs200078617
|
|
NM_000138.5(FBN1):c.2806C>T (p.Gln936Ter)
|
rs794728197
|
|
NM_000138.5(FBN1):c.2810G>A (p.Cys937Tyr)
|
rs113602180
|
|
NM_000138.5(FBN1):c.2814del (p.Ser939fs)
|
rs1131691766
|
|
NM_000138.5(FBN1):c.2816del (p.Ser939fs)
|
rs1555398976
|
|
NM_000138.5(FBN1):c.2854+1G>T
|
rs112809590
|
|
NM_000138.5(FBN1):c.2855-139dup
|
rs200982490
|
|
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.2872T>C (p.Cys958Arg)
|
rs2043545592
|
|
NM_000138.5(FBN1):c.2891A>T (p.Asp964Val)
|
rs2141297501
|
|
NM_000138.5(FBN1):c.2893G>A (p.Glu965Lys)
|
rs748905831
|
|
NM_000138.5(FBN1):c.2902_2920del (p.Thr968fs)
|
rs1064793770
|
|
NM_000138.5(FBN1):c.2909C>A (p.Pro970His)
|
rs751985082
|
|
NM_000138.5(FBN1):c.2913T>C (p.Ile971=)
|
rs2141297416
|
|
NM_000138.5(FBN1):c.2920dup (p.Arg974fs)
|
rs1555398825
|
|
NM_000138.5(FBN1):c.2931G>C (p.Met977Ile)
|
rs759544189
|
|
NM_000138.5(FBN1):c.2934dup (p.Ala979fs)
|
rs1555398821
|
|
NM_000138.5(FBN1):c.2945G>C (p.Cys982Ser)
|
rs1057524458
|
|
NM_000138.5(FBN1):c.2948C>T (p.Ser983Phe)
|
rs2141297315
|
|
NM_000138.5(FBN1):c.2952C>T (p.Val984=)
|
rs374670384
|
|
NM_000138.5(FBN1):c.2953G>A (p.Gly985Arg)
|
rs794728199
|
|
NM_000138.5(FBN1):c.2963G>A (p.Trp988Ter)
|
rs2043543553
|
|
NM_000138.5(FBN1):c.2964G>A (p.Trp988Ter)
|
|
|
NM_000138.5(FBN1):c.2964_2971del (p.Trp988_Glu991delinsTer)
|
rs878853095
|
|
NM_000138.5(FBN1):c.2987G>A (p.Cys996Tyr)
|
rs2141297233
|
|
NM_000138.5(FBN1):c.2T>G (p.Met1Arg)
|
rs886041536
|
|
NM_000138.5(FBN1):c.3012C>G (p.Tyr1004Ter)
|
rs397515784
|
|
NM_000138.5(FBN1):c.3020T>G (p.Leu1007Arg)
|
rs794728200
|
|
NM_000138.5(FBN1):c.3037G>A (p.Gly1013Arg)
|
rs140593
|
|
NM_000138.5(FBN1):c.305G>T (p.Cys102Phe)
|
rs794728292
|
|
NM_000138.5(FBN1):c.306C>A (p.Cys102Ter)
|
rs25388
|
|
NM_000138.5(FBN1):c.3082G>A (p.Asp1028Asn)
|
rs1555398769
|
|
NM_000138.5(FBN1):c.3083A>G (p.Asp1028Gly)
|
rs1131691317
|
|
NM_000138.5(FBN1):c.3091G>A (p.Glu1031Lys)
|
rs1555398685
|
|
NM_000138.5(FBN1):c.3094T>C (p.Cys1032Arg)
|
rs1555398684
|
|
NM_000138.5(FBN1):c.3102G>A (p.Met1034Ile)
|
|
|
NM_000138.5(FBN1):c.3123C>T (p.His1041=)
|
rs576395584
|
|
NM_000138.5(FBN1):c.3127A>T (p.Lys1043Ter)
|
rs2141295258
|
|
NM_000138.5(FBN1):c.3131G>T (p.Cys1044Phe)
|
rs730880100
|
|
NM_000138.5(FBN1):c.3137A>G (p.Asn1046Ser)
|
rs2141295239
|
|
NM_000138.5(FBN1):c.3143T>C (p.Ile1048Thr)
|
rs1555398673
|
|
NM_000138.5(FBN1):c.3145G>T (p.Gly1049Cys)
|
rs778181932
|
|
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.3173G>T (p.Gly1058Val)
|
rs794728202
|
|
NM_000138.5(FBN1):c.319A>T (p.Ile107Leu)
|
rs2140733930
|
|
NM_000138.5(FBN1):c.3208+55_3208+60del
|
rs143836403
|
|
NM_000138.5(FBN1):c.3209-13T>A
|
rs1555398650
|
|
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.3221G>A (p.Cys1074Tyr)
|
rs1555398645
|
|
NM_000138.5(FBN1):c.3224G>A (p.Arg1075His)
|
rs369745372
|
|
NM_000138.5(FBN1):c.3224G>C (p.Arg1075Pro)
|
rs369745372
|
|
NM_000138.5(FBN1):c.3230C>G (p.Ser1077Cys)
|
|
|
NM_000138.5(FBN1):c.3238del (p.Leu1080fs)
|
rs886039549
|
|
NM_000138.5(FBN1):c.3253C>T (p.Gln1085Ter)
|
rs1555398640
|
|
NM_000138.5(FBN1):c.3258del (p.Cys1086fs)
|
rs1085307786
|
|
NM_000138.5(FBN1):c.3265del (p.Thr1089fs)
|
rs1064793510
|
|
NM_000138.5(FBN1):c.3275A>T (p.Asp1092Val)
|
rs2043525005
|
|
NM_000138.5(FBN1):c.3283T>A (p.Cys1095Ser)
|
rs1064793113
|
|
NM_000138.5(FBN1):c.3289T>C (p.Cys1097Arg)
|
rs1131691578
|
|
NM_000138.5(FBN1):c.3290G>A (p.Cys1097Tyr)
|
rs1555398627
|
|
NM_000138.5(FBN1):c.3297A>T (p.Glu1099Asp)
|
rs1555398626
|
|
NM_000138.5(FBN1):c.3299G>C (p.Gly1100Ala)
|
rs112547596
|
|
NM_000138.5(FBN1):c.32T>A (p.Leu11Gln)
|
rs1555407429
|
|
NM_000138.5(FBN1):c.3302A>G (p.Tyr1101Cys)
|
rs1555398625
|
|
NM_000138.5(FBN1):c.3337+13del
|
rs563620440
|
|
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.3350G>T (p.Cys1117Phe)
|
|
|
NM_000138.5(FBN1):c.3373C>T (p.Arg1125Ter)
|
rs727505006
|
|
NM_000138.5(FBN1):c.3379G>A (p.Gly1127Ser)
|
rs137854468
|
|
NM_000138.5(FBN1):c.3380G>A (p.Gly1127Asp)
|
rs1064794882
|
|
NM_000138.5(FBN1):c.3380G>T (p.Gly1127Val)
|
rs1064794882
|
|
NM_000138.5(FBN1):c.3401dup (p.Ser1135fs)
|
rs794728342
|
|
NM_000138.5(FBN1):c.3408C>G (p.Tyr1136Ter)
|
|
|
NM_000138.5(FBN1):c.3412T>C (p.Cys1138Arg)
|
rs1131691806
|
|
NM_000138.5(FBN1):c.341G>C (p.Arg114Thr)
|
|
|
NM_000138.5(FBN1):c.3425C>G (p.Pro1142Arg)
|
rs2043517357
|
|
NM_000138.5(FBN1):c.3443C>G (p.Pro1148Arg)
|
rs2141293556
|
|
NM_000138.5(FBN1):c.3450_3458delinsGTCCGCGTT (p.Ile1150_Cys1153delinsMetSerAlaPhe)
|
rs1064796522
|
|
NM_000138.5(FBN1):c.346+3A>G
|
|
|
NM_000138.5(FBN1):c.3463+15T>A
|
rs1597563076
|
|
NM_000138.5(FBN1):c.3464-5_3464-4delinsAG
|
rs2141293349
|
|
NM_000138.5(FBN1):c.3467T>G (p.Ile1156Ser)
|
rs2043515378
|
|
NM_000138.5(FBN1):c.347-19CTT[2]
|
rs756583965
|
|
NM_000138.5(FBN1):c.3475T>A (p.Cys1159Ser)
|
rs794728205
|
|
NM_000138.5(FBN1):c.3496T>C (p.Cys1166Arg)
|
rs1064794796
|
|
NM_000138.5(FBN1):c.3497G>A (p.Cys1166Tyr)
|
rs2043515038
|
|
NM_000138.5(FBN1):c.3506G>T (p.Gly1169Val)
|
rs794728330
|
|
NM_000138.5(FBN1):c.3508C>T (p.Arg1170Cys)
|
rs1366894709
|
|
NM_000138.5(FBN1):c.3513C>A (p.Cys1171Ter)
|
rs775417975
|
|
NM_000138.5(FBN1):c.3524_3525del (p.Ile1175fs)
|
rs2141293230
|
|
NM_000138.5(FBN1):c.3533A>G (p.Tyr1178Cys)
|
rs1555398515
|
|
NM_000138.5(FBN1):c.3545G>C (p.Cys1182Ser)
|
|
|
NM_000138.5(FBN1):c.3557A>G (p.Tyr1186Cys)
|
rs1555398511
|
|
NM_000138.5(FBN1):c.3563C>A (p.Ser1188Ter)
|
rs1057520181
|
|
NM_000138.5(FBN1):c.3573T>C (p.Asp1191=)
|
rs150912619
|
|
NM_000138.5(FBN1):c.3575G>A (p.Arg1192Lys)
|
rs751764864
|
|
NM_000138.5(FBN1):c.3583dup (p.Cys1195fs)
|
|
|
NM_000138.5(FBN1):c.3589+11TTTTA[5]
|
rs72158035
|
|
NM_000138.5(FBN1):c.3589+134C>T
|
