NM_003238.6(TGFB2):c.-784A>C
|
rs1557153
|
0.99928
|
NM_001999.4(FBN2):c.*635A>G
|
rs27858
|
0.97464
|
NM_000138.5(FBN1):c.*730G>T
|
rs13598
|
0.89602
|
NM_005902.4(SMAD3):c.309A>G (p.Leu103=)
|
rs1065080
|
0.87365
|
NM_000138.5(FBN1):c.*2158G>A
|
rs11070641
|
0.75090
|
NM_001999.4(FBN2):c.7200T>C (p.Ser2400=)
|
rs190450
|
0.69111
|
NM_001999.4(FBN2):c.5675-9C>T
|
rs27713
|
0.68788
|
NM_000138.5(FBN1):c.*1575T>G
|
rs4775760
|
0.68134
|
NM_001999.4(FBN2):c.2893G>A (p.Val965Ile)
|
rs154001
|
0.68054
|
NM_000138.5(FBN1):c.6997+17C>G
|
rs363832
|
0.67656
|
NM_000138.5(FBN1):c.*314C>T
|
rs1042078
|
0.63415
|
NM_001999.4(FBN2):c.533-2432T>C
|
rs17677603
|
0.50039
|
NM_001999.4(FBN2):c.6880+17G>A
|
rs2042327
|
0.45423
|
NM_001999.4(FBN2):c.-309A>G
|
rs7732639
|
0.45240
|
NM_003238.6(TGFB2):c.-677T>C
|
rs112369231
|
0.39003
|
NM_003238.6(TGFB2):c.*747A>C
|
rs991967
|
0.37303
|
NM_003238.6(TGFB2):c.*2431C>G
|
rs1046017
|
0.37219
|
NM_003238.6(TGFB2):c.*1310C>T
|
rs1418556
|
0.37003
|
NM_003238.6(TGFB2):c.*2839G>A
|
rs6704255
|
0.35183
|
NM_003238.6(TGFB2):c.*3196C>T
|
rs6683598
|
0.34937
|
NM_003242.6(TGFBR2):c.263+7A>G
|
rs1155705
|
0.34308
|
NM_003238.6(TGFB2):c.*201A>T
|
rs900
|
0.32524
|
NM_005902.4(SMAD3):c.*2227G>A
|
rs11638476
|
0.31592
|
NM_004612.4(TGFBR1):c.*4578T>G
|
rs1590
|
0.28501
|
NM_004612.4(TGFBR1):c.*884A>G
|
rs334348
|
0.28211
|
NM_001999.4(FBN2):c.*733T>A
|
rs13305
|
0.27788
|
NM_004612.4(TGFBR1):c.*2800G>A
|
rs334349
|
0.27616
|
NM_001999.4(FBN2):c.*1415G>A
|
rs1050687
|
0.26267
|
NM_003242.6(TGFBR2):c.455-4T>A
|
rs11466512
|
0.25954
|
NM_004612.4(TGFBR1):c.*2103_*2104insG
|
rs36064078
|
0.25780
|
NM_000138.5(FBN1):c.1875T>C (p.Asn625=)
|
rs25458
|
0.25074
|
NM_004612.4(TGFBR1):c.1255+24G>A
|
rs334354
|
0.22164
|
NM_005902.4(SMAD3):c.-15G>A
|
rs1061427
|
0.22024
|
NM_005902.4(SMAD3):c.*2793C>T
|
rs3743342
|
0.19499
|
NM_005902.4(SMAD3):c.*2282C>T
|
rs12595334
|
0.19274
|
NM_005902.4(SMAD3):c.*1423C>T
|
rs2278670
|
0.19250
|
NM_005902.4(SMAD3):c.*1105G>A
|
rs8031440
|
0.19244
|
NM_005902.4(SMAD3):c.*1245G>A
|
rs8031627
|
0.19233
|
NM_005902.4(SMAD3):c.*402C>T
|
rs8025774
|
0.19194
|
NM_005902.4(SMAD3):c.207-14637C>T
|
rs17293632
|
0.17469
|
NM_004612.4(TGFBR1):c.*69A>G
|
rs868
|
0.17222
|
NM_001999.4(FBN2):c.952+4177C>T
|
rs13180243
|
0.16937
|
NM_004612.4(TGFBR1):c.*3286G>C
|
rs420549
|
0.16407
|
NM_000138.5(FBN1):c.3464-5G>A
|
rs11853943
|
0.16287
|
NM_001999.4(FBN2):c.111G>A (p.Pro37=)
|
rs55715053
|
0.14249
|
NM_001999.4(FBN2):c.6511+15A>G
|
rs56131649
|
0.14023
|
NM_001999.4(FBN2):c.*1277G>A
|
rs7288
|
0.13531
|
NM_001999.4(FBN2):c.8274C>T (p.Ser2758=)
|
rs10070365
|
0.13267
|
NM_004612.4(TGFBR1):c.*2103T>G
|
rs7871490
|
0.12488
|
NM_001999.4(FBN2):c.6931A>G (p.Met2311Val)
|
rs32209
|
0.11103
|
NM_003238.6(TGFB2):c.-714A>C
|
rs73110310
|
0.10708
|
NM_003242.6(TGFBR2):c.-128C>G
|
rs2306856
|
0.10667
|
NM_001999.4(FBN2):c.183C>G (p.Pro61=)
|
rs73348287
|
0.10581
|
NM_003242.6(TGFBR2):c.*747C>G
|
rs11466531
|
0.10463
|
NM_003238.6(TGFB2):c.*1624T>A
|
rs3737977
|
0.10338
|
NM_001999.4(FBN2):c.5823T>C (p.His1941=)
|
rs11955288
|
0.09446
|
NM_001999.4(FBN2):c.4718-13T>C
|
rs10044959
|
0.07765
|
NM_004612.4(TGFBR1):c.*4489T>C
|
rs7850895
|
0.07302
|
NM_003242.6(TGFBR2):c.*1809A>G
|
rs6550008
|
0.07275
|
NM_001999.4(FBN2):c.7739C>T (p.Ser2580Leu)
|
rs2291628
|
0.07011
|
NM_001999.4(FBN2):c.7013-5T>C
|
rs28763927
|
0.06995
|
NM_000138.5(FBN1):c.156G>T (p.Ala52=)
|
rs25398
|
0.06859
|
NM_001032283.3(TMPO):c.565+2214C>G
|
rs17459334
|
0.06758
|
NM_000138.4(FBN1):c.-388C>T
|
rs3825792
|
0.06008
|
NM_003036.4(SKI):c.185C>G (p.Ala62Gly)
|
rs28384811
|
0.05253
|
NM_001999.4(FBN2):c.5675-9del
|
rs112666443
|
0.05000
|
NM_003242.6(TGFBR2):c.*1521G>A
|
rs11466533
|
0.04903
|
NM_003242.6(TGFBR2):c.*2085T>A
|
rs11466537
|
0.04867
|
NM_001999.4(FBN2):c.6292+12C>A
|
rs10042349
|
0.04495
|
NM_001999.4(FBN2):c.*819A>G
|
rs72783099
|
0.03528
|
NM_001032283.3(TMPO):c.565+1369C>G
|
rs35969221
|
0.03471
|
NM_005902.4(SMAD3):c.508A>G (p.Ile170Val)
|
rs35874463
|
0.03414
|
NM_001999.4(FBN2):c.203C>T (p.Ala68Val)
|
rs62390671
|
0.03303
|
NM_003238.6(TGFB2):c.*1502T>C
|
rs17500758
|
0.03234
|
NM_004612.4(TGFBR1):c.*2112G>T
|
rs60885995
|
0.03132
|
NM_000138.5(FBN1):c.*2040T>C
|
rs73390272
|
0.03120
|
NM_000138.5(FBN1):c.*1959G>A
|
rs12050562
|
0.03119
|
NM_003238.6(TGFB2):c.-1302A>G
|
rs10482718
|
0.03064
|
NM_003242.6(TGFBR2):c.1167C>T (p.Asn389=)
|
rs2228048
|
0.03013
|
NM_003242.6(TGFBR2):c.1266A>G (p.Ala422=)
|
rs2228047
|
0.02974
|
NM_000138.5(FBN1):c.6855T>C (p.Asp2285=)
|
rs363836
|
0.02755
|
NM_003242.6(TGFBR2):c.999A>G (p.Leu333=)
|
rs2229102
|
0.02537
|
NM_001999.4(FBN2):c.-435C>T
|
rs78230270
|
0.02535
|
NM_001999.4(FBN2):c.8733C>G (p.Leu2911=)
|
rs34383505
|
0.02500
|
NM_003242.6(TGFBR2):c.*1833A>C
|
rs1803446
|
0.02445
|
NM_001999.4(FBN2):c.4098A>C (p.Thr1366=)
|
rs28763943
|
0.02427
|
NM_000138.5(FBN1):c.6888G>A (p.Gln2296=)
|
rs363830
|
0.02418
|
NM_004612.4(TGFBR1):c.*3225G>A
|
rs3739798
|
0.02363
|
NM_000138.5(FBN1):c.7819+8A>C
|
rs363838
|
0.02324
|
NM_003238.6(TGFB2):c.*39G>A
|
rs11466412
|
0.02203
|
NM_003238.6(TGFB2):c.*2188T>C
|
rs17047869
|
0.02183
|
NM_001032283.3(TMPO):c.565+1665A>G
|
rs11838270
|
0.02179
|
NM_004612.4(TGFBR1):c.*4300C>T
|
rs41283642
|
0.02037
|
NM_000138.5(FBN1):c.*57A>G
|
rs363849
|
0.01992
|
NM_004612.4(TGFBR1):c.*4499G>A
|
rs79641064
|
0.01970
|
NM_000138.5(FBN1):c.1960+30G>A
|
rs25459
|
0.01932
|
NM_001032283.3(TMPO):c.565+1296T>G
|
rs35645287
|
0.01895
|
NM_001999.4(FBN2):c.3015G>A (p.Leu1005=)
|
rs28763946
|
0.01862
|
NM_005901.6(SMAD2):c.828G>A (p.Ser276=)
|
rs1051066
|
0.01853
|
NM_000138.5(FBN1):c.2420-58del
|
rs149403312
|
0.01826
|
NM_001032283.3(TMPO):c.565+1132T>G
|
rs35998138
|
0.01742
|
NM_001032283.3(TMPO):c.565+1853G>C
|
rs35761089
|
0.01735
|
NM_003238.6(TGFB2):c.*1443T>A
|
rs60086269
|
0.01705
|
NM_005902.4(SMAD3):c.-28C>T
|
rs144374592
|
0.01666
|
NM_005902.4(SMAD3):c.*843G>A
|
rs55970514
|
0.01590
|
NM_000138.5(FBN1):c.4460-19A>G
|
rs55840194
|
0.01556
|
NM_005902.4(SMAD3):c.870C>T (p.Ile290=)
|
rs117185005
|
0.01464
|
NM_003238.6(TGFB2):c.643+7A>C
|
rs7531245
|
0.01418
|
NM_000138.5(FBN1):c.3082+6A>G
|
rs79321504
|
0.01406
|
NM_003036.4(SKI):c.99C>G (p.Gly33=)
|
rs200019352
|
0.01364
|
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_001032283.3(TMPO):c.565+2051T>A
|
rs12316677
|
0.01280
|
NM_004612.4(TGFBR1):c.*2703G>A
|
rs76392135
|
0.01278
|
NM_001032283.3(TMPO):c.565+1890T>G
|
rs80325832
|
0.01253
|
NM_001032283.3(TMPO):c.565+1344G>C
|
rs114939776
|
0.01252
|
NM_003242.6(TGFBR2):c.*330C>A
|
rs304840
|
0.01221
|
NM_003036.4(SKI):c.294C>T (p.Thr98=)
|
rs115746142
|
0.01188
|
NM_003242.6(TGFBR2):c.*1880G>A
|
rs11466534
|
0.01174
|
NM_003238.6(TGFB2):c.*1128G>A
|
rs56271792
|
0.01172
|
NM_003239.5(TGFB3):c.1122C>G (p.Ala374=)
|
rs4252345
|
0.01156
|
NM_005902.4(SMAD3):c.*419G>T
|
rs78329172
|
0.01117
|
NM_005902.4(SMAD3):c.*2229A>G
|
rs188412401
|
0.01091
|
NM_001999.4(FBN2):c.*1132A>G
|
rs77373296
|
0.01086
|
NM_003238.6(TGFB2):c.-1016C>T
|
rs11466365
|
0.01071
|
NM_003238.6(TGFB2):c.*2564A>G
|
rs77808075
|
0.01063
|
NM_000138.5(FBN1):c.3294C>T (p.Asp1098=)
|
rs140587
|
0.01051
|
NM_003238.6(TGFB2):c.-620G>A
|
rs886045971
|
0.01029
|
NM_003242.6(TGFBR2):c.*835C>A
|
rs17026332
|
0.00994
|
NM_001999.4(FBN2):c.2778C>T (p.Ala926=)
|
rs28763948
|
0.00992
|
NM_003036.4(SKI):c.456C>T (p.Arg152=)
|
rs149898447
|
0.00976
|
NM_003238.6(TGFB2):c.*1585C>G
|
rs17047863
|
0.00958
|
NM_001999.4(FBN2):c.-262C>T
|
rs540026322
|
0.00943
|
NM_003242.6(TGFBR2):c.*1354C>T
|
rs11466532
|
0.00943
|
NM_003036.4(SKI):c.1211+11G>A
|
rs115186522
|
0.00934
|
NM_003238.6(TGFB2):c.-1230G>A
|
rs11466363
|
0.00928
|
NM_001999.4(FBN2):c.1466-5C>T
|
rs28763952
|
0.00887
|
NM_001999.4(FBN2):c.7296G>T (p.Gln2432His)
|
rs34600572
|
0.00870
|
NM_000138.5(FBN1):c.3965-8T>C
|
rs140637
|
0.00859
|
NM_004612.4(TGFBR1):c.*1428G>C
|
rs11568811
|
0.00845
|
NM_001999.4(FBN2):c.4312G>A (p.Glu1438Lys)
|
rs56168072
|
0.00832
|
NM_003242.5(TGFBR2):c.-302A>G
|
rs138010137
|
0.00832
|
NM_000138.5(FBN1):c.*867G>T
|
rs189749406
|
0.00798
|
NM_001999.4(FBN2):c.3166G>T (p.Ala1056Ser)
|
rs28763945
|
0.00784
|
NM_000138.5(FBN1):c.986T>C (p.Ile329Thr)
|
rs12324002
|
0.00737
|
NM_001999.4(FBN2):c.728T>C (p.Ile243Thr)
|
rs117524265
|
0.00674
|
NM_004612.4(TGFBR1):c.*2645A>C
|
rs17724567
|
0.00660
|
NM_005902.4(SMAD3):c.*3037C>G
|
rs145645018
|
0.00655
|
NM_000138.5(FBN1):c.*2153A>G
|
rs116443051
|
0.00654
|
NM_001999.4(FBN2):c.976C>T (p.Pro326Ser)
|
rs28763954
|
0.00654
|
NM_001999.4(FBN2):c.8154C>T (p.Leu2718=)
|
rs34119447
|
0.00635
|
NM_003036.4(SKI):c.1974C>T (p.Arg658=)
|
rs201895384
|
0.00623
|
NM_001999.4(FBN2):c.629-9A>G
|
rs56025995
|
0.00616
|
NM_001999.4(FBN2):c.8347G>C (p.Glu2783Gln)
|
rs76756898
|
0.00599
|
NM_001032283.3(TMPO):c.225G>A (p.Pro75=)
|
rs59027673
|
0.00590
|
NM_003238.6(TGFB2):c.*1273T>C
|
rs143593418
|
0.00586
|
NM_001032283.3(TMPO):c.565+2487C>T
|
rs17028450
|
0.00576
|
NM_003238.6(TGFB2):c.-288A>T
|
rs116531760
|
0.00572
|
NM_001999.4(FBN2):c.3762C>T (p.Asp1254=)
|
rs2279582
|
0.00570
|
NM_003036.4(SKI):c.1446G>A (p.Ala482=)
|
rs114345135
|
0.00570
|
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_001999.4(FBN2):c.1285A>G (p.Ser429Gly)
|
rs115242287
|
0.00534
|
NM_000138.5(FBN1):c.6393C>T (p.Cys2131=)
|
rs61730051
|
0.00522
|
NM_000138.5(FBN1):c.*1580G>A
|
rs17352989
|
0.00504
|
NM_004612.4(TGFBR1):c.*360A>G
|
rs145692006
|
0.00493
|
NM_003238.6(TGFB2):c.*969T>C
|
rs187495965
|
0.00490
|
NM_000138.5(FBN1):c.*2674T>A
|
rs142196699
|
0.00484
|
NM_004612.4(TGFBR1):c.*2081G>T
|
rs200898127
|
0.00465
|
NM_000138.5(FBN1):c.*1084T>C
|
rs3803350
|
0.00464
|
NM_003239.5(TGFB3):c.39C>T (p.Ala13=)
|
rs11466415
|
0.00461
|
NM_003238.6(TGFB2):c.*1684G>C
|
rs192396801
|
0.00452
|
NM_003242.6(TGFBR2):c.*858C>T
|
rs142745018
|
0.00443
|
NM_000138.5(FBN1):c.6594C>T (p.Pro2198=)
|
rs111844882
|
0.00439
|
NM_003242.6(TGFBR2):c.*1507A>G
|
rs139938413
|
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_001999.4(FBN2):c.6000A>G (p.Leu2000=)
|
rs148293104
|
0.00434
|
NM_003242.6(TGFBR2):c.*599C>A
|
rs79755385
|
0.00431
|
NM_001999.4(FBN2):c.1040G>A (p.Arg347His)
|
rs112428886
|
0.00427
|
NM_001999.4(FBN2):c.6512-17G>C
|
rs28763932
|
0.00427
|
NM_001999.4(FBN2):c.6615C>T (p.Asp2205=)
|
rs28763931
|
0.00422
|
NM_003242.6(TGFBR2):c.*1815C>T
|
rs146296952
|
0.00421
|
NM_003036.4(SKI):c.1834C>T (p.Leu612=)
|
rs35833638
|
0.00418
|
NM_003242.6(TGFBR2):c.*149A>T
|
rs143024112
|
0.00415
|
NM_003036.4(SKI):c.1163C>T (p.Ala388Val)
|
rs75280988
|
0.00410
|
NM_004612.4(TGFBR1):c.*3261T>C
|
rs117440593
|
0.00406
|
NM_001999.4(FBN2):c.5496C>T (p.Arg1832=)
|
rs35346129
|
0.00388
|
NM_003242.6(TGFBR2):c.*105G>A
|
rs149112005
|
0.00377
|
NM_004612.4(TGFBR1):c.*3262C>T
|
rs78385793
|
0.00377
|
NM_000138.5(FBN1):c.306C>T (p.Cys102=)
|
rs25388
|
0.00372
|
NM_004612.4(TGFBR1):c.*2092G>T
|
rs199545273
|
0.00369
|
NM_001999.4(FBN2):c.6511+5G>A
|
rs200608284
|
0.00363
|
NM_000138.5(FBN1):c.*1298C>G
|
rs143446014
|
0.00360
|
NM_000138.5(FBN1):c.3082+8del
|
rs193922196
|
0.00359
|
NM_003238.6(TGFB2):c.1239C>T (p.Cys413=)
|
rs141225367
|
0.00359
|
NM_003238.6(TGFB2):c.619G>C (p.Val207Leu)
|
rs10482810
|
0.00359
|
NM_004612.4(TGFBR1):c.*3192T>C
|
rs148797981
|
0.00356
|
NM_001999.4(FBN2):c.7824C>T (p.Thr2608=)
|
rs28763922
|
0.00339
|
NM_003242.6(TGFBR2):c.*2483T>G
|
rs79535432
|
0.00328
|
NM_001999.4(FBN2):c.4141C>A (p.His1381Asn)
|
rs78727187
|
0.00327
|
NM_000138.5(FBN1):c.2678-15C>T
|
rs181681840
|
0.00324
|
NM_003036.4(SKI):c.1410C>T (p.Pro470=)
|
rs150985728
|
0.00322
|
NM_000093.5(COL5A1):c.278C>T (p.Ala93Val)
|
rs41306397
|
0.00315
|
NM_000138.5(FBN1):c.8283A>T (p.Thr2761=)
|
rs146120912
|
0.00314
|
NM_005902.4(SMAD3):c.*1777_*1778insCCT
|
rs369386357
|
0.00314
|
NM_000138.5(FBN1):c.2055C>T (p.Cys685=)
|
rs140603
|
0.00304
|
NM_003238.6(TGFB2):c.272G>A (p.Arg91His)
|
rs10482721
|
0.00297
|
NM_004612.4(TGFBR1):c.1125A>C (p.Thr375=)
|
rs7861780
|
0.00288
|
NM_001999.4(FBN2):c.7181T>C (p.Ile2394Thr)
|
rs28763926
|
0.00287
|
NM_001032283.3(TMPO):c.565+1240G>A
|
rs139700737
|
0.00284
|
NM_004612.4(TGFBR1):c.*1515G>A
|
rs11568812
|
0.00279
|
NM_001999.4(FBN2):c.*1532G>A
|
rs191801589
|
0.00278
|
NM_004612.4(TGFBR1):c.*4202A>G
|
rs200206515
|
0.00278
|
NM_001999.4(FBN2):c.-344G>C
|
rs564044015
|
0.00277
|
NM_004612.4(TGFBR1):c.*566T>C
|
rs11568808
|
0.00275
|
NM_004612.4(TGFBR1):c.*4565T>C
|
rs138721378
|
0.00273
|
NM_003036.4(SKI):c.1527C>T (p.Ser509=)
|
rs111935632
|
0.00270
|
NM_005902.4(SMAD3):c.*291G>A
|
rs146287966
|
0.00270
|
NM_000138.5(FBN1):c.7497A>G (p.Leu2499=)
|
rs148516442
|
0.00268
|
NM_005902.4(SMAD3):c.*579del
|
rs550707472
|
0.00264
|
NM_003238.6(TGFB2):c.*2269T>C
|
rs193244018
|
0.00262
|
NM_001999.4(FBN2):c.4206C>T (p.Asn1402=)
|
rs34201226
|
0.00261
|
NM_003238.6(TGFB2):c.-746G>T
|
rs576053414
|
0.00259
|
NM_000138.5(FBN1):c.*2524A>G
|
rs75372203
|
0.00254
|
NM_001999.4(FBN2):c.8247A>G (p.Thr2749=)
|
rs116413101
|
0.00251
|
NM_004612.4(TGFBR1):c.*4493G>A
|
rs41274644
|
0.00250
|
NM_003238.6(TGFB2):c.-644A>G
|
rs747761067
|
0.00246
|
NM_001999.4(FBN2):c.*1191C>T
|
rs557229598
|
0.00234
|
NM_001999.4(FBN2):c.*273T>C
|
rs142804569
|
0.00234
|
NM_003242.6(TGFBR2):c.1525-8C>T
|
rs11466530
|
0.00230
|
NM_001999.4(FBN2):c.2428+6T>A
|
rs77493726
|
0.00225
|
NM_004612.4(TGFBR1):c.*2100T>G
|
rs532530728
|
0.00223
|
NM_005902.4(SMAD3):c.*301C>T
|
rs72661159
|
0.00215
|
NM_003238.6(TGFB2):c.*1315T>G
|
rs577782618
|
0.00214
|
NM_005902.4(SMAD3):c.*2013T>C
|
rs183913368
|
0.00214
|
NM_001999.4(FBN2):c.829G>A (p.Val277Ile)
|
rs146849637
|
0.00210
|
NM_004612.4(TGFBR1):c.*1183G>A
|
rs184564501
|
0.00209
|
NM_000138.5(FBN1):c.*1245C>T
|
rs181099623
|
0.00207
|
NM_001999.4(FBN2):c.7471+6G>A
|
rs200998513
|
0.00205
|
NM_001999.4(FBN2):c.738G>A (p.Ala246=)
|
rs150087436
|
0.00200
|
NM_003242.6(TGFBR2):c.1062C>T (p.Leu354=)
|
rs113194608
|
0.00194
|
NM_001032283.3(TMPO):c.565+1728G>C
|
rs145703021
|
0.00188
|
NM_003242.6(TGFBR2):c.*1886G>T
|
rs11466535
|
0.00188
|
NM_005902.4(SMAD3):c.-23C>T
|
rs36221703
|
0.00185
|
NM_001999.4(FBN2):c.5353+19C>T
|
rs183524866
|
0.00179
|
NM_001999.4(FBN2):c.6551A>T (p.Asn2184Ile)
|
rs149071226
|
0.00178
|
NM_003036.4(SKI):c.1211+19C>T
|
rs182600375
|
0.00178
|
NM_001999.4(FBN2):c.7593A>G (p.Lys2531=)
|
rs28763923
|
0.00175
|
NM_002474.3(MYH11):c.739C>T (p.Arg247Cys)
|
rs150759461
|
0.00174
|
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His)
|
rs137854475
|
0.00168
|
NM_003036.4(SKI):c.2184G>C (p.Pro728=)
|
rs543584871
|
0.00167
|
NM_003242.6(TGFBR2):c.1602G>A (p.Val534=)
|
rs140818646
|
0.00166
|
NM_000138.5(FBN1):c.2420-8T>C
|
rs140582
|
0.00163
|
NM_001999.4(FBN2):c.2940C>T (p.Cys980=)
|
rs143255082
|
0.00158
|
NM_001999.4(FBN2):c.5448A>G (p.Pro1816=)
|
rs138022198
|
0.00158
|
NM_000138.5(FBN1):c.1714+54del
|
rs193922184
|
0.00156
|
NM_004612.4(TGFBR1):c.*4809A>T
|
rs185400896
|
0.00156
|
NM_001032283.3(TMPO):c.87C>T (p.Ala29=)
|
rs114074541
|
0.00153
|
NM_005902.4(SMAD3):c.*1880C>T
|
rs144205938
|
0.00153
|
NM_001999.4(FBN2):c.953-8T>G
|
rs201818403
|
0.00152
|
NM_000138.5(FBN1):c.*1252A>G
|
rs566419089
|
0.00150
|
NM_005902.4(SMAD3):c.*1181C>T
|
rs72661160
|
0.00149
|
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_003036.4(SKI):c.1196C>T (p.Ala399Val)
|
rs141862996
|
0.00148
|
NM_000138.5(FBN1):c.-176A>T
|
rs560004254
|
0.00145
|
NM_001032283.3(TMPO):c.565+1696C>T
|
rs141443652
|
0.00142
|
NM_001999.4(FBN2):c.2260G>A (p.Gly754Ser)
|
rs145259927
|
0.00137
|
NM_001999.4(FBN2):c.2555-7A>G
|
rs28763949
|
0.00137
|
NM_000138.5(FBN1):c.*2398G>T
|
rs377530465
|
0.00135
|
NM_001999.4(FBN2):c.*371T>G
|
rs531108136
|
0.00135
|
NM_001999.4(FBN2):c.4595-11G>C
|
rs199640787
|
0.00135
|
NM_001999.4(FBN2):c.8364+7A>T
|
rs185052980
|
0.00134
|
NM_001999.4(FBN2):c.5675-12_5675-11insG
|
rs150372632
|
0.00133
|
NM_004612.4(TGFBR1):c.*2685T>G
|
rs145043837
|
0.00132
|
NM_003036.4(SKI):c.1338C>T (p.Leu446=)
|
rs148632347
|
0.00130
|
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile)
|
rs35719192
|
0.00130
|
NM_005902.4(SMAD3):c.*1255A>G
|
rs569581429
|
0.00129
|
NM_000138.5(FBN1):c.3463+3A>G
|
rs80344206
|
0.00128
|
NM_003242.6(TGFBR2):c.*742C>T
|
rs17026328
|
0.00125
|
NM_003239.5(TGFB3):c.744C>A (p.Ile248=)
|
rs45477900
|
0.00123
|
NM_001999.4(FBN2):c.255-18C>A
|
rs200300875
|
0.00120
|
NM_001999.4(FBN2):c.8304C>T (p.Asn2768=)
|
rs28763920
|
0.00120
|
NM_001999.4(FBN2):c.1592G>C (p.Gly531Ala)
|
rs34450503
|
0.00117
|
NM_003242.6(TGFBR2):c.*2066G>A
|
rs566913021
|
0.00116
|
NM_000138.5(FBN1):c.6073G>T (p.Ala2025Ser)
|
rs113577372
|
0.00115
|
NM_001999.4(FBN2):c.4791C>T (p.Ile1597=)
|
rs147040906
|
0.00115
|
NM_003242.6(TGFBR2):c.1657T>A (p.Ser553Thr)
|
rs112215250
|
0.00115
|
NM_004612.4(TGFBR1):c.457G>A (p.Val153Ile)
|
rs56014374
|
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_001999.4(FBN2):c.110C>A (p.Pro37Gln)
|
rs201255083
|
0.00110
|
NM_001999.4(FBN2):c.5353+10C>T
|
rs113589974
|
0.00110
|
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_001999.4(FBN2):c.4100-9G>T
|
rs377002313
|
0.00106
|
NM_001999.4(FBN2):c.4949-18C>G
|
rs372234336
|
0.00106
|
NM_000138.5(FBN1):c.*2024A>G
|
rs558488257
|
0.00103
|
NM_001999.4(FBN2):c.3144C>T (p.Tyr1048=)
|
rs1801167
|
0.00102
|
NM_001999.4(FBN2):c.3351C>T (p.Asp1117=)
|
rs78484531
|
0.00102
|
NM_001999.4(FBN2):c.6655A>G (p.Ile2219Val)
|
rs140821039
|
0.00102
|
NM_001999.4(FBN2):c.4222+12A>G
|
rs79445561
|
0.00101
|
NM_001999.4(FBN2):c.3767A>G (p.Gln1256Arg)
|
rs139052603
|
0.00100
|
NM_003239.5(TGFB3):c.164G>A (p.Ser55Asn)
|
rs143229915
|
0.00100
|
NM_001032283.3(TMPO):c.565+2224A>G
|
rs34983516
|
0.00098
|
NM_003036.4(SKI):c.798C>T (p.Ala266=)
|
rs149642284
|
0.00097
|
NM_001999.4(FBN2):c.3273T>C (p.Asn1091=)
|
rs116741030
|
0.00096
|
NM_003239.5(TGFB3):c.34C>T (p.Leu12=)
|
rs143612445
|
0.00096
|
NM_005902.4(SMAD3):c.*2547C>T
|
rs72661161
|
0.00096
|
NM_000138.5(FBN1):c.6837G>A (p.Gly2279=)
|
rs140584234
|
0.00094
|
NM_003239.5(TGFB3):c.293C>T (p.Ser98Leu)
|
rs142047577
|
0.00092
|
NM_004612.4(TGFBR1):c.*4623G>C
|
rs200806851
|
0.00092
|
NM_000138.5(FBN1):c.783T>C (p.Asn261=)
|
rs113721547
|
0.00091
|
NM_003036.4(SKI):c.1851G>A (p.Glu617=)
|
rs146789646
|
0.00091
|
NM_003238.6(TGFB2):c.*1233T>A
|
rs555872587
|
0.00091
|
NM_000138.5(FBN1):c.6987C>G (p.Asp2329Glu)
|
rs363831
|
0.00089
|
NM_001999.4(FBN2):c.-269A>G
|
rs149771492
|
0.00089
|
NM_005902.4(SMAD3):c.*654A>G
|
rs571689385
|
0.00088
|
NM_001999.4(FBN2):c.*514A>C
|
rs551470283
|
0.00087
|
NM_003238.6(TGFB2):c.*720T>C
|
rs544540486
|
0.00087
|
NM_003238.6(TGFB2):c.114G>A (p.Glu38=)
|
rs149215818
|
0.00087
|
NM_000138.5(FBN1):c.6616+17G>A
|
rs363822
|
0.00086
|
NM_005902.4(SMAD3):c.*1805T>C
|
rs191114875
|
0.00086
|
NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg)
|
rs111840783
|
0.00083
|
NM_001999.4(FBN2):c.3974-19T>C
|
rs112950479
|
0.00083
|
NM_003036.4(SKI):c.216C>T (p.Pro72=)
|
rs756778048
|
0.00083
|
NM_005902.4(SMAD3):c.*2242A>G
|
rs117707762
|
0.00083
|
NM_001999.4(FBN2):c.2427T>A (p.Ile809=)
|
rs139686090
|
0.00081
|
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_001999.4(FBN2):c.4647C>T (p.Asn1549=)
|
rs146662880
|
0.00076
|
NM_003036.4(SKI):c.417C>T (p.Ile139=)
|
rs144874401
|
0.00076
|
NM_003239.5(TGFB3):c.646+13T>C
|
rs780891440
|
0.00076
|
NM_003242.6(TGFBR2):c.1458C>T (p.Ser486=)
|
rs139881155
|
0.00075
|
NM_001999.4(FBN2):c.2684A>G (p.Lys895Arg)
|
rs143565958
|
0.00074
|
NM_003238.6(TGFB2):c.-338T>A
|
rs148765724
|
0.00074
|
NM_000138.5(FBN1):c.*2091G>A
|
rs575922741
|
0.00073
|
NM_003238.6(TGFB2):c.303G>A (p.Lys101=)
|
rs147052890
|
0.00072
|
NM_003238.6(TGFB2):c.*2950G>A
|
rs147957308
|
0.00071
|
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_005902.4(SMAD3):c.*1315C>T
|
rs886051391
|
0.00070
|
NM_001032283.3(TMPO):c.350A>G (p.Asn117Ser)
|
rs141387097
|
0.00068
|
NM_001999.4(FBN2):c.436+16G>A
|
rs372098570
|
0.00068
|
NM_004612.4(TGFBR1):c.*1804A>G
|
rs200656974
|
0.00068
|
NM_000138.5(FBN1):c.3077T>C (p.Phe1026Ser)
|
rs200381100
|
0.00067
|
NM_001999.4(FBN2):c.*119C>T
|
rs3805618
|
0.00067
|
NM_001999.4(FBN2):c.132G>C (p.Pro44=)
|
rs199702573
|
0.00067
|
NM_003239.5(TGFB3):c.179C>T (p.Thr60Met)
|
rs4252315
|
0.00066
|
NM_004612.4(TGFBR1):c.*4040T>A
|
rs41283640
|
0.00066
|
NM_003036.4(SKI):c.1593T>C (p.Pro531=)
|
rs144279718
|
0.00065
|
NM_003242.6(TGFBR2):c.*443A>G
|
rs188599299
|
0.00065
|
NM_000138.5(FBN1):c.*779C>T
|
rs113200355
|
0.00064
|
NM_001032283.3(TMPO):c.565+2149C>T
|
rs34150443
|
0.00064
|
NM_003036.4(SKI):c.1308C>T (p.Ala436=)
|
rs139034124
|
0.00064
|
NM_001999.4(FBN2):c.7841-16G>T
|
rs201231807
|
0.00063
|
NM_003238.6(TGFB2):c.823A>G (p.Ser275Gly)
|
rs139825195
|
0.00062
|
NM_000138.5(FBN1):c.*1341C>T
|
rs766719764
|
0.00061
|
NM_001999.4(FBN2):c.1749G>A (p.Gly583=)
|
rs75940000
|
0.00061
|
NM_003238.6(TGFB2):c.-5A>T
|
rs200702935
|
0.00060
|
NM_001032283.3(TMPO):c.565+2368G>A
|
rs138295270
|
0.00058
|
NM_003242.6(TGFBR2):c.*1682A>G
|
rs17026341
|
0.00058
|
NM_005902.4(SMAD3):c.*1583T>G
|
rs577631492
|
0.00058
|
NM_003036.4(SKI):c.1528G>A (p.Ala510Thr)
|
rs61735580
|
0.00056
|
NM_003242.6(TGFBR2):c.*848C>T
|
rs17026336
|
0.00056
|
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_001999.4(FBN2):c.4472-12T>A
|
rs551686237
|
0.00054
|
NM_003238.6(TGFB2):c.357G>A (p.Pro119=)
|
rs138514914
|
0.00054
|
NM_000138.5(FBN1):c.4683C>T (p.Ser1561=)
|
rs148024160
|
0.00053
|
NM_005902.4(SMAD3):c.*1325T>C
|
rs139620908
|
0.00052
|
NM_005902.4(SMAD3):c.*2444A>G
|
rs145102966
|
0.00052
|
NM_005902.4(SMAD3):c.*2995G>A
|
rs140694679
|
0.00052
|
NM_005902.4(SMAD3):c.*318G>A
|
rs79368607
|
0.00052
|
NM_000138.5(FBN1):c.6038-37G>A
|
rs202137580
|
0.00051
|
NM_003239.5(TGFB3):c.517-16T>C
|
rs3917176
|
0.00050
|
NM_000138.5(FBN1):c.7346A>G (p.Asn2449Ser)
|
rs146166400
|
0.00049
|
NM_001999.4(FBN2):c.5674+7A>G
|
rs367877964
|
0.00049
|
NM_001999.4(FBN2):c.8537G>A (p.Arg2846His)
|
rs200345491
|
0.00049
|
NM_003238.6(TGFB2):c.*135G>A
|
rs61762489
|
0.00049
|
NM_000138.5(FBN1):c.5065+10A>G
|
rs375945405
|
0.00048
|
NM_001999.4(FBN2):c.3595G>A (p.Val1199Met)
|
rs146997253
|
0.00048
|
NM_001999.4(FBN2):c.6841A>T (p.Ile2281Phe)
|
rs115223340
|
0.00047
|
NM_003238.6(TGFB2):c.356C>T (p.Pro119Leu)
|
rs149533093
|
0.00047
|
NM_001999.4(FBN2):c.7380C>T (p.Cys2460=)
|
rs147102633
|
0.00046
|
NM_003036.4(SKI):c.1734C>T (p.Ser578=)
|
rs117443908
|
0.00046
|
NM_000138.5(FBN1):c.5296+14G>A
|
rs140650
|
0.00045
|
NM_000138.5(FBN1):c.7098C>T (p.Asp2366=)
|
rs1005074
|
0.00044
|
NM_001999.4(FBN2):c.5675-8dup
|
rs767398234
|
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.645A>C (p.Arg215=)
|
rs200062771
|
0.00043
|
NM_017617.5(NOTCH1):c.3901+3G>A
|
rs373113999
|
0.00043
|
NM_000138.5(FBN1):c.2148A>G (p.Gly716=)
|
rs141039922
|
0.00042
|
NM_001999.4(FBN2):c.7012+7G>A
|
rs199735209
|
0.00042
|
NM_001999.4(FBN2):c.8257G>A (p.Glu2753Lys)
|
rs146781484
|
0.00042
|
NM_001999.4(FBN2):c.1435G>A (p.Gly479Arg)
|
rs147346327
|
0.00041
|
NM_001999.4(FBN2):c.8043C>A (p.Pro2681=)
|
rs149502195
|
0.00041
|
NM_005902.4(SMAD3):c.*2028T>C
|
rs549152312
|
0.00041
|
NM_005902.4(SMAD3):c.207-26779C>T
|
rs539491144
|
0.00041
|
NM_001999.4(FBN2):c.4246A>G (p.Thr1416Ala)
|
rs200837433
|
0.00040
|
NM_004612.4(TGFBR1):c.*2005T>G
|
rs144216869
|
0.00040
|
NM_001999.4(FBN2):c.-338G>A
|
rs776638871
|
0.00039
|
NM_001999.4(FBN2):c.209T>C (p.Val70Ala)
|
rs144149249
|
0.00039
|
NM_003238.6(TGFB2):c.*2053G>A
|
rs530767727
|
0.00039
|
NM_003242.6(TGFBR2):c.*312A>T
|
rs576840706
|
0.00039
|
NM_003242.6(TGFBR2):c.571G>A (p.Val191Ile)
|
rs56105708
|
0.00039
|
NM_005902.4(SMAD3):c.66G>A (p.Glu22=)
|
rs187952791
|
0.00039
|
NM_000138.5(FBN1):c.2895G>A (p.Glu965=)
|
rs140591
|
0.00038
|
NM_001032283.3(TMPO):c.565+1105C>T
|
rs138790561
|
0.00038
|
NM_001032283.3(TMPO):c.565+1750C>G
|
rs142981381
|
0.00038
|
NM_001999.4(FBN2):c.8428T>A (p.Ser2810Thr)
|
rs186577030
|
0.00038
|
NM_003238.6(TGFB2):c.588C>T (p.Gly196=)
|
rs192335285
|
0.00038
|
NM_001032283.3(TMPO):c.565+1848G>A
|
rs34301677
|
0.00037
|
NM_005902.4(SMAD3):c.*798G>A
|
rs138327222
|
0.00037
|
NM_001999.4(FBN2):c.7263G>A (p.Gln2421=)
|
rs114376818
|
0.00036
|
NM_004612.4(TGFBR1):c.1433A>G (p.Asn478Ser)
|
rs141259922
|
0.00036
|
NM_000138.5(FBN1):c.*2395G>A
|
rs184719603
|
0.00035
|
NM_000138.5(FBN1):c.1265G>A (p.Gly422Glu)
|
rs139968089
|
0.00035
|
NM_001999.4(FBN2):c.5031C>T (p.Cys1677=)
|
rs147452231
|
0.00035
|
NM_001999.4(FBN2):c.6511+4C>T
|
rs368610241
|
0.00035
|
NM_003036.4(SKI):c.1033G>A (p.Ala345Thr)
|
rs150934009
|
0.00035
|
NM_004612.4(TGFBR1):c.*1772A>C
|
rs201191009
|
0.00035
|
NM_004612.4(TGFBR1):c.*4366A>G
|
rs199892683
|
0.00035
|
NM_004612.4(TGFBR1):c.*4728G>A
|
rs187415138
|
0.00035
|
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala)
|
rs201273753
|
0.00034
|
NM_000138.5(FBN1):c.5964C>T (p.Thr1988=)
|
rs113022801
|
0.00034
|
NM_001999.4(FBN2):c.3087C>T (p.Val1029=)
|
rs777392642
|
0.00034
|
NM_001999.4(FBN2):c.4472-11A>T
|
rs528062851
|
0.00034
|
NM_001999.4(FBN2):c.6666G>A (p.Pro2222=)
|
rs192923239
|
0.00034
|
NM_003242.6(TGFBR2):c.-193G>A
|
rs886058301
|
0.00034
|
NM_003242.6(TGFBR2):c.944C>T (p.Thr315Met)
|
rs34833812
|
0.00034
|
NM_004612.4(TGFBR1):c.*1240G>A
|
rs200689459
|
0.00034
|
NM_004612.4(TGFBR1):c.*311G>A
|
rs200804500
|
0.00034
|
NM_001999.4(FBN2):c.4983C>T (p.Cys1661=)
|
rs143907156
|
0.00033
|
NM_001999.4(FBN2):c.7205G>A (p.Arg2402His)
|
rs148014419
|
0.00033
|
NM_000138.5(FBN1):c.5788+10C>A
|
rs371560107
|
0.00032
|
NM_001999.4(FBN2):c.339G>A (p.Pro113=)
|
rs144540627
|
0.00032
|
NM_001999.4(FBN2):c.7012+6C>T
|
rs749376421
|
0.00032
|
NM_003036.4(SKI):c.516C>T (p.Pro172=)
|
rs182513685
|
0.00032
|
NM_003036.4(SKI):c.948G>A (p.Lys316=)
|
rs368128582
|
0.00032
|
NM_003238.6(TGFB2):c.747A>G (p.Arg249=)
|
rs147960792
|
0.00032
|
NM_000138.5(FBN1):c.8363C>T (p.Thr2788Met)
|
rs143007898
|
0.00031
|
NM_001032283.3(TMPO):c.565+1493A>G
|
rs141347778
|
0.00031
|
NM_001999.4(FBN2):c.1256A>G (p.Asp419Gly)
|
rs140464202
|
0.00031
|
NM_004612.4(TGFBR1):c.*3779C>T
|
rs201887512
|
0.00031
|
NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile)
|
rs183306990
|
0.00030
|
NM_001999.4(FBN2):c.*274C>T
|
rs140550329
|
0.00030
|
NM_001999.4(FBN2):c.3740T>C (p.Met1247Thr)
|
rs149054177
|
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.3058A>G (p.Thr1020Ala)
|
rs111801777
|
0.00029
|
NM_000138.5(FBN1):c.4750G>A (p.Glu1584Lys)
|
rs148888513
|
0.00029
|
NM_001032283.3(TMPO):c.358C>A (p.Leu120Ile)
|
rs200420073
|
0.00029
|
NM_001999.4(FBN2):c.1057A>G (p.Thr353Ala)
|
rs149992874
|
0.00029
|
NM_001999.4(FBN2):c.4454A>G (p.Asp1485Gly)
|
rs199665922
|
0.00029
|
NM_001999.4(FBN2):c.6946A>T (p.Ile2316Phe)
|
rs201220519
|
0.00029
|
NM_003036.4(SKI):c.312A>T (p.Val104=)
|
rs368195821
|
0.00029
|
NM_003238.6(TGFB2):c.*2496A>G
|
rs745522168
|
0.00029
|
NM_003238.6(TGFB2):c.-96C>A
|
rs1004111898
|
0.00029
|
NM_003239.5(TGFB3):c.354C>T (p.Asn118=)
|
rs145051522
|
0.00029
|
NM_003242.6(TGFBR2):c.263+17A>C
|
rs34771516
|
0.00029
|
NM_000138.5(FBN1):c.7072G>A (p.Val2358Ile)
|
rs140537304
|
0.00028
|
NM_001999.4(FBN2):c.217C>A (p.Arg73Ser)
|
rs148493036
|
0.00028
|
NM_003036.4(SKI):c.1767+9G>C
|
rs181520853
|
0.00028
|
NM_005902.4(SMAD3):c.*2046T>C
|
rs761162475
|
0.00028
|
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.2187A>C (p.Leu729=)
|
rs61730055
|
0.00026
|
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_001999.4(FBN2):c.1850-9C>T
|
rs199937209
|
0.00026
|
NM_001999.4(FBN2):c.2249-19A>G
|
rs193091226
|
0.00026
|
NM_001999.4(FBN2):c.2651G>C (p.Ser884Thr)
|
rs139035999
|
0.00026
|
NM_001999.4(FBN2):c.5353+16G>A
|
rs187448568
|
0.00026
|
NM_001999.4(FBN2):c.8364+18dup
|
rs752497923
|
0.00026
|
NM_003036.4(SKI):c.1302G>A (p.Pro434=)
|
rs111459205
|
0.00026
|
NM_003036.4(SKI):c.1384C>G (p.Pro462Ala)
|
rs199797772
|
0.00026
|
NM_003242.6(TGFBR2):c.915C>T (p.Leu305=)
|
rs146030104
|
0.00026
|
NM_004612.4(TGFBR1):c.528G>A (p.Thr176=)
|
rs190878719
|
0.00026
|
NM_005902.4(SMAD3):c.*1165A>G
|
rs567052377
|
0.00026
|
NM_000138.5(FBN1):c.7338C>T (p.Asn2446=)
|
rs140178192
|
0.00025
|
NM_001032283.3(TMPO):c.565+1748T>A
|
rs138388686
|
0.00025
|
NM_005902.4(SMAD3):c.207-10G>A
|
rs201912204
|
0.00025
|
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.8445C>T (p.Leu2815=)
|
rs142304692
|
0.00024
|
NM_001999.4(FBN2):c.297T>C (p.Pro99=)
|
rs79375977
|
0.00024
|
NM_003036.4(SKI):c.1321C>T (p.Arg441Trp)
|
rs201613746
|
0.00024
|
NM_003238.6(TGFB2):c.*45A>G
|
rs769232186
|
0.00024
|
NM_005902.4(SMAD3):c.*1217A>G
|
rs150600147
|
0.00024
|
NM_000138.5(FBN1):c.6314-15G>A
|
rs200841830
|
0.00023
|
NM_001999.4(FBN2):c.5430T>C (p.Asp1810=)
|
rs750681115
|
0.00023
|
NM_003036.4(SKI):c.1474+15C>T
|
rs369979606
|
0.00023
|
NM_003036.4(SKI):c.2183C>T (p.Pro728Leu)
|
rs372950890
|
0.00023
|
NM_003239.5(TGFB3):c.193G>A (p.Val65Ile)
|
rs201059075
|
0.00023
|
NM_003239.5(TGFB3):c.647-12C>G
|
rs61762490
|
0.00023
|
NM_004612.4(TGFBR1):c.*2095T>G
|
rs201780012
|
0.00023
|
NM_000138.5(FBN1):c.*1432A>T
|
rs750902806
|
0.00022
|
NM_001032283.3(TMPO):c.252G>T (p.Ala84=)
|
rs727504659
|
0.00022
|
NM_001999.4(FBN2):c.5670T>C (p.Cys1890=)
|
rs74811638
|
0.00022
|
NM_001999.4(FBN2):c.5917+9T>G
|
rs371439173
|
0.00022
|
NM_001999.4(FBN2):c.6840G>T (p.Pro2280=)
|
rs377742525
|
0.00022
|
NM_001999.4(FBN2):c.7013-7T>A
|
rs191729449
|
0.00022
|
NM_004612.4(TGFBR1):c.*2799C>T
|
rs200274678
|
0.00022
|
NM_004612.4(TGFBR1):c.1032T>C (p.Asn344=)
|
rs192662552
|
0.00022
|
NM_004612.4(TGFBR1):c.415A>G (p.Ile139Val)
|
rs148176750
|
0.00022
|
NM_005902.4(SMAD3):c.-244G>A
|
rs886051374
|
0.00022
|
NM_000138.5(FBN1):c.1027G>A (p.Gly343Arg)
|
rs146726731
|
0.00021
|
NM_001999.4(FBN2):c.3394G>A (p.Val1132Ile)
|
rs138834515
|
0.00021
|
NM_001999.4(FBN2):c.5004C>T (p.Asn1668=)
|
rs140012679
|
0.00021
|
NM_001999.4(FBN2):c.8282C>T (p.Ala2761Val)
|
rs201962592
|
0.00021
|
NM_003242.6(TGFBR2):c.*86A>G
|
rs540602629
|
0.00021
|
NM_001999.4(FBN2):c.8049G>A (p.Gly2683=)
|
rs138044126
|
0.00020
|
NM_001999.4(FBN2):c.8595C>T (p.Pro2865=)
|
rs137914321
|
0.00020
|
NM_004612.4(TGFBR1):c.-13T>C
|
rs886063220
|
0.00020
|
NM_004612.4(TGFBR1):c.49C>T (p.Leu17=)
|
rs878854714
|
0.00020
|
NM_005902.4(SMAD3):c.*2786T>A
|
rs775905689
|
0.00020
|
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.79G>A (p.Ala27Thr)
|
rs25397
|
0.00019
|
NM_001999.4(FBN2):c.27C>G (p.Leu9=)
|
rs369714882
|
0.00019
|
NM_001999.4(FBN2):c.3322A>C (p.Met1108Leu)
|
rs148127874
|
0.00019
|
NM_003036.4(SKI):c.2174A>C (p.Glu725Ala)
|
rs747798210
|
0.00019
|
NM_005902.4(SMAD3):c.*665T>A
|
rs186841203
|
0.00019
|
NM_000138.5(FBN1):c.228C>T (p.Gly76=)
|
rs141651917
|
0.00018
|
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.76G>C (p.Asp26His)
|
rs146267697
|
0.00018
|
NM_000138.5(FBN1):c.902G>T (p.Gly301Val)
|
rs142888621
|
0.00018
|
NM_001999.4(FBN2):c.6253C>G (p.Pro2085Ala)
|
rs34845843
|
0.00018
|
NM_003238.6(TGFB2):c.*2108G>A
|
rs184256338
|
0.00018
|
NM_003239.5(TGFB3):c.412T>G (p.Ser138Ala)
|
rs201453600
|
0.00018
|
NM_003242.6(TGFBR2):c.984C>T (p.His328=)
|
rs193922666
|
0.00018
|
NM_004612.4(TGFBR1):c.*3314A>G
|
rs200374520
|
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_001032283.3(TMPO):c.565+1186T>A
|
rs146364154
|
0.00017
|
NM_001999.4(FBN2):c.1466-4G>A
|
rs371636769
|
0.00017
|
NM_001999.4(FBN2):c.7700C>T (p.Thr2567Ile)
|
rs150672907
|
0.00017
|
NM_004612.4(TGFBR1):c.*1659T>C
|
rs200082162
|
0.00017
|
NM_004612.4(TGFBR1):c.*3798G>A
|
rs141277814
|
0.00017
|
NM_005902.4(SMAD3):c.-265T>G
|
rs886051373
|
0.00017
|
NM_000138.5(FBN1):c.*1228T>C
|
rs372333234
|
0.00016
|
NM_000138.5(FBN1):c.3454G>A (p.Ala1152Thr)
|
rs140890215
|
0.00016
|
NM_000138.5(FBN1):c.59A>G (p.Tyr20Cys)
|
rs201309310
|
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_000393.5(COL5A2):c.2117C>T (p.Pro706Leu)
|
rs146175905
|
0.00016
|
NM_001032283.3(TMPO):c.534T>C (p.Asn178=)
|
rs200016687
|
0.00016
|
NM_001032283.3(TMPO):c.565+1298G>A
|
rs370939324
|
0.00016
|
NM_001999.4(FBN2):c.*671G>A
|
rs886059886
|
0.00016
|
NM_001999.4(FBN2):c.3235G>T (p.Ala1079Ser)
|
rs774996980
|
0.00016
|
NM_001999.4(FBN2):c.3862G>A (p.Glu1288Lys)
|
rs371512923
|
0.00016
|
NM_002474.3(MYH11):c.3291C>T (p.Ala1097=)
|
rs147605116
|
0.00016
|
NM_003036.4(SKI):c.1095+18G>A
|
rs748998967
|
0.00016
|
NM_003036.4(SKI):c.1440G>A (p.Ser480=)
|
rs185754530
|
0.00016
|
NM_003036.4(SKI):c.42C>T (p.His14=)
|
rs543603037
|
0.00016
|
NM_003036.4(SKI):c.799C>T (p.Leu267=)
|
rs140178396
|
0.00016
|
NM_004612.4(TGFBR1):c.*2179del
|
rs373576679
|
0.00016
|
NM_005902.4(SMAD3):c.636G>A (p.Met212Ile)
|
rs202094530
|
0.00016
|
NM_005902.4(SMAD3):c.984G>A (p.Pro328=)
|
rs150994304
|
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_001032283.3(TMPO):c.565+2376C>T
|
rs202035749
|
0.00015
|
NM_001999.4(FBN2):c.5602A>T (p.Ile1868Phe)
|
rs150931558
|
0.00015
|
NM_001999.4(FBN2):c.7569G>A (p.Leu2523=)
|
rs375141964
|
0.00015
|
NM_003238.6(TGFB2):c.199G>A (p.Val67Met)
|
rs201761868
|
0.00015
|
NM_003242.6(TGFBR2):c.*407A>G
|
rs917786105
|
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.3964+19A>G
|
rs181287036
|
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.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_001032283.3(TMPO):c.565+1469A>G
|
rs147812883
|
0.00014
|
NM_001999.4(FBN2):c.*1009A>G
|
rs375097557
|
0.00014
|
NM_001999.4(FBN2):c.2536G>A (p.Glu846Lys)
|
rs375666281
|
0.00014
|
NM_001999.4(FBN2):c.2801G>A (p.Arg934Gln)
|
rs376194507
|
0.00014
|
NM_001999.4(FBN2):c.3341C>T (p.Thr1114Met)
|
rs202219940
|
0.00014
|
NM_001999.4(FBN2):c.4642G>A (p.Val1548Ile)
|
rs140313460
|
0.00014
|
NM_001999.4(FBN2):c.6064G>A (p.Ala2022Thr)
|
rs545524318
|
0.00014
|
NM_001999.4(FBN2):c.68C>G (p.Ala23Gly)
|
rs199560824
|
0.00014
|
NM_001999.4(FBN2):c.7841-17C>T
|
rs371643668
|
0.00014
|
NM_003238.6(TGFB2):c.347-14C>G
|
rs371982231
|
0.00014
|
NM_003239.5(TGFB3):c.-547dup
|
rs886050802
|
0.00014
|
NM_004612.4(TGFBR1):c.*2290T>C
|
rs1001943455
|
0.00014
|
NM_000138.5(FBN1):c.4748-12T>A
|
rs368723745
|
0.00013
|
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_001032283.3(TMPO):c.565+2182T>C
|
rs571417296
|
0.00013
|
NM_001999.4(FBN2):c.2252A>C (p.Glu751Ala)
|
rs147610681
|
0.00013
|
NM_001999.4(FBN2):c.4902C>T (p.Pro1634=)
|
rs201071253
|
0.00013
|
NM_001999.4(FBN2):c.76A>G (p.Thr26Ala)
|
rs374922166
|
0.00013
|
NM_003036.4(SKI):c.1254C>T (p.Asn418=)
|
rs536126761
|
0.00013
|
NM_003036.4(SKI):c.640A>G (p.Ser214Gly)
|
rs139179843
|
0.00013
|
NM_003238.6(TGFB2):c.*1338T>A
|
rs574858097
|
0.00013
|
NM_003239.5(TGFB3):c.1169A>T (p.Tyr390Phe)
|
rs996297395
|
0.00013
|
NM_003239.5(TGFB3):c.88T>C (p.Leu30=)
|
rs3917145
|
0.00013
|
NM_003242.6(TGFBR2):c.94+16238C>T
|
rs149757320
|
0.00013
|
NM_004612.4(TGFBR1):c.*372T>C
|
rs200786932
|
0.00013
|
NM_005902.4(SMAD3):c.*2285G>A
|
rs62014609
|
0.00013
|
NM_005902.4(SMAD3):c.*2403C>T
|
rs755985886
|
0.00013
|
NM_000138.5(FBN1):c.185G>A (p.Arg62His)
|
rs145942328
|
0.00012
|
NM_000138.5(FBN1):c.3798T>C (p.Tyr1266=)
|
rs112987543
|
0.00012
|
NM_000138.5(FBN1):c.6576C>T (p.Cys2192=)
|
rs369058466
|
0.00012
|
NM_001032283.3(TMPO):c.280-9T>C
|
rs756782828
|
0.00012
|
NM_001999.4(FBN2):c.2469C>T (p.Asn823=)
|
rs770997817
|
0.00012
|
NM_001999.4(FBN2):c.2625T>C (p.Cys875=)
|
rs371502563
|
0.00012
|
NM_001999.4(FBN2):c.2990-14C>T
|
rs377500777
|
0.00012
|
NM_001999.4(FBN2):c.6077C>T (p.Ser2026Phe)
|
rs139668142
|
0.00012
|
NM_001999.4(FBN2):c.6334A>G (p.Lys2112Glu)
|
rs141707850
|
0.00012
|
NM_001999.4(FBN2):c.6964A>G (p.Ile2322Val)
|
rs756500246
|
0.00012
|
NM_001999.4(FBN2):c.7594+12G>A
|
rs184678810
|
0.00012
|
NM_001999.4(FBN2):c.8192+8G>A
|
rs184132548
|
0.00012
|
NM_003036.4(SKI):c.1315G>A (p.Val439Ile)
|
rs575093513
|
0.00012
|
NM_003238.6(TGFB2):c.648G>A (p.Arg216=)
|
rs767503001
|
0.00012
|
NM_004612.4(TGFBR1):c.*1759C>A
|
rs183812806
|
0.00012
|
NM_004612.4(TGFBR1):c.*3382T>G
|
rs200080374
|
0.00012
|
NM_004612.4(TGFBR1):c.*913C>T
|
rs201990134
|
0.00012
|
NM_053025.4(MYLK):c.2474C>T (p.Pro825Leu)
|
rs201332554
|
0.00012
|
NM_000138.5(FBN1):c.*2037T>C
|
rs544842106
|
0.00011
|
NM_000138.5(FBN1):c.*2556G>A
|
rs886051221
|
0.00011
|
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.1838-6C>T
|
rs374629233
|
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.4214T>G (p.Leu1405Arg)
|
rs767606368
|
0.00011
|
NM_000138.5(FBN1):c.7560G>A (p.Thr2520=)
|
rs760425899
|
0.00011
|
NM_001032283.3(TMPO):c.565+1641A>G
|
rs143232629
|
0.00011
|
NM_001999.4(FBN2):c.1651A>G (p.Asn551Asp)
|
rs138389072
|
0.00011
|
NM_001999.4(FBN2):c.1850-14A>G
|
rs201359451
|
0.00011
|
NM_001999.4(FBN2):c.2108G>A (p.Arg703His)
|
rs567790419
|
0.00011
|
NM_001999.4(FBN2):c.2989+20G>A
|
rs374450061
|
0.00011
|
NM_001999.4(FBN2):c.4311C>T (p.Ser1437=)
|
rs138665246
|
0.00011
|
NM_001999.4(FBN2):c.6285A>G (p.Arg2095=)
|
rs28763933
|
0.00011
|
NM_001999.4(FBN2):c.7180A>G (p.Ile2394Val)
|
rs141854054
|
0.00011
|
NM_001999.4(FBN2):c.7942C>A (p.Gln2648Lys)
|
rs375316758
|
0.00011
|
NM_003036.4(SKI):c.105G>A (p.Pro35=)
|
rs778180778
|
0.00011
|
NM_003036.4(SKI):c.1309G>A (p.Ala437Thr)
|
rs544709718
|
0.00011
|
NM_003036.4(SKI):c.1329C>T (p.Pro443=)
|
rs150033567
|
0.00011
|
NM_003036.4(SKI):c.1632C>T (p.His544=)
|
rs373914574
|
0.00011
|
NM_003036.4(SKI):c.970-5C>T
|
rs755318392
|
0.00011
|
NM_003238.6(TGFB2):c.297C>T (p.Tyr99=)
|
rs760759052
|
0.00011
|
NM_003239.5(TGFB3):c.757G>A (p.Val253Met)
|
rs532517095
|
0.00011
|
NM_004612.4(TGFBR1):c.*2410C>T
|
rs200722893
|
0.00011
|
NM_004612.4(TGFBR1):c.120C>T (p.Leu40=)
|
rs201267786
|
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.3082+9T>A
|
rs746303949
|
0.00010
|
NM_001999.4(FBN2):c.157G>A (p.Gly53Ser)
|
rs146807421
|
0.00010
|
NM_001999.4(FBN2):c.158G>A (p.Gly53Asp)
|
rs375093230
|
0.00010
|
NM_001999.4(FBN2):c.2249-15C>A
|
rs759195113
|
0.00010
|
NM_001999.4(FBN2):c.2717G>A (p.Arg906His)
|
rs370973542
|
0.00010
|
NM_001999.4(FBN2):c.2856G>T (p.Thr952=)
|
rs556038110
|
0.00010
|
NM_001999.4(FBN2):c.3217+13G>A
|
rs572013507
|
0.00010
|
NM_001999.4(FBN2):c.3472+17C>A
|
rs747730357
|
0.00010
|
NM_001999.4(FBN2):c.5983G>A (p.Gly1995Ser)
|
rs145588052
|
0.00010
|
NM_001999.4(FBN2):c.6681A>G (p.Thr2227=)
|
rs145681607
|
0.00010
|
NM_001999.4(FBN2):c.6833C>T (p.Thr2278Met)
|
rs2307109
|
0.00010
|
NM_001999.4(FBN2):c.8193-6A>G
|
rs371741283
|
0.00010
|
NM_001999.4(FBN2):c.8674G>T (p.Asp2892Tyr)
|
rs557212203
|
0.00010
|
NM_001999.4(FBN2):c.8691G>A (p.Gly2897=)
|
rs184109554
|
0.00010
|
NM_003036.4(SKI):c.2141G>A (p.Arg714His)
|
rs754486257
|
0.00010
|
NM_003238.6(TGFB2):c.*589C>A
|
rs886045981
|
0.00010
|
NM_003239.5(TGFB3):c.873G>A (p.Pro291=)
|
rs370006165
|
0.00010
|
NM_003242.5(TGFBR2):c.-371A>C
|
rs886058297
|
0.00010
|
NM_003242.6(TGFBR2):c.367A>T (p.Met123Leu)
|
rs768385200
|
0.00010
|
NM_004612.4(TGFBR1):c.*4293A>G
|
rs201453868
|
0.00010
|
NM_005902.4(SMAD3):c.207-13C>T
|
rs200548744
|
0.00010
|
NM_005902.4(SMAD3):c.457C>T (p.Leu153=)
|
rs145380987
|
0.00010
|
NM_000138.5(FBN1):c.*1981C>T
|
rs1054860347
|
0.00009
|
NM_000138.5(FBN1):c.*2044C>T
|
rs561911965
|
0.00009
|
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.3337+11G>A
|
rs368726848
|
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.5296+12C>T
|
rs566030960
|
0.00009
|
NM_000138.5(FBN1):c.7266A>G (p.Arg2422=)
|
rs532737688
|
0.00009
|
NM_000138.5(FBN1):c.7660C>T (p.Arg2554Trp)
|
rs369294972
|
0.00009
|
NM_000138.5(FBN1):c.7846A>G (p.Ile2616Val)
|
rs143677764
|
0.00009
|
NM_000138.5(FBN1):c.8141C>T (p.Ala2714Val)
|
rs772795413
|
0.00009
|
NM_000138.5(FBN1):c.942A>G (p.Lys314=)
|
rs376965275
|
0.00009
|
NM_001032283.3(TMPO):c.164C>T (p.Ala55Val)
|
rs756232510
|
0.00009
|
NM_001032283.3(TMPO):c.565+1531C>T
|
rs199943517
|
0.00009
|
NM_001999.4(FBN2):c.*642A>G
|
rs950545343
|
0.00009
|
NM_001999.4(FBN2):c.3013T>C (p.Leu1005=)
|
rs147633551
|
0.00009
|
NM_001999.4(FBN2):c.3296G>A (p.Arg1099His)
|
rs202050092
|
0.00009
|
NM_001999.4(FBN2):c.3655A>G (p.Met1219Val)
|
rs201288931
|
0.00009
|
NM_001999.4(FBN2):c.3742A>G (p.Ile1248Val)
|
rs144933639
|
0.00009
|
NM_001999.4(FBN2):c.4763A>T (p.Asp1588Val)
|
rs202218356
|
0.00009
|
NM_001999.4(FBN2):c.5275A>C (p.Lys1759Gln)
|
rs201113098
|
0.00009
|
NM_001999.4(FBN2):c.5549-18G>A
|
rs371995872
|
0.00009
|
NM_001999.4(FBN2):c.7497G>A (p.Pro2499=)
|
rs756747736
|
0.00009
|
NM_001999.4(FBN2):c.8239C>G (p.Leu2747Val)
|
rs145353444
|
0.00009
|
NM_001999.4(FBN2):c.8289C>T (p.Tyr2763=)
|
rs190292877
|
0.00009
|
NM_001999.4(FBN2):c.8376C>G (p.Ile2792Met)
|
rs142747169
|
0.00009
|
NM_003036.4(SKI):c.1164G>A (p.Ala388=)
|
rs780171614
|
0.00009
|
NM_003036.4(SKI):c.1269G>A (p.Pro423=)
|
rs375600617
|
0.00009
|
NM_003036.4(SKI):c.1568C>T (p.Ser523Leu)
|
rs730880212
|
0.00009
|
NM_003036.4(SKI):c.897C>T (p.Arg299=)
|
rs773901705
|
0.00009
|
NM_003238.6(TGFB2):c.*1428T>C
|
rs770610828
|
0.00009
|
NM_003238.6(TGFB2):c.*2352T>G
|
rs537275941
|
0.00009
|
NM_003239.5(TGFB3):c.558C>T (p.Ile186=)
|
rs138389291
|
0.00009
|
NM_003239.5(TGFB3):c.813G>C (p.Lys271Asn)
|
rs147601018
|
0.00009
|
NM_004612.4(TGFBR1):c.*3704A>G
|
rs563433922
|
0.00009
|
NM_004612.4(TGFBR1):c.*3830T>C
|
rs186157987
|
0.00009
|
NM_005902.4(SMAD3):c.*51G>C
|
rs368655036
|
0.00009
|
NM_005902.4(SMAD3):c.885G>A (p.Arg295=)
|
rs139616052
|
0.00009
|
NM_000138.5(FBN1):c.2079G>A (p.Gly693=)
|
rs374174497
|
0.00008
|
NM_000138.5(FBN1):c.2294-14C>G
|
rs201446948
|
0.00008
|
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.3429C>A (p.Gly1143=)
|
rs151232024
|
0.00008
|
NM_000138.5(FBN1):c.5297-19A>G
|
rs375665466
|
0.00008
|
NM_000138.5(FBN1):c.6038-15_6038-14del
|
rs752198920
|
0.00008
|
NM_000138.5(FBN1):c.7379A>G (p.Lys2460Arg)
|
rs144189837
|
0.00008
|
NM_001032283.3(TMPO):c.565+1617A>G
|
rs771185259
|
0.00008
|
NM_001032283.3(TMPO):c.565+2387G>A
|
rs201034441
|
0.00008
|
NM_001999.4(FBN2):c.*1118T>C
|
rs776542113
|
0.00008
|
NM_001999.4(FBN2):c.*234T>C
|
rs375135682
|
0.00008
|
NM_001999.4(FBN2):c.3518C>G (p.Thr1173Ser)
|
rs199678757
|
0.00008
|
NM_001999.4(FBN2):c.5637C>T (p.Ala1879=)
|
rs367620361
|
0.00008
|
NM_001999.4(FBN2):c.6597A>G (p.Pro2199=)
|
rs150305429
|
0.00008
|
NM_001999.4(FBN2):c.7212C>T (p.Leu2404=)
|
rs368506842
|
0.00008
|
NM_001999.4(FBN2):c.8124C>T (p.Tyr2708=)
|
rs201634501
|
0.00008
|
NM_003036.4(SKI):c.1109T>C (p.Val370Ala)
|
rs138088528
|
0.00008
|
NM_003036.4(SKI):c.170C>T (p.Ala57Val)
|
rs1389185868
|
0.00008
|
NM_003036.4(SKI):c.242C>A (p.Pro81Gln)
|
rs542659326
|
0.00008
|
NM_003238.6(TGFB2):c.556G>A (p.Asp186Asn)
|
rs766536496
|
0.00008
|
NM_003239.5(TGFB3):c.101A>G (p.His34Arg)
|
rs199791687
|
0.00008
|
NM_003239.5(TGFB3):c.97G>A (p.Gly33Ser)
|
rs781353815
|
0.00008
|
NM_000093.5(COL5A1):c.4748C>T (p.Thr1583Met)
|
rs375076580
|
0.00007
|
NM_000138.5(FBN1):c.*254C>T
|
rs886051243
|
0.00007
|
NM_000138.5(FBN1):c.1327+12A>G
|
rs764788168
|
0.00007
|
NM_000138.5(FBN1):c.1363T>C (p.Leu455=)
|
rs557954342
|
0.00007
|
NM_000138.5(FBN1):c.2678-3C>T
|
rs747274959
|
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.4582+3A>G
|
rs777845323
|
0.00007
|
NM_000138.5(FBN1):c.5963C>T (p.Thr1988Ile)
|
rs142912485
|
0.00007
|
NM_000138.5(FBN1):c.6372A>G (p.Ser2124=)
|
rs397515832
|
0.00007
|
NM_000138.5(FBN1):c.6942C>T (p.Tyr2314=)
|
rs372967546
|
0.00007
|
NM_001032283.3(TMPO):c.565+1472G>A
|
rs375628010
|
0.00007
|
NM_001032283.3(TMPO):c.565+2102C>G
|
rs764177808
|
0.00007
|
NM_001999.4(FBN2):c.2096-19G>A
|
rs369377429
|
0.00007
|
NM_001999.4(FBN2):c.2198C>G (p.Pro733Arg)
|
rs745528502
|
0.00007
|
NM_001999.4(FBN2):c.2480G>A (p.Arg827Gln)
|
rs150735582
|
0.00007
|
NM_001999.4(FBN2):c.3839C>T (p.Ser1280Leu)
|
rs200481467
|
0.00007
|
NM_001999.4(FBN2):c.3964A>G (p.Thr1322Ala)
|
rs367614052
|
0.00007
|
NM_001999.4(FBN2):c.4035G>A (p.Lys1345=)
|
rs772465221
|
0.00007
|
NM_001999.4(FBN2):c.4298G>A (p.Arg1433His)
|
rs143462011
|
0.00007
|
NM_001999.4(FBN2):c.5447C>T (p.Pro1816Leu)
|
rs149537608
|
0.00007
|
NM_001999.4(FBN2):c.5495G>A (p.Arg1832His)
|
rs140276399
|
0.00007
|
NM_001999.4(FBN2):c.6063C>T (p.Val2021=)
|
rs149380208
|
0.00007
|
NM_001999.4(FBN2):c.6512-7A>G
|
rs201462445
|
0.00007
|
NM_001999.4(FBN2):c.8085C>T (p.Asp2695=)
|
rs765452930
|
0.00007
|
NM_001999.4(FBN2):c.8351C>T (p.Pro2784Leu)
|
rs144574441
|
0.00007
|
NM_001999.4(FBN2):c.8530G>A (p.Val2844Ile)
|
rs147134796
|
0.00007
|
NM_003238.6(TGFB2):c.*1271A>G
|
rs572446864
|
0.00007
|
NM_003238.6(TGFB2):c.217A>G (p.Ser73Gly)
|
rs753391734
|
0.00007
|
NM_004612.4(TGFBR1):c.1285T>C (p.Tyr429His)
|
rs201745016
|
0.00007
|
NM_000138.5(FBN1):c.*2592T>C
|
rs752936528
|
0.00006
|
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.1961-14T>C
|
rs373918202
|
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.2835C>T (p.Ala945=)
|
rs140389544
|
0.00006
|
NM_000138.5(FBN1):c.2901C>T (p.Cys967=)
|
rs755610084
|
0.00006
|
NM_000138.5(FBN1):c.2921G>A (p.Arg974His)
|
rs763094223
|
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.4211-10C>T
|
rs28730793
|
0.00006
|
NM_000138.5(FBN1):c.4337-14T>C
|
rs78068079
|
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.5097C>T (p.Tyr1699=)
|
rs368979510
|
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.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.988+20G>A
|
rs375760654
|
0.00006
|
NM_000393.5(COL5A2):c.3794A>G (p.Asp1265Gly)
|
rs200325397
|
0.00006
|
NM_001032283.3(TMPO):c.249C>T (p.Ala83=)
|
rs747943302
|
0.00006
|
NM_001032283.3(TMPO):c.565+1213G>A
|
rs368211058
|
0.00006
|
NM_001032283.3(TMPO):c.565+1317C>T
|
rs376074187
|
0.00006
|
NM_001032283.3(TMPO):c.565+1328G>T
|
rs369208265
|
0.00006
|
NM_001032283.3(TMPO):c.565+1709T>C
|
rs374855899
|
0.00006
|
NM_001032283.3(TMPO):c.565+2196A>G
|
rs369840957
|
0.00006
|
NM_001032283.3(TMPO):c.565+2361G>T
|
rs746160070
|
0.00006
|
NM_001999.4(FBN2):c.-122G>T
|
rs557716482
|
0.00006
|
NM_001999.4(FBN2):c.1181G>A (p.Arg394His)
|
rs150790914
|
0.00006
|
NM_001999.4(FBN2):c.1411G>A (p.Val471Ile)
|
rs138046782
|
0.00006
|
NM_001999.4(FBN2):c.1644T>G (p.Asp548Glu)
|
rs182651973
|
0.00006
|
NM_001999.4(FBN2):c.1666T>C (p.Tyr556His)
|
rs1256710897
|
0.00006
|
NM_001999.4(FBN2):c.1682A>G (p.His561Arg)
|
rs28763951
|
0.00006
|
NM_001999.4(FBN2):c.2508G>A (p.Thr836=)
|
rs372872626
|
0.00006
|
NM_001999.4(FBN2):c.2978G>A (p.Arg993His)
|
rs774483323
|
0.00006
|
NM_001999.4(FBN2):c.3045C>T (p.Pro1015=)
|
rs371640952
|
0.00006
|
NM_001999.4(FBN2):c.3405G>A (p.Pro1135=)
|
rs185809581
|
0.00006
|
NM_001999.4(FBN2):c.3883G>A (p.Asp1295Asn)
|
rs759131544
|
0.00006
|
NM_001999.4(FBN2):c.3908C>T (p.Pro1303Leu)
|
rs144505094
|
0.00006
|
NM_001999.4(FBN2):c.4757G>C (p.Arg1586Pro)
|
rs143195229
|
0.00006
|
NM_001999.4(FBN2):c.4951A>G (p.Ile1651Val)
|
rs765442038
|
0.00006
|
NM_001999.4(FBN2):c.5422+6T>G
|
rs1000499022
|
0.00006
|
NM_001999.4(FBN2):c.5423-8C>A
|
rs1195073601
|
0.00006
|
NM_001999.4(FBN2):c.5800+5G>A
|
rs375487064
|
0.00006
|
NM_001999.4(FBN2):c.5853C>T (p.Thr1951=)
|
rs377133710
|
0.00006
|
NM_001999.4(FBN2):c.5855T>C (p.Val1952Ala)
|
rs372879535
|
0.00006
|
NM_001999.4(FBN2):c.6433A>G (p.Lys2145Glu)
|
rs766271753
|
0.00006
|
NM_001999.4(FBN2):c.6573C>T (p.Asp2191=)
|
rs374456115
|
0.00006
|
NM_001999.4(FBN2):c.6982G>T (p.Ala2328Ser)
|
rs199910288
|
0.00006
|
NM_001999.4(FBN2):c.7583A>G (p.Lys2528Arg)
|
rs749623269
|
0.00006
|
NM_001999.4(FBN2):c.7690C>G (p.Gln2564Glu)
|
rs373970388
|
0.00006
|
NM_001999.4(FBN2):c.7808T>C (p.Phe2603Ser)
|
rs374507398
|
0.00006
|
NM_001999.4(FBN2):c.803A>G (p.Asn268Ser)
|
rs760817242
|
0.00006
|
NM_001999.4(FBN2):c.8058C>A (p.Phe2686Leu)
|
rs150734807
|
0.00006
|
NM_001999.4(FBN2):c.8086G>A (p.Val2696Met)
|
rs373994051
|
0.00006
|
NM_001999.4(FBN2):c.8520C>T (p.Asn2840=)
|
rs139098335
|
0.00006
|
NM_003036.4(SKI):c.1162G>A (p.Ala388Thr)
|
rs376736872
|
0.00006
|
NM_003036.4(SKI):c.1182C>T (p.Ser394=)
|
rs542616415
|
0.00006
|
NM_003036.4(SKI):c.1211+10C>T
|
rs200242660
|
0.00006
|
NM_003036.4(SKI):c.1271C>T (p.Pro424Leu)
|
rs764317955
|
0.00006
|
NM_003036.4(SKI):c.1710C>T (p.Arg570=)
|
rs766067033
|
0.00006
|
NM_003036.4(SKI):c.1923G>A (p.Leu641=)
|
rs199666240
|
0.00006
|
NM_003036.4(SKI):c.2056G>A (p.Ala686Thr)
|
rs756553942
|
0.00006
|
NM_003036.4(SKI):c.247C>T (p.Pro83Ser)
|
rs201590284
|
0.00006
|
NM_003036.4(SKI):c.360C>T (p.Arg120=)
|
rs375024753
|
0.00006
|
NM_003036.4(SKI):c.567G>C (p.Leu189=)
|
rs752411031
|
0.00006
|
NM_003238.6(TGFB2):c.*1034A>C
|
rs932331054
|
0.00006
|
NM_003238.6(TGFB2):c.*1229T>C
|
rs781757001
|
0.00006
|
NM_003238.6(TGFB2):c.*3193A>G
|
rs1161476569
|
0.00006
|
NM_003238.6(TGFB2):c.*972A>C
|
rs565195408
|
0.00006
|
NM_003238.6(TGFB2):c.1140C>T (p.Cys380=)
|
rs201129153
|
0.00006
|
NM_003238.6(TGFB2):c.11G>A (p.Cys4Tyr)
|
rs776628524
|
0.00006
|
NM_003238.6(TGFB2):c.194C>T (p.Pro65Leu)
|
rs750324465
|
0.00006
|
NM_003238.6(TGFB2):c.644-4C>T
|
rs11466408
|
0.00006
|
NM_003239.5(TGFB3):c.235C>G (p.Leu79Val)
|
rs371230847
|
0.00006
|
NM_003239.5(TGFB3):c.504C>T (p.Ile168=)
|
rs148029842
|
0.00006
|
NM_003239.5(TGFB3):c.517-6C>G
|
rs45586636
|
0.00006
|
NM_003239.5(TGFB3):c.96C>T (p.Phe32=)
|
rs748977151
|
0.00006
|
NM_003242.5(TGFBR2):c.-307C>T
|
rs749340193
|
0.00006
|
NM_003242.6(TGFBR2):c.*1637G>A
|
rs1032978663
|
0.00006
|
NM_003242.6(TGFBR2):c.-337T>A
|
rs1038796042
|
0.00006
|
NM_003242.6(TGFBR2):c.985G>A (p.Ala329Thr)
|
rs148665451
|
0.00006
|
NM_004612.4(TGFBR1):c.*2846A>G
|
rs200238696
|
0.00006
|
NM_004612.4(TGFBR1):c.*4356A>G
|
rs201446431
|
0.00006
|
NM_005902.4(SMAD3):c.*250C>A
|
rs754034578
|
0.00006
|
NM_000138.5(FBN1):c.-123C>A
|
rs1004900313
|
0.00005
|
NM_000138.5(FBN1):c.1147+7G>A
|
rs373156788
|
0.00005
|
NM_000138.5(FBN1):c.1272A>G (p.Gln424=)
|
rs763710172
|
0.00005
|
NM_000138.5(FBN1):c.155C>T (p.Ala52Val)
|
rs1258637670
|
0.00005
|
NM_000138.5(FBN1):c.2445T>G (p.Pro815=)
|
rs368004231
|
0.00005
|
NM_000138.5(FBN1):c.247+10T>C
|
rs367618012
|
0.00005
|
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.4162C>T (p.Arg1388Cys)
|
rs770860280
|
0.00005
|
NM_000138.5(FBN1):c.4316C>G (p.Ala1439Gly)
|
rs755085498
|
0.00005
|
NM_000138.5(FBN1):c.4321G>A (p.Gly1441Arg)
|
rs372118067
|
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.6699C>T (p.Pro2233=)
|
rs372386014
|
0.00005
|
NM_000138.5(FBN1):c.6728G>A (p.Arg2243Lys)
|
rs769589759
|
0.00005
|
NM_000138.5(FBN1):c.6852T>C (p.Pro2284=)
|
rs201226058
|
0.00005
|
NM_000138.5(FBN1):c.7051G>A (p.Gly2351Ser)
|
rs746127796
|
0.00005
|
NM_000138.5(FBN1):c.7743C>T (p.Cys2581=)
|
rs765772116
|
0.00005
|
NM_000138.5(FBN1):c.7820-4G>A
|
rs750036723
|
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.83A>G (p.Asn28Ser)
|
rs193922245
|
0.00005
|
NM_001032283.3(TMPO):c.13C>T (p.Leu5=)
|
rs149067616
|
0.00005
|
NM_001032283.3(TMPO):c.565+1107C>T
|
rs750751621
|
0.00005
|
NM_001032283.3(TMPO):c.565+1413A>G
|
rs57670957
|
0.00005
|
NM_001032283.3(TMPO):c.565+1824C>G
|
rs373861992
|
0.00005
|
NM_001999.4(FBN2):c.1078+9C>T
|
rs371692018
|
0.00005
|
NM_001999.4(FBN2):c.1139C>T (p.Pro380Leu)
|
rs139189178
|
0.00005
|
NM_001999.4(FBN2):c.1720A>G (p.Ile574Val)
|
rs768073096
|
0.00005
|
NM_001999.4(FBN2):c.1885A>G (p.Asn629Asp)
|
rs863223554
|
0.00005
|
NM_001999.4(FBN2):c.3149C>T (p.Thr1050Met)
|
rs150506063
|
0.00005
|
NM_001999.4(FBN2):c.3249G>T (p.Met1083Ile)
|
rs146143173
|
0.00005
|
NM_001999.4(FBN2):c.3414T>C (p.Phe1138=)
|
rs769005512
|
0.00005
|
NM_001999.4(FBN2):c.3584G>A (p.Arg1195His)
|
rs751600209
|
0.00005
|
NM_001999.4(FBN2):c.3690A>G (p.Gly1230=)
|
rs774807410
|
0.00005
|
NM_001999.4(FBN2):c.4102G>A (p.Val1368Met)
|
rs762139261
|
0.00005
|
NM_001999.4(FBN2):c.4328A>T (p.Asp1443Val)
|
rs751400994
|
0.00005
|
NM_001999.4(FBN2):c.4773G>T (p.Leu1591=)
|
rs753387547
|
0.00005
|
NM_001999.4(FBN2):c.5494C>T (p.Arg1832Cys)
|
rs778519094
|
0.00005
|
NM_001999.4(FBN2):c.5674+18T>G
|
rs199749609
|
0.00005
|
NM_001999.4(FBN2):c.6138G>T (p.Gly2046=)
|
rs150627604
|
0.00005
|
NM_001999.4(FBN2):c.6297T>C (p.Thr2099=)
|
rs770778839
|
0.00005
|
NM_002474.3(MYH11):c.2496G>C (p.Trp832Cys)
|
rs369196744
|
0.00005
|
NM_003036.4(SKI):c.1096-5G>A
|
rs566936949
|
0.00005
|
NM_003036.4(SKI):c.1212-15C>T
|
rs200904079
|
0.00005
|
NM_003036.4(SKI):c.1212-8C>T
|
rs370921440
|
0.00005
|
NM_003036.4(SKI):c.1242C>T (p.Ala414=)
|
rs757550300
|
0.00005
|
NM_003036.4(SKI):c.1263C>T (p.Leu421=)
|
rs773045410
|
0.00005
|
NM_003036.4(SKI):c.1636C>T (p.Arg546Trp)
|
rs774648274
|
0.00005
|
NM_003036.4(SKI):c.450C>T (p.Cys150=)
|
rs538703800
|
0.00005
|
NM_003036.4(SKI):c.994A>G (p.Ile332Val)
|
rs374264201
|
0.00005
|
NM_003238.6(TGFB2):c.-1249G>A
|
rs1002933360
|
0.00005
|
NM_003238.6(TGFB2):c.1008C>T (p.His336=)
|
rs886038528
|
0.00005
|
NM_003238.6(TGFB2):c.386T>C (p.Ile129Thr)
|
rs752823052
|
0.00005
|
NM_003239.5(TGFB3):c.1081-14A>G
|
rs201379167
|
0.00005
|
NM_003239.5(TGFB3):c.559G>A (p.Gly187Ser)
|
rs201063101
|
0.00005
|
NM_003242.6(TGFBR2):c.340G>C (p.Glu114Gln)
|
rs771551560
|
0.00005
|
NM_004612.4(TGFBR1):c.*1710G>A
|
rs200197062
|
0.00005
|
NM_004612.4(TGFBR1):c.1040G>C (p.Cys347Ser)
|
rs113786548
|
0.00005
|
NM_004612.4(TGFBR1):c.929C>T (p.Ala310Val)
|
rs202010361
|
0.00005
|
NM_005902.4(SMAD3):c.*626C>T
|
rs886051385
|
0.00005
|
NM_005902.4(SMAD3):c.607+9T>A
|
rs886051380
|
0.00005
|
NM_017617.5(NOTCH1):c.6205G>A (p.Ala2069Thr)
|
rs567909904
|
0.00005
|
NM_000090.4(COL3A1):c.3326G>A (p.Arg1109Gln)
|
rs730880062
|
0.00004
|
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.*300T>C
|
rs1011876253
|
0.00004
|
NM_000138.5(FBN1):c.1087G>A (p.Gly363Ser)
|
rs363855
|
0.00004
|
NM_000138.5(FBN1):c.1116C>T (p.Val372=)
|
rs774193938
|
0.00004
|
NM_000138.5(FBN1):c.1242T>G (p.Pro414=)
|
rs371929738
|
0.00004
|
NM_000138.5(FBN1):c.1290A>G (p.Pro430=)
|
rs749526018
|
0.00004
|
NM_000138.5(FBN1):c.1602T>C (p.Cys534=)
|
rs377386372
|
0.00004
|
NM_000138.5(FBN1):c.1837+4C>T
|
rs199950267
|
0.00004
|
NM_000138.5(FBN1):c.1880G>A (p.Arg627His)
|
rs746073643
|
0.00004
|
NM_000138.5(FBN1):c.1884C>T (p.Cys628=)
|
rs150421653
|
0.00004
|
NM_000138.5(FBN1):c.1885G>A (p.Val629Ile)
|
rs140503215
|
0.00004
|
NM_000138.5(FBN1):c.1951G>A (p.Val651Met)
|
rs1335043561
|
0.00004
|
NM_000138.5(FBN1):c.2075T>A (p.Phe692Tyr)
|
rs955639059
|
0.00004
|
NM_000138.5(FBN1):c.2168-19G>T
|
rs777612162
|
0.00004
|
NM_000138.5(FBN1):c.2168-6G>A
|
rs200924505
|
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.2600A>G (p.Asn867Ser)
|
rs145464311
|
0.00004
|
NM_000138.5(FBN1):c.2637C>T (p.Leu879=)
|
rs202163602
|
0.00004
|
NM_000138.5(FBN1):c.2753C>G (p.Pro918Arg)
|
rs557798071
|
0.00004
|
NM_000138.5(FBN1):c.3145G>A (p.Gly1049Ser)
|
rs778181932
|
0.00004
|
NM_000138.5(FBN1):c.3246C>T (p.Gly1082=)
|
rs138855754
|
0.00004
|
NM_000138.5(FBN1):c.3295G>A (p.Glu1099Lys)
|
rs763485521
|
0.00004
|
NM_000138.5(FBN1):c.3415G>C (p.Glu1139Gln)
|
rs780972853
|
0.00004
|
NM_000138.5(FBN1):c.3462C>T (p.Ile1154=)
|
rs144339604
|
0.00004
|
NM_000138.5(FBN1):c.347-15T>C
|
rs749417882
|
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.3896C>T (p.Thr1299Met)
|
rs774851476
|
0.00004
|
NM_000138.5(FBN1):c.405A>G (p.Leu135=)
|
rs187254268
|
0.00004
|
NM_000138.5(FBN1):c.4095C>T (p.Asp1365=)
|
rs375402043
|
0.00004
|
NM_000138.5(FBN1):c.4163G>A (p.Arg1388His)
|
rs749196340
|
0.00004
|
NM_000138.5(FBN1):c.4176G>A (p.Lys1392=)
|
rs141633998
|
0.00004
|
NM_000138.5(FBN1):c.4336+7G>T
|
rs760603409
|
0.00004
|
NM_000138.5(FBN1):c.4337-9C>T
|
rs201001403
|
0.00004
|
NM_000138.5(FBN1):c.4371C>T (p.Val1457=)
|
rs781641370
|
0.00004
|
NM_000138.5(FBN1):c.4804G>A (p.Val1602Ile)
|
rs780957696
|
0.00004
|
NM_000138.5(FBN1):c.492T>C (p.Asn164=)
|
rs778007582
|
0.00004
|
NM_000138.5(FBN1):c.538+4A>G
|
rs375721252
|
0.00004
|
NM_000138.5(FBN1):c.5442C>T (p.Asn1814=)
|
rs397515822
|
0.00004
|
NM_000138.5(FBN1):c.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.6497-11G>A
|
rs183200505
|
0.00004
|
NM_000138.5(FBN1):c.6911A>G (p.Asn2304Ser)
|
rs375939213
|
0.00004
|
NM_000138.5(FBN1):c.7210G>A (p.Asp2404Asn)
|
rs530059069
|
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.7819+15C>T
|
rs772164887
|
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.8542A>C (p.Lys2848Gln)
|
rs199846998
|
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_001032283.3(TMPO):c.128A>G (p.Gln43Arg)
|
rs371427406
|
0.00004
|
NM_001032283.3(TMPO):c.270C>G (p.Ala90=)
|
rs538702194
|
0.00004
|
NM_001032283.3(TMPO):c.280-8G>A
|
rs943754313
|
0.00004
|
NM_001032283.3(TMPO):c.565+1277G>A
|
rs766680788
|
0.00004
|
NM_001032283.3(TMPO):c.565+1304T>A
|
rs142500409
|
0.00004
|
NM_001032283.3(TMPO):c.565+1310G>C
|
rs779961791
|
0.00004
|
NM_001032283.3(TMPO):c.565+1414G>A
|
rs1381728541
|
0.00004
|
NM_001032283.3(TMPO):c.565+1421A>G
|
rs772426890
|
0.00004
|
NM_001032283.3(TMPO):c.565+1574G>A
|
rs756784841
|
0.00004
|
NM_001032283.3(TMPO):c.565+1675A>G
|
rs370366685
|
0.00004
|
NM_001032283.3(TMPO):c.565+1958G>T
|
rs143845319
|
0.00004
|
NM_001032283.3(TMPO):c.565+2188C>T
|
rs763238672
|
0.00004
|
NM_001999.4(FBN2):c.*879C>T
|
rs774452401
|
0.00004
|
NM_001999.4(FBN2):c.1078+12A>C
|
rs769211487
|
0.00004
|
NM_001999.4(FBN2):c.1103C>T (p.Ser368Leu)
|
rs562268545
|
0.00004
|
NM_001999.4(FBN2):c.1140G>A (p.Pro380=)
|
rs532059159
|
0.00004
|
NM_001999.4(FBN2):c.1195G>A (p.Gly399Arg)
|
rs142228933
|
0.00004
|
NM_001999.4(FBN2):c.1313G>A (p.Gly438Glu)
|
rs751545674
|
0.00004
|
NM_001999.4(FBN2):c.1400T>C (p.Phe467Ser)
|
rs779849582
|
0.00004
|
NM_001999.4(FBN2):c.1968T>C (p.Cys656=)
|
rs750685055
|
0.00004
|
NM_001999.4(FBN2):c.202G>T (p.Ala68Ser)
|
rs767317022
|
0.00004
|
NM_001999.4(FBN2):c.2358C>T (p.Asn786=)
|
rs371981691
|
0.00004
|
NM_001999.4(FBN2):c.2363G>A (p.Arg788His)
|
rs368116715
|
0.00004
|
NM_001999.4(FBN2):c.2555-6T>C
|
rs376507178
|
0.00004
|
NM_001999.4(FBN2):c.2722G>A (p.Glu908Lys)
|
rs1204772554
|
0.00004
|
NM_001999.4(FBN2):c.2812+7G>A
|
rs373320057
|
0.00004
|
NM_001999.4(FBN2):c.3342G>A (p.Thr1114=)
|
rs532983875
|
0.00004
|
NM_001999.4(FBN2):c.3393C>T (p.Cys1131=)
|
rs760695805
|
0.00004
|
NM_001999.4(FBN2):c.3511G>A (p.Gly1171Ser)
|
rs775844150
|
0.00004
|
NM_001999.4(FBN2):c.3602T>C (p.Ile1201Thr)
|
rs755127278
|
0.00004
|
NM_001999.4(FBN2):c.3701C>T (p.Thr1234Met)
|
rs368105987
|
0.00004
|
NM_001999.4(FBN2):c.377G>A (p.Arg126His)
|
rs528614556
|
0.00004
|
NM_001999.4(FBN2):c.3793G>A (p.Glu1265Lys)
|
rs776031352
|
0.00004
|
NM_001999.4(FBN2):c.3805A>G (p.Ser1269Gly)
|
rs765649978
|
0.00004
|
NM_001999.4(FBN2):c.3920G>A (p.Arg1307His)
|
rs139428175
|
0.00004
|
NM_001999.4(FBN2):c.4222+10C>A
|
rs376700480
|
0.00004
|
NM_001999.4(FBN2):c.4259G>A (p.Ser1420Asn)
|
rs751406554
|
0.00004
|
NM_001999.4(FBN2):c.4286C>T (p.Pro1429Leu)
|
rs771467729
|
0.00004
|
NM_001999.4(FBN2):c.4297C>T (p.Arg1433Cys)
|
rs374493286
|
0.00004
|
NM_001999.4(FBN2):c.4418G>A (p.Arg1473His)
|
rs140812463
|
0.00004
|
NM_001999.4(FBN2):c.4724G>A (p.Arg1575His)
|
rs776040052
|
0.00004
|
NM_001999.4(FBN2):c.5200+11A>C
|
rs863223545
|
0.00004
|
NM_001999.4(FBN2):c.5681A>G (p.Asn1894Ser)
|
rs750837082
|
0.00004
|
NM_001999.4(FBN2):c.5847A>G (p.Lys1949=)
|
rs751378266
|
0.00004
|
NM_001999.4(FBN2):c.6004A>G (p.Asn2002Asp)
|
rs773305589
|
0.00004
|
NM_001999.4(FBN2):c.6073G>A (p.Gly2025Ser)
|
rs772994944
|
0.00004
|
NM_001999.4(FBN2):c.6153C>T (p.Ser2051=)
|
rs888075207
|
0.00004
|
NM_001999.4(FBN2):c.6293-8T>A
|
rs375682913
|
0.00004
|
NM_001999.4(FBN2):c.645G>A (p.Pro215=)
|
rs764473594
|
0.00004
|
NM_001999.4(FBN2):c.6539G>A (p.Gly2180Asp)
|
rs537628586
|
0.00004
|
NM_001999.4(FBN2):c.6556C>G (p.Gln2186Glu)
|
rs1415043313
|
0.00004
|
NM_001999.4(FBN2):c.6628C>T (p.Arg2210Cys)
|
rs200158069
|
0.00004
|
NM_001999.4(FBN2):c.704C>T (p.Thr235Met)
|
rs367767903
|
0.00004
|
NM_001999.4(FBN2):c.7339G>A (p.Gly2447Arg)
|
rs764998447
|
0.00004
|
NM_001999.4(FBN2):c.7719C>T (p.Asn2573=)
|
rs746265117
|
0.00004
|
NM_001999.4(FBN2):c.7878C>T (p.His2626=)
|
rs587780943
|
0.00004
|
NM_001999.4(FBN2):c.8168C>T (p.Pro2723Leu)
|
rs746473847
|
0.00004
|
NM_001999.4(FBN2):c.8193-13T>C
|
rs376023293
|
0.00004
|
NM_001999.4(FBN2):c.8193-19C>T
|
rs771472324
|
0.00004
|
NM_001999.4(FBN2):c.8230T>G (p.Tyr2744Asp)
|
rs752138290
|
0.00004
|
NM_001999.4(FBN2):c.8406C>T (p.Pro2802=)
|
rs764836656
|
0.00004
|
NM_001999.4(FBN2):c.8444A>C (p.Lys2815Thr)
|
rs757028268
|
0.00004
|
NM_001999.4(FBN2):c.8678A>T (p.Asp2893Val)
|
rs863223615
|
0.00004
|
NM_001999.4(FBN2):c.968G>A (p.Ser323Asn)
|
rs747748647
|
0.00004
|
NM_003036.4(SKI):c.1041C>T (p.Ser347=)
|
rs140745811
|
0.00004
|
NM_003036.4(SKI):c.1042G>A (p.Glu348Lys)
|
rs370217718
|
0.00004
|
NM_003036.4(SKI):c.1080C>T (p.Ala360=)
|
rs200557598
|
0.00004
|
NM_003036.4(SKI):c.1096-6C>T
|
rs201304370
|
0.00004
|
NM_003036.4(SKI):c.1258G>A (p.Ala420Thr)
|
rs771862077
|
0.00004
|
NM_003036.4(SKI):c.138C>T (p.Ala46=)
|
rs745527890
|
0.00004
|
NM_003036.4(SKI):c.1406C>T (p.Ala469Val)
|
rs746659856
|
0.00004
|
NM_003036.4(SKI):c.1456G>A (p.Val486Ile)
|
rs200717031
|
0.00004
|
NM_003036.4(SKI):c.1547C>T (p.Pro516Leu)
|
rs781193859
|
0.00004
|
NM_003036.4(SKI):c.1619C>T (p.Ala540Val)
|
rs764786977
|
0.00004
|
NM_003036.4(SKI):c.1711G>A (p.Val571Met)
|
rs190373826
|
0.00004
|
NM_003036.4(SKI):c.1767+12G>A
|
rs772577806
|
0.00004
|
NM_003036.4(SKI):c.1906C>T (p.Arg636Cys)
|
rs143354709
|
0.00004
|
NM_003036.4(SKI):c.227T>C (p.Leu76Pro)
|
rs753070477
|
0.00004
|
NM_003036.4(SKI):c.543C>T (p.Asp181=)
|
rs766957830
|
0.00004
|
NM_003036.4(SKI):c.696G>A (p.Leu232=)
|
rs748272908
|
0.00004
|
NM_003036.4(SKI):c.726C>T (p.Ala242=)
|
rs139227600
|
0.00004
|
NM_003036.4(SKI):c.978T>G (p.Ser326=)
|
rs759010691
|
0.00004
|
NM_003238.6(TGFB2):c.*1389C>T
|
rs528922293
|
0.00004
|
NM_003238.6(TGFB2):c.*2007C>T
|
rs1007087694
|
0.00004
|
NM_003238.6(TGFB2):c.*2089A>C
|
rs886045988
|
0.00004
|
NM_003238.6(TGFB2):c.1053G>A (p.Pro351=)
|
rs142741166
|
0.00004
|
NM_003238.6(TGFB2):c.518A>G (p.Lys173Arg)
|
rs749692412
|
0.00004
|
NM_003238.6(TGFB2):c.555C>T (p.Ile185=)
|
rs760740958
|
0.00004
|
NM_003238.6(TGFB2):c.603C>T (p.Phe201=)
|
rs377264861
|
0.00004
|
NM_003238.6(TGFB2):c.697C>T (p.Pro233Ser)
|
rs753572174
|
0.00004
|
NM_003238.6(TGFB2):c.984G>A (p.Arg328=)
|
rs147678881
|
0.00004
|
NM_003239.5(TGFB3):c.-30G>A
|
rs770828281
|
0.00004
|
NM_003239.5(TGFB3):c.188C>A (p.Thr63Asn)
|
rs757664433
|
0.00004
|
NM_003239.5(TGFB3):c.192C>T (p.His64=)
|
rs374423962
|
0.00004
|
NM_003239.5(TGFB3):c.213C>T (p.Ala71=)
|
rs753250192
|
0.00004
|
NM_003239.5(TGFB3):c.288C>T (p.Thr96=)
|
rs201047560
|
0.00004
|
NM_003239.5(TGFB3):c.351C>T (p.His117=)
|
rs375232060
|
0.00004
|
NM_003239.5(TGFB3):c.387C>T (p.Ser129=)
|
rs749768136
|
0.00004
|
NM_003239.5(TGFB3):c.519C>T (p.Ile173=)
|
rs754898843
|
0.00004
|
NM_003239.5(TGFB3):c.626G>A (p.Arg209His)
|
rs779897294
|
0.00004
|
NM_003239.5(TGFB3):c.755-7T>G
|
rs750868828
|
0.00004
|
NM_003239.5(TGFB3):c.850C>T (p.Pro284Ser)
|
rs1018415204
|
0.00004
|
NM_003239.5(TGFB3):c.872C>T (p.Pro291Leu)
|
rs145121701
|
0.00004
|
NM_003239.5(TGFB3):c.926+17A>G
|
rs374932970
|
0.00004
|
NM_003242.6(TGFBR2):c.*1572A>G
|
rs878857301
|
0.00004
|
NM_003242.6(TGFBR2):c.*2340T>C
|
rs886058328
|
0.00004
|
NM_003242.6(TGFBR2):c.*352A>G
|
rs565524213
|
0.00004
|
NM_003242.6(TGFBR2):c.*988C>T
|
rs138036906
|
0.00004
|
NM_003242.6(TGFBR2):c.1015C>T (p.Arg339Trp)
|
rs761991787
|
0.00004
|
NM_003242.6(TGFBR2):c.116C>A (p.Thr39Asn)
|
rs146277116
|
0.00004
|
NM_003242.6(TGFBR2):c.1316T>C (p.Val439Ala)
|
rs1050833
|
0.00004
|
NM_003242.6(TGFBR2):c.620G>A (p.Arg207Gln)
|
rs371209879
|
0.00004
|
NM_003242.6(TGFBR2):c.696C>T (p.Ala232=)
|
rs768508812
|
0.00004
|
NM_003242.6(TGFBR2):c.69G>T (p.Thr23=)
|
rs878854612
|
0.00004
|
NM_003242.6(TGFBR2):c.938G>A (p.Arg313Gln)
|
rs200361387
|
0.00004
|
NM_003242.6(TGFBR2):c.95-3C>A
|
rs375330013
|
0.00004
|
NM_004612.4(TGFBR1):c.1065A>C (p.Ala355=)
|
rs758280185
|
0.00004
|
NM_004612.4(TGFBR1):c.1091C>G (p.Thr364Ser)
|
rs201050937
|
0.00004
|
NM_005902.4(SMAD3):c.*1316G>A
|
rs996604810
|
0.00004
|
NM_005902.4(SMAD3):c.*789A>G
|
rs191679355
|
0.00004
|
NM_005902.4(SMAD3):c.*805G>A
|
rs770764038
|
0.00004
|
NM_005902.4(SMAD3):c.1125C>T (p.Ser375=)
|
rs144245324
|
0.00004
|
NM_053025.4(MYLK):c.3982G>A (p.Val1328Met)
|
rs730880164
|
0.00004
|
NM_000138.5(FBN1):c.*1375A>C
|
rs1049315076
|
0.00003
|
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.*845C>T
|
rs1022238055
|
0.00003
|
NM_000138.5(FBN1):c.-98G>T
|
rs886051254
|
0.00003
|
NM_000138.5(FBN1):c.1158C>T (p.Asn386=)
|
rs368737502
|
0.00003
|
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.164+5A>G
|
rs397515760
|
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.2142G>A (p.Gly714=)
|
rs1423523072
|
0.00003
|
NM_000138.5(FBN1):c.2658G>A (p.Pro886=)
|
rs193922192
|
0.00003
|
NM_000138.5(FBN1):c.2728+20A>C
|
rs765993846
|
0.00003
|
NM_000138.5(FBN1):c.2729-8C>G
|
rs775257418
|
0.00003
|
NM_000138.5(FBN1):c.2735A>G (p.Asp912Gly)
|
rs754919275
|
0.00003
|
NM_000138.5(FBN1):c.2745A>G (p.Glu915=)
|
rs1285398012
|
0.00003
|
NM_000138.5(FBN1):c.2930T>G (p.Met977Arg)
|
rs199682686
|
0.00003
|
NM_000138.5(FBN1):c.3216C>T (p.Asp1072=)
|
rs757177349
|
0.00003
|
NM_000138.5(FBN1):c.3223C>T (p.Arg1075Cys)
|
rs186805359
|
0.00003
|
NM_000138.5(FBN1):c.3389A>G (p.His1130Arg)
|
rs747189975
|
0.00003
|
NM_000138.5(FBN1):c.3455C>T (p.Ala1152Val)
|
rs539103389
|
0.00003
|
NM_000138.5(FBN1):c.3480G>A (p.Glu1160=)
|
rs149625173
|
0.00003
|
NM_000138.5(FBN1):c.3523A>G (p.Ile1175Val)
|
rs756754760
|
0.00003
|
NM_000138.5(FBN1):c.3610A>G (p.Met1204Val)
|
rs775707895
|
0.00003
|
NM_000138.5(FBN1):c.378A>G (p.Gly126=)
|
rs149611106
|
0.00003
|
NM_000138.5(FBN1):c.3906A>G (p.Ser1302=)
|
rs756186103
|
0.00003
|
NM_000138.5(FBN1):c.4210+10C>T
|
rs200548889
|
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.4413G>A (p.Glu1471=)
|
rs756143911
|
0.00003
|
NM_000138.5(FBN1):c.442+15G>T
|
rs369470506
|
0.00003
|
NM_000138.5(FBN1):c.442+19T>C
|
rs757466131
|
0.00003
|
NM_000138.5(FBN1):c.442+1G>A
|
rs868403743
|
0.00003
|
NM_000138.5(FBN1):c.4460-9C>T
|
rs372753740
|
0.00003
|
NM_000138.5(FBN1):c.4583-11A>G
|
rs780024463
|
0.00003
|
NM_000138.5(FBN1):c.4650C>T (p.Ser1550=)
|
rs933962712
|
0.00003
|
NM_000138.5(FBN1):c.4719T>C (p.Pro1573=)
|
rs761947423
|
0.00003
|
NM_000138.5(FBN1):c.4803C>T (p.Thr1601=)
|
rs747757998
|
0.00003
|
NM_000138.5(FBN1):c.5066-7C>G
|
rs377369765
|
0.00003
|
NM_000138.5(FBN1):c.5311C>T (p.Arg1771Trp)
|
rs767884599
|
0.00003
|
NM_000138.5(FBN1):c.5466C>T (p.Ala1822=)
|
rs947248042
|
0.00003
|
NM_000138.5(FBN1):c.5495G>A (p.Arg1832His)
|
rs764203302
|
0.00003
|
NM_000138.5(FBN1):c.5519G>A (p.Arg1840His)
|
rs369482365
|
0.00003
|
NM_000138.5(FBN1):c.5671+7A>G
|
rs751170564
|
0.00003
|
NM_000138.5(FBN1):c.5841C>T (p.Cys1947=)
|
rs151181806
|
0.00003
|
NM_000138.5(FBN1):c.6044A>T (p.Asp2015Val)
|
rs746719632
|
0.00003
|
NM_000138.5(FBN1):c.6189G>A (p.Ala2063=)
|
rs375624881
|
0.00003
|
NM_000138.5(FBN1):c.6314-16A>G
|
rs759468929
|
0.00003
|
NM_000138.5(FBN1):c.6314-17G>A
|
rs370991477
|
0.00003
|
NM_000138.5(FBN1):c.6338A>T (p.Tyr2113Phe)
|
rs363816
|
0.00003
|
NM_000138.5(FBN1):c.6623A>G (p.Asn2208Ser)
|
rs146063839
|
0.00003
|
NM_000138.5(FBN1):c.6819G>A (p.Met2273Ile)
|
rs778027769
|
0.00003
|
NM_000138.5(FBN1):c.6890C>T (p.Thr2297Met)
|
rs773785908
|
0.00003
|
NM_000138.5(FBN1):c.6903C>T (p.Ile2301=)
|
rs146930301
|
0.00003
|
NM_000138.5(FBN1):c.7241G>A (p.Arg2414Gln)
|
rs143863014
|
0.00003
|
NM_000138.5(FBN1):c.7395T>C (p.Ser2465=)
|
rs774341590
|
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.7677T>C (p.Asp2559=)
|
rs182358927
|
0.00003
|
NM_000138.5(FBN1):c.7680G>T (p.Gln2560His)
|
rs780206348
|
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.7872C>T (p.Asn2624=)
|
rs539185798
|
0.00003
|
NM_000138.5(FBN1):c.8069T>G (p.Met2690Arg)
|
rs747476726
|
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_000393.5(COL5A2):c.463C>T (p.Arg155Cys)
|
rs767252151
|
0.00003
|
NM_001032283.3(TMPO):c.213C>G (p.Arg71=)
|
rs910746839
|
0.00003
|
NM_001032283.3(TMPO):c.330A>G (p.Leu110=)
|
rs776054749
|
0.00003
|
NM_001032283.3(TMPO):c.331G>C (p.Asp111His)
|
rs201838047
|
0.00003
|
NM_001032283.3(TMPO):c.529A>G (p.Ser177Gly)
|
rs765922156
|
0.00003
|
NM_001032283.3(TMPO):c.565+1287A>G
|
rs534940271
|
0.00003
|
NM_001032283.3(TMPO):c.565+1301A>G
|
rs375249647
|
0.00003
|
NM_001032283.3(TMPO):c.565+1616T>C
|
rs147635314
|
0.00003
|
NM_001032283.3(TMPO):c.565+1917A>G
|
rs727505217
|
0.00003
|
NM_001032283.3(TMPO):c.565+1982A>C
|
rs766190912
|
0.00003
|
NM_001032283.3(TMPO):c.565+2104A>G
|
rs766567371
|
0.00003
|
NM_001032283.3(TMPO):c.565+2247C>T
|
rs369379490
|
0.00003
|
NM_001032283.3(TMPO):c.565+2253C>T
|
rs201929673
|
0.00003
|
NM_001032283.3(TMPO):c.565+2268A>T
|
rs759832690
|
0.00003
|
NM_001032283.3(TMPO):c.565+2301A>G
|
rs765153747
|
0.00003
|
NM_001032283.3(TMPO):c.565+2467T>A
|
rs767216575
|
0.00003
|
NM_001032283.3(TMPO):c.565+2504G>A
|
rs145677259
|
0.00003
|
NM_001851.6(COL9A1):c.1816C>T (p.Pro606Ser)
|
rs773380068
|
0.00003
|
NM_001999.4(FBN2):c.-448C>T
|
rs529025715
|
0.00003
|
NM_001999.4(FBN2):c.1091G>A (p.Gly364Asp)
|
rs762615993
|
0.00003
|
NM_001999.4(FBN2):c.1410C>A (p.Gly470=)
|
rs750103822
|
0.00003
|
NM_001999.4(FBN2):c.1423G>A (p.Gly475Ser)
|
rs200440156
|
0.00003
|
NM_001999.4(FBN2):c.1424G>T (p.Gly475Val)
|
rs56312356
|
0.00003
|
NM_001999.4(FBN2):c.1526G>T (p.Arg509Leu)
|
rs199587570
|
0.00003
|
NM_001999.4(FBN2):c.186G>A (p.Glu62=)
|
rs759839753
|
0.00003
|
NM_001999.4(FBN2):c.195G>A (p.Glu65=)
|
rs750055830
|
0.00003
|
NM_001999.4(FBN2):c.2214A>T (p.Gly738=)
|
rs201548788
|
0.00003
|
NM_001999.4(FBN2):c.2249-12T>C
|
rs776314725
|
0.00003
|
NM_001999.4(FBN2):c.2258A>G (p.His753Arg)
|
rs777266350
|
0.00003
|
NM_001999.4(FBN2):c.244G>A (p.Val82Met)
|
rs550387143
|
0.00003
|
NM_001999.4(FBN2):c.2634G>A (p.Ser878=)
|
rs143905167
|
0.00003
|
NM_001999.4(FBN2):c.2674+10A>G
|
rs371734006
|
0.00003
|
NM_001999.4(FBN2):c.2943G>T (p.Glu981Asp)
|
rs142249689
|
0.00003
|
NM_001999.4(FBN2):c.3061C>T (p.Arg1021Cys)
|
rs541842635
|
0.00003
|
NM_001999.4(FBN2):c.3093G>A (p.Ala1031=)
|
rs528529593
|
0.00003
|
NM_001999.4(FBN2):c.3279C>T (p.Ile1093=)
|
rs142809999
|
0.00003
|
NM_001999.4(FBN2):c.3670C>T (p.Gln1224Ter)
|
rs863223569
|
0.00003
|
NM_001999.4(FBN2):c.3702G>A (p.Thr1234=)
|
rs374833053
|
0.00003
|
NM_001999.4(FBN2):c.3709C>T (p.Arg1237Cys)
|
rs746570981
|
0.00003
|
NM_001999.4(FBN2):c.3710G>T (p.Arg1237Leu)
|
rs142185964
|
0.00003
|
NM_001999.4(FBN2):c.3820C>T (p.Leu1274=)
|
rs192602314
|
0.00003
|
NM_001999.4(FBN2):c.3840G>A (p.Ser1280=)
|
rs372613935
|
0.00003
|
NM_001999.4(FBN2):c.3980A>G (p.Asn1327Ser)
|
rs762567430
|
0.00003
|
NM_001999.4(FBN2):c.4103T>C (p.Val1368Ala)
|
rs28763942
|
0.00003
|
NM_001999.4(FBN2):c.4290C>T (p.Gly1430=)
|
rs773650336
|
0.00003
|
NM_001999.4(FBN2):c.4495A>C (p.Asn1499His)
|
rs771260299
|
0.00003
|
NM_001999.4(FBN2):c.4551C>T (p.Cys1517=)
|
rs144018137
|
0.00003
|
NM_001999.4(FBN2):c.4785C>T (p.Thr1595=)
|
rs756084999
|
0.00003
|
NM_001999.4(FBN2):c.4914C>T (p.Gly1638=)
|
rs1482008222
|
0.00003
|
NM_001999.4(FBN2):c.49G>A (p.Gly17Ser)
|
rs1085307788
|
0.00003
|
NM_001999.4(FBN2):c.5191A>G (p.Asn1731Asp)
|
rs1476723489
|
0.00003
|
NM_001999.4(FBN2):c.532C>T (p.Pro178Ser)
|
rs765177174
|
0.00003
|
NM_001999.4(FBN2):c.5353+11G>A
|
rs572393472
|
0.00003
|
NM_001999.4(FBN2):c.5548+20T>C
|
rs372334617
|
0.00003
|
NM_001999.4(FBN2):c.5567A>G (p.Asn1856Ser)
|
rs780989245
|
0.00003
|
NM_001999.4(FBN2):c.5638G>A (p.Ala1880Thr)
|
rs546148828
|
0.00003
|
NM_001999.4(FBN2):c.5814C>T (p.Cys1938=)
|
rs753556200
|
0.00003
|
NM_001999.4(FBN2):c.5966G>A (p.Arg1989His)
|
rs189964478
|
0.00003
|
NM_001999.4(FBN2):c.6007G>A (p.Glu2003Lys)
|
rs995323393
|
0.00003
|
NM_001999.4(FBN2):c.6057G>A (p.Glu2019=)
|
rs752114619
|
0.00003
|
NM_001999.4(FBN2):c.629-19T>C
|
rs374428361
|
0.00003
|
NM_001999.4(FBN2):c.6411G>A (p.Gly2137=)
|
rs552637321
|
0.00003
|
NM_001999.4(FBN2):c.6439G>A (p.Asp2147Asn)
|
rs370650204
|
0.00003
|
NM_001999.4(FBN2):c.6505C>T (p.Arg2169Cys)
|
rs1450302477
|
0.00003
|
NM_001999.4(FBN2):c.6909C>T (p.His2303=)
|
rs762440824
|
0.00003
|
NM_001999.4(FBN2):c.6986G>A (p.Arg2329Gln)
|
rs370804151
|
0.00003
|
NM_001999.4(FBN2):c.7338T>C (p.Asp2446=)
|
rs751824761
|
0.00003
|
NM_001999.4(FBN2):c.733C>T (p.Arg245Trp)
|
rs146941428
|
0.00003
|
NM_001999.4(FBN2):c.7477G>A (p.Asp2493Asn)
|
rs779483120
|
0.00003
|
NM_001999.4(FBN2):c.7525A>G (p.Thr2509Ala)
|
rs752627315
|
0.00003
|
NM_001999.4(FBN2):c.7587A>G (p.Thr2529=)
|
rs145809024
|
0.00003
|
NM_001999.4(FBN2):c.7756G>A (p.Gly2586Arg)
|
rs747305733
|
0.00003
|
NM_001999.4(FBN2):c.8046G>T (p.Ser2682=)
|
rs771507975
|
0.00003
|
NM_001999.4(FBN2):c.8112C>T (p.Asn2704=)
|
rs370851605
|
0.00003
|
NM_001999.4(FBN2):c.8192+7C>T
|
rs376135657
|
0.00003
|
NM_001999.4(FBN2):c.81C>T (p.Ala27=)
|
rs746484599
|
0.00003
|
NM_001999.4(FBN2):c.8253C>T (p.Val2751=)
|
rs140631421
|
0.00003
|
NM_001999.4(FBN2):c.8305G>A (p.Gly2769Ser)
|
rs372206279
|
0.00003
|
NM_001999.4(FBN2):c.8332A>C (p.Lys2778Gln)
|
rs371715068
|
0.00003
|
NM_001999.4(FBN2):c.8469C>T (p.Pro2823=)
|
rs371397121
|
0.00003
|
NM_001999.4(FBN2):c.8596G>A (p.Gly2866Ser)
|
rs752201545
|
0.00003
|
NM_001999.4(FBN2):c.8644G>C (p.Glu2882Gln)
|
rs765693576
|
0.00003
|
NM_001999.4(FBN2):c.8701G>A (p.Glu2901Lys)
|
rs781069799
|
0.00003
|
NM_001999.4(FBN2):c.93G>T (p.Gln31His)
|
rs371491169
|
0.00003
|
NM_003036.4(SKI):c.1000C>T (p.Pro334Ser)
|
rs775433131
|
0.00003
|
NM_003036.4(SKI):c.1187A>G (p.His396Arg)
|
rs987527805
|
0.00003
|
NM_003036.4(SKI):c.1272G>A (p.Pro424=)
|
rs552946737
|
0.00003
|
NM_003036.4(SKI):c.142A>C (p.Lys48Gln)
|
rs946543006
|
0.00003
|
NM_003036.4(SKI):c.1556G>A (p.Arg519His)
|
rs376322470
|
0.00003
|
NM_003036.4(SKI):c.1573G>A (p.Val525Ile)
|
rs141961299
|
0.00003
|
NM_003036.4(SKI):c.1637G>A (p.Arg546Gln)
|
rs748681103
|
0.00003
|
NM_003036.4(SKI):c.1767+11C>T
|
rs202132957
|
0.00003
|
NM_003036.4(SKI):c.1817C>T (p.Thr606Met)
|
rs753862105
|
0.00003
|
NM_003036.4(SKI):c.1866G>A (p.Glu622=)
|
rs748886393
|
0.00003
|
NM_003036.4(SKI):c.1877A>T (p.Lys626Met)
|
rs774106502
|
0.00003
|
NM_003036.4(SKI):c.1935G>T (p.Arg645=)
|
rs751933078
|
0.00003
|
NM_003036.4(SKI):c.1999-19C>T
|
rs1367620764
|
0.00003
|
