NM_001999.4(FBN2):c.5675-9C>T
|
rs27713
|
0.68788
|
NM_001999.4(FBN2):c.111G>A (p.Pro37=)
|
rs55715053
|
0.14249
|
NM_001999.4(FBN2):c.183C>G (p.Pro61=)
|
rs73348287
|
0.10581
|
NM_001999.4(FBN2):c.533-92A>G
|
rs112355068
|
0.03465
|
NM_001999.4(FBN2):c.203C>T (p.Ala68Val)
|
rs62390671
|
0.03303
|
NM_001999.4(FBN2):c.1231+37C>G
|
rs28763953
|
0.03099
|
NM_001999.4(FBN2):c.6637+39A>G
|
rs17608435
|
0.02889
|
NM_001999.3(FBN2):c.-662C>A
|
rs142885655
|
0.02615
|
NM_001999.4(FBN2):c.4098A>C (p.Thr1366=)
|
rs28763943
|
0.02427
|
NM_001999.4(FBN2):c.2555-184T>G
|
rs62375019
|
0.02297
|
NM_001999.4(FBN2):c.2813-37C>A
|
rs28763947
|
0.02197
|
NM_001999.4(FBN2):c.1849+149A>G
|
rs112258148
|
0.02041
|
NM_001999.4(FBN2):c.8192+244C>T
|
rs41298328
|
0.02024
|
NM_001999.4(FBN2):c.337+185A>G
|
rs76039082
|
0.01884
|
NM_001999.4(FBN2):c.3472+328T>A
|
rs115522375
|
0.01652
|
NM_001999.4(FBN2):c.3724+57C>T
|
rs75170825
|
0.01593
|
NM_001999.4(FBN2):c.1465+271A>G
|
rs76462170
|
0.01561
|
NM_001999.4(FBN2):c.6758-89A>G
|
rs115576747
|
0.01416
|
NM_001999.4(FBN2):c.7471+324C>T
|
rs115903852
|
0.01416
|
NM_001999.4(FBN2):c.6445+185C>G
|
rs10428643
|
0.01415
|
NM_001999.4(FBN2):c.6293-272A>C
|
rs115533178
|
0.01411
|
NM_001999.4(FBN2):c.2674+135C>A
|
rs114126523
|
0.01371
|
NM_001999.4(FBN2):c.5917+238A>C
|
rs73343280
|
0.01325
|
NM_001999.4(FBN2):c.7960+208C>T
|
rs73341388
|
0.01276
|
NM_001999.4(FBN2):c.3343+266G>A
|
rs141806441
|
0.01236
|
NM_001999.4(FBN2):c.3343+185T>C
|
rs78932429
|
0.01176
|
NM_001999.4(FBN2):c.3343+206T>A
|
rs114326287
|
0.01137
|
NM_001999.4(FBN2):c.827-263G>T
|
rs141194324
|
0.01071
|
NM_001999.4(FBN2):c.6293-30T>C
|
rs188045597
|
0.01009
|
NM_001999.4(FBN2):c.2778C>T (p.Ala926=)
|
rs28763948
|
0.00992
|
NM_001999.4(FBN2):c.2428+109C>A
|
rs28763950
|
0.00979
|
NM_001999.4(FBN2):c.254+322G>A
|
rs567063128
|
0.00967
|
NM_001999.4(FBN2):c.1232-252A>G
|
rs76328881
|
0.00950
|
NM_001999.4(FBN2):c.7471+21A>G
|
rs28763924
|
0.00946
|
NM_001999.4(FBN2):c.-262C>T
|
rs540026322
|
0.00943
|
NM_001999.4(FBN2):c.827-279G>A
|
rs150728994
|
0.00923
|
NM_001999.4(FBN2):c.1466-5C>T
|
rs28763952
|
0.00887
|
NM_001999.4(FBN2):c.6758-265A>G
|
rs79209596
|
0.00880
|
NM_001999.4(FBN2):c.7296G>T (p.Gln2432His)
|
rs34600572
|
0.00870
|
NM_001999.4(FBN2):c.6166+182G>A
|
rs145832795
|
0.00854
|
NM_001999.4(FBN2):c.4312G>A (p.Glu1438Lys)
|
rs56168072
|
0.00832
|
NM_001999.4(FBN2):c.4100-183G>A
|
rs75947137
|
0.00822
|
NM_001999.4(FBN2):c.7012+284T>A
|
rs114064152
|
0.00794
|
NM_001999.4(FBN2):c.2303-110G>A
|
rs76577069
|
0.00780
|
NM_001999.4(FBN2):c.5917+119A>G
|
rs114821306
|
0.00756
|
NM_001999.4(FBN2):c.4880-227T>C
|
rs114097132
|
0.00748
|
NM_001999.4(FBN2):c.2248+283A>G
|
rs144388289
|
0.00742
|
NM_001999.4(FBN2):c.2989+99G>A
|
rs115732686
|
0.00740
|
NM_001999.4(FBN2):c.4472-270A>G
|
rs79657892
|
0.00736
|
NM_001999.4(FBN2):c.1973-157A>G
|
rs73345265
|
0.00699
|
NM_001999.4(FBN2):c.3847+21A>G
|
rs76168790
|
0.00695
|
NM_001999.4(FBN2):c.953-277C>T
|
rs116489543
|
0.00685
|
NM_001999.4(FBN2):c.953-79C>A
|
rs28763955
|
0.00684
|
NM_001999.4(FBN2):c.827-320dup
|
rs200501322
|
0.00680
|
NM_001999.4(FBN2):c.728T>C (p.Ile243Thr)
|
rs117524265
|
0.00674
|
NM_001999.4(FBN2):c.533-284C>T
|
rs138803815
|
0.00666
|
NM_001999.4(FBN2):c.2864-102T>C
|
rs114090698
|
0.00654
|
NM_001999.4(FBN2):c.976C>T (p.Pro326Ser)
|
rs28763954
|
0.00654
|
NM_001999.4(FBN2):c.7840+75G>A
|
rs115496876
|
0.00642
|
NM_001999.4(FBN2):c.8154C>T (p.Leu2718=)
|
rs34119447
|
0.00635
|
NM_001999.4(FBN2):c.826+32G>A
|
rs28763956
|
0.00626
|
NM_001999.4(FBN2):c.629-9A>G
|
rs56025995
|
0.00616
|
NM_001999.4(FBN2):c.4345+324T>C
|
rs116561386
|
0.00615
|
NM_001999.4(FBN2):c.8347G>C (p.Glu2783Gln)
|
rs76756898
|
0.00599
|
NM_001999.4(FBN2):c.6445+300A>G
|
rs73784564
|
0.00583
|
NM_001999.4(FBN2):c.3762C>T (p.Asp1254=)
|
rs2279582
|
0.00570
|
NM_001999.4(FBN2):c.7471+31T>C
|
rs73784562
|
0.00561
|
NM_001999.4(FBN2):c.4717+84T>G
|
rs28763938
|
0.00542
|
NM_001999.4(FBN2):c.4594+258T>A
|
rs144663909
|
0.00536
|
NM_001999.4(FBN2):c.1285A>G (p.Ser429Gly)
|
rs115242287
|
0.00534
|
NM_001999.4(FBN2):c.7139-33G>A
|
rs199889927
|
0.00525
|
NM_001999.4(FBN2):c.6638-231T>G
|
rs149705092
|
0.00522
|
NM_001999.4(FBN2):c.7346-196C>T
|
rs140756341
|
0.00515
|
NM_001999.4(FBN2):c.7013-36G>A
|
rs6862010
|
0.00469
|
NM_001999.4(FBN2):c.6758-129G>A
|
rs146291176
|
0.00451
|
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.6615C>T (p.Asp2205=)
|
rs28763931
|
0.00422
|
NM_001999.4(FBN2):c.3598+40A>G
|
rs182112935
|
0.00415
|
NM_001999.4(FBN2):c.2303-284T>C
|
rs114102715
|
0.00393
|
NM_001999.4(FBN2):c.2249-195T>C
|
rs140295103
|
0.00392
|
NM_001999.4(FBN2):c.6166+108A>C
|
rs113055228
|
0.00390
|
NM_001999.4(FBN2):c.5496C>T (p.Arg1832=)
|
rs35346129
|
0.00388
|
NM_001999.4(FBN2):c.2096-256G>A
|
rs115515304
|
0.00381
|
NM_001999.4(FBN2):c.3598+166T>G
|
rs141121777
|
0.00381
|
NM_001999.4(FBN2):c.8364+71G>A
|
rs151290678
|
0.00367
|
NM_001999.4(FBN2):c.6511+5G>A
|
rs200608284
|
0.00363
|
NM_001999.4(FBN2):c.1078+285A>C
|
rs11957315
|
0.00342
|
NM_001999.4(FBN2):c.2989+43A>G
|
rs116837813
|
0.00342
|
NM_001999.4(FBN2):c.7595-139A>G
|
rs73341402
|
0.00341
|
NM_001999.4(FBN2):c.7824C>T (p.Thr2608=)
|
rs28763922
|
0.00339
|
NM_001999.4(FBN2):c.1849+96G>A
|
rs116773938
|
0.00330
|
NM_001999.4(FBN2):c.4141C>A (p.His1381Asn)
|
rs78727187
|
0.00327
|
NM_001999.4(FBN2):c.338-176G>A
|
rs139820853
|
0.00326
|
NM_001999.4(FBN2):c.338-112A>G
|
rs151224144
|
0.00325
|
NM_001999.4(FBN2):c.3598+299G>A
|
rs192070791
|
0.00288
|
NM_001999.4(FBN2):c.7181T>C (p.Ile2394Thr)
|
rs28763926
|
0.00287
|
NM_001999.4(FBN2):c.-344G>C
|
rs564044015
|
0.00277
|
NM_001999.4(FBN2):c.8364+43A>G
|
rs28763919
|
0.00277
|
NM_001999.4(FBN2):c.4206C>T (p.Asn1402=)
|
rs34201226
|
0.00261
|
NM_001999.4(FBN2):c.533-31A>G
|
rs111644147
|
0.00258
|
NM_001999.4(FBN2):c.8247A>G (p.Thr2749=)
|
rs116413101
|
0.00251