rs12907671
|
|
NM_000138.5(FBN1):c.3589+50_3589+51insTTTAC
|
rs757366027
|
|
NM_000138.5(FBN1):c.3589+52GTTAT[3]
|
rs72132658
|
|
NM_000138.5(FBN1):c.3589+69TATTT[3]
|
rs1170123917
|
|
NM_000138.5(FBN1):c.3589+6T>C
|
rs766478869
|
|
NM_000138.5(FBN1):c.3596A>G (p.Asp1199Gly)
|
rs794728206
|
|
NM_000138.5(FBN1):c.359A>T (p.Asn120Ile)
|
rs753900024
|
|
NM_000138.5(FBN1):c.3605G>A (p.Ser1202Asn)
|
rs758542279
|
|
NM_000138.5(FBN1):c.3614A>G (p.Asn1205Ser)
|
rs794728207
|
|
NM_000138.5(FBN1):c.3635G>C (p.Cys1212Ser)
|
rs1057522908
|
|
NM_000138.5(FBN1):c.364C>T (p.Arg122Cys)
|
rs137854467
|
|
NM_000138.5(FBN1):c.3656A>G (p.Tyr1219Cys)
|
rs1555398394
|
|
NM_000138.5(FBN1):c.3668G>T (p.Cys1223Phe)
|
rs137854469
|
|
NM_000138.5(FBN1):c.3677G>T (p.Gly1226Val)
|
rs1555398387
|
|
NM_000138.5(FBN1):c.3691C>T (p.Pro1231Ser)
|
|
|
NM_000138.5(FBN1):c.3707G>A (p.Cys1236Tyr)
|
rs1555398377
|
|
NM_000138.5(FBN1):c.3712+1G>A
|
rs794728209
|
|
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn)
|
rs794728208
|
|
NM_000138.5(FBN1):c.3712G>C (p.Asp1238His)
|
rs794728208
|
|
NM_000138.5(FBN1):c.3713-2A>T
|
rs1131691604
|
|
NM_000138.5(FBN1):c.3713A>G (p.Asp1238Gly)
|
|
|
NM_000138.5(FBN1):c.374A>G (p.Asn125Ser)
|
rs2044551186
|
|
NM_000138.5(FBN1):c.3757C>T (p.Gln1253Ter)
|
rs1131691311
|
|
NM_000138.5(FBN1):c.3761G>A (p.Cys1254Tyr)
|
rs1131691805
|
|
NM_000138.5(FBN1):c.3773del (p.Pro1258fs)
|
rs794728343
|
|
NM_000138.5(FBN1):c.3786G>T (p.Arg1262Ser)
|
rs1555398280
|
|
NM_000138.5(FBN1):c.3789C>G (p.Cys1263Trp)
|
rs1057518444
|
|
NM_000138.5(FBN1):c.3794G>C (p.Cys1265Ser)
|
rs1555398279
|
|
NM_000138.5(FBN1):c.3795T>A (p.Cys1265Ter)
|
rs1555398278
|
|
NM_000138.5(FBN1):c.379G>C (p.Gly127Arg)
|
rs1057524165
|
|
NM_000138.5(FBN1):c.3804del (p.Phe1269fs)
|
rs2141289602
|
|
NM_000138.5(FBN1):c.3806T>C (p.Phe1269Ser)
|
|
|
NM_000138.5(FBN1):c.3834T>G (p.Cys1278Trp)
|
rs886039492
|
|
NM_000138.5(FBN1):c.3838+42C>T
|
|
|
NM_000138.5(FBN1):c.3838G>A (p.Asp1280Asn)
|
rs794728210
|
|
NM_000138.5(FBN1):c.3839-1G>T
|
rs794728211
|
|
NM_000138.5(FBN1):c.3839-311T>C
|
rs11634866
|
|
NM_000138.5(FBN1):c.3839-5_3842del
|
rs1555398178
|
|
NM_000138.5(FBN1):c.3851G>A (p.Cys1284Tyr)
|
rs1555398173
|
|
NM_000138.5(FBN1):c.3866A>G (p.Asn1289Ser)
|
rs2141287477
|
|
NM_000138.5(FBN1):c.386del (p.Cys129fs)
|
rs1555405046
|
|
NM_000138.5(FBN1):c.387C>G (p.Cys129Trp)
|
rs1566935514
|
|
NM_000138.5(FBN1):c.3886T>C (p.Cys1296Arg)
|
rs397515797
|
|
NM_000138.5(FBN1):c.3897_3903del (p.Lys1300fs)
|
|
|
NM_000138.5(FBN1):c.3902G>A (p.Gly1301Asp)
|
rs1566908083
|
|
NM_000138.5(FBN1):c.3902G>T (p.Gly1301Val)
|
rs1566908083
|
|
NM_000138.5(FBN1):c.392_401dup (p.Cys134Ter)
|
rs2140718078
|
|
NM_000138.5(FBN1):c.3964+1G>A
|
rs794728212
|
|
NM_000138.5(FBN1):c.3964G>A (p.Asp1322Asn)
|
|
|
NM_000138.5(FBN1):c.3965-3C>G
|
|
|
NM_000138.5(FBN1):c.3974A>C (p.Glu1325Ala)
|
rs794728331
|
|
NM_000138.5(FBN1):c.3977G>A (p.Cys1326Tyr)
|
rs1555397738
|
|
NM_000138.5(FBN1):c.3G>A (p.Met1Ile)
|
rs886039072
|
|
NM_000138.5(FBN1):c.4010C>T (p.Ala1337Val)
|
rs866495806
|
|
NM_000138.5(FBN1):c.401G>A (p.Cys134Tyr)
|
rs1555405043
|
|
NM_000138.5(FBN1):c.4022A>G (p.Asn1341Ser)
|
rs140638
|
|
NM_000138.5(FBN1):c.4024A>C (p.Thr1342Pro)
|
rs2141280212
|
|
NM_000138.5(FBN1):c.4027G>A (p.Ala1343Thr)
|
rs2043404775
|
|
NM_000138.5(FBN1):c.4036_4037insACATTTGAAGCTTCCTGCTGTATTGGTACATACAGCAGGAAGCT (p.Phe1346delinsTyrIleTer)
|
rs1597554086
|
|
NM_000138.5(FBN1):c.4043G>A (p.Cys1348Tyr)
|
rs1555397720
|
|
NM_000138.5(FBN1):c.4050C>A (p.Cys1350Ter)
|
rs201058219
|
|
NM_000138.5(FBN1):c.4061G>A (p.Trp1354Ter)
|
rs1060501039
|
|
NM_000138.5(FBN1):c.4062G>A (p.Trp1354Ter)
|
rs794728215
|
|
NM_000138.5(FBN1):c.4087G>A (p.Asp1363Asn)
|
|
|
NM_000138.5(FBN1):c.4088-17T>C
|
rs1397067049
|
|
NM_000138.5(FBN1):c.4094A>G (p.Asp1365Gly)
|
rs794728217
|
|
NM_000138.5(FBN1):c.4096G>A (p.Glu1366Lys)
|
rs763449629
|
|
NM_000138.5(FBN1):c.4138T>C (p.Cys1380Arg)
|
rs1131691588
|
|
NM_000138.5(FBN1):c.4146T>A (p.Asn1382Lys)
|
rs794728218
|
|
NM_000138.5(FBN1):c.4155A>T (p.Gly1385=)
|
rs2141279769
|
|
NM_000138.5(FBN1):c.4159T>G (p.Tyr1387Asp)
|
rs1555397656
|
|
NM_000138.5(FBN1):c.4160dup (p.Tyr1387Ter)
|
|
|
NM_000138.5(FBN1):c.4163G>C (p.Arg1388Pro)
|
rs749196340
|
|
NM_000138.5(FBN1):c.4163_4164del (p.Arg1388fs)
|
|
|
NM_000138.5(FBN1):c.4166G>C (p.Cys1389Ser)
|
rs1060501026
|
|
NM_000138.5(FBN1):c.4172G>T (p.Cys1391Phe)
|
rs1352478541
|
|
NM_000138.5(FBN1):c.4177_4199del (p.Glu1393fs)
|
rs1566906389
|
|
NM_000138.5(FBN1):c.4189G>A (p.Gly1397Ser)
|
|
|
NM_000138.5(FBN1):c.4194T>C (p.Asp1398=)
|
rs2043401428
|
|
NM_000138.5(FBN1):c.4210+202C>G
|
rs56686382
|
|
NM_000138.5(FBN1):c.4210G>A (p.Asp1404Asn)
|
rs794728220
|
|
NM_000138.5(FBN1):c.4337-2A>G
|
rs794728216
|
|
NM_000138.5(FBN1):c.4337-315G>A
|
rs12907167
|
|
NM_000138.5(FBN1):c.4337-48T>A
|
|
|
NM_000138.5(FBN1):c.4337-55dup
|
rs138034853
|
|
NM_000138.5(FBN1):c.4343A>G (p.Asp1448Gly)
|
rs794728222
|
|
NM_000138.5(FBN1):c.4347G>T (p.Glu1449Asp)
|
rs1555397423
|
|
NM_000138.5(FBN1):c.434G>A (p.Cys145Tyr)
|
rs878853682
|
|
NM_000138.5(FBN1):c.4364T>G (p.Ile1455Ser)
|
rs397515807
|
|
NM_000138.5(FBN1):c.4373T>G (p.Phe1458Cys)
|
|
|
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.4388A>G (p.Asn1463Ser)
|
rs1555397413
|
|
NM_000138.5(FBN1):c.4405del (p.Arg1469fs)
|
rs794728308
|
|
NM_000138.5(FBN1):c.4406G>T (p.Arg1469Leu)
|
rs397515808
|
|
NM_000138.5(FBN1):c.4407_4409dup (p.Cys1470dup)
|
rs1555397404
|
|
NM_000138.5(FBN1):c.4408del (p.Cys1470fs)
|
rs2141275716
|
|
NM_000138.5(FBN1):c.4409G>A (p.Cys1470Tyr)
|
rs2043365537
|
|
NM_000138.5(FBN1):c.4425del (p.Tyr1476fs)
|
rs794728309
|
|
NM_000138.5(FBN1):c.4429G>T (p.Glu1477Ter)
|
