NM_001999.4(FBN2):c.7200T>C (p.Ser2400=)
|
rs190450
|
0.69111
|
NM_001999.4(FBN2):c.5675-9C>T
|
rs27713
|
0.68788
|
NM_001999.4(FBN2):c.2893G>A (p.Val965Ile)
|
rs154001
|
0.68054
|
NM_000138.5(FBN1):c.6997+17C>G
|
rs363832
|
0.67656
|
NM_001999.4(FBN2):c.533-2432T>C
|
rs17677603
|
0.50039
|
NM_001999.4(FBN2):c.6880+17G>A
|
rs2042327
|
0.45423
|
NM_000138.5(FBN1):c.1875T>C (p.Asn625=)
|
rs25458
|
0.25074
|
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.8274C>T (p.Ser2758=)
|
rs10070365
|
0.13267
|
NM_001999.4(FBN2):c.6931A>G (p.Met2311Val)
|
rs32209
|
0.11103
|
NM_001999.4(FBN2):c.183C>G (p.Pro61=)
|
rs73348287
|
0.10581
|
NM_001999.4(FBN2):c.5823T>C (p.His1941=)
|
rs11955288
|
0.09446
|
NM_001999.4(FBN2):c.4718-13T>C
|
rs10044959
|
0.07765
|
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_003036.4(SKI):c.185C>G (p.Ala62Gly)
|
rs28384811
|
0.05253
|
NM_001999.4(FBN2):c.5675-9del
|
rs112666443
|
0.05000
|
NM_001999.4(FBN2):c.6292+12C>A
|
rs10042349
|
0.04495
|
NM_001032283.3(TMPO):c.565+1369C>G
|
rs35969221
|
0.03471
|
NM_001999.4(FBN2):c.203C>T (p.Ala68Val)
|
rs62390671
|
0.03303
|
NM_000138.5(FBN1):c.6855T>C (p.Asp2285=)
|
rs363836
|
0.02755
|
NM_001999.4(FBN2):c.8733C>G (p.Leu2911=)
|
rs34383505
|
0.02500
|
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_000138.5(FBN1):c.7819+8A>C
|
rs363838
|
0.02324
|
NM_001032283.3(TMPO):c.565+1665A>G
|
rs11838270
|
0.02179
|
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_001032283.3(TMPO):c.565+1132T>G
|
rs35998138
|
0.01742
|
NM_001032283.3(TMPO):c.565+1853G>C
|
rs35761089
|
0.01735
|
NM_000138.5(FBN1):c.4460-19A>G
|
rs55840194
|
0.01556
|
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.3442C>G (p.Pro1148Ala)
|
rs140598
|
0.01315
|
NM_001032283.3(TMPO):c.565+2051T>A
|
rs12316677
|
0.01280
|
NM_001032283.3(TMPO):c.565+1890T>G
|
rs80325832
|
0.01253
|
NM_001032283.3(TMPO):c.565+1344G>C
|
rs114939776
|
0.01252
|
NM_003036.4(SKI):c.294C>T (p.Thr98=)
|
rs115746142
|
0.01188
|
NM_003239.5(TGFB3):c.1122C>G (p.Ala374=)
|
rs4252345
|
0.01156
|
NM_000138.5(FBN1):c.3294C>T (p.Asp1098=)
|
rs140587
|
0.01051
|
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_003036.4(SKI):c.1211+11G>A
|
rs115186522
|
0.00934
|
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_001999.4(FBN2):c.4312G>A (p.Glu1438Lys)
|
rs56168072
|
0.00832
|
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_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_001032283.3(TMPO):c.565+2487C>T
|
rs17028450
|
0.00576
|
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_003239.5(TGFB3):c.39C>T (p.Ala13=)
|
rs11466415
|
0.00461
|
NM_000138.5(FBN1):c.6594C>T (p.Pro2198=)
|
rs111844882
|
0.00439
|
NM_000138.5(FBN1):c.1746C>T (p.Cys582=)
|
rs112366266
|
0.00436
|
NM_000138.5(FBN1):c.3675G>A (p.Pro1225=)
|
rs148147223
|
0.00436
|
NM_000138.5(FBN1):c.4905C>G (p.Thr1635=)
|
rs113115949
|
0.00435
|
NM_001999.4(FBN2):c.6000A>G (p.Leu2000=)
|
rs148293104
|
0.00434
|
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_003036.4(SKI):c.1834C>T (p.Leu612=)
|
rs35833638
|
0.00418
|
NM_003036.4(SKI):c.1163C>T (p.Ala388Val)
|
rs75280988
|
0.00410
|
NM_001999.4(FBN2):c.5496C>T (p.Arg1832=)