|
NM_001999.4(FBN2):c.533-30T>G
|
rs140941777
|
0.00240
|
NM_001999.4(FBN2):c.2675-286T>A
|
rs529363488
|
0.00234
|
NM_001999.4(FBN2):c.829G>A (p.Val277Ile)
|
rs146849637
|
0.00210
|
NM_001999.4(FBN2):c.7471+6G>A
|
rs200998513
|
0.00205
|
NM_001999.4(FBN2):c.738G>A (p.Ala246=)
|
rs150087436
|
0.00200
|
NM_001999.4(FBN2):c.-17C>G
|
rs372089451
|
0.00199
|
NM_001999.4(FBN2):c.3218-33C>T
|
rs56381205
|
0.00197
|
NM_001999.4(FBN2):c.5353+19C>T
|
rs183524866
|
0.00179
|
NM_001999.4(FBN2):c.6551A>T (p.Asn2184Ile)
|
rs149071226
|
0.00178
|
NM_001999.4(FBN2):c.7593A>G (p.Lys2531=)
|
rs28763923
|
0.00175
|
NM_001999.4(FBN2):c.2303-222G>A
|
rs149810600
|
0.00173
|
NM_001999.4(FBN2):c.5074+183C>T
|
rs189302644
|
0.00167
|
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_001999.4(FBN2):c.953-8T>G
|
rs201818403
|
0.00152
|
NM_001999.4(FBN2):c.2260G>A (p.Gly754Ser)
|
rs145259927
|
0.00137
|
NM_001999.4(FBN2):c.2555-7A>G
|
rs28763949
|
0.00137
|
NM_001999.4(FBN2):c.*371T>G
|
rs531108136
|
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_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_001999.4(FBN2):c.4791C>T (p.Ile1597=)
|
rs147040906
|
0.00115
|
NM_001999.4(FBN2):c.110C>A (p.Pro37Gln)
|
rs201255083
|
0.00110
|
NM_001999.4(FBN2):c.5353+10C>T
|
rs113589974
|
0.00110
|
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.3351C>T (p.Asp1117=)
|
rs78484531
|
0.00102
|
NM_001999.4(FBN2):c.6655A>G (p.Ile2219Val)
|
rs140821039
|
0.00102
|
NM_001999.4(FBN2):c.3767A>G (p.Gln1256Arg)
|
rs139052603
|
0.00100
|
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_001999.4(FBN2):c.2684A>G (p.Lys895Arg)
|
rs143565958
|
0.00074
|
NM_001999.4(FBN2):c.436+16G>A
|
rs372098570
|
0.00068
|
NM_001999.4(FBN2):c.132G>C (p.Pro44=)
|
rs199702573
|
0.00067
|
NM_001999.4(FBN2):c.1749G>A (p.Gly583=)
|
rs75940000
|
0.00061
|
NM_001999.4(FBN2):c.5674+7A>G
|
rs367877964
|
0.00049
|
NM_001999.4(FBN2):c.8537G>A (p.Arg2846His)
|
rs200345491
|
0.00049
|
NM_001999.4(FBN2):c.5200+32A>C
|
rs56067608
|
0.00047
|
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_001999.4(FBN2):c.5675-8dup
|
rs767398234
|
0.00044
|
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_001999.4(FBN2):c.4246A>G (p.Thr1416Ala)
|
rs200837433
|
0.00040
|
NM_001999.4(FBN2):c.209T>C (p.Val70Ala)
|
rs144149249
|
0.00039
|
NM_001999.4(FBN2):c.8428T>A (p.Ser2810Thr)
|
rs186577030
|
0.00038
|
NM_001999.4(FBN2):c.7263G>A (p.Gln2421=)
|
rs114376818
|
0.00036
|
NM_001999.4(FBN2):c.5031C>T (p.Cys1677=)
|
rs147452231
|
0.00035
|
NM_001999.4(FBN2):c.6511+4C>T
|
rs368610241
|
0.00035
|
NM_001999.4(FBN2):c.6666G>A (p.Pro2222=)
|
rs192923239
|
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_001999.4(FBN2):c.339G>A (p.Pro113=)
|
rs144540627
|
0.00032
|
NM_001999.4(FBN2):c.7012+6C>T
|
rs749376421
|
0.00032
|
NM_001999.4(FBN2):c.1256A>G (p.Asp419Gly)
|
rs140464202
|
0.00031
|
NM_001999.4(FBN2):c.3740T>C (p.Met1247Thr)
|
rs149054177
|
0.00030
|
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_001999.4(FBN2):c.217C>A (p.Arg73Ser)
|
rs148493036
|
0.00028
|
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.8364+18dup
|
rs752497923
|
0.00026
|
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_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_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_001999.4(FBN2):c.8364+34T>G
|
rs138170806
|
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_001999.4(FBN2):c.27C>G (p.Leu9=)
|
rs369714882
|
0.00019
|
NM_001999.4(FBN2):c.6253C>G (p.Pro2085Ala)
|
rs34845843
|
0.00018
|
NM_001999.4(FBN2):c.1466-4G>A
|
rs371636769
|
0.00017
|
NM_001999.4(FBN2):c.5548+39T>C
|
rs190452627
|
0.00017
|
NM_001999.4(FBN2):c.7700C>T (p.Thr2567Ile)
|
rs150672907
|
0.00017
|
NM_001999.4(FBN2):c.3235G>T (p.Ala1079Ser)
|
rs774996980
|
0.00016
|
NM_001999.4(FBN2):c.2989+38A>C
|
rs148276970
|
0.00015
|
NM_001999.4(FBN2):c.7569G>A (p.Leu2523=)
|
rs375141964
|
0.00015
|
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.4642G>A (p.Val1548Ile)
|
rs140313460
|
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_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_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.6077C>T (p.Ser2026Phe)
|
rs139668142
|
0.00012
|
NM_001999.4(FBN2):c.6334A>G (p.Lys2112Glu)
|
rs141707850
|
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_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.157G>A (p.Gly53Ser)
|
rs146807421
|
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.3472+17C>A
|
rs747730357
|
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_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_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_001999.4(FBN2):c.2198C>G (p.Pro733Arg)
|
rs745528502
|
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.5112G>A (p.Gly1704=)
|
rs143164479
|
0.00007
|
NM_001999.4(FBN2):c.5447C>T (p.Pro1816Leu)
|
rs149537608
|
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_001999.4(FBN2):c.1666T>C (p.Tyr556His)
|
rs1256710897
|
0.00006
|
NM_001999.4(FBN2):c.2508G>A (p.Thr836=)
|
rs372872626
|
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.5423-8C>A
|
rs1195073601
|
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.8086G>A (p.Val2696Met)
|
rs373994051
|
0.00006
|
NM_001999.4(FBN2):c.8520C>T (p.Asn2840=)
|
rs139098335
|
0.00006
|
NM_001999.4(FBN2):c.1078+9C>T
|
rs371692018
|
0.00005
|
NM_001999.4(FBN2):c.1885A>G (p.Asn629Asp)
|
rs863223554
|
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.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_001999.4(FBN2):c.1078+12A>C
|
rs769211487
|
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.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.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.3701C>T (p.Thr1234Met)
|
rs368105987
|
0.00004
|
NM_001999.4(FBN2):c.377G>A (p.Arg126His)
|
rs528614556
|
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.402T>C (p.Ser134=)
|
