NM_001999.4(FBN2):c.7181T>C (p.Ile2394Thr)
|
rs28763926
|
0.00287
|
NM_001999.4(FBN2):c.829G>A (p.Val277Ile)
|
rs146849637
|
0.00210
|
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His)
|
rs137854475
|
0.00168
|
NM_003036.4(SKI):c.2184G>C (p.Pro728=)
|
rs543584871
|
0.00167
|
NM_003036.4(SKI):c.1196C>T (p.Ala399Val)
|
rs141862996
|
0.00148
|
NM_001032283.3(TMPO):c.565+1696C>T
|
rs141443652
|
0.00142
|
NM_001999.4(FBN2):c.2260G>A (p.Gly754Ser)
|
rs145259927
|
0.00137
|
NM_001999.4(FBN2):c.1592G>C (p.Gly531Ala)
|
rs34450503
|
0.00117
|
NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly)
|
rs61730054
|
0.00113
|
NM_001999.4(FBN2):c.110C>A (p.Pro37Gln)
|
rs201255083
|
0.00110
|
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr)
|
rs112287730
|
0.00107
|
NM_001999.4(FBN2):c.6655A>G (p.Ile2219Val)
|
rs140821039
|
0.00102
|
NM_001999.4(FBN2):c.3767A>G (p.Gln1256Arg)
|
rs139052603
|
0.00100
|
NM_003239.5(TGFB3):c.164G>A (p.Ser55Asn)
|
rs143229915
|
0.00100
|
NM_001032283.3(TMPO):c.565+2224A>G
|
rs34983516
|
0.00098
|
NM_003239.5(TGFB3):c.293C>T (p.Ser98Leu)
|
rs142047577
|
0.00092
|
NM_003036.4(SKI):c.216C>T (p.Pro72=)
|
rs756778048
|
0.00083
|
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met)
|
rs112084407
|
0.00078
|
NM_000138.5(FBN1):c.510C>T (p.Tyr170=)
|
rs111671429
|
0.00076
|
NM_003239.5(TGFB3):c.646+13T>C
|
rs780891440
|
0.00076
|
NM_001999.4(FBN2):c.2684A>G (p.Lys895Arg)
|
rs143565958
|
0.00074
|
NM_003238.6(TGFB2):c.303G>A (p.Lys101=)
|
rs147052890
|
0.00072
|
NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp)
|
rs61746008
|
0.00070
|
NM_001032283.3(TMPO):c.350A>G (p.Asn117Ser)
|
rs141387097
|
0.00068
|
NM_003036.4(SKI):c.1593T>C (p.Pro531=)
|
rs144279718
|
0.00065
|
NM_001032283.3(TMPO):c.565+2149C>T
|
rs34150443
|
0.00064
|
NM_003238.6(TGFB2):c.823A>G (p.Ser275Gly)
|
rs139825195
|
0.00062
|
NM_003036.4(SKI):c.1528G>A (p.Ala510Thr)
|
rs61735580
|
0.00056
|
NM_000138.5(FBN1):c.3422C>T (p.Pro1141Leu)
|
rs2228241
|
0.00054
|
NM_000138.5(FBN1):c.7346A>G (p.Asn2449Ser)
|
rs146166400
|
0.00049
|
NM_001999.4(FBN2):c.5674+7A>G
|
rs367877964
|
0.00049
|
NM_001999.4(FBN2):c.8537G>A (p.Arg2846His)
|
rs200345491
|
0.00049
|
NM_003238.6(TGFB2):c.356C>T (p.Pro119Leu)
|
rs149533093
|
0.00047
|
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.4246A>G (p.Thr1416Ala)
|
rs200837433
|
0.00040
|
NM_001999.4(FBN2):c.209T>C (p.Val70Ala)
|
rs144149249
|
0.00039
|
NM_000138.5(FBN1):c.2895G>A (p.Glu965=)
|
rs140591
|
0.00038
|
NM_001032283.3(TMPO):c.565+1750C>G
|
rs142981381
|
0.00038
|
NM_001999.4(FBN2):c.8428T>A (p.Ser2810Thr)
|
rs186577030
|
0.00038
|
NM_000138.5(FBN1):c.1265G>A (p.Gly422Glu)
|
rs139968089
|
0.00035
|
NM_001999.4(FBN2):c.5031C>T (p.Cys1677=)
|
rs147452231
|
0.00035
|
NM_001999.4(FBN2):c.6511+4C>T
|
rs368610241
|
0.00035
|
NM_003036.4(SKI):c.1033G>A (p.Ala345Thr)
|
rs150934009
|
0.00035
|
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala)
|
rs201273753
|
0.00034
|
NM_001999.4(FBN2):c.3087C>T (p.Val1029=)
|
rs777392642
|
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_003036.4(SKI):c.948G>A (p.Lys316=)
|
rs368128582
|
0.00032
|
NM_003238.6(TGFB2):c.747A>G (p.Arg249=)
|
rs147960792
|
0.00032
|
NM_000138.5(FBN1):c.8363C>T (p.Thr2788Met)
|
rs143007898
|
0.00031
|
NM_001032283.3(TMPO):c.565+1493A>G
|
rs141347778
|
0.00031
|
NM_001999.4(FBN2):c.1256A>G (p.Asp419Gly)
|
rs140464202
|
0.00031
|
NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile)
|
rs183306990
|
0.00030
|
NM_001999.4(FBN2):c.3740T>C (p.Met1247Thr)
|
rs149054177
|
0.00030
|
NM_000138.5(FBN1):c.2175T>C (p.Asn725=)
|
rs140606
|
0.00029
|
NM_000138.5(FBN1):c.3058A>G (p.Thr1020Ala)
|
rs111801777
|
0.00029
|
NM_000138.5(FBN1):c.4750G>A (p.Glu1584Lys)
|
rs148888513
|
0.00029
|
NM_001999.4(FBN2):c.6946A>T (p.Ile2316Phe)
|
rs201220519
|
0.00029
|
NM_003036.4(SKI):c.312A>T (p.Val104=)
|
rs368195821
|
0.00029
|
NM_003239.5(TGFB3):c.354C>T (p.Asn118=)
|
rs145051522
|
0.00029
|
NM_000138.5(FBN1):c.7072G>A (p.Val2358Ile)
|
rs140537304
|
0.00028
|
NM_001999.4(FBN2):c.217C>A (p.Arg73Ser)
|
rs148493036
|
0.00028
|
NM_000138.5(FBN1):c.2187A>C (p.Leu729=)
|
rs61730055
|
0.00026
|
NM_000138.5(FBN1):c.539-15del
|
rs193922211
|
0.00026
|
NM_000138.5(FBN1):c.5423-4G>A
|
rs377036485
|
0.00026
|
NM_001999.4(FBN2):c.1850-9C>T
|
rs199937209
|
0.00026
|
NM_001999.4(FBN2):c.2651G>C (p.Ser884Thr)
|
rs139035999
|
0.00026
|
NM_003036.4(SKI):c.1302G>A (p.Pro434=)
|
rs111459205
|
0.00026
|
NM_003036.4(SKI):c.1384C>G (p.Pro462Ala)
|
rs199797772
|
0.00026
|
NM_000138.5(FBN1):c.7338C>T (p.Asn2446=)
|
rs140178192
|
0.00025
|
NM_001032283.3(TMPO):c.565+1748T>A
|
rs138388686
|
0.00025
|
NM_000138.5(FBN1):c.8445C>T (p.Leu2815=)
|
rs142304692
|
0.00024
|
NM_003036.4(SKI):c.1321C>T (p.Arg441Trp)
|
rs201613746
|
0.00024
|
NM_000138.5(FBN1):c.6314-15G>A
|
rs200841830
|
0.00023
|
NM_003036.4(SKI):c.2183C>T (p.Pro728Leu)
|
rs372950890
|
0.00023
|
NM_003239.5(TGFB3):c.193G>A (p.Val65Ile)
|
rs201059075
|
0.00023
|
NM_001032283.3(TMPO):c.252G>T (p.Ala84=)
|
rs727504659
|
0.00022
|
NM_001999.4(FBN2):c.5917+9T>G
|
rs371439173
|
0.00022
|
NM_000138.5(FBN1):c.1027G>A (p.Gly343Arg)
|
rs146726731
|
0.00021
|
NM_001999.4(FBN2):c.3394G>A (p.Val1132Ile)
|
rs138834515
|
0.00021
|
NM_001999.4(FBN2):c.5004C>T (p.Asn1668=)
|
rs140012679
|
0.00021
|
NM_001999.4(FBN2):c.8282C>T (p.Ala2761Val)
|
rs201962592
|
0.00021
|
NM_001999.4(FBN2):c.8595C>T (p.Pro2865=)
|
rs137914321
|
0.00020
|
NM_000138.5(FBN1):c.6705A>C (p.Gly2235=)
|
rs2229326
|
0.00019
|
NM_000138.5(FBN1):c.7852G>A (p.Gly2618Arg)
|
rs141133182
|
0.00019
|
NM_001999.4(FBN2):c.27C>G (p.Leu9=)
|
rs369714882
|
0.00019
|
NM_003036.4(SKI):c.2174A>C (p.Glu725Ala)
|
rs747798210
|
0.00019
|
NM_000138.5(FBN1):c.228C>T (p.Gly76=)
|
rs141651917
|
0.00018
|
NM_000138.5(FBN1):c.3590-8T>C
|
rs140600
|
0.00018
|
NM_000138.5(FBN1):c.4727T>C (p.Met1576Thr)
|
rs776625874
|
0.00018
|
NM_000138.5(FBN1):c.902G>T (p.Gly301Val)
|
rs142888621
|
0.00018
|
NM_000138.5(FBN1):c.6342A>C (p.Gly2114=)
|
rs374705586
|
0.00017
|
NM_001999.4(FBN2):c.1466-4G>A
|
rs371636769
|
0.00017
|
NM_001999.4(FBN2):c.7700C>T (p.Thr2567Ile)
|
rs150672907
|
0.00017
|
NM_000138.5(FBN1):c.59A>G (p.Tyr20Cys)
|
rs201309310
|
0.00016
|
NM_000138.5(FBN1):c.8027C>T (p.Pro2676Leu)
|
rs146469379
|
0.00016
|
NM_001032283.3(TMPO):c.534T>C (p.Asn178=)
|
rs200016687
|
0.00016
|
NM_001999.4(FBN2):c.3235G>T (p.Ala1079Ser)
|
rs774996980
|
0.00016
|
NM_003036.4(SKI):c.42C>T (p.His14=)
|
rs543603037
|
0.00016
|
NM_003036.4(SKI):c.799C>T (p.Leu267=)
|
rs140178396
|
0.00016
|
NM_000138.5(FBN1):c.3423G>A (p.Pro1141=)
|
rs140396599
|
0.00015
|
NM_000138.5(FBN1):c.7056C>T (p.Ser2352=)
|
rs149697299
|
0.00015
|
NM_001032283.3(TMPO):c.565+2376C>T
|
rs202035749
|
0.00015
|
NM_001999.4(FBN2):c.7569G>A (p.Leu2523=)
|
rs375141964
|
0.00015
|
NM_000138.5(FBN1):c.1571C>T (p.Thr524Met)
|
rs370575495
|
0.00014
|
NM_000138.5(FBN1):c.3936C>T (p.Ser1312=)
|
rs779913610
|
0.00014
|
NM_000138.5(FBN1):c.3964+19A>G
|
rs181287036
|
0.00014
|
NM_000138.5(FBN1):c.4001G>A (p.Gly1334Asp)
|
rs191989961
|
0.00014
|
NM_000138.5(FBN1):c.6288C>T (p.Cys2096=)
|
rs144822241
|
0.00014
|
NM_000138.5(FBN1):c.736+9G>A
|
rs368241741
|
0.00014
|
NM_000138.5(FBN1):c.7661G>A (p.Arg2554Gln)
|
rs199522781
|
0.00014
|
NM_001032283.3(TMPO):c.565+1469A>G
|
rs147812883
|
0.00014
|
NM_001999.4(FBN2):c.2536G>A (p.Glu846Lys)
|
rs375666281
|
0.00014
|
NM_001999.4(FBN2):c.2801G>A (p.Arg934Gln)
|
rs376194507
|
0.00014
|
NM_001999.4(FBN2):c.4642G>A (p.Val1548Ile)
|
rs140313460
|
0.00014
|
NM_001999.4(FBN2):c.68C>G (p.Ala23Gly)
|
rs199560824
|
0.00014
|
NM_001999.4(FBN2):c.7841-17C>T
|
rs371643668
|
0.00014
|
NM_003238.6(TGFB2):c.347-14C>G
|
rs371982231
|
0.00014
|
NM_000138.5(FBN1):c.4748-12T>A
|
rs368723745
|
0.00013
|
NM_000138.5(FBN1):c.6054C>T (p.Val2018=)
|
rs542953863
|
0.00013
|
NM_000138.5(FBN1):c.8232G>A (p.Gln2744=)
|
rs376119827
|
0.00013
|
NM_001999.4(FBN2):c.2252A>C (p.Glu751Ala)
|
rs147610681
|
0.00013
|
NM_001999.4(FBN2):c.4902C>T (p.Pro1634=)
|
rs201071253
|
0.00013
|
NM_003036.4(SKI):c.640A>G (p.Ser214Gly)
|
rs139179843
|
0.00013
|
NM_000138.5(FBN1):c.185G>A (p.Arg62His)
|
rs145942328
|
0.00012
|
NM_000138.5(FBN1):c.6576C>T (p.Cys2192=)
|
rs369058466
|
0.00012
|
NM_001999.4(FBN2):c.2469C>T (p.Asn823=)
|
rs770997817
|
0.00012
|
NM_001999.4(FBN2):c.2625T>C (p.Cys875=)
|
rs371502563
|
0.00012
|
NM_001999.4(FBN2):c.2990-14C>T
|
rs377500777
|
0.00012
|
NM_001999.4(FBN2):c.6077C>T (p.Ser2026Phe)
|
rs139668142
|
0.00012
|
NM_001999.4(FBN2):c.6334A>G (p.Lys2112Glu)
|
rs141707850
|
0.00012
|
NM_001999.4(FBN2):c.8192+8G>A
|
rs184132548
|
0.00012
|
NM_003036.4(SKI):c.1315G>A (p.Val439Ile)
|
rs575093513
|
0.00012
|
NM_003238.6(TGFB2):c.648G>A (p.Arg216=)
|
rs767503001
|
0.00012
|
NM_000138.5(FBN1):c.1323A>G (p.Pro441=)
|
rs202030761
|
0.00011
|
NM_000138.5(FBN1):c.1821T>C (p.Asp607=)
|
rs149133920
|
0.00011
|
NM_000138.5(FBN1):c.1838-6C>T
|