|
rs35346129
|
0.00388
|
NM_000138.5(FBN1):c.306C>T (p.Cys102=)
|
rs25388
|
0.00372
|
NM_001999.4(FBN2):c.6511+5G>A
|
rs200608284
|
0.00363
|
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_001999.4(FBN2):c.7824C>T (p.Thr2608=)
|
rs28763922
|
0.00339
|
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_000138.5(FBN1):c.8283A>T (p.Thr2761=)
|
rs146120912
|
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_001032283.3(TMPO):c.565+1240G>A
|
rs139700737
|
0.00284
|
NM_003036.4(SKI):c.1527C>T (p.Ser509=)
|
rs111935632
|
0.00270
|
NM_000138.5(FBN1):c.7497A>G (p.Leu2499=)
|
rs148516442
|
0.00268
|
NM_001999.4(FBN2):c.4206C>T (p.Asn1402=)
|
rs34201226
|
0.00261
|
NM_001999.4(FBN2):c.8247A>G (p.Thr2749=)
|
rs116413101
|
0.00251
|
NM_001999.4(FBN2):c.2428+6T>A
|
rs77493726
|
0.00225
|
NM_001999.4(FBN2):c.7471+6G>A
|
rs200998513
|
0.00205
|
NM_001999.4(FBN2):c.738G>A (p.Ala246=)
|
rs150087436
|
0.00200
|
NM_001032283.3(TMPO):c.565+1728G>C
|
rs145703021
|
0.00188
|
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_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_001032283.3(TMPO):c.87C>T (p.Ala29=)
|
rs114074541
|
0.00153
|
NM_001999.4(FBN2):c.953-8T>G
|
rs201818403
|
0.00152
|
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_001999.4(FBN2):c.2555-7A>G
|
rs28763949
|
0.00137
|
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_003036.4(SKI):c.1338C>T (p.Leu446=)
|
rs148632347
|
0.00130
|
NM_000138.5(FBN1):c.3463+3A>G
|
rs80344206
|
0.00128
|
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_000138.5(FBN1):c.6073G>T (p.Ala2025Ser)
|
rs113577372
|
0.00115
|
NM_001999.4(FBN2):c.4791C>T (p.Ile1597=)
|
rs147040906
|
0.00115
|
NM_000138.5(FBN1):c.7950T>C (p.Asn2650=)
|
rs143055643
|
0.00113
|
NM_001999.4(FBN2):c.5353+10C>T
|
rs113589974
|
0.00110
|
NM_000138.5(FBN1):c.6681A>C (p.Ser2227=)
|
rs363824
|
0.00109
|
NM_001999.4(FBN2):c.4100-9G>T
|
rs377002313
|
0.00106
|
NM_001999.4(FBN2):c.4949-18C>G
|
rs372234336
|
0.00106
|
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.4222+12A>G
|
rs79445561
|
0.00101
|
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_000138.5(FBN1):c.6837G>A (p.Gly2279=)
|
rs140584234
|
0.00094
|
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_000138.5(FBN1):c.6987C>G (p.Asp2329Glu)
|
rs363831
|
0.00089
|
NM_003238.6(TGFB2):c.114G>A (p.Glu38=)
|
rs149215818
|
0.00087
|
NM_000138.5(FBN1):c.6616+17G>A
|
rs363822
|
0.00086
|
NM_001999.4(FBN2):c.3974-19T>C
|
rs112950479
|
0.00083
|
NM_001999.4(FBN2):c.2427T>A (p.Ile809=)
|
rs139686090
|
0.00081
|
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_000138.5(FBN1):c.2934C>G (p.Asp978Glu)
|
rs138438849
|
0.00070
|
NM_001999.4(FBN2):c.436+16G>A
|
rs372098570
|
0.00068
|
NM_000138.5(FBN1):c.3077T>C (p.Phe1026Ser)
|
rs200381100
|
0.00067
|
NM_001999.4(FBN2):c.132G>C (p.Pro44=)
|
rs199702573
|
0.00067
|
NM_003036.4(SKI):c.1308C>T (p.Ala436=)
|
rs139034124
|
0.00064
|
NM_001999.4(FBN2):c.7841-16G>T
|
rs201231807
|
0.00063
|
NM_001999.4(FBN2):c.1749G>A (p.Gly583=)
|
rs75940000
|
0.00061
|
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_003239.5(TGFB3):c.517-16T>C
|
rs3917176
|
0.00050
|