rs869025407
|
|
NM_000138.5(FBN1):c.4429dup (p.Glu1477fs)
|
rs794728310
|
|
NM_000138.5(FBN1):c.4437C>G (p.Asp1479Glu)
|
rs370161725
|
|
NM_000138.5(FBN1):c.4447G>A (p.Gly1483Arg)
|
rs794728223
|
|
NM_000138.5(FBN1):c.4460-9C>A
|
rs372753740
|
|
NM_000138.5(FBN1):c.4460A>C (p.Asp1487Ala)
|
rs1555397216
|
|
NM_000138.5(FBN1):c.4467T>A (p.Asn1489Lys)
|
rs193922205
|
|
NM_000138.5(FBN1):c.4489T>C (p.Cys1497Arg)
|
rs1555397213
|
|
NM_000138.5(FBN1):c.4504T>C (p.Cys1502Arg)
|
rs2141273019
|
|
NM_000138.5(FBN1):c.4516C>T (p.Pro1506Ser)
|
rs794728224
|
|
NM_000138.5(FBN1):c.4520G>A (p.Gly1507Asp)
|
rs794728225
|
|
NM_000138.5(FBN1):c.4531_4534del (p.Cys1511fs)
|
rs1555397206
|
|
NM_000138.5(FBN1):c.4532G>A (p.Cys1511Tyr)
|
rs1060501074
|
|
NM_000138.5(FBN1):c.4538G>A (p.Cys1513Tyr)
|
rs1555397204
|
|
NM_000138.5(FBN1):c.4539C>G (p.Cys1513Trp)
|
rs1555397203
|
|
NM_000138.5(FBN1):c.455G>A (p.Ser152Asn)
|
rs1288527435
|
|
NM_000138.5(FBN1):c.4561C>A (p.Pro1521Thr)
|
rs794728226
|
|
NM_000138.5(FBN1):c.4567C>T (p.Arg1523Ter)
|
rs397515812
|
|
NM_000138.5(FBN1):c.4570G>A (p.Val1524Ile)
|
rs2043340600
|
|
NM_000138.5(FBN1):c.4575del (p.Cys1526fs)
|
rs1555397198
|
|
NM_000138.5(FBN1):c.4576T>C (p.Cys1526Arg)
|
|
|
NM_000138.5(FBN1):c.4582+4del
|
rs2141272841
|
|
NM_000138.5(FBN1):c.4582+64A>G
|
rs2279235
|
|
NM_000138.5(FBN1):c.4583-9G>A
|
rs2043338449
|
|
NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys)
|
rs111401431
|
|
NM_000138.5(FBN1):c.4612A>G (p.Ile1538Val)
|
rs2043337939
|
|
NM_000138.5(FBN1):c.4615C>T (p.Arg1539Ter)
|
rs111231312
|
|
NM_000138.5(FBN1):c.461G>C (p.Cys154Ser)
|
rs1057521103
|
|
NM_000138.5(FBN1):c.4621C>T (p.Arg1541Ter)
|
rs794728228
|
|
NM_000138.5(FBN1):c.4648A>T (p.Ser1550Cys)
|
rs794728229
|
|
NM_000138.5(FBN1):c.466A>G (p.Asn156Asp)
|
rs746352371
|
|
NM_000138.5(FBN1):c.466_469del (p.Asn156fs)
|
rs1085307490
|
|
NM_000138.5(FBN1):c.4685G>A (p.Cys1562Tyr)
|
|
|
NM_000138.5(FBN1):c.4688G>C (p.Cys1563Ser)
|
rs1131691871
|
|
NM_000138.5(FBN1):c.4704A>T (p.Lys1568Asn)
|
rs193922208
|
|
NM_000138.5(FBN1):c.4715C>A (p.Thr1572Asn)
|
|
|
NM_000138.5(FBN1):c.472G>A (p.Gly158Arg)
|
rs1555404812
|
|
NM_000138.5(FBN1):c.4745C>T (p.Thr1582Ile)
|
|
|
NM_000138.5(FBN1):c.4747+141del
|
rs3214935
|
|
NM_000138.5(FBN1):c.4747+3A>C
|
rs1555397145
|
|
NM_000138.5(FBN1):c.4748-130G>C
|
rs75456997
|
|
NM_000138.5(FBN1):c.4748-77T>G
|
rs55694948
|
|
NM_000138.5(FBN1):c.4759del (p.Ile1587fs)
|
rs1057518188
|
|
NM_000138.5(FBN1):c.4786C>T (p.Arg1596Ter)
|
rs113871094
|
|
NM_000138.5(FBN1):c.4816+2T>C
|
rs1597547226
|
|
NM_000138.5(FBN1):c.4816+3A>G
|
|
|
NM_000138.5(FBN1):c.4817-1G>A
|
rs2141269787
|
|
NM_000138.5(FBN1):c.4831C>T (p.Gln1611Ter)
|
rs1555397004
|
|
NM_000138.5(FBN1):c.4840C>T (p.Pro1614Ser)
|
|
|
NM_000138.5(FBN1):c.484G>T (p.Ala162Ser)
|
rs193922210
|
|
NM_000138.5(FBN1):c.4863A>G (p.Lys1621=)
|
rs2043314687
|
|
NM_000138.5(FBN1):c.4888C>T (p.Gln1630Ter)
|
rs794728231
|
|
NM_000138.5(FBN1):c.4904C>A (p.Thr1635Asn)
|
rs1460284193
|
|
NM_000138.5(FBN1):c.4925A>G (p.Asp1642Gly)
|
rs1597546984
|
|
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.4936T>A (p.Cys1646Ser)
|
rs1064793115
|
|
NM_000138.5(FBN1):c.4936T>G (p.Cys1646Gly)
|
rs1064793115
|
|
NM_000138.5(FBN1):c.4937G>A (p.Cys1646Tyr)
|
rs397515814
|
|
NM_000138.5(FBN1):c.493C>T (p.Arg165Ter)
|
rs113905529
|
|
NM_000138.5(FBN1):c.4942+101A>T
|
rs56101864
|
|
NM_000138.5(FBN1):c.4942+3A>G
|
rs2043313628
|
|
NM_000138.5(FBN1):c.4942+4A>G
|
rs397515815
|
|
NM_000138.5(FBN1):c.4943-2A>G
|
rs2141267795
|
|
NM_000138.5(FBN1):c.494G>C (p.Arg165Pro)
|
rs1060501079
|
|
NM_000138.5(FBN1):c.4981G>C (p.Gly1661Arg)
|
rs2043300995
|
|
NM_000138.5(FBN1):c.4984A>T (p.Thr1662Ser)
|
rs1471557498
|
|
NM_000138.5(FBN1):c.4998C>T (p.Thr1666=)
|
rs141925790
|
|
NM_000138.5(FBN1):c.5009A>G (p.Tyr1670Cys)
|
rs1566903532
|
|
NM_000138.5(FBN1):c.5014T>G (p.Cys1672Gly)
|
rs112930491
|
|
NM_000138.5(FBN1):c.5015G>A (p.Cys1672Tyr)
|
rs140627
|
|
NM_000138.5(FBN1):c.5016T>G (p.Cys1672Trp)
|
rs1555396848
|
|
NM_000138.5(FBN1):c.5021G>T (p.Cys1674Phe)
|
rs794728233
|
|
NM_000138.5(FBN1):c.503G>T (p.Cys168Phe)
|
rs1555404803
|
|
NM_000138.5(FBN1):c.5053AAT[1] (p.Asn1686del)
|
rs2141267592
|
|
NM_000138.5(FBN1):c.5059T>C (p.Cys1687Arg)
|
rs2141267582
|
|
NM_000138.5(FBN1):c.5060G>T (p.Cys1687Phe)
|
|
|
NM_000138.5(FBN1):c.5065+1G>C
|
rs1296209846
|
|
NM_000138.5(FBN1):c.5065+1G>T
|
rs1296209846
|
|
NM_000138.5(FBN1):c.5066-12C>A
|
rs531105331
|
|
NM_000138.5(FBN1):c.5066-12C>T
|
rs531105331
|
|
NM_000138.5(FBN1):c.5066-13A>T
|
rs1167489368
|
|
NM_000138.5(FBN1):c.5066-14dup
|
rs3833018
|
|
NM_000138.5(FBN1):c.5066-2A>G
|
|
|
NM_000138.5(FBN1):c.5073AAG[1] (p.Arg1692del)
|
rs1555396789
|
|
NM_000138.5(FBN1):c.5095T>G (p.Tyr1699Asp)
|
|
|
NM_000138.5(FBN1):c.5097C>G (p.Tyr1699Ter)
|
rs368979510
|
|
NM_000138.5(FBN1):c.5099A>G (p.Tyr1700Cys)
|
rs387906626
|
|
NM_000138.5(FBN1):c.510C>G (p.Tyr170Ter)
|
rs111671429
|
|
NM_000138.5(FBN1):c.5120A>G (p.Asp1707Gly)
|
|
|
NM_000138.5(FBN1):c.5147AGA[1] (p.Lys1717del)
|
rs2043292746
|
|
NM_000138.5(FBN1):c.5158T>C (p.Cys1720Arg)
|
rs1597545230
|
|
NM_000138.5(FBN1):c.5177G>A (p.Gly1726Asp)
|
rs1064797059
|
|
NM_000138.5(FBN1):c.5183C>T (p.Ala1728Val)
|
rs1131691804
|
|
NM_000138.5(FBN1):c.5185T>C (p.Trp1729Arg)
|
rs1555396762
|
|
NM_000138.5(FBN1):c.5197T>C (p.Cys1733Arg)
|
rs794728235
|
|
NM_000138.5(FBN1):c.5197T>G (p.Cys1733Gly)
|
rs794728235
|
|
NM_000138.5(FBN1):c.5203dup (p.Gln1735fs)
|
rs1555396760
|
|
NM_000138.5(FBN1):c.5208T>A (p.Cys1736Ter)
|
rs794728234
|
|
NM_000138.5(FBN1):c.5218A>G (p.Ser1740Gly)
|
rs2141266497
|
|
NM_000138.5(FBN1):c.5219_5224+1dup
|
rs1555396754
|
|
NM_000138.5(FBN1):c.5225-3C>A
|
rs876657810