rs374629233
|
0.00011
|
NM_000138.5(FBN1):c.2289C>T (p.Cys763=)
|
rs181311020
|
0.00011
|
NM_000138.5(FBN1):c.3964+12C>T
|
rs371986991
|
0.00011
|
NM_000138.5(FBN1):c.4214T>G (p.Leu1405Arg)
|
rs767606368
|
0.00011
|
NM_000138.5(FBN1):c.7560G>A (p.Thr2520=)
|
rs760425899
|
0.00011
|
NM_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_003036.4(SKI):c.105G>A (p.Pro35=)
|
rs778180778
|
0.00011
|
NM_003036.4(SKI):c.1309G>A (p.Ala437Thr)
|
rs544709718
|
0.00011
|
NM_003036.4(SKI):c.1329C>T (p.Pro443=)
|
rs150033567
|
0.00011
|
NM_003036.4(SKI):c.1632C>T (p.His544=)
|
rs373914574
|
0.00011
|
NM_003036.4(SKI):c.970-5C>T
|
rs755318392
|
0.00011
|
NM_003238.6(TGFB2):c.297C>T (p.Tyr99=)
|
rs760759052
|
0.00011
|
NM_000138.5(FBN1):c.2094G>T (p.Pro698=)
|
rs144775475
|
0.00010
|
NM_000138.5(FBN1):c.3082+9T>A
|
rs746303949
|
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.3472+17C>A
|
rs747730357
|
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.8691G>A (p.Gly2897=)
|
rs184109554
|
0.00010
|
NM_003036.4(SKI):c.2141G>A (p.Arg714His)
|
rs754486257
|
0.00010
|
NM_003239.5(TGFB3):c.873G>A (p.Pro291=)
|
rs370006165
|
0.00010
|
NM_000138.5(FBN1):c.1588+20C>T
|
rs376488308
|
0.00009
|
NM_000138.5(FBN1):c.2232G>C (p.Gly744=)
|
rs762745991
|
0.00009
|
NM_000138.5(FBN1):c.3337+11G>A
|
rs368726848
|
0.00009
|
NM_000138.5(FBN1):c.4342G>A (p.Asp1448Asn)
|
rs371377334
|
0.00009
|
NM_000138.5(FBN1):c.5225-13T>G
|
rs367786211
|
0.00009
|
NM_000138.5(FBN1):c.5296+12C>T
|
rs566030960
|
0.00009
|
NM_000138.5(FBN1):c.7266A>G (p.Arg2422=)
|
rs532737688
|
0.00009
|
NM_000138.5(FBN1):c.942A>G (p.Lys314=)
|
rs376965275
|
0.00009
|
NM_001999.4(FBN2):c.3296G>A (p.Arg1099His)
|
rs202050092
|
0.00009
|
NM_001999.4(FBN2):c.3655A>G (p.Met1219Val)
|
rs201288931
|
0.00009
|
NM_001999.4(FBN2):c.3742A>G (p.Ile1248Val)
|
rs144933639
|
0.00009
|
NM_001999.4(FBN2):c.4763A>T (p.Asp1588Val)
|
rs202218356
|
0.00009
|
NM_001999.4(FBN2):c.5275A>C (p.Lys1759Gln)
|
rs201113098
|
0.00009
|
NM_001999.4(FBN2):c.5549-18G>A
|
rs371995872
|
0.00009
|
NM_001999.4(FBN2):c.7497G>A (p.Pro2499=)
|
rs756747736
|
0.00009
|
NM_001999.4(FBN2):c.8239C>G (p.Leu2747Val)
|
rs145353444
|
0.00009
|
NM_001999.4(FBN2):c.8289C>T (p.Tyr2763=)
|
rs190292877
|
0.00009
|
NM_001999.4(FBN2):c.8376C>G (p.Ile2792Met)
|
rs142747169
|
0.00009
|
NM_003036.4(SKI):c.1164G>A (p.Ala388=)
|
rs780171614
|
0.00009
|
NM_003036.4(SKI):c.1269G>A (p.Pro423=)
|
rs375600617
|
0.00009
|
NM_003036.4(SKI):c.1568C>T (p.Ser523Leu)
|
rs730880212
|
0.00009
|
NM_003036.4(SKI):c.897C>T (p.Arg299=)
|
rs773901705
|
0.00009
|
NM_003239.5(TGFB3):c.558C>T (p.Ile186=)
|
rs138389291
|
0.00009
|
NM_000138.5(FBN1):c.2079G>A (p.Gly693=)
|
rs374174497
|
0.00008
|
NM_000138.5(FBN1):c.2928C>T (p.Arg976=)
|
rs761997019
|
0.00008
|
NM_000138.5(FBN1):c.3171C>T (p.Ser1057=)
|
rs144400069
|
0.00008
|
NM_000138.5(FBN1):c.3226A>C (p.Ile1076Leu)
|
rs201156527
|
0.00008
|
NM_000138.5(FBN1):c.3429C>A (p.Gly1143=)
|
rs151232024
|
0.00008
|
NM_000138.5(FBN1):c.5297-19A>G
|
rs375665466
|
0.00008
|
NM_000138.5(FBN1):c.6038-15_6038-14del
|
rs752198920
|
0.00008
|
NM_001032283.3(TMPO):c.565+2387G>A
|
rs201034441
|
0.00008
|
NM_001999.4(FBN2):c.5637C>T (p.Ala1879=)
|
rs367620361
|
0.00008
|
NM_001999.4(FBN2):c.6597A>G (p.Pro2199=)
|
rs150305429
|
0.00008
|
NM_001999.4(FBN2):c.7212C>T (p.Leu2404=)
|
rs368506842
|
0.00008
|
NM_001999.4(FBN2):c.8124C>T (p.Tyr2708=)
|
rs201634501
|
0.00008
|
NM_003036.4(SKI):c.1109T>C (p.Val370Ala)
|
rs138088528
|
0.00008
|
NM_003036.4(SKI):c.170C>T (p.Ala57Val)
|
rs1389185868
|
0.00008
|
NM_003239.5(TGFB3):c.101A>G (p.His34Arg)
|
rs199791687
|
0.00008
|
NM_000138.5(FBN1):c.1327+12A>G
|
rs764788168
|
0.00007
|
NM_000138.5(FBN1):c.1363T>C (p.Leu455=)
|
rs557954342
|
0.00007
|
NM_000138.5(FBN1):c.5963C>T (p.Thr1988Ile)
|
rs142912485
|
0.00007
|
NM_000138.5(FBN1):c.6372A>G (p.Ser2124=)
|
rs397515832
|
0.00007
|
NM_000138.5(FBN1):c.6942C>T (p.Tyr2314=)
|
rs372967546
|
0.00007
|
NM_001032283.3(TMPO):c.565+1472G>A
|
rs375628010
|
0.00007
|
NM_001999.4(FBN2):c.2198C>G (p.Pro733Arg)
|
rs745528502
|
0.00007
|
NM_001999.4(FBN2):c.3839C>T (p.Ser1280Leu)
|
rs200481467
|
0.00007
|
NM_001999.4(FBN2):c.3964A>G (p.Thr1322Ala)
|
rs367614052
|
0.00007
|
NM_001999.4(FBN2):c.4035G>A (p.Lys1345=)
|
rs772465221
|
0.00007
|
NM_001999.4(FBN2):c.4298G>A (p.Arg1433His)
|
rs143462011
|
0.00007
|
NM_001999.4(FBN2):c.5447C>T (p.Pro1816Leu)
|
rs149537608
|
0.00007
|
NM_001999.4(FBN2):c.6063C>T (p.Val2021=)
|
rs149380208
|
0.00007
|
NM_001999.4(FBN2):c.6512-7A>G
|
rs201462445
|
0.00007
|
NM_001999.4(FBN2):c.8085C>T (p.Asp2695=)
|
rs765452930
|
0.00007
|
NM_003238.6(TGFB2):c.217A>G (p.Ser73Gly)
|
rs753391734
|
0.00007
|
NM_000138.5(FBN1):c.124G>C (p.Ala42Pro)
|
rs377722423
|
0.00006
|
NM_000138.5(FBN1):c.1961-14T>C
|
rs373918202
|
0.00006
|
NM_000138.5(FBN1):c.2434G>A (p.Glu812Lys)
|
rs201778577
|
0.00006
|
NM_000138.5(FBN1):c.273T>C (p.Asp91=)
|
rs375450755
|
0.00006
|
NM_000138.5(FBN1):c.2793G>T (p.Gly931=)
|
rs775785545
|
0.00006
|
NM_000138.5(FBN1):c.2835C>T (p.Ala945=)
|
rs140389544
|
0.00006
|
NM_000138.5(FBN1):c.2901C>T (p.Cys967=)
|
rs755610084
|
0.00006
|
NM_000138.5(FBN1):c.3082+13G>A
|
rs757559866
|
0.00006
|
NM_000138.5(FBN1):c.3464-6C>T
|
rs375596551
|
0.00006
|
NM_000138.5(FBN1):c.4150A>G (p.Met1384Val)
|
rs775543440
|
0.00006
|
NM_000138.5(FBN1):c.4337-14T>C
|
rs78068079
|
0.00006
|
NM_000138.5(FBN1):c.4875C>G (p.Thr1625=)
|
rs140628
|
0.00006
|
NM_000138.5(FBN1):c.4986A>G (p.Thr1662=)
|
rs753705796
|
0.00006
|
NM_000138.5(FBN1):c.4998C>G (p.Thr1666=)
|
rs141925790
|
0.00006
|
NM_000138.5(FBN1):c.5066-13dup
|
rs774517414
|
0.00006
|
NM_000138.5(FBN1):c.5097C>T (p.Tyr1699=)
|
rs368979510
|
0.00006
|
NM_000138.5(FBN1):c.5516A>T (p.Tyr1839Phe)
|
rs758725993
|
0.00006
|
NM_000138.5(FBN1):c.6164-3C>T
|
rs571365493
|
0.00006
|
NM_000138.5(FBN1):c.6302C>T (p.Thr2101Met)
|
rs200816828
|
0.00006
|
NM_000138.5(FBN1):c.6834C>T (p.Pro2278=)
|
rs397515839
|
0.00006
|
NM_000138.5(FBN1):c.7204+7C>G
|
rs371763964
|
0.00006
|
NM_000138.5(FBN1):c.7516G>A (p.Gly2506Ser)
|
rs756295016
|
0.00006
|
NM_000138.5(FBN1):c.8071G>A (p.Gly2691Ser)
|
rs145105768
|
0.00006
|
NM_000138.5(FBN1):c.8310C>T (p.His2770=)
|
rs112189340
|
0.00006
|
NM_000138.5(FBN1):c.988+20G>A
|
rs375760654
|
0.00006
|
NM_001032283.3(TMPO):c.249C>T (p.Ala83=)
|
rs747943302
|
0.00006
|
NM_001032283.3(TMPO):c.565+1709T>C
|
rs374855899
|
0.00006
|
NM_001999.4(FBN2):c.1666T>C (p.Tyr556His)
|
rs1256710897
|
0.00006
|
NM_001999.4(FBN2):c.2508G>A (p.Thr836=)
|
rs372872626
|
0.00006
|
NM_001999.4(FBN2):c.3045C>T (p.Pro1015=)
|
rs371640952
|
0.00006
|
NM_001999.4(FBN2):c.3883G>A (p.Asp1295Asn)
|
rs759131544
|
0.00006
|
NM_001999.4(FBN2):c.3908C>T (p.Pro1303Leu)
|
rs144505094
|
0.00006
|
NM_001999.4(FBN2):c.4757G>C (p.Arg1586Pro)
|
rs143195229
|
0.00006
|
NM_001999.4(FBN2):c.5423-8C>A
|
rs1195073601
|
0.00006
|
NM_001999.4(FBN2):c.5853C>T (p.Thr1951=)
|
rs377133710
|
0.00006
|
NM_001999.4(FBN2):c.5855T>C (p.Val1952Ala)
|
rs372879535
|
0.00006
|
NM_001999.4(FBN2):c.6433A>G (p.Lys2145Glu)
|
rs766271753
|
0.00006
|
NM_001999.4(FBN2):c.7583A>G (p.Lys2528Arg)
|
rs749623269
|
0.00006
|
NM_001999.4(FBN2):c.7690C>G (p.Gln2564Glu)
|
rs373970388
|
0.00006
|
NM_001999.4(FBN2):c.7808T>C (p.Phe2603Ser)
|
rs374507398
|
0.00006
|
NM_001999.4(FBN2):c.803A>G (p.Asn268Ser)
|
rs760817242
|
0.00006
|
NM_001999.4(FBN2):c.8086G>A (p.Val2696Met)
|
rs373994051
|
0.00006
|
NM_003036.4(SKI):c.1162G>A (p.Ala388Thr)
|
rs376736872
|
0.00006
|
NM_003036.4(SKI):c.1182C>T (p.Ser394=)
|
rs542616415
|
0.00006
|
NM_003036.4(SKI):c.1211+10C>T
|
rs200242660
|
0.00006
|
NM_003036.4(SKI):c.1271C>T (p.Pro424Leu)
|
rs764317955
|
0.00006
|
NM_003036.4(SKI):c.1710C>T (p.Arg570=)
|
rs766067033
|
0.00006
|
NM_003036.4(SKI):c.1923G>A (p.Leu641=)
|
rs199666240
|
0.00006
|
NM_003036.4(SKI):c.360C>T (p.Arg120=)
|
rs375024753
|
0.00006
|
NM_003036.4(SKI):c.567G>C (p.Leu189=)
|
rs752411031
|
0.00006
|
NM_003238.6(TGFB2):c.1140C>T (p.Cys380=)
|
rs201129153
|
0.00006
|
NM_003238.6(TGFB2):c.11G>A (p.Cys4Tyr)
|
rs776628524
|
0.00006
|
NM_003238.6(TGFB2):c.644-4C>T
|
rs11466408
|
0.00006
|
NM_003239.5(TGFB3):c.504C>T (p.Ile168=)
|
rs148029842
|
0.00006
|
NM_003239.5(TGFB3):c.517-6C>G
|
rs45586636
|
0.00006
|
NM_003239.5(TGFB3):c.96C>T (p.Phe32=)
|
rs748977151
|
0.00006
|
NM_000138.5(FBN1):c.1147+7G>A
|
rs373156788
|
0.00005
|
NM_000138.5(FBN1):c.1272A>G (p.Gln424=)
|
rs763710172
|
0.00005
|
NM_000138.5(FBN1):c.2445T>G (p.Pro815=)
|
rs368004231
|
0.00005
|
NM_000138.5(FBN1):c.247+10T>C
|
rs367618012
|
0.00005
|
NM_000138.5(FBN1):c.2927G>A (p.Arg976His)
|
rs140954477
|
0.00005
|
NM_000138.5(FBN1):c.346+16C>T
|
rs369090026
|
0.00005
|
NM_000138.5(FBN1):c.4321G>A (p.Gly1441Arg)
|
rs372118067
|
0.00005
|
NM_000138.5(FBN1):c.6699C>T (p.Pro2233=)
|
rs372386014
|
0.00005
|
NM_000138.5(FBN1):c.6852T>C (p.Pro2284=)
|
rs201226058
|
0.00005
|
NM_000138.5(FBN1):c.7964C>T (p.Ala2655Val)