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_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_000138.5(FBN1):c.3890A>G (p.Glu1297Gly)
|
rs200342067
|
0.00043
|
NM_000138.5(FBN1):c.645A>C (p.Arg215=)
|
rs200062771
|
0.00043
|
NM_000138.5(FBN1):c.2148A>G (p.Gly716=)
|
rs141039922
|
0.00042
|
NM_001999.4(FBN2):c.8043C>A (p.Pro2681=)
|
rs149502195
|
0.00041
|
NM_001032283.3(TMPO):c.565+1105C>T
|
rs138790561
|
0.00038
|
NM_003238.6(TGFB2):c.588C>T (p.Gly196=)
|
rs192335285
|
0.00038
|
NM_001999.4(FBN2):c.7263G>A (p.Gln2421=)
|
rs114376818
|
0.00036
|
NM_000138.5(FBN1):c.5964C>T (p.Thr1988=)
|
rs113022801
|
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_000138.5(FBN1):c.5788+10C>A
|
rs371560107
|
0.00032
|
NM_003036.4(SKI):c.516C>T (p.Pro172=)
|
rs182513685
|
0.00032
|
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_003036.4(SKI):c.1767+9G>C
|
rs181520853
|
0.00028
|
NM_000138.5(FBN1):c.4443C>T (p.Ser1481=)
|
rs145040593
|
0.00026
|
NM_001999.4(FBN2):c.2249-19A>G
|
rs193091226
|
0.00026
|
NM_001999.4(FBN2):c.5353+16G>A
|
rs187448568
|
0.00026
|
NM_001999.4(FBN2):c.8364+18dup
|
rs752497923
|
0.00026
|
NM_000138.5(FBN1):c.2678-12T>C
|
rs200368037
|
0.00024
|
NM_001999.4(FBN2):c.297T>C (p.Pro99=)
|
rs79375977
|
0.00024
|
NM_001999.4(FBN2):c.5430T>C (p.Asp1810=)
|
rs750681115
|
0.00023
|
NM_003036.4(SKI):c.1474+15C>T
|
rs369979606
|
0.00023
|
NM_003239.5(TGFB3):c.647-12C>G
|
rs61762490
|
0.00023
|
NM_001999.4(FBN2):c.5670T>C (p.Cys1890=)
|
rs74811638
|
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_001999.4(FBN2):c.8049G>A (p.Gly2683=)
|
rs138044126
|
0.00020
|
NM_000138.5(FBN1):c.79G>A (p.Ala27Thr)
|
rs25397
|
0.00019
|
NM_001999.4(FBN2):c.3322A>C (p.Met1108Leu)
|
rs148127874
|
0.00019
|
NM_000138.5(FBN1):c.76G>C (p.Asp26His)
|
rs146267697
|
0.00018
|
NM_001999.4(FBN2):c.6253C>G (p.Pro2085Ala)
|
rs34845843
|
0.00018
|
NM_000138.5(FBN1):c.3514G>A (p.Val1172Met)
|
rs200125037
|
0.00017
|
NM_000138.5(FBN1):c.3454G>A (p.Ala1152Thr)
|
rs140890215
|
0.00016
|
NM_001032283.3(TMPO):c.565+1298G>A
|
rs370939324
|
0.00016
|
NM_001999.4(FBN2):c.3862G>A (p.Glu1288Lys)
|
rs371512923
|
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_000138.5(FBN1):c.1371C>G (p.Arg457=)
|
rs25436
|
0.00015
|
NM_001999.4(FBN2):c.5602A>T (p.Ile1868Phe)
|
rs150931558
|
0.00015
|
NM_001999.4(FBN2):c.6064G>A (p.Ala2022Thr)
|
rs545524318
|
0.00014
|
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_003239.5(TGFB3):c.88T>C (p.Leu30=)
|
rs3917145
|
0.00013
|
NM_000138.5(FBN1):c.3798T>C (p.Tyr1266=)
|
rs112987543
|
0.00012
|
NM_001032283.3(TMPO):c.280-9T>C
|
rs756782828
|
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.1651A>G (p.Asn551Asp)
|
rs138389072
|
0.00011
|
NM_001999.4(FBN2):c.1850-14A>G
|
rs201359451
|
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_000138.5(FBN1):c.2892C>T (p.Asp964=)
|
rs116945525
|
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.2856G>T (p.Thr952=)
|
rs556038110
|
0.00010
|
NM_001999.4(FBN2):c.3217+13G>A
|
rs572013507
|
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.8674G>T (p.Asp2892Tyr)
|
rs557212203
|
0.00010
|
NM_000138.5(FBN1):c.1345G>A (p.Val449Ile)
|
rs139058991
|
