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_001999.4(FBN2):c.533-2432T>C
|
rs17677603
|
0.50039
|
NM_001999.4(FBN2):c.6880+17G>A
|
rs2042327
|
0.45423
|
NM_001999.4(FBN2):c.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_001999.4(FBN2):c.5675-9del
|
rs112666443
|
0.05000
|
NM_001999.4(FBN2):c.6292+12C>A
|
rs10042349
|
0.04495
|
NM_001999.4(FBN2):c.203C>T (p.Ala68Val)
|
rs62390671
|
0.03303
|
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_001999.4(FBN2):c.3015G>A (p.Leu1005=)
|
rs28763946
|
0.01862
|
NM_001999.4(FBN2):c.2778C>T (p.Ala926=)
|
rs28763948
|
0.00992
|
NM_001999.4(FBN2):c.1466-5C>T
|
rs28763952
|
0.00887
|
NM_001999.4(FBN2):c.7296G>T (p.Gln2432His)
|
rs34600572
|
0.00870
|
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_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_001999.4(FBN2):c.629-9A>G
|
rs56025995
|
0.00616
|
NM_001999.4(FBN2):c.8347G>C (p.Glu2783Gln)
|
rs76756898
|
0.00599
|
NM_001999.4(FBN2):c.3762C>T (p.Asp1254=)
|
rs2279582
|
0.00570
|
NM_001999.4(FBN2):c.1285A>G (p.Ser429Gly)
|
rs115242287
|
0.00534
|
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_001999.4(FBN2):c.5496C>T (p.Arg1832=)
|
rs35346129
|
0.00388
|
NM_001999.4(FBN2):c.6511+5G>A
|
rs200608284
|
0.00363
|
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_001999.4(FBN2):c.7181T>C (p.Ile2394Thr)
|
rs28763926
|
0.00287
|
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.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.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.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.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_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.3144C>T (p.Tyr1048=)
|
rs1801167
|
0.00102
|
NM_001999.4(FBN2):c.3351C>T (p.Asp1117=)
|
rs78484531
|
0.00102
|
NM_001999.4(FBN2):c.6655A>G (p.Ile2219Val)
|
rs140821039
|
0.00102
|
NM_001999.4(FBN2):c.4222+12A>G
|
rs79445561
|
0.00101
|
NM_001999.4(FBN2):c.3767A>G (p.Gln1256Arg)
|
rs139052603
|
0.00100
|
NM_001999.4(FBN2):c.3273T>C (p.Asn1091=)
|
rs116741030
|
0.00096
|
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_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.7841-16G>T
|
rs201231807
|
0.00063
|
NM_001999.4(FBN2):c.1749G>A (p.Gly583=)
|
rs75940000
|
0.00061
|
NM_001999.4(FBN2):c.4472-12T>A
|
rs551686237
|
0.00054
|
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.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_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.3087C>T (p.Val1029=)
|
rs777392642
|
0.00034
|
NM_001999.4(FBN2):c.4472-11A>T
|
rs528062851
|
0.00034
|
NM_001999.4(FBN2):c.6666G>A (p.Pro2222=)
|
rs192923239
|
0.00034
|
NM_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.5353+16G>A
|
rs187448568
|
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.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.3322A>C (p.Met1108Leu)
|
rs148127874
|
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.7700C>T (p.Thr2567Ile)
|
rs150672907
|
0.00017
|
NM_001999.4(FBN2):c.3235G>T (p.Ala1079Ser)
|
rs774996980
|
0.00016
|
NM_001999.4(FBN2):c.3862G>A (p.Glu1288Lys)
|
rs371512923
|
0.00016
|
NM_001999.4(FBN2):c.5602A>T (p.Ile1868Phe)
|
rs150931558
|
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.3341C>T (p.Thr1114Met)
|
rs202219940
|
0.00014
|
NM_001999.4(FBN2):c.4642G>A (p.Val1548Ile)
|
rs140313460
|
0.00014
|
NM_001999.4(FBN2):c.6064G>A (p.Ala2022Thr)
|
rs545524318
|
0.00014
|
NM_001999.4(FBN2):c.68C>G (p.Ala23Gly)
|
rs199560824
|
0.00014
|
NM_001999.4(FBN2):c.7841-17C>T
|
rs371643668
|
0.00014
|
NM_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.2990-14C>T
|
rs377500777
|
0.00012
|
NM_001999.4(FBN2):c.6077C>T (p.Ser2026Phe)
|
rs139668142
|
0.00012
|
NM_001999.4(FBN2):c.6334A>G (p.Lys2112Glu)
|
rs141707850
|
0.00012
|
NM_001999.4(FBN2):c.6964A>G (p.Ile2322Val)
|
rs756500246
|
0.00012
|
NM_001999.4(FBN2):c.7594+12G>A
|
rs184678810
|
0.00012
|
NM_001999.4(FBN2):c.8192+8G>A
|
rs184132548
|
0.00012
|
NM_001999.4(FBN2):c.1651A>G (p.Asn551Asp)
|
rs138389072
|
0.00011
|
NM_001999.4(FBN2):c.1850-14A>G
|
rs201359451
|
0.00011
|
NM_001999.4(FBN2):c.2108G>A (p.Arg703His)
|
rs567790419
|
0.00011
|
NM_001999.4(FBN2):c.2989+20G>A
|
rs374450061
|
0.00011
|
NM_001999.4(FBN2):c.4311C>T (p.Ser1437=)
|
rs138665246
|
0.00011
|
NM_001999.4(FBN2):c.6285A>G (p.Arg2095=)
|
rs28763933
|
0.00011
|
NM_001999.4(FBN2):c.7180A>G (p.Ile2394Val)
|
rs141854054
|
0.00011
|
NM_001999.4(FBN2):c.7942C>A (p.Gln2648Lys)
|
rs375316758
|
0.00011
|
NM_001999.4(FBN2):c.157G>A (p.Gly53Ser)
|
rs146807421
|
0.00010
|
NM_001999.4(FBN2):c.158G>A (p.Gly53Asp)
|
rs375093230
|
0.00010
|
NM_001999.4(FBN2):c.2249-15C>A
|
rs759195113
|
0.00010
|
NM_001999.4(FBN2):c.2717G>A (p.Arg906His)
|
rs370973542
|
0.00010
|
NM_001999.4(FBN2):c.2856G>T (p.Thr952=)
|
rs556038110
|
0.00010
|
NM_001999.4(FBN2):c.3217+13G>A
|
rs572013507
|
0.00010
|
NM_001999.4(FBN2):c.3472+17C>A
|
rs747730357
|
0.00010
|
NM_001999.4(FBN2):c.5983G>A (p.Gly1995Ser)
|
rs145588052
|
0.00010
|
NM_001999.4(FBN2):c.6681A>G (p.Thr2227=)
|
rs145681607
|
0.00010
|
NM_001999.4(FBN2):c.6833C>T (p.Thr2278Met)
|
rs2307109
|
0.00010
|
NM_001999.4(FBN2):c.8193-6A>G
|
rs371741283
|
0.00010
|
NM_001999.4(FBN2):c.8674G>T (p.Asp2892Tyr)
|
rs557212203
|
0.00010
|
NM_001999.4(FBN2):c.8691G>A (p.Gly2897=)
|
rs184109554
|
0.00010
|
NM_001999.4(FBN2):c.3013T>C (p.Leu1005=)
|
rs147633551
|
0.00009
|
NM_001999.4(FBN2):c.3296G>A (p.Arg1099His)
|
rs202050092
|
0.00009
|
NM_001999.4(FBN2):c.3655A>G (p.Met1219Val)
|
rs201288931
|
0.00009
|
NM_001999.4(FBN2):c.3742A>G (p.Ile1248Val)
|
rs144933639
|
0.00009
|
NM_001999.4(FBN2):c.4763A>T (p.Asp1588Val)
|
rs202218356
|
0.00009
|
NM_001999.4(FBN2):c.5275A>C (p.Lys1759Gln)
|
rs201113098
|
0.00009
|
NM_001999.4(FBN2):c.5549-18G>A
|
rs371995872
|
0.00009
|
NM_001999.4(FBN2):c.7497G>A (p.Pro2499=)
|
rs756747736
|
0.00009
|
NM_001999.4(FBN2):c.8239C>G (p.Leu2747Val)
|
rs145353444
|
0.00009
|
NM_001999.4(FBN2):c.8289C>T (p.Tyr2763=)
|
rs190292877
|
0.00009
|
NM_001999.4(FBN2):c.8376C>G (p.Ile2792Met)
|
rs142747169
|
0.00009
|
NM_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.2096-19G>A
|
rs369377429
|
0.00007
|
NM_001999.4(FBN2):c.2198C>G (p.Pro733Arg)
|
rs745528502
|
0.00007
|
NM_001999.4(FBN2):c.2480G>A (p.Arg827Gln)
|
rs150735582
|
0.00007
|
NM_001999.4(FBN2):c.3839C>T (p.Ser1280Leu)
|
rs200481467
|
0.00007
|
NM_001999.4(FBN2):c.3964A>G (p.Thr1322Ala)
|
rs367614052
|
0.00007
|
NM_001999.4(FBN2):c.4035G>A (p.Lys1345=)
|
rs772465221
|
0.00007
|
NM_001999.4(FBN2):c.4298G>A (p.Arg1433His)
|
rs143462011
|
0.00007
|
NM_001999.4(FBN2):c.5447C>T (p.Pro1816Leu)
|
rs149537608
|
0.00007
|
NM_001999.4(FBN2):c.5495G>A (p.Arg1832His)
|
rs140276399
|
0.00007
|
NM_001999.4(FBN2):c.6063C>T (p.Val2021=)
|
rs149380208
|
0.00007
|
NM_001999.4(FBN2):c.6512-7A>G
|
rs201462445
|
0.00007
|
NM_001999.4(FBN2):c.8085C>T (p.Asp2695=)
|
rs765452930
|
0.00007
|
NM_001999.4(FBN2):c.8351C>T (p.Pro2784Leu)
|
rs144574441
|
0.00007
|
NM_001999.4(FBN2):c.8530G>A (p.Val2844Ile)
|
rs147134796
|
0.00007
|
NM_001999.4(FBN2):c.1181G>A (p.Arg394His)
|
rs150790914
|
0.00006
|
NM_001999.4(FBN2):c.1411G>A (p.Val471Ile)
|
rs138046782
|
0.00006
|
NM_001999.4(FBN2):c.1644T>G (p.Asp548Glu)
|
rs182651973
|
0.00006
|
NM_001999.4(FBN2):c.1666T>C (p.Tyr556His)
|
rs1256710897
|
0.00006
|
NM_001999.4(FBN2):c.1682A>G (p.His561Arg)
|
rs28763951
|
0.00006
|
NM_001999.4(FBN2):c.2508G>A (p.Thr836=)
|
rs372872626
|
0.00006
|
NM_001999.4(FBN2):c.2978G>A (p.Arg993His)
|
rs774483323
|
0.00006
|
NM_001999.4(FBN2):c.3045C>T (p.Pro1015=)
|
rs371640952
|
0.00006
|
NM_001999.4(FBN2):c.3405G>A (p.Pro1135=)
|
rs185809581
|
0.00006
|
NM_001999.4(FBN2):c.3883G>A (p.Asp1295Asn)
|
rs759131544
|
0.00006
|
NM_001999.4(FBN2):c.3908C>T (p.Pro1303Leu)
|
rs144505094
|
0.00006
|
NM_001999.4(FBN2):c.4757G>C (p.Arg1586Pro)
|
rs143195229
|
0.00006
|
NM_001999.4(FBN2):c.4951A>G (p.Ile1651Val)
|
rs765442038
|
0.00006
|
NM_001999.4(FBN2):c.5422+6T>G
|
rs1000499022
|
0.00006
|
NM_001999.4(FBN2):c.5423-8C>A
|
rs1195073601
|
0.00006
|
NM_001999.4(FBN2):c.5800+5G>A
|
rs375487064
|
0.00006
|
NM_001999.4(FBN2):c.5853C>T (p.Thr1951=)
|
rs377133710
|
0.00006
|
NM_001999.4(FBN2):c.5855T>C (p.Val1952Ala)
|
rs372879535
|
0.00006
|
NM_001999.4(FBN2):c.6433A>G (p.Lys2145Glu)
|
rs766271753
|
0.00006
|
NM_001999.4(FBN2):c.6573C>T (p.Asp2191=)
|
rs374456115
|
0.00006
|
NM_001999.4(FBN2):c.6982G>T (p.Ala2328Ser)
|
rs199910288
|
0.00006
|
NM_001999.4(FBN2):c.7583A>G (p.Lys2528Arg)
|
rs749623269
|
0.00006
|
NM_001999.4(FBN2):c.7690C>G (p.Gln2564Glu)
|
rs373970388
|
0.00006
|
NM_001999.4(FBN2):c.7808T>C (p.Phe2603Ser)
|
rs374507398
|
0.00006
|
NM_001999.4(FBN2):c.803A>G (p.Asn268Ser)
|
rs760817242
|
0.00006
|
NM_001999.4(FBN2):c.8058C>A (p.Phe2686Leu)
|
rs150734807
|
0.00006
|
NM_001999.4(FBN2):c.8086G>A (p.Val2696Met)
|
rs373994051
|
0.00006
|
NM_001999.4(FBN2):c.8520C>T (p.Asn2840=)
|
rs139098335
|
0.00006
|
NM_001999.4(FBN2):c.1078+9C>T
|
rs371692018
|
0.00005
|
NM_001999.4(FBN2):c.1139C>T (p.Pro380Leu)
|
rs139189178
|
0.00005
|
NM_001999.4(FBN2):c.1720A>G (p.Ile574Val)
|
rs768073096
|
0.00005
|
NM_001999.4(FBN2):c.1885A>G (p.Asn629Asp)
|
rs863223554
|
0.00005
|
NM_001999.4(FBN2):c.3149C>T (p.Thr1050Met)
|
rs150506063
|
0.00005
|
NM_001999.4(FBN2):c.3249G>T (p.Met1083Ile)
|
rs146143173
|
0.00005
|
NM_001999.4(FBN2):c.3414T>C (p.Phe1138=)
|
rs769005512
|
0.00005
|
NM_001999.4(FBN2):c.3584G>A (p.Arg1195His)
|
rs751600209
|
0.00005
|
NM_001999.4(FBN2):c.3690A>G (p.Gly1230=)
|
rs774807410
|
0.00005
|
NM_001999.4(FBN2):c.4102G>A (p.Val1368Met)
|
rs762139261
|
0.00005
|
NM_001999.4(FBN2):c.4328A>T (p.Asp1443Val)
|
rs751400994
|
0.00005
|
NM_001999.4(FBN2):c.4773G>T (p.Leu1591=)
|
rs753387547
|
0.00005
|
NM_001999.4(FBN2):c.5494C>T (p.Arg1832Cys)
|
rs778519094
|
0.00005
|
NM_001999.4(FBN2):c.5674+18T>G
|
rs199749609
|
0.00005
|
NM_001999.4(FBN2):c.6138G>T (p.Gly2046=)
|
rs150627604
|
0.00005
|
NM_001999.4(FBN2):c.6297T>C (p.Thr2099=)
|
rs770778839
|
0.00005
|
NM_001999.4(FBN2):c.1078+12A>C
|
rs769211487
|
0.00004
|
NM_001999.4(FBN2):c.1103C>T (p.Ser368Leu)
|
rs562268545
|
0.00004
|
NM_001999.4(FBN2):c.1140G>A (p.Pro380=)
|
rs532059159
|
0.00004
|
NM_001999.4(FBN2):c.1195G>A (p.Gly399Arg)
|
rs142228933
|
0.00004
|
NM_001999.4(FBN2):c.1313G>A (p.Gly438Glu)
|
rs751545674
|
0.00004
|
NM_001999.4(FBN2):c.1400T>C (p.Phe467Ser)
|
rs779849582
|
0.00004
|
NM_001999.4(FBN2):c.1968T>C (p.Cys656=)
|
rs750685055
|
0.00004
|
NM_001999.4(FBN2):c.202G>T (p.Ala68Ser)
|
rs767317022
|
0.00004
|
NM_001999.4(FBN2):c.2358C>T (p.Asn786=)
|
rs371981691
|
0.00004
|
NM_001999.4(FBN2):c.2363G>A (p.Arg788His)
|
rs368116715
|
0.00004
|
NM_001999.4(FBN2):c.2555-6T>C
|
rs376507178
|
0.00004
|
NM_001999.4(FBN2):c.2722G>A (p.Glu908Lys)
|
rs1204772554
|
0.00004
|
NM_001999.4(FBN2):c.2812+7G>A
|
rs373320057
|
0.00004
|
NM_001999.4(FBN2):c.3342G>A (p.Thr1114=)
|
rs532983875
|
0.00004
|
NM_001999.4(FBN2):c.3393C>T (p.Cys1131=)
|
rs760695805
|
0.00004
|
NM_001999.4(FBN2):c.3511G>A (p.Gly1171Ser)
|
rs775844150
|
0.00004
|
NM_001999.4(FBN2):c.3602T>C (p.Ile1201Thr)
|
rs755127278
|
0.00004
|
NM_001999.4(FBN2):c.3701C>T (p.Thr1234Met)
|
rs368105987
|
0.00004
|
NM_001999.4(FBN2):c.377G>A (p.Arg126His)
|
rs528614556
|
0.00004
|
NM_001999.4(FBN2):c.3793G>A (p.Glu1265Lys)
|
rs776031352
|
0.00004
|
NM_001999.4(FBN2):c.3805A>G (p.Ser1269Gly)
|
rs765649978
|
0.00004
|
NM_001999.4(FBN2):c.3920G>A (p.Arg1307His)
|
rs139428175
|
0.00004
|
NM_001999.4(FBN2):c.4222+10C>A
|
rs376700480
|
0.00004
|
NM_001999.4(FBN2):c.4259G>A (p.Ser1420Asn)
|
rs751406554
|
0.00004
|
NM_001999.4(FBN2):c.4286C>T (p.Pro1429Leu)
|
rs771467729
|
0.00004
|
NM_001999.4(FBN2):c.4297C>T (p.Arg1433Cys)
|
rs374493286
|
0.00004
|
NM_001999.4(FBN2):c.4418G>A (p.Arg1473His)
|
rs140812463
|
0.00004
|
NM_001999.4(FBN2):c.4724G>A (p.Arg1575His)
|
rs776040052
|
0.00004
|
NM_001999.4(FBN2):c.5200+11A>C
|
rs863223545
|
0.00004
|
NM_001999.4(FBN2):c.5681A>G (p.Asn1894Ser)
|
rs750837082
|
0.00004
|
NM_001999.4(FBN2):c.5847A>G (p.Lys1949=)
|
rs751378266
|
0.00004
|
NM_001999.4(FBN2):c.6004A>G (p.Asn2002Asp)
|
rs773305589
|
0.00004
|
NM_001999.4(FBN2):c.6073G>A (p.Gly2025Ser)
|
rs772994944
|
0.00004
|
NM_001999.4(FBN2):c.6153C>T (p.Ser2051=)
|
rs888075207
|
0.00004
|
NM_001999.4(FBN2):c.6293-8T>A
|
rs375682913
|
0.00004
|
NM_001999.4(FBN2):c.645G>A (p.Pro215=)
|
rs764473594
|
0.00004
|
NM_001999.4(FBN2):c.6539G>A (p.Gly2180Asp)
|
rs537628586
|
0.00004
|
NM_001999.4(FBN2):c.6556C>G (p.Gln2186Glu)
|
rs1415043313
|
0.00004
|
NM_001999.4(FBN2):c.6628C>T (p.Arg2210Cys)
|
rs200158069
|
0.00004
|
NM_001999.4(FBN2):c.704C>T (p.Thr235Met)
|
rs367767903
|
0.00004
|
NM_001999.4(FBN2):c.7339G>A (p.Gly2447Arg)
|
rs764998447
|
0.00004
|
NM_001999.4(FBN2):c.7719C>T (p.Asn2573=)
|
rs746265117
|
0.00004
|
NM_001999.4(FBN2):c.7878C>T (p.His2626=)
|
rs587780943
|
0.00004
|
NM_001999.4(FBN2):c.8168C>T (p.Pro2723Leu)
|
rs746473847
|
0.00004
|
NM_001999.4(FBN2):c.8193-13T>C
|
rs376023293
|
0.00004
|
NM_001999.4(FBN2):c.8193-19C>T
|
rs771472324
|
0.00004
|
NM_001999.4(FBN2):c.8230T>G (p.Tyr2744Asp)
|
rs752138290
|
0.00004
|
NM_001999.4(FBN2):c.8406C>T (p.Pro2802=)
|
rs764836656
|
0.00004
|
NM_001999.4(FBN2):c.8444A>C (p.Lys2815Thr)
|
rs757028268
|
0.00004
|
NM_001999.4(FBN2):c.8678A>T (p.Asp2893Val)
|
rs863223615
|
0.00004
|
NM_001999.4(FBN2):c.968G>A (p.Ser323Asn)
|
rs747748647
|
0.00004
|
NM_001999.4(FBN2):c.1091G>A (p.Gly364Asp)
|
rs762615993
|
0.00003
|
NM_001999.4(FBN2):c.1410C>A (p.Gly470=)
|
rs750103822
|
0.00003
|
NM_001999.4(FBN2):c.1423G>A (p.Gly475Ser)
|
rs200440156
|
0.00003
|
NM_001999.4(FBN2):c.1424G>T (p.Gly475Val)
|
rs56312356
|
0.00003
|
NM_001999.4(FBN2):c.1526G>T (p.Arg509Leu)
|
rs199587570
|
0.00003
|
NM_001999.4(FBN2):c.186G>A (p.Glu62=)
|
rs759839753
|
0.00003
|
NM_001999.4(FBN2):c.195G>A (p.Glu65=)
|
rs750055830
|
0.00003
|
NM_001999.4(FBN2):c.2214A>T (p.Gly738=)
|
rs201548788
|
0.00003
|
NM_001999.4(FBN2):c.2249-12T>C
|
rs776314725
|
0.00003
|
NM_001999.4(FBN2):c.2258A>G (p.His753Arg)
|
rs777266350
|
0.00003
|
NM_001999.4(FBN2):c.244G>A (p.Val82Met)
|
rs550387143
|
0.00003
|
NM_001999.4(FBN2):c.2634G>A (p.Ser878=)
|
rs143905167
|
0.00003
|
NM_001999.4(FBN2):c.2674+10A>G
|
rs371734006
|
0.00003
|
NM_001999.4(FBN2):c.2943G>T (p.Glu981Asp)
|
rs142249689
|
0.00003
|
NM_001999.4(FBN2):c.3061C>T (p.Arg1021Cys)
|
rs541842635
|
0.00003
|
NM_001999.4(FBN2):c.3093G>A (p.Ala1031=)
|
rs528529593
|
0.00003
