NM_000138.5(FBN1):c.6855T>C (p.Asp2285=)
|
rs363836
|
0.02755
|
NM_000138.5(FBN1):c.6888G>A (p.Gln2296=)
|
rs363830
|
0.02418
|
NM_000138.5(FBN1):c.7819+8A>C
|
rs363838
|
0.02324
|
NM_000138.5(FBN1):c.443-35A>G
|
rs116842662
|
0.01770
|
NM_000138.5(FBN1):c.3082+6A>G
|
rs79321504
|
0.01406
|
NM_000138.5(FBN1):c.3294C>T (p.Asp1098=)
|
rs140587
|
0.01051
|
NM_000138.5(FBN1):c.3965-8T>C
|
rs140637
|
0.00859
|
NM_000138.5(FBN1):c.986T>C (p.Ile329Thr)
|
rs12324002
|
0.00737
|
NM_000138.5(FBN1):c.2855-29A>G
|
rs140589
|
0.00725
|
NM_000138.5(FBN1):c.5343G>A (p.Val1781=)
|
rs140649
|
0.00561
|
NM_000138.5(FBN1):c.2855-9C>T
|
rs140590
|
0.00556
|
NM_000138.5(FBN1):c.6393C>T (p.Cys2131=)
|
rs61730051
|
0.00522
|
NM_000138.5(FBN1):c.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.7497A>G (p.Leu2499=)
|
rs148516442
|
0.00268
|
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.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.6998-33del
|
rs563973570
|
0.00075
|
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.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.5065+10A>G
|
rs375945405
|
0.00048
|
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.4443C>T (p.Ser1481=)
|
rs145040593
|
0.00026
|
NM_000138.5(FBN1):c.539-15del
|
rs193922211
|
0.00026
|
NM_000138.5(FBN1):c.5423-4G>A
|
rs377036485
|
0.00026
|
NM_000138.5(FBN1):c.2678-12T>C
|
rs200368037
|
0.00024
|
NM_000138.5(FBN1):c.6314-15G>A
|
rs200841830
|
0.00023
|
NM_000138.5(FBN1):c.6705A>C (p.Gly2235=)
|
rs2229326
|
0.00019
|
NM_000138.5(FBN1):c.7852G>A (p.Gly2618Arg)
|
rs141133182
|
0.00019
|
NM_000138.5(FBN1):c.3590-8T>C
|
rs140600
|
0.00018
|
NM_000138.5(FBN1):c.4727T>C (p.Met1576Thr)
|
rs776625874
|
0.00018
|
NM_000138.5(FBN1):c.902G>T (p.Gly301Val)
|
rs142888621
|
0.00018
|
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.4001G>A (p.Gly1334Asp)
|
rs191989961
|
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.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.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.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.396T>C (p.Asp132=)
|
rs147481356
|
0.00009
|
NM_000138.5(FBN1):c.4342G>A (p.Asp1448Asn)
|
rs371377334
|
0.00009
|
NM_000138.5(FBN1):c.5225-13T>G
|
rs367786211
|
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.3226A>C (p.Ile1076Leu)
|
rs201156527
|
0.00008
|
NM_000138.5(FBN1):c.6038-15_6038-14del
|
rs752198920
|
0.00008
|
NM_000138.5(FBN1):c.2746G>A (p.Val916Met)
|
rs373644734
|
0.00007
|
NM_000138.5(FBN1):c.4582+3A>G
|
rs777845323
|
0.00007
|
NM_000138.5(FBN1):c.5963C>T (p.Thr1988Ile)
|
rs142912485
|
0.00007
|
NM_000138.5(FBN1):c.1316G>A (p.Arg439Gln)
|
rs568810058
|
0.00006
|
NM_000138.5(FBN1):c.1961-14T>C
|
rs373918202
|
0.00006
|
NM_000138.5(FBN1):c.2434G>A (p.Glu812Lys)
|
rs201778577
|
0.00006
|
NM_000138.5(FBN1):c.2901C>T (p.Cys967=)
|
rs755610084
|
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.4998C>G (p.Thr1666=)
|
rs141925790
|
0.00006
|
NM_000138.5(FBN1):c.5097C>T (p.Tyr1699=)
|
rs368979510
|
0.00006
|
NM_000138.5(FBN1):c.5516A>T (p.Tyr1839Phe)
|
rs758725993
|