0.00009
|
NM_000138.5(FBN1):c.396T>C (p.Asp132=)
|
rs147481356
|
0.00009
|
NM_000138.5(FBN1):c.7846A>G (p.Ile2616Val)
|
rs143677764
|
0.00009
|
NM_000138.5(FBN1):c.8141C>T (p.Ala2714Val)
|
rs772795413
|
0.00009
|
NM_001999.4(FBN2):c.3013T>C (p.Leu1005=)
|
rs147633551
|
0.00009
|
NM_000138.5(FBN1):c.2294-14C>G
|
rs201446948
|
0.00008
|
NM_001999.4(FBN2):c.3518C>G (p.Thr1173Ser)
|
rs199678757
|
0.00008
|
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_001999.4(FBN2):c.2096-19G>A
|
rs369377429
|
0.00007
|
NM_001999.4(FBN2):c.2480G>A (p.Arg827Gln)
|
rs150735582
|
0.00007
|
NM_001999.4(FBN2):c.5495G>A (p.Arg1832His)
|
rs140276399
|
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_000138.5(FBN1):c.1316G>A (p.Arg439Gln)
|
rs568810058
|
0.00006
|
NM_000138.5(FBN1):c.3013G>A (p.Glu1005Lys)
|
rs564713154
|
0.00006
|
NM_000138.5(FBN1):c.4211-10C>T
|
rs28730793
|
0.00006
|
NM_000138.5(FBN1):c.5672-15C>G
|
rs776163620
|
0.00006
|
NM_000138.5(FBN1):c.6577G>A (p.Glu2193Lys)
|
rs201361628
|
0.00006
|
NM_000138.5(FBN1):c.7902C>T (p.Pro2634=)
|
rs138621371
|
0.00006
|
NM_000138.5(FBN1):c.8300A>G (p.Asn2767Ser)
|
rs536503540
|
0.00006
|
NM_000138.5(FBN1):c.8311G>A (p.Val2771Ile)
|
rs193922244
|
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.1682A>G (p.His561Arg)
|
rs28763951
|
0.00006
|
NM_001999.4(FBN2):c.2978G>A (p.Arg993His)
|
rs774483323
|
0.00006
|
NM_001999.4(FBN2):c.3405G>A (p.Pro1135=)
|
rs185809581
|
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.8058C>A (p.Phe2686Leu)
|
rs150734807
|
0.00006
|
NM_001999.4(FBN2):c.8520C>T (p.Asn2840=)
|
rs139098335
|
0.00006
|
NM_000138.5(FBN1):c.155C>T (p.Ala52Val)
|
rs1258637670
|
0.00005
|
NM_000138.5(FBN1):c.4316C>G (p.Ala1439Gly)
|
rs755085498
|
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_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.3414T>C (p.Phe1138=)
|
rs769005512
|
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_003036.4(SKI):c.994A>G (p.Ile332Val)
|
rs374264201
|
0.00005
|
NM_003239.5(TGFB3):c.1081-14A>G
|
rs201379167
|
0.00005
|
NM_000138.5(FBN1):c.1885G>A (p.Val629Ile)
|
rs140503215
|
0.00004
|
NM_000138.5(FBN1):c.2290G>A (p.Val764Ile)
|
rs769641351
|
0.00004
|
NM_000138.5(FBN1):c.2753C>G (p.Pro918Arg)
|
rs557798071
|
0.00004
|
NM_000138.5(FBN1):c.4176G>A (p.Lys1392=)
|
rs141633998
|
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.565+1421A>G
|
rs772426890
|
0.00004
|
NM_001999.4(FBN2):c.1103C>T (p.Ser368Leu)
|
rs562268545
|
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.2363G>A (p.Arg788His)
|
rs368116715
|
0.00004
|
NM_001999.4(FBN2):c.3793G>A (p.Glu1265Lys)
|
rs776031352
|
0.00004
|
NM_001999.4(FBN2):c.4286C>T (p.Pro1429Leu)
|
rs771467729
|
0.00004
|
NM_001999.4(FBN2):c.4418G>A (p.Arg1473His)
|
rs140812463
|
0.00004
|
NM_001999.4(FBN2):c.6153C>T (p.Ser2051=)
|
rs888075207
|
0.00004
|
NM_001999.4(FBN2):c.6539G>A (p.Gly2180Asp)
|
rs537628586
|
0.00004
|
NM_001999.4(FBN2):c.8230T>G (p.Tyr2744Asp)
|
rs752138290
|
0.00004
|
NM_003036.4(SKI):c.1041C>T (p.Ser347=)
|
rs140745811
|
0.00004
|
NM_003036.4(SKI):c.138C>T (p.Ala46=)
|
rs745527890
|
0.00004
|
NM_003239.5(TGFB3):c.288C>T (p.Thr96=)
|
rs201047560
|
0.00004
|