|
|
NM_000138.5(FBN1):c.5236A>C (p.Thr1746Pro)
|
|
|
NM_000138.5(FBN1):c.523C>T (p.Pro175Ser)
|
rs891185586
|
|
NM_000138.5(FBN1):c.5244_5245del (p.Cys1748fs)
|
rs1555396636
|
|
NM_000138.5(FBN1):c.5250T>G (p.Ser1750Arg)
|
rs1131692052
|
|
NM_000138.5(FBN1):c.5256G>T (p.Arg1752Ser)
|
rs1597543480
|
|
NM_000138.5(FBN1):c.5270T>A (p.Ile1757Asn)
|
rs2141264003
|
|
NM_000138.5(FBN1):c.5278T>G (p.Tyr1760Asp)
|
|
|
NM_000138.5(FBN1):c.5284G>A (p.Gly1762Ser)
|
rs387906623
|
|
NM_000138.5(FBN1):c.5285G>T (p.Gly1762Val)
|
rs1057524697
|
|
NM_000138.5(FBN1):c.5294T>G (p.Val1765Gly)
|
rs2141263957
|
|
NM_000138.5(FBN1):c.5296+2T>G
|
|
|
NM_000138.5(FBN1):c.5296+5G>A
|
rs1566902515
|
|
NM_000138.5(FBN1):c.5297-109AC[15]
|
rs3074895
|
|
NM_000138.5(FBN1):c.5297-109AC[16]
|
rs3074895
|
|
NM_000138.5(FBN1):c.5297-109AC[17]
|
rs3074895
|
|
NM_000138.5(FBN1):c.5297-109AC[19]
|
rs3074895
|
|
NM_000138.5(FBN1):c.5297-109AC[20]
|
rs3074895
|
|
NM_000138.5(FBN1):c.5297-109AC[22]
|
rs3074895
|
|
NM_000138.5(FBN1):c.5330G>A (p.Cys1777Tyr)
|
rs1060501069
|
|
NM_000138.5(FBN1):c.5345G>A (p.Cys1782Tyr)
|
rs1555396429
|
|
NM_000138.5(FBN1):c.5358T>C (p.Val1786=)
|
rs1057521207
|
|
NM_000138.5(FBN1):c.5360G>A (p.Gly1787Asp)
|
rs2141260386
|
|
NM_000138.5(FBN1):c.5368C>T (p.Arg1790Ter)
|
rs113249837
|
|
NM_000138.5(FBN1):c.5369G>A (p.Arg1790Gln)
|
rs1555396428
|
|
NM_000138.5(FBN1):c.5371T>C (p.Cys1791Arg)
|
rs1555396427
|
|
NM_000138.5(FBN1):c.5377T>C (p.Cys1793Arg)
|
rs1555396424
|
|
NM_000138.5(FBN1):c.538+12del
|
rs755209856
|
|
NM_000138.5(FBN1):c.5387G>T (p.Gly1796Val)
|
rs2043240309
|
|
NM_000138.5(FBN1):c.539-1G>A
|
rs794728161
|
|
NM_000138.5(FBN1):c.539-1G>T
|
rs794728161
|
|
NM_000138.5(FBN1):c.539-2A>G
|
rs2141358521
|
|
NM_000138.5(FBN1):c.5395T>C (p.Tyr1799His)
|
|
|
NM_000138.5(FBN1):c.5404A>C (p.Lys1802Gln)
|
rs2141260313
|
|
NM_000138.5(FBN1):c.5409G>T (p.Leu1803Phe)
|
rs906226501
|
|
NM_000138.5(FBN1):c.5422+157dup
|
rs201118654
|
|
NM_000138.5(FBN1):c.5422+1G>A
|
rs1064793116
|
|
NM_000138.5(FBN1):c.5423-30_5423-28del
|
rs56354352
|
|
NM_000138.5(FBN1):c.5431G>A (p.Glu1811Lys)
|
rs761857514
|
|
NM_000138.5(FBN1):c.5432A>G (p.Glu1811Gly)
|
rs2141256116
|
|
NM_000138.5(FBN1):c.5434T>G (p.Cys1812Gly)
|
rs1597537935
|
|
NM_000138.5(FBN1):c.5440A>G (p.Asn1814Asp)
|
rs1257299340
|
|
NM_000138.5(FBN1):c.5466C>G (p.Ala1822=)
|
|
|
NM_000138.5(FBN1):c.5470T>C (p.Cys1824Arg)
|
rs1131691478
|
|
NM_000138.5(FBN1):c.5504G>A (p.Cys1835Tyr)
|
rs111929350
|
|
NM_000138.5(FBN1):c.5513G>A (p.Gly1838Asp)
|
rs78970689
|
|
NM_000138.5(FBN1):c.5513G>C (p.Gly1838Ala)
|
rs78970689
|
|
NM_000138.5(FBN1):c.5541C>A (p.Cys1847Ter)
|
rs1597537698
|
|
NM_000138.5(FBN1):c.5541dup (p.Asn1848fs)
|
rs2043209125
|
|
NM_000138.5(FBN1):c.5545+14del
|
rs748182794
|
|
NM_000138.5(FBN1):c.5557T>C (p.Cys1853Arg)
|
rs1555395990
|
|
NM_000138.5(FBN1):c.5566A>G (p.Ile1856Val)
|
rs2141252254
|
|
NM_000138.5(FBN1):c.5595C>A (p.Cys1865Ter)
|
rs1057520601
|
|
NM_000138.5(FBN1):c.5615T>C (p.Phe1872Ser)
|
|
|
NM_000138.5(FBN1):c.5626T>C (p.Cys1876Arg)
|
rs1555395980
|
|
NM_000138.5(FBN1):c.5628C>A (p.Cys1876Ter)
|
|
|
NM_000138.5(FBN1):c.5638T>G (p.Phe1880Val)
|
rs1555395977
|
|
NM_000138.5(FBN1):c.5643A>C (p.Lys1881Asn)
|
rs1555395975
|
|
NM_000138.5(FBN1):c.565G>T (p.Val189Leu)
|
rs2044026712
|
|
NM_000138.5(FBN1):c.5665T>C (p.Cys1889Arg)
|
|
|
NM_000138.5(FBN1):c.5666G>A (p.Cys1889Tyr)
|
rs1566899500
|
|
NM_000138.5(FBN1):c.5671+28dup
|
rs55649234
|
|
NM_000138.5(FBN1):c.5672-1G>C
|
rs1555395849
|
|
NM_000138.5(FBN1):c.5672-3T>C
|
rs193922217
|
|
NM_000138.5(FBN1):c.5672-4C>G
|
|
|
NM_000138.5(FBN1):c.5672-6T>A
|
rs1555395850
|
|
NM_000138.5(FBN1):c.5672-87A>G
|
rs1060501029
|
|
NM_000138.5(FBN1):c.5672A>G (p.Asp1891Gly)
|
rs2043163843
|
|
NM_000138.5(FBN1):c.5680G>A (p.Glu1894Lys)
|
rs1057521101
|
|
NM_000138.5(FBN1):c.5686del (p.Glu1896fs)
|
rs1064793374
|
|
NM_000138.5(FBN1):c.568A>C (p.Ile190Leu)
|
rs147107676
|
|
NM_000138.5(FBN1):c.5692G>T (p.Asp1898Tyr)
|
|
|
NM_000138.5(FBN1):c.5699G>A (p.Cys1900Tyr)
|
rs794728237
|
|
NM_000138.5(FBN1):c.5700T>A (p.Cys1900Ter)
|
rs794728236
|
|
NM_000138.5(FBN1):c.5723C>T (p.Thr1908Ile)
|
rs1304811982
|
|
NM_000138.5(FBN1):c.5726T>C (p.Ile1909Thr)
|
rs794728333
|
|
NM_000138.5(FBN1):c.5729G>A (p.Gly1910Asp)
|
rs1566898786
|
|
NM_000138.5(FBN1):c.5734T>C (p.Phe1912Leu)
|
rs2141250347
|
|
NM_000138.5(FBN1):c.5735del (p.Phe1912fs)
|
rs1064793633
|
|
NM_000138.5(FBN1):c.5744G>A (p.Arg1915His)
|
|
|
NM_000138.5(FBN1):c.5746T>C (p.Cys1916Arg)
|
rs794728238
|
|
NM_000138.5(FBN1):c.5755G>A (p.Gly1919Ser)
|
rs867549163
|
|
NM_000138.5(FBN1):c.5756G>C (p.Gly1919Ala)
|
rs2141250311
|
|
NM_000138.5(FBN1):c.5767T>C (p.Ser1923Pro)
|
rs794728239
|
|
NM_000138.5(FBN1):c.5783G>A (p.Cys1928Tyr)
|
rs587782947
|
|
NM_000138.5(FBN1):c.5788+1G>T
|
rs1555395819
|
|
NM_000138.5(FBN1):c.5788+4C>A
|
rs577301285
|
|
NM_000138.5(FBN1):c.5788+4C>T
|
rs577301285
|
|
NM_000138.5(FBN1):c.5789-8_5793del
|
rs1064793643
|
|
NM_000138.5(FBN1):c.5789A>G (p.Asp1930Gly)
|
|
|
NM_000138.5(FBN1):c.5797G>A (p.Glu1933Lys)
|
rs2141249307
|
|
NM_000138.5(FBN1):c.5801G>A (p.Cys1934Tyr)
|
rs794728240
|
|
NM_000138.5(FBN1):c.5817del (p.Asn1940fs)
|
rs794728311
|
|
NM_000138.5(FBN1):c.581T>C (p.Met194Thr)
|
|
|
NM_000138.5(FBN1):c.5825G>T (p.Cys1942Phe)
|
rs794728241
|
|
NM_000138.5(FBN1):c.5830_5831dup (p.Asn1944fs)
|
rs2043151619
|
|
NM_000138.5(FBN1):c.5839T>C (p.Cys1947Arg)
|
rs1131691938
|
|
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.5873G>A (p.Cys1958Tyr)
|
rs2141249167
|
|
NM_000138.5(FBN1):c.5893del (p.Ala1965fs)
|
rs794728312
|
|
NM_000138.5(FBN1):c.5894C>G (p.Ala1965Gly)
|
|
|
NM_000138.5(FBN1):c.5898_5912del (p.Asp1967_Cys1971del)
|