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.7204+7C>G
|
rs371763964
|
0.00006
|
NM_000138.5(FBN1):c.7412C>G (p.Pro2471Arg)
|
rs193922233
|
0.00006
|
NM_000138.5(FBN1):c.7516G>A (p.Gly2506Ser)
|
rs756295016
|
0.00006
|
NM_000138.5(FBN1):c.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.2927G>A (p.Arg976His)
|
rs140954477
|
0.00005
|
NM_000138.5(FBN1):c.346+16C>T
|
rs369090026
|
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.7820-4G>A
|
rs750036723
|
0.00005
|
NM_000138.5(FBN1):c.7964C>T (p.Ala2655Val)
|
rs202240409
|
0.00005
|
NM_000138.5(FBN1):c.8149G>A (p.Glu2717Lys)
|
rs187553035
|
0.00005
|
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.1885G>A (p.Val629Ile)
|
rs140503215
|
0.00004
|
NM_000138.5(FBN1):c.2075T>A (p.Phe692Tyr)
|
rs955639059
|
0.00004
|
NM_000138.5(FBN1):c.2419+13T>A
|
rs372885314
|
0.00004
|
NM_000138.5(FBN1):c.2600A>G (p.Asn867Ser)
|
rs145464311
|
0.00004
|
NM_000138.5(FBN1):c.3295G>A (p.Glu1099Lys)
|
rs763485521
|
0.00004
|
NM_000138.5(FBN1):c.3503A>G (p.Asn1168Ser)
|
rs776667707
|
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.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.538+4A>G
|
rs375721252
|
0.00004
|
NM_000138.5(FBN1):c.5442C>T (p.Asn1814=)
|
rs397515822
|
0.00004
|
NM_000138.5(FBN1):c.5717G>A (p.Arg1906Gln)
|
rs774798866
|
0.00004
|
NM_000138.5(FBN1):c.5724A>G (p.Thr1908=)
|
rs141219664
|
0.00004
|
NM_000138.5(FBN1):c.5842A>G (p.Ile1948Val)
|
rs766850261
|
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.7210G>A (p.Asp2404Asn)
|
rs530059069
|
0.00004
|
NM_000138.5(FBN1):c.7700-13G>C
|
rs775509707
|
0.00004
|
NM_000138.5(FBN1):c.8299A>G (p.Asn2767Asp)
|
rs771437236
|
0.00004
|
NM_000138.5(FBN1):c.980G>C (p.Arg327Thr)
|
rs775206410
|
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.1747C>T (p.Leu583Phe)
|
rs767293952
|
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.2735A>G (p.Asp912Gly)
|
rs754919275
|
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.3523A>G (p.Ile1175Val)
|
rs756754760
|
0.00003
|
NM_000138.5(FBN1):c.378A>G (p.Gly126=)
|
rs149611106
|
0.00003
|
NM_000138.5(FBN1):c.4337-5C>G
|
rs370959127
|
0.00003
|
NM_000138.5(FBN1):c.4405C>T (p.Arg1469Cys)
|
rs587782946
|
0.00003
|
NM_000138.5(FBN1):c.442+1G>A
|
rs868403743
|
0.00003
|
NM_000138.5(FBN1):c.5066-7C>G
|
rs377369765
|
0.00003
|
NM_000138.5(FBN1):c.6623A>G (p.Asn2208Ser)
|
rs146063839
|
0.00003
|
NM_000138.5(FBN1):c.6890C>T (p.Thr2297Met)
|
rs773785908
|
0.00003
|
NM_000138.5(FBN1):c.7241G>A (p.Arg2414Gln)
|
rs143863014
|
0.00003
|
NM_000138.5(FBN1):c.8202C>T (p.Asn2734=)
|
rs113904256
|
0.00003
|
NM_000138.5(FBN1):c.885T>G (p.Ile295Met)
|
rs151056963
|
0.00003
|
NM_000138.5(FBN1):c.1468+4C>T
|
rs765579667
|
0.00002
|
NM_000138.5(FBN1):c.1547G>A (p.Arg516Gln)
|
rs775489067
|
0.00002
|
NM_000138.5(FBN1):c.1562G>A (p.Ser521Asn)
|
rs749253325
|
0.00002
|
NM_000138.5(FBN1):c.1961-7T>C
|
rs878853675
|
0.00002
|
NM_000138.5(FBN1):c.2547C>G (p.Ile849Met)
|
rs778258207
|
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.3359A>T (p.Asp1120Val)
|
rs1183556572
|