NM_003239.5(TGFB3):c.387C>T (p.Ser129=)
|
rs749768136
|
0.00004
|
NM_000138.5(FBN1):c.1992A>T (p.Gly664=)
|
rs183929553
|
0.00003
|
NM_000138.5(FBN1):c.2745A>G (p.Glu915=)
|
rs1285398012
|
0.00003
|
NM_000138.5(FBN1):c.3389A>G (p.His1130Arg)
|
rs747189975
|
0.00003
|
NM_000138.5(FBN1):c.3610A>G (p.Met1204Val)
|
rs775707895
|
0.00003
|
NM_000138.5(FBN1):c.4210+10C>T
|
rs200548889
|
0.00003
|
NM_000138.5(FBN1):c.6819G>A (p.Met2273Ile)
|
rs778027769
|
0.00003
|
NM_000138.5(FBN1):c.6903C>T (p.Ile2301=)
|
rs146930301
|
0.00003
|
NM_000138.5(FBN1):c.7241G>A (p.Arg2414Gln)
|
rs143863014
|
0.00003
|
NM_000138.5(FBN1):c.885T>G (p.Ile295Met)
|
rs151056963
|
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.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.2943G>T (p.Glu981Asp)
|
rs142249689
|
0.00003
|
NM_001999.4(FBN2):c.3093G>A (p.Ala1031=)
|
rs528529593
|
0.00003
|
NM_001999.4(FBN2):c.3820C>T (p.Leu1274=)
|
rs192602314
|
0.00003
|
NM_001999.4(FBN2):c.5191A>G (p.Asn1731Asp)
|
rs1476723489
|
0.00003
|
NM_001999.4(FBN2):c.5353+11G>A
|
rs572393472
|
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.6505C>T (p.Arg2169Cys)
|
rs1450302477
|
0.00003
|
NM_001999.4(FBN2):c.733C>T (p.Arg245Trp)
|
rs146941428
|
0.00003
|
NM_001999.4(FBN2):c.7525A>G (p.Thr2509Ala)
|
rs752627315
|
0.00003
|
NM_001999.4(FBN2):c.8332A>C (p.Lys2778Gln)
|
rs371715068
|
0.00003
|
NM_001999.4(FBN2):c.8644G>C (p.Glu2882Gln)
|
rs765693576
|
0.00003
|
NM_003036.4(SKI):c.1573G>A (p.Val525Ile)
|
rs141961299
|
0.00003
|
NM_000138.5(FBN1):c.2547C>G (p.Ile849Met)
|
rs778258207
|
0.00002
|
NM_000138.5(FBN1):c.3446A>G (p.Asn1149Ser)
|
rs147584221
|
0.00002
|
NM_000138.5(FBN1):c.4665T>C (p.Val1555=)
|
rs191569116
|
0.00002
|
NM_000138.5(FBN1):c.5788+19G>A
|
rs758996081
|
0.00002
|
NM_000138.5(FBN1):c.7400A>G (p.Gln2467Arg)
|
rs770839761
|
0.00002
|
NM_000138.5(FBN1):c.8327G>A (p.Arg2776Gln)
|
rs748327743
|
0.00002
|
NM_001999.4(FBN2):c.1897A>G (p.Ile633Val)
|
rs748419325
|
0.00002
|
NM_001999.4(FBN2):c.1973-20T>C
|
rs774598343
|
0.00002
|
NM_001999.4(FBN2):c.2901A>G (p.Pro967=)
|
rs185991527
|
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.6329A>G (p.Asn2110Ser)
|
rs1016100479
|
0.00002
|
NM_001999.4(FBN2):c.6490A>G (p.Ser2164Gly)
|
rs763160605
|
0.00002
|
NM_001999.4(FBN2):c.6910G>A (p.Asp2304Asn)
|
rs368802769
|
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.8498G>A (p.Arg2833His)
|
rs753753954
|
0.00002
|
NM_003036.4(SKI):c.190G>A (p.Val64Met)
|
rs754036418
|
0.00002
|
NM_003239.5(TGFB3):c.927-20A>G
|
rs574227787
|
0.00002
|
NM_000138.5(FBN1):c.1118C>T (p.Ala373Val)
|
rs762598979
|
0.00001
|
NM_000138.5(FBN1):c.1837+9T>C
|
rs56102085
|
0.00001
|
NM_000138.5(FBN1):c.1977C>T (p.Ser659=)
|
rs750118053
|
0.00001
|
NM_000138.5(FBN1):c.2773C>G (p.Leu925Val)
|
rs149681175
|
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.3452C>T (p.Ser1151Phe)
|
rs145146283
|
0.00001
|
NM_000138.5(FBN1):c.3740A>T (p.Asn1247Ile)
|
rs568625812
|
0.00001
|
NM_000138.5(FBN1):c.3797A>T (p.Tyr1266Phe)
|
rs200283837
|
0.00001
|
NM_000138.5(FBN1):c.3969C>T (p.Ile1323=)
|
rs536546914
|
0.00001
|
NM_000138.5(FBN1):c.4012G>A (p.Val1338Ile)
|
rs1416288007
|