rs1555395744
|
|
NM_000138.5(FBN1):c.5905del (p.Arg1969fs)
|
rs1566898399
|
|
NM_000138.5(FBN1):c.5917+193AT[4]
|
rs529269961
|
|
NM_000138.5(FBN1):c.5917+1G>A
|
rs363808
|
|
NM_000138.5(FBN1):c.5917+221AT[4]
|
rs549747216
|
|
NM_000138.5(FBN1):c.5917+221AT[6]
|
rs549747216
|
|
NM_000138.5(FBN1):c.5917+221_5917+232del
|
rs199516630
|
|
NM_000138.5(FBN1):c.5917+241AT[5]
|
rs931622804
|
|
NM_000138.5(FBN1):c.5917G>A (p.Asp1973Asn)
|
rs1597532579
|
|
NM_000138.5(FBN1):c.5918-270_5918-269insTT
|
rs10656611
|
|
NM_000138.5(FBN1):c.5918A>G (p.Asp1973Gly)
|
rs794728242
|
|
NM_000138.5(FBN1):c.5942C>A (p.Pro1981His)
|
rs1555395662
|
|
NM_000138.5(FBN1):c.5957dup (p.Gly1987fs)
|
rs794728313
|
|
NM_000138.5(FBN1):c.5959G>C (p.Gly1987Arg)
|
rs727504642
|
|
NM_000138.5(FBN1):c.5960G>A (p.Gly1987Asp)
|
rs2043140093
|
|
NM_000138.5(FBN1):c.5971A>C (p.Asn1991His)
|
rs794728243
|
|
NM_000138.5(FBN1):c.5971A>T (p.Asn1991Tyr)
|
rs794728243
|
|
NM_000138.5(FBN1):c.5993G>A (p.Cys1998Tyr)
|
rs1085307531
|
|
NM_000138.5(FBN1):c.5999G>T (p.Cys2000Phe)
|
rs1555395645
|
|
NM_000138.5(FBN1):c.6005C>T (p.Pro2002Leu)
|
rs1566898093
|
|
NM_000138.5(FBN1):c.6005del (p.Pro2002fs)
|
rs1064793989
|
|
NM_000138.5(FBN1):c.6032G>A (p.Cys2011Tyr)
|
rs886038967
|
|
NM_000138.5(FBN1):c.6037+1G>A
|
rs1064796636
|
|
NM_000138.5(FBN1):c.6037+2_6037+24del
|
rs1555395636
|
|
NM_000138.5(FBN1):c.6042TGA[1] (p.Asp2015del)
|
rs2043117709
|
|
NM_000138.5(FBN1):c.6046G>A (p.Glu2016Lys)
|
rs2141245531
|
|
NM_000138.5(FBN1):c.6048G>T (p.Glu2016Asp)
|
|
|
NM_000138.5(FBN1):c.6069T>A (p.Ile2023=)
|
rs778537464
|
|
NM_000138.5(FBN1):c.6085T>A (p.Cys2029Ser)
|
rs1555395477
|
|
NM_000138.5(FBN1):c.6086G>A (p.Cys2029Tyr)
|
rs1057517855
|
|
NM_000138.5(FBN1):c.6094A>G (p.Thr2032Ala)
|
|
|
NM_000138.5(FBN1):c.6112T>G (p.Cys2038Gly)
|
rs1064796731
|
|
NM_000138.5(FBN1):c.6119_6120del (p.Cys2040fs)
|
rs1057517851
|
|
NM_000138.5(FBN1):c.6122C>T (p.Pro2041Leu)
|
|
|
NM_000138.5(FBN1):c.6129del (p.Ser2045fs)
|
rs794728314
|
|
NM_000138.5(FBN1):c.6140C>T (p.Ser2047Phe)
|
rs1060501046
|
|
NM_000138.5(FBN1):c.6141C>T (p.Ser2047=)
|
rs2141245369
|
|
NM_000138.5(FBN1):c.6164-2A>G
|
rs794728244
|
|
NM_000138.5(FBN1):c.6164-2A>T
|
rs794728244
|
|
NM_000138.5(FBN1):c.6169C>T (p.Arg2057Ter)
|
rs763091520
|
|
NM_000138.5(FBN1):c.6185A>G (p.Tyr2062Cys)
|
rs1555395266
|
|
NM_000138.5(FBN1):c.6186T>G (p.Tyr2062Ter)
|
rs764144407
|
|
NM_000138.5(FBN1):c.6206del (p.Lys2069fs)
|
rs1057518034
|
|
NM_000138.5(FBN1):c.6208T>C (p.Cys2070Arg)
|
|
|
NM_000138.5(FBN1):c.6211TCA[1] (p.Ser2072del)
|
rs794728316
|
|
NM_000138.5(FBN1):c.6242A>G (p.Gln2081Arg)
|
|
|
NM_000138.5(FBN1):c.6244G>T (p.Glu2082Ter)
|
rs1052480459
|
|
NM_000138.5(FBN1):c.6251G>T (p.Cys2084Phe)
|
rs794728245
|
|
NM_000138.5(FBN1):c.6274T>C (p.Trp2092Arg)
|
rs794728246
|
|
NM_000138.5(FBN1):c.6277G>A (p.Gly2093Arg)
|
rs1064793117
|
|
NM_000138.5(FBN1):c.6296G>T (p.Cys2099Phe)
|
rs1131691803
|
|
NM_000138.5(FBN1):c.6297C>G (p.Cys2099Trp)
|
|
|
NM_000138.5(FBN1):c.6299C>T (p.Pro2100Leu)
|
rs1057524215
|
|
NM_000138.5(FBN1):c.629G>A (p.Cys210Tyr)
|
rs1085307468
|
|
NM_000138.5(FBN1):c.6313+2T>C
|
rs1555395257
|
|
NM_000138.5(FBN1):c.6313+3A>G
|
rs1555395256
|
|
NM_000138.5(FBN1):c.6313+5G>A
|
rs878853688
|
|
NM_000138.5(FBN1):c.6313G>C (p.Glu2105Gln)
|
rs794728247
|
|
NM_000138.5(FBN1):c.6314-2A>G
|
|
|
NM_000138.5(FBN1):c.6314A>T (p.Glu2105Val)
|
rs1165109120
|
|
NM_000138.5(FBN1):c.6322C>T (p.Arg2108Cys)
|
rs1246984265
|
|
NM_000138.5(FBN1):c.6325C>T (p.Gln2109Ter)
|
rs1555395229
|
|
NM_000138.5(FBN1):c.6332G>A (p.Cys2111Tyr)
|
rs1131691467
|
|
NM_000138.5(FBN1):c.6339T>C (p.Tyr2113=)
|
|
|
NM_000138.5(FBN1):c.6349A>G (p.Ile2117Val)
|
rs572754741
|
|
NM_000138.5(FBN1):c.6355G>A (p.Val2119Met)
|
rs876660976
|
|
NM_000138.5(FBN1):c.635_636del (p.Thr212fs)
|
rs1566922422
|
|
NM_000138.5(FBN1):c.6368A>T (p.Asp2123Val)
|
|
|
NM_000138.5(FBN1):c.6370T>C (p.Ser2124Pro)
|
|
|
NM_000138.5(FBN1):c.6379+2T>C
|
rs113453570
|
|
NM_000138.5(FBN1):c.6379+5G>C
|
rs1085307875
|
|
NM_000138.5(FBN1):c.6379+5G>T
|
|
|
NM_000138.5(FBN1):c.6379+9C>T
|
rs1555395223
|
|
NM_000138.5(FBN1):c.6380-2A>C
|
rs886041482
|
|
NM_000138.5(FBN1):c.6380-87C>G
|
|
|
NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys)
|
rs794728334
|
|
NM_000138.5(FBN1):c.6398A>G (p.Glu2133Gly)
|
rs2141240476
|
|
NM_000138.5(FBN1):c.6406_6407dup (p.Cys2137fs)
|
rs794728317
|
|
NM_000138.5(FBN1):c.640G>A (p.Gly214Ser)
|
rs794728162
|
|
NM_000138.5(FBN1):c.6418G>A (p.Gly2140Arg)
|
rs794728249
|
|
NM_000138.5(FBN1):c.6419G>A (p.Gly2140Glu)
|
rs1064793118
|
|
NM_000138.5(FBN1):c.641G>A (p.Gly214Asp)
|
|
|
NM_000138.5(FBN1):c.6425G>A (p.Cys2142Tyr)
|
rs794728335
|
|
NM_000138.5(FBN1):c.6431A>G (p.Asn2144Ser)
|
rs137854461
|
|
NM_000138.5(FBN1):c.643C>T (p.Arg215Ter)
|
rs111687884
|
|
NM_000138.5(FBN1):c.6446A>T (p.Tyr2149Phe)
|
rs113080385
|
|
NM_000138.5(FBN1):c.6449G>A (p.Arg2150His)
|
|
|
NM_000138.5(FBN1):c.6449G>T (p.Arg2150Leu)
|
rs794728250
|
|
NM_000138.5(FBN1):c.6450_6454del (p.Cys2151fs)
|
rs1555395193
|
|
NM_000138.5(FBN1):c.6453C>G (p.Cys2151Trp)
|
rs794728251
|
|
NM_000138.5(FBN1):c.6453C>T (p.Cys2151=)
|
rs794728251
|
|
NM_000138.5(FBN1):c.6459T>C (p.Cys2153=)
|
rs2141240349
|
|
NM_000138.5(FBN1):c.645A>T (p.Arg215=)
|
rs200062771
|
|
NM_000138.5(FBN1):c.6470A>G (p.Tyr2157Cys)
|
rs2043077613
|
|
NM_000138.5(FBN1):c.6473T>C (p.Ile2158Thr)
|
rs751560904
|
|
NM_000138.5(FBN1):c.6487G>T (p.Glu2163Ter)
|
rs1555395191
|
|
NM_000138.5(FBN1):c.6496G>A (p.Asp2166Asn)
|
rs794728252
|
|
NM_000138.5(FBN1):c.6496G>C (p.Asp2166His)
|
rs794728252
|
|
NM_000138.5(FBN1):c.6496G>T (p.Asp2166Tyr)
|
rs794728252
|
|
NM_000138.5(FBN1):c.6503A>G (p.Asp2168Gly)
|
rs1555395015
|