|
rs202240409
|
0.00005
|
NM_000138.5(FBN1):c.7965G>A (p.Ala2655=)
|
rs199887650
|
0.00005
|
NM_000138.5(FBN1):c.8149G>A (p.Glu2717Lys)
|
rs187553035
|
0.00005
|
NM_000138.5(FBN1):c.83A>G (p.Asn28Ser)
|
rs193922245
|
0.00005
|
NM_001032283.3(TMPO):c.13C>T (p.Leu5=)
|
rs149067616
|
0.00005
|
NM_001032283.3(TMPO):c.565+1413A>G
|
rs57670957
|
0.00005
|
NM_001999.4(FBN2):c.1078+9C>T
|
rs371692018
|
0.00005
|
NM_001999.4(FBN2):c.1885A>G (p.Asn629Asp)
|
rs863223554
|
0.00005
|
NM_001999.4(FBN2):c.3149C>T (p.Thr1050Met)
|
rs150506063
|
0.00005
|
NM_001999.4(FBN2):c.3249G>T (p.Met1083Ile)
|
rs146143173
|
0.00005
|
NM_001999.4(FBN2):c.3584G>A (p.Arg1195His)
|
rs751600209
|
0.00005
|
NM_001999.4(FBN2):c.3690A>G (p.Gly1230=)
|
rs774807410
|
0.00005
|
NM_001999.4(FBN2):c.4328A>T (p.Asp1443Val)
|
rs751400994
|
0.00005
|
NM_001999.4(FBN2):c.4773G>T (p.Leu1591=)
|
rs753387547
|
0.00005
|
NM_001999.4(FBN2):c.5494C>T (p.Arg1832Cys)
|
rs778519094
|
0.00005
|
NM_001999.4(FBN2):c.5674+18T>G
|
rs199749609
|
0.00005
|
NM_003036.4(SKI):c.1096-5G>A
|
rs566936949
|
0.00005
|
NM_003036.4(SKI):c.1212-15C>T
|
rs200904079
|
0.00005
|
NM_003036.4(SKI):c.1212-8C>T
|
rs370921440
|
0.00005
|
NM_003036.4(SKI):c.1242C>T (p.Ala414=)
|
rs757550300
|
0.00005
|
NM_003036.4(SKI):c.1263C>T (p.Leu421=)
|
rs773045410
|
0.00005
|
NM_003036.4(SKI):c.450C>T (p.Cys150=)
|
rs538703800
|
0.00005
|
NM_003238.6(TGFB2):c.1008C>T (p.His336=)
|
rs886038528
|
0.00005
|
NM_000138.5(FBN1):c.1116C>T (p.Val372=)
|
rs774193938
|
0.00004
|
NM_000138.5(FBN1):c.1242T>G (p.Pro414=)
|
rs371929738
|
0.00004
|
NM_000138.5(FBN1):c.1290A>G (p.Pro430=)
|
rs749526018
|
0.00004
|
NM_000138.5(FBN1):c.1602T>C (p.Cys534=)
|
rs377386372
|
0.00004
|
NM_000138.5(FBN1):c.1880G>A (p.Arg627His)
|
rs746073643
|
0.00004
|
NM_000138.5(FBN1):c.1884C>T (p.Cys628=)
|
rs150421653
|
0.00004
|
NM_000138.5(FBN1):c.2075T>A (p.Phe692Tyr)
|
rs955639059
|
0.00004
|
NM_000138.5(FBN1):c.2168-19G>T
|
rs777612162
|
0.00004
|
NM_000138.5(FBN1):c.2168-6G>A
|
rs200924505
|
0.00004
|
NM_000138.5(FBN1):c.2419+13T>A
|
rs372885314
|
0.00004
|
NM_000138.5(FBN1):c.2596A>G (p.Ile866Val)
|
rs794728329
|
0.00004
|
NM_000138.5(FBN1):c.2600A>G (p.Asn867Ser)
|
rs145464311
|
0.00004
|
NM_000138.5(FBN1):c.2637C>T (p.Leu879=)
|
rs202163602
|
0.00004
|
NM_000138.5(FBN1):c.3246C>T (p.Gly1082=)
|
rs138855754
|
0.00004
|
NM_000138.5(FBN1):c.3295G>A (p.Glu1099Lys)
|
rs763485521
|
0.00004
|
NM_000138.5(FBN1):c.3415G>C (p.Glu1139Gln)
|
rs780972853
|
0.00004
|
NM_000138.5(FBN1):c.3462C>T (p.Ile1154=)
|
rs144339604
|
0.00004
|
NM_000138.5(FBN1):c.347-15T>C
|
rs749417882
|
0.00004
|
NM_000138.5(FBN1):c.3503A>G (p.Asn1168Ser)
|
rs776667707
|
0.00004
|
NM_000138.5(FBN1):c.3838+20T>C
|
rs772287702
|
0.00004
|
NM_000138.5(FBN1):c.3896C>T (p.Thr1299Met)
|
rs774851476
|
0.00004
|
NM_000138.5(FBN1):c.405A>G (p.Leu135=)
|
rs187254268
|
0.00004
|
NM_000138.5(FBN1):c.4095C>T (p.Asp1365=)
|
rs375402043
|
0.00004
|
NM_000138.5(FBN1):c.4163G>A (p.Arg1388His)
|
rs749196340
|
0.00004
|
NM_000138.5(FBN1):c.4336+7G>T
|
rs760603409
|
0.00004
|
NM_000138.5(FBN1):c.4337-9C>T
|
rs201001403
|
0.00004
|
NM_000138.5(FBN1):c.4371C>T (p.Val1457=)
|
rs781641370
|
0.00004
|
NM_000138.5(FBN1):c.4804G>A (p.Val1602Ile)
|
rs780957696
|
0.00004
|
NM_000138.5(FBN1):c.492T>C (p.Asn164=)
|
rs778007582
|
0.00004
|
NM_000138.5(FBN1):c.538+4A>G
|
rs375721252
|
0.00004
|
NM_000138.5(FBN1):c.5442C>T (p.Asn1814=)
|
rs397515822
|
0.00004
|
NM_000138.5(FBN1):c.5717G>A (p.Arg1906Gln)
|
rs774798866
|
0.00004
|
NM_000138.5(FBN1):c.5724A>G (p.Thr1908=)
|
rs141219664
|
0.00004
|
NM_000138.5(FBN1):c.5842A>G (p.Ile1948Val)
|
rs766850261
|
0.00004
|
NM_000138.5(FBN1):c.5921T>C (p.Ile1974Thr)
|
rs765878996
|
0.00004
|
NM_000138.5(FBN1):c.6052G>A (p.Val2018Ile)
|
rs363802
|
0.00004
|
NM_000138.5(FBN1):c.6055G>A (p.Glu2019Lys)
|
rs377149130
|
0.00004
|
NM_000138.5(FBN1):c.6497-11G>A
|
rs183200505
|
0.00004
|
NM_000138.5(FBN1):c.7210G>A (p.Asp2404Asn)
|
rs530059069
|
0.00004
|
NM_000138.5(FBN1):c.7230C>T (p.His2410=)
|
rs193922231
|
0.00004
|
NM_000138.5(FBN1):c.7700-13G>C
|
rs775509707
|
0.00004
|
NM_000138.5(FBN1):c.7819+15C>T
|
rs772164887
|
0.00004
|
NM_000138.5(FBN1):c.8004C>T (p.Gly2668=)
|
rs371285755
|
0.00004
|
NM_000138.5(FBN1):c.8542A>C (p.Lys2848Gln)
|
rs199846998
|
0.00004
|
NM_001032283.3(TMPO):c.270C>G (p.Ala90=)
|
rs538702194
|
0.00004
|
NM_001032283.3(TMPO):c.280-8G>A
|
rs943754313
|
0.00004
|
NM_001032283.3(TMPO):c.565+1277G>A
|
rs766680788
|
0.00004
|
NM_001032283.3(TMPO):c.565+1304T>A
|
rs142500409
|
0.00004
|
NM_001032283.3(TMPO):c.565+1574G>A
|
rs756784841
|
0.00004
|
NM_001032283.3(TMPO):c.565+1958G>T
|
rs143845319
|
0.00004
|
NM_001999.4(FBN2):c.1078+12A>C
|
rs769211487
|
0.00004
|
NM_001999.4(FBN2):c.1140G>A (p.Pro380=)
|
rs532059159
|
0.00004
|
NM_001999.4(FBN2):c.1195G>A (p.Gly399Arg)
|
rs142228933
|
0.00004
|
NM_001999.4(FBN2):c.1968T>C (p.Cys656=)
|
rs750685055
|
0.00004
|
NM_001999.4(FBN2):c.202G>T (p.Ala68Ser)
|
rs767317022
|
0.00004
|
NM_001999.4(FBN2):c.2358C>T (p.Asn786=)
|
rs371981691
|
0.00004
|
NM_001999.4(FBN2):c.2555-6T>C
|
rs376507178
|
0.00004
|
NM_001999.4(FBN2):c.2812+7G>A
|
rs373320057
|
0.00004
|
NM_001999.4(FBN2):c.3393C>T (p.Cys1131=)
|
rs760695805
|
0.00004
|
NM_001999.4(FBN2):c.3511G>A (p.Gly1171Ser)
|
rs775844150
|
0.00004
|
NM_001999.4(FBN2):c.3701C>T (p.Thr1234Met)
|
rs368105987
|
0.00004
|
NM_001999.4(FBN2):c.377G>A (p.Arg126His)
|
rs528614556
|
0.00004
|
NM_001999.4(FBN2):c.3805A>G (p.Ser1269Gly)
|
rs765649978
|
0.00004
|
NM_001999.4(FBN2):c.3920G>A (p.Arg1307His)
|
rs139428175
|
0.00004
|
NM_001999.4(FBN2):c.4222+10C>A
|
rs376700480
|
0.00004
|
NM_001999.4(FBN2):c.4297C>T (p.Arg1433Cys)
|
rs374493286
|
0.00004
|
NM_001999.4(FBN2):c.4724G>A (p.Arg1575His)
|
rs776040052
|
0.00004
|
NM_001999.4(FBN2):c.5200+11A>C
|
rs863223545
|
0.00004
|
NM_001999.4(FBN2):c.5681A>G (p.Asn1894Ser)
|
rs750837082
|
0.00004
|
NM_001999.4(FBN2):c.5847A>G (p.Lys1949=)
|
rs751378266
|
0.00004
|
NM_001999.4(FBN2):c.6073G>A (p.Gly2025Ser)
|
rs772994944
|
0.00004
|
NM_001999.4(FBN2):c.6293-8T>A
|
rs375682913
|
0.00004
|
NM_001999.4(FBN2):c.645G>A (p.Pro215=)
|
rs764473594
|
0.00004
|
NM_001999.4(FBN2):c.704C>T (p.Thr235Met)
|
rs367767903
|
0.00004
|
NM_001999.4(FBN2):c.7339G>A (p.Gly2447Arg)
|
rs764998447
|
0.00004
|
NM_001999.4(FBN2):c.7719C>T (p.Asn2573=)
|
rs746265117
|
0.00004
|
NM_001999.4(FBN2):c.7878C>T (p.His2626=)
|
rs587780943
|
0.00004
|
NM_001999.4(FBN2):c.8168C>T (p.Pro2723Leu)
|
rs746473847
|
0.00004
|
NM_001999.4(FBN2):c.8193-13T>C
|
rs376023293
|
0.00004
|
NM_001999.4(FBN2):c.8193-19C>T
|
rs771472324
|
0.00004
|
NM_001999.4(FBN2):c.8406C>T (p.Pro2802=)
|
rs764836656
|
0.00004
|
NM_001999.4(FBN2):c.8444A>C (p.Lys2815Thr)
|
rs757028268
|
0.00004
|
NM_001999.4(FBN2):c.8678A>T (p.Asp2893Val)
|
rs863223615
|
0.00004
|
NM_001999.4(FBN2):c.968G>A (p.Ser323Asn)
|
rs747748647
|
0.00004
|
NM_003036.4(SKI):c.1080C>T (p.Ala360=)
|
rs200557598
|
0.00004
|
NM_003036.4(SKI):c.1096-6C>T
|
rs201304370
|
0.00004
|
NM_003036.4(SKI):c.1258G>A (p.Ala420Thr)
|
rs771862077
|
0.00004
|
NM_003036.4(SKI):c.1406C>T (p.Ala469Val)
|
rs746659856
|
0.00004
|
NM_003036.4(SKI):c.1456G>A (p.Val486Ile)
|
rs200717031
|
0.00004
|
NM_003036.4(SKI):c.1619C>T (p.Ala540Val)
|
rs764786977
|
0.00004
|
NM_003036.4(SKI):c.1711G>A (p.Val571Met)
|
rs190373826
|
0.00004
|
NM_003036.4(SKI):c.1767+12G>A
|
rs772577806
|
0.00004
|
NM_003036.4(SKI):c.227T>C (p.Leu76Pro)
|
rs753070477
|
0.00004
|
NM_003036.4(SKI):c.543C>T (p.Asp181=)
|
rs766957830
|
0.00004
|
NM_003036.4(SKI):c.696G>A (p.Leu232=)
|
rs748272908
|
0.00004
|
NM_003036.4(SKI):c.726C>T (p.Ala242=)
|
rs139227600
|
0.00004
|
NM_003036.4(SKI):c.978T>G (p.Ser326=)
|
rs759010691
|
0.00004
|
NM_003238.6(TGFB2):c.1053G>A (p.Pro351=)
|
rs142741166
|
0.00004
|
NM_003238.6(TGFB2):c.555C>T (p.Ile185=)
|
rs760740958
|
0.00004
|
NM_003238.6(TGFB2):c.603C>T (p.Phe201=)
|
rs377264861
|
0.00004
|
NM_003238.6(TGFB2):c.984G>A (p.Arg328=)
|
rs147678881
|
0.00004
|
NM_003239.5(TGFB3):c.192C>T (p.His64=)
|
rs374423962
|
0.00004
|
NM_003239.5(TGFB3):c.213C>T (p.Ala71=)
|
rs753250192
|
0.00004
|
NM_003239.5(TGFB3):c.351C>T (p.His117=)
|
rs375232060
|
0.00004
|
NM_003239.5(TGFB3):c.519C>T (p.Ile173=)
|
rs754898843
|
0.00004
|
NM_003239.5(TGFB3):c.755-7T>G
|
rs750868828
|
0.00004
|
NM_003239.5(TGFB3):c.926+17A>G
|
rs374932970
|
0.00004
|
NM_000138.5(FBN1):c.1158C>T (p.Asn386=)
|
rs368737502
|
0.00003
|
NM_000138.5(FBN1):c.1277C>T (p.Pro426Leu)
|
rs146044644
|
0.00003
|
NM_000138.5(FBN1):c.139G>A (p.Gly47Ser)
|
rs762400500
|
0.00003
|
NM_000138.5(FBN1):c.1668G>A (p.Val556=)
|
rs761662654
|
0.00003
|
NM_000138.5(FBN1):c.1747C>T (p.Leu583Phe)
|
rs767293952
|
0.00003
|
NM_000138.5(FBN1):c.2056G>A (p.Ala686Thr)
|
rs377621293
|
0.00003
|
NM_000138.5(FBN1):c.2142G>A (p.Gly714=)
|
rs1423523072
|
0.00003
|
NM_000138.5(FBN1):c.2658G>A (p.Pro886=)
|
rs193922192
|
0.00003
|