NM_003036.4(SKI):c.2112G>A (p.Glu704=)
|
rs1034542455
|
0.00003
|
NM_003036.4(SKI):c.2154G>T (p.Ala718=)
|
rs778456446
|
0.00003
|
NM_003036.4(SKI):c.336C>T (p.Cys112=)
|
rs752031916
|
0.00003
|
NM_003036.4(SKI):c.393G>A (p.Leu131=)
|
rs748004059
|
0.00003
|
NM_003036.4(SKI):c.593C>T (p.Pro198Leu)
|
rs1371410513
|
0.00003
|
NM_003036.4(SKI):c.844C>A (p.Arg282=)
|
rs753783431
|
0.00003
|
NM_003036.4(SKI):c.878G>A (p.Gly293Asp)
|
rs756571135
|
0.00003
|
NM_003036.4(SKI):c.915C>G (p.Asp305Glu)
|
rs900879745
|
0.00003
|
NM_003036.4(SKI):c.964C>T (p.Pro322Ser)
|
rs779317743
|
0.00003
|
NM_003036.4(SKI):c.970-7A>G
|
rs199634070
|
0.00003
|
NM_003238.6(TGFB2):c.-569T>C
|
rs886045972
|
0.00003
|
NM_003238.6(TGFB2):c.-679G>A
|
rs886045964
|
0.00003
|
NM_003238.6(TGFB2):c.-682C>G
|
rs886045963
|
0.00003
|
NM_003238.6(TGFB2):c.-794T>C
|
rs886045960
|
0.00003
|
NM_003238.6(TGFB2):c.330C>T (p.Pro110=)
|
rs150348450
|
0.00003
|
NM_003238.6(TGFB2):c.400G>A (p.Val134Ile)
|
rs757551766
|
0.00003
|
NM_003238.6(TGFB2):c.428A>G (p.Asn143Ser)
|
rs141548795
|
0.00003
|
NM_003238.6(TGFB2):c.745A>C (p.Arg249=)
|
rs201845761
|
0.00003
|
NM_003239.5(TGFB3):c.1135G>A (p.Val379Met)
|
rs757031677
|
0.00003
|
NM_003239.5(TGFB3):c.1185C>T (p.Thr395=)
|
rs753453972
|
0.00003
|
NM_003239.5(TGFB3):c.591C>T (p.Ala197=)
|
rs375090568
|
0.00003
|
NM_003239.5(TGFB3):c.797G>A (p.Arg266His)
|
rs142069844
|
0.00003
|
NM_003239.5(TGFB3):c.859C>T (p.Arg287Trp)
|
rs757774610
|
0.00003
|
NM_003239.5(TGFB3):c.948T>C (p.Cys316=)
|
rs1364994786
|
0.00003
|
NM_003242.6(TGFBR2):c.*1075C>T
|
rs544093849
|
0.00003
|
NM_003242.6(TGFBR2):c.*2425C>A
|
rs886058329
|
0.00003
|
NM_003242.6(TGFBR2):c.*328A>C
|
rs886058309
|
0.00003
|
NM_003242.6(TGFBR2):c.*989G>A
|
rs886058316
|
0.00003
|
NM_003242.6(TGFBR2):c.1470C>T (p.Asn490=)
|
rs141113059
|
0.00003
|
NM_003242.6(TGFBR2):c.569G>A (p.Arg190His)
|
rs780542125
|
0.00003
|
NM_003242.6(TGFBR2):c.690G>A (p.Thr230=)
|
rs201560560
|
0.00003
|
NM_004612.4(TGFBR1):c.*1959G>T
|
rs886063237
|
0.00003
|
NM_004612.4(TGFBR1):c.*3059A>G
|
rs200138586
|
0.00003
|
NM_004612.4(TGFBR1):c.*3150C>T
|
rs200525939
|
0.00003
|
NM_004612.4(TGFBR1):c.*4793A>G
|
rs77001090
|
0.00003
|
NM_004612.4(TGFBR1):c.134A>G (p.Asn45Ser)
|
rs387906696
|
0.00003
|
NM_004612.4(TGFBR1):c.926C>T (p.Thr309Met)
|
rs200518416
|
0.00003
|
NM_005902.4(SMAD3):c.*2573G>A
|
rs886051418
|
0.00003
|
NM_005902.4(SMAD3):c.*552G>C
|
rs769408016
|
0.00003
|
NM_005902.4(SMAD3):c.1070A>G (p.Asn357Ser)
|
rs140880290
|
0.00003
|
NM_005902.4(SMAD3):c.1102C>A (p.Arg368=)
|
rs757106110
|
0.00003
|
NM_005902.4(SMAD3):c.1258C>T (p.Arg420Cys)
|
rs1206533102
|
0.00003
|
NM_005902.4(SMAD3):c.394A>G (p.Thr132Ala)
|
rs371876622
|
0.00003
|
NM_000138.5(FBN1):c.*1249A>G
|
rs1456413075
|
0.00002
|
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.*253A>T
|
rs539383558
|
0.00002
|
NM_000138.5(FBN1):c.1147+20T>C
|
rs746088095
|
0.00002
|
NM_000138.5(FBN1):c.1370G>A (p.Arg457His)
|
rs141217134
|
0.00002
|
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.1566A>G (p.Thr522=)
|
rs531264662
|
0.00002
|
NM_000138.5(FBN1):c.164+9A>G
|
rs773997652
|
0.00002
|
NM_000138.5(FBN1):c.1692A>T (p.Thr564=)
|
rs1323581379
|
0.00002
|
NM_000138.5(FBN1):c.1961-7T>C
|
rs878853675
|
0.00002
|
NM_000138.5(FBN1):c.19C>T (p.Leu7=)
|
rs139161583
|
0.00002
|
NM_000138.5(FBN1):c.2093C>T (p.Pro698Leu)
|
rs764827921
|
0.00002
|
NM_000138.5(FBN1):c.2154G>A (p.Thr718=)
|
rs377033515
|
0.00002
|
NM_000138.5(FBN1):c.2344A>G (p.Arg782Gly)
|
rs752891726
|
0.00002
|
NM_000138.5(FBN1):c.2419+7C>T
|
rs773155136
|
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.2678-14G>A
|
rs369475895
|
0.00002
|
NM_000138.5(FBN1):c.2854+5A>G
|
rs762989672
|
0.00002
|
NM_000138.5(FBN1):c.2855-10C>T
|
rs1044021136
|
0.00002
|
NM_000138.5(FBN1):c.2878C>T (p.Leu960=)
|
rs1469750878
|
0.00002
|
NM_000138.5(FBN1):c.2883G>T (p.Arg961Ser)
|
rs142964120
|
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.2980G>A (p.Glu994Lys)
|
rs780301913
|
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.3359A>T (p.Asp1120Val)
|
rs1183556572
|
0.00002
|
NM_000138.5(FBN1):c.3374G>A (p.Arg1125Gln)
|
rs768831064
|
0.00002
|
NM_000138.5(FBN1):c.3403A>G (p.Ser1135Gly)
|
rs749255004
|
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.3453C>T (p.Ser1151=)
|
rs748759748
|
0.00002
|
NM_000138.5(FBN1):c.3456G>A (p.Ala1152=)
|
rs777442762
|
0.00002
|
NM_000138.5(FBN1):c.346+6T>G
|
rs371159129
|
0.00002
|
NM_000138.5(FBN1):c.347-16C>G
|
rs752093190
|
0.00002
|
NM_000138.5(FBN1):c.3513C>T (p.Cys1171=)
|
rs775417975
|
0.00002
|
NM_000138.5(FBN1):c.3777A>C (p.Gly1259=)
|
rs1404903351
|
0.00002
|
NM_000138.5(FBN1):c.3785G>A (p.Arg1262Lys)
|
rs371103773
|
0.00002
|
NM_000138.5(FBN1):c.3937G>A (p.Gly1313Ser)
|
rs1156984408
|
0.00002
|
NM_000138.5(FBN1):c.4026A>G (p.Thr1342=)
|
rs752154066
|
0.00002
|
NM_000138.5(FBN1):c.4088-5A>G
|
rs534913868
|
0.00002
|
NM_000138.5(FBN1):c.4336+4A>C
|
rs764099050
|
0.00002
|
NM_000138.5(FBN1):c.4337-3A>C
|
rs770551687
|
0.00002
|
NM_000138.5(FBN1):c.4358C>T (p.Pro1453Leu)
|
rs368650399
|
0.00002
|
NM_000138.5(FBN1):c.4406G>A (p.Arg1469His)
|
rs397515808
|
0.00002
|
NM_000138.5(FBN1):c.4488G>A (p.Thr1496=)
|
rs370494288
|
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.468T>C (p.Asn156=)
|
rs757577615
|
0.00002
|
NM_000138.5(FBN1):c.4698G>A (p.Leu1566=)
|
rs143544916
|
0.00002
|
NM_000138.5(FBN1):c.4748-6C>T
|
rs376611471
|
0.00002
|
NM_000138.5(FBN1):c.4842A>G (p.Pro1614=)
|
rs779362502
|
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.5180G>A (p.Arg1727Gln)
|
rs780993677
|
0.00002
|
NM_000138.5(FBN1):c.5190C>T (p.Asn1730=)
|
rs765997414
|
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.5463C>T (p.Asn1821=)
|
rs753966383
|
0.00002
|
NM_000138.5(FBN1):c.5467G>A (p.Glu1823Lys)
|
rs567397762
|
0.00002
|
NM_000138.5(FBN1):c.5518C>T (p.Arg1840Cys)
|
rs765387131
|
0.00002
|
NM_000138.5(FBN1):c.5788+19G>A
|
rs758996081
|
0.00002
|
NM_000138.5(FBN1):c.5899G>T (p.Asp1967Tyr)
|
rs776999627
|
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.601G>A (p.Gly201Arg)
|
rs748358548
|
0.00002
|
NM_000138.5(FBN1):c.6095C>G (p.Thr2032Ser)
|
rs756506237
|
0.00002
|
NM_000138.5(FBN1):c.6129G>C (p.Gly2043=)
|
rs766473100
|
0.00002
|
NM_000138.5(FBN1):c.6180C>T (p.Tyr2060=)
|
rs974604498
|
0.00002
|
NM_000138.5(FBN1):c.619A>T (p.Thr207Ser)
|
rs1464303112
|
0.00002
|
NM_000138.5(FBN1):c.62C>T (p.Thr21Met)
|
rs1489806847
|
0.00002
|
NM_000138.5(FBN1):c.6379+11T>C
|
rs370322263
|
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.6616+5A>G
|
rs1381778697
|
0.00002
|
NM_000138.5(FBN1):c.6732G>A (p.Met2244Ile)
|
rs780960909
|
0.00002
|
NM_000138.5(FBN1):c.6844C>T (p.Arg2282Trp)
|
rs765205164
|
0.00002
|
NM_000138.5(FBN1):c.6872-12A>G
|
rs568325297
|
0.00002
|
NM_000138.5(FBN1):c.6998-7C>T
|
rs764823572
|
0.00002
|
NM_000138.5(FBN1):c.7231G>A (p.Asp2411Asn)
|
rs775558051
|
0.00002
|
NM_000138.5(FBN1):c.7283T>C (p.Ile2428Thr)
|
rs565474071
|
0.00002
|
NM_000138.5(FBN1):c.7400A>G (p.Gln2467Arg)
|
rs770839761
|
0.00002
|
NM_000138.5(FBN1):c.7454-6T>C
|
rs1253572031
|
0.00002
|
NM_000138.5(FBN1):c.7501G>C (p.Val2501Leu)
|
rs371110611
|
0.00002
|
NM_000138.5(FBN1):c.7524A>G (p.Thr2508=)
|
rs201992942
|
0.00002
|
NM_000138.5(FBN1):c.7533T>C (p.Cys2511=)
|
rs750331217
|
0.00002
|
NM_000138.5(FBN1):c.7575C>T (p.Asn2525=)
|
rs759021474
|
0.00002
|
NM_000138.5(FBN1):c.7683C>T (p.Thr2561=)
|
rs758353830
|
0.00002
|
NM_000138.5(FBN1):c.7701C>T (p.Asp2567=)
|
rs368054842
|
0.00002
|
NM_000138.5(FBN1):c.7727G>A (p.Arg2576His)
|
rs369888822
|
0.00002
|
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)
|
rs727503054
|
0.00002
|
NM_000138.5(FBN1):c.8130C>T (p.Leu2710=)
|
rs372105662
|
0.00002
|
NM_000138.5(FBN1):c.8227-10G>A
|
rs765093559
|
0.00002
|
NM_000138.5(FBN1):c.8327G>A (p.Arg2776Gln)
|
rs748327743
|
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_001032283.3(TMPO):c.153G>A (p.Pro51=)
|
rs755323971
|
0.00002
|
NM_001032283.3(TMPO):c.248C>T (p.Ala83Val)
|
rs730880228
|
0.00002
|
NM_001032283.3(TMPO):c.318T>A (p.Asp106Glu)
|
rs772509210
|
0.00002
|
NM_001032283.3(TMPO):c.370C>T (p.Leu124Phe)
|
rs375619307
|
0.00002
|
NM_001032283.3(TMPO):c.497C>A (p.Ser166Tyr)
|
rs147012167
|
0.00002
|
NM_001032283.3(TMPO):c.51G>A (p.Lys17=)
|
rs766680931
|
0.00002
|
NM_001032283.3(TMPO):c.565+1078A>G
|
rs774074641
|
0.00002
|
NM_001032283.3(TMPO):c.565+1232C>T
|
rs369897433
|
0.00002
|
NM_001032283.3(TMPO):c.565+1246T>C
|
rs144465114
|
0.00002
|
NM_001032283.3(TMPO):c.565+1449A>G
|
rs754951098
|
0.00002
|
NM_001032283.3(TMPO):c.565+1597T>C
|
rs1227785613
|
0.00002
|
NM_001032283.3(TMPO):c.565+1829dup
|
rs1877366767
|
0.00002
|
NM_001032283.3(TMPO):c.565+2095A>C
|
rs557983360
|
0.00002
|
NM_001032283.3(TMPO):c.565+2137A>G
|
rs886049913
|
0.00002
|
NM_001032283.3(TMPO):c.565+2150A>G
|
rs200856956
|
0.00002
|
NM_001032283.3(TMPO):c.565+2248G>A
|
rs150445385
|
0.00002
|
NM_001032283.3(TMPO):c.70A>C (p.Asn24His)
|
rs727505279
|
0.00002
|
NM_001032283.3(TMPO):c.85G>A (p.Ala29Thr)
|
rs1174108011
|
0.00002
|
NM_001999.4(FBN2):c.1058C>T (p.Thr353Ile)
|
rs1204127908
|
0.00002
|
NM_001999.4(FBN2):c.1079-10A>G
|
rs766920012
|
0.00002
|
NM_001999.4(FBN2):c.1093A>G (p.Met365Val)
|
rs1401325502
|
0.00002
|
NM_001999.4(FBN2):c.1194C>T (p.Ile398=)
|
rs766004910
|
0.00002
|
NM_001999.4(FBN2):c.1238A>G (p.Tyr413Cys)
|
rs576123258
|
0.00002
|
NM_001999.4(FBN2):c.1253T>C (p.Met418Thr)
|
rs769840338
|
0.00002
|
NM_001999.4(FBN2):c.125C>T (p.Pro42Leu)
|
rs773011327
|
0.00002
|
NM_001999.4(FBN2):c.1333A>G (p.Ser445Gly)
|
rs143515269
|
0.00002
|
NM_001999.4(FBN2):c.1365G>T (p.Gly455=)
|
rs794726987
|
0.00002
|
NM_001999.4(FBN2):c.1410C>T (p.Gly470=)
|
rs750103822
|
0.00002
|
NM_001999.4(FBN2):c.1412T>C (p.Val471Ala)
|
rs928205576
|
0.00002
|
NM_001999.4(FBN2):c.1422C>T (p.Ala474=)
|
rs764073494
|
0.00002
|
NM_001999.4(FBN2):c.1434C>T (p.Ala478=)
|
rs755786214
|
0.00002
|
NM_001999.4(FBN2):c.150T>C (p.Ala50=)
|
rs543546489
|
0.00002
|
NM_001999.4(FBN2):c.1553G>A (p.Arg518Gln)
|
rs748051713
|
0.00002
|
NM_001999.4(FBN2):c.1685C>T (p.Ala562Val)
|
rs886059902
|
0.00002
|
NM_001999.4(FBN2):c.1734G>C (p.Glu578Asp)
|
rs371046485
|
0.00002
|
NM_001999.4(FBN2):c.1849+8A>G
|
rs747219934
|
0.00002
|
NM_001999.4(FBN2):c.1897A>G (p.Ile633Val)
|
rs748419325
|
0.00002
|
NM_001999.4(FBN2):c.1911C>G (p.Gly637=)
|
rs537558351
|
0.00002
|
NM_001999.4(FBN2):c.1961G>A (p.Arg654His)
|
rs780589159
|
0.00002
|
NM_001999.4(FBN2):c.1973-20T>C
|
rs774598343
|
0.00002
|
NM_001999.4(FBN2):c.1990A>T (p.Thr664Ser)
|
rs746408145
|
0.00002
|
NM_001999.4(FBN2):c.2036C>T (p.Ser679Phe)
|
rs760483684
|
0.00002
|
NM_001999.4(FBN2):c.2219C>G (p.Pro740Arg)
|
rs1204171410
|
0.00002
|
NM_001999.4(FBN2):c.2532G>A (p.Arg844=)
|
rs369638207
|
0.00002
|
NM_001999.4(FBN2):c.255-15G>A
|
rs587780942
|
0.00002
|
NM_001999.4(FBN2):c.2620A>C (p.Asn874His)
|
rs1297639505
|
0.00002
|
NM_001999.4(FBN2):c.2638G>A (p.Gly880Ser)
|
rs555682061
|
0.00002
|
NM_001999.4(FBN2):c.2772C>T (p.Leu924=)
|
rs773453872
|
0.00002
|
NM_001999.4(FBN2):c.2802G>A (p.Arg934=)
|
rs140500093
|
0.00002
|
NM_001999.4(FBN2):c.2811A>G (p.Leu937=)
|
rs1751336276
|
0.00002
|
NM_001999.4(FBN2):c.2901A>G (p.Pro967=)
|
rs185991527
|
0.00002
|
NM_001999.4(FBN2):c.2902A>G (p.Asn968Asp)
|
rs774248421
|
0.00002
|
NM_001999.4(FBN2):c.2941G>A (p.Glu981Lys)
|
rs758694112
|
0.00002
|
NM_001999.4(FBN2):c.2990-8C>T
|
rs370825177
|
0.00002
|
NM_001999.4(FBN2):c.3041A>C (p.His1014Pro)
|
rs551801199
|
0.00002
|
NM_001999.4(FBN2):c.3092C>T (p.Ala1031Val)
|
rs754884110
|
0.00002
|
NM_001999.4(FBN2):c.3150G>A (p.Thr1050=)
|
rs201631085
|
0.00002
|
NM_001999.4(FBN2):c.3349G>A (p.Asp1117Asn)
|
rs537477883
|
0.00002
|
NM_001999.4(FBN2):c.3404C>T (p.Pro1135Leu)
|
rs772041342
|
0.00002
|
NM_001999.4(FBN2):c.3432A>G (p.Glu1144=)
|
rs757682009
|
0.00002
|
NM_001999.4(FBN2):c.3442A>G (p.Ser1148Gly)
|
rs764809572
|
0.00002
|
NM_001999.4(FBN2):c.3464A>G (p.Asn1155Ser)
|
rs150224718
|
0.00002
|
NM_001999.4(FBN2):c.362A>G (p.Asp121Gly)
|
rs770483769
|
0.00002
|
NM_001999.4(FBN2):c.3957C>G (p.Asp1319Glu)
|
rs769665538
|
0.00002
|
NM_001999.4(FBN2):c.3993A>G (p.Leu1331=)
|
rs141505866
|
0.00002
|
NM_001999.4(FBN2):c.4009A>G (p.Met1337Val)
|
rs776567929
|
0.00002
|
NM_001999.4(FBN2):c.404G>A (p.Gly135Glu)
|
rs778566871
|
0.00002
|
NM_001999.4(FBN2):c.4099+8T>C
|
rs765204163
|
0.00002
|
NM_001999.4(FBN2):c.4489T>G (p.Phe1497Val)
|
rs150986564
|
0.00002
|
NM_001999.4(FBN2):c.4497C>T (p.Asn1499=)
|
rs368341114
|
0.00002
|
NM_001999.4(FBN2):c.4779C>T (p.Cys1593=)
|
rs780191346
|
0.00002
|
NM_001999.4(FBN2):c.4801G>A (p.Val1601Ile)
|
rs762108847
|
0.00002
|
NM_001999.4(FBN2):c.4962C>T (p.Cys1654=)
|
rs753935960
|
0.00002
|
NM_001999.4(FBN2):c.5045A>C (p.Tyr1682Ser)
|
rs769474473
|
0.00002
|
NM_001999.4(FBN2):c.5097T>A (p.His1699Gln)
|
rs757807339
|
0.00002
|
NM_001999.4(FBN2):c.5126A>G (p.Tyr1709Cys)
|
rs759117573
|
0.00002
|
NM_001999.4(FBN2):c.533-6A>G
|
rs56400997
|
0.00002
|
NM_001999.4(FBN2):c.5551A>G (p.Ile1851Val)
|
rs779901706
|
0.00002
|
NM_001999.4(FBN2):c.5574T>C (p.Asp1858=)
|
rs757483263
|
0.00002
|
NM_001999.4(FBN2):c.5678G>A (p.Arg1893His)
|
rs368384428
|
0.00002
|
NM_001999.4(FBN2):c.5703C>T (p.Asn1901=)
|
rs746592808
|
0.00002
|
NM_001999.4(FBN2):c.5787G>A (p.Gln1929=)
|
rs746307443
|
0.00002
|
NM_001999.4(FBN2):c.5819G>A (p.Arg1940Gln)
|
rs749907917
|
0.00002
|
NM_001999.4(FBN2):c.5854G>A (p.Val1952Ile)
|
rs763393398
|
0.00002
|
NM_001999.4(FBN2):c.5941T>A (p.Phe1981Ile)
|
rs527609978
|
0.00002
|
NM_001999.4(FBN2):c.6250C>T (p.Pro2084Ser)
|
rs868031420
|
0.00002
|
NM_001999.4(FBN2):c.629-6T>C
|
rs757696693
|
0.00002
|
NM_001999.4(FBN2):c.6329A>G (p.Asn2110Ser)
|
rs1016100479
|
0.00002
|
NM_001999.4(FBN2):c.6490A>G (p.Ser2164Gly)
|
rs763160605
|
0.00002
|
NM_001999.4(FBN2):c.672G>T (p.Met224Ile)
|
rs371292311
|
0.00002
|
NM_001999.4(FBN2):c.6881-5T>G
|
rs772186151
|
0.00002
|
NM_001999.4(FBN2):c.6910G>A (p.Asp2304Asn)
|
rs368802769
|
0.00002
|
NM_001999.4(FBN2):c.6973C>T (p.Pro2325Ser)
|
rs751231315
|
0.00002
|
NM_001999.4(FBN2):c.6984C>T (p.Ala2328=)
|
rs942158485
|
0.00002
|
NM_001999.4(FBN2):c.6989G>A (p.Arg2330Lys)
|
rs886038992
|
0.00002
|
NM_001999.4(FBN2):c.6994G>A (p.Asp2332Asn)
|
rs886059894
|
0.00002
|
NM_001999.4(FBN2):c.69G>T (p.Ala23=)
|
rs774856011
|
0.00002
|
NM_001999.4(FBN2):c.6G>C (p.Gly2=)
|
rs746567292
|
0.00002
|
NM_001999.4(FBN2):c.7033A>G (p.Lys2345Glu)
|
rs1464960068
|
0.00002
|
NM_001999.4(FBN2):c.7137T>G (p.Leu2379=)
|
rs765676702
|
0.00002
|
NM_001999.4(FBN2):c.7138+10C>T
|
rs1187342807
|
0.00002
|
NM_001999.4(FBN2):c.7213G>A (p.Val2405Ile)
|
rs753865904
|
0.00002
|
NM_001999.4(FBN2):c.7247G>A (p.Arg2416Gln)
|
rs755437836
|
0.00002
|
NM_001999.4(FBN2):c.7389T>A (p.Gly2463=)
|
rs749843181
|
0.00002
|
NM_001999.4(FBN2):c.7400A>G (p.Asn2467Ser)
|
rs562508529
|
0.00002
|
NM_001999.4(FBN2):c.7496C>T (p.Pro2499Leu)
|
rs199583859
|
0.00002
|
NM_001999.4(FBN2):c.7511A>G (p.Tyr2504Cys)
|
rs764032053
|
0.00002
|
NM_001999.4(FBN2):c.7595-13T>C
|
rs747620496
|
0.00002
|
NM_001999.4(FBN2):c.7660T>G (p.Phe2554Val)
|
rs775848753
|
0.00002
|
NM_001999.4(FBN2):c.7712-11T>A
|
rs776926809
|
0.00002
|
NM_001999.4(FBN2):c.7780A>G (p.Ser2594Gly)
|
rs1430209734
|
0.00002
|
NM_001999.4(FBN2):c.7960+13T>G
|
rs1023942727
|
0.00002
|
NM_001999.4(FBN2):c.7961-10G>A
|
rs752746367
|
0.00002
|
NM_001999.4(FBN2):c.8019G>C (p.Leu2673=)
|
rs144013739
|
0.00002
|
NM_001999.4(FBN2):c.811A>C (p.Thr271Pro)
|
rs201988564
|
0.00002
|
NM_001999.4(FBN2):c.8207G>A (p.Gly2736Glu)
|
rs149180427
|
0.00002
|
NM_001999.4(FBN2):c.8497C>T (p.Arg2833Cys)
|
rs863223592
|
0.00002
|
NM_001999.4(FBN2):c.8498G>A (p.Arg2833His)
|
rs753753954
|
0.00002
|
NM_001999.4(FBN2):c.8573C>T (p.Thr2858Met)
|
rs754475064
|
0.00002
|
NM_001999.4(FBN2):c.891C>A (p.Gly297=)
|
rs539258943
|
0.00002
|
NM_003036.4(SKI):c.1034C>T (p.Ala345Val)
|
rs201599402
|
0.00002
|
NM_003036.4(SKI):c.1059C>T (p.Ser353=)
|
rs375991331
|
0.00002
|
NM_003036.4(SKI):c.1069C>T (p.Arg357Trp)
|
rs370418830
|
0.00002
|
NM_003036.4(SKI):c.1081G>A (p.Gly361Ser)
|
rs759663808
|
0.00002
|
NM_003036.4(SKI):c.1118G>A (p.Arg373His)
|
rs768924434
|
0.00002
|
NM_003036.4(SKI):c.1153G>A (p.Ala385Thr)
|
rs758235470
|
0.00002
|
NM_003036.4(SKI):c.1211+17C>T
|
rs753878221
|
0.00002
|
NM_003036.4(SKI):c.1264G>A (p.Ala422Thr)
|
rs760579911
|
0.00002
|
NM_003036.4(SKI):c.1268C>T (p.Pro423Leu)
|
rs752779978
|
0.00002
|
NM_003036.4(SKI):c.1336C>T (p.Leu446Phe)
|
rs1464178129
|
0.00002
|
NM_003036.4(SKI):c.1382C>T (p.Thr461Ile)
|
rs141464453
|
0.00002
|
NM_003036.4(SKI):c.1400C>T (p.Thr467Met)
|
rs752151031
|
0.00002
|
NM_003036.4(SKI):c.1480T>A (p.Ser494Thr)
|
rs781304969
|
0.00002
|
NM_003036.4(SKI):c.1553C>T (p.Ala518Val)
|
rs776056360
|
0.00002
|
NM_003036.4(SKI):c.1569G>A (p.Ser523=)
|
rs767052019
|
0.00002
|
NM_003036.4(SKI):c.1596C>T (p.Ala532=)
|
rs752673852
|
0.00002
|
NM_003036.4(SKI):c.1599C>T (p.Asp533=)
|
rs758323266
|
0.00002
|
NM_003036.4(SKI):c.1654G>A (p.Gly552Ser)
|
rs1010245755
|
0.00002
|
NM_003036.4(SKI):c.1708C>T (p.Arg570Cys)
|
rs377517039
|
0.00002
|
NM_003036.4(SKI):c.190G>A (p.Val64Met)
|
rs754036418
|
0.00002
|
NM_003036.4(SKI):c.1967C>T (p.Ala656Val)
|
rs571976990
|
0.00002
|
NM_003036.4(SKI):c.2013G>A (p.Gln671=)
|
rs1040803635
|
0.00002
|
NM_003036.4(SKI):c.209C>T (p.Pro70Leu)
|
rs994969301
|
0.00002
|
NM_003036.4(SKI):c.2165G>A (p.Gly722Asp)
|
rs1488554459
|
0.00002
|
NM_003036.4(SKI):c.625C>A (p.Leu209Met)
|
rs771298442
|
0.00002
|
NM_003036.4(SKI):c.762C>T (p.Tyr254=)
|
rs56352201
|
0.00002
|
NM_003036.4(SKI):c.892G>T (p.Ala298Ser)
|
rs769113221
|
0.00002
|
NM_003036.4(SKI):c.930A>G (p.Lys310=)
|
rs751629802
|
0.00002
|
NM_003036.4(SKI):c.938A>G (p.Tyr313Cys)
|
rs767730615
|
0.00002
|
NM_003036.4(SKI):c.975C>T (p.Ser325=)
|
rs753145672
|
0.00002
|
NM_003036.4(SKI):c.985C>T (p.Pro329Ser)
|
rs770539313
|
0.00002
|
NM_003238.6(TGFB2):c.*2509G>T
|
rs967223935
|
0.00002
|
NM_003238.6(TGFB2):c.1087-13T>G
|
rs374394434
|
0.00002
|
NM_003238.6(TGFB2):c.1186A>C (p.Lys396Gln)
|
rs751650226
|
0.00002
|
NM_003238.6(TGFB2):c.251G>A (p.Arg84Gln)
|
rs781392453
|
0.00002
|
NM_003238.6(TGFB2):c.456T>C (p.Phe152=)
|
rs372071268
|
0.00002
|
NM_003238.6(TGFB2):c.798T>A (p.Thr266=)
|
rs376354795
|
0.00002
|
NM_003238.6(TGFB2):c.94T>C (p.Phe32Leu)
|
rs779872141
|
0.00002
|
NM_003239.5(TGFB3):c.1134C>T (p.Cys378=)
|
rs780993645
|
0.00002
|
NM_003239.5(TGFB3):c.324C>T (p.Phe108=)
|
rs779502039
|
0.00002
|
NM_003239.5(TGFB3):c.488G>A (p.Arg163Gln)
|
rs920721092
|
0.00002
|
NM_003239.5(TGFB3):c.529G>A (p.Asp177Asn)
|
rs755611135
|
0.00002
|
NM_003239.5(TGFB3):c.604T>G (p.Phe202Val)
|
rs1474433492
|
0.00002
|
NM_003239.5(TGFB3):c.693C>T (p.Thr231=)
|
rs780510419
|
0.00002
|
NM_003239.5(TGFB3):c.883G>C (p.Gly295Arg)
|
rs766164843
|
0.00002
|
NM_003239.5(TGFB3):c.908A>C (p.Asp303Ala)
|
rs768423844
|
0.00002
|
NM_003239.5(TGFB3):c.927-20A>G
|
rs574227787
|
0.00002
|
NM_003242.6(TGFBR2):c.*579T>C
|
rs1259191128
|
0.00002
|
NM_003242.6(TGFBR2):c.1042C>T (p.Arg348Cys)
|
rs144701411
|
0.00002
|
NM_003242.6(TGFBR2):c.1063G>A (p.Ala355Thr)
|
rs104893813
|
0.00002
|
NM_003242.6(TGFBR2):c.1459A>C (p.Met487Leu)
|
rs767120937
|
0.00002
|
NM_003242.6(TGFBR2):c.927G>A (p.Thr309=)
|
rs756625146
|
0.00002
|
NM_004612.4(TGFBR1):c.*3482C>G
|
rs201952588
|
0.00002
|
NM_004612.4(TGFBR1):c.*4147G>A
|
rs570685518
|
0.00002
|
NM_004612.4(TGFBR1):c.199C>T (p.His67Tyr)
|
rs766157497
|
0.00002
|
NM_004612.4(TGFBR1):c.516A>G (p.Ser172=)
|
rs140245968
|
0.00002
|
NM_004612.4(TGFBR1):c.613A>G (p.Ile205Val)
|
rs200018073
|
0.00002
|
NM_005902.4(SMAD3):c.*1561A>T
|
rs1275046716
|
0.00002
|
NM_005902.4(SMAD3):c.334G>A (p.Ala112Thr)
|
rs770798158
|
0.00002
|
NM_000093.5(COL5A1):c.5217C>A (p.His1739Gln)
|
rs869025374
|
0.00001
|
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.*252G>A
|
rs1407193739
|
0.00001
|
NM_000138.5(FBN1):c.*764G>A
|
rs55717426
|
0.00001
|
NM_000138.5(FBN1):c.*968G>A
|
rs999275120
|
0.00001
|
NM_000138.5(FBN1):c.1026C>T (p.Asn342=)
|
rs769282306
|
0.00001
|
NM_000138.5(FBN1):c.1030C>T (p.Arg344Cys)
|
rs752010116
|
0.00001
|
NM_000138.5(FBN1):c.1031G>A (p.Arg344His)
|
rs200388305
|
0.00001
|
NM_000138.5(FBN1):c.1086C>T (p.Ala362=)
|
rs1338617046
|
0.00001
|
NM_000138.5(FBN1):c.1091G>A (p.Arg364Gln)
|
rs536588176
|
0.00001
|
NM_000138.5(FBN1):c.1108G>T (p.Val370Phe)
|
rs1191931914
|
0.00001
|
NM_000138.5(FBN1):c.1117G>A (p.Ala373Thr)
|
rs766162654
|
0.00001
|
NM_000138.5(FBN1):c.1118C>T (p.Ala373Val)
|
rs762598979
|
0.00001
|
NM_000138.5(FBN1):c.1131T>C (p.Cys377=)
|
rs769211348
|
0.00001
|
NM_000138.5(FBN1):c.1146C>T (p.Thr382=)
|
rs889875676
|
0.00001
|
NM_000138.5(FBN1):c.1147+16G>A
|
rs780632581
|
0.00001
|
NM_000138.5(FBN1):c.1150G>A (p.Asp384Asn)
|
rs1405173549
|
0.00001
|
NM_000138.5(FBN1):c.1167C>T (p.Cys389=)
|
rs746201757
|
0.00001
|
NM_000138.5(FBN1):c.1169C>T (p.Ser390Phe)
|
rs746385384
|
0.00001
|
NM_000138.5(FBN1):c.1174C>G (p.Pro392Ala)
|
rs749467972
|
0.00001
|
NM_000138.5(FBN1):c.1177A>G (p.Met393Val)
|
rs983129867
|
0.00001
|
NM_000138.5(FBN1):c.1215C>A (p.Pro405=)
|
rs1213208601
|
0.00001
|
NM_000138.5(FBN1):c.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.1344C>T (p.Asn448=)
|
rs1281826850
|
0.00001
|
NM_000138.5(FBN1):c.1368C>G (p.Val456=)
|
rs1433264110
|
0.00001
|
NM_000138.5(FBN1):c.1373A>G (p.Tyr458Cys)
|
rs749133312
|
0.00001
|
NM_000138.5(FBN1):c.1407T>G (p.Pro469=)
|
rs1016146856
|
0.00001
|
NM_000138.5(FBN1):c.1417C>T (p.Arg473Trp)
|
rs767068276
|
0.00001
|
NM_000138.5(FBN1):c.1471G>A (p.Val491Ile)
|
rs373751659
|
0.00001
|
NM_000138.5(FBN1):c.1494C>T (p.Pro498=)
|
rs765595961
|
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.1572G>A (p.Thr524=)
|
rs1232119767
|
0.00001
|
NM_000138.5(FBN1):c.15T>C (p.Arg5=)
|
rs1371787168
|
0.00001
|
NM_000138.5(FBN1):c.1603T>A (p.Leu535Ile)
|
rs1485432119
|
0.00001
|
NM_000138.5(FBN1):c.1604T>C (p.Leu535Ser)
|
rs754364317
|
0.00001
|
NM_000138.5(FBN1):c.1605A>G (p.Leu535=)
|
rs778013543
|
0.00001
|
NM_000138.5(FBN1):c.1615C>T (p.Arg539Trp)
|
rs752999845
|
0.00001
|
NM_000138.5(FBN1):c.1634G>A (p.Arg545His)
|
rs193922179
|
0.00001
|
NM_000138.5(FBN1):c.1639A>G (p.Ile547Val)
|
rs759813328
|
0.00001
|
NM_000138.5(FBN1):c.164+12G>A
|
rs571164659
|
0.00001
|
NM_000138.5(FBN1):c.164+18C>T
|
rs772382145
|
0.00001
|
NM_000138.5(FBN1):c.164+6G>A
|
rs760968439
|
0.00001
|
NM_000138.5(FBN1):c.1640T>C (p.Ile547Thr)
|
rs112269822
|
0.00001
|
NM_000138.5(FBN1):c.1647A>T (p.Thr549=)
|
rs2043746264
|
0.00001
|
NM_000138.5(FBN1):c.165-13G>A
|
rs985235880
|
0.00001
|
NM_000138.5(FBN1):c.165-7G>A
|
rs397515761
|
0.00001
|
NM_000138.5(FBN1):c.165-9T>C
|
rs758117122
|
0.00001
|
NM_000138.5(FBN1):c.1653C>T (p.Gly551=)
|
rs766565738
|
0.00001
|
NM_000138.5(FBN1):c.1676C>T (p.Ala559Val)
|
rs141551765
|
0.00001
|
NM_000138.5(FBN1):c.1686T>G (p.His562Gln)
|
rs1220088131
|
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.1714+10G>A
|
rs760474361
|
0.00001
|
NM_000138.5(FBN1):c.1715-12T>C
|
rs1057521270
|
0.00001
|
NM_000138.5(FBN1):c.1715-14T>G
|
rs753746089
|
0.00001
|
NM_000138.5(FBN1):c.1731C>T (p.Ser577=)
|
rs1453708754
|
0.00001
|
NM_000138.5(FBN1):c.174C>A (p.Val58=)
|
rs369096927
|
0.00001
|
NM_000138.5(FBN1):c.1776C>G (p.Gly592=)
|
rs759191650
|
0.00001
|
NM_000138.5(FBN1):c.1779T>C (p.Ser593=)
|
rs372195702
|
0.00001
|
NM_000138.5(FBN1):c.1825C>T (p.Arg609Cys)
|
rs772574901
|
0.00001
|
NM_000138.5(FBN1):c.1826G>A (p.Arg609His)
|
rs770393471
|
0.00001
|
NM_000138.5(FBN1):c.1837+10A>G
|
rs2043731034
|
0.00001
|
NM_000138.5(FBN1):c.1837+9T>C
|
rs56102085
|
0.00001
|
NM_000138.5(FBN1):c.1838-7G>A
|
rs772849691
|
0.00001
|
NM_000138.5(FBN1):c.1844A>G (p.Asn615Ser)
|
rs397515763
|
0.00001
|
NM_000138.5(FBN1):c.1845C>T (p.Asn615=)
|
rs932735615
|
0.00001
|
NM_000138.5(FBN1):c.1856C>A (p.Thr619Asn)
|
rs377686210
|
0.00001
|
NM_000138.5(FBN1):c.1858C>T (p.Pro620Ser)
|
rs1220853793
|
0.00001
|
NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys)
|
rs727503057
|
0.00001
|
NM_000138.5(FBN1):c.1907G>A (p.Arg636Lys)
|
rs1335136151
|
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.1960+17G>A
|
rs749990136
|
0.00001
|
NM_000138.5(FBN1):c.1977C>T (p.Ser659=)
|
rs750118053
|
0.00001
|
NM_000138.5(FBN1):c.2017C>T (p.Pro673Ser)
|
rs766346620
|
0.00001
|
NM_000138.5(FBN1):c.2020T>C (p.Leu674=)
|
rs753453348
|
0.00001
|
NM_000138.5(FBN1):c.2057C>A (p.Ala686Asp)
|
rs193922186
|
0.00001
|
NM_000138.5(FBN1):c.2058C>A (p.Ala686=)
|
rs759859967
|
0.00001
|
NM_000138.5(FBN1):c.207T>C (p.Pro69=)
|
rs771057822
|
0.00001
|
NM_000138.5(FBN1):c.2082A>G (p.Glu694=)
|
rs773288488
|
0.00001
|
NM_000138.5(FBN1):c.2090A>G (p.Gln697Arg)
|
rs769708437
|
0.00001
|
NM_000138.5(FBN1):c.2098C>T (p.Pro700Ser)
|
rs745694291
|
0.00001
|
NM_000138.5(FBN1):c.2106G>T (p.Gln702His)
|
rs778835898
|
0.00001
|
NM_000138.5(FBN1):c.2113+13A>G
|
rs755529582
|
0.00001
|
NM_000138.5(FBN1):c.2113+17A>G
|
rs1246446564
|
0.00001
|
NM_000138.5(FBN1):c.2113+19A>T
|
rs541501178
|
0.00001
|
NM_000138.5(FBN1):c.2113+8G>A
|
rs763708195
|
0.00001
|
NM_000138.5(FBN1):c.2115G>A (p.Ala705=)
|
rs932764622
|
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.2188G>A (p.Asp730Asn)
|
rs199625633
|
0.00001
|
NM_000138.5(FBN1):c.2208T>G (p.Asn736Lys)
|
rs1450795956
|
0.00001
|
NM_000138.5(FBN1):c.2228G>A (p.Arg743His)
|
rs761942436
|
0.00001
|
NM_000138.5(FBN1):c.2253T>C (p.Asn751=)
|
rs1566912218
|
0.00001
|
NM_000138.5(FBN1):c.2293+16C>G
|
rs772889439
|
0.00001
|
NM_000138.5(FBN1):c.2294-19A>C
|
rs1353634853
|
0.00001
|
NM_000138.5(FBN1):c.2294-19A>G
|
rs1353634853
|
0.00001
|
NM_000138.5(FBN1):c.2349T>C (p.Asn783=)
|
rs1057522903
|
0.00001
|
NM_000138.5(FBN1):c.2393A>G (p.Tyr798Cys)
|
rs1064793112
|
0.00001
|
NM_000138.5(FBN1):c.2406A>G (p.Leu802=)
|
rs1490836069
|
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.2531T>C (p.Ile844Thr)
|
rs751564716
|
0.00001
|
NM_000138.5(FBN1):c.2540-7T>C
|
rs749692510
|
0.00001
|
NM_000138.5(FBN1):c.2568T>G (p.Thr856=)
|
rs781607814
|
0.00001
|
NM_000138.5(FBN1):c.2577T>C (p.Asp859=)
|
rs779997664
|
0.00001
|
NM_000138.5(FBN1):c.2598C>T (p.Ile866=)
|
rs752457534
|
0.00001
|
NM_000138.5(FBN1):c.261T>C (p.His87=)
|
rs775220887
|
0.00001
|
NM_000138.5(FBN1):c.2628C>T (p.Cys876=)
|
rs112085967
|
0.00001
|
NM_000138.5(FBN1):c.2634C>T (p.Ser878=)
|
rs770395971
|
0.00001
|
NM_000138.5(FBN1):c.2640T>G (p.Gly880=)
|
rs1597568836
|
0.00001
|
NM_000138.5(FBN1):c.2683A>G (p.Ile895Val)
|
rs772308703
|
0.00001
|
NM_000138.5(FBN1):c.2684T>C (p.Ile895Thr)
|
rs1488064078
|
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.2748G>A (p.Val916=)
|
rs1339922695
|
0.00001
|
NM_000138.5(FBN1):c.2768A>G (p.Asn923Ser)
|
rs1220842179
|
0.00001
|
NM_000138.5(FBN1):c.2771G>T (p.Gly924Val)
|
rs1206476337
|
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.2855-4A>G
|
rs769851513
|
0.00001
|
NM_000138.5(FBN1):c.2858T>C (p.Ile953Thr)
|
rs1177856657
|
0.00001
|
NM_000138.5(FBN1):c.285G>A (p.Ser95=)
|
rs745596276
|
0.00001
|
NM_000138.5(FBN1):c.2877C>A (p.Phe959Leu)
|
rs1411365281
|
0.00001
|
NM_000138.5(FBN1):c.287G>C (p.Arg96Thr)
|
rs794728291
|
0.00001
|
NM_000138.5(FBN1):c.2883G>A (p.Arg961=)
|
rs142964120
|
0.00001
|
NM_000138.5(FBN1):c.2886C>T (p.Tyr962=)
|
rs772108557
|
0.00001
|
NM_000138.5(FBN1):c.2902A>T (p.Thr968Ser)
|
rs752117227
|
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.2935G>A (p.Ala979Thr)
|
rs748915171
|
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.2986T>C (p.Cys996Arg)
|
rs140592
|
0.00001
|
NM_000138.5(FBN1):c.2991C>A (p.Pro997=)
|
rs1225275544
|
0.00001
|
NM_000138.5(FBN1):c.3021G>A (p.Leu1007=)
|
rs764203356
|
0.00001
|
NM_000138.5(FBN1):c.3031G>A (p.Gly1011Arg)
|
rs1267721327
|
0.00001
|
NM_000138.5(FBN1):c.3036C>T (p.Pro1012=)
|
rs766194667
|
0.00001
|
NM_000138.5(FBN1):c.3043G>A (p.Ala1015Thr)
|
rs55831697
|
0.00001
|
NM_000138.5(FBN1):c.3089A>G (p.Asn1030Ser)
|
rs375996640
|
0.00001
|
NM_000138.5(FBN1):c.3128A>G (p.Lys1043Arg)
|
rs137854472
|
0.00001
|
NM_000138.5(FBN1):c.3184G>A (p.Asp1062Asn)
|
rs758366498
|
0.00001
|
NM_000138.5(FBN1):c.3209-3C>A
|
rs397515787
|
0.00001
|
NM_000138.5(FBN1):c.3209-6G>A
|
rs942309418
|
0.00001
|
NM_000138.5(FBN1):c.3209-9T>C
|
rs1188743312
|
0.00001
|
NM_000138.5(FBN1):c.3211A>G (p.Ile1071Val)
|
rs990134651
|
0.00001
|
NM_000138.5(FBN1):c.3214G>A (p.Asp1072Asn)
|
rs778867355
|
0.00001
|
NM_000138.5(FBN1):c.3255G>A (p.Gln1085=)
|
rs767088495
|
0.00001
|
NM_000138.5(FBN1):c.3330C>T (p.Asn1110=)
|
rs374584763
|
0.00001
|
NM_000138.5(FBN1):c.3337+20A>G
|
rs757193641
|
0.00001
|
NM_000138.5(FBN1):c.3348G>A (p.Glu1116=)
|
rs1183230087
|
0.00001
|
NM_000138.5(FBN1):c.3369A>G (p.Leu1123=)
|
rs1245413946
|
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.3405T>A (p.Ser1135Arg)
|
rs777727844
|
0.00001
|
NM_000138.5(FBN1):c.3409C>T (p.Arg1137Cys)
|
rs1439487763
|
0.00001
|
NM_000138.5(FBN1):c.3452C>T (p.Ser1151Phe)
|
rs145146283
|
0.00001
|
NM_000138.5(FBN1):c.3463G>A (p.Asp1155Asn)
|
rs794728204
|
0.00001
|
NM_000138.5(FBN1):c.3464-19C>G
|
rs928322808
|
0.00001
|
NM_000138.5(FBN1):c.3464-3C>T
|
rs770992241
|
0.00001
|
NM_000138.5(FBN1):c.347-19C>A
|
rs755487996
|
0.00001
|
NM_000138.5(FBN1):c.347-2A>G
|
rs1555405056
|
0.00001
|
NM_000138.5(FBN1):c.3522C>T (p.Leu1174=)
|
rs778312047
|
0.00001
|
NM_000138.5(FBN1):c.353A>G (p.His118Arg)
|
rs765503809
|
0.00001
|
NM_000138.5(FBN1):c.3560A>G (p.His1187Arg)
|
rs193922200
|
0.00001
|
NM_000138.5(FBN1):c.3563C>T (p.Ser1188Leu)
|
rs1057520181
|
0.00001
|
NM_000138.5(FBN1):c.3570C>T (p.Pro1190=)
|
rs188317014
|
0.00001
|
NM_000138.5(FBN1):c.3571G>A (p.Asp1191Asn)
|
rs370121450
|
0.00001
|
NM_000138.5(FBN1):c.3592A>G (p.Ile1198Val)
|
rs370572503
|
0.00001
|
NM_000138.5(FBN1):c.3593T>C (p.Ile1198Thr)
|
rs755375255
|
0.00001
|
NM_000138.5(FBN1):c.3654C>T (p.Ser1218=)
|
rs760712674
|
0.00001
|
NM_000138.5(FBN1):c.365G>A (p.Arg122His)
|
rs1010750845
|
0.00001
|
NM_000138.5(FBN1):c.3674C>T (p.Pro1225Leu)
|
rs775532488
|
0.00001
|
NM_000138.5(FBN1):c.3688A>C (p.Met1230Leu)
|
rs759424465
|
0.00001
|
NM_000138.5(FBN1):c.3689T>C (p.Met1230Thr)
|
rs774003646
|
0.00001
|
NM_000138.5(FBN1):c.3693T>C (p.Pro1231=)
|
rs1364910158
|
0.00001
|
NM_000138.5(FBN1):c.370A>G (p.Met124Val)
|
rs764224168
|
0.00001
|
NM_000138.5(FBN1):c.3711C>T (p.Thr1237=)
|
rs536369260
|
0.00001
|
NM_000138.5(FBN1):c.3713-5T>C
|
rs1412125032
|
0.00001
|
NM_000138.5(FBN1):c.3717C>T (p.Ile1239=)
|
rs759387957
|
0.00001
|
NM_000138.5(FBN1):c.3718G>A (p.Asp1240Asn)
|
rs573187346
|
0.00001
|
NM_000138.5(FBN1):c.3740A>T (p.Asn1247Ile)
|
rs568625812
|
0.00001
|
NM_000138.5(FBN1):c.3762C>T (p.Cys1254=)
|
rs1555398286
|
0.00001
|
NM_000138.5(FBN1):c.3797A>T (p.Tyr1266Phe)
|
rs200283837
|
0.00001
|
NM_000138.5(FBN1):c.3811G>A (p.Ala1271Thr)
|
rs993279983
|
0.00001
|
NM_000138.5(FBN1):c.3834T>C (p.Cys1278=)
|
rs886039492
|
0.00001
|
NM_000138.5(FBN1):c.3845A>G (p.Asn1282Ser)
|
rs140647
|
0.00001
|
NM_000138.5(FBN1):c.3897G>A (p.Thr1299=)
|
rs771283158
|
0.00001
|
NM_000138.5(FBN1):c.392A>G (p.Asp131Gly)
|
rs1655998227
|
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.4007A>G (p.His1336Arg)
|
rs886038781
|
0.00001
|
NM_000138.5(FBN1):c.4012G>A (p.Val1338Ile)
|
rs1416288007
|
0.00001
|
NM_000138.5(FBN1):c.4046G>C (p.Ser1349Thr)
|
rs1373690375
|
0.00001
|
NM_000138.5(FBN1):c.4056C>T (p.Pro1352=)
|
rs766969494
|
0.00001
|
NM_000138.5(FBN1):c.4057G>A (p.Gly1353Arg)
|
rs187177496
|
0.00001
|
NM_000138.5(FBN1):c.4059G>T (p.Gly1353=)
|
rs886038250
|
0.00001
|
NM_000138.5(FBN1):c.4075A>G (p.Ile1359Val)
|
rs202192505
|
0.00001
|
NM_000138.5(FBN1):c.4087+6T>A
|
rs746201265
|
0.00001
|
NM_000138.5(FBN1):c.4089T>C (p.Asp1363=)
|
rs751099175
|
0.00001
|
NM_000138.5(FBN1):c.4106A>G (p.Asn1369Ser)
|
rs370923981
|
0.00001
|
NM_000138.5(FBN1):c.4161C>T (p.Tyr1387=)
|
rs1332403498
|
0.00001
|
NM_000138.5(FBN1):c.4170G>A (p.Leu1390=)
|
rs1229052328
|
0.00001
|
NM_000138.5(FBN1):c.4211-18G>A
|
rs532573637
|
0.00001
|
NM_000138.5(FBN1):c.4218T>C (p.Asp1406=)
|
rs759712586
|
0.00001
|
NM_000138.5(FBN1):c.4250A>G (p.Asn1417Ser)
|
rs768531262
|
0.00001
|
NM_000138.5(FBN1):c.4251T>C (p.Asn1417=)
|
rs1428390270
|
0.00001
|
NM_000138.5(FBN1):c.426G>A (p.Gly142=)
|
rs1391070461
|
0.00001
|
NM_000138.5(FBN1):c.4272A>G (p.Pro1424=)
|
rs1187173937
|
0.00001
|
NM_000138.5(FBN1):c.4282C>T (p.Arg1428Cys)
|
rs1258352189
|
0.00001
|
NM_000138.5(FBN1):c.4283G>A (p.Arg1428His)
|
rs778219976
|
0.00001
|
NM_000138.5(FBN1):c.4294G>A (p.Asp1432Asn)
|
rs778145681
|
0.00001
|
NM_000138.5(FBN1):c.4306G>A (p.Val1436Met)
|
rs377338217
|
0.00001
|
NM_000138.5(FBN1):c.4312A>G (p.Ser1438Gly)
|
rs1309215883
|
0.00001
|
NM_000138.5(FBN1):c.4313G>A (p.Ser1438Asn)
|
rs587782945
|
0.00001
|
NM_000138.5(FBN1):c.4320C>T (p.Asp1440=)
|
rs375157552
|
0.00001
|
NM_000138.5(FBN1):c.4328C>T (p.Ala1443Val)
|
rs560230585
|
0.00001
|
NM_000138.5(FBN1):c.4336+10G>C
|
rs1475499953
|
0.00001
|
NM_000138.5(FBN1):c.4336+11G>A
|
rs886051249
|
0.00001
|
NM_000138.5(FBN1):c.4337-6C>G
|
rs1225924246
|
0.00001
|
NM_000138.5(FBN1):c.4359G>A (p.Pro1453=)
|
rs748551052
|
0.00001
|
NM_000138.5(FBN1):c.4401G>T (p.Leu1467=)
|
rs747377334
|
0.00001
|
NM_000138.5(FBN1):c.442+17T>A
|
rs779385878
|
0.00001
|
NM_000138.5(FBN1):c.4428C>T (p.Tyr1476=)
|
rs767462642
|
0.00001
|
NM_000138.5(FBN1):c.442C>T (p.Pro148Ser)
|
rs780624885
|
0.00001
|
NM_000138.5(FBN1):c.4444G>A (p.Gly1482Ser)
|
rs762532435
|
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.4541C>T (p.Pro1514Leu)
|
rs746205136
|
0.00001
|
NM_000138.5(FBN1):c.4568G>A (p.Arg1523Gln)
|
rs201546777
|
0.00001
|
NM_000138.5(FBN1):c.4581T>C (p.Val1527=)
|
rs2043340510
|
0.00001
|
NM_000138.5(FBN1):c.4583-5A>C
|
rs778966916
|
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.4622G>A (p.Arg1541Gln)
|
rs753491504
|
0.00001
|
NM_000138.5(FBN1):c.465C>A (p.Leu155=)
|
rs1287033860
|
0.00001
|
NM_000138.5(FBN1):c.4695T>A (p.Ser1565=)
|
rs1891548285
|
0.00001
|
NM_000138.5(FBN1):c.4707C>G (p.Ala1569=)
|
rs397515813
|
0.00001
|
NM_000138.5(FBN1):c.4718C>T (p.Pro1573Leu)
|
rs1286993730
|
0.00001
|
NM_000138.5(FBN1):c.4736C>T (p.Ala1579Val)
|
rs772009116
|
0.00001
|
NM_000138.5(FBN1):c.4747+7G>A
|
rs967122284
|
0.00001
|
NM_000138.5(FBN1):c.4747T>G (p.Ser1583Ala)
|
rs959567666
|
0.00001
|
NM_000138.5(FBN1):c.4748-9T>C
|
rs760640909
|
0.00001
|
NM_000138.5(FBN1):c.4772G>A (p.Gly1591Glu)
|
rs772818208
|
0.00001
|
NM_000138.5(FBN1):c.4802C>A (p.Thr1601Asn)
|
rs1363357978
|
0.00001
|
NM_000138.5(FBN1):c.4816+14C>T
|
rs572479986
|
0.00001
|
NM_000138.5(FBN1):c.4817-10A>G
|
rs368644662
|
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.4894C>T (p.Arg1632Cys)
|
rs544990350
|
0.00001
|
NM_000138.5(FBN1):c.4895G>A (p.Arg1632His)
|
rs756227025
|
0.00001
|
NM_000138.5(FBN1):c.4906G>A (p.Gly1636Ser)
|
rs767451077
|
0.00001
|
NM_000138.5(FBN1):c.4913A>C (p.Tyr1638Ser)
|
rs374520085
|
0.00001
|
NM_000138.5(FBN1):c.4926T>C (p.Asp1642=)
|
rs140629
|
0.00001
|
NM_000138.5(FBN1):c.4931G>A (p.Arg1644Gln)
|
rs768366890
|
0.00001
|
NM_000138.5(FBN1):c.4943-3T>C
|
rs367594261
|
0.00001
|
NM_000138.5(FBN1):c.494G>A (p.Arg165Gln)
|
rs1060501079
|
0.00001
|
NM_000138.5(FBN1):c.5007C>T (p.Asn1669=)
|
rs1267512714
|
0.00001
|
NM_000138.5(FBN1):c.5086T>C (p.Tyr1696His)
|
rs373320952
|
0.00001
|
NM_000138.5(FBN1):c.509A>G (p.Tyr170Cys)
|
rs1228647846
|
0.00001
|
NM_000138.5(FBN1):c.5142G>A (p.Met1714Ile)
|
rs368287795
|
0.00001
|
NM_000138.5(FBN1):c.5147A>T (p.Lys1716Met)
|
rs2043292832
|
0.00001
|
NM_000138.5(FBN1):c.5184G>A (p.Ala1728=)
|
rs754660497
|
0.00001
|
NM_000138.5(FBN1):c.5225-19C>T
|
rs375761937
|
0.00001
|
NM_000138.5(FBN1):c.5225-7A>G
|
rs761196321
|
0.00001
|
NM_000138.5(FBN1):c.5268C>A (p.Val1756=)
|
rs764685311
|
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.5296+13G>A
|
rs781168268
|
0.00001
|
NM_000138.5(FBN1):c.5304T>A (p.Asp1768Glu)
|
rs867058901
|
0.00001
|
NM_000138.5(FBN1):c.5312G>A (p.Arg1771Gln)
|
rs759791896
|
0.00001
|
NM_000138.5(FBN1):c.5340A>C (p.Gly1780=)
|
rs766501385
|
0.00001
|
NM_000138.5(FBN1):c.5347A>T (p.Ile1783Phe)
|
rs1232797551
|
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.5441A>G (p.Asn1814Ser)
|
rs775463311
|
0.00001
|
NM_000138.5(FBN1):c.5449G>A (p.Val1817Met)
|
rs757901214
|
0.00001
|
NM_000138.5(FBN1):c.5459G>A (p.Arg1820His)
|
rs1340155407
|
0.00001
|
NM_000138.5(FBN1):c.5464G>A (p.Ala1822Thr)
|
rs777539060
|
0.00001
|
NM_000138.5(FBN1):c.5471G>A (p.Cys1824Tyr)
|
rs1597537858
|
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.5512G>A (p.Gly1838Ser)
|
rs397515823
|
0.00001
|
NM_000138.5(FBN1):c.5545+10G>C
|
rs1231571005
|
0.00001
|
NM_000138.5(FBN1):c.5546-4A>C
|
rs919423974
|
0.00001
|
NM_000138.5(FBN1):c.5548C>T (p.Arg1850Cys)
|
rs750720912
|
0.00001
|
NM_000138.5(FBN1):c.5549G>A (p.Arg1850His)
|
rs779174265
|
0.00001
|
NM_000138.5(FBN1):c.5582G>A (p.Ser1861Asn)
|
rs766358553
|
0.00001
|
NM_000138.5(FBN1):c.5585A>G (p.His1862Arg)
|
rs976161721
|
0.00001
|
NM_000138.5(FBN1):c.5596A>G (p.Ile1866Val)
|
rs367586350
|
0.00001
|
NM_000138.5(FBN1):c.5603C>T (p.Thr1868Ile)
|
rs145082616
|
0.00001
|
NM_000138.5(FBN1):c.5630A>G (p.His1877Arg)
|
rs746473206
|
0.00001
|
NM_000138.5(FBN1):c.5671+11_5671+13dup
|
rs779987733
|
0.00001
|
NM_000138.5(FBN1):c.573C>T (p.Ser191=)
|
rs749627551
|
0.00001
|
NM_000138.5(FBN1):c.5753A>G (p.His1918Arg)
|
rs993464239
|
0.00001
|
NM_000138.5(FBN1):c.5771A>G (p.His1924Arg)
|
rs748230405
|
0.00001
|
NM_000138.5(FBN1):c.5776A>G (p.Asn1926Asp)
|
rs1060501097
|
0.00001
|
NM_000138.5(FBN1):c.5776_5778del (p.Asn1926del)
|
rs886038964
|
0.00001
|
NM_000138.5(FBN1):c.5788+5G>A
|
rs193922219
|
0.00001
|
NM_000138.5(FBN1):c.5805A>C (p.Ala1935=)
|
rs755825254
|
0.00001
|
NM_000138.5(FBN1):c.5817G>A (p.Gly1939=)
|
rs767097888
|
0.00001
|
NM_000138.5(FBN1):c.5875A>G (p.Asn1959Asp)
|
rs956702513
|
0.00001
|
NM_000138.5(FBN1):c.5876A>G (p.Asn1959Ser)
|
rs773486280
|
0.00001
|
NM_000138.5(FBN1):c.590G>A (p.Gly197Glu)
|
rs895824095
|
0.00001
|
NM_000138.5(FBN1):c.5977G>A (p.Asp1993Asn)
|
rs377671719
|
0.00001
|
NM_000138.5(FBN1):c.598A>G (p.Ser200Gly)
|
rs1057036462
|
0.00001
|
NM_000138.5(FBN1):c.5991A>G (p.Arg1997=)
|
rs201346996
|
0.00001
|
NM_000138.5(FBN1):c.6001C>T (p.Pro2001Ser)
|
rs921321822
|
0.00001
|
NM_000138.5(FBN1):c.6025G>A (p.Glu2009Lys)
|
rs773204216
|
0.00001
|
NM_000138.5(FBN1):c.6038-18C>T
|
rs767567399
|
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.6099A>G (p.Glu2033=)
|
rs1397665480
|
0.00001
|
NM_000138.5(FBN1):c.610T>C (p.Cys204Arg)
|
rs2044026132
|
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.6147T>C (p.Ser2049=)
|
rs553959381
|
0.00001
|
NM_000138.5(FBN1):c.6163+2dup
|
rs794728315
|
0.00001
|
NM_000138.5(FBN1):c.6163+9C>G
|
rs547396976
|
0.00001
|
NM_000138.5(FBN1):c.6187G>A (p.Ala2063Thr)
|
rs1316593215
|
0.00001
|
NM_000138.5(FBN1):c.6196G>A (p.Glu2066Lys)
|
rs1219570062
|
0.00001
|
NM_000138.5(FBN1):c.6231T>C (p.Asn2077=)
|
rs2043085335
|
0.00001
|
NM_000138.5(FBN1):c.6244G>C (p.Glu2082Gln)
|
rs1052480459
|
0.00001
|
NM_000138.5(FBN1):c.6289G>A (p.Glu2097Lys)
|
rs397515831
|
0.00001
|
NM_000138.5(FBN1):c.6315G>A (p.Glu2105=)
|
rs1478813051
|
0.00001
|
NM_000138.5(FBN1):c.6323G>A (p.Arg2108His)
|
rs762659907
|
0.00001
|
NM_000138.5(FBN1):c.6336T>C (p.Pro2112=)
|
rs772876451
|
0.00001
|
NM_000138.5(FBN1):c.6354C>T (p.Ile2118=)
|
rs112989722
|
0.00001
|
NM_000138.5(FBN1):c.6379+17G>A
|
rs1432052846
|
0.00001
|
NM_000138.5(FBN1):c.6380-19T>A
|
rs764874493
|
0.00001
|
NM_000138.5(FBN1):c.639C>T (p.Val213=)
|
rs543984363
|
0.00001
|
NM_000138.5(FBN1):c.6402C>T (p.Pro2134=)
|
rs772439885
|
0.00001
|
NM_000138.5(FBN1):c.6403G>A (p.Asp2135Asn)
|
rs746167150
|
0.00001
|
NM_000138.5(FBN1):c.6416A>G (p.His2139Arg)
|
rs794728248
|
0.00001
|
NM_000138.5(FBN1):c.6417T>C (p.His2139=)
|
rs551162566
|
0.00001
|
NM_000138.5(FBN1):c.6438T>C (p.Asp2146=)
|
rs1398482166
|
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.6496+3G>A
|
rs750222196
|
0.00001
|
NM_000138.5(FBN1):c.6497-12G>C
|
rs369726558
|
0.00001
|
NM_000138.5(FBN1):c.6499A>C (p.Thr2167Pro)
|
rs373510719
|
0.00001
|
NM_000138.5(FBN1):c.654C>G (p.Gly218=)
|
rs375181377
|
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.6601A>G (p.Met2201Val)
|
rs776823384
|
0.00001
|
NM_000138.5(FBN1):c.6609A>G (p.Thr2203=)
|
rs547573220
|
0.00001
|
NM_000138.5(FBN1):c.6616+8T>A
|
rs371898247
|
0.00001
|
NM_000138.5(FBN1):c.6617-11C>A
|
rs932325724
|
0.00001
|
NM_000138.5(FBN1):c.6659G>A (p.Arg2220Gln)
|
rs780651466
|
0.00001
|
NM_000138.5(FBN1):c.6675T>C (p.Tyr2225=)
|
rs1260533788
|
0.00001
|
NM_000138.5(FBN1):c.6709G>A (p.Val2237Met)
|
rs764218640
|
0.00001
|
NM_000138.5(FBN1):c.6724C>T (p.Arg2242Cys)
|
rs779749926
|
0.00001
|
NM_000138.5(FBN1):c.6725G>A (p.Arg2242His)
|
rs773084230
|
0.00001
|
NM_000138.5(FBN1):c.6739+10C>T
|
rs1179540326
|
0.00001
|
NM_000138.5(FBN1):c.6745G>A (p.Asp2249Asn)
|
rs746666535
|
0.00001
|
NM_000138.5(FBN1):c.6768T>C (p.His2256=)
|
rs1047633779
|
0.00001
|
NM_000138.5(FBN1):c.6772T>G (p.Cys2258Gly)
|
rs1057520617
|
0.00001
|
NM_000138.5(FBN1):c.6783A>C (p.Lys2261Asn)
|
rs771716423
|
0.00001
|
NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr)
|
rs193922228
|
0.00001
|
NM_000138.5(FBN1):c.6835G>A (p.Gly2279Arg)
|
rs759674700
|
0.00001
|
NM_000138.5(FBN1):c.6845G>A (p.Arg2282Gln)
|
rs759696323
|
0.00001
|
NM_000138.5(FBN1):c.6859G>C (p.Glu2287Gln)
|
rs551736585
|
0.00001
|
NM_000138.5(FBN1):c.6871+12C>A
|
rs770526904
|
0.00001
|
NM_000138.5(FBN1):c.687C>G (p.His229Gln)
|
rs1391600366
|
0.00001
|
NM_000138.5(FBN1):c.6891G>A (p.Thr2297=)
|
rs764092264
|
0.00001
|
NM_000138.5(FBN1):c.6916C>T (p.Arg2306Cys)
|
rs1318405523
|
0.00001
|
NM_000138.5(FBN1):c.6917G>A (p.Arg2306His)
|
rs770443276
|
0.00001
|
NM_000138.5(FBN1):c.6932G>A (p.Arg2311His)
|
rs141868829
|
0.00001
|
NM_000138.5(FBN1):c.6969C>T (p.Thr2323=)
|
rs773655866
|
0.00001
|
NM_000138.5(FBN1):c.6970G>A (p.Ala2324Thr)
|
rs148831709
|
0.00001
|
NM_000138.5(FBN1):c.6988G>A (p.Glu2330Lys)
|
rs1042807324
|
0.00001
|
NM_000138.5(FBN1):c.6997+15C>T
|
rs1453967282
|
0.00001
|
NM_000138.5(FBN1):c.6997+3G>A
|
rs1270425478
|
0.00001
|
NM_000138.5(FBN1):c.7057A>G (p.Ser2353Gly)
|
rs886042199
|
0.00001
|
NM_000138.5(FBN1):c.7071C>T (p.Pro2357=)
|
rs397515843
|
0.00001
|
NM_000138.5(FBN1):c.7082C>T (p.Ser2361Leu)
|
rs397515844
|
0.00001
|
NM_000138.5(FBN1):c.7083G>A (p.Ser2361=)
|
rs1597517953
|
0.00001
|
NM_000138.5(FBN1):c.7181G>A (p.Arg2394Gln)
|
rs199750146
|
0.00001
|
NM_000138.5(FBN1):c.7183G>A (p.Gly2395Arg)
|
rs1448650040
|
0.00001
|
NM_000138.5(FBN1):c.7189A>G (p.Met2397Val)
|
rs774698871
|
0.00001
|
NM_000138.5(FBN1):c.7196A>G (p.Asn2399Ser)
|
rs1428791574
|
0.00001
|
NM_000138.5(FBN1):c.7204+6T>G
|
rs534417939
|
0.00001
|
NM_000138.5(FBN1):c.7209C>T (p.Ile2403=)
|
rs767903343
|
0.00001
|
NM_000138.5(FBN1):c.7228C>T (p.His2410Tyr)
|
rs548057493
|
0.00001
|
NM_000138.5(FBN1):c.722C>T (p.Thr241Met)
|
rs747049980
|
0.00001
|
NM_000138.5(FBN1):c.7257C>T (p.Val2419=)
|
rs745715311
|
0.00001
|
NM_000138.5(FBN1):c.7272A>G (p.Ser2424=)
|
rs1259699671
|
0.00001
|
NM_000138.5(FBN1):c.7317G>C (p.Gly2439=)
|
rs766871786
|
0.00001
|
NM_000138.5(FBN1):c.7330+10T>G
|
rs375569743
|
0.00001
|
NM_000138.5(FBN1):c.7330+4A>G
|
rs750677373
|
0.00001
|
NM_000138.5(FBN1):c.7330+5G>A
|
rs1330909386
|
0.00001
|
NM_000138.5(FBN1):c.7330+7G>A
|
rs765544479
|
0.00001
|
NM_000138.5(FBN1):c.7335G>T (p.Leu2445=)
|
rs754460527
|
0.00001
|
NM_000138.5(FBN1):c.7339G>A (p.Glu2447Lys)
|
rs137854464
|
0.00001
|
NM_000138.5(FBN1):c.736+10G>T
|
rs1183919688
|
0.00001
|
NM_000138.5(FBN1):c.736+8C>T
|
rs753703175
|
0.00001
|
NM_000138.5(FBN1):c.7360C>A (p.Pro2454Thr)
|
rs1166405014
|
0.00001
|
NM_000138.5(FBN1):c.7361C>T (p.Pro2454Leu)
|
rs1555394410
|
0.00001
|
NM_000138.5(FBN1):c.7413G>A (p.Pro2471=)
|
rs769588855
|
0.00001
|
NM_000138.5(FBN1):c.7521C>T (p.Phe2507=)
|
rs111895751
|
0.00001
|
NM_000138.5(FBN1):c.7529A>G (p.Lys2510Arg)
|
rs767602851
|
0.00001
|
NM_000138.5(FBN1):c.7539C>T (p.Pro2513=)
|
rs144713268
|
0.00001
|
NM_000138.5(FBN1):c.7559C>T (p.Thr2520Met)
|
rs763759308
|
0.00001
|
NM_000138.5(FBN1):c.7567A>C (p.Ile2523Leu)
|
rs199524640
|
0.00001
|
NM_000138.5(FBN1):c.756C>T (p.Ala252=)
|
rs1398534692
|
0.00001
|
NM_000138.5(FBN1):c.7570+8G>A
|
rs1215672755
|
0.00001
|
NM_000138.5(FBN1):c.7570+9G>A
|
rs745370940
|
0.00001
|
NM_000138.5(FBN1):c.7571-7C>A
|
rs1229246967
|
0.00001
|
NM_000138.5(FBN1):c.757A>G (p.Ile253Val)
|
rs1422959121
|
0.00001
|
NM_000138.5(FBN1):c.7598A>G (p.Asn2533Ser)
|
rs111231879
|
0.00001
|
NM_000138.5(FBN1):c.759C>T (p.Ile253=)
|
rs1403909880
|
0.00001
|
NM_000138.5(FBN1):c.75G>A (p.Ala25=)
|
rs543230518
|
0.00001
|
NM_000138.5(FBN1):c.7602G>A (p.Leu2534=)
|
rs1392530685
|
0.00001
|
NM_000138.5(FBN1):c.7605C>T (p.Cys2535=)
|
rs113544411
|
0.00001
|
NM_000138.5(FBN1):c.7617C>T (p.Gly2539=)
|
rs1388794275
|
0.00001
|
NM_000138.5(FBN1):c.762C>T (p.Pro254=)
|
rs374318726
|
0.00001
|
NM_000138.5(FBN1):c.7632T>C (p.Thr2544=)
|
rs1409771185
|
0.00001
|
NM_000138.5(FBN1):c.763G>A (p.Gly255Arg)
|
rs781113082
|
0.00001
|
NM_000138.5(FBN1):c.7647C>T (p.Thr2549=)
|
rs1184032259
|
0.00001
|
NM_000138.5(FBN1):c.7700-20T>C
|
rs747269059
|
0.00001
|
NM_000138.5(FBN1):c.7702G>A (p.Val2568Met)
|
rs138558987
|
0.00001
|
NM_000138.5(FBN1):c.7707C>T (p.Asp2569=)
|
rs756093148
|
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.7819+9C>T
|
rs971180549
|
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.7848C>G (p.Ile2616Met)
|
rs138184493
|
0.00001
|
NM_000138.5(FBN1):c.7875C>T (p.Thr2625=)
|
rs1344417150
|
0.00001
|
NM_000138.5(FBN1):c.7903G>A (p.Ala2635Thr)
|
rs746859988
|
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.7929T>C (p.Ser2643=)
|
rs745524158
|
0.00001
|
NM_000138.5(FBN1):c.7949A>G (p.Asn2650Ser)
|
rs756819682
|
0.00001
|
NM_000138.5(FBN1):c.7968G>A (p.Gln2656=)
|
rs753203216
|
0.00001
|
NM_000138.5(FBN1):c.796G>A (p.Val266Ile)
|
rs201669595
|
0.00001
|
NM_000138.5(FBN1):c.7971C>A (p.Ala2657=)
|
rs2042897134
|
0.00001
|
NM_000138.5(FBN1):c.7998C>T (p.Thr2666=)
|
rs1374170310
|
0.00001
|
NM_000138.5(FBN1):c.8026C>T (p.Pro2676Ser)
|
rs745650955
|
0.00001
|
NM_000138.5(FBN1):c.8029G>A (p.Gly2677Ser)
|
rs1566889839
|
0.00001
|
NM_000138.5(FBN1):c.8039G>A (p.Arg2680His)
|
rs748934203
|
0.00001
|
NM_000138.5(FBN1):c.8049A>G (p.Gln2683=)
|
rs1208510012
|
0.00001
|
NM_000138.5(FBN1):c.8051+20G>T
|
rs781718760
|
0.00001
|
NM_000138.5(FBN1):c.8051+5G>A
|
rs767384075
|
0.00001
|
NM_000138.5(FBN1):c.8051+7A>G
|
rs755589553
|
0.00001
|
NM_000138.5(FBN1):c.8052-20A>G
|
rs939834412
|
0.00001
|
NM_000138.5(FBN1):c.8123A>G (p.Asn2708Ser)
|
rs759494825
|
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.8199A>T (p.Thr2733=)
|
rs1372383251
|
0.00001
|
NM_000138.5(FBN1):c.8218A>G (p.Asn2740Asp)
|
rs397515860
|
0.00001
|
NM_000138.5(FBN1):c.8223C>T (p.Ile2741=)
|
rs150065311
|
0.00001
|
NM_000138.5(FBN1):c.8227-3C>T
|
rs200822151
|
0.00001
|
NM_000138.5(FBN1):c.8257C>G (p.Leu2753Val)
|
rs1253681259
|
0.00001
|
NM_000138.5(FBN1):c.8261C>T (p.Ala2754Val)
|
rs1372306620
|
0.00001
|
NM_000138.5(FBN1):c.826G>A (p.Gly276Arg)
|
rs1220647446
|
0.00001
|
NM_000138.5(FBN1):c.8287A>G (p.Ile2763Val)
|
rs775172479
|
0.00001
|
NM_000138.5(FBN1):c.8295T>A (p.Ala2765=)
|
rs1417594908
|
0.00001
|
NM_000138.5(FBN1):c.8314A>G (p.Ser2772Gly)
|
rs778014965
|
0.00001
|
NM_000138.5(FBN1):c.8326C>T (p.Arg2776Ter)
|
rs137854466
|
0.00001
|
NM_000138.5(FBN1):c.8331C>G (p.Ile2777Met)
|
rs1427984176
|
0.00001
|
NM_000138.5(FBN1):c.8364G>A (p.Thr2788=)
|
rs112945086
|
0.00001
|
NM_000138.5(FBN1):c.8418C>G (p.Ile2806Met)
|
rs1480715909
|
0.00001
|
NM_000138.5(FBN1):c.8449T>G (p.Phe2817Val)
|
rs148741353
|
0.00001
|
NM_000138.5(FBN1):c.8466A>G (p.Pro2822=)
|
rs147279938
|
0.00001
|
NM_000138.5(FBN1):c.8494A>G (p.Ser2832Gly)
|
rs376933421
|
0.00001
|
NM_000138.5(FBN1):c.8509T>C (p.Tyr2837His)
|
rs1306203757
|
0.00001
|
NM_000138.5(FBN1):c.8524C>T (p.Leu2842Phe)
|
rs755903722
|
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.855A>G (p.Lys285=)
|
rs1272913373
|
0.00001
|
NM_000138.5(FBN1):c.8598C>A (p.Ile2866=)
|
rs1566888537
|
0.00001
|
NM_000138.5(FBN1):c.8606T>C (p.Leu2869Ser)
|
rs363848
|
0.00001
|
NM_000138.5(FBN1):c.862+3A>G
|
rs1555401453
|
0.00001
|
NM_000138.5(FBN1):c.863A>G (p.Asp288Gly)
|
rs565078451
|
0.00001
|
NM_000138.5(FBN1):c.876C>T (p.Cys292=)
|
rs1286340387
|
0.00001
|
NM_000138.5(FBN1):c.913A>G (p.Thr305Ala)
|
rs758035051
|
0.00001
|
NM_000138.5(FBN1):c.91G>A (p.Ala31Thr)
|
rs371130701
|
0.00001
|
NM_000138.5(FBN1):c.921A>C (p.Thr307=)
|
rs1341105449
|
0.00001
|
NM_000138.5(FBN1):c.954T>A (p.Gly318=)
|
rs753055657
|
0.00001
|
NM_000138.5(FBN1):c.963C>T (p.Thr321=)
|
rs767914958
|
0.00001
|
NM_000138.5(FBN1):c.969A>G (p.Pro323=)
|
rs759743242
|
0.00001
|
NM_000138.5(FBN1):c.987A>G (p.Ile329Met)
|
rs1289726476
|
0.00001
|
NM_000138.5(FBN1):c.988+17A>G
|
rs778476790
|
0.00001
|
NM_000138.5(FBN1):c.989-10T>C
|
rs774104217
|
0.00001
|
NM_000138.5(FBN1):c.989-18G>A
|
rs759275834
|
0.00001
|
NM_000138.5(FBN1):c.994C>T (p.Arg332Cys)
|
rs1161109360
|
0.00001
|
NM_000138.5(FBN1):c.995G>A (p.Arg332His)
|
rs748929044
|
0.00001
|
NM_001032283.3(TMPO):c.108G>T (p.Val36=)
|
rs532884813
|
0.00001
|
NM_001032283.3(TMPO):c.133C>T (p.Leu45Phe)
|
rs1490105931
|
0.00001
|
NM_001032283.3(TMPO):c.154C>T (p.Pro52Ser)
|
rs767796798
|
0.00001
|
NM_001032283.3(TMPO):c.176G>C (p.Ser59Thr)
|
rs987636941
|
0.00001
|
NM_001032283.3(TMPO):c.183G>A (p.Gly61=)
|
rs780119963
|
0.00001
|
NM_001032283.3(TMPO):c.219C>G (p.Pro73=)
|
rs1464689689
|
0.00001
|
NM_001032283.3(TMPO):c.228C>T (p.Val76=)
|
rs760772599
|
0.00001
|
NM_001032283.3(TMPO):c.238G>A (p.Gly80Arg)
|
rs780142223
|
0.00001
|
NM_001032283.3(TMPO):c.263G>A (p.Arg88Gln)
|
rs774853700
|
0.00001
|
NM_001032283.3(TMPO):c.279+11G>C
|
rs772520813
|
0.00001
|
NM_001032283.3(TMPO):c.289A>G (p.Lys97Glu)
|
rs778356103
|
0.00001
|
NM_001032283.3(TMPO):c.296C>G (p.Thr99Ser)
|
rs529351559
|
0.00001
|
NM_001032283.3(TMPO):c.328C>T (p.Leu110=)
|
rs1302280025
|
0.00001
|
NM_001032283.3(TMPO):c.382G>A (p.Gly128Arg)
|
rs200943582
|
0.00001
|
NM_001032283.3(TMPO):c.392C>G (p.Pro131Arg)
|
rs1001615865
|
0.00001
|
NM_001032283.3(TMPO):c.476C>T (p.Ser159Phe)
|
rs183244086
|
0.00001
|
NM_001032283.3(TMPO):c.517A>G (p.Arg173Gly)
|
rs1430201856
|
0.00001
|
NM_001032283.3(TMPO):c.557A>G (p.Asn186Ser)
|
rs200923649
|
0.00001
|
NM_001032283.3(TMPO):c.565+1053A>G
|
rs769778970
|
0.00001
|
NM_001032283.3(TMPO):c.565+1084T>A
|
rs767247716
|
0.00001
|
NM_001032283.3(TMPO):c.565+1103C>T
|
rs188308994
|
0.00001
|
NM_001032283.3(TMPO):c.565+1104A>C
|
rs764732034
|
0.00001
|
NM_001032283.3(TMPO):c.565+1128G>A
|
rs770791830
|
0.00001
|
NM_001032283.3(TMPO):c.565+1137G>A
|
rs375903462
|
0.00001
|
NM_001032283.3(TMPO):c.565+1155A>G
|
rs1235766643
|
0.00001
|
NM_001032283.3(TMPO):c.565+1165G>C
|
rs191275106
|
0.00001
|
NM_001032283.3(TMPO):c.565+1183C>T
|
rs762263378
|
0.00001
|
NM_001032283.3(TMPO):c.565+1275A>G
|
rs763320036
|
0.00001
|
NM_001032283.3(TMPO):c.565+1282T>C
|
rs886049912
|
0.00001
|
NM_001032283.3(TMPO):c.565+1297C>T
|
rs560525921
|
0.00001
|
NM_001032283.3(TMPO):c.565+1305T>G
|
rs201730568
|
0.00001
|
NM_001032283.3(TMPO):c.565+1318A>G
|
rs754640974
|
0.00001
|
NM_001032283.3(TMPO):c.565+1327T>C
|
rs1325196944
|
0.00001
|
NM_001032283.3(TMPO):c.565+1346T>G
|
rs774747367
|
0.00001
|
NM_001032283.3(TMPO):c.565+1384A>G
|
rs766401550
|
0.00001
|
NM_001032283.3(TMPO):c.565+1390A>G
|
rs780719278
|
0.00001
|
NM_001032283.3(TMPO):c.565+1409C>T
|
rs371441559
|
0.00001
|
NM_001032283.3(TMPO):c.565+1468A>G
|
rs202106275
|
0.00001
|
NM_001032283.3(TMPO):c.565+1471C>T
|
rs779303657
|
0.00001
|
NM_001032283.3(TMPO):c.565+1485A>G
|
rs730880229
|
0.00001
|
NM_001032283.3(TMPO):c.565+1499A>G
|
rs776923796
|
0.00001
|
NM_001032283.3(TMPO):c.565+1532G>A
|
rs1336852045
|
0.00001
|
NM_001032283.3(TMPO):c.565+1559T>C
|
rs760459470
|
0.00001
|
NM_001032283.3(TMPO):c.565+1567C>T
|
rs202166461
|
0.00001
|
NM_001032283.3(TMPO):c.565+1576T>C
|
rs747232440
|
0.00001
|
NM_001032283.3(TMPO):c.565+1623C>G
|
rs902009254
|
0.00001
|
NM_001032283.3(TMPO):c.565+1626C>G
|
rs1555203864
|
0.00001
|
NM_001032283.3(TMPO):c.565+1648A>G
|
rs1057524856
|
0.00001
|
NM_001032283.3(TMPO):c.565+1654T>C
|
rs753527126
|
0.00001
|
NM_001032283.3(TMPO):c.565+1662T>G
|
rs200367787
|
0.00001
|
NM_001032283.3(TMPO):c.565+1805A>C
|
rs767027388
|
0.00001
|
NM_001032283.3(TMPO):c.565+1809G>A
|
rs1450805694
|
0.00001
|
NM_001032283.3(TMPO):c.565+1907A>G
|
rs372248802
|
0.00001
|
NM_001032283.3(TMPO):c.565+1911A>G
|
rs754188509
|
0.00001
|
NM_001032283.3(TMPO):c.565+1949C>G
|
rs750502531
|
0.00001
|
NM_001032283.3(TMPO):c.565+1968G>A
|
rs1051007448
|
0.00001
|
NM_001032283.3(TMPO):c.565+1979T>C
|
rs777452560
|
0.00001
|
NM_001032283.3(TMPO):c.565+1997G>A
|
rs375056835
|
0.00001
|
NM_001032283.3(TMPO):c.565+2079C>T
|
rs144269053
|
0.00001
|
NM_001032283.3(TMPO):c.565+2081A>G
|
rs760171602
|
0.00001
|
NM_001032283.3(TMPO):c.565+2092C>A
|
rs563175204
|
0.00001
|
NM_001032283.3(TMPO):c.565+2236C>G
|
rs746645331
|
0.00001
|
NM_001032283.3(TMPO):c.565+2260C>T
|
rs367769644
|
0.00001
|
NM_001032283.3(TMPO):c.565+2273G>A
|
rs977042843
|
0.00001
|
NM_001032283.3(TMPO):c.565+2331A>G
|
rs1319585944
|
0.00001
|
NM_001032283.3(TMPO):c.565+2347T>C
|
rs1450811229
|
0.00001
|
NM_001032283.3(TMPO):c.565+2367C>T
|
rs772424658
|
0.00001
|
NM_001032283.3(TMPO):c.565+2399T>A
|
rs576517565
|
0.00001
|
NM_001032283.3(TMPO):c.565+2409T>G
|
rs759247844
|
0.00001
|
NM_001032283.3(TMPO):c.565+2431C>G
|
rs1435432542
|
0.00001
|
NM_001032283.3(TMPO):c.565+2488G>A
|
rs779219922
|
0.00001
|
NM_001032283.3(TMPO):c.565+8T>C
|
rs545742855
|
0.00001
|
NM_001032283.3(TMPO):c.565+999C>T
|
rs138259721
|
0.00001
|
NM_001032283.3(TMPO):c.72T>C (p.Asn24=)
|
rs201960762
|
0.00001
|
NM_001032283.3(TMPO):c.81G>T (p.Leu27=)
|
rs549257131
|
0.00001
|
NM_001032283.3(TMPO):c.84G>A (p.Pro28=)
|
rs199549942
|
0.00001
|
NM_001999.4(FBN2):c.*1239A>G
|
rs765057642
|
0.00001
|
NM_001999.4(FBN2):c.*1315C>G
|
rs886059883
|
0.00001
|
NM_001999.4(FBN2):c.*244T>C
|
rs886059889
|
0.00001
|
NM_001999.4(FBN2):c.*745C>G
|
rs754492977
|
0.00001
|
NM_001999.4(FBN2):c.-147C>T
|
rs571337177
|
0.00001
|
NM_001999.4(FBN2):c.-219C>G
|
rs886059905
|
0.00001
|
NM_001999.4(FBN2):c.1011C>T (p.Thr337=)
|
rs781086796
|
0.00001
|
NM_001999.4(FBN2):c.1061A>G (p.Asp354Gly)
|
rs761066631
|
0.00001
|
NM_001999.4(FBN2):c.1070G>A (p.Arg357Gln)
|
rs773969876
|
0.00001
|
NM_001999.4(FBN2):c.1079-14T>G
|
rs754310681
|
0.00001
|
NM_001999.4(FBN2):c.1120C>T (p.Arg374Cys)
|
rs759013590
|
0.00001
|
NM_001999.4(FBN2):c.1143G>T (p.Gly381=)
|
rs749428195
|
0.00001
|
NM_001999.4(FBN2):c.1151C>T (p.Thr384Met)
|
rs371826887
|
0.00001
|
NM_001999.4(FBN2):c.1157T>C (p.Met386Thr)
|
rs750949734
|
0.00001
|
NM_001999.4(FBN2):c.115C>G (p.Arg39Gly)
|
rs763202121
|
0.00001
|
NM_001999.4(FBN2):c.1240C>T (p.Arg414Cys)
|
rs1382726763
|
0.00001
|
NM_001999.4(FBN2):c.1260A>C (p.Gly420=)
|
rs766241911
|
0.00001
|
NM_001999.4(FBN2):c.126G>A (p.Pro42=)
|
rs771657289
|
0.00001
|
NM_001999.4(FBN2):c.1286G>T (p.Ser429Ile)
|
rs749969520
|
0.00001
|
NM_001999.4(FBN2):c.1336G>A (p.Gly446Ser)
|
rs1173562709
|
0.00001
|
NM_001999.4(FBN2):c.1338C>G (p.Gly446=)
|
rs1060504933
|
0.00001
|
NM_001999.4(FBN2):c.1391G>A (p.Gly464Asp)
|
rs748584140
|
0.00001
|
NM_001999.4(FBN2):c.1418G>A (p.Gly473Glu)
|
rs376096770
|
0.00001
|
NM_001999.4(FBN2):c.1431G>A (p.Gly477=)
|
rs759633050
|
0.00001
|
NM_001999.4(FBN2):c.1480A>T (p.Thr494Ser)
|
rs200850552
|
0.00001
|
NM_001999.4(FBN2):c.14G>A (p.Arg5Gln)
|
rs1194684025
|
0.00001
|
NM_001999.4(FBN2):c.1502A>C (p.His501Pro)
|
rs773361111
|
0.00001
|
NM_001999.4(FBN2):c.1571G>T (p.Gly524Val)
|
rs753734866
|
0.00001
|
NM_001999.4(FBN2):c.1603+7T>C
|
rs1477450908
|
0.00001
|
NM_001999.4(FBN2):c.1610A>G (p.Asp537Gly)
|
rs565227443
|
0.00001
|
NM_001999.4(FBN2):c.1616G>A (p.Cys539Tyr)
|
rs1456682417
|
0.00001
|
NM_001999.4(FBN2):c.1671T>C (p.Tyr557=)
|
rs1487989552
|
0.00001
|
NM_001999.4(FBN2):c.1716A>G (p.Ala572=)
|
rs771782180
|
0.00001
|
NM_001999.4(FBN2):c.1724-6T>C
|
rs1259657269
|
0.00001
|
NM_001999.4(FBN2):c.1724-7T>G
|
rs1490528227
|
0.00001
|
NM_001999.4(FBN2):c.1765G>A (p.Gly589Ser)
|
rs1057523294
|
0.00001
|
NM_001999.4(FBN2):c.1774G>T (p.Val592Leu)
|
rs762427107
|
0.00001
|
NM_001999.4(FBN2):c.1776G>A (p.Val592=)
|
rs775492838
|
0.00001
|
NM_001999.4(FBN2):c.1812C>T (p.Ala604=)
|
rs745811885
|
0.00001
|
NM_001999.4(FBN2):c.1813G>A (p.Gly605Ser)
|
rs863223553
|
0.00001
|
NM_001999.4(FBN2):c.1821A>G (p.Glu607=)
|
rs776515245
|
0.00001
|
NM_001999.4(FBN2):c.1842C>T (p.Asn614=)
|
rs968593645
|
0.00001
|
NM_001999.4(FBN2):c.1866A>G (p.Thr622=)
|
rs1060504934
|
0.00001
|
NM_001999.4(FBN2):c.1884G>A (p.Leu628=)
|
rs1237327921
|
0.00001
|
NM_001999.4(FBN2):c.1902T>C (p.Asn634=)
|
rs553052214
|
0.00001
|
NM_001999.4(FBN2):c.1903G>A (p.Glu635Lys)
|
rs138963610
|
0.00001
|
NM_001999.4(FBN2):c.2013G>A (p.Gly671=)
|
rs778762668
|
0.00001
|
NM_001999.4(FBN2):c.2041C>T (p.Arg681Cys)
|
rs750406193
|
0.00001
|
NM_001999.4(FBN2):c.2042G>A (p.Arg681His)
|
rs548605398
|
0.00001
|
NM_001999.4(FBN2):c.2043C>T (p.Arg681=)
|
rs1476851135
|
0.00001
|
NM_001999.4(FBN2):c.2083C>T (p.Arg695Cys)
|
rs747447916
|
0.00001
|
NM_001999.4(FBN2):c.2084G>A (p.Arg695His)
|
rs143722436
|
0.00001
|
NM_001999.4(FBN2):c.2096-13del
|
rs746826953
|
0.00001
|
NM_001999.4(FBN2):c.2099C>T (p.Thr700Ile)
|
rs773667668
|
0.00001
|
NM_001999.4(FBN2):c.2160C>T (p.Pro720=)
|
rs889188442
|
0.00001
|
NM_001999.4(FBN2):c.2202C>T (p.Asp734=)
|
rs1057470455
|
0.00001
|
NM_001999.4(FBN2):c.220G>A (p.Val74Ile)
|
rs779812100
|
0.00001
|
NM_001999.4(FBN2):c.2259C>T (p.His753=)
|
rs1751768248
|
0.00001
|
NM_001999.4(FBN2):c.2271T>C (p.Ser757=)
|
rs1338036259
|
0.00001
|
NM_001999.4(FBN2):c.2283T>C (p.Gly761=)
|
rs1235214641
|
0.00001
|
NM_001999.4(FBN2):c.2294A>G (p.Asp765Gly)
|
rs1485036763
|
0.00001
|
NM_001999.4(FBN2):c.230G>T (p.Arg77Leu)
|
rs889066564
|
0.00001
|
NM_001999.4(FBN2):c.2375G>A (p.Arg792His)
|
rs374031658
|
0.00001
|
NM_001999.4(FBN2):c.2428+9T>C
|
rs368374358
|
0.00001
|
NM_001999.4(FBN2):c.2429-11G>A
|
rs201849584
|
0.00001
|
NM_001999.4(FBN2):c.2487G>T (p.Thr829=)
|
rs779455710
|
0.00001
|
NM_001999.4(FBN2):c.2489C>T (p.Pro830Leu)
|
rs547769591
|
0.00001
|
NM_001999.4(FBN2):c.2511C>T (p.Cys837=)
|
rs756813212
|
0.00001
|
NM_001999.4(FBN2):c.2522A>G (p.Tyr841Cys)
|
rs762606715
|
0.00001
|
NM_001999.4(FBN2):c.2554+18C>T
|
rs778973357
|
0.00001
|
NM_001999.4(FBN2):c.2554+19G>A
|
rs199897237
|
0.00001
|
NM_001999.4(FBN2):c.2565A>C (p.Glu855Asp)
|
rs1751527556
|
0.00001
|
NM_001999.4(FBN2):c.257C>G (p.Pro86Arg)
|
rs749819006
|
0.00001
|
NM_001999.4(FBN2):c.258C>T (p.Pro86=)
|
rs780509984
|
0.00001
|
NM_001999.4(FBN2):c.2661A>G (p.Gly887=)
|
rs774598529
|
0.00001
|
NM_001999.4(FBN2):c.2675-8C>G
|
rs1451128883
|
0.00001
|
NM_001999.4(FBN2):c.2675A>G (p.Asp892Gly)
|
rs863223558
|
0.00001
|
NM_001999.4(FBN2):c.2715C>T (p.Ser905=)
|
rs998086640
|
0.00001
|
NM_001999.4(FBN2):c.2716C>T (p.Arg906Cys)
|
rs763094104
|
0.00001
|
NM_001999.4(FBN2):c.2731A>G (p.Ile911Val)
|
rs368766120
|
0.00001
|
NM_001999.4(FBN2):c.2740G>A (p.Ala914Thr)
|
rs370312107
|
0.00001
|
NM_001999.4(FBN2):c.2777C>A (p.Ala926Asp)
|
rs138429045
|
0.00001
|
NM_001999.4(FBN2):c.2813-12T>C
|
rs1395669341
|
0.00001
|
NM_001999.4(FBN2):c.2855C>T (p.Thr952Met)
|
rs766590294
|
0.00001
|
NM_001999.4(FBN2):c.2863+3G>A
|
rs762144935
|
0.00001
|
NM_001999.4(FBN2):c.2864-12A>G
|
rs1234935460
|
0.00001
|
NM_001999.4(FBN2):c.2874G>A (p.Glu958=)
|
rs765859878
|
0.00001
|
NM_001999.4(FBN2):c.294C>T (p.Cys98=)
|
rs765214316
|
0.00001
|
NM_001999.4(FBN2):c.2989+18A>T
|
rs769856454
|
0.00001
|
NM_001999.4(FBN2):c.2990-13G>A
|
rs375326505
|
0.00001
|
NM_001999.4(FBN2):c.29A>G (p.Gln10Arg)
|
rs547410742
|
0.00001
|
NM_001999.4(FBN2):c.3046G>A (p.Val1016Ile)
|
rs773235785
|
0.00001
|
NM_001999.4(FBN2):c.3054A>G (p.Gly1018=)
|
rs1255532545
|
0.00001
|
NM_001999.4(FBN2):c.3106G>A (p.Glu1036Lys)
|
rs773473369
|
0.00001
|
NM_001999.4(FBN2):c.3114G>C (p.Glu1038Asp)
|
rs199938409
|
0.00001
|
NM_001999.4(FBN2):c.3145G>A (p.Glu1049Lys)
|
rs771853346
|
0.00001
|
NM_001999.4(FBN2):c.3209T>A (p.Phe1070Tyr)
|
rs139118782
|
0.00001
|
NM_001999.4(FBN2):c.3253A>C (p.Thr1085Pro)
|
rs863223562
|
0.00001
|
NM_001999.4(FBN2):c.3277A>G (p.Ile1093Val)
|
rs747248488
|
0.00001
|
NM_001999.4(FBN2):c.3280G>A (p.Gly1094Arg)
|
rs758659538
|
0.00001
|
NM_001999.4(FBN2):c.3290A>C (p.Lys1097Thr)
|
rs765437414
|
0.00001
|
NM_001999.4(FBN2):c.3304A>G (p.Ser1102Gly)
|
rs761012607
|
0.00001
|
NM_001999.4(FBN2):c.3401C>T (p.Thr1134Ile)
|
rs863223602
|
0.00001
|
NM_001999.4(FBN2):c.3420C>T (p.Cys1140=)
|
rs756541654
|
0.00001
|
NM_001999.4(FBN2):c.3430G>A (p.Glu1144Lys)
|
rs200060005
|
0.00001
|
NM_001999.4(FBN2):c.3483A>G (p.Glu1161=)
|
rs761867143
|
0.00001
|
NM_001999.4(FBN2):c.3495C>A (p.Asn1165Lys)
|
rs774250442
|
0.00001
|
NM_001999.4(FBN2):c.3514G>A (p.Gly1172Ser)
|
rs138303817
|
0.00001
|
NM_001999.4(FBN2):c.3521G>A (p.Cys1174Tyr)
|
rs1581226080
|
0.00001
|
NM_001999.4(FBN2):c.3534G>C (p.Glu1178Asp)
|
rs771385579
|
0.00001
|
NM_001999.4(FBN2):c.3559C>A (p.Leu1187Met)
|
rs375710546
|
0.00001
|
NM_001999.4(FBN2):c.3563G>A (p.Gly1188Glu)
|
rs748888503
|
0.00001
|
NM_001999.4(FBN2):c.3565C>T (p.His1189Tyr)
|
rs779690646
|
0.00001
|
NM_001999.4(FBN2):c.3567C>T (p.His1189=)
|
rs945523399
|
0.00001
|
NM_001999.4(FBN2):c.3568G>A (p.Glu1190Lys)
|
rs755737169
|
0.00001
|
NM_001999.4(FBN2):c.3577C>T (p.Pro1193Ser)
|
rs749905043
|
0.00001
|
NM_001999.4(FBN2):c.3581C>T (p.Ser1194Phe)
|
rs914081385
|
0.00001
|
NM_001999.4(FBN2):c.3583C>T (p.Arg1195Cys)
|
rs757232992
|
0.00001
|
NM_001999.4(FBN2):c.3609A>G (p.Glu1203=)
|
rs941219425
|
0.00001
|
NM_001999.4(FBN2):c.3614C>T (p.Ser1205Phe)
|
rs1389689622
|
0.00001
|
NM_001999.4(FBN2):c.3630C>G (p.Leu1210=)
|
rs764902856
|
0.00001
|
NM_001999.4(FBN2):c.3660T>G (p.Ile1220Met)
|
rs558632824
|
0.00001
|
NM_001999.4(FBN2):c.3675C>T (p.Cys1225=)
|
rs141485941
|
0.00001
|
NM_001999.4(FBN2):c.3724+11A>G
|
rs886059900
|
0.00001
|
NM_001999.4(FBN2):c.3750C>T (p.Asn1250=)
|
rs750559514
|
0.00001
|
NM_001999.4(FBN2):c.3751G>A (p.Gly1251Arg)
|
rs1018550681
|
0.00001
|
NM_001999.4(FBN2):c.37T>C (p.Phe13Leu)
|
rs957639025
|
0.00001
|
NM_001999.4(FBN2):c.3877A>T (p.Ile1293Phe)
|
rs1263059454
|
0.00001
|
NM_001999.4(FBN2):c.3889G>A (p.Gly1297Ser)
|
rs755489065
|
0.00001
|
NM_001999.4(FBN2):c.3919C>T (p.Arg1307Cys)
|
rs922751471
|
0.00001
|
NM_001999.4(FBN2):c.3925C>T (p.Leu1309Phe)
|
rs763595235
|
0.00001
|
NM_001999.4(FBN2):c.3932A>G (p.Tyr1311Cys)
|
rs762514246
|
0.00001
|
NM_001999.4(FBN2):c.3971T>C (p.Ile1324Thr)
|
rs150872093
|
0.00001
|
NM_001999.4(FBN2):c.3984A>G (p.Glu1328=)
|
rs1394998823
|
0.00001
|
NM_001999.4(FBN2):c.4011G>A (p.Met1337Ile)
|
rs1231103337
|
0.00001
|
NM_001999.4(FBN2):c.4052A>G (p.His1351Arg)
|
rs1039821634
|
0.00001
|
NM_001999.4(FBN2):c.4096A>G (p.Thr1366Ala)
|
rs768722316
|
0.00001
|
NM_001999.4(FBN2):c.4124C>T (p.Ala1375Val)
|
rs768753485
|
0.00001
|
NM_001999.4(FBN2):c.4134C>T (p.Cys1378=)
|
rs775405425
|
0.00001
|
NM_001999.4(FBN2):c.413C>T (p.Ser138Leu)
|
rs149305476
|
0.00001
|
NM_001999.4(FBN2):c.4208G>A (p.Gly1403Asp)
|
rs750327890
|
0.00001
|
NM_001999.4(FBN2):c.4258A>G (p.Ser1420Gly)
|
rs1407868144
|
0.00001
|
NM_001999.4(FBN2):c.4283C>A (p.Thr1428Asn)
|
rs367961012
|
0.00001
|
NM_001999.4(FBN2):c.4287G>A (p.Pro1429=)
|
rs761049150
|
0.00001
|
NM_001999.4(FBN2):c.4296C>T (p.Tyr1432=)
|
rs147046215
|
0.00001
|
NM_001999.4(FBN2):c.42G>T (p.Leu14=)
|
rs376407285
|
0.00001
|
NM_001999.4(FBN2):c.432A>G (p.Lys144=)
|
rs201247200
|
0.00001
|
NM_001999.4(FBN2):c.4346-6G>T
|
rs755217606
|
0.00001
|
NM_001999.4(FBN2):c.4352A>G (p.Asp1451Gly)
|
rs766483687
|
0.00001
|
NM_001999.4(FBN2):c.4402G>A (p.Val1468Ile)
|
rs199668238
|
0.00001
|
NM_001999.4(FBN2):c.4402G>T (p.Val1468Phe)
|
rs199668238
|
0.00001
|
NM_001999.4(FBN2):c.4406C>T (p.Pro1469Leu)
|
rs770606176
|
0.00001
|
NM_001999.4(FBN2):c.4407G>A (p.Pro1469=)
|
rs546172367
|
0.00001
|
NM_001999.4(FBN2):c.4419C>T (p.Arg1473=)
|
rs1750619535
|
0.00001
|
NM_001999.4(FBN2):c.4422C>T (p.Cys1474=)
|
rs371629482
|
0.00001
|
NM_001999.4(FBN2):c.4453G>A (p.Asp1485Asn)
|
rs187786356
|
0.00001
|
NM_001999.4(FBN2):c.4515A>G (p.Thr1505=)
|
rs751938197
|
0.00001
|
NM_001999.4(FBN2):c.4585A>G (p.Asn1529Asp)
|
rs1085307489
|
0.00001
|
NM_001999.4(FBN2):c.4595-19T>C
|
rs201459526
|
0.00001
|
NM_001999.4(FBN2):c.4608T>C (p.Cys1536=)
|
rs1176811808
|
0.00001
|
NM_001999.4(FBN2):c.460A>G (p.Met154Val)
|
rs878854475
|
0.00001
|
NM_001999.4(FBN2):c.4690T>C (p.Leu1564=)
|
rs886038504
|
0.00001
|
NM_001999.4(FBN2):c.4708G>T (p.Gly1570Cys)
|
rs1554121027
|
0.00001
|
NM_001999.4(FBN2):c.472A>T (p.Thr158Ser)
|
rs886059904
|
0.00001
|
NM_001999.4(FBN2):c.4751G>T (p.Gly1584Val)
|
rs770269667
|
0.00001
|
NM_001999.4(FBN2):c.477T>C (p.Cys159=)
|
rs138601900
|
0.00001
|
NM_001999.4(FBN2):c.4808G>A (p.Arg1603His)
|
rs751661259
|
0.00001
|
NM_001999.4(FBN2):c.4864C>A (p.Pro1622Thr)
|
rs750116860
|
0.00001
|
NM_001999.4(FBN2):c.4867C>G (p.Pro1623Ala)
|
rs139830237
|
0.00001
|
NM_001999.4(FBN2):c.4879+7A>G
|
rs555328744
|
0.00001
|
NM_001999.4(FBN2):c.488A>G (p.His163Arg)
|
rs1029299660
|
0.00001
|
NM_001999.4(FBN2):c.4890C>T (p.Tyr1630=)
|
rs1488160637
|
0.00001
|
NM_001999.4(FBN2):c.4949-5T>C
|
rs1264068007
|
0.00001
|
NM_001999.4(FBN2):c.5015G>A (p.Ser1672Asn)
|
rs1018411631
|
0.00001
|
NM_001999.4(FBN2):c.5063G>A (p.Arg1688His)
|
rs770803581
|
0.00001
|
NM_001999.4(FBN2):c.5074+5G>A
|
rs374651068
|
0.00001
|
NM_001999.4(FBN2):c.5074+7T>C
|
rs201951284
|
0.00001
|
NM_001999.4(FBN2):c.5075-4C>G
|
rs779999668
|
0.00001
|
NM_001999.4(FBN2):c.5120C>T (p.Thr1707Ile)
|
rs572030603
|
0.00001
|
NM_001999.4(FBN2):c.5174A>T (p.Gln1725Leu)
|
rs1402545685
|
0.00001
|
NM_001999.4(FBN2):c.5201-3T>C
|
rs1057521162
|
0.00001
|
NM_001999.4(FBN2):c.5224C>T (p.Arg1742Ter)
|
rs1178371653
|
0.00001
|
NM_001999.4(FBN2):c.5225G>A (p.Arg1742Gln)
|
rs774411234
|
0.00001
|
NM_001999.4(FBN2):c.522T>C (p.Tyr174=)
|
rs573915338
|
0.00001
|
NM_001999.4(FBN2):c.5267A>G (p.Asn1756Ser)
|
rs760065931
|
0.00001
|
NM_001999.4(FBN2):c.5295A>C (p.Thr1765=)
|
rs941916367
|
0.00001
|
NM_001999.4(FBN2):c.52T>A (p.Cys18Ser)
|
rs1033004512
|
0.00001
|
NM_001999.4(FBN2):c.5303T>C (p.Val1768Ala)
|
rs779202876
|
0.00001
|
NM_001999.4(FBN2):c.533-4G>T
|
rs372596001
|
0.00001
|
NM_001999.4(FBN2):c.5353+20A>G
|
rs759401474
|
0.00001
|
NM_001999.4(FBN2):c.5354-14T>C
|
rs756825167
|
0.00001
|
NM_001999.4(FBN2):c.5426T>C (p.Ile1809Thr)
|
rs766034866
|
0.00001
|
NM_001999.4(FBN2):c.5427T>C (p.Ile1809=)
|
rs756365546
|
0.00001
|
NM_001999.4(FBN2):c.5487C>T (p.Gly1829=)
|
rs375136629
|
0.00001
|
NM_001999.4(FBN2):c.5539G>C (p.Val1847Leu)
|
rs863223610
|
0.00001
|
NM_001999.4(FBN2):c.5549-8T>A
|
rs1339062362
|
0.00001
|
NM_001999.4(FBN2):c.5587C>T (p.Arg1863Trp)
|
rs1192632165
|
0.00001
|
NM_001999.4(FBN2):c.559G>A (p.Gly187Ser)
|
rs773732645
|
0.00001
|
NM_001999.4(FBN2):c.5639C>T (p.Ala1880Val)
|
rs779567163
|
0.00001
|
NM_001999.4(FBN2):c.5660A>G (p.Asn1887Ser)
|
rs745759959
|
0.00001
|
NM_001999.4(FBN2):c.5682T>C (p.Asn1894=)
|
rs991908659
|
0.00001
|
NM_001999.4(FBN2):c.5692G>A (p.Glu1898Lys)
|
rs767932789
|
0.00001
|
NM_001999.4(FBN2):c.5701A>G (p.Asn1901Asp)
|
rs1010422106
|
0.00001
|
NM_001999.4(FBN2):c.5710A>C (p.Ser1904Arg)
|
rs1581202795
|
0.00001
|
NM_001999.4(FBN2):c.5731C>T (p.Leu1911=)
|
rs768733086
|
0.00001
|
NM_001999.4(FBN2):c.573C>T (p.Ile191=)
|
rs370698125
|
0.00001
|
NM_001999.4(FBN2):c.574G>A (p.Gly192Arg)
|
rs376398925
|
0.00001
|
NM_001999.4(FBN2):c.5800+10G>A
|
rs546373462
|
0.00001
|
NM_001999.4(FBN2):c.5801A>G (p.Asp1934Gly)
|
rs1554119542
|
0.00001
|
NM_001999.4(FBN2):c.5834A>G (p.Asn1945Ser)
|
rs863223578
|
0.00001
|
NM_001999.4(FBN2):c.5899C>T (p.His1967Tyr)
|
rs369652475
|
0.00001
|
NM_001999.4(FBN2):c.5900A>G (p.His1967Arg)
|
rs1314671452
|
0.00001
|
NM_001999.4(FBN2):c.5918-4A>G
|
rs1382347293
|
0.00001
|
NM_001999.4(FBN2):c.5918-7C>G
|
rs750463932
|
0.00001
|
NM_001999.4(FBN2):c.5921T>C (p.Ile1974Thr)
|
rs1060503501
|
0.00001
|
NM_001999.4(FBN2):c.5965C>T (p.Arg1989Cys)
|
rs758369648
|
0.00001
|
NM_001999.4(FBN2):c.5974A>G (p.Asn1992Asp)
|
rs1437992406
|
0.00001
|
NM_001999.4(FBN2):c.6002G>A (p.Cys2001Tyr)
|
rs878854476
|
0.00001
|
NM_001999.4(FBN2):c.6027A>G (p.Pro2009=)
|
rs147474868
|
0.00001
|
NM_001999.4(FBN2):c.6033C>G (p.Gly2011=)
|
rs749647897
|
0.00001
|
NM_001999.4(FBN2):c.6074G>A (p.Gly2025Asp)
|
rs547583705
|
0.00001
|
NM_001999.4(FBN2):c.6093C>G (p.Thr2031=)
|
rs1131691293
|
0.00001
|
NM_001999.4(FBN2):c.6140A>G (p.Tyr2047Cys)
|
rs368453513
|
0.00001
|
NM_001999.4(FBN2):c.6148A>G (p.Lys2050Glu)
|
rs863223611
|
0.00001
|
NM_001999.4(FBN2):c.617A>T (p.Gln206Leu)
|
rs1207752455
|
0.00001
|
NM_001999.4(FBN2):c.61C>T (p.Leu21Phe)
|
rs201321678
|
0.00001
|
NM_001999.4(FBN2):c.6205T>C (p.Phe2069Leu)
|
rs1295335940
|
0.00001
|
NM_001999.4(FBN2):c.6292+7T>C
|
rs775471488
|
0.00001
|
NM_001999.4(FBN2):c.6298C>T (p.Arg2100Cys)
|
rs1425263303
|
0.00001
|
NM_001999.4(FBN2):c.6306C>T (p.Ser2102=)
|
rs374717631
|
0.00001
|
NM_001999.4(FBN2):c.6438C>T (p.Asp2146=)
|
rs772832233
|
0.00001
|
NM_001999.4(FBN2):c.6445+10A>G
|
rs774706397
|
0.00001
|
NM_001999.4(FBN2):c.6445+11T>C
|
rs766726816
|
0.00001
|
NM_001999.4(FBN2):c.6445G>A (p.Val2149Ile)
|
rs1394667470
|
0.00001
|
NM_001999.4(FBN2):c.6450A>T (p.Ala2150=)
|
rs1199375914
|
0.00001
|
NM_001999.4(FBN2):c.6477T>C (p.His2159=)
|
rs768972914
|
0.00001
|
NM_001999.4(FBN2):c.6511+7T>C
|
rs1201683263
|
0.00001
|
NM_001999.4(FBN2):c.6512-14G>A
|
rs765303543
|
0.00001
|
NM_001999.4(FBN2):c.6512-3T>C
|
rs764271022
|
0.00001
|
NM_001999.4(FBN2):c.6518A>G (p.Asn2173Ser)
|
rs143054385
|
0.00001
|
NM_001999.4(FBN2):c.6558A>G (p.Gln2186=)
|
rs757216544
|
0.00001
|
NM_001999.4(FBN2):c.6584G>A (p.Arg2195His)
|
rs144887443
|
0.00001
|
NM_001999.4(FBN2):c.6598A>G (p.Met2200Val)
|
rs766808076
|
0.00001
|
NM_001999.4(FBN2):c.6609C>A (p.Asn2203Lys)
|
rs761101580
|
0.00001
|
NM_001999.4(FBN2):c.6610C>G (p.Leu2204Val)
|
rs201541140
|
0.00001
|
NM_001999.4(FBN2):c.6611T>C (p.Leu2204Pro)
|
rs772480416
|
0.00001
|
NM_001999.4(FBN2):c.6629G>A (p.Arg2210His)
|
rs745396297
|
0.00001
|
NM_001999.4(FBN2):c.6637+18A>G
|
rs777841785
|
0.00001
|
NM_001999.4(FBN2):c.6658G>A (p.Gly2220Ser)
|
rs863223582
|
0.00001
|
NM_001999.4(FBN2):c.6665C>T (p.Pro2222Leu)
|
rs747908706
|
0.00001
|
NM_001999.4(FBN2):c.6669T>C (p.Cys2223=)
|
rs754724355
|
0.00001
|
NM_001999.4(FBN2):c.671T>C (p.Met224Thr)
|
rs886038798
|
0.00001
|
NM_001999.4(FBN2):c.6758-14A>G
|
rs757283004
|
0.00001
|
NM_001999.4(FBN2):c.6795T>C (p.Ala2265=)
|
rs753071532
|
0.00001
|
NM_001999.4(FBN2):c.6805A>G (p.Met2269Val)
|
rs943225631
|
0.00001
|
NM_001999.4(FBN2):c.680G>A (p.Gly227Glu)
|
rs760247833
|
0.00001
|
NM_001999.4(FBN2):c.681G>T (p.Gly227=)
|
rs772923075
|
0.00001
|
NM_001999.4(FBN2):c.6834G>A (p.Thr2278=)
|
rs374853253
|
0.00001
|
NM_001999.4(FBN2):c.6843T>G (p.Ile2281Met)
|
rs770011418
|
0.00001
|
NM_001999.4(FBN2):c.6881-8T>G
|
rs1355994517
|
0.00001
|
NM_001999.4(FBN2):c.6885G>A (p.Leu2295=)
|
rs754211806
|
0.00001
|
NM_001999.4(FBN2):c.6896C>T (p.Ala2299Val)
|
rs756798856
|
0.00001
|
NM_001999.4(FBN2):c.6919T>A (p.Ser2307Thr)
|
rs1208950525
|
0.00001
|
NM_001999.4(FBN2):c.6949G>A (p.Gly2317Ser)
|
rs863223613
|
0.00001
|
NM_001999.4(FBN2):c.6959T>C (p.Met2320Thr)
|
rs749681942
|
0.00001
|
NM_001999.4(FBN2):c.6960G>A (p.Met2320Ile)
|
rs780214155
|
0.00001
|
NM_001999.4(FBN2):c.6990G>A (p.Arg2330=)
|
rs28763928
|
0.00001
|
NM_001999.4(FBN2):c.6996T>C (p.Asp2332=)
|
rs753673393
|
0.00001
|
NM_001999.4(FBN2):c.7007G>A (p.Cys2336Tyr)
|
rs760494751
|
0.00001
|
NM_001999.4(FBN2):c.7013-18T>C
|
rs375140877
|
0.00001
|
NM_001999.4(FBN2):c.7057C>T (p.Arg2353Cys)
|
rs863223586
|
0.00001
|
NM_001999.4(FBN2):c.7058G>A (p.Arg2353His)
|
rs775905979
|
0.00001
|
NM_001999.4(FBN2):c.7145G>A (p.Arg2382Gln)
|
rs757161476
|
0.00001
|
NM_001999.4(FBN2):c.7174C>A (p.Gln2392Lys)
|
rs762730300
|
0.00001
|
NM_001999.4(FBN2):c.7202G>A (p.Ser2401Asn)
|
rs758124873
|
0.00001
|
NM_001999.4(FBN2):c.7256G>T (p.Gly2419Val)
|
rs762058983
|
0.00001
|
NM_001999.4(FBN2):c.7262A>G (p.Gln2421Arg)
|
rs764759689
|
0.00001
|
NM_001999.4(FBN2):c.7266C>T (p.Cys2422=)
|
rs776227906
|
0.00001
|
NM_001999.4(FBN2):c.7306A>C (p.Ile2436Leu)
|
rs755134019
|
0.00001
|
NM_001999.4(FBN2):c.7308A>T (p.Ile2436=)
|
rs1005611432
|
0.00001
|
NM_001999.4(FBN2):c.7317T>C (p.His2439=)
|
rs1554117089
|
0.00001
|
NM_001999.4(FBN2):c.7331C>T (p.Thr2444Ile)
|
rs201883128
|
0.00001
|
NM_001999.4(FBN2):c.7345+3A>G
|
rs776419198
|
0.00001
|
NM_001999.4(FBN2):c.734G>A (p.Arg245Gln)
|
rs747507457
|
0.00001
|
NM_001999.4(FBN2):c.7385A>G (p.Asn2462Ser)
|
rs576501460
|
0.00001
|
NM_001999.4(FBN2):c.7396A>G (p.Ile2466Val)
|
rs373370945
|
0.00001
|
NM_001999.4(FBN2):c.73G>A (p.Gly25Ser)
|
rs763408652
|
0.00001
|
NM_001999.4(FBN2):c.7405A>G (p.Met2469Val)
|
rs863223546
|
0.00001
|
NM_001999.4(FBN2):c.7471+5C>T
|
rs369559870
|
0.00001
|
NM_001999.4(FBN2):c.7472-14T>A
|
rs772646837
|
0.00001
|
NM_001999.4(FBN2):c.7472-17A>G
|
rs773888786
|
0.00001
|
NM_001999.4(FBN2):c.7524C>T (p.Asn2508=)
|
rs1765389228
|
0.00001
|
NM_001999.4(FBN2):c.7553C>T (p.Pro2518Leu)
|
rs776761421
|
0.00001
|
NM_001999.4(FBN2):c.7595-8A>G
|
rs878854479
|
0.00001
|
NM_001999.4(FBN2):c.7632G>T (p.Gln2544His)
|
rs1451291857
|
0.00001
|
NM_001999.4(FBN2):c.7654G>C (p.Gly2552Arg)
|
rs375790581
|
0.00001
|
NM_001999.4(FBN2):c.7655G>A (p.Gly2552Glu)
|
rs1473525001
|
0.00001
|
NM_001999.4(FBN2):c.7659G>A (p.Gly2553=)
|
rs763586091
|
0.00001
|
NM_001999.4(FBN2):c.7676C>T (p.Pro2559Leu)
|
rs770193908
|
0.00001
|
NM_001999.4(FBN2):c.767C>T (p.Ala256Val)
|
rs1345155944
|
0.00001
|
NM_001999.4(FBN2):c.7720G>A (p.Glu2574Lys)
|
rs377689621
|
0.00001
|
NM_001999.4(FBN2):c.7740G>A (p.Ser2580=)
|
rs942206547
|
0.00001
|
NM_001999.4(FBN2):c.7741C>T (p.Leu2581Phe)
|
rs146316163
|
0.00001
|
NM_001999.4(FBN2):c.7767A>G (p.Gln2589=)
|
rs777828326
|
0.00001
|