|
NM_000138.5(FBN1):c.6508T>C (p.Cys2170Arg)
|
rs1597523873
|
|
NM_000138.5(FBN1):c.6524C>T (p.Pro2175Leu)
|
rs2141237135
|
|
NM_000138.5(FBN1):c.6541T>C (p.Cys2181Arg)
|
rs1131691373
|
|
NM_000138.5(FBN1):c.6551_6552dup (p.Ile2185Ter)
|
rs1555395009
|
|
NM_000138.5(FBN1):c.6591G>T (p.Glu2197Asp)
|
rs2141237031
|
|
NM_000138.5(FBN1):c.6596del (p.Gly2199fs)
|
rs1555395004
|
|
NM_000138.5(FBN1):c.6603G>A (p.Met2201Ile)
|
|
|
NM_000138.5(FBN1):c.6616+1G>A
|
rs1064793980
|
|
NM_000138.5(FBN1):c.6616+241A>G
|
rs2288303
|
|
NM_000138.5(FBN1):c.6617A>G (p.Asp2206Gly)
|
rs1597522584
|
|
NM_000138.5(FBN1):c.6625G>T (p.Glu2209Ter)
|
rs886041859
|
|
NM_000138.5(FBN1):c.6626A>T (p.Glu2209Val)
|
rs1060501072
|
|
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.6630T>A (p.Cys2210Ter)
|
rs397515836
|
|
NM_000138.5(FBN1):c.6634del (p.Gln2212fs)
|
rs1597522557
|
|
NM_000138.5(FBN1):c.6649T>G (p.Cys2217Gly)
|
|
|
NM_000138.5(FBN1):c.6650G>A (p.Cys2217Tyr)
|
rs794728254
|
|
NM_000138.5(FBN1):c.6656T>G (p.Phe2219Cys)
|
rs397515837
|
|
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.6682dup (p.Tyr2228fs)
|
rs886044547
|
|
NM_000138.5(FBN1):c.6683A>G (p.Tyr2228Cys)
|
rs1555394908
|
|
NM_000138.5(FBN1):c.6689G>A (p.Cys2230Tyr)
|
rs1555394904
|
|
NM_000138.5(FBN1):c.6691A>C (p.Lys2231Gln)
|
rs1207479679
|
|
NM_000138.5(FBN1):c.6695G>C (p.Cys2232Ser)
|
rs1060501054
|
|
NM_000138.5(FBN1):c.6697C>T (p.Pro2233Ser)
|
rs794728255
|
|
NM_000138.5(FBN1):c.6706T>C (p.Tyr2236His)
|
|
|
NM_000138.5(FBN1):c.6707A>G (p.Tyr2236Cys)
|
rs368439899
|
|
NM_000138.5(FBN1):c.6707A>T (p.Tyr2236Phe)
|
rs368439899
|
|
NM_000138.5(FBN1):c.6722_6725dup (p.Arg2243fs)
|
rs794728318
|
|
NM_000138.5(FBN1):c.6732G>T (p.Met2244Ile)
|
rs780960909
|
|
NM_000138.5(FBN1):c.6739+5G>A
|
rs2141234929
|
|
NM_000138.5(FBN1):c.6740-10T>G
|
rs1456822662
|
|
NM_000138.5(FBN1):c.6740-1G>A
|
rs1555394781
|
|
NM_000138.5(FBN1):c.6740A>G (p.Asp2247Gly)
|
rs1060501032
|
|
NM_000138.5(FBN1):c.6747del (p.Asp2249fs)
|
|
|
NM_000138.5(FBN1):c.6748G>A (p.Glu2250Lys)
|
rs1597520789
|
|
NM_000138.5(FBN1):c.6751T>G (p.Cys2251Gly)
|
rs112836174
|
|
NM_000138.5(FBN1):c.6752G>A (p.Cys2251Tyr)
|
rs794728256
|
|
NM_000138.5(FBN1):c.6772T>C (p.Cys2258Arg)
|
rs1057520617
|
|
NM_000138.5(FBN1):c.6784C>T (p.Gln2262Ter)
|
rs1060501023
|
|
NM_000138.5(FBN1):c.6787A>C (p.Met2263Leu)
|
rs2043017749
|
|
NM_000138.5(FBN1):c.6791A>G (p.Glu2264Gly)
|
rs2141232588
|
|
NM_000138.5(FBN1):c.6793T>C (p.Cys2265Arg)
|
|
|
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.6800A>C (p.Asn2267Thr)
|
|
|
NM_000138.5(FBN1):c.6801C>G (p.Asn2267Lys)
|
rs886051245
|
|
NM_000138.5(FBN1):c.6806T>A (p.Ile2269Asn)
|
rs193922228
|
|
NM_000138.5(FBN1):c.6815A>G (p.Tyr2272Cys)
|
rs2141232534
|
|
NM_000138.5(FBN1):c.6816T>G (p.Tyr2272Ter)
|
rs2043017379
|
|
NM_000138.5(FBN1):c.6820T>C (p.Cys2274Arg)
|
rs869025412
|
|
NM_000138.5(FBN1):c.6832C>G (p.Pro2278Ala)
|
rs363835
|
|
NM_000138.5(FBN1):c.6832C>T (p.Pro2278Ser)
|
rs363835
|
|
NM_000138.5(FBN1):c.6854A>T (p.Asp2285Val)
|
rs1160071679
|
|
NM_000138.5(FBN1):c.6859G>A (p.Glu2287Lys)
|
rs551736585
|
|
NM_000138.5(FBN1):c.6866G>A (p.Cys2289Tyr)
|
rs1566894230
|
|
NM_000138.5(FBN1):c.6871G>A (p.Asp2291Asn)
|
rs794728257
|
|
NM_000138.5(FBN1):c.6872-14A>G
|
rs1064793119
|
|
NM_000138.5(FBN1):c.6872-2A>G
|
rs1064794139
|
|
NM_000138.5(FBN1):c.6872-4A>G
|
rs1207038649
|
|
NM_000138.5(FBN1):c.6872-93G>A
|
rs559172589
|
|
NM_000138.5(FBN1):c.6872-9A>G
|
rs794728259
|
|
NM_000138.5(FBN1):c.6904T>A (p.Cys2302Ser)
|
rs886039092
|
|
NM_000138.5(FBN1):c.6923T>C (p.Leu2308Pro)
|
rs794728260
|
|
NM_000138.5(FBN1):c.6926A>G (p.Asn2309Ser)
|
rs2141229964
|
|
NM_000138.5(FBN1):c.6930C>T (p.Thr2310=)
|
rs767319373
|
|
NM_000138.5(FBN1):c.6943A>G (p.Thr2315Ala)
|
rs1597518834
|
|
NM_000138.5(FBN1):c.6953G>A (p.Cys2318Tyr)
|
rs1555394626
|
|
NM_000138.5(FBN1):c.6959A>T (p.Asp2320Val)
|
rs794728261
|
|
NM_000138.5(FBN1):c.695G>C (p.Arg232Pro)
|
|
|
NM_000138.5(FBN1):c.697C>A (p.Arg233Ser)
|
rs397515841
|
|
NM_000138.5(FBN1):c.6982C>T (p.Gln2328Ter)
|
rs371097218
|
|
NM_000138.5(FBN1):c.6997+18C>T
|
rs148116316
|
|
NM_000138.5(FBN1):c.6997+2T>C
|
rs1131691730
|
|
NM_000138.5(FBN1):c.6997+40C>T
|
rs2141229721
|
|
NM_000138.5(FBN1):c.6997+4A>C
|
rs727503055
|
|
NM_000138.5(FBN1):c.6997+5G>A
|
rs2042997205
|
|
NM_000138.5(FBN1):c.6998-12T>A
|
rs2141229182
|
|
NM_000138.5(FBN1):c.6998-40del
|
rs193922229
|
|
NM_000138.5(FBN1):c.7003C>G (p.Arg2335Gly)
|
rs794728262
|
|
NM_000138.5(FBN1):c.7004G>A (p.Arg2335Gln)
|
rs761248433
|
|
NM_000138.5(FBN1):c.700_702delinsTGT (p.Gly234Cys)
|
rs794728293
|
|
NM_000138.5(FBN1):c.7016G>A (p.Cys2339Tyr)
|
rs1555394580
|
|
NM_000138.5(FBN1):c.7016_7031dup (p.Gln2345fs)
|
rs1597518081
|
|
NM_000138.5(FBN1):c.701G>A (p.Gly234Asp)
|
rs1555401670
|
|
NM_000138.5(FBN1):c.7021A>G (p.Thr2341Ala)
|
rs1566893526
|
|
NM_000138.5(FBN1):c.7037dup (p.Asn2346fs)
|
rs1131691656
|
|
NM_000138.5(FBN1):c.7039_7040del (p.Met2347fs)
|
rs794728319
|
|
NM_000138.5(FBN1):c.7048A>G (p.Ile2350Val)
|
rs794728263
|
|
NM_000138.5(FBN1):c.7050C>G (p.Ile2350Met)
|
rs772287755
|
|
NM_000138.5(FBN1):c.7082C>G (p.Ser2361Trp)
|
rs397515844
|
|
NM_000138.5(FBN1):c.708_726dup (p.Ala243fs)
|
rs2141357984
|
|
NM_000138.5(FBN1):c.7091G>A (p.Cys2364Tyr)
|
rs1597517925
|
|
NM_000138.5(FBN1):c.7111T>C (p.Trp2371Arg)
|
rs794728264
|
|
NM_000138.5(FBN1):c.7115G>T (p.Gly2372Val)
|
rs112369155
|
|
NM_000138.5(FBN1):c.7125T>A (p.Cys2375Ter)
|
rs794728265
|
|
NM_000138.5(FBN1):c.7132T>C (p.Cys2378Arg)
|
rs794728267
|
|
NM_000138.5(FBN1):c.7167_7168del (p.Cys2390fs)
|
rs397515846
|
|
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.7198G>A (p.Gly2400Arg)
|
rs2141228805
|
|