0.00001
|
NM_000138.5(FBN1):c.4306G>A (p.Val1436Met)
|
rs377338217
|
0.00001
|
NM_000138.5(FBN1):c.4816+14C>T
|
rs572479986
|
0.00001
|
NM_000138.5(FBN1):c.4913A>C (p.Tyr1638Ser)
|
rs374520085
|
0.00001
|
NM_000138.5(FBN1):c.5582G>A (p.Ser1861Asn)
|
rs766358553
|
0.00001
|
NM_000138.5(FBN1):c.6038-8T>A
|
rs569460847
|
0.00001
|
NM_000138.5(FBN1):c.6932G>A (p.Arg2311His)
|
rs141868829
|
0.00001
|
NM_000138.5(FBN1):c.6970G>A (p.Ala2324Thr)
|
rs148831709
|
0.00001
|
NM_000138.5(FBN1):c.75G>A (p.Ala25=)
|
rs543230518
|
0.00001
|
NM_000138.5(FBN1):c.7903G>A (p.Ala2635Thr)
|
rs746859988
|
0.00001
|
NM_000138.5(FBN1):c.8314A>G (p.Ser2772Gly)
|
rs778014965
|
0.00001
|
NM_000138.5(FBN1):c.913A>G (p.Thr305Ala)
|
rs758035051
|
0.00001
|
NM_000138.5(FBN1):c.954T>A (p.Gly318=)
|
rs753055657
|
0.00001
|
NM_001032283.3(TMPO):c.108G>T (p.Val36=)
|
rs532884813
|
0.00001
|
NM_001032283.3(TMPO):c.81G>T (p.Leu27=)
|
rs549257131
|
0.00001
|
NM_001999.4(FBN2):c.1157T>C (p.Met386Thr)
|
rs750949734
|
0.00001
|
NM_001999.4(FBN2):c.1336G>A (p.Gly446Ser)
|
rs1173562709
|
0.00001
|
NM_001999.4(FBN2):c.1418G>A (p.Gly473Glu)
|
rs376096770
|
0.00001
|
NM_001999.4(FBN2):c.14G>A (p.Arg5Gln)
|
rs1194684025
|
0.00001
|
NM_001999.4(FBN2):c.1812C>T (p.Ala604=)
|
rs745811885
|
0.00001
|
NM_001999.4(FBN2):c.2042G>A (p.Arg681His)
|
rs548605398
|
0.00001
|
NM_001999.4(FBN2):c.2271T>C (p.Ser757=)
|
rs1338036259
|
0.00001
|
NM_001999.4(FBN2):c.2375G>A (p.Arg792His)
|
rs374031658
|
0.00001
|
NM_001999.4(FBN2):c.2429-11G>A
|
rs201849584
|
0.00001
|
NM_001999.4(FBN2):c.2855C>T (p.Thr952Met)
|
rs766590294
|
0.00001
|
NM_001999.4(FBN2):c.3046G>A (p.Val1016Ile)
|
rs773235785
|
0.00001
|
NM_001999.4(FBN2):c.3209T>A (p.Phe1070Tyr)
|
rs139118782
|
0.00001
|
NM_001999.4(FBN2):c.3483A>G (p.Glu1161=)
|
rs761867143
|
0.00001
|
NM_001999.4(FBN2):c.3568G>A (p.Glu1190Lys)
|
rs755737169
|
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.4402G>A (p.Val1468Ile)
|
rs199668238
|
0.00001
|
NM_001999.4(FBN2):c.4407G>A (p.Pro1469=)
|
rs546172367
|
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.477T>C (p.Cys159=)
|
rs138601900
|
0.00001
|
NM_001999.4(FBN2):c.5225G>A (p.Arg1742Gln)
|
rs774411234
|
0.00001
|
NM_001999.4(FBN2):c.5487C>T (p.Gly1829=)
|
rs375136629
|
0.00001
|
NM_001999.4(FBN2):c.61C>T (p.Leu21Phe)
|
rs201321678
|
0.00001
|
NM_001999.4(FBN2):c.6558A>G (p.Gln2186=)
|
rs757216544
|
0.00001
|
NM_001999.4(FBN2):c.6598A>G (p.Met2200Val)
|
rs766808076
|
0.00001
|
NM_001999.4(FBN2):c.6885G>A (p.Leu2295=)
|
rs754211806
|
0.00001
|
NM_001999.4(FBN2):c.6990G>A (p.Arg2330=)
|
rs28763928
|
0.00001
|
NM_001999.4(FBN2):c.7202G>A (p.Ser2401Asn)
|
rs758124873
|
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.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.7985A>G (p.Asn2662Ser)
|
rs765867245
|
0.00001
|
NM_001999.4(FBN2):c.8099C>T (p.Ser2700Leu)
|
rs776788539
|
0.00001
|
NM_001999.4(FBN2):c.8254G>A (p.Asp2752Asn)
|
rs529742815
|
0.00001
|
NM_001999.4(FBN2):c.82G>T (p.Gly28Cys)
|
rs772841538
|
0.00001
|
NM_001999.4(FBN2):c.8325C>T (p.Ser2775=)
|
rs368712261
|
0.00001
|
NM_001999.4(FBN2):c.8437G>A (p.Gly2813Ser)
|
rs199808954
|
