NM_000138.5(FBN1):c.*730G>T
|
rs13598
|
0.89602
|
NM_000138.5(FBN1):c.*2158G>A
|
rs11070641
|
0.75090
|
NM_000138.5(FBN1):c.*1575T>G
|
rs4775760
|
0.68134
|
NM_000138.5(FBN1):c.*314C>T
|
rs1042078
|
0.63415
|
NM_000138.5(FBN1):c.1875T>C (p.Asn625=)
|
rs25458
|
0.25074
|
NM_000138.5(FBN1):c.3464-5G>A
|
rs11853943
|
0.16287
|
NM_000138.5(FBN1):c.156G>T (p.Ala52=)
|
rs25398
|
0.06859
|
NM_000138.4(FBN1):c.-388C>T
|
rs3825792
|
0.06008
|
NM_000138.5(FBN1):c.*2040T>C
|
rs73390272
|
0.03120
|
NM_000138.5(FBN1):c.*1959G>A
|
rs12050562
|
0.03119
|
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.*57A>G
|
rs363849
|
0.01992
|
NM_000138.5(FBN1):c.3082+6A>G
|
rs79321504
|
0.01406
|
NM_000138.5(FBN1):c.*1989C>T
|
rs56194244
|
0.01330
|
NM_000138.5(FBN1):c.*1368A>G
|
rs77212138
|
0.01328
|
NM_000138.5(FBN1):c.3442C>G (p.Pro1148Ala)
|
rs140598
|
0.01315
|
NM_000138.5(FBN1):c.3294C>T (p.Asp1098=)
|
rs140587
|
0.01051
|
NM_000138.5(FBN1):c.3965-8T>C
|
rs140637
|
0.00859
|
NM_000138.5(FBN1):c.*867G>T
|
rs189749406
|
0.00798
|
NM_000138.5(FBN1):c.986T>C (p.Ile329Thr)
|
rs12324002
|
0.00737
|
NM_000138.5(FBN1):c.*2153A>G
|
rs116443051
|
0.00654
|
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.1029G>A (p.Gly343=)
|
rs75655780
|
0.00545
|
NM_000138.5(FBN1):c.6393C>T (p.Cys2131=)
|
rs61730051
|
0.00522
|
NM_000138.5(FBN1):c.*1580G>A
|
rs17352989
|
0.00504
|
NM_000138.5(FBN1):c.*2674T>A
|
rs142196699
|
0.00484
|
NM_000138.5(FBN1):c.*1084T>C
|
rs3803350
|
0.00464
|
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.*1298C>G
|
rs143446014
|
0.00360
|
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.*2524A>G
|
rs75372203
|
0.00254
|
NM_000138.5(FBN1):c.*1245C>T
|
rs181099623
|
0.00207
|
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.*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.-176A>T
|
rs560004254
|
0.00145
|
NM_000138.5(FBN1):c.*2398G>T
|
rs377530465
|
0.00135
|
NM_000138.5(FBN1):c.3463+3A>G
|
rs80344206
|
0.00128
|
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.*2045G>A
|
rs372254135
|
0.00106
|
NM_000138.5(FBN1):c.*2024A>G
|
rs558488257
|
0.00103
|
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.*2091G>A
|
rs575922741
|
0.00073
|
NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp)
|
rs61746008
|
0.00070
|
NM_000138.5(FBN1):c.*779C>T
|
rs113200355
|
0.00064
|
NM_000138.5(FBN1):c.3422C>T (p.Pro1141Leu)