|
NM_001999.4(FBN2):c.3279C>T (p.Ile1093=)
|
rs142809999
|
0.00003
|
NM_001999.4(FBN2):c.3670C>T (p.Gln1224Ter)
|
rs863223569
|
0.00003
|
NM_001999.4(FBN2):c.3702G>A (p.Thr1234=)
|
rs374833053
|
0.00003
|
NM_001999.4(FBN2):c.3709C>T (p.Arg1237Cys)
|
rs746570981
|
0.00003
|
NM_001999.4(FBN2):c.3710G>T (p.Arg1237Leu)
|
rs142185964
|
0.00003
|
NM_001999.4(FBN2):c.3820C>T (p.Leu1274=)
|
rs192602314
|
0.00003
|
NM_001999.4(FBN2):c.3840G>A (p.Ser1280=)
|
rs372613935
|
0.00003
|
NM_001999.4(FBN2):c.3980A>G (p.Asn1327Ser)
|
rs762567430
|
0.00003
|
NM_001999.4(FBN2):c.4103T>C (p.Val1368Ala)
|
rs28763942
|
0.00003
|
NM_001999.4(FBN2):c.4290C>T (p.Gly1430=)
|
rs773650336
|
0.00003
|
NM_001999.4(FBN2):c.4495A>C (p.Asn1499His)
|
rs771260299
|
0.00003
|
NM_001999.4(FBN2):c.4551C>T (p.Cys1517=)
|
rs144018137
|
0.00003
|
NM_001999.4(FBN2):c.4785C>T (p.Thr1595=)
|
rs756084999
|
0.00003
|
NM_001999.4(FBN2):c.4914C>T (p.Gly1638=)
|
rs1482008222
|
0.00003
|
NM_001999.4(FBN2):c.49G>A (p.Gly17Ser)
|
rs1085307788
|
0.00003
|
NM_001999.4(FBN2):c.5191A>G (p.Asn1731Asp)
|
rs1476723489
|
0.00003
|
NM_001999.4(FBN2):c.5353+11G>A
|
rs572393472
|
0.00003
|
NM_001999.4(FBN2):c.5548+20T>C
|
rs372334617
|
0.00003
|
NM_001999.4(FBN2):c.5567A>G (p.Asn1856Ser)
|
rs780989245
|
0.00003
|
NM_001999.4(FBN2):c.5638G>A (p.Ala1880Thr)
|
rs546148828
|
0.00003
|
NM_001999.4(FBN2):c.5814C>T (p.Cys1938=)
|
rs753556200
|
0.00003
|
NM_001999.4(FBN2):c.5966G>A (p.Arg1989His)
|
rs189964478
|
0.00003
|
NM_001999.4(FBN2):c.6007G>A (p.Glu2003Lys)
|
rs995323393
|
0.00003
|
NM_001999.4(FBN2):c.6057G>A (p.Glu2019=)
|
rs752114619
|
0.00003
|
NM_001999.4(FBN2):c.629-19T>C
|
rs374428361
|
0.00003
|
NM_001999.4(FBN2):c.6411G>A (p.Gly2137=)
|
rs552637321
|
0.00003
|
NM_001999.4(FBN2):c.6439G>A (p.Asp2147Asn)
|
rs370650204
|
0.00003
|
NM_001999.4(FBN2):c.6505C>T (p.Arg2169Cys)
|
rs1450302477
|
0.00003
|
NM_001999.4(FBN2):c.6909C>T (p.His2303=)
|
rs762440824
|
0.00003
|
NM_001999.4(FBN2):c.6986G>A (p.Arg2329Gln)
|
rs370804151
|
0.00003
|
NM_001999.4(FBN2):c.7338T>C (p.Asp2446=)
|
rs751824761
|
0.00003
|
NM_001999.4(FBN2):c.733C>T (p.Arg245Trp)
|
rs146941428
|
0.00003
|
NM_001999.4(FBN2):c.7477G>A (p.Asp2493Asn)
|
rs779483120
|
0.00003
|
NM_001999.4(FBN2):c.7525A>G (p.Thr2509Ala)
|
rs752627315
|
0.00003
|
NM_001999.4(FBN2):c.7587A>G (p.Thr2529=)
|
rs145809024
|
0.00003
|
NM_001999.4(FBN2):c.7756G>A (p.Gly2586Arg)
|
rs747305733
|
0.00003
|
NM_001999.4(FBN2):c.8046G>T (p.Ser2682=)
|
rs771507975
|
0.00003
|
NM_001999.4(FBN2):c.8112C>T (p.Asn2704=)
|
rs370851605
|
0.00003
|
NM_001999.4(FBN2):c.8192+7C>T
|
rs376135657
|
0.00003
|
NM_001999.4(FBN2):c.81C>T (p.Ala27=)
|
rs746484599
|
0.00003
|
NM_001999.4(FBN2):c.8253C>T (p.Val2751=)
|
rs140631421
|
0.00003
|
NM_001999.4(FBN2):c.8305G>A (p.Gly2769Ser)
|
rs372206279
|
0.00003
|
NM_001999.4(FBN2):c.8332A>C (p.Lys2778Gln)
|
rs371715068
|
0.00003
|
NM_001999.4(FBN2):c.8469C>T (p.Pro2823=)
|
rs371397121
|
0.00003
|
NM_001999.4(FBN2):c.8596G>A (p.Gly2866Ser)
|
rs752201545
|
0.00003
|
NM_001999.4(FBN2):c.8644G>C (p.Glu2882Gln)
|
rs765693576
|
0.00003
|
NM_001999.4(FBN2):c.8701G>A (p.Glu2901Lys)
|
rs781069799
|
0.00003
|
NM_001999.4(FBN2):c.93G>T (p.Gln31His)
|
rs371491169
|
0.00003
|
NM_001999.4(FBN2):c.1058C>T (p.Thr353Ile)
|
rs1204127908
|
0.00002
|
NM_001999.4(FBN2):c.1079-10A>G
|
rs766920012
|
0.00002
|
NM_001999.4(FBN2):c.1093A>G (p.Met365Val)
|
rs1401325502
|
0.00002
|
NM_001999.4(FBN2):c.1194C>T (p.Ile398=)
|
rs766004910
|
0.00002
|
NM_001999.4(FBN2):c.1238A>G (p.Tyr413Cys)
|
rs576123258
|
0.00002
|
NM_001999.4(FBN2):c.1253T>C (p.Met418Thr)
|
rs769840338
|
0.00002
|
NM_001999.4(FBN2):c.125C>T (p.Pro42Leu)
|
rs773011327
|
0.00002
|
NM_001999.4(FBN2):c.1333A>G (p.Ser445Gly)
|
rs143515269
|
0.00002
|
NM_001999.4(FBN2):c.1365G>T (p.Gly455=)
|
rs794726987
|
0.00002
|
NM_001999.4(FBN2):c.1410C>T (p.Gly470=)
|
rs750103822
|
0.00002
|
NM_001999.4(FBN2):c.1412T>C (p.Val471Ala)
|
rs928205576
|
0.00002
|
NM_001999.4(FBN2):c.1422C>T (p.Ala474=)
|
rs764073494
|
0.00002
|
NM_001999.4(FBN2):c.1434C>T (p.Ala478=)
|
rs755786214
|
0.00002
|
NM_001999.4(FBN2):c.150T>C (p.Ala50=)
|
rs543546489
|
0.00002
|
NM_001999.4(FBN2):c.1553G>A (p.Arg518Gln)
|
rs748051713
|
0.00002
|
NM_001999.4(FBN2):c.1685C>T (p.Ala562Val)
|
rs886059902
|
0.00002
|
NM_001999.4(FBN2):c.1734G>C (p.Glu578Asp)
|
rs371046485
|
0.00002
|
NM_001999.4(FBN2):c.1849+8A>G
|
rs747219934
|
0.00002
|
NM_001999.4(FBN2):c.1897A>G (p.Ile633Val)
|
rs748419325
|
0.00002
|
NM_001999.4(FBN2):c.1911C>G (p.Gly637=)
|
rs537558351
|
0.00002
|
NM_001999.4(FBN2):c.1961G>A (p.Arg654His)
|
rs780589159
|
0.00002
|
NM_001999.4(FBN2):c.1973-20T>C
|
rs774598343
|
0.00002
|
NM_001999.4(FBN2):c.1990A>T (p.Thr664Ser)
|
rs746408145
|
0.00002
|
NM_001999.4(FBN2):c.2036C>T (p.Ser679Phe)
|
rs760483684
|
0.00002
|
NM_001999.4(FBN2):c.2219C>G (p.Pro740Arg)
|
rs1204171410
|
0.00002
|
NM_001999.4(FBN2):c.2532G>A (p.Arg844=)
|
rs369638207
|
0.00002
|
NM_001999.4(FBN2):c.255-15G>A
|
rs587780942
|
0.00002
|
NM_001999.4(FBN2):c.2620A>C (p.Asn874His)
|
rs1297639505
|
0.00002
|
NM_001999.4(FBN2):c.2638G>A (p.Gly880Ser)
|
rs555682061
|
0.00002
|
NM_001999.4(FBN2):c.2772C>T (p.Leu924=)
|
rs773453872
|
0.00002
|
NM_001999.4(FBN2):c.2802G>A (p.Arg934=)
|
rs140500093
|
0.00002
|
NM_001999.4(FBN2):c.2811A>G (p.Leu937=)
|
rs1751336276
|
0.00002
|
NM_001999.4(FBN2):c.2901A>G (p.Pro967=)
|
rs185991527
|
0.00002
|
NM_001999.4(FBN2):c.2902A>G (p.Asn968Asp)
|
rs774248421
|
0.00002
|
NM_001999.4(FBN2):c.2941G>A (p.Glu981Lys)
|
rs758694112
|
0.00002
|
NM_001999.4(FBN2):c.2990-8C>T
|
rs370825177
|
0.00002
|
NM_001999.4(FBN2):c.3041A>C (p.His1014Pro)
|
rs551801199
|
0.00002
|
NM_001999.4(FBN2):c.3092C>T (p.Ala1031Val)
|
rs754884110
|
0.00002
|
NM_001999.4(FBN2):c.3150G>A (p.Thr1050=)
|
rs201631085
|
0.00002
|
NM_001999.4(FBN2):c.3349G>A (p.Asp1117Asn)
|
rs537477883
|
0.00002
|
NM_001999.4(FBN2):c.3404C>T (p.Pro1135Leu)
|
rs772041342
|
0.00002
|
NM_001999.4(FBN2):c.3432A>G (p.Glu1144=)
|
rs757682009
|
0.00002
|
NM_001999.4(FBN2):c.3442A>G (p.Ser1148Gly)
|
rs764809572
|
0.00002
|
NM_001999.4(FBN2):c.3464A>G (p.Asn1155Ser)
|
rs150224718
|
0.00002
|
NM_001999.4(FBN2):c.362A>G (p.Asp121Gly)
|
rs770483769
|
0.00002
|
NM_001999.4(FBN2):c.3957C>G (p.Asp1319Glu)
|
rs769665538
|
0.00002
|
NM_001999.4(FBN2):c.3993A>G (p.Leu1331=)
|
rs141505866
|
0.00002
|
NM_001999.4(FBN2):c.4009A>G (p.Met1337Val)
|
rs776567929
|
0.00002
|
NM_001999.4(FBN2):c.404G>A (p.Gly135Glu)
|
rs778566871
|
0.00002
|
NM_001999.4(FBN2):c.4099+8T>C
|
rs765204163
|
0.00002
|
NM_001999.4(FBN2):c.4489T>G (p.Phe1497Val)
|
rs150986564
|
0.00002
|
NM_001999.4(FBN2):c.4497C>T (p.Asn1499=)
|
rs368341114
|
0.00002
|
NM_001999.4(FBN2):c.4779C>T (p.Cys1593=)
|
rs780191346
|
0.00002
|
NM_001999.4(FBN2):c.4801G>A (p.Val1601Ile)
|
rs762108847
|
0.00002
|
NM_001999.4(FBN2):c.4962C>T (p.Cys1654=)
|
rs753935960
|
0.00002
|
NM_001999.4(FBN2):c.5045A>C (p.Tyr1682Ser)
|
rs769474473
|
0.00002
|
NM_001999.4(FBN2):c.5097T>A (p.His1699Gln)
|
rs757807339
|
0.00002
|
NM_001999.4(FBN2):c.5126A>G (p.Tyr1709Cys)
|
rs759117573
|
0.00002
|
NM_001999.4(FBN2):c.533-6A>G
|
rs56400997
|
0.00002
|
NM_001999.4(FBN2):c.5551A>G (p.Ile1851Val)
|
rs779901706
|
0.00002
|
NM_001999.4(FBN2):c.5574T>C (p.Asp1858=)
|
rs757483263
|
0.00002
|
NM_001999.4(FBN2):c.5678G>A (p.Arg1893His)
|
rs368384428
|
0.00002
|
NM_001999.4(FBN2):c.5703C>T (p.Asn1901=)
|
rs746592808
|
0.00002
|
NM_001999.4(FBN2):c.5787G>A (p.Gln1929=)
|
rs746307443
|
0.00002
|
NM_001999.4(FBN2):c.5819G>A (p.Arg1940Gln)
|
rs749907917
|
0.00002
|
NM_001999.4(FBN2):c.5854G>A (p.Val1952Ile)
|
rs763393398
|
0.00002
|
NM_001999.4(FBN2):c.5941T>A (p.Phe1981Ile)
|
rs527609978
|
0.00002
|
NM_001999.4(FBN2):c.6250C>T (p.Pro2084Ser)
|
rs868031420
|
0.00002
|
NM_001999.4(FBN2):c.629-6T>C
|
rs757696693
|
0.00002
|
NM_001999.4(FBN2):c.6329A>G (p.Asn2110Ser)
|
rs1016100479
|
0.00002
|
NM_001999.4(FBN2):c.6490A>G (p.Ser2164Gly)
|
rs763160605
|
0.00002
|
NM_001999.4(FBN2):c.672G>T (p.Met224Ile)
|
rs371292311
|
0.00002
|
NM_001999.4(FBN2):c.6881-5T>G
|
rs772186151
|
0.00002
|
NM_001999.4(FBN2):c.6910G>A (p.Asp2304Asn)
|
rs368802769
|
0.00002
|
NM_001999.4(FBN2):c.6973C>T (p.Pro2325Ser)
|
rs751231315
|
0.00002
|
NM_001999.4(FBN2):c.6984C>T (p.Ala2328=)
|
rs942158485
|
0.00002
|
NM_001999.4(FBN2):c.6989G>A (p.Arg2330Lys)
|
rs886038992
|
0.00002
|
NM_001999.4(FBN2):c.6994G>A (p.Asp2332Asn)
|
rs886059894
|
0.00002
|
NM_001999.4(FBN2):c.69G>T (p.Ala23=)
|
rs774856011
|
0.00002
|
NM_001999.4(FBN2):c.6G>C (p.Gly2=)
|
rs746567292
|
0.00002
|
NM_001999.4(FBN2):c.7033A>G (p.Lys2345Glu)
|
rs1464960068
|
0.00002
|
NM_001999.4(FBN2):c.7137T>G (p.Leu2379=)
|
rs765676702
|
0.00002
|
NM_001999.4(FBN2):c.7138+10C>T
|
rs1187342807
|
0.00002
|
NM_001999.4(FBN2):c.7213G>A (p.Val2405Ile)
|
rs753865904
|
0.00002
|
NM_001999.4(FBN2):c.7247G>A (p.Arg2416Gln)
|
rs755437836
|
0.00002
|
NM_001999.4(FBN2):c.7389T>A (p.Gly2463=)
|
rs749843181
|
0.00002
|
NM_001999.4(FBN2):c.7400A>G (p.Asn2467Ser)
|
rs562508529
|
0.00002
|
NM_001999.4(FBN2):c.7496C>T (p.Pro2499Leu)
|
rs199583859
|
0.00002
|
NM_001999.4(FBN2):c.7511A>G (p.Tyr2504Cys)
|
rs764032053
|
0.00002
|
NM_001999.4(FBN2):c.7595-13T>C
|
rs747620496
|
0.00002
|
NM_001999.4(FBN2):c.7660T>G (p.Phe2554Val)
|
rs775848753
|
0.00002
|
NM_001999.4(FBN2):c.7712-11T>A
|
rs776926809
|
0.00002
|
NM_001999.4(FBN2):c.7780A>G (p.Ser2594Gly)
|
rs1430209734
|
0.00002
|
NM_001999.4(FBN2):c.7960+13T>G
|
rs1023942727
|
0.00002
|
NM_001999.4(FBN2):c.7961-10G>A
|
rs752746367
|
0.00002
|
NM_001999.4(FBN2):c.8019G>C (p.Leu2673=)
|
rs144013739
|
0.00002
|
NM_001999.4(FBN2):c.811A>C (p.Thr271Pro)
|
rs201988564
|
0.00002
|
NM_001999.4(FBN2):c.8207G>A (p.Gly2736Glu)
|
rs149180427
|
0.00002
|
NM_001999.4(FBN2):c.8497C>T (p.Arg2833Cys)
|
rs863223592
|
0.00002
|
NM_001999.4(FBN2):c.8498G>A (p.Arg2833His)
|
rs753753954
|
0.00002
|
NM_001999.4(FBN2):c.8573C>T (p.Thr2858Met)
|
rs754475064
|
0.00002
|
NM_001999.4(FBN2):c.891C>A (p.Gly297=)
|
rs539258943
|
0.00002
|
NM_001999.4(FBN2):c.1011C>T (p.Thr337=)
|
rs781086796
|
0.00001
|
NM_001999.4(FBN2):c.1061A>G (p.Asp354Gly)
|
rs761066631
|
0.00001
|
NM_001999.4(FBN2):c.1070G>A (p.Arg357Gln)
|
rs773969876
|
0.00001
|
NM_001999.4(FBN2):c.1079-14T>G
|
rs754310681
|
0.00001
|
NM_001999.4(FBN2):c.1120C>T (p.Arg374Cys)
|
rs759013590
|
0.00001
|
NM_001999.4(FBN2):c.1143G>T (p.Gly381=)
|
rs749428195
|
0.00001
|
NM_001999.4(FBN2):c.1151C>T (p.Thr384Met)
|
rs371826887
|
0.00001
|
NM_001999.4(FBN2):c.1157T>C (p.Met386Thr)
|
rs750949734
|
0.00001
|
NM_001999.4(FBN2):c.115C>G (p.Arg39Gly)
|
rs763202121
|
0.00001
|
NM_001999.4(FBN2):c.1240C>T (p.Arg414Cys)
|
rs1382726763
|
0.00001
|
NM_001999.4(FBN2):c.1260A>C (p.Gly420=)
|
rs766241911
|
0.00001
|
NM_001999.4(FBN2):c.126G>A (p.Pro42=)
|
rs771657289
|
0.00001
|
NM_001999.4(FBN2):c.1286G>T (p.Ser429Ile)
|
rs749969520
|
0.00001
|
NM_001999.4(FBN2):c.1336G>A (p.Gly446Ser)
|
rs1173562709
|
0.00001
|
NM_001999.4(FBN2):c.1338C>G (p.Gly446=)
|
rs1060504933
|
0.00001
|
NM_001999.4(FBN2):c.1391G>A (p.Gly464Asp)
|
rs748584140
|
0.00001
|
NM_001999.4(FBN2):c.1418G>A (p.Gly473Glu)
|
rs376096770
|
0.00001
|
NM_001999.4(FBN2):c.1431G>A (p.Gly477=)
|
rs759633050
|
0.00001
|
NM_001999.4(FBN2):c.1480A>T (p.Thr494Ser)
|
rs200850552
|
0.00001
|
NM_001999.4(FBN2):c.14G>A (p.Arg5Gln)
|
rs1194684025
|
0.00001
|
NM_001999.4(FBN2):c.1502A>C (p.His501Pro)
|
rs773361111
|
0.00001
|
NM_001999.4(FBN2):c.1571G>T (p.Gly524Val)
|
rs753734866
|
0.00001
|
NM_001999.4(FBN2):c.1603+7T>C
|
rs1477450908
|
0.00001
|
NM_001999.4(FBN2):c.1616G>A (p.Cys539Tyr)
|
rs1456682417
|
0.00001
|
NM_001999.4(FBN2):c.1671T>C (p.Tyr557=)
|
rs1487989552
|
0.00001
|
NM_001999.4(FBN2):c.1716A>G (p.Ala572=)
|
rs771782180
|
0.00001
|
NM_001999.4(FBN2):c.1724-6T>C
|
rs1259657269
|
0.00001
|
NM_001999.4(FBN2):c.1724-7T>G
|
rs1490528227
|
0.00001
|
NM_001999.4(FBN2):c.1765G>A (p.Gly589Ser)
|
rs1057523294
|
0.00001
|
NM_001999.4(FBN2):c.1774G>T (p.Val592Leu)
|
rs762427107
|
0.00001
|
NM_001999.4(FBN2):c.1776G>A (p.Val592=)
|
rs775492838
|
0.00001
|
NM_001999.4(FBN2):c.1812C>T (p.Ala604=)
|
rs745811885
|
0.00001
|
NM_001999.4(FBN2):c.1813G>A (p.Gly605Ser)
|
rs863223553
|
0.00001
|
NM_001999.4(FBN2):c.1842C>T (p.Asn614=)
|
rs968593645
|
0.00001
|
NM_001999.4(FBN2):c.1866A>G (p.Thr622=)
|
rs1060504934
|
0.00001
|
NM_001999.4(FBN2):c.1884G>A (p.Leu628=)
|
rs1237327921
|
0.00001
|
NM_001999.4(FBN2):c.1902T>C (p.Asn634=)
|
rs553052214
|
0.00001
|
NM_001999.4(FBN2):c.1903G>A (p.Glu635Lys)
|
rs138963610
|
0.00001
|
NM_001999.4(FBN2):c.2013G>A (p.Gly671=)
|
rs778762668
|
0.00001
|
NM_001999.4(FBN2):c.2041C>T (p.Arg681Cys)
|
rs750406193
|
0.00001
|
NM_001999.4(FBN2):c.2042G>A (p.Arg681His)
|
rs548605398
|
0.00001
|
NM_001999.4(FBN2):c.2043C>T (p.Arg681=)
|
rs1476851135
|
0.00001
|
NM_001999.4(FBN2):c.2083C>T (p.Arg695Cys)
|
rs747447916
|
0.00001
|
NM_001999.4(FBN2):c.2084G>A (p.Arg695His)
|
rs143722436
|
0.00001
|
NM_001999.4(FBN2):c.2096-13del
|
rs746826953
|
0.00001
|
NM_001999.4(FBN2):c.2099C>T (p.Thr700Ile)
|
rs773667668
|
0.00001
|
NM_001999.4(FBN2):c.2160C>T (p.Pro720=)
|
rs889188442
|
0.00001
|
NM_001999.4(FBN2):c.2202C>T (p.Asp734=)
|
rs1057470455
|
0.00001
|
NM_001999.4(FBN2):c.220G>A (p.Val74Ile)
|
rs779812100
|
0.00001
|
NM_001999.4(FBN2):c.2259C>T (p.His753=)
|
rs1751768248
|
0.00001
|
NM_001999.4(FBN2):c.2271T>C (p.Ser757=)
|
rs1338036259
|
0.00001
|
NM_001999.4(FBN2):c.2283T>C (p.Gly761=)
|
rs1235214641
|
0.00001
|
NM_001999.4(FBN2):c.2294A>G (p.Asp765Gly)
|
rs1485036763
|
0.00001
|
NM_001999.4(FBN2):c.230G>T (p.Arg77Leu)
|
rs889066564
|
0.00001
|
NM_001999.4(FBN2):c.2375G>A (p.Arg792His)
|
rs374031658
|
0.00001
|
NM_001999.4(FBN2):c.2428+9T>C
|
rs368374358
|
0.00001
|
NM_001999.4(FBN2):c.2429-11G>A
|
rs201849584
|
0.00001
|
NM_001999.4(FBN2):c.2487G>T (p.Thr829=)
|
rs779455710
|
0.00001
|
NM_001999.4(FBN2):c.2489C>T (p.Pro830Leu)
|
rs547769591
|
0.00001
|
NM_001999.4(FBN2):c.2511C>T (p.Cys837=)
|
rs756813212
|
0.00001
|
NM_001999.4(FBN2):c.2522A>G (p.Tyr841Cys)
|
rs762606715
|
0.00001
|
NM_001999.4(FBN2):c.2554+18C>T
|
rs778973357
|
0.00001
|
NM_001999.4(FBN2):c.2554+19G>A
|
rs199897237
|
0.00001
|
NM_001999.4(FBN2):c.2565A>C (p.Glu855Asp)
|
rs1751527556
|
0.00001
|
NM_001999.4(FBN2):c.257C>G (p.Pro86Arg)
|
rs749819006
|
0.00001
|
NM_001999.4(FBN2):c.258C>T (p.Pro86=)
|
rs780509984
|
0.00001
|
NM_001999.4(FBN2):c.2661A>G (p.Gly887=)
|
rs774598529
|
0.00001
|
NM_001999.4(FBN2):c.2675-8C>G