NM_000138.5(FBN1):c.2728+20A>C
|
rs765993846
|
0.00003
|
NM_000138.5(FBN1):c.2729-8C>G
|
rs775257418
|
0.00003
|
NM_000138.5(FBN1):c.2735A>G (p.Asp912Gly)
|
rs754919275
|
0.00003
|
NM_000138.5(FBN1):c.3216C>T (p.Asp1072=)
|
rs757177349
|
0.00003
|
NM_000138.5(FBN1):c.3480G>A (p.Glu1160=)
|
rs149625173
|
0.00003
|
NM_000138.5(FBN1):c.3523A>G (p.Ile1175Val)
|
rs756754760
|
0.00003
|
NM_000138.5(FBN1):c.378A>G (p.Gly126=)
|
rs149611106
|
0.00003
|
NM_000138.5(FBN1):c.3906A>G (p.Ser1302=)
|
rs756186103
|
0.00003
|
NM_000138.5(FBN1):c.4337-5C>G
|
rs370959127
|
0.00003
|
NM_000138.5(FBN1):c.4413G>A (p.Glu1471=)
|
rs756143911
|
0.00003
|
NM_000138.5(FBN1):c.442+15G>T
|
rs369470506
|
0.00003
|
NM_000138.5(FBN1):c.442+19T>C
|
rs757466131
|
0.00003
|
NM_000138.5(FBN1):c.4460-9C>T
|
rs372753740
|
0.00003
|
NM_000138.5(FBN1):c.4583-11A>G
|
rs780024463
|
0.00003
|
NM_000138.5(FBN1):c.4650C>T (p.Ser1550=)
|
rs933962712
|
0.00003
|
NM_000138.5(FBN1):c.4719T>C (p.Pro1573=)
|
rs761947423
|
0.00003
|
NM_000138.5(FBN1):c.4803C>T (p.Thr1601=)
|
rs747757998
|
0.00003
|
NM_000138.5(FBN1):c.5066-7C>G
|
rs377369765
|
0.00003
|
NM_000138.5(FBN1):c.5466C>T (p.Ala1822=)
|
rs947248042
|
0.00003
|
NM_000138.5(FBN1):c.5671+7A>G
|
rs751170564
|
0.00003
|
NM_000138.5(FBN1):c.5841C>T (p.Cys1947=)
|
rs151181806
|
0.00003
|
NM_000138.5(FBN1):c.6189G>A (p.Ala2063=)
|
rs375624881
|
0.00003
|
NM_000138.5(FBN1):c.6314-16A>G
|
rs759468929
|
0.00003
|
NM_000138.5(FBN1):c.6314-17G>A
|
rs370991477
|
0.00003
|
NM_000138.5(FBN1):c.6338A>T (p.Tyr2113Phe)
|
rs363816
|
0.00003
|
NM_000138.5(FBN1):c.7395T>C (p.Ser2465=)
|
rs774341590
|
0.00003
|
NM_000138.5(FBN1):c.7677T>C (p.Asp2559=)
|
rs182358927
|
0.00003
|
NM_000138.5(FBN1):c.7842T>G (p.Ala2614=)
|
rs764496589
|
0.00003
|
NM_000138.5(FBN1):c.7872C>T (p.Asn2624=)
|
rs539185798
|
0.00003
|
NM_000138.5(FBN1):c.8069T>G (p.Met2690Arg)
|
rs747476726
|
0.00003
|
NM_000138.5(FBN1):c.8202C>T (p.Asn2734=)
|
rs113904256
|
0.00003
|
NM_000138.5(FBN1):c.8433G>A (p.Gly2811=)
|
rs771873118
|
0.00003
|
NM_000138.5(FBN1):c.8616A>G (p.Ter2872=)
|
rs374499193
|
0.00003
|
NM_001032283.3(TMPO):c.213C>G (p.Arg71=)
|
rs910746839
|
0.00003
|
NM_001032283.3(TMPO):c.330A>G (p.Leu110=)
|
rs776054749
|
0.00003
|
NM_001032283.3(TMPO):c.565+1287A>G
|
rs534940271
|
0.00003
|
NM_001032283.3(TMPO):c.565+1301A>G
|
rs375249647
|
0.00003
|
NM_001032283.3(TMPO):c.565+1616T>C
|
rs147635314
|
0.00003
|
NM_001032283.3(TMPO):c.565+1982A>C
|
rs766190912
|
0.00003
|
NM_001032283.3(TMPO):c.565+2504G>A
|
rs145677259
|
0.00003
|
NM_001999.4(FBN2):c.1091G>A (p.Gly364Asp)
|
rs762615993
|
0.00003
|
NM_001999.4(FBN2):c.1410C>A (p.Gly470=)
|
rs750103822
|
0.00003
|
NM_001999.4(FBN2):c.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.2634G>A (p.Ser878=)
|
rs143905167
|
0.00003
|
NM_001999.4(FBN2):c.2674+10A>G
|
rs371734006
|
0.00003
|
NM_001999.4(FBN2):c.3279C>T (p.Ile1093=)
|
rs142809999
|
0.00003
|
NM_001999.4(FBN2):c.3702G>A (p.Thr1234=)
|
rs374833053
|
0.00003
|
NM_001999.4(FBN2):c.3709C>T (p.Arg1237Cys)
|
rs746570981
|
0.00003
|
NM_001999.4(FBN2):c.3710G>T (p.Arg1237Leu)
|
rs142185964
|
0.00003
|
NM_001999.4(FBN2):c.3840G>A (p.Ser1280=)
|
rs372613935
|
0.00003
|
NM_001999.4(FBN2):c.3980A>G (p.Asn1327Ser)
|
rs762567430
|
0.00003
|
NM_001999.4(FBN2):c.4103T>C (p.Val1368Ala)
|
rs28763942
|
0.00003
|
NM_001999.4(FBN2):c.4290C>T (p.Gly1430=)
|
rs773650336
|
0.00003
|
NM_001999.4(FBN2):c.4551C>T (p.Cys1517=)
|
rs144018137
|
0.00003
|
NM_001999.4(FBN2):c.4785C>T (p.Thr1595=)
|
rs756084999
|
0.00003
|
NM_001999.4(FBN2):c.4914C>T (p.Gly1638=)
|
rs1482008222
|
0.00003
|
NM_001999.4(FBN2):c.49G>A (p.Gly17Ser)
|
rs1085307788
|
0.00003
|
NM_001999.4(FBN2):c.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.6057G>A (p.Glu2019=)
|
rs752114619
|
0.00003
|
NM_001999.4(FBN2):c.629-19T>C
|
rs374428361
|
0.00003
|
NM_001999.4(FBN2):c.6411G>A (p.Gly2137=)
|
rs552637321
|
0.00003
|
NM_001999.4(FBN2):c.6439G>A (p.Asp2147Asn)
|
rs370650204
|
0.00003
|
NM_001999.4(FBN2):c.6909C>T (p.His2303=)
|
rs762440824
|
0.00003
|
NM_001999.4(FBN2):c.6986G>A (p.Arg2329Gln)
|
rs370804151
|
0.00003
|
NM_001999.4(FBN2):c.7338T>C (p.Asp2446=)
|
rs751824761
|
0.00003
|
NM_001999.4(FBN2):c.7477G>A (p.Asp2493Asn)
|
rs779483120
|
0.00003
|
NM_001999.4(FBN2):c.7587A>G (p.Thr2529=)
|
rs145809024
|
0.00003
|
NM_001999.4(FBN2):c.7756G>A (p.Gly2586Arg)
|
rs747305733
|
0.00003
|
NM_001999.4(FBN2):c.8046G>T (p.Ser2682=)
|
rs771507975
|
0.00003
|
NM_001999.4(FBN2):c.8112C>T (p.Asn2704=)
|
rs370851605
|
0.00003
|
NM_001999.4(FBN2):c.8192+7C>T
|
rs376135657
|
0.00003
|
NM_001999.4(FBN2):c.81C>T (p.Ala27=)
|
rs746484599
|
0.00003
|
NM_001999.4(FBN2):c.8253C>T (p.Val2751=)
|
rs140631421
|
0.00003
|
NM_001999.4(FBN2):c.8305G>A (p.Gly2769Ser)
|
rs372206279
|
0.00003
|
NM_001999.4(FBN2):c.8469C>T (p.Pro2823=)
|
rs371397121
|
0.00003
|
NM_001999.4(FBN2):c.8596G>A (p.Gly2866Ser)
|
rs752201545
|
0.00003
|
NM_001999.4(FBN2):c.8701G>A (p.Glu2901Lys)
|
rs781069799
|
0.00003
|
NM_001999.4(FBN2):c.93G>T (p.Gln31His)
|
rs371491169
|
0.00003
|
NM_003036.4(SKI):c.1187A>G (p.His396Arg)
|
rs987527805
|
0.00003
|
NM_003036.4(SKI):c.1272G>A (p.Pro424=)
|
rs552946737
|
0.00003
|
NM_003036.4(SKI):c.1556G>A (p.Arg519His)
|
rs376322470
|
0.00003
|
NM_003036.4(SKI):c.1866G>A (p.Glu622=)
|
rs748886393
|
0.00003
|
NM_003036.4(SKI):c.1877A>T (p.Lys626Met)
|
rs774106502
|
0.00003
|
NM_003036.4(SKI):c.1935G>T (p.Arg645=)
|
rs751933078
|
0.00003
|
NM_003036.4(SKI):c.1999-19C>T
|
rs1367620764
|
0.00003
|
NM_003036.4(SKI):c.2112G>A (p.Glu704=)
|
rs1034542455
|
0.00003
|
NM_003036.4(SKI):c.2154G>T (p.Ala718=)
|
rs778456446
|
0.00003
|
NM_003036.4(SKI):c.336C>T (p.Cys112=)
|
rs752031916
|
0.00003
|
NM_003036.4(SKI):c.393G>A (p.Leu131=)
|
rs748004059
|
0.00003
|
NM_003036.4(SKI):c.844C>A (p.Arg282=)
|
rs753783431
|
0.00003
|
NM_003036.4(SKI):c.970-7A>G
|
rs199634070
|
0.00003
|
NM_003238.6(TGFB2):c.330C>T (p.Pro110=)
|
rs150348450
|
0.00003
|
NM_003238.6(TGFB2):c.745A>C (p.Arg249=)
|
rs201845761
|
0.00003
|
NM_003239.5(TGFB3):c.1185C>T (p.Thr395=)
|
rs753453972
|
0.00003
|
NM_003239.5(TGFB3):c.591C>T (p.Ala197=)
|
rs375090568
|
0.00003
|
NM_003239.5(TGFB3):c.948T>C (p.Cys316=)
|
rs1364994786
|
0.00003
|
NM_000138.5(FBN1):c.1147+20T>C
|
rs746088095
|
0.00002
|
NM_000138.5(FBN1):c.1547G>A (p.Arg516Gln)
|
rs775489067
|
0.00002
|
NM_000138.5(FBN1):c.1562G>A (p.Ser521Asn)
|
rs749253325
|
0.00002
|
NM_000138.5(FBN1):c.1566A>G (p.Thr522=)
|
rs531264662
|
0.00002
|
NM_000138.5(FBN1):c.164+9A>G
|
rs773997652
|
0.00002
|
NM_000138.5(FBN1):c.1692A>T (p.Thr564=)
|
rs1323581379
|
0.00002
|
NM_000138.5(FBN1):c.1961-7T>C
|
rs878853675
|
0.00002
|
NM_000138.5(FBN1):c.19C>T (p.Leu7=)
|
rs139161583
|
0.00002
|
NM_000138.5(FBN1):c.2093C>T (p.Pro698Leu)
|
rs764827921
|
0.00002
|
NM_000138.5(FBN1):c.2154G>A (p.Thr718=)
|
rs377033515
|
0.00002
|
NM_000138.5(FBN1):c.2419+7C>T
|
rs773155136
|
0.00002
|
NM_000138.5(FBN1):c.2502T>A (p.Ser834=)
|
rs754372754
|
0.00002
|
NM_000138.5(FBN1):c.2678-14G>A
|
rs369475895
|
0.00002
|
NM_000138.5(FBN1):c.2855-10C>T
|
rs1044021136
|
0.00002
|
NM_000138.5(FBN1):c.2878C>T (p.Leu960=)
|
rs1469750878
|
0.00002
|
NM_000138.5(FBN1):c.2883G>T (p.Arg961Ser)
|
rs142964120
|
0.00002
|
NM_000138.5(FBN1):c.2911A>G (p.Ile971Val)
|
rs766660415
|
0.00002
|
NM_000138.5(FBN1):c.2949C>T (p.Ser983=)
|
rs769307676
|
0.00002
|
NM_000138.5(FBN1):c.2950G>A (p.Val984Ile)
|
rs747713929
|
0.00002
|
NM_000138.5(FBN1):c.3142A>G (p.Ile1048Val)
|
rs2229324
|
0.00002
|
NM_000138.5(FBN1):c.3359A>T (p.Asp1120Val)
|
rs1183556572
|
0.00002
|
NM_000138.5(FBN1):c.3374G>A (p.Arg1125Gln)
|
rs768831064
|
0.00002
|
NM_000138.5(FBN1):c.3410G>A (p.Arg1137His)
|
rs137854456
|
0.00002
|
NM_000138.5(FBN1):c.3453C>T (p.Ser1151=)
|
rs748759748
|
0.00002
|
NM_000138.5(FBN1):c.3456G>A (p.Ala1152=)
|
rs777442762
|
0.00002
|
NM_000138.5(FBN1):c.347-16C>G
|
rs752093190
|
0.00002
|
NM_000138.5(FBN1):c.3513C>T (p.Cys1171=)
|
rs775417975
|
0.00002
|
NM_000138.5(FBN1):c.3777A>C (p.Gly1259=)
|
rs1404903351
|
0.00002
|
NM_000138.5(FBN1):c.3785G>A (p.Arg1262Lys)
|
rs371103773
|
0.00002
|
NM_000138.5(FBN1):c.4026A>G (p.Thr1342=)
|
rs752154066
|
0.00002
|
NM_000138.5(FBN1):c.4088-5A>G
|
rs534913868
|
0.00002
|
NM_000138.5(FBN1):c.4488G>A (p.Thr1496=)
|
rs370494288
|
0.00002
|
NM_000138.5(FBN1):c.468T>C (p.Asn156=)
|
rs757577615
|
0.00002
|
NM_000138.5(FBN1):c.4748-6C>T
|
rs376611471
|
0.00002
|
NM_000138.5(FBN1):c.4842A>G (p.Pro1614=)
|
rs779362502
|
0.00002
|
NM_000138.5(FBN1):c.4999G>A (p.Val1667Ile)
|
rs140626
|
0.00002
|
NM_000138.5(FBN1):c.5190C>T (p.Asn1730=)
|
rs765997414
|
0.00002
|
NM_000138.5(FBN1):c.5292C>T (p.Pro1764=)
|
rs111756438
|
0.00002
|
NM_000138.5(FBN1):c.5423-5C>T
|
rs368750818
|
0.00002
|
NM_000138.5(FBN1):c.5443G>A (p.Gly1815Ser)
|
rs745680336
|
0.00002
|
NM_000138.5(FBN1):c.5463C>T (p.Asn1821=)
|
rs753966383
|
0.00002
|
NM_000138.5(FBN1):c.5467G>A (p.Glu1823Lys)
|
rs567397762
|
0.00002