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.3785G>A (p.Arg1262Lys)
|
rs371103773
|
0.00002
|
NM_000138.5(FBN1):c.3937G>A (p.Gly1313Ser)
|
rs1156984408
|
0.00002
|
NM_000138.5(FBN1):c.4337-3A>C
|
rs770551687
|
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.4999G>A (p.Val1667Ile)
|
rs140626
|
0.00002
|
NM_000138.5(FBN1):c.5918-12T>G
|
rs751115639
|
0.00002
|
NM_000138.5(FBN1):c.6007G>A (p.Gly2003Arg)
|
rs1413737899
|
0.00002
|
NM_000138.5(FBN1):c.6180C>T (p.Tyr2060=)
|
rs974604498
|
0.00002
|
NM_000138.5(FBN1):c.6616+5A>G
|
rs1381778697
|
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.7754T>C (p.Ile2585Thr)
|
rs727503054
|
0.00002
|
NM_000138.5(FBN1):c.1289C>T (p.Pro430Leu)
|
rs771134832
|
0.00001
|
NM_000138.5(FBN1):c.1603T>A (p.Leu535Ile)
|
rs1485432119
|
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.2113+19A>T
|
rs541501178
|
0.00001
|
NM_000138.5(FBN1):c.2127A>C (p.Ala709=)
|
rs886038990
|
0.00001
|
NM_000138.5(FBN1):c.2228G>A (p.Arg743His)
|
rs761942436
|
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.2773C>G (p.Leu925Val)
|
rs149681175
|
0.00001
|
NM_000138.5(FBN1):c.287G>C (p.Arg96Thr)
|
rs794728291
|
0.00001
|
NM_000138.5(FBN1):c.2920C>T (p.Arg974Cys)
|
rs397514558
|
0.00001
|
NM_000138.5(FBN1):c.2926C>T (p.Arg976Cys)
|
rs548296552
|
0.00001
|
NM_000138.5(FBN1):c.2979C>T (p.Cys993=)
|
rs150126098
|
0.00001
|
NM_000138.5(FBN1):c.3031G>A (p.Gly1011Arg)
|
rs1267721327
|
0.00001
|
NM_000138.5(FBN1):c.3043G>A (p.Ala1015Thr)
|
rs55831697
|
0.00001
|
NM_000138.5(FBN1):c.3089A>G (p.Asn1030Ser)
|
rs375996640
|
0.00001
|
NM_000138.5(FBN1):c.3409C>T (p.Arg1137Cys)
|
rs1439487763
|
0.00001
|
NM_000138.5(FBN1):c.3463G>A (p.Asp1155Asn)
|
rs794728204
|
0.00001
|
NM_000138.5(FBN1):c.353A>G (p.His118Arg)
|
rs765503809
|
0.00001
|
NM_000138.5(FBN1):c.3560A>G (p.His1187Arg)
|
rs193922200
|
0.00001
|
NM_000138.5(FBN1):c.3571G>A (p.Asp1191Asn)
|
rs370121450
|
0.00001
|
NM_000138.5(FBN1):c.3711C>T (p.Thr1237=)
|
rs536369260
|
0.00001
|
NM_000138.5(FBN1):c.3740A>T (p.Asn1247Ile)
|
rs568625812
|
0.00001
|
NM_000138.5(FBN1):c.3797A>T (p.Tyr1266Phe)
|
rs200283837
|
0.00001
|
NM_000138.5(FBN1):c.3931T>A (p.Tyr1311Asn)
|
rs1406315227
|
0.00001
|
NM_000138.5(FBN1):c.3969C>T (p.Ile1323=)
|
rs536546914
|
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.4460-8G>A
|
rs193922204
|
0.00001
|
NM_000138.5(FBN1):c.4492A>G (p.Ile1498Val)
|
rs761187818
|
0.00001
|
NM_000138.5(FBN1):c.484G>A (p.Ala162Thr)
|
rs193922210
|
0.00001
|
NM_000138.5(FBN1):c.5086T>C (p.Tyr1696His)
|
rs373320952
|
0.00001
|
NM_000138.5(FBN1):c.5142G>A (p.Met1714Ile)
|
rs368287795
|
0.00001
|
NM_000138.5(FBN1):c.5312G>A (p.Arg1771Gln)
|
rs759791896
|
0.00001
|
NM_000138.5(FBN1):c.5481T>G (p.Thr1827=)
|
rs1261752884
|
0.00001
|
NM_000138.5(FBN1):c.5582G>A (p.Ser1861Asn)
|
rs766358553
|
0.00001
|
NM_000138.5(FBN1):c.5603C>T (p.Thr1868Ile)
|
rs145082616
|
0.00001
|
NM_000138.5(FBN1):c.5753A>G (p.His1918Arg)
|
rs993464239
|
0.00001
|
NM_000138.5(FBN1):c.5788+5G>A
|
rs193922219
|
0.00001
|
NM_000138.5(FBN1):c.5876A>G (p.Asn1959Ser)
|
rs773486280
|