NM_001999.4(FBN2):c.778C>G (p.Pro260Ala)
|
rs774323549
|
0.00001
|
NM_001999.4(FBN2):c.787C>T (p.Arg263Trp)
|
rs151329128
|
0.00001
|
NM_001999.4(FBN2):c.7886A>G (p.Gln2629Arg)
|
rs768750542
|
0.00001
|
NM_001999.4(FBN2):c.791G>A (p.Gly264Asp)
|
rs746046058
|
0.00001
|
NM_001999.4(FBN2):c.7960+20A>G
|
rs761551216
|
0.00001
|
NM_001999.4(FBN2):c.7960+5G>A
|
rs863223590
|
0.00001
|
NM_001999.4(FBN2):c.7961-11C>T
|
rs751924753
|
0.00001
|
NM_001999.4(FBN2):c.7985A>G (p.Asn2662Ser)
|
rs765867245
|
0.00001
|
NM_001999.4(FBN2):c.7987G>A (p.Ala2663Thr)
|
rs1245151549
|
0.00001
|
NM_001999.4(FBN2):c.798C>G (p.Ile266Met)
|
rs1754660877
|
0.00001
|
NM_001999.4(FBN2):c.8045C>T (p.Ser2682Leu)
|
rs370250073
|
0.00001
|
NM_001999.4(FBN2):c.8099C>T (p.Ser2700Leu)
|
rs776788539
|
0.00001
|
NM_001999.4(FBN2):c.8125G>A (p.Gly2709Ser)
|
rs145809527
|
0.00001
|
NM_001999.4(FBN2):c.8193-7C>G
|
rs754837805
|
0.00001
|
NM_001999.4(FBN2):c.8196C>T (p.His2732=)
|
rs780426123
|
0.00001
|
NM_001999.4(FBN2):c.8254G>A (p.Asp2752Asn)
|
rs529742815
|
0.00001
|
NM_001999.4(FBN2):c.827-19A>G
|
rs199559284
|
0.00001
|
NM_001999.4(FBN2):c.82G>T (p.Gly28Cys)
|
rs772841538
|
0.00001
|
NM_001999.4(FBN2):c.8302A>C (p.Asn2768His)
|
rs1262933234
|
0.00001
|
NM_001999.4(FBN2):c.8325C>T (p.Ser2775=)
|
rs368712261
|
0.00001
|
NM_001999.4(FBN2):c.8344C>T (p.His2782Tyr)
|
rs745600341
|
0.00001
|
NM_001999.4(FBN2):c.8365-5T>C
|
rs1237152538
|
0.00001
|
NM_001999.4(FBN2):c.8365-7C>A
|
rs1185451078
|
0.00001
|
NM_001999.4(FBN2):c.8413A>G (p.Met2805Val)
|
rs776610785
|
0.00001
|
NM_001999.4(FBN2):c.8417A>T (p.Lys2806Met)
|
rs565816741
|
0.00001
|
NM_001999.4(FBN2):c.8423A>G (p.Asn2808Ser)
|
rs772227931
|
0.00001
|
NM_001999.4(FBN2):c.8426T>C (p.Leu2809Pro)
|
rs863223591
|
0.00001
|
NM_001999.4(FBN2):c.8437G>A (p.Gly2813Ser)
|
rs199808954
|
0.00001
|
NM_001999.4(FBN2):c.8458G>A (p.Glu2820Lys)
|
rs752384882
|
0.00001
|
NM_001999.4(FBN2):c.8513A>G (p.Gln2838Arg)
|
rs772928933
|
0.00001
|
NM_001999.4(FBN2):c.8574G>A (p.Thr2858=)
|
rs573245869
|
0.00001
|
NM_001999.4(FBN2):c.8601A>G (p.Thr2867=)
|
rs542824837
|
0.00001
|
NM_001999.4(FBN2):c.8668A>G (p.Asn2890Asp)
|
rs888064842
|
0.00001
|
NM_001999.4(FBN2):c.8675A>G (p.Asp2892Gly)
|
rs768293070
|
0.00001
|
NM_001999.4(FBN2):c.8681A>C (p.Tyr2894Ser)
|
rs779659640
|
0.00001
|
NM_001999.4(FBN2):c.86A>C (p.Gln29Pro)
|
rs771712321
|
0.00001
|
NM_001999.4(FBN2):c.8705C>A (p.Ala2902Asp)
|
rs757052151
|
0.00001
|
NM_001999.4(FBN2):c.885A>G (p.Thr295=)
|
rs989219711
|
0.00001
|
NM_001999.4(FBN2):c.893C>G (p.Ser298Cys)
|
rs577855501
|
0.00001
|
NM_001999.4(FBN2):c.951A>G (p.Glu317=)
|
rs1326391832
|
0.00001
|
NM_001999.4(FBN2):c.953-3T>A
|
rs1020574940
|
0.00001
|
NM_001999.4(FBN2):c.953-9C>T
|
rs1181205032
|
0.00001
|
NM_003036.4(SKI):c.1005A>G (p.Lys335=)
|
rs1057524639
|
0.00001
|
NM_003036.4(SKI):c.1006A>G (p.Thr336Ala)
|
rs1347876005
|
0.00001
|
NM_003036.4(SKI):c.1070G>A (p.Arg357Gln)
|
rs200874294
|
0.00001
|
NM_003036.4(SKI):c.1117C>T (p.Arg373Cys)
|
rs749507746
|
0.00001
|
NM_003036.4(SKI):c.1152C>T (p.Pro384=)
|
rs200160702
|
0.00001
|
NM_003036.4(SKI):c.116C>T (p.Ser39Leu)
|
rs746485528
|
0.00001
|
NM_003036.4(SKI):c.1188C>T (p.His396=)
|
rs998931386
|
0.00001
|
NM_003036.4(SKI):c.1193C>T (p.Pro398Leu)
|
rs776248526
|
0.00001
|
NM_003036.4(SKI):c.1212-13C>G
|
rs754988590
|
0.00001
|
NM_003036.4(SKI):c.1243G>A (p.Val415Met)
|
rs770481744
|
0.00001
|
NM_003036.4(SKI):c.1247C>T (p.Ala416Val)
|
rs775044622
|
0.00001
|
NM_003036.4(SKI):c.1294A>G (p.Ser432Gly)
|
rs368739670
|
0.00001
|
NM_003036.4(SKI):c.129G>A (p.Ala43=)
|
rs1313492083
|
0.00001
|
NM_003036.4(SKI):c.1301C>T (p.Pro434Leu)
|
rs768068601
|
0.00001
|
NM_003036.4(SKI):c.1314C>T (p.Ala438=)
|
rs554715623
|
0.00001
|
NM_003036.4(SKI):c.1317C>T (p.Val439=)
|
rs1446526482
|
0.00001
|
NM_003036.4(SKI):c.1330G>A (p.Glu444Lys)
|
rs747693633
|
0.00001
|
NM_003036.4(SKI):c.1339G>A (p.Ala447Thr)
|
rs1325458157
|
0.00001
|
NM_003036.4(SKI):c.1411G>T (p.Val471Leu)
|
rs745717087
|
0.00001
|
NM_003036.4(SKI):c.1417G>A (p.Ala473Thr)
|
rs371772366
|
0.00001
|
NM_003036.4(SKI):c.1420C>G (p.Pro474Ala)
|
rs1057518494
|
0.00001
|
NM_003036.4(SKI):c.1422A>T (p.Pro474=)
|
rs772286488
|
0.00001
|
NM_003036.4(SKI):c.1428G>C (p.Glu476Asp)
|
rs776816870
|
0.00001
|
NM_003036.4(SKI):c.1474+4C>T
|
rs780930093
|
0.00001
|
NM_003036.4(SKI):c.1474+8T>A
|
rs1249714928
|
0.00001
|
NM_003036.4(SKI):c.1475-5C>T
|
rs1640509294
|
0.00001
|
NM_003036.4(SKI):c.1476C>T (p.Phe492=)
|
rs1006090345
|
0.00001
|
NM_003036.4(SKI):c.1485C>T (p.Ser495=)
|
rs964817956
|
0.00001
|
NM_003036.4(SKI):c.149A>T (p.Glu50Val)
|
rs1158589836
|
0.00001
|
NM_003036.4(SKI):c.1505C>T (p.Pro502Leu)
|
rs1057520161
|
0.00001
|
NM_003036.4(SKI):c.1506G>A (p.Pro502=)
|
rs975738197
|
0.00001
|
NM_003036.4(SKI):c.1521C>T (p.Ser507=)
|
rs1430227962
|
0.00001
|
NM_003036.4(SKI):c.1530C>T (p.Ala510=)
|
rs1216089588
|
0.00001
|
NM_003036.4(SKI):c.1548G>A (p.Pro516=)
|
rs1239990628
|
0.00001
|
NM_003036.4(SKI):c.1554G>A (p.Ala518=)
|
rs770050757
|
0.00001
|
NM_003036.4(SKI):c.1562T>C (p.Leu521Pro)
|
rs1161295504
|
0.00001
|
NM_003036.4(SKI):c.1572C>T (p.Ala524=)
|
rs1285131836
|
0.00001
|
NM_003036.4(SKI):c.1620G>A (p.Ala540=)
|
rs529842293
|
0.00001
|
NM_003036.4(SKI):c.163G>C (p.Ala55Pro)
|
rs769506718
|
0.00001
|
NM_003036.4(SKI):c.1700T>C (p.Val567Ala)
|
rs887731777
|
0.00001
|
NM_003036.4(SKI):c.1735G>A (p.Ala579Thr)
|
rs370558210
|
0.00001
|
NM_003036.4(SKI):c.1739C>T (p.Ala580Val)
|
rs1397350089
|
0.00001
|
NM_003036.4(SKI):c.173C>G (p.Ala58Gly)
|
rs1638564960
|
0.00001
|
NM_003036.4(SKI):c.1767+6C>T
|
rs780191562
|
0.00001
|
NM_003036.4(SKI):c.1767+7G>A
|
rs199962561
|
0.00001
|
NM_003036.4(SKI):c.1768-4C>T
|
rs200246585
|
0.00001
|
NM_003036.4(SKI):c.1795A>G (p.Lys599Glu)
|
rs761706108
|
0.00001
|
NM_003036.4(SKI):c.1797G>A (p.Lys599=)
|
rs767488534
|
0.00001
|
NM_003036.4(SKI):c.1833C>T (p.Asn611=)
|
rs1557853907
|
0.00001
|
NM_003036.4(SKI):c.1860C>T (p.Arg620=)
|
rs1002513362
|
0.00001
|
NM_003036.4(SKI):c.1878G>A (p.Lys626=)
|
rs761614569
|
0.00001
|
NM_003036.4(SKI):c.1914G>A (p.Lys638=)
|
rs752864137
|
0.00001
|
NM_003036.4(SKI):c.1998+9G>A
|
rs533071160
|
0.00001
|
NM_003036.4(SKI):c.1999-11C>T
|
rs1022360604
|
0.00001
|
NM_003036.4(SKI):c.1999-18C>T
|
rs762184119
|
0.00001
|
NM_003036.4(SKI):c.1999-9C>T
|
rs369496789
|
0.00001
|
NM_003036.4(SKI):c.2014G>A (p.Val672Met)
|
rs1339249855
|
0.00001
|
NM_003036.4(SKI):c.2026C>T (p.His676Tyr)
|
rs1376096484
|
0.00001
|
NM_003036.4(SKI):c.2029G>A (p.Ala677Thr)
|
rs1254335229
|
0.00001
|
NM_003036.4(SKI):c.2040C>G (p.Asp680Glu)
|
rs557791923
|
0.00001
|
NM_003036.4(SKI):c.2052G>T (p.Leu684=)
|
rs1271020892
|
0.00001
|
NM_003036.4(SKI):c.2057C>A (p.Ala686Asp)
|
rs1216955747
|
0.00001
|
NM_003036.4(SKI):c.2058C>T (p.Ala686=)
|
rs1171554207
|
0.00001
|
NM_003036.4(SKI):c.2074C>T (p.Arg692Cys)
|
rs1341756519
|
0.00001
|
NM_003036.4(SKI):c.2084G>A (p.Arg695Gln)
|
rs1038419071
|
0.00001
|
NM_003036.4(SKI):c.2092C>T (p.Leu698=)
|
rs766929334
|
0.00001
|
NM_003036.4(SKI):c.2128T>C (p.Trp710Arg)
|
rs863223728
|
0.00001
|
NM_003036.4(SKI):c.2133G>A (p.Pro711=)
|
rs1640594973
|
0.00001
|
NM_003036.4(SKI):c.2138C>T (p.Ala713Val)
|
rs1160688025
|
0.00001
|
NM_003036.4(SKI):c.2154G>A (p.Ala718=)
|
rs778456446
|
0.00001
|
NM_003036.4(SKI):c.2168C>A (p.Ala723Asp)
|
rs1264586139
|
0.00001
|
NM_003036.4(SKI):c.2171C>T (p.Ala724Val)
|
rs1553201577
|
0.00001
|
NM_003036.4(SKI):c.2172G>A (p.Ala724=)
|
rs879070309
|
0.00001
|
NM_003036.4(SKI):c.2175G>C (p.Glu725Asp)
|
rs1381348497
|
0.00001
|
NM_003036.4(SKI):c.235A>G (p.Ile79Val)
|
rs1638568678
|
0.00001
|
NM_003036.4(SKI):c.258G>C (p.Leu86=)
|
rs780679449
|
0.00001
|
NM_003036.4(SKI):c.300C>T (p.Arg100=)
|
rs1286311989
|
0.00001
|
NM_003036.4(SKI):c.324G>A (p.Glu108=)
|
rs201144990
|
0.00001
|
NM_003036.4(SKI):c.330C>T (p.Ile110=)
|
rs764373577
|
0.00001
|
NM_003036.4(SKI):c.340G>A (p.Val114Met)
|
rs1165144413
|
0.00001
|
NM_003036.4(SKI):c.405G>T (p.Ser135=)
|
rs769774481
|
0.00001
|
NM_003036.4(SKI):c.435G>C (p.Glu145Asp)
|
rs1221007732
|
0.00001
|
NM_003036.4(SKI):c.438C>T (p.Leu146=)
|
rs371061756
|
0.00001
|
NM_003036.4(SKI):c.45G>A (p.Pro15=)
|
rs762947696
|
0.00001
|
NM_003036.4(SKI):c.461C>T (p.Thr154Met)
|
rs1275592565
|
0.00001
|
NM_003036.4(SKI):c.464C>G (p.Ala155Gly)
|
rs559020511
|
0.00001
|
NM_003036.4(SKI):c.471G>A (p.Gln157=)
|
rs569206617
|
0.00001
|
NM_003036.4(SKI):c.480C>T (p.Ile160=)
|
rs952491836
|
0.00001
|
NM_003036.4(SKI):c.495C>T (p.Gly165=)
|
rs749438586
|
0.00001
|
NM_003036.4(SKI):c.498C>T (p.Ile166=)
|
rs768733290
|
0.00001
|
NM_003036.4(SKI):c.504C>T (p.Pro168=)
|
rs774588048
|
0.00001
|
NM_003036.4(SKI):c.553C>T (p.Leu185=)
|
rs753251990
|
0.00001
|
NM_003036.4(SKI):c.562G>A (p.Ala188Thr)
|
rs377092419
|
0.00001
|
NM_003036.4(SKI):c.611C>T (p.Ala204Val)
|
rs772336192
|
0.00001
|
NM_003036.4(SKI):c.648C>G (p.Arg216=)
|
rs1398417113
|
0.00001
|
NM_003036.4(SKI):c.663C>T (p.Tyr221=)
|
rs762684190
|
0.00001
|
NM_003036.4(SKI):c.691C>T (p.Leu231=)
|
rs1191109372
|
0.00001
|
NM_003036.4(SKI):c.699G>T (p.Val233=)
|
rs1174147537
|
0.00001
|
NM_003036.4(SKI):c.702C>G (p.Pro234=)
|
rs1057523205
|
0.00001
|
NM_003036.4(SKI):c.72C>T (p.Phe24=)
|
rs953342598
|
0.00001
|
NM_003036.4(SKI):c.75C>T (p.His25=)
|
rs1486448334
|
0.00001
|
NM_003036.4(SKI):c.795G>C (p.Lys265Asn)
|
rs1457407953
|
0.00001
|
NM_003036.4(SKI):c.81C>T (p.Ser27=)
|
rs755325222
|
0.00001
|
NM_003036.4(SKI):c.900C>A (p.Leu300=)
|
rs747649658
|
0.00001
|
NM_003036.4(SKI):c.906C>T (p.Arg302=)
|
rs772758586
|
0.00001
|
NM_003036.4(SKI):c.918C>T (p.Asp306=)
|
rs776475482
|
0.00001
|
NM_003036.4(SKI):c.919G>A (p.Val307Met)
|
rs775192483
|
0.00001
|
NM_003036.4(SKI):c.923A>G (p.Lys308Arg)
|
rs1276404635
|
0.00001
|
NM_003036.4(SKI):c.925G>A (p.Glu309Lys)
|
rs1553190080
|
0.00001
|
NM_003036.4(SKI):c.942C>T (p.Gly314=)
|
rs1245622958
|
0.00001
|
NM_003036.4(SKI):c.970-10T>C
|
rs750601690
|
0.00001
|
NM_003036.4(SKI):c.970-11A>G
|
rs1640462475
|
0.00001
|
NM_003036.4(SKI):c.974C>T (p.Ser325Phe)
|
rs779414606
|
0.00001
|
NM_003036.4(SKI):c.986C>T (p.Pro329Leu)
|
rs1407167491
|
0.00001
|
NM_003238.6(TGFB2):c.*1615T>C
|
rs886045987
|
0.00001
|
NM_003238.6(TGFB2):c.*1871C>T
|
rs1009327040
|
0.00001
|
NM_003238.6(TGFB2):c.*193A>C
|
rs1413240885
|
0.00001
|
NM_003238.6(TGFB2):c.*489A>G
|
rs558071814
|
0.00001
|
NM_003238.6(TGFB2):c.*782del
|
rs886045983
|
0.00001
|
NM_003238.6(TGFB2):c.*962A>G
|
rs886045984
|
0.00001
|
NM_003238.6(TGFB2):c.-1153G>T
|
rs886045959
|
0.00001
|
NM_003238.6(TGFB2):c.-540A>T
|
rs868385461
|
0.00001
|
NM_003238.6(TGFB2):c.-616G>A
|
rs1018085683
|
0.00001
|
NM_003238.6(TGFB2):c.-683C>A
|
rs886045962
|
0.00001
|
NM_003238.6(TGFB2):c.1052C>T (p.Pro351Leu)
|
rs773943154
|
0.00001
|
NM_003238.6(TGFB2):c.1057T>G (p.Leu353Val)
|
rs777045186
|
0.00001
|
NM_003238.6(TGFB2):c.1086+20G>C
|
rs201814950
|
0.00001
|
NM_003238.6(TGFB2):c.1095C>T (p.Ser365=)
|
rs748818194
|
0.00001
|
NM_003238.6(TGFB2):c.1098A>G (p.Leu366=)
|
rs931960431
|
0.00001
|
NM_003238.6(TGFB2):c.1122A>T (p.Ala374=)
|
rs1316829320
|
0.00001
|
NM_003238.6(TGFB2):c.1141G>A (p.Val381Met)
|
rs376159002
|
0.00001
|
NM_003238.6(TGFB2):c.1181T>C (p.Ile394Thr)
|
rs886045980
|
0.00001
|
NM_003238.6(TGFB2):c.126G>A (p.Gly42=)
|
rs1199107727
|
0.00001
|
NM_003238.6(TGFB2):c.156T>G (p.Ser52Arg)
|
rs1431335293
|
0.00001
|
NM_003238.6(TGFB2):c.209T>C (p.Ile70Thr)
|
rs1027195424
|
0.00001
|
NM_003238.6(TGFB2):c.236A>G (p.Gln79Arg)
|
rs371241859
|
0.00001
|
NM_003238.6(TGFB2):c.261C>T (p.Ala87=)
|
rs746416777
|
0.00001
|
NM_003238.6(TGFB2):c.305A>G (p.Glu102Gly)
|
rs967581444
|
0.00001
|
NM_003238.6(TGFB2):c.306G>A (p.Glu102=)
|
rs754502128
|
0.00001
|
NM_003238.6(TGFB2):c.346+20T>A
|
rs1226959859
|
0.00001
|
NM_003238.6(TGFB2):c.362C>G (p.Thr121Ser)
|
rs1300823855
|
0.00001
|
NM_003238.6(TGFB2):c.369C>T (p.Tyr123=)
|
rs368157039
|
0.00001
|
NM_003238.6(TGFB2):c.371G>A (p.Arg124Lys)
|
rs863223789
|
0.00001
|
NM_003238.6(TGFB2):c.37C>A (p.His13Asn)
|
rs763918203
|
0.00001
|
NM_003238.6(TGFB2):c.40C>T (p.Leu14=)
|
rs1407180803
|
0.00001
|
NM_003238.6(TGFB2):c.474A>T (p.Lys158Asn)
|
rs775251473
|
0.00001
|
NM_003238.6(TGFB2):c.493C>T (p.Arg165Trp)
|
rs773820426
|
0.00001
|
NM_003238.6(TGFB2):c.501G>A (p.Glu167=)
|
rs550789732
|
0.00001
|
NM_003238.6(TGFB2):c.52G>A (p.Ala18Thr)
|
rs886045975
|
0.00001
|
NM_003238.6(TGFB2):c.547C>T (p.Arg183Cys)
|
rs1436552875
|
0.00001
|
NM_003238.6(TGFB2):c.548G>A (p.Arg183His)
|
rs773177511
|
0.00001
|
NM_003238.6(TGFB2):c.583G>T (p.Glu195Ter)
|
rs863223790
|
0.00001
|
NM_003238.6(TGFB2):c.589G>A (p.Glu197Lys)
|
rs764028978
|
0.00001
|
NM_003238.6(TGFB2):c.609A>G (p.Val203=)
|
rs142588546
|
0.00001
|
NM_003238.6(TGFB2):c.612T>C (p.Thr204=)
|
rs960874816
|
0.00001
|
NM_003238.6(TGFB2):c.686G>T (p.Cys229Phe)
|
rs1185241582
|
0.00001
|
NM_003238.6(TGFB2):c.751G>T (p.Ala251Ser)
|
rs769911912
|
0.00001
|
NM_003238.6(TGFB2):c.764G>A (p.Gly255Asp)
|
rs781514831
|
0.00001
|
NM_003238.6(TGFB2):c.773C>T (p.Thr258Ile)
|
rs373352179
|
0.00001
|
NM_003238.6(TGFB2):c.775T>G (p.Tyr259Asp)
|
rs1212341043
|
0.00001
|
NM_003238.6(TGFB2):c.817A>G (p.Lys273Glu)
|
rs1467391590
|
0.00001
|
NM_003238.6(TGFB2):c.826G>A (p.Gly276Arg)
|
rs1169804851
|
0.00001
|
NM_003238.6(TGFB2):c.893G>A (p.Arg298Gln)
|
rs762561484
|
0.00001
|
NM_003238.6(TGFB2):c.910T>G (p.Leu304Val)
|
rs1478901182
|
0.00001
|
NM_003238.6(TGFB2):c.918G>A (p.Ala306=)
|
rs767936611
|
0.00001
|
NM_003238.6(TGFB2):c.942G>A (p.Gln314=)
|
rs188801474
|
0.00001
|
NM_003238.6(TGFB2):c.957A>C (p.Leu319=)
|
rs755474865
|
0.00001
|
NM_003238.6(TGFB2):c.970A>G (p.Ile324Val)
|
rs866788278
|
0.00001
|
NM_003239.5(TGFB3):c.*495C>T
|
rs387906514
|
0.00001
|
NM_003239.5(TGFB3):c.1048T>A (p.Tyr350Asn)
|
rs1400200743
|
0.00001
|
NM_003239.5(TGFB3):c.1050C>T (p.Tyr350=)
|
rs1386754558
|
0.00001
|
NM_003239.5(TGFB3):c.1054C>T (p.Arg352Cys)
|
rs749485028
|
0.00001
|
NM_003239.5(TGFB3):c.1076G>C (p.Ser359Thr)
|
rs1474531974
|
0.00001
|
NM_003239.5(TGFB3):c.1079C>T (p.Thr360Met)
|
rs750299821
|
0.00001
|
NM_003239.5(TGFB3):c.1137G>A (p.Val379=)
|
rs751480221
|
0.00001
|
NM_003239.5(TGFB3):c.1150G>A (p.Glu384Lys)
|
rs1304975316
|
0.00001
|
NM_003239.5(TGFB3):c.1175T>C (p.Val392Ala)
|
rs759168311
|
0.00001
|
NM_003239.5(TGFB3):c.11A>G (p.His4Arg)
|
rs371772819
|
0.00001
|
NM_003239.5(TGFB3):c.1230A>G (p.Lys410=)
|
rs373100223
|
0.00001
|
NM_003239.5(TGFB3):c.16C>G (p.Gln6Glu)
|
rs367967889
|
0.00001
|
NM_003239.5(TGFB3):c.230G>A (p.Arg77Gln)
|
rs1036545575
|
0.00001
|
NM_003239.5(TGFB3):c.289G>A (p.Glu97Lys)
|
rs769627183
|
0.00001
|
NM_003239.5(TGFB3):c.294G>A (p.Ser98=)
|
rs778214495
|
0.00001
|
NM_003239.5(TGFB3):c.2T>A (p.Met1Lys)
|
rs1555361455
|
0.00001
|
NM_003239.5(TGFB3):c.339G>A (p.Gly113=)
|
rs886050798
|
0.00001
|
NM_003239.5(TGFB3):c.369C>T (p.Cys123=)
|
rs1457776871
|
0.00001
|
NM_003239.5(TGFB3):c.389A>G (p.Lys130Arg)
|
rs780051351
|
0.00001
|
NM_003239.5(TGFB3):c.393T>C (p.Val131=)
|
rs1302391555
|
0.00001
|
NM_003239.5(TGFB3):c.405T>C (p.Asn135=)
|
rs756208950
|
0.00001
|
NM_003239.5(TGFB3):c.420G>A (p.Glu140=)
|
rs878854609
|
0.00001
|
NM_003239.5(TGFB3):c.435C>T (p.Asn145=)
|
rs2035294472
|
0.00001
|
NM_003239.5(TGFB3):c.440T>G (p.Phe147Cys)
|
rs752691299
|
0.00001
|
NM_003239.5(TGFB3):c.443G>A (p.Arg148Gln)
|
rs776388495
|
0.00001
|
NM_003239.5(TGFB3):c.454C>T (p.Arg152Trp)
|
rs546744152
|
0.00001
|
NM_003239.5(TGFB3):c.463C>T (p.Arg155Trp)
|
rs868258653
|
0.00001
|
NM_003239.5(TGFB3):c.471C>G (p.Pro157=)
|
rs768917005
|
0.00001
|
NM_003239.5(TGFB3):c.480C>T (p.Ser160=)
|
rs1555360832
|
0.00001
|
NM_003239.5(TGFB3):c.487C>T (p.Arg163Trp)
|
rs142601521
|
0.00001
|
NM_003239.5(TGFB3):c.516+14C>T
|
rs757567007
|
0.00001
|
NM_003239.5(TGFB3):c.516+15A>G
|
rs199930875
|
0.00001
|
NM_003239.5(TGFB3):c.521T>A (p.Leu174His)
|
rs869025534
|
0.00001
|
NM_003239.5(TGFB3):c.524G>A (p.Arg175Gln)
|
rs1319852054
|
0.00001
|
NM_003239.5(TGFB3):c.534G>A (p.Glu178=)
|
rs148895204
|
0.00001
|
NM_003239.5(TGFB3):c.550C>T (p.Arg184Cys)
|
rs767125999
|
0.00001
|
NM_003239.5(TGFB3):c.56C>T (p.Thr19Met)
|
rs770761155
|
0.00001
|
NM_003239.5(TGFB3):c.580C>T (p.Arg194Trp)
|
rs368004396
|
0.00001
|
NM_003239.5(TGFB3):c.612C>T (p.Val204=)
|
rs1000679465
|
0.00001
|
NM_003239.5(TGFB3):c.729C>T (p.His243=)
|
rs746620931
|
0.00001
|
NM_003239.5(TGFB3):c.730G>A (p.Glu244Lys)
|
rs1085307755
|
0.00001
|
NM_003239.5(TGFB3):c.755-20A>C
|
rs747852718
|
0.00001
|
NM_003239.5(TGFB3):c.755-5T>C
|
rs768188445
|
0.00001
|
NM_003239.5(TGFB3):c.75C>T (p.Ser25=)
|
rs773168115
|
0.00001
|
NM_003239.5(TGFB3):c.769G>T (p.Asp257Tyr)
|
rs2035184083
|
0.00001
|
NM_003239.5(TGFB3):c.77C>G (p.Thr26Ser)
|
rs771543236
|
0.00001
|
NM_003239.5(TGFB3):c.798C>T (p.Arg266=)
|
rs772654040
|
0.00001
|
NM_003239.5(TGFB3):c.806A>G (p.Lys269Arg)
|
rs771638085
|
0.00001
|
NM_003239.5(TGFB3):c.812A>G (p.Lys271Arg)
|
rs2035183279
|
0.00001
|
NM_003239.5(TGFB3):c.82A>C (p.Thr28Pro)
|
rs564013964
|
0.00001
|
NM_003239.5(TGFB3):c.840C>T (p.Leu280=)
|
rs746293134
|
0.00001
|
NM_003239.5(TGFB3):c.878A>C (p.Gln293Pro)
|
rs759234781
|
0.00001
|
NM_003239.5(TGFB3):c.897G>A (p.Lys299=)
|
rs771455698
|
0.00001
|
NM_003239.5(TGFB3):c.900G>C (p.Arg300=)
|
rs761439201
|
0.00001
|
NM_003239.5(TGFB3):c.914A>G (p.Asn305Ser)
|
rs369281541
|
0.00001
|
NM_003239.5(TGFB3):c.926+8_926+9del
|
rs1491398509
|
0.00001
|
NM_003239.5(TGFB3):c.927-19T>C
|
rs199714510
|
0.00001
|
NM_003239.5(TGFB3):c.927-4G>A
|
rs201637508
|
0.00001
|
NM_003239.5(TGFB3):c.94T>A (p.Phe32Ile)
|
rs1194816649
|
0.00001
|
NM_003239.5(TGFB3):c.957C>T (p.Pro319=)
|
rs977821614
|
0.00001
|
NM_003239.5(TGFB3):c.965T>C (p.Ile322Thr)
|
rs762643638
|
0.00001
|
NM_003239.5(TGFB3):c.99C>T (p.Gly33=)
|
rs757663439
|
0.00001
|
NM_003242.6(TGFBR2):c.*1201C>T
|
rs886058318
|
0.00001
|
NM_003242.6(TGFBR2):c.*1285A>T
|
rs574876197
|
0.00001
|
NM_003242.6(TGFBR2):c.*1465T>C
|
rs1171877784
|
0.00001
|
NM_003242.6(TGFBR2):c.*1887G>A
|
rs886058324
|
0.00001
|
NM_003242.6(TGFBR2):c.*1998G>A
|
rs886058325
|
0.00001
|
NM_003242.6(TGFBR2):c.*820G>A
|
rs1259248325
|
0.00001
|
NM_003242.6(TGFBR2):c.-117G>A
|
rs886058302
|
0.00001
|
NM_003242.6(TGFBR2):c.1067G>A (p.Arg356Gln)
|
rs727504292
|
0.00001
|
NM_003242.6(TGFBR2):c.1153A>G (p.Ile385Val)
|
rs137908708
|
0.00001
|
NM_003242.6(TGFBR2):c.1207C>T (p.Arg403Cys)
|
rs886038960
|
0.00001
|
NM_003242.6(TGFBR2):c.1208G>A (p.Arg403His)
|
rs143095746
|
0.00001
|
NM_003242.6(TGFBR2):c.1525-10C>G
|
rs747069454
|
0.00001
|
NM_003242.6(TGFBR2):c.1546A>T (p.Thr516Ser)
|
rs370708687
|
0.00001
|
NM_003242.6(TGFBR2):c.1547C>T (p.Thr516Met)
|
rs149847376
|
0.00001
|
NM_003242.6(TGFBR2):c.1643C>T (p.Ser548Leu)
|
rs755070814
|
0.00001
|
NM_003242.6(TGFBR2):c.1645G>T (p.Gly549Trp)
|
rs748418894
|
0.00001
|
NM_003242.6(TGFBR2):c.1681G>A (p.Gly561Ser)
|
rs768103695
|
0.00001
|
NM_003242.6(TGFBR2):c.412T>G (p.Cys138Gly)
|
rs863223838
|
0.00001
|
NM_003242.6(TGFBR2):c.505G>C (p.Gly169Arg)
|
rs759362407
|
0.00001
|
NM_003242.6(TGFBR2):c.621G>A (p.Arg207=)
|
rs886058304
|
0.00001
|
NM_003242.6(TGFBR2):c.76C>T (p.Pro26Ser)
|
rs764160271
|
0.00001
|
NM_003242.6(TGFBR2):c.803C>T (p.Ser268Leu)
|
rs139078984
|
0.00001
|
NM_003242.6(TGFBR2):c.94+16293C>A
|
rs138262219
|
0.00001
|
NM_003242.6(TGFBR2):c.95-2A>G
|
rs779131465
|
0.00001
|
NM_003242.6(TGFBR2):c.95-3679C>A
|
rs1312697004
|
0.00001
|
NM_004612.4(TGFBR1):c.*1343T>C
|
rs11568810
|
0.00001
|
NM_004612.4(TGFBR1):c.*1910A>G
|
rs1251469176
|
0.00001
|
NM_004612.4(TGFBR1):c.*2409A>G
|
rs1268827179
|
0.00001
|
NM_004612.4(TGFBR1):c.*2791G>A
|
rs201846922
|
0.00001
|
NM_004612.4(TGFBR1):c.*2833G>A
|
rs200520116
|
0.00001
|
NM_004612.4(TGFBR1):c.*2880C>A
|
rs886063247
|
0.00001
|
NM_004612.4(TGFBR1):c.*2943A>G
|
rs937916276
|
0.00001
|
NM_004612.4(TGFBR1):c.*3056C>A
|
rs886063249
|
0.00001
|
NM_004612.4(TGFBR1):c.*3790C>T
|
rs201101442
|
0.00001
|
NM_004612.4(TGFBR1):c.*4219G>A
|
rs1022130561
|
0.00001
|
NM_004612.4(TGFBR1):c.*4295C>T
|
rs199650257
|
0.00001
|
NM_004612.4(TGFBR1):c.*441C>T
|
rs202012098
|
0.00001
|
NM_004612.4(TGFBR1):c.*789G>A
|
rs200428927
|
0.00001
|
NM_004612.4(TGFBR1):c.-31G>A
|
rs1404137226
|
0.00001
|
NM_004612.4(TGFBR1):c.1460G>A (p.Arg487Gln)
|
rs113605875
|
0.00001
|
NM_004612.4(TGFBR1):c.451C>T (p.Arg151Cys)
|
rs776680716
|
0.00001
|
NM_004612.4(TGFBR1):c.479A>G (p.Asn160Ser)
|
rs767785290
|
0.00001
|
NM_004612.4(TGFBR1):c.521G>T (p.Gly174Val)
|
rs121918713
|
0.00001
|
NM_004612.4(TGFBR1):c.666A>G (p.Gly222=)
|
rs886063223
|
0.00001
|
NM_004612.4(TGFBR1):c.844T>C (p.Tyr282His)
|
rs755827803
|
0.00001
|
NM_004612.4(TGFBR1):c.889G>A (p.Val297Ile)
|
rs757284158
|
0.00001
|
NM_004612.4(TGFBR1):c.88G>C (p.Gly30Arg)
|
rs1826374374
|
0.00001
|
NM_004612.4(TGFBR1):c.934G>A (p.Gly312Ser)
|
rs760079636
|
0.00001
|
NM_005902.3(SMAD3):c.*4658T>C
|
rs548318946
|
0.00001
|
NM_005902.4(SMAD3):c.*1159A>G
|
rs1002378365
|
0.00001
|
NM_005902.4(SMAD3):c.*1455G>C
|
rs1479158835
|
0.00001
|
NM_005902.4(SMAD3):c.*1819C>T
|
rs886051406
|
0.00001
|
NM_005902.4(SMAD3):c.*804C>T
|
rs1217099486
|
0.00001
|
NM_005902.4(SMAD3):c.*925G>A
|
rs886051389
|
0.00001
|
NM_005902.4(SMAD3):c.1010-12T>C
|
rs773629535
|
0.00001
|
NM_005902.4(SMAD3):c.1059C>A (p.Ala353=)
|
rs767649515
|
0.00001
|
NM_005902.4(SMAD3):c.206+11G>T
|
rs763321881
|
0.00001
|
NM_005902.4(SMAD3):c.268C>T (p.Arg90Cys)
|
rs1085307496
|
0.00001
|
NM_005902.4(SMAD3):c.341A>G (p.Asn114Ser)
|
rs369221296
|
0.00001
|
NM_005902.4(SMAD3):c.455C>A (p.Pro152Gln)
|
rs375574124
|
0.00001
|
NM_005902.4(SMAD3):c.643G>A (p.Ala215Thr)
|
rs1962721856
|
0.00001
|
NM_005902.4(SMAD3):c.658+15G>C
|
rs1296574345
|
0.00001
|
GRCh37/hg19 15q21.1(chr15:48703187-48714265)
|
|
|
GRCh37/hg19 15q21.1(chr15:48703187-48766574)
|
|
|
GRCh37/hg19 15q21.1(chr15:48703187-48937906)
|
|
|
GRCh37/hg19 15q21.1(chr15:48707733-48758055)
|
|
|
GRCh37/hg19 15q21.1(chr15:48720543-48730114)
|
|
|
GRCh37/hg19 15q21.1(chr15:48722868-48726910)
|
|
|
GRCh37/hg19 15q21.1(chr15:48725063-48784783)
|
|
|
GRCh37/hg19 15q21.1(chr15:48725063-48892431)
|
|
|
GRCh37/hg19 15q21.1(chr15:48736739-48736857)
|
|
|
GRCh37/hg19 15q21.1(chr15:48777571-48791235)
|
|
|
GRCh37/hg19 15q21.1(chr15:48782048-48782275)
|
|
|
GRCh37/hg19 15q21.1(chr15:48789463-48791235)
|
|
|
GRCh37/hg19 15q21.1(chr15:48902925-48937906)
|
|
|
GRCh37/hg19 3p24.1(chr3:30729876-30730003)
|
|
|
NC_000001.10:g.(?_2160186)_(2238224_?)dup
|
|
|
NC_000001.10:g.(?_218520044)_(218607810_?)del
|
|
|
NC_000001.10:g.(?_218520044)_(218614704_?)del
|
|
|
NC_000001.10:g.(?_218578501)_(218610848_?)del
|
|
|
NC_000001.10:g.(?_218607404)_(218607810_?)dup
|
|
|
NC_000001.10:g.(?_2234397)_(2238204_?)dup
|
|
|
NC_000001.10:g.(?_955543)_(2957600_?)del
|
|
|
NC_000001.11:g.(?_218344334)_(218445619_?)del
|
|
|
NC_000001.11:g.(?_218405159)_(218405342_?)dup
|
|
|
NC_000001.11:g.(?_218405159)_(218444629_?)del
|
|
|
NC_000001.11:g.(?_218435960)_(218437506_?)del
|
|
|
NC_000001.11:g.(?_218441194)_(218444629_?)del
|
|
|
NC_000005.10:g.(?_128300797)_(128303109_?)del
|
|
|
NC_000005.10:g.(?_128301372)_(128312805_?)dup
|
|
|
NC_000005.10:g.(?_128318139)_(128319011_?)dup
|
|
|
NC_000005.10:g.(?_128318149)_(128319001_?)del
|
|
|
NC_000005.10:g.(?_128328686)_(128330705_?)del
|
|
|
NC_000005.10:g.(?_128350858)_(128351015_?)del
|
|
|
NC_000005.10:g.(?_128408654)_(128530713_?)del
|
|
|
NC_000005.10:g.(?_128408664)_(128530703_?)del
|
|
|
NC_000005.10:g.(?_128530575)_(128530713_?)del
|
|
|
NC_000005.10:g.(?_128537340)_(128537613_?)del
|
|
|
NC_000005.9:g.(?_127595147)_(127873296_?)del
|
|
|
NC_000005.9:g.(?_127622400)_(127645101_?)dup
|
|
|
NC_000005.9:g.(?_127666245)_(127668746_?)del
|
|
|
NC_000005.9:g.(?_127666331)_(127799615_?)del
|
|
|
NC_000005.9:g.(?_127685029)_(127686707_?)del
|
|
|
NC_000005.9:g.(?_127689859)_(127693060_?)del
|
|
|
NC_000005.9:g.(?_127712503)_(127716032_?)del
|
|
|
NC_000012.11:g.(?_98909636)_(98909934_?)del
|
|
|
NC_000012.11:g.(?_98909646)_(98909944_?)dup
|
|
|
NC_000014.8:g.(?_76425530)_(76432058_?)del
|
|
|
NC_000014.8:g.(?_76425530)_(76432058_?)dup
|
|
|
NC_000014.8:g.(?_76437449)_(76438081_?)del
|
|
|
NC_000014.9:g.(?_75958692)_(75965705_?)del
|
|
|
NC_000014.9:g.(?_75958692)_(75971728_?)del
|
|
|
NC_000014.9:g.(?_75958692)_(75980923_?)del
|
|
|
NC_000015.10:g.(48494255_48495122)_(48499039_48503786)del
|
|
|
NC_000015.10:g.(?_48134288)_(48644779_?)del
|
|
|
NC_000015.10:g.(?_48410970)_(48412763_?)del
|
|
|
NC_000015.10:g.(?_48410970)_(48497411_?)del
|
|
|
NC_000015.10:g.(?_48410970)_(48537828_?)del
|
|
|
NC_000015.10:g.(?_48410970)_(48644789_?)del
|
|
|
NC_000015.10:g.(?_48410980)_(48411389_?)del
|
|
|
NC_000015.10:g.(?_48410980)_(48465868_?)del
|
|
|
NC_000015.10:g.(?_48415161)_(48415777_?)del
|
|
|
NC_000015.10:g.(?_48415161)_(48468554_?)del
|
|
|
NC_000015.10:g.(?_48425359)_(48441856_?)del
|
|
|
NC_000015.10:g.(?_48428336)_(48474660_?)del
|
|
|
NC_000015.10:g.(?_48434584)_(48434723_?)del
|
|
|
NC_000015.10:g.(?_48434584)_(48437927_?)del
|
|
|
NC_000015.10:g.(?_48444521)_(48445524_?)del
|
|
|
NC_000015.10:g.(?_48444531)_(48444670_?)del
|
|
|
NC_000015.10:g.(?_48444531)_(48448903_?)del
|
|
|
NC_000015.10:g.(?_48446696)_(48446910_?)del
|
|
|
NC_000015.10:g.(?_48460226)_(48460337_?)del
|
|
|
NC_000015.10:g.(?_48460226)_(48499058_?)del
|
|
|
NC_000015.10:g.(?_48470614)_(48499058_?)del
|
|
|
NC_000015.10:g.(?_48470634)_(48470756_?)del
|
|
|
NC_000015.10:g.(?_48492451)_(48492596_?)del
|
|
|
NC_000015.10:g.(?_48503767)_(48510189_?)del
|
|
|
NC_000015.10:g.(?_48503777)_(48516372_?)del
|
|
|
NC_000015.10:g.(?_48503777)_(48613102_?)del
|
|
|
NC_000015.10:g.(?_48508562)_(48516382_?)del
|
|
|
NC_000015.10:g.(?_48508562)_(48644789_?)del
|
|
|
NC_000015.10:g.(?_48508572)_(48510179_?)del
|
|
|
NC_000015.10:g.(?_48520639)_(48520837_?)del
|
|
|
NC_000015.10:g.(?_48596263)_(48644789_?)del
|
|
|
NC_000015.10:g.(?_48596273)_(48613102_?)del
|
|
|
NC_000015.10:g.(?_48596273)_(48613102_?)dup
|
|
|
NC_000015.10:g.(?_48596273)_(48644779_?)del
|
|
|
NC_000015.10:g.(?_48610708)_(48613112_?)del
|
|
|
NC_000015.10:g.(?_48612990)_(48644789_?)del
|
|
|
NC_000015.10:g.(?_48613000)_(48644779_?)del
|
|
|
NC_000015.10:g.(?_48644596)_(48644779_?)del
|
|
|
NC_000015.9:g.(?_48426485)_(48730124_?)del
|
|
|
NC_000015.9:g.(?_48695060)_(48703482_?)del
|
|
|
NC_000015.9:g.(?_48703167)_(48726930_?)dup
|
|
|
NC_000015.9:g.(?_48703177)_(48726920_?)dup
|
|
|
NC_000015.9:g.(?_48703177)_(48830015_?)del
|
|
|
NC_000015.9:g.(?_48703181)_(48744887_?)del
|
|
|
NC_000015.9:g.(?_48703187)_(48707984_?)del
|
|
|
NC_000015.9:g.(?_48703187)_(48713903_?)del
|
|
|
NC_000015.9:g.(?_48703187)_(48714285_?)del
|
|
|
NC_000015.9:g.(?_48703187)_(48741110_?)del
|
|
|
NC_000015.9:g.(?_48703187)_(48748979_?)dup
|
|
|
NC_000015.9:g.(?_48703187)_(48936966_?)del
|
|
|
NC_000015.9:g.(?_48703187)_(48936966_?)dup
|
|
|
NC_000015.9:g.(?_48704746)_(48713023_?)dup
|
|
|
NC_000015.9:g.(?_48707358)_(48714275_?)del
|
|
|
NC_000015.9:g.(?_48717965)_(48720525_?)del
|
|
|
NC_000015.9:g.(?_48720523)_(48725205_?)del
|
|
|
NC_000015.9:g.(?_48722912)_(48727571_?)del
|
|
|
NC_000015.9:g.(?_48726874)_(48728050_?)del
|
|
|
NC_000015.9:g.(?_48729138)_(48730134_?)dup
|
|
|
NC_000015.9:g.(?_48729138)_(48734063_?)del
|
|
|
NC_000015.9:g.(?_48729138)_(48748979_?)del
|
|
|
NC_000015.9:g.(?_48733898)_(48734063_?)del
|
|
|
NC_000015.9:g.(?_48736718)_(48736877_?)del
|
|
|
NC_000015.9:g.(?_48760115)_(48760319_?)dup
|
|
|
NC_000015.9:g.(?_48762825)_(48762959_?)del
|
|
|
NC_000015.9:g.(?_48766715)_(48766857_?)del
|
|
|
NC_000015.9:g.(?_48773832)_(48936966_?)del
|
|
|
NC_000015.9:g.(?_48781877)_(48782069_?)del
|
|
|
NC_000015.9:g.(?_48782167)_(48927084_?)del
|
|
|
NC_000015.9:g.(?_48791031)_48829849del
|
|
|
NC_000015.9:g.(?_48791162)_(48791255_?)del
|
|
|
NC_000015.9:g.(?_48791162)_(48830025_?)del
|
|
|
NC_000015.9:g.(?_48791162)_(48936966_?)del
|
|
|
NC_000015.9:g.(?_48795974)_(48830015_?)del
|
|
|
NC_000015.9:g.(?_48802221)_(48936966_?)del
|
|
|
NC_000015.9:g.(?_48805726)_(48808579_?)del
|
|
|
NC_000015.9:g.(?_48805726)_(48813034_?)del
|
|
|
NC_000015.9:g.(?_48805736)_(48936976_?)del
|
|
|
NC_000015.9:g.(?_48812836)_(48905309_?)dup
|
|
|
NC_000015.9:g.(?_48812846)_(48905299_?)dup
|
|
|
NC_000015.9:g.(?_48826257)_(49097846_?)del
|
|
|
NC_000015.9:g.(?_48826267)_(48936976_?)del
|
|
|
NC_000015.9:g.(?_48888460)_(48888595_?)del
|
|
|
NC_000015.9:g.(?_48888460)_(48905309_?)del
|
|
|
NC_000015.9:g.(?_48888460)_(48905309_?)dup
|
|
|
NC_000015.9:g.(?_48902905)_(48936966_?)del
|
|
|
NC_000015.9:g.(?_48902915)_(48905299_?)del
|
|
|
NC_000015.9:g.(?_48936783)_(48936966_?)del
|
|
|
NC_000015.9:g.48703187_48748959del45773
|
|
|
NC_000015.9:g.48793164_49095744del
|
|
|
NG_008805.2:g.(135403_137120)_(206249_208942)del
|
|
|
NM_000090.4(COL3A1):c.3472G>C (p.Gly1158Arg)
|
rs587779715
|
|
NM_000138.3:c.(5065+1_5066-1)_(5545+1_5546-1)del
|
|
|
NM_000138.4(FBN1):c.(?_4473)_(8280_?)del
|
|
|
NM_000138.4(FBN1):c.(?_5475)_(5542_?)del
|
|
|
NM_000138.4(FBN1):c.-371T>C
|
rs886051257
|
|
NM_000138.4(FBN1):c.-389_-388TC[1]
|
rs886051258
|
|
NM_000138.4(FBN1):c.-400A>T
|
rs1890299170
|
|
NM_000138.4(FBN1):c.1888_1889delinsC (p.Asn630fs)
|
rs1060501058
|
|
NM_000138.4(FBN1):c.2471_2474delinsAATAAA (p.Ser824_Pro825delinsLysTer)
|
rs1566911724
|
|
NM_000138.4(FBN1):c.2682_2692delinsTTTACC (p.Ile895fs)
|
rs1555399095
|
|
NM_000138.4(FBN1):c.305_306delinsAA (p.Cys102Ter)
|
rs1555405530
|
|
NM_000138.4(FBN1):c.3232_3236delinsATCTC (p.Pro1078_Asp1079delinsIleSer)
|
rs1555398643
|
|
NM_000138.4(FBN1):c.3465_3466delinsAAG (p.Asp1155fs)
|
rs1555398527
|
|
NM_000138.4(FBN1):c.40_49del (p.Phe13_Thr14insTer)
|
rs1597652471
|
|
NM_000138.4(FBN1):c.4821delinsCA (p.Asp1608fs)
|
rs1555397007
|
|
NM_000138.4(FBN1):c.5225_5249del
|
rs1555396635
|
|
NM_000138.4(FBN1):c.5225_5296del
|
rs1566902526
|
|
NM_000138.4(FBN1):c.5362_5364delinsGACT (p.Ser1788fs)
|
rs1566901605
|
|
NM_000138.4(FBN1):c.5423-?_*2684+?del
|
|
|
NM_000138.4(FBN1):c.5470_5471delinsAT (p.Cys1824Ile)
|
rs1555396205
|
|
NM_000138.4(FBN1):c.5593_5594dup (p.Ile1866fs)
|
rs886043709
|
|
NM_000138.4(FBN1):c.6038_6163del
|
rs1566897376
|
|
NM_000138.4(FBN1):c.6497_6616del
|
rs1566895223
|
|
NM_000138.4(FBN1):c.6740_6871del
|
rs1566894226
|
|
NM_000138.4(FBN1):c.7703_7708delTGGACG
|
rs1060501015
|
|
NM_000138.4(FBN1):c.7930delGins34 (p.?)
|
|
|
NM_000138.4(FBN1):c.8051delinsTT (p.Gly2684fs)
|
rs1555393824
|
|
NM_000138.5(FBN1):c.*1007G>T
|
rs886051236
|
|
NM_000138.5(FBN1):c.*107A>G
|
rs562749473
|
|
NM_000138.5(FBN1):c.*1122C>T
|
rs2042846511
|
|
NM_000138.5(FBN1):c.*1201T>G
|
rs574181586
|
|
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.*235T>C
|
rs1597506366
|
|
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.*311G>A
|
rs894774727
|
|
NM_000138.5(FBN1):c.*325T>C
|
rs537909430
|
|
NM_000138.5(FBN1):c.*399C>A
|
rs2042852375
|
|
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.-108G>A
|
rs1029606067
|
|
NM_000138.5(FBN1):c.-117del
|
rs193922178
|
|
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.1003_1004del (p.Tyr335fs)
|
rs2141336256
|
|
NM_000138.5(FBN1):c.1006T>C (p.Cys336Arg)
|
rs1555400612
|
|
NM_000138.5(FBN1):c.1006T>G (p.Cys336Gly)
|
rs1555400612
|
|
NM_000138.5(FBN1):c.1007G>A (p.Cys336Tyr)
|
rs2141336245
|
|
NM_000138.5(FBN1):c.1010dup (p.Tyr337Ter)
|
rs1566918075
|
|
NM_000138.5(FBN1):c.1011C>A (p.Tyr337Ter)
|
rs1057520656
|
|
NM_000138.5(FBN1):c.1015G>A (p.Ala339Thr)
|
rs2141336224
|
|
NM_000138.5(FBN1):c.1015G>T (p.Ala339Ser)
|
rs2141336224
|
|
NM_000138.5(FBN1):c.1021_1028del (p.Thr341fs)
|
rs1566918060
|
|
NM_000138.5(FBN1):c.102G>C (p.Val34=)
|
|
|
NM_000138.5(FBN1):c.1032C>T (p.Arg344=)
|
rs2141336180
|
|
NM_000138.5(FBN1):c.1035C>A (p.Cys345Ter)
|
rs1597584082
|
|
NM_000138.5(FBN1):c.1038T>A (p.Ser346=)
|
rs2141336171
|
|
NM_000138.5(FBN1):c.1042C>T (p.Gln348Ter)
|
rs886039550
|
|
NM_000138.5(FBN1):c.1048C>T (p.Pro350Ser)
|
|
|
NM_000138.5(FBN1):c.1051C>T (p.Gln351Ter)
|
rs397515753
|
|
NM_000138.5(FBN1):c.1051_1052del (p.Gln351fs)
|
rs2141336143
|
|
NM_000138.5(FBN1):c.1057A>G (p.Ile353Val)
|
|
|
NM_000138.5(FBN1):c.1057A>T (p.Ile353Leu)
|
rs750653834
|
|
NM_000138.5(FBN1):c.1061_1067dup (p.Met356fs)
|
|
|
NM_000138.5(FBN1):c.1066del (p.Met356fs)
|
rs1555400609
|
|
NM_000138.5(FBN1):c.1067dup (p.Met356fs)
|
|
|
NM_000138.5(FBN1):c.1069C>T (p.Gln357Ter)
|
rs2043846274
|
|
NM_000138.5(FBN1):c.1072T>A (p.Cys358Ser)
|
|
|
NM_000138.5(FBN1):c.1073G>A (p.Cys358Tyr)
|
rs1555400606
|
|
NM_000138.5(FBN1):c.1074_1081del (p.Cys358_Asp361delinsTer)
|
rs2141336085
|
|
NM_000138.5(FBN1):c.1075T>C (p.Cys359Arg)
|
rs1555400604
|
|
NM_000138.5(FBN1):c.1075_1089del (p.Cys359_Gly363del)
|
|
|
NM_000138.5(FBN1):c.1076G>A (p.Cys359Tyr)
|
rs1555400603
|
|
NM_000138.5(FBN1):c.1076G>T (p.Cys359Phe)
|
rs1555400603
|
|
NM_000138.5(FBN1):c.1079G>A (p.Cys360Tyr)
|
rs1555400601
|
|
NM_000138.5(FBN1):c.1082A>T (p.Asp361Val)
|
rs2043845991
|
|
NM_000138.5(FBN1):c.1090C>T (p.Arg364Ter)
|
rs794728165
|
|
NM_000138.5(FBN1):c.1090del (p.Arg364fs)
|
rs2043845786
|
|
NM_000138.5(FBN1):c.1095C>A (p.Cys365Ter)
|
rs397515755
|
|
NM_000138.5(FBN1):c.1097G>C (p.Trp366Ser)
|
|
|
NM_000138.5(FBN1):c.1098G>C (p.Trp366Cys)
|
rs1555400595
|
|
NM_000138.5(FBN1):c.1098G>T (p.Trp366Cys)
|
rs1555400595
|
|
NM_000138.5(FBN1):c.1099T>C (p.Ser367Pro)
|
rs2043845566
|
|
NM_000138.5(FBN1):c.109A>T (p.Thr37Ser)
|
rs1890260265
|
|
NM_000138.5(FBN1):c.1100C>T (p.Ser367Phe)
|
|
|
NM_000138.5(FBN1):c.1106G>C (p.Gly369Ala)
|
|
|
NM_000138.5(FBN1):c.1113T>C (p.Thr371=)
|
|
|
NM_000138.5(FBN1):c.1117del (p.Ala373fs)
|
|
|
NM_000138.5(FBN1):c.1118C>A (p.Ala373Asp)
|
|
|
NM_000138.5(FBN1):c.1125G>T (p.Glu375Asp)
|
|
|
NM_000138.5(FBN1):c.1128_1147+2dup
|
|
|
NM_000138.5(FBN1):c.1129T>C (p.Cys377Arg)
|
rs886039066
|
|
NM_000138.5(FBN1):c.1129T>G (p.Cys377Gly)
|
|
|
NM_000138.5(FBN1):c.112A>G (p.Arg38Gly)
|
|
|
NM_000138.5(FBN1):c.112A>T (p.Arg38Ter)
|
rs1355716557
|
|
NM_000138.5(FBN1):c.1130G>A (p.Cys377Tyr)
|
rs1597583989
|
|
NM_000138.5(FBN1):c.1133C>G (p.Pro378Arg)
|
rs1274000764
|
|
NM_000138.5(FBN1):c.1134del (p.Ile379fs)
|
rs1060501038
|
|
NM_000138.5(FBN1):c.1138A>T (p.Arg380Ter)
|
rs1566917979
|
|
NM_000138.5(FBN1):c.1144A>G (p.Thr382Ala)
|
|
|
NM_000138.5(FBN1):c.1145C>T (p.Thr382Ile)
|
|
|
NM_000138.5(FBN1):c.1147+19A>G
|
rs369942195
|
|
NM_000138.5(FBN1):c.1147+2T>A
|
rs2141335915
|
|
NM_000138.5(FBN1):c.1147+3A>C
|
rs1597583956
|
|
NM_000138.5(FBN1):c.1147G>A (p.Glu383Lys)
|
rs794728325
|
|
NM_000138.5(FBN1):c.1148-16T>C
|
|
|
NM_000138.5(FBN1):c.1148-16del
|
|
|
NM_000138.5(FBN1):c.1148-2A>G
|
rs397515756
|
|
NM_000138.5(FBN1):c.1148-6T>C
|
|
|
NM_000138.5(FBN1):c.114del (p.Ala39fs)
|
|
|
NM_000138.5(FBN1):c.1155_1165del (p.Phe385fs)
|
|
|
NM_000138.5(FBN1):c.1156A>C (p.Asn386His)
|
rs1597581597
|
|
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.1164G>T (p.Leu388=)
|
|
|
NM_000138.5(FBN1):c.1165dup (p.Cys389fs)
|
|
|
NM_000138.5(FBN1):c.1167C>A (p.Cys389Ter)
|
rs746201757
|
|
NM_000138.5(FBN1):c.1168T>C (p.Ser390Pro)
|
rs779113310
|
|
NM_000138.5(FBN1):c.1175C>G (p.Pro392Arg)
|
rs534127494
|
|
NM_000138.5(FBN1):c.1175C>T (p.Pro392Leu)
|
rs534127494
|
|
NM_000138.5(FBN1):c.1178T>C (p.Met393Thr)
|
|
|
NM_000138.5(FBN1):c.1185dup (p.Pro396fs)
|
rs2043801575
|
|
NM_000138.5(FBN1):c.1188_1206del (p.Gly397fs)
|
|
|
NM_000138.5(FBN1):c.1192A>T (p.Arg398Ter)
|
rs397515754
|
|
NM_000138.5(FBN1):c.1193G>A (p.Arg398Lys)
|
rs886051250
|
|
NM_000138.5(FBN1):c.1195C>G (p.Pro399Ala)
|
rs886039155
|
|
NM_000138.5(FBN1):c.1196C>T (p.Pro399Leu)
|
rs1363393532
|
|
NM_000138.5(FBN1):c.1200A>G (p.Glu400=)
|
|
|
NM_000138.5(FBN1):c.1200del (p.Glu400fs)
|
|
|
NM_000138.5(FBN1):c.1201T>A (p.Tyr401Asn)
|
|
|
NM_000138.5(FBN1):c.1202A>G (p.Tyr401Cys)
|
rs2141331103
|
|
NM_000138.5(FBN1):c.1205C>T (p.Pro402Leu)
|
rs1597581542
|
|
NM_000138.5(FBN1):c.1211C>A (p.Pro404Gln)
|
rs779930519
|
|
NM_000138.5(FBN1):c.1211C>G (p.Pro404Arg)
|
rs779930519
|
|
NM_000138.5(FBN1):c.1211C>T (p.Pro404Leu)
|
rs779930519
|
|
NM_000138.5(FBN1):c.1211del (p.Pro404fs)
|
rs112289537
|
|
NM_000138.5(FBN1):c.1216del (p.Gly407fs)
|
rs2141331057
|
|
NM_000138.5(FBN1):c.1220del (p.Gly407fs)
|
|
|
NM_000138.5(FBN1):c.1226T>G (p.Ile409Ser)
|
|
|
NM_000138.5(FBN1):c.122G>C (p.Arg41Pro)
|
rs1890259872
|
|
NM_000138.5(FBN1):c.1231C>T (p.Pro411Ser)
|
rs2141331032
|
|
NM_000138.5(FBN1):c.1239C>T (p.Leu413=)
|
rs1308682011
|
|
NM_000138.5(FBN1):c.1245del (p.Pro416fs)
|
rs2141331000
|
|
NM_000138.5(FBN1):c.124del (p.Ala42fs)
|
rs1555407414
|
|
NM_000138.5(FBN1):c.1262C>T (p.Pro421Leu)
|
|
|
NM_000138.5(FBN1):c.1266A>T (p.Gly422=)
|
rs2141330973
|
|
NM_000138.5(FBN1):c.126C>G (p.Ala42=)
|
|
|
NM_000138.5(FBN1):c.126del (p.Lys43fs)
|
rs1566944839
|
|
NM_000138.5(FBN1):c.1270C>A (p.Gln424Lys)
|
|
|
NM_000138.5(FBN1):c.1270C>T (p.Gln424Ter)
|
rs1439533354
|
|
NM_000138.5(FBN1):c.1273A>G (p.Ile425Val)
|
|
|
NM_000138.5(FBN1):c.1278G>A (p.Pro426=)
|
rs113245313
|
|
NM_000138.5(FBN1):c.1278G>T (p.Pro426=)
|
rs113245313
|
|
NM_000138.5(FBN1):c.127A>T (p.Lys43Ter)
|
rs751270801
|
|
NM_000138.5(FBN1):c.1281C>A (p.Val427=)
|
rs759949880
|
|
NM_000138.5(FBN1):c.1281C>G (p.Val427=)
|
rs759949880
|
|
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.1286G>C (p.Arg429Pro)
|
|
|
NM_000138.5(FBN1):c.1286G>T (p.Arg429Leu)
|
rs368089138
|
|
NM_000138.5(FBN1):c.1287dup (p.Pro430fs)
|
rs1555400410
|
|
NM_000138.5(FBN1):c.1288C>A (p.Pro430Thr)
|
rs2043799392
|
|
NM_000138.5(FBN1):c.128A>C (p.Lys43Thr)
|
rs766081333
|
|
NM_000138.5(FBN1):c.1299dup (p.Tyr434fs)
|
rs2141330877
|
|
NM_000138.5(FBN1):c.1302T>A (p.Tyr434Ter)
|
rs1566916969
|
|
NM_000138.5(FBN1):c.1305G>A (p.Leu435=)
|
rs769895864
|
|
NM_000138.5(FBN1):c.1311A>G (p.Pro437=)
|
rs1253494702
|
|
NM_000138.5(FBN1):c.1313C>G (p.Ser438Cys)
|
rs2043799037
|
|
NM_000138.5(FBN1):c.1313C>T (p.Ser438Phe)
|
rs2043799037
|
|
NM_000138.5(FBN1):c.1318G>T (p.Glu440Ter)
|
rs1555400406
|
|
NM_000138.5(FBN1):c.131G>A (p.Arg44Lys)
|
rs1890259213
|
|
NM_000138.5(FBN1):c.1321C>A (p.Pro441Thr)
|
|
|
NM_000138.5(FBN1):c.1322C>T (p.Pro441Leu)
|
|
|
NM_000138.5(FBN1):c.1324C>T (p.Pro442Ser)
|
|
|
NM_000138.5(FBN1):c.1327+7A>G
|
rs529150174
|
|
NM_000138.5(FBN1):c.1328-15T>G
|
rs2043793958
|
|
NM_000138.5(FBN1):c.1328-9T>A
|
rs1209671382
|
|
NM_000138.5(FBN1):c.132A>T (p.Arg44Ser)
|
rs1890259134
|
|
NM_000138.5(FBN1):c.1335G>T (p.Leu445=)
|
|
|
NM_000138.5(FBN1):c.1335dup (p.Pro446fs)
|
rs730880356
|
|
NM_000138.5(FBN1):c.1338del (p.Pro446_Val447insTer)
|
|
|
NM_000138.5(FBN1):c.133A>G (p.Arg45Gly)
|
rs1597652333
|
|
NM_000138.5(FBN1):c.135A>G (p.Arg45=)
|
rs2140787554
|
|
NM_000138.5(FBN1):c.1360C>T (p.Gln454Ter)
|
rs1555400387
|
|
NM_000138.5(FBN1):c.1369C>T (p.Arg457Cys)
|
rs2141330047
|
|
NM_000138.5(FBN1):c.1378T>A (p.Cys460Ser)
|
rs1597581005
|
|
NM_000138.5(FBN1):c.1379G>A (p.Cys460Tyr)
|
rs1597581001
|
|
NM_000138.5(FBN1):c.1390C>A (p.Arg464Ser)
|
rs587782943
|
|
NM_000138.5(FBN1):c.1390C>T (p.Arg464Cys)
|
rs587782943
|
|
NM_000138.5(FBN1):c.1391del (p.Arg464fs)
|
rs1555400385
|
|
NM_000138.5(FBN1):c.139G>T (p.Gly47Cys)
|
rs762400500
|
|
NM_000138.5(FBN1):c.1400dup (p.Thr468fs)
|
rs1597580984
|
|
NM_000138.5(FBN1):c.1402A>G (p.Thr468Ala)
|
rs2043792730
|
|
NM_000138.5(FBN1):c.1410del (p.Ser471fs)
|
rs1555400383
|
|
NM_000138.5(FBN1):c.1415= (p.Tyr472=)
|
rs113936729
|
|
NM_000138.5(FBN1):c.1418G>A (p.Arg473Gln)
|
|
|
NM_000138.5(FBN1):c.1420T>G (p.Cys474Gly)
|
rs1555400380
|
|
NM_000138.5(FBN1):c.1421G>T (p.Cys474Phe)
|
rs794728166
|
|
NM_000138.5(FBN1):c.1422del (p.Cys474fs)
|
rs1555400379
|
|
NM_000138.5(FBN1):c.1426T>C (p.Cys476Arg)
|
rs794728326
|
|
NM_000138.5(FBN1):c.1426T>G (p.Cys476Gly)
|
rs794728326
|
|
NM_000138.5(FBN1):c.1427G>A (p.Cys476Tyr)
|
rs2043792070
|
|
NM_000138.5(FBN1):c.1428C>G (p.Cys476Trp)
|
|
|
NM_000138.5(FBN1):c.1436G>A (p.Gly479Glu)
|
rs1247260475
|
|
NM_000138.5(FBN1):c.143G>A (p.Gly48Glu)
|
|
|
NM_000138.5(FBN1):c.1443dup (p.Leu482fs)
|
|
|
NM_000138.5(FBN1):c.1448A>C (p.Asp483Ala)
|
|
|
NM_000138.5(FBN1):c.1453C>T (p.Arg485Cys)
|
rs137854485
|
|
NM_000138.5(FBN1):c.1457G>A (p.Gly486Glu)
|
rs1597580913
|
|
NM_000138.5(FBN1):c.1461G>A (p.Glu487=)
|
|
|
NM_000138.5(FBN1):c.1462T>C (p.Cys488Arg)
|
rs1555400373
|
|
NM_000138.5(FBN1):c.1462T>G (p.Cys488Gly)
|
rs1555400373
|
|
NM_000138.5(FBN1):c.1463G>A (p.Cys488Tyr)
|
rs1555400372
|
|
NM_000138.5(FBN1):c.1463G>T (p.Cys488Phe)
|
rs1555400372
|
|
NM_000138.5(FBN1):c.1464dup (p.Ile489fs)
|
|
|
NM_000138.5(FBN1):c.1468+12A>G
|
|
|
NM_000138.5(FBN1):c.1468+12A>T
|
|
|
NM_000138.5(FBN1):c.1468+15C>T
|
rs762023380
|
|
NM_000138.5(FBN1):c.1468+19G>A
|
|
|
NM_000138.5(FBN1):c.1468+1G>A
|
rs2141329822
|
|
NM_000138.5(FBN1):c.1468+1G>C
|
|
|
NM_000138.5(FBN1):c.1468+1G>T
|
|
|
NM_000138.5(FBN1):c.1468+2T>C
|
rs794728167
|
|
NM_000138.5(FBN1):c.1468+2T>G
|
rs794728167
|
|
NM_000138.5(FBN1):c.1468+4C>A
|
rs765579667
|
|
NM_000138.5(FBN1):c.1468+5G>A
|
rs397515757
|
|
NM_000138.5(FBN1):c.1468+5del
|
|
|
NM_000138.5(FBN1):c.1468G>A (p.Asp490Asn)
|
rs1555400371
|
|
NM_000138.5(FBN1):c.1468G>T (p.Asp490Tyr)
|
rs1555400371
|
|
NM_000138.5(FBN1):c.1469-10T>C
|
|
|
NM_000138.5(FBN1):c.1469-14A>T
|
rs2043779369
|
|
NM_000138.5(FBN1):c.1469-2_1470dup
|
rs1597580040
|
|
NM_000138.5(FBN1):c.1469-5T>G
|
rs1060504144
|
|
NM_000138.5(FBN1):c.1469-6T>G
|
|
|
NM_000138.5(FBN1):c.146G>C (p.Gly49Ala)
|
rs1382204819
|
|
NM_000138.5(FBN1):c.1472T>C (p.Val491Ala)
|
rs2043779139
|
|
NM_000138.5(FBN1):c.1476T>C (p.Asp492=)
|
rs758967612
|
|
NM_000138.5(FBN1):c.1479del (p.Glu493fs)
|
|
|
NM_000138.5(FBN1):c.1480T>C (p.Cys494Arg)
|
|
|
NM_000138.5(FBN1):c.1481G>A (p.Cys494Tyr)
|
rs1057518881
|
|
NM_000138.5(FBN1):c.1481G>C (p.Cys494Ser)
|
rs1057518881
|
|
NM_000138.5(FBN1):c.1482T>G (p.Cys494Trp)
|
|
|
NM_000138.5(FBN1):c.1485dup (p.Lys496fs)
|
|
|
NM_000138.5(FBN1):c.1490del (p.Asn497fs)
|
|
|
NM_000138.5(FBN1):c.1494del (p.Cys499fs)
|
|
|
NM_000138.5(FBN1):c.1495T>A (p.Cys499Ser)
|
rs2043778680
|
|
NM_000138.5(FBN1):c.1495T>C (p.Cys499Arg)
|
|
|
NM_000138.5(FBN1):c.1495T>G (p.Cys499Gly)
|
rs2043778680
|
|
NM_000138.5(FBN1):c.1496G>A (p.Cys499Tyr)
|
rs587782944
|
|
NM_000138.5(FBN1):c.1498G>C (p.Ala500Pro)
|
rs886044236
|
|
NM_000138.5(FBN1):c.1502G>T (p.Gly501Val)
|
|
|
NM_000138.5(FBN1):c.1504G>T (p.Gly502Cys)
|
rs762111810
|
|
NM_000138.5(FBN1):c.1505del (p.Gly502fs)
|
rs2141327834
|
|
NM_000138.5(FBN1):c.1506T>C (p.Gly502=)
|
rs770426679
|
|
NM_000138.5(FBN1):c.150C>T (p.His50=)
|
rs1597652302
|
|
NM_000138.5(FBN1):c.1510T>A (p.Cys504Ser)
|
rs1555400288
|
|
NM_000138.5(FBN1):c.1510T>C (p.Cys504Arg)
|
rs1555400288
|
|
NM_000138.5(FBN1):c.1511G>A (p.Cys504Tyr)
|
rs1156747241
|
|
NM_000138.5(FBN1):c.1513A>G (p.Ile505Val)
|
rs2043778389
|
|
NM_000138.5(FBN1):c.1513_1520del (p.Ile505fs)
|
rs2141327809
|
|
NM_000138.5(FBN1):c.1520del (p.Asn507fs)
|
|
|
NM_000138.5(FBN1):c.1522C>T (p.Gln508Ter)
|
rs1057521859
|
|
NM_000138.5(FBN1):c.1523_1525del (p.Gln508_Gly509delinsArg)
|
|
|
NM_000138.5(FBN1):c.1524G>A (p.Gln508=)
|
|
|
NM_000138.5(FBN1):c.1524G>C (p.Gln508His)
|
rs1566916256
|
|
NM_000138.5(FBN1):c.1525G>T (p.Gly509Cys)
|
rs1060501073
|
|
NM_000138.5(FBN1):c.1526G>A (p.Gly509Asp)
|
|
|
NM_000138.5(FBN1):c.1526del (p.Gly509fs)
|
|
|
NM_000138.5(FBN1):c.1530G>A (p.Ser510=)
|
rs147511977
|
|
NM_000138.5(FBN1):c.1530G>T (p.Ser510=)
|
rs147511977
|
|
NM_000138.5(FBN1):c.1535C>T (p.Thr512Ile)
|
rs1555400280
|
|
NM_000138.5(FBN1):c.1536C>T (p.Thr512=)
|
rs1178360874
|
|
NM_000138.5(FBN1):c.1537T>C (p.Cys513Arg)
|
rs1555400279
|
|
NM_000138.5(FBN1):c.1537dup (p.Cys513fs)
|
rs1597579948
|
|
NM_000138.5(FBN1):c.1538G>C (p.Cys513Ser)
|
rs1060501036
|
|
NM_000138.5(FBN1):c.1538G>T (p.Cys513Phe)
|
rs1060501036
|
|
NM_000138.5(FBN1):c.153C>A (p.Asp51Glu)
|
rs1057524406
|
|
NM_000138.5(FBN1):c.1540C>T (p.Gln514Ter)
|
rs2141327746
|
|
NM_000138.5(FBN1):c.1542G>A (p.Gln514=)
|
|
|
NM_000138.5(FBN1):c.1546C>T (p.Arg516Ter)
|
rs113812345
|
|
NM_000138.5(FBN1):c.1552G>T (p.Gly518Ter)
|
rs794728168
|
|
NM_000138.5(FBN1):c.1553G>T (p.Gly518Val)
|
rs794728169
|
|
NM_000138.5(FBN1):c.1556A>G (p.Tyr519Cys)
|
rs1555400278
|
|
NM_000138.5(FBN1):c.1558C>T (p.Gln520Ter)
|
rs1597579923
|
|
NM_000138.5(FBN1):c.155_156delinsTT (p.Ala52Val)
|
rs2140787437
|
|
NM_000138.5(FBN1):c.1560G>A (p.Gln520=)
|
|
|
NM_000138.5(FBN1):c.1561_1562del (p.Ser521fs)
|
rs397515758
|
|
NM_000138.5(FBN1):c.1566A>T (p.Thr522=)
|
rs531264662
|
|
NM_000138.5(FBN1):c.1570_1571del (p.Thr524fs)
|
rs2043777735
|
|
NM_000138.5(FBN1):c.1570dup (p.Thr524fs)
|
rs1555400274
|
|
NM_000138.5(FBN1):c.1571del (p.Thr524fs)
|
rs886038817
|
|
NM_000138.5(FBN1):c.1572del (p.Arg525fs)
|
rs1060501096
|
|
NM_000138.5(FBN1):c.1573C>T (p.Arg525Trp)
|
rs768253008
|
|
NM_000138.5(FBN1):c.1575del (p.Thr526fs)
|
rs1555400268
|
|
NM_000138.5(FBN1):c.1576del (p.Thr526fs)
|
|
|
NM_000138.5(FBN1):c.1579G>T (p.Glu527Ter)
|
rs1555400267
|
|
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.1588+16C>T
|
|
|
NM_000138.5(FBN1):c.1588+1G>A
|
rs2141327634
|
|
NM_000138.5(FBN1):c.1588+20C>A
|
|
|
NM_000138.5(FBN1):c.1588+20C>G
|
|
|
NM_000138.5(FBN1):c.1588+9C>G
|
rs757843637
|
|
NM_000138.5(FBN1):c.1589-1217G>T
|
|
|
NM_000138.5(FBN1):c.1589-12C>G
|
|
|
NM_000138.5(FBN1):c.1589-14A>G
|
rs1566915335
|
|
NM_000138.5(FBN1):c.1589-1G>A
|
rs1555400077
|
|
NM_000138.5(FBN1):c.1589-1G>C
|
|
|
NM_000138.5(FBN1):c.1589-20T>G
|
|
|
NM_000138.5(FBN1):c.1589-5T>C
|
rs1371798538
|
|
NM_000138.5(FBN1):c.1589-7A>T
|
rs1467162544
|
|
NM_000138.5(FBN1):c.1589-8G>T
|
rs779629563
|
|
NM_000138.5(FBN1):c.1589A>G (p.Asp530Gly)
|
rs794728171
|
|
NM_000138.5(FBN1):c.1589A>T (p.Asp530Val)
|
|
|
NM_000138.5(FBN1):c.1595A>G (p.Asp532Gly)
|
rs745422205
|
|
NM_000138.5(FBN1):c.1597G>T (p.Glu533Ter)
|
|
|
NM_000138.5(FBN1):c.1599G>A (p.Glu533=)
|
|
|
NM_000138.5(FBN1):c.1600T>G (p.Cys534Gly)
|
|
|
NM_000138.5(FBN1):c.1601G>A (p.Cys534Tyr)
|
rs397515759
|
|
NM_000138.5(FBN1):c.1601G>C (p.Cys534Ser)
|
rs397515759
|
|
NM_000138.5(FBN1):c.1603T>G (p.Leu535Val)
|
|
|
NM_000138.5(FBN1):c.1606C>T (p.Gln536Ter)
|
rs1479709398
|
|
NM_000138.5(FBN1):c.1614C>T (p.Gly538=)
|
rs2141323481
|
|
NM_000138.5(FBN1):c.1616G>A (p.Arg539Gln)
|
|
|
NM_000138.5(FBN1):c.1617del (p.Ile540fs)
|
rs1555400066
|
|
NM_000138.5(FBN1):c.1621T>G (p.Cys541Gly)
|
rs111396594
|
|
NM_000138.5(FBN1):c.1622G>A (p.Cys541Tyr)
|
rs1555400064
|
|
NM_000138.5(FBN1):c.1622G>T (p.Cys541Phe)
|
rs1555400064
|
|
NM_000138.5(FBN1):c.1625A>G (p.Asn542Ser)
|
rs963564435
|
|
NM_000138.5(FBN1):c.1628A>T (p.Asn543Ile)
|
rs1060501098
|
|
NM_000138.5(FBN1):c.1630G>A (p.Gly544Arg)
|
rs1555400063
|
|
NM_000138.5(FBN1):c.1630G>C (p.Gly544Arg)
|
rs1555400063
|
|
NM_000138.5(FBN1):c.1633C>T (p.Arg545Cys)
|
rs730880099
|
|
NM_000138.5(FBN1):c.1634G>C (p.Arg545Pro)
|
rs193922179
|
|
NM_000138.5(FBN1):c.1636T>C (p.Cys546Arg)
|
rs1555400062
|
|
NM_000138.5(FBN1):c.1637G>A (p.Cys546Tyr)
|
|
|
NM_000138.5(FBN1):c.1638C>A (p.Cys546Ter)
|
rs2141323411
|
|
NM_000138.5(FBN1):c.1639A>C (p.Ile547Leu)
|
|
|
NM_000138.5(FBN1):c.164+13G>T
|
|
|
NM_000138.5(FBN1):c.164+16C>T
|
|
|
NM_000138.5(FBN1):c.164+1G>A
|
rs794728213
|
|
NM_000138.5(FBN1):c.164+1G>T
|
rs794728213
|
|
NM_000138.5(FBN1):c.164+1del
|
rs1555407399
|
|
NM_000138.5(FBN1):c.164+2T>C
|
rs727503058
|
|
NM_000138.5(FBN1):c.164+3A>C
|
rs1597652265
|
|
NM_000138.5(FBN1):c.164+3A>G
|
|
|
NM_000138.5(FBN1):c.1640T>A (p.Ile547Asn)
|
rs112269822
|
|
NM_000138.5(FBN1):c.1641C>A (p.Ile547=)
|
rs2141323402
|
|
NM_000138.5(FBN1):c.1643A>T (p.Asn548Ile)
|
rs137854462
|
|
NM_000138.5(FBN1):c.1646_1649delinsGT (p.Thr549fs)
|
rs1597577975
|
|
NM_000138.5(FBN1):c.164G>A (p.Gly55Glu)
|
rs2140787387
|
|
NM_000138.5(FBN1):c.165-14T>A
|
|
|
NM_000138.5(FBN1):c.165-1G>C
|
|
|
NM_000138.5(FBN1):c.165-2A>C
|
rs754351718
|
|
NM_000138.5(FBN1):c.165-32del
|
rs193922180
|
|
NM_000138.5(FBN1):c.165-3del
|
rs1436066063
|
|
NM_000138.5(FBN1):c.165-46CTT[2]
|
rs386134232
|
|
NM_000138.5(FBN1):c.165-8T>G
|
rs750029122
|
|
NM_000138.5(FBN1):c.1657T>A (p.Phe553Ile)
|
rs2043746162
|
|
NM_000138.5(FBN1):c.1659del (p.His554fs)
|
rs1566915277
|
|
NM_000138.5(FBN1):c.1661A>C (p.His554Pro)
|
|
|
NM_000138.5(FBN1):c.1662T>C (p.His554=)
|
|
|
NM_000138.5(FBN1):c.1663T>C (p.Cys555Arg)
|
rs2043746138
|
|
NM_000138.5(FBN1):c.1664G>A (p.Cys555Tyr)
|
rs794728172
|
|
NM_000138.5(FBN1):c.1664G>T (p.Cys555Phe)
|
rs794728172
|
|
NM_000138.5(FBN1):c.1665C>A (p.Cys555Ter)
|
rs531101773
|
|
NM_000138.5(FBN1):c.1665C>G (p.Cys555Trp)
|
rs531101773
|
|
NM_000138.5(FBN1):c.1666G>A (p.Val556Met)
|
rs1239988676
|
|
NM_000138.5(FBN1):c.1667_1677del (p.Val556fs)
|
|
|
NM_000138.5(FBN1):c.1669T>C (p.Cys557Arg)
|
rs2141323348
|
|
NM_000138.5(FBN1):c.1669_1677dup (p.Cys557_Ala559dup)
|
rs193922181
|
|
NM_000138.5(FBN1):c.1670G>A (p.Cys557Tyr)
|
rs1057521102
|
|
NM_000138.5(FBN1):c.1670G>T (p.Cys557Phe)
|
rs1057521102
|
|
NM_000138.5(FBN1):c.1671T>G (p.Cys557Trp)
|
rs2141323336
|
|
NM_000138.5(FBN1):c.1674T>C (p.Asn558=)
|
rs2141323328
|
|
NM_000138.5(FBN1):c.1678G>A (p.Gly560Ser)
|
rs1064794283
|
|
NM_000138.5(FBN1):c.1678G>T (p.Gly560Cys)
|
rs1064794283
|
|
NM_000138.5(FBN1):c.1679G>A (p.Gly560Asp)
|
rs1555400052
|
|
NM_000138.5(FBN1):c.1679G>T (p.Gly560Val)
|
rs1555400052
|
|
NM_000138.5(FBN1):c.1690dup (p.Thr564fs)
|
|
|
NM_000138.5(FBN1):c.1693C>G (p.Arg565Gly)
|
|
|
NM_000138.5(FBN1):c.169A>G (p.Asn57Asp)
|
rs2044669685
|
|
NM_000138.5(FBN1):c.1708T>C (p.Cys570Arg)
|
rs113902534
|
|
NM_000138.5(FBN1):c.1709G>A (p.Cys570Tyr)
|
rs1555400049
|
|
NM_000138.5(FBN1):c.1709G>C (p.Cys570Ser)
|
rs1555400049
|
|
NM_000138.5(FBN1):c.1709del (p.Cys570fs)
|
rs193922182
|
|
NM_000138.5(FBN1):c.170A>G (p.Asn57Ser)
|
rs2044669666
|
|
NM_000138.5(FBN1):c.1710T>G (p.Cys570Trp)
|
rs193922183
|
|
NM_000138.5(FBN1):c.1713A>G (p.Glu571=)
|
|
|
NM_000138.5(FBN1):c.1714+11T>C
|
|
|
NM_000138.5(FBN1):c.1714+13T>A
|
|
|
NM_000138.5(FBN1):c.1714+14A>G
|
|
|
NM_000138.5(FBN1):c.1714+1G>T
|
rs2043745437
|
|
NM_000138.5(FBN1):c.1714+2T>C
|
rs2141323212
|
|
NM_000138.5(FBN1):c.1714+2del
|
rs876657645
|
|
NM_000138.5(FBN1):c.1714+4A>G
|
rs1189850321
|
|
NM_000138.5(FBN1):c.1714+5T>C
|
rs2043745384
|
|
NM_000138.5(FBN1):c.1714+7A>G
|
|
|
NM_000138.5(FBN1):c.1714G>A (p.Asp572Asn)
|
rs2141323230
|
|
NM_000138.5(FBN1):c.1715-10G>A
|
rs764128146
|
|
NM_000138.5(FBN1):c.1715-15G>A
|
|
|
NM_000138.5(FBN1):c.1715-17A>G
|
|
|
NM_000138.5(FBN1):c.1715-1G>A
|
rs1555399977
|
|
NM_000138.5(FBN1):c.1715-2A>G
|
rs2043733370
|
|
NM_000138.5(FBN1):c.1715-8A>G
|
rs1555399978
|
|
NM_000138.5(FBN1):c.1715-9T>A
|
rs1057520813
|
|
NM_000138.5(FBN1):c.1715-9T>C
|
|
|
NM_000138.5(FBN1):c.1715A>G (p.Asp572Gly)
|
rs1555399976
|
|
NM_000138.5(FBN1):c.1715A>T (p.Asp572Val)
|
rs1555399976
|
|
NM_000138.5(FBN1):c.1717A>G (p.Met573Val)
|
|
|
NM_000138.5(FBN1):c.1720del (p.Asp574fs)
|
rs2141321697
|
|
NM_000138.5(FBN1):c.1723G>A (p.Glu575Lys)
|
rs1259811604
|
|
NM_000138.5(FBN1):c.1726T>A (p.Cys576Ser)
|
rs794728174
|
|
NM_000138.5(FBN1):c.1726T>G (p.Cys576Gly)
|
rs794728174
|
|
NM_000138.5(FBN1):c.1727G>A (p.Cys576Tyr)
|
rs1555399974
|
|
NM_000138.5(FBN1):c.1728C>G (p.Cys576Trp)
|
rs2043733087
|
|
NM_000138.5(FBN1):c.1732A>G (p.Ile578Val)
|
|
|
NM_000138.5(FBN1):c.1733T>G (p.Ile578Arg)
|
|
|
NM_000138.5(FBN1):c.1737del (p.Asn580fs)
|
|
|
NM_000138.5(FBN1):c.1741A>G (p.Met581Val)
|
|
|
NM_000138.5(FBN1):c.1744T>C (p.Cys582Arg)
|
rs2141321636
|
|
NM_000138.5(FBN1):c.1744T>G (p.Cys582Gly)
|
|
|
NM_000138.5(FBN1):c.1744_1745del (p.Cys582fs)
|
rs869025420
|
|
NM_000138.5(FBN1):c.1745G>A (p.Cys582Tyr)
|
rs2141321627
|
|
NM_000138.5(FBN1):c.1753G>A (p.Gly585Arg)
|
rs1085307528
|
|
NM_000138.5(FBN1):c.1754G>A (p.Gly585Glu)
|
rs1060501041
|
|
NM_000138.5(FBN1):c.1754G>C (p.Gly585Ala)
|
rs1060501041
|
|
NM_000138.5(FBN1):c.1759T>C (p.Cys587Arg)
|
rs1555399968
|
|
NM_000138.5(FBN1):c.1759T>G (p.Cys587Gly)
|
rs1555399968
|
|
NM_000138.5(FBN1):c.175T>C (p.Cys59Arg)
|
rs2140737589
|
|
NM_000138.5(FBN1):c.1760G>A (p.Cys587Tyr)
|
rs1555399963
|
|
NM_000138.5(FBN1):c.1761T>C (p.Cys587=)
|
rs1060504143
|
|
NM_000138.5(FBN1):c.1761T>G (p.Cys587Trp)
|
|
|
NM_000138.5(FBN1):c.1766A>G (p.Asn589Ser)
|
rs1555399962
|
|
NM_000138.5(FBN1):c.176G>T (p.Cys59Phe)
|
rs1555405673
|
|
NM_000138.5(FBN1):c.176del (p.Cys59fs)
|
rs1597633219
|
|
NM_000138.5(FBN1):c.1775G>A (p.Gly592Asp)
|
rs1555399959
|
|
NM_000138.5(FBN1):c.1782_1783insSVAelement
|
|
|
NM_000138.5(FBN1):c.1782del (p.Phe594fs)
|
rs1597577114
|
|
NM_000138.5(FBN1):c.1786T>C (p.Cys596Arg)
|
rs1057520131
|
|
NM_000138.5(FBN1):c.1786T>G (p.Cys596Gly)
|
rs1057520131
|
|
NM_000138.5(FBN1):c.1787G>A (p.Cys596Tyr)
|
rs2043732180
|
|
NM_000138.5(FBN1):c.1788T>A (p.Cys596Ter)
|
rs2141321569
|
|
NM_000138.5(FBN1):c.1791T>C (p.Ile597=)
|
|
|
NM_000138.5(FBN1):c.1792T>C (p.Cys598Arg)
|
|
|
NM_000138.5(FBN1):c.1792T>G (p.Cys598Gly)
|
rs2141321553
|
|
NM_000138.5(FBN1):c.1792del (p.Cys598fs)
|
rs2141321558
|
|
NM_000138.5(FBN1):c.1793G>A (p.Cys598Tyr)
|
rs1555399955
|
|
NM_000138.5(FBN1):c.1793G>C (p.Cys598Ser)
|
rs1555399955
|
|
NM_000138.5(FBN1):c.1793G>T (p.Cys598Phe)
|
rs1555399955
|
|
NM_000138.5(FBN1):c.1794C>G (p.Cys598Trp)
|
rs1555399954
|
|
NM_000138.5(FBN1):c.1801G>T (p.Gly601Ter)
|
rs1555399953
|
|
NM_000138.5(FBN1):c.1805T>C (p.Phe602Ser)
|
rs1555399952
|
|
NM_000138.5(FBN1):c.1805T>G (p.Phe602Cys)
|
|
|
NM_000138.5(FBN1):c.1809del (p.Gln603fs)
|
|
|
NM_000138.5(FBN1):c.1815A>G (p.Ala605=)
|
rs2141321499
|
|
NM_000138.5(FBN1):c.1817C>G (p.Ser606Ter)
|
rs794728176
|
|
NM_000138.5(FBN1):c.1822G>T (p.Gly608Ter)
|
|
|
NM_000138.5(FBN1):c.1823G>A (p.Gly608Glu)
|
rs368283028
|
|
NM_000138.5(FBN1):c.1823del (p.Gly608fs)
|
rs1555399949
|
|
NM_000138.5(FBN1):c.182C>G (p.Ser61Ter)
|
|
|
NM_000138.5(FBN1):c.1830T>C (p.Tyr610=)
|
rs1247219658
|
|
NM_000138.5(FBN1):c.1831T>C (p.Cys611Arg)
|
rs1555399944
|
|
NM_000138.5(FBN1):c.1832G>A (p.Cys611Tyr)
|
|
|
NM_000138.5(FBN1):c.1835A>G (p.Lys612Arg)
|
|
|
NM_000138.5(FBN1):c.1836_1837+2delinsGGG
|
rs2043731288
|
|
NM_000138.5(FBN1):c.1837+12A>G
|
|
|
NM_000138.5(FBN1):c.1837+1G>A
|
rs397515762
|
|
NM_000138.5(FBN1):c.1837+1G>T
|
rs397515762
|
|
NM_000138.5(FBN1):c.1837+2T>C
|
rs1555399940
|
|
NM_000138.5(FBN1):c.1837+5G>A
|
rs1445085747
|
|
NM_000138.5(FBN1):c.1837G>A (p.Asp613Asn)
|
rs1555399943
|
|
NM_000138.5(FBN1):c.1838-17G>A
|
|
|
NM_000138.5(FBN1):c.1838-17G>T
|
|
|
NM_000138.5(FBN1):c.1838-1G>A
|
rs1555399840
|
|
NM_000138.5(FBN1):c.1838-2A>G
|
rs2141317516
|
|
NM_000138.5(FBN1):c.1843_1845del (p.Asn615del)
|
rs1555399837
|
|
NM_000138.5(FBN1):c.1846G>A (p.Glu616Lys)
|
rs397515764
|
|
NM_000138.5(FBN1):c.1846G>C (p.Glu616Gln)
|
|
|
NM_000138.5(FBN1):c.1847A>G (p.Glu616Gly)
|
rs25457
|
|
NM_000138.5(FBN1):c.1847del (p.Glu616fs)
|
rs2141317487
|
|
NM_000138.5(FBN1):c.1849T>C (p.Cys617Arg)
|
rs1060501017
|
|
NM_000138.5(FBN1):c.1849T>G (p.Cys617Gly)
|
rs1060501017
|
|
NM_000138.5(FBN1):c.1849_1851del (p.Cys617del)
|
rs2141317465
|
|
NM_000138.5(FBN1):c.184C>T (p.Arg62Cys)
|
rs25403
|
|
NM_000138.5(FBN1):c.1850G>A (p.Cys617Tyr)
|
rs1555399836
|
|
NM_000138.5(FBN1):c.1850G>C (p.Cys617Ser)
|
rs1555399836
|
|
NM_000138.5(FBN1):c.1855del (p.Thr619fs)
|
rs2141317454
|
|
NM_000138.5(FBN1):c.1859del (p.Pro620fs)
|
|
|
NM_000138.5(FBN1):c.1860del (p.Ile622fs)
|
rs2141317442
|
|
NM_000138.5(FBN1):c.1862G>A (p.Gly621Glu)
|
rs1555399833
|
|
NM_000138.5(FBN1):c.1867_1868delinsCT (p.Cys623Leu)
|
rs2043697829
|
|
NM_000138.5(FBN1):c.1868G>A (p.Cys623Tyr)
|
rs1566914030
|
|
NM_000138.5(FBN1):c.1871T>C (p.Met624Thr)
|
rs1597575080
|
|
NM_000138.5(FBN1):c.1871T>G (p.Met624Arg)
|
rs1597575080
|
|
NM_000138.5(FBN1):c.1875_1876inv (p.Gly626Arg)
|
|
|
NM_000138.5(FBN1):c.1881_1883inv (p.Cys628Asn)
|
|
|
NM_000138.5(FBN1):c.1882T>C (p.Cys628Arg)
|
rs2141317350
|
|
NM_000138.5(FBN1):c.1883G>A (p.Cys628Tyr)
|
rs1555399825
|
|
NM_000138.5(FBN1):c.1883G>T (p.Cys628Phe)
|
rs1555399825
|
|
NM_000138.5(FBN1):c.1884C>G (p.Cys628Trp)
|
rs150421653
|
|
NM_000138.5(FBN1):c.1888A>C (p.Asn630His)
|
rs1555399821
|
|
NM_000138.5(FBN1):c.1888A>T (p.Asn630Tyr)
|
rs1555399821
|
|
NM_000138.5(FBN1):c.188A>G (p.Tyr63Cys)
|
rs1303389437
|
|
NM_000138.5(FBN1):c.1891A>C (p.Thr631Pro)
|
rs2043697314
|
|
NM_000138.5(FBN1):c.1897G>T (p.Gly633Cys)
|
rs2141317297
|
|
NM_000138.5(FBN1):c.189T>G (p.Tyr63Ter)
|
rs1597633183
|
|
NM_000138.5(FBN1):c.1900T>C (p.Ser634Pro)
|
rs1566914005
|
|
NM_000138.5(FBN1):c.1904A>G (p.Tyr635Cys)
|
rs1555399816
|
|
NM_000138.5(FBN1):c.1908A>G (p.Arg636=)
|
rs886039089
|
|
NM_000138.5(FBN1):c.1908A>T (p.Arg636Ser)
|
|
|
NM_000138.5(FBN1):c.1909T>C (p.Cys637Arg)
|
rs869025404
|
|
NM_000138.5(FBN1):c.1910G>A (p.Cys637Tyr)
|
rs1478695794
|
|
NM_000138.5(FBN1):c.1910G>C (p.Cys637Ser)
|
rs1478695794
|
|
NM_000138.5(FBN1):c.1912G>A (p.Glu638Lys)
|
rs2141317254
|
|
NM_000138.5(FBN1):c.1915T>A (p.Cys639Ser)
|
rs1060501078
|
|
NM_000138.5(FBN1):c.1915T>C (p.Cys639Arg)
|
rs1060501078
|
|
NM_000138.5(FBN1):c.1916G>A (p.Cys639Tyr)
|
rs878853676
|
|
NM_000138.5(FBN1):c.1916G>T (p.Cys639Phe)
|
rs878853676
|
|
NM_000138.5(FBN1):c.1916_1917delinsTG (p.Cys639Leu)
|
rs2043696899
|
|
NM_000138.5(FBN1):c.1928T>G (p.Leu643Arg)
|
rs1555399813
|
|
NM_000138.5(FBN1):c.1929_1930delinsTT (p.Ala644Ser)
|
rs1555399812
|
|
NM_000138.5(FBN1):c.192T>C (p.Asn64=)
|
|
|
NM_000138.5(FBN1):c.1936_1951dup (p.Val651fs)
|
rs2141317141
|
|
NM_000138.5(FBN1):c.1939C>G (p.Leu647Val)
|
|
|
NM_000138.5(FBN1):c.1940T>C (p.Leu647Pro)
|
rs1566913983
|
|
NM_000138.5(FBN1):c.1942del (p.Asp648fs)
|
|
|
NM_000138.5(FBN1):c.1944T>A (p.Asp648Glu)
|
rs2141317175
|
|
NM_000138.5(FBN1):c.1947C>T (p.Gly649=)
|
rs2141317155
|
|
NM_000138.5(FBN1):c.1948C>T (p.Arg650Cys)
|
rs193922185
|
|
NM_000138.5(FBN1):c.1948del (p.Arg650fs)
|
rs1566913982
|
|
NM_000138.5(FBN1):c.1948dup (p.Arg650fs)
|
rs1566913982
|
|
NM_000138.5(FBN1):c.1954T>C (p.Cys652Arg)
|
rs2043696438
|
|
NM_000138.5(FBN1):c.1955G>A (p.Cys652Tyr)
|
rs2043696418
|
|
NM_000138.5(FBN1):c.1956T>G (p.Cys652Trp)
|
rs1566913974
|
|
NM_000138.5(FBN1):c.1957_1958dup (p.Asp654fs)
|
rs886041350
|
|
NM_000138.5(FBN1):c.195T>C (p.Ala65=)
|
rs759873157
|
|
NM_000138.5(FBN1):c.1960+14A>G
|
|
|
NM_000138.5(FBN1):c.1960+15T>C
|
|
|
NM_000138.5(FBN1):c.1960+1G>C
|
rs1555399804
|
|
NM_000138.5(FBN1):c.1960+2T>C
|
rs1555399802
|
|
NM_000138.5(FBN1):c.1960+6A>T
|
rs1200860234
|
|
NM_000138.5(FBN1):c.1960+9A>G
|
|
|
NM_000138.5(FBN1):c.1960G>A (p.Asp654Asn)
|
|
|
NM_000138.5(FBN1):c.1960G>C (p.Asp654His)
|
rs1566913969
|
|
NM_000138.5(FBN1):c.1961-18A>G
|
|
|
NM_000138.5(FBN1):c.1961-1G>A
|
rs2043686634
|
|
NM_000138.5(FBN1):c.1961-3T>C
|
|
|
NM_000138.5(FBN1):c.1961-5T>C
|
rs919746497
|
|
NM_000138.5(FBN1):c.1962C>T (p.Asp654=)
|
|
|
NM_000138.5(FBN1):c.1962_1981delinsAG (p.Asp654_Cys661delinsGluGly)
|
rs1597574308
|
|
NM_000138.5(FBN1):c.1963A>G (p.Thr655Ala)
|
|
|
NM_000138.5(FBN1):c.1964C>T (p.Thr655Ile)
|
|
|
NM_000138.5(FBN1):c.1967A>G (p.His656Arg)
|
rs1555399777
|
|
NM_000138.5(FBN1):c.1968_1969del (p.Met657fs)
|
rs1555399775
|
|
NM_000138.5(FBN1):c.1969_1970del (p.Met657fs)
|
rs2141315944
|
|
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.197A>G (p.Tyr66Cys)
|
rs774371494
|
|
NM_000138.5(FBN1):c.197A>T (p.Tyr66Phe)
|
|
|
NM_000138.5(FBN1):c.1980A>G (p.Thr660=)
|
rs531454879
|
|
NM_000138.5(FBN1):c.1981dup (p.Cys661fs)
|
rs2043686222
|
|
NM_000138.5(FBN1):c.1982G>A (p.Cys661Tyr)
|
rs1060501086
|
|
NM_000138.5(FBN1):c.1983C>G (p.Cys661Trp)
|
rs765018527
|
|
NM_000138.5(FBN1):c.1984T>G (p.Tyr662Asp)
|
|
|
NM_000138.5(FBN1):c.198C>G (p.Tyr66Ter)
|
rs2044669179
|
|
NM_000138.5(FBN1):c.198C>T (p.Tyr66=)
|
rs2044669179
|
|
NM_000138.5(FBN1):c.1992A>C (p.Gly664=)
|
|
|
NM_000138.5(FBN1):c.1995C>A (p.Tyr665Ter)
|
rs2141315893
|
|
NM_000138.5(FBN1):c.1995C>G (p.Tyr665Ter)
|
rs2141315893
|
|
NM_000138.5(FBN1):c.1998G>A (p.Lys666=)
|
|
|
NM_000138.5(FBN1):c.1999A>T (p.Arg667Ter)
|
rs2043685929
|
|
NM_000138.5(FBN1):c.199T>C (p.Cys67Arg)
|
rs2140737496
|
|
NM_000138.5(FBN1):c.1A>C (p.Met1Leu)
|
rs730880097
|
|
NM_000138.5(FBN1):c.1A>G (p.Met1Val)
|
rs730880097
|
|
NM_000138.5(FBN1):c.1A>T (p.Met1Leu)
|
rs730880097
|
|
NM_000138.5(FBN1):c.2003delinsTGTAT (p.Gly668fs)
|
rs1555399770
|
|
NM_000138.5(FBN1):c.2004C>T (p.Gly668=)
|
|
|
NM_000138.5(FBN1):c.2005C>T (p.Gln669Ter)
|
|
|
NM_000138.5(FBN1):c.2006A>C (p.Gln669Pro)
|
|
|
NM_000138.5(FBN1):c.2007G>A (p.Gln669=)
|
|
|
NM_000138.5(FBN1):c.2009_2018delinsTTGGTGCT (p.Cys670fs)
|
|
|
NM_000138.5(FBN1):c.200G>T (p.Cys67Phe)
|
rs2044669166
|
|
NM_000138.5(FBN1):c.201_203dup (p.Cys68dup)
|
rs1555405664
|
|
NM_000138.5(FBN1):c.2021del (p.Leu674fs)
|
|
|
NM_000138.5(FBN1):c.2022G>A (p.Leu674=)
|
|
|
NM_000138.5(FBN1):c.2022G>C (p.Leu674Phe)
|
rs794728182
|
|
NM_000138.5(FBN1):c.2022G>T (p.Leu674Phe)
|
rs794728182
|
|
NM_000138.5(FBN1):c.2023_2026del (p.Phe675fs)
|
rs886041349
|
|
NM_000138.5(FBN1):c.2026G>T (p.Gly676Cys)
|
rs2141315849
|
|
NM_000138.5(FBN1):c.2028_2029insA (p.Ala677fs)
|
rs1060501027
|
|
NM_000138.5(FBN1):c.202T>C (p.Cys68Arg)
|
rs113604459
|
|
NM_000138.5(FBN1):c.202dup (p.Cys68fs)
|
|
|
NM_000138.5(FBN1):c.2031T>A (p.Ala677=)
|
rs762312642
|
|
NM_000138.5(FBN1):c.2031T>C (p.Ala677=)
|
|
|
NM_000138.5(FBN1):c.2034_2052del (p.Thr679fs)
|
|
|
NM_000138.5(FBN1):c.203G>A (p.Cys68Tyr)
|
rs1597633163
|
|
NM_000138.5(FBN1):c.203G>T (p.Cys68Phe)
|
rs1597633163
|
|
NM_000138.5(FBN1):c.2044G>C (p.Glu682Gln)
|
rs908212152
|
|
NM_000138.5(FBN1):c.2049C>G (p.Cys683Trp)
|
|
|
NM_000138.5(FBN1):c.2050T>C (p.Cys684Arg)
|
rs1555399764
|
|
NM_000138.5(FBN1):c.2051G>A (p.Cys684Tyr)
|
rs1555399763
|
|
NM_000138.5(FBN1):c.2051G>C (p.Cys684Ser)
|
rs1555399763
|
|
NM_000138.5(FBN1):c.2051G>T (p.Cys684Phe)
|
rs1555399763
|
|
NM_000138.5(FBN1):c.2053T>A (p.Cys685Ser)
|
rs1597574236
|
|
NM_000138.5(FBN1):c.2053T>C (p.Cys685Arg)
|
rs1597574236
|
|
NM_000138.5(FBN1):c.2054G>A (p.Cys685Tyr)
|
rs1555399761
|
|
NM_000138.5(FBN1):c.2054dup (p.Cys685fs)
|
rs2141315799
|
|
NM_000138.5(FBN1):c.2055C>G (p.Cys685Trp)
|
rs140603
|
|
NM_000138.5(FBN1):c.2058_2063del (p.Ser687_Thr688del)
|
rs794728298
|
|
NM_000138.5(FBN1):c.2063_2064del (p.Thr688fs)
|
|
|
NM_000138.5(FBN1):c.2067G>A (p.Glu689=)
|
|
|
NM_000138.5(FBN1):c.206_208del (p.Pro69_Gly70delinsArg)
|
rs1555405660
|
|
NM_000138.5(FBN1):c.2071G>C (p.Ala691Pro)
|
rs794728183
|
|
NM_000138.5(FBN1):c.2080G>T (p.Glu694Ter)
|
rs1060501024
|
|
NM_000138.5(FBN1):c.2084C>A (p.Pro695His)
|
rs1555399754
|
|
NM_000138.5(FBN1):c.2085T>C (p.Pro695=)
|
rs2141315721
|
|
NM_000138.5(FBN1):c.2086T>G (p.Cys696Gly)
|
rs2141315718
|
|
NM_000138.5(FBN1):c.2087G>T (p.Cys696Phe)
|
rs1566913685
|
|
NM_000138.5(FBN1):c.2087del (p.Cys696fs)
|
rs2043684490
|
|
NM_000138.5(FBN1):c.2088C>A (p.Cys696Ter)
|
rs2141315709
|
|
NM_000138.5(FBN1):c.2089C>T (p.Gln697Ter)
|
rs1060501082
|
|
NM_000138.5(FBN1):c.208G>A (p.Gly70Arg)
|
rs2044669023
|
|
NM_000138.5(FBN1):c.2091G>T (p.Gln697His)
|
rs1555399752
|
|
NM_000138.5(FBN1):c.2094G>A (p.Pro698=)
|
rs144775475
|
|
NM_000138.5(FBN1):c.2096G>C (p.Cys699Ser)
|
rs2043684108
|
|
NM_000138.5(FBN1):c.2099C>T (p.Pro700Leu)
|
rs2141315649
|
|
NM_000138.5(FBN1):c.2099del (p.Pro700fs)
|
rs1597574166
|
|
NM_000138.5(FBN1):c.209G>T (p.Gly70Val)
|
|
|
NM_000138.5(FBN1):c.2100T>C (p.Pro700=)
|
|
|
NM_000138.5(FBN1):c.2103A>G (p.Ala701=)
|
rs2141315644
|
|
NM_000138.5(FBN1):c.210A>T (p.Gly70=)
|
|
|
NM_000138.5(FBN1):c.2111C>G (p.Ser704Ter)
|
rs2043683891
|
|
NM_000138.5(FBN1):c.2112A>C (p.Ser704=)
|
|
|
NM_000138.5(FBN1):c.2112A>T (p.Ser704=)
|
|
|
NM_000138.5(FBN1):c.2113+18_2113+19delinsAT
|
|
|
NM_000138.5(FBN1):c.2113+1G>A
|
rs1566913670
|
|
NM_000138.5(FBN1):c.2113+1G>C
|
rs1566913670
|
|
NM_000138.5(FBN1):c.2113+1G>T
|
rs1566913670
|
|
NM_000138.5(FBN1):c.2113+2T>C
|
rs730880105
|
|
NM_000138.5(FBN1):c.2113+2T>G
|
rs730880105
|
|
NM_000138.5(FBN1):c.2113+4T>C
|
rs2141315610
|
|
NM_000138.5(FBN1):c.2113G>A (p.Ala705Thr)
|
rs1597574156
|
|
NM_000138.5(FBN1):c.2114-15G>C
|
rs1566912665
|
|
NM_000138.5(FBN1):c.2114-1G>A
|
|
|
NM_000138.5(FBN1):c.2114-1G>C
|
rs1555399484
|
|
NM_000138.5(FBN1):c.2114-20T>C
|
|
|
NM_000138.5(FBN1):c.2114-2A>C
|
rs886041440
|
|
NM_000138.5(FBN1):c.2114-5T>G
|
|
|
NM_000138.5(FBN1):c.2114-7A>G
|
|
|
NM_000138.5(FBN1):c.2114C>T (p.Ala705Val)
|
rs1426292408
|
|
NM_000138.5(FBN1):c.2116G>T (p.Glu706Ter)
|
rs2141308933
|
|
NM_000138.5(FBN1):c.2118_2127del (p.Glu706fs)
|
rs1555399482
|
|
NM_000138.5(FBN1):c.211T>A (p.Trp71Arg)
|
rs1555405658
|
|
NM_000138.5(FBN1):c.211T>C (p.Trp71Arg)
|
rs1555405658
|
|
NM_000138.5(FBN1):c.211T>G (p.Trp71Gly)
|
rs1555405658
|
|
NM_000138.5(FBN1):c.2130dup (p.Cys711fs)
|
rs1597571391
|
|
NM_000138.5(FBN1):c.2131T>A (p.Cys711Ser)
|
rs1555399481
|
|
NM_000138.5(FBN1):c.2132G>A (p.Cys711Tyr)
|
|
|
NM_000138.5(FBN1):c.2132G>T (p.Cys711Phe)
|
|
|
NM_000138.5(FBN1):c.213G>A (p.Trp71Ter)
|
|
|
NM_000138.5(FBN1):c.2140G>A (p.Gly714Arg)
|
rs1566912644
|
|
NM_000138.5(FBN1):c.2140G>C (p.Gly714Arg)
|
rs1566912644
|
|
NM_000138.5(FBN1):c.2141G>A (p.Gly714Glu)
|
rs2141308882
|
|
NM_000138.5(FBN1):c.2143_2161del (p.Pro715fs)
|
rs1597571360
|
|
NM_000138.5(FBN1):c.2144C>T (p.Pro715Leu)
|
|
|
NM_000138.5(FBN1):c.2147G>A (p.Gly716Glu)
|
rs794728185
|
|
NM_000138.5(FBN1):c.2149_2150insGA (p.Met717fs)
|
rs2043633143
|
|
NM_000138.5(FBN1):c.2167+19A>C
|
|
|
NM_000138.5(FBN1):c.2167+1G>A
|
rs2141308781
|
|
NM_000138.5(FBN1):c.2167+2dup
|
rs2043632840
|
|
NM_000138.5(FBN1):c.2167+4A>G
|
rs2141308773
|
|
NM_000138.5(FBN1):c.2167G>T (p.Asp723Tyr)
|
rs1555399477
|
|
NM_000138.5(FBN1):c.2168-11T>C
|
|
|
NM_000138.5(FBN1):c.2168-15T>G
|
|
|
NM_000138.5(FBN1):c.2168-15dup
|
rs762586890
|
|
NM_000138.5(FBN1):c.2168-1G>C
|
rs1555399387
|
|
NM_000138.5(FBN1):c.2168-1G>T
|
rs1555399387
|
|
NM_000138.5(FBN1):c.2168-4G>A
|
rs2141306607
|
|
NM_000138.5(FBN1):c.2168-9G>T
|
rs747772665
|
|
NM_000138.5(FBN1):c.2168A>C (p.Asp723Ala)
|
rs137854463
|
|
NM_000138.5(FBN1):c.2170A>G (p.Ile724Val)
|
|
|
NM_000138.5(FBN1):c.2171T>A (p.Ile724Lys)
|
|
|
NM_000138.5(FBN1):c.2171T>C (p.Ile724Thr)
|
rs878853677
|
|
NM_000138.5(FBN1):c.2176G>C (p.Glu726Gln)
|
rs2141306581
|
|
NM_000138.5(FBN1):c.2176del (p.Glu726fs)
|
rs1555399385
|
|
NM_000138.5(FBN1):c.2177A>G (p.Glu726Gly)
|
|
|
NM_000138.5(FBN1):c.2179T>A (p.Cys727Ser)
|
rs1064794025
|
|
NM_000138.5(FBN1):c.217del (p.Thr73fs)
|
rs2140737430
|
|
NM_000138.5(FBN1):c.2180G>A (p.Cys727Tyr)
|
rs1555399381
|
|
NM_000138.5(FBN1):c.2186del (p.Leu729fs)
|
rs193922187
|
|
NM_000138.5(FBN1):c.2187A>G (p.Leu729=)
|
rs61730055
|
|
NM_000138.5(FBN1):c.2191C>G (p.Pro731Ala)
|
|
|
NM_000138.5(FBN1):c.2200T>C (p.Cys734Arg)
|
rs2141306513
|
|
NM_000138.5(FBN1):c.2201G>A (p.Cys734Tyr)
|
rs794728187
|
|
NM_000138.5(FBN1):c.2206A>G (p.Asn736Asp)
|
rs878853678
|
|
NM_000138.5(FBN1):c.2207A>G (p.Asn736Ser)
|
rs1566912242
|
|
NM_000138.5(FBN1):c.2213dup (p.Cys739fs)
|
rs1555399379
|
|
NM_000138.5(FBN1):c.2214_2217del (p.Ile738fs)
|
|
|
NM_000138.5(FBN1):c.2216G>A (p.Cys739Tyr)
|
rs1555399378
|
|
NM_000138.5(FBN1):c.2217T>G (p.Cys739Trp)
|
rs1008275504
|
|
NM_000138.5(FBN1):c.2219A>C (p.Glu740Ala)
|
rs2043616665
|
|
NM_000138.5(FBN1):c.2219A>G (p.Glu740Gly)
|
rs2043616665
|
|
NM_000138.5(FBN1):c.2222A>G (p.Asn741Ser)
|
|
|
NM_000138.5(FBN1):c.2222del (p.Asn741fs)
|
|
|
NM_000138.5(FBN1):c.2223C>A (p.Asn741Lys)
|
|
|
NM_000138.5(FBN1):c.2237A>G (p.Tyr746Cys)
|
rs1555399372
|
|
NM_000138.5(FBN1):c.223C>T (p.Pro75Ser)
|
rs886051252
|
|
NM_000138.5(FBN1):c.2241A>G (p.Lys747=)
|
rs1045070535
|
|
NM_000138.5(FBN1):c.2242T>C (p.Cys748Arg)
|
rs397515765
|
|
NM_000138.5(FBN1):c.2243G>A (p.Cys748Tyr)
|
rs1064794282
|
|
NM_000138.5(FBN1):c.2243del (p.Cys748fs)
|
rs1555399371
|
|
NM_000138.5(FBN1):c.2245A>C (p.Ile749Leu)
|
|
|
NM_000138.5(FBN1):c.2245A>G (p.Ile749Val)
|
rs1555399370
|
|
NM_000138.5(FBN1):c.2248T>C (p.Cys750Arg)
|
rs1555399368
|
|
NM_000138.5(FBN1):c.2249G>A (p.Cys750Tyr)
|
rs2043616369
|
|
NM_000138.5(FBN1):c.2249G>T (p.Cys750Phe)
|
|
|
NM_000138.5(FBN1):c.2254_2256del (p.Ser752del)
|
rs2043616319
|
|
NM_000138.5(FBN1):c.2258G>A (p.Gly753Glu)
|
rs1555399365
|
|
NM_000138.5(FBN1):c.2258G>T (p.Gly753Val)
|
rs1555399365
|
|
NM_000138.5(FBN1):c.2261A>G (p.Tyr754Cys)
|
rs137854479
|
|
NM_000138.5(FBN1):c.2268G>A (p.Val756=)
|
rs2141306354
|
|
NM_000138.5(FBN1):c.2269del (p.Asp757fs)
|
rs1064793636
|
|
NM_000138.5(FBN1):c.2273C>G (p.Ser758Ter)
|
|
|
NM_000138.5(FBN1):c.2275A>G (p.Thr759Ala)
|
rs2141306342
|
|
NM_000138.5(FBN1):c.2277T>C (p.Thr759=)
|
rs1028807052
|
|
NM_000138.5(FBN1):c.2277T>G (p.Thr759=)
|
|
|
NM_000138.5(FBN1):c.2286C>G (p.Asn762Lys)
|
rs2043616066
|
|
NM_000138.5(FBN1):c.2287T>C (p.Cys763Arg)
|
rs1555399361
|
|
NM_000138.5(FBN1):c.2287T>G (p.Cys763Gly)
|
rs1555399361
|
|
NM_000138.5(FBN1):c.2289C>A (p.Cys763Ter)
|
|
|
NM_000138.5(FBN1):c.2289C>G (p.Cys763Trp)
|
rs181311020
|
|
NM_000138.5(FBN1):c.228C>G (p.Gly76=)
|
rs141651917
|
|
NM_000138.5(FBN1):c.2292del (p.Asp765fs)
|
rs2141306307
|
|
NM_000138.5(FBN1):c.2293+14C>A
|
|
|
NM_000138.5(FBN1):c.2293+15C>T
|
|
|
NM_000138.5(FBN1):c.2293+17A>G
|
|
|
NM_000138.5(FBN1):c.2293+1G>A
|
rs1060501092
|
|
NM_000138.5(FBN1):c.2293+8G>A
|
|
|
NM_000138.5(FBN1):c.2293+8G>T
|
|
|
NM_000138.5(FBN1):c.2294-11T>A
|
|
|
NM_000138.5(FBN1):c.2294-18T>C
|
|
|
NM_000138.5(FBN1):c.2294-1G>C
|
|
|
NM_000138.5(FBN1):c.2294-20T>C
|
|
|
NM_000138.5(FBN1):c.2294-2A>G
|
|
|
NM_000138.5(FBN1):c.2294-3C>A
|
|
|
NM_000138.5(FBN1):c.2294-6_2294-5del
|
rs2043607725
|
|
NM_000138.5(FBN1):c.2294-9_2294-4del
|
rs1597569681
|
|
NM_000138.5(FBN1):c.2296A>G (p.Ile766Val)
|
|
|
NM_000138.5(FBN1):c.2296del (p.Ile766fs)
|
rs2141305162
|
|
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.2302G>A (p.Glu768Lys)
|
|
|
NM_000138.5(FBN1):c.2302G>T (p.Glu768Ter)
|
|
|
NM_000138.5(FBN1):c.2303A>C (p.Glu768Ala)
|
rs794728189
|
|
NM_000138.5(FBN1):c.2305T>C (p.Cys769Arg)
|
rs1060501022
|
|
NM_000138.5(FBN1):c.2305_2315del (p.Cys769fs)
|
rs1566911957
|
|
NM_000138.5(FBN1):c.2306G>A (p.Cys769Tyr)
|
rs794728190
|
|
NM_000138.5(FBN1):c.2306G>T (p.Cys769Phe)
|
rs794728190
|
|
NM_000138.5(FBN1):c.2307T>G (p.Cys769Trp)
|
rs2141305134
|
|
NM_000138.5(FBN1):c.2311C>G (p.Leu771Val)
|
rs2043607479
|
|
NM_000138.5(FBN1):c.2315A>G (p.Asn772Ser)
|
rs2043607383
|
|
NM_000138.5(FBN1):c.2327G>A (p.Cys776Tyr)
|
rs1555399273
|
|
NM_000138.5(FBN1):c.2335G>A (p.Gly779Arg)
|
|
|
NM_000138.5(FBN1):c.2339A>C (p.Gln780Pro)
|
rs886039058
|
|
NM_000138.5(FBN1):c.2340A>G (p.Gln780=)
|
|
|
NM_000138.5(FBN1):c.2340del (p.Gln780fs)
|
rs1566911942
|
|
NM_000138.5(FBN1):c.2341T>A (p.Cys781Ser)
|
rs397515766
|
|
NM_000138.5(FBN1):c.2341T>C (p.Cys781Arg)
|
rs397515766
|
|
NM_000138.5(FBN1):c.2341T>G (p.Cys781Gly)
|
|
|
NM_000138.5(FBN1):c.2342G>A (p.Cys781Tyr)
|
rs1555399271
|
|
NM_000138.5(FBN1):c.2342del (p.Cys781fs)
|
|
|
NM_000138.5(FBN1):c.2343T>C (p.Cys781=)
|
rs199647257
|
|
NM_000138.5(FBN1):c.2343T>G (p.Cys781Trp)
|
|
|
NM_000138.5(FBN1):c.2348_2359del (p.Asn783_Gly786del)
|
rs2043606899
|
|
NM_000138.5(FBN1):c.2349T>A (p.Asn783Lys)
|
rs1057522903
|
|
NM_000138.5(FBN1):c.2352T>A (p.Thr784=)
|
rs2141305065
|
|
NM_000138.5(FBN1):c.2353_2355del (p.Pro785del)
|
rs1597569606
|
|
NM_000138.5(FBN1):c.2354C>A (p.Pro785His)
|
rs956678986
|
|
NM_000138.5(FBN1):c.2356G>A (p.Gly786Arg)
|
|
|
NM_000138.5(FBN1):c.2364dup (p.Val789fs)
|
|
|
NM_000138.5(FBN1):c.2368T>A (p.Cys790Ser)
|
rs1555399270
|
|
NM_000138.5(FBN1):c.2368T>C (p.Cys790Arg)
|
rs1555399270
|
|
NM_000138.5(FBN1):c.2368T>G (p.Cys790Gly)
|
|
|
NM_000138.5(FBN1):c.2369G>A (p.Cys790Tyr)
|
rs193922188
|
|
NM_000138.5(FBN1):c.2369G>C (p.Cys790Ser)
|
rs193922188
|
|
NM_000138.5(FBN1):c.2369G>T (p.Cys790Phe)
|
rs193922188
|
|
NM_000138.5(FBN1):c.2374T>C (p.Cys792Arg)
|
rs2141305039
|
|
NM_000138.5(FBN1):c.2375G>A (p.Cys792Tyr)
|
rs886038984
|
|
NM_000138.5(FBN1):c.2376C>T (p.Cys792=)
|
rs1060504142
|
|
NM_000138.5(FBN1):c.2377C>T (p.Pro793Ser)
|
|
|
NM_000138.5(FBN1):c.2379dup (p.Lys794fs)
|
rs1597569589
|
|
NM_000138.5(FBN1):c.237G>A (p.Gln79=)
|
|
|
NM_000138.5(FBN1):c.2384G>A (p.Gly795Glu)
|
|
|
NM_000138.5(FBN1):c.2384G>T (p.Gly795Val)
|
rs1555399267
|
|
NM_000138.5(FBN1):c.2384del (p.Gly795fs)
|
rs1566911908
|
|
NM_000138.5(FBN1):c.2385A>G (p.Gly795=)
|
rs1207115566
|
|
NM_000138.5(FBN1):c.2385A>T (p.Gly795=)
|
|
|
NM_000138.5(FBN1):c.238T>C (p.Cys80Arg)
|
rs111764111
|
|
NM_000138.5(FBN1):c.238T>G (p.Cys80Gly)
|
rs111764111
|
|
NM_000138.5(FBN1):c.2391C>T (p.Ile797=)
|
rs2141304992
|
|
NM_000138.5(FBN1):c.2397A>G (p.Lys799=)
|
|
|
NM_000138.5(FBN1):c.239G>A (p.Cys80Tyr)
|
rs397515767
|
|
NM_000138.5(FBN1):c.23_34del (p.Glu8_Leu11del)
|
|
|
NM_000138.5(FBN1):c.2404C>T (p.Leu802=)
|
|
|
NM_000138.5(FBN1):c.2407A>T (p.Lys803Ter)
|
rs397515768
|
|
NM_000138.5(FBN1):c.2410dup (p.Thr804fs)
|
rs1597569560
|
|
NM_000138.5(FBN1):c.2411C>T (p.Thr804Ile)
|
|
|
NM_000138.5(FBN1):c.2412_2413del (p.Thr804_Cys805insTer)
|
rs397515769
|
|
NM_000138.5(FBN1):c.2413T>C (p.Cys805Arg)
|
rs2043606316
|
|
NM_000138.5(FBN1):c.2414G>A (p.Cys805Tyr)
|
rs1597569553
|
|
NM_000138.5(FBN1):c.2415T>G (p.Cys805Trp)
|
rs1597569551
|
|
NM_000138.5(FBN1):c.2416G>A (p.Glu806Lys)
|
rs1555399258
|
|
NM_000138.5(FBN1):c.2418A>G (p.Glu806=)
|
rs794728191
|
|
NM_000138.5(FBN1):c.2419+16G>C
|
|
|
NM_000138.5(FBN1):c.2419+1G>A
|
rs1555399257
|
|
NM_000138.5(FBN1):c.2419+2T>G
|
rs1597569536
|
|
NM_000138.5(FBN1):c.2419G>A (p.Asp807Asn)
|
rs1566911886
|
|
NM_000138.5(FBN1):c.2420-1G>T
|
rs1555399214
|
|
NM_000138.5(FBN1):c.2420-2A>G
|
rs1060501052
|
|
NM_000138.5(FBN1):c.2420-8T>A
|
rs140582
|
|
NM_000138.5(FBN1):c.2422del (p.Ile808fs)
|
|
|
NM_000138.5(FBN1):c.2426A>G (p.Asp809Gly)
|
rs1555399211
|
|
NM_000138.5(FBN1):c.2431T>C (p.Cys811Arg)
|
|
|
NM_000138.5(FBN1):c.2432G>A (p.Cys811Tyr)
|
rs1555399210
|
|
NM_000138.5(FBN1):c.2433C>A (p.Cys811Ter)
|
rs193921256
|
|
NM_000138.5(FBN1):c.2433C>G (p.Cys811Trp)
|
rs193921256
|
|
NM_000138.5(FBN1):c.2434G>T (p.Glu812Ter)
|
rs201778577
|
|
NM_000138.5(FBN1):c.2438C>G (p.Ser813Ter)
|
rs1597569265
|
|
NM_000138.5(FBN1):c.2446T>C (p.Cys816Arg)
|
rs1555399206
|
|
NM_000138.5(FBN1):c.2447G>A (p.Cys816Tyr)
|
|
|
NM_000138.5(FBN1):c.2447G>C (p.Cys816Ser)
|
rs397515770
|
|
NM_000138.5(FBN1):c.2448C>G (p.Cys816Trp)