|
NM_000138.5(FBN1):c.5918-12T>G
|
rs751115639
|
0.00002
|
NM_000138.5(FBN1):c.6129G>C (p.Gly2043=)
|
rs766473100
|
0.00002
|
NM_000138.5(FBN1):c.6180C>T (p.Tyr2060=)
|
rs974604498
|
0.00002
|
NM_000138.5(FBN1):c.62C>T (p.Thr21Met)
|
rs1489806847
|
0.00002
|
NM_000138.5(FBN1):c.6379+11T>C
|
rs370322263
|
0.00002
|
NM_000138.5(FBN1):c.6379+4A>G
|
rs780370404
|
0.00002
|
NM_000138.5(FBN1):c.6387C>T (p.Asp2129=)
|
rs147342485
|
0.00002
|
NM_000138.5(FBN1):c.6872-12A>G
|
rs568325297
|
0.00002
|
NM_000138.5(FBN1):c.6998-7C>T
|
rs764823572
|
0.00002
|
NM_000138.5(FBN1):c.7231G>A (p.Asp2411Asn)
|
rs775558051
|
0.00002
|
NM_000138.5(FBN1):c.7283T>C (p.Ile2428Thr)
|
rs565474071
|
0.00002
|
NM_000138.5(FBN1):c.7454-6T>C
|
rs1253572031
|
0.00002
|
NM_000138.5(FBN1):c.7501G>C (p.Val2501Leu)
|
rs371110611
|
0.00002
|
NM_000138.5(FBN1):c.7524A>G (p.Thr2508=)
|
rs201992942
|
0.00002
|
NM_000138.5(FBN1):c.7533T>C (p.Cys2511=)
|
rs750331217
|
0.00002
|
NM_000138.5(FBN1):c.7575C>T (p.Asn2525=)
|
rs759021474
|
0.00002
|
NM_000138.5(FBN1):c.7683C>T (p.Thr2561=)
|
rs758353830
|
0.00002
|
NM_000138.5(FBN1):c.7701C>T (p.Asp2567=)
|
rs368054842
|
0.00002
|
NM_000138.5(FBN1):c.8130C>T (p.Leu2710=)
|
rs372105662
|
0.00002
|
NM_000138.5(FBN1):c.8227-10G>A
|
rs765093559
|
0.00002
|
NM_000138.5(FBN1):c.832A>G (p.Lys278Glu)
|
rs775505429
|
0.00002
|
NM_000138.5(FBN1):c.8386G>A (p.Glu2796Lys)
|
rs112310699
|
0.00002
|
NM_000138.5(FBN1):c.8533C>T (p.Leu2845=)
|
rs767060377
|
0.00002
|
NM_000138.5(FBN1):c.8G>C (p.Arg3Pro)
|
rs149929989
|
0.00002
|
NM_001032283.3(TMPO):c.153G>A (p.Pro51=)
|
rs755323971
|
0.00002
|
NM_001032283.3(TMPO):c.51G>A (p.Lys17=)
|
rs766680931
|
0.00002
|
NM_001032283.3(TMPO):c.565+1232C>T
|
rs369897433
|
0.00002
|
NM_001032283.3(TMPO):c.565+2150A>G
|
rs200856956
|
0.00002
|
NM_001999.4(FBN2):c.1079-10A>G
|
rs766920012
|
0.00002
|
NM_001999.4(FBN2):c.1194C>T (p.Ile398=)
|
rs766004910
|
0.00002
|
NM_001999.4(FBN2):c.1253T>C (p.Met418Thr)
|
rs769840338
|
0.00002
|
NM_001999.4(FBN2):c.125C>T (p.Pro42Leu)
|
rs773011327
|
0.00002
|
NM_001999.4(FBN2):c.1333A>G (p.Ser445Gly)
|
rs143515269
|
0.00002
|
NM_001999.4(FBN2):c.1410C>T (p.Gly470=)
|
rs750103822
|
0.00002
|
NM_001999.4(FBN2):c.1422C>T (p.Ala474=)
|
rs764073494
|
0.00002
|
NM_001999.4(FBN2):c.1434C>T (p.Ala478=)
|
rs755786214
|
0.00002
|
NM_001999.4(FBN2):c.150T>C (p.Ala50=)
|
rs543546489
|
0.00002
|
NM_001999.4(FBN2):c.1553G>A (p.Arg518Gln)
|
rs748051713
|
0.00002
|
NM_001999.4(FBN2):c.1685C>T (p.Ala562Val)
|
rs886059902
|
0.00002
|
NM_001999.4(FBN2):c.1734G>C (p.Glu578Asp)
|
rs371046485
|
0.00002
|
NM_001999.4(FBN2):c.1849+8A>G
|
rs747219934
|
0.00002
|
NM_001999.4(FBN2):c.1911C>G (p.Gly637=)
|
rs537558351
|
0.00002
|
NM_001999.4(FBN2):c.1961G>A (p.Arg654His)
|
rs780589159
|
0.00002
|
NM_001999.4(FBN2):c.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.2638G>A (p.Gly880Ser)
|
rs555682061
|
0.00002
|
NM_001999.4(FBN2):c.2772C>T (p.Leu924=)
|
rs773453872
|
0.00002
|
NM_001999.4(FBN2):c.2802G>A (p.Arg934=)
|
rs140500093
|
0.00002
|
NM_001999.4(FBN2):c.2902A>G (p.Asn968Asp)
|
rs774248421
|
0.00002
|
NM_001999.4(FBN2):c.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.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.5097T>A (p.His1699Gln)
|
rs757807339
|
0.00002
|
NM_001999.4(FBN2):c.5126A>G (p.Tyr1709Cys)
|
rs759117573
|
0.00002
|
NM_001999.4(FBN2):c.533-6A>G
|
rs56400997
|
0.00002
|
NM_001999.4(FBN2):c.5574T>C (p.Asp1858=)
|
rs757483263
|
0.00002
|
NM_001999.4(FBN2):c.5678G>A (p.Arg1893His)
|
rs368384428
|
0.00002
|
NM_001999.4(FBN2):c.5703C>T (p.Asn1901=)
|
rs746592808
|
0.00002
|
NM_001999.4(FBN2):c.5787G>A (p.Gln1929=)
|
rs746307443
|
0.00002
|
NM_001999.4(FBN2):c.5819G>A (p.Arg1940Gln)
|
rs749907917
|
0.00002
|
NM_001999.4(FBN2):c.5854G>A (p.Val1952Ile)
|
rs763393398
|
0.00002
|
NM_001999.4(FBN2):c.5941T>A (p.Phe1981Ile)
|
rs527609978
|
0.00002
|
NM_001999.4(FBN2):c.629-6T>C
|
rs757696693
|
0.00002
|
NM_001999.4(FBN2):c.672G>T (p.Met224Ile)
|
rs371292311
|
0.00002
|
NM_001999.4(FBN2):c.6881-5T>G
|
rs772186151
|
0.00002
|
NM_001999.4(FBN2):c.6973C>T (p.Pro2325Ser)
|
rs751231315
|
0.00002
|
NM_001999.4(FBN2):c.6984C>T (p.Ala2328=)
|
rs942158485
|
0.00002
|
NM_001999.4(FBN2):c.69G>T (p.Ala23=)
|
rs774856011
|
0.00002
|
NM_001999.4(FBN2):c.6G>C (p.Gly2=)
|
rs746567292
|
0.00002
|
NM_001999.4(FBN2):c.7137T>G (p.Leu2379=)
|
rs765676702
|
0.00002
|
NM_001999.4(FBN2):c.7138+10C>T
|
rs1187342807
|
0.00002
|
NM_001999.4(FBN2):c.7213G>A (p.Val2405Ile)
|
rs753865904
|
0.00002
|
NM_001999.4(FBN2):c.7247G>A (p.Arg2416Gln)
|
rs755437836
|
0.00002
|
NM_001999.4(FBN2):c.7389T>A (p.Gly2463=)
|
rs749843181
|
0.00002
|
NM_001999.4(FBN2):c.7400A>G (p.Asn2467Ser)
|
rs562508529
|
0.00002
|
NM_001999.4(FBN2):c.7595-13T>C
|
rs747620496
|
0.00002
|
NM_001999.4(FBN2):c.7660T>G (p.Phe2554Val)
|
rs775848753
|
0.00002
|
NM_001999.4(FBN2):c.7960+13T>G
|
rs1023942727
|
0.00002
|
NM_001999.4(FBN2):c.7961-10G>A
|
rs752746367
|
0.00002
|
NM_001999.4(FBN2):c.8019G>C (p.Leu2673=)
|
rs144013739
|
0.00002
|
NM_001999.4(FBN2):c.8573C>T (p.Thr2858Met)
|
rs754475064
|
0.00002
|
NM_001999.4(FBN2):c.891C>A (p.Gly297=)
|
rs539258943
|
0.00002
|
NM_003036.4(SKI):c.1034C>T (p.Ala345Val)
|
rs201599402
|
0.00002
|
NM_003036.4(SKI):c.1059C>T (p.Ser353=)
|
rs375991331
|
0.00002
|
NM_003036.4(SKI):c.1153G>A (p.Ala385Thr)
|
rs758235470
|
0.00002
|
NM_003036.4(SKI):c.1211+17C>T
|
rs753878221
|
0.00002
|
NM_003036.4(SKI):c.1382C>T (p.Thr461Ile)
|
rs141464453
|
0.00002
|
NM_003036.4(SKI):c.1400C>T (p.Thr467Met)
|
rs752151031
|
0.00002
|
NM_003036.4(SKI):c.1553C>T (p.Ala518Val)
|
rs776056360
|
0.00002
|
NM_003036.4(SKI):c.1569G>A (p.Ser523=)
|
rs767052019
|
0.00002
|
NM_003036.4(SKI):c.1596C>T (p.Ala532=)
|
rs752673852
|
0.00002
|
NM_003036.4(SKI):c.1599C>T (p.Asp533=)
|
rs758323266
|
0.00002
|
NM_003036.4(SKI):c.1654G>A (p.Gly552Ser)
|
rs1010245755
|
0.00002
|
NM_003036.4(SKI):c.1967C>T (p.Ala656Val)
|
rs571976990
|
0.00002
|
NM_003036.4(SKI):c.2013G>A (p.Gln671=)
|
rs1040803635
|
0.00002
|
NM_003036.4(SKI):c.209C>T (p.Pro70Leu)
|
rs994969301
|
0.00002
|
NM_003036.4(SKI):c.2165G>A (p.Gly722Asp)
|
rs1488554459
|
0.00002
|
NM_003036.4(SKI):c.762C>T (p.Tyr254=)
|
rs56352201
|
0.00002
|
NM_003036.4(SKI):c.930A>G (p.Lys310=)
|
rs751629802
|
0.00002
|
NM_003036.4(SKI):c.975C>T (p.Ser325=)
|
rs753145672
|
0.00002
|
NM_003036.4(SKI):c.985C>T (p.Pro329Ser)
|
rs770539313
|
0.00002
|
NM_003238.6(TGFB2):c.1087-13T>G
|
rs374394434
|
0.00002
|
NM_003238.6(TGFB2):c.456T>C (p.Phe152=)
|
rs372071268
|
0.00002
|
NM_003238.6(TGFB2):c.798T>A (p.Thr266=)
|
rs376354795
|
0.00002
|
NM_003239.5(TGFB3):c.1134C>T (p.Cys378=)
|
rs780993645
|
0.00002
|
NM_003239.5(TGFB3):c.324C>T (p.Phe108=)
|
rs779502039
|
0.00002
|
NM_003239.5(TGFB3):c.693C>T (p.Thr231=)
|
rs780510419
|
0.00002
|
NM_000138.5(FBN1):c.1026C>T (p.Asn342=)
|
rs769282306
|
0.00001
|
NM_000138.5(FBN1):c.1086C>T (p.Ala362=)
|
rs1338617046
|
0.00001
|
NM_000138.5(FBN1):c.1091G>A (p.Arg364Gln)
|
rs536588176
|
0.00001
|
NM_000138.5(FBN1):c.1108G>T (p.Val370Phe)
|
rs1191931914
|
0.00001
|
NM_000138.5(FBN1):c.1117G>A (p.Ala373Thr)
|
rs766162654
|
0.00001
|
NM_000138.5(FBN1):c.1131T>C (p.Cys377=)
|
rs769211348
|
0.00001
|
NM_000138.5(FBN1):c.1147+16G>A
|
rs780632581
|
0.00001
|
NM_000138.5(FBN1):c.1167C>T (p.Cys389=)
|
rs746201757
|
0.00001
|
NM_000138.5(FBN1):c.1169C>T (p.Ser390Phe)
|
rs746385384
|
0.00001
|
NM_000138.5(FBN1):c.1215C>A (p.Pro405=)
|
rs1213208601
|
0.00001
|
NM_000138.5(FBN1):c.1235T>A (p.Val412Asp)
|
rs764925097
|
0.00001
|
NM_000138.5(FBN1):c.1289C>T (p.Pro430Leu)
|
rs771134832
|
0.00001
|
NM_000138.5(FBN1):c.1344C>T (p.Asn448=)
|
rs1281826850
|
0.00001
|
NM_000138.5(FBN1):c.1368C>G (p.Val456=)
|
rs1433264110
|
0.00001
|
NM_000138.5(FBN1):c.1373A>G (p.Tyr458Cys)
|
rs749133312
|
0.00001
|
NM_000138.5(FBN1):c.1407T>G (p.Pro469=)
|
rs1016146856
|
0.00001
|
NM_000138.5(FBN1):c.1494C>T (p.Pro498=)
|
rs765595961
|
0.00001
|
NM_000138.5(FBN1):c.1533C>T (p.Tyr511=)
|
rs1060504146
|
0.00001
|
NM_000138.5(FBN1):c.1572G>A (p.Thr524=)
|
rs1232119767
|
0.00001
|
NM_000138.5(FBN1):c.15T>C (p.Arg5=)
|
rs1371787168
|
0.00001
|
NM_000138.5(FBN1):c.1603T>A (p.Leu535Ile)
|
rs1485432119
|
0.00001
|
NM_000138.5(FBN1):c.1605A>G (p.Leu535=)
|
rs778013543
|
0.00001
|
NM_000138.5(FBN1):c.1639A>G (p.Ile547Val)
|
rs759813328
|
0.00001
|
NM_000138.5(FBN1):c.164+12G>A
|
rs571164659
|
0.00001
|
NM_000138.5(FBN1):c.164+18C>T
|
rs772382145
|
0.00001
|
NM_000138.5(FBN1):c.1647A>T (p.Thr549=)
|
rs2043746264
|
0.00001
|
NM_000138.5(FBN1):c.165-13G>A
|
rs985235880
|
0.00001
|
NM_000138.5(FBN1):c.165-7G>A
|
rs397515761
|
0.00001
|
NM_000138.5(FBN1):c.165-9T>C
|
rs758117122
|
0.00001
|
NM_000138.5(FBN1):c.1653C>T (p.Gly551=)
|
rs766565738
|
0.00001
|
NM_000138.5(FBN1):c.1694G>A (p.Arg565Gln)
|
rs763815231
|
0.00001
|
NM_000138.5(FBN1):c.1714+10G>A
|
rs760474361
|
0.00001
|
NM_000138.5(FBN1):c.1715-12T>C
|
rs1057521270