NM_000138.5(FBN1):c.719G>A (p.Arg240His)
|
rs768744583
|
|
NM_000138.5(FBN1):c.7204+3A>G
|
rs1057518076
|
|
NM_000138.5(FBN1):c.7204G>C (p.Asp2402His)
|
rs1057524757
|
|
NM_000138.5(FBN1):c.7205-1G>A
|
rs794728266
|
|
NM_000138.5(FBN1):c.7205-3C>G
|
rs2141227114
|
|
NM_000138.5(FBN1):c.7217G>A (p.Cys2406Tyr)
|
rs1131691479
|
|
NM_000138.5(FBN1):c.7217G>T (p.Cys2406Phe)
|
rs1131691479
|
|
NM_000138.5(FBN1):c.7246G>A (p.Gly2416Arg)
|
rs794728269
|
|
NM_000138.5(FBN1):c.7252dup (p.Cys2418fs)
|
|
|
NM_000138.5(FBN1):c.7253G>A (p.Cys2418Tyr)
|
rs794728270
|
|
NM_000138.5(FBN1):c.7259A>G (p.Asn2420Ser)
|
rs2141226971
|
|
NM_000138.5(FBN1):c.7261G>A (p.Asp2421Asn)
|
|
|
NM_000138.5(FBN1):c.7267G>T (p.Gly2423Ter)
|
rs794728271
|
|
NM_000138.5(FBN1):c.7295G>C (p.Gly2432Ala)
|
rs1266993955
|
|
NM_000138.5(FBN1):c.7299C>T (p.Tyr2433=)
|
rs1566892872
|
|
NM_000138.5(FBN1):c.7330+3_7330+6del
|
rs1597516325
|
|
NM_000138.5(FBN1):c.7330+53dup
|
rs879018362
|
|
NM_000138.5(FBN1):c.7331-5C>T
|
rs1597516086
|
|
NM_000138.5(FBN1):c.736+1G>A
|
rs1064796866
|
|
NM_000138.5(FBN1):c.7364G>A (p.Cys2455Tyr)
|
rs1555394409
|
|
NM_000138.5(FBN1):c.7366A>C (p.Asn2456His)
|
rs2141226433
|
|
NM_000138.5(FBN1):c.737-25CT[2]
|
rs72041020
|
|
NM_000138.5(FBN1):c.737-26del
|
rs373084568
|
|
NM_000138.5(FBN1):c.737-2A>G
|
rs1131691772
|
|
NM_000138.5(FBN1):c.7376G>A (p.Cys2459Tyr)
|
rs1555394406
|
|
NM_000138.5(FBN1):c.7383C>G (p.Asn2461Lys)
|
rs754047254
|
|
NM_000138.5(FBN1):c.7402T>C (p.Cys2468Arg)
|
rs1085308004
|
|
NM_000138.5(FBN1):c.7418G>C (p.Gly2473Ala)
|
rs2042971166
|
|
NM_000138.5(FBN1):c.7420T>G (p.Tyr2474Asp)
|
rs2141226281
|
|
NM_000138.5(FBN1):c.7428G>A (p.Leu2476=)
|
rs1229985371
|
|
NM_000138.5(FBN1):c.7432_7435del (p.Glu2478fs)
|
rs1057518012
|
|
NM_000138.5(FBN1):c.7453+1G>A
|
rs397515851
|
|
NM_000138.5(FBN1):c.7454-1G>T
|
rs2141222615
|
|
NM_000138.5(FBN1):c.7454A>G (p.Asp2485Gly)
|
rs1085307921
|
|
NM_000138.5(FBN1):c.7465T>C (p.Cys2489Arg)
|
rs1057520728
|
|
NM_000138.5(FBN1):c.7489C>G (p.Gln2497Glu)
|
|
|
NM_000138.5(FBN1):c.7497A>T (p.Leu2499=)
|
|
|
NM_000138.5(FBN1):c.7499G>A (p.Cys2500Tyr)
|
rs794728160
|
|
NM_000138.5(FBN1):c.7505A>T (p.Asn2502Ile)
|
rs1555394243
|
|
NM_000138.5(FBN1):c.7507del (p.Thr2503fs)
|
rs1555394242
|
|
NM_000138.5(FBN1):c.7511T>C (p.Ile2504Thr)
|
rs2141222485
|
|
NM_000138.5(FBN1):c.7515C>T (p.Gly2505=)
|
rs374570475
|
|
NM_000138.5(FBN1):c.7523C>T (p.Thr2508Ile)
|
|
|
NM_000138.5(FBN1):c.7527C>A (p.Cys2509Ter)
|
rs2141222456
|
|
NM_000138.5(FBN1):c.7530A>G (p.Lys2510=)
|
rs754992689
|
|
NM_000138.5(FBN1):c.7531T>C (p.Cys2511Arg)
|
rs794728272
|
|
NM_000138.5(FBN1):c.7532G>A (p.Cys2511Tyr)
|
rs1555394238
|
|
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg)
|
rs363811
|
|
NM_000138.5(FBN1):c.7577A>G (p.Asn2526Ser)
|
rs794728336
|
|
NM_000138.5(FBN1):c.7599del (p.Leu2534fs)
|
rs794728320
|
|
NM_000138.5(FBN1):c.7600C>A (p.Leu2534Met)
|
rs794728274
|
|
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.7616G>A (p.Gly2539Asp)
|
rs1555394203
|
|
NM_000138.5(FBN1):c.762del (p.Leu256fs)
|
rs1064793559
|
|
NM_000138.5(FBN1):c.7653A>G (p.Glu2551=)
|
rs1597513334
|
|
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.7666T>G (p.Phe2556Val)
|
rs193922234
|
|
NM_000138.5(FBN1):c.7669T>C (p.Ser2557Pro)
|
rs1057524396
|
|
NM_000138.5(FBN1):c.768_769del (p.Cys257fs)
|
rs2043995619
|
|
NM_000138.5(FBN1):c.7699+5G>A
|
rs1555394187
|
|
NM_000138.5(FBN1):c.7699G>A (p.Asp2567Asn)
|
|
|
NM_000138.5(FBN1):c.7700-277del
|
rs200409772
|
|
NM_000138.5(FBN1):c.7700-288dup
|
rs200409772
|
|
NM_000138.5(FBN1):c.7700-9C>G
|
rs772261791
|
|
NM_000138.5(FBN1):c.7708G>A (p.Glu2570Lys)
|
rs886038786
|
|
NM_000138.5(FBN1):c.7712G>A (p.Cys2571Tyr)
|
rs1555394153
|
|
NM_000138.5(FBN1):c.7726C>T (p.Arg2576Cys)
|
rs147195031
|
|
NM_000138.5(FBN1):c.7754T>A (p.Ile2585Asn)
|
|
|
NM_000138.5(FBN1):c.7759G>A (p.Gly2587Ser)
|
rs2042934369
|
|
NM_000138.5(FBN1):c.7765A>G (p.Arg2589Gly)
|
rs111413134
|
|
NM_000138.5(FBN1):c.7770C>G (p.Cys2590Trp)
|
rs1064796667
|
|
NM_000138.5(FBN1):c.7775G>A (p.Cys2592Tyr)
|
rs112118237
|
|
NM_000138.5(FBN1):c.7775G>T (p.Cys2592Phe)
|
rs112118237
|
|
NM_000138.5(FBN1):c.7776C>T (p.Cys2592=)
|
rs886042134
|
|
NM_000138.5(FBN1):c.7783G>A (p.Gly2595Ser)
|
rs2141220661
|
|
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.7787A>G (p.Tyr2596Cys)
|
rs1566891404
|
|
NM_000138.5(FBN1):c.778G>A (p.Gly260Arg)
|
rs2043995400
|
|
NM_000138.5(FBN1):c.7800C>G (p.Tyr2600Ter)
|
rs1404133653
|
|
NM_000138.5(FBN1):c.7806G>A (p.Trp2602Ter)
|
rs193922236
|
|
NM_000138.5(FBN1):c.7815T>A (p.Cys2605Ter)
|
|
|
NM_000138.5(FBN1):c.7816G>A (p.Val2606Ile)
|
rs1172183618
|
|
NM_000138.5(FBN1):c.7819+140G>A
|
rs59270599
|
|
NM_000138.5(FBN1):c.7819+184del
|
rs3214528
|
|
NM_000138.5(FBN1):c.7819+1G>A
|
rs112907302
|
|
NM_000138.5(FBN1):c.7819+3A>C
|
rs1555394135
|
|
NM_000138.5(FBN1):c.7819+4A>G
|
rs794728278
|
|
NM_000138.5(FBN1):c.7819+5G>A
|
rs2141220566
|
|
NM_000138.5(FBN1):c.7819G>A (p.Asp2607Asn)
|
rs1597512576
|
|
NM_000138.5(FBN1):c.7820-3C>A
|
rs193922237
|
|
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.7861T>G (p.Ser2621Ala)
|
rs2042899021
|
|
NM_000138.5(FBN1):c.7862C>G (p.Ser2621Cys)
|
rs1085307887
|
|
NM_000138.5(FBN1):c.7865G>C (p.Cys2622Ser)
|
rs1555393880
|
|
NM_000138.5(FBN1):c.7867C>G (p.His2623Asp)
|
|
|
NM_000138.5(FBN1):c.7877T>A (p.Leu2626Gln)
|
rs794728338
|
|
NM_000138.5(FBN1):c.7879G>C (p.Gly2627Arg)
|
rs193922239
|
|
NM_000138.5(FBN1):c.7880G>A (p.Gly2627Glu)
|
rs1555393875
|
|
NM_000138.5(FBN1):c.7907G>T (p.Gly2636Val)
|
rs2042898109
|
|
NM_000138.5(FBN1):c.7931_7934dup (p.Cys2646fs)
|
rs1555393865
|
|
NM_000138.5(FBN1):c.7955G>A (p.Cys2652Tyr)
|
rs397515859
|
|