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.86A>C (p.Gln29Pro)
|
rs771712321
|
0.00001
|
NM_003036.4(SKI):c.471G>A (p.Gln157=)
|
rs569206617
|
0.00001
|
NM_003036.4(SKI):c.504C>T (p.Pro168=)
|
rs774588048
|
0.00001
|
NM_003238.6(TGFB2):c.501G>A (p.Glu167=)
|
rs550789732
|
0.00001
|
NM_003239.5(TGFB3):c.798C>T (p.Arg266=)
|
rs772654040
|
0.00001
|
NM_000138.5(FBN1):c.1057A>G (p.Ile353Val)
|
|
|
NM_000138.5(FBN1):c.1148-16del
|
|
|
NM_000138.5(FBN1):c.1158C>G (p.Asn386Lys)
|
rs368737502
|
|
NM_000138.5(FBN1):c.1324C>T (p.Pro442Ser)
|
|
|
NM_000138.5(FBN1):c.1415= (p.Tyr472=)
|
rs113936729
|
|
NM_000138.5(FBN1):c.165-3del
|
rs1436066063
|
|
NM_000138.5(FBN1):c.2168-15dup
|
rs762586890
|
|
NM_000138.5(FBN1):c.2385A>G (p.Gly795=)
|
rs1207115566
|
|
NM_000138.5(FBN1):c.2678-16del
|
|
|
NM_000138.5(FBN1):c.2729-17dup
|
rs35314876
|
|
NM_000138.5(FBN1):c.2729-9del
|
rs35314876
|
|
NM_000138.5(FBN1):c.2884T>C (p.Tyr962His)
|
|
|
NM_000138.5(FBN1):c.3016G>A (p.Glu1006Lys)
|
rs754040534
|
|
NM_000138.5(FBN1):c.3209-7del
|
rs2043526375
|
|
NM_000138.5(FBN1):c.3337+13del
|
rs563620440
|
|
NM_000138.5(FBN1):c.33G>C (p.Leu11=)
|
|
|
NM_000138.5(FBN1):c.347-5del
|
rs561135562
|
|
NM_000138.5(FBN1):c.359A>T (p.Asn120Ile)
|
rs753900024
|
|
NM_000138.5(FBN1):c.38T>G (p.Phe13Cys)
|
rs773614956
|
|
NM_000138.5(FBN1):c.394G>A (p.Asp132Asn)
|
|
|
NM_000138.5(FBN1):c.4088-8del
|
rs1325437178
|
|
NM_000138.5(FBN1):c.4337-55dup
|
rs138034853
|
|
NM_000138.5(FBN1):c.4459+15G>T
|
|
|
NM_000138.5(FBN1):c.4662A>C (p.Gly1554=)
|
|
|
NM_000138.5(FBN1):c.4748-11T>C
|
rs549918653
|
|
NM_000138.5(FBN1):c.477G>A (p.Arg159=)
|
rs1456579664
|
|
NM_000138.5(FBN1):c.5066-12C>A
|
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.5259A>G (p.Pro1753=)
|
|
|
NM_000138.5(FBN1):c.538+12del
|
rs755209856
|
|
NM_000138.5(FBN1):c.5423-30_5423-28del
|
rs56354352
|
|
NM_000138.5(FBN1):c.5545+14del
|
rs748182794
|
|
NM_000138.5(FBN1):c.5936T>C (p.Leu1979Pro)
|
|
|
NM_000138.5(FBN1):c.6349A>G (p.Ile2117Val)
|
rs572754741
|
|
NM_000138.5(FBN1):c.6380-13del
|
rs768078387
|
|
NM_000138.5(FBN1):c.6380-20dup
|
rs768078387
|
|
NM_000138.5(FBN1):c.6681A>G (p.Ser2227=)
|
|
|
NM_000138.5(FBN1):c.6804C>T (p.Leu2268=)
|
|
|
NM_000138.5(FBN1):c.6832C>T (p.Pro2278Ser)
|
rs363835
|
|
NM_000138.5(FBN1):c.6994C>T (p.Leu2332Phe)
|
|
|
NM_000138.5(FBN1):c.6997+18C>T
|
rs148116316
|
|
NM_000138.5(FBN1):c.7129A>G (p.Ile2377Val)
|
|
|
NM_000138.5(FBN1):c.716T>C (p.Ile239Thr)
|
|
|
NM_000138.5(FBN1):c.737-25CT[2]
|
rs72041020
|
|
NM_000138.5(FBN1):c.7819+13del
|
|
|
NM_000138.5(FBN1):c.8203G>A (p.Glu2735Lys)
|
|
|
NM_000138.5(FBN1):c.8293G>A (p.Ala2765Thr)
|
|
|
NM_000138.5(FBN1):c.863-10dup
|
rs748672558
|
|
NM_001032283.3(TMPO):c.396T>A (p.Gly132=)
|
rs397516844
|
|
NM_001999.4(FBN2):c.1038A>G (p.Pro346=)
|
|
|
NM_001999.4(FBN2):c.1079-7T>C
|
|
|
NM_001999.4(FBN2):c.10A>G (p.Arg4Gly)
|
|
|
NM_001999.4(FBN2):c.1200C>A (p.Thr400=)
|
|
|
NM_001999.4(FBN2):c.134A>C (p.Gln45Pro)
|
|
|
NM_001999.4(FBN2):c.1364G>A (p.Gly455Glu)
|
|
|
NM_001999.4(FBN2):c.1423G>C (p.Gly475Arg)
|
rs200440156
|
|
NM_001999.4(FBN2):c.18G>A (p.Arg6=)
|
|
|
NM_001999.4(FBN2):c.2359T>C (p.Leu787=)
|
|
|