|
0.00001
|
NM_000138.5(FBN1):c.1715-14T>G
|
rs753746089
|
0.00001
|
NM_000138.5(FBN1):c.1731C>T (p.Ser577=)
|
rs1453708754
|
0.00001
|
NM_000138.5(FBN1):c.174C>A (p.Val58=)
|
rs369096927
|
0.00001
|
NM_000138.5(FBN1):c.1776C>G (p.Gly592=)
|
rs759191650
|
0.00001
|
NM_000138.5(FBN1):c.1779T>C (p.Ser593=)
|
rs372195702
|
0.00001
|
NM_000138.5(FBN1):c.1837+10A>G
|
rs2043731034
|
0.00001
|
NM_000138.5(FBN1):c.1838-7G>A
|
rs772849691
|
0.00001
|
NM_000138.5(FBN1):c.1845C>T (p.Asn615=)
|
rs932735615
|
0.00001
|
NM_000138.5(FBN1):c.1856C>A (p.Thr619Asn)
|
rs377686210
|
0.00001
|
NM_000138.5(FBN1):c.1858C>T (p.Pro620Ser)
|
rs1220853793
|
0.00001
|
NM_000138.5(FBN1):c.1960+17G>A
|
rs749990136
|
0.00001
|
NM_000138.5(FBN1):c.2020T>C (p.Leu674=)
|
rs753453348
|
0.00001
|
NM_000138.5(FBN1):c.2058C>A (p.Ala686=)
|
rs759859967
|
0.00001
|
NM_000138.5(FBN1):c.207T>C (p.Pro69=)
|
rs771057822
|
0.00001
|
NM_000138.5(FBN1):c.2082A>G (p.Glu694=)
|
rs773288488
|
0.00001
|
NM_000138.5(FBN1):c.2090A>G (p.Gln697Arg)
|
rs769708437
|
0.00001
|
NM_000138.5(FBN1):c.2113+13A>G
|
rs755529582
|
0.00001
|
NM_000138.5(FBN1):c.2113+17A>G
|
rs1246446564
|
0.00001
|
NM_000138.5(FBN1):c.2113+19A>T
|
rs541501178
|
0.00001
|
NM_000138.5(FBN1):c.2113+8G>A
|
rs763708195
|
0.00001
|
NM_000138.5(FBN1):c.2127A>C (p.Ala709=)
|
rs886038990
|
0.00001
|
NM_000138.5(FBN1):c.2228G>A (p.Arg743His)
|
rs761942436
|
0.00001
|
NM_000138.5(FBN1):c.2253T>C (p.Asn751=)
|
rs1566912218
|
0.00001
|
NM_000138.5(FBN1):c.2293+16C>G
|
rs772889439
|
0.00001
|
NM_000138.5(FBN1):c.2294-19A>C
|
rs1353634853
|
0.00001
|
NM_000138.5(FBN1):c.2349T>C (p.Asn783=)
|
rs1057522903
|
0.00001
|
NM_000138.5(FBN1):c.2393A>G (p.Tyr798Cys)
|
rs1064793112
|
0.00001
|
NM_000138.5(FBN1):c.2406A>G (p.Leu802=)
|
rs1490836069
|
0.00001
|
NM_000138.5(FBN1):c.2433C>T (p.Cys811=)
|
rs193921256
|
0.00001
|
NM_000138.5(FBN1):c.2531T>C (p.Ile844Thr)
|
rs751564716
|
0.00001
|
NM_000138.5(FBN1):c.2540-7T>C
|
rs749692510
|
0.00001
|
NM_000138.5(FBN1):c.2568T>G (p.Thr856=)
|
rs781607814
|
0.00001
|
NM_000138.5(FBN1):c.2577T>C (p.Asp859=)
|
rs779997664
|
0.00001
|
NM_000138.5(FBN1):c.2598C>T (p.Ile866=)
|
rs752457534
|
0.00001
|
NM_000138.5(FBN1):c.261T>C (p.His87=)
|
rs775220887
|
0.00001
|
NM_000138.5(FBN1):c.2628C>T (p.Cys876=)
|
rs112085967
|
0.00001
|
NM_000138.5(FBN1):c.2634C>T (p.Ser878=)
|
rs770395971
|
0.00001
|
NM_000138.5(FBN1):c.2640T>G (p.Gly880=)
|
rs1597568836
|
0.00001
|
NM_000138.5(FBN1):c.2683A>G (p.Ile895Val)
|
rs772308703
|
0.00001
|
NM_000138.5(FBN1):c.2711A>G (p.Lys904Arg)
|
rs778951277
|
0.00001
|
NM_000138.5(FBN1):c.2748G>A (p.Val916=)
|
rs1339922695
|
0.00001
|
NM_000138.5(FBN1):c.2771G>T (p.Gly924Val)
|
rs1206476337
|
0.00001
|
NM_000138.5(FBN1):c.2855-4A>G
|
rs769851513
|
0.00001
|
NM_000138.5(FBN1):c.285G>A (p.Ser95=)
|
rs745596276
|
0.00001
|
NM_000138.5(FBN1):c.2883G>A (p.Arg961=)
|
rs142964120
|
0.00001
|
NM_000138.5(FBN1):c.2886C>T (p.Tyr962=)
|
rs772108557
|
0.00001
|
NM_000138.5(FBN1):c.2979C>T (p.Cys993=)
|
rs150126098
|
0.00001
|
NM_000138.5(FBN1):c.2991C>A (p.Pro997=)
|
rs1225275544
|
0.00001
|
NM_000138.5(FBN1):c.3021G>A (p.Leu1007=)
|
rs764203356
|
0.00001
|
NM_000138.5(FBN1):c.3036C>T (p.Pro1012=)
|
rs766194667
|
0.00001
|
NM_000138.5(FBN1):c.3128A>G (p.Lys1043Arg)
|
rs137854472
|
0.00001
|
NM_000138.5(FBN1):c.3209-6G>A
|
rs942309418
|
0.00001
|
NM_000138.5(FBN1):c.3209-9T>C
|
rs1188743312
|
0.00001
|
NM_000138.5(FBN1):c.3255G>A (p.Gln1085=)
|
rs767088495
|
0.00001
|
NM_000138.5(FBN1):c.3330C>T (p.Asn1110=)
|
rs374584763
|
0.00001
|
NM_000138.5(FBN1):c.3337+20A>G
|
rs757193641
|
0.00001
|
NM_000138.5(FBN1):c.3348G>A (p.Glu1116=)
|
rs1183230087
|
0.00001
|
NM_000138.5(FBN1):c.3369A>G (p.Leu1123=)
|
rs1245413946
|
0.00001
|
NM_000138.5(FBN1):c.3464-19C>G
|
rs928322808
|
0.00001
|
NM_000138.5(FBN1):c.347-19C>A
|
rs755487996
|
0.00001
|
NM_000138.5(FBN1):c.3522C>T (p.Leu1174=)
|
rs778312047
|
0.00001
|
NM_000138.5(FBN1):c.353A>G (p.His118Arg)
|
rs765503809
|
0.00001
|
NM_000138.5(FBN1):c.3560A>G (p.His1187Arg)
|
rs193922200
|
0.00001
|
NM_000138.5(FBN1):c.3570C>T (p.Pro1190=)
|
rs188317014
|
0.00001
|
NM_000138.5(FBN1):c.3571G>A (p.Asp1191Asn)
|
rs370121450
|
0.00001
|
NM_000138.5(FBN1):c.3654C>T (p.Ser1218=)
|
rs760712674
|
0.00001
|
NM_000138.5(FBN1):c.3674C>T (p.Pro1225Leu)
|
rs775532488
|
0.00001
|
NM_000138.5(FBN1):c.3688A>C (p.Met1230Leu)
|
rs759424465
|
0.00001
|
NM_000138.5(FBN1):c.3693T>C (p.Pro1231=)
|
rs1364910158
|
0.00001
|
NM_000138.5(FBN1):c.3713-5T>C
|
rs1412125032
|
0.00001
|
NM_000138.5(FBN1):c.3717C>T (p.Ile1239=)
|
rs759387957
|
0.00001
|
NM_000138.5(FBN1):c.3762C>T (p.Cys1254=)
|
rs1555398286
|
0.00001
|
NM_000138.5(FBN1):c.3834T>C (p.Cys1278=)
|
rs886039492
|
0.00001
|
NM_000138.5(FBN1):c.3845A>G (p.Asn1282Ser)
|
rs140647
|
0.00001
|
NM_000138.5(FBN1):c.3897G>A (p.Thr1299=)
|
rs771283158
|
0.00001
|
NM_000138.5(FBN1):c.393C>T (p.Asp131=)
|
rs549054625
|
0.00001
|
NM_000138.5(FBN1):c.4056C>T (p.Pro1352=)
|
rs766969494
|
0.00001
|
NM_000138.5(FBN1):c.4059G>T (p.Gly1353=)
|
rs886038250
|
0.00001
|
NM_000138.5(FBN1):c.4075A>G (p.Ile1359Val)
|
rs202192505
|
0.00001
|
NM_000138.5(FBN1):c.4089T>C (p.Asp1363=)
|
rs751099175
|
0.00001
|
NM_000138.5(FBN1):c.4106A>G (p.Asn1369Ser)
|
rs370923981
|
0.00001
|
NM_000138.5(FBN1):c.4161C>T (p.Tyr1387=)
|
rs1332403498
|
0.00001
|
NM_000138.5(FBN1):c.4170G>A (p.Leu1390=)
|
rs1229052328
|
0.00001
|
NM_000138.5(FBN1):c.4211-18G>A
|
rs532573637
|
0.00001
|
NM_000138.5(FBN1):c.4218T>C (p.Asp1406=)
|
rs759712586
|
0.00001
|
NM_000138.5(FBN1):c.4250A>G (p.Asn1417Ser)
|
rs768531262
|
0.00001
|
NM_000138.5(FBN1):c.4251T>C (p.Asn1417=)
|
rs1428390270
|
0.00001
|
NM_000138.5(FBN1):c.426G>A (p.Gly142=)
|
rs1391070461
|
0.00001
|
NM_000138.5(FBN1):c.4272A>G (p.Pro1424=)
|
rs1187173937
|
0.00001
|
NM_000138.5(FBN1):c.4313G>A (p.Ser1438Asn)
|
rs587782945
|
0.00001
|
NM_000138.5(FBN1):c.4320C>T (p.Asp1440=)
|
rs375157552
|
0.00001
|
NM_000138.5(FBN1):c.4336+10G>C
|
rs1475499953
|
0.00001
|
NM_000138.5(FBN1):c.4337-6C>G
|
rs1225924246
|
0.00001
|
NM_000138.5(FBN1):c.4359G>A (p.Pro1453=)
|
rs748551052
|
0.00001
|
NM_000138.5(FBN1):c.4401G>T (p.Leu1467=)
|
rs747377334
|
0.00001
|
NM_000138.5(FBN1):c.442+17T>A
|
rs779385878
|
0.00001
|
NM_000138.5(FBN1):c.4428C>T (p.Tyr1476=)
|
rs767462642
|
0.00001
|
NM_000138.5(FBN1):c.4446C>T (p.Gly1482=)
|
rs772727859
|
0.00001
|
NM_000138.5(FBN1):c.4492A>G (p.Ile1498Val)
|
rs761187818
|
0.00001
|
NM_000138.5(FBN1):c.4527T>C (p.Tyr1509=)
|
rs776021250
|
0.00001
|
NM_000138.5(FBN1):c.4583-5A>C
|
rs778966916
|
0.00001
|
NM_000138.5(FBN1):c.465C>A (p.Leu155=)
|
rs1287033860
|
0.00001
|
NM_000138.5(FBN1):c.4695T>A (p.Ser1565=)
|
rs1891548285
|
0.00001
|
NM_000138.5(FBN1):c.4707C>G (p.Ala1569=)
|
rs397515813
|
0.00001
|
NM_000138.5(FBN1):c.4736C>T (p.Ala1579Val)
|
rs772009116
|
0.00001
|
NM_000138.5(FBN1):c.4747+7G>A
|
rs967122284
|
0.00001
|
NM_000138.5(FBN1):c.4748-9T>C
|
rs760640909
|
0.00001
|
NM_000138.5(FBN1):c.4817-10A>G
|
rs368644662
|
0.00001
|
NM_000138.5(FBN1):c.4824T>C (p.Asp1608=)
|
rs1057521341
|
0.00001
|
NM_000138.5(FBN1):c.4895G>A (p.Arg1632His)
|
rs756227025
|
0.00001
|
NM_000138.5(FBN1):c.4926T>C (p.Asp1642=)
|
rs140629
|
0.00001
|
NM_000138.5(FBN1):c.5007C>T (p.Asn1669=)
|
rs1267512714
|
0.00001
|
NM_000138.5(FBN1):c.5142G>A (p.Met1714Ile)
|
rs368287795
|
0.00001
|
NM_000138.5(FBN1):c.5184G>A (p.Ala1728=)
|
rs754660497
|
0.00001
|
NM_000138.5(FBN1):c.5225-19C>T
|
rs375761937
|
0.00001
|
NM_000138.5(FBN1):c.5225-7A>G
|
rs761196321
|
0.00001
|
NM_000138.5(FBN1):c.5268C>A (p.Val1756=)
|
rs764685311
|
0.00001
|
NM_000138.5(FBN1):c.5283C>T (p.Thr1761=)
|
rs373887214
|
0.00001
|
NM_000138.5(FBN1):c.5296+13G>A
|
rs781168268
|
0.00001
|
NM_000138.5(FBN1):c.5312G>A (p.Arg1771Gln)
|
rs759791896
|
0.00001
|
NM_000138.5(FBN1):c.5340A>C (p.Gly1780=)
|
rs766501385
|
0.00001
|
NM_000138.5(FBN1):c.5423-15C>A
|
rs1426894149
|
0.00001
|
NM_000138.5(FBN1):c.5430C>T (p.Asp1810=)
|
rs765338162
|
0.00001
|
NM_000138.5(FBN1):c.5441A>G (p.Asn1814Ser)
|
rs775463311
|
0.00001
|
NM_000138.5(FBN1):c.5481T>G (p.Thr1827=)
|
rs1261752884
|
0.00001
|
NM_000138.5(FBN1):c.5511C>T (p.Pro1837=)
|
rs372767912
|
0.00001
|
NM_000138.5(FBN1):c.5545+10G>C
|
rs1231571005
|
0.00001
|
NM_000138.5(FBN1):c.5546-4A>C
|
rs919423974
|
0.00001
|
NM_000138.5(FBN1):c.5585A>G (p.His1862Arg)
|
rs976161721
|
0.00001
|
NM_000138.5(FBN1):c.5596A>G (p.Ile1866Val)
|
rs367586350
|
0.00001
|
NM_000138.5(FBN1):c.5603C>T (p.Thr1868Ile)
|
rs145082616
|
0.00001
|
NM_000138.5(FBN1):c.5671+11_5671+13dup
|
rs779987733
|
0.00001
|
NM_000138.5(FBN1):c.573C>T (p.Ser191=)
|
rs749627551
|
0.00001
|
NM_000138.5(FBN1):c.5753A>G (p.His1918Arg)
|
rs993464239
|
0.00001
|
NM_000138.5(FBN1):c.5805A>C (p.Ala1935=)
|
rs755825254
|
0.00001
|
NM_000138.5(FBN1):c.5817G>A (p.Gly1939=)
|
rs767097888
|
0.00001
|
NM_000138.5(FBN1):c.5876A>G (p.Asn1959Ser)
|
rs773486280
|
0.00001
|