|
rs1451128883
|
0.00001
|
NM_001999.4(FBN2):c.2675A>G (p.Asp892Gly)
|
rs863223558
|
0.00001
|
NM_001999.4(FBN2):c.2715C>T (p.Ser905=)
|
rs998086640
|
0.00001
|
NM_001999.4(FBN2):c.2716C>T (p.Arg906Cys)
|
rs763094104
|
0.00001
|
NM_001999.4(FBN2):c.2731A>G (p.Ile911Val)
|
rs368766120
|
0.00001
|
NM_001999.4(FBN2):c.2740G>A (p.Ala914Thr)
|
rs370312107
|
0.00001
|
NM_001999.4(FBN2):c.2777C>A (p.Ala926Asp)
|
rs138429045
|
0.00001
|
NM_001999.4(FBN2):c.2813-12T>C
|
rs1395669341
|
0.00001
|
NM_001999.4(FBN2):c.2855C>T (p.Thr952Met)
|
rs766590294
|
0.00001
|
NM_001999.4(FBN2):c.2863+3G>A
|
rs762144935
|
0.00001
|
NM_001999.4(FBN2):c.2864-12A>G
|
rs1234935460
|
0.00001
|
NM_001999.4(FBN2):c.2874G>A (p.Glu958=)
|
rs765859878
|
0.00001
|
NM_001999.4(FBN2):c.294C>T (p.Cys98=)
|
rs765214316
|
0.00001
|
NM_001999.4(FBN2):c.2989+18A>T
|
rs769856454
|
0.00001
|
NM_001999.4(FBN2):c.2990-13G>A
|
rs375326505
|
0.00001
|
NM_001999.4(FBN2):c.29A>G (p.Gln10Arg)
|
rs547410742
|
0.00001
|
NM_001999.4(FBN2):c.3046G>A (p.Val1016Ile)
|
rs773235785
|
0.00001
|
NM_001999.4(FBN2):c.3054A>G (p.Gly1018=)
|
rs1255532545
|
0.00001
|
NM_001999.4(FBN2):c.3106G>A (p.Glu1036Lys)
|
rs773473369
|
0.00001
|
NM_001999.4(FBN2):c.3114G>C (p.Glu1038Asp)
|
rs199938409
|
0.00001
|
NM_001999.4(FBN2):c.3145G>A (p.Glu1049Lys)
|
rs771853346
|
0.00001
|
NM_001999.4(FBN2):c.3209T>A (p.Phe1070Tyr)
|
rs139118782
|
0.00001
|
NM_001999.4(FBN2):c.3253A>C (p.Thr1085Pro)
|
rs863223562
|
0.00001
|
NM_001999.4(FBN2):c.3277A>G (p.Ile1093Val)
|
rs747248488
|
0.00001
|
NM_001999.4(FBN2):c.3280G>A (p.Gly1094Arg)
|
rs758659538
|
0.00001
|
NM_001999.4(FBN2):c.3290A>C (p.Lys1097Thr)
|
rs765437414
|
0.00001
|
NM_001999.4(FBN2):c.3304A>G (p.Ser1102Gly)
|
rs761012607
|
0.00001
|
NM_001999.4(FBN2):c.3401C>T (p.Thr1134Ile)
|
rs863223602
|
0.00001
|
NM_001999.4(FBN2):c.3420C>T (p.Cys1140=)
|
rs756541654
|
0.00001
|
NM_001999.4(FBN2):c.3430G>A (p.Glu1144Lys)
|
rs200060005
|
0.00001
|
NM_001999.4(FBN2):c.3483A>G (p.Glu1161=)
|
rs761867143
|
0.00001
|
NM_001999.4(FBN2):c.3514G>A (p.Gly1172Ser)
|
rs138303817
|
0.00001
|
NM_001999.4(FBN2):c.3521G>A (p.Cys1174Tyr)
|
rs1581226080
|
0.00001
|
NM_001999.4(FBN2):c.3534G>C (p.Glu1178Asp)
|
rs771385579
|
0.00001
|
NM_001999.4(FBN2):c.3559C>A (p.Leu1187Met)
|
rs375710546
|
0.00001
|
NM_001999.4(FBN2):c.3563G>A (p.Gly1188Glu)
|
rs748888503
|
0.00001
|
NM_001999.4(FBN2):c.3565C>T (p.His1189Tyr)
|
rs779690646
|
0.00001
|
NM_001999.4(FBN2):c.3567C>T (p.His1189=)
|
rs945523399
|
0.00001
|
NM_001999.4(FBN2):c.3568G>A (p.Glu1190Lys)
|
rs755737169
|
0.00001
|
NM_001999.4(FBN2):c.3577C>T (p.Pro1193Ser)
|
rs749905043
|
0.00001
|
NM_001999.4(FBN2):c.3581C>T (p.Ser1194Phe)
|
rs914081385
|
0.00001
|
NM_001999.4(FBN2):c.3583C>T (p.Arg1195Cys)
|
rs757232992
|
0.00001
|
NM_001999.4(FBN2):c.3609A>G (p.Glu1203=)
|
rs941219425
|
0.00001
|
NM_001999.4(FBN2):c.3614C>T (p.Ser1205Phe)
|
rs1389689622
|
0.00001
|
NM_001999.4(FBN2):c.3630C>G (p.Leu1210=)
|
rs764902856
|
0.00001
|
NM_001999.4(FBN2):c.3660T>G (p.Ile1220Met)
|
rs558632824
|
0.00001
|
NM_001999.4(FBN2):c.3675C>T (p.Cys1225=)
|
rs141485941
|
0.00001
|
NM_001999.4(FBN2):c.3750C>T (p.Asn1250=)
|
rs750559514
|
0.00001
|
NM_001999.4(FBN2):c.3751G>A (p.Gly1251Arg)
|
rs1018550681
|
0.00001
|
NM_001999.4(FBN2):c.3877A>T (p.Ile1293Phe)
|
rs1263059454
|
0.00001
|
NM_001999.4(FBN2):c.3889G>A (p.Gly1297Ser)
|
rs755489065
|
0.00001
|
NM_001999.4(FBN2):c.3919C>T (p.Arg1307Cys)
|
rs922751471
|
0.00001
|
NM_001999.4(FBN2):c.3925C>T (p.Leu1309Phe)
|
rs763595235
|
0.00001
|
NM_001999.4(FBN2):c.3932A>G (p.Tyr1311Cys)
|
rs762514246
|
0.00001
|
NM_001999.4(FBN2):c.3971T>C (p.Ile1324Thr)
|
rs150872093
|
0.00001
|
NM_001999.4(FBN2):c.3984A>G (p.Glu1328=)
|
rs1394998823
|
0.00001
|
NM_001999.4(FBN2):c.4011G>A (p.Met1337Ile)
|
rs1231103337
|
0.00001
|
NM_001999.4(FBN2):c.4052A>G (p.His1351Arg)
|
rs1039821634
|
0.00001
|
NM_001999.4(FBN2):c.4096A>G (p.Thr1366Ala)
|
rs768722316
|
0.00001
|
NM_001999.4(FBN2):c.4124C>T (p.Ala1375Val)
|
rs768753485
|
0.00001
|
NM_001999.4(FBN2):c.4134C>T (p.Cys1378=)
|
rs775405425
|
0.00001
|
NM_001999.4(FBN2):c.413C>T (p.Ser138Leu)
|
rs149305476
|
0.00001
|
NM_001999.4(FBN2):c.4208G>A (p.Gly1403Asp)
|
rs750327890
|
0.00001
|
NM_001999.4(FBN2):c.4258A>G (p.Ser1420Gly)
|
rs1407868144
|
0.00001
|
NM_001999.4(FBN2):c.4283C>A (p.Thr1428Asn)
|
rs367961012
|
0.00001
|
NM_001999.4(FBN2):c.4287G>A (p.Pro1429=)
|
rs761049150
|
0.00001
|
NM_001999.4(FBN2):c.4296C>T (p.Tyr1432=)
|
rs147046215
|
0.00001
|
NM_001999.4(FBN2):c.42G>T (p.Leu14=)
|
rs376407285
|
0.00001
|
NM_001999.4(FBN2):c.432A>G (p.Lys144=)
|
rs201247200
|
0.00001
|
NM_001999.4(FBN2):c.4346-6G>T
|
rs755217606
|
0.00001
|
NM_001999.4(FBN2):c.4352A>G (p.Asp1451Gly)
|
rs766483687
|
0.00001
|
NM_001999.4(FBN2):c.4402G>A (p.Val1468Ile)
|
rs199668238
|
0.00001
|
NM_001999.4(FBN2):c.4402G>T (p.Val1468Phe)
|
rs199668238
|
0.00001
|
NM_001999.4(FBN2):c.4406C>T (p.Pro1469Leu)
|
rs770606176
|
0.00001
|
NM_001999.4(FBN2):c.4407G>A (p.Pro1469=)
|
rs546172367
|
0.00001
|
NM_001999.4(FBN2):c.4419C>T (p.Arg1473=)
|
rs1750619535
|
0.00001
|
NM_001999.4(FBN2):c.4422C>T (p.Cys1474=)
|
rs371629482
|
0.00001
|
NM_001999.4(FBN2):c.4453G>A (p.Asp1485Asn)
|
rs187786356
|
0.00001
|
NM_001999.4(FBN2):c.4515A>G (p.Thr1505=)
|
rs751938197
|
0.00001
|
NM_001999.4(FBN2):c.4585A>G (p.Asn1529Asp)
|
rs1085307489
|
0.00001
|
NM_001999.4(FBN2):c.4595-19T>C
|
rs201459526
|
0.00001
|
NM_001999.4(FBN2):c.4608T>C (p.Cys1536=)
|
rs1176811808
|
0.00001
|
NM_001999.4(FBN2):c.460A>G (p.Met154Val)
|
rs878854475
|
0.00001
|
NM_001999.4(FBN2):c.4690T>C (p.Leu1564=)
|
rs886038504
|
0.00001
|
NM_001999.4(FBN2):c.4708G>T (p.Gly1570Cys)
|
rs1554121027
|
0.00001
|
NM_001999.4(FBN2):c.472A>T (p.Thr158Ser)
|
rs886059904
|
0.00001
|
NM_001999.4(FBN2):c.4751G>T (p.Gly1584Val)
|
rs770269667
|
0.00001
|
NM_001999.4(FBN2):c.477T>C (p.Cys159=)
|
rs138601900
|
0.00001
|
NM_001999.4(FBN2):c.4808G>A (p.Arg1603His)
|
rs751661259
|
0.00001
|
NM_001999.4(FBN2):c.4864C>A (p.Pro1622Thr)
|
rs750116860
|
0.00001
|
NM_001999.4(FBN2):c.4867C>G (p.Pro1623Ala)
|
rs139830237
|
0.00001
|
NM_001999.4(FBN2):c.4879+7A>G
|
rs555328744
|
0.00001
|
NM_001999.4(FBN2):c.488A>G (p.His163Arg)
|
rs1029299660
|
0.00001
|
NM_001999.4(FBN2):c.4890C>T (p.Tyr1630=)
|
rs1488160637
|
0.00001
|
NM_001999.4(FBN2):c.4949-5T>C
|
rs1264068007
|
0.00001
|
NM_001999.4(FBN2):c.5015G>A (p.Ser1672Asn)
|
rs1018411631
|
0.00001
|
NM_001999.4(FBN2):c.5074+5G>A
|
rs374651068
|
0.00001
|
NM_001999.4(FBN2):c.5074+7T>C
|
rs201951284
|
0.00001
|
NM_001999.4(FBN2):c.5075-4C>G
|
rs779999668
|
0.00001
|
NM_001999.4(FBN2):c.5120C>T (p.Thr1707Ile)
|
rs572030603
|
0.00001
|
NM_001999.4(FBN2):c.5174A>T (p.Gln1725Leu)
|
rs1402545685
|
0.00001
|
NM_001999.4(FBN2):c.5201-3T>C
|
rs1057521162
|
0.00001
|
NM_001999.4(FBN2):c.5224C>T (p.Arg1742Ter)
|
rs1178371653
|
0.00001
|
NM_001999.4(FBN2):c.5225G>A (p.Arg1742Gln)
|
rs774411234
|
0.00001
|
NM_001999.4(FBN2):c.522T>C (p.Tyr174=)
|
rs573915338
|
0.00001
|
NM_001999.4(FBN2):c.5267A>G (p.Asn1756Ser)
|
rs760065931
|
0.00001
|
NM_001999.4(FBN2):c.5295A>C (p.Thr1765=)
|
rs941916367
|
0.00001
|
NM_001999.4(FBN2):c.52T>A (p.Cys18Ser)
|
rs1033004512
|
0.00001
|
NM_001999.4(FBN2):c.5303T>C (p.Val1768Ala)
|
rs779202876
|
0.00001
|
NM_001999.4(FBN2):c.533-4G>T
|
rs372596001
|
0.00001
|
NM_001999.4(FBN2):c.5353+20A>G
|
rs759401474
|
0.00001
|
NM_001999.4(FBN2):c.5354-14T>C
|
rs756825167
|
0.00001
|
NM_001999.4(FBN2):c.5426T>C (p.Ile1809Thr)
|
rs766034866
|
0.00001
|
NM_001999.4(FBN2):c.5427T>C (p.Ile1809=)
|
rs756365546
|
0.00001
|
NM_001999.4(FBN2):c.5487C>T (p.Gly1829=)
|
rs375136629
|
0.00001
|
NM_001999.4(FBN2):c.5539G>C (p.Val1847Leu)
|
rs863223610
|
0.00001
|
NM_001999.4(FBN2):c.5549-8T>A
|
rs1339062362
|
0.00001
|
NM_001999.4(FBN2):c.5587C>T (p.Arg1863Trp)
|
rs1192632165
|
0.00001
|
NM_001999.4(FBN2):c.559G>A (p.Gly187Ser)
|
rs773732645
|
0.00001
|
NM_001999.4(FBN2):c.5639C>T (p.Ala1880Val)
|
rs779567163
|
0.00001
|
NM_001999.4(FBN2):c.5660A>G (p.Asn1887Ser)
|
rs745759959
|
0.00001
|
NM_001999.4(FBN2):c.5682T>C (p.Asn1894=)
|
rs991908659
|
0.00001
|
NM_001999.4(FBN2):c.5692G>A (p.Glu1898Lys)
|
rs767932789
|
0.00001
|
NM_001999.4(FBN2):c.5701A>G (p.Asn1901Asp)
|
rs1010422106
|
0.00001
|
NM_001999.4(FBN2):c.5710A>C (p.Ser1904Arg)
|
rs1581202795
|
0.00001
|
NM_001999.4(FBN2):c.5731C>T (p.Leu1911=)
|
rs768733086
|
0.00001
|
NM_001999.4(FBN2):c.573C>T (p.Ile191=)
|
rs370698125
|
0.00001
|
NM_001999.4(FBN2):c.574G>A (p.Gly192Arg)
|
rs376398925
|
0.00001
|
NM_001999.4(FBN2):c.5800+10G>A
|
rs546373462
|
0.00001
|
NM_001999.4(FBN2):c.5801A>G (p.Asp1934Gly)
|
rs1554119542
|
0.00001
|
NM_001999.4(FBN2):c.5834A>G (p.Asn1945Ser)
|
rs863223578
|
0.00001
|
NM_001999.4(FBN2):c.5899C>T (p.His1967Tyr)
|
rs369652475
|
0.00001
|
NM_001999.4(FBN2):c.5900A>G (p.His1967Arg)
|
rs1314671452
|
0.00001
|
NM_001999.4(FBN2):c.5918-4A>G
|
rs1382347293
|
0.00001
|
NM_001999.4(FBN2):c.5918-7C>G
|
rs750463932
|
0.00001
|
NM_001999.4(FBN2):c.5921T>C (p.Ile1974Thr)
|
rs1060503501
|
0.00001
|
NM_001999.4(FBN2):c.5965C>T (p.Arg1989Cys)
|
rs758369648
|
0.00001
|
NM_001999.4(FBN2):c.5974A>G (p.Asn1992Asp)
|
rs1437992406
|
0.00001
|
NM_001999.4(FBN2):c.6002G>A (p.Cys2001Tyr)
|
rs878854476
|
0.00001
|
NM_001999.4(FBN2):c.6027A>G (p.Pro2009=)
|
rs147474868
|
0.00001
|
NM_001999.4(FBN2):c.6033C>G (p.Gly2011=)
|
rs749647897
|
0.00001
|
NM_001999.4(FBN2):c.6074G>A (p.Gly2025Asp)
|
rs547583705
|
0.00001
|
NM_001999.4(FBN2):c.6093C>G (p.Thr2031=)
|
rs1131691293
|
0.00001
|
NM_001999.4(FBN2):c.6140A>G (p.Tyr2047Cys)
|
rs368453513
|
0.00001
|
NM_001999.4(FBN2):c.6148A>G (p.Lys2050Glu)
|
rs863223611
|
0.00001
|
NM_001999.4(FBN2):c.617A>T (p.Gln206Leu)
|
rs1207752455
|
0.00001
|
NM_001999.4(FBN2):c.61C>T (p.Leu21Phe)
|
rs201321678
|
0.00001
|
NM_001999.4(FBN2):c.6205T>C (p.Phe2069Leu)
|
rs1295335940
|
0.00001
|
NM_001999.4(FBN2):c.6292+7T>C
|
rs775471488
|
0.00001
|
NM_001999.4(FBN2):c.6298C>T (p.Arg2100Cys)
|
rs1425263303
|
0.00001
|
NM_001999.4(FBN2):c.6306C>T (p.Ser2102=)
|
rs374717631
|
0.00001
|
NM_001999.4(FBN2):c.6438C>T (p.Asp2146=)
|
rs772832233
|
0.00001
|
NM_001999.4(FBN2):c.6445+10A>G
|
rs774706397
|
0.00001
|
NM_001999.4(FBN2):c.6445+11T>C
|
rs766726816
|
0.00001
|
NM_001999.4(FBN2):c.6445G>A (p.Val2149Ile)
|
rs1394667470
|
0.00001
|
NM_001999.4(FBN2):c.6450A>T (p.Ala2150=)
|
rs1199375914
|
0.00001
|
NM_001999.4(FBN2):c.6477T>C (p.His2159=)
|
rs768972914
|
0.00001
|
NM_001999.4(FBN2):c.6511+7T>C
|
rs1201683263
|
0.00001
|
NM_001999.4(FBN2):c.6512-14G>A
|
rs765303543
|
0.00001
|
NM_001999.4(FBN2):c.6512-3T>C
|
rs764271022
|
0.00001
|
NM_001999.4(FBN2):c.6518A>G (p.Asn2173Ser)
|
rs143054385
|
0.00001
|
NM_001999.4(FBN2):c.6558A>G (p.Gln2186=)
|
rs757216544
|
0.00001
|
NM_001999.4(FBN2):c.6584G>A (p.Arg2195His)
|
rs144887443
|
0.00001
|
NM_001999.4(FBN2):c.6598A>G (p.Met2200Val)
|
rs766808076
|
0.00001
|
NM_001999.4(FBN2):c.6609C>A (p.Asn2203Lys)
|
rs761101580
|
0.00001
|
NM_001999.4(FBN2):c.6610C>G (p.Leu2204Val)
|
rs201541140
|
0.00001
|
NM_001999.4(FBN2):c.6611T>C (p.Leu2204Pro)
|
rs772480416
|
0.00001
|
NM_001999.4(FBN2):c.6629G>A (p.Arg2210His)
|
rs745396297
|
0.00001
|
NM_001999.4(FBN2):c.6637+18A>G
|
rs777841785
|
0.00001
|
NM_001999.4(FBN2):c.6658G>A (p.Gly2220Ser)
|
rs863223582
|
0.00001
|
NM_001999.4(FBN2):c.6665C>T (p.Pro2222Leu)
|
rs747908706
|
0.00001
|
NM_001999.4(FBN2):c.6669T>C (p.Cys2223=)
|
rs754724355
|
0.00001
|
NM_001999.4(FBN2):c.671T>C (p.Met224Thr)
|
rs886038798
|
0.00001
|
NM_001999.4(FBN2):c.6758-14A>G
|
rs757283004
|
0.00001
|
NM_001999.4(FBN2):c.6795T>C (p.Ala2265=)
|
rs753071532
|
0.00001
|
NM_001999.4(FBN2):c.6805A>G (p.Met2269Val)
|
rs943225631
|
0.00001
|
NM_001999.4(FBN2):c.680G>A (p.Gly227Glu)
|
rs760247833
|
0.00001
|
NM_001999.4(FBN2):c.681G>T (p.Gly227=)
|
rs772923075
|
0.00001
|
NM_001999.4(FBN2):c.6834G>A (p.Thr2278=)
|
rs374853253
|
0.00001
|
NM_001999.4(FBN2):c.6843T>G (p.Ile2281Met)
|
rs770011418
|
0.00001
|
NM_001999.4(FBN2):c.6881-8T>G
|
rs1355994517
|
0.00001
|
NM_001999.4(FBN2):c.6885G>A (p.Leu2295=)
|
rs754211806
|
0.00001
|
NM_001999.4(FBN2):c.6896C>T (p.Ala2299Val)
|
rs756798856
|
0.00001
|
NM_001999.4(FBN2):c.6919T>A (p.Ser2307Thr)
|
rs1208950525
|
0.00001
|
NM_001999.4(FBN2):c.6949G>A (p.Gly2317Ser)
|
rs863223613
|
0.00001
|
NM_001999.4(FBN2):c.6959T>C (p.Met2320Thr)
|
rs749681942
|
0.00001
|
NM_001999.4(FBN2):c.6960G>A (p.Met2320Ile)
|
rs780214155
|
0.00001
|
NM_001999.4(FBN2):c.6990G>A (p.Arg2330=)
|
rs28763928
|
0.00001
|
NM_001999.4(FBN2):c.6996T>C (p.Asp2332=)
|
rs753673393
|
0.00001
|
NM_001999.4(FBN2):c.7007G>A (p.Cys2336Tyr)
|
rs760494751
|
0.00001
|
NM_001999.4(FBN2):c.7013-18T>C
|
rs375140877
|
0.00001
|
NM_001999.4(FBN2):c.7057C>T (p.Arg2353Cys)
|
rs863223586
|
0.00001
|
NM_001999.4(FBN2):c.7058G>A (p.Arg2353His)
|
rs775905979
|
0.00001
|
NM_001999.4(FBN2):c.7174C>A (p.Gln2392Lys)
|
rs762730300
|
0.00001
|
NM_001999.4(FBN2):c.7202G>A (p.Ser2401Asn)
|
rs758124873
|
0.00001
|
NM_001999.4(FBN2):c.7256G>T (p.Gly2419Val)
|
rs762058983
|
0.00001
|
NM_001999.4(FBN2):c.7262A>G (p.Gln2421Arg)
|
rs764759689
|
0.00001
|
NM_001999.4(FBN2):c.7266C>T (p.Cys2422=)
|
rs776227906
|
0.00001
|
NM_001999.4(FBN2):c.7306A>C (p.Ile2436Leu)
|
rs755134019
|
0.00001
|
NM_001999.4(FBN2):c.7308A>T (p.Ile2436=)
|
rs1005611432
|
0.00001
|
NM_001999.4(FBN2):c.7317T>C (p.His2439=)
|
rs1554117089
|
0.00001
|
NM_001999.4(FBN2):c.7331C>T (p.Thr2444Ile)
|
rs201883128
|
0.00001
|
NM_001999.4(FBN2):c.7345+3A>G
|
rs776419198
|
0.00001
|
NM_001999.4(FBN2):c.734G>A (p.Arg245Gln)
|
rs747507457
|
0.00001
|
NM_001999.4(FBN2):c.7385A>G (p.Asn2462Ser)
|
rs576501460
|
0.00001
|
NM_001999.4(FBN2):c.7396A>G (p.Ile2466Val)
|
rs373370945
|
0.00001
|
NM_001999.4(FBN2):c.73G>A (p.Gly25Ser)
|
rs763408652
|
0.00001
|
NM_001999.4(FBN2):c.7405A>G (p.Met2469Val)
|
rs863223546
|
0.00001
|
NM_001999.4(FBN2):c.7471+5C>T
|
rs369559870
|
0.00001
|
NM_001999.4(FBN2):c.7472-14T>A
|
rs772646837
|
0.00001
|
NM_001999.4(FBN2):c.7472-17A>G
|
rs773888786
|
0.00001
|
NM_001999.4(FBN2):c.7524C>T (p.Asn2508=)
|
rs1765389228
|
0.00001
|
NM_001999.4(FBN2):c.7553C>T (p.Pro2518Leu)
|
rs776761421
|
0.00001
|
NM_001999.4(FBN2):c.7595-8A>G
|
rs878854479
|
0.00001
|
NM_001999.4(FBN2):c.7632G>T (p.Gln2544His)
|
rs1451291857
|
0.00001
|
NM_001999.4(FBN2):c.7654G>C (p.Gly2552Arg)
|
rs375790581
|
0.00001
|
NM_001999.4(FBN2):c.7655G>A (p.Gly2552Glu)
|
rs1473525001
|
0.00001
|
NM_001999.4(FBN2):c.7659G>A (p.Gly2553=)