rs189523150
|
0.00004
|
NM_001999.4(FBN2):c.4222+10C>A
|
rs376700480
|
0.00004
|
NM_001999.4(FBN2):c.4297C>T (p.Arg1433Cys)
|
rs374493286
|
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.6073G>A (p.Gly2025Ser)
|
rs772994944
|
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.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.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_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.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.2634G>A (p.Ser878=)
|
rs143905167
|
0.00003
|
NM_001999.4(FBN2):c.2674+10A>G
|
rs371734006
|
0.00003
|
NM_001999.4(FBN2):c.3279C>T (p.Ile1093=)
|
rs142809999
|
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.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.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.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.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.7477G>A (p.Asp2493Asn)
|
rs779483120
|
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.8701G>A (p.Glu2901Lys)
|
rs781069799
|
0.00003
|
NM_001999.4(FBN2):c.93G>T (p.Gln31His)
|
rs371491169
|
0.00003
|
NM_001999.4(FBN2):c.1079-10A>G
|
rs766920012
|
0.00002
|
NM_001999.4(FBN2):c.1194C>T (p.Ile398=)
|
rs766004910
|
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.1410C>T (p.Gly470=)
|
rs750103822
|
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.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.2036C>T (p.Ser679Phe)
|
rs760483684
|
0.00002
|
NM_001999.4(FBN2):c.2178C>T (p.Ser726=)
|
rs573282381
|
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.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.2902A>G (p.Asn968Asp)
|
rs774248421
|
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.3519C>G (p.Thr1173=)
|
rs369851490
|
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.4257T>C (p.Cys1419=)
|
rs757117534
|
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.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.629-6T>C
|
rs757696693
|
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.69G>T (p.Ala23=)
|
rs774856011
|
0.00002
|
NM_001999.4(FBN2):c.6G>C (p.Gly2=)
|
rs746567292
|
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.7595-13T>C
|
rs747620496
|
0.00002
|
NM_001999.4(FBN2):c.7660T>G (p.Phe2554Val)
|
rs775848753
|
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.8573C>T (p.Thr2858Met)
|
rs754475064
|
0.00002
|
NM_001999.4(FBN2):c.891C>A (p.Gly297=)
|
rs539258943
|
0.00002
|
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.1143G>T (p.Gly381=)
|
rs749428195
|
0.00001
|
NM_001999.4(FBN2):c.1151C>T (p.Thr384Met)
|
rs371826887
|
0.00001
|
NM_001999.4(FBN2):c.1152G>A (p.Thr384=)
|
rs267600336
|
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.1260A>C (p.Gly420=)
|
rs766241911
|
0.00001
|
NM_001999.4(FBN2):c.126G>A (p.Pro42=)
|
rs771657289
|
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.1431G>A (p.Gly477=)
|
rs759633050
|
0.00001
|
NM_001999.4(FBN2):c.1603+7T>C
|
rs1477450908
|
0.00001
|
NM_001999.4(FBN2):c.1604-5C>T
|
rs530806742
|
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.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.1821A>G (p.Glu607=)
|
rs776515245
|
0.00001
|
NM_001999.4(FBN2):c.1836A>G (p.Gly612=)
|
rs1399438169
|
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.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.2084G>A (p.Arg695His)
|
rs143722436
|
0.00001
|
NM_001999.4(FBN2):c.2095+7_2095+20del
|
rs1178750566
|
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.2283T>C (p.Gly761=)
|
rs1235214641
|
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.2511C>T (p.Cys837=)
|
rs756813212
|
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.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.2715C>T (p.Ser905=)
|
rs998086640
|
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.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+14C>T
|
rs775432537
|
0.00001
|
NM_001999.4(FBN2):c.2989+18A>T
|
rs769856454
|
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.3420C>T (p.Cys1140=)
|
rs756541654
|
0.00001
|
NM_001999.4(FBN2):c.3483A>G (p.Glu1161=)
|
rs761867143
|
0.00001
|
NM_001999.4(FBN2):c.3534G>C (p.Glu1178Asp)
|
rs771385579
|
0.00001
|
NM_001999.4(FBN2):c.3567C>T (p.His1189=)
|
rs945523399
|
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.3675C>T (p.Cys1225=)
|
rs141485941
|
0.00001
|
NM_001999.4(FBN2):c.3750C>T (p.Asn1250=)
|
rs750559514
|
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.3984A>G (p.Glu1328=)
|
rs1394998823
|
0.00001
|
NM_001999.4(FBN2):c.4052A>G (p.His1351Arg)
|
rs1039821634
|
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.4223-14G>T
|
rs370506719
|
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.4332C>T (p.Gly1444=)
|
rs1750666396
|
0.00001
|
NM_001999.4(FBN2):c.4346-6G>T
|
rs755217606
|
0.00001
|
NM_001999.4(FBN2):c.436+20C>T
|
rs1168120609
|
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.4515A>G (p.Thr1505=)
|
rs751938197
|
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.4680C>T (p.Pro1560=)
|
rs377502943
|
0.00001
|
NM_001999.4(FBN2):c.4690T>C (p.Leu1564=)
|
rs886038504
|
0.00001
|
NM_001999.4(FBN2):c.477T>C (p.Cys159=)
|
rs138601900
|
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.5074+7T>C
|
rs201951284
|
0.00001
|
NM_001999.4(FBN2):c.5075-4C>G
|
rs779999668
|
0.00001
|
NM_001999.4(FBN2):c.5201-3T>C
|
rs1057521162
|
0.00001
|
NM_001999.4(FBN2):c.5201-6A>G
|
rs879942478
|
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.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.5424C>T (p.Asp1808=)
|
rs774758393
|
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.5731C>T (p.Leu1911=)
|
rs768733086
|
0.00001
|
NM_001999.4(FBN2):c.573C>T (p.Ile191=)
|
rs370698125
|
0.00001
|
NM_001999.4(FBN2):c.5800+10G>A
|
rs546373462
|
0.00001
|
NM_001999.4(FBN2):c.5899C>T (p.His1967Tyr)
|
rs369652475
|