NM_000138.5(FBN1):c.5991A>G (p.Arg1997=)
|
rs201346996
|
0.00001
|
NM_000138.5(FBN1):c.6025G>A (p.Glu2009Lys)
|
rs773204216
|
0.00001
|
NM_000138.5(FBN1):c.6038-18C>T
|
rs767567399
|
0.00001
|
NM_000138.5(FBN1):c.6099A>G (p.Glu2033=)
|
rs1397665480
|
0.00001
|
NM_000138.5(FBN1):c.6110A>G (p.Lys2037Arg)
|
rs556131403
|
0.00001
|
NM_000138.5(FBN1):c.6147T>C (p.Ser2049=)
|
rs553959381
|
0.00001
|
NM_000138.5(FBN1):c.6163+9C>G
|
rs547396976
|
0.00001
|
NM_000138.5(FBN1):c.6187G>A (p.Ala2063Thr)
|
rs1316593215
|
0.00001
|
NM_000138.5(FBN1):c.6231T>C (p.Asn2077=)
|
rs2043085335
|
0.00001
|
NM_000138.5(FBN1):c.6315G>A (p.Glu2105=)
|
rs1478813051
|
0.00001
|
NM_000138.5(FBN1):c.6336T>C (p.Pro2112=)
|
rs772876451
|
0.00001
|
NM_000138.5(FBN1):c.6379+17G>A
|
rs1432052846
|
0.00001
|
NM_000138.5(FBN1):c.6380-19T>A
|
rs764874493
|
0.00001
|
NM_000138.5(FBN1):c.639C>T (p.Val213=)
|
rs543984363
|
0.00001
|
NM_000138.5(FBN1):c.6402C>T (p.Pro2134=)
|
rs772439885
|
0.00001
|
NM_000138.5(FBN1):c.6417T>C (p.His2139=)
|
rs551162566
|
0.00001
|
NM_000138.5(FBN1):c.6438T>C (p.Asp2146=)
|
rs1398482166
|
0.00001
|
NM_000138.5(FBN1):c.6497-12G>C
|
rs369726558
|
0.00001
|
NM_000138.5(FBN1):c.654C>G (p.Gly218=)
|
rs375181377
|
0.00001
|
NM_000138.5(FBN1):c.6609A>G (p.Thr2203=)
|
rs547573220
|
0.00001
|
NM_000138.5(FBN1):c.6616+8T>A
|
rs371898247
|
0.00001
|
NM_000138.5(FBN1):c.6617-11C>A
|
rs932325724
|
0.00001
|
NM_000138.5(FBN1):c.6675T>C (p.Tyr2225=)
|
rs1260533788
|
0.00001
|
NM_000138.5(FBN1):c.6709G>A (p.Val2237Met)
|
rs764218640
|
0.00001
|
NM_000138.5(FBN1):c.6739+10C>T
|
rs1179540326
|
0.00001
|
NM_000138.5(FBN1):c.6768T>C (p.His2256=)
|
rs1047633779
|
0.00001
|
NM_000138.5(FBN1):c.6783A>C (p.Lys2261Asn)
|
rs771716423
|
0.00001
|
NM_000138.5(FBN1):c.6835G>A (p.Gly2279Arg)
|
rs759674700
|
0.00001
|
NM_000138.5(FBN1):c.6845G>A (p.Arg2282Gln)
|
rs759696323
|
0.00001
|
NM_000138.5(FBN1):c.6859G>C (p.Glu2287Gln)
|
rs551736585
|
0.00001
|
NM_000138.5(FBN1):c.6871+12C>A
|
rs770526904
|
0.00001
|
NM_000138.5(FBN1):c.6891G>A (p.Thr2297=)
|
rs764092264
|
0.00001
|
NM_000138.5(FBN1):c.6969C>T (p.Thr2323=)
|
rs773655866
|
0.00001
|
NM_000138.5(FBN1):c.7071C>T (p.Pro2357=)
|
rs397515843
|
0.00001
|
NM_000138.5(FBN1):c.7083G>A (p.Ser2361=)
|
rs1597517953
|
0.00001
|
NM_000138.5(FBN1):c.7181G>A (p.Arg2394Gln)
|
rs199750146
|
0.00001
|
NM_000138.5(FBN1):c.7189A>G (p.Met2397Val)
|
rs774698871
|
0.00001
|
NM_000138.5(FBN1):c.7196A>G (p.Asn2399Ser)
|
rs1428791574
|
0.00001
|
NM_000138.5(FBN1):c.7204+6T>G
|
rs534417939
|
0.00001
|
NM_000138.5(FBN1):c.7209C>T (p.Ile2403=)
|
rs767903343
|
0.00001
|
NM_000138.5(FBN1):c.7257C>T (p.Val2419=)
|
rs745715311
|
0.00001
|
NM_000138.5(FBN1):c.7272A>G (p.Ser2424=)
|
rs1259699671
|
0.00001
|
NM_000138.5(FBN1):c.7317G>C (p.Gly2439=)
|
rs766871786
|
0.00001
|
NM_000138.5(FBN1):c.7330+10T>G
|
rs375569743
|
0.00001
|
NM_000138.5(FBN1):c.7330+4A>G
|
rs750677373
|
0.00001
|
NM_000138.5(FBN1):c.7330+7G>A
|
rs765544479
|
0.00001
|
NM_000138.5(FBN1):c.7335G>T (p.Leu2445=)
|
rs754460527
|
0.00001
|
NM_000138.5(FBN1):c.736+10G>T
|
rs1183919688
|
0.00001
|
NM_000138.5(FBN1):c.736+8C>T
|
rs753703175
|
0.00001
|
NM_000138.5(FBN1):c.7413G>A (p.Pro2471=)
|
rs769588855
|
0.00001
|
NM_000138.5(FBN1):c.7521C>T (p.Phe2507=)
|
rs111895751
|
0.00001
|
NM_000138.5(FBN1):c.7529A>G (p.Lys2510Arg)
|
rs767602851
|
0.00001
|
NM_000138.5(FBN1):c.7539C>T (p.Pro2513=)
|
rs144713268
|
0.00001
|
NM_000138.5(FBN1):c.756C>T (p.Ala252=)
|
rs1398534692
|
0.00001
|
NM_000138.5(FBN1):c.7570+8G>A
|
rs1215672755
|
0.00001
|
NM_000138.5(FBN1):c.7570+9G>A
|
rs745370940
|
0.00001
|
NM_000138.5(FBN1):c.7571-7C>A
|
rs1229246967
|
0.00001
|
NM_000138.5(FBN1):c.7598A>G (p.Asn2533Ser)
|
rs111231879
|
0.00001
|
NM_000138.5(FBN1):c.759C>T (p.Ile253=)
|
rs1403909880
|
0.00001
|
NM_000138.5(FBN1):c.7602G>A (p.Leu2534=)
|
rs1392530685
|
0.00001
|
NM_000138.5(FBN1):c.7605C>T (p.Cys2535=)
|
rs113544411
|
0.00001
|
NM_000138.5(FBN1):c.7617C>T (p.Gly2539=)
|
rs1388794275
|
0.00001
|
NM_000138.5(FBN1):c.762C>T (p.Pro254=)
|
rs374318726
|
0.00001
|
NM_000138.5(FBN1):c.7632T>C (p.Thr2544=)
|
rs1409771185
|
0.00001
|
NM_000138.5(FBN1):c.7647C>T (p.Thr2549=)
|
rs1184032259
|
0.00001
|
NM_000138.5(FBN1):c.7700-20T>C
|
rs747269059
|
0.00001
|
NM_000138.5(FBN1):c.7707C>T (p.Asp2569=)
|
rs756093148
|
0.00001
|
NM_000138.5(FBN1):c.7773C>T (p.Ser2591=)
|
rs764526450
|
0.00001
|
NM_000138.5(FBN1):c.7819+9C>T
|
rs971180549
|
0.00001
|
NM_000138.5(FBN1):c.7836C>T (p.Leu2612=)
|
rs756689495
|
0.00001
|
NM_000138.5(FBN1):c.7839C>T (p.Ser2613=)
|
rs193922238
|
0.00001
|
NM_000138.5(FBN1):c.7848C>G (p.Ile2616Met)
|
rs138184493
|
0.00001
|
NM_000138.5(FBN1):c.7875C>T (p.Thr2625=)
|
rs1344417150
|
0.00001
|
NM_000138.5(FBN1):c.7929T>C (p.Ser2643=)
|
rs745524158
|
0.00001
|
NM_000138.5(FBN1):c.7968G>A (p.Gln2656=)
|
rs753203216
|
0.00001
|
NM_000138.5(FBN1):c.7971C>A (p.Ala2657=)
|
rs2042897134
|
0.00001
|
NM_000138.5(FBN1):c.7998C>T (p.Thr2666=)
|
rs1374170310
|
0.00001
|
NM_000138.5(FBN1):c.8026C>T (p.Pro2676Ser)
|
rs745650955
|
0.00001
|
NM_000138.5(FBN1):c.8049A>G (p.Gln2683=)
|
rs1208510012
|
0.00001
|
NM_000138.5(FBN1):c.8051+20G>T
|
rs781718760
|
0.00001
|
NM_000138.5(FBN1):c.8051+7A>G
|
rs755589553
|
0.00001
|
NM_000138.5(FBN1):c.8052-20A>G
|
rs939834412
|
0.00001
|
NM_000138.5(FBN1):c.8123A>G (p.Asn2708Ser)
|
rs759494825
|
0.00001
|
NM_000138.5(FBN1):c.8177G>A (p.Arg2726Gln)
|
rs552157433
|
0.00001
|
NM_000138.5(FBN1):c.8189G>A (p.Arg2730Gln)
|
rs200231626
|
0.00001
|
NM_000138.5(FBN1):c.8198C>G (p.Thr2733Arg)
|
rs794728340
|
0.00001
|
NM_000138.5(FBN1):c.8199A>T (p.Thr2733=)
|
rs1372383251
|
0.00001
|
NM_000138.5(FBN1):c.8223C>T (p.Ile2741=)
|
rs150065311
|
0.00001
|
NM_000138.5(FBN1):c.8287A>G (p.Ile2763Val)
|
rs775172479
|
0.00001
|
NM_000138.5(FBN1):c.8295T>A (p.Ala2765=)
|
rs1417594908
|
0.00001
|
NM_000138.5(FBN1):c.8364G>A (p.Thr2788=)
|
rs112945086
|
0.00001
|
NM_000138.5(FBN1):c.8449T>G (p.Phe2817Val)
|
rs148741353
|
0.00001
|
NM_000138.5(FBN1):c.8466A>G (p.Pro2822=)
|
rs147279938
|
0.00001
|
NM_000138.5(FBN1):c.8494A>G (p.Ser2832Gly)
|
rs376933421
|
0.00001
|
NM_000138.5(FBN1):c.8551A>G (p.Lys2851Glu)
|
rs371939796
|
0.00001
|
NM_000138.5(FBN1):c.855A>G (p.Lys285=)
|
rs1272913373
|
0.00001
|
NM_000138.5(FBN1):c.8598C>A (p.Ile2866=)
|
rs1566888537
|
0.00001
|
NM_000138.5(FBN1):c.876C>T (p.Cys292=)
|
rs1286340387
|
0.00001
|
NM_000138.5(FBN1):c.91G>A (p.Ala31Thr)
|
rs371130701
|
0.00001
|
NM_000138.5(FBN1):c.921A>C (p.Thr307=)
|
rs1341105449
|
0.00001
|
NM_000138.5(FBN1):c.963C>T (p.Thr321=)
|
rs767914958
|
0.00001
|
NM_000138.5(FBN1):c.969A>G (p.Pro323=)
|
rs759743242
|
0.00001
|
NM_000138.5(FBN1):c.988+17A>G
|
rs778476790
|
0.00001
|
NM_000138.5(FBN1):c.989-10T>C
|
rs774104217
|
0.00001
|
NM_000138.5(FBN1):c.989-18G>A
|
rs759275834
|
0.00001
|
NM_001032283.3(TMPO):c.183G>A (p.Gly61=)
|
rs780119963
|
0.00001
|
NM_001032283.3(TMPO):c.219C>G (p.Pro73=)
|
rs1464689689
|
0.00001
|
NM_001032283.3(TMPO):c.228C>T (p.Val76=)
|
rs760772599
|
0.00001
|
NM_001032283.3(TMPO):c.238G>A (p.Gly80Arg)
|
rs780142223
|
0.00001
|
NM_001032283.3(TMPO):c.279+11G>C
|
rs772520813
|
0.00001
|
NM_001032283.3(TMPO):c.328C>T (p.Leu110=)
|
rs1302280025
|
0.00001
|
NM_001032283.3(TMPO):c.557A>G (p.Asn186Ser)
|
rs200923649
|
0.00001
|
NM_001032283.3(TMPO):c.565+1103C>T
|
rs188308994
|
0.00001
|
NM_001032283.3(TMPO):c.565+1346T>G
|
rs774747367
|
0.00001
|
NM_001032283.3(TMPO):c.565+1409C>T
|
rs371441559
|
0.00001
|
NM_001032283.3(TMPO):c.565+1468A>G
|
rs202106275
|
0.00001
|
NM_001032283.3(TMPO):c.565+1499A>G
|
rs776923796
|
0.00001
|
NM_001032283.3(TMPO):c.565+1532G>A
|
rs1336852045
|
0.00001
|
NM_001032283.3(TMPO):c.565+1559T>C
|
rs760459470
|
0.00001
|
NM_001032283.3(TMPO):c.565+1907A>G
|
rs372248802
|
0.00001
|
NM_001032283.3(TMPO):c.565+1979T>C
|
rs777452560
|
0.00001
|
NM_001032283.3(TMPO):c.565+1997G>A
|
rs375056835
|
0.00001
|
NM_001032283.3(TMPO):c.565+2081A>G
|
rs760171602
|
0.00001
|
NM_001032283.3(TMPO):c.565+2273G>A
|
rs977042843
|
0.00001
|
NM_001032283.3(TMPO):c.565+2399T>A
|
rs576517565
|
0.00001
|
NM_001032283.3(TMPO):c.565+8T>C
|
rs545742855
|
0.00001
|
NM_001032283.3(TMPO):c.72T>C (p.Asn24=)
|
rs201960762
|
0.00001
|
NM_001032283.3(TMPO):c.84G>A (p.Pro28=)
|
rs199549942
|
0.00001
|
NM_001999.4(FBN2):c.1011C>T (p.Thr337=)
|
rs781086796
|
0.00001
|
NM_001999.4(FBN2):c.1061A>G (p.Asp354Gly)
|
rs761066631
|
0.00001
|
NM_001999.4(FBN2):c.1070G>A (p.Arg357Gln)
|
rs773969876
|
0.00001
|
NM_001999.4(FBN2):c.1079-14T>G
|
rs754310681
|
0.00001
|
NM_001999.4(FBN2):c.1143G>T (p.Gly381=)
|
rs749428195
|
0.00001
|
NM_001999.4(FBN2):c.1151C>T (p.Thr384Met)
|
rs371826887
|
0.00001
|
NM_001999.4(FBN2):c.115C>G (p.Arg39Gly)
|
rs763202121
|
0.00001
|
NM_001999.4(FBN2):c.1260A>C (p.Gly420=)
|
rs766241911
|
0.00001
|
NM_001999.4(FBN2):c.126G>A (p.Pro42=)
|
rs771657289
|
0.00001
|
NM_001999.4(FBN2):c.1338C>G (p.Gly446=)
|
rs1060504933