|
rs397515771
|
|
NM_000138.5(FBN1):c.244G>A (p.Val82Ile)
|
|
|
NM_000138.5(FBN1):c.2451T>G (p.Ile817Met)
|
|
|
NM_000138.5(FBN1):c.2458G>T (p.Val820Phe)
|
|
|
NM_000138.5(FBN1):c.2459T>C (p.Val820Ala)
|
|
|
NM_000138.5(FBN1):c.2462G>A (p.Cys821Tyr)
|
rs2043600123
|
|
NM_000138.5(FBN1):c.2467_2468insG (p.Asn823fs)
|
rs1555399204
|
|
NM_000138.5(FBN1):c.246C>G (p.Val82=)
|
|
|
NM_000138.5(FBN1):c.247+1G>A
|
rs25404
|
|
NM_000138.5(FBN1):c.247+1G>T
|
rs25404
|
|
NM_000138.5(FBN1):c.247+20G>A
|
rs2140737315
|
|
NM_000138.5(FBN1):c.247+2dup
|
rs397515772
|
|
NM_000138.5(FBN1):c.247+3A>C
|
rs201854371
|
|
NM_000138.5(FBN1):c.247+4del
|
|
|
NM_000138.5(FBN1):c.247+5G>A
|
rs2044668542
|
|
NM_000138.5(FBN1):c.247+5G>C
|
|
|
NM_000138.5(FBN1):c.247+9A>C
|
rs1298547542
|
|
NM_000138.5(FBN1):c.247+9A>G
|
rs1298547542
|
|
NM_000138.5(FBN1):c.2473C>T (p.Pro825Ser)
|
|
|
NM_000138.5(FBN1):c.2474del (p.Pro825fs)
|
rs1555399202
|
|
NM_000138.5(FBN1):c.2477G>A (p.Gly826Asp)
|
rs1555399200
|
|
NM_000138.5(FBN1):c.2479T>C (p.Ser827Pro)
|
rs193922189
|
|
NM_000138.5(FBN1):c.247C>T (p.Pro83Ser)
|
|
|
NM_000138.5(FBN1):c.248-3C>G
|
rs1555405537
|
|
NM_000138.5(FBN1):c.248-4A>G
|
rs1597631751
|
|
NM_000138.5(FBN1):c.2480C>G (p.Ser827Cys)
|
rs375382957
|
|
NM_000138.5(FBN1):c.2483_2500del (p.Phe828_Ser833del)
|
rs2141304189
|
|
NM_000138.5(FBN1):c.2488T>G (p.Cys830Gly)
|
rs397515773
|
|
NM_000138.5(FBN1):c.2489G>A (p.Cys830Tyr)
|
rs397515774
|
|
NM_000138.5(FBN1):c.2489G>C (p.Cys830Ser)
|
rs397515774
|
|
NM_000138.5(FBN1):c.2489G>T (p.Cys830Phe)
|
|
|
NM_000138.5(FBN1):c.2489_2492del (p.Cys830fs)
|
rs2141304207
|
|
NM_000138.5(FBN1):c.248C>T (p.Pro83Leu)
|
rs1206249804
|
|
NM_000138.5(FBN1):c.2493A>G (p.Glu831=)
|
rs756410019
|
|
NM_000138.5(FBN1):c.2494T>C (p.Cys832Arg)
|
|
|
NM_000138.5(FBN1):c.2495G>A (p.Cys832Tyr)
|
rs397515775
|
|
NM_000138.5(FBN1):c.2495G>C (p.Cys832Ser)
|
rs397515775
|
|
NM_000138.5(FBN1):c.2495G>T (p.Cys832Phe)
|
rs397515775
|
|
NM_000138.5(FBN1):c.2496T>G (p.Cys832Trp)
|
rs397515776
|
|
NM_000138.5(FBN1):c.2502_2513del (p.Glu835_Leu838del)
|
rs1555399195
|
|
NM_000138.5(FBN1):c.2506del (p.Ser836fs)
|
rs1566911709
|
|
NM_000138.5(FBN1):c.2508T>C (p.Ser836=)
|
rs193922190
|
|
NM_000138.5(FBN1):c.2513del (p.Leu838fs)
|
rs2141304158
|
|
NM_000138.5(FBN1):c.2515G>A (p.Asp839Asn)
|
|
|
NM_000138.5(FBN1):c.2519C>A (p.Pro840Gln)
|
|
|
NM_000138.5(FBN1):c.2521A>T (p.Thr841Ser)
|
rs1381506466
|
|
NM_000138.5(FBN1):c.2524A>T (p.Lys842Ter)
|
rs886038941
|
|
NM_000138.5(FBN1):c.2527del (p.Thr843fs)
|
rs2043598968
|
|
NM_000138.5(FBN1):c.2529C>T (p.Thr843=)
|
|
|
NM_000138.5(FBN1):c.2529del (p.Ile844fs)
|
rs1555399193
|
|
NM_000138.5(FBN1):c.2539+10T>A
|
rs878853679
|
|
NM_000138.5(FBN1):c.2539+10T>C
|
rs878853679
|
|
NM_000138.5(FBN1):c.2539+11T>C
|
|
|
NM_000138.5(FBN1):c.2539+13C>T
|
|
|
NM_000138.5(FBN1):c.2539+17G>A
|
|
|
NM_000138.5(FBN1):c.2539+19A>T
|
rs370949913
|
|
NM_000138.5(FBN1):c.2539+1G>A
|
rs794728192
|
|
NM_000138.5(FBN1):c.2539+1G>C
|
rs794728192
|
|
NM_000138.5(FBN1):c.2539+2T>G
|
rs1597569159
|
|
NM_000138.5(FBN1):c.2539+6T>G
|
rs2043598669
|
|
NM_000138.5(FBN1):c.2539+9C>T
|
rs765271763
|
|
NM_000138.5(FBN1):c.2540-10T>A
|
|
|
NM_000138.5(FBN1):c.2542A>C (p.Thr848Pro)
|
rs193922191
|
|
NM_000138.5(FBN1):c.2543C>A (p.Thr848Asn)
|
rs878853680
|
|
NM_000138.5(FBN1):c.2543C>T (p.Thr848Ile)
|
rs878853680
|
|
NM_000138.5(FBN1):c.2544C>T (p.Thr848=)
|
rs2043596539
|
|
NM_000138.5(FBN1):c.2545A>G (p.Ile849Val)
|
rs2043596507
|
|
NM_000138.5(FBN1):c.254G>A (p.Cys85Tyr)
|
|
|
NM_000138.5(FBN1):c.2551G>A (p.Gly851Ser)
|
rs2141303833
|
|
NM_000138.5(FBN1):c.2554A>G (p.Thr852Ala)
|
rs2141303822
|
|
NM_000138.5(FBN1):c.2557T>A (p.Cys853Ser)
|
rs1555399165
|
|
NM_000138.5(FBN1):c.2557T>C (p.Cys853Arg)
|
rs1555399165
|
|
NM_000138.5(FBN1):c.2558G>A (p.Cys853Tyr)
|
|
|
NM_000138.5(FBN1):c.2559C>A (p.Cys853Ter)
|
rs111981744
|
|
NM_000138.5(FBN1):c.2559C>G (p.Cys853Trp)
|
rs111981744
|
|
NM_000138.5(FBN1):c.255C>A (p.Cys85Ter)
|
rs1555405536
|
|
NM_000138.5(FBN1):c.2560T>C (p.Trp854Arg)
|
rs2043596204
|
|
NM_000138.5(FBN1):c.2561G>A (p.Trp854Ter)
|
rs1597568968
|
|
NM_000138.5(FBN1):c.2561G>C (p.Trp854Ser)
|
rs1597568968
|
|
NM_000138.5(FBN1):c.2562G>A (p.Trp854Ter)
|
rs1555399164
|
|
NM_000138.5(FBN1):c.2562G>T (p.Trp854Cys)
|
rs1555399164
|
|
NM_000138.5(FBN1):c.2563C>T (p.Gln855Ter)
|
rs1057519502
|
|
NM_000138.5(FBN1):c.2567C>T (p.Thr856Ile)
|
|
|
NM_000138.5(FBN1):c.2568T>C (p.Thr856=)
|
|
|
NM_000138.5(FBN1):c.256del (p.Arg86fs)
|
|
|
NM_000138.5(FBN1):c.257G>A (p.Arg86Gln)
|
rs2044650738
|
|
NM_000138.5(FBN1):c.2581C>T (p.Arg861Ter)
|
rs140583
|
|
NM_000138.5(FBN1):c.2584T>A (p.Cys862Ser)
|
rs2043595650
|
|
NM_000138.5(FBN1):c.2584T>C (p.Cys862Arg)
|
rs2043595650
|
|
NM_000138.5(FBN1):c.2585G>A (p.Cys862Tyr)
|
rs1555399162
|
|
NM_000138.5(FBN1):c.2586dup (p.Glu863Ter)
|
rs1555399160
|
|
NM_000138.5(FBN1):c.258G>T (p.Arg86=)
|
|
|
NM_000138.5(FBN1):c.2595C>A (p.Asn865Lys)
|
|
|
NM_000138.5(FBN1):c.2597T>A (p.Ile866Asn)
|
|
|
NM_000138.5(FBN1):c.2601T>C (p.Asn867=)
|
|
|
NM_000138.5(FBN1):c.260A>G (p.His87Arg)
|
rs1060501080
|
|
NM_000138.5(FBN1):c.2612T>C (p.Leu871Ser)
|
|
|
NM_000138.5(FBN1):c.2613A>G (p.Leu871=)
|
rs770290542
|
|
NM_000138.5(FBN1):c.2615del (p.Lys872fs)
|
|
|
NM_000138.5(FBN1):c.2618C>T (p.Ser873Phe)
|
rs2043595271
|
|
NM_000138.5(FBN1):c.2621A>G (p.Gln874Arg)
|
rs2043595247
|
|
NM_000138.5(FBN1):c.2623T>A (p.Cys875Ser)
|
rs1597568880
|
|
NM_000138.5(FBN1):c.2624G>A (p.Cys875Tyr)
|
rs886039038
|
|
NM_000138.5(FBN1):c.2626T>C (p.Cys876Arg)
|
rs1555399158
|
|
NM_000138.5(FBN1):c.2627G>A (p.Cys876Tyr)
|
rs794728193
|
|
NM_000138.5(FBN1):c.2627G>T (p.Cys876Phe)
|
rs794728193
|
|
NM_000138.5(FBN1):c.2627_2628insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGTCCCAGTGCTG (p.Cys876fs)
|
|
|
NM_000138.5(FBN1):c.2628C>G (p.Cys876Trp)
|
rs112085967
|
|
NM_000138.5(FBN1):c.2629_2645dup (p.Trp883fs)
|
|
|
NM_000138.5(FBN1):c.2630C>T (p.Ser877Phe)
|
rs1555399153
|
|
NM_000138.5(FBN1):c.2631del (p.Ser878fs)
|
rs2141303607
|
|
NM_000138.5(FBN1):c.2636T>C (p.Leu879Pro)
|
|
|
NM_000138.5(FBN1):c.2638G>A (p.Gly880Ser)
|
rs794728194
|
|
NM_000138.5(FBN1):c.2638G>C (p.Gly880Arg)
|
rs794728194
|
|
NM_000138.5(FBN1):c.2638G>T (p.Gly880Cys)
|
rs794728194
|
|
NM_000138.5(FBN1):c.2639G>C (p.Gly880Ala)
|
|
|
NM_000138.5(FBN1):c.2639G>T (p.Gly880Val)
|
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.2646G>A (p.Ala882=)
|
rs376040442
|
|
NM_000138.5(FBN1):c.2646G>C (p.Ala882=)
|
rs376040442
|
|
NM_000138.5(FBN1):c.2647T>C (p.Trp883Arg)
|
rs1555399150
|
|
NM_000138.5(FBN1):c.2648G>A (p.Trp883Ter)
|
rs2141303557
|
|
NM_000138.5(FBN1):c.2649G>A (p.Trp883Ter)
|
rs1597568822
|
|
NM_000138.5(FBN1):c.2651G>A (p.Gly884Glu)
|
rs1555399149
|
|
NM_000138.5(FBN1):c.2657C>T (p.Pro886Leu)
|
rs1060501083
|
|
NM_000138.5(FBN1):c.2657_2667del (p.Pro886fs)
|
rs1555399146
|
|
NM_000138.5(FBN1):c.2657_2671del (p.Pro886_Cys890del)
|
rs2141303486
|
|
NM_000138.5(FBN1):c.2659T>A (p.Cys887Ser)
|
rs2141303537
|
|
NM_000138.5(FBN1):c.2659T>C (p.Cys887Arg)
|
rs2141303537
|
|
NM_000138.5(FBN1):c.265T>C (p.Cys89Arg)
|
rs1555405533
|
|
NM_000138.5(FBN1):c.2660G>A (p.Cys887Tyr)
|
rs2043594601
|
|
NM_000138.5(FBN1):c.2660G>C (p.Cys887Ser)
|
|
|
NM_000138.5(FBN1):c.2662A>T (p.Thr888Ser)
|
|
|
NM_000138.5(FBN1):c.2664C>T (p.Thr888=)
|
rs1597568804
|
|
NM_000138.5(FBN1):c.2665C>G (p.Leu889Val)
|
|
|
NM_000138.5(FBN1):c.2666T>A (p.Leu889Gln)
|
|
|
NM_000138.5(FBN1):c.2666T>C (p.Leu889Pro)
|
rs1393818056
|
|
NM_000138.5(FBN1):c.2667A>G (p.Leu889=)
|
rs780192241
|
|
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>C (p.Cys89Ser)
|
rs112660651
|
|
NM_000138.5(FBN1):c.266G>T (p.Cys89Phe)
|
rs112660651
|
|
NM_000138.5(FBN1):c.2673A>G (p.Gln891=)
|
rs1555399143
|
|
NM_000138.5(FBN1):c.2674G>A (p.Val892Ile)
|
|
|
NM_000138.5(FBN1):c.2677+14A>G
|
|
|
NM_000138.5(FBN1):c.2677+15T>C
|
|
|
NM_000138.5(FBN1):c.2677+16G>A
|
|
|
NM_000138.5(FBN1):c.2677+18T>G
|
|
|
NM_000138.5(FBN1):c.2677+1G>A
|
|
|
NM_000138.5(FBN1):c.2677+1del
|
rs2141303466
|
|
NM_000138.5(FBN1):c.2677+3A>G
|
rs1060501071
|
|
NM_000138.5(FBN1):c.2677+5G>A
|
rs1085307946
|
|
NM_000138.5(FBN1):c.2677G>A (p.Asp893Asn)
|
rs193922193
|
|
NM_000138.5(FBN1):c.2677G>C (p.Asp893His)
|
rs193922193
|
|
NM_000138.5(FBN1):c.2677G>T (p.Asp893Tyr)
|
rs193922193
|
|
NM_000138.5(FBN1):c.2678-10T>C
|
rs1457653118
|
|
NM_000138.5(FBN1):c.2678-15C>A
|
rs181681840
|
|
NM_000138.5(FBN1):c.2678-16del
|
|
|
NM_000138.5(FBN1):c.2678-1G>T
|
|
|
NM_000138.5(FBN1):c.2678-2A>G
|
rs1555399101
|
|
NM_000138.5(FBN1):c.2678-6T>G
|
rs1555399102
|
|
NM_000138.5(FBN1):c.2678-8T>C
|
|
|
NM_000138.5(FBN1):c.2678-9T>A
|
rs2141302502
|
|
NM_000138.5(FBN1):c.2682_2685del (p.Ile895fs)
|
rs2141302451
|
|
NM_000138.5(FBN1):c.2682del (p.Ile895fs)
|
rs193922194
|
|
NM_000138.5(FBN1):c.2685dup (p.Cys896fs)
|
|
|
NM_000138.5(FBN1):c.2686T>C (p.Cys896Arg)
|
rs2043584517
|
|
NM_000138.5(FBN1):c.2687G>A (p.Cys896Tyr)
|
rs2141302442
|
|
NM_000138.5(FBN1):c.2687G>C (p.Cys896Ser)
|
|
|
NM_000138.5(FBN1):c.268_269delinsC (p.Gly90fs)
|
rs397515778
|
|
NM_000138.5(FBN1):c.2691T>C (p.Gly897=)
|
rs1555399096
|
|
NM_000138.5(FBN1):c.2691dup (p.Lys898Ter)
|
rs397515779
|
|
NM_000138.5(FBN1):c.2695G>A (p.Gly899Arg)
|
rs869025405
|
|
NM_000138.5(FBN1):c.2695G>C (p.Gly899Arg)
|
rs869025405
|
|
NM_000138.5(FBN1):c.2696G>A (p.Gly899Glu)
|
rs1555399094
|
|
NM_000138.5(FBN1):c.2696G>C (p.Gly899Ala)
|
rs1555399094
|
|
NM_000138.5(FBN1):c.2696_2697dup (p.Tyr900fs)
|
rs2141302411
|
|
NM_000138.5(FBN1):c.2698_2699insGG (p.Tyr900fs)
|
rs1555399093
|
|
NM_000138.5(FBN1):c.2702C>T (p.Ser901Leu)
|
|
|
NM_000138.5(FBN1):c.2714G>A (p.Gly905Glu)
|
rs1060501091
|
|
NM_000138.5(FBN1):c.2714del (p.Gly905fs)
|
rs1555399089
|
|
NM_000138.5(FBN1):c.2718A>G (p.Thr906=)
|
rs2141302366
|
|
NM_000138.5(FBN1):c.2719C>T (p.Gln907Ter)
|
rs1597568290
|
|
NM_000138.5(FBN1):c.2721A>G (p.Gln907=)
|
rs781062880
|
|
NM_000138.5(FBN1):c.2721A>T (p.Gln907His)
|
rs781062880
|
|
NM_000138.5(FBN1):c.2722T>C (p.Cys908Arg)
|
rs1060501021
|
|
NM_000138.5(FBN1):c.2723G>C (p.Cys908Ser)
|
rs1057523406
|
|
NM_000138.5(FBN1):c.2723G>T (p.Cys908Phe)
|
rs1057523406
|
|
NM_000138.5(FBN1):c.2727A>G (p.Glu909=)
|
|
|
NM_000138.5(FBN1):c.2728+13A>G
|
|
|
NM_000138.5(FBN1):c.2728+14C>G
|
|
|
NM_000138.5(FBN1):c.2728+16T>G
|
|
|
NM_000138.5(FBN1):c.2728+18T>A
|
|
|
NM_000138.5(FBN1):c.2728+18T>C
|
|
|
NM_000138.5(FBN1):c.2728+1G>C
|
rs794728322
|
|
NM_000138.5(FBN1):c.2728_2728+1delinsAA
|
rs1566911331
|
|
NM_000138.5(FBN1):c.2729-11T>C
|
|
|
NM_000138.5(FBN1):c.2729-13T>G
|
|
|
NM_000138.5(FBN1):c.2729-14T>G
|
|
|
NM_000138.5(FBN1):c.2729-16T>C
|
|
|
NM_000138.5(FBN1):c.2729-17T>C
|
|
|
NM_000138.5(FBN1):c.2729-17dup
|
rs35314876
|
|
NM_000138.5(FBN1):c.2729-19A>T
|
|
|
NM_000138.5(FBN1):c.2729-1G>A
|
rs1487002781
|
|
NM_000138.5(FBN1):c.2729-2A>G
|
rs113813525
|
|
NM_000138.5(FBN1):c.2729-3del
|
rs756503206
|
|
NM_000138.5(FBN1):c.2729-7T>C
|
rs1269178652
|
|
NM_000138.5(FBN1):c.2729-8C>A
|
rs775257418
|
|
NM_000138.5(FBN1):c.2729-8C>T
|
rs775257418
|
|
NM_000138.5(FBN1):c.2729-9del
|
rs35314876
|
|
NM_000138.5(FBN1):c.2729A>T (p.Asp910Val)
|
rs1284769637
|
|
NM_000138.5(FBN1):c.2736T>C (p.Asp912=)
|
|
|
NM_000138.5(FBN1):c.2736_2738del (p.Asp912del)
|
rs1566910954
|
|
NM_000138.5(FBN1):c.2737G>A (p.Glu913Lys)
|
rs1555398996
|
|
NM_000138.5(FBN1):c.2737G>T (p.Glu913Ter)
|
rs1555398996
|
|
NM_000138.5(FBN1):c.2738A>C (p.Glu913Ala)
|
rs1555398995
|
|
NM_000138.5(FBN1):c.2738A>G (p.Glu913Gly)
|
rs1555398995
|
|
NM_000138.5(FBN1):c.2740T>A (p.Cys914Ser)
|
rs1555398994
|
|
NM_000138.5(FBN1):c.2740T>C (p.Cys914Arg)
|
rs1555398994
|
|
NM_000138.5(FBN1):c.2741G>A (p.Cys914Tyr)
|
rs2141300503
|
|
NM_000138.5(FBN1):c.2743G>A (p.Glu915Lys)
|
rs746834413
|
|
NM_000138.5(FBN1):c.2745del (p.Val916fs)
|
rs2043569925
|
|
NM_000138.5(FBN1):c.2746G>C (p.Val916Leu)
|
rs373644734
|
|
NM_000138.5(FBN1):c.274G>A (p.Gly92Arg)
|
rs2140734026
|
|
NM_000138.5(FBN1):c.2752C>T (p.Pro918Ser)
|
rs1555398992
|
|
NM_000138.5(FBN1):c.2753del (p.Pro918fs)
|
|
|
NM_000138.5(FBN1):c.2758G>A (p.Val920Met)
|
|
|
NM_000138.5(FBN1):c.2761T>C (p.Cys921Arg)
|
rs1597567249
|
|
NM_000138.5(FBN1):c.2762G>A (p.Cys921Tyr)
|
rs2141300460
|
|
NM_000138.5(FBN1):c.2764A>T (p.Lys922Ter)
|
rs2141300454
|
|
NM_000138.5(FBN1):c.2764_2780del (p.Cys921_Lys922insTer)
|
rs1555398988
|
|
NM_000138.5(FBN1):c.2768del (p.Asn923fs)
|
rs1597567246
|
|
NM_000138.5(FBN1):c.2776T>C (p.Cys926Arg)
|
rs2141300401
|
|
NM_000138.5(FBN1):c.2777G>A (p.Cys926Tyr)
|
rs1555398989
|
|
NM_000138.5(FBN1):c.2777G>C (p.Cys926Ser)
|
rs1555398989
|
|
NM_000138.5(FBN1):c.2784C>T (p.Asn928=)
|
|
|
NM_000138.5(FBN1):c.2786C>T (p.Thr929Ile)
|
|
|
NM_000138.5(FBN1):c.2790G>A (p.Arg930=)
|
|
|
NM_000138.5(FBN1):c.2792G>T (p.Gly931Val)
|
rs200078617
|
|
NM_000138.5(FBN1):c.2793del (p.Ser932fs)
|
rs778900586
|
|
NM_000138.5(FBN1):c.2795C>G (p.Ser932Ter)
|
|
|
NM_000138.5(FBN1):c.2796A>G (p.Ser932=)
|
rs1261762653
|
|
NM_000138.5(FBN1):c.2799C>T (p.Phe933=)
|
rs2141300339
|
|
NM_000138.5(FBN1):c.27C>T (p.Ile9=)
|
rs1057522209
|
|
NM_000138.5(FBN1):c.2801A>C (p.Lys934Thr)
|
rs1489199503
|
|
NM_000138.5(FBN1):c.2801A>G (p.Lys934Arg)
|
|
|
NM_000138.5(FBN1):c.2803T>G (p.Cys935Gly)
|
|
|
NM_000138.5(FBN1):c.2806C>T (p.Gln936Ter)
|
rs794728197
|
|
NM_000138.5(FBN1):c.2808G>A (p.Gln936=)
|
|
|
NM_000138.5(FBN1):c.2808_2810del (p.Gln936_Cys937delinsHis)
|
rs1555398981
|
|
NM_000138.5(FBN1):c.2813C>T (p.Pro938Leu)
|
rs758257941
|
|
NM_000138.5(FBN1):c.2817T>C (p.Ser939=)
|
rs1254659886
|
|
NM_000138.5(FBN1):c.281G>A (p.Cys94Tyr)
|
|
|
NM_000138.5(FBN1):c.281G>T (p.Cys94Phe)
|
rs730880098
|
|
NM_000138.5(FBN1):c.2830del (p.Asp944fs)
|
|
|
NM_000138.5(FBN1):c.2833G>C (p.Ala945Pro)
|
|
|
NM_000138.5(FBN1):c.2833del (p.Ala945fs)
|
rs397515781
|
|
NM_000138.5(FBN1):c.2848T>C (p.Cys950Arg)
|
rs2141300266
|
|
NM_000138.5(FBN1):c.2849G>A (p.Cys950Tyr)
|
rs1555398974
|
|
NM_000138.5(FBN1):c.2849G>C (p.Cys950Ser)
|
rs1555398974
|
|
NM_000138.5(FBN1):c.2849G>T (p.Cys950Phe)
|
rs1555398974
|
|
NM_000138.5(FBN1):c.284C>A (p.Ser95Ter)
|
rs922684362
|
|
NM_000138.5(FBN1):c.2850T>A (p.Cys950Ter)
|
|
|
NM_000138.5(FBN1):c.2854+10G>A
|
rs768540741
|
|
NM_000138.5(FBN1):c.2854+11A>G
|
|
|
NM_000138.5(FBN1):c.2854+15C>T
|
|
|
NM_000138.5(FBN1):c.2854+1G>A
|
|
|
NM_000138.5(FBN1):c.2854+1G>T
|
rs112809590
|
|
NM_000138.5(FBN1):c.2854+20T>C
|
|
|
NM_000138.5(FBN1):c.2854+2T>C
|
rs2043568077
|
|
NM_000138.5(FBN1):c.2854+4A>G
|
|
|
NM_000138.5(FBN1):c.2854+7A>G
|
|
|
NM_000138.5(FBN1):c.2854+9T>G
|
|
|
NM_000138.5(FBN1):c.2854G>A (p.Asp952Asn)
|
rs2141300251
|
|
NM_000138.5(FBN1):c.2854G>C (p.Asp952His)
|
rs2141300251
|
|
NM_000138.5(FBN1):c.2855-11C>T
|
|
|
NM_000138.5(FBN1):c.2855-16T>C
|
rs2141297617
|
|
NM_000138.5(FBN1):c.2855-18C>G
|
|
|
NM_000138.5(FBN1):c.2855-19C>T
|
|
|
NM_000138.5(FBN1):c.2855-1G>A
|
rs112202622
|
|
NM_000138.5(FBN1):c.2855-1G>C
|
rs112202622
|
|
NM_000138.5(FBN1):c.2855-2A>G
|
rs2141297577
|
|
NM_000138.5(FBN1):c.2855-8T>C
|
rs193922195
|
|
NM_000138.5(FBN1):c.2856T>C (p.Asp952=)
|
|
|
NM_000138.5(FBN1):c.2857dup (p.Ile953fs)
|
rs1555398837
|
|
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.2861G>C (p.Arg954Pro)
|
rs112911555
|
|
NM_000138.5(FBN1):c.2861G>T (p.Arg954Leu)
|
rs112911555
|
|
NM_000138.5(FBN1):c.2873G>C (p.Cys958Ser)
|
rs1555398834
|
|
NM_000138.5(FBN1):c.2875_2908dup (p.Pro970fs)
|
rs2141297440
|
|
NM_000138.5(FBN1):c.2876T>C (p.Phe959Ser)
|
|
|
NM_000138.5(FBN1):c.2876del (p.Phe959fs)
|
rs2043545549
|
|
NM_000138.5(FBN1):c.2882G>A (p.Arg961Lys)
|
rs886039100
|
|
NM_000138.5(FBN1):c.2884T>C (p.Tyr962His)
|
|
|
NM_000138.5(FBN1):c.2884_2890del (p.Tyr962fs)
|
rs1555398833
|
|
NM_000138.5(FBN1):c.2886C>A (p.Tyr962Ter)
|
rs772108557
|
|
NM_000138.5(FBN1):c.2886C>G (p.Tyr962Ter)
|
|
|
NM_000138.5(FBN1):c.2887G>A (p.Glu963Lys)
|
rs745709588
|
|
NM_000138.5(FBN1):c.2887_2893del (p.Glu963fs)
|
rs1555398832
|
|
NM_000138.5(FBN1):c.2893G>A (p.Glu965Lys)
|
rs748905831
|
|
NM_000138.5(FBN1):c.2896G>T (p.Glu966Ter)
|
rs1555398830
|
|
NM_000138.5(FBN1):c.2901del (p.Glu966_Cys967insTer)
|
|
|
NM_000138.5(FBN1):c.2903C>T (p.Thr968Ile)
|
rs781698952
|
|
NM_000138.5(FBN1):c.2903_2910dup (p.Ile971fs)
|
rs2141297429
|
|
NM_000138.5(FBN1):c.2905C>T (p.Leu969=)
|
rs376776832
|
|
NM_000138.5(FBN1):c.2909C>G (p.Pro970Arg)
|
|
|
NM_000138.5(FBN1):c.2913T>C (p.Ile971=)
|
rs2141297416
|
|
NM_000138.5(FBN1):c.2913del (p.Ile971fs)
|
rs1555398826
|
|
NM_000138.5(FBN1):c.2923C>T (p.His975Tyr)
|
rs1597565510
|
|
NM_000138.5(FBN1):c.2929A>G (p.Met977Val)
|
rs776833421
|
|
NM_000138.5(FBN1):c.2930T>C (p.Met977Thr)
|
|
|
NM_000138.5(FBN1):c.2933A>G (p.Asp978Gly)
|
|
|
NM_000138.5(FBN1):c.2934C>T (p.Asp978=)
|
rs138438849
|
|
NM_000138.5(FBN1):c.2934dup (p.Ala979fs)
|
rs1555398821
|
|
NM_000138.5(FBN1):c.2935G>T (p.Ala979Ser)
|
rs748915171
|
|
NM_000138.5(FBN1):c.293del (p.Asn98fs)
|
rs2044650356
|
|
NM_000138.5(FBN1):c.2942G>A (p.Cys981Tyr)
|
rs727505110
|
|
NM_000138.5(FBN1):c.2942G>C (p.Cys981Ser)
|
rs727505110
|
|
NM_000138.5(FBN1):c.2943C>G (p.Cys981Trp)
|
|
|
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.2948_2970del (p.Cys982_Ser983insTer)
|
rs1555398811
|
|
NM_000138.5(FBN1):c.2949C>A (p.Ser983=)
|
rs769307676
|
|
NM_000138.5(FBN1):c.2949del (p.Val984fs)
|
|
|
NM_000138.5(FBN1):c.2952C>A (p.Val984=)
|
rs374670384
|
|
NM_000138.5(FBN1):c.2953G>A (p.Gly985Arg)
|
rs794728199
|
|
NM_000138.5(FBN1):c.2953G>T (p.Gly985Trp)
|
rs794728199
|
|
NM_000138.5(FBN1):c.2957C>T (p.Ala986Val)
|
|
|
NM_000138.5(FBN1):c.2959G>C (p.Ala987Pro)
|
rs2141297282
|
|
NM_000138.5(FBN1):c.2961C>G (p.Ala987=)
|
|
|
NM_000138.5(FBN1):c.2962dup (p.Trp988fs)
|
|
|
NM_000138.5(FBN1):c.2963G>A (p.Trp988Ter)
|
rs2043543553
|
|
NM_000138.5(FBN1):c.2964G>A (p.Trp988Ter)
|
|
|
NM_000138.5(FBN1):c.2964_2965delinsTT (p.Trp988_Gly989delinsCysCys)
|
rs2141297274
|
|
NM_000138.5(FBN1):c.2965G>A (p.Gly989Ser)
|
|
|
NM_000138.5(FBN1):c.2966dup (p.Thr990fs)
|
|
|
NM_000138.5(FBN1):c.2976A>C (p.Glu992Asp)
|
|
|
NM_000138.5(FBN1):c.2979C>A (p.Cys993Ter)
|
|
|
NM_000138.5(FBN1):c.2980G>T (p.Glu994Ter)
|
|
|
NM_000138.5(FBN1):c.2982G>A (p.Glu994=)
|
rs758745637
|
|
NM_000138.5(FBN1):c.2982_2999del (p.Glu994_Asn1000delinsAsp)
|
|
|
NM_000138.5(FBN1):c.2985G>A (p.Glu995=)
|
|
|
NM_000138.5(FBN1):c.2986T>A (p.Cys996Ser)
|
rs140592
|
|
NM_000138.5(FBN1):c.2986dup (p.Cys996fs)
|
rs2043543231
|
|
NM_000138.5(FBN1):c.2988T>A (p.Cys996Ter)
|
rs1555398803
|
|
NM_000138.5(FBN1):c.298T>C (p.Cys100Arg)
|
rs1597631662
|
|
NM_000138.5(FBN1):c.2992A>G (p.Met998Val)
|
rs750727783
|
|
NM_000138.5(FBN1):c.2999A>T (p.Asn1000Ile)
|
rs2043543012
|
|
NM_000138.5(FBN1):c.299G>A (p.Cys100Tyr)
|
rs397515782
|
|
NM_000138.5(FBN1):c.299G>T (p.Cys100Phe)
|
rs397515782
|
|
NM_000138.5(FBN1):c.2T>C (p.Met1Thr)
|
rs886041536
|
|
NM_000138.5(FBN1):c.2T>G (p.Met1Arg)
|
rs886041536
|
|
NM_000138.5(FBN1):c.3002C>A (p.Thr1001Asn)
|
|
|
NM_000138.5(FBN1):c.3006T>C (p.Pro1002=)
|
rs2141297191
|
|
NM_000138.5(FBN1):c.3007G>T (p.Glu1003Ter)
|
|
|
NM_000138.5(FBN1):c.300C>A (p.Cys100Ter)
|
rs397515783
|
|
NM_000138.5(FBN1):c.3012C>A (p.Tyr1004Ter)
|
rs397515784
|
|
NM_000138.5(FBN1):c.3012C>G (p.Tyr1004Ter)
|
rs397515784
|
|
NM_000138.5(FBN1):c.3012C>T (p.Tyr1004=)
|
rs397515784
|
|
NM_000138.5(FBN1):c.3013G>T (p.Glu1005Ter)
|
rs564713154
|
|
NM_000138.5(FBN1):c.3015G>A (p.Glu1005=)
|
rs1430562775
|
|
NM_000138.5(FBN1):c.3016G>A (p.Glu1006Lys)
|
rs754040534
|
|
NM_000138.5(FBN1):c.3022T>C (p.Cys1008Arg)
|
rs1555398793
|
|
NM_000138.5(FBN1):c.3023G>C (p.Cys1008Ser)
|
rs2141297152
|
|
NM_000138.5(FBN1):c.3026C>T (p.Pro1009Leu)
|
rs148076256
|
|
NM_000138.5(FBN1):c.3027G>A (p.Pro1009=)
|
rs774381427
|
|
NM_000138.5(FBN1):c.302C>T (p.Thr101Ile)
|
|
|
NM_000138.5(FBN1):c.3035C>A (p.Pro1012His)
|
rs113990281
|
|
NM_000138.5(FBN1):c.3035C>G (p.Pro1012Arg)
|
rs113990281
|
|
NM_000138.5(FBN1):c.3037G>A (p.Gly1013Arg)
|
rs140593
|
|
NM_000138.5(FBN1):c.3037G>C (p.Gly1013Arg)
|
rs140593
|
|
NM_000138.5(FBN1):c.3038del (p.Gly1013fs)
|
rs2141297097
|
|
NM_000138.5(FBN1):c.304T>C (p.Cys102Arg)
|
rs1566937712
|
|
NM_000138.5(FBN1):c.3051A>G (p.Lys1017=)
|
|
|
NM_000138.5(FBN1):c.3052G>T (p.Glu1018Ter)
|
rs1597565298
|
|
NM_000138.5(FBN1):c.3054A>G (p.Glu1018=)
|
rs1060504141
|
|
NM_000138.5(FBN1):c.3055del (p.Ile1019fs)
|
|
|
NM_000138.5(FBN1):c.3059C>A (p.Thr1020Lys)
|
|
|
NM_000138.5(FBN1):c.305G>A (p.Cys102Tyr)
|
rs794728292
|
|
NM_000138.5(FBN1):c.305G>C (p.Cys102Ser)
|
rs794728292
|
|
NM_000138.5(FBN1):c.3061_3082+172del
|
rs1555398753
|
|
NM_000138.5(FBN1):c.3064G>A (p.Gly1022Arg)
|
|
|
NM_000138.5(FBN1):c.3065G>A (p.Gly1022Glu)
|
rs1597565278
|
|
NM_000138.5(FBN1):c.306C>G (p.Cys102Trp)
|
|
|
NM_000138.5(FBN1):c.3073_3074insA (p.Phe1025fs)
|
rs1566910251
|
|
NM_000138.5(FBN1):c.3076T>C (p.Phe1026Leu)
|
|
|
NM_000138.5(FBN1):c.3078C>T (p.Phe1026=)
|
rs553411757
|
|
NM_000138.5(FBN1):c.3079A>G (p.Lys1027Glu)
|
rs2141297017
|
|
NM_000138.5(FBN1):c.3081A>T (p.Lys1027Asn)
|
rs1555398771
|
|
NM_000138.5(FBN1):c.3081del (p.Asp1028fs)
|
rs1555398774
|
|
NM_000138.5(FBN1):c.3082+11dup
|
|
|
NM_000138.5(FBN1):c.3082+12C>G
|
|
|
NM_000138.5(FBN1):c.3082+12C>T
|
|
|
NM_000138.5(FBN1):c.3082+1G>A
|
rs886038996
|
|
NM_000138.5(FBN1):c.3082+2T>C
|
|
|
NM_000138.5(FBN1):c.3082+8G>A
|
|
|
NM_000138.5(FBN1):c.3082+9T>C
|
rs746303949
|
|
NM_000138.5(FBN1):c.3082+9T>G
|
rs746303949
|
|
NM_000138.5(FBN1):c.3083-18A>G
|
|
|
NM_000138.5(FBN1):c.3083-1G>C
|
rs2141295345
|
|
NM_000138.5(FBN1):c.3083-1G>T
|
rs2141295345
|
|
NM_000138.5(FBN1):c.3083-2A>C
|
rs2043529474
|
|
NM_000138.5(FBN1):c.3083-9T>C
|
|
|
NM_000138.5(FBN1):c.3083A>C (p.Asp1028Ala)
|
|
|
NM_000138.5(FBN1):c.3083A>G (p.Asp1028Gly)
|
rs1131691317
|
|
NM_000138.5(FBN1):c.3083A>T (p.Asp1028Val)
|
rs1131691317
|
|
NM_000138.5(FBN1):c.3089_3092del (p.Asn1030fs)
|
|
|
NM_000138.5(FBN1):c.3089del (p.Asn1030fs)
|
|
|
NM_000138.5(FBN1):c.3091G>T (p.Glu1031Ter)
|
rs1555398685
|
|
NM_000138.5(FBN1):c.3095G>A (p.Cys1032Tyr)
|
rs137854481
|
|
NM_000138.5(FBN1):c.3096C>A (p.Cys1032Ter)
|
rs1597564359
|
|
NM_000138.5(FBN1):c.3098del (p.Lys1033fs)
|
rs1555398683
|
|
NM_000138.5(FBN1):c.309del (p.Ser104fs)
|
rs2140733940
|
|
NM_000138.5(FBN1):c.30C>A (p.Ala10=)
|
rs1373206190
|
|
NM_000138.5(FBN1):c.30C>T (p.Ala10=)
|
|
|
NM_000138.5(FBN1):c.3102G>A (p.Met1034Ile)
|
|
|
NM_000138.5(FBN1):c.3107C>T (p.Pro1036Leu)
|
|
|
NM_000138.5(FBN1):c.3109_3112dup (p.Leu1038fs)
|
rs2043529080
|
|
NM_000138.5(FBN1):c.3111C>T (p.Ser1037=)
|
rs2141295290
|
|
NM_000138.5(FBN1):c.3115T>C (p.Cys1039Arg)
|
|
|
NM_000138.5(FBN1):c.3116G>A (p.Cys1039Tyr)
|
rs2141295277
|
|
NM_000138.5(FBN1):c.3123C>A (p.His1041Gln)
|
|
|
NM_000138.5(FBN1):c.3123C>T (p.His1041=)
|
rs576395584
|
|
NM_000138.5(FBN1):c.3124G>A (p.Gly1042Ser)
|
rs1555398681
|
|
NM_000138.5(FBN1):c.3126C>T (p.Gly1042=)
|
rs1566909928
|
|
NM_000138.5(FBN1):c.3126del (p.Lys1043fs)
|
|
|
NM_000138.5(FBN1):c.3128_3148del (p.Lys1043_Gly1049del)
|
|
|
NM_000138.5(FBN1):c.3129G>T (p.Lys1043Asn)
|
rs749552425
|
|
NM_000138.5(FBN1):c.3130T>A (p.Cys1044Ser)
|
|
|
NM_000138.5(FBN1):c.3130T>G (p.Cys1044Gly)
|
rs2141295251
|
|
NM_000138.5(FBN1):c.3131G>A (p.Cys1044Tyr)
|
rs730880100
|
|
NM_000138.5(FBN1):c.3132C>A (p.Cys1044Ter)
|
rs1555398677
|
|
NM_000138.5(FBN1):c.3136A>C (p.Asn1046His)
|
rs2141295243
|
|
NM_000138.5(FBN1):c.3137A>G (p.Asn1046Ser)
|
rs2141295239
|
|
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.3144T>A (p.Ile1048=)
|
rs112384723
|
|
NM_000138.5(FBN1):c.3144del (p.Ile1048fs)
|
rs1555398672
|
|
NM_000138.5(FBN1):c.3146G>A (p.Gly1049Asp)
|
rs1555398670
|
|
NM_000138.5(FBN1):c.3149G>C (p.Ser1050Thr)
|
rs987202268
|
|
NM_000138.5(FBN1):c.3149G>T (p.Ser1050Ile)
|
rs987202268
|
|
NM_000138.5(FBN1):c.3149del (p.Ser1050fs)
|
rs2141295207
|
|
NM_000138.5(FBN1):c.3152T>C (p.Phe1051Ser)
|
rs1555398668
|
|
NM_000138.5(FBN1):c.3157T>A (p.Cys1053Ser)
|
rs1555398667
|
|
NM_000138.5(FBN1):c.3157T>G (p.Cys1053Gly)
|
rs1555398667
|
|
NM_000138.5(FBN1):c.3158G>A (p.Cys1053Tyr)
|
rs2043528397
|
|
NM_000138.5(FBN1):c.3159C>G (p.Cys1053Trp)
|
rs886039054
|
|
NM_000138.5(FBN1):c.315_318dup (p.Ile107fs)
|
rs1597631624
|
|
NM_000138.5(FBN1):c.3162G>C (p.Arg1054Ser)
|
rs746021219
|
|
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.3165T>G (p.Cys1055Trp)
|
rs1060501040
|
|
NM_000138.5(FBN1):c.3166del (p.Asp1056fs)
|
rs1060501013
|
|
NM_000138.5(FBN1):c.3172G>A (p.Gly1058Ser)
|
rs886039208
|
|
NM_000138.5(FBN1):c.3173G>A (p.Gly1058Asp)
|
rs794728202
|
|
NM_000138.5(FBN1):c.3173G>T (p.Gly1058Val)
|
rs794728202
|
|
NM_000138.5(FBN1):c.3181del (p.Asp1062fs)
|
|
|
NM_000138.5(FBN1):c.3192del (p.Glu1065fs)
|
rs1131692050
|
|
NM_000138.5(FBN1):c.3193del (p.Glu1065fs)
|
rs193922198
|
|
NM_000138.5(FBN1):c.319A>G (p.Ile107Val)
|
|
|
NM_000138.5(FBN1):c.319A>T (p.Ile107Leu)
|
rs2140733930
|
|
NM_000138.5(FBN1):c.31C>G (p.Leu11Val)
|
|
|
NM_000138.5(FBN1):c.3201C>T (p.Asn1067=)
|
|
|
NM_000138.5(FBN1):c.3202T>C (p.Cys1068Arg)
|
rs1293095681
|
|
NM_000138.5(FBN1):c.3203G>A (p.Cys1068Tyr)
|
rs1555398659
|
|
NM_000138.5(FBN1):c.3203G>C (p.Cys1068Ser)
|
rs1555398659
|
|
NM_000138.5(FBN1):c.3204C>A (p.Cys1068Ter)
|
rs886038248
|
|
NM_000138.5(FBN1):c.3205A>G (p.Thr1069Ala)
|
rs761632843
|
|
NM_000138.5(FBN1):c.3208+10T>C
|
rs1597564173
|
|
NM_000138.5(FBN1):c.3208+13G>A
|
rs2043527577
|
|
NM_000138.5(FBN1):c.3208+14C>G
|
|
|
NM_000138.5(FBN1):c.3208+5G>A
|
rs1555398657
|
|
NM_000138.5(FBN1):c.3208+5G>C
|
rs1555398657
|
|
NM_000138.5(FBN1):c.3208+7T>A
|
|
|
NM_000138.5(FBN1):c.3209-11T>G
|
|
|
NM_000138.5(FBN1):c.3209-13T>C
|
|
|
NM_000138.5(FBN1):c.3209-19A>G
|
|
|
NM_000138.5(FBN1):c.3209-1G>C
|
rs886038956
|
|
NM_000138.5(FBN1):c.3209-2A>C
|
rs2043526284
|
|
NM_000138.5(FBN1):c.3209-3del
|
rs2141294880
|
|
NM_000138.5(FBN1):c.3209-6G>C
|
rs942309418
|
|
NM_000138.5(FBN1):c.3209-7T>A
|
rs1459153455
|
|
NM_000138.5(FBN1):c.3209-7del
|
rs2043526375
|
|
NM_000138.5(FBN1):c.3209A>G (p.Asp1070Gly)
|
rs1555398648
|
|
NM_000138.5(FBN1):c.320_321del (p.Ile107fs)
|
rs730880108
|
|
NM_000138.5(FBN1):c.3210C>T (p.Asp1070=)
|
rs754970748
|
|
NM_000138.5(FBN1):c.3211del (p.Ile1071fs)
|
rs1597564038
|
|
NM_000138.5(FBN1):c.3212T>G (p.Ile1071Ser)
|
rs1555398647
|
|
NM_000138.5(FBN1):c.3213T>A (p.Ile1071=)
|
|
|
NM_000138.5(FBN1):c.3214G>C (p.Asp1072His)
|
rs778867355
|
|
NM_000138.5(FBN1):c.3217G>A (p.Glu1073Lys)
|
rs137854478
|
|
NM_000138.5(FBN1):c.3217G>T (p.Glu1073Ter)
|
rs137854478
|
|
NM_000138.5(FBN1):c.3218A>G (p.Glu1073Gly)
|
|
|
NM_000138.5(FBN1):c.3220T>C (p.Cys1074Arg)
|
rs137854465
|
|
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.3225_3228dup (p.Ser1077fs)
|
rs2141294801
|
|
NM_000138.5(FBN1):c.3227T>C (p.Ile1076Thr)
|
|
|
NM_000138.5(FBN1):c.3227dup (p.Ser1077fs)
|
rs2141294808
|
|
NM_000138.5(FBN1):c.3228_3232dup (p.Pro1078fs)
|
rs2141294789
|
|
NM_000138.5(FBN1):c.3235_3239del (p.Asp1079fs)
|
rs1555398642
|
|
NM_000138.5(FBN1):c.3238C>T (p.Leu1080Phe)
|
|
|
NM_000138.5(FBN1):c.3239T>C (p.Leu1080Pro)
|
rs2043525655
|
|
NM_000138.5(FBN1):c.3239T>G (p.Leu1080Arg)
|
rs2043525655
|
|
NM_000138.5(FBN1):c.3250G>C (p.Gly1084Arg)
|
rs112553035
|
|
NM_000138.5(FBN1):c.3253C>T (p.Gln1085Ter)
|
rs1555398640
|
|
NM_000138.5(FBN1):c.3254A>G (p.Gln1085Arg)
|
rs1031572615
|
|
NM_000138.5(FBN1):c.3256T>C (p.Cys1086Arg)
|
rs1555398637
|
|
NM_000138.5(FBN1):c.3256T>G (p.Cys1086Gly)
|
rs1555398637
|
|
NM_000138.5(FBN1):c.3257G>A (p.Cys1086Tyr)
|
rs137854484
|
|
NM_000138.5(FBN1):c.3259G>A (p.Val1087Met)
|
|
|
NM_000138.5(FBN1):c.3263A>G (p.Asn1088Ser)
|
rs1555398635
|
|
NM_000138.5(FBN1):c.3264C>A (p.Asn1088Lys)
|
rs2043525387
|
|
NM_000138.5(FBN1):c.3265A>G (p.Thr1089Ala)
|
|
|
NM_000138.5(FBN1):c.3268C>T (p.Pro1090Ser)
|
rs1555398633
|
|
NM_000138.5(FBN1):c.3269del (p.Pro1090fs)
|
rs35656954
|
|
NM_000138.5(FBN1):c.3271G>T (p.Gly1091Trp)
|
rs2141294717
|
|
NM_000138.5(FBN1):c.3272G>A (p.Gly1091Glu)
|
rs1566909798
|
|
NM_000138.5(FBN1):c.3274del (p.Asp1092fs)
|
rs397515788
|
|
NM_000138.5(FBN1):c.3284G>A (p.Cys1095Tyr)
|
rs1597563934
|
|
NM_000138.5(FBN1):c.3284G>C (p.Cys1095Ser)
|
rs1597563934
|
|
NM_000138.5(FBN1):c.3287A>G (p.Lys1096Arg)
|
|
|
NM_000138.5(FBN1):c.3290G>A (p.Cys1097Tyr)
|
rs1555398627
|
|
NM_000138.5(FBN1):c.3297A>G (p.Glu1099=)
|
rs1555398626
|
|
NM_000138.5(FBN1):c.3297A>T (p.Glu1099Asp)
|
rs1555398626
|
|
NM_000138.5(FBN1):c.3299G>A (p.Gly1100Asp)
|
|
|
NM_000138.5(FBN1):c.3299G>C (p.Gly1100Ala)
|
rs112547596
|
|
NM_000138.5(FBN1):c.3299G>T (p.Gly1100Val)
|
rs112547596
|
|
NM_000138.5(FBN1):c.32T>A (p.Leu11Gln)
|
rs1555407429
|
|
NM_000138.5(FBN1):c.32T>G (p.Leu11Arg)
|
rs1555407429
|
|
NM_000138.5(FBN1):c.32_42del (p.Leu11fs)
|
rs397515785
|
|
NM_000138.5(FBN1):c.3302A>G (p.Tyr1101Cys)
|
rs1555398625
|
|
NM_000138.5(FBN1):c.3303T>A (p.Tyr1101Ter)
|
rs1555398624
|
|
NM_000138.5(FBN1):c.3303T>C (p.Tyr1101=)
|
rs1555398624
|
|
NM_000138.5(FBN1):c.3315C>G (p.Phe1105Leu)
|
|
|
NM_000138.5(FBN1):c.3318del (p.Met1106fs)
|
rs2141294624
|
|
NM_000138.5(FBN1):c.3319A>G (p.Met1107Val)
|
|
|
NM_000138.5(FBN1):c.331T>C (p.Cys111Arg)
|
|
|
NM_000138.5(FBN1):c.3320_3321del (p.Met1107fs)
|
rs2141294618
|
|
NM_000138.5(FBN1):c.3320_3323dup (p.Met1108fs)
|
rs1555398622
|
|
NM_000138.5(FBN1):c.3321G>A (p.Met1107Ile)
|
|
|
NM_000138.5(FBN1):c.3331T>G (p.Cys1111Gly)
|
rs2141294587
|
|
NM_000138.5(FBN1):c.3332G>A (p.Cys1111Tyr)
|
rs1566909766
|
|
NM_000138.5(FBN1):c.3332G>C (p.Cys1111Ser)
|
|
|
NM_000138.5(FBN1):c.3334A>T (p.Met1112Leu)
|
|
|
NM_000138.5(FBN1):c.3337+13del
|
rs563620440
|
|
NM_000138.5(FBN1):c.3337+15A>T
|
|
|
NM_000138.5(FBN1):c.3337+1G>A
|
rs397515789
|
|
NM_000138.5(FBN1):c.3337+1G>T
|
rs397515789
|
|
NM_000138.5(FBN1):c.3337+1del
|
rs1566909762
|
|
NM_000138.5(FBN1):c.3337+1dup
|
rs1566909762
|
|
NM_000138.5(FBN1):c.3337+2T>C
|
rs2141294575
|
|
NM_000138.5(FBN1):c.3338-16C>T
|
|
|
NM_000138.5(FBN1):c.3338-18del
|
|
|
NM_000138.5(FBN1):c.3338-1G>C
|
rs2141293811
|
|
NM_000138.5(FBN1):c.3338-2A>G
|
rs2141293812
|
|
NM_000138.5(FBN1):c.3338A>G (p.Asp1113Gly)
|
rs140597
|
|
NM_000138.5(FBN1):c.3343G>T (p.Asp1115Tyr)
|
|
|
NM_000138.5(FBN1):c.3344A>G (p.Asp1115Gly)
|
rs794728203
|
|
NM_000138.5(FBN1):c.3346G>A (p.Glu1116Lys)
|
rs1555398582
|
|
NM_000138.5(FBN1):c.3347A>G (p.Glu1116Gly)
|
rs1566909547
|
|
NM_000138.5(FBN1):c.3347_3348del (p.Glu1116fs)
|
rs1555398580
|
|
NM_000138.5(FBN1):c.3349T>C (p.Cys1117Arg)
|
rs2141293770
|
|
NM_000138.5(FBN1):c.3349del (p.Cys1117fs)
|
rs1597563316
|
|
NM_000138.5(FBN1):c.3350G>A (p.Cys1117Tyr)
|
rs137854470
|
|
NM_000138.5(FBN1):c.3362del (p.Pro1121fs)
|
|
|
NM_000138.5(FBN1):c.3366C>T (p.Leu1122=)
|
rs2141293747
|
|
NM_000138.5(FBN1):c.336C>T (p.Gly112=)
|
rs1555405526
|
|
NM_000138.5(FBN1):c.336dup (p.Ser113fs)
|
rs1555405528
|
|
NM_000138.5(FBN1):c.3370T>C (p.Cys1124Arg)
|
rs2141293730
|
|
NM_000138.5(FBN1):c.3370T>G (p.Cys1124Gly)
|
rs2141293730
|
|
NM_000138.5(FBN1):c.3371G>C (p.Cys1124Ser)
|
rs2141293726
|
|
NM_000138.5(FBN1):c.3372_3376del (p.Cys1124fs)
|
rs1597563280
|
|
NM_000138.5(FBN1):c.3373C>T (p.Arg1125Ter)
|
rs727505006
|
|
NM_000138.5(FBN1):c.3374_3379delinsAAAGT (p.Arg1125fs)
|
rs1597563274
|
|
NM_000138.5(FBN1):c.3375dup (p.Gly1126fs)
|
rs1597563287
|
|
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.3382G>C (p.Val1128Leu)
|
rs1555398573
|
|
NM_000138.5(FBN1):c.3383_3386dup (p.His1130fs)
|
rs2141293686
|
|
NM_000138.5(FBN1):c.3385T>C (p.Cys1129Arg)
|
rs2043517941
|
|
NM_000138.5(FBN1):c.3386G>A (p.Cys1129Tyr)
|
rs137854482
|
|
NM_000138.5(FBN1):c.3388del (p.His1130fs)
|
rs1555398572
|
|
NM_000138.5(FBN1):c.338C>G (p.Ser113Cys)
|
rs869025403
|
|
NM_000138.5(FBN1):c.3390T>C (p.His1130=)
|
|
|
NM_000138.5(FBN1):c.3391A>T (p.Asn1131Tyr)
|
rs137854473
|
|
NM_000138.5(FBN1):c.3392A>G (p.Asn1131Ser)
|
rs397515790
|
|
NM_000138.5(FBN1):c.3393C>A (p.Asn1131Lys)
|
rs775565475
|
|
NM_000138.5(FBN1):c.3394A>G (p.Thr1132Ala)
|
|
|
NM_000138.5(FBN1):c.3395_3396del (p.Thr1132fs)
|
rs2141293662
|
|
NM_000138.5(FBN1):c.3398_3399del (p.Glu1133fs)
|
rs1597563234
|
|
NM_000138.5(FBN1):c.3398_3408del (p.Glu1133fs)
|
rs1555398566
|
|
NM_000138.5(FBN1):c.339C>T (p.Ser113=)
|
|
|
NM_000138.5(FBN1):c.33G>C (p.Leu11=)
|
|
|
NM_000138.5(FBN1):c.3402A>G (p.Gly1134=)
|
|
|
NM_000138.5(FBN1):c.3407_3431dup (p.His1144delinsGlnProLeuTer)
|
|
|
NM_000138.5(FBN1):c.3407dup (p.Tyr1136Ter)
|
rs2141293639
|
|
NM_000138.5(FBN1):c.3408C>A (p.Tyr1136Ter)
|
rs1555398564
|
|
NM_000138.5(FBN1):c.3411C>T (p.Arg1137=)
|
rs878853681
|
|
NM_000138.5(FBN1):c.3412T>C (p.Cys1138Arg)
|
rs1131691806
|
|
NM_000138.5(FBN1):c.3413G>A (p.Cys1138Tyr)
|
rs397515791
|
|
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.3419G>A (p.Cys1140Tyr)
|
rs1060501075
|
|
NM_000138.5(FBN1):c.3419G>T (p.Cys1140Phe)
|
rs1060501075
|
|
NM_000138.5(FBN1):c.3425C>G (p.Pro1142Arg)
|
rs2043517357
|
|
NM_000138.5(FBN1):c.3428G>A (p.Gly1143Asp)
|
rs1163486953
|
|
NM_000138.5(FBN1):c.3431A>G (p.His1144Arg)
|
|
|
NM_000138.5(FBN1):c.3432dup (p.Gln1145fs)
|
rs1566909483
|
|
NM_000138.5(FBN1):c.3444del (p.Asn1149fs)
|
rs1555398551
|
|
NM_000138.5(FBN1):c.3447C>T (p.Asn1149=)
|
|
|
NM_000138.5(FBN1):c.3457T>C (p.Cys1153Arg)
|
rs886038877
|
|
NM_000138.5(FBN1):c.3458G>A (p.Cys1153Tyr)
|
rs140599
|
|
NM_000138.5(FBN1):c.3458G>T (p.Cys1153Phe)
|
|
|
NM_000138.5(FBN1):c.345del (p.Ile116fs)
|
|
|
NM_000138.5(FBN1):c.3460A>T (p.Ile1154Phe)
|
rs1043235195
|
|
NM_000138.5(FBN1):c.3462C>A (p.Ile1154=)
|
|
|
NM_000138.5(FBN1):c.3463+15T>A
|
rs1597563076
|
|
NM_000138.5(FBN1):c.3463+1G>A
|
rs397515792
|
|
NM_000138.5(FBN1):c.3463+1G>T
|
rs397515792
|
|
NM_000138.5(FBN1):c.3464-16_3464-14del
|
rs775944757
|
|
NM_000138.5(FBN1):c.3464-1G>A
|
rs2141293336
|
|
NM_000138.5(FBN1):c.3464-1del
|
rs2141293337
|
|
NM_000138.5(FBN1):c.3464-6C>A
|
|
|
NM_000138.5(FBN1):c.3464A>G (p.Asp1155Gly)
|
rs2141293332
|
|
NM_000138.5(FBN1):c.3464A>T (p.Asp1155Val)
|
|
|
NM_000138.5(FBN1):c.3466_3467del (p.Ile1156fs)
|
|
|
NM_000138.5(FBN1):c.347-19CTT[2]
|
rs756583965
|
|
NM_000138.5(FBN1):c.347-5del
|
rs561135562
|
|
NM_000138.5(FBN1):c.3471T>C (p.Asn1157=)
|
|
|
NM_000138.5(FBN1):c.3473A>G (p.Glu1158Gly)
|
rs1597562926
|
|
NM_000138.5(FBN1):c.3475T>C (p.Cys1159Arg)
|
rs794728205
|
|
NM_000138.5(FBN1):c.3476G>A (p.Cys1159Tyr)
|
rs1555398524
|
|
NM_000138.5(FBN1):c.3478G>T (p.Glu1160Ter)
|
rs193922199
|
|
NM_000138.5(FBN1):c.3487G>A (p.Ala1163Thr)
|
|
|
NM_000138.5(FBN1):c.3487_3488dup (p.Leu1165fs)
|
rs2043515102
|
|
NM_000138.5(FBN1):c.3497G>A (p.Cys1166Tyr)
|
rs2043515038
|
|
NM_000138.5(FBN1):c.3498C>A (p.Cys1166Ter)
|
|
|
NM_000138.5(FBN1):c.34G>T (p.Gly12Ter)
|
|
|
NM_000138.5(FBN1):c.3503A>T (p.Asn1168Ile)
|
|
|
NM_000138.5(FBN1):c.3505G>C (p.Gly1169Arg)
|
|
|
NM_000138.5(FBN1):c.3506G>A (p.Gly1169Asp)
|
rs794728330
|
|
NM_000138.5(FBN1):c.3508C>T (p.Arg1170Cys)
|
rs1366894709
|
|
NM_000138.5(FBN1):c.3508del (p.Arg1170fs)
|
rs2141293265
|
|
NM_000138.5(FBN1):c.3511T>C (p.Cys1171Arg)
|
rs2141293252
|
|
NM_000138.5(FBN1):c.3512G>A (p.Cys1171Tyr)
|
rs1555398521
|
|
NM_000138.5(FBN1):c.3513C>G (p.Cys1171Trp)
|
rs775417975
|
|
NM_000138.5(FBN1):c.3516G>C (p.Val1172=)
|
rs2141293239
|
|
NM_000138.5(FBN1):c.3518A>C (p.Asn1173Thr)
|
rs1555398520
|
|
NM_000138.5(FBN1):c.3518A>T (p.Asn1173Ile)
|
rs1555398520
|
|
NM_000138.5(FBN1):c.3518_3538del (p.Asn1173_Cys1180delinsSer)
|
rs1555398514
|
|
NM_000138.5(FBN1):c.3521T>C (p.Leu1174Pro)
|
rs1555398517
|
|
NM_000138.5(FBN1):c.3528G>A (p.Gly1176=)
|
rs902201289
|
|
NM_000138.5(FBN1):c.3529A>T (p.Lys1177Ter)
|
|
|
NM_000138.5(FBN1):c.3533A>G (p.Tyr1178Cys)
|
rs1555398515
|
|
NM_000138.5(FBN1):c.3534dup (p.Gln1179fs)
|
rs2141293209
|
|
NM_000138.5(FBN1):c.3535C>T (p.Gln1179Ter)
|
rs1364210063
|
|
NM_000138.5(FBN1):c.3537G>A (p.Gln1179=)
|
|
|
NM_000138.5(FBN1):c.3538T>C (p.Cys1180Arg)
|
rs2141293199
|
|
NM_000138.5(FBN1):c.3539G>A (p.Cys1180Tyr)
|
rs1555398513
|
|
NM_000138.5(FBN1):c.3545G>A (p.Cys1182Tyr)
|
rs1597562812
|
|
NM_000138.5(FBN1):c.3545_3548dup (p.Asn1183fs)
|
rs2141293186
|
|
NM_000138.5(FBN1):c.3546C>A (p.Cys1182Ter)
|
rs727504411
|
|
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.3557del (p.Tyr1186fs)
|
rs2043514354
|
|
NM_000138.5(FBN1):c.3558C>G (p.Tyr1186Ter)
|
rs1555398510
|
|
NM_000138.5(FBN1):c.3559dup (p.His1187fs)
|
rs1555398508
|
|
NM_000138.5(FBN1):c.355T>C (p.Cys119Arg)
|
rs2044551443
|
|
NM_000138.5(FBN1):c.3568C>A (p.Pro1190Thr)
|
|
|
NM_000138.5(FBN1):c.3569_3570delinsAA (p.Pro1190Gln)
|
rs2043514115
|
|
NM_000138.5(FBN1):c.356G>A (p.Cys119Tyr)
|
|
|
NM_000138.5(FBN1):c.3572A>G (p.Asp1191Gly)
|
|
|
NM_000138.5(FBN1):c.3574A>G (p.Arg1192Gly)
|
rs2043513994
|
|
NM_000138.5(FBN1):c.3578T>C (p.Leu1193Pro)
|
rs2141293110
|
|
NM_000138.5(FBN1):c.3579A>G (p.Leu1193=)
|
|
|
NM_000138.5(FBN1):c.3582T>C (p.Phe1194=)
|
rs2141293096
|
|
NM_000138.5(FBN1):c.3583T>G (p.Cys1195Gly)
|
rs2141293091
|
|
NM_000138.5(FBN1):c.3583del (p.Cys1195fs)
|
rs2141293095
|
|
NM_000138.5(FBN1):c.3586G>A (p.Val1196Ile)
|
rs1352765609
|
|
NM_000138.5(FBN1):c.3589+11TTTTA[7]
|
rs72158035
|
|
NM_000138.5(FBN1):c.3589+11TTTTA[8]
|
rs72158035
|
|
NM_000138.5(FBN1):c.3589+1G>T
|
rs1555398501
|
|
NM_000138.5(FBN1):c.3589+1del
|
|
|
NM_000138.5(FBN1):c.3589+3A>G
|
rs2043513649
|
|
NM_000138.5(FBN1):c.3589G>A (p.Asp1197Asn)
|
rs397515793
|
|
NM_000138.5(FBN1):c.3589G>C (p.Asp1197His)
|
rs397515793
|
|
NM_000138.5(FBN1):c.3590-10T>C
|
rs1384307516
|
|
NM_000138.5(FBN1):c.3590-11A>G
|
rs777262423
|
|
NM_000138.5(FBN1):c.3590-17_3590-15del
|
|
|
NM_000138.5(FBN1):c.3590-19T>C
|
|
|
NM_000138.5(FBN1):c.3590-2A>G
|
rs2043498977
|
|
NM_000138.5(FBN1):c.3590-9T>A
|
|
|
NM_000138.5(FBN1):c.3590A>G (p.Asp1197Gly)
|
rs112025387
|
|
NM_000138.5(FBN1):c.3590A>T (p.Asp1197Val)
|
rs112025387
|
|
NM_000138.5(FBN1):c.3595_3608dup (p.Ile1203fs)
|
rs1566908947
|
|
NM_000138.5(FBN1):c.3596A>G (p.Asp1199Gly)
|
rs794728206
|
|
NM_000138.5(FBN1):c.3598G>A (p.Glu1200Lys)
|
|
|
NM_000138.5(FBN1):c.3599A>T (p.Glu1200Val)
|
rs1566908956
|
|
NM_000138.5(FBN1):c.359A>G (p.Asn120Ser)
|
rs753900024
|
|
NM_000138.5(FBN1):c.359A>T (p.Asn120Ile)
|
rs753900024
|
|
NM_000138.5(FBN1):c.3602G>A (p.Cys1201Tyr)
|
rs1555398413
|
|
NM_000138.5(FBN1):c.3603C>A (p.Cys1201Ter)
|
|
|
NM_000138.5(FBN1):c.3605G>A (p.Ser1202Asn)
|
rs758542279
|
|
NM_000138.5(FBN1):c.3605_3606delinsTT (p.Ser1202Ile)
|
rs2043498514
|
|
NM_000138.5(FBN1):c.3613_3616del (p.Asn1205fs)
|
rs2141291389
|
|
NM_000138.5(FBN1):c.3616G>A (p.Gly1206Ser)
|
|
|
NM_000138.5(FBN1):c.3616G>C (p.Gly1206Arg)
|
rs1555398411
|
|
NM_000138.5(FBN1):c.3616G>T (p.Gly1206Cys)
|
rs1555398411
|
|
NM_000138.5(FBN1):c.3617G>A (p.Gly1206Asp)
|
rs1555398409
|
|
NM_000138.5(FBN1):c.3617G>T (p.Gly1206Val)
|
|
|
NM_000138.5(FBN1):c.3623G>T (p.Cys1208Phe)
|
rs1555398406
|
|
NM_000138.5(FBN1):c.3623del (p.Cys1208fs)
|
rs1555398407
|
|
NM_000138.5(FBN1):c.3624T>A (p.Cys1208Ter)
|
rs765842423
|
|
NM_000138.5(FBN1):c.3624T>G (p.Cys1208Trp)
|
|
|
NM_000138.5(FBN1):c.3625_3627dup (p.Glu1209_Thr1210insGlu)
|
|
|
NM_000138.5(FBN1):c.3626A>T (p.Glu1209Val)
|
rs1597561500
|
|
NM_000138.5(FBN1):c.362_363dup (p.Arg122fs)
|
rs2044551389
|
|
NM_000138.5(FBN1):c.3632T>C (p.Phe1211Ser)
|
|
|
NM_000138.5(FBN1):c.3632_3634del (p.Phe1211del)
|
rs1555398404
|
|
NM_000138.5(FBN1):c.3634T>C (p.Cys1212Arg)
|
rs2043497933
|
|
NM_000138.5(FBN1):c.3635G>A (p.Cys1212Tyr)
|
rs1057522908
|
|
NM_000138.5(FBN1):c.3640_3641del (p.Asn1214fs)
|
rs2141291345
|
|
NM_000138.5(FBN1):c.3641A>G (p.Asn1214Ser)
|
rs1555398401
|
|
NM_000138.5(FBN1):c.3643T>C (p.Ser1215Pro)
|
|
|
NM_000138.5(FBN1):c.3644C>T (p.Ser1215Phe)
|
|
|
NM_000138.5(FBN1):c.3644_3645del (p.Asn1214_Ser1215insTer)
|
|
|
NM_000138.5(FBN1):c.364C>T (p.Arg122Cys)
|
rs137854467
|
|
NM_000138.5(FBN1):c.3650G>A (p.Gly1217Asp)
|
rs1555398397
|
|
NM_000138.5(FBN1):c.3656A>C (p.Tyr1219Ser)
|
|
|
NM_000138.5(FBN1):c.3656A>G (p.Tyr1219Cys)
|
rs1555398394
|
|
NM_000138.5(FBN1):c.3656dup (p.Tyr1219Ter)
|
rs1555398395
|
|
NM_000138.5(FBN1):c.3661T>A (p.Cys1221Ser)
|
rs2141291310
|
|
NM_000138.5(FBN1):c.3661T>C (p.Cys1221Arg)
|
rs2141291310
|
|
NM_000138.5(FBN1):c.3661dup (p.Cys1221fs)
|
|
|
NM_000138.5(FBN1):c.3662G>A (p.Cys1221Tyr)
|
rs137854483
|
|
NM_000138.5(FBN1):c.3668G>A (p.Cys1223Tyr)
|
rs137854469
|
|
NM_000138.5(FBN1):c.3671A>G (p.Gln1224Arg)
|
rs2141291295
|
|
NM_000138.5(FBN1):c.3677G>T (p.Gly1226Val)
|
rs1555398387
|
|
NM_000138.5(FBN1):c.367del (p.Cys123fs)
|
rs2140718246
|
|
NM_000138.5(FBN1):c.3681T>G (p.Phe1227Leu)
|
rs2043497341
|
|
NM_000138.5(FBN1):c.368G>A (p.Cys123Tyr)
|
rs397515794
|
|
NM_000138.5(FBN1):c.368G>C (p.Cys123Ser)
|
rs397515794
|
|
NM_000138.5(FBN1):c.3693_3697del (p.Asp1232fs)
|
|
|
NM_000138.5(FBN1):c.3694G>A (p.Asp1232Asn)
|
|
|
NM_000138.5(FBN1):c.3697C>T (p.Gln1233Ter)
|
|
|
NM_000138.5(FBN1):c.3702A>T (p.Arg1234Ser)
|
|
|
NM_000138.5(FBN1):c.3703T>C (p.Ser1235Pro)
|
rs1555398382
|
|
NM_000138.5(FBN1):c.3704C>G (p.Ser1235Ter)
|
rs2141291261
|
|
NM_000138.5(FBN1):c.3704del (p.Ser1235fs)
|
|
|
NM_000138.5(FBN1):c.3706T>C (p.Cys1236Arg)
|
rs1555398380
|
|
NM_000138.5(FBN1):c.3706T>G (p.Cys1236Gly)
|
rs1555398380
|
|
NM_000138.5(FBN1):c.3707G>A (p.Cys1236Tyr)
|
rs1555398377
|
|
NM_000138.5(FBN1):c.3712+16C>T
|
|
|
NM_000138.5(FBN1):c.3712+1G>T
|
rs794728209
|
|
NM_000138.5(FBN1):c.3712+9G>A
|
|
|
NM_000138.5(FBN1):c.3712+9G>T
|
rs769251450
|
|
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.3713-17G>T
|
|
|
NM_000138.5(FBN1):c.3713-1G>T
|
rs2141289776
|
|
NM_000138.5(FBN1):c.3713-2A>C
|
|
|
NM_000138.5(FBN1):c.3713-4G>A
|
rs2141289788
|
|
NM_000138.5(FBN1):c.3721G>A (p.Glu1241Lys)
|
|
|
NM_000138.5(FBN1):c.3721_3732del (p.Glu1241_Asp1244del)
|
|
|
NM_000138.5(FBN1):c.3722A>G (p.Glu1241Gly)
|
rs2043485666
|
|
NM_000138.5(FBN1):c.3724T>C (p.Cys1242Arg)
|
rs2141289747
|
|
NM_000138.5(FBN1):c.3725G>A (p.Cys1242Tyr)
|
rs137854471
|
|
NM_000138.5(FBN1):c.3726T>G (p.Cys1242Trp)
|
|
|
NM_000138.5(FBN1):c.372G>A (p.Met124Ile)
|
rs1555405050
|
|
NM_000138.5(FBN1):c.3730G>A (p.Asp1244Asn)
|
|
|
NM_000138.5(FBN1):c.3745T>G (p.Cys1249Gly)
|
|
|
NM_000138.5(FBN1):c.3746G>A (p.Cys1249Tyr)
|
|
|
NM_000138.5(FBN1):c.3746G>C (p.Cys1249Ser)
|
rs137854458
|
|
NM_000138.5(FBN1):c.3748G>T (p.Asp1250Tyr)
|
rs1555398288
|
|
NM_000138.5(FBN1):c.3757C>T (p.Gln1253Ter)
|
rs1131691311
|
|
NM_000138.5(FBN1):c.3758A>C (p.Gln1253Pro)
|
|
|
NM_000138.5(FBN1):c.3759G>C (p.Gln1253His)
|
rs2141289701
|
|
NM_000138.5(FBN1):c.3759del (p.Gln1253fs)
|
rs1555398287
|
|
NM_000138.5(FBN1):c.3766A>C (p.Asn1256His)
|
rs772890884
|
|
NM_000138.5(FBN1):c.3766A>G (p.Asn1256Asp)
|
rs772890884
|
|
NM_000138.5(FBN1):c.376G>T (p.Gly126Ter)
|
rs1597625734
|
|
NM_000138.5(FBN1):c.3772C>T (p.Pro1258Ser)
|
rs397515795
|
|
NM_000138.5(FBN1):c.3778G>T (p.Glu1260Ter)
|
rs1555398283
|
|
NM_000138.5(FBN1):c.3780G>A (p.Glu1260=)
|
|
|
NM_000138.5(FBN1):c.3783del (p.Glu1260_Tyr1261insTer)
|
rs1555398282
|
|
NM_000138.5(FBN1):c.3786G>A (p.Arg1262=)
|
rs1555398280
|
|
NM_000138.5(FBN1):c.3786G>T (p.Arg1262Ser)
|
rs1555398280
|
|
NM_000138.5(FBN1):c.3788G>T (p.Cys1263Phe)
|
|
|
NM_000138.5(FBN1):c.378A>C (p.Gly126=)
|
|
|
NM_000138.5(FBN1):c.3793T>C (p.Cys1265Arg)
|
rs137854474
|
|
NM_000138.5(FBN1):c.3793_3799del (p.Cys1265fs)
|
rs1555398276
|
|
NM_000138.5(FBN1):c.3794G>A (p.Cys1265Tyr)
|
|
|
NM_000138.5(FBN1):c.3794G>C (p.Cys1265Ser)
|
rs1555398279
|
|
NM_000138.5(FBN1):c.3794G>T (p.Cys1265Phe)
|
rs1555398279
|
|
NM_000138.5(FBN1):c.3795T>A (p.Cys1265Ter)
|
rs1555398278
|
|
NM_000138.5(FBN1):c.379G>T (p.Gly127Cys)
|
|
|
NM_000138.5(FBN1):c.3801T>C (p.Asp1267=)
|
rs769208631
|
|
NM_000138.5(FBN1):c.3808A>T (p.Met1270Leu)
|
|
|
NM_000138.5(FBN1):c.380G>T (p.Gly127Val)
|
|
|
NM_000138.5(FBN1):c.3815C>A (p.Ser1272Tyr)
|
rs1555398270
|
|
NM_000138.5(FBN1):c.3816del (p.Glu1273fs)
|
rs2141289577
|
|
NM_000138.5(FBN1):c.381T>C (p.Gly127=)
|
|
|
NM_000138.5(FBN1):c.3823A>G (p.Met1275Val)
|
rs747414686
|
|
NM_000138.5(FBN1):c.3823_3830del (p.Met1275fs)
|
|
|
NM_000138.5(FBN1):c.3833G>A (p.Cys1278Tyr)
|
|
|
NM_000138.5(FBN1):c.3838+16A>G
|
|
|
NM_000138.5(FBN1):c.3838+18A>T
|
|
|
NM_000138.5(FBN1):c.3838+3A>T
|
rs1555398265
|
|
NM_000138.5(FBN1):c.3838G>A (p.Asp1280Asn)
|
rs794728210
|
|
NM_000138.5(FBN1):c.3839-15A>C
|
|
|
NM_000138.5(FBN1):c.3839-19T>C
|
|
|
NM_000138.5(FBN1):c.3839-20A>G
|
rs891189448
|
|
NM_000138.5(FBN1):c.3839A>T (p.Asp1280Val)
|
rs1555398179
|
|
NM_000138.5(FBN1):c.3839_3846del (p.Asp1280fs)
|
rs113603747
|
|
NM_000138.5(FBN1):c.3843C>A (p.Val1281=)
|
|
|
NM_000138.5(FBN1):c.3847G>A (p.Glu1283Lys)
|
rs1555398176
|
|
NM_000138.5(FBN1):c.3848A>C (p.Glu1283Ala)
|
rs397515796
|
|
NM_000138.5(FBN1):c.3848A>T (p.Glu1283Val)
|
rs397515796
|
|
NM_000138.5(FBN1):c.3849G>A (p.Glu1283=)
|
|
|
NM_000138.5(FBN1):c.3849del (p.Glu1283fs)
|
rs1555398174
|
|
NM_000138.5(FBN1):c.3850T>A (p.Cys1284Ser)
|
rs2043467154
|
|
NM_000138.5(FBN1):c.3850T>C (p.Cys1284Arg)
|
rs2043467154
|
|
NM_000138.5(FBN1):c.3850dup (p.Cys1284fs)
|
|
|
NM_000138.5(FBN1):c.3851G>A (p.Cys1284Tyr)
|
rs1555398173
|
|
NM_000138.5(FBN1):c.3853G>A (p.Asp1285Asn)
|
rs1555398171
|
|
NM_000138.5(FBN1):c.385T>G (p.Cys129Gly)
|
rs199474693
|
|
NM_000138.5(FBN1):c.3869T>C (p.Ile1290Thr)
|
rs2043467019
|
|
NM_000138.5(FBN1):c.386G>A (p.Cys129Tyr)
|
rs1566935517
|
|
NM_000138.5(FBN1):c.386G>T (p.Cys129Phe)
|
rs1566935517
|
|
NM_000138.5(FBN1):c.3870C>T (p.Ile1290=)
|
rs2043466994
|
|
NM_000138.5(FBN1):c.3871del (p.Cys1291fs)
|
rs2141287465
|
|
NM_000138.5(FBN1):c.3874del (p.Cys1291_Leu1292insTer)
|
rs1597559048
|
|
NM_000138.5(FBN1):c.3875T>C (p.Leu1292Pro)
|
rs2141287453
|
|
NM_000138.5(FBN1):c.3878_3891del (p.Ser1293fs)
|
|
|
NM_000138.5(FBN1):c.3881G>T (p.Gly1294Val)
|
rs1060501064
|
|
NM_000138.5(FBN1):c.3886T>C (p.Cys1296Arg)
|
rs397515797
|
|
NM_000138.5(FBN1):c.3893A>C (p.Asn1298Thr)
|
|
|
NM_000138.5(FBN1):c.3893del (p.Asn1298fs)
|
rs869025425
|
|
NM_000138.5(FBN1):c.3893dup (p.Asn1298fs)
|
rs869025425
|
|
NM_000138.5(FBN1):c.3895dup (p.Thr1299fs)
|
rs1555398160
|
|
NM_000138.5(FBN1):c.3897G>C (p.Thr1299=)
|
rs771283158
|
|
NM_000138.5(FBN1):c.38T>G (p.Phe13Cys)
|
rs773614956
|
|
NM_000138.5(FBN1):c.3900_3903del (p.Lys1300fs)
|
rs2043466554
|
|
NM_000138.5(FBN1):c.3901_3904dup (p.Ser1302fs)
|
rs2141287379
|
|
NM_000138.5(FBN1):c.3902G>T (p.Gly1301Val)
|
rs1566908083
|
|
NM_000138.5(FBN1):c.3902del (p.Gly1301fs)
|
rs2141287396
|
|
NM_000138.5(FBN1):c.3903C>T (p.Gly1301=)
|
rs1018707026
|
|
NM_000138.5(FBN1):c.3904T>C (p.Ser1302Pro)
|
rs2141287376
|
|
NM_000138.5(FBN1):c.3904_3915del (p.Ser1302_Cys1305del)
|
|
|
NM_000138.5(FBN1):c.3906dup (p.Phe1303fs)
|
rs2141287368
|
|
NM_000138.5(FBN1):c.390del (p.Ser130fs)
|
rs1555405045
|
|
NM_000138.5(FBN1):c.3914G>A (p.Cys1305Tyr)
|
|
|
NM_000138.5(FBN1):c.3915C>A (p.Cys1305Ter)
|
rs1555398152
|
|
NM_000138.5(FBN1):c.3920G>A (p.Cys1307Tyr)
|
|
|
NM_000138.5(FBN1):c.3921T>G (p.Cys1307Trp)
|
rs2043466446
|
|
NM_000138.5(FBN1):c.3921_3922del (p.Cys1307_Asp1308delinsTer)
|
|
|
NM_000138.5(FBN1):c.3925dup (p.Met1309fs)
|
|
|
NM_000138.5(FBN1):c.3928G>A (p.Gly1310Ser)
|
|
|
NM_000138.5(FBN1):c.3928G>C (p.Gly1310Arg)
|
|
|
NM_000138.5(FBN1):c.3928G>T (p.Gly1310Cys)
|
rs2043466325
|
|
NM_000138.5(FBN1):c.3929dup (p.Tyr1311fs)
|
rs2141287336
|
|
NM_000138.5(FBN1):c.3932A>G (p.Tyr1311Cys)
|
rs1555398148
|
|
NM_000138.5(FBN1):c.3936C>A (p.Ser1312=)
|
rs779913610
|
|
NM_000138.5(FBN1):c.3938G>C (p.Gly1313Ala)
|
|
|
NM_000138.5(FBN1):c.3939C>G (p.Gly1313=)
|
rs1597558962
|
|
NM_000138.5(FBN1):c.3944A>G (p.Lys1315Arg)
|
|
|
NM_000138.5(FBN1):c.3945del (p.Gly1316fs)
|
rs1555398144
|
|
NM_000138.5(FBN1):c.3945dup (p.Gly1316fs)
|
rs1555398144
|
|
NM_000138.5(FBN1):c.3947_3948delinsT (p.Gly1316fs)
|
rs1555398139
|
|
NM_000138.5(FBN1):c.394G>A (p.Asp132Asn)
|
|
|
NM_000138.5(FBN1):c.3952dup (p.Thr1318fs)
|
rs1566908063
|
|
NM_000138.5(FBN1):c.3956G>C (p.Gly1319Ala)
|
|
|
NM_000138.5(FBN1):c.3958T>C (p.Cys1320Arg)
|
rs1597558920
|
|
NM_000138.5(FBN1):c.3959G>C (p.Cys1320Ser)
|
rs113393517
|
|
NM_000138.5(FBN1):c.3959G>T (p.Cys1320Phe)
|
rs113393517
|
|
NM_000138.5(FBN1):c.3962C>T (p.Thr1321Ile)
|
rs750219182
|
|
NM_000138.5(FBN1):c.3962dup (p.Asp1322fs)
|
rs1555398137
|
|
NM_000138.5(FBN1):c.3963A>G (p.Thr1321=)
|
rs140648
|
|
NM_000138.5(FBN1):c.3963A>T (p.Thr1321=)
|
|
|
NM_000138.5(FBN1):c.3964+12C>G
|
|
|
NM_000138.5(FBN1):c.3964+13A>C
|
|
|
NM_000138.5(FBN1):c.3964+2T>C
|
|
|
NM_000138.5(FBN1):c.3964+5G>T
|
rs2043465883
|
|
NM_000138.5(FBN1):c.3964+9G>T
|
rs1412748899
|
|
NM_000138.5(FBN1):c.3964G>T (p.Asp1322Tyr)
|
|
|
NM_000138.5(FBN1):c.3965-10A>G
|
|
|
NM_000138.5(FBN1):c.3965-15dup
|
rs2043405703
|
|
NM_000138.5(FBN1):c.3965-2A>T
|
rs387906547
|
|
NM_000138.5(FBN1):c.3965A>G (p.Asp1322Gly)
|
rs1555397744
|
|
NM_000138.5(FBN1):c.3966C>T (p.Asp1322=)
|
rs2141280317
|
|
NM_000138.5(FBN1):c.3969C>A (p.Ile1323=)
|
rs536546914
|
|
NM_000138.5(FBN1):c.3971A>C (p.Asn1324Thr)
|
|
|
NM_000138.5(FBN1):c.3973G>T (p.Glu1325Ter)
|
rs2141280296
|
|
NM_000138.5(FBN1):c.3973dup (p.Glu1325fs)
|
rs1555397743
|
|
NM_000138.5(FBN1):c.3974A>C (p.Glu1325Ala)
|
rs794728331
|
|
NM_000138.5(FBN1):c.3975A>C (p.Glu1325Asp)
|
rs1555397741
|
|
NM_000138.5(FBN1):c.3975A>G (p.Glu1325=)
|
rs1555397741
|
|
NM_000138.5(FBN1):c.3976T>C (p.Cys1326Arg)
|
|
|
NM_000138.5(FBN1):c.3977G>A (p.Cys1326Tyr)
|
rs1555397738
|
|
NM_000138.5(FBN1):c.3977del (p.Cys1326fs)
|
rs2141280278
|
|
NM_000138.5(FBN1):c.3988G>A (p.Ala1330Thr)
|
|
|
NM_000138.5(FBN1):c.3988G>C (p.Ala1330Pro)
|
|
|
NM_000138.5(FBN1):c.3989C>T (p.Ala1330Val)
|
|
|
NM_000138.5(FBN1):c.3993del (p.His1331fs)
|
rs1555397736
|
|
NM_000138.5(FBN1):c.3998G>A (p.Cys1333Tyr)
|
rs2043405073
|
|
NM_000138.5(FBN1):c.3999_4000del (p.Cys1333fs)
|
|
|
NM_000138.5(FBN1):c.3G>A (p.Met1Ile)
|
rs886039072
|
|
NM_000138.5(FBN1):c.4002_4003del (p.Lys1335fs)
|
rs2141280251
|
|
NM_000138.5(FBN1):c.4003_4004insCACAACTCTGGCA (p.Lys1335fs)
|
rs1555397733
|
|
NM_000138.5(FBN1):c.4007_4010del (p.His1336fs)
|
|
|
NM_000138.5(FBN1):c.4009G>C (p.Ala1337Pro)
|
rs753648789
|
|
NM_000138.5(FBN1):c.400T>C (p.Cys134Arg)
|
rs1555405044
|
|
NM_000138.5(FBN1):c.4011del (p.Val1338fs)
|
rs2043404959
|
|
NM_000138.5(FBN1):c.4011dup (p.Val1338fs)
|
|
|
NM_000138.5(FBN1):c.4016G>A (p.Cys1339Tyr)
|
rs397515798
|
|
NM_000138.5(FBN1):c.4016G>C (p.Cys1339Ser)
|
rs397515798
|
|
NM_000138.5(FBN1):c.401G>A (p.Cys134Tyr)
|
rs1555405043
|
|
NM_000138.5(FBN1):c.4020del (p.Asn1341fs)
|
rs2141280222
|
|
NM_000138.5(FBN1):c.4022A>G (p.Asn1341Ser)
|
rs140638
|
|
NM_000138.5(FBN1):c.4023T>C (p.Asn1341=)
|
rs2043404831
|
|
NM_000138.5(FBN1):c.4024dup (p.Thr1342fs)
|
|
|
NM_000138.5(FBN1):c.4029del (p.Gly1344fs)
|
rs2043404761
|
|
NM_000138.5(FBN1):c.4031G>A (p.Gly1344Glu)
|
rs1555397725
|
|
NM_000138.5(FBN1):c.4032_4033del (p.Ser1345fs)
|
rs1555397723
|
|
NM_000138.5(FBN1):c.4033A>C (p.Ser1345Arg)
|
|
|
NM_000138.5(FBN1):c.4034G>T (p.Ser1345Ile)
|
rs767079851
|
|
NM_000138.5(FBN1):c.4035C>T (p.Ser1345=)
|
rs1400471354
|
|
NM_000138.5(FBN1):c.4036T>G (p.Phe1346Val)
|
rs1566906537
|
|
NM_000138.5(FBN1):c.4042T>C (p.Cys1348Arg)
|
rs2141280160
|
|
NM_000138.5(FBN1):c.4043G>A (p.Cys1348Tyr)
|
rs1555397720
|
|
NM_000138.5(FBN1):c.4043G>T (p.Cys1348Phe)
|
rs1555397720
|
|
NM_000138.5(FBN1):c.4044T>G (p.Cys1348Trp)
|
rs1555397719
|
|
NM_000138.5(FBN1):c.4048T>A (p.Cys1350Ser)
|
rs397515799
|
|
NM_000138.5(FBN1):c.4048T>C (p.Cys1350Arg)
|
rs397515799
|
|
NM_000138.5(FBN1):c.4048T>G (p.Cys1350Gly)
|
rs397515799
|
|
NM_000138.5(FBN1):c.4049G>A (p.Cys1350Tyr)
|
rs1555397718
|
|
NM_000138.5(FBN1):c.4049G>T (p.Cys1350Phe)
|
rs1555397718
|
|
NM_000138.5(FBN1):c.4056del (p.Trp1354fs)
|
rs1555397713
|
|
NM_000138.5(FBN1):c.4057G>C (p.Gly1353Arg)
|
rs187177496
|
|
NM_000138.5(FBN1):c.4057G>T (p.Gly1353Trp)
|
rs187177496
|
|
NM_000138.5(FBN1):c.4061G>A (p.Trp1354Ter)
|
rs1060501039
|
|
NM_000138.5(FBN1):c.4065T>A (p.Ile1355=)
|
|
|
NM_000138.5(FBN1):c.4066G>A (p.Gly1356Arg)
|
rs867460746
|
|
NM_000138.5(FBN1):c.4068A>C (p.Gly1356=)
|
rs1555397706
|
|
NM_000138.5(FBN1):c.406T>A (p.Cys136Ser)
|
rs1555405041
|
|
NM_000138.5(FBN1):c.406T>C (p.Cys136Arg)
|
rs1555405041
|
|
NM_000138.5(FBN1):c.406T>G (p.Cys136Gly)
|
rs1555405041
|
|
NM_000138.5(FBN1):c.406dup (p.Cys136fs)
|
rs1555405042
|
|
NM_000138.5(FBN1):c.4079del (p.Lys1360fs)
|
rs2141280061
|
|
NM_000138.5(FBN1):c.407G>A (p.Cys136Tyr)
|
|
|
NM_000138.5(FBN1):c.407G>T (p.Cys136Phe)
|
|
|
NM_000138.5(FBN1):c.4081T>C (p.Cys1361Arg)
|
rs1566906506
|
|
NM_000138.5(FBN1):c.4082G>A (p.Cys1361Tyr)
|
rs1555397704
|
|
NM_000138.5(FBN1):c.4085C>G (p.Thr1362Ser)
|
|
|
NM_000138.5(FBN1):c.4087+1G>A
|
rs387906548
|
|
NM_000138.5(FBN1):c.4087+5G>A
|
rs1555397692
|
|
NM_000138.5(FBN1):c.4087G>T (p.Asp1363Tyr)
|
|
|
NM_000138.5(FBN1):c.4088-13C>T
|
|
|
NM_000138.5(FBN1):c.4088-14C>A
|
|
|
NM_000138.5(FBN1):c.4088-15A>C
|
|
|
NM_000138.5(FBN1):c.4088-17T>C
|
rs1397067049
|
|
NM_000138.5(FBN1):c.4088-2A>C
|
rs1555397671
|
|
NM_000138.5(FBN1):c.4088-2A>G
|
|
|
NM_000138.5(FBN1):c.4088-8T>C
|
|
|
NM_000138.5(FBN1):c.4088-8del
|
rs1325437178
|
|
NM_000138.5(FBN1):c.4088A>T (p.Asp1363Val)
|
rs2043402890
|
|
NM_000138.5(FBN1):c.408C>A (p.Cys136Ter)
|
rs1555405039
|
|
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.4096G>C (p.Glu1366Gln)
|
rs763449629
|
|
NM_000138.5(FBN1):c.4098dup (p.Cys1367fs)
|
|
|
NM_000138.5(FBN1):c.4099T>A (p.Cys1367Ser)
|
rs1555397670
|
|
NM_000138.5(FBN1):c.4099T>C (p.Cys1367Arg)
|
rs1555397670
|
|
NM_000138.5(FBN1):c.409C>T (p.Gln137Ter)
|
rs1060501047
|
|
NM_000138.5(FBN1):c.40dup (p.Thr14fs)
|
|
|
NM_000138.5(FBN1):c.4100G>A (p.Cys1367Tyr)
|
rs2141279869
|
|
NM_000138.5(FBN1):c.4101T>A (p.Cys1367Ter)
|
|
|
NM_000138.5(FBN1):c.4107T>C (p.Asn1369=)
|
rs765588220
|
|
NM_000138.5(FBN1):c.4111A>G (p.Thr1371Ala)
|
|
|
NM_000138.5(FBN1):c.4120T>C (p.Cys1374Arg)
|
rs2141279837
|
|
NM_000138.5(FBN1):c.4120T>G (p.Cys1374Gly)
|
rs2141279837
|
|
NM_000138.5(FBN1):c.4121G>A (p.Cys1374Tyr)
|
rs2141279835
|
|
NM_000138.5(FBN1):c.4125C>G (p.Ser1375Arg)
|
rs1555397666
|
|
NM_000138.5(FBN1):c.4127A>G (p.Gln1376Arg)
|
rs1597553861
|
|
NM_000138.5(FBN1):c.4130A>T (p.His1377Leu)
|
rs1238143005
|
|
NM_000138.5(FBN1):c.4134A>T (p.Ala1378=)
|
|
|
NM_000138.5(FBN1):c.4139G>A (p.Cys1380Tyr)
|
|
|
NM_000138.5(FBN1):c.4143G>C (p.Lys1381Asn)
|
rs2043402274
|
|
NM_000138.5(FBN1):c.4144A>T (p.Asn1382Tyr)
|
|
|
NM_000138.5(FBN1):c.4145A>T (p.Asn1382Ile)
|
rs1555397661
|
|
NM_000138.5(FBN1):c.4145dup (p.Asn1382fs)
|
rs1555397663
|
|
NM_000138.5(FBN1):c.4146T>C (p.Asn1382=)
|
|
|
NM_000138.5(FBN1):c.4149C>G (p.Thr1383=)
|
|
|
NM_000138.5(FBN1):c.4149_4154del (p.Met1384_Gly1385del)
|
|
|
NM_000138.5(FBN1):c.4151T>C (p.Met1384Thr)
|
rs1555397658
|
|
NM_000138.5(FBN1):c.4152G>A (p.Met1384Ile)
|
rs1488326228
|
|
NM_000138.5(FBN1):c.4154del (p.Gly1385fs)
|
rs2043402092
|
|
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.415G>T (p.Gly139Ter)
|
|
|
NM_000138.5(FBN1):c.4160A>G (p.Tyr1387Cys)
|
rs397515801
|
|
NM_000138.5(FBN1):c.4161C>A (p.Tyr1387Ter)
|
|
|
NM_000138.5(FBN1):c.4162C>A (p.Arg1388Ser)
|
rs770860280
|
|
NM_000138.5(FBN1):c.4163G>C (p.Arg1388Pro)
|
rs749196340
|
|
NM_000138.5(FBN1):c.4163G>T (p.Arg1388Leu)
|
rs749196340
|
|
NM_000138.5(FBN1):c.4164C>A (p.Arg1388=)
|
|
|
NM_000138.5(FBN1):c.4165T>G (p.Cys1389Gly)
|
rs193922203
|
|
NM_000138.5(FBN1):c.4166G>A (p.Cys1389Tyr)
|
rs1060501026
|
|
NM_000138.5(FBN1):c.4166G>C (p.Cys1389Ser)
|
rs1060501026
|
|
NM_000138.5(FBN1):c.4168_4171del (p.Leu1390fs)
|
rs1555397655
|
|
NM_000138.5(FBN1):c.4172G>A (p.Cys1391Tyr)
|
rs1352478541
|
|
NM_000138.5(FBN1):c.4174A>G (p.Lys1392Glu)
|
rs756683929
|
|
NM_000138.5(FBN1):c.4177_4199del (p.Glu1393fs)
|
rs1566906389
|
|
NM_000138.5(FBN1):c.4177del (p.Glu1393fs)
|
rs2043401705
|
|
NM_000138.5(FBN1):c.4179A>G (p.Glu1393=)
|
rs1597553731
|
|
NM_000138.5(FBN1):c.4179_4182del (p.Glu1393fs)
|
|
|
NM_000138.5(FBN1):c.4180G>T (p.Gly1394Ter)
|
rs2141279711
|
|
NM_000138.5(FBN1):c.4183T>C (p.Tyr1395His)
|
rs1555397653
|
|
NM_000138.5(FBN1):c.4185C>T (p.Tyr1395=)
|
rs2043401602
|
|
NM_000138.5(FBN1):c.4187C>T (p.Thr1396Ile)
|
rs2043401571
|
|
NM_000138.5(FBN1):c.4188del (p.Gly1397fs)
|
rs1555397652
|
|
NM_000138.5(FBN1):c.4190G>T (p.Gly1397Val)
|
rs747867726
|
|
NM_000138.5(FBN1):c.4191T>C (p.Gly1397=)
|
|
|
NM_000138.5(FBN1):c.4192G>A (p.Asp1398Asn)
|
rs1597553721
|
|
NM_000138.5(FBN1):c.4193A>G (p.Asp1398Gly)
|
rs781045902
|
|
NM_000138.5(FBN1):c.4196_4197insA (p.Phe1400fs)
|
|
|
NM_000138.5(FBN1):c.4197C>T (p.Gly1399=)
|
|
|
NM_000138.5(FBN1):c.4197del (p.Phe1400fs)
|
rs869025421
|
|
NM_000138.5(FBN1):c.4204T>G (p.Cys1402Gly)
|
rs2141279646
|
|
NM_000138.5(FBN1):c.4205G>A (p.Cys1402Tyr)
|
rs1555397646
|
|
NM_000138.5(FBN1):c.4208C>T (p.Thr1403Ile)
|
|
|
NM_000138.5(FBN1):c.4210+11G>A
|
rs148057138
|
|
NM_000138.5(FBN1):c.4210+14G>T
|
|
|
NM_000138.5(FBN1):c.4210+15G>A
|
|
|
NM_000138.5(FBN1):c.4210+15G>C
|
|
|
NM_000138.5(FBN1):c.4210+16A>C
|
|
|
NM_000138.5(FBN1):c.4210+16A>G
|
|
|
NM_000138.5(FBN1):c.4210+1G>A
|
rs730880106
|
|
NM_000138.5(FBN1):c.4210+3A>G
|
rs1457293645
|
|
NM_000138.5(FBN1):c.4210+3A>T
|
|
|
NM_000138.5(FBN1):c.4210G>A (p.Asp1404Asn)
|
rs794728220
|
|
NM_000138.5(FBN1):c.4210G>C (p.Asp1404His)
|
rs794728220
|
|
NM_000138.5(FBN1):c.4211-12_4211-9del
|
rs1597552613
|
|
NM_000138.5(FBN1):c.4211-2A>G
|
|
|
NM_000138.5(FBN1):c.4211-5T>C
|
|
|
NM_000138.5(FBN1):c.4211-8G>C
|
rs764384543
|
|
NM_000138.5(FBN1):c.4211A>G (p.Asp1404Gly)
|
|
|
NM_000138.5(FBN1):c.4217A>G (p.Asp1406Gly)
|
rs2043386794
|
|
NM_000138.5(FBN1):c.4219G>T (p.Glu1407Ter)
|
rs1597552583
|
|
NM_000138.5(FBN1):c.4222T>A (p.Cys1408Ser)
|
|
|
NM_000138.5(FBN1):c.4222T>C (p.Cys1408Arg)
|
rs397515802
|
|
NM_000138.5(FBN1):c.4226_4227del (p.Cys1408_Ser1409insTer)
|
rs1566905976
|
|
NM_000138.5(FBN1):c.4230G>A (p.Glu1410=)
|
|
|
NM_000138.5(FBN1):c.4243T>C (p.Cys1415Arg)
|
rs1555397557
|
|
NM_000138.5(FBN1):c.4244G>A (p.Cys1415Tyr)
|
rs1555397556
|
|
NM_000138.5(FBN1):c.4245T>C (p.Cys1415=)
|
rs1555397553
|
|
NM_000138.5(FBN1):c.424G>A (p.Gly142Arg)
|
|
|
NM_000138.5(FBN1):c.4251_4259del (p.Gly1418_Cys1420del)
|
rs397515803
|
|
NM_000138.5(FBN1):c.4252_4253insCATT (p.Gly1418fs)
|
|
|
NM_000138.5(FBN1):c.4253_4259del (p.Gly1418fs)
|
rs398122934
|
|
NM_000138.5(FBN1):c.4254C>G (p.Gly1418=)
|
|
|
NM_000138.5(FBN1):c.4255C>T (p.Gln1419Ter)
|
|
|
NM_000138.5(FBN1):c.4258T>C (p.Cys1420Arg)
|
rs2043386188
|
|
NM_000138.5(FBN1):c.4259G>A (p.Cys1420Tyr)
|
rs397515804
|
|
NM_000138.5(FBN1):c.4259G>C (p.Cys1420Ser)
|
|
|
NM_000138.5(FBN1):c.4259G>T (p.Cys1420Phe)
|
rs397515804
|
|
NM_000138.5(FBN1):c.425G>A (p.Gly142Glu)
|
rs1555405036
|
|
NM_000138.5(FBN1):c.4262T>C (p.Leu1421Pro)
|
rs2043386032
|
|
NM_000138.5(FBN1):c.4263C>G (p.Leu1421=)
|
|
|
NM_000138.5(FBN1):c.4265A>G (p.Asn1422Ser)
|
rs1057517910
|
|
NM_000138.5(FBN1):c.4265del (p.Asn1422fs)
|
|
|
NM_000138.5(FBN1):c.4269A>T (p.Ala1423=)
|
rs775256810
|
|
NM_000138.5(FBN1):c.4270C>T (p.Pro1424Ser)
|
rs201273753
|
|
NM_000138.5(FBN1):c.4276G>A (p.Gly1426Arg)
|
rs1597552464
|
|
NM_000138.5(FBN1):c.4277G>C (p.Gly1426Ala)
|
rs531751210
|
|
NM_000138.5(FBN1):c.4280A>G (p.Tyr1427Cys)
|
rs1555397548
|
|
NM_000138.5(FBN1):c.4280dup (p.Tyr1427Ter)
|
|
|
NM_000138.5(FBN1):c.4281C>A (p.Tyr1427Ter)
|
rs2141277951
|
|
NM_000138.5(FBN1):c.4281C>T (p.Tyr1427=)
|
|
|
NM_000138.5(FBN1):c.4282C>G (p.Arg1428Gly)
|
rs1258352189
|
|
NM_000138.5(FBN1):c.4285T>A (p.Cys1429Ser)
|
rs1555397546
|
|
NM_000138.5(FBN1):c.4286G>A (p.Cys1429Tyr)
|
rs1555397545
|
|
NM_000138.5(FBN1):c.4287T>G (p.Cys1429Trp)
|
rs1555397543
|
|
NM_000138.5(FBN1):c.4287_4288del (p.Cys1429_Glu1430delinsTer)
|
rs1555397542
|
|
NM_000138.5(FBN1):c.4292G>A (p.Cys1431Tyr)
|
rs1555397540
|
|
NM_000138.5(FBN1):c.4293C>A (p.Cys1431Ter)
|
rs112375043
|
|
NM_000138.5(FBN1):c.4293C>G (p.Cys1431Trp)
|
rs112375043
|
|
NM_000138.5(FBN1):c.4293C>T (p.Cys1431=)
|
rs112375043
|
|
NM_000138.5(FBN1):c.4297A>T (p.Met1433Leu)
|
|
|
NM_000138.5(FBN1):c.4300G>T (p.Gly1434Cys)
|
|
|
NM_000138.5(FBN1):c.4301_4302insAG (p.Phe1435fs)
|
rs1555397536
|
|
NM_000138.5(FBN1):c.4301del (p.Gly1434fs)
|
rs1555397537
|
|
NM_000138.5(FBN1):c.4302del (p.Phe1435fs)
|
rs2043385268
|
|
NM_000138.5(FBN1):c.4305C>T (p.Phe1435=)
|
rs1243628683
|
|
NM_000138.5(FBN1):c.4306G>T (p.Val1436Leu)
|
rs377338217
|
|
NM_000138.5(FBN1):c.430C>T (p.His144Tyr)
|
|
|
NM_000138.5(FBN1):c.4311del (p.Ser1438fs)
|
rs2141277871
|
|
NM_000138.5(FBN1):c.4319del (p.Asp1440fs)
|
rs1597552388
|
|
NM_000138.5(FBN1):c.431A>G (p.His144Arg)
|
|
|
NM_000138.5(FBN1):c.4321G>T (p.Gly1441Trp)
|
|
|
NM_000138.5(FBN1):c.4327G>A (p.Ala1443Thr)
|
|
|
NM_000138.5(FBN1):c.432C>A (p.His144Gln)
|
|
|
NM_000138.5(FBN1):c.432C>G (p.His144Gln)
|
|
|
NM_000138.5(FBN1):c.4330T>A (p.Cys1444Ser)
|
rs869025406
|
|
NM_000138.5(FBN1):c.4331G>A (p.Cys1444Tyr)
|
rs886038940
|
|
NM_000138.5(FBN1):c.4331G>C (p.Cys1444Ser)
|
rs886038940
|
|
NM_000138.5(FBN1):c.4332T>G (p.Cys1444Trp)
|
rs2141277826
|
|
NM_000138.5(FBN1):c.4336+19A>G
|
rs2043384546
|
|
NM_000138.5(FBN1):c.4336+1G>A
|
rs2141277821
|
|
NM_000138.5(FBN1):c.4336+1G>T
|
rs2141277821
|
|
NM_000138.5(FBN1):c.4336+4_4336+11dup
|
|
|
NM_000138.5(FBN1):c.4336+9T>A
|
|
|
NM_000138.5(FBN1):c.4336G>A (p.Asp1446Asn)
|
rs794728221
|
|
NM_000138.5(FBN1):c.4337-12C>T
|
rs573468967
|
|
NM_000138.5(FBN1):c.4337-1G>A
|
rs1555397424
|
|
NM_000138.5(FBN1):c.4337-1G>T
|
rs1555397424
|
|
NM_000138.5(FBN1):c.4337-2A>G
|
rs794728216
|
|
NM_000138.5(FBN1):c.4337-2A>T
|
rs794728216
|
|
NM_000138.5(FBN1):c.4337-4dup
|
rs1566905439
|
|
NM_000138.5(FBN1):c.4337-55dup
|
rs138034853
|
|
NM_000138.5(FBN1):c.4337-5C>A
|
rs370959127
|
|
NM_000138.5(FBN1):c.4337-8C>A
|
rs1458842000
|
|
NM_000138.5(FBN1):c.4337A>G (p.Asp1446Gly)
|
rs397515806
|
|
NM_000138.5(FBN1):c.4337A>T (p.Asp1446Val)
|
rs397515806
|
|
NM_000138.5(FBN1):c.433T>C (p.Cys145Arg)
|
rs1555405031
|
|
NM_000138.5(FBN1):c.433T>G (p.Cys145Gly)
|
rs1555405031
|
|
NM_000138.5(FBN1):c.4341_4344del (p.Ile1447fs)
|
|
|
NM_000138.5(FBN1):c.4345_4346insCACT (p.Glu1449fs)
|
rs2043366702
|
|
NM_000138.5(FBN1):c.4346_4349dup (p.Cys1450Ter)
|
rs1555397420
|
|
NM_000138.5(FBN1):c.4347G>T (p.Glu1449Asp)
|
rs1555397423
|
|
NM_000138.5(FBN1):c.4348T>A (p.Cys1450Ser)
|
rs1555397421
|
|
NM_000138.5(FBN1):c.4348T>C (p.Cys1450Arg)
|
rs1555397421
|
|
NM_000138.5(FBN1):c.4349G>A (p.Cys1450Tyr)
|
rs1555397419
|
|
NM_000138.5(FBN1):c.4349G>T (p.Cys1450Phe)
|
rs1555397419
|
|
NM_000138.5(FBN1):c.434G>A (p.Cys145Tyr)
|
rs878853682
|
|
NM_000138.5(FBN1):c.4358C>A (p.Pro1453Gln)
|
|
|
NM_000138.5(FBN1):c.4362C>T (p.Asn1454=)
|
rs1060504145
|
|
NM_000138.5(FBN1):c.4364T>G (p.Ile1455Ser)
|
rs397515807
|
|
NM_000138.5(FBN1):c.4367G>A (p.Cys1456Tyr)
|
rs397515805
|
|
NM_000138.5(FBN1):c.4367G>C (p.Cys1456Ser)
|
rs397515805
|
|
NM_000138.5(FBN1):c.4367G>T (p.Cys1456Phe)
|
rs397515805
|
|
NM_000138.5(FBN1):c.4369_4370del (p.Val1457fs)
|
rs1060501043
|
|
NM_000138.5(FBN1):c.4381T>C (p.Cys1461Arg)
|
rs2141275778
|
|
NM_000138.5(FBN1):c.4382G>A (p.Cys1461Tyr)
|
rs1057522902
|
|
NM_000138.5(FBN1):c.4382G>C (p.Cys1461Ser)
|
rs1057522902
|
|
NM_000138.5(FBN1):c.4382G>T (p.Cys1461Phe)
|
rs1057522902
|
|
NM_000138.5(FBN1):c.4388A>G (p.Asn1463Ser)
|
rs1555397413
|
|
NM_000138.5(FBN1):c.4389C>A (p.Asn1463Lys)
|
rs1555397412
|
|
NM_000138.5(FBN1):c.4395T>C (p.Pro1465=)
|
rs1555397410
|
|
NM_000138.5(FBN1):c.439C>T (p.Gln147Ter)
|
rs886039036
|
|
NM_000138.5(FBN1):c.43G>A (p.Val15Met)
|
rs1890262474
|
|
NM_000138.5(FBN1):c.4401G>A (p.Leu1467=)
|
|
|
NM_000138.5(FBN1):c.4401G>C (p.Leu1467=)
|
rs747377334
|
|
NM_000138.5(FBN1):c.4404C>G (p.Phe1468Leu)
|
rs780479561
|
|
NM_000138.5(FBN1):c.4404C>T (p.Phe1468=)
|
rs780479561
|
|
NM_000138.5(FBN1):c.4405del (p.Arg1469fs)
|
rs794728308
|
|
NM_000138.5(FBN1):c.4406G>C (p.Arg1469Pro)
|
rs397515808
|
|
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.4409G>A (p.Cys1470Tyr)
|
rs2043365537
|
|
NM_000138.5(FBN1):c.440A>G (p.Gln147Arg)
|
rs747815650
|
|
NM_000138.5(FBN1):c.4410_4411del (p.Cys1470_Glu1471delinsTer)
|
rs2141275703
|
|
NM_000138.5(FBN1):c.4410dup (p.Glu1471Ter)
|
rs2043365502
|
|
NM_000138.5(FBN1):c.4412_4415del (p.Glu1471fs)
|
rs886038846
|
|
NM_000138.5(FBN1):c.4414T>A (p.Cys1472Ser)
|
rs1555397403
|
|
NM_000138.5(FBN1):c.4414T>C (p.Cys1472Arg)
|
rs1555397403
|
|
NM_000138.5(FBN1):c.441del (p.Gln147fs)
|
rs1555405028
|
|
NM_000138.5(FBN1):c.442+4A>C
|
rs768207411
|
|
NM_000138.5(FBN1):c.442+8C>T
|
rs771771077
|
|
NM_000138.5(FBN1):c.4429G>A (p.Glu1477Lys)
|
rs869025407
|
|
NM_000138.5(FBN1):c.443-12C>A
|
rs1027154934
|
|
NM_000138.5(FBN1):c.443-13C>T
|
|
|
NM_000138.5(FBN1):c.443-15C>A
|
rs2044516377
|
|
NM_000138.5(FBN1):c.443-17C>G
|
|
|
NM_000138.5(FBN1):c.443-1G>A
|
rs1555404821
|
|
NM_000138.5(FBN1):c.443-20G>A
|
|
|
NM_000138.5(FBN1):c.443-8T>C
|
rs1319616777
|
|
NM_000138.5(FBN1):c.443-9A>T
|
|
|
NM_000138.5(FBN1):c.4437C>G (p.Asp1479Glu)
|
rs370161725
|
|
NM_000138.5(FBN1):c.443del (p.Pro148fs)
|
rs1555404820
|
|
NM_000138.5(FBN1):c.4453T>C (p.Cys1485Arg)
|
rs730880101
|
|
NM_000138.5(FBN1):c.4453T>G (p.Cys1485Gly)
|
rs730880101
|
|
NM_000138.5(FBN1):c.4454G>A (p.Cys1485Tyr)
|
rs111978932
|
|
NM_000138.5(FBN1):c.4454G>C (p.Cys1485Ser)
|
rs111978932
|
|
NM_000138.5(FBN1):c.4458A>C (p.Thr1486=)
|
|
|
NM_000138.5(FBN1):c.4459+15G>T
|
|
|
NM_000138.5(FBN1):c.4459+16G>A
|
|
|
NM_000138.5(FBN1):c.4459+1G>A
|
|
|
NM_000138.5(FBN1):c.4459+2T>G
|
rs1555397393
|
|
NM_000138.5(FBN1):c.4459+3A>C
|
|
|
NM_000138.5(FBN1):c.4459+3A>T
|
rs397515809
|
|
NM_000138.5(FBN1):c.4459G>A (p.Asp1487Asn)
|
rs113693945
|
|
NM_000138.5(FBN1):c.4460-1G>C
|
rs113082854
|
|
NM_000138.5(FBN1):c.4460-1G>T
|
|
|
NM_000138.5(FBN1):c.4460-9C>A
|
rs372753740
|
|
NM_000138.5(FBN1):c.4460A>C (p.Asp1487Ala)
|
rs1555397216
|
|
NM_000138.5(FBN1):c.4460A>G (p.Asp1487Gly)
|
rs1555397216
|
|
NM_000138.5(FBN1):c.4462G>T (p.Val1488Leu)
|
rs1566904712
|
|
NM_000138.5(FBN1):c.4466A>G (p.Asn1489Ser)
|
rs1057518501
|
|
NM_000138.5(FBN1):c.4467T>A (p.Asn1489Lys)
|
rs193922205
|
|
NM_000138.5(FBN1):c.4468G>A (p.Glu1490Lys)
|
rs1060501076
|
|
NM_000138.5(FBN1):c.4468G>T (p.Glu1490Ter)
|
rs1060501076
|
|
NM_000138.5(FBN1):c.4469A>G (p.Glu1490Gly)
|
rs2043341806
|
|
NM_000138.5(FBN1):c.4471T>C (p.Cys1491Arg)
|
rs2141273081
|
|
NM_000138.5(FBN1):c.4472G>A (p.Cys1491Tyr)
|
|
|
NM_000138.5(FBN1):c.4472G>T (p.Cys1491Phe)
|
rs2141273076
|
|
NM_000138.5(FBN1):c.4473C>G (p.Cys1491Trp)
|
rs2043341787
|
|
NM_000138.5(FBN1):c.4474del (p.Leu1492fs)
|
rs1555397214
|
|
NM_000138.5(FBN1):c.4487C>T (p.Thr1496Met)
|
rs776199613
|
|
NM_000138.5(FBN1):c.4489T>A (p.Cys1497Ser)
|
rs1555397213
|
|
NM_000138.5(FBN1):c.448T>C (p.Cys150Arg)
|
rs1555404819
|
|
NM_000138.5(FBN1):c.4490G>A (p.Cys1497Tyr)
|
rs1555397212
|
|
NM_000138.5(FBN1):c.4490G>C (p.Cys1497Ser)
|
rs1555397212
|
|
NM_000138.5(FBN1):c.4491C>A (p.Cys1497Ter)
|
rs2043341481
|
|
NM_000138.5(FBN1):c.4491C>G (p.Cys1497Trp)
|
rs2043341481
|
|
NM_000138.5(FBN1):c.449G>A (p.Cys150Tyr)
|
rs2140711857
|
|
NM_000138.5(FBN1):c.449G>T (p.Cys150Phe)
|
|
|
NM_000138.5(FBN1):c.44T>G (p.Val15Gly)
|
rs2140787791
|
|
NM_000138.5(FBN1):c.4501_4511del (p.Asn1501fs)
|
rs1555397210
|
|
NM_000138.5(FBN1):c.4503C>T (p.Asn1501=)
|
rs2043341420
|
|
NM_000138.5(FBN1):c.4504T>C (p.Cys1502Arg)
|
rs2141273019
|
|
NM_000138.5(FBN1):c.4505G>A (p.Cys1502Tyr)
|
rs397515810
|
|
NM_000138.5(FBN1):c.4506T>A (p.Cys1502Ter)
|
|
|
NM_000138.5(FBN1):c.4510A>T (p.Asn1504Tyr)
|
rs1555397211
|
|
NM_000138.5(FBN1):c.4511A>G (p.Asn1504Ser)
|
rs1555397209
|
|
NM_000138.5(FBN1):c.4511A>T (p.Asn1504Ile)
|
rs1555397209
|
|
NM_000138.5(FBN1):c.4512C>T (p.Asn1504=)
|
|
|
NM_000138.5(FBN1):c.4516C>G (p.Pro1506Ala)
|
rs794728224
|
|
NM_000138.5(FBN1):c.4517del (p.Pro1506fs)
|
rs2141272985
|
|
NM_000138.5(FBN1):c.451G>T (p.Glu151Ter)
|
rs1180715983
|
|
NM_000138.5(FBN1):c.4520G>A (p.Gly1507Asp)
|
rs794728225
|
|
NM_000138.5(FBN1):c.4521C>T (p.Gly1507=)
|
rs1425634624
|
|
NM_000138.5(FBN1):c.4523G>T (p.Ser1508Ile)
|
rs1555397207
|
|
NM_000138.5(FBN1):c.4525T>G (p.Tyr1509Asp)
|
|
|
NM_000138.5(FBN1):c.4526A>G (p.Tyr1509Cys)
|
rs730880102
|
|
NM_000138.5(FBN1):c.4531T>C (p.Cys1511Arg)
|
rs397515811
|
|
NM_000138.5(FBN1):c.4531T>G (p.Cys1511Gly)
|
rs397515811
|
|
NM_000138.5(FBN1):c.4532G>A (p.Cys1511Tyr)
|
rs1060501074
|
|
NM_000138.5(FBN1):c.4532del (p.Cys1511fs)
|
|
|
NM_000138.5(FBN1):c.4537T>G (p.Cys1513Gly)
|
|
|
NM_000138.5(FBN1):c.4538G>A (p.Cys1513Tyr)
|
rs1555397204
|
|
NM_000138.5(FBN1):c.4538G>T (p.Cys1513Phe)
|
rs1555397204
|
|
NM_000138.5(FBN1):c.4539C>G (p.Cys1513Trp)
|
rs1555397203
|
|
NM_000138.5(FBN1):c.4543C>T (p.Pro1515Ser)
|
rs1219583611
|
|
NM_000138.5(FBN1):c.4544_4546delinsAGAT (p.Pro1515fs)
|
|
|
NM_000138.5(FBN1):c.4549T>A (p.Phe1517Ile)
|
|
|
NM_000138.5(FBN1):c.454A>T (p.Ser152Cys)
|
rs193922206
|
|
NM_000138.5(FBN1):c.4555del (p.Glu1518_Leu1519insTer)
|
rs1555397199
|
|
NM_000138.5(FBN1):c.455G>A (p.Ser152Asn)
|
rs1288527435
|
|
NM_000138.5(FBN1):c.4562C>T (p.Pro1521Leu)
|
rs2141272892
|
|
NM_000138.5(FBN1):c.4562dup (p.Thr1522fs)
|
|
|
NM_000138.5(FBN1):c.4567C>T (p.Arg1523Ter)
|
rs397515812
|
|
NM_000138.5(FBN1):c.4569A>T (p.Arg1523=)
|
rs2141272876
|
|
NM_000138.5(FBN1):c.4570G>A (p.Val1524Ile)
|
rs2043340600
|
|
NM_000138.5(FBN1):c.4574G>A (p.Gly1525Asp)
|
rs1597549030
|
|
NM_000138.5(FBN1):c.4576T>C (p.Cys1526Arg)
|
|
|
NM_000138.5(FBN1):c.4577G>C (p.Cys1526Ser)
|
|
|
NM_000138.5(FBN1):c.4577G>T (p.Cys1526Phe)
|
|
|
NM_000138.5(FBN1):c.4579_4580del (p.Cys1526_Val1527insTer)
|
rs1555397197
|
|
NM_000138.5(FBN1):c.457G>A (p.Gly153Ser)
|
rs995711019
|
|
NM_000138.5(FBN1):c.4581_4582del (p.Asp1528fs)
|
rs2141272855
|
|
NM_000138.5(FBN1):c.4582+11A>G
|
|
|
NM_000138.5(FBN1):c.4582+19_4582+21del
|
|
|
NM_000138.5(FBN1):c.4582+1G>A
|
rs1555397195
|
|
NM_000138.5(FBN1):c.4582+1G>T
|
rs1555397195
|
|
NM_000138.5(FBN1):c.4582+2T>G
|
rs1555397193
|
|
NM_000138.5(FBN1):c.4582+2dup
|
rs1555397194
|
|
NM_000138.5(FBN1):c.4582+3A>T
|
rs777845323
|
|
NM_000138.5(FBN1):c.4582+4del
|
rs2141272841
|
|
NM_000138.5(FBN1):c.4582+5G>C
|
rs140633
|
|
NM_000138.5(FBN1):c.4582+7C>T
|
rs768496209
|
|
NM_000138.5(FBN1):c.4582G>A (p.Asp1528Asn)
|
|
|
NM_000138.5(FBN1):c.4583-10T>A
|
rs1379865323
|
|
NM_000138.5(FBN1):c.4583-12T>C
|
rs1326100045
|
|
NM_000138.5(FBN1):c.4583-12T>G
|
|
|
NM_000138.5(FBN1):c.4583-18T>C
|
|
|
NM_000138.5(FBN1):c.4583-1G>A
|
rs1555397176
|
|
NM_000138.5(FBN1):c.4583-2A>G
|
|
|
NM_000138.5(FBN1):c.4583-5A>G
|
rs778966916
|
|
NM_000138.5(FBN1):c.4583-6A>T
|
|
|
NM_000138.5(FBN1):c.4583-8G>C
|
rs910464222
|
|
NM_000138.5(FBN1):c.4583-9G>A
|
rs2043338449
|
|
NM_000138.5(FBN1):c.4583-9G>C
|
rs2043338449
|
|
NM_000138.5(FBN1):c.4585A>G (p.Thr1529Ala)
|
|
|
NM_000138.5(FBN1):c.4585dup (p.Thr1529fs)
|
rs2141272535
|
|
NM_000138.5(FBN1):c.4587C>T (p.Thr1529=)
|
rs1366052911
|
|
NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys)
|
rs111401431
|
|
NM_000138.5(FBN1):c.4588del (p.Arg1530fs)
|
rs2043338241
|
|
NM_000138.5(FBN1):c.4589G>C (p.Arg1530Pro)
|
rs778710767
|
|
NM_000138.5(FBN1):c.4589G>T (p.Arg1530Leu)
|
|
|
NM_000138.5(FBN1):c.458G>C (p.Gly153Ala)
|
|
|
NM_000138.5(FBN1):c.458del (p.Gly153fs)
|
|
|
NM_000138.5(FBN1):c.4591del (p.Ser1531fs)
|
rs2141272501
|
|
NM_000138.5(FBN1):c.4593T>C (p.Ser1531=)
|
rs985992262
|
|
NM_000138.5(FBN1):c.459_460dup (p.Cys154fs)
|
rs2140711798
|
|
NM_000138.5(FBN1):c.4600T>C (p.Cys1534Arg)
|
rs2141272479
|
|
NM_000138.5(FBN1):c.4602C>G (p.Cys1534Trp)
|
rs1555397174
|
|
NM_000138.5(FBN1):c.4607T>G (p.Leu1536Trp)
|
rs2043337989
|
|
NM_000138.5(FBN1):c.4615C>T (p.Arg1539Ter)
|
rs111231312
|
|
NM_000138.5(FBN1):c.4619C>G (p.Pro1540Arg)
|
rs2043337860
|
|
NM_000138.5(FBN1):c.461G>A (p.Cys154Tyr)
|
|
|
NM_000138.5(FBN1):c.461G>C (p.Cys154Ser)
|
rs1057521103
|
|
NM_000138.5(FBN1):c.461G>T (p.Cys154Phe)
|
|
|
NM_000138.5(FBN1):c.4620T>G (p.Pro1540=)
|
|
|
NM_000138.5(FBN1):c.4621C>T (p.Arg1541Ter)
|
rs794728228
|
|
NM_000138.5(FBN1):c.4625_4626delinsATAATCTCCATTC (p.Gly1542fs)
|
rs2043337762
|
|
NM_000138.5(FBN1):c.4629del (p.Asp1543fs)
|
rs2043337738
|
|
NM_000138.5(FBN1):c.4635A>T (p.Gly1545=)
|
rs1555397167
|
|
NM_000138.5(FBN1):c.4639dup (p.Thr1547fs)
|
rs1597548734
|
|
NM_000138.5(FBN1):c.4649del (p.Ser1550fs)
|
rs1597548716
|
|
NM_000138.5(FBN1):c.4656A>G (p.Glu1552=)
|
rs768210642
|
|
NM_000138.5(FBN1):c.4657_4658del (p.Ile1553fs)
|
|
|
NM_000138.5(FBN1):c.465C>T (p.Leu155=)
|
|
|
NM_000138.5(FBN1):c.465del (p.Asn156fs)
|
rs2044515899
|
|
NM_000138.5(FBN1):c.4660G>T (p.Gly1554Ter)
|
rs2043337443
|
|
NM_000138.5(FBN1):c.4662A>C (p.Gly1554=)
|
|
|
NM_000138.5(FBN1):c.4663G>C (p.Val1555Leu)
|
rs760055928
|
|
NM_000138.5(FBN1):c.4664T>C (p.Val1555Ala)
|
|
|
NM_000138.5(FBN1):c.4665_4668del (p.Gly1556fs)
|
rs1555397160
|
|
NM_000138.5(FBN1):c.4671T>C (p.Val1557=)
|
rs978094803
|
|
NM_000138.5(FBN1):c.4678G>A (p.Ala1560Thr)
|
rs142858432
|
|
NM_000138.5(FBN1):c.4679C>T (p.Ala1560Val)
|
|
|
NM_000138.5(FBN1):c.4684T>A (p.Cys1562Ser)
|
rs193922207
|
|
NM_000138.5(FBN1):c.4685G>T (p.Cys1562Phe)
|
rs2141272349
|
|
NM_000138.5(FBN1):c.4687T>A (p.Cys1563Ser)
|
rs1597548672
|
|
NM_000138.5(FBN1):c.4688G>A (p.Cys1563Tyr)
|
rs1131691871
|
|
NM_000138.5(FBN1):c.4689C>G (p.Cys1563Trp)
|
rs2043337073
|
|
NM_000138.5(FBN1):c.4690_4691insTGTT (p.Cys1564fs)
|
rs2141272337
|
|
NM_000138.5(FBN1):c.4691G>A (p.Cys1564Tyr)
|
rs267606800
|
|
NM_000138.5(FBN1):c.4694C>T (p.Ser1565Phe)
|
rs1555397156
|
|
NM_000138.5(FBN1):c.4700del (p.Gly1567fs)
|
rs1566904526
|
|
NM_000138.5(FBN1):c.4704A>G (p.Lys1568=)
|
rs193922208
|
|
NM_000138.5(FBN1):c.4704_4707dup (p.Trp1570fs)
|
|
|
NM_000138.5(FBN1):c.4710G>A (p.Trp1570Ter)
|
rs267606799
|
|
NM_000138.5(FBN1):c.4714A>G (p.Thr1572Ala)
|
rs1597548645
|
|
NM_000138.5(FBN1):c.4723G>T (p.Glu1575Ter)
|
rs2141272276
|
|
NM_000138.5(FBN1):c.4729T>C (p.Cys1577Arg)
|
|
|
NM_000138.5(FBN1):c.4731T>A (p.Cys1577Ter)
|
rs2141272261
|
|
NM_000138.5(FBN1):c.4731T>C (p.Cys1577=)
|
|
|
NM_000138.5(FBN1):c.473del (p.Gly158fs)
|
rs2140711733
|
|
NM_000138.5(FBN1):c.4741_4747+7del
|
|
|
NM_000138.5(FBN1):c.4742A>G (p.Asn1581Ser)