|
rs2228241
|
0.00054
|
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.*43A>T
|
rs144710695
|
0.00043
|
NM_000138.5(FBN1):c.3890A>G (p.Glu1297Gly)
|
rs200342067
|
0.00043
|
NM_000138.5(FBN1):c.2895G>A (p.Glu965=)
|
rs140591
|
0.00038
|
NM_000138.5(FBN1):c.*2395G>A
|
rs184719603
|
0.00035
|
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala)
|
rs201273753
|
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.*1720C>T
|
rs557301792
|
0.00029
|
NM_000138.5(FBN1):c.2175T>C (p.Asn725=)
|
rs140606
|
0.00029
|
NM_000138.5(FBN1):c.-136G>C
|
rs879283668
|
0.00027
|
NM_000138.5(FBN1):c.*1949T>C
|
rs534577080
|
0.00026
|
NM_000138.5(FBN1):c.*1706C>A
|
rs770825180
|
0.00024
|
NM_000138.5(FBN1):c.*2360C>G
|
rs144404153
|
0.00024
|
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.1027G>A (p.Gly343Arg)
|
rs146726731
|
0.00021
|
NM_000138.5(FBN1):c.79G>A (p.Ala27Thr)
|
rs25397
|
0.00019
|
NM_000138.5(FBN1):c.3590-8T>C
|
rs140600
|
0.00018
|
NM_000138.5(FBN1):c.902G>T (p.Gly301Val)
|
rs142888621
|
0.00018
|
NM_000138.5(FBN1):c.*1228T>C
|
rs372333234
|
0.00016
|
NM_000138.5(FBN1):c.1371C>G (p.Arg457=)
|
rs25436
|
0.00015
|
NM_000138.5(FBN1):c.3423G>A (p.Pro1141=)
|
rs140396599
|
0.00015
|
NM_000138.5(FBN1):c.7056C>T (p.Ser2352=)
|
rs149697299
|
0.00015
|
NM_000138.5(FBN1):c.3936C>T (p.Ser1312=)
|
rs779913610
|
0.00014
|
NM_000138.5(FBN1):c.5917+3A>G
|
rs202158568
|
0.00014
|
NM_000138.5(FBN1):c.7661G>A (p.Arg2554Gln)
|
rs199522781
|
0.00014
|
NM_014694.4(ADAMTSL2):c.1198G>A (p.Gly400Ser)
|
rs886063639
|
0.00014
|
NM_000138.5(FBN1):c.6576C>T (p.Cys2192=)
|
rs369058466
|
0.00012
|
NM_000138.5(FBN1):c.1821T>C (p.Asp607=)
|
rs149133920
|
0.00011
|
NM_000138.5(FBN1):c.4214T>G (p.Leu1405Arg)
|
rs767606368
|
0.00011
|
NM_000138.5(FBN1):c.-98G>T
|
rs886051254
|
0.00010
|
NM_000138.5(FBN1):c.2094G>T (p.Pro698=)
|
rs144775475
|
0.00010
|
NM_000138.5(FBN1):c.3337+11G>A
|
rs368726848
|
0.00009
|
NM_000138.5(FBN1):c.396T>C (p.Asp132=)
|
rs147481356
|
0.00009
|
NM_000138.5(FBN1):c.7846A>G (p.Ile2616Val)
|
rs143677764
|
0.00009
|
NM_000138.5(FBN1):c.3171C>T (p.Ser1057=)
|
rs144400069
|
0.00008
|
NM_000138.5(FBN1):c.*254C>T
|
rs886051243
|
0.00006
|
NM_000138.5(FBN1):c.4211-10C>T
|
rs28730793
|
0.00006
|
NM_000138.5(FBN1):c.5672-15C>G
|
rs776163620
|
0.00006
|
NM_000138.5(FBN1):c.7516G>A (p.Gly2506Ser)
|
rs756295016
|
0.00006
|