NM_000138.5(FBN1):c.7980C>G (p.Ser2660Arg)
|
rs1060501030
|
|
NM_000138.5(FBN1):c.7982A>G (p.Tyr2661Cys)
|
rs112196241
|
|
NM_000138.5(FBN1):c.7994A>G (p.Asn2665Ser)
|
rs763173031
|
|
NM_000138.5(FBN1):c.7C>T (p.Arg3Ter)
|
rs886038797
|
|
NM_000138.5(FBN1):c.8002G>T (p.Gly2668Cys)
|
rs1057521100
|
|
NM_000138.5(FBN1):c.8005G>A (p.Gly2669Ser)
|
rs794728281
|
|
NM_000138.5(FBN1):c.8005G>T (p.Gly2669Cys)
|
rs794728281
|
|
NM_000138.5(FBN1):c.8005_8019del (p.Gly2669_Gly2673del)
|
rs1555393829
|
|
NM_000138.5(FBN1):c.8006G>T (p.Gly2669Val)
|
rs886038869
|
|
NM_000138.5(FBN1):c.8010C>G (p.Tyr2670Ter)
|
rs794728282
|
|
NM_000138.5(FBN1):c.8020T>C (p.Cys2674Arg)
|
rs1060501014
|
|
NM_000138.5(FBN1):c.8021G>A (p.Cys2674Tyr)
|
rs1555393827
|
|
NM_000138.5(FBN1):c.8021G>C (p.Cys2674Ser)
|
rs1555393827
|
|
NM_000138.5(FBN1):c.8033A>G (p.Tyr2678Cys)
|
|
|
NM_000138.5(FBN1):c.8038C>T (p.Arg2680Cys)
|
rs794728283
|
|
NM_000138.5(FBN1):c.803_811del (p.Ser268_Glu270del)
|
rs794728294
|
|
NM_000138.5(FBN1):c.8047C>T (p.Gln2683Ter)
|
rs2141214520
|
|
NM_000138.5(FBN1):c.8051+640_8051+641del
|
rs11299662
|
|
NM_000138.5(FBN1):c.8051+641del
|
rs11299662
|
|
NM_000138.5(FBN1):c.8051+662G>A
|
rs57935626
|
|
NM_000138.5(FBN1):c.8052-3C>G
|
rs1057524642
|
|
NM_000138.5(FBN1):c.8054A>G (p.His2685Arg)
|
rs1555393666
|
|
NM_000138.5(FBN1):c.8055C>G (p.His2685Gln)
|
rs1309361114
|
|
NM_000138.5(FBN1):c.8064del (p.Gly2689fs)
|
rs794728344
|
|
NM_000138.5(FBN1):c.806T>C (p.Phe269Ser)
|
rs951026080
|
|
NM_000138.5(FBN1):c.8074A>T (p.Met2692Leu)
|
rs2141211792
|
|
NM_000138.5(FBN1):c.8078G>A (p.Gly2693Asp)
|
rs1555393664
|
|
NM_000138.5(FBN1):c.8078G>C (p.Gly2693Ala)
|
rs1555393664
|
|
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.8081G>A (p.Arg2694Gln)
|
rs371375126
|
|
NM_000138.5(FBN1):c.8082A>C (p.Arg2694=)
|
rs1597507799
|
|
NM_000138.5(FBN1):c.8083G>A (p.Gly2695Arg)
|
rs1555393663
|
|
NM_000138.5(FBN1):c.8098C>T (p.Pro2700Ser)
|
|
|
NM_000138.5(FBN1):c.8108G>T (p.Gly2703Val)
|
rs794728284
|
|
NM_000138.5(FBN1):c.811T>G (p.Cys271Gly)
|
rs1060501019
|
|
NM_000138.5(FBN1):c.8120A>G (p.Asp2707Gly)
|
rs1566889150
|
|
NM_000138.5(FBN1):c.8147A>G (p.Tyr2716Cys)
|
rs1555393656
|
|
NM_000138.5(FBN1):c.8148C>G (p.Tyr2716Ter)
|
rs112642323
|
|
NM_000138.5(FBN1):c.8154dup (p.Lys2719Ter)
|
rs794728321
|
|
NM_000138.5(FBN1):c.8155A>G (p.Lys2719Glu)
|
|
|
NM_000138.5(FBN1):c.8170C>T (p.Pro2724Ser)
|
rs1085307904
|
|
NM_000138.5(FBN1):c.8177G>T (p.Arg2726Leu)
|
rs552157433
|
|
NM_000138.5(FBN1):c.8185A>C (p.Lys2729Gln)
|
rs370096856
|
|
NM_000138.5(FBN1):c.8188C>T (p.Arg2730Trp)
|
rs1371152380
|
|
NM_000138.5(FBN1):c.8211T>G (p.Asp2737Glu)
|
|
|
NM_000138.5(FBN1):c.821C>A (p.Pro274His)
|
rs1085307537
|
|
NM_000138.5(FBN1):c.8223C>G (p.Ile2741Met)
|
rs150065311
|
|
NM_000138.5(FBN1):c.8226+1G>A
|
rs398122833
|
|
NM_000138.5(FBN1):c.8226+5G>A
|
rs193922243
|
|
NM_000138.5(FBN1):c.8232G>C (p.Gln2744His)
|
rs376119827
|
|
NM_000138.5(FBN1):c.8256del (p.Ala2754fs)
|
rs1064793503
|
|
NM_000138.5(FBN1):c.8270A>T (p.Asp2757Val)
|
rs1060501088
|
|
NM_000138.5(FBN1):c.8275G>T (p.Glu2759Ter)
|
rs1057518023
|
|
NM_000138.5(FBN1):c.8281A>G (p.Thr2761Ala)
|
|
|
NM_000138.5(FBN1):c.8284G>A (p.Ala2762Thr)
|
rs2141210059
|
|
NM_000138.5(FBN1):c.8316T>C (p.Ser2772=)
|
rs1597506843
|
|
NM_000138.5(FBN1):c.8331C>T (p.Ile2777=)
|
|
|
NM_000138.5(FBN1):c.8360dup (p.Thr2788fs)
|
rs1555393548
|
|
NM_000138.5(FBN1):c.8405G>A (p.Gly2802Asp)
|
rs770484928
|
|
NM_000138.5(FBN1):c.8408T>C (p.Phe2803Ser)
|
rs2141209869
|
|
NM_000138.5(FBN1):c.8412T>G (p.Phe2804Leu)
|
rs794728285
|
|
NM_000138.5(FBN1):c.8417T>A (p.Ile2806Asn)
|
rs2141209854
|
|
NM_000138.5(FBN1):c.8422del (p.Gln2808fs)
|
rs1131691692
|
|
NM_000138.5(FBN1):c.8432G>A (p.Gly2811Glu)
|
rs2042858918
|
|
NM_000138.5(FBN1):c.8441A>G (p.Tyr2814Cys)
|
rs1597506745
|
|
NM_000138.5(FBN1):c.8478C>G (p.Thr2826=)
|
rs1597506683
|
|
NM_000138.5(FBN1):c.8480A>C (p.Tyr2827Ser)
|
rs794728287
|
|
NM_000138.5(FBN1):c.8504C>T (p.Pro2835Leu)
|
|
|
NM_000138.5(FBN1):c.8506C>T (p.Leu2836Phe)
|
|
|
NM_000138.5(FBN1):c.8511T>C (p.Tyr2837=)
|
rs1566888580
|
|
NM_000138.5(FBN1):c.8520_8523del (p.Lys2840fs)
|
rs1555393513
|
|
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.8536G>C (p.Glu2846Gln)
|
rs1555393508
|
|
NM_000138.5(FBN1):c.8543A>G (p.Lys2848Arg)
|
rs765839151
|
|
NM_000138.5(FBN1):c.8543_8544del (p.Lys2848fs)
|
rs794728323
|
|
NM_000138.5(FBN1):c.8544del (p.Lys2848fs)
|
rs794728323
|
|
NM_000138.5(FBN1):c.855dup (p.Cys286fs)
|
rs2141353573
|
|
NM_000138.5(FBN1):c.8579A>G (p.Asp2860Gly)
|
rs368599541
|
|
NM_000138.5(FBN1):c.8582A>T (p.Asn2861Ile)
|
rs747213800
|
|
NM_000138.5(FBN1):c.8596dup (p.Ile2866fs)
|
rs1597506547
|
|
NM_000138.5(FBN1):c.8603T>G (p.Val2868Gly)
|
rs1555393485
|
|
NM_000138.5(FBN1):c.862G>A (p.Asp288Asn)
|
|
|
NM_000138.5(FBN1):c.863-26C>T
|
rs1433501467
|
|
NM_000138.5(FBN1):c.867T>G (p.Ile289Met)
|
rs2141343481
|
|
NM_000138.5(FBN1):c.878G>A (p.Ser293Asn)
|
rs1597587573
|
|
NM_000138.5(FBN1):c.895T>C (p.Cys299Arg)
|
rs1597587564
|
|
NM_000138.5(FBN1):c.897_898del (p.Cys299_Glu300delinsTer)
|
rs2141343447
|
|
NM_000138.5(FBN1):c.899A>G (p.Glu300Gly)
|
rs1186527816
|
|
NM_000138.5(FBN1):c.902G>A (p.Gly301Glu)
|
|
|
NM_000138.5(FBN1):c.90G>T (p.Glu30Asp)
|
rs778831047
|
|
NM_000138.5(FBN1):c.911G>A (p.Cys304Tyr)
|
rs1555401011
|
|
NM_000138.5(FBN1):c.917del (p.Asn306fs)
|
rs1064793637
|
|
NM_000138.5(FBN1):c.946C>A (p.Pro316Thr)
|
rs756687172
|
|
NM_000138.5(FBN1):c.95G>A (p.Gly32Glu)
|
rs2140787667
|
|
NM_000138.5(FBN1):c.978del (p.Arg327fs)
|
rs1060501094
|
|
NM_000138.5(FBN1):c.988+11T>G
|
|
|
NM_000138.5(FBN1):c.988+3A>G
|
|
|
NM_000138.5(FBN1):c.989-32GT[7]
|
rs147092263
|
|
Single allele
|
|
|