|
|
|
NM_000138.5(FBN1):c.4744A>G (p.Thr1582Ala)
|
|
|
NM_000138.5(FBN1):c.4744A>T (p.Thr1582Ser)
|
|
|
NM_000138.5(FBN1):c.4745C>T (p.Thr1582Ile)
|
|
|
NM_000138.5(FBN1):c.4745del (p.Thr1582fs)
|
rs2043336561
|
|
NM_000138.5(FBN1):c.4747+15T>G
|
|
|
NM_000138.5(FBN1):c.4747+19A>G
|
rs2141272191
|
|
NM_000138.5(FBN1):c.4747+1G>A
|
rs2141272220
|
|
NM_000138.5(FBN1):c.4747+3A>T
|
rs1555397145
|
|
NM_000138.5(FBN1):c.4747+5G>A
|
rs193922209
|
|
NM_000138.5(FBN1):c.4747+5G>C
|
rs193922209
|
|
NM_000138.5(FBN1):c.4747+5G>T
|
rs193922209
|
|
NM_000138.5(FBN1):c.4747+8G>A
|
rs368739764
|
|
NM_000138.5(FBN1):c.4747+8G>C
|
|
|
NM_000138.5(FBN1):c.4748-10G>A
|
|
|
NM_000138.5(FBN1):c.4748-10G>C
|
|
|
NM_000138.5(FBN1):c.4748-11T>C
|
rs549918653
|
|
NM_000138.5(FBN1):c.4748-19T>A
|
|
|
NM_000138.5(FBN1):c.4748-1G>A
|
rs2141270027
|
|
NM_000138.5(FBN1):c.4748-2A>G
|
rs2141270032
|
|
NM_000138.5(FBN1):c.4748-2dup
|
rs2043316552
|
|
NM_000138.5(FBN1):c.4748-3T>C
|
rs770762644
|
|
NM_000138.5(FBN1):c.4748-3T>G
|
rs770762644
|
|
NM_000138.5(FBN1):c.4748-4A>G
|
|
|
NM_000138.5(FBN1):c.4748C>A (p.Ser1583Tyr)
|
|
|
NM_000138.5(FBN1):c.4749C>T (p.Ser1583=)
|
rs1275608178
|
|
NM_000138.5(FBN1):c.474_476del (p.Arg159del)
|
rs2140711718
|
|
NM_000138.5(FBN1):c.4764T>C (p.Leu1588=)
|
rs2043316351
|
|
NM_000138.5(FBN1):c.4766G>T (p.Cys1589Phe)
|
rs1555397024
|
|
NM_000138.5(FBN1):c.4767dup (p.Pro1590fs)
|
|
|
NM_000138.5(FBN1):c.4770_4771del (p.Gly1591fs)
|
rs1555397022
|
|
NM_000138.5(FBN1):c.4775G>A (p.Gly1592Glu)
|
rs1555397019
|
|
NM_000138.5(FBN1):c.4777del (p.Glu1593fs)
|
rs2141269976
|
|
NM_000138.5(FBN1):c.4778A>G (p.Glu1593Gly)
|
|
|
NM_000138.5(FBN1):c.477G>A (p.Arg159=)
|
rs1456579664
|
|
NM_000138.5(FBN1):c.4781G>A (p.Gly1594Asp)
|
rs267606798
|
|
NM_000138.5(FBN1):c.4781del (p.Gly1594fs)
|
rs1566904011
|
|
NM_000138.5(FBN1):c.4786C>T (p.Arg1596Ter)
|
rs113871094
|
|
NM_000138.5(FBN1):c.4787G>A (p.Arg1596Gln)
|
rs769588424
|
|
NM_000138.5(FBN1):c.4787G>C (p.Arg1596Pro)
|
rs769588424
|
|
NM_000138.5(FBN1):c.478T>C (p.Cys160Arg)
|
rs1057518973
|
|
NM_000138.5(FBN1):c.478T>G (p.Cys160Gly)
|
|
|
NM_000138.5(FBN1):c.4791A>C (p.Pro1597=)
|
rs2043316050
|
|
NM_000138.5(FBN1):c.4795C>A (p.Pro1599Thr)
|
rs1555397018
|
|
NM_000138.5(FBN1):c.4799T>G (p.Ile1600Ser)
|
|
|
NM_000138.5(FBN1):c.479G>A (p.Cys160Tyr)
|
rs1555404810
|
|
NM_000138.5(FBN1):c.479G>C (p.Cys160Ser)
|
|
|
NM_000138.5(FBN1):c.47T>A (p.Leu16His)
|
rs1555407424
|
|
NM_000138.5(FBN1):c.4802C>G (p.Thr1601Ser)
|
|
|
NM_000138.5(FBN1):c.4811T>A (p.Leu1604Ter)
|
|
|
NM_000138.5(FBN1):c.4813del (p.Glu1605fs)
|
rs1555397016
|
|
NM_000138.5(FBN1):c.4815A>G (p.Glu1605=)
|
rs869025408
|
|
NM_000138.5(FBN1):c.4815del (p.Asp1606fs)
|
rs2141269914
|
|
NM_000138.5(FBN1):c.4816+1G>C
|
rs1555397014
|
|
NM_000138.5(FBN1):c.4816+1G>T
|
rs1555397014
|
|
NM_000138.5(FBN1):c.4816+2T>C
|
rs1597547226
|
|
NM_000138.5(FBN1):c.4816+4A>G
|
rs2141269898
|
|
NM_000138.5(FBN1):c.4816+8_4816+9insTACCTTCCTT
|
rs878853684
|
|
NM_000138.5(FBN1):c.4816G>A (p.Asp1606Asn)
|
rs2043315819
|
|
NM_000138.5(FBN1):c.4817-14T>G
|
|
|
NM_000138.5(FBN1):c.4817-16G>T
|
|
|
NM_000138.5(FBN1):c.4817-1_4819del
|
rs2141269777
|
|
NM_000138.5(FBN1):c.4817-22_4817-14delinsAGCC
|
|
|
NM_000138.5(FBN1):c.4817-2A>G
|
rs1555397008
|
|
NM_000138.5(FBN1):c.4817-3_4818dup
|
rs2141269780
|
|
NM_000138.5(FBN1):c.4817-7T>C
|
|
|
NM_000138.5(FBN1):c.4817-8T>C
|
rs2043315040
|
|
NM_000138.5(FBN1):c.4825G>T (p.Glu1609Ter)
|
rs2141269766
|
|
NM_000138.5(FBN1):c.4827G>A (p.Glu1609=)
|
|
|
NM_000138.5(FBN1):c.4829_4838dup (p.Leu1616fs)
|
rs1597547075
|
|
NM_000138.5(FBN1):c.4847T>A (p.Leu1616Gln)
|
|
|
NM_000138.5(FBN1):c.4848G>C (p.Leu1616=)
|
|
|
NM_000138.5(FBN1):c.4852C>T (p.Gln1618Ter)
|
rs2141269730
|
|
NM_000138.5(FBN1):c.4857_4865del (p.Gly1620_Cys1622del)
|
rs2141269721
|
|
NM_000138.5(FBN1):c.4863A>G (p.Lys1621=)
|
rs2043314687
|
|
NM_000138.5(FBN1):c.4864T>C (p.Cys1622Arg)
|
|
|
NM_000138.5(FBN1):c.486C>G (p.Ala162=)
|
|
|
NM_000138.5(FBN1):c.486C>T (p.Ala162=)
|
rs2044515505
|
|
NM_000138.5(FBN1):c.4875del (p.Phe1626fs)
|
|
|
NM_000138.5(FBN1):c.4878del (p.Phe1626fs)
|
rs2043314537
|
|
NM_000138.5(FBN1):c.4881G>A (p.Gly1627=)
|
|
|
NM_000138.5(FBN1):c.4881del (p.Ser1628fs)
|
rs2043314519
|
|
NM_000138.5(FBN1):c.4886T>A (p.Phe1629Tyr)
|
|
|
NM_000138.5(FBN1):c.4888C>T (p.Gln1630Ter)
|
rs794728231
|
|
NM_000138.5(FBN1):c.488del (p.Pro163fs)
|
rs1555404806
|
|
NM_000138.5(FBN1):c.4891T>A (p.Cys1631Ser)
|
rs1555396998
|
|
NM_000138.5(FBN1):c.4893C>A (p.Cys1631Ter)
|
rs1597547030
|
|
NM_000138.5(FBN1):c.4896C>G (p.Arg1632=)
|
rs2141269637
|
|
NM_000138.5(FBN1):c.4897T>C (p.Cys1633Arg)
|
|
|
NM_000138.5(FBN1):c.4898G>A (p.Cys1633Tyr)
|
rs1555396993
|
|
NM_000138.5(FBN1):c.4905C>T (p.Thr1635=)
|
rs113115949
|
|
NM_000138.5(FBN1):c.4907del (p.Gly1636fs)
|
|
|
NM_000138.5(FBN1):c.4911C>A (p.Tyr1637Ter)
|
rs1566903921
|
|
NM_000138.5(FBN1):c.4914C>A (p.Tyr1638Ter)
|
rs1555396991
|
|
NM_000138.5(FBN1):c.4914C>T (p.Tyr1638=)
|
|
|
NM_000138.5(FBN1):c.4915C>G (p.Leu1639Val)
|
|
|
NM_000138.5(FBN1):c.4915del (p.Tyr1638_Leu1639insTer)
|
rs2141269593
|
|
NM_000138.5(FBN1):c.4917G>T (p.Leu1639=)
|
|
|
NM_000138.5(FBN1):c.491del (p.Asn164fs)
|
rs2044515447
|
|
NM_000138.5(FBN1):c.4926_4927del (p.Arg1644fs)
|
rs1555396990
|
|
NM_000138.5(FBN1):c.4930C>T (p.Arg1644Ter)
|
rs140630
|
|
NM_000138.5(FBN1):c.4932A>G (p.Arg1644=)
|
rs2043313777
|
|
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.4937G>A (p.Cys1646Tyr)
|
rs397515814
|
|
NM_000138.5(FBN1):c.4937G>T (p.Cys1646Phe)
|
rs397515814
|
|
NM_000138.5(FBN1):c.493C>T (p.Arg165Ter)
|
rs113905529
|
|
NM_000138.5(FBN1):c.4940A>G (p.Asp1647Gly)
|
|
|
NM_000138.5(FBN1):c.4942+14G>A
|
|
|
NM_000138.5(FBN1):c.4942+15T>C
|
|
|
NM_000138.5(FBN1):c.4942+19A>C
|
|
|
NM_000138.5(FBN1):c.4942+19A>T
|
rs2141269507
|
|
NM_000138.5(FBN1):c.4942+1G>A
|
rs1566903907
|
|
NM_000138.5(FBN1):c.4942+20T>A
|
|
|
NM_000138.5(FBN1):c.4942+2T>C
|
rs2141269534
|
|
NM_000138.5(FBN1):c.4942+4A>G
|
rs397515815
|
|
NM_000138.5(FBN1):c.4942+8G>C
|
|
|
NM_000138.5(FBN1):c.4942+9T>G
|
|
|
NM_000138.5(FBN1):c.4942G>A (p.Asp1648Asn)
|
rs397515816
|
|
NM_000138.5(FBN1):c.4942G>C (p.Asp1648His)
|
rs397515816
|
|
NM_000138.5(FBN1):c.4943-13C>T
|
|
|
NM_000138.5(FBN1):c.4943-15C>A
|
|
|
NM_000138.5(FBN1):c.4943-1G>A
|
rs1555396863
|
|
NM_000138.5(FBN1):c.4943-1G>C
|
rs1555396863
|
|
NM_000138.5(FBN1):c.4943-25_4943-19del
|
|
|
NM_000138.5(FBN1):c.4943-4A>G
|
rs1555396865
|
|
NM_000138.5(FBN1):c.4943A>G (p.Asp1648Gly)
|
|
|
NM_000138.5(FBN1):c.494G>C (p.Arg165Pro)
|
rs1060501079
|
|
NM_000138.5(FBN1):c.4951G>A (p.Glu1651Lys)
|
rs886039152
|
|
NM_000138.5(FBN1):c.4955G>A (p.Cys1652Tyr)
|
rs397515817
|
|
NM_000138.5(FBN1):c.4955G>C (p.Cys1652Ser)
|
|
|
NM_000138.5(FBN1):c.4962T>C (p.Thr1654=)
|
|
|
NM_000138.5(FBN1):c.4962del (p.Pro1655fs)
|
|
|
NM_000138.5(FBN1):c.4965del (p.Gly1656fs)
|
rs1555396861
|
|
NM_000138.5(FBN1):c.496T>A (p.Cys166Ser)
|
rs363852
|
|
NM_000138.5(FBN1):c.496T>C (p.Cys166Arg)
|
rs363852
|
|
NM_000138.5(FBN1):c.4971_4972del (p.Ile1657fs)
|
rs2141267737
|
|
NM_000138.5(FBN1):c.4973G>A (p.Cys1658Tyr)
|
rs1555396859
|
|
NM_000138.5(FBN1):c.4974_4975del (p.Cys1658fs)
|
rs1555396858
|
|
NM_000138.5(FBN1):c.497G>A (p.Cys166Tyr)
|
rs397515818
|
|
NM_000138.5(FBN1):c.497G>C (p.Cys166Ser)
|
rs397515818
|
|
NM_000138.5(FBN1):c.4984A>T (p.Thr1662Ser)
|
rs1471557498
|
|
NM_000138.5(FBN1):c.4987T>C (p.Cys1663Arg)
|
rs137854459
|
|
NM_000138.5(FBN1):c.4988G>C (p.Cys1663Ser)
|
rs1555396853
|
|
NM_000138.5(FBN1):c.4988G>T (p.Cys1663Phe)
|
rs1555396853
|
|
NM_000138.5(FBN1):c.4989_4990insGGTCCAGGGTCCTGGAATCTGTGGTCCAGGT (p.Tyr1664fs)
|
|
|
NM_000138.5(FBN1):c.4994A>C (p.Asn1665Thr)
|
|
|
NM_000138.5(FBN1):c.4996_5007del (p.Thr1666_Asn1669del)
|
rs2141267678
|
|
NM_000138.5(FBN1):c.4998C>T (p.Thr1666=)
|
rs141925790
|
|
NM_000138.5(FBN1):c.5000T>C (p.Val1667Ala)
|
|
|
NM_000138.5(FBN1):c.5009_5020del (p.Tyr1670_Ile1673del)
|
|
|
NM_000138.5(FBN1):c.5011A>C (p.Thr1671Pro)
|
|
|
NM_000138.5(FBN1):c.5013C>T (p.Thr1671=)
|
|
|
NM_000138.5(FBN1):c.5013_5031del (p.Cys1672fs)
|
|
|
NM_000138.5(FBN1):c.5014T>G (p.Cys1672Gly)
|
rs112930491
|
|
NM_000138.5(FBN1):c.5015G>C (p.Cys1672Ser)
|
rs140627
|
|
NM_000138.5(FBN1):c.5015G>T (p.Cys1672Phe)
|
rs140627
|
|
NM_000138.5(FBN1):c.5016T>A (p.Cys1672Ter)
|
rs1555396848
|
|
NM_000138.5(FBN1):c.5016dup (p.Ile1673fs)
|
rs869025426
|
|
NM_000138.5(FBN1):c.5018T>C (p.Ile1673Thr)
|
rs2043300504
|
|
NM_000138.5(FBN1):c.5020T>C (p.Cys1674Arg)
|
rs1555396844
|
|
NM_000138.5(FBN1):c.5021G>A (p.Cys1674Tyr)
|
rs794728233
|
|
NM_000138.5(FBN1):c.5021_5022del (p.Cys1674fs)
|
|
|
NM_000138.5(FBN1):c.502T>A (p.Cys168Ser)
|
rs2044515247
|
|
NM_000138.5(FBN1):c.502T>C (p.Cys168Arg)
|
rs2044515247
|
|
NM_000138.5(FBN1):c.502T>G (p.Cys168Gly)
|
rs2044515247
|
|
NM_000138.5(FBN1):c.5030A>G (p.Asp1677Gly)
|
|
|
NM_000138.5(FBN1):c.5031C>T (p.Asp1677=)
|
rs1597545860
|
|
NM_000138.5(FBN1):c.5035A>C (p.Met1679Leu)
|
|
|
NM_000138.5(FBN1):c.5035A>G (p.Met1679Val)
|
rs759114752
|
|
NM_000138.5(FBN1):c.5038C>T (p.Gln1680Ter)
|
rs878853685
|
|
NM_000138.5(FBN1):c.503G>A (p.Cys168Tyr)
|
rs1555404803
|
|
NM_000138.5(FBN1):c.503G>T (p.Cys168Phe)
|
rs1555404803
|
|
NM_000138.5(FBN1):c.5041G>A (p.Val1681Met)
|
|
|
NM_000138.5(FBN1):c.5042T>C (p.Val1681Ala)
|
|
|
NM_000138.5(FBN1):c.504C>G (p.Cys168Trp)
|
rs200295020
|
|
NM_000138.5(FBN1):c.5051G>A (p.Gly1684Glu)
|
|
|
NM_000138.5(FBN1):c.5054del (p.Asn1685fs)
|
|
|
NM_000138.5(FBN1):c.5057del (p.Asn1686fs)
|
rs1597545836
|
|
NM_000138.5(FBN1):c.5060G>A (p.Cys1687Tyr)
|
|
|
NM_000138.5(FBN1):c.5060G>T (p.Cys1687Phe)
|
|
|
NM_000138.5(FBN1):c.5061C>A (p.Cys1687Ter)
|
rs1555396838
|
|
NM_000138.5(FBN1):c.5062del (p.Met1688fs)
|
rs1555396837
|
|
NM_000138.5(FBN1):c.5065+1G>A
|
rs1296209846
|
|
NM_000138.5(FBN1):c.5065+1G>C
|
rs1296209846
|
|
NM_000138.5(FBN1):c.5065+1G>T
|
rs1296209846
|
|
NM_000138.5(FBN1):c.5065+2dup
|
rs1555396835
|
|
NM_000138.5(FBN1):c.5066-12C>A
|
rs531105331
|
|
NM_000138.5(FBN1):c.5066-12C>T
|
rs531105331
|
|
NM_000138.5(FBN1):c.5066-14del
|
rs3833018
|
|
NM_000138.5(FBN1):c.5066-14dup
|
rs3833018
|
|
NM_000138.5(FBN1):c.5066-15_5066-14del
|
rs3833018
|
|
NM_000138.5(FBN1):c.5066-15_5066-14dup
|
rs3833018
|
|
NM_000138.5(FBN1):c.5066-19T>C
|
|
|
NM_000138.5(FBN1):c.5066-1G>A
|
rs397515819
|
|
NM_000138.5(FBN1):c.5066-1G>C
|
rs397515819
|
|
NM_000138.5(FBN1):c.5066-1G>T
|
rs397515819
|
|
NM_000138.5(FBN1):c.5066-3T>C
|
rs2141266776
|
|
NM_000138.5(FBN1):c.5066-5dup
|
|
|
NM_000138.5(FBN1):c.5066-9_5086dup
|
rs1566903283
|
|
NM_000138.5(FBN1):c.5066del (p.Asp1689fs)
|
rs727504347
|
|
NM_000138.5(FBN1):c.5073AAG[1] (p.Arg1692del)
|
rs1555396789
|
|
NM_000138.5(FBN1):c.5076A>G (p.Arg1692=)
|
rs2141266766
|
|
NM_000138.5(FBN1):c.5083T>G (p.Cys1695Gly)
|
rs1597545345
|
|
NM_000138.5(FBN1):c.5084G>A (p.Cys1695Tyr)
|
|
|
NM_000138.5(FBN1):c.5087A>G (p.Tyr1696Cys)
|
rs387906625
|
|
NM_000138.5(FBN1):c.5093A>G (p.Asn1698Ser)
|
rs2043293815
|
|
NM_000138.5(FBN1):c.5093del (p.Asn1698fs)
|
rs1597545309
|
|
NM_000138.5(FBN1):c.5094del (p.Tyr1699fs)
|
rs1060501031
|
|
NM_000138.5(FBN1):c.5095T>A (p.Tyr1699Asn)
|
rs2043293738
|
|
NM_000138.5(FBN1):c.5096A>G (p.Tyr1699Cys)
|
rs387906622
|
|
NM_000138.5(FBN1):c.5097C>G (p.Tyr1699Ter)
|
rs368979510
|
|
NM_000138.5(FBN1):c.5099A>G (p.Tyr1700Cys)
|
rs387906626
|
|
NM_000138.5(FBN1):c.509dup (p.Tyr170Ter)
|
|
|
NM_000138.5(FBN1):c.50T>C (p.Leu17Ser)
|
rs794728201
|
|
NM_000138.5(FBN1):c.5100T>C (p.Tyr1700=)
|
|
|
NM_000138.5(FBN1):c.5101_5102delinsTT (p.Ala1701Phe)
|
|
|
NM_000138.5(FBN1):c.5102C>T (p.Ala1701Val)
|
|
|
NM_000138.5(FBN1):c.5109C>T (p.Asn1703=)
|
rs1235270306
|
|
NM_000138.5(FBN1):c.510C>G (p.Tyr170Ter)
|
rs111671429
|
|
NM_000138.5(FBN1):c.510del (p.Thr169_Tyr170insTer)
|
rs1597623670
|
|
NM_000138.5(FBN1):c.5111del (p.Gln1704fs)
|
rs2141266677
|
|
NM_000138.5(FBN1):c.5117G>A (p.Cys1706Tyr)
|
|
|
NM_000138.5(FBN1):c.511G>A (p.Gly171Arg)
|
rs1566934693
|
|
NM_000138.5(FBN1):c.511G>T (p.Gly171Ter)
|
rs1566934693
|
|
NM_000138.5(FBN1):c.5121T>C (p.Asp1707=)
|
rs1031351464
|
|
NM_000138.5(FBN1):c.5125G>T (p.Glu1709Ter)
|
rs1597545257
|
|
NM_000138.5(FBN1):c.5129T>C (p.Leu1710Ser)
|
|
|
NM_000138.5(FBN1):c.5144C>T (p.Thr1715Ile)
|
|
|
NM_000138.5(FBN1):c.5147AGA[1] (p.Lys1717del)
|
rs2043292746
|
|
NM_000138.5(FBN1):c.5156G>A (p.Cys1719Tyr)
|
rs1555396769
|
|
NM_000138.5(FBN1):c.5157C>A (p.Cys1719Ter)
|
rs2043292643
|
|
NM_000138.5(FBN1):c.5158T>C (p.Cys1720Arg)
|
rs1597545230
|
|
NM_000138.5(FBN1):c.5159G>A (p.Cys1720Tyr)
|
|
|
NM_000138.5(FBN1):c.5160C>G (p.Cys1720Trp)
|
|
|
NM_000138.5(FBN1):c.5162G>A (p.Cys1721Tyr)
|
rs2043292594
|
|
NM_000138.5(FBN1):c.5174T>A (p.Ile1725Asn)
|
rs2141266590
|
|
NM_000138.5(FBN1):c.5178C>T (p.Gly1726=)
|
rs1303761807
|
|
NM_000138.5(FBN1):c.5179C>T (p.Arg1727Trp)
|
|
|
NM_000138.5(FBN1):c.5179del (p.Arg1727fs)
|
rs1555396765
|
|
NM_000138.5(FBN1):c.5181G>C (p.Arg1727=)
|
rs1288751290
|
|
NM_000138.5(FBN1):c.5182G>C (p.Ala1728Pro)
|
rs387906624
|
|
NM_000138.5(FBN1):c.5182_5183delinsTA (p.Ala1728Ter)
|
|
|
NM_000138.5(FBN1):c.5183C>T (p.Ala1728Val)
|
rs1131691804
|
|
NM_000138.5(FBN1):c.5187G>A (p.Trp1729Ter)
|
rs1597545199
|
|
NM_000138.5(FBN1):c.5189del (p.Asn1730fs)
|
rs2043292163
|
|
NM_000138.5(FBN1):c.5190del (p.Asn1730fs)
|
rs2043292112
|
|
NM_000138.5(FBN1):c.5196del (p.Cys1733fs)
|
rs2043292041
|
|
NM_000138.5(FBN1):c.51_52del (p.Leu17fs)
|
rs2140787769
|
|
NM_000138.5(FBN1):c.5200G>A (p.Glu1734Lys)
|
|
|
NM_000138.5(FBN1):c.5203dup (p.Gln1735fs)
|
rs1555396760
|
|
NM_000138.5(FBN1):c.5207G>A (p.Cys1736Tyr)
|
rs1060501070
|
|
NM_000138.5(FBN1):c.5208T>A (p.Cys1736Ter)
|
rs794728234
|
|
NM_000138.5(FBN1):c.520G>A (p.Gly174Arg)
|
|
|
NM_000138.5(FBN1):c.5210C>T (p.Pro1737Leu)
|
rs2141266510
|
|
NM_000138.5(FBN1):c.5213_5217del (p.Ile1738fs)
|
rs1555396757
|
|
NM_000138.5(FBN1):c.5214C>T (p.Ile1738=)
|
|
|
NM_000138.5(FBN1):c.5224+11G>A
|
rs776454928
|
|
NM_000138.5(FBN1):c.5225-10A>T
|
|
|
NM_000138.5(FBN1):c.5225-2A>C
|
rs1555396639
|
|
NM_000138.5(FBN1):c.5225-2A>G
|
|
|
NM_000138.5(FBN1):c.5225-3C>A
|
rs876657810
|
|
NM_000138.5(FBN1):c.5232T>C (p.Phe1744=)
|
|
|
NM_000138.5(FBN1):c.5234C>T (p.Ala1745Val)
|
rs2043271430
|
|
NM_000138.5(FBN1):c.5242T>C (p.Cys1748Arg)
|
|
|
NM_000138.5(FBN1):c.5244T>G (p.Cys1748Trp)
|
|
|
NM_000138.5(FBN1):c.5244_5245del (p.Cys1748fs)
|
rs1555396636
|
|
NM_000138.5(FBN1):c.5244_5247dup (p.Ser1750fs)
|
rs1597543486
|
|
NM_000138.5(FBN1):c.524C>G (p.Pro175Arg)
|
|
|
NM_000138.5(FBN1):c.5251C>T (p.Gln1751Ter)
|
rs397515820
|
|
NM_000138.5(FBN1):c.5258_5260dup (p.Pro1753_Gly1754insAla)
|
|
|
NM_000138.5(FBN1):c.5259A>G (p.Pro1753=)
|
|
|
NM_000138.5(FBN1):c.5261G>A (p.Gly1754Asp)
|
|
|
NM_000138.5(FBN1):c.5261G>T (p.Gly1754Val)
|
|
|
NM_000138.5(FBN1):c.5267T>C (p.Val1756Ala)
|
|
|
NM_000138.5(FBN1):c.5270T>C (p.Ile1757Thr)
|
rs2141264003
|
|
NM_000138.5(FBN1):c.5271C>A (p.Ile1757=)
|
|
|
NM_000138.5(FBN1):c.5271C>T (p.Ile1757=)
|
rs1291913287
|
|
NM_000138.5(FBN1):c.5272G>A (p.Asp1758Asn)
|
|
|
NM_000138.5(FBN1):c.5274C>T (p.Asp1758=)
|
rs1566902542
|
|
NM_000138.5(FBN1):c.5277T>G (p.Ile1759Met)
|
|
|
NM_000138.5(FBN1):c.5279A>G (p.Tyr1760Cys)
|
rs1597543452
|
|
NM_000138.5(FBN1):c.5280T>A (p.Tyr1760Ter)
|
rs730880103
|
|
NM_000138.5(FBN1):c.5283C>G (p.Thr1761=)
|
|
|
NM_000138.5(FBN1):c.5284G>A (p.Gly1762Ser)
|
rs387906623
|
|
NM_000138.5(FBN1):c.5290C>T (p.Pro1764Ser)
|
|
|
NM_000138.5(FBN1):c.5291C>A (p.Pro1764His)
|
rs2043270903
|
|
NM_000138.5(FBN1):c.5293G>T (p.Val1765Phe)
|
|
|
NM_000138.5(FBN1):c.5296+10G>A
|
|
|
NM_000138.5(FBN1):c.5296+12C>G
|
rs566030960
|
|
NM_000138.5(FBN1):c.5296+1G>A
|
|
|
NM_000138.5(FBN1):c.5296+1G>C
|
rs1555396630
|
|
NM_000138.5(FBN1):c.5296+2T>G
|
|
|
NM_000138.5(FBN1):c.5296+3G>C
|
|
|
NM_000138.5(FBN1):c.5296+3G>T
|
rs2043270772
|
|
NM_000138.5(FBN1):c.5296+5G>A
|
rs1566902515
|
|
NM_000138.5(FBN1):c.5296+5G>C
|
rs1566902515
|
|
NM_000138.5(FBN1):c.5296+6T>C
|
rs1555396629
|
|
NM_000138.5(FBN1):c.5296+7C>T
|
|
|
NM_000138.5(FBN1):c.5296+8A>C
|
|
|
NM_000138.5(FBN1):c.5296G>C (p.Asp1766His)
|
rs1555396631
|
|
NM_000138.5(FBN1):c.5297-10C>T
|
|
|
NM_000138.5(FBN1):c.5297-15C>T
|
|
|
NM_000138.5(FBN1):c.5297-1G>A
|
rs1555396435
|
|
NM_000138.5(FBN1):c.529T>C (p.Cys177Arg)
|
rs363853
|
|
NM_000138.5(FBN1):c.52G>C (p.Ala18Pro)
|
rs1890262148
|
|
NM_000138.5(FBN1):c.52del (p.Ala18fs)
|
rs1555407423
|
|
NM_000138.5(FBN1):c.5300T>C (p.Ile1767Thr)
|
|
|
NM_000138.5(FBN1):c.5305G>A (p.Glu1769Lys)
|
rs2141260472
|
|
NM_000138.5(FBN1):c.5307G>A (p.Glu1769=)
|
|
|
NM_000138.5(FBN1):c.5309G>A (p.Cys1770Tyr)
|
rs2043241537
|
|
NM_000138.5(FBN1):c.530G>A (p.Cys177Tyr)
|
rs113695103
|
|
NM_000138.5(FBN1):c.5311dup (p.Arg1771fs)
|
rs1597540923
|
|
NM_000138.5(FBN1):c.531dup (p.Glu178Ter)
|
rs1555404800
|
|
NM_000138.5(FBN1):c.5329T>C (p.Cys1777Arg)
|
rs1597540907
|
|
NM_000138.5(FBN1):c.5330G>A (p.Cys1777Tyr)
|
rs1060501069
|
|
NM_000138.5(FBN1):c.5338G>A (p.Gly1780Arg)
|
|
|
NM_000138.5(FBN1):c.5339G>A (p.Gly1780Glu)
|
|
|
NM_000138.5(FBN1):c.5339G>T (p.Gly1780Val)
|
rs2141260428
|
|
NM_000138.5(FBN1):c.5343G>C (p.Val1781=)
|
|
|
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.5359G>T (p.Gly1787Cys)
|
|
|
NM_000138.5(FBN1):c.5360G>A (p.Gly1787Asp)
|
rs2141260386
|
|
NM_000138.5(FBN1):c.5363G>A (p.Ser1788Asn)
|
rs1303042338
|
|
NM_000138.5(FBN1):c.5365T>A (p.Phe1789Ile)
|
|
|
NM_000138.5(FBN1):c.5367C>T (p.Phe1789=)
|
|
|
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.5369G>C (p.Arg1790Pro)
|
rs1555396428
|
|
NM_000138.5(FBN1):c.5371T>C (p.Cys1791Arg)
|
rs1555396427
|
|
NM_000138.5(FBN1):c.5371T>G (p.Cys1791Gly)
|
rs1555396427
|
|
NM_000138.5(FBN1):c.5372G>A (p.Cys1791Tyr)
|
rs886038848
|
|
NM_000138.5(FBN1):c.5373T>G (p.Cys1791Trp)
|
rs1555396426
|
|
NM_000138.5(FBN1):c.5377T>A (p.Cys1793Ser)
|
rs1555396424
|
|
NM_000138.5(FBN1):c.5377T>C (p.Cys1793Arg)
|
rs1555396424
|
|
NM_000138.5(FBN1):c.5378G>A (p.Cys1793Tyr)
|
rs1597540854
|
|
NM_000138.5(FBN1):c.538+12T>A
|
|
|
NM_000138.5(FBN1):c.538+12del
|
rs755209856
|
|
NM_000138.5(FBN1):c.538+2T>C
|
rs1555404799
|
|
NM_000138.5(FBN1):c.5387del (p.Gly1796fs)
|
rs2043240342
|
|
NM_000138.5(FBN1):c.539-2A>G
|
rs2141358521
|
|
NM_000138.5(FBN1):c.5391C>T (p.Phe1797=)
|
rs775373513
|
|
NM_000138.5(FBN1):c.5396dup (p.Tyr1799Ter)
|
|
|
NM_000138.5(FBN1):c.5403C>T (p.Asp1801=)
|
|
|
NM_000138.5(FBN1):c.5405A>G (p.Lys1802Arg)
|
rs886051248
|
|
NM_000138.5(FBN1):c.5409G>A (p.Leu1803=)
|
rs906226501
|
|
NM_000138.5(FBN1):c.5416T>C (p.Cys1806Arg)
|
rs1555396419
|
|
NM_000138.5(FBN1):c.5416T>G (p.Cys1806Gly)
|
rs1555396419
|
|
NM_000138.5(FBN1):c.5416del (p.Cys1806fs)
|
rs1057518912
|
|
NM_000138.5(FBN1):c.5417G>T (p.Cys1806Phe)
|
rs1555396418
|
|
NM_000138.5(FBN1):c.5418T>G (p.Cys1806Trp)
|
rs2043239853
|
|
NM_000138.5(FBN1):c.5422+13A>T
|
|
|
NM_000138.5(FBN1):c.5422+1G>A
|
rs1064793116
|
|
NM_000138.5(FBN1):c.5422+1del
|
rs2141260277
|
|
NM_000138.5(FBN1):c.5422+2T>C
|
rs1555396417
|
|
NM_000138.5(FBN1):c.5422_5422+1delinsTT
|
rs1566901570
|
|
NM_000138.5(FBN1):c.5423-16T>C
|
|
|
NM_000138.5(FBN1):c.5423-17T>G
|
|
|
NM_000138.5(FBN1):c.5423-18G>T
|
|
|
NM_000138.5(FBN1):c.5423-19A>G
|
|
|
NM_000138.5(FBN1):c.5423-1G>C
|
|
|
NM_000138.5(FBN1):c.5423-30_5423-28del
|
rs56354352
|
|
NM_000138.5(FBN1):c.5423A>G (p.Asp1808Gly)
|
rs2141256144
|
|
NM_000138.5(FBN1):c.5425A>G (p.Ile1809Val)
|
|
|
NM_000138.5(FBN1):c.5427T>C (p.Ile1809=)
|
rs2141256134
|
|
NM_000138.5(FBN1):c.5428G>T (p.Asp1810Tyr)
|
rs2043210566
|
|
NM_000138.5(FBN1):c.5429A>T (p.Asp1810Val)
|
rs2043210544
|
|
NM_000138.5(FBN1):c.5431G>A (p.Glu1811Lys)
|
rs761857514
|
|
NM_000138.5(FBN1):c.5431G>T (p.Glu1811Ter)
|
rs761857514
|
|
NM_000138.5(FBN1):c.5432A>G (p.Glu1811Gly)
|
rs2141256116
|
|
NM_000138.5(FBN1):c.5434T>A (p.Cys1812Ser)
|
|
|
NM_000138.5(FBN1):c.5434T>C (p.Cys1812Arg)
|
rs1597537935
|
|
NM_000138.5(FBN1):c.5435G>A (p.Cys1812Tyr)
|
rs1555396213
|
|
NM_000138.5(FBN1):c.5435_5436del (p.Cys1812fs)
|
|
|
NM_000138.5(FBN1):c.5437C>T (p.Gln1813Ter)
|
rs397515821
|
|
NM_000138.5(FBN1):c.5439G>C (p.Gln1813His)
|
|
|
NM_000138.5(FBN1):c.543C>G (p.Tyr181Ter)
|
rs1597593852
|
|
NM_000138.5(FBN1):c.5444del (p.Gly1815fs)
|
rs2141256088
|
|
NM_000138.5(FBN1):c.5447del (p.Pro1816fs)
|
|
|
NM_000138.5(FBN1):c.5448A>G (p.Pro1816=)
|
rs2043210295
|
|
NM_000138.5(FBN1):c.5452T>G (p.Cys1818Gly)
|
|
|
NM_000138.5(FBN1):c.5453G>A (p.Cys1818Tyr)
|
rs2141256069
|
|
NM_000138.5(FBN1):c.5458C>A (p.Arg1820Ser)
|
|
|
NM_000138.5(FBN1):c.5459_5465del (p.Arg1820fs)
|
|
|
NM_000138.5(FBN1):c.5467_5474dup (p.Ile1825fs)
|
rs2141256027
|
|
NM_000138.5(FBN1):c.5470T>C (p.Cys1824Arg)
|
rs1131691478
|
|
NM_000138.5(FBN1):c.5470_5483dup (p.Gly1829fs)
|
rs1555396202
|
|
NM_000138.5(FBN1):c.5471G>T (p.Cys1824Phe)
|
rs1597537858
|
|
NM_000138.5(FBN1):c.5473A>G (p.Ile1825Val)
|
rs2141256032
|
|
NM_000138.5(FBN1):c.5477A>G (p.Asn1826Ser)
|
rs2043210015
|
|
NM_000138.5(FBN1):c.5478C>T (p.Asn1826=)
|
rs1213848361
|
|
NM_000138.5(FBN1):c.5482G>A (p.Ala1828Thr)
|
rs1566900504
|
|
NM_000138.5(FBN1):c.5485G>C (p.Gly1829Arg)
|
rs1597537835
|
|
NM_000138.5(FBN1):c.5485G>T (p.Gly1829Cys)
|
|
|
NM_000138.5(FBN1):c.5486dup (p.Ser1830fs)
|
|
|
NM_000138.5(FBN1):c.5493C>A (p.Tyr1831Ter)
|
rs1555396201
|
|
NM_000138.5(FBN1):c.5493C>G (p.Tyr1831Ter)
|
rs1555396201
|
|
NM_000138.5(FBN1):c.5494C>T (p.Arg1832Cys)
|
|
|
NM_000138.5(FBN1):c.5495G>T (p.Arg1832Leu)
|
|
|
NM_000138.5(FBN1):c.5498G>A (p.Cys1833Tyr)
|
rs1597537815
|
|
NM_000138.5(FBN1):c.5499dup (p.Asp1834Ter)
|
rs1555396199
|
|
NM_000138.5(FBN1):c.5503T>A (p.Cys1835Ser)
|
rs1555396198
|
|
NM_000138.5(FBN1):c.5503T>C (p.Cys1835Arg)
|
rs1555396198
|
|
NM_000138.5(FBN1):c.5503_5517del (p.Cys1835_Tyr1839del)
|
rs2141255919
|
|
NM_000138.5(FBN1):c.5504G>A (p.Cys1835Tyr)
|
rs111929350
|
|
NM_000138.5(FBN1):c.5504G>C (p.Cys1835Ser)
|
rs111929350
|
|
NM_000138.5(FBN1):c.5504G>T (p.Cys1835Phe)
|
rs111929350
|
|
NM_000138.5(FBN1):c.5512G>C (p.Gly1838Arg)
|
rs397515823
|
|
NM_000138.5(FBN1):c.5512G>T (p.Gly1838Cys)
|
rs397515823
|
|
NM_000138.5(FBN1):c.5513G>A (p.Gly1838Asp)
|
rs78970689
|
|
NM_000138.5(FBN1):c.5513del (p.Gly1838fs)
|
rs2141255941
|
|
NM_000138.5(FBN1):c.5516A>C (p.Tyr1839Ser)
|
|
|
NM_000138.5(FBN1):c.5516A>G (p.Tyr1839Cys)
|
rs758725993
|
|
NM_000138.5(FBN1):c.551del (p.Gly184fs)
|
|
|
NM_000138.5(FBN1):c.5520del (p.Phe1841fs)
|
rs1555396188
|
|
NM_000138.5(FBN1):c.5525C>T (p.Thr1842Ile)
|
rs1566900477
|
|
NM_000138.5(FBN1):c.5532A>G (p.Thr1844=)
|
|
|
NM_000138.5(FBN1):c.5533G>T (p.Gly1845Ter)
|
|
|
NM_000138.5(FBN1):c.5534del (p.Gly1845fs)
|
rs2141255875
|
|
NM_000138.5(FBN1):c.5536C>T (p.Gln1846Ter)
|
rs1566900473
|
|
NM_000138.5(FBN1):c.5539T>C (p.Cys1847Arg)
|
rs1555396186
|
|
NM_000138.5(FBN1):c.5540G>A (p.Cys1847Tyr)
|
rs1555396185
|
|
NM_000138.5(FBN1):c.5545+12C>T
|
rs193922213
|
|
NM_000138.5(FBN1):c.5545+14del
|
rs748182794
|
|
NM_000138.5(FBN1):c.5545+15A>G
|
|
|
NM_000138.5(FBN1):c.5545+19G>C
|
|
|
NM_000138.5(FBN1):c.5545+1G>A
|
rs1260109901
|
|
NM_000138.5(FBN1):c.5545+1del
|
rs1566900469
|
|
NM_000138.5(FBN1):c.5545+2T>C
|
rs2043209059
|
|
NM_000138.5(FBN1):c.5545+3A>G
|
|
|
NM_000138.5(FBN1):c.5546-11C>G
|
|
|
NM_000138.5(FBN1):c.5546-15G>A
|
|
|
NM_000138.5(FBN1):c.5546-1G>A
|
rs1566899590
|
|
NM_000138.5(FBN1):c.5546-3C>G
|
|
|
NM_000138.5(FBN1):c.5546-8A>T
|
|
|
NM_000138.5(FBN1):c.554C>T (p.Pro185Leu)
|
|
|
NM_000138.5(FBN1):c.554_556del (p.Pro185_Cys186delinsArg)
|
rs1555401701
|
|
NM_000138.5(FBN1):c.5552A>G (p.Asn1851Ser)
|
rs193922214
|
|
NM_000138.5(FBN1):c.5555A>C (p.Glu1852Ala)
|
|
|
NM_000138.5(FBN1):c.5555A>G (p.Glu1852Gly)
|
rs864622676
|
|
NM_000138.5(FBN1):c.5557T>A (p.Cys1853Ser)
|
rs1555395990
|
|
NM_000138.5(FBN1):c.5557T>C (p.Cys1853Arg)
|
rs1555395990
|
|
NM_000138.5(FBN1):c.5558G>A (p.Cys1853Tyr)
|
rs1555395989
|
|
NM_000138.5(FBN1):c.5558G>C (p.Cys1853Ser)
|
rs1555395989
|
|
NM_000138.5(FBN1):c.5559T>G (p.Cys1853Trp)
|
|
|
NM_000138.5(FBN1):c.5560C>T (p.Gln1854Ter)
|
rs2141252259
|
|
NM_000138.5(FBN1):c.5563G>T (p.Glu1855Ter)
|
|
|
NM_000138.5(FBN1):c.5566A>G (p.Ile1856Val)
|
rs2141252254
|
|
NM_000138.5(FBN1):c.5569C>T (p.Pro1857Ser)
|
rs2043179615
|
|
NM_000138.5(FBN1):c.5571del (p.Asn1858fs)
|
rs1597535305
|
|
NM_000138.5(FBN1):c.5573A>C (p.Asn1858Thr)
|
rs751472490
|
|
NM_000138.5(FBN1):c.5575A>G (p.Ile1859Val)
|
|
|
NM_000138.5(FBN1):c.5576T>C (p.Ile1859Thr)
|
|
|
NM_000138.5(FBN1):c.5577dup (p.Cys1860fs)
|
|
|
NM_000138.5(FBN1):c.5578T>C (p.Cys1860Arg)
|
|
|
NM_000138.5(FBN1):c.5579G>A (p.Cys1860Tyr)
|
rs1597535300
|
|
NM_000138.5(FBN1):c.5581A>C (p.Ser1861Arg)
|
rs2141252219
|
|
NM_000138.5(FBN1):c.5586T>C (p.His1862=)
|
|
|
NM_000138.5(FBN1):c.5587G>A (p.Gly1863Arg)
|
rs1555395987
|
|
NM_000138.5(FBN1):c.5588G>A (p.Gly1863Glu)
|
rs113086760
|
|
NM_000138.5(FBN1):c.5590C>T (p.Gln1864Ter)
|
rs1555395985
|
|
NM_000138.5(FBN1):c.5593T>C (p.Cys1865Arg)
|
rs1555395984
|
|
NM_000138.5(FBN1):c.5597T>C (p.Ile1866Thr)
|
rs773133679
|
|
NM_000138.5(FBN1):c.5603C>G (p.Thr1868Arg)
|
rs145082616
|
|
NM_000138.5(FBN1):c.5604A>G (p.Thr1868=)
|
|
|
NM_000138.5(FBN1):c.5607T>C (p.Val1869=)
|
rs1597535252
|
|
NM_000138.5(FBN1):c.5607dup (p.Gly1870fs)
|
|
|
NM_000138.5(FBN1):c.560T>A (p.Phe187Tyr)
|
|
|
NM_000138.5(FBN1):c.5612_5613del (p.Ser1871fs)
|
rs1555395981
|
|
NM_000138.5(FBN1):c.5613C>A (p.Ser1871Arg)
|
rs776310363
|
|
NM_000138.5(FBN1):c.5613del (p.Tyr1873fs)
|
rs1566899541
|
|
NM_000138.5(FBN1):c.5619T>C (p.Tyr1873=)
|
|
|
NM_000138.5(FBN1):c.561del (p.Phe187fs)
|
rs397515825
|
|
NM_000138.5(FBN1):c.5621G>T (p.Cys1874Phe)
|
rs2141252159
|
|
NM_000138.5(FBN1):c.5626T>C (p.Cys1876Arg)
|
rs1555395980
|
|
NM_000138.5(FBN1):c.5627G>A (p.Cys1876Tyr)
|
rs112728248
|
|
NM_000138.5(FBN1):c.5627G>C (p.Cys1876Ser)
|
rs112728248
|
|
NM_000138.5(FBN1):c.5628C>G (p.Cys1876Trp)
|
rs2141252143
|
|
NM_000138.5(FBN1):c.5635_5636del (p.Gly1879fs)
|
rs1555395978
|
|
NM_000138.5(FBN1):c.5636G>A (p.Gly1879Asp)
|
rs2043178850
|
|
NM_000138.5(FBN1):c.5637T>G (p.Gly1879=)
|
|
|
NM_000138.5(FBN1):c.5638T>G (p.Phe1880Val)
|
rs1555395977
|
|
NM_000138.5(FBN1):c.5639T>C (p.Phe1880Ser)
|
rs1597535186
|
|
NM_000138.5(FBN1):c.5651A>T (p.Asp1884Val)
|
|
|
NM_000138.5(FBN1):c.5655C>G (p.Asp1885Glu)
|
|
|
NM_000138.5(FBN1):c.5656C>T (p.Gln1886Ter)
|
|
|
NM_000138.5(FBN1):c.565G>T (p.Val189Leu)
|
rs2044026712
|
|
NM_000138.5(FBN1):c.565del (p.Thr188_Val189insTer)
|
rs2141358467
|
|
NM_000138.5(FBN1):c.5664G>A (p.Met1888Ile)
|
rs1060501056
|
|
NM_000138.5(FBN1):c.5666G>A (p.Cys1889Tyr)
|
rs1566899500
|
|
NM_000138.5(FBN1):c.5666G>T (p.Cys1889Phe)
|
rs1566899500
|
|
NM_000138.5(FBN1):c.5667C>G (p.Cys1889Trp)
|
|
|
NM_000138.5(FBN1):c.5671+1G>A
|
rs112104270
|
|
NM_000138.5(FBN1):c.5671+1G>T
|
rs112104270
|
|
NM_000138.5(FBN1):c.5671+2T>C
|
|
|
NM_000138.5(FBN1):c.5671G>A (p.Asp1891Asn)
|
rs193922216
|
|
NM_000138.5(FBN1):c.5671G>C (p.Asp1891His)
|
rs193922216
|
|
NM_000138.5(FBN1):c.5671G>T (p.Asp1891Tyr)
|
|
|
NM_000138.5(FBN1):c.5672-14T>C
|
|
|
NM_000138.5(FBN1):c.5672-1G>A
|
rs1555395849
|
|
NM_000138.5(FBN1):c.5672-2A>G
|
rs1060501053
|
|
NM_000138.5(FBN1):c.5672-2A>T
|
|
|
NM_000138.5(FBN1):c.5672-3T>C
|
rs193922217
|
|
NM_000138.5(FBN1):c.5672-4C>G
|
|
|
NM_000138.5(FBN1):c.5672-5A>G
|
|
|
NM_000138.5(FBN1):c.5672-6T>A
|
rs1555395850
|
|
NM_000138.5(FBN1):c.5672-87A>G
|
rs1060501029
|
|
NM_000138.5(FBN1):c.5672-8C>G
|
rs2141250478
|
|
NM_000138.5(FBN1):c.5674A>G (p.Ile1892Val)
|
rs760170973
|
|
NM_000138.5(FBN1):c.5674A>T (p.Ile1892Leu)
|
rs760170973
|
|
NM_000138.5(FBN1):c.5674del (p.Asp1891_Ile1892insTer)
|
|
|
NM_000138.5(FBN1):c.5675_5676del (p.Ile1892fs)
|
rs1597533713
|
|
NM_000138.5(FBN1):c.5678A>G (p.Asn1893Ser)
|
rs1597533707
|
|
NM_000138.5(FBN1):c.5679T>G (p.Asn1893Lys)
|
rs1597533706
|
|
NM_000138.5(FBN1):c.5683T>C (p.Cys1895Arg)
|
rs878853686
|
|
NM_000138.5(FBN1):c.5684G>A (p.Cys1895Tyr)
|
|
|
NM_000138.5(FBN1):c.5684del (p.Cys1895fs)
|
rs1555395846
|
|
NM_000138.5(FBN1):c.5688_5689del (p.Asp1898fs)
|
rs1555395843
|
|
NM_000138.5(FBN1):c.5688_5691del (p.Arg1897fs)
|
rs1566898828
|
|
NM_000138.5(FBN1):c.5695del (p.Ala1899fs)
|
rs2043163540
|
|
NM_000138.5(FBN1):c.5697C>T (p.Ala1899=)
|
rs772617187
|
|
NM_000138.5(FBN1):c.5698T>C (p.Cys1900Arg)
|
|
|
NM_000138.5(FBN1):c.5699G>A (p.Cys1900Tyr)
|
rs794728237
|
|
NM_000138.5(FBN1):c.5699G>T (p.Cys1900Phe)
|
rs794728237
|
|
NM_000138.5(FBN1):c.56C>T (p.Ser19Phe)
|
rs193922218
|
|
NM_000138.5(FBN1):c.5703del (p.Asn1902fs)
|
|
|
NM_000138.5(FBN1):c.5706T>C (p.Asn1902=)
|
rs1597533673
|
|
NM_000138.5(FBN1):c.570C>T (p.Ile190=)
|
|
|
NM_000138.5(FBN1):c.5711C>T (p.Thr1904Ile)
|
rs1269096957
|
|
NM_000138.5(FBN1):c.5714G>C (p.Cys1905Ser)
|
rs112655848
|
|
NM_000138.5(FBN1):c.5714G>T (p.Cys1905Phe)
|
|
|
NM_000138.5(FBN1):c.5716del (p.Arg1906fs)
|
rs2141250394
|
|
NM_000138.5(FBN1):c.5718G>C (p.Arg1906=)
|
rs1403178913
|
|
NM_000138.5(FBN1):c.5719A>G (p.Asn1907Asp)
|
rs397515824
|
|
NM_000138.5(FBN1):c.5720A>G (p.Asn1907Ser)
|
rs1060501087
|
|
NM_000138.5(FBN1):c.5721C>G (p.Asn1907Lys)
|
rs397515826
|
|
NM_000138.5(FBN1):c.5722A>C (p.Thr1908Pro)
|
rs1555395834
|
|
NM_000138.5(FBN1):c.5725A>C (p.Ile1909Leu)
|
rs886038785
|
|
NM_000138.5(FBN1):c.5725A>G (p.Ile1909Val)
|
|
|
NM_000138.5(FBN1):c.5726T>C (p.Ile1909Thr)
|
rs794728333
|
|
NM_000138.5(FBN1):c.5728G>T (p.Gly1910Cys)
|
rs1597533619
|
|
NM_000138.5(FBN1):c.5729G>T (p.Gly1910Val)
|
|
|
NM_000138.5(FBN1):c.572G>T (p.Ser191Ile)
|
|
|
NM_000138.5(FBN1):c.5734_5736del (p.Phe1912del)
|
|
|
NM_000138.5(FBN1):c.5735T>C (p.Phe1912Ser)
|
rs1555395830
|
|
NM_000138.5(FBN1):c.5736C>G (p.Phe1912Leu)
|
rs1555395829
|
|
NM_000138.5(FBN1):c.5740T>G (p.Cys1914Gly)
|
rs2141250333
|
|
NM_000138.5(FBN1):c.5741G>A (p.Cys1914Tyr)
|
|
|
NM_000138.5(FBN1):c.5741G>T (p.Cys1914Phe)
|
rs1555395827
|
|
NM_000138.5(FBN1):c.5743C>A (p.Arg1915Ser)
|
rs1555395826
|
|
NM_000138.5(FBN1):c.5743C>T (p.Arg1915Cys)
|
rs1555395826
|
|
NM_000138.5(FBN1):c.5744G>A (p.Arg1915His)
|
|
|
NM_000138.5(FBN1):c.5746T>G (p.Cys1916Gly)
|
rs794728238
|
|
NM_000138.5(FBN1):c.5746_5748dup (p.Cys1916dup)
|
rs1597533588
|
|
NM_000138.5(FBN1):c.5747G>A (p.Cys1916Tyr)
|
rs397515827
|
|
NM_000138.5(FBN1):c.5747G>T (p.Cys1916Phe)
|
rs397515827
|
|
NM_000138.5(FBN1):c.5755G>A (p.Gly1919Ser)
|
rs867549163
|
|
NM_000138.5(FBN1):c.5756del (p.Gly1919fs)
|
rs1555395825
|
|
NM_000138.5(FBN1):c.5762T>G (p.Ile1921Ser)
|
|
|
NM_000138.5(FBN1):c.5770C>A (p.His1924Asn)
|
rs1201849394
|
|
NM_000138.5(FBN1):c.5774A>G (p.Asn1925Ser)
|
rs781395141
|
|
NM_000138.5(FBN1):c.577_583delinsAA (p.Gln193fs)
|
rs2044026528
|
|
NM_000138.5(FBN1):c.577del (p.Gln193fs)
|
rs1555401697
|
|
NM_000138.5(FBN1):c.5782T>C (p.Cys1928Arg)
|
rs2043162224
|
|
NM_000138.5(FBN1):c.5783G>A (p.Cys1928Tyr)
|
rs587782947
|
|
NM_000138.5(FBN1):c.5783G>T (p.Cys1928Phe)
|
rs587782947
|
|
NM_000138.5(FBN1):c.5788+10del
|
rs761983874
|
|
NM_000138.5(FBN1):c.5788+13_5788+14del
|
rs886038252
|
|
NM_000138.5(FBN1):c.5788+15T>A
|
rs543458649
|
|
NM_000138.5(FBN1):c.5788+15T>C
|
rs543458649
|
|
NM_000138.5(FBN1):c.5788+1G>A
|
rs1555395819
|
|
NM_000138.5(FBN1):c.5788+1G>T
|
rs1555395819
|
|
NM_000138.5(FBN1):c.5788+2T>C
|
rs1555395818
|
|
NM_000138.5(FBN1):c.5788+36C>A
|
rs1555395814
|
|
NM_000138.5(FBN1):c.5788+4C>A
|
rs577301285
|
|
NM_000138.5(FBN1):c.5788+4C>T
|
rs577301285
|
|
NM_000138.5(FBN1):c.5788+5G>C
|
|
|
NM_000138.5(FBN1):c.5788+5G>T
|
rs193922219
|
|
NM_000138.5(FBN1):c.5788+6T>G
|
rs1566898741
|
|
NM_000138.5(FBN1):c.5788G>A (p.Asp1930Asn)
|
rs1555395820
|
|
NM_000138.5(FBN1):c.5788G>C (p.Asp1930His)
|
rs1555395820
|
|
NM_000138.5(FBN1):c.5788G>T (p.Asp1930Tyr)
|
rs1555395820
|
|
NM_000138.5(FBN1):c.5789-10T>A
|
rs2141249325
|
|
NM_000138.5(FBN1):c.5789-11T>G
|
|
|
NM_000138.5(FBN1):c.5789-13G>A
|
rs777593835
|
|
NM_000138.5(FBN1):c.5789-14G>A
|
|
|
NM_000138.5(FBN1):c.5789-1G>A
|
rs2043152080
|
|
NM_000138.5(FBN1):c.5789A>G (p.Asp1930Gly)
|
|
|
NM_000138.5(FBN1):c.5791G>A (p.Val1931Ile)
|
rs1555395768
|
|
NM_000138.5(FBN1):c.5795A>C (p.Asp1932Ala)
|
rs1329934461
|
|
NM_000138.5(FBN1):c.5797G>A (p.Glu1933Lys)
|
rs2141249307
|
|
NM_000138.5(FBN1):c.57C>G (p.Ser19=)
|
rs1890261910
|
|
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.5801G>A (p.Cys1934Tyr)
|
rs794728240
|
|
NM_000138.5(FBN1):c.5801G>C (p.Cys1934Ser)
|
rs794728240
|
|
NM_000138.5(FBN1):c.5802T>G (p.Cys1934Trp)
|
rs2141249297
|
|
NM_000138.5(FBN1):c.5806A>G (p.Ser1936Gly)
|
rs869025409
|
|
NM_000138.5(FBN1):c.5809G>T (p.Gly1937Ter)
|
rs1555395766
|
|
NM_000138.5(FBN1):c.5810G>A (p.Gly1937Glu)
|
rs1566898444
|
|
NM_000138.5(FBN1):c.5817del (p.Asn1940fs)
|
rs794728311
|
|
NM_000138.5(FBN1):c.5821C>T (p.Leu1941Phe)
|
rs1555395763
|
|
NM_000138.5(FBN1):c.5823_5824del (p.Cys1942fs)
|
rs1060501089
|
|
NM_000138.5(FBN1):c.5824T>A (p.Cys1942Ser)
|
rs1555395762
|
|
NM_000138.5(FBN1):c.5824T>C (p.Cys1942Arg)
|
rs1555395762
|
|
NM_000138.5(FBN1):c.5824T>G (p.Cys1942Gly)
|
rs1555395762
|
|
NM_000138.5(FBN1):c.5825G>A (p.Cys1942Tyr)
|
rs794728241
|
|
NM_000138.5(FBN1):c.5826C>A (p.Cys1942Ter)
|
rs363806
|
|
NM_000138.5(FBN1):c.5828G>T (p.Arg1943Ile)
|
rs1566898433
|
|
NM_000138.5(FBN1):c.5831del (p.Asn1944fs)
|
|
|
NM_000138.5(FBN1):c.5834G>A (p.Gly1945Asp)
|
rs1555395760
|
|
NM_000138.5(FBN1):c.5836C>T (p.Gln1946Ter)
|
|
|
NM_000138.5(FBN1):c.5836del (p.Gln1946fs)
|
rs2141249251
|
|
NM_000138.5(FBN1):c.5838A>G (p.Gln1946=)
|
rs759049300
|
|
NM_000138.5(FBN1):c.5839T>A (p.Cys1947Ser)
|
rs1131691938
|
|
NM_000138.5(FBN1):c.5839T>C (p.Cys1947Arg)
|
rs1131691938
|
|
NM_000138.5(FBN1):c.5839T>G (p.Cys1947Gly)
|
rs1131691938
|
|
NM_000138.5(FBN1):c.5840G>A (p.Cys1947Tyr)
|
rs397515828
|
|
NM_000138.5(FBN1):c.5846_5850dup (p.Val1951fs)
|
rs2043151379
|
|
NM_000138.5(FBN1):c.5850A>G (p.Thr1950=)
|
rs2043151355
|
|
NM_000138.5(FBN1):c.5855G>T (p.Gly1952Val)
|
rs2141249218
|
|
NM_000138.5(FBN1):c.5856G>T (p.Gly1952=)
|
|
|
NM_000138.5(FBN1):c.5856del (p.Ser1953fs)
|
|
|
NM_000138.5(FBN1):c.5857dup (p.Ser1953fs)
|
rs1555395757
|
|
NM_000138.5(FBN1):c.5860_5863dup (p.Gln1955fs)
|
rs2043151079
|
|
NM_000138.5(FBN1):c.5861T>G (p.Phe1954Cys)
|
rs730880104
|
|
NM_000138.5(FBN1):c.5861del (p.Phe1954fs)
|
rs1555395756
|
|
NM_000138.5(FBN1):c.5862C>G (p.Phe1954Leu)
|
|
|
NM_000138.5(FBN1):c.5863C>T (p.Gln1955Ter)
|
rs363807
|
|
NM_000138.5(FBN1):c.5863CAGTGC[1] (p.1955QC[1])
|
|
|
NM_000138.5(FBN1):c.5863del (p.Gln1955fs)
|
rs1555395753
|
|
NM_000138.5(FBN1):c.5864A>G (p.Gln1955Arg)
|
|
|
NM_000138.5(FBN1):c.5869C>T (p.Gln1957Ter)
|
rs397515829
|
|
NM_000138.5(FBN1):c.5872T>A (p.Cys1958Ser)
|
rs2141249174
|
|
NM_000138.5(FBN1):c.5874C>A (p.Cys1958Ter)
|
rs1555395750
|
|
NM_000138.5(FBN1):c.5885A>G (p.Tyr1962Cys)
|
rs1346043320
|
|
NM_000138.5(FBN1):c.5885dup (p.Tyr1962Ter)
|
|
|
NM_000138.5(FBN1):c.5888del (p.Glu1963fs)
|
rs727504315
|
|
NM_000138.5(FBN1):c.5892G>A (p.Val1964=)
|
|
|
NM_000138.5(FBN1):c.5898del (p.Asp1967fs)
|
rs1555395747
|
|
NM_000138.5(FBN1):c.589G>C (p.Gly197Arg)
|
rs886051251
|
|
NM_000138.5(FBN1):c.5902G>A (p.Gly1968Arg)
|
rs768997549
|
|
NM_000138.5(FBN1):c.5905del (p.Arg1969fs)
|
rs1566898399
|
|
NM_000138.5(FBN1):c.590del (p.Gly197fs)
|
rs1555401695
|
|
NM_000138.5(FBN1):c.5911T>C (p.Cys1971Arg)
|
rs1555395745
|
|
NM_000138.5(FBN1):c.5911T>G (p.Cys1971Gly)
|
rs1555395745
|
|
NM_000138.5(FBN1):c.5912G>A (p.Cys1971Tyr)
|
rs111239111
|
|
NM_000138.5(FBN1):c.5912del (p.Cys1971fs)
|
rs2043150170
|
|
NM_000138.5(FBN1):c.5917+11G>A
|
|
|
NM_000138.5(FBN1):c.5917+15del
|
|
|
NM_000138.5(FBN1):c.5917+1G>A
|
rs363808
|
|
NM_000138.5(FBN1):c.5917+1G>T
|
rs363808
|
|
NM_000138.5(FBN1):c.5917+1_5917+11del
|
rs2141249066
|
|
NM_000138.5(FBN1):c.5917+20A>G
|
|
|
NM_000138.5(FBN1):c.5917+3A>C
|
rs202158568
|
|
NM_000138.5(FBN1):c.5917+5G>A
|
rs1555395743
|
|
NM_000138.5(FBN1):c.5917+5G>T
|
rs1555395743
|
|
NM_000138.5(FBN1):c.5917+8C>T
|
rs1566898389
|
|
NM_000138.5(FBN1):c.5918-1G>A
|
rs1566898144
|
|
NM_000138.5(FBN1):c.5918-1G>C
|
rs1566898144
|
|
NM_000138.5(FBN1):c.5918-2A>G
|
rs869025418
|
|
NM_000138.5(FBN1):c.5918A>G (p.Asp1973Gly)
|
rs794728242
|
|
NM_000138.5(FBN1):c.5919dup (p.Ile1974fs)
|
rs1555395670
|
|
NM_000138.5(FBN1):c.5924A>G (p.Asn1975Ser)
|
rs2141248181
|
|
NM_000138.5(FBN1):c.5925T>A (p.Asn1975Lys)
|
|
|
NM_000138.5(FBN1):c.5926G>A (p.Glu1976Lys)
|
|
|
NM_000138.5(FBN1):c.5926del (p.Glu1976fs)
|
|
|
NM_000138.5(FBN1):c.5927A>C (p.Glu1976Ala)
|
rs1555395665
|
|
NM_000138.5(FBN1):c.5927A>G (p.Glu1976Gly)
|
rs1555395665
|
|
NM_000138.5(FBN1):c.5929T>A (p.Cys1977Ser)
|
rs2141248174
|
|
NM_000138.5(FBN1):c.592C>T (p.Gln198Ter)
|
rs1060501035
|
|
NM_000138.5(FBN1):c.5930G>A (p.Cys1977Tyr)
|
rs1555395663
|
|
NM_000138.5(FBN1):c.5931T>A (p.Cys1977Ter)
|
|
|
NM_000138.5(FBN1):c.5936T>C (p.Leu1979Pro)
|
|
|
NM_000138.5(FBN1):c.5937_5938insT (p.Glu1980Ter)
|
rs2141248157
|
|
NM_000138.5(FBN1):c.5938G>C (p.Glu1980Gln)
|
rs370940450
|
|
NM_000138.5(FBN1):c.5943del (p.Arg1982fs)
|
rs1555395661
|
|
NM_000138.5(FBN1):c.5950T>C (p.Cys1984Arg)
|
rs1555395659
|
|
NM_000138.5(FBN1):c.5951G>A (p.Cys1984Tyr)
|
rs1555395658
|
|
NM_000138.5(FBN1):c.5952T>G (p.Cys1984Trp)
|
|
|
NM_000138.5(FBN1):c.5956_5957insA (p.Pro1986fs)
|
rs2141248130
|
|
NM_000138.5(FBN1):c.5959G>T (p.Gly1987Cys)
|
|
|
NM_000138.5(FBN1):c.595C>G (p.Leu199Val)
|
rs1221144366
|
|
NM_000138.5(FBN1):c.595C>T (p.Leu199Phe)
|
rs1221144366
|
|
NM_000138.5(FBN1):c.5960G>C (p.Gly1987Ala)
|
rs2043140093
|
|
NM_000138.5(FBN1):c.5961dup (p.Thr1988fs)
|
rs1555395653
|
|
NM_000138.5(FBN1):c.5965T>A (p.Cys1989Ser)
|
rs2043139988
|
|
NM_000138.5(FBN1):c.5965T>G (p.Cys1989Gly)
|
rs2043139988
|
|
NM_000138.5(FBN1):c.5966G>C (p.Cys1989Ser)
|
rs1597531796
|
|
NM_000138.5(FBN1):c.5966G>T (p.Cys1989Phe)
|
rs1597531796
|
|
NM_000138.5(FBN1):c.5967T>G (p.Cys1989Trp)
|
rs1555395652
|
|
NM_000138.5(FBN1):c.5971A>C (p.Asn1991His)
|
rs794728243
|
|
NM_000138.5(FBN1):c.5971_5972del (p.Asn1991fs)
|
|
|
NM_000138.5(FBN1):c.5976G>C (p.Leu1992Phe)
|
|
|
NM_000138.5(FBN1):c.5978del (p.Asp1993fs)
|
rs2043139896
|
|
NM_000138.5(FBN1):c.5980_5981delinsTT (p.Gly1994Leu)
|
rs1597531779
|
|
NM_000138.5(FBN1):c.5981G>A (p.Gly1994Glu)
|
rs1484900122
|
|
NM_000138.5(FBN1):c.5981G>C (p.Gly1994Ala)
|
rs1484900122
|
|
NM_000138.5(FBN1):c.5981G>T (p.Gly1994Val)
|
rs1484900122
|
|
NM_000138.5(FBN1):c.5983T>C (p.Ser1995Pro)
|
rs1555395649
|
|
NM_000138.5(FBN1):c.5986T>C (p.Tyr1996His)
|
|
|
NM_000138.5(FBN1):c.5989A>C (p.Arg1997=)
|
|
|
NM_000138.5(FBN1):c.5992T>A (p.Cys1998Ser)
|
rs2141248056
|
|
NM_000138.5(FBN1):c.5993G>A (p.Cys1998Tyr)
|
rs1085307531
|
|
NM_000138.5(FBN1):c.5993G>T (p.Cys1998Phe)
|
rs1085307531
|
|
NM_000138.5(FBN1):c.5994C>G (p.Cys1998Trp)
|
rs1555395648
|
|
NM_000138.5(FBN1):c.5994C>T (p.Cys1998=)
|
rs1555395648
|
|
NM_000138.5(FBN1):c.5995A>G (p.Ile1999Val)
|
rs183690919
|
|
NM_000138.5(FBN1):c.5998del (p.Cys2000fs)
|
rs1367820520
|
|
NM_000138.5(FBN1):c.5999G>A (p.Cys2000Tyr)
|
rs1555395645
|
|
NM_000138.5(FBN1):c.6004C>T (p.Pro2002Ser)
|
rs1057519320
|
|
NM_000138.5(FBN1):c.6005C>T (p.Pro2002Leu)
|
rs1566898093
|
|
NM_000138.5(FBN1):c.6006_6012dup (p.Ser2005fs)
|
rs193922220
|
|
NM_000138.5(FBN1):c.600C>T (p.Ser200=)
|
|
|
NM_000138.5(FBN1):c.6012_6013del (p.Tyr2004_Ser2005delinsTer)
|
|
|
NM_000138.5(FBN1):c.6015T>C (p.Ser2005=)
|
|
|
NM_000138.5(FBN1):c.6019C>T (p.Gln2007Ter)
|
rs1555395641
|
|
NM_000138.5(FBN1):c.6023del (p.Asn2008fs)
|
rs1555395640
|
|
NM_000138.5(FBN1):c.6029del (p.Lys2010fs)
|
rs2141248004
|
|
NM_000138.5(FBN1):c.6030del (p.Lys2010fs)
|
|
|
NM_000138.5(FBN1):c.6031T>C (p.Cys2011Arg)
|
rs2141248001
|
|
NM_000138.5(FBN1):c.6032G>A (p.Cys2011Tyr)
|
rs886038967
|
|
NM_000138.5(FBN1):c.6034G>T (p.Glu2012Ter)
|
rs2141247988
|
|
NM_000138.5(FBN1):c.6036A>G (p.Glu2012=)
|
rs1597531690
|
|
NM_000138.5(FBN1):c.6037+10C>T
|
rs2141247970
|
|
NM_000138.5(FBN1):c.6037+11_6037+12delinsCT
|
|
|
NM_000138.5(FBN1):c.6037+16G>A
|
|
|
NM_000138.5(FBN1):c.6037+17T>C
|
|
|
NM_000138.5(FBN1):c.6037+2T>C
|
rs2043139226
|
|
NM_000138.5(FBN1):c.6037+9G>A
|
|
|
NM_000138.5(FBN1):c.6037G>C (p.Asp2013His)
|
rs1555395638
|
|
NM_000138.5(FBN1):c.6038-13G>T
|
rs536742402
|
|
NM_000138.5(FBN1):c.6038-14T>C
|
rs369107058
|
|
NM_000138.5(FBN1):c.6038-16C>T
|
|
|
NM_000138.5(FBN1):c.6038-1G>A
|
rs1555395489
|
|
NM_000138.5(FBN1):c.6038-23_6038-20del
|
|
|
NM_000138.5(FBN1):c.6038-3T>C
|
rs2043117848
|
|
NM_000138.5(FBN1):c.6038A>G (p.Asp2013Gly)
|
|
|
NM_000138.5(FBN1):c.6038A>T (p.Asp2013Val)
|
rs869025410
|
|
NM_000138.5(FBN1):c.6038_6040dup (p.Asp2013_Ile2014insAsn)
|
rs1597529929
|
|
NM_000138.5(FBN1):c.603del (p.Ile202fs)
|
rs2141358361
|
|
NM_000138.5(FBN1):c.6046G>A (p.Glu2016Lys)
|
rs2141245531
|
|
NM_000138.5(FBN1):c.6048G>A (p.Glu2016=)
|
rs991367684
|
|
NM_000138.5(FBN1):c.6048_6056del (p.Cys2017_Glu2019del)
|
rs1555395483
|
|
NM_000138.5(FBN1):c.6049T>C (p.Cys2017Arg)
|
rs1555395486
|
|
NM_000138.5(FBN1):c.6050G>A (p.Cys2017Tyr)
|
rs2141245523
|
|
NM_000138.5(FBN1):c.6051T>G (p.Cys2017Trp)
|
rs1566897420
|
|
NM_000138.5(FBN1):c.6052_6053del (p.Val2018fs)
|
rs2043117611
|
|
NM_000138.5(FBN1):c.6059_6080del (p.Glu2020fs)
|
|
|
NM_000138.5(FBN1):c.6060G>A (p.Glu2020=)
|
rs1597529860
|
|
NM_000138.5(FBN1):c.6064G>T (p.Glu2022Ter)
|
rs1555395482
|
|
NM_000138.5(FBN1):c.6067del (p.Ile2023fs)
|
rs1597529841
|
|
NM_000138.5(FBN1):c.6068_6069insCCCTT (p.Cys2024fs)
|
rs2141245482
|
|
NM_000138.5(FBN1):c.6070dup (p.Cys2024fs)
|
rs1597529829
|
|
NM_000138.5(FBN1):c.6071G>A (p.Cys2024Tyr)
|
rs1597529826
|
|
NM_000138.5(FBN1):c.6071G>T (p.Cys2024Phe)
|
rs1597529826
|
|
NM_000138.5(FBN1):c.6073G>A (p.Ala2025Thr)
|
|
|
NM_000138.5(FBN1):c.6075C>G (p.Ala2025=)
|
rs1597529820
|
|
NM_000138.5(FBN1):c.6079G>T (p.Gly2027Cys)
|
rs1566897404
|
|
NM_000138.5(FBN1):c.6080del (p.Gly2027fs)
|
rs1555395480
|
|
NM_000138.5(FBN1):c.6082A>C (p.Thr2028Pro)
|
|
|
NM_000138.5(FBN1):c.6084A>G (p.Thr2028=)
|
rs1597529803
|
|
NM_000138.5(FBN1):c.6086G>A (p.Cys2029Tyr)
|
rs1057517855
|
|
NM_000138.5(FBN1):c.6087C>A (p.Cys2029Ter)
|
rs1555395475
|
|
NM_000138.5(FBN1):c.6087C>G (p.Cys2029Trp)
|
rs1555395475
|
|
NM_000138.5(FBN1):c.6090dup (p.Asn2031Ter)
|
rs1597529775
|
|
NM_000138.5(FBN1):c.609_630del (p.Cys204fs)
|
|
|
NM_000138.5(FBN1):c.6111A>G (p.Lys2037=)
|
|
|
NM_000138.5(FBN1):c.6113G>C (p.Cys2038Ser)
|
rs363804
|
|
NM_000138.5(FBN1):c.6113del (p.Cys2038fs)
|
rs2141245408
|
|
NM_000138.5(FBN1):c.6118T>C (p.Cys2040Arg)
|
rs1597529748
|
|
NM_000138.5(FBN1):c.6119G>A (p.Cys2040Tyr)
|
rs397515830
|
|
NM_000138.5(FBN1):c.6120T>C (p.Cys2040=)
|
rs193922221
|
|
NM_000138.5(FBN1):c.6120T>G (p.Cys2040Trp)
|
|
|
NM_000138.5(FBN1):c.6121_6130del (p.Pro2041fs)
|
rs2043116708
|
|
NM_000138.5(FBN1):c.6122C>T (p.Pro2041Leu)
|
|
|
NM_000138.5(FBN1):c.6123A>G (p.Pro2041=)
|
|
|
NM_000138.5(FBN1):c.6126del (p.Ser2045fs)
|
|
|
NM_000138.5(FBN1):c.6129G>T (p.Gly2043=)
|
|
|
NM_000138.5(FBN1):c.6130T>G (p.Phe2044Val)
|
rs2043116688
|
|
NM_000138.5(FBN1):c.6139del (p.Ser2047fs)
|
rs2043116624
|
|
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.6144C>T (p.Ser2048=)
|
|
|
NM_000138.5(FBN1):c.6145del (p.Ser2049fs)
|
|
|
NM_000138.5(FBN1):c.6149del (p.Gly2050fs)
|
rs1597529686
|
|
NM_000138.5(FBN1):c.6151A>T (p.Arg2051Ter)
|
|
|
NM_000138.5(FBN1):c.6151dup (p.Arg2051fs)
|
|
|
NM_000138.5(FBN1):c.6157T>A (p.Cys2053Ser)
|
|
|
NM_000138.5(FBN1):c.6158G>A (p.Cys2053Tyr)
|
rs363805
|
|
NM_000138.5(FBN1):c.6159C>A (p.Cys2053Ter)
|
rs1060501095
|
|
NM_000138.5(FBN1):c.6160C>T (p.Gln2054Ter)
|
rs1555395456
|
|
NM_000138.5(FBN1):c.6161A>G (p.Gln2054Arg)
|
rs2043116342
|
|
NM_000138.5(FBN1):c.6162A>G (p.Gln2054=)
|
|
|
NM_000138.5(FBN1):c.6163+17G>C
|
|
|
NM_000138.5(FBN1):c.6163+1G>A
|
rs1566897374
|
|
NM_000138.5(FBN1):c.6163+1_6163+2del
|
|
|
NM_000138.5(FBN1):c.6163+8T>G
|
|
|
NM_000138.5(FBN1):c.6164-1G>A
|
rs1060501048
|
|
NM_000138.5(FBN1):c.6164-1G>C
|
rs1060501048
|
|
NM_000138.5(FBN1):c.6164-1G>T
|
|
|
NM_000138.5(FBN1):c.6164-2A>G
|
rs794728244
|
|
NM_000138.5(FBN1):c.6164-3_6164-1del
|
rs2043085905
|
|
NM_000138.5(FBN1):c.6164-5T>C
|
rs2043085940
|
|
NM_000138.5(FBN1):c.6169C>T (p.Arg2057Ter)
|
rs763091520
|
|
NM_000138.5(FBN1):c.616A>T (p.Lys206Ter)
|
rs2044026093
|
|
NM_000138.5(FBN1):c.6170G>T (p.Arg2057Leu)
|
|
|
NM_000138.5(FBN1):c.6180C>A (p.Tyr2060Ter)
|
|
|
NM_000138.5(FBN1):c.6180C>G (p.Tyr2060Ter)
|
rs974604498
|
|
NM_000138.5(FBN1):c.6181T>C (p.Cys2061Arg)
|
rs1555395267
|
|
NM_000138.5(FBN1):c.6183T>A (p.Cys2061Ter)
|
rs71467648
|
|
NM_000138.5(FBN1):c.6185A>C (p.Tyr2062Ser)
|
rs1555395266
|
|
NM_000138.5(FBN1):c.6188C>T (p.Ala2063Val)
|
|
|
NM_000138.5(FBN1):c.6199G>T (p.Gly2067Ter)
|
rs1342803259
|
|
NM_000138.5(FBN1):c.619dup (p.Thr207fs)
|
rs1555401689
|
|
NM_000138.5(FBN1):c.6207G>A (p.Lys2069=)
|
rs1021415072
|
|
NM_000138.5(FBN1):c.6208T>C (p.Cys2070Arg)
|
|
|
NM_000138.5(FBN1):c.6209G>A (p.Cys2070Tyr)
|
rs1060501044
|
|
NM_000138.5(FBN1):c.6209G>T (p.Cys2070Phe)
|
rs1060501044
|
|
NM_000138.5(FBN1):c.6215C>A (p.Ser2072Ter)
|
rs2043085394
|
|
NM_000138.5(FBN1):c.6219C>T (p.Pro2073=)
|
rs771786623
|
|
NM_000138.5(FBN1):c.621G>A (p.Thr207=)
|
rs765173237
|
|
NM_000138.5(FBN1):c.621del (p.Leu208fs)
|
rs2141358303
|
|
NM_000138.5(FBN1):c.6235T>C (p.Ser2079Pro)
|
|
|
NM_000138.5(FBN1):c.6236C>G (p.Ser2079Cys)
|
rs1555395263
|
|
NM_000138.5(FBN1):c.623T>A (p.Leu208His)
|
rs2044025908
|
|
NM_000138.5(FBN1):c.6243G>A (p.Gln2081=)
|
|
|
NM_000138.5(FBN1):c.6244G>T (p.Glu2082Ter)
|
rs1052480459
|
|
NM_000138.5(FBN1):c.6249_6254del (p.Cys2084_Cys2085del)
|
rs2141241487
|
|
NM_000138.5(FBN1):c.6250T>A (p.Cys2084Ser)
|
rs2141241499
|
|
NM_000138.5(FBN1):c.6250_6253dup (p.Cys2085fs)
|
|
|
NM_000138.5(FBN1):c.6251G>A (p.Cys2084Tyr)
|
rs794728245
|
|
NM_000138.5(FBN1):c.6253T>G (p.Cys2085Gly)
|
rs2141241496
|
|
NM_000138.5(FBN1):c.6254G>A (p.Cys2085Tyr)
|
rs1555395261
|
|
NM_000138.5(FBN1):c.6254G>C (p.Cys2085Ser)
|
rs1555395261
|
|
NM_000138.5(FBN1):c.6264G>C (p.Lys2088Asn)
|
rs886051247
|
|
NM_000138.5(FBN1):c.6266del (p.Gly2089fs)
|
rs1597526729
|
|
NM_000138.5(FBN1):c.626G>C (p.Cys209Ser)
|
rs1555401687
|
|
NM_000138.5(FBN1):c.626G>T (p.Cys209Phe)
|
rs1555401687
|
|
NM_000138.5(FBN1):c.6272G>A (p.Gly2091Asp)
|
rs878853687
|
|
NM_000138.5(FBN1):c.6274T>C (p.Trp2092Arg)
|
rs794728246
|
|
NM_000138.5(FBN1):c.6276G>A (p.Trp2092Ter)
|
rs1555395260
|
|
NM_000138.5(FBN1):c.6277G>C (p.Gly2093Arg)
|
rs1064793117
|
|
NM_000138.5(FBN1):c.6282C>A (p.Asp2094Glu)
|
|
|
NM_000138.5(FBN1):c.6285del (p.Cys2096fs)
|
rs2141241437
|
|
NM_000138.5(FBN1):c.6285dup (p.Cys2096fs)
|
|
|
NM_000138.5(FBN1):c.6289G>T (p.Glu2097Ter)
|
rs397515831
|
|
NM_000138.5(FBN1):c.6296G>A (p.Cys2099Tyr)
|
rs1131691803
|
|
NM_000138.5(FBN1):c.6297C>G (p.Cys2099Trp)
|
|
|
NM_000138.5(FBN1):c.629G>A (p.Cys210Tyr)
|
rs1085307468
|
|
NM_000138.5(FBN1):c.6303G>A (p.Thr2101=)
|
rs2043084739
|
|
NM_000138.5(FBN1):c.6308C>T (p.Pro2103Leu)
|
|
|
NM_000138.5(FBN1):c.6309dup (p.Asp2104Ter)
|
rs2141241409
|
|
NM_000138.5(FBN1):c.6313+1G>A
|
rs2141241397
|
|
NM_000138.5(FBN1):c.6313+20T>C
|
|
|
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.6313+5G>C
|
rs878853688
|
|
NM_000138.5(FBN1):c.6313+9G>A
|
|
|
NM_000138.5(FBN1):c.6313G>A (p.Glu2105Lys)
|
rs794728247
|
|
NM_000138.5(FBN1):c.6313G>T (p.Glu2105Ter)
|
rs794728247
|
|
NM_000138.5(FBN1):c.6313_6313+1delinsAC
|
|
|
NM_000138.5(FBN1):c.6314-14T>A
|
|
|
NM_000138.5(FBN1):c.6314-14T>G
|
|
|
NM_000138.5(FBN1):c.6314-2A>C
|
rs2141240964
|
|
NM_000138.5(FBN1):c.6314-3del
|
rs2141240967
|
|
NM_000138.5(FBN1):c.6314-6C>G
|
|
|
NM_000138.5(FBN1):c.6314-6C>T
|
rs2141240971
|
|
NM_000138.5(FBN1):c.6314-7_6322del
|
rs2141240946
|
|
NM_000138.5(FBN1):c.6314A>T (p.Glu2105Val)
|
rs1165109120
|
|
NM_000138.5(FBN1):c.6320T>G (p.Phe2107Cys)
|
rs1555395230
|
|
NM_000138.5(FBN1):c.6320dup (p.Arg2108fs)
|
rs2043081795
|
|
NM_000138.5(FBN1):c.6322C>T (p.Arg2108Cys)
|
rs1246984265
|
|
NM_000138.5(FBN1):c.6322del (p.Arg2108fs)
|
rs2141240943
|
|
NM_000138.5(FBN1):c.6325C>T (p.Gln2109Ter)
|
rs1555395229
|
|
NM_000138.5(FBN1):c.6327del (p.Ile2110fs)
|
rs1555395228
|
|
NM_000138.5(FBN1):c.6331T>C (p.Cys2111Arg)
|
rs363815
|
|
NM_000138.5(FBN1):c.6331T>G (p.Cys2111Gly)
|
rs363815
|
|
NM_000138.5(FBN1):c.6332G>A (p.Cys2111Tyr)
|
rs1131691467
|
|
NM_000138.5(FBN1):c.6335C>G (p.Pro2112Arg)
|
|
|
NM_000138.5(FBN1):c.6336T>G (p.Pro2112=)
|
rs772876451
|
|
NM_000138.5(FBN1):c.6337T>C (p.Tyr2113His)
|
|
|
NM_000138.5(FBN1):c.6338dup (p.Tyr2113Ter)
|
rs2141240902
|
|
NM_000138.5(FBN1):c.6339T>G (p.Tyr2113Ter)
|
rs267606797
|
|
NM_000138.5(FBN1):c.6340G>T (p.Gly2114Ter)
|
|
|
NM_000138.5(FBN1):c.6347G>C (p.Gly2116Ala)
|
rs1555395226
|
|
NM_000138.5(FBN1):c.6348G>A (p.Gly2116=)
|
|
|
NM_000138.5(FBN1):c.6349A>G (p.Ile2117Val)
|
rs572754741
|
|
NM_000138.5(FBN1):c.634A>C (p.Thr212Pro)
|
rs1597593736
|
|
NM_000138.5(FBN1):c.6350T>A (p.Ile2117Asn)
|
rs769196373
|
|
NM_000138.5(FBN1):c.6354C>G (p.Ile2118Met)
|
rs112989722
|
|
NM_000138.5(FBN1):c.6355G>A (p.Val2119Met)
|
rs876660976
|
|
NM_000138.5(FBN1):c.6357G>C (p.Val2119=)
|
rs886051246
|
|
NM_000138.5(FBN1):c.6359G>T (p.Gly2120Val)
|
rs1310047239
|
|
NM_000138.5(FBN1):c.635_636del (p.Thr212fs)
|
rs1566922422
|
|
NM_000138.5(FBN1):c.6365A>G (p.Asp2122Gly)
|
|
|
NM_000138.5(FBN1):c.636A>C (p.Thr212=)
|
|
|
NM_000138.5(FBN1):c.6371C>G (p.Ser2124Ter)
|
rs1190410675
|
|
NM_000138.5(FBN1):c.6373_6379+1dup
|
|
|
NM_000138.5(FBN1):c.6375A>C (p.Ala2125=)
|
rs2141240830
|
|
NM_000138.5(FBN1):c.6375A>G (p.Ala2125=)
|
rs2141240830
|
|
NM_000138.5(FBN1):c.6379+11T>A
|
|
|
NM_000138.5(FBN1):c.6379+16T>G
|
|
|
NM_000138.5(FBN1):c.6379+17G>T
|
|
|
NM_000138.5(FBN1):c.6379+1G>A
|
rs397515833
|
|
NM_000138.5(FBN1):c.6379+2T>C
|
rs113453570
|
|
NM_000138.5(FBN1):c.6379+2T>G
|
rs113453570
|
|
NM_000138.5(FBN1):c.6379+3C>G
|
rs2043081154
|
|
NM_000138.5(FBN1):c.6379+5G>A
|
rs1085307875
|
|
NM_000138.5(FBN1):c.6379+9C>T
|
rs1555395223
|
|
NM_000138.5(FBN1):c.6379G>A (p.Asp2127Asn)
|
rs1555395225
|
|
NM_000138.5(FBN1):c.6379G>C (p.Asp2127His)
|
|
|
NM_000138.5(FBN1):c.6380-13del
|
rs768078387
|
|
NM_000138.5(FBN1):c.6380-1G>T
|
rs1597526073
|
|
NM_000138.5(FBN1):c.6380-20T>C
|
|
|
NM_000138.5(FBN1):c.6380-20dup
|
rs768078387
|
|
NM_000138.5(FBN1):c.6380-2A>C
|
rs886041482
|
|
NM_000138.5(FBN1):c.6380-2A>G
|
rs886041482
|
|
NM_000138.5(FBN1):c.6380-83del
|
rs193922222
|
|
NM_000138.5(FBN1):c.6380A>C (p.Asp2127Ala)
|
rs2141240523
|
|
NM_000138.5(FBN1):c.6380A>G (p.Asp2127Gly)
|
rs2141240523
|
|
NM_000138.5(FBN1):c.6380A>T (p.Asp2127Val)
|
rs2141240523
|
|
NM_000138.5(FBN1):c.6383T>C (p.Met2128Thr)
|
rs2141240519
|
|
NM_000138.5(FBN1):c.6385G>T (p.Asp2129Tyr)
|
rs193922223
|
|
NM_000138.5(FBN1):c.6386A>G (p.Asp2129Gly)
|
rs1566896114
|
|
NM_000138.5(FBN1):c.6386A>T (p.Asp2129Val)
|
rs1566896114
|
|
NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys)
|
rs794728334
|
|
NM_000138.5(FBN1):c.6388G>T (p.Glu2130Ter)
|
rs794728334
|
|
NM_000138.5(FBN1):c.6391T>A (p.Cys2131Ser)
|
rs1555395210
|
|
NM_000138.5(FBN1):c.6391T>C (p.Cys2131Arg)
|
rs1555395210
|
|
NM_000138.5(FBN1):c.6392del (p.Cys2131fs)
|
rs2141240489
|
|
NM_000138.5(FBN1):c.6393C>G (p.Cys2131Trp)
|
rs61730051
|
|
NM_000138.5(FBN1):c.6394A>G (p.Lys2132Glu)
|
|
|
NM_000138.5(FBN1):c.6397_6399del (p.Glu2133del)
|
rs1060501037
|
|
NM_000138.5(FBN1):c.63G>A (p.Thr21=)
|
rs2140787726
|
|
NM_000138.5(FBN1):c.63G>C (p.Thr21=)
|
|
|
NM_000138.5(FBN1):c.6401C>T (p.Pro2134Leu)
|
rs1566896102
|
|
NM_000138.5(FBN1):c.6403G>C (p.Asp2135His)
|
rs746167150
|
|
NM_000138.5(FBN1):c.6404A>T (p.Asp2135Val)
|
|
|
NM_000138.5(FBN1):c.6409T>G (p.Cys2137Gly)
|
rs2141240456
|
|
NM_000138.5(FBN1):c.640G>A (p.Gly214Ser)
|
rs794728162
|
|
NM_000138.5(FBN1):c.6410G>A (p.Cys2137Tyr)
|
rs1555395206
|
|
NM_000138.5(FBN1):c.6412_6441del (p.Lys2138_Gly2147del)
|
rs1566896070
|
|
NM_000138.5(FBN1):c.6414del (p.Lys2138fs)
|
rs1555395205
|
|
NM_000138.5(FBN1):c.6416del (p.His2139fs)
|
|
|
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.6422A>T (p.Gln2141Leu)
|
|
|
NM_000138.5(FBN1):c.6423del (p.Gln2141fs)
|
rs2141240428
|
|
NM_000138.5(FBN1):c.6424T>A (p.Cys2142Ser)
|
rs1555395203
|
|
NM_000138.5(FBN1):c.6424T>C (p.Cys2142Arg)
|
rs1555395203
|
|
NM_000138.5(FBN1):c.6424T>G (p.Cys2142Gly)
|
|
|
NM_000138.5(FBN1):c.6425G>A (p.Cys2142Tyr)
|
rs794728335
|
|
NM_000138.5(FBN1):c.6430A>C (p.Asn2144His)
|
rs886038943
|
|
NM_000138.5(FBN1):c.6431A>G (p.Asn2144Ser)
|
rs137854461
|
|
NM_000138.5(FBN1):c.6434C>T (p.Thr2145Ile)
|
rs2043078019
|
|
NM_000138.5(FBN1):c.643C>T (p.Arg215Ter)
|
rs111687884
|
|
NM_000138.5(FBN1):c.6440G>A (p.Gly2147Asp)
|
rs1597525958
|
|
NM_000138.5(FBN1):c.6440dup (p.Ser2148fs)
|
rs2141240388
|
|
NM_000138.5(FBN1):c.6446A>G (p.Tyr2149Cys)
|
rs113080385
|
|
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.6451T>C (p.Cys2151Arg)
|
|
|
NM_000138.5(FBN1):c.6452G>A (p.Cys2151Tyr)
|
rs112464743
|
|
NM_000138.5(FBN1):c.6453C>T (p.Cys2151=)
|
rs794728251
|
|
NM_000138.5(FBN1):c.645A>T (p.Arg215=)
|
rs200062771
|
|
NM_000138.5(FBN1):c.6460C>T (p.Pro2154Ser)
|
rs2043077718
|
|
NM_000138.5(FBN1):c.6471T>A (p.Tyr2157Ter)
|
rs1060501034
|
|
NM_000138.5(FBN1):c.6483_6496+1del
|
rs2141240279
|
|
NM_000138.5(FBN1):c.6487G>T (p.Glu2163Ter)
|
rs1555395191
|
|
NM_000138.5(FBN1):c.6490T>G (p.Cys2164Gly)
|
rs2141240296
|
|
NM_000138.5(FBN1):c.6491G>A (p.Cys2164Tyr)
|
rs1555395189
|
|
NM_000138.5(FBN1):c.6496+10A>C
|
|
|
NM_000138.5(FBN1):c.6496+12G>A
|
rs899879407
|
|
NM_000138.5(FBN1):c.6496+1G>A
|
rs1555395188
|
|
NM_000138.5(FBN1):c.6496+1G>T
|
rs1555395188
|
|
NM_000138.5(FBN1):c.6496+1del
|
rs1597525871
|
|
NM_000138.5(FBN1):c.6496+2T>G
|
rs1555395187
|
|
NM_000138.5(FBN1):c.6496+5G>C
|
rs1555395186
|
|
NM_000138.5(FBN1):c.6496G>A (p.Asp2166Asn)
|
rs794728252
|
|
NM_000138.5(FBN1):c.6497-13T>C
|
|
|
NM_000138.5(FBN1):c.6497-14_6497-12del
|
|
|
NM_000138.5(FBN1):c.6497-15C>T
|
rs569535886
|
|
NM_000138.5(FBN1):c.6497-16_6497-15delinsCA
|
|
|
NM_000138.5(FBN1):c.6497-19C>T
|
|
|
NM_000138.5(FBN1):c.6497-1G>A
|
|
|
NM_000138.5(FBN1):c.6497-3C>G
|
rs2141237196
|
|
NM_000138.5(FBN1):c.6497-4G>A
|
|
|
NM_000138.5(FBN1):c.6497-9T>A
|
|
|
NM_000138.5(FBN1):c.6497A>G (p.Asp2166Gly)
|
|
|
NM_000138.5(FBN1):c.649T>G (p.Trp217Gly)
|
rs193922224
|
|
NM_000138.5(FBN1):c.6500_6501insCTGGTTTCT (p.Thr2167_Asp2168insTrpPheLeu)
|
|
|
NM_000138.5(FBN1):c.6501T>C (p.Thr2167=)
|
rs2141237184
|
|
NM_000138.5(FBN1):c.6503A>G (p.Asp2168Gly)
|
rs1555395015
|
|
NM_000138.5(FBN1):c.6505G>A (p.Glu2169Lys)
|
|
|
NM_000138.5(FBN1):c.6505G>T (p.Glu2169Ter)
|
|
|
NM_000138.5(FBN1):c.6508T>C (p.Cys2170Arg)
|
rs1597523873
|
|
NM_000138.5(FBN1):c.6509G>A (p.Cys2170Tyr)
|
rs363821
|
|
NM_000138.5(FBN1):c.6512C>T (p.Ser2171Phe)
|
rs1413266501
|
|
NM_000138.5(FBN1):c.6514G>A (p.Val2172Ile)
|
rs1243025749
|
|
NM_000138.5(FBN1):c.6514G>T (p.Val2172Phe)
|
|
|
NM_000138.5(FBN1):c.6515_6516delinsG (p.Val2172fs)
|
rs397515834
|
|
NM_000138.5(FBN1):c.651G>A (p.Trp217Ter)
|
|
|
NM_000138.5(FBN1):c.6523C>A (p.Pro2175Thr)
|
rs2043051465
|
|
NM_000138.5(FBN1):c.6524C>T (p.Pro2175Leu)
|
rs2141237135
|
|
NM_000138.5(FBN1):c.6524del (p.Pro2175fs)
|
rs1555395013
|
|
NM_000138.5(FBN1):c.6527G>A (p.Cys2176Tyr)
|
|
|
NM_000138.5(FBN1):c.6528T>A (p.Cys2176Ter)
|
|
|
NM_000138.5(FBN1):c.6528T>G (p.Cys2176Trp)
|
rs2141237128
|
|
NM_000138.5(FBN1):c.6533A>G (p.Asn2178Ser)
|
rs2141237126
|
|
NM_000138.5(FBN1):c.653del (p.Gly218fs)
|
|
|
NM_000138.5(FBN1):c.653dup (p.His219fs)
|
|
|
NM_000138.5(FBN1):c.6541del (p.Cys2181fs)
|
rs1060501059
|
|
NM_000138.5(FBN1):c.6549T>A (p.Asn2183Lys)
|
rs752192006
|
|
NM_000138.5(FBN1):c.6549T>C (p.Asn2183=)
|
|
|
NM_000138.5(FBN1):c.6549T>G (p.Asn2183Lys)
|
rs752192006
|
|
NM_000138.5(FBN1):c.654C>T (p.Gly218=)
|
|
|
NM_000138.5(FBN1):c.6550_6553del (p.Val2184fs)
|
rs2141237105
|
|
NM_000138.5(FBN1):c.6553_6556dup (p.Gly2186fs)
|
rs193922225
|
|
NM_000138.5(FBN1):c.6554T>C (p.Ile2185Thr)
|
rs910656654
|
|
NM_000138.5(FBN1):c.6554T>G (p.Ile2185Ser)
|
rs910656654
|
|
NM_000138.5(FBN1):c.6563T>G (p.Phe2188Cys)
|
|
|
NM_000138.5(FBN1):c.6564_6565insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCGATTGGAGGTTTT (p.Glu2189delinsPhePhePhePhePhePheXaaXaaXaaXaaValSerProPheTer)
|
|
|
NM_000138.5(FBN1):c.6568T>A (p.Cys2190Ser)
|
rs1566895263
|
|
NM_000138.5(FBN1):c.6568T>C (p.Cys2190Arg)
|
|
|
NM_000138.5(FBN1):c.6568T>G (p.Cys2190Gly)
|
|
|
NM_000138.5(FBN1):c.6569G>A (p.Cys2190Tyr)
|
|
|
NM_000138.5(FBN1):c.6569G>T (p.Cys2190Phe)
|
rs1566895262
|
|
NM_000138.5(FBN1):c.6575G>A (p.Cys2192Tyr)
|
rs2043050838
|
|
NM_000138.5(FBN1):c.6576C>A (p.Cys2192Ter)
|
|
|
NM_000138.5(FBN1):c.6576C>G (p.Cys2192Trp)
|
rs369058466
|
|
NM_000138.5(FBN1):c.657C>A (p.His219Gln)
|
|
|
NM_000138.5(FBN1):c.6582G>A (p.Glu2194=)
|
|
|
NM_000138.5(FBN1):c.6582G>T (p.Glu2194Asp)
|
rs2043050683
|
|
NM_000138.5(FBN1):c.6583G>A (p.Gly2195Arg)
|
rs886038976
|
|
NM_000138.5(FBN1):c.6583G>T (p.Gly2195Ter)
|
rs886038976
|
|
NM_000138.5(FBN1):c.6584G>T (p.Gly2195Val)
|
rs1597523768
|
|
NM_000138.5(FBN1):c.6586T>G (p.Phe2196Val)
|
rs2043050574
|
|
NM_000138.5(FBN1):c.658C>T (p.Pro220Ser)
|
|
|
NM_000138.5(FBN1):c.6590A>C (p.Glu2197Ala)
|
rs763165301
|
|
NM_000138.5(FBN1):c.6591G>A (p.Glu2197=)
|
|
|
NM_000138.5(FBN1):c.6591G>T (p.Glu2197Asp)
|
rs2141237031
|
|
NM_000138.5(FBN1):c.6600A>G (p.Pro2200=)
|
|
|
NM_000138.5(FBN1):c.6601A>C (p.Met2201Leu)
|
rs776823384
|
|
NM_000138.5(FBN1):c.6605T>A (p.Met2202Lys)
|
rs2043050244
|
|
NM_000138.5(FBN1):c.6605T>C (p.Met2202Thr)
|
|
|
NM_000138.5(FBN1):c.6609_6610del (p.Thr2203_Cys2204insTer)
|
rs1555395002
|
|
NM_000138.5(FBN1):c.660_661del (p.Pro220_Cys221insTer)
|
rs1555401679
|
|
NM_000138.5(FBN1):c.660del (p.Cys221fs)
|
rs727505269
|
|
NM_000138.5(FBN1):c.660dup (p.Cys221fs)
|
|
|
NM_000138.5(FBN1):c.6610T>C (p.Cys2204Arg)
|
rs1555395001
|
|
NM_000138.5(FBN1):c.6611G>C (p.Cys2204Ser)
|
|
|
NM_000138.5(FBN1):c.6611G>T (p.Cys2204Phe)
|
rs886039158
|
|
NM_000138.5(FBN1):c.6613dup (p.Glu2205fs)
|
rs1566895225
|
|
NM_000138.5(FBN1):c.6615A>G (p.Glu2205=)
|
|
|
NM_000138.5(FBN1):c.6616+17G>C
|
|
|
NM_000138.5(FBN1):c.6616+1G>A
|
rs1064793980
|
|
NM_000138.5(FBN1):c.6616+1G>C
|
rs1064793980
|
|
NM_000138.5(FBN1):c.6616+1G>T
|
rs1064793980
|
|
NM_000138.5(FBN1):c.6616+2T>C
|
rs2141236949
|
|
NM_000138.5(FBN1):c.6616+4C>T
|
|
|
NM_000138.5(FBN1):c.6616+7C>G
|
rs778659143
|
|
NM_000138.5(FBN1):c.6616G>A (p.Asp2206Asn)
|
rs1555394999
|
|
NM_000138.5(FBN1):c.6617-11_6617-9del
|
rs2141235287
|
|
NM_000138.5(FBN1):c.6617-12C>T
|
|
|
NM_000138.5(FBN1):c.6617-12_6630del
|
|
|
NM_000138.5(FBN1):c.6617-17A>T
|
|
|
NM_000138.5(FBN1):c.6617-1G>C
|
rs2141235271
|
|
NM_000138.5(FBN1):c.6617-1G>T
|
|
|
NM_000138.5(FBN1):c.6617-2A>C
|
rs1597522588
|
|
NM_000138.5(FBN1):c.6617-2A>G
|
|
|
NM_000138.5(FBN1):c.6617-7G>C
|
|
|
NM_000138.5(FBN1):c.6617-9_6617-8inv
|
|
|
NM_000138.5(FBN1):c.6617A>G (p.Asp2206Gly)
|
rs1597522584
|
|
NM_000138.5(FBN1):c.6617A>T (p.Asp2206Val)
|
rs1597522584
|
|
NM_000138.5(FBN1):c.661del (p.Cys221fs)
|
rs1597593695
|
|
NM_000138.5(FBN1):c.6623_6627del (p.Asn2208fs)
|
rs1597522572
|
|
NM_000138.5(FBN1):c.6623dup (p.Asn2208fs)
|
|
|
NM_000138.5(FBN1):c.6625del (p.Glu2209fs)
|
rs2141235258
|
|
NM_000138.5(FBN1):c.6626A>C (p.Glu2209Ala)
|
rs1060501072
|
|
NM_000138.5(FBN1):c.6628T>A (p.Cys2210Ser)
|
rs794728253
|
|
NM_000138.5(FBN1):c.6629G>A (p.Cys2210Tyr)
|
rs2141235242
|
|
NM_000138.5(FBN1):c.6629_6639dup (p.Pro2214fs)
|
|
|
NM_000138.5(FBN1):c.6630T>G (p.Cys2210Trp)
|
rs397515836
|
|
NM_000138.5(FBN1):c.6631G>T (p.Ala2211Ser)
|
rs1407213479
|
|
NM_000138.5(FBN1):c.6634C>T (p.Gln2212Ter)
|
rs1597522553
|
|
NM_000138.5(FBN1):c.6636G>A (p.Gln2212=)
|
rs2141235218
|
|
NM_000138.5(FBN1):c.663_664del (p.Cys221_Glu222delinsTer)
|
rs2044025276
|
|
NM_000138.5(FBN1):c.6640C>G (p.Pro2214Ala)
|
rs1375370990
|
|
NM_000138.5(FBN1):c.6643C>A (p.Leu2215Met)
|
rs921997271
|
|
NM_000138.5(FBN1):c.6643C>T (p.Leu2215=)
|
rs921997271
|
|
NM_000138.5(FBN1):c.6645del (p.Leu2216fs)
|
rs1555394928
|
|
NM_000138.5(FBN1):c.6648C>A (p.Leu2216=)
|
rs755861623
|
|
NM_000138.5(FBN1):c.6648C>G (p.Leu2216=)
|
|
|
NM_000138.5(FBN1):c.6650G>A (p.Cys2217Tyr)
|
rs794728254
|
|
NM_000138.5(FBN1):c.6650G>C (p.Cys2217Ser)
|
|
|
NM_000138.5(FBN1):c.6655T>G (p.Phe2219Val)
|
rs2043035646
|
|
NM_000138.5(FBN1):c.6656T>C (p.Phe2219Ser)
|
rs397515837
|
|
NM_000138.5(FBN1):c.6656dup (p.Arg2220fs)
|
rs1555394925
|
|
NM_000138.5(FBN1):c.6658C>T (p.Arg2220Ter)
|
rs113001196
|
|
NM_000138.5(FBN1):c.6659G>C (p.Arg2220Pro)
|
rs780651466
|
|
NM_000138.5(FBN1):c.6661T>C (p.Cys2221Arg)
|
rs113543334
|
|
NM_000138.5(FBN1):c.6661T>G (p.Cys2221Gly)
|
|
|
NM_000138.5(FBN1):c.6662G>A (p.Cys2221Tyr)
|
rs137854460
|
|
NM_000138.5(FBN1):c.6662G>C (p.Cys2221Ser)
|
rs137854460
|
|
NM_000138.5(FBN1):c.6663T>G (p.Cys2221Trp)
|
rs2141235147
|
|
NM_000138.5(FBN1):c.6664G>C (p.Val2222Leu)
|
rs1555394920
|
|
NM_000138.5(FBN1):c.6667A>C (p.Asn2223His)
|
rs1555394919
|
|
NM_000138.5(FBN1):c.6670_6671del (p.Thr2224fs)
|
rs1597522485
|
|
NM_000138.5(FBN1):c.6670dup (p.Thr2224fs)
|
|
|
NM_000138.5(FBN1):c.6673del (p.Tyr2225fs)
|
rs2141235124
|
|
NM_000138.5(FBN1):c.6675T>G (p.Tyr2225Ter)
|
rs1260533788
|
|
NM_000138.5(FBN1):c.6676G>A (p.Gly2226Arg)
|
rs2141235108
|
|
NM_000138.5(FBN1):c.6677G>A (p.Gly2226Glu)
|
|
|
NM_000138.5(FBN1):c.6677G>T (p.Gly2226Val)
|
|
|
NM_000138.5(FBN1):c.6678_6680del (p.Ser2227del)
|
rs1555394913
|
|
NM_000138.5(FBN1):c.6678del (p.Ser2227fs)
|
rs2141235101
|
|
NM_000138.5(FBN1):c.6679T>C (p.Ser2227Pro)
|
rs1555394915
|
|
NM_000138.5(FBN1):c.6681A>G (p.Ser2227=)
|
|
|
NM_000138.5(FBN1):c.6681A>T (p.Ser2227=)
|
rs363824
|
|
NM_000138.5(FBN1):c.6683A>G (p.Tyr2228Cys)
|
rs1555394908
|
|
NM_000138.5(FBN1):c.6687A>G (p.Glu2229=)
|
|
|
NM_000138.5(FBN1):c.6688T>C (p.Cys2230Arg)
|
rs1555394906
|
|
NM_000138.5(FBN1):c.6689G>A (p.Cys2230Tyr)
|
rs1555394904
|
|
NM_000138.5(FBN1):c.6693del (p.Lys2231fs)
|
rs1555394901
|
|
NM_000138.5(FBN1):c.6694T>A (p.Cys2232Ser)
|
rs869025411
|
|
NM_000138.5(FBN1):c.6694T>C (p.Cys2232Arg)
|
rs869025411
|
|
NM_000138.5(FBN1):c.6694T>G (p.Cys2232Gly)
|
|
|
NM_000138.5(FBN1):c.6695G>A (p.Cys2232Tyr)
|
rs1060501054
|
|
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.6698C>A (p.Pro2233His)
|
rs1566894783
|
|
NM_000138.5(FBN1):c.6698C>T (p.Pro2233Leu)
|
rs1566894783
|
|
NM_000138.5(FBN1):c.6699del (p.Val2234fs)
|
rs1597522415
|
|
NM_000138.5(FBN1):c.669G>A (p.Met223Ile)
|
rs910928261
|
|
NM_000138.5(FBN1):c.6701dup (p.Tyr2236fs)
|
rs1597522390
|
|
NM_000138.5(FBN1):c.6704del (p.Gly2235fs)
|
rs193922226
|
|
NM_000138.5(FBN1):c.6705A>G (p.Gly2235=)
|
|
|
NM_000138.5(FBN1):c.6705del (p.Tyr2236fs)
|
rs1555394900
|
|
NM_000138.5(FBN1):c.6707A>T (p.Tyr2236Phe)
|
rs368439899
|
|
NM_000138.5(FBN1):c.670T>C (p.Cys224Arg)
|
rs1555401676
|
|
NM_000138.5(FBN1):c.670del (p.Cys224fs)
|
|
|
NM_000138.5(FBN1):c.6711G>A (p.Val2237=)
|
|
|
NM_000138.5(FBN1):c.6711G>T (p.Val2237=)
|
rs760867972
|
|
NM_000138.5(FBN1):c.6718G>T (p.Glu2240Ter)
|
|
|
NM_000138.5(FBN1):c.6718_6719del (p.Glu2240fs)
|
rs2043034865
|
|
NM_000138.5(FBN1):c.671G>A (p.Cys224Tyr)
|
rs1566922396
|
|
NM_000138.5(FBN1):c.6721G>C (p.Asp2241His)
|
|
|
NM_000138.5(FBN1):c.6728_6737del (p.Arg2243fs)
|
rs2141234945
|
|
NM_000138.5(FBN1):c.6730A>T (p.Met2244Leu)
|
|
|
NM_000138.5(FBN1):c.6734G>A (p.Cys2245Tyr)
|
rs2043034575
|
|
NM_000138.5(FBN1):c.6735C>A (p.Cys2245Ter)
|
rs2043034543
|
|
NM_000138.5(FBN1):c.6739+11G>A
|
|
|
NM_000138.5(FBN1):c.6739+13G>A
|
|
|
NM_000138.5(FBN1):c.6739+16C>T
|
|
|
NM_000138.5(FBN1):c.6739+1G>A
|
rs869025419
|
|
NM_000138.5(FBN1):c.6739+1G>C
|
rs869025419
|
|
NM_000138.5(FBN1):c.6739+1G>T
|
|
|
NM_000138.5(FBN1):c.6739+2T>A
|
rs730880107
|
|
NM_000138.5(FBN1):c.6739+3G>A
|
|
|
NM_000138.5(FBN1):c.6739+4A>G
|
|
|
NM_000138.5(FBN1):c.673C>G (p.Pro225Ala)
|
rs2044025163
|
|
NM_000138.5(FBN1):c.673C>T (p.Pro225Ser)
|
rs2044025163
|
|
NM_000138.5(FBN1):c.6740-10T>A
|
rs1456822662
|
|
NM_000138.5(FBN1):c.6740-10T>G
|
rs1456822662
|
|
NM_000138.5(FBN1):c.6740-11A>T
|
|
|
NM_000138.5(FBN1):c.6740-13A>C
|
|
|
NM_000138.5(FBN1):c.6740-17T>C
|
|
|
NM_000138.5(FBN1):c.6740-19G>C
|
|
|
NM_000138.5(FBN1):c.6740-1G>C
|
|
|
NM_000138.5(FBN1):c.6740-1G>T
|
rs1555394781
|
|
NM_000138.5(FBN1):c.6740-21_6740-18delinsTTTTGTCATTTTTTGTACATTTTTGTCATTTT
|
|
|
NM_000138.5(FBN1):c.6740-2A>G
|
rs2141232714
|
|
NM_000138.5(FBN1):c.6740-2del
|
rs1555394783
|
|
NM_000138.5(FBN1):c.6740-3C>G
|
rs1566894334
|
|
NM_000138.5(FBN1):c.6740A>G (p.Asp2247Gly)
|
rs1060501032
|
|
NM_000138.5(FBN1):c.6744_6746del (p.Glu2248del)
|
|
|
NM_000138.5(FBN1):c.6746A>G (p.Asp2249Gly)
|
rs397515838
|
|
NM_000138.5(FBN1):c.6748G>A (p.Glu2250Lys)
|
rs1597520789
|
|
NM_000138.5(FBN1):c.6749A>T (p.Glu2250Val)
|
rs2043018196
|
|
NM_000138.5(FBN1):c.6750G>A (p.Glu2250=)
|
rs887646369
|
|
NM_000138.5(FBN1):c.6751T>A (p.Cys2251Ser)
|
rs112836174
|
|
NM_000138.5(FBN1):c.6751T>C (p.Cys2251Arg)
|
rs112836174
|
|
NM_000138.5(FBN1):c.6751del (p.Cys2251fs)
|
rs1597520781
|
|
NM_000138.5(FBN1):c.6752G>A (p.Cys2251Tyr)
|
rs794728256
|
|
NM_000138.5(FBN1):c.6752G>T (p.Cys2251Phe)
|
rs794728256
|
|
NM_000138.5(FBN1):c.6753T>G (p.Cys2251Trp)
|
|
|
NM_000138.5(FBN1):c.6757G>A (p.Glu2253Lys)
|
rs1245476075
|
|
NM_000138.5(FBN1):c.6757G>T (p.Glu2253Ter)
|
rs1245476075
|
|
NM_000138.5(FBN1):c.6761del (p.Gly2254fs)
|
rs1555394780
|
|
NM_000138.5(FBN1):c.6769_6770dup (p.Asp2257fs)
|
rs2141232648
|
|
NM_000138.5(FBN1):c.6769_6773del (p.Asp2257fs)
|
rs2141232639
|
|
NM_000138.5(FBN1):c.6770_6771dup (p.Cys2258fs)
|
rs1555394779
|
|
NM_000138.5(FBN1):c.6772T>C (p.Cys2258Arg)
|
rs1057520617
|
|
NM_000138.5(FBN1):c.6773G>C (p.Cys2258Ser)
|
|
|
NM_000138.5(FBN1):c.6773_6774del (p.Cys2258fs)
|
rs1555394777
|
|
NM_000138.5(FBN1):c.6778G>A (p.Glu2260Lys)
|
|
|
NM_000138.5(FBN1):c.6780_6783del (p.Glu2260fs)
|
|
|
NM_000138.5(FBN1):c.6783_6784insT (p.Gln2262fs)
|
rs2043017815
|
|
NM_000138.5(FBN1):c.6783dup (p.Gln2262fs)
|
rs2141232621
|
|
NM_000138.5(FBN1):c.6784C>T (p.Gln2262Ter)
|
rs1060501023
|
|
NM_000138.5(FBN1):c.6786A>G (p.Gln2262=)
|
|
|
NM_000138.5(FBN1):c.6786_6787del (p.Gln2262fs)
|
rs1555394776
|
|
NM_000138.5(FBN1):c.6790G>T (p.Glu2264Ter)
|
|
|
NM_000138.5(FBN1):c.6790del (p.Glu2264fs)
|
rs1555394775
|
|
NM_000138.5(FBN1):c.6793T>A (p.Cys2265Ser)
|
rs1057522272
|
|
NM_000138.5(FBN1):c.6793T>G (p.Cys2265Gly)
|
rs1057522272
|
|
NM_000138.5(FBN1):c.6793_6800dup (p.Leu2268fs)
|
rs193922227
|
|
NM_000138.5(FBN1):c.6794G>A (p.Cys2265Tyr)
|
rs1057520679
|
|
NM_000138.5(FBN1):c.679C>T (p.Gln227Ter)
|
rs2044025100
|
|
NM_000138.5(FBN1):c.6800del (p.Asn2267fs)
|
rs1566894288
|
|
NM_000138.5(FBN1):c.6801C>A (p.Asn2267Lys)
|
rs886051245
|
|
NM_000138.5(FBN1):c.6801C>G (p.Asn2267Lys)
|
rs886051245
|
|
NM_000138.5(FBN1):c.6801C>T (p.Asn2267=)
|
rs886051245
|
|
NM_000138.5(FBN1):c.6804C>T (p.Leu2268=)
|
|
|
NM_000138.5(FBN1):c.6804del (p.Ile2269fs)
|
rs1597520683
|
|
NM_000138.5(FBN1):c.6806T>A (p.Ile2269Asn)
|
rs193922228
|
|
NM_000138.5(FBN1):c.6808G>T (p.Gly2270Cys)
|
rs1060501025
|
|
NM_000138.5(FBN1):c.6809G>T (p.Gly2270Val)
|
rs1566894274
|
|
NM_000138.5(FBN1):c.680_690del (p.Gln227fs)
|
rs1555401671
|
|
NM_000138.5(FBN1):c.6815A>G (p.Tyr2272Cys)
|
rs2141232534
|
|
NM_000138.5(FBN1):c.6817A>G (p.Met2273Val)
|
|
|
NM_000138.5(FBN1):c.681G>A (p.Gln227=)
|
rs2141358095
|
|
NM_000138.5(FBN1):c.6820T>C (p.Cys2274Arg)
|
rs869025412
|
|
NM_000138.5(FBN1):c.6826T>G (p.Cys2276Gly)
|
rs2043017257
|
|
NM_000138.5(FBN1):c.6828T>G (p.Cys2276Trp)
|
rs1597520625
|
|
NM_000138.5(FBN1):c.682C>T (p.Pro228Ser)
|
|
|
NM_000138.5(FBN1):c.6830G>A (p.Gly2277Glu)
|
rs2043017212
|
|
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.6834del (p.Tyr2280fs)
|
rs1597520619
|
|
NM_000138.5(FBN1):c.6836G>T (p.Gly2279Val)
|
rs2043017049
|
|
NM_000138.5(FBN1):c.6837G>C (p.Gly2279=)
|
|
|
NM_000138.5(FBN1):c.6837del (p.Tyr2280fs)
|
rs2043017030
|
|
NM_000138.5(FBN1):c.6838dup (p.Tyr2280fs)
|
|
|
NM_000138.5(FBN1):c.6839A>G (p.Tyr2280Cys)
|
|
|
NM_000138.5(FBN1):c.6841C>T (p.Gln2281Ter)
|
rs397515840
|
|
NM_000138.5(FBN1):c.6854A>G (p.Asp2285Gly)
|
rs1160071679
|
|
NM_000138.5(FBN1):c.6856G>T (p.Gly2286Ter)
|
rs1555394756
|
|
NM_000138.5(FBN1):c.6857G>A (p.Gly2286Glu)
|
rs1455580241
|
|
NM_000138.5(FBN1):c.6858A>G (p.Gly2286=)
|
|
|
NM_000138.5(FBN1):c.6859G>A (p.Glu2287Lys)
|
rs551736585
|
|
NM_000138.5(FBN1):c.6862G>A (p.Gly2288Ser)
|
|
|
NM_000138.5(FBN1):c.6865T>A (p.Cys2289Ser)
|
|
|
NM_000138.5(FBN1):c.6865T>C (p.Cys2289Arg)
|
rs869025413
|
|
NM_000138.5(FBN1):c.6866G>A (p.Cys2289Tyr)
|
rs1566894230
|
|
NM_000138.5(FBN1):c.6866G>C (p.Cys2289Ser)
|
rs1566894230
|
|
NM_000138.5(FBN1):c.6869del (p.Val2290fs)
|
rs2141232407
|
|
NM_000138.5(FBN1):c.6871+10T>C
|
rs745421627
|
|
NM_000138.5(FBN1):c.6871+16T>C
|
|
|
NM_000138.5(FBN1):c.6871+1G>A
|
rs1555394753
|
|
NM_000138.5(FBN1):c.6871+1G>T
|
rs1555394753
|
|
NM_000138.5(FBN1):c.6871+3A>T
|
rs1555394752
|
|
NM_000138.5(FBN1):c.6871+7G>C
|
rs1597520513
|
|
NM_000138.5(FBN1):c.6871+8G>C
|
|
|
NM_000138.5(FBN1):c.6871+8G>T
|
|
|
NM_000138.5(FBN1):c.6871+9A>G
|
|
|
NM_000138.5(FBN1):c.6872-14A>G
|
rs1064793119
|
|
NM_000138.5(FBN1):c.6872-1G>T
|
rs1597518951
|
|
NM_000138.5(FBN1):c.6872-1_6881dup
|
rs2042999380
|
|
NM_000138.5(FBN1):c.6872-3C>G
|
rs2042999551
|
|
NM_000138.5(FBN1):c.6872-7C>T
|
|
|
NM_000138.5(FBN1):c.6872-961A>G
|
rs1597519658
|
|
NM_000138.5(FBN1):c.6872-961A>T
|
|
|
NM_000138.5(FBN1):c.6872-9A>G
|
rs794728259
|
|
NM_000138.5(FBN1):c.6872A>G (p.Asp2291Gly)
|
rs370283154
|
|
NM_000138.5(FBN1):c.6879T>G (p.Asn2293Lys)
|
|
|
NM_000138.5(FBN1):c.687C>T (p.His229=)
|
rs1391600366
|
|
NM_000138.5(FBN1):c.6880G>A (p.Glu2294Lys)
|
|
|
NM_000138.5(FBN1):c.6881A>C (p.Glu2294Ala)
|
rs1555394647
|
|
NM_000138.5(FBN1):c.6883T>C (p.Cys2295Arg)
|
rs1555394644
|
|
NM_000138.5(FBN1):c.6883T>G (p.Cys2295Gly)
|
rs1555394644
|
|
NM_000138.5(FBN1):c.6884G>A (p.Cys2295Tyr)
|
rs886038949
|
|
NM_000138.5(FBN1):c.6885T>G (p.Cys2295Trp)
|
rs1480832655
|
|
NM_000138.5(FBN1):c.6886C>T (p.Gln2296Ter)
|
rs727504410
|
|
NM_000138.5(FBN1):c.6886del (p.Gln2296fs)
|
rs1555394641
|
|
NM_000138.5(FBN1):c.6888G>T (p.Gln2296His)
|
rs363830
|
|
NM_000138.5(FBN1):c.6890C>G (p.Thr2297Arg)
|
|
|
NM_000138.5(FBN1):c.6896del (p.Pro2299fs)
|
rs2141230021
|
|
NM_000138.5(FBN1):c.6900G>A (p.Gly2300=)
|
|
|
NM_000138.5(FBN1):c.6901A>T (p.Ile2301Phe)
|
|
|
NM_000138.5(FBN1):c.6905G>A (p.Cys2302Tyr)
|
rs2042998789
|
|
NM_000138.5(FBN1):c.6906T>G (p.Cys2302Trp)
|
rs1555394634
|
|
NM_000138.5(FBN1):c.6906_6907del (p.Cys2302_Glu2303delinsTer)
|
rs2141229990
|
|
NM_000138.5(FBN1):c.6911A>C (p.Asn2304Thr)
|
|
|
NM_000138.5(FBN1):c.6915G>C (p.Gly2305=)
|
|
|
NM_000138.5(FBN1):c.6916_6934del (p.Arg2306fs)
|
rs1555394630
|
|
NM_000138.5(FBN1):c.6919T>C (p.Cys2307Arg)
|
|
|
NM_000138.5(FBN1):c.691del (p.Cys231fs)
|
|
|
NM_000138.5(FBN1):c.6920G>A (p.Cys2307Tyr)
|
rs137854457
|
|
NM_000138.5(FBN1):c.6920G>C (p.Cys2307Ser)
|
rs137854457
|
|
NM_000138.5(FBN1):c.6925A>T (p.Asn2309Tyr)
|
rs2141229967
|
|
NM_000138.5(FBN1):c.6927del (p.Asn2309fs)
|
rs1555394633
|
|
NM_000138.5(FBN1):c.6931del (p.Arg2311fs)
|
rs2141229950
|
|
NM_000138.5(FBN1):c.6932dup (p.Gly2312fs)
|
rs1555394631
|
|
NM_000138.5(FBN1):c.6938G>T (p.Ser2313Ile)
|
|
|
NM_000138.5(FBN1):c.6940_6943dup (p.Thr2315fs)
|
rs1566893738
|
|
NM_000138.5(FBN1):c.6947G>A (p.Cys2316Tyr)
|
rs1555394629
|
|
NM_000138.5(FBN1):c.6947G>T (p.Cys2316Phe)
|
rs1555394629
|
|
NM_000138.5(FBN1):c.6948T>A (p.Cys2316Ter)
|
rs1060501016
|
|
NM_000138.5(FBN1):c.6949G>T (p.Glu2317Ter)
|
rs1555394628
|
|
NM_000138.5(FBN1):c.694C>T (p.Arg232Cys)
|
|
|
NM_000138.5(FBN1):c.6951del (p.Glu2317fs)
|
rs2141229903
|
|
NM_000138.5(FBN1):c.6952T>C (p.Cys2318Arg)
|
rs111588631
|
|
NM_000138.5(FBN1):c.6953G>A (p.Cys2318Tyr)
|
rs1555394626
|
|
NM_000138.5(FBN1):c.6954T>C (p.Cys2318=)
|
|
|
NM_000138.5(FBN1):c.6954dup (p.Asn2319Ter)
|
rs1597518796
|
|
NM_000138.5(FBN1):c.6957T>C (p.Asn2319=)
|
rs1290478839
|
|
NM_000138.5(FBN1):c.6959A>G (p.Asp2320Gly)
|
rs794728261
|
|
NM_000138.5(FBN1):c.6959A>T (p.Asp2320Val)
|
rs794728261
|
|
NM_000138.5(FBN1):c.6963del (p.Phe2322fs)
|
rs1060501051
|
|
NM_000138.5(FBN1):c.6964delinsGG (p.Phe2322fs)
|
|
|
NM_000138.5(FBN1):c.6966del (p.Phe2322fs)
|
rs1555394623
|
|
NM_000138.5(FBN1):c.6972C>G (p.Ala2324=)
|
rs1597518738
|
|
NM_000138.5(FBN1):c.697C>A (p.Arg233Ser)
|
rs397515841
|
|
NM_000138.5(FBN1):c.697C>T (p.Arg233Cys)
|
rs397515841
|
|
NM_000138.5(FBN1):c.6987C>T (p.Asp2329=)
|
rs363831
|
|
NM_000138.5(FBN1):c.6992G>T (p.Cys2331Phe)
|
rs397515842
|
|
NM_000138.5(FBN1):c.6992_6997+6del
|
rs2141229796
|
|
NM_000138.5(FBN1):c.6993C>A (p.Cys2331Ter)
|
rs534811966
|
|
NM_000138.5(FBN1):c.6994C>T (p.Leu2332Phe)
|
|
|
NM_000138.5(FBN1):c.6996del (p.Asp2333fs)
|
rs2141229819
|
|
NM_000138.5(FBN1):c.6997+10G>A
|
|
|
NM_000138.5(FBN1):c.6997+17_6997+18delinsGA
|
|
|
NM_000138.5(FBN1):c.6997+17_6997+18delinsGT
|
rs2141229764
|
|
NM_000138.5(FBN1):c.6997+18C>T
|
rs148116316
|
|
NM_000138.5(FBN1):c.6997+19G>A
|
rs767445722
|
|
NM_000138.5(FBN1):c.6997+1G>A
|
rs2042997306
|
|
NM_000138.5(FBN1):c.6997+1G>C
|
rs2042997306
|
|
NM_000138.5(FBN1):c.6997+20C>T
|
|
|
NM_000138.5(FBN1):c.6997+4A>G
|
rs727503055
|
|
NM_000138.5(FBN1):c.6997+5G>A
|
rs2042997205
|
|
NM_000138.5(FBN1):c.6997+5G>T
|
rs2042997205
|
|
NM_000138.5(FBN1):c.6997+5dup
|
|
|
NM_000138.5(FBN1):c.6997+7A>G
|
|
|
NM_000138.5(FBN1):c.6997+8C>T
|
|
|
NM_000138.5(FBN1):c.6998-13A>G
|
rs2042989627
|
|
NM_000138.5(FBN1):c.6998-17T>C
|
|
|
NM_000138.5(FBN1):c.6998-1G>A
|
|
|
NM_000138.5(FBN1):c.6998-22_6998-5del
|
|
|
NM_000138.5(FBN1):c.6998-2A>T
|
rs1555394585
|
|
NM_000138.5(FBN1):c.6998-40del
|
rs193922229
|
|
NM_000138.5(FBN1):c.69T>C (p.His23=)
|
rs2140787712
|
|
NM_000138.5(FBN1):c.7003C>A (p.Arg2335=)
|
|
|
NM_000138.5(FBN1):c.7003C>G (p.Arg2335Gly)
|
rs794728262
|
|
NM_000138.5(FBN1):c.7003C>T (p.Arg2335Trp)
|
rs794728262
|
|
NM_000138.5(FBN1):c.7004G>A (p.Arg2335Gln)
|
rs761248433
|
|
NM_000138.5(FBN1):c.700G>T (p.Gly234Cys)
|
|
|