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.6163+2dup
|
rs794728315
|
0.00001
|
NM_000138.5(FBN1):c.6187G>A (p.Ala2063Thr)
|
rs1316593215
|
0.00001
|
NM_000138.5(FBN1):c.6315G>A (p.Glu2105=)
|
rs1478813051
|
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.6806T>C (p.Ile2269Thr)
|
rs193922228
|
0.00001
|
NM_000138.5(FBN1):c.6845G>A (p.Arg2282Gln)
|
rs759696323
|
0.00001
|
NM_000138.5(FBN1):c.6932G>A (p.Arg2311His)
|
rs141868829
|
0.00001
|
NM_000138.5(FBN1):c.7181G>A (p.Arg2394Gln)
|
rs199750146
|
0.00001
|
NM_000138.5(FBN1):c.7189A>G (p.Met2397Val)
|
rs774698871
|
0.00001
|
NM_000138.5(FBN1):c.7559C>T (p.Thr2520Met)
|
rs763759308
|
0.00001
|
NM_000138.5(FBN1):c.776G>A (p.Gly259Glu)
|
rs751169871
|
0.00001
|
NM_000138.5(FBN1):c.7848C>G (p.Ile2616Met)
|
rs138184493
|
0.00001
|
NM_000138.5(FBN1):c.7903G>A (p.Ala2635Thr)
|
rs746859988
|
0.00001
|
NM_000138.5(FBN1):c.7916A>G (p.Tyr2639Cys)
|
rs794728280
|
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.8227-3C>T
|
rs200822151
|
0.00001
|
NM_000138.5(FBN1):c.8326C>T (p.Arg2776Ter)
|
rs137854466
|
0.00001
|
NM_000138.5(FBN1):c.8551A>G (p.Lys2851Glu)
|
rs371939796
|
0.00001
|
NM_000138.4(FBN1):c.5470_5471delinsAT (p.Cys1824Ile)
|
rs1555396205
|
|
NM_000138.4(FBN1):c.8051delinsTT (p.Gly2684fs)
|
rs1555393824
|
|
NM_000138.5(FBN1):c.*960del
|
rs527621676
|
|
NM_000138.5(FBN1):c.1148-2A>G
|
rs397515756
|
|
NM_000138.5(FBN1):c.1156_1167del (p.Asn386_Cys389del)
|
rs672601352
|
|
NM_000138.5(FBN1):c.1158C>G (p.Asn386Lys)
|
rs368737502
|
|
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.1379G>A (p.Cys460Tyr)
|
rs1597581001
|
|
NM_000138.5(FBN1):c.1391del (p.Arg464fs)
|
rs1555400385
|
|
NM_000138.5(FBN1):c.1453C>T (p.Arg485Cys)
|
rs137854485
|
|
NM_000138.5(FBN1):c.1459G>T (p.Glu487Ter)
|
rs1555400374
|
|
NM_000138.5(FBN1):c.1462T>C (p.Cys488Arg)
|
rs1555400373
|
|
NM_000138.5(FBN1):c.1468+5G>A
|
rs397515757
|
|
NM_000138.5(FBN1):c.1468G>T (p.Asp490Tyr)
|
rs1555400371
|
|
NM_000138.5(FBN1):c.1496G>A (p.Cys499Tyr)
|
rs587782944
|
|
NM_000138.5(FBN1):c.1510T>C (p.Cys504Arg)
|
rs1555400288
|
|
NM_000138.5(FBN1):c.1530G>T (p.Ser510=)
|
rs147511977
|
|
NM_000138.5(FBN1):c.1545_1546inv (p.Cys515_Arg516delinsTrpGly)
|
|
|
NM_000138.5(FBN1):c.1556A>G (p.Tyr519Cys)
|
rs1555400278
|
|
NM_000138.5(FBN1):c.1589-5T>C
|
rs1371798538
|
|
NM_000138.5(FBN1):c.1633C>T (p.Arg545Cys)
|
rs730880099
|
|
NM_000138.5(FBN1):c.164+1G>A
|
rs794728213
|
|
NM_000138.5(FBN1):c.164+1del
|
rs1555407399
|
|
NM_000138.5(FBN1):c.1709del (p.Cys570fs)
|
rs193922182
|
|
NM_000138.5(FBN1):c.1746C>G (p.Cys582Trp)
|
|
|
NM_000138.5(FBN1):c.1817C>A (p.Ser606Ter)
|
rs794728176
|
|
NM_000138.5(FBN1):c.1823del (p.Gly608fs)
|
rs1555399949
|
|
NM_000138.5(FBN1):c.1831T>C (p.Cys611Arg)
|
rs1555399944
|
|
NM_000138.5(FBN1):c.1837+5G>A
|
rs1445085747
|
|
NM_000138.5(FBN1):c.1846G>A (p.Glu616Lys)
|
rs397515764
|
|
NM_000138.5(FBN1):c.1849T>C (p.Cys617Arg)
|
rs1060501017
|
|
NM_000138.5(FBN1):c.1849T>G (p.Cys617Gly)
|
rs1060501017
|
|
NM_000138.5(FBN1):c.184C>T (p.Arg62Cys)
|
rs25403
|
|
NM_000138.5(FBN1):c.1850G>A (p.Cys617Tyr)
|
rs1555399836