|
rs763586091
|
0.00001
|
NM_001999.4(FBN2):c.7676C>T (p.Pro2559Leu)
|
rs770193908
|
0.00001
|
NM_001999.4(FBN2):c.767C>T (p.Ala256Val)
|
rs1345155944
|
0.00001
|
NM_001999.4(FBN2):c.7720G>A (p.Glu2574Lys)
|
rs377689621
|
0.00001
|
NM_001999.4(FBN2):c.7740G>A (p.Ser2580=)
|
rs942206547
|
0.00001
|
NM_001999.4(FBN2):c.7741C>T (p.Leu2581Phe)
|
rs146316163
|
0.00001
|
NM_001999.4(FBN2):c.7767A>G (p.Gln2589=)
|
rs777828326
|
0.00001
|
NM_001999.4(FBN2):c.778C>G (p.Pro260Ala)
|
rs774323549
|
0.00001
|
NM_001999.4(FBN2):c.787C>T (p.Arg263Trp)
|
rs151329128
|
0.00001
|
NM_001999.4(FBN2):c.7886A>G (p.Gln2629Arg)
|
rs768750542
|
0.00001
|
NM_001999.4(FBN2):c.791G>A (p.Gly264Asp)
|
rs746046058
|
0.00001
|
NM_001999.4(FBN2):c.7960+20A>G
|
rs761551216
|
0.00001
|
NM_001999.4(FBN2):c.7960+5G>A
|
rs863223590
|
0.00001
|
NM_001999.4(FBN2):c.7961-11C>T
|
rs751924753
|
0.00001
|
NM_001999.4(FBN2):c.7985A>G (p.Asn2662Ser)
|
rs765867245
|
0.00001
|
NM_001999.4(FBN2):c.7987G>A (p.Ala2663Thr)
|
rs1245151549
|
0.00001
|
NM_001999.4(FBN2):c.798C>G (p.Ile266Met)
|
rs1754660877
|
0.00001
|
NM_001999.4(FBN2):c.8045C>T (p.Ser2682Leu)
|
rs370250073
|
0.00001
|
NM_001999.4(FBN2):c.8099C>T (p.Ser2700Leu)
|
rs776788539
|
0.00001
|
NM_001999.4(FBN2):c.8125G>A (p.Gly2709Ser)
|
rs145809527
|
0.00001
|
NM_001999.4(FBN2):c.8193-7C>G
|
rs754837805
|
0.00001
|
NM_001999.4(FBN2):c.8196C>T (p.His2732=)
|
rs780426123
|
0.00001
|
NM_001999.4(FBN2):c.8254G>A (p.Asp2752Asn)
|
rs529742815
|
0.00001
|
NM_001999.4(FBN2):c.827-19A>G
|
rs199559284
|
0.00001
|
NM_001999.4(FBN2):c.82G>T (p.Gly28Cys)
|
rs772841538
|
0.00001
|
NM_001999.4(FBN2):c.8302A>C (p.Asn2768His)
|
rs1262933234
|
0.00001
|
NM_001999.4(FBN2):c.8325C>T (p.Ser2775=)
|
rs368712261
|
0.00001
|
NM_001999.4(FBN2):c.8344C>T (p.His2782Tyr)
|
rs745600341
|
0.00001
|
NM_001999.4(FBN2):c.8365-5T>C
|
rs1237152538
|
0.00001
|
NM_001999.4(FBN2):c.8365-7C>A
|
rs1185451078
|
0.00001
|
NM_001999.4(FBN2):c.8413A>G (p.Met2805Val)
|
rs776610785
|
0.00001
|
NM_001999.4(FBN2):c.8417A>T (p.Lys2806Met)
|
rs565816741
|
0.00001
|
NM_001999.4(FBN2):c.8423A>G (p.Asn2808Ser)
|
rs772227931
|
0.00001
|
NM_001999.4(FBN2):c.8426T>C (p.Leu2809Pro)
|
rs863223591
|
0.00001
|
NM_001999.4(FBN2):c.8437G>A (p.Gly2813Ser)
|
rs199808954
|
0.00001
|
NM_001999.4(FBN2):c.8458G>A (p.Glu2820Lys)
|
rs752384882
|
0.00001
|
NM_001999.4(FBN2):c.8513A>G (p.Gln2838Arg)
|
rs772928933
|
0.00001
|
NM_001999.4(FBN2):c.8574G>A (p.Thr2858=)
|
rs573245869
|
0.00001
|
NM_001999.4(FBN2):c.8668A>G (p.Asn2890Asp)
|
rs888064842
|
0.00001
|
NM_001999.4(FBN2):c.8675A>G (p.Asp2892Gly)
|
rs768293070
|
0.00001
|
NM_001999.4(FBN2):c.8681A>C (p.Tyr2894Ser)
|
rs779659640
|
0.00001
|
NM_001999.4(FBN2):c.86A>C (p.Gln29Pro)
|
rs771712321
|
0.00001
|
NM_001999.4(FBN2):c.8705C>A (p.Ala2902Asp)
|
rs757052151
|
0.00001
|
NM_001999.4(FBN2):c.885A>G (p.Thr295=)
|
rs989219711
|
0.00001
|
NM_001999.4(FBN2):c.893C>G (p.Ser298Cys)
|
rs577855501
|
0.00001
|
NM_001999.4(FBN2):c.951A>G (p.Glu317=)
|
rs1326391832
|
0.00001
|
NM_001999.4(FBN2):c.953-3T>A
|
rs1020574940
|
0.00001
|
NM_001999.4(FBN2):c.953-9C>T
|
rs1181205032
|
0.00001
|
NC_000005.10:g.(?_128300797)_(128303109_?)del
|
|
|
NC_000005.10:g.(?_128301372)_(128312805_?)dup
|
|
|
NC_000005.10:g.(?_128318139)_(128319011_?)dup
|
|
|
NC_000005.10:g.(?_128318149)_(128319001_?)del
|
|
|
NC_000005.10:g.(?_128328686)_(128330705_?)del
|
|
|
NC_000005.10:g.(?_128350858)_(128351015_?)del
|
|
|
NC_000005.10:g.(?_128408654)_(128530713_?)del
|
|
|
NC_000005.10:g.(?_128408664)_(128530703_?)del
|
|
|
NC_000005.10:g.(?_128530575)_(128530713_?)del
|
|
|
NC_000005.10:g.(?_128537340)_(128537613_?)del
|
|
|
NC_000005.9:g.(?_127595147)_(127873296_?)del
|
|
|
NC_000005.9:g.(?_127595147)_(127873296_?)dup
|
|
|
NC_000005.9:g.(?_127622400)_(127645101_?)dup
|
|
|
NC_000005.9:g.(?_127636489)_(127637222_?)del
|
|
|
NC_000005.9:g.(?_127653831)_(127654703_?)del
|
|
|
NC_000005.9:g.(?_127666245)_(127668746_?)del
|
|
|
NC_000005.9:g.(?_127666331)_(127799615_?)del
|
|
|
NC_000005.9:g.(?_127680057)_(127873296_?)del
|
|
|
NC_000005.9:g.(?_127685029)_(127686707_?)del
|
|
|
NC_000005.9:g.(?_127689859)_(127693060_?)del
|
|
|
NC_000005.9:g.(?_127692948)_(127697561_?)del
|
|
|
NC_000005.9:g.(?_127712503)_(127716032_?)del
|
|
|
NC_000005.9:g.(?_127728808)_(127873296_?)del
|
|
|
NC_000005.9:g.(?_127872075)_(127873296_?)del
|
|
|
NM_001999.4(FBN2):c.1007A>G (p.Asn336Ser)
|
rs1752993803
|
|
NM_001999.4(FBN2):c.1012G>T (p.Val338Leu)
|
|
|
NM_001999.4(FBN2):c.1014G>A (p.Val338=)
|
|
|
NM_001999.4(FBN2):c.1018A>G (p.Ser340Gly)
|
|
|
NM_001999.4(FBN2):c.1019G>A (p.Ser340Asn)
|
|
|
NM_001999.4(FBN2):c.102G>A (p.Pro34=)
|
|
|
NM_001999.4(FBN2):c.1030G>T (p.Val344Phe)
|
|
|
NM_001999.4(FBN2):c.1038A>G (p.Pro346=)
|
|
|
NM_001999.4(FBN2):c.104C>T (p.Pro35Leu)
|
rs2112810970
|
|
NM_001999.4(FBN2):c.1053C>T (p.Thr351=)
|
rs1554067080
|
|
NM_001999.4(FBN2):c.1061A>T (p.Asp354Val)
|
|
|
NM_001999.4(FBN2):c.1069C>T (p.Arg357Ter)
|
rs1752991946
|
|
NM_001999.4(FBN2):c.1072T>C (p.Cys358Arg)
|
|
|
NM_001999.4(FBN2):c.1075A>G (p.Ile359Val)
|
|
|
NM_001999.4(FBN2):c.1078+10G>A
|
|
|
NM_001999.4(FBN2):c.1078+5G>A
|
rs1752991507
|
|
NM_001999.4(FBN2):c.1078+9C>G
|
rs371692018
|
|
NM_001999.4(FBN2):c.1078G>C (p.Asp360His)
|
|
|
NM_001999.4(FBN2):c.1079-7T>C
|
|
|
NM_001999.4(FBN2):c.1079-9C>T
|
|
|
NM_001999.4(FBN2):c.107A>G (p.Lys36Arg)
|
|
|
NM_001999.4(FBN2):c.10A>G (p.Arg4Gly)
|
|
|
NM_001999.4(FBN2):c.1107C>T (p.Gly369=)
|
rs1060503505
|
|
NM_001999.4(FBN2):c.1119C>A (p.Gly373=)
|
rs1554066145
|
|
NM_001999.4(FBN2):c.111G>C (p.Pro37=)
|
|
|
NM_001999.4(FBN2):c.1121G>A (p.Arg374His)
|
|
|
NM_001999.4(FBN2):c.112C>T (p.Pro38Ser)
|
|
|
NM_001999.4(FBN2):c.1145G>C (p.Arg382Thr)
|
|
|
NM_001999.4(FBN2):c.1156A>G (p.Met386Val)
|
|
|
NM_001999.4(FBN2):c.115C>A (p.Arg39=)
|
rs763202121
|
|
NM_001999.4(FBN2):c.116_130dup (p.Pro43_Pro44insArgProGlnProPro)
|
|
|
NM_001999.4(FBN2):c.117G>T (p.Arg39=)
|
|
|
NM_001999.4(FBN2):c.117del (p.Gln41fs)
|
|
|
NM_001999.4(FBN2):c.1189G>A (p.Gly397Ser)
|
|
|
NM_001999.4(FBN2):c.118C>T (p.Pro40Ser)
|
rs2112810915
|
|
NM_001999.4(FBN2):c.1194C>A (p.Ile398=)
|
|
|
NM_001999.4(FBN2):c.1200C>A (p.Thr400=)
|
|
|
NM_001999.4(FBN2):c.1209dup (p.Ala404fs)
|
rs1752614082
|
|
NM_001999.4(FBN2):c.120C>T (p.Pro40=)
|
|
|
NM_001999.4(FBN2):c.1231+12G>A
|
|
|
NM_001999.4(FBN2):c.1231+15G>A
|
|
|
NM_001999.4(FBN2):c.1231+19G>A
|
|
|
NM_001999.4(FBN2):c.1232-6T>C
|
rs1581260490
|
|
NM_001999.4(FBN2):c.1232-8T>C
|
|
|
NM_001999.4(FBN2):c.1236A>G (p.Glu412=)
|
|
|
NM_001999.4(FBN2):c.1241G>A (p.Arg414His)
|
|
|
NM_001999.4(FBN2):c.1275A>T (p.Gly425=)
|
|
|
NM_001999.4(FBN2):c.1278T>G (p.Ile426Met)
|
rs1752569770
|
|
NM_001999.4(FBN2):c.1280C>T (p.Pro427Leu)
|
|
|
NM_001999.4(FBN2):c.1281A>G (p.Pro427=)
|
|
|
NM_001999.4(FBN2):c.1288G>T (p.Ala430Ser)
|
|
|
NM_001999.4(FBN2):c.1295C>A (p.Ser432Tyr)
|
|
|
NM_001999.4(FBN2):c.1316del (p.Gly439fs)
|
|
|
NM_001999.4(FBN2):c.132G>A (p.Pro44=)
|
rs199702573
|
|
NM_001999.4(FBN2):c.132G>T (p.Pro44=)
|
|
|
NM_001999.4(FBN2):c.1330C>G (p.Pro444Ala)
|
|
|
NM_001999.4(FBN2):c.1340A>G (p.Asn447Ser)
|
rs1554066013
|
|
NM_001999.4(FBN2):c.134A>C (p.Gln45Pro)
|
|
|
NM_001999.4(FBN2):c.134A>T (p.Gln45Leu)
|
rs774411616
|
|
NM_001999.4(FBN2):c.1351_1356del (p.Tyr451_Gly452del)
|
rs730880109
|
|
NM_001999.4(FBN2):c.135A>G (p.Gln45=)
|
rs1182394348
|
|
NM_001999.4(FBN2):c.1364G>A (p.Gly455Glu)
|
|
|
NM_001999.4(FBN2):c.1364G>C (p.Gly455Ala)
|
|
|
NM_001999.4(FBN2):c.1380C>T (p.Pro460=)
|
|
|
NM_001999.4(FBN2):c.1382T>A (p.Ile461Asn)
|
|
|
NM_001999.4(FBN2):c.1386T>C (p.Pro462=)
|
rs778468050
|
|
NM_001999.4(FBN2):c.1398C>T (p.Gly466=)
|
rs1554066010
|
|
NM_001999.4(FBN2):c.1411G>C (p.Val471Leu)
|
rs138046782
|
|
NM_001999.4(FBN2):c.1421C>G (p.Ala474Gly)
|
|
|
NM_001999.4(FBN2):c.1423G>C (p.Gly475Arg)
|
rs200440156
|
|
NM_001999.4(FBN2):c.1437G>A (p.Gly479=)
|
|
|
NM_001999.4(FBN2):c.1438G>A (p.Gly480Arg)
|
|
|
NM_001999.4(FBN2):c.1439G>A (p.Gly480Glu)
|
|
|
NM_001999.4(FBN2):c.1443G>A (p.Gln481=)
|
rs923812426
|
|
NM_001999.4(FBN2):c.1443G>C (p.Gln481His)
|
rs923812426
|
|
NM_001999.4(FBN2):c.1452C>T (p.Ile484=)
|
|
|
NM_001999.4(FBN2):c.1456A>T (p.Thr486Ser)
|
|
|
NM_001999.4(FBN2):c.1458T>A (p.Thr486=)
|
|
|
NM_001999.4(FBN2):c.1465+17C>T
|
|
|
NM_001999.4(FBN2):c.1466-12A>G
|
|
|
NM_001999.4(FBN2):c.1466-17G>T
|
rs2126977471
|
|
NM_001999.4(FBN2):c.1466-19G>T
|
|
|
NM_001999.4(FBN2):c.1466-5del
|
|
|
NM_001999.4(FBN2):c.1473G>C (p.Leu491=)
|
|
|
NM_001999.4(FBN2):c.147C>A (p.Ser49=)
|
|
|
NM_001999.4(FBN2):c.147C>T (p.Ser49=)
|
rs1194404343
|
|
NM_001999.4(FBN2):c.1489A>G (p.Ile497Val)
|
|
|
NM_001999.4(FBN2):c.1490T>C (p.Ile497Thr)
|
|
|
NM_001999.4(FBN2):c.1491C>G (p.Ile497Met)
|
rs1158937805
|
|
NM_001999.4(FBN2):c.1500T>G (p.His500Gln)
|
|
|
NM_001999.4(FBN2):c.1512T>G (p.Leu504=)
|
|
|
NM_001999.4(FBN2):c.1526G>A (p.Arg509His)
|
rs199587570
|
|
NM_001999.4(FBN2):c.152C>G (p.Thr51Arg)
|
rs1060503509
|
|
NM_001999.4(FBN2):c.1537A>G (p.Thr513Ala)
|
|
|
NM_001999.4(FBN2):c.1543T>A (p.Ser515Thr)
|
rs528255772
|
|
NM_001999.4(FBN2):c.1567A>G (p.Met523Val)
|
|
|
NM_001999.4(FBN2):c.1586C>A (p.Ala529Glu)
|
|
|
NM_001999.4(FBN2):c.1589A>G (p.Asn530Ser)
|
|
|
NM_001999.4(FBN2):c.1600A>G (p.Ile534Val)
|
rs1752527949
|
|
NM_001999.4(FBN2):c.1601T>C (p.Ile534Thr)
|
rs762032979
|
|
NM_001999.4(FBN2):c.1603+15C>G
|
|
|
NM_001999.4(FBN2):c.1603+19A>G
|
|
|
NM_001999.4(FBN2):c.1603+6T>C
|
rs1752527763
|
|
NM_001999.4(FBN2):c.1603+9G>C
|
rs774984154
|
|
NM_001999.4(FBN2):c.1604-1G>A
|
|
|
NM_001999.4(FBN2):c.1604-7C>T
|
rs2126960298
|
|
NM_001999.4(FBN2):c.1604-8G>C
|
|
|
NM_001999.4(FBN2):c.1612G>A (p.Glu538Lys)
|
rs1561427124
|
|
NM_001999.4(FBN2):c.1614A>G (p.Glu538=)
|
|
|
NM_001999.4(FBN2):c.1616G>T (p.Cys539Phe)
|
rs1456682417
|
|
NM_001999.4(FBN2):c.161C>T (p.Ser54Phe)
|
|
|
NM_001999.4(FBN2):c.1624A>G (p.Asn542Asp)
|
rs781622385
|
|
NM_001999.4(FBN2):c.1626T>A (p.Asn542Lys)
|
rs2126960231
|
|
NM_001999.4(FBN2):c.162T>G (p.Ser54=)
|
|
|
NM_001999.4(FBN2):c.1637A>C (p.Asn546Thr)
|
|
|
NM_001999.4(FBN2):c.1642G>T (p.Asp548Tyr)
|
rs1581251809
|
|
NM_001999.4(FBN2):c.1644T>C (p.Asp548=)
|
|
|
NM_001999.4(FBN2):c.1658C>G (p.Pro553Arg)
|
rs2126960181
|
|
NM_001999.4(FBN2):c.1660G>C (p.Gly554Arg)
|
rs1283833434
|
|
NM_001999.4(FBN2):c.1662T>C (p.Gly554=)
|
rs1400948280
|
|
NM_001999.4(FBN2):c.1681C>T (p.His561Tyr)
|
rs2126960142
|
|
NM_001999.4(FBN2):c.1686T>G (p.Ala562=)
|
rs1581251758
|
|
NM_001999.4(FBN2):c.169G>T (p.Gly57Trp)
|
rs2112810796
|
|
NM_001999.4(FBN2):c.16A>T (p.Arg6Trp)
|
|
|
NM_001999.4(FBN2):c.1717T>C (p.Cys573Arg)
|
rs376737293
|
|
NM_001999.4(FBN2):c.1723+12T>G
|
|
|
NM_001999.4(FBN2):c.1723+3A>G
|
rs2126960065
|
|
NM_001999.4(FBN2):c.1724-14C>A
|
|
|
NM_001999.4(FBN2):c.1724-2A>G
|
rs876661172
|
|
NM_001999.4(FBN2):c.1729G>A (p.Asp577Asn)
|
rs1230736233
|
|
NM_001999.4(FBN2):c.1759A>G (p.Lys587Glu)
|
|
|
NM_001999.4(FBN2):c.175C>T (p.Leu59=)
|
|
|
NM_001999.4(FBN2):c.1760A>G (p.Lys587Arg)
|
rs759733025
|
|
NM_001999.4(FBN2):c.1773C>T (p.Cys591=)
|
rs763629454
|
|
NM_001999.4(FBN2):c.1780A>G (p.Thr594Ala)
|
rs1554064868
|
|
NM_001999.4(FBN2):c.1784A>T (p.Asp595Val)
|
|
|
NM_001999.4(FBN2):c.1797G>A (p.Gln599=)
|
|
|
NM_001999.4(FBN2):c.1797G>T (p.Gln599His)
|
|
|
NM_001999.4(FBN2):c.1804del (p.Cys602fs)
|
rs886038824
|
|
NM_001999.4(FBN2):c.1814G>T (p.Gly605Val)
|
rs1581250994
|
|
NM_001999.4(FBN2):c.1831G>A (p.Asp611Asn)
|
|
|
NM_001999.4(FBN2):c.1844G>T (p.Cys615Phe)
|
rs1060503507
|
|
NM_001999.4(FBN2):c.1849+20C>T
|
|
|
NM_001999.4(FBN2):c.1862G>A (p.Cys621Tyr)
|
rs1752093236
|
|
NM_001999.4(FBN2):c.1888G>A (p.Gly630Arg)
|
rs1060503499
|
|
NM_001999.4(FBN2):c.189T>C (p.Tyr63=)
|
rs1435288732
|
|
NM_001999.4(FBN2):c.18G>A (p.Arg6=)
|
|
|
NM_001999.4(FBN2):c.18G>T (p.Arg6Ser)
|
|
|
NM_001999.4(FBN2):c.1901A>G (p.Asn634Ser)
|
rs748715881
|
|
NM_001999.4(FBN2):c.1917C>T (p.Phe639=)
|
|
|
NM_001999.4(FBN2):c.193G>C (p.Glu65Gln)
|
rs1561504900
|
|
NM_001999.4(FBN2):c.1943T>C (p.Val648Ala)
|
|
|
NM_001999.4(FBN2):c.1954A>C (p.Asn652His)
|
rs749765413
|
|
NM_001999.4(FBN2):c.1954A>G (p.Asn652Asp)
|
|
|
NM_001999.4(FBN2):c.1959G>T (p.Gly653=)
|
|
|
NM_001999.4(FBN2):c.1960C>T (p.Arg654Cys)
|
|
|
NM_001999.4(FBN2):c.1972+10G>T
|
|
|
NM_001999.4(FBN2):c.1972+4TG[2]
|
|
|
NM_001999.4(FBN2):c.1973-8C>A
|
|
|
NM_001999.4(FBN2):c.1973-9A>T
|
|
|
NM_001999.4(FBN2):c.1988A>C (p.Gln663Pro)
|
rs863223556
|
|
NM_001999.4(FBN2):c.1990A>G (p.Thr664Ala)
|
rs746408145
|
|
NM_001999.4(FBN2):c.1991C>T (p.Thr664Ile)
|
rs2126954772
|
|
NM_001999.4(FBN2):c.1995A>G (p.Pro665=)
|
|
|
NM_001999.4(FBN2):c.2014C>T (p.His672Tyr)
|
|
|
NM_001999.4(FBN2):c.2030A>G (p.Glu677Gly)
|
rs2126954710
|
|
NM_001999.4(FBN2):c.2034G>T (p.Gly678=)
|
rs1357250229
|
|
NM_001999.4(FBN2):c.2042G>T (p.Arg681Leu)
|
rs548605398
|
|
NM_001999.4(FBN2):c.2045G>A (p.Cys682Tyr)
|
rs1752034896
|
|
NM_001999.4(FBN2):c.2049C>T (p.Asp683=)
|
|
|
NM_001999.4(FBN2):c.2053C>A (p.Pro685Thr)
|
rs141291125
|
|
NM_001999.4(FBN2):c.2054C>T (p.Pro685Leu)
|
rs1581249148
|
|
NM_001999.4(FBN2):c.2056C>T (p.Pro686Ser)
|
rs1752034485
|
|
NM_001999.4(FBN2):c.2060G>A (p.Gly687Asp)
|
|
|
NM_001999.4(FBN2):c.2065_2066delinsAA (p.Ala689Asn)
|
rs869025430
|
|
NM_001999.4(FBN2):c.2066C>G (p.Ala689Gly)
|
rs781745158
|
|
NM_001999.4(FBN2):c.206C>T (p.Ala69Val)
|
rs1756883252
|
|
NM_001999.4(FBN2):c.2081G>C (p.Gly694Ala)
|
|
|
NM_001999.4(FBN2):c.2089T>C (p.Cys697Arg)
|
|
|
NM_001999.4(FBN2):c.208G>C (p.Val70Leu)
|
rs1756883199
|
|
NM_001999.4(FBN2):c.2092G>T (p.Val698Phe)
|
|
|
NM_001999.4(FBN2):c.2095+1G>A
|
|
|
NM_001999.4(FBN2):c.2095+2_2095+7del
|
rs1752033073
|
|
NM_001999.4(FBN2):c.2095+5G>A
|
rs2126954577
|
|
NM_001999.4(FBN2):c.2095+8A>T
|
|
|
NM_001999.4(FBN2):c.2098A>G (p.Thr700Ala)
|
|
|
NM_001999.4(FBN2):c.209T>A (p.Val70Glu)
|
|
|
NM_001999.4(FBN2):c.2103C>T (p.His701=)
|
rs148920354
|
|
NM_001999.4(FBN2):c.2107C>T (p.Arg703Cys)
|
rs748861935
|
|
NM_001999.4(FBN2):c.2108G>T (p.Arg703Leu)
|
|
|
NM_001999.4(FBN2):c.212C>G (p.Ala71Gly)
|
|
|
NM_001999.4(FBN2):c.2132A>G (p.Lys711Arg)
|
rs1006288282
|
|
NM_001999.4(FBN2):c.2140G>A (p.Val714Met)
|
|
|
NM_001999.4(FBN2):c.2150G>A (p.Arg717His)
|
|
|
NM_001999.4(FBN2):c.2161G>A (p.Gly721Ser)
|
rs149733159
|
|
NM_001999.4(FBN2):c.2161G>C (p.Gly721Arg)
|
rs149733159
|
|
NM_001999.4(FBN2):c.2164G>T (p.Ala722Ser)
|
|
|
NM_001999.4(FBN2):c.216C>T (p.Ser72=)
|
|