NM_000138.5(FBN1):c.7010G>C (p.Gly2337Ala)
|
|
|
NM_000138.5(FBN1):c.7013A>G (p.Tyr2338Cys)
|
rs2141229151
|
|
NM_000138.5(FBN1):c.7014C>G (p.Tyr2338Ter)
|
rs1555394582
|
|
NM_000138.5(FBN1):c.7014C>T (p.Tyr2338=)
|
rs1555394582
|
|
NM_000138.5(FBN1):c.7015T>C (p.Cys2339Arg)
|
rs1555394581
|
|
NM_000138.5(FBN1):c.7016G>A (p.Cys2339Tyr)
|
rs1555394580
|
|
NM_000138.5(FBN1):c.7016_7020dup (p.Thr2341fs)
|
rs2141229138
|
|
NM_000138.5(FBN1):c.701G>A (p.Gly234Asp)
|
rs1555401670
|
|
NM_000138.5(FBN1):c.7022_7023del (p.Thr2341fs)
|
rs1555394579
|
|
NM_000138.5(FBN1):c.7022_7039del (p.Thr2341_Asn2346del)
|
|
|
NM_000138.5(FBN1):c.7027G>T (p.Val2343Leu)
|
|
|
NM_000138.5(FBN1):c.702C>T (p.Gly234=)
|
|
|
NM_000138.5(FBN1):c.7032A>G (p.Leu2344=)
|
rs2141229116
|
|
NM_000138.5(FBN1):c.7032_7054del (p.Asn2346fs)
|
rs1597518038
|
|
NM_000138.5(FBN1):c.7037del (p.Asn2346fs)
|
|
|
NM_000138.5(FBN1):c.7039A>T (p.Met2347Leu)
|
rs1284375434
|
|
NM_000138.5(FBN1):c.7039_7040del (p.Met2347fs)
|
rs794728319
|
|
NM_000138.5(FBN1):c.7042T>C (p.Cys2348Arg)
|
rs1555394576
|
|
NM_000138.5(FBN1):c.7043_7044del (p.Cys2348fs)
|
rs2141229101
|
|
NM_000138.5(FBN1):c.7048A>G (p.Ile2350Val)
|
rs794728263
|
|
NM_000138.5(FBN1):c.7050C>T (p.Ile2350=)
|
rs772287755
|
|
NM_000138.5(FBN1):c.7051G>C (p.Gly2351Arg)
|
|
|
NM_000138.5(FBN1):c.7054del (p.Ser2352fs)
|
|
|
NM_000138.5(FBN1):c.7058del (p.Ser2353fs)
|
rs1555394574
|
|
NM_000138.5(FBN1):c.7064G>A (p.Arg2355Lys)
|
rs376372763
|
|
NM_000138.5(FBN1):c.7071del (p.Val2358fs)
|
rs1555394571
|
|
NM_000138.5(FBN1):c.7074C>T (p.Val2358=)
|
|
|
NM_000138.5(FBN1):c.7078A>C (p.Lys2360Gln)
|
|
|
NM_000138.5(FBN1):c.7080dup (p.Ser2361fs)
|
rs1597517970
|
|
NM_000138.5(FBN1):c.7082C>A (p.Ser2361Ter)
|
rs397515844
|
|
NM_000138.5(FBN1):c.7082C>G (p.Ser2361Trp)
|
rs397515844
|
|
NM_000138.5(FBN1):c.7084G>T (p.Glu2362Ter)
|
rs1555394570
|
|
NM_000138.5(FBN1):c.7087T>G (p.Cys2363Gly)
|
rs1597517935
|
|
NM_000138.5(FBN1):c.7088G>T (p.Cys2363Phe)
|
rs2042988482
|
|
NM_000138.5(FBN1):c.7089CTG[1] (p.Cys2365del)
|
|
|
NM_000138.5(FBN1):c.7091G>C (p.Cys2364Ser)
|
|
|
NM_000138.5(FBN1):c.7092C>A (p.Cys2364Ter)
|
rs1555394569
|
|
NM_000138.5(FBN1):c.7094G>A (p.Cys2365Tyr)
|
rs397515845
|
|
NM_000138.5(FBN1):c.7096G>A (p.Asp2366Asn)
|
rs1259235311
|
|
NM_000138.5(FBN1):c.7099G>T (p.Gly2367Ter)
|
rs368978109
|
|
NM_000138.5(FBN1):c.7109G>A (p.Gly2370Asp)
|
|
|
NM_000138.5(FBN1):c.7109del (p.Gly2370fs)
|
rs869025422
|
|
NM_000138.5(FBN1):c.710del (p.Pro237fs)
|
|
|
NM_000138.5(FBN1):c.7111T>C (p.Trp2371Arg)
|
rs794728264
|
|
NM_000138.5(FBN1):c.7112G>A (p.Trp2371Ter)
|
rs1555394567
|
|
NM_000138.5(FBN1):c.7113G>A (p.Trp2371Ter)
|
rs886039063
|
|
NM_000138.5(FBN1):c.7114G>A (p.Gly2372Ser)
|
rs2042988137
|
|
NM_000138.5(FBN1):c.7115G>T (p.Gly2372Val)
|
rs112369155
|
|
NM_000138.5(FBN1):c.7116dup (p.Pro2373fs)
|
rs2141228932
|
|
NM_000138.5(FBN1):c.7117C>T (p.Pro2373Ser)
|
|
|
NM_000138.5(FBN1):c.7119_7120insGGAC (p.His2374fs)
|
rs1597517858
|
|
NM_000138.5(FBN1):c.7121A>G (p.His2374Arg)
|
rs1060501018
|
|
NM_000138.5(FBN1):c.7125T>A (p.Cys2375Ter)
|
rs794728265
|
|
NM_000138.5(FBN1):c.7129A>G (p.Ile2377Val)
|
|
|
NM_000138.5(FBN1):c.7134C>G (p.Cys2378Trp)
|
rs1555394562
|
|
NM_000138.5(FBN1):c.7139del (p.Phe2380fs)
|
rs1555394561
|
|
NM_000138.5(FBN1):c.7139dup (p.Gln2381fs)
|
rs1555394561
|
|
NM_000138.5(FBN1):c.7141C>T (p.Gln2381Ter)
|
rs869025414
|
|
NM_000138.5(FBN1):c.7146G>T (p.Gly2382=)
|
|
|
NM_000138.5(FBN1):c.7149T>A (p.Thr2383=)
|
|
|
NM_000138.5(FBN1):c.7149T>G (p.Thr2383=)
|
|
|
NM_000138.5(FBN1):c.7151_7152del (p.Val2384fs)
|
rs869025423
|
|
NM_000138.5(FBN1):c.7154C>T (p.Ala2385Val)
|
|
|
NM_000138.5(FBN1):c.7162A>G (p.Lys2388Glu)
|
rs1566893398
|
|
NM_000138.5(FBN1):c.7167_7168del (p.Cys2390fs)
|
rs397515846
|
|
NM_000138.5(FBN1):c.7168T>A (p.Cys2390Ser)
|
rs397515847
|
|
NM_000138.5(FBN1):c.7168T>C (p.Cys2390Arg)
|
rs397515847
|
|
NM_000138.5(FBN1):c.7169G>A (p.Cys2390Tyr)
|
rs864622754
|
|
NM_000138.5(FBN1):c.716T>C (p.Ile239Thr)
|
|
|
NM_000138.5(FBN1):c.7172C>G (p.Pro2391Arg)
|
|
|
NM_000138.5(FBN1):c.7175A>G (p.His2392Arg)
|
|
|
NM_000138.5(FBN1):c.7176T>C (p.His2392=)
|
|
|
NM_000138.5(FBN1):c.7178G>C (p.Gly2393Ala)
|
|
|
NM_000138.5(FBN1):c.7178dup (p.Arg2394fs)
|
rs1597517771
|
|
NM_000138.5(FBN1):c.7180C>T (p.Arg2394Ter)
|
rs397515848
|
|
NM_000138.5(FBN1):c.7184G>A (p.Gly2395Glu)
|
|
|
NM_000138.5(FBN1):c.7184G>T (p.Gly2395Val)
|
rs397515849
|
|
NM_000138.5(FBN1):c.718C>T (p.Arg240Cys)
|
rs137854480
|
|
NM_000138.5(FBN1):c.7191dup (p.Thr2398fs)
|
rs1555394559
|
|
NM_000138.5(FBN1):c.7193C>T (p.Thr2398Ile)
|
rs1169351376
|
|
NM_000138.5(FBN1):c.719G>A (p.Arg240His)
|
rs768744583
|
|
NM_000138.5(FBN1):c.71G>C (p.Gly24Ala)
|
rs768993489
|
|
NM_000138.5(FBN1):c.7201G>T (p.Ala2401Ser)
|
rs771260695
|
|
NM_000138.5(FBN1):c.7204+15G>A
|
|
|
NM_000138.5(FBN1):c.7204+1G>A
|
rs1555394557
|
|
NM_000138.5(FBN1):c.7204+1G>T
|
rs1555394557
|
|
NM_000138.5(FBN1):c.7204+20A>G
|
|
|
NM_000138.5(FBN1):c.7204+2T>C
|
rs1555394556
|
|
NM_000138.5(FBN1):c.7204+3A>G
|
rs1057518076
|
|
NM_000138.5(FBN1):c.7204+3A>T
|
|
|
NM_000138.5(FBN1):c.7204G>A (p.Asp2402Asn)
|
rs1057524757
|
|
NM_000138.5(FBN1):c.7205-10T>A
|
|
|
NM_000138.5(FBN1):c.7205-18A>G
|
rs1555394451
|
|
NM_000138.5(FBN1):c.7205-18A>T
|
|
|
NM_000138.5(FBN1):c.7205-1G>A
|
rs794728266
|
|
NM_000138.5(FBN1):c.7205-1G>C
|
rs794728266
|
|
NM_000138.5(FBN1):c.7205-2A>C
|
rs1555394450
|
|
NM_000138.5(FBN1):c.7205-2A>G
|
rs1555394450
|
|
NM_000138.5(FBN1):c.7208T>A (p.Ile2403Asn)
|
rs1555394449
|
|
NM_000138.5(FBN1):c.7212T>C (p.Asp2404=)
|
rs2141227085
|
|
NM_000138.5(FBN1):c.7216T>C (p.Cys2406Arg)
|
rs2042976167
|
|
NM_000138.5(FBN1):c.7217G>A (p.Cys2406Tyr)
|
rs1131691479
|
|
NM_000138.5(FBN1):c.7217_7226delinsTACAGA (p.Cys2406fs)
|
rs1597516501
|
|
NM_000138.5(FBN1):c.7221_7225del (p.Lys2407fs)
|
rs1597516509
|
|
NM_000138.5(FBN1):c.7227T>A (p.Ile2409=)
|
|
|
NM_000138.5(FBN1):c.7228_7232dup (p.Val2412fs)
|
rs1555394445
|
|
NM_000138.5(FBN1):c.7229A>C (p.His2410Pro)
|
rs193922230
|
|
NM_000138.5(FBN1):c.7235T>C (p.Val2412Ala)
|
rs1060501061
|
|
NM_000138.5(FBN1):c.7236T>C (p.Val2412=)
|
rs1306021418
|
|
NM_000138.5(FBN1):c.7238G>A (p.Cys2413Tyr)
|
rs1566892915
|
|
NM_000138.5(FBN1):c.7238G>C (p.Cys2413Ser)
|
rs1566892915
|
|
NM_000138.5(FBN1):c.7239C>T (p.Cys2413=)
|
rs2042975041
|
|
NM_000138.5(FBN1):c.723G>A (p.Thr241=)
|
rs757264206
|
|
NM_000138.5(FBN1):c.7240C>T (p.Arg2414Ter)
|
rs112550005
|
|
NM_000138.5(FBN1):c.7242A>C (p.Arg2414=)
|
|
|
NM_000138.5(FBN1):c.7244A>T (p.Asn2415Ile)
|
rs1566892910
|
|
NM_000138.5(FBN1):c.7244_7251del (p.Asn2415fs)
|
|
|
NM_000138.5(FBN1):c.7245del (p.Asn2415fs)
|
rs2141227006
|
|
NM_000138.5(FBN1):c.7246G>A (p.Gly2416Arg)
|
rs794728269
|
|
NM_000138.5(FBN1):c.7247G>T (p.Gly2416Val)
|
rs1555394442
|
|
NM_000138.5(FBN1):c.7249G>T (p.Glu2417Ter)
|
rs2042974889
|
|
NM_000138.5(FBN1):c.7251_7262del (p.Glu2417_Asn2420del)
|
|
|
NM_000138.5(FBN1):c.7251dup (p.Cys2418fs)
|
rs1566892906
|
|
NM_000138.5(FBN1):c.7252T>A (p.Cys2418Ser)
|
rs1555394441
|
|
NM_000138.5(FBN1):c.7252T>C (p.Cys2418Arg)
|
rs1555394441
|
|
NM_000138.5(FBN1):c.7253G>A (p.Cys2418Tyr)
|
rs794728270
|
|
NM_000138.5(FBN1):c.7258A>C (p.Asn2420His)
|
|
|
NM_000138.5(FBN1):c.7259A>G (p.Asn2420Ser)
|
rs2141226971
|
|
NM_000138.5(FBN1):c.7259del (p.Asn2420fs)
|
rs869025424
|
|
NM_000138.5(FBN1):c.726A>T (p.Gly242=)
|
|
|
NM_000138.5(FBN1):c.7271C>A (p.Ser2424Ter)
|
|
|
NM_000138.5(FBN1):c.7275T>C (p.Tyr2425=)
|
|
|
NM_000138.5(FBN1):c.7276C>T (p.His2426Tyr)
|
rs372369490
|
|
NM_000138.5(FBN1):c.7276_7278del (p.His2426del)
|
rs2141226930
|
|
NM_000138.5(FBN1):c.7276_7283del (p.His2426fs)
|
|
|
NM_000138.5(FBN1):c.7279T>C (p.Cys2427Arg)
|
rs1566892883
|
|
NM_000138.5(FBN1):c.7286G>A (p.Cys2429Tyr)
|
rs2141226916
|
|
NM_000138.5(FBN1):c.7286G>T (p.Cys2429Phe)
|
rs2141226916
|
|
NM_000138.5(FBN1):c.7287del (p.Ile2428_Cys2429insTer)
|
rs2042974444
|
|
NM_000138.5(FBN1):c.7295G>C (p.Gly2432Ala)
|
rs1266993955
|
|
NM_000138.5(FBN1):c.7298A>G (p.Tyr2433Cys)
|
rs1555394437
|
|
NM_000138.5(FBN1):c.7305A>G (p.Pro2435=)
|
rs2042974267
|
|
NM_000138.5(FBN1):c.7309A>G (p.Ile2437Val)
|
|
|
NM_000138.5(FBN1):c.7314del (p.Thr2440fs)
|
rs2141226866
|
|
NM_000138.5(FBN1):c.7317G>A (p.Gly2439=)
|
rs766871786
|
|
NM_000138.5(FBN1):c.7323del (p.Cys2442fs)
|
rs1555394436
|
|
NM_000138.5(FBN1):c.7324T>A (p.Cys2442Ser)
|
rs1555394435
|
|
NM_000138.5(FBN1):c.7325G>A (p.Cys2442Tyr)
|
rs1597516347
|
|
NM_000138.5(FBN1):c.7327G>A (p.Val2443Ile)
|
|
|
NM_000138.5(FBN1):c.7328T>C (p.Val2443Ala)
|
rs2141226842
|
|
NM_000138.5(FBN1):c.732T>A (p.Cys244Ter)
|
rs878853689
|
|
NM_000138.5(FBN1):c.7330+11A>G
|
|
|
NM_000138.5(FBN1):c.7330+17G>A
|
|
|
NM_000138.5(FBN1):c.7330+1G>T
|
|
|
NM_000138.5(FBN1):c.7330+3A>G
|
rs2042974020
|
|
NM_000138.5(FBN1):c.7330+3_7330+6del
|
rs1597516325
|
|
NM_000138.5(FBN1):c.7330G>T (p.Asp2444Tyr)
|
rs1555394434
|
|
NM_000138.5(FBN1):c.7331-16A>G
|
|
|
NM_000138.5(FBN1):c.7331-17T>C
|
rs2141226524
|
|
NM_000138.5(FBN1):c.7331-1G>A
|
|
|
NM_000138.5(FBN1):c.7331-1G>C
|
rs1555394412
|
|
NM_000138.5(FBN1):c.7331-1_7343dup
|
rs2042971987
|
|
NM_000138.5(FBN1):c.7331-2A>G
|
|
|
NM_000138.5(FBN1):c.7331A>G (p.Asp2444Gly)
|
rs1060501093
|
|
NM_000138.5(FBN1):c.7335G>A (p.Leu2445=)
|
|
|
NM_000138.5(FBN1):c.7339G>C (p.Glu2447Gln)
|
|
|
NM_000138.5(FBN1):c.733C>T (p.Gln245Ter)
|
rs1555401667
|
|
NM_000138.5(FBN1):c.7341G>A (p.Glu2447=)
|
rs1437889689
|
|
NM_000138.5(FBN1):c.7342T>C (p.Cys2448Arg)
|
rs1566892757
|
|
NM_000138.5(FBN1):c.7347_7358del (p.Asn2449_Pro2452del)
|
rs2042971876
|
|
NM_000138.5(FBN1):c.734A>C (p.Gln245Pro)
|
|
|
NM_000138.5(FBN1):c.736+17G>A
|
rs540588651
|
|
NM_000138.5(FBN1):c.7364G>A (p.Cys2455Tyr)
|
rs1555394409
|
|
NM_000138.5(FBN1):c.7365C>G (p.Cys2455Trp)
|
rs1555394408
|
|
NM_000138.5(FBN1):c.737-17C>G
|
|
|
NM_000138.5(FBN1):c.737-17_740del
|
rs1597591735
|
|
NM_000138.5(FBN1):c.737-19G>C
|
|
|
NM_000138.5(FBN1):c.737-19_737-16del
|
rs748812494
|
|
NM_000138.5(FBN1):c.737-23_737-20del
|
|
|
NM_000138.5(FBN1):c.737-25CT[2]
|
rs72041020
|
|
NM_000138.5(FBN1):c.737-9A>G
|
rs1060501020
|
|
NM_000138.5(FBN1):c.7371dup (p.Ile2458fs)
|
rs1555394407
|
|
NM_000138.5(FBN1):c.7372A>G (p.Ile2458Val)
|
|
|
NM_000138.5(FBN1):c.7376G>A (p.Cys2459Tyr)
|
rs1555394406
|
|
NM_000138.5(FBN1):c.7376G>T (p.Cys2459Phe)
|
rs1555394406
|
|
NM_000138.5(FBN1):c.7382A>G (p.Asn2461Ser)
|
rs1555394405
|
|
NM_000138.5(FBN1):c.7382dup (p.Asn2461fs)
|
rs2141226412
|
|
NM_000138.5(FBN1):c.7383C>G (p.Asn2461Lys)
|
rs754047254
|
|
NM_000138.5(FBN1):c.7383del (p.Asn2461fs)
|
rs2141226409
|
|
NM_000138.5(FBN1):c.7384A>C (p.Thr2462Pro)
|
rs371278936
|
|
NM_000138.5(FBN1):c.7384A>G (p.Thr2462Ala)
|
rs371278936
|
|
NM_000138.5(FBN1):c.7384A>T (p.Thr2462Ser)
|
|
|
NM_000138.5(FBN1):c.7387G>T (p.Glu2463Ter)
|
rs1566892735
|
|
NM_000138.5(FBN1):c.7394G>T (p.Ser2465Ile)
|
rs2141226387
|
|
NM_000138.5(FBN1):c.7397A>G (p.Tyr2466Cys)
|
rs1555394403
|
|
NM_000138.5(FBN1):c.7398C>A (p.Tyr2466Ter)
|
rs1555394402
|
|
NM_000138.5(FBN1):c.7398C>G (p.Tyr2466Ter)
|
rs1555394402
|
|
NM_000138.5(FBN1):c.7399C>T (p.Gln2467Ter)
|
rs1566892727
|
|
NM_000138.5(FBN1):c.7399del (p.Gln2467fs)
|
rs2042971434
|
|
NM_000138.5(FBN1):c.73G>T (p.Ala25Ser)
|
|
|
NM_000138.5(FBN1):c.7400A>C (p.Gln2467Pro)
|
rs770839761
|
|
NM_000138.5(FBN1):c.7402T>C (p.Cys2468Arg)
|
rs1085308004
|
|
NM_000138.5(FBN1):c.7403G>A (p.Cys2468Tyr)
|
rs1555394400
|
|
NM_000138.5(FBN1):c.7406C>A (p.Ser2469Ter)
|
|
|
NM_000138.5(FBN1):c.7407A>G (p.Ser2469=)
|
rs193922232
|
|
NM_000138.5(FBN1):c.7408T>A (p.Cys2470Ser)
|
rs1555394399
|
|
NM_000138.5(FBN1):c.7408T>C (p.Cys2470Arg)
|
rs1555394399
|
|
NM_000138.5(FBN1):c.7409G>A (p.Cys2470Tyr)
|
rs1555394398
|
|
NM_000138.5(FBN1):c.7409G>T (p.Cys2470Phe)
|
rs1555394398
|
|
NM_000138.5(FBN1):c.7409_7410delinsAT (p.Cys2470Tyr)
|
rs2141226319
|
|
NM_000138.5(FBN1):c.7410C>G (p.Cys2470Trp)
|
rs1555394397
|
|
NM_000138.5(FBN1):c.7412C>T (p.Pro2471Leu)
|
rs193922233
|
|
NM_000138.5(FBN1):c.7415A>G (p.Lys2472Arg)
|
|
|
NM_000138.5(FBN1):c.7418G>A (p.Gly2473Asp)
|
rs2042971166
|
|
NM_000138.5(FBN1):c.7421A>G (p.Tyr2474Cys)
|
rs869025415
|
|
NM_000138.5(FBN1):c.7421del (p.Tyr2474fs)
|
rs1060501060
|
|
NM_000138.5(FBN1):c.7428G>A (p.Leu2476=)
|
rs1229985371
|
|
NM_000138.5(FBN1):c.7432G>T (p.Glu2478Ter)
|
rs537570299
|
|
NM_000138.5(FBN1):c.7440_7442del (p.Arg2481del)
|
|
|
NM_000138.5(FBN1):c.7447T>C (p.Cys2483Arg)
|
rs1555394391
|
|
NM_000138.5(FBN1):c.7447T>G (p.Cys2483Gly)
|
|
|
NM_000138.5(FBN1):c.7448G>A (p.Cys2483Tyr)
|
rs1555394390
|
|
NM_000138.5(FBN1):c.7448G>C (p.Cys2483Ser)
|
rs1555394390
|
|
NM_000138.5(FBN1):c.7453+10A>C
|
|
|
NM_000138.5(FBN1):c.7453+15A>G
|
|
|
NM_000138.5(FBN1):c.7453+16C>A
|
|
|
NM_000138.5(FBN1):c.7453+1G>T
|
rs397515851
|
|
NM_000138.5(FBN1):c.7453+1del
|
rs2042970813
|
|
NM_000138.5(FBN1):c.7453+2T>G
|
|
|
NM_000138.5(FBN1):c.7454-10T>C
|
|
|
NM_000138.5(FBN1):c.7454-13C>G
|
|
|
NM_000138.5(FBN1):c.7454-17C>T
|
|
|
NM_000138.5(FBN1):c.7454-1G>C
|
rs2141222615
|
|
NM_000138.5(FBN1):c.7454-1G>T
|
rs2141222615
|
|
NM_000138.5(FBN1):c.7454-2A>G
|
rs2042947959
|
|
NM_000138.5(FBN1):c.7454-4G>T
|
rs1365010331
|
|
NM_000138.5(FBN1):c.7454A>G (p.Asp2485Gly)
|
rs1085307921
|
|
NM_000138.5(FBN1):c.7455_7821del
|
|
|
NM_000138.5(FBN1):c.7460A>G (p.Asp2487Gly)
|
|
|
NM_000138.5(FBN1):c.7463A>C (p.Glu2488Ala)
|
|
|
NM_000138.5(FBN1):c.7463A>G (p.Glu2488Gly)
|
|
|
NM_000138.5(FBN1):c.7464G>A (p.Glu2488=)
|
rs1597513869
|
|
NM_000138.5(FBN1):c.7465T>A (p.Cys2489Ser)
|
rs1057520728
|
|
NM_000138.5(FBN1):c.7465T>G (p.Cys2489Gly)
|
rs1057520728
|
|
NM_000138.5(FBN1):c.7466G>A (p.Cys2489Tyr)
|
rs1060501077
|
|
NM_000138.5(FBN1):c.7473_7480del (p.Lys2492fs)
|
rs2042947612
|
|
NM_000138.5(FBN1):c.7476G>A (p.Lys2492=)
|
rs2141222576
|
|
NM_000138.5(FBN1):c.7477C>T (p.Gln2493Ter)
|
rs2042947671
|
|
NM_000138.5(FBN1):c.7478_7488del (p.Gln2493fs)
|
|
|
NM_000138.5(FBN1):c.7486T>A (p.Cys2496Ser)
|
rs1555394246
|
|
NM_000138.5(FBN1):c.7487G>T (p.Cys2496Phe)
|
rs1555394245
|
|
NM_000138.5(FBN1):c.748T>C (p.Cys250Arg)
|
|
|
NM_000138.5(FBN1):c.748_749insCC (p.Cys250fs)
|
rs2043996054
|
|
NM_000138.5(FBN1):c.7490A>C (p.Gln2497Pro)
|
rs2042947403
|
|
NM_000138.5(FBN1):c.7492T>G (p.Phe2498Val)
|
|
|
NM_000138.5(FBN1):c.7496T>C (p.Leu2499Pro)
|
|
|
NM_000138.5(FBN1):c.7497_7498del (p.Cys2500_Val2501insTer)
|
rs397515852
|
|
NM_000138.5(FBN1):c.7498T>A (p.Cys2500Ser)
|
rs363810
|
|
NM_000138.5(FBN1):c.7498T>C (p.Cys2500Arg)
|
rs363810
|
|
NM_000138.5(FBN1):c.7498_7504del (p.Cys2500fs)
|
rs2141222500
|
|
NM_000138.5(FBN1):c.7499G>A (p.Cys2500Tyr)
|
rs794728160
|
|
NM_000138.5(FBN1):c.7502_7508dup (p.Thr2503_Ile2504insTer)
|
rs2141222494
|
|
NM_000138.5(FBN1):c.7503T>G (p.Val2501=)
|
|
|
NM_000138.5(FBN1):c.7505A>T (p.Asn2502Ile)
|
rs1555394243
|
|
NM_000138.5(FBN1):c.750C>T (p.Cys250=)
|
|
|
NM_000138.5(FBN1):c.7510A>T (p.Ile2504Phe)
|
rs1223532755
|
|
NM_000138.5(FBN1):c.7515C>T (p.Gly2505=)
|
rs374570475
|
|
NM_000138.5(FBN1):c.7520T>G (p.Phe2507Cys)
|
|
|
NM_000138.5(FBN1):c.7524A>T (p.Thr2508=)
|
rs201992942
|
|
NM_000138.5(FBN1):c.7525T>A (p.Cys2509Ser)
|
rs1060501055
|
|
NM_000138.5(FBN1):c.7525T>G (p.Cys2509Gly)
|
rs1060501055
|
|
NM_000138.5(FBN1):c.7526G>A (p.Cys2509Tyr)
|
|
|
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.7533T>G (p.Cys2511Trp)
|
rs750331217
|
|
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg)
|
rs363811
|
|
NM_000138.5(FBN1):c.7540G>T (p.Gly2514Ter)
|
|
|
NM_000138.5(FBN1):c.7541G>A (p.Gly2514Glu)
|
|
|
NM_000138.5(FBN1):c.7547C>T (p.Thr2516Ile)
|
rs2042946390
|
|
NM_000138.5(FBN1):c.7549C>T (p.Gln2517Ter)
|
rs1566891808
|
|
NM_000138.5(FBN1):c.754dup (p.Ala252fs)
|
rs2043995981
|
|
NM_000138.5(FBN1):c.7554C>A (p.His2518Gln)
|
rs2042946233
|
|
NM_000138.5(FBN1):c.7558_7568del (p.His2519_Thr2520insTer)
|
rs2141222379
|
|
NM_000138.5(FBN1):c.7559del (p.Thr2520fs)
|
rs1597513708
|
|
NM_000138.5(FBN1):c.755_762del (p.Ala252fs)
|
rs2043995821
|
|
NM_000138.5(FBN1):c.7563_7570delinsGTTGGA (p.Cys2522fs)
|
rs2042946001
|
|
NM_000138.5(FBN1):c.7566C>A (p.Cys2522Ter)
|
rs1555394235
|
|
NM_000138.5(FBN1):c.7570+11G>C
|
|
|
NM_000138.5(FBN1):c.7570+20A>G
|
|
|
NM_000138.5(FBN1):c.7570+3G>A
|
rs771716341
|
|
NM_000138.5(FBN1):c.7570+5G>A
|
rs1566891797
|
|
NM_000138.5(FBN1):c.7570G>C (p.Asp2524His)
|
rs2042945976
|
|
NM_000138.5(FBN1):c.7571-13C>G
|
|
|
NM_000138.5(FBN1):c.7571-1G>A
|
rs1566891706
|
|
NM_000138.5(FBN1):c.7571-5C>G
|
|
|
NM_000138.5(FBN1):c.7574del (p.Asn2525fs)
|
rs1555394220
|
|
NM_000138.5(FBN1):c.7577A>G (p.Asn2526Ser)
|
rs794728336
|
|
NM_000138.5(FBN1):c.7577del (p.Asn2526fs)
|
rs1555394218
|
|
NM_000138.5(FBN1):c.7578T>C (p.Asn2526=)
|
|
|
NM_000138.5(FBN1):c.7579G>C (p.Glu2527Gln)
|
rs2141222003
|
|
NM_000138.5(FBN1):c.7580A>C (p.Glu2527Ala)
|
rs397515853
|
|
NM_000138.5(FBN1):c.7581A>G (p.Glu2527=)
|
rs2141221997
|
|
NM_000138.5(FBN1):c.7582T>G (p.Cys2528Gly)
|
|
|
NM_000138.5(FBN1):c.7583G>C (p.Cys2528Ser)
|
rs2141221984
|
|
NM_000138.5(FBN1):c.7584C>A (p.Cys2528Ter)
|
rs1303268147
|
|
NM_000138.5(FBN1):c.7599T>A (p.Asn2533Lys)
|
|
|
NM_000138.5(FBN1):c.7603T>C (p.Cys2535Arg)
|
rs1555394212
|
|
NM_000138.5(FBN1):c.7603T>G (p.Cys2535Gly)
|
|
|
NM_000138.5(FBN1):c.7604G>A (p.Cys2535Tyr)
|
rs1555394210
|
|
NM_000138.5(FBN1):c.7604_7605delinsTG (p.Cys2535Leu)
|
|
|
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.7608G>A (p.Gly2536=)
|
|
|
NM_000138.5(FBN1):c.7608dup (p.Ser2537fs)
|
rs1555394206
|
|
NM_000138.5(FBN1):c.760C>G (p.Pro254Ala)
|
rs2141353825
|
|
NM_000138.5(FBN1):c.7610C>G (p.Ser2537Cys)
|
rs2141221930
|
|
NM_000138.5(FBN1):c.7610del (p.Ser2537fs)
|
rs2141221934
|
|
NM_000138.5(FBN1):c.7617del (p.Ile2540fs)
|
rs2141221916
|
|
NM_000138.5(FBN1):c.7621del (p.Cys2541fs)
|
rs2042942749
|
|
NM_000138.5(FBN1):c.7622G>A (p.Cys2541Tyr)
|
|
|
NM_000138.5(FBN1):c.7624C>T (p.Gln2542Ter)
|
rs794728276
|
|
NM_000138.5(FBN1):c.7627A>C (p.Asn2543His)
|
|
|
NM_000138.5(FBN1):c.762del (p.Leu256fs)
|
rs1064793559
|
|
NM_000138.5(FBN1):c.7630del (p.Thr2544fs)
|
|
|
NM_000138.5(FBN1):c.7633C>T (p.Pro2545Ser)
|
rs2141221883
|
|
NM_000138.5(FBN1):c.7636G>A (p.Gly2546Arg)
|
rs2042942573
|
|
NM_000138.5(FBN1):c.763G>T (p.Gly255Trp)
|
|
|
NM_000138.5(FBN1):c.7641C>G (p.Ser2547Arg)
|
rs1555394198
|
|
NM_000138.5(FBN1):c.7642T>C (p.Phe2548Leu)
|
rs2141221864
|
|
NM_000138.5(FBN1):c.7643T>A (p.Phe2548Tyr)
|
|
|
NM_000138.5(FBN1):c.7643del (p.Phe2548fs)
|
rs1555394197
|
|
NM_000138.5(FBN1):c.7648T>A (p.Cys2550Ser)
|
rs1566891675
|
|
NM_000138.5(FBN1):c.7649G>A (p.Cys2550Tyr)
|
rs1555394196
|
|
NM_000138.5(FBN1):c.7650_7651insA (p.Glu2551fs)
|
rs1060501042
|
|
NM_000138.5(FBN1):c.7654T>C (p.Cys2552Arg)
|
rs1566891668
|
|
NM_000138.5(FBN1):c.7655G>T (p.Cys2552Phe)
|
rs113334360
|
|
NM_000138.5(FBN1):c.7655_7656del (p.Cys2552fs)
|
rs1597513323
|
|
NM_000138.5(FBN1):c.7655_7656delinsAA (p.Cys2552Ter)
|
rs1597513319
|
|
NM_000138.5(FBN1):c.7656C>A (p.Cys2552Ter)
|
rs1555394195
|
|
NM_000138.5(FBN1):c.7663G>A (p.Gly2555Arg)
|
rs1566891655
|
|
NM_000138.5(FBN1):c.7664G>T (p.Gly2555Val)
|
rs1566891654
|
|
NM_000138.5(FBN1):c.7665A>G (p.Gly2555=)
|
rs1597513298
|
|
NM_000138.5(FBN1):c.7666T>G (p.Phe2556Val)
|
rs193922234
|
|
NM_000138.5(FBN1):c.7668C>T (p.Phe2556=)
|
rs2141221791
|
|
NM_000138.5(FBN1):c.7676_7677del (p.Asp2559fs)
|
rs2141221768
|
|
NM_000138.5(FBN1):c.7678C>T (p.Gln2560Ter)
|
|
|
NM_000138.5(FBN1):c.7678del (p.Gln2560fs)
|
rs193922235
|
|
NM_000138.5(FBN1):c.7688C>G (p.Ser2563Cys)
|
rs2042941564
|
|
NM_000138.5(FBN1):c.7693T>C (p.Cys2565Arg)
|
|
|
NM_000138.5(FBN1):c.7693del (p.Cys2565fs)
|
rs2141221743
|
|
NM_000138.5(FBN1):c.7694G>A (p.Cys2565Tyr)
|
rs1566891645
|
|
NM_000138.5(FBN1):c.7696G>T (p.Glu2566Ter)
|
rs2141221739
|
|
NM_000138.5(FBN1):c.7697A>C (p.Glu2566Ala)
|
rs2042941498
|
|
NM_000138.5(FBN1):c.7699+15C>T
|
rs1280521883
|
|
NM_000138.5(FBN1):c.7699+18C>T
|
rs753819758
|
|
NM_000138.5(FBN1):c.7699+1G>A
|
rs1555394189
|
|
NM_000138.5(FBN1):c.7699+20G>A
|
|
|
NM_000138.5(FBN1):c.7699+2T>C
|
|
|
NM_000138.5(FBN1):c.7699+5G>A
|
rs1555394187
|
|
NM_000138.5(FBN1):c.769dup (p.Cys257fs)
|
|
|
NM_000138.5(FBN1):c.7700-10T>G
|
|
|
NM_000138.5(FBN1):c.7700-4T>G
|
|
|
NM_000138.5(FBN1):c.7700-7T>C
|
|
|
NM_000138.5(FBN1):c.7700-9C>G
|
rs772261791
|
|
NM_000138.5(FBN1):c.7700-9C>T
|
rs772261791
|
|
NM_000138.5(FBN1):c.7700_7706del (p.Asp2567fs)
|
rs2141220862
|
|
NM_000138.5(FBN1):c.7704G>T (p.Val2568=)
|
|
|
NM_000138.5(FBN1):c.7706A>C (p.Asp2569Ala)
|
|
|
NM_000138.5(FBN1):c.7706A>G (p.Asp2569Gly)
|
rs2141220859
|
|
NM_000138.5(FBN1):c.7706del (p.Asp2569fs)
|
|
|
NM_000138.5(FBN1):c.7708G>A (p.Glu2570Lys)
|
rs886038786
|
|
NM_000138.5(FBN1):c.7710G>A (p.Glu2570=)
|
rs748055037
|
|
NM_000138.5(FBN1):c.7710_7712del (p.Glu2570_Cys2571delinsAsp)
|
|
|
NM_000138.5(FBN1):c.7711T>C (p.Cys2571Arg)
|
rs2042934926
|
|
NM_000138.5(FBN1):c.7712G>A (p.Cys2571Tyr)
|
rs1555394153
|
|
NM_000138.5(FBN1):c.7712G>T (p.Cys2571Phe)
|
rs1555394153
|
|
NM_000138.5(FBN1):c.7713_7730del (p.Glu2572_Cys2577del)
|
rs2141220791
|
|
NM_000138.5(FBN1):c.7714G>A (p.Glu2572Lys)
|
rs2141220835
|
|
NM_000138.5(FBN1):c.7714G>T (p.Glu2572Ter)
|
|
|
NM_000138.5(FBN1):c.7718G>A (p.Gly2573Asp)
|
|
|
NM_000138.5(FBN1):c.7719del (p.Asn2574fs)
|
rs1555394152
|
|
NM_000138.5(FBN1):c.7726C>T (p.Arg2576Cys)
|
rs147195031
|
|
NM_000138.5(FBN1):c.7728C>G (p.Arg2576=)
|
|
|
NM_000138.5(FBN1):c.7728C>T (p.Arg2576=)
|
rs751226629
|
|
NM_000138.5(FBN1):c.7729dup (p.Cys2577fs)
|
rs1555394151
|
|
NM_000138.5(FBN1):c.772C>T (p.Gln258Ter)
|
rs146348130
|
|
NM_000138.5(FBN1):c.7732C>A (p.Gln2578Lys)
|
|
|
NM_000138.5(FBN1):c.7735_7746dup (p.His2579_Gln2582dup)
|
rs2141220752
|
|
NM_000138.5(FBN1):c.7735del (p.His2579fs)
|
rs1566891454
|
|
NM_000138.5(FBN1):c.7736A>C (p.His2579Pro)
|
|
|
NM_000138.5(FBN1):c.7737T>G (p.His2579Gln)
|
|
|
NM_000138.5(FBN1):c.7739G>A (p.Gly2580Asp)
|
|
|
NM_000138.5(FBN1):c.7742G>A (p.Cys2581Tyr)
|
rs1555394149
|
|
NM_000138.5(FBN1):c.7742G>C (p.Cys2581Ser)
|
rs1555394149
|
|
NM_000138.5(FBN1):c.7746G>A (p.Gln2582=)
|
rs1555394148
|
|
NM_000138.5(FBN1):c.7748A>G (p.Asn2583Ser)
|
rs2042934435
|
|
NM_000138.5(FBN1):c.7752C>G (p.Ile2584Met)
|
rs2042934389
|
|
NM_000138.5(FBN1):c.7760del (p.Gly2587fs)
|
rs1597512677
|
|
NM_000138.5(FBN1):c.7763A>G (p.Tyr2588Cys)
|
rs1566891436
|
|
NM_000138.5(FBN1):c.7765A>G (p.Arg2589Gly)
|
rs111413134
|
|
NM_000138.5(FBN1):c.7768T>G (p.Cys2590Gly)
|
|
|
NM_000138.5(FBN1):c.7769G>A (p.Cys2590Tyr)
|
rs869025416
|
|
NM_000138.5(FBN1):c.776G>T (p.Gly259Val)
|
rs751169871
|
|
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.7776_7819+37delinsTAGCT
|
rs2141220506
|
|
NM_000138.5(FBN1):c.7779C>G (p.Pro2593=)
|
|
|
NM_000138.5(FBN1):c.777_801del (p.Gly260fs)
|
rs2043994986
|
|
NM_000138.5(FBN1):c.7780C>T (p.Gln2594Ter)
|
rs1555394144
|
|
NM_000138.5(FBN1):c.7780del (p.Gln2594fs)
|
rs1555394146
|
|
NM_000138.5(FBN1):c.7784G>A (p.Gly2595Asp)
|
rs397515857
|
|
NM_000138.5(FBN1):c.7785del (p.Tyr2596fs)
|
rs1566891406
|
|
NM_000138.5(FBN1):c.7786_7792del (p.Tyr2596fs)
|
rs2141220647
|
|
NM_000138.5(FBN1):c.7787A>G (p.Tyr2596Cys)
|
rs1566891404
|
|
NM_000138.5(FBN1):c.7788C>A (p.Tyr2596Ter)
|
rs1555394142
|
|
NM_000138.5(FBN1):c.7788C>T (p.Tyr2596=)
|
rs1555394142
|
|
NM_000138.5(FBN1):c.778G>A (p.Gly260Arg)
|
rs2043995400
|
|
NM_000138.5(FBN1):c.7791C>G (p.Leu2597=)
|
|
|
NM_000138.5(FBN1):c.7799A>G (p.Tyr2600Cys)
|
rs2141220639
|
|
NM_000138.5(FBN1):c.7800C>G (p.Tyr2600Ter)
|
rs1404133653
|
|
NM_000138.5(FBN1):c.7800C>T (p.Tyr2600=)
|
rs1404133653
|
|
NM_000138.5(FBN1):c.7801C>T (p.Gln2601Ter)
|
rs1597512600
|
|
NM_000138.5(FBN1):c.7806G>A (p.Trp2602Ter)
|
rs193922236
|
|
NM_000138.5(FBN1):c.7806G>C (p.Trp2602Cys)
|
|
|
NM_000138.5(FBN1):c.7808_7809del (p.Asn2603fs)
|
rs2141220616
|
|
NM_000138.5(FBN1):c.7810C>T (p.Gln2604Ter)
|
rs111496285
|
|
NM_000138.5(FBN1):c.7812G>C (p.Gln2604His)
|
rs2141220609
|
|
NM_000138.5(FBN1):c.7813dup (p.Cys2605fs)
|
rs1555394138
|
|
NM_000138.5(FBN1):c.7817T>A (p.Val2606Asp)
|
rs2141220600
|
|
NM_000138.5(FBN1):c.7817_7819del (p.Val2606del)
|
rs1555394136
|
|
NM_000138.5(FBN1):c.7819+13del
|
|
|
NM_000138.5(FBN1):c.7819+1G>A
|
rs112907302
|
|
NM_000138.5(FBN1):c.7819+1G>T
|
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>T
|
|
|
NM_000138.5(FBN1):c.7819G>A (p.Asp2607Asn)
|
rs1597512576
|
|
NM_000138.5(FBN1):c.7819G>T (p.Asp2607Tyr)
|
rs1597512576
|
|
NM_000138.5(FBN1):c.7820-11T>C
|
|
|
NM_000138.5(FBN1):c.7820-17T>A
|
|
|
NM_000138.5(FBN1):c.7820-1G>C
|
rs1597509836
|
|
NM_000138.5(FBN1):c.7820-3C>G
|
rs193922237
|
|
NM_000138.5(FBN1):c.7820A>G (p.Asp2607Gly)
|
|
|
NM_000138.5(FBN1):c.7822G>T (p.Glu2608Ter)
|
rs1566890005
|
|
NM_000138.5(FBN1):c.7827C>T (p.Asn2609=)
|
|
|
NM_000138.5(FBN1):c.7828G>A (p.Glu2610Lys)
|
rs111984349
|
|
NM_000138.5(FBN1):c.7829A>T (p.Glu2610Val)
|
rs1555393889
|
|
NM_000138.5(FBN1):c.7830A>T (p.Glu2610Asp)
|
rs1597509823
|
|
NM_000138.5(FBN1):c.7832G>A (p.Cys2611Tyr)
|
rs794728337
|
|
NM_000138.5(FBN1):c.7834C>T (p.Leu2612Phe)
|
|
|
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.7840del (p.Ala2614fs)
|
|
|
NM_000138.5(FBN1):c.7842T>A (p.Ala2614=)
|
rs764496589
|
|
NM_000138.5(FBN1):c.7843C>G (p.His2615Asp)
|
rs2042899271
|
|
NM_000138.5(FBN1):c.7850G>A (p.Cys2617Tyr)
|
rs1555393886
|
|
NM_000138.5(FBN1):c.7851C>A (p.Cys2617Ter)
|
rs147019323
|
|
NM_000138.5(FBN1):c.7851C>T (p.Cys2617=)
|
|
|
NM_000138.5(FBN1):c.7852G>T (p.Gly2618Ter)
|
rs141133182
|
|
NM_000138.5(FBN1):c.7856G>A (p.Gly2619Glu)
|
rs113926846
|
|
NM_000138.5(FBN1):c.7863C>T (p.Ser2621=)
|
rs1342441428
|
|
NM_000138.5(FBN1):c.7864T>A (p.Cys2622Ser)
|
rs1555393882
|
|
NM_000138.5(FBN1):c.7864T>C (p.Cys2622Arg)
|
rs1555393882
|
|
NM_000138.5(FBN1):c.7865G>C (p.Cys2622Ser)
|
rs1555393880
|
|
NM_000138.5(FBN1):c.7865G>T (p.Cys2622Phe)
|
|
|
NM_000138.5(FBN1):c.7868A>T (p.His2623Leu)
|
|
|
NM_000138.5(FBN1):c.786C>T (p.Cys262=)
|
rs1597591684
|
|
NM_000138.5(FBN1):c.7871A>G (p.Asn2624Ser)
|
rs113935744
|
|
NM_000138.5(FBN1):c.7876C>G (p.Leu2626Val)
|
rs2042898824
|
|
NM_000138.5(FBN1):c.7877T>A (p.Leu2626Gln)
|
rs794728338
|
|
NM_000138.5(FBN1):c.7879G>A (p.Gly2627Arg)
|
rs193922239
|
|
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.7880G>C (p.Gly2627Ala)
|
rs1555393875
|
|
NM_000138.5(FBN1):c.7880G>T (p.Gly2627Val)
|
rs1555393875
|
|
NM_000138.5(FBN1):c.7881dup (p.Ser2628fs)
|
rs1060501067
|
|
NM_000138.5(FBN1):c.7892G>A (p.Cys2631Tyr)
|
rs111856492
|
|
NM_000138.5(FBN1):c.7892G>T (p.Cys2631Phe)
|
rs111856492
|
|
NM_000138.5(FBN1):c.7895T>C (p.Met2632Thr)
|
|
|
NM_000138.5(FBN1):c.7897T>G (p.Cys2633Gly)
|
rs1555393871
|
|
NM_000138.5(FBN1):c.7898G>C (p.Cys2633Ser)
|
rs193922240
|
|
NM_000138.5(FBN1):c.789T>C (p.Ile263=)
|
rs2141353743
|
|
NM_000138.5(FBN1):c.7905C>T (p.Ala2635=)
|
|
|
NM_000138.5(FBN1):c.7907del (p.Gly2636fs)
|
rs2141214897
|
|
NM_000138.5(FBN1):c.7912C>T (p.Gln2638Ter)
|
rs2141214889
|
|
NM_000138.5(FBN1):c.7914G>T (p.Gln2638His)
|
rs1597509725
|
|
NM_000138.5(FBN1):c.7921C>T (p.Gln2641Ter)
|
rs1555393866
|
|
NM_000138.5(FBN1):c.7931_7937del (p.Gly2644fs)
|
rs1555393862
|
|
NM_000138.5(FBN1):c.7932A>T (p.Gly2644=)
|
rs1597509710
|
|
NM_000138.5(FBN1):c.7936T>A (p.Cys2646Ser)
|
rs1555393863
|
|
NM_000138.5(FBN1):c.7936T>C (p.Cys2646Arg)
|
rs1555393863
|
|
NM_000138.5(FBN1):c.7937G>A (p.Cys2646Tyr)
|
rs1597509701
|
|
NM_000138.5(FBN1):c.793A>T (p.Thr265Ser)
|
rs982468949
|
|
NM_000138.5(FBN1):c.7951G>T (p.Glu2651Ter)
|
rs1555393859
|
|
NM_000138.5(FBN1):c.7954T>A (p.Cys2652Ser)
|
rs1555393858
|
|
NM_000138.5(FBN1):c.7954T>C (p.Cys2652Arg)
|
rs1555393858
|
|
NM_000138.5(FBN1):c.7955G>A (p.Cys2652Tyr)
|
rs397515859
|
|
NM_000138.5(FBN1):c.7959del (p.Ser2654fs)
|
rs1597509674
|
|
NM_000138.5(FBN1):c.795del (p.Val266fs)
|
rs2141353727
|
|
NM_000138.5(FBN1):c.7962T>C (p.Ser2654=)
|
|
|
NM_000138.5(FBN1):c.7966C>T (p.Gln2656Ter)
|
rs2141214772
|
|
NM_000138.5(FBN1):c.796_810del (p.Val266_Glu270del)
|
|
|
NM_000138.5(FBN1):c.7970C>T (p.Ala2657Val)
|
|
|
NM_000138.5(FBN1):c.7972C>G (p.Pro2658Ala)
|
rs1555393851
|
|
NM_000138.5(FBN1):c.7974del (p.Cys2659fs)
|
rs1555393848
|
|
NM_000138.5(FBN1):c.7974dup (p.Cys2659fs)
|
rs1555393848
|
|
NM_000138.5(FBN1):c.7975T>G (p.Cys2659Gly)
|
rs1555393847
|
|
NM_000138.5(FBN1):c.7976_7977delinsTT (p.Cys2659Phe)
|
|
|
NM_000138.5(FBN1):c.7977C>A (p.Cys2659Ter)
|
rs1555393844
|
|
NM_000138.5(FBN1):c.7979G>A (p.Ser2660Asn)
|
rs2141214726
|
|
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.7983T>A (p.Tyr2661Ter)
|
rs2141214712
|
|
NM_000138.5(FBN1):c.7987T>C (p.Cys2663Arg)
|
rs1566889870
|
|
NM_000138.5(FBN1):c.7987_8004del (p.Cys2663_Gly2668del)
|
rs1597509607
|
|
NM_000138.5(FBN1):c.7988G>A (p.Cys2663Tyr)
|
rs1597509631
|
|
NM_000138.5(FBN1):c.7988G>C (p.Cys2663Ser)
|
rs1597509631
|
|
NM_000138.5(FBN1):c.7988G>T (p.Cys2663Phe)
|
rs1597509631
|
|
NM_000138.5(FBN1):c.7991C>G (p.Ser2664Cys)
|
rs2042896586
|
|
NM_000138.5(FBN1):c.7991C>T (p.Ser2664Phe)
|
rs2042896586
|
|
NM_000138.5(FBN1):c.7994A>G (p.Asn2665Ser)
|
rs763173031
|
|
NM_000138.5(FBN1):c.7999G>T (p.Glu2667Ter)
|
rs149062442
|
|
NM_000138.5(FBN1):c.799G>C (p.Gly267Arg)
|
rs2141353715
|
|
NM_000138.5(FBN1):c.799_805del (p.Gly267fs)
|
rs1060501100
|
|
NM_000138.5(FBN1):c.7C>T (p.Arg3Ter)
|
rs886038797
|
|
NM_000138.5(FBN1):c.8002G>T (p.Gly2668Cys)
|
rs1057521100
|
|
NM_000138.5(FBN1):c.8005G>T (p.Gly2669Cys)
|
rs794728281
|
|
NM_000138.5(FBN1):c.8006G>T (p.Gly2669Val)
|
rs886038869
|
|
NM_000138.5(FBN1):c.8008_8009insCACCCTCGGTAACCTGTGTGGTAATA (p.Tyr2670fs)
|
rs2141214637
|
|
NM_000138.5(FBN1):c.8009A>G (p.Tyr2670Cys)
|
rs794728339
|
|
NM_000138.5(FBN1):c.8009A>T (p.Tyr2670Phe)
|
rs794728339
|
|
NM_000138.5(FBN1):c.8009del (p.Tyr2670fs)
|
rs2141214634
|
|
NM_000138.5(FBN1):c.8011C>T (p.Leu2671=)
|
rs886051244
|
|
NM_000138.5(FBN1):c.8011_8012del (p.Leu2671fs)
|
rs2141214616
|
|
NM_000138.5(FBN1):c.8012T>C (p.Leu2671Pro)
|
rs2141214610
|
|
NM_000138.5(FBN1):c.8014T>C (p.Cys2672Arg)
|
rs1555393833
|
|
NM_000138.5(FBN1):c.8014T>G (p.Cys2672Gly)
|
rs1555393833
|
|
NM_000138.5(FBN1):c.8015G>A (p.Cys2672Tyr)
|
rs1555393831
|
|
NM_000138.5(FBN1):c.8015G>C (p.Cys2672Ser)
|
rs1555393831
|
|
NM_000138.5(FBN1):c.8015G>T (p.Cys2672Phe)
|
rs1555393831
|
|
NM_000138.5(FBN1):c.8016_8017insAG (p.Gly2673fs)
|
rs2141214595
|
|
NM_000138.5(FBN1):c.801del (p.Ser268fs)
|
rs1060501050
|
|
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.8029_8030insACAGTAACCACCTG (p.Gly2677fs)
|
|
|
NM_000138.5(FBN1):c.802T>C (p.Ser268Pro)
|
|
|
NM_000138.5(FBN1):c.8032dup (p.Tyr2678fs)
|
rs2042895751
|
|
NM_000138.5(FBN1):c.8034C>T (p.Tyr2678=)
|
rs1597509559
|
|
NM_000138.5(FBN1):c.8037C>T (p.Phe2679=)
|
|
|
NM_000138.5(FBN1):c.8038C>T (p.Arg2680Cys)
|
rs794728283
|
|
NM_000138.5(FBN1):c.8040dup (p.Ile2681fs)
|
|
|
NM_000138.5(FBN1):c.8041A>G (p.Ile2681Val)
|
|
|
NM_000138.5(FBN1):c.8042T>G (p.Ile2681Arg)
|
rs1555393825
|
|
NM_000138.5(FBN1):c.8047C>T (p.Gln2683Ter)
|
rs2141214520
|
|
NM_000138.5(FBN1):c.8051+10G>T
|
rs1007432990
|
|
NM_000138.5(FBN1):c.8051+18T>C
|
|
|
NM_000138.5(FBN1):c.8051+1G>A
|
rs2141214507
|
|
NM_000138.5(FBN1):c.8051+2T>A
|
rs2141214505
|
|
NM_000138.5(FBN1):c.8051+375G>T
|
rs1060501062
|
|
NM_000138.5(FBN1):c.8051+3_8051+9del
|
rs2141214499
|
|
NM_000138.5(FBN1):c.8052-10T>G
|
|
|
NM_000138.5(FBN1):c.8052-13C>T
|
|
|
NM_000138.5(FBN1):c.8052-14C>A
|
|
|
NM_000138.5(FBN1):c.8052-1G>A
|
|
|
NM_000138.5(FBN1):c.8052-2A>G
|
|
|
NM_000138.5(FBN1):c.8052-5T>C
|
|
|
NM_000138.5(FBN1):c.8052-6_8052-3del
|
rs2141211838
|
|
NM_000138.5(FBN1):c.8054A>G (p.His2685Arg)
|
rs1555393666
|
|
NM_000138.5(FBN1):c.8056T>C (p.Cys2686Arg)
|
rs1566889188
|
|
NM_000138.5(FBN1):c.8057G>A (p.Cys2686Tyr)
|
|
|
NM_000138.5(FBN1):c.8057G>T (p.Cys2686Phe)
|
rs2141211820
|
|
NM_000138.5(FBN1):c.8058T>A (p.Cys2686Ter)
|
|
|
NM_000138.5(FBN1):c.8059G>T (p.Val2687Phe)
|
rs1464168530
|
|
NM_000138.5(FBN1):c.8059_8060del (p.Val2687fs)
|
rs2042873946
|
|
NM_000138.5(FBN1):c.8069T>A (p.Met2690Lys)
|
rs747476726
|
|
NM_000138.5(FBN1):c.8069T>C (p.Met2690Thr)
|
rs747476726
|
|
NM_000138.5(FBN1):c.806T>C (p.Phe269Ser)
|
rs951026080
|
|
NM_000138.5(FBN1):c.8073C>T (p.Gly2691=)
|
|
|
NM_000138.5(FBN1):c.8080C>T (p.Arg2694Ter)
|
rs200309328
|
|
NM_000138.5(FBN1):c.8080del (p.Arg2694fs)
|
|
|
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.8087del (p.Asn2696fs)
|
rs1060501065
|
|
NM_000138.5(FBN1):c.8089C>A (p.Pro2697Thr)
|
|
|
NM_000138.5(FBN1):c.808G>C (p.Glu270Gln)
|
rs2043994842
|
|
NM_000138.5(FBN1):c.8090_8099del (p.Pro2697fs)
|
|
|
NM_000138.5(FBN1):c.8092G>T (p.Glu2698Ter)
|
rs1597507783
|
|
NM_000138.5(FBN1):c.8098C>T (p.Pro2700Ser)
|
|
|
NM_000138.5(FBN1):c.8099C>T (p.Pro2700Leu)
|
rs886038782
|
|
NM_000138.5(FBN1):c.8101G>A (p.Val2701Ile)
|
rs753925682
|
|
NM_000138.5(FBN1):c.8101_8102del (p.Val2701fs)
|
rs1597507763
|
|
NM_000138.5(FBN1):c.8103C>T (p.Val2701=)
|
rs1340105891
|
|
NM_000138.5(FBN1):c.8103_8104insT (p.Ser2702Ter)
|
rs2141211736
|
|
NM_000138.5(FBN1):c.8108G>T (p.Gly2703Val)
|
rs794728284
|
|
NM_000138.5(FBN1):c.8108del (p.Gly2703fs)
|
|
|
NM_000138.5(FBN1):c.810G>A (p.Glu270=)
|
|
|
NM_000138.5(FBN1):c.8118del (p.Asp2706fs)
|
rs2141211729
|
|
NM_000138.5(FBN1):c.811T>G (p.Cys271Gly)
|
rs1060501019
|
|
NM_000138.5(FBN1):c.8121C>A (p.Asp2707Glu)
|
rs1566889147
|
|
NM_000138.5(FBN1):c.8121C>T (p.Asp2707=)
|
rs1566889147
|
|
NM_000138.5(FBN1):c.8128C>T (p.Leu2710Phe)
|
rs1342786403
|
|
NM_000138.5(FBN1):c.8129T>C (p.Leu2710Pro)
|
rs1297376845
|
|
NM_000138.5(FBN1):c.8136A>G (p.Pro2712=)
|
|
|
NM_000138.5(FBN1):c.8137G>A (p.Glu2713Lys)
|
rs2141211697
|
|
NM_000138.5(FBN1):c.8138A>G (p.Glu2713Gly)
|
rs1555393658
|
|
NM_000138.5(FBN1):c.8139G>A (p.Glu2713=)
|
rs2141211689
|
|
NM_000138.5(FBN1):c.8140G>A (p.Ala2714Thr)
|
rs766170041
|
|
NM_000138.5(FBN1):c.8140G>T (p.Ala2714Ser)
|
|
|
NM_000138.5(FBN1):c.8140del (p.Ala2714fs)
|
|
|
NM_000138.5(FBN1):c.8144G>A (p.Cys2715Tyr)
|
rs1597507716
|
|
NM_000138.5(FBN1):c.8144G>C (p.Cys2715Ser)
|
rs1597507716
|
|
NM_000138.5(FBN1):c.8145T>A (p.Cys2715Ter)
|
rs1597507712
|
|
NM_000138.5(FBN1):c.8147dup (p.Tyr2716Ter)
|
rs1555393657
|
|
NM_000138.5(FBN1):c.8148C>G (p.Tyr2716Ter)
|
rs112642323
|
|
NM_000138.5(FBN1):c.8148C>T (p.Tyr2716=)
|
rs112642323
|
|
NM_000138.5(FBN1):c.8148_8149insA (p.Glu2717fs)
|
rs1555393653
|
|
NM_000138.5(FBN1):c.8149G>T (p.Glu2717Ter)
|
rs187553035
|
|
NM_000138.5(FBN1):c.814delinsTGGACACAATGCCCTGCTGGACACAAACTT (p.Lys272fs)
|
rs1597591643
|
|
NM_000138.5(FBN1):c.8154dup (p.Lys2719Ter)
|
rs794728321
|
|
NM_000138.5(FBN1):c.8157G>A (p.Lys2719=)
|
rs2042872810
|
|
NM_000138.5(FBN1):c.816A>G (p.Lys272=)
|
|
|
NM_000138.5(FBN1):c.8173A>T (p.Lys2725Ter)
|
rs1555393652
|
|
NM_000138.5(FBN1):c.8176del (p.Arg2726fs)
|
|
|
NM_000138.5(FBN1):c.8181C>T (p.Gly2727=)
|
|
|
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.8195G>A (p.Ser2732Asn)
|
rs2042872305
|
|
NM_000138.5(FBN1):c.819C>A (p.Cys273Ter)
|
|
|
NM_000138.5(FBN1):c.819C>T (p.Cys273=)
|
|
|
NM_000138.5(FBN1):c.8203G>A (p.Glu2735Lys)
|
|
|
NM_000138.5(FBN1):c.8203del (p.Glu2735fs)
|
rs193922241
|
|
NM_000138.5(FBN1):c.8213C>A (p.Ala2738Asp)
|
rs2042871947
|
|
NM_000138.5(FBN1):c.8219_8225dup (p.Asp2743fs)
|
|
|
NM_000138.5(FBN1):c.821C>A (p.Pro274His)
|
rs1085307537
|
|
NM_000138.5(FBN1):c.8222T>C (p.Ile2741Thr)
|
|
|
NM_000138.5(FBN1):c.8223C>G (p.Ile2741Met)
|
rs150065311
|
|
NM_000138.5(FBN1):c.8226+12G>A
|
rs2141211477
|
|
NM_000138.5(FBN1):c.8226+1G>A
|
rs398122833
|
|
NM_000138.5(FBN1):c.8226+1G>T
|
rs398122833
|
|
NM_000138.5(FBN1):c.8226+5G>A
|
rs193922243
|
|
NM_000138.5(FBN1):c.8226+5G>T
|
rs193922243
|
|
NM_000138.5(FBN1):c.8226G>T (p.Glu2742Asp)
|
rs1060501045
|
|
NM_000138.5(FBN1):c.8227-12G>A
|
|
|
NM_000138.5(FBN1):c.8227-13T>C
|
|
|
NM_000138.5(FBN1):c.8227-5dup
|
|
|
NM_000138.5(FBN1):c.8227-6T>C
|
rs1198254608
|
|
NM_000138.5(FBN1):c.8232G>C (p.Gln2744His)
|
rs376119827
|
|
NM_000138.5(FBN1):c.8233T>G (p.Ser2745Ala)
|
|
|
NM_000138.5(FBN1):c.8235T>C (p.Ser2745=)
|
|
|
NM_000138.5(FBN1):c.8235dup (p.Glu2746Ter)
|
rs2141210158
|
|
NM_000138.5(FBN1):c.823G>A (p.Ala275Thr)
|
rs1345051744
|
|
NM_000138.5(FBN1):c.8240_8241del (p.Thr2747fs)
|
|
|
NM_000138.5(FBN1):c.8242G>T (p.Glu2748Ter)
|
|
|
NM_000138.5(FBN1):c.8247C>T (p.Ala2749=)
|
rs1555393567
|
|
NM_000138.5(FBN1):c.8249A>G (p.Asn2750Ser)
|
rs763816801
|
|
NM_000138.5(FBN1):c.8252_8253dup (p.Ser2752Ter)
|
rs1555393565
|
|
NM_000138.5(FBN1):c.8256T>C (p.Ser2752=)
|
rs2141210112
|
|
NM_000138.5(FBN1):c.8259del (p.Ala2754fs)
|
rs1597506905
|
|
NM_000138.5(FBN1):c.8260del (p.Ala2754fs)
|
|
|
NM_000138.5(FBN1):c.8265_8266delinsAGGA (p.Ser2755fs)
|
rs727504651
|
|
NM_000138.5(FBN1):c.8267G>A (p.Trp2756Ter)
|
rs397515861
|
|
NM_000138.5(FBN1):c.8267G>C (p.Trp2756Ser)
|
rs397515861
|
|
NM_000138.5(FBN1):c.8268G>A (p.Trp2756Ter)
|
rs267606796
|
|
NM_000138.5(FBN1):c.8270A>G (p.Asp2757Gly)
|
rs1060501088
|
|
NM_000138.5(FBN1):c.8270A>T (p.Asp2757Val)
|
rs1060501088
|
|
NM_000138.5(FBN1):c.8277G>A (p.Glu2759=)
|
rs1597506888
|
|
NM_000138.5(FBN1):c.8282del (p.Thr2761fs)
|
|
|
NM_000138.5(FBN1):c.8285C>A (p.Ala2762Asp)
|
|
|
NM_000138.5(FBN1):c.8293G>A (p.Ala2765Thr)
|
|
|
NM_000138.5(FBN1):c.8297del (p.Phe2766fs)
|
|
|
NM_000138.5(FBN1):c.830A>T (p.His277Leu)
|
|
|
NM_000138.5(FBN1):c.8312_8327dup (p.Arg2776_Ile2777insGlnTer)
|
rs2141210000
|
|
NM_000138.5(FBN1):c.8312dup (p.Ser2772fs)
|
rs1555393560
|
|
NM_000138.5(FBN1):c.831del (p.His277fs)
|
rs2043994405
|
|
NM_000138.5(FBN1):c.8323del (p.Val2775fs)
|
rs2141210009
|
|
NM_000138.5(FBN1):c.8329del (p.Ile2777fs)
|
rs1566888689
|
|
NM_000138.5(FBN1):c.8330T>A (p.Ile2777Asn)
|
rs1555393556
|
|
NM_000138.5(FBN1):c.8330T>C (p.Ile2777Thr)
|
rs1555393556
|
|
NM_000138.5(FBN1):c.8333T>G (p.Leu2778Arg)
|
rs1555393553
|
|
NM_000138.5(FBN1):c.8335G>T (p.Glu2779Ter)
|
rs1555393551
|
|
NM_000138.5(FBN1):c.8336A>C (p.Glu2779Ala)
|
|
|
NM_000138.5(FBN1):c.8338dup (p.Leu2780fs)
|
rs2042860621
|
|
NM_000138.5(FBN1):c.8339T>C (p.Leu2780Pro)
|
rs869025417
|
|
NM_000138.5(FBN1):c.8347G>C (p.Ala2783Pro)
|
rs2141209966
|
|
NM_000138.5(FBN1):c.8348C>A (p.Ala2783Asp)
|
rs2141209965
|
|
NM_000138.5(FBN1):c.8356A>G (p.Thr2786Ala)
|
rs781352764
|
|
NM_000138.5(FBN1):c.8359C>G (p.Leu2787Val)
|
|
|
NM_000138.5(FBN1):c.835C>G (p.Leu279Val)
|
|
|
NM_000138.5(FBN1):c.8369A>G (p.His2790Arg)
|
rs1271078955
|
|
NM_000138.5(FBN1):c.8371A>C (p.Asn2791His)
|
|
|
NM_000138.5(FBN1):c.8377T>C (p.Tyr2793His)
|
rs113722038
|
|
NM_000138.5(FBN1):c.8378A>G (p.Tyr2793Cys)
|
rs397515863
|
|
NM_000138.5(FBN1):c.8384T>A (p.Ile2795Asn)
|
rs2042859661
|
|
NM_000138.5(FBN1):c.8385C>A (p.Ile2795=)
|
rs138574576
|
|
NM_000138.5(FBN1):c.8393G>A (p.Gly2798Glu)
|
rs1060501049
|
|
NM_000138.5(FBN1):c.8396del (p.Asn2799fs)
|
rs1555393540
|
|
NM_000138.5(FBN1):c.8398dup (p.Glu2800fs)
|
rs2141209879
|
|
NM_000138.5(FBN1):c.8401G>C (p.Asp2801His)
|
rs868087455
|
|
NM_000138.5(FBN1):c.8402A>G (p.Asp2801Gly)
|
|
|
NM_000138.5(FBN1):c.8405G>A (p.Gly2802Asp)
|
rs770484928
|
|
NM_000138.5(FBN1):c.8405G>T (p.Gly2802Val)
|
|
|
NM_000138.5(FBN1):c.8409C>G (p.Phe2803Leu)
|
|
|
NM_000138.5(FBN1):c.8412_8417del (p.Lys2805_Ile2806del)
|
rs193922246
|
|
NM_000138.5(FBN1):c.8416dup (p.Ile2806fs)
|
rs1555393538
|
|
NM_000138.5(FBN1):c.8417T>A (p.Ile2806Asn)
|
rs2141209854
|
|
NM_000138.5(FBN1):c.841_842insT (p.Glu281fs)
|
rs886039034
|
|
NM_000138.5(FBN1):c.8423A>G (p.Gln2808Arg)
|
|
|
NM_000138.5(FBN1):c.8428del (p.Glu2810fs)
|
rs1555393535
|
|
NM_000138.5(FBN1):c.8432G>A (p.Gly2811Glu)
|
rs2042858918
|
|
NM_000138.5(FBN1):c.8435T>C (p.Ile2812Thr)
|
rs2042858844
|
|
NM_000138.5(FBN1):c.8437A>T (p.Ser2813Cys)
|
rs2042858812
|
|
NM_000138.5(FBN1):c.8438G>A (p.Ser2813Asn)
|
|
|
NM_000138.5(FBN1):c.843A>T (p.Glu281Asp)
|
rs772218768
|
|
NM_000138.5(FBN1):c.8442C>A (p.Tyr2814Ter)
|
|
|
NM_000138.5(FBN1):c.8444T>A (p.Leu2815His)
|
rs113170280
|
|
NM_000138.5(FBN1):c.8444T>C (p.Leu2815Pro)
|
|
|
NM_000138.5(FBN1):c.8447A>C (p.His2816Pro)
|
rs1555393532
|
|
NM_000138.5(FBN1):c.8456dup (p.Lys2820fs)
|
rs2141209783
|
|
NM_000138.5(FBN1):c.846G>A (p.Val282=)
|
rs2043994063
|
|
NM_000138.5(FBN1):c.8471C>A (p.Ala2824Asp)
|
rs1060501084
|
|
NM_000138.5(FBN1):c.8473_8475del (p.Gly2825del)
|
rs727504454
|
|
NM_000138.5(FBN1):c.8474G>T (p.Gly2825Val)
|
|
|
NM_000138.5(FBN1):c.8477C>G (p.Thr2826Ser)
|
rs748384979
|
|
NM_000138.5(FBN1):c.8477_8478insATAG (p.Thr2826_Tyr2827insTer)
|
rs2042858025
|
|
NM_000138.5(FBN1):c.8478del (p.Tyr2827fs)
|
|
|
NM_000138.5(FBN1):c.8479del (p.Tyr2827fs)
|
rs1555393525
|
|
NM_000138.5(FBN1):c.8480A>C (p.Tyr2827Ser)
|
rs794728287
|
|
NM_000138.5(FBN1):c.8483C>A (p.Ser2828Ter)
|
|
|
NM_000138.5(FBN1):c.8483C>G (p.Ser2828Ter)
|
rs397515864
|
|
NM_000138.5(FBN1):c.8488C>T (p.Gln2830Ter)
|
rs886038795
|
|
NM_000138.5(FBN1):c.8491A>T (p.Ile2831Phe)
|
rs1555393524
|
|
NM_000138.5(FBN1):c.8491del (p.Ile2831fs)
|
|
|
NM_000138.5(FBN1):c.8492T>G (p.Ile2831Ser)
|
rs1555393523
|
|
NM_000138.5(FBN1):c.8496T>C (p.Ser2832=)
|
rs1216871823
|
|
NM_000138.5(FBN1):c.8497A>G (p.Ser2833Gly)
|
|
|
NM_000138.5(FBN1):c.8499del (p.Ser2833fs)
|
rs2141209667
|
|
NM_000138.5(FBN1):c.849A>G (p.Ser283=)
|
rs2141353586
|
|
NM_000138.5(FBN1):c.8500A>G (p.Thr2834Ala)
|
rs1284038548
|
|
NM_000138.5(FBN1):c.8506C>T (p.Leu2836Phe)
|
|
|
NM_000138.5(FBN1):c.8507T>A (p.Leu2836His)
|
rs2141209638
|
|
NM_000138.5(FBN1):c.8512A>T (p.Lys2838Ter)
|
rs1597506641
|
|
NM_000138.5(FBN1):c.8512_8526A[5]GAAAGAACTTGGAGGAGGAGCCAAGATGGCCGAATAGGAACAGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAACTT[1] (p.Asn2843delinsGlyGlyGlyAlaLysMetAlaGluTer)
|
|
|
NM_000138.5(FBN1):c.8516dup (p.Lys2840fs)
|
rs1555393514
|
|
NM_000138.5(FBN1):c.8521G>A (p.Glu2841Lys)
|
rs587782948
|
|
NM_000138.5(FBN1):c.8521G>T (p.Glu2841Ter)
|
rs587782948
|
|
NM_000138.5(FBN1):c.8522A>T (p.Glu2841Val)
|
|
|
NM_000138.5(FBN1):c.8523A>T (p.Glu2841Asp)
|
|
|
NM_000138.5(FBN1):c.8525_8529del (p.Leu2842fs)
|
rs1064794130
|
|
NM_000138.5(FBN1):c.8530C>T (p.Gln2844Ter)
|
rs1555393510
|
|
NM_000138.5(FBN1):c.8536G>A (p.Glu2846Lys)
|
rs1555393508
|
|
NM_000138.5(FBN1):c.8536G>C (p.Glu2846Gln)
|
rs1555393508
|
|
NM_000138.5(FBN1):c.8536G>T (p.Glu2846Ter)
|
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.8544A>C (p.Lys2848Asn)
|
rs2042856933
|
|
NM_000138.5(FBN1):c.8544del (p.Lys2848fs)
|
rs794728323
|
|
NM_000138.5(FBN1):c.8544dup (p.Tyr2849fs)
|
rs794728323
|
|
NM_000138.5(FBN1):c.8546_8547del (p.Lys2848_Tyr2849insTer)
|
|
|
NM_000138.5(FBN1):c.8554_8561delinsTATCAC (p.Asp2852fs)
|
rs2141209520
|
|
NM_000138.5(FBN1):c.8555A>G (p.Asp2852Gly)
|
rs773653099
|
|
NM_000138.5(FBN1):c.8557T>C (p.Tyr2853His)
|
|
|
NM_000138.5(FBN1):c.855del (p.Lys285fs)
|
rs2141353573
|
|
NM_000138.5(FBN1):c.8561del (p.Leu2854fs)
|
rs1060501033
|
|
NM_000138.5(FBN1):c.8562del (p.Ser2855fs)
|
|
|
NM_000138.5(FBN1):c.8576del (p.Gly2859fs)
|
rs2141209492
|
|
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.8586G>A (p.Leu2862=)
|
rs2042856515
|
|
NM_000138.5(FBN1):c.8591T>A (p.Met2864Lys)
|
rs1060501028
|
|
NM_000138.5(FBN1):c.8591T>C (p.Met2864Thr)
|
rs1060501028
|
|
NM_000138.5(FBN1):c.8592G>A (p.Met2864Ile)
|
|
|
NM_000138.5(FBN1):c.8596dup (p.Ile2866fs)
|
rs1597506547
|
|
NM_000138.5(FBN1):c.8597T>A (p.Ile2866Asn)
|
rs1597506544
|
|
NM_000138.5(FBN1):c.859G>A (p.Glu287Lys)
|
|
|
NM_000138.5(FBN1):c.859G>T (p.Glu287Ter)
|
rs1597591602
|
|
NM_000138.5(FBN1):c.8600A>C (p.Gln2867Pro)
|
rs397515865
|
|
NM_000138.5(FBN1):c.8601G>A (p.Gln2867=)
|
rs2141209442
|
|
NM_000138.5(FBN1):c.8605_8606del (p.Leu2869fs)
|
rs397515866
|
|
NM_000138.5(FBN1):c.860A>G (p.Glu287Gly)
|
rs1555401454
|
|
NM_000138.5(FBN1):c.862+13A>C
|
rs2043993776
|
|
NM_000138.5(FBN1):c.862+14T>G
|
|
|
NM_000138.5(FBN1):c.862G>A (p.Asp288Asn)
|
|
|
NM_000138.5(FBN1):c.863-10del
|
rs748672558
|
|
NM_000138.5(FBN1):c.863-10dup
|
rs748672558
|
|
NM_000138.5(FBN1):c.863-2A>G
|
|
|
NM_000138.5(FBN1):c.863-7A>G
|
rs771131700
|
|
NM_000138.5(FBN1):c.865A>G (p.Ile289Val)
|
|
|
NM_000138.5(FBN1):c.868G>T (p.Asp290Tyr)
|
|
|
NM_000138.5(FBN1):c.871G>T (p.Glu291Ter)
|
rs1232880706
|
|
NM_000138.5(FBN1):c.872A>T (p.Glu291Val)
|
|
|
NM_000138.5(FBN1):c.87G>T (p.Leu29Phe)
|
|
|
NM_000138.5(FBN1):c.890G>A (p.Gly297Glu)
|
|
|
NM_000138.5(FBN1):c.897_898del (p.Cys299_Glu300delinsTer)
|
rs2141343447
|
|
NM_000138.5(FBN1):c.8G>A (p.Arg3Gln)
|
rs149929989
|
|
NM_000138.5(FBN1):c.902G>C (p.Gly301Ala)
|
rs142888621
|
|
NM_000138.5(FBN1):c.905G>A (p.Gly302Asp)
|
|
|
NM_000138.5(FBN1):c.905G>T (p.Gly302Val)
|
rs779866501
|
|
NM_000138.5(FBN1):c.905del (p.Gly302fs)
|
rs2043913021
|
|
NM_000138.5(FBN1):c.907G>A (p.Glu303Lys)
|
rs1566919661
|
|
NM_000138.5(FBN1):c.90G>T (p.Glu30Asp)
|
rs778831047
|
|
NM_000138.5(FBN1):c.916_919del (p.Asn306fs)
|
rs1597587532
|
|
NM_000138.5(FBN1):c.917del (p.Asn306fs)
|
rs1064793637
|
|
NM_000138.5(FBN1):c.920_921del (p.Thr307fs)
|
|
|
NM_000138.5(FBN1):c.925del (p.Ser309fs)
|
rs2141343395
|
|
NM_000138.5(FBN1):c.928A>C (p.Ser310Arg)
|
|
|
NM_000138.5(FBN1):c.929G>C (p.Ser310Thr)
|
|
|
NM_000138.5(FBN1):c.933C>G (p.Tyr311Ter)
|
rs2141343382
|
|
NM_000138.5(FBN1):c.936T>C (p.Phe312=)
|
|
|
NM_000138.5(FBN1):c.937T>C (p.Cys313Arg)
|
rs2141343372
|
|
NM_000138.5(FBN1):c.938G>T (p.Cys313Phe)
|
rs2141343367
|
|
NM_000138.5(FBN1):c.939C>G (p.Cys313Trp)
|
rs1555401007
|
|
NM_000138.5(FBN1):c.943T>C (p.Cys315Arg)
|
|
|
NM_000138.5(FBN1):c.945del (p.Pro317fs)
|
rs2141343351
|
|
NM_000138.5(FBN1):c.946C>A (p.Pro316Thr)
|
rs756687172
|
|
NM_000138.5(FBN1):c.947C>A (p.Pro316His)
|
|
|
NM_000138.5(FBN1):c.948C>A (p.Pro316=)
|
|
|
NM_000138.5(FBN1):c.953del (p.Gly318fs)
|
|
|
NM_000138.5(FBN1):c.958dup (p.Tyr320fs)
|
rs397515867
|
|
NM_000138.5(FBN1):c.959dup (p.Tyr320Ter)
|
rs1555401005
|
|
NM_000138.5(FBN1):c.960C>A (p.Tyr320Ter)
|
rs1555401004
|
|
NM_000138.5(FBN1):c.961_962del (p.Thr321fs)
|
rs1555401002
|
|
NM_000138.5(FBN1):c.962C>T (p.Thr321Ile)
|
rs2043911873
|
|
NM_000138.5(FBN1):c.963C>G (p.Thr321=)
|
rs767914958
|
|
NM_000138.5(FBN1):c.972T>C (p.Asp324=)
|
|
|
NM_000138.5(FBN1):c.974_983del (p.Gly325fs)
|
rs1566919599
|
|
NM_000138.5(FBN1):c.978del (p.Arg327fs)
|
rs1060501094
|
|
NM_000138.5(FBN1):c.979A>G (p.Arg327Gly)
|
rs1597587453
|
|
NM_000138.5(FBN1):c.988+13A>G
|
|
|
NM_000138.5(FBN1):c.988+14C>A
|
|
|
NM_000138.5(FBN1):c.988+16A>G
|
|
|
NM_000138.5(FBN1):c.988+16A>T
|
|
|
NM_000138.5(FBN1):c.988+16_988+26del
|
|
|
NM_000138.5(FBN1):c.988+20G>T
|
rs375760654
|
|
NM_000138.5(FBN1):c.989-10T>A
|
|
|
NM_000138.5(FBN1):c.989-1G>C
|
rs1555400616
|
|
NM_000138.5(FBN1):c.989-20A>G
|
|
|
NM_000138.5(FBN1):c.989-8G>A
|
|
|
NM_000138.5(FBN1):c.98A>G (p.Asn33Ser)
|
rs2140787661
|
|
NM_000138.5(FBN1):c.991G>A (p.Val331Ile)
|
|
|
NM_000138.5(FBN1):c.992T>A (p.Val331Asp)
|
|
|
NM_000138.5(FBN1):c.995G>T (p.Arg332Leu)
|
rs748929044
|
|
NM_000138.5(FBN1):c.997_1032del (p.Pro333_Arg344del)
|
rs2043846857
|
|
NM_000138.5:c.(7204+1_7205-1)_(7819+1_7820-1)del
|
|
|
NM_000393.5(COL5A2):c.2795T>C (p.Leu932Pro)
|
rs730880067
|
|
NM_000393.5(COL5A2):c.407C>T (p.Pro136Leu)
|
rs863223502
|
|
NM_000428.3(LTBP2):c.1642C>T (p.Arg548Ter)
|
rs137854855
|
|
NM_000428.3(LTBP2):c.4720+7G>A
|
rs137854885
|
|
NM_001032283.3(TMPO):c.105C>T (p.Asp35=)
|
|
|
NM_001032283.3(TMPO):c.108G>C (p.Val36=)
|
|
|
NM_001032283.3(TMPO):c.111C>T (p.Tyr37=)
|
rs1299226116
|
|
NM_001032283.3(TMPO):c.114C>A (p.Val38=)
|
|
|
NM_001032283.3(TMPO):c.117G>C (p.Gln39His)
|
rs1285673694
|
|
NM_001032283.3(TMPO):c.137C>G (p.Thr46Arg)
|
rs776416936
|
|
NM_001032283.3(TMPO):c.150G>A (p.Arg50=)
|
|
|
NM_001032283.3(TMPO):c.152C>T (p.Pro51Leu)
|
|
|
NM_001032283.3(TMPO):c.170C>A (p.Thr57Asn)
|
|
|
NM_001032283.3(TMPO):c.170C>G (p.Thr57Ser)
|
|
|
NM_001032283.3(TMPO):c.170C>T (p.Thr57Ile)
|
|
|
NM_001032283.3(TMPO):c.174C>G (p.Asn58Lys)
|
|
|
NM_001032283.3(TMPO):c.185C>T (p.Pro62Leu)
|
rs746863579
|
|
NM_001032283.3(TMPO):c.186C>T (p.Pro62=)
|
|
|
NM_001032283.3(TMPO):c.210G>T (p.Glu70Asp)
|
|
|
NM_001032283.3(TMPO):c.221C>T (p.Thr74Ile)
|
|
|
NM_001032283.3(TMPO):c.229C>T (p.Leu77Phe)
|
|
|
NM_001032283.3(TMPO):c.231C>T (p.Leu77=)
|
|
|
NM_001032283.3(TMPO):c.234C>G (p.Gly78=)
|
rs753917997
|
|
NM_001032283.3(TMPO):c.234C>T (p.Gly78=)
|
rs753917997
|
|
NM_001032283.3(TMPO):c.236C>T (p.Ser79Phe)
|
|
|
NM_001032283.3(TMPO):c.251C>T (p.Ala84Val)
|
|
|
NM_001032283.3(TMPO):c.256C>G (p.Arg86Gly)
|
rs1875778307
|
|
NM_001032283.3(TMPO):c.267A>T (p.Ala89=)
|
rs1055056946
|
|
NM_001032283.3(TMPO):c.272T>C (p.Val91Ala)
|
|
|
NM_001032283.3(TMPO):c.273C>A (p.Val91=)
|
|
|
NM_001032283.3(TMPO):c.274G>A (p.Gly92Ser)
|
|
|
NM_001032283.3(TMPO):c.278G>A (p.Arg93Lys)
|
rs1555201635
|
|
NM_001032283.3(TMPO):c.279+14dup
|
rs749108666
|
|
NM_001032283.3(TMPO):c.279+16C>T
|
rs1010758415
|
|
NM_001032283.3(TMPO):c.279+17G>A
|
|
|
NM_001032283.3(TMPO):c.279+4A>C
|
rs1875782829
|
|
NM_001032283.3(TMPO):c.279G>A (p.Arg93=)
|
rs759987514
|
|
NM_001032283.3(TMPO):c.280-11T>G
|
|
|
NM_001032283.3(TMPO):c.280-13A>G
|
|
|
NM_001032283.3(TMPO):c.280-13A>T
|
|
|
NM_001032283.3(TMPO):c.280-18A>G
|
|
|
NM_001032283.3(TMPO):c.280-4A>G
|
|
|
NM_001032283.3(TMPO):c.284C>T (p.Ala95Val)
|
|
|
NM_001032283.3(TMPO):c.287C>T (p.Thr96Ile)
|
|
|
NM_001032283.3(TMPO):c.306C>T (p.Pro102=)
|
|
|
NM_001032283.3(TMPO):c.308G>C (p.Arg103Thr)
|
|
|
NM_001032283.3(TMPO):c.324T>A (p.Asp108Glu)
|
|
|
NM_001032283.3(TMPO):c.357T>G (p.Asp119Glu)
|
rs765524061
|
|
NM_001032283.3(TMPO):c.365A>T (p.Asp122Val)
|
rs904567500
|
|
NM_001032283.3(TMPO):c.36A>G (p.Thr12=)
|
|
|
NM_001032283.3(TMPO):c.373G>A (p.Val125Met)
|
rs1325674217
|
|
NM_001032283.3(TMPO):c.380A>G (p.Tyr127Cys)
|
rs1259294108
|
|
NM_001032283.3(TMPO):c.383G>A (p.Gly128Glu)
|
rs886049910
|
|
NM_001032283.3(TMPO):c.386T>G (p.Val129Gly)
|
|
|
NM_001032283.3(TMPO):c.391C>T (p.Pro131Ser)
|
|
|
NM_001032283.3(TMPO):c.396T>A (p.Gly132=)
|
rs397516844
|
|
NM_001032283.3(TMPO):c.399T>C (p.Pro133=)
|
|
|
NM_001032283.3(TMPO):c.400A>C (p.Ile134Leu)
|
|
|
NM_001032283.3(TMPO):c.400A>T (p.Ile134Phe)
|
rs745442874
|
|
NM_001032283.3(TMPO):c.407-4C>T
|
|
|
NM_001032283.3(TMPO):c.423A>G (p.Leu141=)
|
|
|
NM_001032283.3(TMPO):c.429G>A (p.Glu143=)
|
|
|
NM_001032283.3(TMPO):c.441G>A (p.Leu147=)
|
rs2121195450
|
|
NM_001032283.3(TMPO):c.443A>G (p.Lys148Arg)
|
rs2121195483
|
|
NM_001032283.3(TMPO):c.460A>C (p.Thr154Pro)
|
|
|
NM_001032283.3(TMPO):c.462A>G (p.Thr154=)
|
rs2121195654
|
|
NM_001032283.3(TMPO):c.471A>G (p.Arg157=)
|
|
|
NM_001032283.3(TMPO):c.472TCT[1] (p.Ser159del)
|
|
|
NM_001032283.3(TMPO):c.478A>C (p.Thr160Pro)
|
rs770948908
|
|
NM_001032283.3(TMPO):c.478_480del (p.Thr160del)
|
|
|
NM_001032283.3(TMPO):c.479C>T (p.Thr160Ile)
|
|
|
NM_001032283.3(TMPO):c.482C>A (p.Pro161His)
|
|
|
NM_001032283.3(TMPO):c.482C>T (p.Pro161Leu)
|
rs1877210566
|
|
NM_001032283.3(TMPO):c.485T>A (p.Leu162Gln)
|
|
|
NM_001032283.3(TMPO):c.485T>G (p.Leu162Arg)
|
rs2121195897
|
|
NM_001032283.3(TMPO):c.48G>A (p.Leu16=)
|
rs2121092959
|
|
NM_001032283.3(TMPO):c.493A>G (p.Ile165Val)
|
|
|
NM_001032283.3(TMPO):c.503CAG[1] (p.Ala169del)
|
|
|
NM_001032283.3(TMPO):c.506C>G (p.Ala169Gly)
|
|
|
NM_001032283.3(TMPO):c.519G>A (p.Arg173=)
|
|
|
NM_001032283.3(TMPO):c.528A>G (p.Gly176=)
|
|
|
NM_001032283.3(TMPO):c.52A>G (p.Ser18Gly)
|
rs2121093002
|
|
NM_001032283.3(TMPO):c.565+1005A>G
|
|
|
NM_001032283.3(TMPO):c.565+1007A>G
|
|
|
NM_001032283.3(TMPO):c.565+1017A>G
|
|
|
NM_001032283.3(TMPO):c.565+1018C>G
|
|
|
NM_001032283.3(TMPO):c.565+1026A>G
|
rs1447801243
|
|
NM_001032283.3(TMPO):c.565+1033C>T
|
rs747066370
|
|
NM_001032283.3(TMPO):c.565+1048G>A
|
rs1877293542
|
|
NM_001032283.3(TMPO):c.565+1048G>C
|
|
|
NM_001032283.3(TMPO):c.565+1062_565+1063delinsTT
|
|
|
NM_001032283.3(TMPO):c.565+1069G>A
|
|
|
NM_001032283.3(TMPO):c.565+1106C>A
|
rs757659026
|
|
NM_001032283.3(TMPO):c.565+1108G>A
|
|
|
NM_001032283.3(TMPO):c.565+1114C>T
|
rs754944353
|
|
NM_001032283.3(TMPO):c.565+1120G>C
|
|
|
NM_001032283.3(TMPO):c.565+1127C>G
|
rs777779709
|
|
NM_001032283.3(TMPO):c.565+1127C>T
|
rs777779709
|
|
NM_001032283.3(TMPO):c.565+1128G>T
|
|
|
NM_001032283.3(TMPO):c.565+1154T>C
|
|
|
NM_001032283.3(TMPO):c.565+1161A>G
|
rs2121202826
|
|
NM_001032283.3(TMPO):c.565+1168A>T
|
rs370585407
|
|
NM_001032283.3(TMPO):c.565+1179G>T
|
|
|
NM_001032283.3(TMPO):c.565+1199C>T
|
rs2121203040
|
|
NM_001032283.3(TMPO):c.565+1220G>A
|
|
|
NM_001032283.3(TMPO):c.565+1257T>C
|
rs1877309895
|
|
NM_001032283.3(TMPO):c.565+1260A>C
|
rs779869644
|
|
NM_001032283.3(TMPO):c.565+1272del
|
|
|
NM_001032283.3(TMPO):c.565+1273A>G
|
rs146158243
|
|
NM_001032283.3(TMPO):c.565+1279G>A
|
|
|
NM_001032283.3(TMPO):c.565+1302T>C
|
|
|
NM_001032283.3(TMPO):c.565+1312C>G
|
|
|
NM_001032283.3(TMPO):c.565+1319C>T
|
rs780889526
|
|
NM_001032283.3(TMPO):c.565+1320A>C
|
rs747613142
|
|
NM_001032283.3(TMPO):c.565+1334C>T
|
|
|
NM_001032283.3(TMPO):c.565+1361T>G
|
rs185083543
|
|
NM_001032283.3(TMPO):c.565+1362_565+1363insTCA
|
rs755623404
|
|
NM_001032283.3(TMPO):c.565+1372C>T
|
|
|
NM_001032283.3(TMPO):c.565+1374A>C
|
rs760685984
|
|
NM_001032283.3(TMPO):c.565+1378G>A
|
|
|
NM_001032283.3(TMPO):c.565+1382C>T
|
rs2121204053
|
|
NM_001032283.3(TMPO):c.565+1420A>G
|
|
|
NM_001032283.3(TMPO):c.565+1439A>C
|
rs1877327751
|
|
NM_001032283.3(TMPO):c.565+1448G>A
|
rs1877328100
|
|
NM_001032283.3(TMPO):c.565+1467C>G
|
rs200124801
|
|
NM_001032283.3(TMPO):c.565+1467C>T
|
rs200124801
|
|
NM_001032283.3(TMPO):c.565+1474C>T
|
|
|
NM_001032283.3(TMPO):c.565+1474CT[2]
|
rs1359210478
|
|
NM_001032283.3(TMPO):c.565+1508_565+1509del
|
|
|
NM_001032283.3(TMPO):c.565+1532G>T
|
|
|
NM_001032283.3(TMPO):c.565+1536_565+1543del
|
|
|
NM_001032283.3(TMPO):c.565+1548A>G
|
rs779658294
|
|
NM_001032283.3(TMPO):c.565+1575G>A
|
rs1060502980
|
|
NM_001032283.3(TMPO):c.565+1584G>A
|
rs147002330
|
|
NM_001032283.3(TMPO):c.565+1584G>C
|
rs147002330
|
|
NM_001032283.3(TMPO):c.565+1584G>T
|
|
|
NM_001032283.3(TMPO):c.565+1587G>A
|
|
|
NM_001032283.3(TMPO):c.565+1590G>A
|
|
|
NM_001032283.3(TMPO):c.565+1595T>G
|
|
|
NM_001032283.3(TMPO):c.565+1609C>G
|
|
|
NM_001032283.3(TMPO):c.565+1611A>C
|
|
|
NM_001032283.3(TMPO):c.565+1613C>T
|
|
|
NM_001032283.3(TMPO):c.565+1633T>C
|
|
|
NM_001032283.3(TMPO):c.565+1637A>G
|
|
|
NM_001032283.3(TMPO):c.565+1643A>G
|
|
|
NM_001032283.3(TMPO):c.565+1688G>T
|
rs577869374
|
|
NM_001032283.3(TMPO):c.565+1692C>A
|
rs879040481
|
|
NM_001032283.3(TMPO):c.565+1692C>T
|
rs879040481
|
|
NM_001032283.3(TMPO):c.565+1708C>T
|
|
|
NM_001032283.3(TMPO):c.565+1724G>C
|
|
|
NM_001032283.3(TMPO):c.565+1725T>A
|
|
|
NM_001032283.3(TMPO):c.565+1774C>G
|
rs762576951
|
|
NM_001032283.3(TMPO):c.565+1781C>T
|
|
|
NM_001032283.3(TMPO):c.565+1782G>A
|
rs763388598
|
|
NM_001032283.3(TMPO):c.565+1790G>A
|
|
|
NM_001032283.3(TMPO):c.565+1795C>A
|
rs1877361719
|
|
NM_001032283.3(TMPO):c.565+1807C>G
|
|
|
NM_001032283.3(TMPO):c.565+1808T>C
|
|
|
NM_001032283.3(TMPO):c.565+1813TC[2]
|
rs1877364478
|
|
NM_001032283.3(TMPO):c.565+1814C>G
|
|
|
NM_001032283.3(TMPO):c.565+1817T>C
|
|
|
NM_001032283.3(TMPO):c.565+1826C>T
|
|
|
NM_001032283.3(TMPO):c.565+1872A>G
|
rs1060502979
|
|
NM_001032283.3(TMPO):c.565+1873T>C
|
rs1238424266
|
|
NM_001032283.3(TMPO):c.565+1878G>A
|
rs1877372287
|
|
NM_001032283.3(TMPO):c.565+1880C>A
|
rs1351997207
|
|
NM_001032283.3(TMPO):c.565+1905G>T
|
rs2121207714
|
|
NM_001032283.3(TMPO):c.565+1928del
|
rs1442448525
|
|
NM_001032283.3(TMPO):c.565+1932G>A
|
|
|
NM_001032283.3(TMPO):c.565+1935T>C
|
|
|
NM_001032283.3(TMPO):c.565+1956C>T
|
|
|
NM_001032283.3(TMPO):c.565+1958G>A
|
|
|
NM_001032283.3(TMPO):c.565+1964A>C
|
|
|
NM_001032283.3(TMPO):c.565+1983del
|
|
|
NM_001032283.3(TMPO):c.565+1995G>A
|
|
|
NM_001032283.3(TMPO):c.565+19T>C
|
|
|
NM_001032283.3(TMPO):c.565+2002C>T
|
rs2121208214
|
|
NM_001032283.3(TMPO):c.565+2014C>G
|
rs2121208283
|
|
NM_001032283.3(TMPO):c.565+2019C>A
|
rs764610443
|
|
NM_001032283.3(TMPO):c.565+2022A>G
|
|
|
NM_001032283.3(TMPO):c.565+2026T>C
|
rs1555203926
|
|
NM_001032283.3(TMPO):c.565+2029A>G
|
|
|
NM_001032283.3(TMPO):c.565+2044G>T
|
|
|
NM_001032283.3(TMPO):c.565+2058G>T
|
|
|
NM_001032283.3(TMPO):c.565+2067C>G
|
rs745484180
|
|
NM_001032283.3(TMPO):c.565+2085G>A
|
|
|
NM_001032283.3(TMPO):c.565+2099T>C
|
|
|
NM_001032283.3(TMPO):c.565+2101G>A
|
rs774064196
|
|
NM_001032283.3(TMPO):c.565+2101G>T
|
|
|
NM_001032283.3(TMPO):c.565+2102C>A
|
rs764177808
|
|
NM_001032283.3(TMPO):c.565+2128G>A
|
|
|
NM_001032283.3(TMPO):c.565+2135A>G
|
rs1284474609
|
|
NM_001032283.3(TMPO):c.565+2169A>G
|
|
|
NM_001032283.3(TMPO):c.565+2170C>G
|
|
|
NM_001032283.3(TMPO):c.565+2170C>T
|
|
|
NM_001032283.3(TMPO):c.565+2172C>T
|
rs1565812072
|
|
NM_001032283.3(TMPO):c.565+2173A>T
|
|
|
NM_001032283.3(TMPO):c.565+2175A>G
|
rs1877399544
|
|
NM_001032283.3(TMPO):c.565+2175_565+2176del
|
|
|
NM_001032283.3(TMPO):c.565+2179C>T
|
|
|
NM_001032283.3(TMPO):c.565+2180C>T
|
|
|
NM_001032283.3(TMPO):c.565+2192G>A
|
|
|
NM_001032283.3(TMPO):c.565+2197T>C
|
rs1877401842
|
|
NM_001032283.3(TMPO):c.565+2210T>C
|
|
|
NM_001032283.3(TMPO):c.565+2219T>G
|
|
|
NM_001032283.3(TMPO):c.565+2220G>A
|
|
|
NM_001032283.3(TMPO):c.565+2222A>C
|
|
|
NM_001032283.3(TMPO):c.565+2229C>G
|
|
|
NM_001032283.3(TMPO):c.565+2247C>G
|
rs369379490
|
|
NM_001032283.3(TMPO):c.565+2251C>T
|
|
|
NM_001032283.3(TMPO):c.565+2261G>A
|
rs373227285
|
|
NM_001032283.3(TMPO):c.565+2261G>C
|
|
|
NM_001032283.3(TMPO):c.565+2261G>T
|
rs373227285
|
|
NM_001032283.3(TMPO):c.565+2271C>T
|
|
|
NM_001032283.3(TMPO):c.565+2280A>G
|
rs1877412049
|
|
NM_001032283.3(TMPO):c.565+2281C>T
|
rs1877412433
|
|
NM_001032283.3(TMPO):c.565+2284_565+2285del
|
rs767209319
|
|
NM_001032283.3(TMPO):c.565+2292G>A
|
|
|
NM_001032283.3(TMPO):c.565+2297A>G
|
|
|
NM_001032283.3(TMPO):c.565+2299A>G
|
rs766232053
|
|
NM_001032283.3(TMPO):c.565+2300T>C
|
|
|
NM_001032283.3(TMPO):c.565+2315A>G
|
|
|
NM_001032283.3(TMPO):c.565+2339C>G
|
rs749772850
|
|
NM_001032283.3(TMPO):c.565+2340C>G
|
rs1877418406
|
|
NM_001032283.3(TMPO):c.565+2340C>T
|
|
|
NM_001032283.3(TMPO):c.565+2346A>G
|
rs1565812255
|
|
NM_001032283.3(TMPO):c.565+2353A>G
|
rs1335078305
|
|
NM_001032283.3(TMPO):c.565+2357C>T
|
|
|
NM_001032283.3(TMPO):c.565+2362T>C
|
|
|
NM_001032283.3(TMPO):c.565+2367C>G
|
|
|
NM_001032283.3(TMPO):c.565+2369_565+2371del
|
rs755715445
|
|
NM_001032283.3(TMPO):c.565+2381G>C
|
rs1877422962
|
|
NM_001032283.3(TMPO):c.565+2397A>T
|
|
|
NM_001032283.3(TMPO):c.565+2402T>C
|
rs1592947011
|
|
NM_001032283.3(TMPO):c.565+2412A>T
|
|
|
NM_001032283.3(TMPO):c.565+2421C>T
|
rs2121211142
|
|
NM_001032283.3(TMPO):c.565+2425C>T
|
rs1268085556
|
|
NM_001032283.3(TMPO):c.565+2426T>C
|
rs1877426910
|
|
NM_001032283.3(TMPO):c.565+2460G>A
|
|
|
NM_001032283.3(TMPO):c.565+2461_565+2463del
|
rs727503491
|
|
NM_001032283.3(TMPO):c.565+2472A>C
|
rs1877431244
|
|
NM_001032283.3(TMPO):c.565+2474A>C
|
rs2121211551
|
|
NM_001032283.3(TMPO):c.565+2481A>G
|
|
|
NM_001032283.3(TMPO):c.565+995A>C
|
|
|
NM_001032283.3(TMPO):c.565+995_565+998del
|
rs747695132
|
|
NM_001032283.3(TMPO):c.565+9T>G
|
|
|
NM_001032283.3(TMPO):c.5C>T (p.Pro2Leu)
|
|
|
NM_001032283.3(TMPO):c.63C>A (p.Val21=)
|
|
|
NM_001032283.3(TMPO):c.66C>T (p.Ala22=)
|
rs1875748424
|
|
NM_001110556.2(FLNA):c.6199G>A (p.Glu2067Lys)
|
rs1557176102
|
|
NM_001135599.4:c.595_1245del
|
|
|
NM_001407129.1(TGFBR2):c.-109C>T
|
rs1697919506
|
|
NM_001844.5(COL2A1):c.3435+4_3435+7del
|
|
|
NM_001999.4(FBN2):c.*100A>C
|
rs886059890
|
|
NM_001999.4(FBN2):c.*1050GTT[6]
|
rs886059885
|
|
NM_001999.4(FBN2):c.*1102G>A
|
rs1764871127
|
|
NM_001999.4(FBN2):c.*1111C>A
|
rs886059884
|
|
NM_001999.4(FBN2):c.*1111C>T
|
rs886059884
|
|
NM_001999.4(FBN2):c.*1420A>C
|
rs886059882
|
|
NM_001999.4(FBN2):c.*1420_*1421dup
|
rs143731656
|
|
NM_001999.4(FBN2):c.*1507A>G
|
rs1764860915
|
|
NM_001999.4(FBN2):c.*284C>T
|
rs886059888
|
|
NM_001999.4(FBN2):c.*322_*323dup
|
rs536242166
|
|
NM_001999.4(FBN2):c.*323dup
|
rs536242166
|
|
NM_001999.4(FBN2):c.*372del
|
rs544546746
|
|
NM_001999.4(FBN2):c.*557C>T
|
rs886059887
|
|
NM_001999.4(FBN2):c.*686C>T
|
rs1764882009
|
|
NM_001999.4(FBN2):c.*716A>G
|
rs1581169601
|
|
NM_001999.4(FBN2):c.*93TAA[2]
|
rs199925656
|
|
NM_001999.4(FBN2):c.*962C>G
|
rs565071757
|
|
NM_001999.4(FBN2):c.-173G>A
|
rs1044506328
|
|
NM_001999.4(FBN2):c.-173G>C
|
rs1044506328
|
|
NM_001999.4(FBN2):c.-190C>G
|
rs998131843
|
|
NM_001999.4(FBN2):c.-430A>C
|
rs1756908339
|
|
NM_001999.4(FBN2):c.1007A>G (p.Asn336Ser)
|
rs1752993803
|
|
NM_001999.4(FBN2):c.1012G>T (p.Val338Leu)
|
|
|
NM_001999.4(FBN2):c.1014G>A (p.Val338=)
|
|
|
NM_001999.4(FBN2):c.1018A>G (p.Ser340Gly)
|
|
|
NM_001999.4(FBN2):c.1019G>A (p.Ser340Asn)
|
|
|
NM_001999.4(FBN2):c.102G>A (p.Pro34=)
|
|
|
NM_001999.4(FBN2):c.1030G>T (p.Val344Phe)
|
|
|
NM_001999.4(FBN2):c.1038A>G (p.Pro346=)
|
|
|
NM_001999.4(FBN2):c.104C>T (p.Pro35Leu)
|
rs2112810970
|
|
NM_001999.4(FBN2):c.1053C>T (p.Thr351=)
|
rs1554067080
|
|
NM_001999.4(FBN2):c.1061A>T (p.Asp354Val)
|
|
|
NM_001999.4(FBN2):c.1069C>T (p.Arg357Ter)
|
rs1752991946
|
|
NM_001999.4(FBN2):c.1070G>T (p.Arg357Leu)
|
|
|
NM_001999.4(FBN2):c.1072T>C (p.Cys358Arg)
|
|
|
NM_001999.4(FBN2):c.1075A>G (p.Ile359Val)
|
|
|
NM_001999.4(FBN2):c.1078+10G>A
|
|
|
NM_001999.4(FBN2):c.1078+5G>A
|
rs1752991507
|
|
NM_001999.4(FBN2):c.1078+9C>G
|
rs371692018
|
|
NM_001999.4(FBN2):c.1078G>C (p.Asp360His)
|
|
|
NM_001999.4(FBN2):c.1079-7T>C
|
|
|
NM_001999.4(FBN2):c.1079-9C>T
|
|
|
NM_001999.4(FBN2):c.107A>G (p.Lys36Arg)
|
|
|
NM_001999.4(FBN2):c.10A>G (p.Arg4Gly)
|
|
|
NM_001999.4(FBN2):c.1107C>T (p.Gly369=)
|
rs1060503505
|
|
NM_001999.4(FBN2):c.1119C>A (p.Gly373=)
|
rs1554066145
|
|
NM_001999.4(FBN2):c.111G>C (p.Pro37=)
|
|
|
NM_001999.4(FBN2):c.1121G>A (p.Arg374His)
|
|
|
NM_001999.4(FBN2):c.112C>T (p.Pro38Ser)
|
|
|
NM_001999.4(FBN2):c.1145G>C (p.Arg382Thr)
|
|
|
NM_001999.4(FBN2):c.1156A>G (p.Met386Val)
|
|
|
NM_001999.4(FBN2):c.115C>A (p.Arg39=)
|
rs763202121
|
|
NM_001999.4(FBN2):c.116_130dup (p.Pro43_Pro44insArgProGlnProPro)
|
|
|
NM_001999.4(FBN2):c.1171G>A (p.Glu391Lys)
|
rs137852826
|
|
NM_001999.4(FBN2):c.117G>T (p.Arg39=)
|
|
|
NM_001999.4(FBN2):c.117del (p.Gln41fs)
|
|
|
NM_001999.4(FBN2):c.1189G>A (p.Gly397Ser)
|
|
|
NM_001999.4(FBN2):c.118C>T (p.Pro40Ser)
|
rs2112810915
|
|
NM_001999.4(FBN2):c.1194C>A (p.Ile398=)
|
|
|
NM_001999.4(FBN2):c.1200C>A (p.Thr400=)
|
|
|
NM_001999.4(FBN2):c.1209dup (p.Ala404fs)
|
rs1752614082
|
|
NM_001999.4(FBN2):c.120C>T (p.Pro40=)
|
|
|
NM_001999.4(FBN2):c.1231+12G>A
|
|
|
NM_001999.4(FBN2):c.1231+15G>A
|
|
|
NM_001999.4(FBN2):c.1231+19G>A
|
|
|
NM_001999.4(FBN2):c.1232-6T>C
|
rs1581260490
|
|
NM_001999.4(FBN2):c.1232-8T>C
|
|
|
NM_001999.4(FBN2):c.1236A>G (p.Glu412=)
|
|
|
NM_001999.4(FBN2):c.1241G>A (p.Arg414His)
|
|
|
NM_001999.4(FBN2):c.1275A>T (p.Gly425=)
|
|
|
NM_001999.4(FBN2):c.1278T>G (p.Ile426Met)
|
rs1752569770
|
|
NM_001999.4(FBN2):c.1280C>T (p.Pro427Leu)
|
|
|
NM_001999.4(FBN2):c.1281A>G (p.Pro427=)
|
|
|
NM_001999.4(FBN2):c.1288G>T (p.Ala430Ser)
|
|
|
NM_001999.4(FBN2):c.1295C>A (p.Ser432Tyr)
|
|
|
NM_001999.4(FBN2):c.1316del (p.Gly439fs)
|
|
|
NM_001999.4(FBN2):c.132G>A (p.Pro44=)
|
rs199702573
|
|
NM_001999.4(FBN2):c.132G>T (p.Pro44=)
|
|
|
NM_001999.4(FBN2):c.1330C>G (p.Pro444Ala)
|
|
|
NM_001999.4(FBN2):c.1340A>G (p.Asn447Ser)
|
rs1554066013
|
|
NM_001999.4(FBN2):c.134A>C (p.Gln45Pro)
|
|
|
NM_001999.4(FBN2):c.134A>T (p.Gln45Leu)
|
rs774411616
|
|
NM_001999.4(FBN2):c.1351_1356del (p.Tyr451_Gly452del)
|
rs730880109
|
|
NM_001999.4(FBN2):c.135A>G (p.Gln45=)
|
rs1182394348
|
|
NM_001999.4(FBN2):c.1364G>A (p.Gly455Glu)
|
|
|
NM_001999.4(FBN2):c.1364G>C (p.Gly455Ala)
|
|
|
NM_001999.4(FBN2):c.1380C>T (p.Pro460=)
|
|
|
NM_001999.4(FBN2):c.1382T>A (p.Ile461Asn)
|
|
|
NM_001999.4(FBN2):c.1386T>C (p.Pro462=)
|
rs778468050
|
|
NM_001999.4(FBN2):c.1398C>T (p.Gly466=)
|
rs1554066010
|
|
NM_001999.4(FBN2):c.1411G>C (p.Val471Leu)
|
rs138046782
|
|
NM_001999.4(FBN2):c.1421C>G (p.Ala474Gly)
|
|
|
NM_001999.4(FBN2):c.1423G>C (p.Gly475Arg)
|
rs200440156
|
|
NM_001999.4(FBN2):c.1437G>A (p.Gly479=)
|
|
|
NM_001999.4(FBN2):c.1438G>A (p.Gly480Arg)
|
|
|
NM_001999.4(FBN2):c.1439G>A (p.Gly480Glu)
|
|
|
NM_001999.4(FBN2):c.1443G>A (p.Gln481=)
|
rs923812426
|
|
NM_001999.4(FBN2):c.1443G>C (p.Gln481His)
|
rs923812426
|
|
NM_001999.4(FBN2):c.1452C>T (p.Ile484=)
|
|
|
NM_001999.4(FBN2):c.1456A>T (p.Thr486Ser)
|
|
|
NM_001999.4(FBN2):c.1458T>A (p.Thr486=)
|
|
|
NM_001999.4(FBN2):c.1465+17C>T
|
|
|
NM_001999.4(FBN2):c.1466-12A>G
|
|
|
NM_001999.4(FBN2):c.1466-17G>T
|
rs2126977471
|
|
NM_001999.4(FBN2):c.1466-19G>T
|
|
|
NM_001999.4(FBN2):c.1466-5del
|
|
|
NM_001999.4(FBN2):c.1473G>C (p.Leu491=)
|
|
|
NM_001999.4(FBN2):c.147C>A (p.Ser49=)
|
|
|
NM_001999.4(FBN2):c.147C>T (p.Ser49=)
|
rs1194404343
|
|
NM_001999.4(FBN2):c.1489A>G (p.Ile497Val)
|
|
|
NM_001999.4(FBN2):c.1490T>C (p.Ile497Thr)
|
|
|
NM_001999.4(FBN2):c.1491C>G (p.Ile497Met)
|
rs1158937805
|
|
NM_001999.4(FBN2):c.1500T>G (p.His500Gln)
|
|
|
NM_001999.4(FBN2):c.1512T>G (p.Leu504=)
|
|
|
NM_001999.4(FBN2):c.1526G>A (p.Arg509His)
|
rs199587570
|
|
NM_001999.4(FBN2):c.152C>G (p.Thr51Arg)
|
rs1060503509
|
|
NM_001999.4(FBN2):c.1537A>G (p.Thr513Ala)
|
|
|
NM_001999.4(FBN2):c.1543T>A (p.Ser515Thr)
|
rs528255772
|
|
NM_001999.4(FBN2):c.1567A>G (p.Met523Val)
|
|
|
NM_001999.4(FBN2):c.1586C>A (p.Ala529Glu)
|
|
|
NM_001999.4(FBN2):c.1589A>G (p.Asn530Ser)
|
|
|
NM_001999.4(FBN2):c.1600A>G (p.Ile534Val)
|
rs1752527949
|
|
NM_001999.4(FBN2):c.1601T>C (p.Ile534Thr)
|
rs762032979
|
|
NM_001999.4(FBN2):c.1603+15C>G
|
|
|
NM_001999.4(FBN2):c.1603+19A>G
|
|
|
NM_001999.4(FBN2):c.1603+6T>C
|
rs1752527763
|
|
NM_001999.4(FBN2):c.1603+9G>C
|
rs774984154
|
|
NM_001999.4(FBN2):c.1604-1G>A
|
|
|
NM_001999.4(FBN2):c.1604-7C>T
|
rs2126960298
|
|
NM_001999.4(FBN2):c.1604-8G>C
|
|
|
NM_001999.4(FBN2):c.1612G>A (p.Glu538Lys)
|
rs1561427124
|
|
NM_001999.4(FBN2):c.1614A>G (p.Glu538=)
|
|
|
NM_001999.4(FBN2):c.1616G>T (p.Cys539Phe)
|
rs1456682417
|
|
NM_001999.4(FBN2):c.161C>T (p.Ser54Phe)
|
|
|
NM_001999.4(FBN2):c.1624A>G (p.Asn542Asp)
|
rs781622385
|
|
NM_001999.4(FBN2):c.1626T>A (p.Asn542Lys)
|
rs2126960231
|
|
NM_001999.4(FBN2):c.162T>G (p.Ser54=)
|
|
|
NM_001999.4(FBN2):c.1637A>C (p.Asn546Thr)
|
|
|
NM_001999.4(FBN2):c.1642G>T (p.Asp548Tyr)
|
rs1581251809
|
|
NM_001999.4(FBN2):c.1644T>C (p.Asp548=)
|
|
|
NM_001999.4(FBN2):c.1658C>G (p.Pro553Arg)
|
rs2126960181
|
|
NM_001999.4(FBN2):c.1660G>C (p.Gly554Arg)
|
rs1283833434
|
|
NM_001999.4(FBN2):c.1662T>C (p.Gly554=)
|
rs1400948280
|
|
NM_001999.4(FBN2):c.1681C>T (p.His561Tyr)
|
rs2126960142
|
|
NM_001999.4(FBN2):c.1686T>G (p.Ala562=)
|
rs1581251758
|
|
NM_001999.4(FBN2):c.169G>T (p.Gly57Trp)
|
rs2112810796
|
|
NM_001999.4(FBN2):c.16A>T (p.Arg6Trp)
|
|
|
NM_001999.4(FBN2):c.1717T>C (p.Cys573Arg)
|
rs376737293
|
|
NM_001999.4(FBN2):c.1723+12T>G
|
|
|
NM_001999.4(FBN2):c.1723+3A>G
|
rs2126960065
|
|
NM_001999.4(FBN2):c.1724-14C>A
|
|
|
NM_001999.4(FBN2):c.1724-2A>G
|
rs876661172
|
|
NM_001999.4(FBN2):c.1729G>A (p.Asp577Asn)
|
rs1230736233
|
|
NM_001999.4(FBN2):c.1759A>G (p.Lys587Glu)
|
|
|
NM_001999.4(FBN2):c.175C>T (p.Leu59=)
|
|
|
NM_001999.4(FBN2):c.1760A>G (p.Lys587Arg)
|
rs759733025
|
|
NM_001999.4(FBN2):c.1773C>T (p.Cys591=)
|
rs763629454
|
|
NM_001999.4(FBN2):c.1780A>G (p.Thr594Ala)
|
rs1554064868
|
|
NM_001999.4(FBN2):c.1784A>T (p.Asp595Val)
|
|
|
NM_001999.4(FBN2):c.1797G>A (p.Gln599=)
|
|
|
NM_001999.4(FBN2):c.1797G>T (p.Gln599His)
|
|
|
NM_001999.4(FBN2):c.1799_1800delinsTT (p.Cys600Phe)
|
rs1581251031
|
|
NM_001999.4(FBN2):c.1800delinsTT (p.Ile601fs)
|
|
|
NM_001999.4(FBN2):c.1804del (p.Cys602fs)
|
rs886038824
|
|
NM_001999.4(FBN2):c.1814G>T (p.Gly605Val)
|
rs1581250994
|
|
NM_001999.4(FBN2):c.1831G>A (p.Asp611Asn)
|
|
|
NM_001999.4(FBN2):c.1844G>T (p.Cys615Phe)
|
rs1060503507
|
|
NM_001999.4(FBN2):c.1849+20C>T
|
|
|
NM_001999.4(FBN2):c.1862G>A (p.Cys621Tyr)
|
rs1752093236
|
|
NM_001999.4(FBN2):c.1888G>A (p.Gly630Arg)
|
rs1060503499
|
|
NM_001999.4(FBN2):c.1899del (p.Asn634fs)
|
rs1581250307
|
|
NM_001999.4(FBN2):c.189T>C (p.Tyr63=)
|
rs1435288732
|
|
NM_001999.4(FBN2):c.18G>A (p.Arg6=)
|
|
|
NM_001999.4(FBN2):c.18G>T (p.Arg6Ser)
|
|
|
NM_001999.4(FBN2):c.1901A>G (p.Asn634Ser)
|
rs748715881
|
|
NM_001999.4(FBN2):c.1917C>T (p.Phe639=)
|
|
|
NM_001999.4(FBN2):c.193G>C (p.Glu65Gln)
|
rs1561504900
|
|
NM_001999.4(FBN2):c.1943T>C (p.Val648Ala)
|
|
|
NM_001999.4(FBN2):c.1954A>C (p.Asn652His)
|
rs749765413
|
|
NM_001999.4(FBN2):c.1954A>G (p.Asn652Asp)
|
|
|
NM_001999.4(FBN2):c.1959G>T (p.Gly653=)
|
|
|
NM_001999.4(FBN2):c.1960C>T (p.Arg654Cys)
|
|
|
NM_001999.4(FBN2):c.1972+10G>T
|
|
|
NM_001999.4(FBN2):c.1972+4TG[2]
|
|
|
NM_001999.4(FBN2):c.1973-8C>A
|
|
|
NM_001999.4(FBN2):c.1973-9A>T
|
|
|
NM_001999.4(FBN2):c.1988A>C (p.Gln663Pro)
|
rs863223556
|
|
NM_001999.4(FBN2):c.1990A>G (p.Thr664Ala)
|
rs746408145
|
|
NM_001999.4(FBN2):c.1991C>T (p.Thr664Ile)
|
rs2126954772
|
|
NM_001999.4(FBN2):c.1995A>G (p.Pro665=)
|
|
|
NM_001999.4(FBN2):c.2014C>T (p.His672Tyr)
|
|
|
NM_001999.4(FBN2):c.2030A>G (p.Glu677Gly)
|
rs2126954710
|
|
NM_001999.4(FBN2):c.2034G>T (p.Gly678=)
|
rs1357250229
|
|
NM_001999.4(FBN2):c.2042G>T (p.Arg681Leu)
|
rs548605398
|
|
NM_001999.4(FBN2):c.2045G>A (p.Cys682Tyr)
|
rs1752034896
|
|
NM_001999.4(FBN2):c.2049C>T (p.Asp683=)
|
|
|
NM_001999.4(FBN2):c.2053C>A (p.Pro685Thr)
|
rs141291125
|
|
NM_001999.4(FBN2):c.2054C>T (p.Pro685Leu)
|
rs1581249148
|
|
NM_001999.4(FBN2):c.2056C>T (p.Pro686Ser)
|
rs1752034485
|
|
NM_001999.4(FBN2):c.2060G>A (p.Gly687Asp)
|
|
|
NM_001999.4(FBN2):c.2060G>T (p.Gly687Val)
|
rs769947673
|
|
NM_001999.4(FBN2):c.2065_2066delinsAA (p.Ala689Asn)
|
rs869025430
|
|
NM_001999.4(FBN2):c.2066C>G (p.Ala689Gly)
|
rs781745158
|
|
NM_001999.4(FBN2):c.206C>T (p.Ala69Val)
|
rs1756883252
|
|
NM_001999.4(FBN2):c.2081G>C (p.Gly694Ala)
|
|
|
NM_001999.4(FBN2):c.2089T>C (p.Cys697Arg)
|
|
|
NM_001999.4(FBN2):c.208G>C (p.Val70Leu)
|
rs1756883199
|
|
NM_001999.4(FBN2):c.2092G>T (p.Val698Phe)
|
|
|
NM_001999.4(FBN2):c.2095+1G>A
|
|
|
NM_001999.4(FBN2):c.2095+2_2095+7del
|
rs1752033073
|
|
NM_001999.4(FBN2):c.2095+5G>A
|
rs2126954577
|
|
NM_001999.4(FBN2):c.2095+8A>T
|
|
|
NM_001999.4(FBN2):c.2098A>G (p.Thr700Ala)
|
|
|
NM_001999.4(FBN2):c.209T>A (p.Val70Glu)
|
|
|
NM_001999.4(FBN2):c.2103C>T (p.His701=)
|
rs148920354
|
|
NM_001999.4(FBN2):c.2105T>G (p.Met702Arg)
|
rs2126947635
|
|
NM_001999.4(FBN2):c.2107C>T (p.Arg703Cys)
|
rs748861935
|
|
NM_001999.4(FBN2):c.2108G>T (p.Arg703Leu)
|
|
|
NM_001999.4(FBN2):c.212C>G (p.Ala71Gly)
|
|
|
NM_001999.4(FBN2):c.2132A>G (p.Lys711Arg)
|
rs1006288282
|
|
NM_001999.4(FBN2):c.2140G>A (p.Val714Met)
|
|
|
NM_001999.4(FBN2):c.2148_2151dup (p.Pro718fs)
|
rs2126947501
|
|
NM_001999.4(FBN2):c.2150G>A (p.Arg717His)
|
|
|
NM_001999.4(FBN2):c.2161G>A (p.Gly721Ser)
|
rs149733159
|
|
NM_001999.4(FBN2):c.2161G>C (p.Gly721Arg)
|
rs149733159
|
|
NM_001999.4(FBN2):c.2164G>T (p.Ala722Ser)
|
|
|
NM_001999.4(FBN2):c.216C>T (p.Ser72=)
|
|
|
NM_001999.4(FBN2):c.2171C>T (p.Thr724Ile)
|
|
|
NM_001999.4(FBN2):c.2175G>C (p.Lys725Asn)
|
rs2126947449
|
|
NM_001999.4(FBN2):c.2187C>T (p.Cys729=)
|
|
|
NM_001999.4(FBN2):c.21G>A (p.Leu7=)
|
rs1002853093
|
|
NM_001999.4(FBN2):c.2204A>G (p.Tyr735Cys)
|
rs1199450063
|
|
NM_001999.4(FBN2):c.2227C>T (p.Pro743Ser)
|
rs1554064242
|
|
NM_001999.4(FBN2):c.2236G>A (p.Ala746Thr)
|
|
|
NM_001999.4(FBN2):c.2248+11G>C
|
|
|
NM_001999.4(FBN2):c.2248+4G>A
|
rs752467521
|
|
NM_001999.4(FBN2):c.2249-15C>T
|
|
|
NM_001999.4(FBN2):c.2249-18T>C
|
rs996601598
|
|
NM_001999.4(FBN2):c.2260G>C (p.Gly754Arg)
|
rs145259927
|
|
NM_001999.4(FBN2):c.2302+16C>A
|
|
|
NM_001999.4(FBN2):c.2302+9A>G
|
|
|
NM_001999.4(FBN2):c.2303-18T>G
|
|
|
NM_001999.4(FBN2):c.2303-2A>G
|
rs1751723379
|
|
NM_001999.4(FBN2):c.2326C>T (p.Pro776Ser)
|
|
|
NM_001999.4(FBN2):c.2329G>A (p.Asp777Asn)
|
|
|
NM_001999.4(FBN2):c.2334A>G (p.Ile778Met)
|
|
|
NM_001999.4(FBN2):c.2335T>C (p.Cys779Arg)
|
rs1751722668
|
|
NM_001999.4(FBN2):c.2340C>T (p.Ala780=)
|
rs1060504935
|
|
NM_001999.4(FBN2):c.2356A>C (p.Asn786His)
|
|
|
NM_001999.4(FBN2):c.2359T>A (p.Leu787Ile)
|
rs756348656
|
|
NM_001999.4(FBN2):c.2359T>C (p.Leu787=)
|
|
|
NM_001999.4(FBN2):c.2365G>C (p.Gly789Arg)
|
rs886038969
|
|
NM_001999.4(FBN2):c.2367T>C (p.Gly789=)
|
|
|
NM_001999.4(FBN2):c.2376T>C (p.Arg792=)
|
|
|
NM_001999.4(FBN2):c.2384G>A (p.Cys795Tyr)
|
rs1057524398
|
|
NM_001999.4(FBN2):c.2392G>A (p.Gly798Ser)
|
rs1554063781
|
|
NM_001999.4(FBN2):c.239A>G (p.Gln80Arg)
|
|
|
NM_001999.4(FBN2):c.2406T>A (p.Asp802Glu)
|
rs568169177
|
|
NM_001999.4(FBN2):c.2406T>G (p.Asp802Glu)
|
rs568169177
|
|
NM_001999.4(FBN2):c.2428+12G>T
|
|
|
NM_001999.4(FBN2):c.2428+18T>C
|
rs775383249
|
|
NM_001999.4(FBN2):c.2428+1G>T
|
rs1751719964
|
|
NM_001999.4(FBN2):c.2429-17T>G
|
|
|
NM_001999.4(FBN2):c.2429-1G>A
|
rs1270553787
|
|
NM_001999.4(FBN2):c.2433T>A (p.Ile811=)
|
|
|
NM_001999.4(FBN2):c.2436T>C (p.Asp812=)
|
|
|
NM_001999.4(FBN2):c.2439A>G (p.Glu813=)
|
rs1581241374
|
|
NM_001999.4(FBN2):c.2457G>A (p.Leu819=)
|
rs370465689
|
|
NM_001999.4(FBN2):c.2457G>T (p.Leu819=)
|
|
|
NM_001999.4(FBN2):c.2466T>C (p.Asp822=)
|
|
|
NM_001999.4(FBN2):c.2473T>C (p.Leu825=)
|
|
|
NM_001999.4(FBN2):c.2475G>T (p.Leu825Phe)
|
|
|
NM_001999.4(FBN2):c.2486C>T (p.Thr829Met)
|
|
|
NM_001999.4(FBN2):c.2487G>A (p.Thr829=)
|
rs779455710
|
|
NM_001999.4(FBN2):c.2492G>A (p.Gly831Glu)
|
rs2126937089
|
|
NM_001999.4(FBN2):c.2506A>T (p.Thr836Ser)
|
|
|
NM_001999.4(FBN2):c.2507C>T (p.Thr836Met)
|
rs957177447
|
|
NM_001999.4(FBN2):c.2515C>A (p.Pro839Thr)
|
rs751263399
|
|
NM_001999.4(FBN2):c.251G>A (p.Arg84Gln)
|
rs747084358
|
|
NM_001999.4(FBN2):c.251G>C (p.Arg84Pro)
|
|
|
NM_001999.4(FBN2):c.2530A>G (p.Arg844Gly)
|
|
|
NM_001999.4(FBN2):c.2539A>G (p.Thr847Ala)
|
rs878854474
|
|
NM_001999.4(FBN2):c.254+10C>G
|
|
|
NM_001999.4(FBN2):c.254+14C>G
|
|
|
NM_001999.4(FBN2):c.254+20C>G
|
|
|
NM_001999.4(FBN2):c.254+5G>A
|
|
|
NM_001999.4(FBN2):c.255-3C>G
|
rs2112809259
|
|
NM_001999.4(FBN2):c.2554+5G>T
|
rs2126936993
|
|
NM_001999.4(FBN2):c.2555-20C>G
|
|
|
NM_001999.4(FBN2):c.2556T>C (p.Asp852=)
|
rs2126931519
|