|
|
NM_000138.5(FBN1):c.188A>G (p.Tyr63Cys)
|
rs1303389437
|
|
NM_000138.5(FBN1):c.1904A>G (p.Tyr635Cys)
|
rs1555399816
|
|
NM_000138.5(FBN1):c.1940T>C (p.Leu647Pro)
|
rs1566913983
|
|
NM_000138.5(FBN1):c.1948C>T (p.Arg650Cys)
|
rs193922185
|
|
NM_000138.5(FBN1):c.1A>C (p.Met1Leu)
|
rs730880097
|
|
NM_000138.5(FBN1):c.2031T>A (p.Ala677=)
|
rs762312642
|
|
NM_000138.5(FBN1):c.2051G>A (p.Cys684Tyr)
|
rs1555399763
|
|
NM_000138.5(FBN1):c.2055C>G (p.Cys685Trp)
|
rs140603
|
|
NM_000138.5(FBN1):c.2147G>A (p.Gly716Glu)
|
rs794728185
|
|
NM_000138.5(FBN1):c.2168A>C (p.Asp723Ala)
|
rs137854463
|
|
NM_000138.5(FBN1):c.2207A>G (p.Asn736Ser)
|
rs1566912242
|
|
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.2261A>G (p.Tyr754Cys)
|
rs137854479
|
|
NM_000138.5(FBN1):c.2287T>G (p.Cys763Gly)
|
rs1555399361
|
|
NM_000138.5(FBN1):c.2298_2301del (p.Ile766fs)
|
rs1555399281
|
|
NM_000138.5(FBN1):c.229G>A (p.Gly77Arg)
|
rs794728290
|
|
NM_000138.5(FBN1):c.2432G>A (p.Cys811Tyr)
|
rs1555399210
|
|
NM_000138.5(FBN1):c.2446T>C (p.Cys816Arg)
|
rs1555399206
|
|
NM_000138.5(FBN1):c.2495G>A (p.Cys832Tyr)
|
rs397515775
|
|
NM_000138.5(FBN1):c.2539+10T>A
|
rs878853679
|
|
NM_000138.5(FBN1):c.2563C>T (p.Gln855Ter)
|
rs1057519502
|
|
NM_000138.5(FBN1):c.2581C>T (p.Arg861Ter)
|
rs140583
|
|
NM_000138.5(FBN1):c.2584T>C (p.Cys862Arg)
|
rs2043595650
|
|
NM_000138.5(FBN1):c.2624G>A (p.Cys875Tyr)
|
rs886039038
|
|
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.2645C>T (p.Ala882Val)
|
rs794728195
|
|
NM_000138.5(FBN1):c.266G>A (p.Cys89Tyr)
|
rs112660651
|
|
NM_000138.5(FBN1):c.2682del (p.Ile895fs)
|
rs193922194
|
|
NM_000138.5(FBN1):c.2723G>A (p.Cys908Tyr)
|
rs1057523406
|
|
NM_000138.5(FBN1):c.2858del (p.Ile953fs)
|
rs1555398836
|
|
NM_000138.5(FBN1):c.2860C>T (p.Arg954Cys)
|
rs1555398835
|
|
NM_000138.5(FBN1):c.2861G>A (p.Arg954His)
|
rs112911555
|
|
NM_000138.5(FBN1):c.2893G>A (p.Glu965Lys)
|
rs748905831
|
|
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.3124G>A (p.Gly1042Ser)
|
rs1555398681
|
|
NM_000138.5(FBN1):c.3140_3141del (p.Thr1047fs)
|
rs193922197
|
|
NM_000138.5(FBN1):c.3143T>C (p.Ile1048Thr)
|
rs1555398673
|
|
NM_000138.5(FBN1):c.3144del (p.Ile1048fs)
|
rs1555398672
|
|
NM_000138.5(FBN1):c.3146G>A (p.Gly1049Asp)
|
rs1555398670
|
|
NM_000138.5(FBN1):c.3152T>C (p.Phe1051Ser)
|
rs1555398668
|
|
NM_000138.5(FBN1):c.3217G>A (p.Glu1073Lys)
|
rs137854478
|
|
NM_000138.5(FBN1):c.3290G>A (p.Cys1097Tyr)
|
rs1555398627
|
|
NM_000138.5(FBN1):c.32T>G (p.Leu11Arg)
|
rs1555407429
|
|
NM_000138.5(FBN1):c.3302A>G (p.Tyr1101Cys)
|
rs1555398625
|
|
NM_000138.5(FBN1):c.3337+1G>A
|
rs397515789
|
|
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.3398_3408del (p.Glu1133fs)
|
rs1555398566
|
|
NM_000138.5(FBN1):c.3413G>C (p.Cys1138Ser)
|
rs397515791
|
|
NM_000138.5(FBN1):c.3413G>T (p.Cys1138Phe)
|
rs397515791
|
|
NM_000138.5(FBN1):c.3464-16_3464-14del
|
rs775944757
|
|
NM_000138.5(FBN1):c.3476G>A (p.Cys1159Tyr)
|
rs1555398524
|
|
NM_000138.5(FBN1):c.3508C>T (p.Arg1170Cys)
|
rs1366894709
|
|
NM_000138.5(FBN1):c.3554G>A (p.Gly1185Asp)
|
rs1555398512