|
NM_001999.4(FBN2):c.2171C>T (p.Thr724Ile)
|
|
|
NM_001999.4(FBN2):c.2175G>C (p.Lys725Asn)
|
rs2126947449
|
|
NM_001999.4(FBN2):c.2187C>T (p.Cys729=)
|
|
|
NM_001999.4(FBN2):c.21G>A (p.Leu7=)
|
rs1002853093
|
|
NM_001999.4(FBN2):c.2227C>T (p.Pro743Ser)
|
rs1554064242
|
|
NM_001999.4(FBN2):c.2236G>A (p.Ala746Thr)
|
|
|
NM_001999.4(FBN2):c.2248+11G>C
|
|
|
NM_001999.4(FBN2):c.2248+4G>A
|
rs752467521
|
|
NM_001999.4(FBN2):c.2249-15C>T
|
|
|
NM_001999.4(FBN2):c.2249-18T>C
|
rs996601598
|
|
NM_001999.4(FBN2):c.2260G>C (p.Gly754Arg)
|
rs145259927
|
|
NM_001999.4(FBN2):c.2302+16C>A
|
|
|
NM_001999.4(FBN2):c.2302+9A>G
|
|
|
NM_001999.4(FBN2):c.2303-18T>G
|
|
|
NM_001999.4(FBN2):c.2303-2A>G
|
rs1751723379
|
|
NM_001999.4(FBN2):c.2326C>T (p.Pro776Ser)
|
|
|
NM_001999.4(FBN2):c.2329G>A (p.Asp777Asn)
|
|
|
NM_001999.4(FBN2):c.2334A>G (p.Ile778Met)
|
|
|
NM_001999.4(FBN2):c.2335T>C (p.Cys779Arg)
|
rs1751722668
|
|
NM_001999.4(FBN2):c.2340C>T (p.Ala780=)
|
rs1060504935
|
|
NM_001999.4(FBN2):c.2356A>C (p.Asn786His)
|
|
|
NM_001999.4(FBN2):c.2359T>A (p.Leu787Ile)
|
rs756348656
|
|
NM_001999.4(FBN2):c.2359T>C (p.Leu787=)
|
|
|
NM_001999.4(FBN2):c.2365G>C (p.Gly789Arg)
|
rs886038969
|
|
NM_001999.4(FBN2):c.2367T>C (p.Gly789=)
|
|
|
NM_001999.4(FBN2):c.2376T>C (p.Arg792=)
|
|
|
NM_001999.4(FBN2):c.2384G>A (p.Cys795Tyr)
|
rs1057524398
|
|
NM_001999.4(FBN2):c.239A>G (p.Gln80Arg)
|
|
|
NM_001999.4(FBN2):c.2406T>A (p.Asp802Glu)
|
rs568169177
|
|
NM_001999.4(FBN2):c.2406T>G (p.Asp802Glu)
|
rs568169177
|
|
NM_001999.4(FBN2):c.2428+12G>T
|
|
|
NM_001999.4(FBN2):c.2428+18T>C
|
rs775383249
|
|
NM_001999.4(FBN2):c.2428+1G>T
|
rs1751719964
|
|
NM_001999.4(FBN2):c.2429-17T>G
|
|
|
NM_001999.4(FBN2):c.2429-1G>A
|
rs1270553787
|
|
NM_001999.4(FBN2):c.2433T>A (p.Ile811=)
|
|
|
NM_001999.4(FBN2):c.2436T>C (p.Asp812=)
|
|
|
NM_001999.4(FBN2):c.2439A>G (p.Glu813=)
|
rs1581241374
|
|
NM_001999.4(FBN2):c.2457G>A (p.Leu819=)
|
rs370465689
|
|
NM_001999.4(FBN2):c.2457G>T (p.Leu819=)
|
|
|
NM_001999.4(FBN2):c.2466T>C (p.Asp822=)
|
|
|
NM_001999.4(FBN2):c.2473T>C (p.Leu825=)
|
|
|
NM_001999.4(FBN2):c.2475G>T (p.Leu825Phe)
|
|
|
NM_001999.4(FBN2):c.2486C>T (p.Thr829Met)
|
|
|
NM_001999.4(FBN2):c.2487G>A (p.Thr829=)
|
rs779455710
|
|
NM_001999.4(FBN2):c.2492G>A (p.Gly831Glu)
|
rs2126937089
|
|
NM_001999.4(FBN2):c.2506A>T (p.Thr836Ser)
|
|
|
NM_001999.4(FBN2):c.2507C>T (p.Thr836Met)
|
rs957177447
|
|
NM_001999.4(FBN2):c.2515C>A (p.Pro839Thr)
|
rs751263399
|
|
NM_001999.4(FBN2):c.251G>A (p.Arg84Gln)
|
rs747084358
|
|
NM_001999.4(FBN2):c.251G>C (p.Arg84Pro)
|
|
|
NM_001999.4(FBN2):c.2530A>G (p.Arg844Gly)
|
|
|
NM_001999.4(FBN2):c.2539A>G (p.Thr847Ala)
|
rs878854474
|
|
NM_001999.4(FBN2):c.254+10C>G
|
|
|
NM_001999.4(FBN2):c.254+14C>G
|
|
|
NM_001999.4(FBN2):c.254+20C>G
|
|
|
NM_001999.4(FBN2):c.254+5G>A
|
|
|
NM_001999.4(FBN2):c.2554+5G>T
|
rs2126936993
|
|
NM_001999.4(FBN2):c.2555-20C>G
|
|
|
NM_001999.4(FBN2):c.2556T>C (p.Asp852=)
|
rs2126931519
|
|
NM_001999.4(FBN2):c.2557A>C (p.Ile853Leu)
|
rs148598779
|
|
NM_001999.4(FBN2):c.2557A>G (p.Ile853Val)
|
rs148598779
|
|
NM_001999.4(FBN2):c.256C>T (p.Pro86Ser)
|
|
|
NM_001999.4(FBN2):c.2572A>G (p.Ser858Gly)
|
|
|
NM_001999.4(FBN2):c.2588A>G (p.Asn863Ser)
|
|
|
NM_001999.4(FBN2):c.2592G>A (p.Gly864=)
|
|
|
NM_001999.4(FBN2):c.259A>G (p.Asn87Asp)
|
rs756569459
|
|
NM_001999.4(FBN2):c.2606A>C (p.Asn869Thr)
|
|
|
NM_001999.4(FBN2):c.2611G>C (p.Gly871Arg)
|
rs1751526889
|
|
NM_001999.4(FBN2):c.2615C>A (p.Ser872Tyr)
|
|
|
NM_001999.4(FBN2):c.2621A>G (p.Asn874Ser)
|
|
|
NM_001999.4(FBN2):c.262G>C (p.Val88Leu)
|
|
|
NM_001999.4(FBN2):c.2631T>C (p.Cys877=)
|
|
|
NM_001999.4(FBN2):c.2633C>T (p.Ser878Leu)
|
|
|
NM_001999.4(FBN2):c.2634G>T (p.Ser878=)
|
rs143905167
|
|
NM_001999.4(FBN2):c.2639G>A (p.Gly880Asp)
|
|
|
NM_001999.4(FBN2):c.2645A>G (p.Lys882Arg)
|
rs1168151418
|
|
NM_001999.4(FBN2):c.2646A>G (p.Lys882=)
|
rs1035674949
|
|
NM_001999.4(FBN2):c.2648T>A (p.Leu883His)
|
|
|
NM_001999.4(FBN2):c.264G>T (p.Val88=)
|
rs1167442198
|
|
NM_001999.4(FBN2):c.2674+6A>T
|
rs1381952326
|
|
NM_001999.4(FBN2):c.2674+9del
|
rs2126931306
|
|
NM_001999.4(FBN2):c.2675-20C>T
|
|
|
NM_001999.4(FBN2):c.2676C>G (p.Asp892Glu)
|
|
|
NM_001999.4(FBN2):c.2679C>G (p.Ser893Arg)
|
rs778473524
|
|
NM_001999.4(FBN2):c.2694T>C (p.Cys898=)
|
|
|
NM_001999.4(FBN2):c.2701A>G (p.Asn901Asp)
|
|
|
NM_001999.4(FBN2):c.2719T>C (p.Cys907Arg)
|
rs863223599
|
|
NM_001999.4(FBN2):c.2725G>A (p.Val909Met)
|
|
|
NM_001999.4(FBN2):c.2735A>G (p.Asn912Ser)
|
|
|
NM_001999.4(FBN2):c.2736T>C (p.Asn912=)
|
rs760088310
|
|
NM_001999.4(FBN2):c.2740G>T (p.Ala914Ser)
|
rs370312107
|
|
NM_001999.4(FBN2):c.2773G>A (p.Gly925Arg)
|
rs111405756
|
|
NM_001999.4(FBN2):c.2773G>T (p.Gly925Ter)
|
rs111405756
|
|
NM_001999.4(FBN2):c.2779G>T (p.Ala927Ser)
|
rs863223559
|
|
NM_001999.4(FBN2):c.2782T>G (p.Trp928Gly)
|
|
|
NM_001999.4(FBN2):c.2787G>A (p.Gly929=)
|
|
|
NM_001999.4(FBN2):c.2791C>T (p.Pro931Ser)
|
rs779579749
|
|
NM_001999.4(FBN2):c.2800C>T (p.Arg934Trp)
|
|
|
NM_001999.4(FBN2):c.2809C>G (p.Leu937Val)
|
|
|
NM_001999.4(FBN2):c.2812+14T>C
|
|
|
NM_001999.4(FBN2):c.2812+9C>A
|
rs751293821
|
|
NM_001999.4(FBN2):c.2813A>G (p.Asp938Gly)
|
|
|
NM_001999.4(FBN2):c.2819C>T (p.Ala940Val)
|
rs1751304507
|
|
NM_001999.4(FBN2):c.2822G>A (p.Cys941Tyr)
|
|
|
NM_001999.4(FBN2):c.2825C>G (p.Pro942Arg)
|
rs1751304438
|
|
NM_001999.4(FBN2):c.2827A>G (p.Arg943Gly)
|
rs863223560
|
|
NM_001999.4(FBN2):c.282C>T (p.His94=)
|
|
|
NM_001999.4(FBN2):c.2839A>C (p.Arg947=)
|
rs752949752
|
|
NM_001999.4(FBN2):c.2839A>G (p.Arg947Gly)
|
|
|
NM_001999.4(FBN2):c.2855C>G (p.Thr952Arg)
|
rs766590294
|
|
NM_001999.4(FBN2):c.2856G>A (p.Thr952=)
|
rs556038110
|
|
NM_001999.4(FBN2):c.2863+13T>G
|
|
|
NM_001999.4(FBN2):c.2863+19G>A
|
|
|
NM_001999.4(FBN2):c.2863+5G>A
|
|
|
NM_001999.4(FBN2):c.2863+9A>G
|
|
|
NM_001999.4(FBN2):c.2864-15T>C
|
|
|
NM_001999.4(FBN2):c.2864-19T>G
|
rs2126919979
|
|
NM_001999.4(FBN2):c.286T>C (p.Tyr96His)
|
|
|
NM_001999.4(FBN2):c.2879A>G (p.Glu960Gly)
|
|
|
NM_001999.4(FBN2):c.287_289del (p.Tyr96del)
|
rs555068280
|
|
NM_001999.4(FBN2):c.2882T>A (p.Val961Glu)
|
rs1025184275
|
|
NM_001999.4(FBN2):c.2886C>T (p.Phe962=)
|
rs972172170
|
|
NM_001999.4(FBN2):c.2890G>T (p.Gly964Cys)
|
rs2126919911
|
|
NM_001999.4(FBN2):c.2891G>A (p.Gly964Asp)
|
rs1554124089
|
|
NM_001999.4(FBN2):c.2892C>T (p.Gly964=)
|
|
|
NM_001999.4(FBN2):c.2909G>A (p.Arg970His)
|
rs368402648
|
|
NM_001999.4(FBN2):c.2909G>T (p.Arg970Leu)
|
|
|
NM_001999.4(FBN2):c.2921_2989+510delinsCATA
|
|
|
NM_001999.4(FBN2):c.2925G>A (p.Lys975=)
|
|
|
NM_001999.4(FBN2):c.2926G>A (p.Gly976Arg)
|
rs1751283602
|
|
NM_001999.4(FBN2):c.2931T>C (p.Ser977=)
|
|
|
NM_001999.4(FBN2):c.2945G>A (p.Cys982Tyr)
|
rs1057519321
|
|
NM_001999.4(FBN2):c.2945G>T (p.Cys982Phe)
|
rs1057519321
|
|
NM_001999.4(FBN2):c.2957T>C (p.Leu986Pro)
|
rs1751282501
|
|
NM_001999.4(FBN2):c.295C>G (p.Pro99Ala)
|
rs1756849074
|
|
NM_001999.4(FBN2):c.2961G>A (p.Thr987=)
|
rs760390469
|
|
NM_001999.4(FBN2):c.2968G>A (p.Gly990Arg)
|
rs749854367
|
|
NM_001999.4(FBN2):c.2977C>T (p.Arg993Cys)
|
rs752905724
|
|
NM_001999.4(FBN2):c.2989+13C>A
|
|
|
NM_001999.4(FBN2):c.2990-7G>C
|
rs1245936560
|
|
NM_001999.4(FBN2):c.2993T>A (p.Ile998Asn)
|
|
|
NM_001999.4(FBN2):c.2994T>A (p.Ile998=)
|
|
|
NM_001999.4(FBN2):c.2996G>A (p.Arg999His)
|
rs1342942240
|
|
NM_001999.4(FBN2):c.2997C>T (p.Arg999=)
|
rs1751155993
|
|
NM_001999.4(FBN2):c.3003G>C (p.Glu1001Asp)
|
rs1064797312
|
|
NM_001999.4(FBN2):c.3010T>C (p.Tyr1004His)
|
|
|
NM_001999.4(FBN2):c.3012C>T (p.Tyr1004=)
|
|
|
NM_001999.4(FBN2):c.3018G>A (p.Lys1006=)
|
|
|
NM_001999.4(FBN2):c.3019T>C (p.Trp1007Arg)
|
|
|
NM_001999.4(FBN2):c.3039C>G (p.Ile1013Met)
|
rs1388119592
|
|
NM_001999.4(FBN2):c.3045C>G (p.Pro1015=)
|
rs371640952
|
|
NM_001999.4(FBN2):c.3046G>T (p.Val1016Phe)
|
|
|
NM_001999.4(FBN2):c.3049C>A (p.Pro1017Thr)
|
rs375187779
|
|
NM_001999.4(FBN2):c.3057G>C (p.Lys1019Asn)
|
rs863223561
|
|
NM_001999.4(FBN2):c.3057G>T (p.Lys1019Asn)
|
rs863223561
|
|
NM_001999.4(FBN2):c.3058T>C (p.Phe1020Leu)
|
rs984782865
|
|
NM_001999.4(FBN2):c.305A>G (p.Lys102Arg)
|
rs1756848859
|
|
NM_001999.4(FBN2):c.3062G>A (p.Arg1021His)
|
rs139620380
|
|
NM_001999.4(FBN2):c.3062G>C (p.Arg1021Pro)
|
rs139620380
|
|
NM_001999.4(FBN2):c.3066G>A (p.Met1022Ile)
|
rs952236163
|
|
NM_001999.4(FBN2):c.3092C>A (p.Ala1031Glu)
|
rs754884110
|
|
NM_001999.4(FBN2):c.3093G>C (p.Ala1031=)
|
rs528529593
|
|
NM_001999.4(FBN2):c.309G>T (p.Thr103=)
|
|
|
NM_001999.4(FBN2):c.3106G>C (p.Glu1036Gln)
|
rs773473369
|
|
NM_001999.4(FBN2):c.3107A>G (p.Glu1036Gly)
|
|
|
NM_001999.4(FBN2):c.311T>A (p.Leu104His)
|
|
|
NM_001999.4(FBN2):c.3126A>T (p.Lys1042Asn)
|
|
|
NM_001999.4(FBN2):c.3128C>A (p.Pro1043His)
|
|
|
NM_001999.4(FBN2):c.3145G>C (p.Glu1049Gln)
|
rs771853346
|
|
NM_001999.4(FBN2):c.3147G>A (p.Glu1049=)
|
rs1356177204
|
|
NM_001999.4(FBN2):c.3148A>C (p.Thr1050Pro)
|
|
|
NM_001999.4(FBN2):c.3160C>T (p.Arg1054Cys)
|
rs869025427
|
|
NM_001999.4(FBN2):c.3161G>A (p.Arg1054His)
|
rs753760095
|
|
NM_001999.4(FBN2):c.3161G>T (p.Arg1054Leu)
|
rs753760095
|
|
NM_001999.4(FBN2):c.3162C>A (p.Arg1054=)
|
|
|
NM_001999.4(FBN2):c.3196dup (p.Thr1066fs)
|
rs1554123702
|
|
NM_001999.4(FBN2):c.3198T>G (p.Thr1066=)
|
rs2126913781
|
|
NM_001999.4(FBN2):c.319G>A (p.Gly107Arg)
|
rs2112809157
|
|
NM_001999.4(FBN2):c.3202C>T (p.Arg1068Trp)
|
|
|
NM_001999.4(FBN2):c.3203G>A (p.Arg1068Gln)
|
rs563921589
|
|
NM_001999.4(FBN2):c.3207A>G (p.Pro1069=)
|
|
|
NM_001999.4(FBN2):c.320G>A (p.Gly107Glu)
|
|
|
NM_001999.4(FBN2):c.3211T>C (p.Tyr1071His)
|
rs2126913738
|
|
NM_001999.4(FBN2):c.3215A>G (p.Lys1072Arg)
|
|
|
NM_001999.4(FBN2):c.3217+12C>A
|
rs375688726
|
|
NM_001999.4(FBN2):c.3217+12C>T
|
|
|
NM_001999.4(FBN2):c.3217+13G>C
|
rs572013507
|
|
NM_001999.4(FBN2):c.3217+19C>T
|
|
|
NM_001999.4(FBN2):c.3217+1G>A
|
rs2126913719
|
|
NM_001999.4(FBN2):c.3217+6T>C
|
|
|
NM_001999.4(FBN2):c.3217+8C>A
|
rs1554123700
|
|
NM_001999.4(FBN2):c.3218-13A>T
|
rs200543836
|
|
NM_001999.4(FBN2):c.3218-4T>C
|
|
|
NM_001999.4(FBN2):c.3218-5T>G
|
rs1554123647
|
|
NM_001999.4(FBN2):c.3219C>T (p.Asp1073=)
|
|
|
NM_001999.4(FBN2):c.3220A>G (p.Ile1074Val)
|
rs1218249269
|
|
NM_001999.4(FBN2):c.3222C>A (p.Ile1074=)
|
rs1345516642
|
|
NM_001999.4(FBN2):c.3228A>C (p.Glu1076Asp)
|
rs1751116346
|
|
NM_001999.4(FBN2):c.3246G>A (p.Gly1082=)
|
|
|
NM_001999.4(FBN2):c.3259G>C (p.Gly1087Arg)
|
rs1581230766
|
|
NM_001999.4(FBN2):c.3260G>A (p.Gly1087Glu)
|
rs1751115198
|
|
NM_001999.4(FBN2):c.3285C>T (p.Ser1095=)
|
|
|
NM_001999.4(FBN2):c.3290A>G (p.Lys1097Arg)
|
|
|
NM_001999.4(FBN2):c.3293G>A (p.Cys1098Tyr)
|
|
|
NM_001999.4(FBN2):c.3298T>A (p.Cys1100Ser)
|
rs2126912100
|
|
NM_001999.4(FBN2):c.3298T>G (p.Cys1100Gly)
|
|
|
NM_001999.4(FBN2):c.3321C>T (p.Asp1107=)
|
|
|
NM_001999.4(FBN2):c.3322A>G (p.Met1108Val)
|
rs148127874
|
|
NM_001999.4(FBN2):c.3331A>G (p.Arg1111Gly)
|
rs1751112929
|
|
NM_001999.4(FBN2):c.3335A>G (p.Asn1112Ser)
|
|
|
NM_001999.4(FBN2):c.3343+12C>G
|
|
|
NM_001999.4(FBN2):c.3343+12C>T
|
rs2126911962
|
|
NM_001999.4(FBN2):c.3344-12C>T
|
|
|
NM_001999.4(FBN2):c.3344-13C>A
|
|
|
NM_001999.4(FBN2):c.3344-6A>T
|
|
|
NM_001999.4(FBN2):c.3345C>G (p.Asp1115Glu)
|
|
|
NM_001999.4(FBN2):c.3346A>G (p.Ile1116Val)
|
|
|
NM_001999.4(FBN2):c.3351C>G (p.Asp1117Glu)
|
|
|
NM_001999.4(FBN2):c.3352G>A (p.Glu1118Lys)
|
rs1348701377
|
|
NM_001999.4(FBN2):c.3354G>A (p.Glu1118=)
|
|
|
NM_001999.4(FBN2):c.3367C>T (p.Pro1123Ser)
|
rs764719151
|
|
NM_001999.4(FBN2):c.336C>T (p.Val112=)
|
|
|
NM_001999.4(FBN2):c.337+12G>T
|
rs2112809114
|
|
NM_001999.4(FBN2):c.3372C>T (p.Asp1124=)
|
|
|
NM_001999.4(FBN2):c.338-18C>T
|
|
|
NM_001999.4(FBN2):c.338-4A>G
|
rs1756678272
|
|
NM_001999.4(FBN2):c.3384T>C (p.Ser1128=)
|
|
|
NM_001999.4(FBN2):c.3387A>G (p.Gly1129=)
|
|
|
NM_001999.4(FBN2):c.338C>T (p.Pro113Leu)
|
|
|
NM_001999.4(FBN2):c.3390C>A (p.Ile1130=)
|
|
|
NM_001999.4(FBN2):c.3398A>G (p.Asn1133Ser)
|
rs2126903780
|
|
NM_001999.4(FBN2):c.3413T>G (p.Phe1138Cys)
|
|
|
NM_001999.4(FBN2):c.3421G>A (p.Glu1141Lys)
|
|
|
NM_001999.4(FBN2):c.3424T>G (p.Cys1142Gly)
|
rs1750918931
|
|
NM_001999.4(FBN2):c.3428T>C (p.Phe1143Ser)
|
rs1750918793
|
|
NM_001999.4(FBN2):c.3437A>G (p.Tyr1146Cys)
|
rs1750918319
|
|
NM_001999.4(FBN2):c.3441A>C (p.Glu1147Asp)
|
rs1750918059
|
|
NM_001999.4(FBN2):c.3446G>C (p.Gly1149Ala)
|
|
|
NM_001999.4(FBN2):c.3451A>G (p.Met1151Val)
|
rs1042256829
|
|
NM_001999.4(FBN2):c.3452T>C (p.Met1151Thr)
|
|
|
NM_001999.4(FBN2):c.3455T>C (p.Met1152Thr)
|
|
|
NM_001999.4(FBN2):c.3456G>A (p.Met1152Ile)
|
rs863223565
|
|
NM_001999.4(FBN2):c.3467G>T (p.Cys1156Phe)
|
rs1206843725
|
|
NM_001999.4(FBN2):c.3469A>G (p.Met1157Val)
|
rs876661190
|
|
NM_001999.4(FBN2):c.3472+1G>A
|
rs1554123136
|
|
NM_001999.4(FBN2):c.3472+2T>C
|
rs2126903614
|
|
NM_001999.4(FBN2):c.3472+3A>G
|
rs1750917005
|
|
NM_001999.4(FBN2):c.3472+9C>T
|
rs372520452
|
|
NM_001999.4(FBN2):c.3473-15G>A
|
|
|
NM_001999.4(FBN2):c.3473-16C>T
|
|
|
NM_001999.4(FBN2):c.3474C>T (p.Asp1158=)
|
|
|
NM_001999.4(FBN2):c.3480C>A (p.Asp1160Glu)
|
|
|
NM_001999.4(FBN2):c.3480C>T (p.Asp1160=)
|
rs142323824
|
|
NM_001999.4(FBN2):c.3481G>A (p.Glu1161Lys)
|
rs1554123065
|
|
NM_001999.4(FBN2):c.3482A>G (p.Glu1161Gly)
|
|
|
NM_001999.4(FBN2):c.3484T>C (p.Cys1162Arg)
|
rs1750894751
|
|
NM_001999.4(FBN2):c.3489A>C (p.Glu1163Asp)
|
|
|
NM_001999.4(FBN2):c.3490C>T (p.Arg1164Cys)
|
rs886039059
|
|
NM_001999.4(FBN2):c.3491G>A (p.Arg1164His)
|
rs1297011367
|
|
NM_001999.4(FBN2):c.3491G>T (p.Arg1164Leu)
|
|
|
NM_001999.4(FBN2):c.349_352del (p.Asn117fs)
|
|
|
NM_001999.4(FBN2):c.3501C>G (p.Leu1167=)
|
rs2126902161
|
|
NM_001999.4(FBN2):c.3505T>C (p.Cys1169Arg)
|
|
|
NM_001999.4(FBN2):c.350A>G (p.Asn117Ser)
|
rs1756677980
|
|
NM_001999.4(FBN2):c.3515G>A (p.Gly1172Asp)
|
rs931046977
|
|
NM_001999.4(FBN2):c.3535G>T (p.Gly1179Cys)
|
|
|
NM_001999.4(FBN2):c.3570G>A (p.Glu1190=)
|
rs2126902008
|
|
NM_001999.4(FBN2):c.3584G>C (p.Arg1195Pro)
|
|
|
NM_001999.4(FBN2):c.3593G>A (p.Cys1198Tyr)
|
rs863223567
|
|
NM_001999.4(FBN2):c.3594T>G (p.Cys1198Trp)
|
|
|
NM_001999.4(FBN2):c.3597G>C (p.Val1199=)
|
|
|
NM_001999.4(FBN2):c.3598+6T>G
|
|
|
NM_001999.4(FBN2):c.3599-13G>T
|
|
|
NM_001999.4(FBN2):c.360A>T (p.Gly120=)
|
|
|
NM_001999.4(FBN2):c.3611G>T (p.Cys1204Phe)
|
rs2126898748
|
|
NM_001999.4(FBN2):c.3614C>A (p.Ser1205Tyr)
|
rs1389689622
|
|
NM_001999.4(FBN2):c.3617T>C (p.Leu1206Pro)
|
rs1581224796
|
|
NM_001999.4(FBN2):c.3626A>G (p.Asn1209Ser)