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.5965C>T (p.Arg1989Cys)
|
rs758369648
|
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.6093C>G (p.Thr2031=)
|
rs1131691293
|
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.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.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.6584G>A (p.Arg2195His)
|
rs144887443
|
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.6687C>T (p.Thr2229=)
|
rs886039206
|
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.680G>A (p.Gly227Glu)
|
rs760247833
|
0.00001
|
NM_001999.4(FBN2):c.6834G>A (p.Thr2278=)
|
rs374853253
|
0.00001
|
NM_001999.4(FBN2):c.6881-8T>G
|
rs1355994517
|
0.00001
|
NM_001999.4(FBN2):c.6896C>T (p.Ala2299Val)
|
rs756798856
|
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.7167G>A (p.Glu2389=)
|
rs761050040
|
0.00001
|
NM_001999.4(FBN2):c.7174C>A (p.Gln2392Lys)
|
rs762730300
|
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.7374C>T (p.Asn2458=)
|
rs1383809012
|
0.00001
|
NM_001999.4(FBN2):c.7405A>G (p.Met2469Val)
|
rs863223546
|
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.7595-8A>G
|
rs878854479
|
0.00001
|
NM_001999.4(FBN2):c.7653G>C (p.Leu2551=)
|
rs886038893
|
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.7960+20A>G
|
rs761551216
|
0.00001
|
NM_001999.4(FBN2):c.7961-11C>T
|
rs751924753
|
0.00001
|
NM_001999.4(FBN2):c.7961-19T>A
|
rs1057524211
|
0.00001
|
NM_001999.4(FBN2):c.8045C>T (p.Ser2682Leu)
|
rs370250073
|
0.00001
|
NM_001999.4(FBN2):c.8064G>A (p.Gln2688=)
|
rs751485739
|
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.827-19A>G
|
rs199559284
|
0.00001
|
NM_001999.4(FBN2):c.8302A>C (p.Asn2768His)
|
rs1262933234
|
0.00001
|
NM_001999.4(FBN2):c.8310T>C (p.Tyr2770=)
|
rs761386167
|
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.8437G>A (p.Gly2813Ser)
|
rs199808954
|
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.8705C>A (p.Ala2902Asp)
|
rs757052151
|
0.00001
|
NM_001999.4(FBN2):c.885A>G (p.Thr295=)
|
rs989219711
|
0.00001
|
NM_001999.4(FBN2):c.951A>G (p.Glu317=)
|
rs1326391832
|
0.00001
|
NM_001999.4(FBN2):c.953-9C>T
|
rs1181205032
|
0.00001
|
NM_001999.4(FBN2):c.*372del
|
rs544546746
|
|
NM_001999.4(FBN2):c.*93TAA[2]
|
rs199925656
|
|
NM_001999.4(FBN2):c.-2C>G
|
|
|
NM_001999.4(FBN2):c.-33C>A
|
rs1057521647
|
|
NM_001999.4(FBN2):c.-5C>G
|
|
|
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.1038A>G (p.Pro346=)
|
|
|
NM_001999.4(FBN2):c.1044A>T (p.Gly348=)
|
|
|
NM_001999.4(FBN2):c.1053C>T (p.Thr351=)
|
rs1554067080
|
|
NM_001999.4(FBN2):c.1071A>T (p.Arg357=)
|
|
|
NM_001999.4(FBN2):c.1077C>T (p.Ile359=)
|
|
|
NM_001999.4(FBN2):c.1078+10G>A
|
|
|
NM_001999.4(FBN2):c.1078+18A>C
|
|
|
NM_001999.4(FBN2):c.1078+20G>A
|
rs1057524321
|
|
NM_001999.4(FBN2):c.1078+9C>G
|
rs371692018
|
|
NM_001999.4(FBN2):c.1079-9C>T
|
|
|
NM_001999.4(FBN2):c.1107C>G (p.Gly369=)
|
|
|
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.114C>A (p.Pro38=)
|
|
|
NM_001999.4(FBN2):c.115C>A (p.Arg39=)
|
rs763202121
|
|
NM_001999.4(FBN2):c.1167C>T (p.Cys389=)
|
rs757599652
|
|
NM_001999.4(FBN2):c.117G>T (p.Arg39=)
|
|
|
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.1263T>G (p.Leu421=)
|
|
|
NM_001999.4(FBN2):c.1275A>T (p.Gly425=)
|
|
|
NM_001999.4(FBN2):c.1281A>G (p.Pro427=)
|
|
|
NM_001999.4(FBN2):c.1295C>A (p.Ser432Tyr)
|
|
|
NM_001999.4(FBN2):c.132G>A (p.Pro44=)
|
rs199702573
|
|
NM_001999.4(FBN2):c.132G>T (p.Pro44=)
|
|
|
NM_001999.4(FBN2):c.135A>G (p.Gln45=)
|
rs1182394348
|
|
NM_001999.4(FBN2):c.1380C>T (p.Pro460=)
|
|
|
NM_001999.4(FBN2):c.1386T>C (p.Pro462=)
|
rs778468050
|
|
NM_001999.4(FBN2):c.138G>A (p.Gln46=)
|
|
|
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.1416G>C (p.Gly472=)
|
|
|
NM_001999.4(FBN2):c.142C>A (p.Arg48=)
|
rs1409799200
|
|
NM_001999.4(FBN2):c.1437G>A (p.Gly479=)
|
|
|
NM_001999.4(FBN2):c.1438G>A (p.Gly480Arg)
|
|
|
NM_001999.4(FBN2):c.143G>T (p.Arg48Leu)
|
rs779831723
|
|
NM_001999.4(FBN2):c.1443G>A (p.Gln481=)
|
rs923812426
|
|
NM_001999.4(FBN2):c.1452C>T (p.Ile484=)
|
|
|
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.150T>A (p.Ala50=)
|
rs543546489
|
|
NM_001999.4(FBN2):c.1512T>G (p.Leu504=)
|
|
|
NM_001999.4(FBN2):c.1526G>A (p.Arg509His)
|
rs199587570
|
|
NM_001999.4(FBN2):c.1530T>C (p.Cys510=)
|
rs376596781
|
|
NM_001999.4(FBN2):c.1537A>G (p.Thr513Ala)
|
|
|
NM_001999.4(FBN2):c.153A>C (p.Thr51=)
|
|
|
NM_001999.4(FBN2):c.1543T>A (p.Ser515Thr)
|
rs528255772
|
|
NM_001999.4(FBN2):c.1572T>G (p.Gly524=)
|
|
|
NM_001999.4(FBN2):c.1589A>G (p.Asn530Ser)
|
|
|
NM_001999.4(FBN2):c.1603+15C>G
|
|
|
NM_001999.4(FBN2):c.1603+19A>G
|
|
|
NM_001999.4(FBN2):c.1603+9G>C
|
rs774984154
|
|
NM_001999.4(FBN2):c.1604-7C>T
|
rs2126960298
|
|
NM_001999.4(FBN2):c.1604-8G>C
|
|
|
NM_001999.4(FBN2):c.1614A>G (p.Glu538=)
|
|
|
NM_001999.4(FBN2):c.162T>G (p.Ser54=)
|
|
|
NM_001999.4(FBN2):c.1644T>C (p.Asp548=)
|
|
|
NM_001999.4(FBN2):c.1662T>C (p.Gly554=)
|
rs1400948280
|
|
NM_001999.4(FBN2):c.1665C>T (p.Ser555=)
|
|
|
NM_001999.4(FBN2):c.1686T>G (p.Ala562=)
|
rs1581251758
|
|
NM_001999.4(FBN2):c.168C>T (p.Gly56=)
|
rs778237524
|
|
NM_001999.4(FBN2):c.1723+12T>G
|
|
|
NM_001999.4(FBN2):c.1724-14C>A
|
|
|
NM_001999.4(FBN2):c.1724-4C>A
|
rs886432251
|
|
NM_001999.4(FBN2):c.1759A>G (p.Lys587Glu)
|
|
|
NM_001999.4(FBN2):c.175C>T (p.Leu59=)
|
|
|
NM_001999.4(FBN2):c.1764C>T (p.Asn588=)
|
|
|
NM_001999.4(FBN2):c.1773C>T (p.Cys591=)
|
rs763629454
|
|
NM_001999.4(FBN2):c.1797G>A (p.Gln599=)
|
|
|
NM_001999.4(FBN2):c.180G>A (p.Ala60=)
|
|
|
NM_001999.4(FBN2):c.1839A>G (p.Lys613=)
|
|
|
NM_001999.4(FBN2):c.1849+12G>A
|
rs777910433
|
|
NM_001999.4(FBN2):c.1849+20C>T
|
|
|
NM_001999.4(FBN2):c.1849+5G>A
|
rs1561426412
|
|
NM_001999.4(FBN2):c.189T>C (p.Tyr63=)
|
rs1435288732
|
|
NM_001999.4(FBN2):c.1917C>T (p.Phe639=)
|
|
|
NM_001999.4(FBN2):c.1945T>C (p.Leu649=)
|
|
|
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.1961G>C (p.Arg654Pro)