|
NM_001999.4(FBN2):c.2557A>C (p.Ile853Leu)
|
rs148598779
|
|
NM_001999.4(FBN2):c.2557A>G (p.Ile853Val)
|
rs148598779
|
|
NM_001999.4(FBN2):c.256C>T (p.Pro86Ser)
|
|
|
NM_001999.4(FBN2):c.2572A>G (p.Ser858Gly)
|
|
|
NM_001999.4(FBN2):c.2588A>G (p.Asn863Ser)
|
|
|
NM_001999.4(FBN2):c.2592G>A (p.Gly864=)
|
|
|
NM_001999.4(FBN2):c.259A>G (p.Asn87Asp)
|
rs756569459
|
|
NM_001999.4(FBN2):c.2606A>C (p.Asn869Thr)
|
|
|
NM_001999.4(FBN2):c.2611G>C (p.Gly871Arg)
|
rs1751526889
|
|
NM_001999.4(FBN2):c.2615C>A (p.Ser872Tyr)
|
|
|
NM_001999.4(FBN2):c.2621A>G (p.Asn874Ser)
|
|
|
NM_001999.4(FBN2):c.262G>C (p.Val88Leu)
|
|
|
NM_001999.4(FBN2):c.2631T>C (p.Cys877=)
|
|
|
NM_001999.4(FBN2):c.2633C>T (p.Ser878Leu)
|
|
|
NM_001999.4(FBN2):c.2634G>T (p.Ser878=)
|
rs143905167
|
|
NM_001999.4(FBN2):c.2639G>A (p.Gly880Asp)
|
|
|
NM_001999.4(FBN2):c.2645A>G (p.Lys882Arg)
|
rs1168151418
|
|
NM_001999.4(FBN2):c.2646A>G (p.Lys882=)
|
rs1035674949
|
|
NM_001999.4(FBN2):c.2648T>A (p.Leu883His)
|
|
|
NM_001999.4(FBN2):c.264G>T (p.Val88=)
|
rs1167442198
|
|
NM_001999.4(FBN2):c.2674+6A>T
|
rs1381952326
|
|
NM_001999.4(FBN2):c.2674+9del
|
rs2126931306
|
|
NM_001999.4(FBN2):c.2675-20C>T
|
|
|
NM_001999.4(FBN2):c.2676C>G (p.Asp892Glu)
|
|
|
NM_001999.4(FBN2):c.2679C>G (p.Ser893Arg)
|
rs778473524
|
|
NM_001999.4(FBN2):c.2694T>C (p.Cys898=)
|
|
|
NM_001999.4(FBN2):c.2698C>G (p.Leu900Val)
|
rs1057524854
|
|
NM_001999.4(FBN2):c.2701A>G (p.Asn901Asp)
|
|
|
NM_001999.4(FBN2):c.2719T>C (p.Cys907Arg)
|
rs863223599
|
|
NM_001999.4(FBN2):c.2725G>A (p.Val909Met)
|
|
|
NM_001999.4(FBN2):c.2735A>G (p.Asn912Ser)
|
|
|
NM_001999.4(FBN2):c.2736T>C (p.Asn912=)
|
rs760088310
|
|
NM_001999.4(FBN2):c.2740G>T (p.Ala914Ser)
|
rs370312107
|
|
NM_001999.4(FBN2):c.2773G>A (p.Gly925Arg)
|
rs111405756
|
|
NM_001999.4(FBN2):c.2773G>T (p.Gly925Ter)
|
rs111405756
|
|
NM_001999.4(FBN2):c.2779G>A (p.Ala927Thr)
|
rs863223559
|
|
NM_001999.4(FBN2):c.2779G>T (p.Ala927Ser)
|
rs863223559
|
|
NM_001999.4(FBN2):c.2782T>G (p.Trp928Gly)
|
|
|
NM_001999.4(FBN2):c.2787G>A (p.Gly929=)
|
|
|
NM_001999.4(FBN2):c.2791C>T (p.Pro931Ser)
|
rs779579749
|
|
NM_001999.4(FBN2):c.2800C>T (p.Arg934Trp)
|
|
|
NM_001999.4(FBN2):c.2809C>G (p.Leu937Val)
|
|
|
NM_001999.4(FBN2):c.2812+14T>C
|
|
|
NM_001999.4(FBN2):c.2812+9C>A
|
rs751293821
|
|
NM_001999.4(FBN2):c.2813A>G (p.Asp938Gly)
|
|
|
NM_001999.4(FBN2):c.2819C>T (p.Ala940Val)
|
rs1751304507
|
|
NM_001999.4(FBN2):c.2822G>A (p.Cys941Tyr)
|
|
|
NM_001999.4(FBN2):c.2825C>G (p.Pro942Arg)
|
rs1751304438
|
|
NM_001999.4(FBN2):c.2827A>G (p.Arg943Gly)
|
rs863223560
|
|
NM_001999.4(FBN2):c.282C>T (p.His94=)
|
|
|
NM_001999.4(FBN2):c.2839A>C (p.Arg947=)
|
rs752949752
|
|
NM_001999.4(FBN2):c.2839A>G (p.Arg947Gly)
|
|
|
NM_001999.4(FBN2):c.2855C>G (p.Thr952Arg)
|
rs766590294
|
|
NM_001999.4(FBN2):c.2856G>A (p.Thr952=)
|
rs556038110
|
|
NM_001999.4(FBN2):c.2863+13T>G
|
|
|
NM_001999.4(FBN2):c.2863+19G>A
|
|
|
NM_001999.4(FBN2):c.2863+5G>A
|
|
|
NM_001999.4(FBN2):c.2863+9A>G
|
|
|
NM_001999.4(FBN2):c.2864-15T>C
|
|
|
NM_001999.4(FBN2):c.2864-19T>G
|
rs2126919979
|
|
NM_001999.4(FBN2):c.286T>C (p.Tyr96His)
|
|
|
NM_001999.4(FBN2):c.2879A>G (p.Glu960Gly)
|
|
|
NM_001999.4(FBN2):c.287_289del (p.Tyr96del)
|
rs555068280
|
|
NM_001999.4(FBN2):c.2882T>A (p.Val961Glu)
|
rs1025184275
|
|
NM_001999.4(FBN2):c.2886C>T (p.Phe962=)
|
rs972172170
|
|
NM_001999.4(FBN2):c.2890G>T (p.Gly964Cys)
|
rs2126919911
|
|
NM_001999.4(FBN2):c.2891G>A (p.Gly964Asp)
|
rs1554124089
|
|
NM_001999.4(FBN2):c.2892C>T (p.Gly964=)
|
|
|
NM_001999.4(FBN2):c.2909G>A (p.Arg970His)
|
rs368402648
|
|
NM_001999.4(FBN2):c.2909G>T (p.Arg970Leu)
|
|
|
NM_001999.4(FBN2):c.2921_2989+510delinsCATA
|
|
|
NM_001999.4(FBN2):c.2925G>A (p.Lys975=)
|
|
|
NM_001999.4(FBN2):c.2926G>A (p.Gly976Arg)
|
rs1751283602
|
|
NM_001999.4(FBN2):c.2931T>C (p.Ser977=)
|
|
|
NM_001999.4(FBN2):c.2940C>A (p.Cys980Ter)
|
|
|
NM_001999.4(FBN2):c.2945G>A (p.Cys982Tyr)
|
rs1057519321
|
|
NM_001999.4(FBN2):c.2945G>T (p.Cys982Phe)
|
rs1057519321
|
|
NM_001999.4(FBN2):c.2957T>C (p.Leu986Pro)
|
rs1751282501
|
|
NM_001999.4(FBN2):c.295C>G (p.Pro99Ala)
|
rs1756849074
|
|
NM_001999.4(FBN2):c.2961G>A (p.Thr987=)
|
rs760390469
|
|
NM_001999.4(FBN2):c.2968G>A (p.Gly990Arg)
|
rs749854367
|
|
NM_001999.4(FBN2):c.2977C>T (p.Arg993Cys)
|
rs752905724
|
|
NM_001999.4(FBN2):c.2989+13C>A
|
|
|
NM_001999.4(FBN2):c.2990-7G>C
|
rs1245936560
|
|
NM_001999.4(FBN2):c.2993T>A (p.Ile998Asn)
|
|
|
NM_001999.4(FBN2):c.2994T>A (p.Ile998=)
|
|
|
NM_001999.4(FBN2):c.2996G>A (p.Arg999His)
|
rs1342942240
|
|
NM_001999.4(FBN2):c.2997C>T (p.Arg999=)
|
rs1751155993
|
|
NM_001999.4(FBN2):c.3003G>C (p.Glu1001Asp)
|
rs1064797312
|
|
NM_001999.4(FBN2):c.3010T>C (p.Tyr1004His)
|
|
|
NM_001999.4(FBN2):c.3012C>T (p.Tyr1004=)
|
|
|
NM_001999.4(FBN2):c.3018G>A (p.Lys1006=)
|
|
|
NM_001999.4(FBN2):c.3019T>C (p.Trp1007Arg)
|
|
|
NM_001999.4(FBN2):c.3039C>G (p.Ile1013Met)
|
rs1388119592
|
|
NM_001999.4(FBN2):c.3045C>G (p.Pro1015=)
|
rs371640952
|
|
NM_001999.4(FBN2):c.3046G>T (p.Val1016Phe)
|
|
|
NM_001999.4(FBN2):c.3049C>A (p.Pro1017Thr)
|
rs375187779
|
|
NM_001999.4(FBN2):c.3057G>C (p.Lys1019Asn)
|
rs863223561
|
|
NM_001999.4(FBN2):c.3057G>T (p.Lys1019Asn)
|
rs863223561
|
|
NM_001999.4(FBN2):c.3058T>C (p.Phe1020Leu)
|
rs984782865
|
|
NM_001999.4(FBN2):c.305A>G (p.Lys102Arg)
|
rs1756848859
|
|
NM_001999.4(FBN2):c.3062G>A (p.Arg1021His)
|
rs139620380
|
|
NM_001999.4(FBN2):c.3062G>C (p.Arg1021Pro)
|
rs139620380
|
|
NM_001999.4(FBN2):c.3066G>A (p.Met1022Ile)
|
rs952236163
|
|
NM_001999.4(FBN2):c.3092C>A (p.Ala1031Glu)
|
rs754884110
|
|
NM_001999.4(FBN2):c.3093G>C (p.Ala1031=)
|
rs528529593
|
|
NM_001999.4(FBN2):c.309G>T (p.Thr103=)
|
|
|
NM_001999.4(FBN2):c.3106G>C (p.Glu1036Gln)
|
rs773473369
|
|
NM_001999.4(FBN2):c.3107A>G (p.Glu1036Gly)
|
|
|
NM_001999.4(FBN2):c.311T>A (p.Leu104His)
|
|
|
NM_001999.4(FBN2):c.3126A>T (p.Lys1042Asn)
|
|
|
NM_001999.4(FBN2):c.3128C>A (p.Pro1043His)
|
|
|
NM_001999.4(FBN2):c.3145G>C (p.Glu1049Gln)
|
rs771853346
|
|
NM_001999.4(FBN2):c.3147G>A (p.Glu1049=)
|
rs1356177204
|
|
NM_001999.4(FBN2):c.3148A>C (p.Thr1050Pro)
|
|
|
NM_001999.4(FBN2):c.3160C>T (p.Arg1054Cys)
|
rs869025427
|
|
NM_001999.4(FBN2):c.3161G>A (p.Arg1054His)
|
rs753760095
|
|
NM_001999.4(FBN2):c.3161G>T (p.Arg1054Leu)
|
rs753760095
|
|
NM_001999.4(FBN2):c.3162C>A (p.Arg1054=)
|
|
|
NM_001999.4(FBN2):c.3196dup (p.Thr1066fs)
|
rs1554123702
|
|
NM_001999.4(FBN2):c.3198T>G (p.Thr1066=)
|
rs2126913781
|
|
NM_001999.4(FBN2):c.319G>A (p.Gly107Arg)
|
rs2112809157
|
|
NM_001999.4(FBN2):c.3200G>C (p.Gly1067Ala)
|
rs1751146734
|
|
NM_001999.4(FBN2):c.3202C>T (p.Arg1068Trp)
|
|
|
NM_001999.4(FBN2):c.3203G>A (p.Arg1068Gln)
|
rs563921589
|
|
NM_001999.4(FBN2):c.3207A>G (p.Pro1069=)
|
|
|
NM_001999.4(FBN2):c.320G>A (p.Gly107Glu)
|
|
|
NM_001999.4(FBN2):c.3211T>C (p.Tyr1071His)
|
rs2126913738
|
|
NM_001999.4(FBN2):c.3215A>G (p.Lys1072Arg)
|
|
|
NM_001999.4(FBN2):c.3217+12C>A
|
rs375688726
|
|
NM_001999.4(FBN2):c.3217+12C>T
|
|
|
NM_001999.4(FBN2):c.3217+13G>C
|
rs572013507
|
|
NM_001999.4(FBN2):c.3217+19C>T
|
|
|
NM_001999.4(FBN2):c.3217+1G>A
|
rs2126913719
|
|
NM_001999.4(FBN2):c.3217+6T>C
|
|
|
NM_001999.4(FBN2):c.3217+8C>A
|
rs1554123700
|
|
NM_001999.4(FBN2):c.3218-13A>T
|
rs200543836
|
|
NM_001999.4(FBN2):c.3218-4T>C
|
|
|
NM_001999.4(FBN2):c.3218-5T>G
|
rs1554123647
|
|
NM_001999.4(FBN2):c.3219C>T (p.Asp1073=)
|
|
|
NM_001999.4(FBN2):c.3220A>G (p.Ile1074Val)
|
rs1218249269
|
|
NM_001999.4(FBN2):c.3222C>A (p.Ile1074=)
|
rs1345516642
|
|
NM_001999.4(FBN2):c.3228A>C (p.Glu1076Asp)
|
rs1751116346
|
|
NM_001999.4(FBN2):c.3230G>A (p.Cys1077Tyr)
|
|
|
NM_001999.4(FBN2):c.3246G>A (p.Gly1082=)
|
|
|
NM_001999.4(FBN2):c.3259G>C (p.Gly1087Arg)
|
rs1581230766
|
|
NM_001999.4(FBN2):c.3260G>A (p.Gly1087Glu)
|
rs1751115198
|
|
NM_001999.4(FBN2):c.3285C>T (p.Ser1095=)
|
|
|
NM_001999.4(FBN2):c.3290A>G (p.Lys1097Arg)
|
|
|
NM_001999.4(FBN2):c.3293G>A (p.Cys1098Tyr)
|
|
|
NM_001999.4(FBN2):c.3298T>A (p.Cys1100Ser)
|
rs2126912100
|
|
NM_001999.4(FBN2):c.3298T>G (p.Cys1100Gly)
|
|
|
NM_001999.4(FBN2):c.3321C>T (p.Asp1107=)
|
|
|
NM_001999.4(FBN2):c.3322A>G (p.Met1108Val)
|
rs148127874
|
|
NM_001999.4(FBN2):c.3331A>G (p.Arg1111Gly)
|
rs1751112929
|
|
NM_001999.4(FBN2):c.3335A>G (p.Asn1112Ser)
|
|
|
NM_001999.4(FBN2):c.3343+12C>G
|
|
|
NM_001999.4(FBN2):c.3343+12C>T
|
rs2126911962
|
|
NM_001999.4(FBN2):c.3343G>C (p.Asp1115His)
|
rs137852827
|
|
NM_001999.4(FBN2):c.3344-12C>T
|
|
|
NM_001999.4(FBN2):c.3344-13C>A
|
|
|
NM_001999.4(FBN2):c.3344-6A>T
|
|
|
NM_001999.4(FBN2):c.3344A>T (p.Asp1115Val)
|
rs869025428
|
|
NM_001999.4(FBN2):c.3345C>G (p.Asp1115Glu)
|
|
|
NM_001999.4(FBN2):c.3346A>G (p.Ile1116Val)
|
|
|
NM_001999.4(FBN2):c.3351C>G (p.Asp1117Glu)
|
|
|
NM_001999.4(FBN2):c.3352G>A (p.Glu1118Lys)
|
rs1348701377
|
|
NM_001999.4(FBN2):c.3354G>A (p.Glu1118=)
|
|
|
NM_001999.4(FBN2):c.3367C>T (p.Pro1123Ser)
|
rs764719151
|
|
NM_001999.4(FBN2):c.336C>T (p.Val112=)
|
|
|
NM_001999.4(FBN2):c.337+12G>T
|
rs2112809114
|
|
NM_001999.4(FBN2):c.3372C>T (p.Asp1124=)
|
|
|
NM_001999.4(FBN2):c.338-18C>T
|
|
|
NM_001999.4(FBN2):c.338-4A>G
|
rs1756678272
|
|
NM_001999.4(FBN2):c.3384T>C (p.Ser1128=)
|
|
|
NM_001999.4(FBN2):c.3387A>G (p.Gly1129=)
|
|
|
NM_001999.4(FBN2):c.338C>T (p.Pro113Leu)
|
|
|
NM_001999.4(FBN2):c.3390C>A (p.Ile1130=)
|
|
|
NM_001999.4(FBN2):c.3398A>G (p.Asn1133Ser)
|
rs2126903780
|
|
NM_001999.4(FBN2):c.3413T>G (p.Phe1138Cys)
|
|
|
NM_001999.4(FBN2):c.3421G>A (p.Glu1141Lys)
|
|
|
NM_001999.4(FBN2):c.3424T>C (p.Cys1142Arg)
|
rs1750918931
|
|
NM_001999.4(FBN2):c.3424T>G (p.Cys1142Gly)
|
rs1750918931
|
|
NM_001999.4(FBN2):c.3425G>A (p.Cys1142Tyr)
|
|
|
NM_001999.4(FBN2):c.3425G>T (p.Cys1142Phe)
|
rs137852828
|
|
NM_001999.4(FBN2):c.3428T>C (p.Phe1143Ser)
|
rs1750918793
|
|
NM_001999.4(FBN2):c.3429C>A (p.Phe1143Leu)
|
rs886059901
|
|
NM_001999.4(FBN2):c.3437A>G (p.Tyr1146Cys)
|
rs1750918319
|
|
NM_001999.4(FBN2):c.3441A>C (p.Glu1147Asp)
|
rs1750918059
|
|
NM_001999.4(FBN2):c.3446G>C (p.Gly1149Ala)
|
|
|
NM_001999.4(FBN2):c.3451A>G (p.Met1151Val)
|
rs1042256829
|
|
NM_001999.4(FBN2):c.3452T>C (p.Met1151Thr)
|
|
|
NM_001999.4(FBN2):c.3455T>C (p.Met1152Thr)
|
|
|
NM_001999.4(FBN2):c.3456G>A (p.Met1152Ile)
|
rs863223565
|
|
NM_001999.4(FBN2):c.3459GAA[1] (p.Lys1154del)
|
rs1554123139
|
|
NM_001999.4(FBN2):c.3466T>C (p.Cys1156Arg)
|
rs1750917259
|
|
NM_001999.4(FBN2):c.3467G>T (p.Cys1156Phe)
|
rs1206843725
|
|
NM_001999.4(FBN2):c.3469A>G (p.Met1157Val)
|
rs876661190
|
|
NM_001999.4(FBN2):c.3472+1G>A
|
rs1554123136
|
|
NM_001999.4(FBN2):c.3472+2T>C
|
rs2126903614
|
|
NM_001999.4(FBN2):c.3472+3A>G
|
rs1750917005
|
|
NM_001999.4(FBN2):c.3472+9C>T
|
rs372520452
|
|
NM_001999.4(FBN2):c.3473-15G>A
|
|
|
NM_001999.4(FBN2):c.3473-16C>T
|
|
|
NM_001999.4(FBN2):c.3474C>T (p.Asp1158=)
|
|
|
NM_001999.4(FBN2):c.3480C>A (p.Asp1160Glu)
|
|
|
NM_001999.4(FBN2):c.3480C>T (p.Asp1160=)
|
rs142323824
|
|
NM_001999.4(FBN2):c.3481G>A (p.Glu1161Lys)
|
rs1554123065
|
|
NM_001999.4(FBN2):c.3482A>G (p.Glu1161Gly)
|
|
|
NM_001999.4(FBN2):c.3484T>C (p.Cys1162Arg)
|
rs1750894751
|
|
NM_001999.4(FBN2):c.3489A>C (p.Glu1163Asp)
|
|
|
NM_001999.4(FBN2):c.3490C>T (p.Arg1164Cys)
|
rs886039059
|
|
NM_001999.4(FBN2):c.3491G>A (p.Arg1164His)
|
rs1297011367
|
|
NM_001999.4(FBN2):c.3491G>T (p.Arg1164Leu)
|
|
|
NM_001999.4(FBN2):c.3495C>G (p.Asn1165Lys)
|
rs774250442
|
|
NM_001999.4(FBN2):c.349_352del (p.Asn117fs)
|
|
|
NM_001999.4(FBN2):c.3501C>G (p.Leu1167=)
|
rs2126902161
|
|
NM_001999.4(FBN2):c.3505T>C (p.Cys1169Arg)
|
|
|
NM_001999.4(FBN2):c.3507T>C (p.Cys1169=)
|
rs1750894040
|
|
NM_001999.4(FBN2):c.350A>G (p.Asn117Ser)
|
rs1756677980
|
|
NM_001999.4(FBN2):c.3514G>T (p.Gly1172Cys)
|
rs138303817
|
|
NM_001999.4(FBN2):c.3515G>A (p.Gly1172Asp)
|
rs931046977
|
|
NM_001999.4(FBN2):c.3521G>T (p.Cys1174Phe)
|
rs1581226080
|
|
NM_001999.4(FBN2):c.3535G>T (p.Gly1179Cys)
|
|
|
NM_001999.4(FBN2):c.3547T>C (p.Cys1183Arg)
|
|
|
NM_001999.4(FBN2):c.3570G>A (p.Glu1190=)
|
rs2126902008
|
|
NM_001999.4(FBN2):c.3584G>C (p.Arg1195Pro)
|
|
|
NM_001999.4(FBN2):c.3593G>A (p.Cys1198Tyr)
|
rs863223567
|
|
NM_001999.4(FBN2):c.3594T>G (p.Cys1198Trp)
|
|
|
NM_001999.4(FBN2):c.3597G>C (p.Val1199=)
|
|
|
NM_001999.4(FBN2):c.3598+6T>G
|
|
|
NM_001999.4(FBN2):c.3599-13G>T
|
|
|
NM_001999.4(FBN2):c.360A>T (p.Gly120=)
|
|
|
NM_001999.4(FBN2):c.3611G>T (p.Cys1204Phe)
|
rs2126898748
|
|
NM_001999.4(FBN2):c.3614C>A (p.Ser1205Tyr)
|
rs1389689622
|
|
NM_001999.4(FBN2):c.3617T>C (p.Leu1206Pro)
|
rs1581224796
|
|
NM_001999.4(FBN2):c.3626A>G (p.Asn1209Ser)
|
|
|
NM_001999.4(FBN2):c.3632G>A (p.Cys1211Tyr)
|
rs2126898679
|
|
NM_001999.4(FBN2):c.363T>C (p.Asp121=)
|
|
|
NM_001999.4(FBN2):c.3654C>G (p.Asn1218Lys)
|
|
|
NM_001999.4(FBN2):c.3668A>G (p.Tyr1223Cys)
|
|
|
NM_001999.4(FBN2):c.3676T>G (p.Ser1226Ala)
|
rs202072752
|
|
NM_001999.4(FBN2):c.3680G>A (p.Cys1227Tyr)
|
rs1750830797
|
|
NM_001999.4(FBN2):c.3689G>C (p.Gly1230Ala)
|
rs1047464870
|
|
NM_001999.4(FBN2):c.3690A>T (p.Gly1230=)
|
rs774807410
|
|
NM_001999.4(FBN2):c.36C>T (p.Tyr12=)
|
rs1581380471
|
|
NM_001999.4(FBN2):c.3710G>A (p.Arg1237His)
|
rs142185964
|
|
NM_001999.4(FBN2):c.3711C>T (p.Arg1237=)
|
|
|
NM_001999.4(FBN2):c.3713A>T (p.Gln1238Leu)
|
|
|
NM_001999.4(FBN2):c.3715G>A (p.Gly1239Ser)
|
rs778784375
|
|
NM_001999.4(FBN2):c.3718T>G (p.Cys1240Gly)
|
rs1554122897
|
|
NM_001999.4(FBN2):c.3719G>A (p.Cys1240Tyr)
|
rs1554122896
|
|
NM_001999.4(FBN2):c.3724G>A (p.Asp1242Asn)
|
|
|
NM_001999.4(FBN2):c.3725-15A>G
|
rs587776519
|
|
NM_001999.4(FBN2):c.3725-18G>T
|
|
|
NM_001999.4(FBN2):c.3725-3C>T
|
|
|
NM_001999.4(FBN2):c.3727A>G (p.Ile1243Val)
|
|
|
NM_001999.4(FBN2):c.3728T>C (p.Ile1243Thr)
|
rs1306804578
|
|
NM_001999.4(FBN2):c.3736T>C (p.Cys1246Arg)
|
rs1554122857
|
|
NM_001999.4(FBN2):c.3736T>G (p.Cys1246Gly)
|
rs1554122857
|
|
NM_001999.4(FBN2):c.3737G>A (p.Cys1246Tyr)
|
|
|
NM_001999.4(FBN2):c.3752G>A (p.Gly1251Glu)
|
rs767644891
|
|
NM_001999.4(FBN2):c.3758G>A (p.Cys1253Tyr)
|
rs137852825
|
|
NM_001999.4(FBN2):c.3759T>G (p.Cys1253Trp)
|
rs28931602
|
|
NM_001999.4(FBN2):c.3761A>G (p.Asp1254Gly)
|
rs1750812827
|
|
NM_001999.4(FBN2):c.3769T>G (p.Cys1257Gly)
|
rs1750812513
|
|
NM_001999.4(FBN2):c.3770G>A (p.Cys1257Tyr)
|
|
|
NM_001999.4(FBN2):c.3773C>G (p.Thr1258Arg)
|
|
|
NM_001999.4(FBN2):c.3776A>T (p.Asn1259Ile)
|
rs1554122848
|
|
NM_001999.4(FBN2):c.3777T>A (p.Asn1259Lys)
|
rs267606802
|
|
NM_001999.4(FBN2):c.3778T>C (p.Ser1260Pro)
|
|
|
NM_001999.4(FBN2):c.3783G>C (p.Glu1261Asp)
|
|
|
NM_001999.4(FBN2):c.3784G>A (p.Gly1262Arg)
|
|
|
NM_001999.4(FBN2):c.3786A>C (p.Gly1262=)
|
|
|
NM_001999.4(FBN2):c.3790T>A (p.Tyr1264Asn)
|
|
|
NM_001999.4(FBN2):c.3803G>C (p.Cys1268Ser)
|
rs1750811749
|
|
NM_001999.4(FBN2):c.3803G>T (p.Cys1268Phe)
|
rs1750811749
|
|
NM_001999.4(FBN2):c.3814T>A (p.Tyr1272Asn)
|
|
|
NM_001999.4(FBN2):c.3815A>C (p.Tyr1272Ser)
|
|
|
NM_001999.4(FBN2):c.382A>G (p.Asn128Asp)
|
|
|
NM_001999.4(FBN2):c.3830A>T (p.Asp1277Val)
|
|
|
NM_001999.4(FBN2):c.3835A>G (p.Arg1279Gly)
|
rs1561776564
|
|
NM_001999.4(FBN2):c.3847+5A>G
|
rs1444917250
|
|
NM_001999.4(FBN2):c.3848-10G>A
|
rs140017238
|
|
NM_001999.4(FBN2):c.3848-10G>T
|
rs140017238
|
|
NM_001999.4(FBN2):c.3849C>T (p.Asp1283=)
|
rs983684093
|
|
NM_001999.4(FBN2):c.3866A>G (p.Asn1289Ser)
|
|
|
NM_001999.4(FBN2):c.3869A>G (p.Asn1290Ser)
|
rs747182286
|
|
NM_001999.4(FBN2):c.3871C>A (p.Pro1291Thr)
|
|
|
NM_001999.4(FBN2):c.3878T>C (p.Ile1293Thr)
|
rs1750804361
|
|
NM_001999.4(FBN2):c.3885T>C (p.Asp1295=)
|
|
|
NM_001999.4(FBN2):c.3888C>T (p.Gly1296=)
|
|
|
NM_001999.4(FBN2):c.3889G>T (p.Gly1297Cys)
|
rs755489065
|
|
NM_001999.4(FBN2):c.3900C>A (p.Thr1300=)
|
|
|
NM_001999.4(FBN2):c.3900C>T (p.Thr1300=)
|
rs754193286
|
|
NM_001999.4(FBN2):c.3907C>A (p.Pro1303Thr)
|
rs2126896759
|
|
NM_001999.4(FBN2):c.3909T>C (p.Pro1303=)
|
|
|
NM_001999.4(FBN2):c.3960G>T (p.Met1320Ile)
|
rs1554122803
|
|
NM_001999.4(FBN2):c.3967T>C (p.Cys1323Arg)
|
|
|
NM_001999.4(FBN2):c.3967T>G (p.Cys1323Gly)
|
rs1581223990
|
|
NM_001999.4(FBN2):c.3968G>C (p.Cys1323Ser)
|
|
|
NM_001999.4(FBN2):c.3973+17A>G
|
|
|
NM_001999.4(FBN2):c.3973+7A>G
|
|
|
NM_001999.4(FBN2):c.3973G>A (p.Asp1325Asn)
|
rs1554122802
|
|
NM_001999.4(FBN2):c.3974-19T>A
|
rs112950479
|
|
NM_001999.4(FBN2):c.3974-26T>G
|
rs2126895611
|
|
NM_001999.4(FBN2):c.3974-3T>A
|
|
|
NM_001999.4(FBN2):c.3974-7T>G
|
|
|
NM_001999.4(FBN2):c.3974-9A>G
|
|
|
NM_001999.4(FBN2):c.3982G>A (p.Glu1328Lys)
|
|
|
NM_001999.4(FBN2):c.3984A>T (p.Glu1328Asp)
|
rs1394998823
|
|
NM_001999.4(FBN2):c.3986G>A (p.Cys1329Tyr)
|
rs1750792792
|
|
NM_001999.4(FBN2):c.4002T>C (p.Asn1334=)
|
rs759408247
|
|
NM_001999.4(FBN2):c.4017G>A (p.Gly1339=)
|
|
|
NM_001999.4(FBN2):c.4032A>G (p.Thr1344=)
|
|
|
NM_001999.4(FBN2):c.4035G>C (p.Lys1345Asn)
|
|
|
NM_001999.4(FBN2):c.4038A>T (p.Gly1346=)
|
|
|
NM_001999.4(FBN2):c.4040C>T (p.Ser1347Phe)
|
|
|
NM_001999.4(FBN2):c.4042T>C (p.Phe1348Leu)
|
|
|
NM_001999.4(FBN2):c.4044C>T (p.Phe1348=)
|
|
|
NM_001999.4(FBN2):c.4053C>G (p.His1351Gln)
|
|
|
NM_001999.4(FBN2):c.4056T>G (p.Cys1352Trp)
|
rs1479056828
|
|
NM_001999.4(FBN2):c.4064G>A (p.Gly1355Asp)
|
|
|
NM_001999.4(FBN2):c.4089A>C (p.Thr1363=)
|
|
|
NM_001999.4(FBN2):c.4090G>C (p.Gly1364Arg)
|
rs1750789808
|
|
NM_001999.4(FBN2):c.4094G>C (p.Cys1365Ser)
|
rs1581223610
|
|
NM_001999.4(FBN2):c.4099+12G>A
|
|
|
NM_001999.4(FBN2):c.4099+7T>G
|
rs1750789192
|
|
NM_001999.4(FBN2):c.4100-11T>C
|
|
|
NM_001999.4(FBN2):c.4100-19A>G
|
|
|
NM_001999.4(FBN2):c.4100-19A>T
|
rs200803675
|
|
NM_001999.4(FBN2):c.4100-6T>C
|
|
|
NM_001999.4(FBN2):c.4100-8T>C
|
|
|
NM_001999.4(FBN2):c.4110G>A (p.Glu1370=)
|
rs1205541313
|
|
NM_001999.4(FBN2):c.4112G>T (p.Cys1371Phe)
|
|
|
NM_001999.4(FBN2):c.4118T>C (p.Ile1373Thr)
|
rs971727405
|
|
NM_001999.4(FBN2):c.411A>G (p.Ile137Met)
|
|
|
NM_001999.4(FBN2):c.4127A>G (p.His1376Arg)
|
rs1255550274
|
|
NM_001999.4(FBN2):c.4135G>A (p.Asp1379Asn)
|
|
|
NM_001999.4(FBN2):c.4135G>C (p.Asp1379His)
|
|
|
NM_001999.4(FBN2):c.4147T>C (p.Ser1383Pro)
|
|
|
NM_001999.4(FBN2):c.4149A>G (p.Ser1383=)
|
|
|
NM_001999.4(FBN2):c.4151G>A (p.Cys1384Tyr)
|
rs794727560
|
|
NM_001999.4(FBN2):c.4157A>C (p.Asn1386Thr)
|
|
|
NM_001999.4(FBN2):c.4177T>C (p.Cys1393Arg)
|
|
|
NM_001999.4(FBN2):c.4184G>A (p.Cys1395Tyr)
|
rs886038935
|
|
NM_001999.4(FBN2):c.4198A>G (p.Ile1400Val)
|
rs1750732608
|
|
NM_001999.4(FBN2):c.4201G>A (p.Gly1401Arg)
|
rs1554122552
|
|
NM_001999.4(FBN2):c.4201G>C (p.Gly1401Arg)
|
rs1554122552
|
|
NM_001999.4(FBN2):c.4203A>G (p.Gly1401=)
|
|
|
NM_001999.4(FBN2):c.4222+1G>A
|
rs1060503498
|
|
NM_001999.4(FBN2):c.4222+5G>A
|
rs1554122550
|
|
NM_001999.4(FBN2):c.4222G>A (p.Asp1408Asn)
|
|
|
NM_001999.4(FBN2):c.4228G>A (p.Asp1410Asn)
|
rs1478574969
|
|
NM_001999.4(FBN2):c.4230C>A (p.Asp1410Glu)
|
|
|
NM_001999.4(FBN2):c.4230C>T (p.Asp1410=)
|
rs138289440
|
|
NM_001999.4(FBN2):c.4231G>A (p.Glu1411Lys)
|
rs866719857
|
|
NM_001999.4(FBN2):c.4244G>T (p.Gly1415Val)
|
rs2126889179
|
|
NM_001999.4(FBN2):c.4247C>A (p.Thr1416Asn)
|
rs1750669779
|
|
NM_001999.4(FBN2):c.4247C>T (p.Thr1416Ile)
|
rs1750669779
|
|
NM_001999.4(FBN2):c.4254G>A (p.Gln1418=)
|
|
|
NM_001999.4(FBN2):c.425G>C (p.Gly142Ala)
|
rs1060503506
|
|
NM_001999.4(FBN2):c.4261A>C (p.Ile1421Leu)
|
rs863223607
|
|
NM_001999.4(FBN2):c.4268C>T (p.Ala1423Val)
|
|
|
NM_001999.4(FBN2):c.4271A>C (p.Gln1424Pro)
|
|
|
NM_001999.4(FBN2):c.4273T>C (p.Cys1425Arg)
|
|
|
NM_001999.4(FBN2):c.4276G>A (p.Val1426Ile)
|
|
|
NM_001999.4(FBN2):c.4283C>T (p.Thr1428Ile)
|
rs367961012
|
|
NM_001999.4(FBN2):c.4285C>A (p.Pro1429Thr)
|
rs1060503511
|
|
NM_001999.4(FBN2):c.4289G>A (p.Gly1430Asp)
|
|
|
NM_001999.4(FBN2):c.4292C>T (p.Ser1431Leu)
|
|
|
NM_001999.4(FBN2):c.4296C>A (p.Tyr1432Ter)
|
rs147046215
|
|
NM_001999.4(FBN2):c.4300T>G (p.Cys1434Gly)
|
|
|
NM_001999.4(FBN2):c.4301G>A (p.Cys1434Tyr)
|
|
|
NM_001999.4(FBN2):c.4301G>C (p.Cys1434Ser)
|
rs1750667332
|
|
NM_001999.4(FBN2):c.4302T>C (p.Cys1434=)
|
rs2126889007
|
|
NM_001999.4(FBN2):c.4303G>T (p.Ala1435Ser)
|
|
|
NM_001999.4(FBN2):c.4306T>C (p.Cys1436Arg)
|
rs1060503510
|
|
NM_001999.4(FBN2):c.4322C>T (p.Thr1441Ile)
|
rs1750666696
|
|
NM_001999.4(FBN2):c.4323T>C (p.Thr1441=)
|
|
|
NM_001999.4(FBN2):c.4340G>A (p.Cys1447Tyr)
|
rs2126888942
|
|
NM_001999.4(FBN2):c.4341C>T (p.Cys1447=)
|
|
|
NM_001999.4(FBN2):c.4345+19G>A
|
rs886038503
|
|
NM_001999.4(FBN2):c.4346-16T>A
|
|
|
NM_001999.4(FBN2):c.4346-2A>G
|
rs587776518
|
|
NM_001999.4(FBN2):c.4346-2A>T
|
rs587776518
|
|
NM_001999.4(FBN2):c.434C>A (p.Ser145Ter)
|
|
|
NM_001999.4(FBN2):c.435A>G (p.Ser145=)
|
|
|
NM_001999.4(FBN2):c.436+13C>T
|
|
|
NM_001999.4(FBN2):c.436+4T>G
|
|
|
NM_001999.4(FBN2):c.4360G>A (p.Ala1454Thr)
|
|
|
NM_001999.4(FBN2):c.437-12T>C
|
|
|
NM_001999.4(FBN2):c.437-1G>A
|
rs1180913191
|
|
NM_001999.4(FBN2):c.4382A>G (p.Glu1461Gly)
|
rs1750620648
|
|
NM_001999.4(FBN2):c.4386C>T (p.Asn1462=)
|
|
|
NM_001999.4(FBN2):c.4390C>G (p.Gln1464Glu)
|
rs1750620267
|
|
NM_001999.4(FBN2):c.4397T>G (p.Leu1466Arg)
|
|
|
NM_001999.4(FBN2):c.4404C>T (p.Val1468=)
|
|
|
NM_001999.4(FBN2):c.4410T>G (p.Gly1470=)
|
|
|
NM_001999.4(FBN2):c.4413A>G (p.Ala1471=)
|
|
|
NM_001999.4(FBN2):c.4423G>A (p.Glu1475Lys)
|
|
|
NM_001999.4(FBN2):c.4442C>T (p.Thr1481Ile)
|
|
|
NM_001999.4(FBN2):c.4444C>G (p.Pro1482Ala)
|
|
|
NM_001999.4(FBN2):c.4444C>T (p.Pro1482Ser)
|
rs1022830212
|
|
NM_001999.4(FBN2):c.4466G>A (p.Cys1489Tyr)
|
|
|
NM_001999.4(FBN2):c.4471+6T>G
|
|
|
NM_001999.4(FBN2):c.4471+9C>A
|
|
|
NM_001999.4(FBN2):c.4472-12del
|
rs758812755
|
|
NM_001999.4(FBN2):c.4472-12dup
|
|
|
NM_001999.4(FBN2):c.4472-18T>A
|
rs200285828
|
|
NM_001999.4(FBN2):c.4472-18T>G
|
|
|
NM_001999.4(FBN2):c.4472-19T>A
|
|
|
NM_001999.4(FBN2):c.4472-2A>G
|
rs1554121102
|
|
NM_001999.4(FBN2):c.4472-3C>T
|
|
|
NM_001999.4(FBN2):c.4472-7T>C
|
|
|
NM_001999.4(FBN2):c.4485C>T (p.Cys1495=)
|
|
|
NM_001999.4(FBN2):c.4487C>T (p.Ser1496Phe)
|
|
|
NM_001999.4(FBN2):c.449G>T (p.Ser150Ile)
|
rs779482726
|
|
NM_001999.4(FBN2):c.4513A>G (p.Thr1505Ala)
|
rs1581212696
|
|
NM_001999.4(FBN2):c.4516T>C (p.Cys1506Arg)
|
rs1750289332
|
|
NM_001999.4(FBN2):c.4545C>T (p.Cys1515=)
|
rs1348263135
|
|
NM_001999.4(FBN2):c.4559G>T (p.Gly1520Val)
|
rs886038767
|
|
NM_001999.4(FBN2):c.4563T>C (p.Tyr1521=)
|
rs1434367982
|
|
NM_001999.4(FBN2):c.4571A>G (p.Asp1524Gly)
|
|
|
NM_001999.4(FBN2):c.4573A>G (p.Arg1525Gly)
|
|
|
NM_001999.4(FBN2):c.4577C>G (p.Thr1526Arg)
|
rs2126854542
|
|
NM_001999.4(FBN2):c.4584G>A (p.Gly1528=)
|
rs1554121089
|
|
NM_001999.4(FBN2):c.4590T>C (p.Cys1530=)
|
rs1581212624
|
|
NM_001999.4(FBN2):c.4592_4594+3del
|
rs2126854512
|
|
NM_001999.4(FBN2):c.4594+3A>G
|
|
|
NM_001999.4(FBN2):c.4594G>A (p.Asp1532Asn)
|
rs863223574
|
|
NM_001999.4(FBN2):c.4594G>T (p.Asp1532Tyr)
|
|
|
NM_001999.4(FBN2):c.4595-4C>A
|
|
|
NM_001999.4(FBN2):c.4620A>C (p.Ile1540=)
|
|
|
NM_001999.4(FBN2):c.4627G>A (p.Val1543Ile)
|
rs1554121038
|
|
NM_001999.4(FBN2):c.4649C>T (p.Thr1550Met)
|
|
|
NM_001999.4(FBN2):c.4657C>G (p.Arg1553Gly)
|
|
|
NM_001999.4(FBN2):c.4658G>C (p.Arg1553Pro)
|
|
|
NM_001999.4(FBN2):c.4659C>T (p.Arg1553=)
|
|
|
NM_001999.4(FBN2):c.4661A>T (p.Tyr1554Phe)
|
|
|
NM_001999.4(FBN2):c.4665G>A (p.Glu1555=)
|
|
|
NM_001999.4(FBN2):c.4674C>T (p.Cys1558=)
|
|
|
NM_001999.4(FBN2):c.4677A>G (p.Pro1559=)
|
rs1581212135
|
|
NM_001999.4(FBN2):c.4681G>A (p.Asp1561Asn)
|
|
|
NM_001999.4(FBN2):c.4696C>A (p.Pro1566Thr)
|
|
|
NM_001999.4(FBN2):c.4709G>C (p.Gly1570Ala)
|
|
|
NM_001999.4(FBN2):c.4709G>T (p.Gly1570Val)
|
|
|
NM_001999.4(FBN2):c.4710T>C (p.Gly1570=)
|
|
|
NM_001999.4(FBN2):c.4714G>T (p.Val1572Phe)
|
rs535517270
|
|
NM_001999.4(FBN2):c.4717+8A>G
|
rs1750262267
|
|
NM_001999.4(FBN2):c.4718-6C>T
|
|
|
NM_001999.4(FBN2):c.471G>A (p.Gly157=)
|
|
|
NM_001999.4(FBN2):c.4727T>C (p.Val1576Ala)
|
rs1581208599
|
|
NM_001999.4(FBN2):c.4738T>C (p.Tyr1580His)
|
rs1060503508
|
|
NM_001999.4(FBN2):c.4748T>C (p.Phe1583Ser)
|
|
|
NM_001999.4(FBN2):c.4757G>A (p.Arg1586Gln)
|
rs143195229
|
|
NM_001999.4(FBN2):c.4767G>T (p.Gly1589=)
|
rs1750089730
|
|
NM_001999.4(FBN2):c.4770T>G (p.Ser1590Arg)
|
rs1295579995
|
|
NM_001999.4(FBN2):c.4771C>G (p.Leu1591Val)
|
|
|
NM_001999.4(FBN2):c.4773G>A (p.Leu1591=)
|
rs753387547
|
|
NM_001999.4(FBN2):c.4815A>C (p.Ser1605=)
|
rs377657220
|
|
NM_001999.4(FBN2):c.4824C>T (p.Cys1608=)
|
rs886059899
|
|
NM_001999.4(FBN2):c.4828C>T (p.Leu1610=)
|
|
|
NM_001999.4(FBN2):c.4829T>C (p.Leu1610Pro)
|
rs886038891
|
|
NM_001999.4(FBN2):c.4835A>G (p.Lys1612Arg)
|
rs2126847622
|
|
NM_001999.4(FBN2):c.4838C>G (p.Ala1613Gly)
|
|
|
NM_001999.4(FBN2):c.4863C>G (p.Cys1621Trp)
|
rs1420949011
|
|
NM_001999.4(FBN2):c.4863C>T (p.Cys1621=)
|
|
|
NM_001999.4(FBN2):c.4864C>G (p.Pro1622Ala)
|
rs750116860
|
|
NM_001999.4(FBN2):c.4867C>T (p.Pro1623Ser)
|
rs139830237
|
|
NM_001999.4(FBN2):c.4877G>A (p.Ser1626Asn)
|
|
|
NM_001999.4(FBN2):c.4877G>T (p.Ser1626Ile)
|
rs1403929477
|
|
NM_001999.4(FBN2):c.4879+12G>A
|
|
|
NM_001999.4(FBN2):c.4879+16A>G
|
rs2126847534
|
|
NM_001999.4(FBN2):c.4879A>C (p.Thr1627Pro)
|
rs1561765113
|
|
NM_001999.4(FBN2):c.4880-12A>G
|
rs376111927
|
|
NM_001999.4(FBN2):c.4880-14C>G
|
|
|
NM_001999.4(FBN2):c.4884A>C (p.Glu1628Asp)
|
|
|
NM_001999.4(FBN2):c.4896G>A (p.Leu1632=)
|
|
|
NM_001999.4(FBN2):c.489C>G (p.His163Gln)
|
rs2112798145
|
|
NM_001999.4(FBN2):c.4919G>T (p.Arg1640Ile)
|
|
|
NM_001999.4(FBN2):c.4924A>G (p.Asn1642Asp)
|
|
|
NM_001999.4(FBN2):c.4925A>G (p.Asn1642Ser)
|
|
|
NM_001999.4(FBN2):c.4928C>G (p.Pro1643Arg)
|
rs863223609
|
|
NM_001999.4(FBN2):c.4938C>T (p.Ile1646=)
|
rs773597432
|
|
NM_001999.4(FBN2):c.4948+15T>C
|
|
|
NM_001999.4(FBN2):c.4949-12C>T
|
|
|
NM_001999.4(FBN2):c.4949-17T>C
|
rs2126846281
|
|
NM_001999.4(FBN2):c.4949-19A>C
|
|
|
NM_001999.4(FBN2):c.4949-6T>C
|
|
|
NM_001999.4(FBN2):c.4957G>A (p.Glu1653Lys)
|
|
|
NM_001999.4(FBN2):c.4959A>C (p.Glu1653Asp)
|
rs1554120359
|
|
NM_001999.4(FBN2):c.4961G>T (p.Cys1654Phe)
|
|
|
NM_001999.4(FBN2):c.4971A>G (p.Leu1657=)
|
|
|
NM_001999.4(FBN2):c.4980C>T (p.Leu1660=)
|
|
|
NM_001999.4(FBN2):c.4986G>A (p.Gln1662=)
|
rs1554120357
|
|
NM_001999.4(FBN2):c.5037A>C (p.Gln1679His)
|
rs1554120349
|
|
NM_001999.4(FBN2):c.5045A>G (p.Tyr1682Cys)
|
rs769474473
|
|
NM_001999.4(FBN2):c.5050A>G (p.Ser1684Gly)
|
rs863223577
|
|
NM_001999.4(FBN2):c.5052C>T (p.Ser1684=)
|
|
|
NM_001999.4(FBN2):c.5068T>C (p.Cys1690Arg)
|
rs141401126
|
|
NM_001999.4(FBN2):c.5069G>A (p.Cys1690Tyr)
|
rs1554120340
|
|
NM_001999.4(FBN2):c.5073A>G (p.Glu1691=)
|
|
|
NM_001999.4(FBN2):c.5074+12T>A
|
|
|
NM_001999.4(FBN2):c.5075-10C>G
|
|
|
NM_001999.4(FBN2):c.5075-19A>T
|
|
|
NM_001999.4(FBN2):c.5075-20_5075-17del
|
|
|
NM_001999.4(FBN2):c.5075A>G (p.Asp1692Gly)
|
|
|
NM_001999.4(FBN2):c.5078T>G (p.Ile1693Ser)
|
|
|
NM_001999.4(FBN2):c.5079T>C (p.Ile1693=)
|
|
|
NM_001999.4(FBN2):c.5092G>T (p.Ala1698Ser)
|
|
|
NM_001999.4(FBN2):c.5093C>T (p.Ala1698Val)
|
|
|
NM_001999.4(FBN2):c.5116G>C (p.Gly1706Arg)
|
|
|
NM_001999.4(FBN2):c.5118G>A (p.Gly1706=)
|
rs1284156837
|
|
NM_001999.4(FBN2):c.5119A>T (p.Thr1707Ser)
|
rs1749990667
|
|
NM_001999.4(FBN2):c.514G>A (p.Gly172Arg)
|
|
|
NM_001999.4(FBN2):c.5150G>T (p.Cys1717Phe)
|
rs1554120186
|
|
NM_001999.4(FBN2):c.5183G>T (p.Gly1728Val)
|
|
|
NM_001999.4(FBN2):c.518C>T (p.Thr173Ile)
|
rs147157552
|
|
NM_001999.4(FBN2):c.5200+5_5200+10del
|
|
|
NM_001999.4(FBN2):c.5201-17dup
|
|
|
NM_001999.4(FBN2):c.5201-19T>G
|
|
|
NM_001999.4(FBN2):c.5201-20C>A
|
|
|
NM_001999.4(FBN2):c.523T>C (p.Cys175Arg)
|
rs886038942
|
|
NM_001999.4(FBN2):c.5240C>G (p.Thr1747Ser)
|
|
|
NM_001999.4(FBN2):c.5242A>G (p.Thr1748Ala)
|
|
|
NM_001999.4(FBN2):c.5257T>C (p.Leu1753=)
|
|
|
NM_001999.4(FBN2):c.5279G>C (p.Arg1760Thr)
|
rs748580764
|
|
NM_001999.4(FBN2):c.5280G>T (p.Arg1760Ser)
|
rs886059898
|
|
NM_001999.4(FBN2):c.5281A>T (p.Met1761Leu)
|
rs886059897
|
|
NM_001999.4(FBN2):c.5283G>T (p.Met1761Ile)
|
rs2126842957
|
|
NM_001999.4(FBN2):c.528A>G (p.Gly176=)
|
|
|
NM_001999.4(FBN2):c.5307C>A (p.Gly1769=)
|
rs755781072
|
|
NM_001999.4(FBN2):c.5312C>T (p.Ala1771Val)
|
rs2126842904
|
|
NM_001999.4(FBN2):c.531A>G (p.Gln177=)
|
rs863223544
|
|
NM_001999.4(FBN2):c.532+16T>G
|
|
|
NM_001999.4(FBN2):c.532+1G>A
|
|
|
NM_001999.4(FBN2):c.533-11T>A
|
|
|
NM_001999.4(FBN2):c.533-14A>G
|
|
|
NM_001999.4(FBN2):c.533-1G>C
|
rs1756369186
|
|
NM_001999.4(FBN2):c.533-4G>A
|
|
|
NM_001999.4(FBN2):c.5332C>A (p.Pro1778Thr)
|
|
|
NM_001999.4(FBN2):c.5337C>T (p.Cys1779=)
|
rs1307268596
|
|
NM_001999.4(FBN2):c.5339C>G (p.Pro1780Arg)
|
|
|
NM_001999.4(FBN2):c.533C>T (p.Pro178Leu)
|
|
|
NM_001999.4(FBN2):c.5344C>T (p.Pro1782Ser)
|
rs1554120093
|
|
NM_001999.4(FBN2):c.5346A>G (p.Pro1782=)
|
rs2126842864
|
|
NM_001999.4(FBN2):c.5353+10C>A
|
rs113589974
|
|
NM_001999.4(FBN2):c.5353+15C>A
|
|
|
NM_001999.4(FBN2):c.5353+16G>C
|
|
|
NM_001999.4(FBN2):c.5354-4A>G
|
rs2126840686
|
|
NM_001999.4(FBN2):c.535G>C (p.Val179Leu)
|
|
|
NM_001999.4(FBN2):c.5392A>G (p.Thr1798Ala)
|
|
|
NM_001999.4(FBN2):c.5401A>G (p.Ile1801Val)
|
|
|
NM_001999.4(FBN2):c.5420T>C (p.Val1807Ala)
|
|
|
NM_001999.4(FBN2):c.5422+11C>T
|
|
|
NM_001999.4(FBN2):c.5422+14G>A
|
|
|
NM_001999.4(FBN2):c.5422+20G>A
|
|
|
NM_001999.4(FBN2):c.5423-17A>G
|
rs2126839337
|
|
NM_001999.4(FBN2):c.5423-18A>C
|
|
|
NM_001999.4(FBN2):c.5423-18A>G
|
|
|
NM_001999.4(FBN2):c.5423-1G>C
|
|
|
NM_001999.4(FBN2):c.5429A>G (p.Asp1810Gly)
|
rs1749861614
|
|
NM_001999.4(FBN2):c.5443A>T (p.Ile1815Phe)
|
|
|
NM_001999.4(FBN2):c.5446C>G (p.Pro1816Ala)
|
rs1561760487
|
|
NM_001999.4(FBN2):c.5450G>T (p.Gly1817Val)
|
|
|
NM_001999.4(FBN2):c.5462A>G (p.Asn1821Ser)
|
|
|
NM_001999.4(FBN2):c.5472C>T (p.Cys1824=)
|
rs1385121154
|
|
NM_001999.4(FBN2):c.5481G>C (p.Gln1827His)
|
|
|
NM_001999.4(FBN2):c.5484T>G (p.Ile1828Met)
|
|
|
NM_001999.4(FBN2):c.5493C>G (p.Phe1831Leu)
|
|
|
NM_001999.4(FBN2):c.5511A>G (p.Thr1837=)
|
|
|
NM_001999.4(FBN2):c.5534T>G (p.Leu1845Arg)
|
rs1749856162
|
|
NM_001999.4(FBN2):c.5548G>A (p.Asp1850Asn)
|
|
|
NM_001999.4(FBN2):c.5549-8T>C
|
|
|
NM_001999.4(FBN2):c.5550T>C (p.Asp1850=)
|
|
|
NM_001999.4(FBN2):c.5552T>C (p.Ile1851Thr)
|
|
|
NM_001999.4(FBN2):c.5552T>G (p.Ile1851Arg)
|
|
|
NM_001999.4(FBN2):c.5555A>G (p.Asp1852Gly)
|
rs1749848470
|
|
NM_001999.4(FBN2):c.5555A>T (p.Asp1852Val)
|
|
|
NM_001999.4(FBN2):c.5565C>T (p.Ser1855=)
|
|
|
NM_001999.4(FBN2):c.5568T>A (p.Asn1856Lys)
|
rs1201284691
|
|
NM_001999.4(FBN2):c.5569G>A (p.Gly1857Ser)
|
rs2126838900
|
|
NM_001999.4(FBN2):c.5579T>C (p.Leu1860Pro)
|
|
|
NM_001999.4(FBN2):c.5588G>A (p.Arg1863Gln)
|
rs1447600676
|
|
NM_001999.4(FBN2):c.5593G>T (p.Ala1865Ser)
|
rs200681872
|
|
NM_001999.4(FBN2):c.5595A>T (p.Ala1865=)
|
rs1749846586
|
|
NM_001999.4(FBN2):c.5596G>A (p.Asp1866Asn)
|
|
|
NM_001999.4(FBN2):c.5597A>G (p.Asp1866Gly)
|
|
|
NM_001999.4(FBN2):c.5598C>G (p.Asp1866Glu)
|
|
|
NM_001999.4(FBN2):c.55G>A (p.Val19Met)
|
rs1357709072
|
|
NM_001999.4(FBN2):c.5606A>G (p.Asn1869Ser)
|
rs1749845932
|
|
NM_001999.4(FBN2):c.5617A>C (p.Ser1873Arg)
|
rs1060503504
|
|
NM_001999.4(FBN2):c.5617dup (p.Ser1873fs)
|
rs1561760194
|
|
NM_001999.4(FBN2):c.5623C>T (p.Arg1875Cys)
|
|
|
NM_001999.4(FBN2):c.5632T>C (p.Cys1878Arg)
|
rs1248957106
|
|
NM_001999.4(FBN2):c.5674+12G>A
|
|
|
NM_001999.4(FBN2):c.5674+4A>G
|
rs778011355
|
|
NM_001999.4(FBN2):c.5674+8A>G
|
rs2126838714
|
|
NM_001999.4(FBN2):c.5675-14T>A
|
|
|
NM_001999.4(FBN2):c.5675-17A>G
|
|
|
NM_001999.4(FBN2):c.5675-17A>T
|
|
|
NM_001999.4(FBN2):c.5675-18del
|
|
|
NM_001999.4(FBN2):c.5690T>C (p.Leu1897Ser)
|
|
|
NM_001999.4(FBN2):c.5692G>C (p.Glu1898Gln)
|
rs767932789
|
|
NM_001999.4(FBN2):c.5700T>C (p.Pro1900=)
|
|
|
NM_001999.4(FBN2):c.5704G>T (p.Val1902Phe)
|
|
|
NM_001999.4(FBN2):c.5718C>T (p.Gly1906=)
|
|
|
NM_001999.4(FBN2):c.573C>A (p.Ile191=)
|
|
|
NM_001999.4(FBN2):c.5741G>A (p.Ser1914Asn)
|
|
|
NM_001999.4(FBN2):c.5744A>T (p.Tyr1915Phe)
|
|
|
NM_001999.4(FBN2):c.5745C>T (p.Tyr1915=)
|
|
|
NM_001999.4(FBN2):c.5750G>A (p.Cys1917Tyr)
|
|
|
NM_001999.4(FBN2):c.5754C>A (p.Ile1918=)
|
rs1554119714
|
|
NM_001999.4(FBN2):c.5775T>C (p.Ala1925=)
|
|
|
NM_001999.4(FBN2):c.5780A>C (p.Gln1927Pro)
|
|
|
NM_001999.4(FBN2):c.5789C>A (p.Thr1930Asn)
|
|
|
NM_001999.4(FBN2):c.578C>T (p.Pro193Leu)
|
|
|
NM_001999.4(FBN2):c.579C>G (p.Pro193=)
|
|
|
NM_001999.4(FBN2):c.5800+16G>A
|
|
|
NM_001999.4(FBN2):c.5800+20C>T
|
rs1554119695
|
|
NM_001999.4(FBN2):c.5800+6A>T
|
rs2126838039
|
|
NM_001999.4(FBN2):c.5800+9G>A
|
|
|
NM_001999.4(FBN2):c.5801-18G>T
|
|
|
NM_001999.4(FBN2):c.5801-5T>G
|
rs571282132
|
|
NM_001999.4(FBN2):c.5804_5806del (p.Val1935del)
|
rs1554119538
|
|
NM_001999.4(FBN2):c.5805T>C (p.Val1935=)
|
rs777941578
|
|
NM_001999.4(FBN2):c.5811G>A (p.Glu1937=)
|
|
|
NM_001999.4(FBN2):c.5818C>T (p.Arg1940Trp)
|
rs755672868
|
|
NM_001999.4(FBN2):c.583C>T (p.Arg195Cys)
|
rs1561495424
|
|
NM_001999.4(FBN2):c.584G>A (p.Arg195His)
|
rs746890032
|
|
NM_001999.4(FBN2):c.5868C>T (p.Asn1956=)
|
|
|
NM_001999.4(FBN2):c.5871T>C (p.Cys1957=)
|
|
|
NM_001999.4(FBN2):c.5886G>C (p.Gly1962=)
|
rs747408641
|
|
NM_001999.4(FBN2):c.5889T>C (p.Phe1963=)
|
rs1554119526
|
|
NM_001999.4(FBN2):c.5895C>G (p.Leu1965=)
|
rs1581201379
|
|
NM_001999.4(FBN2):c.5898T>C (p.Thr1966=)
|
rs2126835924
|
|
NM_001999.4(FBN2):c.5899C>G (p.His1967Asp)
|
|
|
NM_001999.4(FBN2):c.5910T>G (p.Asp1970Glu)
|
rs1749761553
|
|
NM_001999.4(FBN2):c.5917+10T>G
|
|
|
NM_001999.4(FBN2):c.5917+1del
|
|
|
NM_001999.4(FBN2):c.5917+20C>T
|
|
|
NM_001999.4(FBN2):c.5917+5G>A
|
rs1561758622
|
|
NM_001999.4(FBN2):c.5918-10T>C
|
rs547697385
|
|
NM_001999.4(FBN2):c.5918-13T>C
|
|
|
NM_001999.4(FBN2):c.5918-20A>G
|
|
|
NM_001999.4(FBN2):c.5921_5922delinsCG (p.Ile1974Thr)
|
rs1749718755
|
|
NM_001999.4(FBN2):c.5945G>A (p.Gly1982Asp)
|
rs1561757902
|
|
NM_001999.4(FBN2):c.5971T>C (p.Phe1991Leu)
|
|
|
NM_001999.4(FBN2):c.5976T>C (p.Asn1992=)
|
rs1749717202
|
|
NM_001999.4(FBN2):c.5978A>G (p.Glu1993Gly)
|
rs1749717138
|
|
NM_001999.4(FBN2):c.5990T>C (p.Phe1997Ser)
|
rs754066538
|
|
NM_001999.4(FBN2):c.5998C>A (p.Leu2000Ile)
|
|
|
NM_001999.4(FBN2):c.5G>A (p.Gly2Glu)
|
rs976599275
|
|
NM_001999.4(FBN2):c.6016G>A (p.Glu2006Lys)
|
|
|
NM_001999.4(FBN2):c.6026C>T (p.Pro2009Leu)
|
|
|
NM_001999.4(FBN2):c.6028G>C (p.Asp2010His)
|
rs1749713036
|
|
NM_001999.4(FBN2):c.6030T>A (p.Asp2010Glu)
|
rs776937649
|
|
NM_001999.4(FBN2):c.6031G>A (p.Gly2011Ser)
|
|
|
NM_001999.4(FBN2):c.6043A>G (p.Ile2015Val)
|
rs1202188687
|
|
NM_001999.4(FBN2):c.6045A>G (p.Ile2015Met)
|
rs770585421
|
|
NM_001999.4(FBN2):c.6046+10T>C
|
rs1179452976
|
|
NM_001999.4(FBN2):c.6046+16A>G
|
|
|
NM_001999.4(FBN2):c.6046+2T>C
|
rs1581200259
|
|
NM_001999.4(FBN2):c.6046G>C (p.Asp2016His)
|
rs1749711886
|
|
NM_001999.4(FBN2):c.6047-13T>C
|
|
|
NM_001999.4(FBN2):c.6047-9del
|
|
|
NM_001999.4(FBN2):c.6053A>G (p.Asn2018Ser)
|
|
|
NM_001999.4(FBN2):c.6055G>A (p.Glu2019Lys)
|
rs1554119321
|
|
NM_001999.4(FBN2):c.6056A>G (p.Glu2019Gly)
|
rs1749697561
|
|
NM_001999.4(FBN2):c.6071C>A (p.Pro2024His)
|
|
|
NM_001999.4(FBN2):c.6089G>T (p.Gly2030Val)
|
|
|
NM_001999.4(FBN2):c.60G>C (p.Val20=)
|
|
|
NM_001999.4(FBN2):c.6118A>G (p.Arg2040Gly)
|
rs886038814
|
|
NM_001999.4(FBN2):c.6122G>A (p.Cys2041Tyr)
|
rs2126833724
|
|
NM_001999.4(FBN2):c.6131C>T (p.Pro2044Leu)
|
|
|
NM_001999.4(FBN2):c.6147A>G (p.Val2049=)
|
|
|
NM_001999.4(FBN2):c.6154G>A (p.Glu2052Lys)
|
|
|
NM_001999.4(FBN2):c.6160T>A (p.Cys2054Ser)
|
|
|
NM_001999.4(FBN2):c.6165T>G (p.Ile2055Met)
|
|
|
NM_001999.4(FBN2):c.6167-12C>T
|
|
|
NM_001999.4(FBN2):c.6167-13_6167-11del
|
rs1749326713
|
|
NM_001999.4(FBN2):c.6167-15C>A
|
rs1749327059
|
|
NM_001999.4(FBN2):c.6167-1G>C
|
|
|
NM_001999.4(FBN2):c.6167-3C>A
|
rs878854477
|
|
NM_001999.4(FBN2):c.6167-4G>A
|
rs370981323
|
|
NM_001999.4(FBN2):c.6167-4G>T
|
rs370981323
|
|
NM_001999.4(FBN2):c.6195C>T (p.Asn2065=)
|
|
|
NM_001999.4(FBN2):c.6228A>G (p.Pro2076=)
|
rs1749324052
|
|
NM_001999.4(FBN2):c.6229G>A (p.Gly2077Arg)
|
|
|
NM_001999.4(FBN2):c.6231G>A (p.Gly2077=)
|
|
|
NM_001999.4(FBN2):c.6233G>C (p.Gly2078Ala)
|
rs753305406
|
|
NM_001999.4(FBN2):c.6254C>G (p.Pro2085Arg)
|
rs2126822046
|
|
NM_001999.4(FBN2):c.6262G>T (p.Val2088Leu)
|
rs893616190
|
|
NM_001999.4(FBN2):c.6269C>G (p.Ser2090Cys)
|
|
|
NM_001999.4(FBN2):c.6269C>T (p.Ser2090Phe)
|
rs878854478
|
|
NM_001999.4(FBN2):c.6270T>C (p.Ser2090=)
|
rs2126822027
|
|
NM_001999.4(FBN2):c.6277G>A (p.Gly2093Arg)
|
|
|
NM_001999.4(FBN2):c.628+20T>G
|
|
|
NM_001999.4(FBN2):c.628+3A>G
|
|
|
NM_001999.4(FBN2):c.628+4A>C
|
|
|
NM_001999.4(FBN2):c.628+8G>A
|
|
|
NM_001999.4(FBN2):c.6281G>A (p.Arg2094Gln)
|
|
|
NM_001999.4(FBN2):c.6282G>T (p.Arg2094=)
|
|
|
NM_001999.4(FBN2):c.629-11C>T
|
rs2127084540
|
|
NM_001999.4(FBN2):c.629-15T>G
|
|
|
NM_001999.4(FBN2):c.629-26TCTT[4]
|
rs778383061
|
|
NM_001999.4(FBN2):c.629-3C>G
|
rs376491648
|
|
NM_001999.4(FBN2):c.6292+11G>C
|
|
|
NM_001999.4(FBN2):c.6292+17C>G
|
|
|
NM_001999.4(FBN2):c.6292+17C>T
|
rs776362563
|
|
NM_001999.4(FBN2):c.6292+6A>G
|
|
|
NM_001999.4(FBN2):c.6293-13C>A
|
|
|
NM_001999.4(FBN2):c.6299G>A (p.Arg2100His)
|
rs746758405
|
|
NM_001999.4(FBN2):c.6349A>G (p.Lys2117Glu)
|
rs2126821327
|
|
NM_001999.4(FBN2):c.6353C>T (p.Ala2118Val)
|
|
|
NM_001999.4(FBN2):c.63C>G (p.Leu21=)
|
rs2112811119
|
|
NM_001999.4(FBN2):c.640G>A (p.Gly214Ser)
|
|
|
NM_001999.4(FBN2):c.6412G>A (p.Asp2138Asn)
|
|
|
NM_001999.4(FBN2):c.6415C>T (p.Pro2139Ser)
|
rs1266965965
|
|
NM_001999.4(FBN2):c.6421G>A (p.Glu2141Lys)
|
|
|
NM_001999.4(FBN2):c.6424C>T (p.Leu2142=)
|
rs2126821243
|
|
NM_001999.4(FBN2):c.6426G>A (p.Leu2142=)
|
rs2126821236
|
|
NM_001999.4(FBN2):c.6426G>C (p.Leu2142=)
|
rs2126821236
|
|
NM_001999.4(FBN2):c.6437A>G (p.Asp2146Gly)
|
rs760548036
|
|
NM_001999.4(FBN2):c.6445+14C>T
|
|
|
NM_001999.4(FBN2):c.6445+3A>G
|
|
|
NM_001999.4(FBN2):c.6445+7G>T
|
|
|
NM_001999.4(FBN2):c.6446-12T>G
|
|
|
NM_001999.4(FBN2):c.6446-15T>C
|
|
|
NM_001999.4(FBN2):c.6446-4G>C
|
|
|
NM_001999.4(FBN2):c.6446-8C>A
|
rs2126820462
|
|
NM_001999.4(FBN2):c.6446T>C (p.Val2149Ala)
|
rs191065419
|
|
NM_001999.4(FBN2):c.6446T>G (p.Val2149Gly)
|
rs191065419
|
|
NM_001999.4(FBN2):c.6454C>T (p.Gln2152Ter)
|
|
|
NM_001999.4(FBN2):c.6456G>A (p.Gln2152=)
|
|
|
NM_001999.4(FBN2):c.645G>T (p.Pro215=)
|
rs764473594
|
|
NM_001999.4(FBN2):c.6468A>G (p.Pro2156=)
|
|
|
NM_001999.4(FBN2):c.6506G>A (p.Arg2169His)
|
|
|
NM_001999.4(FBN2):c.6511+4C>A
|
rs368610241
|
|
NM_001999.4(FBN2):c.6512-11C>A
|
rs759648926
|
|
NM_001999.4(FBN2):c.6512-11C>T
|
rs759648926
|
|
NM_001999.4(FBN2):c.6512-2A>G
|
rs863223580
|
|
NM_001999.4(FBN2):c.6512-2A>T
|
|
|
NM_001999.4(FBN2):c.6512-8T>A
|
rs2126819626
|
|
NM_001999.4(FBN2):c.6560G>C (p.Cys2187Ser)
|
rs1471927589
|
|
NM_001999.4(FBN2):c.6569C>G (p.Thr2190Ser)
|
rs1561750168
|
|
NM_001999.4(FBN2):c.6570C>T (p.Thr2190=)
|
|
|
NM_001999.4(FBN2):c.6571G>A (p.Asp2191Asn)
|
rs1244642553
|
|
NM_001999.4(FBN2):c.6575G>C (p.Gly2192Ala)
|
|
|
NM_001999.4(FBN2):c.6583C>T (p.Arg2195Cys)
|
rs886059896
|
|
NM_001999.4(FBN2):c.6591A>G (p.Glu2197=)
|
rs886059895
|
|
NM_001999.4(FBN2):c.6619A>C (p.Thr2207Pro)
|
|
|
NM_001999.4(FBN2):c.6620C>T (p.Thr2207Ile)
|
|
|
NM_001999.4(FBN2):c.6623G>A (p.Gly2208Glu)
|
rs200489152
|
|
NM_001999.4(FBN2):c.6625G>T (p.Val2209Leu)
|
|
|
NM_001999.4(FBN2):c.6637+8T>C
|
rs780697390
|
|
NM_001999.4(FBN2):c.6638-13T>A
|
|
|
NM_001999.4(FBN2):c.6638-15_6638-13del
|
rs756212920
|
|
NM_001999.4(FBN2):c.6638-19T>C
|
rs2126818779
|
|
NM_001999.4(FBN2):c.6638-9_6638-7del
|
rs754187604
|
|
NM_001999.4(FBN2):c.6657C>T (p.Ile2219=)
|
|
|
NM_001999.4(FBN2):c.6663T>A (p.Asn2221Lys)
|
rs2126818692
|
|
NM_001999.4(FBN2):c.6678T>C (p.Gly2226=)
|
rs2126818668
|
|
NM_001999.4(FBN2):c.6680C>T (p.Thr2227Ile)
|
rs863223583
|
|
NM_001999.4(FBN2):c.6693T>C (p.Val2231=)
|
rs1554118051
|
|
NM_001999.4(FBN2):c.6700A>G (p.Ser2234Gly)
|
rs1749221516
|
|
NM_001999.4(FBN2):c.6719A>G (p.Asn2240Ser)
|
rs863223612
|
|
NM_001999.4(FBN2):c.6748A>T (p.Asn2250Tyr)
|
|
|
NM_001999.4(FBN2):c.6757+2C>T
|
|
|
NM_001999.4(FBN2):c.6757+8A>T
|
|
|
NM_001999.4(FBN2):c.6757+9T>C
|
|
|
NM_001999.4(FBN2):c.6758-11C>T
|
rs1749187127
|
|
NM_001999.4(FBN2):c.6758-12del
|
rs757126046
|
|
NM_001999.4(FBN2):c.6765C>T (p.Asn2255=)
|
rs140044610
|
|
NM_001999.4(FBN2):c.676C>G (p.Gln226Glu)
|
|
|
NM_001999.4(FBN2):c.6777G>A (p.Gln2259=)
|
|
|
NM_001999.4(FBN2):c.677A>G (p.Gln226Arg)
|
|
|
NM_001999.4(FBN2):c.6783A>C (p.Pro2261=)
|
rs1561749096
|
|
NM_001999.4(FBN2):c.6786G>T (p.Leu2262=)
|
|
|
NM_001999.4(FBN2):c.67G>C (p.Ala23Pro)
|
rs893243344
|
|
NM_001999.4(FBN2):c.6814T>G (p.Phe2272Val)
|
rs1749185390
|
|
NM_001999.4(FBN2):c.6832A>G (p.Thr2278Ala)
|
rs1060503500
|
|
NM_001999.4(FBN2):c.6840G>A (p.Pro2280=)
|
rs377742525
|
|
NM_001999.4(FBN2):c.6856A>G (p.Arg2286Gly)
|
|
|
NM_001999.4(FBN2):c.685C>T (p.Leu229=)
|
rs200698449
|
|
NM_001999.4(FBN2):c.6870G>C (p.Lys2290Asn)
|
|
|
NM_001999.4(FBN2):c.6873G>A (p.Met2291Ile)
|
rs1581189176
|
|
NM_001999.4(FBN2):c.6880+16C>T
|
|
|
NM_001999.4(FBN2):c.6880+19G>T
|
|
|
NM_001999.4(FBN2):c.6880+6G>A
|
|
|
NM_001999.4(FBN2):c.6880+6G>C
|
rs1271195305
|
|
NM_001999.4(FBN2):c.6880+8C>T
|
rs1749181973
|
|
NM_001999.4(FBN2):c.6881-13T>C
|
|
|
NM_001999.4(FBN2):c.6881-15del
|
|
|
NM_001999.4(FBN2):c.6881-19T>A
|
|
|
NM_001999.4(FBN2):c.6881-1G>A
|
|
|
NM_001999.4(FBN2):c.6881-1G>T
|
|
|
NM_001999.4(FBN2):c.6881-4C>G
|
|
|
NM_001999.4(FBN2):c.6898G>A (p.Glu2300Lys)
|
rs1419124277
|
|
NM_001999.4(FBN2):c.68C>A (p.Ala23Glu)
|
rs199560824
|
|
NM_001999.4(FBN2):c.6903G>A (p.Gly2301=)
|
|
|
NM_001999.4(FBN2):c.6903G>T (p.Gly2301=)
|
rs886039130
|
|
NM_001999.4(FBN2):c.6908A>G (p.His2303Arg)
|
|
|
NM_001999.4(FBN2):c.6909C>A (p.His2303Gln)
|
|
|
NM_001999.4(FBN2):c.6911A>G (p.Asp2304Gly)
|
|
|
NM_001999.4(FBN2):c.6917A>G (p.Glu2306Gly)
|
|
|
NM_001999.4(FBN2):c.6924G>A (p.Arg2308=)
|
|
|
NM_001999.4(FBN2):c.6948C>A (p.Ile2316=)
|
rs17608368
|
|
NM_001999.4(FBN2):c.6948C>T (p.Ile2316=)
|
rs17608368
|
|
NM_001999.4(FBN2):c.6972T>A (p.Pro2324=)
|
|
|
NM_001999.4(FBN2):c.6972T>C (p.Pro2324=)
|
rs1581188714
|
|
NM_001999.4(FBN2):c.6972T>G (p.Pro2324=)
|
|
|
NM_001999.4(FBN2):c.6975T>A (p.Pro2325=)
|
rs1274780641
|
|
NM_001999.4(FBN2):c.6975T>C (p.Pro2325=)
|
|
|
NM_001999.4(FBN2):c.6977G>C (p.Gly2326Ala)
|
rs1554117875
|
|
NM_001999.4(FBN2):c.6985C>T (p.Arg2329Ter)
|
rs1287289593
|
|
NM_001999.4(FBN2):c.6986G>T (p.Arg2329Leu)
|
rs370804151
|
|
NM_001999.4(FBN2):c.6993C>T (p.Pro2331=)
|
rs368234173
|
|
NM_001999.4(FBN2):c.6999A>C (p.Gly2333=)
|
|
|
NM_001999.4(FBN2):c.7011A>G (p.Val2337=)
|
rs2126816680
|
|
NM_001999.4(FBN2):c.7012+13G>A
|
|
|
NM_001999.4(FBN2):c.7012+18G>T
|
|
|
NM_001999.4(FBN2):c.7012+7G>C
|
rs199735209
|
|
NM_001999.4(FBN2):c.7012+8G>A
|
rs1422660066
|
|
NM_001999.4(FBN2):c.7013-5del
|
|
|
NM_001999.4(FBN2):c.7013-7T>C
|
|
|
NM_001999.4(FBN2):c.7030A>T (p.Thr2344Ser)
|
|
|
NM_001999.4(FBN2):c.7052A>G (p.Asn2351Ser)
|
rs1581184433
|
|
NM_001999.4(FBN2):c.7055G>C (p.Gly2352Ala)
|
rs764330020
|
|
NM_001999.4(FBN2):c.705G>A (p.Thr235=)
|
|
|
NM_001999.4(FBN2):c.705G>T (p.Thr235=)
|
|
|
NM_001999.4(FBN2):c.7080C>A (p.Ser2360Arg)
|
|
|
NM_001999.4(FBN2):c.7085G>A (p.Arg2362Lys)
|
rs771718967
|
|
NM_001999.4(FBN2):c.7085G>C (p.Arg2362Thr)
|
rs771718967
|
|
NM_001999.4(FBN2):c.7109A>G (p.Gln2370Arg)
|
|
|
NM_001999.4(FBN2):c.7115G>C (p.Ser2372Thr)
|
|
|
NM_001999.4(FBN2):c.7118C>T (p.Ser2373Phe)
|
|
|
NM_001999.4(FBN2):c.7128T>C (p.Thr2376=)
|
rs1765497836
|
|
NM_001999.4(FBN2):c.7137T>C (p.Leu2379=)
|
|
|
NM_001999.4(FBN2):c.7138G>A (p.Asp2380Asn)
|
rs886059893
|
|
NM_001999.4(FBN2):c.7139A>G (p.Asp2380Gly)
|
rs1765463264
|
|
NM_001999.4(FBN2):c.714G>C (p.Leu238=)
|
|
|
NM_001999.4(FBN2):c.7155C>T (p.Leu2385=)
|
|
|
NM_001999.4(FBN2):c.7158C>T (p.Cys2386=)
|
rs759522946
|
|
NM_001999.4(FBN2):c.7161T>C (p.Phe2387=)
|
|
|
NM_001999.4(FBN2):c.7163C>T (p.Ala2388Val)
|
rs754380350
|
|
NM_001999.4(FBN2):c.7168G>A (p.Val2390Ile)
|
rs768193630
|
|
NM_001999.4(FBN2):c.7169T>C (p.Val2390Ala)
|
|
|
NM_001999.4(FBN2):c.7170A>T (p.Val2390=)
|
|
|
NM_001999.4(FBN2):c.7176G>A (p.Gln2392=)
|
|
|
NM_001999.4(FBN2):c.7184G>A (p.Cys2395Tyr)
|
|
|
NM_001999.4(FBN2):c.7192G>T (p.Ala2398Ser)
|
|
|
NM_001999.4(FBN2):c.7195T>G (p.Ser2399Ala)
|
|
|
NM_001999.4(FBN2):c.7200_7201delinsCC (p.Ser2401Arg)
|
|
|
NM_001999.4(FBN2):c.7201A>G (p.Ser2401Gly)
|
|
|
NM_001999.4(FBN2):c.7204C>T (p.Arg2402Cys)
|
|
|
NM_001999.4(FBN2):c.7205_7206delinsTT (p.Arg2402Leu)
|
|
|
NM_001999.4(FBN2):c.7218T>G (p.Thr2406=)
|
|
|
NM_001999.4(FBN2):c.7241G>A (p.Gly2414Asp)
|
|
|
NM_001999.4(FBN2):c.7241G>T (p.Gly2414Val)
|
rs2126809569
|
|
NM_001999.4(FBN2):c.7250G>T (p.Gly2417Val)
|
rs886038938
|
|
NM_001999.4(FBN2):c.7259A>C (p.His2420Pro)
|
rs2126809547
|
|
NM_001999.4(FBN2):c.7260C>T (p.His2420=)
|
rs775251012
|
|
NM_001999.4(FBN2):c.7273T>C (p.Cys2425Arg)
|
|
|
NM_001999.4(FBN2):c.7278A>G (p.Pro2426=)
|
rs773011673
|
|
NM_001999.4(FBN2):c.7288A>G (p.Thr2430Ala)
|
|
|
NM_001999.4(FBN2):c.7316A>G (p.His2439Arg)
|
|
|
NM_001999.4(FBN2):c.7345+10T>C
|
|
|
NM_001999.4(FBN2):c.7345+6G>A
|
|
|
NM_001999.4(FBN2):c.7345+9T>A
|
|
|
NM_001999.4(FBN2):c.7346-17G>T
|
|
|
NM_001999.4(FBN2):c.7346-3C>T
|
rs1439389862
|
|
NM_001999.4(FBN2):c.7346-8G>A
|
rs2126808910
|
|
NM_001999.4(FBN2):c.736G>A (p.Ala246Thr)
|
rs141088981
|
|
NM_001999.4(FBN2):c.737C>T (p.Ala246Val)
|
|
|
NM_001999.4(FBN2):c.7382C>T (p.Thr2461Ile)
|
rs1019541548
|
|
NM_001999.4(FBN2):c.738G>T (p.Ala246=)
|
|
|
NM_001999.4(FBN2):c.7392G>A (p.Gln2464=)
|
|
|
NM_001999.4(FBN2):c.7396A>C (p.Ile2466Leu)
|
|
|
NM_001999.4(FBN2):c.7404C>G (p.Thr2468=)
|
|
|
NM_001999.4(FBN2):c.7418G>A (p.Arg2473Gln)
|
rs28763925
|
|
NM_001999.4(FBN2):c.7418G>T (p.Arg2473Leu)
|
rs28763925
|
|
NM_001999.4(FBN2):c.7428C>T (p.Cys2476=)
|
rs2126808790
|
|
NM_001999.4(FBN2):c.7429A>G (p.Lys2477Glu)
|
rs1765435966
|
|
NM_001999.4(FBN2):c.7433T>C (p.Val2478Ala)
|
|
|
NM_001999.4(FBN2):c.7444A>G (p.Thr2482Ala)
|
|
|
NM_001999.4(FBN2):c.7449C>T (p.Asp2483=)
|
|
|
NM_001999.4(FBN2):c.7459A>G (p.Thr2487Ala)
|
rs2126808746
|
|
NM_001999.4(FBN2):c.7460C>T (p.Thr2487Ile)
|
|
|
NM_001999.4(FBN2):c.7464T>C (p.Ser2488=)
|
rs1765435027
|
|
NM_001999.4(FBN2):c.7467T>C (p.Cys2489=)
|
|
|
NM_001999.4(FBN2):c.7468A>G (p.Ile2490Val)
|
|
|
NM_001999.4(FBN2):c.7475T>C (p.Leu2492Pro)
|
rs1056653104
|
|
NM_001999.4(FBN2):c.7477G>T (p.Asp2493Tyr)
|
rs779483120
|
|
NM_001999.4(FBN2):c.7487C>A (p.Ser2496Tyr)
|
|
|
NM_001999.4(FBN2):c.7495C>A (p.Pro2499Thr)
|
|
|
NM_001999.4(FBN2):c.74G>A (p.Gly25Asp)
|
rs2112811070
|
|
NM_001999.4(FBN2):c.7521G>T (p.Lys2507Asn)
|
|
|
NM_001999.4(FBN2):c.7533G>T (p.Gly2511=)
|
rs1060503502
|
|
NM_001999.4(FBN2):c.7539T>C (p.Tyr2513=)
|
rs1581181343
|
|
NM_001999.4(FBN2):c.7543T>G (p.Cys2515Gly)
|
|
|
NM_001999.4(FBN2):c.7554G>A (p.Pro2518=)
|
|
|
NM_001999.4(FBN2):c.7560G>C (p.Gly2520=)
|
|
|
NM_001999.4(FBN2):c.7567C>T (p.Leu2523=)
|
rs2126807268
|
|
NM_001999.4(FBN2):c.756G>A (p.Glu252=)
|
rs565550310
|
|
NM_001999.4(FBN2):c.7571A>C (p.Gln2524Pro)
|
|
|
NM_001999.4(FBN2):c.7575G>T (p.Glu2525Asp)
|
|
|
NM_001999.4(FBN2):c.7577A>T (p.Asp2526Val)
|
rs768941456
|
|
NM_001999.4(FBN2):c.7582A>C (p.Lys2528Gln)
|
rs894902794
|
|
NM_001999.4(FBN2):c.7582A>G (p.Lys2528Glu)
|
|
|
NM_001999.4(FBN2):c.7588T>C (p.Cys2530Arg)
|
|
|
NM_001999.4(FBN2):c.7594+14C>T
|
|
|
NM_001999.4(FBN2):c.7595-12C>G
|
|
|
NM_001999.4(FBN2):c.7595-14C>G
|
|
|
NM_001999.4(FBN2):c.7595-15T>C
|
|
|
NM_001999.4(FBN2):c.7595-17C>A
|
rs1353897134
|
|
NM_001999.4(FBN2):c.7611A>G (p.Gln2537=)
|
|
|
NM_001999.4(FBN2):c.7618C>T (p.Gln2540Ter)
|
rs1453328210
|
|
NM_001999.4(FBN2):c.761G>T (p.Cys254Phe)
|
rs755760127
|
|
NM_001999.4(FBN2):c.7626C>G (p.Asn2542Lys)
|
|
|
NM_001999.4(FBN2):c.7630C>T (p.Gln2544Ter)
|
rs1085307066
|
|
NM_001999.4(FBN2):c.764C>T (p.Pro255Leu)
|
rs886059903
|
|
NM_001999.4(FBN2):c.7650C>G (p.Thr2550=)
|
rs140978642
|
|
NM_001999.4(FBN2):c.7650C>T (p.Thr2550=)
|
|
|
NM_001999.4(FBN2):c.7656G>A (p.Gly2552=)
|
rs982288060
|
|
NM_001999.4(FBN2):c.7656G>T (p.Gly2552=)
|
|
|
NM_001999.4(FBN2):c.7657G>T (p.Gly2553Trp)
|
|
|
NM_001999.4(FBN2):c.7658G>A (p.Gly2553Glu)
|
|
|
NM_001999.4(FBN2):c.7658G>C (p.Gly2553Ala)
|
rs764514988
|
|
NM_001999.4(FBN2):c.7658G>T (p.Gly2553Val)
|
|
|
NM_001999.4(FBN2):c.7672T>G (p.Cys2558Gly)
|
rs863223589
|
|
NM_001999.4(FBN2):c.7679C>T (p.Pro2560Leu)
|
|
|
NM_001999.4(FBN2):c.7693C>T (p.His2565Tyr)
|
rs1765342729
|
|
NM_001999.4(FBN2):c.7698C>A (p.His2566Gln)
|
|
|
NM_001999.4(FBN2):c.7704T>C (p.Ala2568=)
|
rs778549338
|
|
NM_001999.4(FBN2):c.7712-8T>G
|
|
|
NM_001999.4(FBN2):c.7727G>T (p.Gly2576Val)
|
rs572453085
|
|
NM_001999.4(FBN2):c.7734A>T (p.Gln2578His)
|
|
|
NM_001999.4(FBN2):c.7744T>C (p.Cys2582Arg)
|
rs2126805299
|
|
NM_001999.4(FBN2):c.7757G>C (p.Gly2586Ala)
|
rs1447205905
|
|
NM_001999.4(FBN2):c.7758A>C (p.Gly2586=)
|
rs1765323936
|
|
NM_001999.4(FBN2):c.7771A>G (p.Thr2591Ala)
|
rs869025429
|
|
NM_001999.4(FBN2):c.7773T>C (p.Thr2591=)
|
rs1554116608
|
|
NM_001999.4(FBN2):c.7787G>T (p.Ser2596Ile)
|
|
|
NM_001999.4(FBN2):c.7818T>C (p.Asp2606=)
|
|
|
NM_001999.4(FBN2):c.7822A>T (p.Thr2608Ser)
|
rs762538141
|
|
NM_001999.4(FBN2):c.7837G>A (p.Glu2613Lys)
|
|
|
NM_001999.4(FBN2):c.7840+10T>C
|
|
|
NM_001999.4(FBN2):c.7840+1G>A
|
|
|
NM_001999.4(FBN2):c.7841-14G>A
|
rs751308498
|
|
NM_001999.4(FBN2):c.7841-3C>T
|
rs1554116417
|
|
NM_001999.4(FBN2):c.7859_7860delinsAA (p.Gly2620Glu)
|
rs1554116412
|
|
NM_001999.4(FBN2):c.7860G>T (p.Gly2620=)
|
rs772818240
|
|
NM_001999.4(FBN2):c.7868G>A (p.Arg2623Lys)
|
|
|
NM_001999.4(FBN2):c.7873C>T (p.Gln2625Ter)
|
rs1554116411
|
|
NM_001999.4(FBN2):c.788G>A (p.Arg263Gln)
|
rs769593495
|
|
NM_001999.4(FBN2):c.7897G>A (p.Gly2633Ser)
|
rs886059892
|
|
NM_001999.4(FBN2):c.78G>C (p.Thr26=)
|
rs1265112696
|
|
NM_001999.4(FBN2):c.78G>T (p.Thr26=)
|
|
|
NM_001999.4(FBN2):c.7900G>A (p.Gly2634Ser)
|
|
|
NM_001999.4(FBN2):c.7906A>C (p.Arg2636=)
|
|
|
NM_001999.4(FBN2):c.7914C>T (p.Gly2638=)
|
|
|
NM_001999.4(FBN2):c.7918C>G (p.Pro2640Ala)
|
rs1060503512
|
|
NM_001999.4(FBN2):c.7959C>A (p.Val2653=)
|
rs773175830
|
|
NM_001999.4(FBN2):c.795C>T (p.Phe265=)
|
|
|
NM_001999.4(FBN2):c.7960G>A (p.Asp2654Asn)
|
|
|
NM_001999.4(FBN2):c.7961A>G (p.Asp2654Gly)
|
|
|
NM_001999.4(FBN2):c.7975T>C (p.Ser2659Pro)
|
rs1765039937
|
|
NM_001999.4(FBN2):c.7994G>C (p.Gly2665Ala)
|
|
|
NM_001999.4(FBN2):c.799C>T (p.Pro267Ser)
|
rs1229950368
|
|
NM_001999.4(FBN2):c.7A>C (p.Arg3=)
|
rs1466844222
|
|
NM_001999.4(FBN2):c.8001T>A (p.Ala2667=)
|
|
|
NM_001999.4(FBN2):c.8014A>G (p.Thr2672Ala)
|
|
|
NM_001999.4(FBN2):c.8016C>A (p.Thr2672=)
|
|
|
NM_001999.4(FBN2):c.8033G>C (p.Cys2678Ser)
|
rs1765038866
|
|
NM_001999.4(FBN2):c.8034C>T (p.Cys2678=)
|
|
|
NM_001999.4(FBN2):c.8035G>A (p.Ala2679Thr)
|
rs763870762
|
|
NM_001999.4(FBN2):c.8035G>T (p.Ala2679Ser)
|
rs763870762
|
|
NM_001999.4(FBN2):c.8040C>T (p.Cys2680=)
|
|
|
NM_001999.4(FBN2):c.8042C>T (p.Pro2681Leu)
|
|
|
NM_001999.4(FBN2):c.8045_8046delinsTC (p.Ser2682Phe)
|
|
|
NM_001999.4(FBN2):c.8049G>T (p.Gly2683=)
|
rs138044126
|
|
NM_001999.4(FBN2):c.8058C>T (p.Phe2686=)
|
rs150734807
|
|
NM_001999.4(FBN2):c.8061C>G (p.Asp2687Glu)
|
rs749888746
|
|
NM_001999.4(FBN2):c.8061C>T (p.Asp2687=)
|
|
|
NM_001999.4(FBN2):c.8061_8067delinsG (p.Asp2687_Phe2689delinsGlu)
|
rs863223597
|
|
NM_001999.4(FBN2):c.806T>C (p.Ile269Thr)
|
rs771008563
|
|
NM_001999.4(FBN2):c.8078G>T (p.Cys2693Phe)
|
rs2126795619
|
|
NM_001999.4(FBN2):c.8080C>T (p.His2694Tyr)
|
rs1387382061
|
|
NM_001999.4(FBN2):c.8082C>A (p.His2694Gln)
|
rs142755118
|
|
NM_001999.4(FBN2):c.8082C>G (p.His2694Gln)
|
rs142755118
|
|
NM_001999.4(FBN2):c.8082C>T (p.His2694=)
|
rs142755118
|
|
NM_001999.4(FBN2):c.8083G>A (p.Asp2695Asn)
|
|
|
NM_001999.4(FBN2):c.8094G>C (p.Glu2698Asp)
|
rs1765035115
|
|
NM_001999.4(FBN2):c.8096G>A (p.Cys2699Tyr)
|
rs2126795584
|
|
NM_001999.4(FBN2):c.8098T>A (p.Ser2700Thr)
|
|
|
NM_001999.4(FBN2):c.8099C>G (p.Ser2700Trp)
|
rs776788539
|
|
NM_001999.4(FBN2):c.809G>A (p.Arg270His)
|
rs148971572
|
|
NM_001999.4(FBN2):c.809G>T (p.Arg270Leu)
|
rs148971572
|
|
NM_001999.4(FBN2):c.80C>A (p.Ala27Asp)
|
|
|
NM_001999.4(FBN2):c.80C>T (p.Ala27Val)
|
|
|
NM_001999.4(FBN2):c.8100G>A (p.Ser2700=)
|
|
|
NM_001999.4(FBN2):c.8100G>C (p.Ser2700=)
|
rs138659121
|
|
NM_001999.4(FBN2):c.8117G>A (p.Cys2706Tyr)
|
|
|
NM_001999.4(FBN2):c.8120A>G (p.Asn2707Ser)
|
rs1182788018
|
|
NM_001999.4(FBN2):c.8127C>G (p.Gly2709=)
|
rs141841206
|
|
NM_001999.4(FBN2):c.812C>G (p.Thr271Ser)
|
rs1754660014
|
|
NM_001999.4(FBN2):c.8132C>G (p.Ser2711Cys)
|
rs758149534
|
|
NM_001999.4(FBN2):c.8138C>T (p.Thr2713Met)
|
rs754101758
|
|
NM_001999.4(FBN2):c.8139G>A (p.Thr2713=)
|
rs1057523293
|
|
NM_001999.4(FBN2):c.8143G>A (p.Gly2715Arg)
|
rs772569905
|
|
NM_001999.4(FBN2):c.8143G>C (p.Gly2715Arg)
|
rs772569905
|
|
NM_001999.4(FBN2):c.8143G>T (p.Gly2715Trp)
|
rs772569905
|
|
NM_001999.4(FBN2):c.8147G>T (p.Gly2716Val)
|
rs1561736199
|
|
NM_001999.4(FBN2):c.8164C>T (p.Pro2722Ser)
|
|
|
NM_001999.4(FBN2):c.8187A>G (p.Gly2729=)
|
|
|
NM_001999.4(FBN2):c.8191G>A (p.Gly2731Ser)
|
rs1765029329
|
|
NM_001999.4(FBN2):c.8192+20C>T
|
|
|
NM_001999.4(FBN2):c.8192+6G>A
|
rs752575354
|
|
NM_001999.4(FBN2):c.8192+7C>A
|
rs376135657
|
|
NM_001999.4(FBN2):c.8193-9T>G
|
|
|
NM_001999.4(FBN2):c.8193C>T (p.Gly2731=)
|
|
|
NM_001999.4(FBN2):c.81C>A (p.Ala27=)
|
|
|
NM_001999.4(FBN2):c.8212G>A (p.Gly2738Arg)
|
rs1764985607
|
|
NM_001999.4(FBN2):c.8226G>A (p.Gly2742=)
|
|
|
NM_001999.4(FBN2):c.8241G>A (p.Leu2747=)
|
rs775766250
|
|
NM_001999.4(FBN2):c.824A>C (p.Gln275Pro)
|
|
|
NM_001999.4(FBN2):c.8251G>A (p.Val2751Ile)
|
|
|
NM_001999.4(FBN2):c.826+18C>G
|
|
|
NM_001999.4(FBN2):c.8261A>G (p.Glu2754Gly)
|
|
|
NM_001999.4(FBN2):c.827-10C>T
|
|
|
NM_001999.4(FBN2):c.827-13T>G
|
|
|
NM_001999.4(FBN2):c.827-2A>G
|
rs1561461125
|
|
NM_001999.4(FBN2):c.827-4G>A
|
|
|
NM_001999.4(FBN2):c.8270T>A (p.Leu2757Gln)
|
|
|
NM_001999.4(FBN2):c.8275C>G (p.Pro2759Ala)
|
rs1158966833
|
|
NM_001999.4(FBN2):c.8283A>G (p.Ala2761=)
|
rs1764983104
|
|
NM_001999.4(FBN2):c.8290G>A (p.Glu2764Lys)
|
|
|
NM_001999.4(FBN2):c.8297A>T (p.Lys2766Ile)
|
rs1764982741
|
|
NM_001999.4(FBN2):c.82G>C (p.Gly28Arg)
|
rs772841538
|
|
NM_001999.4(FBN2):c.8309A>G (p.Tyr2770Cys)
|
rs546129957
|
|
NM_001999.4(FBN2):c.8313T>C (p.Ser2771=)
|
|
|
NM_001999.4(FBN2):c.8315A>C (p.Lys2772Thr)
|
rs1308073420
|
|
NM_001999.4(FBN2):c.8322C>T (p.Asp2774=)
|
rs1554115402
|
|
NM_001999.4(FBN2):c.8323A>G (p.Ser2775Gly)
|
|
|
NM_001999.4(FBN2):c.8327G>A (p.Arg2776Lys)
|
|
|
NM_001999.4(FBN2):c.8331G>A (p.Gln2777=)
|
|
|
NM_001999.4(FBN2):c.834T>C (p.Asp278=)
|
rs2127056960
|
|
NM_001999.4(FBN2):c.8359A>G (p.Thr2787Ala)
|
|
|
NM_001999.4(FBN2):c.835G>A (p.Glu279Lys)
|
rs2127056955
|
|
NM_001999.4(FBN2):c.8360C>G (p.Thr2787Ser)
|
rs1764978341
|
|
NM_001999.4(FBN2):c.8363C>T (p.Ala2788Val)
|
|
|
NM_001999.4(FBN2):c.8364+17C>T
|
|
|
NM_001999.4(FBN2):c.8364+7A>G
|
rs185052980
|
|
NM_001999.4(FBN2):c.8364+8T>C
|
rs1554115371
|
|
NM_001999.4(FBN2):c.8365-13G>A
|
rs779409691
|
|
NM_001999.4(FBN2):c.8365-17T>G
|
|
|
NM_001999.4(FBN2):c.8365-4C>G
|
rs878854480
|
|
NM_001999.4(FBN2):c.8366T>C (p.Val2789Ala)
|
|
|
NM_001999.4(FBN2):c.8374A>G (p.Ile2792Val)
|
|
|
NM_001999.4(FBN2):c.8379C>T (p.Ser2793=)
|
|
|
NM_001999.4(FBN2):c.837A>G (p.Glu279=)
|
rs2127056950
|
|
NM_001999.4(FBN2):c.8383G>A (p.Glu2795Lys)
|
|
|
NM_001999.4(FBN2):c.8391C>G (p.Val2797=)
|
|
|
NM_001999.4(FBN2):c.8392G>A (p.Asp2798Asn)
|
|
|
NM_001999.4(FBN2):c.8396T>C (p.Met2799Thr)
|
|
|
NM_001999.4(FBN2):c.8407G>A (p.Val2803Ile)
|
|
|
NM_001999.4(FBN2):c.8413A>T (p.Met2805Leu)
|
|
|
NM_001999.4(FBN2):c.8414T>G (p.Met2805Arg)
|
|
|
NM_001999.4(FBN2):c.8425C>T (p.Leu2809Phe)
|
rs1764918027
|
|
NM_001999.4(FBN2):c.8430C>A (p.Ser2810=)
|
|
|
NM_001999.4(FBN2):c.8435T>A (p.Leu2812His)
|
|
|
NM_001999.4(FBN2):c.844G>A (p.Ala282Thr)
|
rs772005485
|
|
NM_001999.4(FBN2):c.844G>T (p.Ala282Ser)
|
|
|
NM_001999.4(FBN2):c.8454C>G (p.Ile2818Met)
|
rs2126791949
|
|
NM_001999.4(FBN2):c.8467C>A (p.Pro2823Thr)
|
|
|
NM_001999.4(FBN2):c.8478G>C (p.Gln2826His)
|
rs1161871936
|
|
NM_001999.4(FBN2):c.8493C>T (p.His2831=)
|
|
|
NM_001999.4(FBN2):c.8495T>A (p.Ile2832Asn)
|
|
|
NM_001999.4(FBN2):c.8499T>G (p.Arg2833=)
|
|
|
NM_001999.4(FBN2):c.84C>A (p.Gly28=)
|
|
|
NM_001999.4(FBN2):c.8501dup (p.Tyr2834Ter)
|
rs1060503503
|
|
NM_001999.4(FBN2):c.8506A>G (p.Ile2836Val)
|
rs1249852107
|
|
NM_001999.4(FBN2):c.8508C>T (p.Ile2836=)
|
rs1764914729
|
|
NM_001999.4(FBN2):c.8517G>C (p.Gly2839=)
|
rs1764914519
|
|
NM_001999.4(FBN2):c.8521G>A (p.Asp2841Asn)
|
|
|
NM_001999.4(FBN2):c.8527A>G (p.Ser2843Gly)
|
rs1764914190
|
|
NM_001999.4(FBN2):c.8528_8529delinsTT (p.Ser2843Ile)
|
rs2126791814
|
|
NM_001999.4(FBN2):c.8529C>A (p.Ser2843Arg)
|
|
|
NM_001999.4(FBN2):c.8529C>T (p.Ser2843=)
|
|
|
NM_001999.4(FBN2):c.8536C>T (p.Arg2846Cys)
|
|
|
NM_001999.4(FBN2):c.8537G>T (p.Arg2846Leu)
|
rs200345491
|
|
NM_001999.4(FBN2):c.8538C>T (p.Arg2846=)
|
|
|
NM_001999.4(FBN2):c.853G>C (p.Gly285Arg)
|
rs2127056896
|
|
NM_001999.4(FBN2):c.8541C>G (p.Ile2847Met)
|
rs62374973
|
|
NM_001999.4(FBN2):c.8543A>G (p.His2848Arg)
|
rs1291203524
|
|
NM_001999.4(FBN2):c.8544C>T (p.His2848=)
|
|
|
NM_001999.4(FBN2):c.8547A>G (p.Gln2849=)
|
rs1561733846
|
|
NM_001999.4(FBN2):c.8552A>G (p.Asn2851Ser)
|
rs886059891
|
|
NM_001999.4(FBN2):c.8556G>A (p.Gly2852=)
|
|
|
NM_001999.4(FBN2):c.8557C>T (p.Leu2853Phe)
|
|
|
NM_001999.4(FBN2):c.8559C>T (p.Leu2853=)
|
rs778576181
|
|
NM_001999.4(FBN2):c.857T>C (p.Ile286Thr)
|
|
|
NM_001999.4(FBN2):c.8584A>C (p.Lys2862Gln)
|
|
|
NM_001999.4(FBN2):c.8585A>C (p.Lys2862Thr)
|
|
|
NM_001999.4(FBN2):c.8587C>T (p.Leu2863Phe)
|
|
|
NM_001999.4(FBN2):c.8589C>T (p.Leu2863=)
|
rs886038784
|
|
NM_001999.4(FBN2):c.8606C>A (p.Thr2869Lys)
|
rs762956345
|
|
NM_001999.4(FBN2):c.8607A>G (p.Thr2869=)
|
|
|
NM_001999.4(FBN2):c.8623A>G (p.Ile2875Val)
|
rs1554115164
|
|
NM_001999.4(FBN2):c.8635AAG[2] (p.Lys2881del)
|
|
|
NM_001999.4(FBN2):c.8639A>G (p.Lys2880Arg)
|
rs1367710207
|
|
NM_001999.4(FBN2):c.8664G>C (p.Glu2888Asp)
|
|
|
NM_001999.4(FBN2):c.8666G>A (p.Ser2889Asn)
|
rs2126791602
|
|
NM_001999.4(FBN2):c.866G>A (p.Gly289Glu)
|
rs1754069364
|
|
NM_001999.4(FBN2):c.8677G>A (p.Asp2893Asn)
|
rs748874308
|
|
NM_001999.4(FBN2):c.8681A>G (p.Tyr2894Cys)
|
rs779659640
|
|
NM_001999.4(FBN2):c.8688A>G (p.Leu2896=)
|
rs1194973560
|
|
NM_001999.4(FBN2):c.8695C>G (p.Leu2899Val)
|
|
|
NM_001999.4(FBN2):c.8703G>A (p.Glu2901=)
|
rs1374026282
|
|
NM_001999.4(FBN2):c.8729A>G (p.Gln2910Arg)
|
rs1764904392
|
|
NM_001999.4(FBN2):c.872A>C (p.Asn291Thr)
|
rs1754069147
|
|
NM_001999.4(FBN2):c.8731C>A (p.Leu2911Ile)
|
rs887275019
|
|
NM_001999.4(FBN2):c.8734T>C (p.Tyr2912His)
|
|
|
NM_001999.4(FBN2):c.8737T>G (p.Ter2913Glu)
|
|
|
NM_001999.4(FBN2):c.875G>C (p.Cys292Ser)
|
|
|
NM_001999.4(FBN2):c.878T>C (p.Ile293Thr)
|
|
|
NM_001999.4(FBN2):c.89C>T (p.Pro30Leu)
|
|
|
NM_001999.4(FBN2):c.905G>A (p.Arg302Lys)
|
|
|
NM_001999.4(FBN2):c.905G>C (p.Arg302Thr)
|
rs863223616
|
|
NM_001999.4(FBN2):c.906A>T (p.Arg302Ser)
|
rs1554069994
|
|
NM_001999.4(FBN2):c.91C>T (p.Gln31Ter)
|
|
|
NM_001999.4(FBN2):c.924A>G (p.Lys308=)
|
|
|
NM_001999.4(FBN2):c.924A>T (p.Lys308Asn)
|
|
|
NM_001999.4(FBN2):c.930T>A (p.Ser310Arg)
|
|
|
NM_001999.4(FBN2):c.93G>C (p.Gln31His)
|
rs371491169
|
|
NM_001999.4(FBN2):c.952+14C>G
|
|
|
NM_001999.4(FBN2):c.952+3G>T
|
rs1554069982
|
|
NM_001999.4(FBN2):c.952+7CT[2]
|
rs750915525
|
|
NM_001999.4(FBN2):c.953-10C>T
|
rs2127000191
|
|
NM_001999.4(FBN2):c.953-14C>T
|
|
|
NM_001999.4(FBN2):c.953-18_953-16del
|
|
|
NM_001999.4(FBN2):c.953-9del
|
rs757659311
|
|
NM_001999.4(FBN2):c.960T>C (p.Asp320=)
|
rs1581270421
|
|
NM_001999.4(FBN2):c.969C>T (p.Ser323=)
|
rs1554067083
|
|
NM_001999.4(FBN2):c.991A>G (p.Thr331Ala)
|
|
|
NM_001999.4(FBN2):c.994G>A (p.Gly332Ser)
|
rs2127000101
|
|
NM_001999.4(FBN2):c.995G>T (p.Gly332Val)
|
|
|
NM_003036.4(SKI):c.100G>A (p.Gly34Ser)
|
rs387907306
|
|
NM_003036.4(SKI):c.100G>T (p.Gly34Cys)
|
rs387907306
|
|
NM_003036.4(SKI):c.1015A>G (p.Thr339Ala)
|
|
|
NM_003036.4(SKI):c.1019C>T (p.Ser340Phe)
|
rs557788926
|
|
NM_003036.4(SKI):c.101G>A (p.Gly34Asp)
|
rs387907305
|
|
NM_003036.4(SKI):c.101G>T (p.Gly34Val)
|
rs387907305
|
|
NM_003036.4(SKI):c.1025A>T (p.Gln342Leu)
|
rs377336741
|
|
NM_003036.4(SKI):c.1030C>T (p.Pro344Ser)
|
|
|
NM_003036.4(SKI):c.1035G>A (p.Ala345=)
|
|
|
NM_003036.4(SKI):c.103C>G (p.Pro35Ala)
|
|
|
NM_003036.4(SKI):c.103C>T (p.Pro35Ser)
|
rs397514590
|
|
NM_003036.4(SKI):c.1041C>G (p.Ser347=)
|
|
|
NM_003036.4(SKI):c.1043A>C (p.Glu348Ala)
|
|
|
NM_003036.4(SKI):c.104C>A (p.Pro35Gln)
|
rs397514589
|
|
NM_003036.4(SKI):c.104C>G (p.Pro35Arg)
|
rs397514589
|
|
NM_003036.4(SKI):c.1054C>A (p.Pro352Thr)
|
rs755862763
|
|
NM_003036.4(SKI):c.1055C>T (p.Pro352Leu)
|
|
|
NM_003036.4(SKI):c.1056G>A (p.Pro352=)
|
|
|
NM_003036.4(SKI):c.1057T>C (p.Ser353Pro)
|
|
|
NM_003036.4(SKI):c.1061G>T (p.Ser354Ile)
|
|
|
NM_003036.4(SKI):c.1067T>A (p.Leu356Gln)
|
rs1640467596
|
|
NM_003036.4(SKI):c.1068G>T (p.Leu356=)
|
rs1057523408
|
|
NM_003036.4(SKI):c.106G>C (p.Ala36Pro)
|
rs2100789569
|
|
NM_003036.4(SKI):c.1076T>C (p.Leu359Ser)
|
|
|
NM_003036.4(SKI):c.1087T>A (p.Ser363Thr)
|
|
|
NM_003036.4(SKI):c.1091A>T (p.Asn364Ile)
|
rs763338270
|
|
NM_003036.4(SKI):c.1095+10G>A
|
|
|
NM_003036.4(SKI):c.1095+11G>A
|
|
|
NM_003036.4(SKI):c.1095+17C>T
|
|
|
NM_003036.4(SKI):c.1095+20G>T
|
|
|
NM_003036.4(SKI):c.1095+5T>C
|
rs2100916508
|
|
NM_003036.4(SKI):c.1095+6G>A
|
|
|
NM_003036.4(SKI):c.1095G>A (p.Lys365=)
|
|
|
NM_003036.4(SKI):c.1096-15A>G
|
|
|
NM_003036.4(SKI):c.1096-6C>G
|
|
|
NM_003036.4(SKI):c.1096-8C>G
|
|
|
NM_003036.4(SKI):c.1096A>C (p.Ser366Arg)
|
rs1269741981
|
|
NM_003036.4(SKI):c.10G>C (p.Ala4Pro)
|
rs1638560343
|
|
NM_003036.4(SKI):c.1101G>T (p.Leu367=)
|
rs1411024116
|
|
NM_003036.4(SKI):c.1104C>T (p.Gly368=)
|
|
|
NM_003036.4(SKI):c.1114C>T (p.Pro372Ser)
|
|
|
NM_003036.4(SKI):c.1117C>G (p.Arg373Gly)
|
rs749507746
|
|
NM_003036.4(SKI):c.111T>C (p.Ala37=)
|
rs2100789581
|
|
NM_003036.4(SKI):c.1123C>T (p.Arg375Cys)
|
rs1038237858
|
|
NM_003036.4(SKI):c.1125C>A (p.Arg375=)
|
|
|
NM_003036.4(SKI):c.1126C>T (p.Leu376Phe)
|
|
|
NM_003036.4(SKI):c.1128C>A (p.Leu376=)
|
|
|
NM_003036.4(SKI):c.1149C>G (p.Ser383=)
|
|
|
NM_003036.4(SKI):c.1150C>T (p.Pro384Ser)
|
rs1242691039
|
|
NM_003036.4(SKI):c.1152C>G (p.Pro384=)
|
rs200160702
|
|
NM_003036.4(SKI):c.1166G>T (p.Ser389Ile)
|
|
|
NM_003036.4(SKI):c.1177C>T (p.Leu393Phe)
|
|
|
NM_003036.4(SKI):c.117G>C (p.Ser39=)
|
|
|
NM_003036.4(SKI):c.1185A>G (p.Pro395=)
|
|
|
NM_003036.4(SKI):c.1189C>T (p.Leu397Phe)
|
rs371268096
|
|
NM_003036.4(SKI):c.1192C>T (p.Pro398Ser)
|
rs1640476669
|
|
NM_003036.4(SKI):c.1194G>A (p.Pro398=)
|
|
|
NM_003036.4(SKI):c.11C>T (p.Ala4Val)
|
rs1085307767
|
|
NM_003036.4(SKI):c.1205G>A (p.Arg402Gln)
|
rs557289756
|
|
NM_003036.4(SKI):c.1208A>C (p.Asp403Ala)
|
|
|
NM_003036.4(SKI):c.1211+2T>G
|
|
|
NM_003036.4(SKI):c.1211+8G>C
|
rs1411361590
|
|
NM_003036.4(SKI):c.1211+9G>T
|
|
|
NM_003036.4(SKI):c.1212-16C>T
|
|
|
NM_003036.4(SKI):c.1212-3C>T
|
|
|
NM_003036.4(SKI):c.1212-6C>T
|
rs752765206
|
|
NM_003036.4(SKI):c.1212-7C>T
|
|
|
NM_003036.4(SKI):c.1215C>G (p.Phe405Leu)
|
rs2100918174
|
|
NM_003036.4(SKI):c.1230C>T (p.Ser410=)
|
|
|
NM_003036.4(SKI):c.123C>G (p.Arg41=)
|
rs1233566903
|
|
NM_003036.4(SKI):c.123C>T (p.Arg41=)
|
|
|
NM_003036.4(SKI):c.1240G>T (p.Ala414Ser)
|
|
|
NM_003036.4(SKI):c.1248G>A (p.Ala416=)
|
rs768317594
|
|
NM_003036.4(SKI):c.1248G>T (p.Ala416=)
|
|
|
NM_003036.4(SKI):c.1255G>A (p.Val419Met)
|
|
|
NM_003036.4(SKI):c.1293C>T (p.Ser431=)
|
rs2100918389
|
|
NM_003036.4(SKI):c.1298C>G (p.Pro433Arg)
|
|
|
NM_003036.4(SKI):c.1298C>T (p.Pro433Leu)
|
rs748787050
|
|
NM_003036.4(SKI):c.1298del (p.Pro433fs)
|
|
|
NM_003036.4(SKI):c.1306G>A (p.Ala436Thr)
|
rs1247637685
|
|
NM_003036.4(SKI):c.1307C>T (p.Ala436Val)
|
|
|
NM_003036.4(SKI):c.1308C>A (p.Ala436=)
|
|
|
NM_003036.4(SKI):c.1308C>G (p.Ala436=)
|
rs139034124
|
|
NM_003036.4(SKI):c.1311C>G (p.Ala437=)
|
rs140889128
|
|
NM_003036.4(SKI):c.1311C>T (p.Ala437=)
|
rs140889128
|
|
NM_003036.4(SKI):c.1315G>T (p.Val439Phe)
|
rs575093513
|
|
NM_003036.4(SKI):c.1322G>A (p.Arg441Gln)
|
|
|
NM_003036.4(SKI):c.1325C>T (p.Ala442Val)
|
|
|
NM_003036.4(SKI):c.1326C>T (p.Ala442=)
|
|
|
NM_003036.4(SKI):c.1327C>G (p.Pro443Ala)
|
rs1569860183
|
|
NM_003036.4(SKI):c.1328C>T (p.Pro443Leu)
|
rs1640493986
|
|
NM_003036.4(SKI):c.1346G>C (p.Cys449Ser)
|
rs2100918643
|
|
NM_003036.4(SKI):c.1350C>T (p.Thr450=)
|
|
|
NM_003036.4(SKI):c.1354C>A (p.Pro452Thr)
|
rs1417738788
|
|
NM_003036.4(SKI):c.1363C>T (p.Arg455Trp)
|
rs1640495570
|
|
NM_003036.4(SKI):c.1376T>G (p.Val459Gly)
|
|
|
NM_003036.4(SKI):c.137C>T (p.Ala46Val)
|
|
|
NM_003036.4(SKI):c.1388G>A (p.Gly463Glu)
|
rs1640496768
|
|
NM_003036.4(SKI):c.138C>G (p.Ala46=)
|
rs745527890
|
|
NM_003036.4(SKI):c.1391C>T (p.Ala464Val)
|
|
|
NM_003036.4(SKI):c.1394C>T (p.Pro465Leu)
|
|
|
NM_003036.4(SKI):c.139T>G (p.Tyr47Asp)
|
|
|
NM_003036.4(SKI):c.1408C>T (p.Pro470Ser)
|
|
|
NM_003036.4(SKI):c.1410C>A (p.Pro470=)
|
|
|
NM_003036.4(SKI):c.1411G>A (p.Val471Met)
|
rs745717087
|
|
NM_003036.4(SKI):c.1415C>T (p.Ala472Val)
|
|
|
NM_003036.4(SKI):c.1418C>T (p.Ala473Val)
|
rs1198385228
|
|
NM_003036.4(SKI):c.1419C>T (p.Ala473=)
|
rs748183781
|
|
NM_003036.4(SKI):c.1434G>C (p.Lys478Asn)
|
|
|
NM_003036.4(SKI):c.1439CGGAGG[1] (p.Ala482_Glu483del)
|
rs762410895
|
|
NM_003036.4(SKI):c.1449G>A (p.Glu483=)
|
|
|
NM_003036.4(SKI):c.144G>A (p.Lys48=)
|
|
|
NM_003036.4(SKI):c.1469A>G (p.Glu490Gly)
|
|
|
NM_003036.4(SKI):c.1474+14G>A
|
rs780072344
|
|
NM_003036.4(SKI):c.1474+19C>G
|
rs2100919153
|
|
NM_003036.4(SKI):c.1474+7del
|
rs1640502180
|
|
NM_003036.4(SKI):c.1474+8_1474+9del
|
|
|
NM_003036.4(SKI):c.1475-17C>T
|
|
|
NM_003036.4(SKI):c.1475T>C (p.Phe492Ser)
|
|
|
NM_003036.4(SKI):c.1477A>T (p.Thr493Ser)
|
|
|
NM_003036.4(SKI):c.1478CCT[2] (p.Ser495del)
|
|
|
NM_003036.4(SKI):c.1479C>T (p.Thr493=)
|
rs754922214
|
|
NM_003036.4(SKI):c.1482C>T (p.Ser494=)
|
|
|
NM_003036.4(SKI):c.1485_1487del (p.Leu496del)
|
rs1640510054
|
|
NM_003036.4(SKI):c.1488G>C (p.Leu496Phe)
|
|
|
NM_003036.4(SKI):c.1493C>T (p.Ser498Leu)
|
|
|
NM_003036.4(SKI):c.1505C>G (p.Pro502Arg)
|
|
|
NM_003036.4(SKI):c.1512T>G (p.Phe504Leu)
|
|
|
NM_003036.4(SKI):c.1514C>T (p.Thr505Ile)
|
|
|
NM_003036.4(SKI):c.1528G>T (p.Ala510Ser)
|
|
|
NM_003036.4(SKI):c.1539G>T (p.Leu513=)
|
|
|
NM_003036.4(SKI):c.1555C>T (p.Arg519Cys)
|
rs775800782
|
|
NM_003036.4(SKI):c.1556G>T (p.Arg519Leu)
|
rs376322470
|
|
NM_003036.4(SKI):c.1564C>T (p.Pro522Ser)
|
rs774937962
|
|
NM_003036.4(SKI):c.1566C>G (p.Pro522=)
|
|
|
NM_003036.4(SKI):c.1567T>G (p.Ser523Ala)
|
|
|
NM_003036.4(SKI):c.1569G>C (p.Ser523=)
|
rs767052019
|
|
NM_003036.4(SKI):c.157A>C (p.Lys53Gln)
|
|
|
NM_003036.4(SKI):c.1581TGC[1] (p.Ala530del)
|
rs863223725
|
|
NM_003036.4(SKI):c.1582G>C (p.Ala528Pro)
|
|
|
NM_003036.4(SKI):c.1582G>T (p.Ala528Ser)
|
|
|
NM_003036.4(SKI):c.1587G>C (p.Ala529=)
|
rs542301067
|
|
NM_003036.4(SKI):c.1589C>T (p.Ala530Val)
|
|
|
NM_003036.4(SKI):c.1592C>T (p.Pro531Leu)
|
|
|
NM_003036.4(SKI):c.1601C>T (p.Ala534Val)
|
|
|
NM_003036.4(SKI):c.160G>A (p.Glu54Lys)
|
|
|
NM_003036.4(SKI):c.1637G>T (p.Arg546Leu)
|
|
|
NM_003036.4(SKI):c.163G>A (p.Ala55Thr)
|
rs769506718
|
|
NM_003036.4(SKI):c.1642G>T (p.Ala548Ser)
|
rs1434790266
|
|
NM_003036.4(SKI):c.1647G>C (p.Leu549=)
|
|
|
NM_003036.4(SKI):c.164C>T (p.Ala55Val)
|
|
|
NM_003036.4(SKI):c.1651G>T (p.Gly551Cys)
|
rs1225179301
|
|
NM_003036.4(SKI):c.1653C>T (p.Gly551=)
|
|
|
NM_003036.4(SKI):c.1654G>C (p.Gly552Arg)
|
|
|
NM_003036.4(SKI):c.1677A>G (p.Lys559=)
|
rs1569862103
|
|
NM_003036.4(SKI):c.1686C>T (p.Phe562=)
|
|
|
NM_003036.4(SKI):c.1690C>G (p.His564Asp)
|
rs1640518223
|
|
NM_003036.4(SKI):c.1706T>C (p.Met569Thr)
|
|
|
NM_003036.4(SKI):c.1710C>A (p.Arg570=)
|
|
|
NM_003036.4(SKI):c.1715A>G (p.Lys572Arg)
|
|
|
NM_003036.4(SKI):c.1726A>C (p.Lys576Gln)
|
|
|
NM_003036.4(SKI):c.1728G>A (p.Lys576=)
|
|
|
NM_003036.4(SKI):c.1738G>A (p.Ala580Thr)
|
rs1640519904
|
|
NM_003036.4(SKI):c.173_178dup (p.Ala59_Val60insAlaAla)
|
|
|
NM_003036.4(SKI):c.1741C>G (p.Leu581Val)
|
|
|
NM_003036.4(SKI):c.1751A>G (p.Lys584Arg)
|
rs1569862379
|
|
NM_003036.4(SKI):c.1754G>A (p.Arg585His)
|
rs1251950898
|
|
NM_003036.4(SKI):c.1767+1G>C
|
|
|
NM_003036.4(SKI):c.1767+8G>A
|
rs755258323
|
|
NM_003036.4(SKI):c.1768-20G>T
|
rs375518657
|
|
NM_003036.4(SKI):c.1768-3C>T
|
|
|
NM_003036.4(SKI):c.1768-4C>G
|
|
|
NM_003036.4(SKI):c.1768-8G>T
|
|
|
NM_003036.4(SKI):c.1774G>C (p.Glu592Gln)
|
rs1569865485
|
|
NM_003036.4(SKI):c.1775_1789del (p.Glu592_Val596del)
|
rs1640564388
|
|
NM_003036.4(SKI):c.1784G>T (p.Arg595Leu)
|
|
|
NM_003036.4(SKI):c.1785C>G (p.Arg595=)
|
|
|
NM_003036.4(SKI):c.1786G>T (p.Val596Leu)
|
rs774196267
|
|
NM_003036.4(SKI):c.178G>C (p.Val60Leu)
|
|
|
NM_003036.4(SKI):c.1807C>T (p.Arg603Trp)
|
rs1640565489
|
|
NM_003036.4(SKI):c.1818G>A (p.Thr606=)
|
rs377110260
|
|
NM_003036.4(SKI):c.1827G>A (p.Lys609=)
|
rs1324710541
|
|
NM_003036.4(SKI):c.1828C>T (p.Arg610Cys)
|
rs863223727
|
|
NM_003036.4(SKI):c.182C>T (p.Pro61Leu)
|
rs1557806444
|
|
NM_003036.4(SKI):c.183G>C (p.Pro61=)
|
rs774187595
|
|
NM_003036.4(SKI):c.183G>T (p.Pro61=)
|
|
|
NM_003036.4(SKI):c.1848C>A (p.Ile616=)
|
rs1044806468
|
|
NM_003036.4(SKI):c.1848C>G (p.Ile616Met)
|
rs1044806468
|
|
NM_003036.4(SKI):c.184G>T (p.Ala62Ser)
|
|
|
NM_003036.4(SKI):c.1861G>A (p.Ala621Thr)
|
|
|
NM_003036.4(SKI):c.1863C>T (p.Ala621=)
|
rs200702159
|
|
NM_003036.4(SKI):c.1866G>C (p.Glu622Asp)
|
|
|
NM_003036.4(SKI):c.1871AGA[2] (p.Lys626del)
|
rs863223726
|
|
NM_003036.4(SKI):c.1879A>G (p.Met627Val)
|
rs2100924200
|
|
NM_003036.4(SKI):c.1887G>A (p.Glu629=)
|
rs771953750
|
|
NM_003036.4(SKI):c.1890C>A (p.Ala630=)
|
rs773151547
|
|
NM_003036.4(SKI):c.1890C>T (p.Ala630=)
|
rs773151547
|
|
NM_003036.4(SKI):c.189G>A (p.Pro63=)
|
|
|
NM_003036.4(SKI):c.1901G>A (p.Arg634Gln)
|
|
|
NM_003036.4(SKI):c.190_191delinsTC (p.Val64Ser)
|
|
|
NM_003036.4(SKI):c.1913A>G (p.Lys638Arg)
|
|
|
NM_003036.4(SKI):c.1918G>A (p.Glu640Lys)
|
rs1640570925
|
|
NM_003036.4(SKI):c.191_196dup (p.Val64_Pro65dup)
|
rs1553189874
|
|
NM_003036.4(SKI):c.1923G>T (p.Leu641=)
|
rs199666240
|
|
NM_003036.4(SKI):c.1932G>A (p.Ala644=)
|
rs1057521646
|
|
NM_003036.4(SKI):c.1942C>G (p.Arg648Gly)
|
rs555623960
|
|
NM_003036.4(SKI):c.1950C>T (p.Cys650=)
|
|
|
NM_003036.4(SKI):c.195_196delinsAC (p.Ala66Pro)
|
|
|
NM_003036.4(SKI):c.1965G>A (p.Glu655=)
|
rs1475570086
|
|
NM_003036.4(SKI):c.1966_1967insTCCCAGCCGGAAAGGCCTTGGAGCAGAAGCCAGGCCCGGGACCACGTTCCGTGCGTGCCCCCCCGA (p.Ala656delinsValProAlaGlyLysAlaLeuGluGlnLysProGlyProGlyProArgSerValArgAlaProProThr)
|
|
|
NM_003036.4(SKI):c.196G>A (p.Ala66Thr)
|
|
|
NM_003036.4(SKI):c.196G>C (p.Ala66Pro)
|
rs1212316098
|
|
NM_003036.4(SKI):c.1971C>T (p.Gly657=)
|
rs878854598
|
|
NM_003036.4(SKI):c.1972C>T (p.Arg658Cys)
|
|
|
NM_003036.4(SKI):c.1977G>A (p.Leu659=)
|
rs1298626276
|
|
NM_003036.4(SKI):c.1981G>A (p.Ala661Thr)
|
|
|
NM_003036.4(SKI):c.1983C>T (p.Ala661=)
|
rs973734662
|
|
NM_003036.4(SKI):c.1993G>A (p.Ala665Thr)
|
rs1569866460
|
|
NM_003036.4(SKI):c.1998+10T>C
|
|
|
NM_003036.4(SKI):c.1998+1G>T
|
|
|
NM_003036.4(SKI):c.1998+6C>T
|
rs1265118842
|
|
NM_003036.4(SKI):c.1999-12G>T
|
|
|
NM_003036.4(SKI):c.1999-14C>G
|
|
|
NM_003036.4(SKI):c.1999-14C>T
|
|
|
NM_003036.4(SKI):c.1999-7C>T
|
|
|
NM_003036.4(SKI):c.1999-9C>G
|
rs369496789
|
|
NM_003036.4(SKI):c.199_200delinsAA (p.Ala67Asn)
|
|
|
NM_003036.4(SKI):c.2006A>G (p.Asp669Gly)
|
|
|
NM_003036.4(SKI):c.2007C>G (p.Asp669Glu)
|
rs750838146
|
|
NM_003036.4(SKI):c.2007C>T (p.Asp669=)
|
rs750838146
|
|
NM_003036.4(SKI):c.2009T>G (p.Leu670Arg)
|
rs1060502673
|
|
NM_003036.4(SKI):c.200C>T (p.Ala67Val)
|
|
|
NM_003036.4(SKI):c.2011C>G (p.Gln671Glu)
|
|
|
NM_003036.4(SKI):c.2027A>G (p.His676Arg)
|
|
|
NM_003036.4(SKI):c.2028C>G (p.His676Gln)
|
rs1203179478
|
|
NM_003036.4(SKI):c.2032G>A (p.Glu678Lys)
|
|
|
NM_003036.4(SKI):c.2043G>C (p.Arg681=)
|
rs2100925770
|
|
NM_003036.4(SKI):c.2053C>T (p.Arg685Trp)
|
|
|
NM_003036.4(SKI):c.2057C>G (p.Ala686Gly)
|
|
|
NM_003036.4(SKI):c.2057_2071dup (p.Arg690_Glu691insAlaAspLeuLeuArg)
|
rs2100925789
|
|
NM_003036.4(SKI):c.205G>C (p.Glu69Gln)
|
|
|
NM_003036.4(SKI):c.2061C>A (p.Asp687Glu)
|
rs1021794039
|
|
NM_003036.4(SKI):c.2061C>T (p.Asp687=)
|
|
|
NM_003036.4(SKI):c.2067G>A (p.Leu689=)
|
|
|
NM_003036.4(SKI):c.2068C>T (p.Arg690Trp)
|
|
|
NM_003036.4(SKI):c.2069G>A (p.Arg690Gln)
|
|
|
NM_003036.4(SKI):c.206A>G (p.Glu69Gly)
|
|
|
NM_003036.4(SKI):c.2076C>T (p.Arg692=)
|
|
|
NM_003036.4(SKI):c.207G>A (p.Glu69=)
|
|
|
NM_003036.4(SKI):c.2081C>T (p.Ala694Val)
|
|
|
NM_003036.4(SKI):c.2082C>T (p.Ala694=)
|
|
|
NM_003036.4(SKI):c.2083C>T (p.Arg695Trp)
|
rs1347331671
|
|
NM_003036.4(SKI):c.2091C>T (p.His697=)
|
rs1487847272
|
|
NM_003036.4(SKI):c.2092C>G (p.Leu698Val)
|
rs766929334
|
|
NM_003036.4(SKI):c.2103G>A (p.Val701=)
|
|
|
NM_003036.4(SKI):c.2109G>A (p.Lys703=)
|
|
|
NM_003036.4(SKI):c.2111A>G (p.Glu704Gly)
|
rs1553201549
|
|
NM_003036.4(SKI):c.2112_2113delinsAT (p.Glu704_Leu705=)
|
rs2100925995
|
|
NM_003036.4(SKI):c.2120A>G (p.Glu707Gly)
|
rs2100926034
|
|
NM_003036.4(SKI):c.2139C>T (p.Ala713=)
|
|
|
NM_003036.4(SKI):c.2141G>T (p.Arg714Leu)
|
|
|
NM_003036.4(SKI):c.2142C>T (p.Arg714=)
|
rs1569868248
|
|
NM_003036.4(SKI):c.2144C>T (p.Pro715Leu)
|
rs1640595714
|
|
NM_003036.4(SKI):c.2146G>A (p.Glu716Lys)
|
rs1640595885
|
|
NM_003036.4(SKI):c.214C>T (p.Pro72Ser)
|
|
|
NM_003036.4(SKI):c.2152_*3dup (p.Ala717_Ter729=)
|
rs1557854927
|
|
NM_003036.4(SKI):c.2153C>G (p.Ala718Gly)
|
rs863223721
|
|
NM_003036.4(SKI):c.2153C>T (p.Ala718Val)
|
|
|
NM_003036.4(SKI):c.2154_*4dup (p.Ala718_Ter729=)
|
rs1308786369
|
|
NM_003036.4(SKI):c.2165G>T (p.Gly722Val)
|
rs1488554459
|
|
NM_003036.4(SKI):c.2166C>T (p.Gly722=)
|
|
|
NM_003036.4(SKI):c.2169T>G (p.Ala723=)
|
|
|
NM_003036.4(SKI):c.2172G>C (p.Ala724=)
|
rs879070309
|
|
NM_003036.4(SKI):c.2173G>C (p.Glu725Gln)
|
rs1640597058
|
|
NM_003036.4(SKI):c.2174A>G (p.Glu725Gly)
|
|
|
NM_003036.4(SKI):c.2175G>A (p.Glu725=)
|
rs1381348497
|
|
NM_003036.4(SKI):c.217G>A (p.Val73Met)
|
|
|
NM_003036.4(SKI):c.2182C>G (p.Pro728Ala)
|
|
|
NM_003036.4(SKI):c.2184G>A (p.Pro728=)
|
|
|
NM_003036.4(SKI):c.2185del (p.Ter729ArgextTer?)