|
|
|
NM_001999.4(FBN2):c.3632G>A (p.Cys1211Tyr)
|
rs2126898679
|
|
NM_001999.4(FBN2):c.363T>C (p.Asp121=)
|
|
|
NM_001999.4(FBN2):c.3654C>G (p.Asn1218Lys)
|
|
|
NM_001999.4(FBN2):c.3668A>G (p.Tyr1223Cys)
|
|
|
NM_001999.4(FBN2):c.3680G>A (p.Cys1227Tyr)
|
rs1750830797
|
|
NM_001999.4(FBN2):c.3689G>C (p.Gly1230Ala)
|
rs1047464870
|
|
NM_001999.4(FBN2):c.3690A>T (p.Gly1230=)
|
rs774807410
|
|
NM_001999.4(FBN2):c.36C>T (p.Tyr12=)
|
rs1581380471
|
|
NM_001999.4(FBN2):c.3710G>A (p.Arg1237His)
|
rs142185964
|
|
NM_001999.4(FBN2):c.3711C>T (p.Arg1237=)
|
|
|
NM_001999.4(FBN2):c.3713A>T (p.Gln1238Leu)
|
|
|
NM_001999.4(FBN2):c.3715G>A (p.Gly1239Ser)
|
rs778784375
|
|
NM_001999.4(FBN2):c.3719G>A (p.Cys1240Tyr)
|
rs1554122896
|
|
NM_001999.4(FBN2):c.3724G>A (p.Asp1242Asn)
|
|
|
NM_001999.4(FBN2):c.3725-15A>G
|
rs587776519
|
|
NM_001999.4(FBN2):c.3725-18G>T
|
|
|
NM_001999.4(FBN2):c.3725-3C>T
|
|
|
NM_001999.4(FBN2):c.3727A>G (p.Ile1243Val)
|
|
|
NM_001999.4(FBN2):c.3728T>C (p.Ile1243Thr)
|
rs1306804578
|
|
NM_001999.4(FBN2):c.3736T>C (p.Cys1246Arg)
|
rs1554122857
|
|
NM_001999.4(FBN2):c.3736T>G (p.Cys1246Gly)
|
rs1554122857
|
|
NM_001999.4(FBN2):c.3737G>A (p.Cys1246Tyr)
|
|
|
NM_001999.4(FBN2):c.3758G>A (p.Cys1253Tyr)
|
rs137852825
|
|
NM_001999.4(FBN2):c.3761A>G (p.Asp1254Gly)
|
rs1750812827
|
|
NM_001999.4(FBN2):c.3769T>G (p.Cys1257Gly)
|
rs1750812513
|
|
NM_001999.4(FBN2):c.3770G>A (p.Cys1257Tyr)
|
|
|
NM_001999.4(FBN2):c.3773C>G (p.Thr1258Arg)
|
|
|
NM_001999.4(FBN2):c.3776A>T (p.Asn1259Ile)
|
rs1554122848
|
|
NM_001999.4(FBN2):c.3783G>C (p.Glu1261Asp)
|
|
|
NM_001999.4(FBN2):c.3786A>C (p.Gly1262=)
|
|
|
NM_001999.4(FBN2):c.3790T>A (p.Tyr1264Asn)
|
|
|
NM_001999.4(FBN2):c.3803G>C (p.Cys1268Ser)
|
rs1750811749
|
|
NM_001999.4(FBN2):c.3803G>T (p.Cys1268Phe)
|
rs1750811749
|
|
NM_001999.4(FBN2):c.3815A>C (p.Tyr1272Ser)
|
|
|
NM_001999.4(FBN2):c.382A>G (p.Asn128Asp)
|
|
|
NM_001999.4(FBN2):c.3830A>T (p.Asp1277Val)
|
|
|
NM_001999.4(FBN2):c.3835A>G (p.Arg1279Gly)
|
rs1561776564
|
|
NM_001999.4(FBN2):c.3847+5A>G
|
rs1444917250
|
|
NM_001999.4(FBN2):c.3848-10G>A
|
rs140017238
|
|
NM_001999.4(FBN2):c.3848-10G>T
|
rs140017238
|
|
NM_001999.4(FBN2):c.3849C>T (p.Asp1283=)
|
rs983684093
|
|
NM_001999.4(FBN2):c.3866A>G (p.Asn1289Ser)
|
|
|
NM_001999.4(FBN2):c.3869A>G (p.Asn1290Ser)
|
rs747182286
|
|
NM_001999.4(FBN2):c.3871C>A (p.Pro1291Thr)
|
|
|
NM_001999.4(FBN2):c.3885T>C (p.Asp1295=)
|
|
|
NM_001999.4(FBN2):c.3888C>T (p.Gly1296=)
|
|
|
NM_001999.4(FBN2):c.3889G>T (p.Gly1297Cys)
|
rs755489065
|
|
NM_001999.4(FBN2):c.3900C>A (p.Thr1300=)
|
|
|
NM_001999.4(FBN2):c.3900C>T (p.Thr1300=)
|
rs754193286
|
|
NM_001999.4(FBN2):c.3909T>C (p.Pro1303=)
|
|
|
NM_001999.4(FBN2):c.3960G>T (p.Met1320Ile)
|
rs1554122803
|
|
NM_001999.4(FBN2):c.3967T>C (p.Cys1323Arg)
|
|
|
NM_001999.4(FBN2):c.3967T>G (p.Cys1323Gly)
|
rs1581223990
|
|
NM_001999.4(FBN2):c.3973+17A>G
|
|
|
NM_001999.4(FBN2):c.3973+7A>G
|
|
|
NM_001999.4(FBN2):c.3974-19T>A
|
rs112950479
|
|
NM_001999.4(FBN2):c.3974-3T>A
|
|
|
NM_001999.4(FBN2):c.3974-7T>G
|
|
|
NM_001999.4(FBN2):c.3974-9A>G
|
|
|
NM_001999.4(FBN2):c.3982G>A (p.Glu1328Lys)
|
|
|
NM_001999.4(FBN2):c.3984A>T (p.Glu1328Asp)
|
rs1394998823
|
|
NM_001999.4(FBN2):c.3986G>A (p.Cys1329Tyr)
|
rs1750792792
|
|
NM_001999.4(FBN2):c.4002T>C (p.Asn1334=)
|
rs759408247
|
|
NM_001999.4(FBN2):c.4017G>A (p.Gly1339=)
|
|
|
NM_001999.4(FBN2):c.4032A>G (p.Thr1344=)
|
|
|
NM_001999.4(FBN2):c.4035G>C (p.Lys1345Asn)
|
|
|
NM_001999.4(FBN2):c.4038A>T (p.Gly1346=)
|
|
|
NM_001999.4(FBN2):c.4040C>T (p.Ser1347Phe)
|
|
|
NM_001999.4(FBN2):c.4042T>C (p.Phe1348Leu)
|
|
|
NM_001999.4(FBN2):c.4044C>T (p.Phe1348=)
|
|
|
NM_001999.4(FBN2):c.4053C>G (p.His1351Gln)
|
|
|
NM_001999.4(FBN2):c.4056T>G (p.Cys1352Trp)
|
rs1479056828
|
|
NM_001999.4(FBN2):c.4064G>A (p.Gly1355Asp)
|
|
|
NM_001999.4(FBN2):c.4089A>C (p.Thr1363=)
|
|
|
NM_001999.4(FBN2):c.4090G>C (p.Gly1364Arg)
|
rs1750789808
|
|
NM_001999.4(FBN2):c.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.4112G>T (p.Cys1371Phe)
|
|
|
NM_001999.4(FBN2):c.4118T>C (p.Ile1373Thr)
|
rs971727405
|
|
NM_001999.4(FBN2):c.411A>G (p.Ile137Met)
|
|
|
NM_001999.4(FBN2):c.4127A>G (p.His1376Arg)
|
rs1255550274
|
|
NM_001999.4(FBN2):c.4135G>A (p.Asp1379Asn)
|
|
|
NM_001999.4(FBN2):c.4135G>C (p.Asp1379His)
|
|
|
NM_001999.4(FBN2):c.4147T>C (p.Ser1383Pro)
|
|
|
NM_001999.4(FBN2):c.4149A>G (p.Ser1383=)
|
|
|
NM_001999.4(FBN2):c.4151G>A (p.Cys1384Tyr)
|
rs794727560
|
|
NM_001999.4(FBN2):c.4177T>C (p.Cys1393Arg)
|
|
|
NM_001999.4(FBN2):c.4184G>A (p.Cys1395Tyr)
|
rs886038935
|
|
NM_001999.4(FBN2):c.4198A>G (p.Ile1400Val)
|
rs1750732608
|
|
NM_001999.4(FBN2):c.4201G>A (p.Gly1401Arg)
|
rs1554122552
|
|
NM_001999.4(FBN2):c.4201G>C (p.Gly1401Arg)
|
rs1554122552
|
|
NM_001999.4(FBN2):c.4203A>G (p.Gly1401=)
|
|
|
NM_001999.4(FBN2):c.4222+1G>A
|
rs1060503498
|
|
NM_001999.4(FBN2):c.4222+5G>A
|
rs1554122550
|
|
NM_001999.4(FBN2):c.4222G>A (p.Asp1408Asn)
|
|
|
NM_001999.4(FBN2):c.4228G>A (p.Asp1410Asn)
|
rs1478574969
|
|
NM_001999.4(FBN2):c.4230C>A (p.Asp1410Glu)
|
|
|
NM_001999.4(FBN2):c.4230C>T (p.Asp1410=)
|
rs138289440
|
|
NM_001999.4(FBN2):c.4231G>A (p.Glu1411Lys)
|
rs866719857
|
|
NM_001999.4(FBN2):c.4244G>T (p.Gly1415Val)
|
rs2126889179
|
|
NM_001999.4(FBN2):c.4247C>A (p.Thr1416Asn)
|
rs1750669779
|
|
NM_001999.4(FBN2):c.4247C>T (p.Thr1416Ile)
|
rs1750669779
|
|
NM_001999.4(FBN2):c.4254G>A (p.Gln1418=)
|
|
|
NM_001999.4(FBN2):c.425G>C (p.Gly142Ala)
|
rs1060503506
|
|
NM_001999.4(FBN2):c.4261A>C (p.Ile1421Leu)
|
rs863223607
|
|
NM_001999.4(FBN2):c.4268C>T (p.Ala1423Val)
|
|
|
NM_001999.4(FBN2):c.4271A>C (p.Gln1424Pro)
|
|
|
NM_001999.4(FBN2):c.4273T>C (p.Cys1425Arg)
|
|
|
NM_001999.4(FBN2):c.4276G>A (p.Val1426Ile)
|
|
|
NM_001999.4(FBN2):c.4283C>T (p.Thr1428Ile)
|
rs367961012
|
|
NM_001999.4(FBN2):c.4285C>A (p.Pro1429Thr)
|
rs1060503511
|
|
NM_001999.4(FBN2):c.4289G>A (p.Gly1430Asp)
|
|
|
NM_001999.4(FBN2):c.4292C>T (p.Ser1431Leu)
|
|
|
NM_001999.4(FBN2):c.4300T>G (p.Cys1434Gly)
|
|
|
NM_001999.4(FBN2):c.4301G>A (p.Cys1434Tyr)
|
|
|
NM_001999.4(FBN2):c.4301G>C (p.Cys1434Ser)
|
rs1750667332
|
|
NM_001999.4(FBN2):c.4302T>C (p.Cys1434=)
|
rs2126889007
|
|
NM_001999.4(FBN2):c.4303G>T (p.Ala1435Ser)
|
|
|
NM_001999.4(FBN2):c.4306T>C (p.Cys1436Arg)
|
rs1060503510
|
|
NM_001999.4(FBN2):c.4322C>T (p.Thr1441Ile)
|
rs1750666696
|
|
NM_001999.4(FBN2):c.4323T>C (p.Thr1441=)
|
|
|
NM_001999.4(FBN2):c.4340G>A (p.Cys1447Tyr)
|
rs2126888942
|
|
NM_001999.4(FBN2):c.4341C>T (p.Cys1447=)
|
|
|
NM_001999.4(FBN2):c.4345+19G>A
|
rs886038503
|
|
NM_001999.4(FBN2):c.4346-16T>A
|
|
|
NM_001999.4(FBN2):c.4346-2A>G
|
rs587776518
|
|
NM_001999.4(FBN2):c.434C>A (p.Ser145Ter)
|
|
|
NM_001999.4(FBN2):c.435A>G (p.Ser145=)
|
|
|
NM_001999.4(FBN2):c.436+13C>T
|
|
|
NM_001999.4(FBN2):c.436+4T>G
|
|
|
NM_001999.4(FBN2):c.4360G>A (p.Ala1454Thr)
|
|
|
NM_001999.4(FBN2):c.437-12T>C
|
|
|
NM_001999.4(FBN2):c.437-1G>A
|
rs1180913191
|
|
NM_001999.4(FBN2):c.4382A>G (p.Glu1461Gly)
|
rs1750620648
|
|
NM_001999.4(FBN2):c.4386C>T (p.Asn1462=)
|
|
|
NM_001999.4(FBN2):c.4390C>G (p.Gln1464Glu)
|
rs1750620267
|
|
NM_001999.4(FBN2):c.4397T>G (p.Leu1466Arg)
|
|
|
NM_001999.4(FBN2):c.4404C>T (p.Val1468=)
|
|
|
NM_001999.4(FBN2):c.4410T>G (p.Gly1470=)
|
|
|
NM_001999.4(FBN2):c.4413A>G (p.Ala1471=)
|
|
|
NM_001999.4(FBN2):c.4423G>A (p.Glu1475Lys)
|
|
|
NM_001999.4(FBN2):c.4442C>T (p.Thr1481Ile)
|
|
|
NM_001999.4(FBN2):c.4444C>G (p.Pro1482Ala)
|
|
|
NM_001999.4(FBN2):c.4466G>A (p.Cys1489Tyr)
|
|
|
NM_001999.4(FBN2):c.4471+6T>G
|
|
|
NM_001999.4(FBN2):c.4471+9C>A
|
|
|
NM_001999.4(FBN2):c.4472-12del
|
rs758812755
|
|
NM_001999.4(FBN2):c.4472-12dup
|
|
|
NM_001999.4(FBN2):c.4472-18T>A
|
rs200285828
|
|
NM_001999.4(FBN2):c.4472-18T>G
|
|
|
NM_001999.4(FBN2):c.4472-19T>A
|
|
|
NM_001999.4(FBN2):c.4472-2A>G
|
rs1554121102
|
|
NM_001999.4(FBN2):c.4472-3C>T
|
|
|
NM_001999.4(FBN2):c.4472-7T>C
|
|
|
NM_001999.4(FBN2):c.4485C>T (p.Cys1495=)
|
|
|
NM_001999.4(FBN2):c.4487C>T (p.Ser1496Phe)
|
|
|
NM_001999.4(FBN2):c.449G>T (p.Ser150Ile)
|
rs779482726
|
|
NM_001999.4(FBN2):c.4513A>G (p.Thr1505Ala)
|
rs1581212696
|
|
NM_001999.4(FBN2):c.4516T>C (p.Cys1506Arg)
|
rs1750289332
|
|
NM_001999.4(FBN2):c.4545C>T (p.Cys1515=)
|
rs1348263135
|
|
NM_001999.4(FBN2):c.4563T>C (p.Tyr1521=)
|
rs1434367982
|
|
NM_001999.4(FBN2):c.4571A>G (p.Asp1524Gly)
|
|
|
NM_001999.4(FBN2):c.4573A>G (p.Arg1525Gly)
|
|
|
NM_001999.4(FBN2):c.4577C>G (p.Thr1526Arg)
|
rs2126854542
|
|
NM_001999.4(FBN2):c.4584G>A (p.Gly1528=)
|
rs1554121089
|
|
NM_001999.4(FBN2):c.4590T>C (p.Cys1530=)
|
rs1581212624
|
|
NM_001999.4(FBN2):c.4592_4594+3del
|
rs2126854512
|
|
NM_001999.4(FBN2):c.4594+3A>G
|
|
|
NM_001999.4(FBN2):c.4594G>A (p.Asp1532Asn)
|
rs863223574
|
|
NM_001999.4(FBN2):c.4595-4C>A
|
|
|
NM_001999.4(FBN2):c.4620A>C (p.Ile1540=)
|
|
|
NM_001999.4(FBN2):c.4627G>A (p.Val1543Ile)
|
rs1554121038
|
|
NM_001999.4(FBN2):c.4649C>T (p.Thr1550Met)
|
|
|
NM_001999.4(FBN2):c.4657C>G (p.Arg1553Gly)
|
|
|
NM_001999.4(FBN2):c.4658G>C (p.Arg1553Pro)
|
|
|
NM_001999.4(FBN2):c.4659C>T (p.Arg1553=)
|
|
|
NM_001999.4(FBN2):c.4661A>T (p.Tyr1554Phe)
|
|
|
NM_001999.4(FBN2):c.4665G>A (p.Glu1555=)
|
|
|
NM_001999.4(FBN2):c.4674C>T (p.Cys1558=)
|
|
|
NM_001999.4(FBN2):c.4677A>G (p.Pro1559=)
|
rs1581212135
|
|
NM_001999.4(FBN2):c.4681G>A (p.Asp1561Asn)
|
|
|
NM_001999.4(FBN2):c.4696C>A (p.Pro1566Thr)
|
|
|
NM_001999.4(FBN2):c.4709G>C (p.Gly1570Ala)
|
|
|
NM_001999.4(FBN2):c.4709G>T (p.Gly1570Val)
|
|
|
NM_001999.4(FBN2):c.4710T>C (p.Gly1570=)
|
|
|
NM_001999.4(FBN2):c.4714G>T (p.Val1572Phe)
|
rs535517270
|
|
NM_001999.4(FBN2):c.4717+8A>G
|
rs1750262267
|
|
NM_001999.4(FBN2):c.4718-6C>T
|
|
|
NM_001999.4(FBN2):c.471G>A (p.Gly157=)
|
|
|
NM_001999.4(FBN2):c.4727T>C (p.Val1576Ala)
|
rs1581208599
|
|
NM_001999.4(FBN2):c.4738T>C (p.Tyr1580His)
|
rs1060503508
|
|
NM_001999.4(FBN2):c.4748T>C (p.Phe1583Ser)
|
|
|
NM_001999.4(FBN2):c.4757G>A (p.Arg1586Gln)
|
rs143195229
|
|
NM_001999.4(FBN2):c.4767G>T (p.Gly1589=)
|
rs1750089730
|
|
NM_001999.4(FBN2):c.4770T>G (p.Ser1590Arg)
|
rs1295579995
|
|
NM_001999.4(FBN2):c.4771C>G (p.Leu1591Val)
|
|
|
NM_001999.4(FBN2):c.4773G>A (p.Leu1591=)
|
rs753387547
|
|
NM_001999.4(FBN2):c.4815A>C (p.Ser1605=)
|
rs377657220
|
|
NM_001999.4(FBN2):c.4828C>T (p.Leu1610=)
|
|
|
NM_001999.4(FBN2):c.4829T>C (p.Leu1610Pro)
|
rs886038891
|
|
NM_001999.4(FBN2):c.4835A>G (p.Lys1612Arg)
|
rs2126847622
|
|
NM_001999.4(FBN2):c.4838C>G (p.Ala1613Gly)
|
|
|
NM_001999.4(FBN2):c.4863C>T (p.Cys1621=)
|
|
|
NM_001999.4(FBN2):c.4867C>T (p.Pro1623Ser)
|
rs139830237
|
|
NM_001999.4(FBN2):c.4877G>A (p.Ser1626Asn)
|
|
|
NM_001999.4(FBN2):c.4877G>T (p.Ser1626Ile)
|
rs1403929477
|
|
NM_001999.4(FBN2):c.4879+12G>A
|
|
|
NM_001999.4(FBN2):c.4879+16A>G
|
rs2126847534
|
|
NM_001999.4(FBN2):c.4879A>C (p.Thr1627Pro)
|
rs1561765113
|
|
NM_001999.4(FBN2):c.4880-12A>G
|
rs376111927
|
|
NM_001999.4(FBN2):c.4880-14C>G
|
|
|
NM_001999.4(FBN2):c.4884A>C (p.Glu1628Asp)
|
|
|
NM_001999.4(FBN2):c.4896G>A (p.Leu1632=)
|
|
|
NM_001999.4(FBN2):c.4919G>T (p.Arg1640Ile)
|
|
|
NM_001999.4(FBN2):c.4924A>G (p.Asn1642Asp)
|
|
|
NM_001999.4(FBN2):c.4925A>G (p.Asn1642Ser)
|
|
|
NM_001999.4(FBN2):c.4928C>G (p.Pro1643Arg)
|
rs863223609
|
|
NM_001999.4(FBN2):c.4938C>T (p.Ile1646=)
|
rs773597432
|
|
NM_001999.4(FBN2):c.4948+15T>C
|
|
|
NM_001999.4(FBN2):c.4949-12C>T
|
|
|
NM_001999.4(FBN2):c.4949-17T>C
|
rs2126846281
|
|
NM_001999.4(FBN2):c.4949-19A>C
|
|
|
NM_001999.4(FBN2):c.4949-6T>C
|
|
|
NM_001999.4(FBN2):c.4957G>A (p.Glu1653Lys)
|
|
|
NM_001999.4(FBN2):c.4959A>C (p.Glu1653Asp)
|
rs1554120359
|
|
NM_001999.4(FBN2):c.4971A>G (p.Leu1657=)
|
|
|
NM_001999.4(FBN2):c.4980C>T (p.Leu1660=)
|
|
|
NM_001999.4(FBN2):c.4986G>A (p.Gln1662=)
|
rs1554120357
|
|
NM_001999.4(FBN2):c.5037A>C (p.Gln1679His)
|
rs1554120349
|
|
NM_001999.4(FBN2):c.5045A>G (p.Tyr1682Cys)
|
rs769474473
|
|
NM_001999.4(FBN2):c.5050A>G (p.Ser1684Gly)
|
rs863223577
|
|
NM_001999.4(FBN2):c.5052C>T (p.Ser1684=)
|
|
|
NM_001999.4(FBN2):c.5068T>C (p.Cys1690Arg)
|
rs141401126
|
|
NM_001999.4(FBN2):c.5069G>A (p.Cys1690Tyr)
|
rs1554120340
|
|
NM_001999.4(FBN2):c.5073A>G (p.Glu1691=)
|
|
|
NM_001999.4(FBN2):c.5074+12T>A
|
|
|
NM_001999.4(FBN2):c.5075-10C>G
|
|
|
NM_001999.4(FBN2):c.5075-19A>T
|
|
|
NM_001999.4(FBN2):c.5075-20_5075-17del
|
|
|
NM_001999.4(FBN2):c.5075A>G (p.Asp1692Gly)
|
|
|
NM_001999.4(FBN2):c.5078T>G (p.Ile1693Ser)
|
|
|
NM_001999.4(FBN2):c.5079T>C (p.Ile1693=)
|
|
|
NM_001999.4(FBN2):c.5092G>T (p.Ala1698Ser)
|
|
|
NM_001999.4(FBN2):c.5093C>T (p.Ala1698Val)
|
|
|
NM_001999.4(FBN2):c.5116G>C (p.Gly1706Arg)
|
|
|
NM_001999.4(FBN2):c.5118G>A (p.Gly1706=)
|
rs1284156837
|
|
NM_001999.4(FBN2):c.5119A>T (p.Thr1707Ser)
|
rs1749990667
|
|
NM_001999.4(FBN2):c.514G>A (p.Gly172Arg)
|
|
|
NM_001999.4(FBN2):c.5150G>T (p.Cys1717Phe)
|
rs1554120186
|
|
NM_001999.4(FBN2):c.5183G>T (p.Gly1728Val)
|
|
|
NM_001999.4(FBN2):c.518C>T (p.Thr173Ile)
|
rs147157552
|
|
NM_001999.4(FBN2):c.5200+5_5200+10del
|
|
|
NM_001999.4(FBN2):c.5201-17dup
|
|
|
NM_001999.4(FBN2):c.5201-19T>G
|
|
|
NM_001999.4(FBN2):c.5201-20C>A
|
|
|
NM_001999.4(FBN2):c.523T>C (p.Cys175Arg)
|
rs886038942
|
|
NM_001999.4(FBN2):c.5240C>G (p.Thr1747Ser)
|
|
|
NM_001999.4(FBN2):c.5242A>G (p.Thr1748Ala)
|
|
|
NM_001999.4(FBN2):c.5257T>C (p.Leu1753=)
|
|
|
NM_001999.4(FBN2):c.5279G>C (p.Arg1760Thr)
|
rs748580764
|
|
NM_001999.4(FBN2):c.5283G>T (p.Met1761Ile)
|
rs2126842957
|
|
NM_001999.4(FBN2):c.528A>G (p.Gly176=)
|
|
|
NM_001999.4(FBN2):c.5307C>A (p.Gly1769=)
|
rs755781072
|
|
NM_001999.4(FBN2):c.5312C>T (p.Ala1771Val)
|
rs2126842904
|
|
NM_001999.4(FBN2):c.531A>G (p.Gln177=)
|
rs863223544
|
|
NM_001999.4(FBN2):c.532+16T>G
|
|
|
NM_001999.4(FBN2):c.532+1G>A
|
|
|
NM_001999.4(FBN2):c.533-11T>A
|
|
|
NM_001999.4(FBN2):c.533-14A>G
|
|
|
NM_001999.4(FBN2):c.533-4G>A
|
|
|
NM_001999.4(FBN2):c.5332C>A (p.Pro1778Thr)
|
|
|
NM_001999.4(FBN2):c.5337C>T (p.Cys1779=)
|
rs1307268596
|
|
NM_001999.4(FBN2):c.5339C>G (p.Pro1780Arg)
|
|
|
NM_001999.4(FBN2):c.533C>T (p.Pro178Leu)
|
|
|
NM_001999.4(FBN2):c.5344C>T (p.Pro1782Ser)
|
rs1554120093
|
|
NM_001999.4(FBN2):c.5346A>G (p.Pro1782=)
|
rs2126842864
|
|
NM_001999.4(FBN2):c.5353+10C>A
|
rs113589974
|
|
NM_001999.4(FBN2):c.5353+15C>A
|
|
|
NM_001999.4(FBN2):c.5353+16G>C
|
|
|
NM_001999.4(FBN2):c.5354-4A>G
|
rs2126840686
|
|
NM_001999.4(FBN2):c.535G>C (p.Val179Leu)
|
|
|
NM_001999.4(FBN2):c.5392A>G (p.Thr1798Ala)
|
|
|
NM_001999.4(FBN2):c.5401A>G (p.Ile1801Val)