|
rs780589159
|
|
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.198G>A (p.Glu66=)
|
|
|
NM_001999.4(FBN2):c.1990A>G (p.Thr664Ala)
|
rs746408145
|
|
NM_001999.4(FBN2):c.1995A>G (p.Pro665=)
|
|
|
NM_001999.4(FBN2):c.2014C>T (p.His672Tyr)
|
|
|
NM_001999.4(FBN2):c.2042G>T (p.Arg681Leu)
|
rs548605398
|
|
NM_001999.4(FBN2):c.2049C>T (p.Asp683=)
|
|
|
NM_001999.4(FBN2):c.2053C>A (p.Pro685Thr)
|
rs141291125
|
|
NM_001999.4(FBN2):c.2055C>G (p.Pro685=)
|
|
|
NM_001999.4(FBN2):c.2060G>A (p.Gly687Asp)
|
|
|
NM_001999.4(FBN2):c.2064G>C (p.Leu688=)
|
|
|
NM_001999.4(FBN2):c.2095+7_2095+22delinsT
|
rs1064794511
|
|
NM_001999.4(FBN2):c.2095+8A>T
|
|
|
NM_001999.4(FBN2):c.2096-306A>C
|
rs115985327
|
|
NM_001999.4(FBN2):c.2103C>T (p.His701=)
|
rs148920354
|
|
NM_001999.4(FBN2):c.2121T>C (p.Tyr707=)
|
|
|
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.216C>T (p.Ser72=)
|
|
|
NM_001999.4(FBN2):c.2187C>T (p.Cys729=)
|
|
|
NM_001999.4(FBN2):c.2196T>C (p.Asn732=)
|
|
|
NM_001999.4(FBN2):c.2199A>G (p.Pro733=)
|
rs1751863542
|
|
NM_001999.4(FBN2):c.21G>A (p.Leu7=)
|
rs1002853093
|
|
NM_001999.4(FBN2):c.21G>C (p.Leu7=)
|
|
|
NM_001999.4(FBN2):c.2236G>A (p.Ala746Thr)
|
|
|
NM_001999.4(FBN2):c.2248+11G>C
|
|
|
NM_001999.4(FBN2):c.2249-15C>T
|
|
|
NM_001999.4(FBN2):c.2249-18T>C
|
rs996601598
|
|
NM_001999.4(FBN2):c.2249-7C>A
|
|
|
NM_001999.4(FBN2):c.225C>T (p.Arg75=)
|
|
|
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.2340C>T (p.Ala780=)
|
rs1060504935
|
|
NM_001999.4(FBN2):c.2359T>A (p.Leu787Ile)
|
rs756348656
|
|
NM_001999.4(FBN2):c.2367T>C (p.Gly789=)
|
|
|
NM_001999.4(FBN2):c.2376T>C (p.Arg792=)
|
|
|
NM_001999.4(FBN2):c.2403A>T (p.Pro801=)
|
|
|
NM_001999.4(FBN2):c.2428+12G>T
|
|
|
NM_001999.4(FBN2):c.2428+18T>C
|
rs775383249
|
|
NM_001999.4(FBN2):c.2429-17T>G
|
|
|
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.2479C>A (p.Arg827=)
|
|
|
NM_001999.4(FBN2):c.2486C>T (p.Thr829Met)
|
|
|
NM_001999.4(FBN2):c.2487G>A (p.Thr829=)
|
rs779455710
|
|
NM_001999.4(FBN2):c.2493A>G (p.Gly831=)
|
|
|
NM_001999.4(FBN2):c.249C>T (p.Leu83=)
|
|
|
NM_001999.4(FBN2):c.2517A>G (p.Pro839=)
|
|
|
NM_001999.4(FBN2):c.251G>C (p.Arg84Pro)
|
|
|
NM_001999.4(FBN2):c.2538G>A (p.Glu846=)
|
|
|
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.2555-20C>G
|
|
|
NM_001999.4(FBN2):c.2555-8G>T
|
rs2126931540
|
|
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.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.2607C>T (p.Asn869=)
|
|
|
NM_001999.4(FBN2):c.261C>T (p.Asn87=)
|
|
|
NM_001999.4(FBN2):c.2621A>G (p.Asn874Ser)
|
|
|
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.2637C>T (p.Pro879=)
|
|
|
NM_001999.4(FBN2):c.2646A>G (p.Lys882=)
|
rs1035674949
|
|
NM_001999.4(FBN2):c.264G>T (p.Val88=)
|
rs1167442198
|
|
NM_001999.4(FBN2):c.2670T>C (p.Cys890=)
|
|
|
NM_001999.4(FBN2):c.2674+9del
|
rs2126931306
|
|
NM_001999.4(FBN2):c.2675-20C>T
|
|
|
NM_001999.4(FBN2):c.2679C>G (p.Ser893Arg)
|
rs778473524
|
|
NM_001999.4(FBN2):c.2694T>C (p.Cys898=)
|
|
|
NM_001999.4(FBN2):c.2727G>C (p.Val909=)
|
|
|
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.2754T>G (p.Ser918=)
|
|
|
NM_001999.4(FBN2):c.2787G>A (p.Gly929=)
|
|
|
NM_001999.4(FBN2):c.2812+14T>C
|
|
|
NM_001999.4(FBN2):c.2812+9C>A
|
rs751293821
|
|
NM_001999.4(FBN2):c.282C>T (p.His94=)
|
|
|
NM_001999.4(FBN2):c.2839A>C (p.Arg947=)
|
rs752949752
|
|
NM_001999.4(FBN2):c.2856G>A (p.Thr952=)
|
rs556038110
|
|
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.287_289del (p.Tyr96del)
|
rs555068280
|
|
NM_001999.4(FBN2):c.2886C>T (p.Phe962=)
|
rs972172170
|
|
NM_001999.4(FBN2):c.288C>T (p.Tyr96=)
|
|
|
NM_001999.4(FBN2):c.2892C>T (p.Gly964=)
|
|
|
NM_001999.4(FBN2):c.2909G>A (p.Arg970His)
|
rs368402648
|
|
NM_001999.4(FBN2):c.2919C>T (p.Asn973=)
|
|
|
NM_001999.4(FBN2):c.2925G>A (p.Lys975=)
|
|
|
NM_001999.4(FBN2):c.2931T>C (p.Ser977=)
|
|
|
NM_001999.4(FBN2):c.2961G>A (p.Thr987=)
|
rs760390469
|
|
NM_001999.4(FBN2):c.2967T>C (p.Asp989=)
|
|
|
NM_001999.4(FBN2):c.2977C>T (p.Arg993Cys)
|
rs752905724
|
|
NM_001999.4(FBN2):c.2989+13C>A
|
|
|
NM_001999.4(FBN2):c.309G>A (p.Thr103=)
|
|
|
NM_001999.4(FBN2):c.309G>T (p.Thr103=)
|
|
|
NM_001999.4(FBN2):c.3218-13A>T
|
rs200543836
|
|
NM_001999.4(FBN2):c.3218-191del
|
rs143617398
|
|
NM_001999.4(FBN2):c.3218-4T>C
|
|
|
NM_001999.4(FBN2):c.3219C>T (p.Asp1073=)
|
|
|
NM_001999.4(FBN2):c.3222C>A (p.Ile1074=)
|
rs1345516642
|
|
NM_001999.4(FBN2):c.3246G>A (p.Gly1082=)
|
|
|
NM_001999.4(FBN2):c.3285C>T (p.Ser1095=)
|
|
|
NM_001999.4(FBN2):c.3321C>T (p.Asp1107=)
|
|
|
NM_001999.4(FBN2):c.3343+12C>G
|
|
|
NM_001999.4(FBN2):c.3343+12C>T
|
rs2126911962
|
|
NM_001999.4(FBN2):c.3344-12C>T
|
|
|
NM_001999.4(FBN2):c.3344-13C>A
|
|
|
NM_001999.4(FBN2):c.3344-277C>T
|
rs138839469
|
|
NM_001999.4(FBN2):c.3344-6A>T
|
|
|
NM_001999.4(FBN2):c.3352G>A (p.Glu1118Lys)
|
rs1348701377
|
|
NM_001999.4(FBN2):c.3367C>T (p.Pro1123Ser)
|
rs764719151
|
|
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.3390C>A (p.Ile1130=)
|
|
|
NM_001999.4(FBN2):c.33C>G (p.Leu11=)
|
|
|
NM_001999.4(FBN2):c.33C>T (p.Leu11=)
|
|
|
NM_001999.4(FBN2):c.3456G>A (p.Met1152Ile)
|
rs863223565
|
|
NM_001999.4(FBN2):c.3472+10G>A
|
|
|
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.3489A>C (p.Glu1163Asp)
|
|
|
NM_001999.4(FBN2):c.3501C>G (p.Leu1167=)
|
rs2126902161
|
|
NM_001999.4(FBN2):c.3517A>T (p.Thr1173Ser)
|
rs1554123061
|
|
NM_001999.4(FBN2):c.3570G>A (p.Glu1190=)
|
rs2126902008
|
|
NM_001999.4(FBN2):c.3582C>T (p.Ser1194=)
|
rs767169845
|
|
NM_001999.4(FBN2):c.3599-13G>T
|
|
|
NM_001999.4(FBN2):c.360A>T (p.Gly120=)
|
|
|
NM_001999.4(FBN2):c.3626A>G (p.Asn1209Ser)
|
|
|
NM_001999.4(FBN2):c.3690A>T (p.Gly1230=)
|
rs774807410
|
|
NM_001999.4(FBN2):c.3693T>C (p.Tyr1231=)
|
rs1561776923
|
|
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.3725-18G>T
|
|
|
NM_001999.4(FBN2):c.3783G>C (p.Glu1261Asp)
|
|
|
NM_001999.4(FBN2):c.3792C>T (p.Tyr1264=)