NM_001999.4(FBN2):c.2457G>T (p.Leu819=)
|
|
|
NM_001999.4(FBN2):c.251G>A (p.Arg84Gln)
|
rs747084358
|
|
NM_001999.4(FBN2):c.2892C>T (p.Gly964=)
|
|
|
NM_001999.4(FBN2):c.2909G>T (p.Arg970Leu)
|
|
|
NM_001999.4(FBN2):c.3148A>C (p.Thr1050Pro)
|
|
|
NM_001999.4(FBN2):c.3217+12C>A
|
rs375688726
|
|
NM_001999.4(FBN2):c.3321C>T (p.Asp1107=)
|
|
|
NM_001999.4(FBN2):c.3354G>A (p.Glu1118=)
|
|
|
NM_001999.4(FBN2):c.3491G>A (p.Arg1164His)
|
rs1297011367
|
|
NM_001999.4(FBN2):c.363T>C (p.Asp121=)
|
|
|
NM_001999.4(FBN2):c.3786A>C (p.Gly1262=)
|
|
|
NM_001999.4(FBN2):c.3848-10G>T
|
rs140017238
|
|
NM_001999.4(FBN2):c.4135G>A (p.Asp1379Asn)
|
|
|
NM_001999.4(FBN2):c.4271A>C (p.Gln1424Pro)
|
|
|
NM_001999.4(FBN2):c.4283C>T (p.Thr1428Ile)
|
rs367961012
|
|
NM_001999.4(FBN2):c.4341C>T (p.Cys1447=)
|
|
|
NM_001999.4(FBN2):c.4386C>T (p.Asn1462=)
|
|
|
NM_001999.4(FBN2):c.4472-12del
|
rs758812755
|
|
NM_001999.4(FBN2):c.4472-12dup
|
|
|
NM_001999.4(FBN2):c.4485C>T (p.Cys1495=)
|
|
|
NM_001999.4(FBN2):c.4681G>A (p.Asp1561Asn)
|
|
|
NM_001999.4(FBN2):c.5079T>C (p.Ile1693=)
|
|
|
NM_001999.4(FBN2):c.5092G>T (p.Ala1698Ser)
|
|
|
NM_001999.4(FBN2):c.5481G>C (p.Gln1827His)
|
|
|
NM_001999.4(FBN2):c.5565C>T (p.Ser1855=)
|
|
|
NM_001999.4(FBN2):c.5598C>G (p.Asp1866Glu)
|
|
|
NM_001999.4(FBN2):c.5675-17A>T
|
|
|
NM_001999.4(FBN2):c.5811G>A (p.Glu1937=)
|
|
|
NM_001999.4(FBN2):c.5918-10T>C
|
rs547697385
|
|
NM_001999.4(FBN2):c.5G>A (p.Gly2Glu)
|
rs976599275
|
|
NM_001999.4(FBN2):c.6047-9del
|
|
|
NM_001999.4(FBN2):c.6167-4G>T
|
rs370981323
|
|
NM_001999.4(FBN2):c.6412G>A (p.Asp2138Asn)
|
|
|
NM_001999.4(FBN2):c.6570C>T (p.Thr2190=)
|
|
|
NM_001999.4(FBN2):c.6657C>T (p.Ile2219=)
|
|
|
NM_001999.4(FBN2):c.6765C>T (p.Asn2255=)
|
rs140044610
|
|
NM_001999.4(FBN2):c.67G>C (p.Ala23Pro)
|
rs893243344
|
|
NM_001999.4(FBN2):c.6881-15del
|
|
|
NM_001999.4(FBN2):c.6924G>A (p.Arg2308=)
|
|
|
NM_001999.4(FBN2):c.6948C>A (p.Ile2316=)
|
rs17608368
|
|
NM_001999.4(FBN2):c.7176G>A (p.Gln2392=)
|
|
|
NM_001999.4(FBN2):c.7201A>G (p.Ser2401Gly)
|
|
|
NM_001999.4(FBN2):c.7218T>G (p.Thr2406=)
|
|
|
NM_001999.4(FBN2):c.7449C>T (p.Asp2483=)
|
|
|
NM_001999.4(FBN2):c.7554G>A (p.Pro2518=)
|
|
|
NM_001999.4(FBN2):c.756G>A (p.Glu252=)
|
rs565550310
|
|
NM_001999.4(FBN2):c.7650C>G (p.Thr2550=)
|
rs140978642
|
|
NM_001999.4(FBN2):c.7734A>T (p.Gln2578His)
|
|
|
NM_001999.4(FBN2):c.7787G>T (p.Ser2596Ile)
|
|
|
NM_001999.4(FBN2):c.788G>A (p.Arg263Gln)
|
rs769593495
|
|
NM_001999.4(FBN2):c.8034C>T (p.Cys2678=)
|
|
|
NM_001999.4(FBN2):c.8035G>A (p.Ala2679Thr)
|
rs763870762
|
|
NM_001999.4(FBN2):c.8082C>G (p.His2694Gln)
|
rs142755118
|
|
NM_001999.4(FBN2):c.809G>T (p.Arg270Leu)
|
rs148971572
|
|
NM_001999.4(FBN2):c.8226G>A (p.Gly2742=)
|
|
|
NM_001999.4(FBN2):c.8407G>A (p.Val2803Ile)
|
|
|
NM_001999.4(FBN2):c.8538C>T (p.Arg2846=)
|
|
|
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_003036.4(SKI):c.1311C>G (p.Ala437=)
|
rs140889128
|
|
NM_003036.4(SKI):c.1311C>T (p.Ala437=)
|
rs140889128
|
|
NM_003238.6(TGFB2):c.511-10del
|
rs376560786
|
|
NM_003238.6(TGFB2):c.755-5dup
|
|
|
NM_003239.5(TGFB3):c.921C>T (p.Cys307=)
|
rs575379914
|
|
NM_003239.5(TGFB3):c.927-13dup
|
rs1303198865
|
|