NM_000138.5(FBN1):c.8071G>A (p.Gly2691Ser)
|
rs145105768
|
0.00006
|
NM_000138.5(FBN1):c.8310C>T (p.His2770=)
|
rs112189340
|
0.00006
|
NM_000138.5(FBN1):c.247+10T>C
|
rs367618012
|
0.00005
|
NM_000138.5(FBN1):c.4321G>A (p.Gly1441Arg)
|
rs372118067
|
0.00005
|
NM_000138.5(FBN1):c.7820-4G>A
|
rs750036723
|
0.00005
|
NM_000138.5(FBN1):c.8149G>A (p.Glu2717Lys)
|
rs187553035
|
0.00005
|
NM_000138.5(FBN1):c.*1325T>C
|
rs569152308
|
0.00004
|
NM_000138.5(FBN1):c.*2221A>G
|
rs886051226
|
0.00004
|
NM_000138.5(FBN1):c.1602T>C (p.Cys534=)
|
rs377386372
|
0.00004
|
NM_000138.5(FBN1):c.1884C>T (p.Cys628=)
|
rs150421653
|
0.00004
|
NM_000138.5(FBN1):c.3896C>T (p.Thr1299Met)
|
rs774851476
|
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.*1619T>A
|
rs374297351
|
0.00003
|
NM_000138.5(FBN1):c.*1672G>A
|
rs886051231
|
0.00003
|
NM_000138.5(FBN1):c.*2556G>A
|
rs886051221
|
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.*1398G>C
|
rs886051234
|
0.00002
|
NM_000138.5(FBN1):c.*1484C>T
|
rs533502309
|
0.00002
|
NM_000138.5(FBN1):c.2950G>A (p.Val984Ile)
|
rs747713929
|
0.00002
|
NM_000138.5(FBN1):c.6095C>G (p.Thr2032Ser)
|
rs756506237
|
0.00002
|
NM_000138.5(FBN1):c.6379+4A>G
|
rs780370404
|
0.00002
|
NM_000138.4(FBN1):c.-319G>T
|
rs886051256
|
0.00001
|
NM_000138.5(FBN1):c.*1437G>A
|
rs549498511
|
0.00001
|
NM_000138.5(FBN1):c.*202_*203del
|
rs766125141
|
0.00001
|
NM_000138.5(FBN1):c.*764G>A
|
rs55717426
|
0.00001
|
NM_000138.5(FBN1):c.1837+9T>C
|
rs56102085
|
0.00001
|
NM_000138.5(FBN1):c.2979C>T (p.Cys993=)
|
rs150126098
|
0.00001
|
NM_000138.5(FBN1):c.3089A>G (p.Asn1030Ser)
|
rs375996640
|
0.00001
|
NM_000138.5(FBN1):c.3570C>T (p.Pro1190=)
|
rs188317014
|
0.00001
|
NM_000138.5(FBN1):c.3740A>T (p.Asn1247Ile)
|
rs568625812
|
0.00001
|
NM_000138.5(FBN1):c.4306G>A (p.Val1436Met)
|
rs377338217
|
0.00001
|
NM_000138.5(FBN1):c.4313G>A (p.Ser1438Asn)
|
rs587782945
|
0.00001
|
NM_000138.5(FBN1):c.4336+11G>A
|
rs886051249
|
0.00001
|
NM_000138.5(FBN1):c.8227-3C>T
|
rs200822151
|
0.00001
|
NM_000138.5(FBN1):c.91G>A (p.Ala31Thr)
|
rs371130701
|
0.00001
|
NM_000138.4(FBN1):c.-371T>C
|
rs886051257
|
|
NM_000138.4(FBN1):c.-389_-388TC[1]
|
rs886051258
|
|
NM_000138.5(FBN1):c.*1007G>T
|
rs886051236
|
|
NM_000138.5(FBN1):c.*1396C>T
|
rs886051235
|
|
NM_000138.5(FBN1):c.*1477C>A
|
rs886051233
|
|
NM_000138.5(FBN1):c.*1562G>T
|
rs78442438
|
|
NM_000138.5(FBN1):c.*1635C>A
|