|
|
|
NM_001999.4(FBN2):c.382A>G (p.Asn128Asp)
|
|
|
NM_001999.4(FBN2):c.3847+5A>G
|
rs1444917250
|
|
NM_001999.4(FBN2):c.3848-10G>A
|
rs140017238
|
|
NM_001999.4(FBN2):c.3848-1G>A
|
rs1750805468
|
|
NM_001999.4(FBN2):c.3849C>T (p.Asp1283=)
|
rs983684093
|
|
NM_001999.4(FBN2):c.3866A>G (p.Asn1289Ser)
|
|
|
NM_001999.4(FBN2):c.3885T>C (p.Asp1295=)
|
|
|
NM_001999.4(FBN2):c.3888C>T (p.Gly1296=)
|
|
|
NM_001999.4(FBN2):c.3900C>A (p.Thr1300=)
|
|
|
NM_001999.4(FBN2):c.3900C>T (p.Thr1300=)
|
rs754193286
|
|
NM_001999.4(FBN2):c.3909T>C (p.Pro1303=)
|
|
|
NM_001999.4(FBN2):c.3921C>G (p.Arg1307=)
|
|
|
NM_001999.4(FBN2):c.3973+17A>G
|
|
|
NM_001999.4(FBN2):c.3973+7A>G
|
|
|
NM_001999.4(FBN2):c.3973+96_3973+98del
|
rs547745692
|
|
NM_001999.4(FBN2):c.3974-19T>A
|
rs112950479
|
|
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.4038A>T (p.Gly1346=)
|
|
|
NM_001999.4(FBN2):c.4044C>T (p.Phe1348=)
|
|
|
NM_001999.4(FBN2):c.4089A>C (p.Thr1363=)
|
|
|
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.411A>G (p.Ile137Met)
|
|
|
NM_001999.4(FBN2):c.4143T>C (p.His1381=)
|
|
|
NM_001999.4(FBN2):c.4147T>C (p.Ser1383Pro)
|
|
|
NM_001999.4(FBN2):c.4149A>G (p.Ser1383=)
|
|
|
NM_001999.4(FBN2):c.4164A>G (p.Pro1388=)
|
|
|
NM_001999.4(FBN2):c.4203A>G (p.Gly1401=)
|
|
|
NM_001999.4(FBN2):c.4228G>A (p.Asp1410Asn)
|
rs1478574969
|
|
NM_001999.4(FBN2):c.4230C>T (p.Asp1410=)
|
rs138289440
|
|
NM_001999.4(FBN2):c.4254G>A (p.Gln1418=)
|
|
|
NM_001999.4(FBN2):c.4276G>A (p.Val1426Ile)
|
|
|
NM_001999.4(FBN2):c.4290C>A (p.Gly1430=)
|
|
|
NM_001999.4(FBN2):c.4302T>C (p.Cys1434=)
|
rs2126889007
|
|
NM_001999.4(FBN2):c.4308C>T (p.Cys1436=)
|
|
|
NM_001999.4(FBN2):c.4323T>C (p.Thr1441=)
|
|
|
NM_001999.4(FBN2):c.4329T>C (p.Asp1443=)
|
|
|
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.436+13C>T
|
|
|
NM_001999.4(FBN2):c.437-12T>C
|
|
|
NM_001999.4(FBN2):c.4389A>G (p.Gly1463=)
|
|
|
NM_001999.4(FBN2):c.4397T>G (p.Leu1466Arg)
|
|
|
NM_001999.4(FBN2):c.4404C>T (p.Val1468=)
|
|
|
NM_001999.4(FBN2):c.4407G>C (p.Pro1469=)
|
|
|
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.4471+9C>A
|
|
|
NM_001999.4(FBN2):c.4472-12del
|
rs758812755
|
|
NM_001999.4(FBN2):c.4472-18T>A
|
rs200285828
|
|
NM_001999.4(FBN2):c.4472-18T>C
|
|
|
NM_001999.4(FBN2):c.4472-18T>G
|
|
|
NM_001999.4(FBN2):c.4472-19T>A
|
|
|
NM_001999.4(FBN2):c.4472-332del
|
rs202017177
|
|
NM_001999.4(FBN2):c.4472-7T>C
|
|
|
NM_001999.4(FBN2):c.4503T>C (p.Cys1501=)
|
|
|
NM_001999.4(FBN2):c.4545C>T (p.Cys1515=)
|
rs1348263135
|
|
NM_001999.4(FBN2):c.4563T>C (p.Tyr1521=)
|
rs1434367982
|
|
NM_001999.4(FBN2):c.4573A>G (p.Arg1525Gly)
|
|
|
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.4595-4C>A
|
|
|
NM_001999.4(FBN2):c.4620A>C (p.Ile1540=)
|
|
|
NM_001999.4(FBN2):c.4626T>C (p.Cys1542=)
|
rs2126853786
|
|
NM_001999.4(FBN2):c.4659C>T (p.Arg1553=)
|
|
|
NM_001999.4(FBN2):c.465T>C (p.Asn155=)
|
|
|
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.4710T>C (p.Gly1570=)
|
|
|
NM_001999.4(FBN2):c.4717+25_4717+28del
|
rs1064795498
|
|
NM_001999.4(FBN2):c.4718-6C>T
|
|
|
NM_001999.4(FBN2):c.471G>A (p.Gly157=)
|
|
|
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.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.4828C>T (p.Leu1610=)
|
|
|
NM_001999.4(FBN2):c.4851C>G (p.Pro1617=)
|
rs759989646
|
|
NM_001999.4(FBN2):c.4863C>T (p.Cys1621=)
|
|
|
NM_001999.4(FBN2):c.4867C>T (p.Pro1623Ser)
|
rs139830237
|
|
NM_001999.4(FBN2):c.4879+12G>A
|
|
|
NM_001999.4(FBN2):c.4879+16A>G
|
rs2126847534
|
|
NM_001999.4(FBN2):c.4880-12A>G
|
rs376111927
|
|
NM_001999.4(FBN2):c.4880-14C>G
|
|
|
NM_001999.4(FBN2):c.4880-5T>C
|
|
|
NM_001999.4(FBN2):c.4896G>A (p.Leu1632=)
|
|
|
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.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.5052C>T (p.Ser1684=)
|
|
|
NM_001999.4(FBN2):c.5058T>C (p.Asp1686=)
|
|
|
NM_001999.4(FBN2):c.5068T>C (p.Cys1690Arg)
|
rs141401126
|
|
NM_001999.4(FBN2):c.5074+121dup
|
rs3215046
|
|
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.5075-297_5075-277del
|
rs201573285
|
|
NM_001999.4(FBN2):c.5075-298_5075-279del
|
rs1488546323
|
|
NM_001999.4(FBN2):c.5075-299_5075-283del
|
rs1200541681
|
|
NM_001999.4(FBN2):c.5075-299_5075-285del
|
rs1221812324
|
|
NM_001999.4(FBN2):c.5075-300_5075-279del
|
rs1203100960
|
|
NM_001999.4(FBN2):c.5075-300_5075-283del
|
rs1340754117
|
|
NM_001999.4(FBN2):c.5075-302_5075-283del
|
rs1225747622
|
|
NM_001999.4(FBN2):c.5075-302_5075-295del
|
rs199690802
|
|
NM_001999.4(FBN2):c.5075-304_5075-295del
|
rs199690802
|
|
NM_001999.4(FBN2):c.5075-7A>C
|
rs946913190
|
|
NM_001999.4(FBN2):c.5103T>C (p.Gly1701=)
|
|
|
NM_001999.4(FBN2):c.5118G>A (p.Gly1706=)
|
rs1284156837
|
|
NM_001999.4(FBN2):c.5169C>T (p.Tyr1723=)
|
|
|
NM_001999.4(FBN2):c.518C>T (p.Thr173Ile)
|
rs147157552
|
|
NM_001999.4(FBN2):c.5196C>T (p.Cys1732=)
|
rs1554120180
|
|
NM_001999.4(FBN2):c.5200+15C>T
|
rs1749988266
|
|
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.5257T>C (p.Leu1753=)
|
|
|
NM_001999.4(FBN2):c.528A>G (p.Gly176=)
|
|
|
NM_001999.4(FBN2):c.5307C>A (p.Gly1769=)
|
rs755781072
|
|
NM_001999.4(FBN2):c.532+16T>G
|
|
|
NM_001999.4(FBN2):c.533-14A>G
|
|
|
NM_001999.4(FBN2):c.533-4G>A
|
|
|
NM_001999.4(FBN2):c.5337C>T (p.Cys1779=)
|
rs1307268596
|
|
NM_001999.4(FBN2):c.533C>T (p.Pro178Leu)
|
|
|
NM_001999.4(FBN2):c.5340A>G (p.Pro1780=)
|
|
|
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.5392A>G (p.Thr1798Ala)
|
|
|
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.5423-18A>C
|
|
|
NM_001999.4(FBN2):c.5423-18A>G
|
|
|
NM_001999.4(FBN2):c.5457T>C (p.Cys1819=)
|
|
|
NM_001999.4(FBN2):c.5472C>T (p.Cys1824=)
|
rs1385121154
|
|
NM_001999.4(FBN2):c.5511A>G (p.Thr1837=)
|
|
|
NM_001999.4(FBN2):c.5548+9A>C
|
rs1057522115
|
|
NM_001999.4(FBN2):c.5549-8T>C
|
|
|
NM_001999.4(FBN2):c.5550T>C (p.Asp1850=)
|
|
|
NM_001999.4(FBN2):c.5583C>T (p.Cys1861=)
|
|
|