|
|
NM_000138.5(FBN1):c.3557A>G (p.Tyr1186Cys)
|
rs1555398511
|
|
NM_000138.5(FBN1):c.3589+11TTTTA[5]
|
rs72158035
|
|
NM_000138.5(FBN1):c.359A>T (p.Asn120Ile)
|
rs753900024
|
|
NM_000138.5(FBN1):c.364C>T (p.Arg122Cys)
|
rs137854467
|
|
NM_000138.5(FBN1):c.3650G>A (p.Gly1217Asp)
|
rs1555398397
|
|
NM_000138.5(FBN1):c.3656A>G (p.Tyr1219Cys)
|
rs1555398394
|
|
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn)
|
rs794728208
|
|
NM_000138.5(FBN1):c.3725G>A (p.Cys1242Tyr)
|
rs137854471
|
|
NM_000138.5(FBN1):c.3902G>T (p.Gly1301Val)
|
rs1566908083
|
|
NM_000138.5(FBN1):c.4016G>C (p.Cys1339Ser)
|
rs397515798
|
|
NM_000138.5(FBN1):c.401G>A (p.Cys134Tyr)
|
rs1555405043
|
|
NM_000138.5(FBN1):c.4049G>T (p.Cys1350Phe)
|
rs1555397718
|
|
NM_000138.5(FBN1):c.4061G>A (p.Trp1354Ter)
|
rs1060501039
|
|
NM_000138.5(FBN1):c.4081T>C (p.Cys1361Arg)
|
rs1566906506
|
|
NM_000138.5(FBN1):c.4082G>A (p.Cys1361Tyr)
|
rs1555397704
|
|
NM_000138.5(FBN1):c.4096G>A (p.Glu1366Lys)
|
rs763449629
|
|
NM_000138.5(FBN1):c.4146T>A (p.Asn1382Lys)
|
rs794728218
|
|
NM_000138.5(FBN1):c.4152G>A (p.Met1384Ile)
|
rs1488326228
|
|
NM_000138.5(FBN1):c.4172G>T (p.Cys1391Phe)
|
rs1352478541
|
|
NM_000138.5(FBN1):c.4190G>T (p.Gly1397Val)
|
rs747867726
|
|
NM_000138.5(FBN1):c.4210+1G>A
|
rs730880106
|
|
NM_000138.5(FBN1):c.4337-1G>T
|
rs1555397424
|
|
NM_000138.5(FBN1):c.4337-48T>A
|
|
|
NM_000138.5(FBN1):c.4407_4409dup (p.Cys1470dup)
|
rs1555397404
|
|
NM_000138.5(FBN1):c.4414T>C (p.Cys1472Arg)
|
rs1555397403
|
|
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.4459G>A (p.Asp1487Asn)
|
rs113693945
|
|
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.4490G>A (p.Cys1497Tyr)
|
rs1555397212
|
|
NM_000138.5(FBN1):c.4526A>G (p.Tyr1509Cys)
|
rs730880102
|
|
NM_000138.5(FBN1):c.4567C>T (p.Arg1523Ter)
|
rs397515812
|
|
NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys)
|
rs111401431
|
|
NM_000138.5(FBN1):c.4747+5G>C
|
rs193922209
|
|
NM_000138.5(FBN1):c.4787G>C (p.Arg1596Pro)
|
rs769588424
|
|
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.493C>T (p.Arg165Ter)
|
rs113905529
|
|
NM_000138.5(FBN1):c.4943-1G>A
|
rs1555396863
|
|
NM_000138.5(FBN1):c.4955G>A (p.Cys1652Tyr)
|
rs397515817
|
|
NM_000138.5(FBN1):c.4998C>T (p.Thr1666=)
|
rs141925790
|
|
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.5061C>A (p.Cys1687Ter)
|
rs1555396838
|
|
NM_000138.5(FBN1):c.5065+1G>C
|
rs1296209846
|
|
NM_000138.5(FBN1):c.5066del (p.Asp1689fs)
|
rs727504347
|
|
NM_000138.5(FBN1):c.5073AAG[1] (p.Arg1692del)
|
rs1555396789
|
|
NM_000138.5(FBN1):c.5087A>G (p.Tyr1696Cys)
|
rs387906625
|
|
NM_000138.5(FBN1):c.510C>G (p.Tyr170Ter)
|
rs111671429
|
|
NM_000138.5(FBN1):c.5183C>T (p.Ala1728Val)
|
rs1131691804
|
|
NM_000138.5(FBN1):c.5358T>C (p.Val1786=)
|
rs1057521207
|
|
NM_000138.5(FBN1):c.5369G>A (p.Arg1790Gln)
|
rs1555396428
|
|
NM_000138.5(FBN1):c.5372G>A (p.Cys1791Tyr)
|
rs886038848
|
|
NM_000138.5(FBN1):c.538+12del
|
rs755209856
|
|
NM_000138.5(FBN1):c.5423-30_5423-28del
|
rs56354352
|
|
NM_000138.5(FBN1):c.5513G>A (p.Gly1838Asp)
|
rs78970689
|
|
NM_000138.5(FBN1):c.5546-1G>A