|
|
|
NM_001999.4(FBN2):c.5420T>C (p.Val1807Ala)
|
|
|
NM_001999.4(FBN2):c.5422+11C>T
|
|
|
NM_001999.4(FBN2):c.5422+14G>A
|
|
|
NM_001999.4(FBN2):c.5422+20G>A
|
|
|
NM_001999.4(FBN2):c.5423-17A>G
|
rs2126839337
|
|
NM_001999.4(FBN2):c.5423-18A>C
|
|
|
NM_001999.4(FBN2):c.5423-18A>G
|
|
|
NM_001999.4(FBN2):c.5423-1G>C
|
|
|
NM_001999.4(FBN2):c.5429A>G (p.Asp1810Gly)
|
rs1749861614
|
|
NM_001999.4(FBN2):c.5443A>T (p.Ile1815Phe)
|
|
|
NM_001999.4(FBN2):c.5446C>G (p.Pro1816Ala)
|
rs1561760487
|
|
NM_001999.4(FBN2):c.5450G>T (p.Gly1817Val)
|
|
|
NM_001999.4(FBN2):c.5462A>G (p.Asn1821Ser)
|
|
|
NM_001999.4(FBN2):c.5472C>T (p.Cys1824=)
|
rs1385121154
|
|
NM_001999.4(FBN2):c.5481G>C (p.Gln1827His)
|
|
|
NM_001999.4(FBN2):c.5484T>G (p.Ile1828Met)
|
|
|
NM_001999.4(FBN2):c.5493C>G (p.Phe1831Leu)
|
|
|
NM_001999.4(FBN2):c.5511A>G (p.Thr1837=)
|
|
|
NM_001999.4(FBN2):c.5534T>G (p.Leu1845Arg)
|
rs1749856162
|
|
NM_001999.4(FBN2):c.5548G>A (p.Asp1850Asn)
|
|
|
NM_001999.4(FBN2):c.5549-8T>C
|
|
|
NM_001999.4(FBN2):c.5550T>C (p.Asp1850=)
|
|
|
NM_001999.4(FBN2):c.5552T>C (p.Ile1851Thr)
|
|
|
NM_001999.4(FBN2):c.5552T>G (p.Ile1851Arg)
|
|
|
NM_001999.4(FBN2):c.5555A>G (p.Asp1852Gly)
|
rs1749848470
|
|
NM_001999.4(FBN2):c.5555A>T (p.Asp1852Val)
|
|
|
NM_001999.4(FBN2):c.5565C>T (p.Ser1855=)
|
|
|
NM_001999.4(FBN2):c.5568T>A (p.Asn1856Lys)
|
rs1201284691
|
|
NM_001999.4(FBN2):c.5569G>A (p.Gly1857Ser)
|
rs2126838900
|
|
NM_001999.4(FBN2):c.5579T>C (p.Leu1860Pro)
|
|
|
NM_001999.4(FBN2):c.5588G>A (p.Arg1863Gln)
|
rs1447600676
|
|
NM_001999.4(FBN2):c.5593G>T (p.Ala1865Ser)
|
rs200681872
|
|
NM_001999.4(FBN2):c.5595A>T (p.Ala1865=)
|
rs1749846586
|
|
NM_001999.4(FBN2):c.5596G>A (p.Asp1866Asn)
|
|
|
NM_001999.4(FBN2):c.5597A>G (p.Asp1866Gly)
|
|
|
NM_001999.4(FBN2):c.5598C>G (p.Asp1866Glu)
|
|
|
NM_001999.4(FBN2):c.55G>A (p.Val19Met)
|
rs1357709072
|
|
NM_001999.4(FBN2):c.5606A>G (p.Asn1869Ser)
|
rs1749845932
|
|
NM_001999.4(FBN2):c.5617A>C (p.Ser1873Arg)
|
rs1060503504
|
|
NM_001999.4(FBN2):c.5623C>T (p.Arg1875Cys)
|
|
|
NM_001999.4(FBN2):c.5632T>C (p.Cys1878Arg)
|
rs1248957106
|
|
NM_001999.4(FBN2):c.5674+12G>A
|
|
|
NM_001999.4(FBN2):c.5674+4A>G
|
rs778011355
|
|
NM_001999.4(FBN2):c.5674+8A>G
|
rs2126838714
|
|
NM_001999.4(FBN2):c.5675-14T>A
|
|
|
NM_001999.4(FBN2):c.5675-17A>G
|
|
|
NM_001999.4(FBN2):c.5675-17A>T
|
|
|
NM_001999.4(FBN2):c.5675-18del
|
|
|
NM_001999.4(FBN2):c.5690T>C (p.Leu1897Ser)
|
|
|
NM_001999.4(FBN2):c.5692G>C (p.Glu1898Gln)
|
rs767932789
|
|
NM_001999.4(FBN2):c.5700T>C (p.Pro1900=)
|
|
|
NM_001999.4(FBN2):c.5704G>T (p.Val1902Phe)
|
|
|
NM_001999.4(FBN2):c.5718C>T (p.Gly1906=)
|
|
|
NM_001999.4(FBN2):c.573C>A (p.Ile191=)
|
|
|
NM_001999.4(FBN2):c.5741G>A (p.Ser1914Asn)
|
|
|
NM_001999.4(FBN2):c.5744A>T (p.Tyr1915Phe)
|
|
|
NM_001999.4(FBN2):c.5745C>T (p.Tyr1915=)
|
|
|
NM_001999.4(FBN2):c.5750G>A (p.Cys1917Tyr)
|
|
|
NM_001999.4(FBN2):c.5754C>A (p.Ile1918=)
|
rs1554119714
|
|
NM_001999.4(FBN2):c.5775T>C (p.Ala1925=)
|
|
|
NM_001999.4(FBN2):c.5780A>C (p.Gln1927Pro)
|
|
|
NM_001999.4(FBN2):c.5789C>A (p.Thr1930Asn)
|
|
|
NM_001999.4(FBN2):c.578C>T (p.Pro193Leu)
|
|
|
NM_001999.4(FBN2):c.579C>G (p.Pro193=)
|
|
|
NM_001999.4(FBN2):c.5800+16G>A
|
|
|
NM_001999.4(FBN2):c.5800+20C>T
|
rs1554119695
|
|
NM_001999.4(FBN2):c.5800+6A>T
|
rs2126838039
|
|
NM_001999.4(FBN2):c.5800+9G>A
|
|
|
NM_001999.4(FBN2):c.5801-18G>T
|
|
|
NM_001999.4(FBN2):c.5801-5T>G
|
rs571282132
|
|
NM_001999.4(FBN2):c.5804_5806del (p.Val1935del)
|
rs1554119538
|
|
NM_001999.4(FBN2):c.5805T>C (p.Val1935=)
|
rs777941578
|
|
NM_001999.4(FBN2):c.5811G>A (p.Glu1937=)
|
|
|
NM_001999.4(FBN2):c.5818C>T (p.Arg1940Trp)
|
rs755672868
|
|
NM_001999.4(FBN2):c.583C>T (p.Arg195Cys)
|
rs1561495424
|
|
NM_001999.4(FBN2):c.584G>A (p.Arg195His)
|
rs746890032
|
|
NM_001999.4(FBN2):c.5868C>T (p.Asn1956=)
|
|
|
NM_001999.4(FBN2):c.5871T>C (p.Cys1957=)
|
|
|
NM_001999.4(FBN2):c.5886G>C (p.Gly1962=)
|
rs747408641
|
|
NM_001999.4(FBN2):c.5889T>C (p.Phe1963=)
|
rs1554119526
|
|
NM_001999.4(FBN2):c.5895C>G (p.Leu1965=)
|
rs1581201379
|
|
NM_001999.4(FBN2):c.5898T>C (p.Thr1966=)
|
rs2126835924
|
|
NM_001999.4(FBN2):c.5899C>G (p.His1967Asp)
|
|
|
NM_001999.4(FBN2):c.5910T>G (p.Asp1970Glu)
|
rs1749761553
|
|
NM_001999.4(FBN2):c.5917+10T>G
|
|
|
NM_001999.4(FBN2):c.5917+20C>T
|
|
|
NM_001999.4(FBN2):c.5917+5G>A
|
rs1561758622
|
|
NM_001999.4(FBN2):c.5918-10T>C
|
rs547697385
|
|
NM_001999.4(FBN2):c.5918-13T>C
|
|
|
NM_001999.4(FBN2):c.5918-20A>G
|
|
|
NM_001999.4(FBN2):c.5921_5922delinsCG (p.Ile1974Thr)
|
rs1749718755
|
|
NM_001999.4(FBN2):c.5945G>A (p.Gly1982Asp)
|
rs1561757902
|
|
NM_001999.4(FBN2):c.5971T>C (p.Phe1991Leu)
|
|
|
NM_001999.4(FBN2):c.5976T>C (p.Asn1992=)
|
rs1749717202
|
|
NM_001999.4(FBN2):c.5978A>G (p.Glu1993Gly)
|
rs1749717138
|
|
NM_001999.4(FBN2):c.5990T>C (p.Phe1997Ser)
|
rs754066538
|
|
NM_001999.4(FBN2):c.5998C>A (p.Leu2000Ile)
|
|
|
NM_001999.4(FBN2):c.5G>A (p.Gly2Glu)
|
rs976599275
|
|
NM_001999.4(FBN2):c.6016G>A (p.Glu2006Lys)
|
|
|
NM_001999.4(FBN2):c.6026C>T (p.Pro2009Leu)
|
|
|
NM_001999.4(FBN2):c.6028G>C (p.Asp2010His)
|
rs1749713036
|
|
NM_001999.4(FBN2):c.6030T>A (p.Asp2010Glu)
|
rs776937649
|
|
NM_001999.4(FBN2):c.6031G>A (p.Gly2011Ser)
|
|
|
NM_001999.4(FBN2):c.6043A>G (p.Ile2015Val)
|
rs1202188687
|
|
NM_001999.4(FBN2):c.6045A>G (p.Ile2015Met)
|
rs770585421
|
|
NM_001999.4(FBN2):c.6046+10T>C
|
rs1179452976
|
|
NM_001999.4(FBN2):c.6046+16A>G
|
|
|
NM_001999.4(FBN2):c.6046+2T>C
|
rs1581200259
|
|
NM_001999.4(FBN2):c.6046G>C (p.Asp2016His)
|
rs1749711886
|
|
NM_001999.4(FBN2):c.6047-13T>C
|
|
|
NM_001999.4(FBN2):c.6047-9del
|
|
|
NM_001999.4(FBN2):c.6053A>G (p.Asn2018Ser)
|
|
|
NM_001999.4(FBN2):c.6055G>A (p.Glu2019Lys)
|
rs1554119321
|
|
NM_001999.4(FBN2):c.6056A>G (p.Glu2019Gly)
|
rs1749697561
|
|
NM_001999.4(FBN2):c.6071C>A (p.Pro2024His)
|
|
|
NM_001999.4(FBN2):c.6089G>T (p.Gly2030Val)
|
|
|
NM_001999.4(FBN2):c.60G>C (p.Val20=)
|
|
|
NM_001999.4(FBN2):c.6118A>G (p.Arg2040Gly)
|
rs886038814
|
|
NM_001999.4(FBN2):c.6122G>A (p.Cys2041Tyr)
|
rs2126833724
|
|
NM_001999.4(FBN2):c.6131C>T (p.Pro2044Leu)
|
|
|
NM_001999.4(FBN2):c.6147A>G (p.Val2049=)
|
|
|
NM_001999.4(FBN2):c.6154G>A (p.Glu2052Lys)
|
|
|
NM_001999.4(FBN2):c.6160T>A (p.Cys2054Ser)
|
|
|
NM_001999.4(FBN2):c.6165T>G (p.Ile2055Met)
|
|
|
NM_001999.4(FBN2):c.6167-12C>T
|
|
|
NM_001999.4(FBN2):c.6167-13_6167-11del
|
rs1749326713
|
|
NM_001999.4(FBN2):c.6167-15C>A
|
rs1749327059
|
|
NM_001999.4(FBN2):c.6167-1G>C
|
|
|
NM_001999.4(FBN2):c.6167-3C>A
|
rs878854477
|
|
NM_001999.4(FBN2):c.6167-4G>A
|
rs370981323
|
|
NM_001999.4(FBN2):c.6167-4G>T
|
rs370981323
|
|
NM_001999.4(FBN2):c.6195C>T (p.Asn2065=)
|
|
|
NM_001999.4(FBN2):c.6229G>A (p.Gly2077Arg)
|
|
|
NM_001999.4(FBN2):c.6231G>A (p.Gly2077=)
|
|
|
NM_001999.4(FBN2):c.6233G>C (p.Gly2078Ala)
|
rs753305406
|
|
NM_001999.4(FBN2):c.6254C>G (p.Pro2085Arg)
|
rs2126822046
|
|
NM_001999.4(FBN2):c.6269C>G (p.Ser2090Cys)
|
|
|
NM_001999.4(FBN2):c.6269C>T (p.Ser2090Phe)
|
rs878854478
|
|
NM_001999.4(FBN2):c.6270T>C (p.Ser2090=)
|
rs2126822027
|
|
NM_001999.4(FBN2):c.6277G>A (p.Gly2093Arg)
|
|
|
NM_001999.4(FBN2):c.628+20T>G
|
|
|
NM_001999.4(FBN2):c.628+3A>G
|
|
|
NM_001999.4(FBN2):c.628+4A>C
|
|
|
NM_001999.4(FBN2):c.628+8G>A
|
|
|
NM_001999.4(FBN2):c.6281G>A (p.Arg2094Gln)
|
|
|
NM_001999.4(FBN2):c.6282G>T (p.Arg2094=)
|
|
|
NM_001999.4(FBN2):c.629-11C>T
|
rs2127084540
|
|
NM_001999.4(FBN2):c.629-15T>G
|
|
|
NM_001999.4(FBN2):c.629-26TCTT[4]
|
rs778383061
|
|
NM_001999.4(FBN2):c.629-3C>G
|
rs376491648
|
|
NM_001999.4(FBN2):c.6292+11G>C
|
|
|
NM_001999.4(FBN2):c.6292+17C>G
|
|
|
NM_001999.4(FBN2):c.6292+17C>T
|
rs776362563
|
|
NM_001999.4(FBN2):c.6292+6A>G
|
|
|
NM_001999.4(FBN2):c.6293-13C>A
|
|
|
NM_001999.4(FBN2):c.6299G>A (p.Arg2100His)
|
rs746758405
|
|
NM_001999.4(FBN2):c.6349A>G (p.Lys2117Glu)
|
rs2126821327
|
|
NM_001999.4(FBN2):c.6353C>T (p.Ala2118Val)
|
|
|
NM_001999.4(FBN2):c.63C>G (p.Leu21=)
|
rs2112811119
|
|
NM_001999.4(FBN2):c.640G>A (p.Gly214Ser)
|
|
|
NM_001999.4(FBN2):c.6412G>A (p.Asp2138Asn)
|
|
|
NM_001999.4(FBN2):c.6415C>T (p.Pro2139Ser)
|
rs1266965965
|
|
NM_001999.4(FBN2):c.6421G>A (p.Glu2141Lys)
|
|
|
NM_001999.4(FBN2):c.6424C>T (p.Leu2142=)
|
rs2126821243
|
|
NM_001999.4(FBN2):c.6426G>A (p.Leu2142=)
|
rs2126821236
|
|
NM_001999.4(FBN2):c.6426G>C (p.Leu2142=)
|
rs2126821236
|
|
NM_001999.4(FBN2):c.6437A>G (p.Asp2146Gly)
|
rs760548036
|
|
NM_001999.4(FBN2):c.6445+14C>T
|
|
|
NM_001999.4(FBN2):c.6445+3A>G
|
|
|
NM_001999.4(FBN2):c.6445+7G>T
|
|
|
NM_001999.4(FBN2):c.6446-12T>G
|
|
|
NM_001999.4(FBN2):c.6446-15T>C
|
|
|
NM_001999.4(FBN2):c.6446-4G>C
|
|
|
NM_001999.4(FBN2):c.6446-8C>A
|
rs2126820462
|
|
NM_001999.4(FBN2):c.6446T>C (p.Val2149Ala)
|
rs191065419
|
|
NM_001999.4(FBN2):c.6446T>G (p.Val2149Gly)
|
rs191065419
|
|
NM_001999.4(FBN2):c.6454C>T (p.Gln2152Ter)
|
|
|
NM_001999.4(FBN2):c.6456G>A (p.Gln2152=)
|
|
|
NM_001999.4(FBN2):c.645G>T (p.Pro215=)
|
rs764473594
|
|
NM_001999.4(FBN2):c.6468A>G (p.Pro2156=)
|
|
|
NM_001999.4(FBN2):c.6506G>A (p.Arg2169His)
|
|
|
NM_001999.4(FBN2):c.6511+4C>A
|
rs368610241
|
|
NM_001999.4(FBN2):c.6512-11C>A
|
rs759648926
|
|
NM_001999.4(FBN2):c.6512-11C>T
|
rs759648926
|
|
NM_001999.4(FBN2):c.6512-2A>G
|
rs863223580
|
|
NM_001999.4(FBN2):c.6512-2A>T
|
|
|
NM_001999.4(FBN2):c.6512-8T>A
|
rs2126819626
|
|
NM_001999.4(FBN2):c.6569C>G (p.Thr2190Ser)
|
rs1561750168
|
|
NM_001999.4(FBN2):c.6570C>T (p.Thr2190=)
|
|
|
NM_001999.4(FBN2):c.6571G>A (p.Asp2191Asn)
|
rs1244642553
|
|
NM_001999.4(FBN2):c.6575G>C (p.Gly2192Ala)
|
|
|
NM_001999.4(FBN2):c.6619A>C (p.Thr2207Pro)
|
|
|
NM_001999.4(FBN2):c.6623G>A (p.Gly2208Glu)
|
rs200489152
|
|
NM_001999.4(FBN2):c.6625G>T (p.Val2209Leu)
|
|
|
NM_001999.4(FBN2):c.6637+8T>C
|
rs780697390
|
|
NM_001999.4(FBN2):c.6638-13T>A
|
|
|
NM_001999.4(FBN2):c.6638-15_6638-13del
|
rs756212920
|
|
NM_001999.4(FBN2):c.6638-19T>C
|
rs2126818779
|
|
NM_001999.4(FBN2):c.6638-9_6638-7del
|
rs754187604
|
|
NM_001999.4(FBN2):c.6657C>T (p.Ile2219=)
|
|
|
NM_001999.4(FBN2):c.6663T>A (p.Asn2221Lys)
|
rs2126818692
|
|
NM_001999.4(FBN2):c.6678T>C (p.Gly2226=)
|
rs2126818668
|
|
NM_001999.4(FBN2):c.6693T>C (p.Val2231=)
|
rs1554118051
|
|
NM_001999.4(FBN2):c.6719A>G (p.Asn2240Ser)
|
rs863223612
|
|
NM_001999.4(FBN2):c.6748A>T (p.Asn2250Tyr)
|
|
|
NM_001999.4(FBN2):c.6757+2C>T
|
|
|
NM_001999.4(FBN2):c.6757+8A>T
|
|
|
NM_001999.4(FBN2):c.6757+9T>C
|
|
|
NM_001999.4(FBN2):c.6758-12del
|
rs757126046
|
|
NM_001999.4(FBN2):c.6765C>T (p.Asn2255=)
|
rs140044610
|
|
NM_001999.4(FBN2):c.676C>G (p.Gln226Glu)
|
|
|
NM_001999.4(FBN2):c.6777G>A (p.Gln2259=)
|
|
|
NM_001999.4(FBN2):c.677A>G (p.Gln226Arg)
|
|
|
NM_001999.4(FBN2):c.6783A>C (p.Pro2261=)
|
rs1561749096
|
|
NM_001999.4(FBN2):c.6786G>T (p.Leu2262=)
|
|
|
NM_001999.4(FBN2):c.67G>C (p.Ala23Pro)
|
rs893243344
|
|
NM_001999.4(FBN2):c.6814T>G (p.Phe2272Val)
|
rs1749185390
|
|
NM_001999.4(FBN2):c.6832A>G (p.Thr2278Ala)
|
rs1060503500
|
|
NM_001999.4(FBN2):c.6840G>A (p.Pro2280=)
|
rs377742525
|
|
NM_001999.4(FBN2):c.6856A>G (p.Arg2286Gly)
|
|
|
NM_001999.4(FBN2):c.685C>T (p.Leu229=)
|
rs200698449
|
|
NM_001999.4(FBN2):c.6870G>C (p.Lys2290Asn)
|
|
|
NM_001999.4(FBN2):c.6873G>A (p.Met2291Ile)
|
rs1581189176
|
|
NM_001999.4(FBN2):c.6880+16C>T
|
|
|
NM_001999.4(FBN2):c.6880+19G>T
|
|
|
NM_001999.4(FBN2):c.6880+6G>A
|
|
|
NM_001999.4(FBN2):c.6880+6G>C
|
rs1271195305
|
|
NM_001999.4(FBN2):c.6881-13T>C
|
|
|
NM_001999.4(FBN2):c.6881-15del
|
|
|
NM_001999.4(FBN2):c.6881-19T>A
|
|
|
NM_001999.4(FBN2):c.6881-1G>A
|
|
|
NM_001999.4(FBN2):c.6881-1G>T
|
|
|
NM_001999.4(FBN2):c.6881-4C>G
|
|
|
NM_001999.4(FBN2):c.6898G>A (p.Glu2300Lys)
|
rs1419124277
|
|
NM_001999.4(FBN2):c.68C>A (p.Ala23Glu)
|
rs199560824
|
|
NM_001999.4(FBN2):c.6903G>A (p.Gly2301=)
|
|
|
NM_001999.4(FBN2):c.6903G>T (p.Gly2301=)
|
rs886039130
|
|
NM_001999.4(FBN2):c.6908A>G (p.His2303Arg)
|
|
|
NM_001999.4(FBN2):c.6909C>A (p.His2303Gln)
|
|
|
NM_001999.4(FBN2):c.6911A>G (p.Asp2304Gly)
|
|
|
NM_001999.4(FBN2):c.6917A>G (p.Glu2306Gly)
|
|
|
NM_001999.4(FBN2):c.6924G>A (p.Arg2308=)
|
|
|
NM_001999.4(FBN2):c.6948C>A (p.Ile2316=)
|
rs17608368
|
|
NM_001999.4(FBN2):c.6948C>T (p.Ile2316=)
|
rs17608368
|
|
NM_001999.4(FBN2):c.6972T>A (p.Pro2324=)
|
|
|
NM_001999.4(FBN2):c.6972T>C (p.Pro2324=)
|
rs1581188714
|
|
NM_001999.4(FBN2):c.6972T>G (p.Pro2324=)
|
|
|
NM_001999.4(FBN2):c.6975T>A (p.Pro2325=)
|
rs1274780641
|
|
NM_001999.4(FBN2):c.6975T>C (p.Pro2325=)
|
|
|
NM_001999.4(FBN2):c.6977G>C (p.Gly2326Ala)
|
rs1554117875
|
|
NM_001999.4(FBN2):c.6985C>T (p.Arg2329Ter)
|
rs1287289593
|
|
NM_001999.4(FBN2):c.6986G>T (p.Arg2329Leu)
|
rs370804151
|
|
NM_001999.4(FBN2):c.6993C>T (p.Pro2331=)
|
rs368234173
|
|
NM_001999.4(FBN2):c.6999A>C (p.Gly2333=)
|
|
|
NM_001999.4(FBN2):c.7011A>G (p.Val2337=)
|
rs2126816680
|
|
NM_001999.4(FBN2):c.7012+13G>A
|
|
|
NM_001999.4(FBN2):c.7012+18G>T
|
|
|
NM_001999.4(FBN2):c.7012+7G>C
|
rs199735209
|
|
NM_001999.4(FBN2):c.7012+8G>A
|
rs1422660066
|
|
NM_001999.4(FBN2):c.7013-5del
|
|
|
NM_001999.4(FBN2):c.7013-7T>C
|
|
|
NM_001999.4(FBN2):c.7030A>T (p.Thr2344Ser)
|
|
|
NM_001999.4(FBN2):c.7052A>G (p.Asn2351Ser)
|
rs1581184433
|
|
NM_001999.4(FBN2):c.7055G>C (p.Gly2352Ala)
|
rs764330020
|
|
NM_001999.4(FBN2):c.705G>A (p.Thr235=)
|
|
|
NM_001999.4(FBN2):c.705G>T (p.Thr235=)
|
|
|
NM_001999.4(FBN2):c.7080C>A (p.Ser2360Arg)
|
|
|
NM_001999.4(FBN2):c.7085G>A (p.Arg2362Lys)
|
rs771718967
|
|
NM_001999.4(FBN2):c.7085G>C (p.Arg2362Thr)
|
rs771718967
|
|
NM_001999.4(FBN2):c.7109A>G (p.Gln2370Arg)
|
|
|
NM_001999.4(FBN2):c.7115G>C (p.Ser2372Thr)
|
|
|
NM_001999.4(FBN2):c.7118C>T (p.Ser2373Phe)
|
|
|
NM_001999.4(FBN2):c.7128T>C (p.Thr2376=)
|
rs1765497836
|
|
NM_001999.4(FBN2):c.7137T>C (p.Leu2379=)
|
|
|
NM_001999.4(FBN2):c.7139A>G (p.Asp2380Gly)
|
rs1765463264
|
|
NM_001999.4(FBN2):c.714G>C (p.Leu238=)
|
|
|
NM_001999.4(FBN2):c.7155C>T (p.Leu2385=)
|
|
|
NM_001999.4(FBN2):c.7158C>T (p.Cys2386=)
|
rs759522946
|
|
NM_001999.4(FBN2):c.7161T>C (p.Phe2387=)
|
|
|
NM_001999.4(FBN2):c.7163C>T (p.Ala2388Val)
|
rs754380350
|
|
NM_001999.4(FBN2):c.7168G>A (p.Val2390Ile)
|
rs768193630
|
|
NM_001999.4(FBN2):c.7169T>C (p.Val2390Ala)
|
|
|
NM_001999.4(FBN2):c.7170A>T (p.Val2390=)
|
|
|
NM_001999.4(FBN2):c.7176G>A (p.Gln2392=)
|
|
|
NM_001999.4(FBN2):c.7184G>A (p.Cys2395Tyr)
|
|
|
NM_001999.4(FBN2):c.7192G>T (p.Ala2398Ser)
|
|
|
NM_001999.4(FBN2):c.7195T>G (p.Ser2399Ala)
|
|
|