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.5623C>T (p.Arg1875Cys)
|
|
|
NM_001999.4(FBN2):c.5640G>A (p.Ala1880=)
|
rs762588295
|
|
NM_001999.4(FBN2):c.5673A>G (p.Val1891=)
|
rs746792907
|
|
NM_001999.4(FBN2):c.5674+12G>A
|
|
|
NM_001999.4(FBN2):c.5674+8A>G
|
rs2126838714
|
|
NM_001999.4(FBN2):c.5675-10del
|
rs886038505
|
|
NM_001999.4(FBN2):c.5675-14T>A
|
|
|
NM_001999.4(FBN2):c.5675-17A>G
|
|
|
NM_001999.4(FBN2):c.5675-18del
|
|
|
NM_001999.4(FBN2):c.5675-9delinsTT
|
rs2126838260
|
|
NM_001999.4(FBN2):c.5697T>C (p.Ile1899=)
|
|
|
NM_001999.4(FBN2):c.5700T>C (p.Pro1900=)
|
|
|
NM_001999.4(FBN2):c.5718C>T (p.Gly1906=)
|
|
|
NM_001999.4(FBN2):c.573C>A (p.Ile191=)
|
|
|
NM_001999.4(FBN2):c.5744A>T (p.Tyr1915Phe)
|
|
|
NM_001999.4(FBN2):c.5745C>T (p.Tyr1915=)
|
|
|
NM_001999.4(FBN2):c.5754C>A (p.Ile1918=)
|
rs1554119714
|
|
NM_001999.4(FBN2):c.5775T>C (p.Ala1925=)
|
|
|
NM_001999.4(FBN2):c.579C>G (p.Pro193=)
|
|
|
NM_001999.4(FBN2):c.5800+16G>A
|
|
|
NM_001999.4(FBN2):c.5800+183_5800+215del
|
rs1283210701
|
|
NM_001999.4(FBN2):c.5800+19T>C
|
rs1027122765
|
|
NM_001999.4(FBN2):c.5800+20C>T
|
rs1554119695
|
|
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.5805T>C (p.Val1935=)
|
rs777941578
|
|
NM_001999.4(FBN2):c.5818C>T (p.Arg1940Trp)
|
rs755672868
|
|
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.5886G>T (p.Gly1962=)
|
|
|
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.5914C>T (p.Leu1972=)
|
rs1554119518
|
|
NM_001999.4(FBN2):c.5917+10T>G
|
|
|
NM_001999.4(FBN2):c.5917+201T>A
|
rs26023
|
|
NM_001999.4(FBN2):c.5917+20C>T
|
|
|
NM_001999.4(FBN2):c.5917+89del
|
rs113036345
|
|
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.5918-5T>A
|
rs1057524021
|
|
NM_001999.4(FBN2):c.5937C>T (p.Ser1979=)
|
|
|
NM_001999.4(FBN2):c.5943T>C (p.Phe1981=)
|
|
|
NM_001999.4(FBN2):c.5971T>C (p.Phe1991Leu)
|
|
|
NM_001999.4(FBN2):c.5976T>C (p.Asn1992=)
|
rs1749717202
|
|
NM_001999.4(FBN2):c.6021T>C (p.Leu2007=)
|
|
|
NM_001999.4(FBN2):c.6046+10T>C
|
rs1179452976
|
|
NM_001999.4(FBN2):c.6046+16A>G
|
|
|
NM_001999.4(FBN2):c.6047-13T>C
|
|
|
NM_001999.4(FBN2):c.6055G>A (p.Glu2019Lys)
|
rs1554119321
|
|
NM_001999.4(FBN2):c.6071C>A (p.Pro2024His)
|
|
|
NM_001999.4(FBN2):c.6072C>T (p.Pro2024=)
|
|
|
NM_001999.4(FBN2):c.6075C>T (p.Gly2025=)
|
|
|
NM_001999.4(FBN2):c.6087T>G (p.Pro2029=)
|
|
|
NM_001999.4(FBN2):c.60G>C (p.Val20=)
|
|
|
NM_001999.4(FBN2):c.6147A>G (p.Val2049=)
|
|
|
NM_001999.4(FBN2):c.6154G>A (p.Glu2052Lys)
|
|
|
NM_001999.4(FBN2):c.6166+118C>A
|
rs11959932
|
|
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.6167-4G>A
|
rs370981323
|
|
NM_001999.4(FBN2):c.6195C>T (p.Asn2065=)
|
|
|
NM_001999.4(FBN2):c.6231G>A (p.Gly2077=)
|
|
|
NM_001999.4(FBN2):c.6252C>T (p.Pro2084=)
|
rs1057524589
|
|
NM_001999.4(FBN2):c.6270T>C (p.Ser2090=)
|
rs2126822027
|
|
NM_001999.4(FBN2):c.628+20T>G
|
|
|
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.6291T>G (p.Phe2097Leu)
|
rs898218975
|
|
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.6293-13C>A
|
|
|
NM_001999.4(FBN2):c.6354T>A (p.Ala2118=)
|
|
|
NM_001999.4(FBN2):c.63C>G (p.Leu21=)
|
rs2112811119
|
|
NM_001999.4(FBN2):c.6414C>T (p.Asp2138=)
|
rs1449873424
|
|
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+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.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+100_6511+106del
|
rs150320794
|
|
NM_001999.4(FBN2):c.6512-11C>A
|
rs759648926
|
|
NM_001999.4(FBN2):c.6512-11C>T
|
rs759648926
|
|
NM_001999.4(FBN2):c.6512-8T>A
|
rs2126819626
|
|
NM_001999.4(FBN2):c.6516C>T (p.Val2172=)
|
rs904224193
|
|
NM_001999.4(FBN2):c.6534C>T (p.Ser2178=)
|
rs1057524084
|
|
NM_001999.4(FBN2):c.6571G>A (p.Asp2191Asn)
|
rs1244642553
|
|
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.6638-80G>T
|
rs28763930
|
|
NM_001999.4(FBN2):c.6638-9_6638-7del
|
rs754187604
|
|
NM_001999.4(FBN2):c.6657C>T (p.Ile2219=)
|
|
|
NM_001999.4(FBN2):c.6660C>G (p.Gly2220=)
|
|
|
NM_001999.4(FBN2):c.666C>T (p.Asn222=)
|
|
|
NM_001999.4(FBN2):c.6678T>C (p.Gly2226=)
|
rs2126818668
|
|
NM_001999.4(FBN2):c.6693T>C (p.Val2231=)
|
rs1554118051
|
|
NM_001999.4(FBN2):c.6719A>G (p.Asn2240Ser)
|
rs863223612
|
|
NM_001999.4(FBN2):c.6757+8A>T
|
|
|
NM_001999.4(FBN2):c.6757+9T>C
|
|
|
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.6840G>A (p.Pro2280=)
|
rs377742525
|
|
NM_001999.4(FBN2):c.685C>T (p.Leu229=)
|
rs200698449
|
|
NM_001999.4(FBN2):c.6880+16C>T
|
|
|
NM_001999.4(FBN2):c.6880+19G>T
|
|
|
NM_001999.4(FBN2):c.6881-13T>C
|
|
|
NM_001999.4(FBN2):c.6881-19T>A
|
|
|
NM_001999.4(FBN2):c.6881-4C>G
|
|
|
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.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.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.6G>T (p.Gly2=)
|
|
|
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.7013-7del
|
rs1554117268
|
|
NM_001999.4(FBN2):c.705G>A (p.Thr235=)
|
|
|
NM_001999.4(FBN2):c.705G>T (p.Thr235=)
|
|
|
NM_001999.4(FBN2):c.7068C>T (p.Asn2356=)
|
rs1554117256
|
|
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.7128T>C (p.Thr2376=)
|
rs1765497836
|
|
NM_001999.4(FBN2):c.7139-13T>G
|
rs886038506
|
|
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.7170A>T (p.Val2390=)
|
|
|
NM_001999.4(FBN2):c.7173G>A (p.Leu2391=)
|
rs1463009225
|
|
NM_001999.4(FBN2):c.7176G>A (p.Gln2392=)
|
|
|
NM_001999.4(FBN2):c.7188A>G (p.Gln2396=)
|
rs1554117125
|
|
NM_001999.4(FBN2):c.7204C>T (p.Arg2402Cys)
|
|
|
NM_001999.4(FBN2):c.7260C>T (p.His2420=)
|
rs775251012
|
|
NM_001999.4(FBN2):c.7278A>G (p.Pro2426=)
|
rs773011673
|
|
NM_001999.4(FBN2):c.7288A>G (p.Thr2430Ala)
|
|
|
NM_001999.4(FBN2):c.7293C>T (p.Ala2431=)
|
rs1057521075
|
|
NM_001999.4(FBN2):c.7345+10T>C
|
|
|
NM_001999.4(FBN2):c.7345+9T>A
|
|
|
NM_001999.4(FBN2):c.7345+9T>C
|
rs1212635601
|
|
NM_001999.4(FBN2):c.7346-17G>T
|
|
|
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.738G>T (p.Ala246=)
|
|
|
NM_001999.4(FBN2):c.7392G>A (p.Gln2464=)