|
|
|
NM_003036.4(SKI):c.2186_*9dup (p.Ter729=)
|
rs1640597997
|
|
NM_003036.4(SKI):c.219G>A (p.Val73=)
|
rs1638568131
|
|
NM_003036.4(SKI):c.220C>G (p.Leu74Val)
|
|
|
NM_003036.4(SKI):c.225C>T (p.His75=)
|
rs1553189880
|
|
NM_003036.4(SKI):c.228G>A (p.Leu76=)
|
rs1297091418
|
|
NM_003036.4(SKI):c.229C>T (p.Pro77Ser)
|
rs1370601989
|
|
NM_003036.4(SKI):c.22C>G (p.Arg8Gly)
|
rs1254990952
|
|
NM_003036.4(SKI):c.231C>T (p.Pro77=)
|
rs1638568541
|
|
NM_003036.4(SKI):c.237C>G (p.Ile79Met)
|
|
|
NM_003036.4(SKI):c.240GCC[5] (p.Pro84dup)
|
rs746731483
|
|
NM_003036.4(SKI):c.241C>G (p.Pro81Ala)
|
rs778291636
|
|
NM_003036.4(SKI):c.248C>T (p.Pro83Leu)
|
rs1060502672
|
|
NM_003036.4(SKI):c.254T>G (p.Val85Gly)
|
|
|
NM_003036.4(SKI):c.261C>A (p.Pro87=)
|
rs1257107710
|
|
NM_003036.4(SKI):c.265C>T (p.Pro89Ser)
|
rs1638569809
|
|
NM_003036.4(SKI):c.267C>T (p.Pro89=)
|
|
|
NM_003036.4(SKI):c.270C>T (p.Phe90=)
|
rs1436770788
|
|
NM_003036.4(SKI):c.271T>G (p.Phe91Val)
|
rs1638570021
|
|
NM_003036.4(SKI):c.272T>G (p.Phe91Cys)
|
|
|
NM_003036.4(SKI):c.278C>T (p.Pro93Leu)
|
rs749071609
|
|
NM_003036.4(SKI):c.279G>A (p.Pro93=)
|
rs1638570161
|
|
NM_003036.4(SKI):c.27C>A (p.Gly9=)
|
rs1476360335
|
|
NM_003036.4(SKI):c.280_291del (p.Ser94_Ser97del)
|
rs398122914
|
|
NM_003036.4(SKI):c.282C>G (p.Ser94=)
|
|
|
NM_003036.4(SKI):c.283_291del (p.Asp95_Ser97del)
|
rs398122889
|
|
NM_003036.4(SKI):c.304G>A (p.Glu102Lys)
|
rs1638570854
|
|
NM_003036.4(SKI):c.311T>C (p.Val104Ala)
|
rs886039149
|
|
NM_003036.4(SKI):c.312A>G (p.Val104=)
|
rs368195821
|
|
NM_003036.4(SKI):c.313C>T (p.Leu105=)
|
|
|
NM_003036.4(SKI):c.318A>G (p.Glu106=)
|
rs564817940
|
|
NM_003036.4(SKI):c.320G>A (p.Gly107Asp)
|
|
|
NM_003036.4(SKI):c.342G>T (p.Val114=)
|
rs1057523880
|
|
NM_003036.4(SKI):c.347G>A (p.Gly116Glu)
|
rs387907303
|
|
NM_003036.4(SKI):c.349G>A (p.Gly117Ser)
|
rs869312901
|
|
NM_003036.4(SKI):c.349G>C (p.Gly117Arg)
|
rs869312901
|
|
NM_003036.4(SKI):c.350G>A (p.Gly117Asp)
|
rs2100790073
|
|
NM_003036.4(SKI):c.351C>T (p.Gly117=)
|
rs781703488
|
|
NM_003036.4(SKI):c.352G>A (p.Glu118Lys)
|
rs869025525
|
|
NM_003036.4(SKI):c.358C>T (p.Arg120Cys)
|
rs1569658411
|
|
NM_003036.4(SKI):c.35A>T (p.Gln12Leu)
|
|
|
NM_003036.4(SKI):c.360C>A (p.Arg120=)
|
|
|
NM_003036.4(SKI):c.36G>C (p.Gln12His)
|
|
|
NM_003036.4(SKI):c.381C>T (p.Leu127=)
|
rs371497152
|
|
NM_003036.4(SKI):c.383A>T (p.Asn128Ile)
|
|
|
NM_003036.4(SKI):c.399C>T (p.Asp133=)
|
rs937379586
|
|
NM_003036.4(SKI):c.405_406delinsTT (p.Ser135_Leu136=)
|
rs2100790167
|
|
NM_003036.4(SKI):c.414G>T (p.Gln138His)
|
|
|
NM_003036.4(SKI):c.417C>A (p.Ile139=)
|
rs144874401
|
|
NM_003036.4(SKI):c.419A>C (p.Asn140Thr)
|
rs2100790187
|
|
NM_003036.4(SKI):c.420C>T (p.Asn140=)
|
rs1013962872
|
|
NM_003036.4(SKI):c.423G>C (p.Ala141=)
|
|
|
NM_003036.4(SKI):c.433G>A (p.Glu145Lys)
|
|
|
NM_003036.4(SKI):c.442A>G (p.Ile148Val)
|
|
|
NM_003036.4(SKI):c.444C>T (p.Ile148=)
|
rs1391345174
|
|
NM_003036.4(SKI):c.452C>G (p.Ser151Trp)
|
|
|
NM_003036.4(SKI):c.453G>A (p.Ser151=)
|
|
|
NM_003036.4(SKI):c.459C>T (p.Cys153=)
|
rs1638575263
|
|
NM_003036.4(SKI):c.463G>T (p.Ala155Ser)
|
rs867726673
|
|
NM_003036.4(SKI):c.468C>T (p.Asp156=)
|
|
|
NM_003036.4(SKI):c.471G>C (p.Gln157His)
|
|
|
NM_003036.4(SKI):c.487G>A (p.Val163Ile)
|
rs878854599
|
|
NM_003036.4(SKI):c.489C>T (p.Val163=)
|
rs373291824
|
|
NM_003036.4(SKI):c.48G>A (p.Gly16=)
|
|
|
NM_003036.4(SKI):c.493G>A (p.Gly165Ser)
|
rs1569658999
|
|
NM_003036.4(SKI):c.516C>G (p.Pro172=)
|
rs182513685
|
|
NM_003036.4(SKI):c.51G>A (p.Leu17=)
|
rs763997001
|
|
NM_003036.4(SKI):c.522C>T (p.Cys174=)
|
|
|
NM_003036.4(SKI):c.525G>A (p.Gly175=)
|
|
|
NM_003036.4(SKI):c.525G>T (p.Gly175=)
|
|
|
NM_003036.4(SKI):c.528C>T (p.Leu176=)
|
|
|
NM_003036.4(SKI):c.531C>T (p.Ile177=)
|
rs1286351303
|
|
NM_003036.4(SKI):c.539C>T (p.Thr180Met)
|
rs863223722
|
|
NM_003036.4(SKI):c.540G>C (p.Thr180=)
|
|
|
NM_003036.4(SKI):c.547G>A (p.Glu183Lys)
|
rs1290478159
|
|
NM_003036.4(SKI):c.570C>T (p.Leu190=)
|
rs1253539827
|
|
NM_003036.4(SKI):c.572A>G (p.Tyr191Cys)
|
rs758199656
|
|
NM_003036.4(SKI):c.574G>A (p.Gly192Ser)
|
rs1638578159
|
|
NM_003036.4(SKI):c.57G>A (p.Lys19=)
|
|
|
NM_003036.4(SKI):c.581C>A (p.Ala194Asp)
|
rs746882046
|
|
NM_003036.4(SKI):c.584A>G (p.Tyr195Cys)
|
rs1474048036
|
|
NM_003036.4(SKI):c.584A>T (p.Tyr195Phe)
|
rs1474048036
|
|
NM_003036.4(SKI):c.585C>T (p.Tyr195=)
|
|
|
NM_003036.4(SKI):c.587C>T (p.Pro196Leu)
|
rs1638578545
|
|
NM_003036.4(SKI):c.599A>G (p.Lys200Arg)
|
|
|
NM_003036.4(SKI):c.59C>T (p.Thr20Met)
|
rs1060502671
|
|
NM_003036.4(SKI):c.602A>G (p.Lys201Arg)
|
rs2100790534
|
|
NM_003036.4(SKI):c.612C>T (p.Ala204=)
|
rs2100790564
|
|
NM_003036.4(SKI):c.613G>A (p.Ala205Thr)
|
rs2100790567
|
|
NM_003036.4(SKI):c.622G>C (p.Ala208Pro)
|
rs761138564
|
|
NM_003036.4(SKI):c.623C>T (p.Ala208Val)
|
rs1276237576
|
|
NM_003036.4(SKI):c.628G>T (p.Gly210Cys)
|
|
|
NM_003036.4(SKI):c.62T>G (p.Leu21Arg)
|
rs869312902
|
|
NM_003036.4(SKI):c.631C>T (p.Leu211=)
|
|
|
NM_003036.4(SKI):c.636G>A (p.Glu212=)
|
rs1461255065
|
|
NM_003036.4(SKI):c.637C>T (p.Leu213Phe)
|
|
|
NM_003036.4(SKI):c.638_895del (p.Leu213_Ala298del)
|
rs1553189986
|
|
NM_003036.4(SKI):c.647G>T (p.Arg216Leu)
|
|
|
NM_003036.4(SKI):c.654C>T (p.Val218=)
|
|
|
NM_003036.4(SKI):c.655C>T (p.Arg219Cys)
|
rs1226163559
|
|
NM_003036.4(SKI):c.657C>T (p.Arg219=)
|
|
|
NM_003036.4(SKI):c.672C>T (p.Cys224=)
|
|
|
NM_003036.4(SKI):c.687G>C (p.Lys229Asn)
|
rs750391739
|
|
NM_003036.4(SKI):c.68A>C (p.Gln23Pro)
|
rs1557806222
|
|
NM_003036.4(SKI):c.6GGC[4] (p.Ala5dup)
|
rs1638560188
|
|
NM_003036.4(SKI):c.714C>T (p.Ser238=)
|
rs1569660010
|
|
NM_003036.4(SKI):c.717C>T (p.Ser239=)
|
|
|
NM_003036.4(SKI):c.718C>G (p.Pro240Ala)
|
|
|
NM_003036.4(SKI):c.720G>A (p.Pro240=)
|
rs1569660069
|
|
NM_003036.4(SKI):c.723C>A (p.Ser241Arg)
|
|
|
NM_003036.4(SKI):c.723C>G (p.Ser241Arg)
|
rs2100790799
|
|
NM_003036.4(SKI):c.729C>T (p.Ala243=)
|
|
|
NM_003036.4(SKI):c.742C>T (p.Leu248=)
|
|
|
NM_003036.4(SKI):c.757A>T (p.Met253Leu)
|
rs767352419
|
|
NM_003036.4(SKI):c.759G>T (p.Met253Ile)
|
|
|
NM_003036.4(SKI):c.763C>T (p.Pro255Ser)
|
|
|
NM_003036.4(SKI):c.765G>C (p.Pro255=)
|
|
|
NM_003036.4(SKI):c.767C>T (p.Pro256Leu)
|
rs2100790888
|
|
NM_003036.4(SKI):c.768G>A (p.Pro256=)
|
rs1057521232
|
|
NM_003036.4(SKI):c.768G>T (p.Pro256=)
|
|
|
NM_003036.4(SKI):c.777C>T (p.Phe259=)
|
rs2100790901
|
|
NM_003036.4(SKI):c.780G>A (p.Val260=)
|
|
|
NM_003036.4(SKI):c.786C>T (p.His262=)
|
|
|
NM_003036.4(SKI):c.789G>T (p.Ser263=)
|
|
|
NM_003036.4(SKI):c.827T>A (p.Phe276Tyr)
|
rs1557807366
|
|
NM_003036.4(SKI):c.828C>T (p.Phe276=)
|
|
|
NM_003036.4(SKI):c.82T>A (p.Ser28Thr)
|
|
|
NM_003036.4(SKI):c.83C>T (p.Ser28Phe)
|
rs1569656949
|
|
NM_003036.4(SKI):c.840C>G (p.Asn280Lys)
|
|
|
NM_003036.4(SKI):c.840C>T (p.Asn280=)
|
rs1423154745
|
|
NM_003036.4(SKI):c.847G>A (p.Ala283Thr)
|
|
|
NM_003036.4(SKI):c.848C>T (p.Ala283Val)
|
|
|
NM_003036.4(SKI):c.84C>T (p.Ser28=)
|
|
|
NM_003036.4(SKI):c.853A>T (p.Ile285Phe)
|
rs2100791027
|
|
NM_003036.4(SKI):c.858G>A (p.Leu286=)
|
|
|
NM_003036.4(SKI):c.863G>T (p.Ser288Ile)
|
rs2100791046
|
|
NM_003036.4(SKI):c.867G>A (p.Gln289=)
|
|
|
NM_003036.4(SKI):c.872A>G (p.Tyr291Cys)
|
rs1638585706
|
|
NM_003036.4(SKI):c.879C>T (p.Gly293=)
|
rs543890429
|
|
NM_003036.4(SKI):c.896G>C (p.Arg299Pro)
|
rs1482824984
|
|
NM_003036.4(SKI):c.898C>T (p.Leu300Phe)
|
rs1569660908
|
|
NM_003036.4(SKI):c.89G>A (p.Ser30Asn)
|
|
|
NM_003036.4(SKI):c.8C>A (p.Ala3Glu)
|
|
|
NM_003036.4(SKI):c.8C>G (p.Ala3Gly)
|
rs1553189801
|
|
NM_003036.4(SKI):c.8C>T (p.Ala3Val)
|
rs1553189801
|
|
NM_003036.4(SKI):c.901G>C (p.Gly301Arg)
|
|
|
NM_003036.4(SKI):c.903C>T (p.Gly301=)
|
|
|
NM_003036.4(SKI):c.915C>T (p.Asp305=)
|
rs900879745
|
|
NM_003036.4(SKI):c.91T>C (p.Ser31Pro)
|
rs1569656981
|
|
NM_003036.4(SKI):c.921G>A (p.Val307=)
|
|
|
NM_003036.4(SKI):c.924G>A (p.Lys308=)
|
|
|
NM_003036.4(SKI):c.937T>A (p.Tyr313Asn)
|
|
|
NM_003036.4(SKI):c.937T>G (p.Tyr313Asp)
|
|
|
NM_003036.4(SKI):c.94C>G (p.Leu32Val)
|
rs387907304
|
|
NM_003036.4(SKI):c.951C>T (p.Tyr317=)
|
|
|
NM_003036.4(SKI):c.963G>T (p.Val321=)
|
|
|
NM_003036.4(SKI):c.968G>T (p.Arg323Leu)
|
rs1638589251
|
|
NM_003036.4(SKI):c.969+10C>T
|
|
|
NM_003036.4(SKI):c.969G>C (p.Arg323=)
|
rs747642639
|
|
NM_003036.4(SKI):c.970-13dup
|
|
|
NM_003036.4(SKI):c.970-19A>G
|
|
|
NM_003036.4(SKI):c.970-4G>A
|
|
|
NM_003036.4(SKI):c.972CTC[1] (p.Ser326del)
|
|
|
NM_003036.4(SKI):c.983C>T (p.Pro328Leu)
|
|
|
NM_003036.4(SKI):c.987G>C (p.Pro329=)
|
|
|
NM_003036.4(SKI):c.99C>T (p.Gly33=)
|
|
|
NM_003036.4(SKI):c.9G>C (p.Ala3=)
|
|
|
NM_003238.6(TGFB2):c.*1198A>G
|
rs556560548
|
|
NM_003238.6(TGFB2):c.*1233del
|
rs532376886
|
|
NM_003238.6(TGFB2):c.*1233dup
|
rs532376886
|
|
NM_003238.6(TGFB2):c.*1431A>C
|
rs1660199096
|
|
NM_003238.6(TGFB2):c.*2008G>A
|
rs12408711
|
|
NM_003238.6(TGFB2):c.*21G>T
|
rs778452299
|
|
NM_003238.6(TGFB2):c.*2359_*2361del
|
rs3054943
|
|
NM_003238.6(TGFB2):c.*2360_*2361del
|
rs3054943
|
|
NM_003238.6(TGFB2):c.*2361del
|
rs3054943
|
|
NM_003238.6(TGFB2):c.*2421G>T
|
rs1660233472
|
|
NM_003238.6(TGFB2):c.*2617T>C
|
rs886045992
|
|
NM_003238.6(TGFB2):c.*2980G>C
|
rs886045993
|
|
NM_003238.6(TGFB2):c.*3076G>A
|
rs1660255565
|
|
NM_003238.6(TGFB2):c.*3141A>G
|
rs886045994
|
|
NM_003238.6(TGFB2):c.*3210C>T
|
rs767736529
|
|
NM_003238.6(TGFB2):c.*323CAA[9]
|
rs11118106
|
|
NM_003238.6(TGFB2):c.*338C>T
|
rs1660159523
|
|
NM_003238.6(TGFB2):c.*772C>T
|
rs886045982
|
|
NM_003238.6(TGFB2):c.*799del
|
rs57430619
|
|
NM_003238.6(TGFB2):c.-101A>G
|
rs1656685944
|
|
NM_003238.6(TGFB2):c.-113_-110dup
|
rs10482719
|
|
NM_003238.6(TGFB2):c.-1237G>C
|
rs1656628678
|
|
NM_003238.6(TGFB2):c.-1271A>G
|
rs886045958
|
|
NM_003238.6(TGFB2):c.-1278AAGAGA[3]
|
rs886045957
|
|
NM_003238.6(TGFB2):c.-45del
|
rs200186989
|
|
NM_003238.6(TGFB2):c.-514T>C
|
rs1656669231
|
|
NM_003238.6(TGFB2):c.-542C>T
|
rs886045973
|
|
NM_003238.6(TGFB2):c.-644AC[11]
|
rs151329324
|
|
NM_003238.6(TGFB2):c.-644AC[13]
|
rs151329324
|
|
NM_003238.6(TGFB2):c.-644AC[14]
|
rs151329324
|
|
NM_003238.6(TGFB2):c.-644AC[15]
|
rs151329324
|
|
NM_003238.6(TGFB2):c.-645_-644insCCACGC
|
rs886045967
|
|
NM_003238.6(TGFB2):c.-646G>A
|
rs886045968
|
|
NM_003238.6(TGFB2):c.-652GCACAC[3]
|
rs765496001
|
|
NM_003238.6(TGFB2):c.-663C>T
|
rs886045965
|
|
NM_003238.6(TGFB2):c.-699A>C
|
rs886045961
|
|
NM_003238.6(TGFB2):c.-758G>C
|
rs954024485
|
|
NM_003238.6(TGFB2):c.1009G>A (p.Glu337Lys)
|
rs1476361240
|
|
NM_003238.6(TGFB2):c.100C>T (p.Arg34Cys)
|
rs1571820734
|
|
NM_003238.6(TGFB2):c.1013C>A (p.Pro338His)
|
rs387907278
|
|
NM_003238.6(TGFB2):c.101G>A (p.Arg34His)
|
rs1064796462
|
|
NM_003238.6(TGFB2):c.1021T>C (p.Tyr341His)
|
|
|
NM_003238.6(TGFB2):c.1022_1026del (p.Tyr341fs)
|
rs398122884
|
|
NM_003238.6(TGFB2):c.1027G>A (p.Ala343Thr)
|
rs779554274
|
|
NM_003238.6(TGFB2):c.1029C>T (p.Ala343=)
|
rs886045979
|
|
NM_003238.6(TGFB2):c.1032C>T (p.Asn344=)
|
|
|
NM_003238.6(TGFB2):c.1033T>C (p.Phe345Leu)
|
rs748732392
|
|
NM_003238.6(TGFB2):c.1041T>C (p.Ala347=)
|
|
|
NM_003238.6(TGFB2):c.1043G>A (p.Gly348Glu)
|
rs1660008608
|
|
NM_003238.6(TGFB2):c.1048T>C (p.Cys350Arg)
|
|
|
NM_003238.6(TGFB2):c.1049G>A (p.Cys350Tyr)
|
rs1558264109
|
|
NM_003238.6(TGFB2):c.1062G>A (p.Trp354Ter)
|
rs1558264130
|
|
NM_003238.6(TGFB2):c.1069_1072del (p.Asp357fs)
|
|
|
NM_003238.6(TGFB2):c.1070A>G (p.Asp357Gly)
|
|
|
NM_003238.6(TGFB2):c.1071C>T (p.Asp357=)
|
|
|
NM_003238.6(TGFB2):c.1080C>T (p.His360=)
|
rs2102630189
|
|
NM_003238.6(TGFB2):c.1086+10C>T
|
|
|
NM_003238.6(TGFB2):c.1086+13C>T
|
|
|
NM_003238.6(TGFB2):c.1086+15T>A
|
|
|
NM_003238.6(TGFB2):c.1086+1G>A
|
rs1571904338
|
|
NM_003238.6(TGFB2):c.1100A>G (p.Tyr367Cys)
|
|
|
NM_003238.6(TGFB2):c.1105A>G (p.Thr369Ala)
|
|
|
NM_003238.6(TGFB2):c.1107C>A (p.Thr369=)
|
rs2102634327
|
|
NM_003238.6(TGFB2):c.1118A>G (p.Glu373Gly)
|
|
|
NM_003238.6(TGFB2):c.111C>A (p.Ile37=)
|
rs1440677621
|
|
NM_003238.6(TGFB2):c.111C>G (p.Ile37Met)
|
|
|
NM_003238.6(TGFB2):c.111C>T (p.Ile37=)
|
|
|
NM_003238.6(TGFB2):c.112G>C (p.Glu38Gln)
|
|
|
NM_003238.6(TGFB2):c.1136G>T (p.Cys379Phe)
|
rs1660141597
|
|
NM_003238.6(TGFB2):c.1140C>A (p.Cys380Ter)
|
|
|
NM_003238.6(TGFB2):c.1150G>C (p.Asp384His)
|
|
|
NM_003238.6(TGFB2):c.1162C>T (p.Leu388=)
|
|
|
NM_003238.6(TGFB2):c.116C>T (p.Ala39Val)
|
rs2102527478
|
|
NM_003238.6(TGFB2):c.117G>C (p.Ala39=)
|
rs1430240541
|
|
NM_003238.6(TGFB2):c.1185C>T (p.Gly395=)
|
|
|
NM_003238.6(TGFB2):c.1186A>G (p.Lys396Glu)
|
|
|
NM_003238.6(TGFB2):c.1204C>T (p.Gln402Ter)
|
|
|
NM_003238.6(TGFB2):c.1221T>G (p.Ile407Met)
|
rs2102634488
|
|
NM_003238.6(TGFB2):c.1227G>A (p.Lys409=)
|
rs2102634493
|
|
NM_003238.6(TGFB2):c.1230T>C (p.Ser410=)
|
rs2102634500
|
|
NM_003238.6(TGFB2):c.1232G>C (p.Cys411Ser)
|
rs1553303761
|
|
NM_003238.6(TGFB2):c.1235A>C (p.Lys412Thr)
|
rs2102634517
|
|
NM_003238.6(TGFB2):c.1236dup (p.Cys413fs)
|
|
|
NM_003238.6(TGFB2):c.1237T>C (p.Cys413Arg)
|
|
|
NM_003238.6(TGFB2):c.1244A>T (p.Ter415Leu)
|
|
|
NM_003238.6(TGFB2):c.125G>A (p.Gly42Glu)
|
rs1558220033
|
|
NM_003238.6(TGFB2):c.127C>T (p.Gln43Ter)
|
|
|
NM_003238.6(TGFB2):c.133C>T (p.Leu45=)
|
rs1553292084
|
|
NM_003238.6(TGFB2):c.137G>A (p.Ser46Asn)
|
rs1318854254
|
|
NM_003238.6(TGFB2):c.13G>C (p.Val5Leu)
|
rs1571820552
|
|
NM_003238.6(TGFB2):c.142C>T (p.Leu48=)
|
rs2102527511
|
|
NM_003238.6(TGFB2):c.143T>G (p.Leu48Arg)
|
rs1553292088
|
|
NM_003238.6(TGFB2):c.145A>T (p.Lys49Ter)
|
rs2102527516
|
|
NM_003238.6(TGFB2):c.152C>T (p.Thr51Ile)
|
|
|
NM_003238.6(TGFB2):c.154A>G (p.Ser52Gly)
|
rs771351240
|
|
NM_003238.6(TGFB2):c.159C>T (p.Pro53=)
|
|
|
NM_003238.6(TGFB2):c.164A>G (p.Glu55Gly)
|
rs1656700353
|
|
NM_003238.6(TGFB2):c.171T>A (p.Tyr57Ter)
|
rs897070997
|
|
NM_003238.6(TGFB2):c.172C>T (p.Pro58Ser)
|
|
|
NM_003238.6(TGFB2):c.173C>T (p.Pro58Leu)
|
|
|
NM_003238.6(TGFB2):c.174T>G (p.Pro58=)
|
|
|
NM_003238.6(TGFB2):c.17T>C (p.Leu6Pro)
|
rs1553292060
|
|
NM_003238.6(TGFB2):c.183G>A (p.Glu61=)
|
|
|
NM_003238.6(TGFB2):c.186A>G (p.Glu62=)
|
|
|
NM_003238.6(TGFB2):c.186del (p.Val63fs)
|
|
|
NM_003238.6(TGFB2):c.189C>A (p.Val63=)
|
|
|
NM_003238.6(TGFB2):c.189C>T (p.Val63=)
|
rs774030175
|
|
NM_003238.6(TGFB2):c.193C>T (p.Pro65Ser)
|
rs747128130
|
|
NM_003238.6(TGFB2):c.194dup (p.Glu66fs)
|
rs2102527595
|
|
NM_003238.6(TGFB2):c.196del (p.Glu66fs)
|
rs1553292099
|
|
NM_003238.6(TGFB2):c.197_199dup (p.Glu66_Val67insGlu)
|
|
|
NM_003238.6(TGFB2):c.19A>G (p.Ser7Gly)
|
|
|
NM_003238.6(TGFB2):c.208A>G (p.Ile70Val)
|
rs1656702743
|
|
NM_003238.6(TGFB2):c.20G>C (p.Ser7Thr)
|
rs765477784
|
|
NM_003238.6(TGFB2):c.218G>C (p.Ser73Thr)
|
|
|
NM_003238.6(TGFB2):c.234C>T (p.Leu78=)
|
|
|
NM_003238.6(TGFB2):c.238_239delinsAAG (p.Glu80fs)
|
rs1571821003
|
|
NM_003238.6(TGFB2):c.243G>A (p.Lys81=)
|
rs2102527710
|
|
NM_003238.6(TGFB2):c.244G>A (p.Ala82Thr)
|
|
|
NM_003238.6(TGFB2):c.245C>T (p.Ala82Val)
|
rs1571821016
|
|
NM_003238.6(TGFB2):c.252G>C (p.Arg84=)
|
|
|
NM_003238.6(TGFB2):c.252dup (p.Arg85fs)
|
rs1553292112
|
|
NM_003238.6(TGFB2):c.255G>A (p.Arg85=)
|
|
|
NM_003238.6(TGFB2):c.265T>C (p.Cys89Arg)
|
|
|
NM_003238.6(TGFB2):c.268G>C (p.Glu90Gln)
|
rs749309877
|
|
NM_003238.6(TGFB2):c.274G>T (p.Glu92Ter)
|
rs1656706610
|
|
NM_003238.6(TGFB2):c.285C>A (p.Asp95Glu)
|
rs767393318
|
|
NM_003238.6(TGFB2):c.291G>A (p.Glu97=)
|
|
|
NM_003238.6(TGFB2):c.291_293dup (p.Tyr98Ter)
|
|
|
NM_003238.6(TGFB2):c.294_308del (p.Ala100_Tyr104del)
|
rs398122883
|
|
NM_003238.6(TGFB2):c.297C>A (p.Tyr99Ter)
|
rs760759052
|
|
NM_003238.6(TGFB2):c.297C>G (p.Tyr99Ter)
|
rs760759052
|
|
NM_003238.6(TGFB2):c.299C>A (p.Ala100Asp)
|
|
|
NM_003238.6(TGFB2):c.301A>T (p.Lys101Ter)
|
|
|
NM_003238.6(TGFB2):c.302AGG[1] (p.Glu102del)
|
rs1656708526
|
|
NM_003238.6(TGFB2):c.305A>T (p.Glu102Val)
|
rs967581444
|
|
NM_003238.6(TGFB2):c.306G>T (p.Glu102Asp)
|
|
|
NM_003238.6(TGFB2):c.30G>C (p.Leu10=)
|
rs1571820584
|
|
NM_003238.6(TGFB2):c.322A>T (p.Met108Leu)
|
rs1060501982
|
|
NM_003238.6(TGFB2):c.327G>C (p.Pro109=)
|
|
|
NM_003238.6(TGFB2):c.329_330dup (p.Phe111fs)
|
rs2102527910
|
|
NM_003238.6(TGFB2):c.334T>C (p.Phe112Leu)
|
rs1553292141
|
|
NM_003238.6(TGFB2):c.346+12T>C
|
|
|
NM_003238.6(TGFB2):c.346+12T>G
|
|
|
NM_003238.6(TGFB2):c.346+1G>A
|
rs1553292145
|
|
NM_003238.6(TGFB2):c.346+1G>T
|
rs1553292145
|
|
NM_003238.6(TGFB2):c.346+4_346+7del
|
rs1558220436
|
|
NM_003238.6(TGFB2):c.346+5G>A
|
rs886042712
|
|
NM_003238.6(TGFB2):c.346+8C>G
|
rs1553292149
|
|
NM_003238.6(TGFB2):c.347-10T>A
|
rs1419643875
|
|
NM_003238.6(TGFB2):c.370dup (p.Arg124fs)
|
rs869025533
|
|
NM_003238.6(TGFB2):c.377A>G (p.Tyr126Cys)
|
rs2102594799
|
|
NM_003238.6(TGFB2):c.38A>G (p.His13Arg)
|
|
|
NM_003238.6(TGFB2):c.391C>T (p.Arg131Ter)
|
rs869025531
|
|
NM_003238.6(TGFB2):c.392G>A (p.Arg131Gln)
|
rs758366080
|
|
NM_003238.6(TGFB2):c.395T>C (p.Phe132Ser)
|
rs1658868781
|
|
NM_003238.6(TGFB2):c.399C>T (p.Asp133=)
|
|
|
NM_003238.6(TGFB2):c.404C>G (p.Ser135Ter)
|
rs2102594816
|
|
NM_003238.6(TGFB2):c.410T>C (p.Met137Thr)
|
rs1264824521
|
|
NM_003238.6(TGFB2):c.417G>A (p.Lys139=)
|
|
|
NM_003238.6(TGFB2):c.441A>T (p.Ala147=)
|
rs1036004441
|
|
NM_003238.6(TGFB2):c.444G>T (p.Glu148Asp)
|
|
|
NM_003238.6(TGFB2):c.445T>G (p.Phe149Val)
|
rs896156575
|
|
NM_003238.6(TGFB2):c.447_448del (p.Phe149fs)
|
rs1658870968
|
|
NM_003238.6(TGFB2):c.449G>A (p.Arg150Lys)
|
rs1658871071
|
|
NM_003238.6(TGFB2):c.456dup (p.Arg153fs)
|
rs2102594880
|
|
NM_003238.6(TGFB2):c.457del (p.Arg153fs)
|
|
|
NM_003238.6(TGFB2):c.458G>A (p.Arg153His)
|
rs1057518684
|
|
NM_003238.6(TGFB2):c.459T>C (p.Arg153=)
|
|
|
NM_003238.6(TGFB2):c.463C>A (p.Gln155Lys)
|
|
|
NM_003238.6(TGFB2):c.486T>C (p.Pro162=)
|
|
|
NM_003238.6(TGFB2):c.490C>T (p.Gln164Ter)
|
rs1658873227
|
|
NM_003238.6(TGFB2):c.504A>G (p.Leu168=)
|
|
|
NM_003238.6(TGFB2):c.510+12TTG[11]
|
rs10482769
|
|
NM_003238.6(TGFB2):c.510+12TTG[12]
|
rs10482769
|
|
NM_003238.6(TGFB2):c.510+12TTG[13]
|
rs10482769
|
|
NM_003238.6(TGFB2):c.510+12TTG[14]
|
rs10482769
|
|
NM_003238.6(TGFB2):c.510+12TTG[15]
|
rs10482769
|
|
NM_003238.6(TGFB2):c.510+12TTG[16]
|
|
|
NM_003238.6(TGFB2):c.510+12TTG[6]
|
rs10482769
|
|
NM_003238.6(TGFB2):c.510+12TTG[7]
|
rs10482769
|
|
NM_003238.6(TGFB2):c.510+12TTG[8]
|
rs10482769
|
|
NM_003238.6(TGFB2):c.510+12TTG[9]
|
rs10482769
|
|
NM_003238.6(TGFB2):c.510+9C>T
|
rs1481374757
|
|
NM_003238.6(TGFB2):c.511-10del
|
rs376560786
|
|
NM_003238.6(TGFB2):c.511-18G>A
|
|
|
NM_003238.6(TGFB2):c.511-8C>T
|
rs770497232
|
|
NM_003238.6(TGFB2):c.511-9C>T
|
rs1309139149
|
|
NM_003238.6(TGFB2):c.513T>C (p.Ile171=)
|
rs1248612292
|
|
NM_003238.6(TGFB2):c.514C>T (p.Leu172Phe)
|
rs1291056000
|
|
NM_003238.6(TGFB2):c.52G>T (p.Ala18Ser)
|
rs886045975
|
|
NM_003238.6(TGFB2):c.541A>G (p.Thr181Ala)
|
|
|
NM_003238.6(TGFB2):c.542C>T (p.Thr181Ile)
|
|
|
NM_003238.6(TGFB2):c.543C>G (p.Thr181=)
|
rs1446432119
|
|
NM_003238.6(TGFB2):c.544C>T (p.Gln182Ter)
|
rs730880221
|
|
NM_003238.6(TGFB2):c.546G>A (p.Gln182=)
|
rs1553302931
|
|
NM_003238.6(TGFB2):c.54G>T (p.Ala18=)
|
rs781126315
|
|
NM_003238.6(TGFB2):c.553A>G (p.Ile185Val)
|
rs1558262183
|
|
NM_003238.6(TGFB2):c.559A>G (p.Ser187Gly)
|
rs759729701
|
|
NM_003238.6(TGFB2):c.560G>A (p.Ser187Asn)
|
|
|
NM_003238.6(TGFB2):c.576_577del (p.Arg193fs)
|
rs1064796256
|
|
NM_003238.6(TGFB2):c.57C>T (p.Leu19=)
|
rs1224916923
|
|
NM_003238.6(TGFB2):c.582A>G (p.Ala194=)
|
|
|
NM_003238.6(TGFB2):c.589G>T (p.Glu197Ter)
|
|
|
NM_003238.6(TGFB2):c.594G>T (p.Trp198Cys)
|
rs2102626457
|
|
NM_003238.6(TGFB2):c.598T>G (p.Ser200Ala)
|
|
|
NM_003238.6(TGFB2):c.59G>A (p.Ser20Asn)
|
rs1656695125
|
|
NM_003238.6(TGFB2):c.600C>T (p.Ser200=)
|
rs2102626461
|
|
NM_003238.6(TGFB2):c.611C>T (p.Thr204Ile)
|
rs1659896577
|
|
NM_003238.6(TGFB2):c.619G>A (p.Val207Ile)
|
rs10482810
|
|
NM_003238.6(TGFB2):c.622delinsGG (p.His208fs)
|
rs1659897581
|
|
NM_003238.6(TGFB2):c.635A>G (p.His212Arg)
|
|
|
NM_003238.6(TGFB2):c.638A>G (p.His213Arg)
|
|
|
NM_003238.6(TGFB2):c.638A>T (p.His213Leu)
|
|
|
NM_003238.6(TGFB2):c.643+11_643+12del
|
|
|
NM_003238.6(TGFB2):c.643+9C>A
|
|
|
NM_003238.6(TGFB2):c.643G>A (p.Asp215Asn)
|
rs1571901234
|
|
NM_003238.6(TGFB2):c.644-14_644-13del
|
|
|
NM_003238.6(TGFB2):c.644-17G>C
|
|
|
NM_003238.6(TGFB2):c.64_66del (p.Ser22del)
|
rs2102527414
|
|
NM_003238.6(TGFB2):c.651C>T (p.Asn217=)
|
rs749957893
|
|
NM_003238.6(TGFB2):c.655G>T (p.Gly219Ter)
|
|
|
NM_003238.6(TGFB2):c.663A>G (p.Lys221=)
|
|
|
NM_003238.6(TGFB2):c.663A>T (p.Lys221Asn)
|
rs863223791
|
|
NM_003238.6(TGFB2):c.668G>A (p.Ser223Asn)
|
|
|
NM_003238.6(TGFB2):c.668G>T (p.Ser223Ile)
|
rs957164399
|
|
NM_003238.6(TGFB2):c.670T>G (p.Leu224Val)
|
rs886045978
|
|
NM_003238.6(TGFB2):c.678T>A (p.Cys226Ter)
|
|
|
NM_003238.6(TGFB2):c.687C>A (p.Cys229Ter)
|
rs398122885
|
|
NM_003238.6(TGFB2):c.701C>G (p.Ser234Cys)
|
|
|
NM_003238.6(TGFB2):c.734A>T (p.Glu245Val)
|
rs1659906438
|
|
NM_003238.6(TGFB2):c.739G>A (p.Glu247Lys)
|
rs1558262454
|
|
NM_003238.6(TGFB2):c.743C>T (p.Ala248Val)
|
|
|
NM_003238.6(TGFB2):c.754+1G>A
|
|
|
NM_003238.6(TGFB2):c.754+7A>G
|
|
|
NM_003238.6(TGFB2):c.755-17A>C
|
|
|
NM_003238.6(TGFB2):c.755-18C>T
|
|
|
NM_003238.6(TGFB2):c.755-5_755-2delinsG
|
rs1553303161
|
|
NM_003238.6(TGFB2):c.755-5dup
|
|
|
NM_003238.6(TGFB2):c.755-6T>C
|
|
|
NM_003238.6(TGFB2):c.755G>T (p.Gly252Val)
|
|
|
NM_003238.6(TGFB2):c.759T>C (p.Ile253=)
|
|
|
NM_003238.6(TGFB2):c.759_760delinsAT (p.Asp254Tyr)
|
rs1553303162
|
|
NM_003238.6(TGFB2):c.765del (p.Thr256fs)
|
|
|
NM_003238.6(TGFB2):c.774A>C (p.Thr258=)
|
|
|
NM_003238.6(TGFB2):c.782G>A (p.Ser261Asn)
|
|
|
NM_003238.6(TGFB2):c.787G>T (p.Asp263Tyr)
|
|
|
NM_003238.6(TGFB2):c.792G>A (p.Gln264=)
|
rs2102628465
|
|
NM_003238.6(TGFB2):c.792G>T (p.Gln264His)
|
|
|
NM_003238.6(TGFB2):c.795A>G (p.Lys265=)
|
|
|
NM_003238.6(TGFB2):c.79C>A (p.Leu27Ile)
|
|
|
NM_003238.6(TGFB2):c.809C>G (p.Thr270Ser)
|
|
|
NM_003238.6(TGFB2):c.810T>G (p.Thr270=)
|
rs778961900
|
|
NM_003238.6(TGFB2):c.812G>A (p.Arg271Lys)
|
|
|
NM_003238.6(TGFB2):c.81C>A (p.Leu27=)
|
|
|
NM_003238.6(TGFB2):c.821A>C (p.Asn274Thr)
|
rs559315266
|
|
NM_003238.6(TGFB2):c.821del (p.Asn274fs)
|
rs863223796
|
|
NM_003238.6(TGFB2):c.821dup (p.Asn274fs)
|
rs863223796
|
|
NM_003238.6(TGFB2):c.828G>A (p.Gly276=)
|
rs1659959926
|
|
NM_003238.6(TGFB2):c.831G>T (p.Lys277Asn)
|
rs1304484008
|
|
NM_003238.6(TGFB2):c.833C>T (p.Thr278Ile)
|
|
|
NM_003238.6(TGFB2):c.835C>T (p.Pro279Ser)
|
rs1659961526
|
|
NM_003238.6(TGFB2):c.844C>A (p.Leu282Met)
|
|
|
NM_003238.6(TGFB2):c.845T>C (p.Leu282Pro)
|
rs1558263254
|
|
NM_003238.6(TGFB2):c.848T>C (p.Leu283Pro)
|
rs2102628571
|
|
NM_003238.6(TGFB2):c.852G>C (p.Met284Ile)
|
|
|
NM_003238.6(TGFB2):c.864C>G (p.Ser288=)
|
rs373646036
|
|
NM_003238.6(TGFB2):c.868dup (p.Arg290fs)
|
rs2102628609
|
|
NM_003238.6(TGFB2):c.874G>A (p.Glu292Lys)
|
|
|
NM_003238.6(TGFB2):c.876G>A (p.Glu292=)
|
rs2102628622
|
|
NM_003238.6(TGFB2):c.878C>T (p.Ser293Leu)
|
|
|
NM_003238.6(TGFB2):c.885G>A (p.Gln295=)
|
|
|
NM_003238.6(TGFB2):c.888C>T (p.Thr296=)
|
|
|
NM_003238.6(TGFB2):c.892_901del (p.Arg298fs)
|
rs1553303203
|
|
NM_003238.6(TGFB2):c.895C>A (p.Arg299=)
|
rs863223792
|
|
NM_003238.6(TGFB2):c.895C>T (p.Arg299Trp)
|
rs863223792
|
|
NM_003238.6(TGFB2):c.896G>A (p.Arg299Gln)
|
rs1057521150
|
|
NM_003238.6(TGFB2):c.89del (p.Asp30fs)
|
|
|
NM_003238.6(TGFB2):c.904C>A (p.Arg302Ser)
|
rs869312903
|
|
NM_003238.6(TGFB2):c.904C>T (p.Arg302Cys)
|
rs869312903
|
|
NM_003238.6(TGFB2):c.905G>A (p.Arg302His)
|
rs1553303213
|
|
NM_003238.6(TGFB2):c.906T>G (p.Arg302=)
|
|
|
NM_003238.6(TGFB2):c.912_930del (p.Asp305fs)
|
rs2102628675
|
|
NM_003238.6(TGFB2):c.915T>A (p.Asp305Glu)
|
rs1553303217
|
|
NM_003238.6(TGFB2):c.917C>A (p.Ala306Glu)
|
rs989462091
|
|
NM_003238.6(TGFB2):c.917C>T (p.Ala306Val)
|
|
|
NM_003238.6(TGFB2):c.918_923dup (p.Tyr308Ter)
|
rs1659965467
|
|
NM_003238.6(TGFB2):c.919G>C (p.Ala307Pro)
|
|
|
NM_003238.6(TGFB2):c.921C>T (p.Ala307=)
|
rs2102628692
|
|
NM_003238.6(TGFB2):c.921_932+4del
|
|
|
NM_003238.6(TGFB2):c.923A>G (p.Tyr308Cys)
|
rs750774144
|
|
NM_003238.6(TGFB2):c.924T>C (p.Tyr308=)
|
|
|
NM_003238.6(TGFB2):c.929T>A (p.Phe310Tyr)
|
rs1659965863
|
|
NM_003238.6(TGFB2):c.932+16G>A
|
rs2102628719
|
|
NM_003238.6(TGFB2):c.932+4A>G
|
rs2102628708
|
|
NM_003238.6(TGFB2):c.933-14_933-13insG
|
|
|
NM_003238.6(TGFB2):c.933-18T>C
|
|
|
NM_003238.6(TGFB2):c.933-1G>A
|
|
|
NM_003238.6(TGFB2):c.933-2A>C
|
|
|
NM_003238.6(TGFB2):c.933-6del
|
rs11285412
|
|
NM_003238.6(TGFB2):c.933-7_933-6del
|
rs11285412
|
|
NM_003238.6(TGFB2):c.933-9T>C
|
rs763680794
|
|
NM_003238.6(TGFB2):c.936T>C (p.Asn312=)
|
|
|
NM_003238.6(TGFB2):c.937G>C (p.Val313Leu)
|
|
|
NM_003238.6(TGFB2):c.949T>C (p.Cys317Arg)
|
rs1660004413
|
|
NM_003238.6(TGFB2):c.950G>C (p.Cys317Ser)
|
rs1553303351
|
|
NM_003238.6(TGFB2):c.958C>T (p.Arg320Cys)
|
rs1553303352
|
|
NM_003238.6(TGFB2):c.959G>A (p.Arg320His)
|
|
|
NM_003238.6(TGFB2):c.959del (p.Arg320fs)
|
|
|
NM_003238.6(TGFB2):c.963A>G (p.Pro321=)
|
|
|
NM_003238.6(TGFB2):c.971T>C (p.Ile324Thr)
|
rs2102630032
|
|
NM_003238.6(TGFB2):c.975T>C (p.Asp325=)
|
|
|
NM_003238.6(TGFB2):c.976T>C (p.Phe326Leu)
|
rs1660005627
|
|
NM_003238.6(TGFB2):c.978C>A (p.Phe326Leu)
|
|
|
NM_003238.6(TGFB2):c.978C>T (p.Phe326=)
|
rs1405556618
|
|
NM_003238.6(TGFB2):c.981G>T (p.Lys327Asn)
|
rs1085307561
|
|
NM_003238.6(TGFB2):c.982A>G (p.Arg328Gly)
|
rs2102630044
|
|
NM_003238.6(TGFB2):c.986dup (p.Asp329fs)
|
rs2102630058
|
|
NM_003238.6(TGFB2):c.990A>G (p.Leu330=)
|
|
|
NM_003238.6(TGFB2):c.990dup (p.Gly331fs)
|
rs1571904218
|
|
NM_003238.6(TGFB2):c.999A>T (p.Lys333Asn)
|
|
|
NM_003238.6(TGFB2):c.9del (p.Cys4fs)
|
|
|
NM_003239.5(TGFB3):c.-440CTT[2]
|
rs774422953
|
|
NM_003239.5(TGFB3):c.-536del
|
rs71451199
|
|
NM_003239.5(TGFB3):c.1001A>G (p.His334Arg)
|
rs1021920873
|
|
NM_003239.5(TGFB3):c.1006C>T (p.Pro336Ser)
|
|
|
NM_003239.5(TGFB3):c.1023C>T (p.Ala341=)
|
rs2035149393
|
|
NM_003239.5(TGFB3):c.1026C>T (p.Asn342=)
|
|
|
NM_003239.5(TGFB3):c.1034C>G (p.Ser345Ter)
|
rs1060502827
|
|
NM_003239.5(TGFB3):c.103A>G (p.Ile35Val)
|
|
|
NM_003239.5(TGFB3):c.1040C>T (p.Pro347Leu)
|
rs755084678
|
|
NM_003239.5(TGFB3):c.1055G>A (p.Arg352His)
|
rs755894337
|
|
NM_003239.5(TGFB3):c.1059T>C (p.Ser353=)
|
|
|
NM_003239.5(TGFB3):c.1063_1064del (p.Asp355fs)
|
rs2035148543
|
|
NM_003239.5(TGFB3):c.1064A>G (p.Asp355Gly)
|
rs2035148476
|
|
NM_003239.5(TGFB3):c.1065C>T (p.Asp355=)
|
|
|
NM_003239.5(TGFB3):c.1074C>T (p.His358=)
|
rs2140236128
|
|
NM_003239.5(TGFB3):c.107AGA[2] (p.Lys38del)
|
rs1257515732
|
|
NM_003239.5(TGFB3):c.1080+14T>A
|
|
|
NM_003239.5(TGFB3):c.1080G>A (p.Thr360=)
|
rs1555360212
|
|
NM_003239.5(TGFB3):c.1081-10C>A
|
|
|
NM_003239.5(TGFB3):c.1081-12G>A
|
|
|
NM_003239.5(TGFB3):c.1081-1G>A
|
|
|
NM_003239.5(TGFB3):c.1081-8C>G
|
rs773558367
|
|
NM_003239.5(TGFB3):c.1081-8C>T
|
rs773558367
|
|
NM_003239.5(TGFB3):c.1081G>T (p.Val361Leu)
|
|
|
NM_003239.5(TGFB3):c.1083G>T (p.Val361=)
|
rs1595336749
|
|
NM_003239.5(TGFB3):c.109A>T (p.Lys37Ter)
|
rs2035418540
|
|
NM_003239.5(TGFB3):c.1101T>G (p.Thr367=)
|
|
|
NM_003239.5(TGFB3):c.1102_1105del (p.Leu368fs)
|
rs1555360047
|
|
NM_003239.5(TGFB3):c.1124C>T (p.Ser375Leu)
|
rs780254258
|
|
NM_003239.5(TGFB3):c.1125G>A (p.Ser375=)
|
|
|
NM_003239.5(TGFB3):c.1127C>T (p.Pro376Leu)
|
rs1446755738
|
|
NM_003239.5(TGFB3):c.1128T>C (p.Pro376=)
|
|
|
NM_003239.5(TGFB3):c.1130G>A (p.Cys377Tyr)
|
rs1060502828
|
|
NM_003239.5(TGFB3):c.1138C>T (p.Pro380Ser)
|
rs1555360033
|
|
NM_003239.5(TGFB3):c.1149G>A (p.Leu383=)
|
rs1555360032
|
|
NM_003239.5(TGFB3):c.1151A>G (p.Glu384Gly)
|
rs777902992
|
|
NM_003239.5(TGFB3):c.1154C>T (p.Pro385Leu)
|
|
|
NM_003239.5(TGFB3):c.1173T>C (p.Tyr391=)
|
|
|
NM_003239.5(TGFB3):c.1175T>A (p.Val392Asp)
|
rs759168311
|
|
NM_003239.5(TGFB3):c.1177G>A (p.Gly393Arg)
|
|
|
NM_003239.5(TGFB3):c.1179G>A (p.Gly393=)
|
rs1555360030
|
|
NM_003239.5(TGFB3):c.1182G>A (p.Arg394=)
|
|
|
NM_003239.5(TGFB3):c.1183A>C (p.Thr395Pro)
|
rs1566677868
|
|
NM_003239.5(TGFB3):c.1183A>G (p.Thr395Ala)
|
rs1566677868
|
|
NM_003239.5(TGFB3):c.1184C>A (p.Thr395Asn)
|
|
|
NM_003239.5(TGFB3):c.1186C>T (p.Pro396Ser)
|
rs899613458
|
|
NM_003239.5(TGFB3):c.1190A>G (p.Lys397Arg)
|
rs2035122885
|
|
NM_003239.5(TGFB3):c.1194G>A (p.Val398=)
|
rs767894523
|
|
NM_003239.5(TGFB3):c.1195G>T (p.Glu399Ter)
|
rs1555360027
|
|
NM_003239.5(TGFB3):c.1202T>C (p.Leu401Pro)
|
|
|
NM_003239.5(TGFB3):c.1213GTG[1] (p.Val406del)
|
|
|
NM_003239.5(TGFB3):c.1219A>G (p.Lys407Glu)
|
rs1248127840
|
|
NM_003239.5(TGFB3):c.1219A>T (p.Lys407Ter)
|
rs1248127840
|
|
NM_003239.5(TGFB3):c.1221G>C (p.Lys407Asn)
|
|
|
NM_003239.5(TGFB3):c.1226G>A (p.Cys409Tyr)
|
rs398122984
|
|
NM_003239.5(TGFB3):c.1236C>G (p.Ser412Arg)
|
|
|
NM_003239.5(TGFB3):c.1236C>T (p.Ser412=)
|
rs1231643522
|
|
NM_003239.5(TGFB3):c.1237T>C (p.Ter413Arg)
|
|
|
NM_003239.5(TGFB3):c.128T>C (p.Ile43Thr)
|
rs765490133
|
|
NM_003239.5(TGFB3):c.133G>A (p.Gly45Arg)
|
|
|
NM_003239.5(TGFB3):c.135A>T (p.Gly45=)
|
rs759608485
|
|
NM_003239.5(TGFB3):c.139A>T (p.Ile47Phe)
|
rs2140254535
|
|
NM_003239.5(TGFB3):c.144G>A (p.Leu48=)
|
rs1479160942
|
|
NM_003239.5(TGFB3):c.146G>C (p.Ser49Thr)
|
rs2140254503
|
|
NM_003239.5(TGFB3):c.150G>A (p.Lys50=)
|
rs1330137432
|
|
NM_003239.5(TGFB3):c.153C>T (p.Leu51=)
|
rs760506739
|
|
NM_003239.5(TGFB3):c.154A>T (p.Arg52Trp)
|
rs1441479444
|
|
NM_003239.5(TGFB3):c.155G>A (p.Arg52Lys)
|
|
|
NM_003239.5(TGFB3):c.155G>C (p.Arg52Thr)
|
rs2035417379
|
|
NM_003239.5(TGFB3):c.161C>T (p.Thr54Ile)
|
rs2140254476
|
|
NM_003239.5(TGFB3):c.162C>T (p.Thr54=)
|
|
|
NM_003239.5(TGFB3):c.164G>C (p.Ser55Thr)
|
|
|
NM_003239.5(TGFB3):c.165C>T (p.Ser55=)
|
|
|
NM_003239.5(TGFB3):c.170_171del (p.Pro57fs)
|
|
|
NM_003239.5(TGFB3):c.170del (p.Pro57fs)
|
|
|
NM_003239.5(TGFB3):c.170dup (p.Pro57_Glu58insTer)
|
rs2140254449
|
|
NM_003239.5(TGFB3):c.171T>C (p.Pro57=)
|
rs768225719
|
|
NM_003239.5(TGFB3):c.171T>G (p.Pro57=)
|
|
|
NM_003239.5(TGFB3):c.176C>T (p.Pro59Leu)
|
rs1594792447
|
|
NM_003239.5(TGFB3):c.179C>G (p.Thr60Arg)
|
|
|
NM_003239.5(TGFB3):c.180G>A (p.Thr60=)
|
rs1594792436
|
|
NM_003239.5(TGFB3):c.185T>A (p.Met62Lys)
|
|
|
NM_003239.5(TGFB3):c.186G>A (p.Met62Ile)
|
rs2140254405
|
|
NM_003239.5(TGFB3):c.1A>G (p.Met1Val)
|
rs375153534
|
|
NM_003239.5(TGFB3):c.210G>C (p.Leu70=)
|
rs2140254337
|
|
NM_003239.5(TGFB3):c.219C>T (p.Tyr73=)
|
|
|
NM_003239.5(TGFB3):c.221A>G (p.Asn74Ser)
|
rs1279947435
|
|
NM_003239.5(TGFB3):c.229C>T (p.Arg77Trp)
|
rs150817760
|
|
NM_003239.5(TGFB3):c.230G>C (p.Arg77Pro)
|
rs1036545575
|
|
NM_003239.5(TGFB3):c.231G>A (p.Arg77=)
|
|
|
NM_003239.5(TGFB3):c.237G>A (p.Leu79=)
|
rs2140254299
|
|
NM_003239.5(TGFB3):c.237G>T (p.Leu79=)
|
|
|
NM_003239.5(TGFB3):c.258G>A (p.Glu86=)
|
rs761683627
|
|
NM_003239.5(TGFB3):c.260G>T (p.Arg87Met)
|
rs1379970824
|
|
NM_003239.5(TGFB3):c.268G>A (p.Gly90Ser)
|
|
|
NM_003239.5(TGFB3):c.291G>A (p.Glu97=)
|
rs1286432002
|
|
NM_003239.5(TGFB3):c.293C>G (p.Ser98Trp)
|
|
|
NM_003239.5(TGFB3):c.300C>T (p.Tyr100=)
|
|
|
NM_003239.5(TGFB3):c.301T>C (p.Tyr101His)
|
rs1380630603
|
|
NM_003239.5(TGFB3):c.321dup (p.Phe108fs)
|
rs1555361385
|
|
NM_003239.5(TGFB3):c.325G>A (p.Asp109Asn)
|
rs986180095
|
|
NM_003239.5(TGFB3):c.325G>T (p.Asp109Tyr)
|
|
|
NM_003239.5(TGFB3):c.335A>G (p.Gln112Arg)
|
rs2035412849
|
|
NM_003239.5(TGFB3):c.345G>A (p.Ala115=)
|
rs1060504730
|
|
NM_003239.5(TGFB3):c.352+10A>G
|
|
|
NM_003239.5(TGFB3):c.352+124C>G
|
|
|
NM_003239.5(TGFB3):c.352+13T>C
|
|
|
NM_003239.5(TGFB3):c.352+17G>A
|
|
|
NM_003239.5(TGFB3):c.352+2dup
|
rs1566686800
|
|
NM_003239.5(TGFB3):c.353-14G>T
|
rs886050797
|
|
NM_003239.5(TGFB3):c.353-14_353-10del
|
rs1422599707
|
|
NM_003239.5(TGFB3):c.353-19G>C
|
|
|
NM_003239.5(TGFB3):c.353-1G>C
|
rs1555360883
|
|
NM_003239.5(TGFB3):c.353-4C>G
|
|
|
NM_003239.5(TGFB3):c.353-5C>T
|
rs1355725139
|
|
NM_003239.5(TGFB3):c.355del (p.Glu119fs)
|
rs2140246004
|
|
NM_003239.5(TGFB3):c.361G>C (p.Ala121Pro)
|
|
|
NM_003239.5(TGFB3):c.364G>C (p.Val122Leu)
|
|
|
NM_003239.5(TGFB3):c.368G>T (p.Cys123Phe)
|
|
|
NM_003239.5(TGFB3):c.397C>T (p.Arg133Cys)
|
|
|
NM_003239.5(TGFB3):c.398G>A (p.Arg133His)
|
rs761890018
|
|
NM_003239.5(TGFB3):c.406G>A (p.Val136Met)
|
|
|
NM_003239.5(TGFB3):c.409_417del (p.Ser137_Val139del)
|
rs2035294881
|
|
NM_003239.5(TGFB3):c.40C>A (p.Leu14Met)
|
|
|
NM_003239.5(TGFB3):c.416T>C (p.Val139Ala)
|
rs1422804503
|
|
NM_003239.5(TGFB3):c.41T>C (p.Leu14Pro)
|
rs2140254745
|
|
NM_003239.5(TGFB3):c.427A>T (p.Arg143Ter)
|
|
|
NM_003239.5(TGFB3):c.428G>A (p.Arg143Lys)
|
rs532403511
|
|
NM_003239.5(TGFB3):c.428G>T (p.Arg143Ile)
|
rs532403511
|
|
NM_003239.5(TGFB3):c.431C>A (p.Thr144Asn)
|
rs1594788076
|
|
NM_003239.5(TGFB3):c.436del (p.Leu146fs)
|
rs2140245836
|
|
NM_003239.5(TGFB3):c.438A>G (p.Leu146=)
|
rs2140245833
|
|
NM_003239.5(TGFB3):c.43C>A (p.Leu15Met)
|
|
|
NM_003239.5(TGFB3):c.43C>T (p.Leu15=)
|
|
|
NM_003239.5(TGFB3):c.440T>C (p.Phe147Ser)
|
rs752691299
|
|
NM_003239.5(TGFB3):c.441C>T (p.Phe147=)
|
rs560468476
|
|
NM_003239.5(TGFB3):c.442C>T (p.Arg148Ter)
|
rs1057523647
|
|
NM_003239.5(TGFB3):c.458T>A (p.Val153Asp)
|
|
|
NM_003239.5(TGFB3):c.462G>T (p.Leu154Phe)
|
|
|
NM_003239.5(TGFB3):c.464G>A (p.Arg155Gln)
|
rs925224125
|
|
NM_003239.5(TGFB3):c.469C>G (p.Pro157Ala)
|
rs2035293604
|
|
NM_003239.5(TGFB3):c.471C>T (p.Pro157=)
|
rs768917005
|
|
NM_003239.5(TGFB3):c.472A>G (p.Asn158Asp)
|
|
|
NM_003239.5(TGFB3):c.488G>T (p.Arg163Leu)
|
rs920721092
|
|
NM_003239.5(TGFB3):c.496C>T (p.Gln166Ter)
|
|
|
NM_003239.5(TGFB3):c.496_497del (p.Gln166fs)
|
|
|
NM_003239.5(TGFB3):c.498G>A (p.Gln166=)
|
rs886050796
|
|
NM_003239.5(TGFB3):c.504C>G (p.Ile168Met)
|
rs148029842
|
|
NM_003239.5(TGFB3):c.505G>A (p.Glu169Lys)
|
rs1555360808
|
|
NM_003239.5(TGFB3):c.50T>G (p.Phe17Cys)
|
|
|
NM_003239.5(TGFB3):c.516+18G>C
|
rs1594787972
|
|
NM_003239.5(TGFB3):c.516+1G>T
|
|
|
NM_003239.5(TGFB3):c.516+4A>T
|
rs1252391096
|
|
NM_003239.5(TGFB3):c.516+5C>T
|
rs2035292365
|
|
NM_003239.5(TGFB3):c.516+8C>A
|
rs2035292281
|
|
NM_003239.5(TGFB3):c.516+9T>C
|
rs2140245664
|
|
NM_003239.5(TGFB3):c.517-10T>C
|
rs375794497
|
|
NM_003239.5(TGFB3):c.517-13C>T
|
|
|
NM_003239.5(TGFB3):c.517-18C>G
|
|
|
NM_003239.5(TGFB3):c.517-1G>C
|
rs1566682530
|
|
NM_003239.5(TGFB3):c.517-2A>G
|
rs2035287906
|
|
NM_003239.5(TGFB3):c.517-3T>C
|
rs2035287934
|
|
NM_003239.5(TGFB3):c.523C>T (p.Arg175Trp)
|
|
|
NM_003239.5(TGFB3):c.525G>C (p.Arg175=)
|
|
|
NM_003239.5(TGFB3):c.538A>C (p.Ile180Leu)
|
rs2035287327
|
|
NM_003239.5(TGFB3):c.547C>T (p.Gln183Ter)
|
|
|
NM_003239.5(TGFB3):c.551G>A (p.Arg184His)
|
rs996991722
|
|
NM_003239.5(TGFB3):c.557T>G (p.Ile186Ser)
|
rs763289805
|
|
NM_003239.5(TGFB3):c.57G>A (p.Thr19=)
|
|
|
NM_003239.5(TGFB3):c.57G>C (p.Thr19=)
|
rs1325304886
|
|
NM_003239.5(TGFB3):c.590C>T (p.Ala197Val)
|
|
|
NM_003239.5(TGFB3):c.592G>A (p.Glu198Lys)
|
|
|
NM_003239.5(TGFB3):c.605T>C (p.Phe202Ser)
|
rs2035285904
|
|
NM_003239.5(TGFB3):c.611T>C (p.Val204Ala)
|
rs1555360774
|
|
NM_003239.5(TGFB3):c.621del (p.Val208fs)
|
rs2140245186
|
|
NM_003239.5(TGFB3):c.622G>A (p.Val208Met)
|
rs2035285476
|
|
NM_003239.5(TGFB3):c.623T>C (p.Val208Ala)
|
|
|
NM_003239.5(TGFB3):c.625C>T (p.Arg209Cys)
|
rs1331488615
|
|
NM_003239.5(TGFB3):c.638del (p.Leu212_Leu213insTer)
|
|
|
NM_003239.5(TGFB3):c.641G>A (p.Arg214Lys)
|
|
|
NM_003239.5(TGFB3):c.644G>C (p.Arg215Thr)
|
|
|
NM_003239.5(TGFB3):c.646+16A>T
|
|
|
NM_003239.5(TGFB3):c.646+17G>T
|
|
|
NM_003239.5(TGFB3):c.646+18A>C
|
|
|
NM_003239.5(TGFB3):c.646+1G>T
|
|
|
NM_003239.5(TGFB3):c.646+9A>G
|
rs903703321
|
|
NM_003239.5(TGFB3):c.646G>A (p.Glu216Lys)
|
rs2140245156
|
|
NM_003239.5(TGFB3):c.647-17T>C
|
rs937023243
|
|
NM_003239.5(TGFB3):c.647A>G (p.Glu216Gly)
|
|
|
NM_003239.5(TGFB3):c.653A>T (p.Asn218Ile)
|
rs2140240288
|
|
NM_003239.5(TGFB3):c.656T>C (p.Leu219Ser)
|
|
|
NM_003239.5(TGFB3):c.66C>T (p.Leu22=)
|
|
|
NM_003239.5(TGFB3):c.680G>A (p.Cys227Tyr)
|
rs1280447804
|
|
NM_003239.5(TGFB3):c.684A>G (p.Pro228=)
|
rs745821422
|
|
NM_003239.5(TGFB3):c.704del (p.Asn235fs)
|
rs875989817
|
|
NM_003239.5(TGFB3):c.705T>G (p.Asn235Lys)
|
|
|
NM_003239.5(TGFB3):c.706G>A (p.Gly236Arg)
|
rs2035212440
|
|
NM_003239.5(TGFB3):c.708A>G (p.Gly236=)
|
rs2035212392
|
|
NM_003239.5(TGFB3):c.711T>C (p.Asp237=)
|
rs1206735679
|
|
NM_003239.5(TGFB3):c.713T>C (p.Ile238Thr)
|
rs2140240237
|
|
NM_003239.5(TGFB3):c.714C>T (p.Ile238=)
|
|
|
NM_003239.5(TGFB3):c.716T>C (p.Leu239Pro)
|
|
|
NM_003239.5(TGFB3):c.722del (p.Asn241fs)
|
|
|
NM_003239.5(TGFB3):c.723del (p.Asn241fs)
|
rs2140240223
|
|
NM_003239.5(TGFB3):c.727C>A (p.His243Asn)
|
rs1045402283
|
|
NM_003239.5(TGFB3):c.735G>T (p.Val245=)
|
|
|
NM_003239.5(TGFB3):c.742A>G (p.Ile248Val)
|
rs2035211931
|
|
NM_003239.5(TGFB3):c.742A>T (p.Ile248Phe)
|
|
|
NM_003239.5(TGFB3):c.750C>T (p.Phe250=)
|
rs2140240196
|
|
NM_003239.5(TGFB3):c.754+11G>T
|
|
|
NM_003239.5(TGFB3):c.754+1G>A
|
|
|
NM_003239.5(TGFB3):c.754+2T>C
|
rs875989816
|
|
NM_003239.5(TGFB3):c.754+5C>T
|
rs754211381
|
|
NM_003239.5(TGFB3):c.754+6_754+10del
|
rs1414628117
|
|
NM_003239.5(TGFB3):c.755-10C>T
|
|
|
NM_003239.5(TGFB3):c.755-14C>T
|
|
|
NM_003239.5(TGFB3):c.755-16del
|
|
|
NM_003239.5(TGFB3):c.755-18T>C
|
|
|
NM_003239.5(TGFB3):c.755-1G>A
|
|
|
NM_003239.5(TGFB3):c.755-6C>G
|
rs1283455840
|
|
NM_003239.5(TGFB3):c.756C>A (p.Gly252=)
|
|
|
NM_003239.5(TGFB3):c.756C>T (p.Gly252=)
|
rs369435862
|
|
NM_003239.5(TGFB3):c.764A>G (p.Asn255Ser)
|
|
|
NM_003239.5(TGFB3):c.777T>C (p.His259=)
|
rs1595339249
|
|
NM_003239.5(TGFB3):c.779G>A (p.Gly260Asp)
|
rs2140238325
|
|
NM_003239.5(TGFB3):c.781C>T (p.Arg261Cys)
|
rs560321456
|
|
NM_003239.5(TGFB3):c.782G>A (p.Arg261His)
|
rs547264290
|
|
NM_003239.5(TGFB3):c.787G>C (p.Asp263His)
|
rs796051886
|
|
NM_003239.5(TGFB3):c.795G>A (p.Gly265=)
|
rs1213571239
|
|
NM_003239.5(TGFB3):c.797G>T (p.Arg266Leu)
|
rs142069844
|
|
NM_003239.5(TGFB3):c.810G>A (p.Gln270=)
|
rs1595339194
|
|
NM_003239.5(TGFB3):c.830A>G (p.His277Arg)
|
rs1382239332
|
|
NM_003239.5(TGFB3):c.830_832del (p.His277del)
|
rs1555360376
|
|
NM_003239.5(TGFB3):c.832C>T (p.Leu278=)
|
rs2035182890
|
|
NM_003239.5(TGFB3):c.835A>C (p.Ile279Leu)
|
|
|
NM_003239.5(TGFB3):c.837C>T (p.Ile279=)
|
|
|
NM_003239.5(TGFB3):c.838C>T (p.Leu280Phe)
|
|
|
NM_003239.5(TGFB3):c.83C>T (p.Thr28Ile)
|
rs2035419470
|
|
NM_003239.5(TGFB3):c.842T>C (p.Met281Thr)
|
rs1325349711
|
|
NM_003239.5(TGFB3):c.864C>T (p.Leu288=)
|
|
|
NM_003239.5(TGFB3):c.865G>A (p.Asp289Asn)
|
|
|
NM_003239.5(TGFB3):c.866A>G (p.Asp289Gly)
|
|
|
NM_003239.5(TGFB3):c.878del (p.Gln293fs)
|
|
|
NM_003239.5(TGFB3):c.883_884del (p.Gly295fs)
|
rs1060502826
|
|
NM_003239.5(TGFB3):c.884del (p.Gly295fs)
|
|
|
NM_003239.5(TGFB3):c.886_893dup (p.Lys298fs)
|
rs1555360368
|
|
NM_003239.5(TGFB3):c.891G>T (p.Arg297Ser)
|
rs773168068
|
|
NM_003239.5(TGFB3):c.892A>C (p.Lys298Gln)
|
rs2035181062
|
|
NM_003239.5(TGFB3):c.898C>T (p.Arg300Trp)
|
rs796051885
|
|
NM_003239.5(TGFB3):c.899G>A (p.Arg300Gln)
|
rs587777617
|
|
NM_003239.5(TGFB3):c.901G>A (p.Ala301Thr)
|
rs2035180741
|
|
NM_003239.5(TGFB3):c.907G>C (p.Asp303His)
|
rs2035180646
|
|
NM_003239.5(TGFB3):c.912dup (p.Asn305fs)
|
|
|
NM_003239.5(TGFB3):c.914A>C (p.Asn305Thr)
|
rs369281541
|
|
NM_003239.5(TGFB3):c.916del (p.Tyr306fs)
|
rs1555360362
|
|
NM_003239.5(TGFB3):c.919T>C (p.Cys307Arg)
|
rs2035180317
|
|
NM_003239.5(TGFB3):c.921C>T (p.Cys307=)
|
rs575379914
|
|
NM_003239.5(TGFB3):c.926+11G>A
|
rs2035179873
|
|
NM_003239.5(TGFB3):c.926+11del
|
rs2140238030
|
|
NM_003239.5(TGFB3):c.926+12C>T
|
|
|
NM_003239.5(TGFB3):c.926+19G>C
|
|
|
NM_003239.5(TGFB3):c.926+19_926+30del
|
|
|
NM_003239.5(TGFB3):c.926+1G>A
|
rs2035180096
|
|
NM_003239.5(TGFB3):c.926+1G>T
|
rs2035180096
|
|
NM_003239.5(TGFB3):c.926+9G>A
|
rs771442662
|
|
NM_003239.5(TGFB3):c.926G>A (p.Arg309His)
|
rs1057524768
|
|
NM_003239.5(TGFB3):c.927-10T>G
|
rs2140236310
|
|
NM_003239.5(TGFB3):c.927-13dup
|
rs1303198865
|
|
NM_003239.5(TGFB3):c.927-14G>A
|
|
|
NM_003239.5(TGFB3):c.927-15T>C
|
|
|
NM_003239.5(TGFB3):c.927-1G>C
|
rs767548724
|
|
NM_003239.5(TGFB3):c.927-6T>A
|
rs1555360247
|
|
NM_003239.5(TGFB3):c.927-6T>C
|
|
|
NM_003239.5(TGFB3):c.927-7G>A
|
rs2140236302
|
|
NM_003239.5(TGFB3):c.929A>C (p.Asn310Thr)
|
rs1194831540
|
|
NM_003239.5(TGFB3):c.934G>A (p.Glu312Lys)
|
|
|
NM_003239.5(TGFB3):c.934GAG[1] (p.Glu313del)
|
rs760903557
|
|
NM_003239.5(TGFB3):c.946T>C (p.Cys316Arg)
|
rs2035150933
|
|
NM_003239.5(TGFB3):c.951G>A (p.Val317=)
|
|
|
NM_003239.5(TGFB3):c.952C>T (p.Arg318Cys)
|
rs2140236263
|
|
NM_003239.5(TGFB3):c.953G>A (p.Arg318His)
|
|
|
NM_003239.5(TGFB3):c.954C>T (p.Arg318=)
|
rs1595337745
|
|
NM_003239.5(TGFB3):c.956C>T (p.Pro319Leu)
|
rs1595337739
|
|
NM_003239.5(TGFB3):c.95_96insA (p.Phe32fs)
|
|
|
NM_003239.5(TGFB3):c.973C>A (p.Arg325=)
|
|
|
NM_003239.5(TGFB3):c.973C>T (p.Arg325Ter)
|
rs1555360229
|
|
NM_003239.5(TGFB3):c.974G>A (p.Arg325Gln)
|
rs771391164
|
|
NM_003239.5(TGFB3):c.985G>C (p.Gly329Arg)
|
|
|
NM_003239.5(TGFB3):c.985G>T (p.Gly329Cys)
|
rs2035150012
|
|
NM_003239.5(TGFB3):c.986G>C (p.Gly329Ala)
|
rs772698647
|
|
NM_003239.5(TGFB3):c.989G>A (p.Trp330Ter)
|
rs1555360222
|
|
NM_003239.5(TGFB3):c.990G>A (p.Trp330Ter)
|
rs2140236217
|
|
NM_003239.5(TGFB3):c.996G>A (p.Trp332Ter)
|
rs2140236210
|
|
NM_003239.5(TGFB3):c.997G>A (p.Val333Ile)
|
|
|
NM_003242.5(TGFBR2):c.-344C>A
|
rs886058298
|
|
NM_003242.6(TGFBR2):c.*1207A>G
|
rs1699738762
|
|
NM_003242.6(TGFBR2):c.*1211A>T
|
rs886058319
|
|
NM_003242.6(TGFBR2):c.*1326G>A
|
rs886058320
|
|
NM_003242.6(TGFBR2):c.*1327C>G
|
rs1699740473
|
|
NM_003242.6(TGFBR2):c.*1715A>G
|
rs559265897
|
|
NM_003242.6(TGFBR2):c.*1842G>T
|
rs886058321
|
|
NM_003242.6(TGFBR2):c.*1859G>T
|
rs886058322
|
|
NM_003242.6(TGFBR2):c.*1860C>A
|
rs886058323
|
|
NM_003242.6(TGFBR2):c.*1887G>T
|
rs886058324
|
|
NM_003242.6(TGFBR2):c.*1966A>G
|
rs1699748594
|
|
NM_003242.6(TGFBR2):c.*2065C>T
|
rs11466536
|
|
NM_003242.6(TGFBR2):c.*2248dup
|
rs34914516
|
|
NM_003242.6(TGFBR2):c.*226C>A
|
rs886058307
|
|
NM_003242.6(TGFBR2):c.*2332A>C
|
rs886058326
|
|
NM_003242.6(TGFBR2):c.*2335T>A
|
rs886058327
|
|
NM_003242.6(TGFBR2):c.*2437T>A
|
rs886058330
|
|
NM_003242.6(TGFBR2):c.*312AT[11]
|
rs4016180
|
|
NM_003242.6(TGFBR2):c.*330_*331del
|
rs561991238
|
|
NM_003242.6(TGFBR2):c.*33A>G
|
rs886058306
|
|
NM_003242.6(TGFBR2):c.*598G>T
|
rs886058311
|
|
NM_003242.6(TGFBR2):c.*704A>G
|
rs886058312
|
|
NM_003242.6(TGFBR2):c.*713G>T
|
rs886058313
|
|
NM_003242.6(TGFBR2):c.*793G>T
|
rs886058314
|
|
NM_003242.6(TGFBR2):c.*799A>G
|
rs886058315
|
|
NM_003242.6(TGFBR2):c.*859G>A
|
rs548242538
|
|
NM_003242.6(TGFBR2):c.*997T>A
|
rs886058317
|
|
NM_003242.6(TGFBR2):c.-122T>G
|
rs1040386724
|
|
NM_003242.6(TGFBR2):c.-18C>A
|
rs753369354
|
|
NM_003242.6(TGFBR2):c.-195G>A
|
rs925186023
|
|
NM_003242.6(TGFBR2):c.-228C>A
|
rs886058300
|
|
NM_003242.6(TGFBR2):c.-249T>G
|
rs886058299
|
|
NM_003242.6(TGFBR2):c.-26G>A
|
rs752752584
|
|
NM_003242.6(TGFBR2):c.1002G>T (p.Gln334His)
|
rs1699354101
|
|
NM_003242.6(TGFBR2):c.1006T>A (p.Tyr336Asn)
|
rs104893812
|
|
NM_003242.6(TGFBR2):c.1016G>C (p.Arg339Pro)
|
rs727503473
|
|
NM_003242.6(TGFBR2):c.1049T>A (p.Leu350Gln)
|
|
|
NM_003242.6(TGFBR2):c.1052G>A (p.Gly351Asp)
|
rs869025537
|
|
NM_003242.6(TGFBR2):c.1063G>C (p.Ala355Pro)
|
rs104893813
|
|
NM_003242.6(TGFBR2):c.1067G>C (p.Arg356Pro)
|
rs727504292
|
|
NM_003242.6(TGFBR2):c.1069G>T (p.Gly357Trp)
|
rs104893814
|
|
NM_003242.6(TGFBR2):c.1085A>G (p.His362Arg)
|
rs863223842
|
|
NM_003242.6(TGFBR2):c.1087A>G (p.Ser363Gly)
|
rs2125436087
|
|
NM_003242.6(TGFBR2):c.1102T>C (p.Cys368Arg)
|
rs2125436184
|
|
NM_003242.6(TGFBR2):c.1126G>A (p.Val376Met)
|
rs755967723
|
|
NM_003242.6(TGFBR2):c.1134G>C (p.Arg378Ser)
|
rs1575158079
|
|
NM_003242.6(TGFBR2):c.1151A>G (p.Asn384Ser)
|
rs193922660
|
|
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met)
|
rs35766612
|
|
NM_003242.6(TGFBR2):c.1159G>T (p.Val387Leu)
|
rs35766612
|
|
NM_003242.6(TGFBR2):c.1177T>C (p.Cys393Arg)
|
rs2125436754
|
|
NM_003242.6(TGFBR2):c.1177T>G (p.Cys393Gly)
|
rs2125436754
|
|
NM_003242.6(TGFBR2):c.1238T>A (p.Leu413Gln)
|
rs1559467328
|
|
NM_003242.6(TGFBR2):c.1254+8A>G
|
rs200630803
|
|
NM_003242.6(TGFBR2):c.1273A>G (p.Met425Val)
|
rs104893817
|
|
NM_003242.6(TGFBR2):c.1277C>T (p.Ala426Val)
|
rs730880224
|
|
NM_003242.6(TGFBR2):c.1280C>T (p.Pro427Leu)
|
rs104893818
|
|
NM_003242.6(TGFBR2):c.1301T>A (p.Met434Lys)
|
rs1575158954
|
|
NM_003242.6(TGFBR2):c.1330C>T (p.Gln444Ter)
|
|
|
NM_003242.6(TGFBR2):c.1331A>C (p.Gln444Pro)
|
rs2125439099
|
|
NM_003242.6(TGFBR2):c.1336G>A (p.Asp446Asn)
|
rs886039551
|
|
NM_003242.6(TGFBR2):c.1346C>T (p.Ser449Phe)
|
rs104893807
|
|
NM_003242.6(TGFBR2):c.1378C>A (p.Arg460Ser)
|
rs104893811
|
|
NM_003242.6(TGFBR2):c.1378C>T (p.Arg460Cys)
|
rs104893811
|
|
NM_003242.6(TGFBR2):c.1379G>A (p.Arg460His)
|
rs104893816
|
|
NM_003242.6(TGFBR2):c.1379G>C (p.Arg460Pro)
|
rs104893816
|
|
NM_003242.6(TGFBR2):c.1381T>C (p.Cys461Arg)
|
rs1553630457
|
|
NM_003242.6(TGFBR2):c.1382G>A (p.Cys461Tyr)
|
rs587782979
|
|
NM_003242.6(TGFBR2):c.1386T>G (p.Asn462Lys)
|
rs2125439408
|
|
NM_003242.6(TGFBR2):c.1397-2A>G
|
rs587776770
|
|
NM_003242.6(TGFBR2):c.1408T>G (p.Tyr470Asp)
|
rs863224935
|
|
NM_003242.6(TGFBR2):c.1436G>A (p.Arg479Gln)
|
rs1553631704
|
|
NM_003242.6(TGFBR2):c.1483C>T (p.Arg495Ter)
|
rs104893819
|
|
NM_003242.6(TGFBR2):c.1489C>T (p.Arg497Ter)
|
rs863223852
|
|
NM_003242.6(TGFBR2):c.1490G>A (p.Arg497Gln)
|
rs200958264
|
|
NM_003242.6(TGFBR2):c.1495G>T (p.Glu499Ter)
|
rs397516840
|
|
NM_003242.6(TGFBR2):c.1512G>A (p.Trp504Ter)
|
rs1575165272
|
|
NM_003242.6(TGFBR2):c.1524+1G>A
|
rs727503475
|
|
NM_003242.6(TGFBR2):c.1524G>A (p.Gln508=)
|
rs121918715
|
|
NM_003242.6(TGFBR2):c.1540T>C (p.Cys514Arg)
|
rs193922664
|
|
NM_003242.6(TGFBR2):c.1546_1557del (p.Thr516_Glu519del)
|
rs876658120
|
|
NM_003242.6(TGFBR2):c.1562G>A (p.Trp521Ter)
|
|
|
NM_003242.6(TGFBR2):c.1570G>A (p.Asp524Asn)
|
rs727504421
|
|
NM_003242.6(TGFBR2):c.1580C>T (p.Ala527Val)
|
rs727503476
|
|
NM_003242.6(TGFBR2):c.1582C>A (p.Arg528Ser)
|
rs104893810
|
|
NM_003242.6(TGFBR2):c.1582C>T (p.Arg528Cys)
|
rs104893810
|
|
NM_003242.6(TGFBR2):c.1583G>A (p.Arg528His)
|
rs104893815
|
|
NM_003242.6(TGFBR2):c.1591G>A (p.Ala531Thr)
|
rs727503477
|
|
NM_003242.6(TGFBR2):c.1609C>T (p.Arg537Cys)
|
rs104893809
|
|
NM_003242.6(TGFBR2):c.1682G>C (p.Gly561Ala)
|
rs1559473531
|
|
NM_003242.6(TGFBR2):c.1A>G (p.Met1Val)
|
rs933114782
|
|
NM_003242.6(TGFBR2):c.215G>A (p.Ser72Asn)
|
rs764941621
|
|
NM_003242.6(TGFBR2):c.310C>T (p.Pro104Ser)
|
rs193922665
|
|
NM_003242.6(TGFBR2):c.383del (p.Lys128fs)
|
rs79375991
|
|
NM_003242.6(TGFBR2):c.383dup (p.Pro129fs)
|
rs79375991
|
|
NM_003242.6(TGFBR2):c.413G>A (p.Cys138Tyr)
|
rs1559458957
|
|
NM_003242.6(TGFBR2):c.472C>T (p.Pro158Ser)
|
rs886058303
|
|
NM_003242.6(TGFBR2):c.568C>G (p.Arg190Gly)
|
rs758703490
|
|
NM_003242.6(TGFBR2):c.736C>T (p.Leu246=)
|
rs886058305
|
|
NM_003242.6(TGFBR2):c.760C>T (p.Arg254Cys)
|
rs863223856
|
|
NM_003242.6(TGFBR2):c.773T>A (p.Val258Asp)
|
rs869025536
|
|
NM_003242.6(TGFBR2):c.797A>G (p.Asn266Ser)
|
rs753184709
|
|
NM_003242.6(TGFBR2):c.7C>T (p.Arg3Trp)
|
|
|
NM_003242.6(TGFBR2):c.831G>T (p.Lys277Asn)
|
rs886038794
|
|
NM_003242.6(TGFBR2):c.835T>C (p.Phe279Leu)
|
rs746824357
|
|
NM_003242.6(TGFBR2):c.859T>C (p.Trp287Arg)
|
rs727503472
|
|
NM_003242.6(TGFBR2):c.860G>C (p.Trp287Ser)
|
rs2125434732
|
|
NM_003242.6(TGFBR2):c.902A>G (p.His301Arg)
|
rs863223857
|
|
NM_003242.6(TGFBR2):c.913C>T (p.Leu305Phe)
|
rs1553630171
|
|
NM_003242.6(TGFBR2):c.923T>C (p.Leu308Pro)
|
rs28934568
|
|
NM_003242.6(TGFBR2):c.928G>A (p.Ala310Thr)
|
rs1553630181
|
|
NM_003242.6(TGFBR2):c.967C>G (p.Leu323Val)
|
rs781018006
|
|
NM_004612.4(TGFBR1):c.*1080A>C
|
rs1461290743
|
|
NM_004612.4(TGFBR1):c.*1159T>G
|
rs1827950323
|
|
NM_004612.4(TGFBR1):c.*1223A>G
|
rs886063229
|
|
NM_004612.4(TGFBR1):c.*1250G>T
|
rs886063230
|
|
NM_004612.4(TGFBR1):c.*1269T>G
|
rs189032587
|
|
NM_004612.4(TGFBR1):c.*1368C>A
|
rs886063231
|
|
NM_004612.4(TGFBR1):c.*1431G>T
|
rs886063232
|
|
NM_004612.4(TGFBR1):c.*1687A>G
|
rs886063233
|
|
NM_004612.4(TGFBR1):c.*1704G>T
|
rs886063234
|
|
NM_004612.4(TGFBR1):c.*1787T>C
|
rs886063235
|
|
NM_004612.4(TGFBR1):c.*1792C>A
|
rs1827968273
|
|
NM_004612.4(TGFBR1):c.*1924G>T
|
rs886063236
|
|
NM_004612.4(TGFBR1):c.*2086T>G
|
rs148063684
|
|
NM_004612.4(TGFBR1):c.*2101T>G
|
rs1827975718
|
|
NM_004612.4(TGFBR1):c.*2101_*2102insGT
|
rs886063239
|
|
NM_004612.4(TGFBR1):c.*2104_*2105insGT
|
rs1554703244
|
|
NM_004612.4(TGFBR1):c.*2105dup
|
rs200529894
|
|
NM_004612.4(TGFBR1):c.*2106G>T
|
rs201054018
|
|
NM_004612.4(TGFBR1):c.*2106GTT[2]
|
rs886063241
|
|
NM_004612.4(TGFBR1):c.*2279T>C
|
rs886063242
|
|
NM_004612.4(TGFBR1):c.*2411G>C
|
rs11568813
|
|
NM_004612.4(TGFBR1):c.*247T>C
|
rs1827918720
|
|
NM_004612.4(TGFBR1):c.*250T>A
|
rs1827918871
|
|
NM_004612.4(TGFBR1):c.*2547A>G
|
rs886063243
|
|
NM_004612.4(TGFBR1):c.*2554A>T
|
rs1827986039
|
|
NM_004612.4(TGFBR1):c.*2634TCT[1]
|
rs886063244
|
|
NM_004612.4(TGFBR1):c.*2713G>T
|
rs886063245
|
|
NM_004612.4(TGFBR1):c.*2768T>A
|
rs886063246
|
|
NM_004612.4(TGFBR1):c.*2980G>T
|
rs886063248
|
|
NM_004612.4(TGFBR1):c.*3095A>G
|
rs1828003249
|
|
NM_004612.4(TGFBR1):c.*309C>T
|
rs886063226
|
|
NM_004612.4(TGFBR1):c.*3317C>G
|
rs201113438
|
|
NM_004612.4(TGFBR1):c.*339G>T
|
rs199861787
|
|
NM_004612.4(TGFBR1):c.*3430del
|
rs78078491
|
|
NM_004612.4(TGFBR1):c.*3432G>T
|
rs886063251
|
|
NM_004612.4(TGFBR1):c.*3567G>A
|
rs886063252
|
|
NM_004612.4(TGFBR1):c.*3716T>C
|
rs886063253
|
|
NM_004612.4(TGFBR1):c.*3839A>C
|
rs906560184
|
|
NM_004612.4(TGFBR1):c.*3881G>T
|
rs886063254
|
|
NM_004612.4(TGFBR1):c.*4055G>T
|
rs886063255
|
|
NM_004612.4(TGFBR1):c.*4088G>T
|
rs886063256
|
|
NM_004612.4(TGFBR1):c.*408C>T
|
rs941101059
|
|
NM_004612.4(TGFBR1):c.*4278C>T
|
rs200414044
|
|
NM_004612.4(TGFBR1):c.*4445C>G
|
rs202020004
|
|
NM_004612.4(TGFBR1):c.*4467C>A
|
rs886063257
|
|
NM_004612.4(TGFBR1):c.*456G>T
|
rs200245567
|
|
NM_004612.4(TGFBR1):c.*469T>C
|
rs1827927207
|
|
NM_004612.4(TGFBR1):c.*4804dup
|
rs561572489
|
|
NM_004612.4(TGFBR1):c.*502T>G
|
rs201269197
|
|
NM_004612.4(TGFBR1):c.*512_*516del
|
rs777186940
|
|
NM_004612.4(TGFBR1):c.*709C>T
|
rs886063228
|
|
NM_004612.4(TGFBR1):c.*756C>A
|
rs200926268
|
|
NM_004612.4(TGFBR1):c.-43C>A
|
rs886063219
|
|
NM_004612.4(TGFBR1):c.-56G>A
|
rs1826365648
|
|
NM_004612.4(TGFBR1):c.1058G>T (p.Gly353Val)
|
rs1554701911
|
|
NM_004612.4(TGFBR1):c.1060C>A (p.Leu354Met)
|
|
|
NM_004612.4(TGFBR1):c.1061T>C (p.Leu354Pro)
|
rs1554701914
|
|
NM_004612.4(TGFBR1):c.1065A>G (p.Ala355=)
|
rs758280185
|
|
NM_004612.4(TGFBR1):c.1198G>A (p.Asp400Asn)
|
rs2118827924
|
|
NM_004612.4(TGFBR1):c.1199A>G (p.Asp400Gly)
|
rs121918711
|
|
NM_004612.4(TGFBR1):c.1421G>A (p.Cys474Tyr)
|
rs1827899415
|
|
NM_004612.4(TGFBR1):c.1442C>T (p.Ala481Val)
|
|
|
NM_004612.4(TGFBR1):c.1443T>A (p.Ala481=)
|
rs886063225
|
|
NM_004612.4(TGFBR1):c.1444A>G (p.Arg482Gly)
|
rs730880223
|
|
NM_004612.4(TGFBR1):c.1446G>C (p.Arg482Ser)
|
|
|
NM_004612.4(TGFBR1):c.1446G>T (p.Arg482Ser)
|
rs1588598651
|
|
NM_004612.4(TGFBR1):c.1459C>T (p.Arg487Trp)
|
rs111426349
|
|
NM_004612.4(TGFBR1):c.1460G>C (p.Arg487Pro)
|
rs113605875
|
|
NM_004612.4(TGFBR1):c.1468A>G (p.Lys490Glu)
|
|
|
NM_004612.4(TGFBR1):c.1488T>A (p.Ser496Arg)
|
|
|
NM_004612.4(TGFBR1):c.191A>G (p.Lys64Arg)
|
rs886042300
|
|
NM_004612.4(TGFBR1):c.296A>G (p.Tyr99Cys)
|
rs1360080681
|
|
NM_004612.4(TGFBR1):c.344-74del
|
rs193922675
|
|
NM_004612.4(TGFBR1):c.363_364insTCA (p.Leu121_Gly122insSer)
|
rs2118625345
|
|
NM_004612.4(TGFBR1):c.41T>C (p.Leu14Pro)
|
rs1826371375
|
|
NM_004612.4(TGFBR1):c.487del (p.Asp163fs)
|
rs1827276619
|
|
NM_004612.4(TGFBR1):c.490C>T (p.Pro164Ser)
|
rs886063222
|
|
NM_004612.4(TGFBR1):c.529T>C (p.Leu177=)
|
rs1827279899
|
|
NM_004612.4(TGFBR1):c.52GCG[13] (p.Ala23_Ala26dup)
|
rs11466445
|
|
NM_004612.4(TGFBR1):c.52GCG[3] (p.Ala21_Ala26del)
|
rs11466445
|
|
NM_004612.4(TGFBR1):c.52GCG[6] (p.Ala24_Ala26del)
|
rs11466445
|
|
NM_004612.4(TGFBR1):c.569G>T (p.Gly190Val)
|
rs2118632040
|
|
NM_004612.4(TGFBR1):c.575-9dup
|
rs863223798
|
|
NM_004612.4(TGFBR1):c.582A>G (p.Pro194=)
|
rs200679996
|
|
NM_004612.4(TGFBR1):c.586C>T (p.Leu196Phe)
|
rs863223807
|
|
NM_004612.4(TGFBR1):c.599C>T (p.Thr200Ile)
|
rs121918712
|
|
NM_004612.4(TGFBR1):c.605C>T (p.Ala202Val)
|
rs1564161322
|
|
NM_004612.4(TGFBR1):c.640G>A (p.Gly214Ser)
|
rs727503470
|
|
NM_004612.4(TGFBR1):c.640G>C (p.Gly214Arg)
|
rs727503470
|
|
NM_004612.4(TGFBR1):c.673C>T (p.Arg225Trp)
|
rs1564161544
|
|
NM_004612.4(TGFBR1):c.680AAG[1] (p.Glu228del)
|
rs863223829
|
|
NM_004612.4(TGFBR1):c.722C>T (p.Ser241Leu)
|
rs111854391
|
|
NM_004612.4(TGFBR1):c.734A>C (p.Glu245Ala)
|
rs1554700650
|
|
NM_004612.4(TGFBR1):c.735G>C (p.Glu245Asp)
|
rs1588585506
|
|
NM_004612.4(TGFBR1):c.757A>G (p.Met253Val)
|
rs886038919
|
|
NM_004612.4(TGFBR1):c.763C>T (p.Arg255Cys)
|
rs1588585570
|
|
NM_004612.4(TGFBR1):c.797A>G (p.Asp266Gly)
|
rs863223819
|
|
NM_004612.4(TGFBR1):c.827T>C (p.Leu276Pro)
|
rs1827646767
|
|
NM_004612.4(TGFBR1):c.828C>G (p.Leu276=)
|
rs886063224
|
|
NM_004612.4(TGFBR1):c.829T>A (p.Trp277Arg)
|
rs1827647083
|
|
NM_004612.4(TGFBR1):c.847_849del (p.His283del)
|
rs1588590301
|
|
NM_004612.4(TGFBR1):c.848A>G (p.His283Arg)
|
rs1064796037
|
|
NM_004612.4(TGFBR1):c.886A>G (p.Thr296Ala)
|
|
|
NM_004612.4(TGFBR1):c.8C>T (p.Ala3Val)
|
rs1564120661
|
|
NM_004612.4(TGFBR1):c.953T>G (p.Met318Arg)
|
rs121918710
|
|
NM_004612.4(TGFBR1):c.957G>T (p.Glu319Asp)
|
rs2118780957
|
|
NM_004612.4(TGFBR1):c.97+15GGCG[4]
|
rs886063221
|
|
NM_004612.4(TGFBR1):c.98-1G>A
|
|
|
NM_004612.4(TGFBR1):c.994A>G (p.Arg332Gly)
|
rs2118804018
|
|
NM_005585.5(SMAD6):c.42G>A (p.Trp14Ter)
|
rs1246889300
|
|
NM_005901.6(SMAD2):c.1059T>G (p.Ser353Arg)
|
|
|
NM_005901.6(SMAD2):c.1082A>C (p.Asn361Thr)
|
rs2144290354
|
|
NM_005901.6(SMAD2):c.1163A>G (p.Gln388Arg)
|
rs746828424
|
|
NM_005901.6(SMAD2):c.1346T>C (p.Leu449Ser)
|
rs2144276501
|
|
NM_005901.6(SMAD2):c.1369G>A (p.Gly457Arg)
|
rs2144276285
|
|
NM_005901.6(SMAD2):c.1384C>T (p.Arg462Cys)
|
rs2144276135
|
|
NM_005901.6(SMAD2):c.507_508del (p.Arg169fs)
|
|
|
NM_005901.6(SMAD2):c.612dup (p.Asn205Ter)
|
rs2144373131
|
|
NM_005901.6(SMAD2):c.748_754del (p.Ser250fs)
|
|
|
NM_005901.6(SMAD2):c.833C>T (p.Ala278Val)
|
rs2144300734
|
|
NM_005901.6(SMAD2):c.908C>G (p.Thr303Arg)
|
rs2144300077
|
|
NM_005901.6(SMAD2):c.998G>A (p.Gly333Glu)
|
|
|
NM_005902.4(SMAD3):c.*1326A>G
|
rs886051392
|
|
NM_005902.4(SMAD3):c.*1355C>G
|
rs886051393
|
|
NM_005902.4(SMAD3):c.*1443C>A
|
rs886051394
|
|
NM_005902.4(SMAD3):c.*1493C>A
|
rs886051395
|
|
NM_005902.4(SMAD3):c.*1515C>A
|
rs886051396
|
|
NM_005902.4(SMAD3):c.*1548G>T
|
rs886051397
|
|
NM_005902.4(SMAD3):c.*1597G>C
|
rs886051398
|
|
NM_005902.4(SMAD3):c.*1614C>A
|
rs886051399
|
|
NM_005902.4(SMAD3):c.*1641T>G
|
rs886051400
|
|
NM_005902.4(SMAD3):c.*1644T>G
|
rs886051401
|
|
NM_005902.4(SMAD3):c.*1695G>T
|
rs886051402
|
|
NM_005902.4(SMAD3):c.*1749G>T
|
rs886051403
|
|
NM_005902.4(SMAD3):c.*1767G>C
|
rs533635017
|
|
NM_005902.4(SMAD3):c.*1784G>T
|
rs886051404
|
|
NM_005902.4(SMAD3):c.*1790G>A
|
rs530788405
|
|
NM_005902.4(SMAD3):c.*1800_*1803del
|
rs141408841
|
|
NM_005902.4(SMAD3):c.*1820G>T
|
rs886051407
|
|
NM_005902.4(SMAD3):c.*1831G>T
|
rs886051408
|
|
NM_005902.4(SMAD3):c.*1853C>A
|
rs886051409
|
|
NM_005902.4(SMAD3):c.*1915G>A
|
rs961459942
|
|
NM_005902.4(SMAD3):c.*195G>T
|
rs886051381
|
|
NM_005902.4(SMAD3):c.*2026T>C
|
rs886051410
|
|
NM_005902.4(SMAD3):c.*2038G>T
|
rs886051411
|
|
NM_005902.4(SMAD3):c.*2245C>A
|
rs886051412
|
|
NM_005902.4(SMAD3):c.*2251C>A
|
rs886051413
|
|
NM_005902.4(SMAD3):c.*2291C>A
|
rs886051414
|
|
NM_005902.4(SMAD3):c.*2303G>C
|
rs886051415
|
|
NM_005902.4(SMAD3):c.*2453C>A
|
rs886051416
|
|
NM_005902.4(SMAD3):c.*2476A>C
|
rs886051417
|
|
NM_005902.4(SMAD3):c.*2573G>T
|
rs886051418
|
|
NM_005902.4(SMAD3):c.*2580C>A
|
rs886051419
|
|
NM_005902.4(SMAD3):c.*2596G>T
|
rs886051420
|
|
NM_005902.4(SMAD3):c.*2891C>A
|
rs886051421
|
|
NM_005902.4(SMAD3):c.*292G>T
|
rs886051382
|
|
NM_005902.4(SMAD3):c.*2963A>C
|
rs886051422
|
|
NM_005902.4(SMAD3):c.*304C>T
|
rs565932125
|
|
NM_005902.4(SMAD3):c.*30C>T
|
rs201206131
|
|
NM_005902.4(SMAD3):c.*3120G>T
|
rs886051423
|
|
NM_005902.4(SMAD3):c.*3129C>T
|
rs886051424
|
|
NM_005902.4(SMAD3):c.*3147G>T
|
rs886051425
|
|
NM_005902.4(SMAD3):c.*3148T>C
|
rs886051426
|
|
NM_005902.4(SMAD3):c.*3174del
|
rs886051427
|
|
NM_005902.4(SMAD3):c.*3174dup
|
rs886051427
|
|
NM_005902.4(SMAD3):c.*3512A>G
|
rs886051429
|
|
NM_005902.4(SMAD3):c.*3661G>A
|
rs886051430
|
|
NM_005902.4(SMAD3):c.*3719C>T
|
rs886051431
|
|
NM_005902.4(SMAD3):c.*3738C>T
|
rs886051432
|
|
NM_005902.4(SMAD3):c.*4195G>A
|
rs886051433
|
|
NM_005902.4(SMAD3):c.*4445C>T
|
rs886051434
|
|
NM_005902.4(SMAD3):c.*4556C>A
|
rs886051435
|
|
NM_005902.4(SMAD3):c.*4556C>T
|
rs886051435
|
|
NM_005902.4(SMAD3):c.*495C>A
|
rs886051383
|
|
NM_005902.4(SMAD3):c.*552G>T
|
rs769408016
|
|
NM_005902.4(SMAD3):c.*573G>T
|
rs886051384
|
|
NM_005902.4(SMAD3):c.*594C>T
|
rs1963353753
|
|
NM_005902.4(SMAD3):c.*609A>G
|
rs564556206
|
|
NM_005902.4(SMAD3):c.*632C>A
|
rs886051386
|
|
NM_005902.4(SMAD3):c.*656C>A
|
rs886051387
|
|
NM_005902.4(SMAD3):c.*678C>A
|
rs886051388
|
|
NM_005902.4(SMAD3):c.*937T>C
|
rs1272484755
|
|
NM_005902.4(SMAD3):c.*981C>A
|
rs886051390
|
|
NM_005902.4(SMAD3):c.-100C>T
|
rs886051379
|
|
NM_005902.4(SMAD3):c.-115C>T
|
rs556470157
|
|
NM_005902.4(SMAD3):c.-139C>G
|
rs1595881947
|
|
NM_005902.4(SMAD3):c.-164A>C
|
rs886051378
|
|
NM_005902.4(SMAD3):c.-168C>A
|
rs886051377
|
|
NM_005902.4(SMAD3):c.-217C>T
|
rs886051376
|
|
NM_005902.4(SMAD3):c.-240G>T
|
rs886051375
|
|
NM_005902.4(SMAD3):c.-280C>A
|
rs886051372
|
|
NM_005902.4(SMAD3):c.-38C>T
|
rs909267391
|
|
NM_005902.4(SMAD3):c.100G>A (p.Ala34Thr)
|
rs2140188906
|
|
NM_005902.4(SMAD3):c.1050C>T (p.Ala350=)
|
|
|
NM_005902.4(SMAD3):c.1081G>T (p.Glu361Ter)
|
rs387906856
|
|
NM_005902.4(SMAD3):c.1094A>T (p.Gln365Leu)
|
rs1595962708
|
|
NM_005902.4(SMAD3):c.1117C>T (p.Arg373Cys)
|
rs863223746
|
|
NM_005902.4(SMAD3):c.1118G>A (p.Arg373His)
|
rs1060500766
|
|
NM_005902.4(SMAD3):c.1153A>G (p.Arg385Gly)
|
rs886038836
|
|
NM_005902.4(SMAD3):c.1157G>C (p.Arg386Thr)
|
rs1567005489
|
|
NM_005902.4(SMAD3):c.1180T>C (p.Cys394Arg)
|
|
|
NM_005902.4(SMAD3):c.1211T>C (p.Leu404Ser)
|
rs1555414491
|
|
NM_005902.4(SMAD3):c.1243G>C (p.Gly415Arg)
|
rs886038961
|
|
NM_005902.4(SMAD3):c.1268G>A (p.Ser423Asn)
|
rs1555414503
|
|
NM_005902.4(SMAD3):c.12C>T (p.Ile4=)
|
rs1595882053
|
|
NM_005902.4(SMAD3):c.169A>C (p.Thr57Pro)
|
rs730880213
|
|
NM_005902.4(SMAD3):c.170C>G (p.Thr57Arg)
|
|
|
NM_005902.4(SMAD3):c.1A>T (p.Met1Leu)
|
rs1555405092
|
|
NM_005902.4(SMAD3):c.206+1G>C
|
rs770098673
|
|
NM_005902.4(SMAD3):c.207-26806G>T
|
|
|
NM_005902.4(SMAD3):c.228G>T (p.Gln76His)
|
rs886041046
|
|
NM_005902.4(SMAD3):c.238C>T (p.Arg80Trp)
|
rs750707381
|
|
NM_005902.4(SMAD3):c.266GCC[3] (p.Arg90dup)
|
rs1595941653
|
|
NM_005902.4(SMAD3):c.269G>A (p.Arg90His)
|
rs886038803
|
|
NM_005902.4(SMAD3):c.278G>A (p.Arg93Gln)
|
rs863223765
|
|
NM_005902.4(SMAD3):c.281G>T (p.Trp94Leu)
|
rs1057518977
|
|
NM_005902.4(SMAD3):c.284C>T (p.Pro95Leu)
|
rs1962536528
|
|
NM_005902.4(SMAD3):c.295A>G (p.Ser99Gly)
|
|
|
NM_005902.4(SMAD3):c.304G>A (p.Glu102Lys)
|
rs1962537574
|
|
NM_005902.4(SMAD3):c.304G>T (p.Glu102Ter)
|
rs1962537574
|
|
NM_005902.4(SMAD3):c.30G>T (p.Pro10=)
|
|
|
NM_005902.4(SMAD3):c.313del (p.Ala105fs)
|
rs587776882
|
|
NM_005902.4(SMAD3):c.317T>C (p.Met106Thr)
|
rs1301737199
|
|
NM_005902.4(SMAD3):c.334_335delinsCT (p.Ala112Leu)
|
rs1595941823
|
|
NM_005902.4(SMAD3):c.335C>A (p.Ala112Asp)
|
|
|
NM_005902.4(SMAD3):c.335C>T (p.Ala112Val)
|
rs387906854
|
|
NM_005902.4(SMAD3):c.364G>A (p.Val122Met)
|
rs587782977
|
|
NM_005902.4(SMAD3):c.398C>G (p.Pro133Arg)
|
rs2140294309
|
|
NM_005902.4(SMAD3):c.3G>A (p.Met1Ile)
|
rs2140188685
|
|
NM_005902.4(SMAD3):c.401-6G>A
|
rs745672741
|
|
NM_005902.4(SMAD3):c.435_436del (p.Glu145fs)
|
|
|
NM_005902.4(SMAD3):c.445_455del (p.Glu149fs)
|
rs2140294805
|
|
NM_005902.4(SMAD3):c.448T>C (p.Phe150Leu)
|
rs751860407
|
|
NM_005902.4(SMAD3):c.532+1G>C
|
rs2140295070
|
|
NM_005902.4(SMAD3):c.590A>C (p.Asn197Thr)
|
|
|
NM_005902.4(SMAD3):c.653del (p.Asn218fs)
|
rs587776881
|
|
NM_005902.4(SMAD3):c.668del (p.Pro223fs)
|
rs1595956416
|
|
NM_005902.4(SMAD3):c.677A>C (p.Tyr226Ser)
|
|
|
NM_005902.4(SMAD3):c.67C>T (p.Gln23Ter)
|
|
|
NM_005902.4(SMAD3):c.701C>T (p.Ser234Phe)
|
rs2140313919
|
|
NM_005902.4(SMAD3):c.715G>A (p.Glu239Lys)
|
rs387906853
|
|
NM_005902.4(SMAD3):c.727C>T (p.Arg243Cys)
|
rs886039137
|
|
NM_005902.4(SMAD3):c.736del (p.Glu246fs)
|
rs1595956538
|
|
NM_005902.4(SMAD3):c.741_742del (p.Phe248fs)
|
rs587776880
|
|
NM_005902.4(SMAD3):c.782C>T (p.Thr261Ile)
|
rs387906851
|
|
NM_005902.4(SMAD3):c.787C>T (p.Pro263Ser)
|
rs863223739
|
|
NM_005902.4(SMAD3):c.788C>T (p.Pro263Leu)
|
rs387906855
|
|
NM_005902.4(SMAD3):c.789del (p.Ser264fs)
|
rs1963050712
|
|
NM_005902.4(SMAD3):c.807C>A (p.Phe269Leu)
|
|
|
NM_005902.4(SMAD3):c.808_812delinsAGA (p.Cys270fs)
|
rs2140314299
|
|
NM_005902.4(SMAD3):c.836G>A (p.Arg279Lys)
|
rs387906852
|
|
NM_005902.4(SMAD3):c.859C>T (p.Arg287Trp)
|
rs387906850
|
|
NM_005902.4(SMAD3):c.860G>A (p.Arg287Gln)
|
rs730880214
|
|
NM_005902.4(SMAD3):c.871G>A (p.Gly291Arg)
|
rs730880215
|
|
NM_005902.4(SMAD3):c.874del (p.Arg292fs)
|
rs1595960347
|
|
NM_005902.4(SMAD3):c.908T>A (p.Val303Asp)
|
rs1555414011
|
|
NM_005902.4(SMAD3):c.916G>T (p.Glu306Ter)
|
|
|
NM_005902.4(SMAD3):c.922C>T (p.Leu308Phe)
|
rs764656928
|
|
NM_005902.4(SMAD3):c.934G>A (p.Ala312Thr)
|
rs750756638
|
|
NM_005902.4(SMAD3):c.967C>T (p.Arg323Cys)
|
rs967072552
|
|
NM_005902.4(SMAD3):c.991G>T (p.Val331Phe)
|
rs1320208623
|
|
Single allele
|
|
|
t(9;15)(p13.3;q21.1)
|
|
|