|
rs1566899590
|
|
NM_000138.5(FBN1):c.5626T>C (p.Cys1876Arg)
|
rs1555395980
|
|
NM_000138.5(FBN1):c.5672-3T>C
|
rs193922217
|
|
NM_000138.5(FBN1):c.5699G>T (p.Cys1900Phe)
|
rs794728237
|
|
NM_000138.5(FBN1):c.5726T>C (p.Ile1909Thr)
|
rs794728333
|
|
NM_000138.5(FBN1):c.5743C>T (p.Arg1915Cys)
|
rs1555395826
|
|
NM_000138.5(FBN1):c.577del (p.Gln193fs)
|
rs1555401697
|
|
NM_000138.5(FBN1):c.5788+4C>A
|
rs577301285
|
|
NM_000138.5(FBN1):c.5788+5G>T
|
rs193922219
|
|
NM_000138.5(FBN1):c.5800T>A (p.Cys1934Ser)
|
rs1555395767
|
|
NM_000138.5(FBN1):c.5800T>C (p.Cys1934Arg)
|
rs1555395767
|
|
NM_000138.5(FBN1):c.5826C>A (p.Cys1942Ter)
|
rs363806
|
|
NM_000138.5(FBN1):c.5840G>A (p.Cys1947Tyr)
|
rs397515828
|
|
NM_000138.5(FBN1):c.5857dup (p.Ser1953fs)
|
rs1555395757
|
|
NM_000138.5(FBN1):c.5874C>A (p.Cys1958Ter)
|
rs1555395750
|
|
NM_000138.5(FBN1):c.5917+1G>T
|
rs363808
|
|
NM_000138.5(FBN1):c.5950T>C (p.Cys1984Arg)
|
rs1555395659
|
|
NM_000138.5(FBN1):c.5959G>C (p.Gly1987Arg)
|
rs727504642
|
|
NM_000138.5(FBN1):c.5966G>T (p.Cys1989Phe)
|
rs1597531796
|
|
NM_000138.5(FBN1):c.6032G>A (p.Cys2011Tyr)
|
rs886038967
|
|
NM_000138.5(FBN1):c.6049T>C (p.Cys2017Arg)
|
rs1555395486
|
|
NM_000138.5(FBN1):c.6119G>A (p.Cys2040Tyr)
|
rs397515830
|
|
NM_000138.5(FBN1):c.6164-5T>C
|
rs2043085940
|
|
NM_000138.5(FBN1):c.619dup (p.Thr207fs)
|
rs1555401689
|
|
NM_000138.5(FBN1):c.6254G>A (p.Cys2085Tyr)
|
rs1555395261
|
|
NM_000138.5(FBN1):c.6322C>T (p.Arg2108Cys)
|
rs1246984265
|
|
NM_000138.5(FBN1):c.6379+1G>A
|
rs397515833
|
|
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.6414del (p.Lys2138fs)
|
rs1555395205
|
|
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.6453C>T (p.Cys2151=)
|
rs794728251
|
|
NM_000138.5(FBN1):c.6478G>A (p.Ala2160Thr)
|
rs2043077484
|
|
NM_000138.5(FBN1):c.6487G>T (p.Glu2163Ter)
|
rs1555395191
|
|
NM_000138.5(FBN1):c.6491G>A (p.Cys2164Tyr)
|
rs1555395189
|
|
NM_000138.5(FBN1):c.6496G>A (p.Asp2166Asn)
|
rs794728252
|
|
NM_000138.5(FBN1):c.6541T>C (p.Cys2181Arg)
|
rs1131691373
|
|
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.6610T>C (p.Cys2204Arg)
|
rs1555395001
|
|
NM_000138.5(FBN1):c.6616+1G>A
|
rs1064793980
|
|
NM_000138.5(FBN1):c.6616G>A (p.Asp2206Asn)
|
rs1555394999
|
|
NM_000138.5(FBN1):c.6617A>G (p.Asp2206Gly)
|
rs1597522584
|
|
NM_000138.5(FBN1):c.6645del (p.Leu2216fs)
|
rs1555394928
|
|
NM_000138.5(FBN1):c.6658C>T (p.Arg2220Ter)
|
rs113001196
|
|
NM_000138.5(FBN1):c.6697C>T (p.Pro2233Ser)
|
rs794728255
|
|
NM_000138.5(FBN1):c.6739+1G>C
|
rs869025419
|
|
NM_000138.5(FBN1):c.6740A>G (p.Asp2247Gly)
|
rs1060501032
|
|
NM_000138.5(FBN1):c.6773_6774del (p.Cys2258fs)
|
rs1555394777
|
|
NM_000138.5(FBN1):c.6786_6787del (p.Gln2262fs)
|
rs1555394776
|
|
NM_000138.5(FBN1):c.6801C>T (p.Asn2267=)
|
rs886051245
|
|
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.6872-14A>G
|
rs1064793119
|
|
NM_000138.5(FBN1):c.6884G>A (p.Cys2295Tyr)
|
rs886038949
|
|
NM_000138.5(FBN1):c.6888G>T (p.Gln2296His)
|
rs363830
|
|
NM_000138.5(FBN1):c.6916_6934del (p.Arg2306fs)
|
rs1555394630
|
|
NM_000138.5(FBN1):c.6932dup (p.Gly2312fs)