|
|
|
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.7440C>T (p.Tyr2480=)
|
|
|
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.7495C>A (p.Pro2499Thr)
|
|
|
NM_001999.4(FBN2):c.7512C>T (p.Tyr2504=)
|
|
|
NM_001999.4(FBN2):c.7530G>A (p.Glu2510=)
|
|
|
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.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.7578T>C (p.Asp2526=)
|
|
|
NM_001999.4(FBN2):c.7594+10G>A
|
rs1437523141
|
|
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.7595-18G>C
|
rs1554116721
|
|
NM_001999.4(FBN2):c.7611A>G (p.Gln2537=)
|
|
|
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.7658G>C (p.Gly2553Ala)
|
rs764514988
|
|
NM_001999.4(FBN2):c.7698C>A (p.His2566Gln)
|
|
|
NM_001999.4(FBN2):c.7704T>C (p.Ala2568=)
|
rs778549338
|
|
NM_001999.4(FBN2):c.7712-5G>A
|
rs766722063
|
|
NM_001999.4(FBN2):c.7712-8T>G
|
|
|
NM_001999.4(FBN2):c.774T>G (p.Pro258=)
|
|
|
NM_001999.4(FBN2):c.7758A>C (p.Gly2586=)
|
rs1765323936
|
|
NM_001999.4(FBN2):c.7771A>C (p.Thr2591Pro)
|
rs869025429
|
|
NM_001999.4(FBN2):c.7773T>C (p.Thr2591=)
|
rs1554116608
|
|
NM_001999.4(FBN2):c.7818T>C (p.Asp2606=)
|
|
|
NM_001999.4(FBN2):c.7837G>A (p.Glu2613Lys)
|
|
|
NM_001999.4(FBN2):c.7840+10T>C
|
|
|
NM_001999.4(FBN2):c.7841-14G>A
|
rs751308498
|
|
NM_001999.4(FBN2):c.7860G>A (p.Gly2620=)
|
|
|
NM_001999.4(FBN2):c.787C>A (p.Arg263=)
|
|
|
NM_001999.4(FBN2):c.78G>C (p.Thr26=)
|
rs1265112696
|
|
NM_001999.4(FBN2):c.78G>T (p.Thr26=)
|
|
|
NM_001999.4(FBN2):c.7906A>C (p.Arg2636=)
|
|
|
NM_001999.4(FBN2):c.7914C>T (p.Gly2638=)
|
|
|
NM_001999.4(FBN2):c.7938C>T (p.His2646=)
|
rs886038837
|
|
NM_001999.4(FBN2):c.795C>T (p.Phe265=)
|
|
|
NM_001999.4(FBN2):c.7977C>G (p.Ser2659=)
|
rs1057524372
|
|
NM_001999.4(FBN2):c.7A>C (p.Arg3=)
|
rs1466844222
|
|
NM_001999.4(FBN2):c.8001T>A (p.Ala2667=)
|
|
|
NM_001999.4(FBN2):c.8016C>A (p.Thr2672=)
|
|
|
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.8049G>T (p.Gly2683=)
|
rs138044126
|
|
NM_001999.4(FBN2):c.8058C>T (p.Phe2686=)
|
rs150734807
|
|
NM_001999.4(FBN2):c.8061C>T (p.Asp2687=)
|
|
|
NM_001999.4(FBN2):c.806T>C (p.Ile269Thr)
|
rs771008563
|
|
NM_001999.4(FBN2):c.8082C>A (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.809G>A (p.Arg270His)
|
rs148971572
|
|
NM_001999.4(FBN2):c.8100G>A (p.Ser2700=)
|
|
|
NM_001999.4(FBN2):c.8100G>C (p.Ser2700=)
|
rs138659121
|
|
NM_001999.4(FBN2):c.8127C>G (p.Gly2709=)
|
rs141841206
|
|
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.8164C>T (p.Pro2722Ser)
|
|
|
NM_001999.4(FBN2):c.816A>C (p.Gly272=)
|
|
|
NM_001999.4(FBN2):c.816A>G (p.Gly272=)
|
|
|
NM_001999.4(FBN2):c.8187A>G (p.Gly2729=)
|
|
|
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.8193-18T>A
|
rs1057521159
|
|
NM_001999.4(FBN2):c.8193-9T>G
|
|
|
NM_001999.4(FBN2):c.81C>A (p.Ala27=)
|
|
|
NM_001999.4(FBN2):c.8251G>A (p.Val2751Ile)
|
|
|
NM_001999.4(FBN2):c.826+18C>G
|
|
|
NM_001999.4(FBN2):c.827-10C>T
|
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NM_001999.4(FBN2):c.827-13T>G
|
|
|
NM_001999.4(FBN2):c.827-4G>A
|
|
|
NM_001999.4(FBN2):c.8270T>A (p.Leu2757Gln)
|
|
|
NM_001999.4(FBN2):c.8271G>A (p.Leu2757=)
|
|
|
NM_001999.4(FBN2):c.8313T>C (p.Ser2771=)
|
|
|
NM_001999.4(FBN2):c.8322C>T (p.Asp2774=)
|
rs1554115402
|
|
NM_001999.4(FBN2):c.8327G>A (p.Arg2776Lys)
|
|
|
NM_001999.4(FBN2):c.8331G>A (p.Gln2777=)
|
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|
NM_001999.4(FBN2):c.8349A>G (p.Glu2783=)
|
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|
NM_001999.4(FBN2):c.834T>C (p.Asp278=)
|
rs2127056960
|
|
NM_001999.4(FBN2):c.8359A>G (p.Thr2787Ala)
|
|
|
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.8365-17T>G
|
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|
NM_001999.4(FBN2):c.8365-4C>G
|
rs878854480
|
|
NM_001999.4(FBN2):c.8365-8T>A
|
|
|
NM_001999.4(FBN2):c.8365-90C>A
|
rs115772552
|
|
NM_001999.4(FBN2):c.8365-9T>A
|
|
|
NM_001999.4(FBN2):c.8379C>T (p.Ser2793=)
|
|
|
NM_001999.4(FBN2):c.837A>G (p.Glu279=)
|
rs2127056950
|
|
NM_001999.4(FBN2):c.8391C>G (p.Val2797=)
|
|
|
NM_001999.4(FBN2):c.8392G>A (p.Asp2798Asn)
|
|
|
NM_001999.4(FBN2):c.8424C>T (p.Asn2808=)
|
|
|
NM_001999.4(FBN2):c.8430C>A (p.Ser2810=)
|
|
|
NM_001999.4(FBN2):c.8451C>T (p.His2817=)
|
|
|
NM_001999.4(FBN2):c.8481C>G (p.Pro2827=)
|
rs886038981
|
|
NM_001999.4(FBN2):c.8490C>T (p.Asn2830=)
|
rs1581170322
|
|
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.8508C>T (p.Ile2836=)
|
rs1764914729
|
|
NM_001999.4(FBN2):c.8517G>C (p.Gly2839=)
|
rs1764914519
|
|
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.8543A>G (p.His2848Arg)
|
rs1291203524
|
|
NM_001999.4(FBN2):c.8544C>T (p.His2848=)
|
|
|
NM_001999.4(FBN2):c.8559C>G (p.Leu2853=)
|
|
|
NM_001999.4(FBN2):c.8559C>T (p.Leu2853=)
|
rs778576181
|
|
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.8607A>G (p.Thr2869=)
|
|
|
NM_001999.4(FBN2):c.8625C>A (p.Ile2875=)
|
|
|
NM_001999.4(FBN2):c.8639A>G (p.Lys2880Arg)
|
rs1367710207
|
|
NM_001999.4(FBN2):c.8643G>A (p.Lys2881=)
|
|
|
NM_001999.4(FBN2):c.864A>G (p.Gln288=)
|
|
|
NM_001999.4(FBN2):c.8664G>C (p.Glu2888Asp)
|
|
|
NM_001999.4(FBN2):c.8667C>T (p.Ser2889=)
|
|
|
NM_001999.4(FBN2):c.8677G>A (p.Asp2893Asn)
|
rs748874308
|
|
NM_001999.4(FBN2):c.8682C>T (p.Tyr2894=)
|
|
|
NM_001999.4(FBN2):c.8688A>G (p.Leu2896=)
|
rs1194973560
|
|
NM_001999.4(FBN2):c.8703G>A (p.Glu2901=)
|
rs1374026282
|
|
NM_001999.4(FBN2):c.8734T>C (p.Tyr2912His)
|
|
|
NM_001999.4(FBN2):c.89C>T (p.Pro30Leu)
|
|
|
NM_001999.4(FBN2):c.900A>G (p.Glu300=)
|
|
|
NM_001999.4(FBN2):c.906A>G (p.Arg302=)
|
rs1554069994
|
|
NM_001999.4(FBN2):c.918T>C (p.Gly306=)
|
|
|
NM_001999.4(FBN2):c.924A>G (p.Lys308=)
|
|
|
NM_001999.4(FBN2):c.952+11C>T
|
rs1157854895
|
|
NM_001999.4(FBN2):c.952+14C>G
|
|
|
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.953-74dup
|
rs770303611
|
|
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.973A>G (p.Ile325Val)
|
rs748879016
|
|