NM_001999.4(FBN2):c.7200_7201delinsCC (p.Ser2401Arg)
|
|
|
NM_001999.4(FBN2):c.7201A>G (p.Ser2401Gly)
|
|
|
NM_001999.4(FBN2):c.7204C>T (p.Arg2402Cys)
|
|
|
NM_001999.4(FBN2):c.7205_7206delinsTT (p.Arg2402Leu)
|
|
|
NM_001999.4(FBN2):c.7218T>G (p.Thr2406=)
|
|
|
NM_001999.4(FBN2):c.7241G>A (p.Gly2414Asp)
|
|
|
NM_001999.4(FBN2):c.7241G>T (p.Gly2414Val)
|
rs2126809569
|
|
NM_001999.4(FBN2):c.7250G>T (p.Gly2417Val)
|
rs886038938
|
|
NM_001999.4(FBN2):c.7259A>C (p.His2420Pro)
|
rs2126809547
|
|
NM_001999.4(FBN2):c.7260C>T (p.His2420=)
|
rs775251012
|
|
NM_001999.4(FBN2):c.7273T>C (p.Cys2425Arg)
|
|
|
NM_001999.4(FBN2):c.7278A>G (p.Pro2426=)
|
rs773011673
|
|
NM_001999.4(FBN2):c.7288A>G (p.Thr2430Ala)
|
|
|
NM_001999.4(FBN2):c.7316A>G (p.His2439Arg)
|
|
|
NM_001999.4(FBN2):c.7345+10T>C
|
|
|
NM_001999.4(FBN2):c.7345+6G>A
|
|
|
NM_001999.4(FBN2):c.7345+9T>A
|
|
|
NM_001999.4(FBN2):c.7346-17G>T
|
|
|
NM_001999.4(FBN2):c.7346-3C>T
|
rs1439389862
|
|
NM_001999.4(FBN2):c.7346-8G>A
|
rs2126808910
|
|
NM_001999.4(FBN2):c.736G>A (p.Ala246Thr)
|
rs141088981
|
|
NM_001999.4(FBN2):c.737C>T (p.Ala246Val)
|
|
|
NM_001999.4(FBN2):c.7382C>T (p.Thr2461Ile)
|
rs1019541548
|
|
NM_001999.4(FBN2):c.738G>T (p.Ala246=)
|
|
|
NM_001999.4(FBN2):c.7392G>A (p.Gln2464=)
|
|
|
NM_001999.4(FBN2):c.7396A>C (p.Ile2466Leu)
|
|
|
NM_001999.4(FBN2):c.7404C>G (p.Thr2468=)
|
|
|
NM_001999.4(FBN2):c.7418G>A (p.Arg2473Gln)
|
rs28763925
|
|
NM_001999.4(FBN2):c.7418G>T (p.Arg2473Leu)
|
rs28763925
|
|
NM_001999.4(FBN2):c.7428C>T (p.Cys2476=)
|
rs2126808790
|
|
NM_001999.4(FBN2):c.7429A>G (p.Lys2477Glu)
|
rs1765435966
|
|
NM_001999.4(FBN2):c.7433T>C (p.Val2478Ala)
|
|
|
NM_001999.4(FBN2):c.7444A>G (p.Thr2482Ala)
|
|
|
NM_001999.4(FBN2):c.7449C>T (p.Asp2483=)
|
|
|
NM_001999.4(FBN2):c.7459A>G (p.Thr2487Ala)
|
rs2126808746
|
|
NM_001999.4(FBN2):c.7460C>T (p.Thr2487Ile)
|
|
|
NM_001999.4(FBN2):c.7464T>C (p.Ser2488=)
|
rs1765435027
|
|
NM_001999.4(FBN2):c.7467T>C (p.Cys2489=)
|
|
|
NM_001999.4(FBN2):c.7468A>G (p.Ile2490Val)
|
|
|
NM_001999.4(FBN2):c.7475T>C (p.Leu2492Pro)
|
rs1056653104
|
|
NM_001999.4(FBN2):c.7477G>T (p.Asp2493Tyr)
|
rs779483120
|
|
NM_001999.4(FBN2):c.7487C>A (p.Ser2496Tyr)
|
|
|
NM_001999.4(FBN2):c.7495C>A (p.Pro2499Thr)
|
|
|
NM_001999.4(FBN2):c.74G>A (p.Gly25Asp)
|
rs2112811070
|
|
NM_001999.4(FBN2):c.7521G>T (p.Lys2507Asn)
|
|
|
NM_001999.4(FBN2):c.7533G>T (p.Gly2511=)
|
rs1060503502
|
|
NM_001999.4(FBN2):c.7539T>C (p.Tyr2513=)
|
rs1581181343
|
|
NM_001999.4(FBN2):c.7543T>G (p.Cys2515Gly)
|
|
|
NM_001999.4(FBN2):c.7554G>A (p.Pro2518=)
|
|
|
NM_001999.4(FBN2):c.7560G>C (p.Gly2520=)
|
|
|
NM_001999.4(FBN2):c.7567C>T (p.Leu2523=)
|
rs2126807268
|
|
NM_001999.4(FBN2):c.756G>A (p.Glu252=)
|
rs565550310
|
|
NM_001999.4(FBN2):c.7571A>C (p.Gln2524Pro)
|
|
|
NM_001999.4(FBN2):c.7575G>T (p.Glu2525Asp)
|
|
|
NM_001999.4(FBN2):c.7577A>T (p.Asp2526Val)
|
rs768941456
|
|
NM_001999.4(FBN2):c.7582A>C (p.Lys2528Gln)
|
rs894902794
|
|
NM_001999.4(FBN2):c.7582A>G (p.Lys2528Glu)
|
|
|
NM_001999.4(FBN2):c.7588T>C (p.Cys2530Arg)
|
|
|
NM_001999.4(FBN2):c.7594+14C>T
|
|
|
NM_001999.4(FBN2):c.7595-12C>G
|
|
|
NM_001999.4(FBN2):c.7595-14C>G
|
|
|
NM_001999.4(FBN2):c.7595-15T>C
|
|
|
NM_001999.4(FBN2):c.7595-17C>A
|
rs1353897134
|
|
NM_001999.4(FBN2):c.7611A>G (p.Gln2537=)
|
|
|
NM_001999.4(FBN2):c.7618C>T (p.Gln2540Ter)
|
rs1453328210
|
|
NM_001999.4(FBN2):c.761G>T (p.Cys254Phe)
|
rs755760127
|
|
NM_001999.4(FBN2):c.7626C>G (p.Asn2542Lys)
|
|
|
NM_001999.4(FBN2):c.7650C>G (p.Thr2550=)
|
rs140978642
|
|
NM_001999.4(FBN2):c.7650C>T (p.Thr2550=)
|
|
|
NM_001999.4(FBN2):c.7656G>A (p.Gly2552=)
|
rs982288060
|
|
NM_001999.4(FBN2):c.7656G>T (p.Gly2552=)
|
|
|
NM_001999.4(FBN2):c.7657G>T (p.Gly2553Trp)
|
|
|
NM_001999.4(FBN2):c.7658G>A (p.Gly2553Glu)
|
|
|
NM_001999.4(FBN2):c.7658G>C (p.Gly2553Ala)
|
rs764514988
|
|
NM_001999.4(FBN2):c.7658G>T (p.Gly2553Val)
|
|
|
NM_001999.4(FBN2):c.7672T>G (p.Cys2558Gly)
|
rs863223589
|
|
NM_001999.4(FBN2):c.7679C>T (p.Pro2560Leu)
|
|
|
NM_001999.4(FBN2):c.7693C>T (p.His2565Tyr)
|
rs1765342729
|
|
NM_001999.4(FBN2):c.7698C>A (p.His2566Gln)
|
|
|
NM_001999.4(FBN2):c.7704T>C (p.Ala2568=)
|
rs778549338
|
|
NM_001999.4(FBN2):c.7712-8T>G
|
|
|
NM_001999.4(FBN2):c.7727G>T (p.Gly2576Val)
|
rs572453085
|
|
NM_001999.4(FBN2):c.7734A>T (p.Gln2578His)
|
|
|
NM_001999.4(FBN2):c.7744T>C (p.Cys2582Arg)
|
rs2126805299
|
|
NM_001999.4(FBN2):c.7757G>C (p.Gly2586Ala)
|
rs1447205905
|
|
NM_001999.4(FBN2):c.7758A>C (p.Gly2586=)
|
rs1765323936
|
|
NM_001999.4(FBN2):c.7773T>C (p.Thr2591=)
|
rs1554116608
|
|
NM_001999.4(FBN2):c.7787G>T (p.Ser2596Ile)
|
|
|
NM_001999.4(FBN2):c.7818T>C (p.Asp2606=)
|
|
|
NM_001999.4(FBN2):c.7822A>T (p.Thr2608Ser)
|
rs762538141
|
|
NM_001999.4(FBN2):c.7837G>A (p.Glu2613Lys)
|
|
|
NM_001999.4(FBN2):c.7840+10T>C
|
|
|
NM_001999.4(FBN2):c.7840+1G>A
|
|
|
NM_001999.4(FBN2):c.7841-14G>A
|
rs751308498
|
|
NM_001999.4(FBN2):c.7841-3C>T
|
rs1554116417
|
|
NM_001999.4(FBN2):c.7859_7860delinsAA (p.Gly2620Glu)
|
rs1554116412
|
|
NM_001999.4(FBN2):c.7860G>T (p.Gly2620=)
|
rs772818240
|
|
NM_001999.4(FBN2):c.7868G>A (p.Arg2623Lys)
|
|
|
NM_001999.4(FBN2):c.7873C>T (p.Gln2625Ter)
|
rs1554116411
|
|
NM_001999.4(FBN2):c.788G>A (p.Arg263Gln)
|
rs769593495
|
|
NM_001999.4(FBN2):c.78G>C (p.Thr26=)
|
rs1265112696
|
|
NM_001999.4(FBN2):c.78G>T (p.Thr26=)
|
|
|
NM_001999.4(FBN2):c.7900G>A (p.Gly2634Ser)
|
|
|
NM_001999.4(FBN2):c.7906A>C (p.Arg2636=)
|
|
|
NM_001999.4(FBN2):c.7914C>T (p.Gly2638=)
|
|
|
NM_001999.4(FBN2):c.7918C>G (p.Pro2640Ala)
|
rs1060503512
|
|
NM_001999.4(FBN2):c.7959C>A (p.Val2653=)
|
rs773175830
|
|
NM_001999.4(FBN2):c.795C>T (p.Phe265=)
|
|
|
NM_001999.4(FBN2):c.7960G>A (p.Asp2654Asn)
|
|
|
NM_001999.4(FBN2):c.7961A>G (p.Asp2654Gly)
|
|
|
NM_001999.4(FBN2):c.7975T>C (p.Ser2659Pro)
|
rs1765039937
|
|
NM_001999.4(FBN2):c.7994G>C (p.Gly2665Ala)
|
|
|
NM_001999.4(FBN2):c.799C>T (p.Pro267Ser)
|
rs1229950368
|
|
NM_001999.4(FBN2):c.7A>C (p.Arg3=)
|
rs1466844222
|
|
NM_001999.4(FBN2):c.8001T>A (p.Ala2667=)
|
|
|
NM_001999.4(FBN2):c.8014A>G (p.Thr2672Ala)
|
|
|
NM_001999.4(FBN2):c.8016C>A (p.Thr2672=)
|
|
|
NM_001999.4(FBN2):c.8033G>C (p.Cys2678Ser)
|
rs1765038866
|
|
NM_001999.4(FBN2):c.8034C>T (p.Cys2678=)
|
|
|
NM_001999.4(FBN2):c.8035G>A (p.Ala2679Thr)
|
rs763870762
|
|
NM_001999.4(FBN2):c.8035G>T (p.Ala2679Ser)
|
rs763870762
|
|
NM_001999.4(FBN2):c.8040C>T (p.Cys2680=)
|
|
|
NM_001999.4(FBN2):c.8042C>T (p.Pro2681Leu)
|
|
|
NM_001999.4(FBN2):c.8045_8046delinsTC (p.Ser2682Phe)
|
|
|
NM_001999.4(FBN2):c.8049G>T (p.Gly2683=)
|
rs138044126
|
|
NM_001999.4(FBN2):c.8058C>T (p.Phe2686=)
|
rs150734807
|
|
NM_001999.4(FBN2):c.8061C>G (p.Asp2687Glu)
|
rs749888746
|
|
NM_001999.4(FBN2):c.8061C>T (p.Asp2687=)
|
|
|
NM_001999.4(FBN2):c.8061_8067delinsG (p.Asp2687_Phe2689delinsGlu)
|
rs863223597
|
|
NM_001999.4(FBN2):c.806T>C (p.Ile269Thr)
|
rs771008563
|
|
NM_001999.4(FBN2):c.8078G>T (p.Cys2693Phe)
|
rs2126795619
|
|
NM_001999.4(FBN2):c.8080C>T (p.His2694Tyr)
|
rs1387382061
|
|
NM_001999.4(FBN2):c.8082C>A (p.His2694Gln)
|
rs142755118
|
|
NM_001999.4(FBN2):c.8082C>G (p.His2694Gln)
|
rs142755118
|
|
NM_001999.4(FBN2):c.8082C>T (p.His2694=)
|
rs142755118
|
|
NM_001999.4(FBN2):c.8083G>A (p.Asp2695Asn)
|
|
|
NM_001999.4(FBN2):c.8094G>C (p.Glu2698Asp)
|
rs1765035115
|
|
NM_001999.4(FBN2):c.8096G>A (p.Cys2699Tyr)
|
rs2126795584
|
|
NM_001999.4(FBN2):c.8098T>A (p.Ser2700Thr)
|
|
|
NM_001999.4(FBN2):c.8099C>G (p.Ser2700Trp)
|
rs776788539
|
|
NM_001999.4(FBN2):c.809G>A (p.Arg270His)
|
rs148971572
|
|
NM_001999.4(FBN2):c.809G>T (p.Arg270Leu)
|
rs148971572
|
|
NM_001999.4(FBN2):c.80C>A (p.Ala27Asp)
|
|
|
NM_001999.4(FBN2):c.80C>T (p.Ala27Val)
|
|
|
NM_001999.4(FBN2):c.8100G>A (p.Ser2700=)
|
|
|
NM_001999.4(FBN2):c.8100G>C (p.Ser2700=)
|
rs138659121
|
|
NM_001999.4(FBN2):c.8117G>A (p.Cys2706Tyr)
|
|
|
NM_001999.4(FBN2):c.8120A>G (p.Asn2707Ser)
|
rs1182788018
|
|
NM_001999.4(FBN2):c.8127C>G (p.Gly2709=)
|
rs141841206
|
|
NM_001999.4(FBN2):c.812C>G (p.Thr271Ser)
|
rs1754660014
|
|
NM_001999.4(FBN2):c.8132C>G (p.Ser2711Cys)
|
rs758149534
|
|
NM_001999.4(FBN2):c.8138C>T (p.Thr2713Met)
|
rs754101758
|
|
NM_001999.4(FBN2):c.8139G>A (p.Thr2713=)
|
rs1057523293
|
|
NM_001999.4(FBN2):c.8143G>A (p.Gly2715Arg)
|
rs772569905
|
|
NM_001999.4(FBN2):c.8143G>C (p.Gly2715Arg)
|
rs772569905
|
|
NM_001999.4(FBN2):c.8147G>T (p.Gly2716Val)
|
rs1561736199
|
|
NM_001999.4(FBN2):c.8164C>T (p.Pro2722Ser)
|
|
|
NM_001999.4(FBN2):c.8187A>G (p.Gly2729=)
|
|
|
NM_001999.4(FBN2):c.8191G>A (p.Gly2731Ser)
|
rs1765029329
|
|
NM_001999.4(FBN2):c.8192+20C>T
|
|
|
NM_001999.4(FBN2):c.8192+6G>A
|
rs752575354
|
|
NM_001999.4(FBN2):c.8192+7C>A
|
rs376135657
|
|
NM_001999.4(FBN2):c.8193-9T>G
|
|
|
NM_001999.4(FBN2):c.8193C>T (p.Gly2731=)
|
|
|
NM_001999.4(FBN2):c.81C>A (p.Ala27=)
|
|
|
NM_001999.4(FBN2):c.8226G>A (p.Gly2742=)
|
|
|
NM_001999.4(FBN2):c.8241G>A (p.Leu2747=)
|
rs775766250
|
|
NM_001999.4(FBN2):c.824A>C (p.Gln275Pro)
|
|
|
NM_001999.4(FBN2):c.8251G>A (p.Val2751Ile)
|
|
|
NM_001999.4(FBN2):c.826+18C>G
|
|
|
NM_001999.4(FBN2):c.8261A>G (p.Glu2754Gly)
|
|
|
NM_001999.4(FBN2):c.827-10C>T
|
|
|
NM_001999.4(FBN2):c.827-13T>G
|
|
|
NM_001999.4(FBN2):c.827-4G>A
|
|
|
NM_001999.4(FBN2):c.8270T>A (p.Leu2757Gln)
|
|
|
NM_001999.4(FBN2):c.8275C>G (p.Pro2759Ala)
|
rs1158966833
|
|
NM_001999.4(FBN2):c.8290G>A (p.Glu2764Lys)
|
|
|
NM_001999.4(FBN2):c.8297A>T (p.Lys2766Ile)
|
rs1764982741
|
|
NM_001999.4(FBN2):c.8313T>C (p.Ser2771=)
|
|
|
NM_001999.4(FBN2):c.8315A>C (p.Lys2772Thr)
|
rs1308073420
|
|
NM_001999.4(FBN2):c.8322C>T (p.Asp2774=)
|
rs1554115402
|
|
NM_001999.4(FBN2):c.8323A>G (p.Ser2775Gly)
|
|
|
NM_001999.4(FBN2):c.8327G>A (p.Arg2776Lys)
|
|
|
NM_001999.4(FBN2):c.8331G>A (p.Gln2777=)
|
|
|
NM_001999.4(FBN2):c.834T>C (p.Asp278=)
|
rs2127056960
|
|
NM_001999.4(FBN2):c.8359A>G (p.Thr2787Ala)
|
|
|
NM_001999.4(FBN2):c.8363C>T (p.Ala2788Val)
|
|
|
NM_001999.4(FBN2):c.8364+17C>T
|
|
|
NM_001999.4(FBN2):c.8364+7A>G
|
rs185052980
|
|
NM_001999.4(FBN2):c.8364+8T>C
|
rs1554115371
|
|
NM_001999.4(FBN2):c.8365-17T>G
|
|
|
NM_001999.4(FBN2):c.8365-4C>G
|
rs878854480
|
|
NM_001999.4(FBN2):c.8366T>C (p.Val2789Ala)
|
|
|
NM_001999.4(FBN2):c.8374A>G (p.Ile2792Val)
|
|
|
NM_001999.4(FBN2):c.8379C>T (p.Ser2793=)
|
|
|
NM_001999.4(FBN2):c.837A>G (p.Glu279=)
|
rs2127056950
|
|
NM_001999.4(FBN2):c.8383G>A (p.Glu2795Lys)
|
|
|
NM_001999.4(FBN2):c.8391C>G (p.Val2797=)
|
|
|
NM_001999.4(FBN2):c.8392G>A (p.Asp2798Asn)
|
|
|
NM_001999.4(FBN2):c.8396T>C (p.Met2799Thr)
|
|
|
NM_001999.4(FBN2):c.8407G>A (p.Val2803Ile)
|
|
|
NM_001999.4(FBN2):c.8413A>T (p.Met2805Leu)
|
|
|
NM_001999.4(FBN2):c.8414T>G (p.Met2805Arg)
|
|
|
NM_001999.4(FBN2):c.8425C>T (p.Leu2809Phe)
|
rs1764918027
|
|
NM_001999.4(FBN2):c.8430C>A (p.Ser2810=)
|
|
|
NM_001999.4(FBN2):c.8435T>A (p.Leu2812His)
|
|
|
NM_001999.4(FBN2):c.844G>T (p.Ala282Ser)
|
|
|
NM_001999.4(FBN2):c.8454C>G (p.Ile2818Met)
|
rs2126791949
|
|
NM_001999.4(FBN2):c.8467C>A (p.Pro2823Thr)
|
|
|
NM_001999.4(FBN2):c.8478G>C (p.Gln2826His)
|
rs1161871936
|
|
NM_001999.4(FBN2):c.8493C>T (p.His2831=)
|
|
|
NM_001999.4(FBN2):c.8495T>A (p.Ile2832Asn)
|
|
|
NM_001999.4(FBN2):c.8499T>G (p.Arg2833=)
|
|
|
NM_001999.4(FBN2):c.84C>A (p.Gly28=)
|
|
|
NM_001999.4(FBN2):c.8501dup (p.Tyr2834Ter)
|
rs1060503503
|
|
NM_001999.4(FBN2):c.8506A>G (p.Ile2836Val)
|
rs1249852107
|
|
NM_001999.4(FBN2):c.8508C>T (p.Ile2836=)
|
rs1764914729
|
|
NM_001999.4(FBN2):c.8517G>C (p.Gly2839=)
|
rs1764914519
|
|
NM_001999.4(FBN2):c.8521G>A (p.Asp2841Asn)
|
|
|
NM_001999.4(FBN2):c.8527A>G (p.Ser2843Gly)
|
rs1764914190
|
|
NM_001999.4(FBN2):c.8528_8529delinsTT (p.Ser2843Ile)
|
rs2126791814
|
|
NM_001999.4(FBN2):c.8529C>A (p.Ser2843Arg)
|
|
|
NM_001999.4(FBN2):c.8529C>T (p.Ser2843=)
|
|
|
NM_001999.4(FBN2):c.8536C>T (p.Arg2846Cys)
|
|
|
NM_001999.4(FBN2):c.8537G>T (p.Arg2846Leu)
|
rs200345491
|
|
NM_001999.4(FBN2):c.8538C>T (p.Arg2846=)
|
|
|
NM_001999.4(FBN2):c.853G>C (p.Gly285Arg)
|
rs2127056896
|
|
NM_001999.4(FBN2):c.8543A>G (p.His2848Arg)
|
rs1291203524
|
|
NM_001999.4(FBN2):c.8544C>T (p.His2848=)
|
|
|
NM_001999.4(FBN2):c.8556G>A (p.Gly2852=)
|
|
|
NM_001999.4(FBN2):c.8557C>T (p.Leu2853Phe)
|
|
|
NM_001999.4(FBN2):c.8559C>T (p.Leu2853=)
|
rs778576181
|
|
NM_001999.4(FBN2):c.857T>C (p.Ile286Thr)
|
|
|
NM_001999.4(FBN2):c.8584A>C (p.Lys2862Gln)
|
|
|
NM_001999.4(FBN2):c.8585A>C (p.Lys2862Thr)
|
|
|
NM_001999.4(FBN2):c.8587C>T (p.Leu2863Phe)
|
|
|
NM_001999.4(FBN2):c.8589C>T (p.Leu2863=)
|
rs886038784
|
|
NM_001999.4(FBN2):c.8606C>A (p.Thr2869Lys)
|
rs762956345
|
|
NM_001999.4(FBN2):c.8607A>G (p.Thr2869=)
|
|
|
NM_001999.4(FBN2):c.8623A>G (p.Ile2875Val)
|
rs1554115164
|
|
NM_001999.4(FBN2):c.8635AAG[2] (p.Lys2881del)
|
|
|
NM_001999.4(FBN2):c.8639A>G (p.Lys2880Arg)
|
rs1367710207
|
|
NM_001999.4(FBN2):c.8664G>C (p.Glu2888Asp)
|
|
|
NM_001999.4(FBN2):c.8666G>A (p.Ser2889Asn)
|
rs2126791602
|
|
NM_001999.4(FBN2):c.866G>A (p.Gly289Glu)
|
rs1754069364
|
|
NM_001999.4(FBN2):c.8677G>A (p.Asp2893Asn)
|
rs748874308
|
|
NM_001999.4(FBN2):c.8681A>G (p.Tyr2894Cys)
|
rs779659640
|
|
NM_001999.4(FBN2):c.8688A>G (p.Leu2896=)
|
rs1194973560
|
|
NM_001999.4(FBN2):c.8695C>G (p.Leu2899Val)
|
|
|
NM_001999.4(FBN2):c.8703G>A (p.Glu2901=)
|
rs1374026282
|
|
NM_001999.4(FBN2):c.8731C>A (p.Leu2911Ile)
|
rs887275019
|
|
NM_001999.4(FBN2):c.8734T>C (p.Tyr2912His)
|
|
|
NM_001999.4(FBN2):c.8737T>G (p.Ter2913Glu)
|
|
|
NM_001999.4(FBN2):c.875G>C (p.Cys292Ser)
|
|
|
NM_001999.4(FBN2):c.878T>C (p.Ile293Thr)
|
|
|
NM_001999.4(FBN2):c.89C>T (p.Pro30Leu)
|
|
|
NM_001999.4(FBN2):c.905G>A (p.Arg302Lys)
|
|
|
NM_001999.4(FBN2):c.905G>C (p.Arg302Thr)
|
rs863223616
|
|
NM_001999.4(FBN2):c.906A>T (p.Arg302Ser)
|
rs1554069994
|
|
NM_001999.4(FBN2):c.924A>G (p.Lys308=)
|
|
|
NM_001999.4(FBN2):c.924A>T (p.Lys308Asn)
|
|
|
NM_001999.4(FBN2):c.930T>A (p.Ser310Arg)
|
|
|
NM_001999.4(FBN2):c.93G>C (p.Gln31His)
|
rs371491169
|
|
NM_001999.4(FBN2):c.952+14C>G
|
|
|
NM_001999.4(FBN2):c.952+3G>T
|
rs1554069982
|
|
NM_001999.4(FBN2):c.952+7CT[2]
|
rs750915525
|
|
NM_001999.4(FBN2):c.953-10C>T
|
rs2127000191
|
|
NM_001999.4(FBN2):c.953-14C>T
|
|
|
NM_001999.4(FBN2):c.953-18_953-16del
|
|
|
NM_001999.4(FBN2):c.953-9del
|
rs757659311
|
|
NM_001999.4(FBN2):c.960T>C (p.Asp320=)
|
rs1581270421
|
|
NM_001999.4(FBN2):c.969C>T (p.Ser323=)
|
rs1554067083
|
|
NM_001999.4(FBN2):c.991A>G (p.Thr331Ala)
|
|
|
NM_001999.4(FBN2):c.994G>A (p.Gly332Ser)
|
rs2127000101
|
|
NM_001999.4(FBN2):c.995G>T (p.Gly332Val)
|
|
|