|
rs1555394631
|
|
NM_000138.5(FBN1):c.6947G>A (p.Cys2316Tyr)
|
rs1555394629
|
|
NM_000138.5(FBN1):c.6952T>C (p.Cys2318Arg)
|
rs111588631
|
|
NM_000138.5(FBN1):c.6998-40del
|
rs193922229
|
|
NM_000138.5(FBN1):c.7003C>T (p.Arg2335Trp)
|
rs794728262
|
|
NM_000138.5(FBN1):c.7064G>A (p.Arg2355Lys)
|
rs376372763
|
|
NM_000138.5(FBN1):c.7112G>A (p.Trp2371Ter)
|
rs1555394567
|
|
NM_000138.5(FBN1):c.7141C>T (p.Gln2381Ter)
|
rs869025414
|
|
NM_000138.5(FBN1):c.7151_7152del (p.Val2384fs)
|
rs869025423
|
|
NM_000138.5(FBN1):c.718C>T (p.Arg240Cys)
|
rs137854480
|
|
NM_000138.5(FBN1):c.7204+1G>A
|
rs1555394557
|
|
NM_000138.5(FBN1):c.7204+1G>T
|
rs1555394557
|
|
NM_000138.5(FBN1):c.7217G>A (p.Cys2406Tyr)
|
rs1131691479
|
|
NM_000138.5(FBN1):c.723G>A (p.Thr241=)
|
rs757264206
|
|
NM_000138.5(FBN1):c.7324T>A (p.Cys2442Ser)
|
rs1555394435
|
|
NM_000138.5(FBN1):c.7330+3_7330+6del
|
rs1597516325
|
|
NM_000138.5(FBN1):c.7383C>G (p.Asn2461Lys)
|
rs754047254
|
|
NM_000138.5(FBN1):c.7409G>T (p.Cys2470Phe)
|
rs1555394398
|
|
NM_000138.5(FBN1):c.7447T>C (p.Cys2483Arg)
|
rs1555394391
|
|
NM_000138.5(FBN1):c.7453+1G>A
|
rs397515851
|
|
NM_000138.5(FBN1):c.7505A>T (p.Asn2502Ile)
|
rs1555394243
|
|
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.7582T>C (p.Cys2528Arg)
|
rs1566891701
|
|
NM_000138.5(FBN1):c.7606G>A (p.Gly2536Arg)
|
rs397515854
|
|
NM_000138.5(FBN1):c.7699+5G>A
|
rs1555394187
|
|
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.7775G>A (p.Cys2592Tyr)
|
rs112118237
|
|
NM_000138.5(FBN1):c.7775G>T (p.Cys2592Phe)
|
rs112118237
|
|
NM_000138.5(FBN1):c.7788C>A (p.Tyr2596Ter)
|
rs1555394142
|
|
NM_000138.5(FBN1):c.7806G>A (p.Trp2602Ter)
|
rs193922236
|
|
NM_000138.5(FBN1):c.7819+3A>C
|
rs1555394135
|
|
NM_000138.5(FBN1):c.7828G>A (p.Glu2610Lys)
|
rs111984349
|
|
NM_000138.5(FBN1):c.7840G>A (p.Ala2614Thr)
|
rs1280320763
|
|
NM_000138.5(FBN1):c.7840G>C (p.Ala2614Pro)
|
rs1280320763
|
|
NM_000138.5(FBN1):c.7871A>G (p.Asn2624Ser)
|
rs113935744
|
|
NM_000138.5(FBN1):c.7892G>T (p.Cys2631Phe)
|
rs111856492
|
|
NM_000138.5(FBN1):c.7955G>A (p.Cys2652Tyr)
|
rs397515859
|
|
NM_000138.5(FBN1):c.8011C>T (p.Leu2671=)
|
rs886051244
|
|
NM_000138.5(FBN1):c.8038C>T (p.Arg2680Cys)
|
rs794728283
|
|
NM_000138.5(FBN1):c.8148C>G (p.Tyr2716Ter)
|
rs112642323
|
|
NM_000138.5(FBN1):c.8149G>T (p.Glu2717Ter)
|
rs187553035
|
|
NM_000138.5(FBN1):c.8185A>C (p.Lys2729Gln)
|
rs370096856
|
|
NM_000138.5(FBN1):c.821C>A (p.Pro274His)
|
rs1085307537
|
|
NM_000138.5(FBN1):c.8226+1G>A
|
rs398122833
|
|
NM_000138.5(FBN1):c.8232G>C (p.Gln2744His)
|
rs376119827
|
|
NM_000138.5(FBN1):c.8377T>C (p.Tyr2793His)
|
rs113722038
|
|
NM_000138.5(FBN1):c.8416dup (p.Ile2806fs)
|
rs1555393538
|
|
NM_000138.5(FBN1):c.8516dup (p.Lys2840fs)
|
rs1555393514
|
|
NM_000138.5(FBN1):c.8521G>T (p.Glu2841Ter)
|
rs587782948
|
|
NM_000138.5(FBN1):c.8525_8529del (p.Leu2842fs)
|
rs1064794130
|
|
NM_000138.5(FBN1):c.871G>T (p.Glu291Ter)
|
rs1232880706
|
|
NM_000138.5(FBN1):c.911G>A (p.Cys304Tyr)
|
rs1555401011
|
|
NM_000138.5(FBN1):c.961_962del (p.Thr321fs)
|
rs1555401002
|
|
Single allele
|
|
|