rs886051232
|
|
NM_000138.5(FBN1):c.*1733A>G
|
rs886051230
|
|
NM_000138.5(FBN1):c.*1943G>T
|
rs886051229
|
|
NM_000138.5(FBN1):c.*1950dup
|
rs535798341
|
|
NM_000138.5(FBN1):c.*2078G>T
|
rs886051228
|
|
NM_000138.5(FBN1):c.*2114T>A
|
rs886051227
|
|
NM_000138.5(FBN1):c.*2260C>A
|
rs886051225
|
|
NM_000138.5(FBN1):c.*2421C>A
|
rs886051224
|
|
NM_000138.5(FBN1):c.*2443G>T
|
rs886051223
|
|
NM_000138.5(FBN1):c.*2533C>A
|
rs886051222
|
|
NM_000138.5(FBN1):c.*2578C>T
|
rs761025257
|
|
NM_000138.5(FBN1):c.*2594G>T
|
rs886051220
|
|
NM_000138.5(FBN1):c.*2638T>C
|
rs886051219
|
|
NM_000138.5(FBN1):c.*268G>C
|
rs886051242
|
|
NM_000138.5(FBN1):c.*286C>T
|
rs886051241
|
|
NM_000138.5(FBN1):c.*406G>T
|
rs886051240
|
|
NM_000138.5(FBN1):c.*724A>C
|
rs886051239
|
|
NM_000138.5(FBN1):c.*938G>T
|
rs886051238
|
|
NM_000138.5(FBN1):c.*948G>T
|
rs749224599
|
|
NM_000138.5(FBN1):c.*960del
|
rs527621676
|
|
NM_000138.5(FBN1):c.*967C>T
|
rs56024388
|
|
NM_000138.5(FBN1):c.*987C>T
|
rs886051237
|
|
NM_000138.5(FBN1):c.-132A>C
|
rs886051255
|
|
NM_000138.5(FBN1):c.-35C>T
|
rs199781948
|
|
NM_000138.5(FBN1):c.-70C>A
|
rs886051253
|
|
NM_000138.5(FBN1):c.1193G>A (p.Arg398Lys)
|
rs886051250
|
|
NM_000138.5(FBN1):c.1468+4C>A
|
rs765579667
|
|
NM_000138.5(FBN1):c.223C>T (p.Pro75Ser)
|
rs886051252
|
|
NM_000138.5(FBN1):c.2903C>T (p.Thr968Ile)
|
rs781698952
|
|
NM_000138.5(FBN1):c.3712+9G>T
|
rs769251450
|
|
NM_000138.5(FBN1):c.38T>G (p.Phe13Cys)
|
rs773614956
|
|
NM_000138.5(FBN1):c.4998C>T (p.Thr1666=)
|
rs141925790
|
|
NM_000138.5(FBN1):c.5066-14dup
|
rs3833018
|
|
NM_000138.5(FBN1):c.5183C>T (p.Ala1728Val)
|
rs1131691804
|
|
NM_000138.5(FBN1):c.5405A>G (p.Lys1802Arg)
|
rs886051248
|
|
NM_000138.5(FBN1):c.5788+4C>A
|
rs577301285
|
|
NM_000138.5(FBN1):c.589G>C (p.Gly197Arg)
|
rs886051251
|
|
NM_000138.5(FBN1):c.6264G>C (p.Lys2088Asn)
|
rs886051247
|
|
NM_000138.5(FBN1):c.6357G>C (p.Val2119=)
|
rs886051246
|
|
NM_000138.5(FBN1):c.6801C>T (p.Asn2267=)
|
rs886051245
|
|
NM_000138.5(FBN1):c.6832C>T (p.Pro2278Ser)
|
rs363835
|
|
NM_000138.5(FBN1):c.723G>A (p.Thr241=)
|
rs757264206
|
|
NM_000138.5(FBN1):c.8011C>T (p.Leu2671=)
|
rs886051244
|
|
NM_000138.5(FBN1):c.8185A>C (p.Lys2729Gln)
|
rs370096856
|
|
NM_014694.4(ADAMTSL2):c.*291del
|
rs67336169
|
|
NM_014694.4(ADAMTSL2):c.-212dup
|
rs539826426
|
|
NM_014694.4(ADAMTSL2):c.1355TCT[1] (p.Phe453del)
|
rs886063641
|
|