|
0.00001
|
NM_001999.4(FBN2):c.1391G>A (p.Gly464Asp)
|
rs748584140
|
0.00001
|
NM_001999.4(FBN2):c.1431G>A (p.Gly477=)
|
rs759633050
|
0.00001
|
NM_001999.4(FBN2):c.1603+7T>C
|
rs1477450908
|
0.00001
|
NM_001999.4(FBN2):c.1671T>C (p.Tyr557=)
|
rs1487989552
|
0.00001
|
NM_001999.4(FBN2):c.1716A>G (p.Ala572=)
|
rs771782180
|
0.00001
|
NM_001999.4(FBN2):c.1724-6T>C
|
rs1259657269
|
0.00001
|
NM_001999.4(FBN2):c.1774G>T (p.Val592Leu)
|
rs762427107
|
0.00001
|
NM_001999.4(FBN2):c.1776G>A (p.Val592=)
|
rs775492838
|
0.00001
|
NM_001999.4(FBN2):c.1842C>T (p.Asn614=)
|
rs968593645
|
0.00001
|
NM_001999.4(FBN2):c.1866A>G (p.Thr622=)
|
rs1060504934
|
0.00001
|
NM_001999.4(FBN2):c.1884G>A (p.Leu628=)
|
rs1237327921
|
0.00001
|
NM_001999.4(FBN2):c.1902T>C (p.Asn634=)
|
rs553052214
|
0.00001
|
NM_001999.4(FBN2):c.2013G>A (p.Gly671=)
|
rs778762668
|
0.00001
|
NM_001999.4(FBN2):c.2041C>T (p.Arg681Cys)
|
rs750406193
|
0.00001
|
NM_001999.4(FBN2):c.2043C>T (p.Arg681=)
|
rs1476851135
|
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.2283T>C (p.Gly761=)
|
rs1235214641
|
0.00001
|
NM_001999.4(FBN2):c.2428+9T>C
|
rs368374358
|
0.00001
|
NM_001999.4(FBN2):c.2487G>T (p.Thr829=)
|
rs779455710
|
0.00001
|
NM_001999.4(FBN2):c.2511C>T (p.Cys837=)
|
rs756813212
|
0.00001
|
NM_001999.4(FBN2):c.2554+18C>T
|
rs778973357
|
0.00001
|
NM_001999.4(FBN2):c.2554+19G>A
|
rs199897237
|
0.00001
|
NM_001999.4(FBN2):c.258C>T (p.Pro86=)
|
rs780509984
|
0.00001
|
NM_001999.4(FBN2):c.2661A>G (p.Gly887=)
|
rs774598529
|
0.00001
|
NM_001999.4(FBN2):c.2675-8C>G
|
rs1451128883
|
0.00001
|
NM_001999.4(FBN2):c.2715C>T (p.Ser905=)
|
rs998086640
|
0.00001
|
NM_001999.4(FBN2):c.2740G>A (p.Ala914Thr)
|
rs370312107
|
0.00001
|
NM_001999.4(FBN2):c.2777C>A (p.Ala926Asp)
|
rs138429045
|
0.00001
|
NM_001999.4(FBN2):c.2813-12T>C
|
rs1395669341
|
0.00001
|
NM_001999.4(FBN2):c.2864-12A>G
|
rs1234935460
|
0.00001
|
NM_001999.4(FBN2):c.2874G>A (p.Glu958=)
|
rs765859878
|
0.00001
|
NM_001999.4(FBN2):c.294C>T (p.Cys98=)
|
rs765214316
|
0.00001
|
NM_001999.4(FBN2):c.2989+18A>T
|
rs769856454
|
0.00001
|
NM_001999.4(FBN2):c.2990-13G>A
|
rs375326505
|
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.3253A>C (p.Thr1085Pro)
|
rs863223562
|
0.00001
|
NM_001999.4(FBN2):c.3277A>G (p.Ile1093Val)
|
rs747248488
|
0.00001
|
NM_001999.4(FBN2):c.3280G>A (p.Gly1094Arg)
|
rs758659538
|
0.00001
|
NM_001999.4(FBN2):c.3290A>C (p.Lys1097Thr)
|
rs765437414
|
0.00001
|
NM_001999.4(FBN2):c.3304A>G (p.Ser1102Gly)
|
rs761012607
|
0.00001
|
NM_001999.4(FBN2):c.3420C>T (p.Cys1140=)
|
rs756541654
|
0.00001
|
NM_001999.4(FBN2):c.3534G>C (p.Glu1178Asp)
|
rs771385579
|
0.00001
|
NM_001999.4(FBN2):c.3567C>T (p.His1189=)
|
rs945523399
|
0.00001
|
NM_001999.4(FBN2):c.3609A>G (p.Glu1203=)
|
rs941219425
|
0.00001
|
NM_001999.4(FBN2):c.3614C>T (p.Ser1205Phe)
|
rs1389689622
|
0.00001
|
NM_001999.4(FBN2):c.3630C>G (p.Leu1210=)
|
rs764902856
|
0.00001
|
NM_001999.4(FBN2):c.3675C>T (p.Cys1225=)
|
rs141485941
|
0.00001
|
NM_001999.4(FBN2):c.3750C>T (p.Asn1250=)
|
rs750559514
|
0.00001
|
NM_001999.4(FBN2):c.3877A>T (p.Ile1293Phe)
|
rs1263059454
|
0.00001
|
NM_001999.4(FBN2):c.3889G>A (p.Gly1297Ser)
|
rs755489065
|
0.00001
|
NM_001999.4(FBN2):c.3919C>T (p.Arg1307Cys)
|
rs922751471
|
0.00001
|
NM_001999.4(FBN2):c.3984A>G (p.Glu1328=)
|
rs1394998823
|
0.00001
|
NM_001999.4(FBN2):c.4052A>G (p.His1351Arg)
|
rs1039821634
|
0.00001
|
NM_001999.4(FBN2):c.4134C>T (p.Cys1378=)
|
rs775405425
|
0.00001
|
NM_001999.4(FBN2):c.413C>T (p.Ser138Leu)
|
rs149305476
|
0.00001
|
NM_001999.4(FBN2):c.4208G>A (p.Gly1403Asp)
|
rs750327890
|
0.00001
|
NM_001999.4(FBN2):c.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.4406C>T (p.Pro1469Leu)
|
rs770606176
|
0.00001
|
NM_001999.4(FBN2):c.4419C>T (p.Arg1473=)
|
rs1750619535
|
0.00001
|
NM_001999.4(FBN2):c.4515A>G (p.Thr1505=)
|
rs751938197
|
0.00001
|
NM_001999.4(FBN2):c.4595-19T>C
|
rs201459526
|
0.00001
|
NM_001999.4(FBN2):c.4608T>C (p.Cys1536=)
|
rs1176811808
|
0.00001
|
NM_001999.4(FBN2):c.4690T>C (p.Leu1564=)
|
rs886038504
|
0.00001
|
NM_001999.4(FBN2):c.4867C>G (p.Pro1623Ala)
|
rs139830237
|
0.00001
|
NM_001999.4(FBN2):c.4879+7A>G
|
rs555328744
|
0.00001
|
NM_001999.4(FBN2):c.488A>G (p.His163Arg)
|
rs1029299660
|
0.00001
|
NM_001999.4(FBN2):c.4890C>T (p.Tyr1630=)
|
rs1488160637
|
0.00001
|
NM_001999.4(FBN2):c.4949-5T>C
|
rs1264068007
|
0.00001
|
NM_001999.4(FBN2):c.5074+7T>C
|
rs201951284
|
0.00001
|
NM_001999.4(FBN2):c.5075-4C>G
|
rs779999668
|
0.00001
|
NM_001999.4(FBN2):c.522T>C (p.Tyr174=)
|
rs573915338
|
0.00001
|
NM_001999.4(FBN2):c.5267A>G (p.Asn1756Ser)
|
rs760065931
|
0.00001
|
NM_001999.4(FBN2):c.5295A>C (p.Thr1765=)
|
rs941916367
|
0.00001
|
NM_001999.4(FBN2):c.5303T>C (p.Val1768Ala)
|
rs779202876
|
0.00001
|
NM_001999.4(FBN2):c.533-4G>T
|
rs372596001
|
0.00001
|
NM_001999.4(FBN2):c.5353+20A>G
|
rs759401474
|
0.00001
|
NM_001999.4(FBN2):c.5354-14T>C
|
rs756825167
|
0.00001
|
NM_001999.4(FBN2):c.5427T>C (p.Ile1809=)
|
rs756365546
|
0.00001
|
NM_001999.4(FBN2):c.5539G>C (p.Val1847Leu)
|
rs863223610
|
0.00001
|
NM_001999.4(FBN2):c.5549-8T>A
|
rs1339062362
|
0.00001
|
NM_001999.4(FBN2):c.5587C>T (p.Arg1863Trp)
|
rs1192632165
|
0.00001
|
NM_001999.4(FBN2):c.559G>A (p.Gly187Ser)
|
rs773732645
|
0.00001
|
NM_001999.4(FBN2):c.5639C>T (p.Ala1880Val)
|
rs779567163
|
0.00001
|
NM_001999.4(FBN2):c.5660A>G (p.Asn1887Ser)
|
rs745759959
|
0.00001
|
NM_001999.4(FBN2):c.5682T>C (p.Asn1894=)
|
rs991908659
|
0.00001
|
NM_001999.4(FBN2):c.5731C>T (p.Leu1911=)
|
rs768733086
|
0.00001
|
NM_001999.4(FBN2):c.573C>T (p.Ile191=)
|
rs370698125
|
0.00001
|
NM_001999.4(FBN2):c.5800+10G>A
|
rs546373462
|
0.00001
|
NM_001999.4(FBN2):c.5899C>T (p.His1967Tyr)
|
rs369652475
|
0.00001
|
NM_001999.4(FBN2):c.5918-4A>G
|
rs1382347293
|
0.00001
|
NM_001999.4(FBN2):c.5918-7C>G
|
rs750463932
|
0.00001
|
NM_001999.4(FBN2):c.5965C>T (p.Arg1989Cys)
|
rs758369648
|
0.00001
|
NM_001999.4(FBN2):c.6027A>G (p.Pro2009=)
|
rs147474868
|
0.00001
|
NM_001999.4(FBN2):c.6033C>G (p.Gly2011=)
|
rs749647897
|
0.00001
|
NM_001999.4(FBN2):c.6093C>G (p.Thr2031=)
|
rs1131691293
|
0.00001
|
NM_001999.4(FBN2):c.6205T>C (p.Phe2069Leu)
|
rs1295335940
|
0.00001
|
NM_001999.4(FBN2):c.6292+7T>C
|
rs775471488
|
0.00001
|
NM_001999.4(FBN2):c.6306C>T (p.Ser2102=)
|
rs374717631
|
0.00001
|
NM_001999.4(FBN2):c.6438C>T (p.Asp2146=)
|
rs772832233
|
0.00001
|
NM_001999.4(FBN2):c.6445+10A>G
|
rs774706397
|
0.00001
|
NM_001999.4(FBN2):c.6445+11T>C
|
rs766726816
|
0.00001
|
NM_001999.4(FBN2):c.6450A>T (p.Ala2150=)
|
rs1199375914
|
0.00001
|
NM_001999.4(FBN2):c.6477T>C (p.His2159=)
|
rs768972914
|
0.00001
|
NM_001999.4(FBN2):c.6511+7T>C
|
rs1201683263
|
0.00001
|
NM_001999.4(FBN2):c.6512-14G>A
|
rs765303543
|
0.00001
|
NM_001999.4(FBN2):c.6518A>G (p.Asn2173Ser)
|
rs143054385
|
0.00001
|
NM_001999.4(FBN2):c.6584G>A (p.Arg2195His)
|
rs144887443
|
0.00001
|
NM_001999.4(FBN2):c.6610C>G (p.Leu2204Val)
|
rs201541140
|
0.00001
|
NM_001999.4(FBN2):c.6611T>C (p.Leu2204Pro)
|
rs772480416
|
0.00001
|
NM_001999.4(FBN2):c.6629G>A (p.Arg2210His)
|
rs745396297
|
0.00001
|
NM_001999.4(FBN2):c.6637+18A>G
|
rs777841785
|
0.00001
|
NM_001999.4(FBN2):c.6658G>A (p.Gly2220Ser)
|
rs863223582
|
0.00001
|
NM_001999.4(FBN2):c.6665C>T (p.Pro2222Leu)
|
rs747908706
|
0.00001
|
NM_001999.4(FBN2):c.6669T>C (p.Cys2223=)
|
rs754724355
|
0.00001
|
NM_001999.4(FBN2):c.6758-14A>G
|
rs757283004
|
0.00001
|
NM_001999.4(FBN2):c.6795T>C (p.Ala2265=)
|
rs753071532
|
0.00001
|
NM_001999.4(FBN2):c.680G>A (p.Gly227Glu)
|
rs760247833
|
0.00001
|
NM_001999.4(FBN2):c.6834G>A (p.Thr2278=)
|
rs374853253
|
0.00001
|
NM_001999.4(FBN2):c.6881-8T>G
|
rs1355994517
|
0.00001
|
NM_001999.4(FBN2):c.6896C>T (p.Ala2299Val)
|
rs756798856
|
0.00001
|
NM_001999.4(FBN2):c.6960G>A (p.Met2320Ile)
|
rs780214155
|
0.00001
|
NM_001999.4(FBN2):c.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.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.7405A>G (p.Met2469Val)
|
rs863223546
|
0.00001
|
NM_001999.4(FBN2):c.7472-14T>A
|
rs772646837
|
0.00001
|
NM_001999.4(FBN2):c.7472-17A>G
|
rs773888786
|
0.00001
|
NM_001999.4(FBN2):c.7524C>T (p.Asn2508=)
|
rs1765389228
|
0.00001
|
NM_001999.4(FBN2):c.7595-8A>G
|
rs878854479
|
0.00001
|
NM_001999.4(FBN2):c.7655G>A (p.Gly2552Glu)
|
rs1473525001
|
0.00001
|
NM_001999.4(FBN2):c.7659G>A (p.Gly2553=)
|
rs763586091
|
0.00001
|
NM_001999.4(FBN2):c.7676C>T (p.Pro2559Leu)
|
rs770193908
|
0.00001
|
NM_001999.4(FBN2):c.767C>T (p.Ala256Val)
|
rs1345155944
|
0.00001
|
NM_001999.4(FBN2):c.7720G>A (p.Glu2574Lys)
|
rs377689621
|
0.00001
|
NM_001999.4(FBN2):c.7740G>A (p.Ser2580=)
|
rs942206547
|
0.00001
|
NM_001999.4(FBN2):c.7741C>T (p.Leu2581Phe)
|
rs146316163
|
0.00001
|
NM_001999.4(FBN2):c.7767A>G (p.Gln2589=)
|
rs777828326
|
0.00001
|
NM_001999.4(FBN2):c.778C>G (p.Pro260Ala)
|
rs774323549
|
0.00001
|
NM_001999.4(FBN2):c.787C>T (p.Arg263Trp)
|
rs151329128
|
0.00001
|
NM_001999.4(FBN2):c.7886A>G (p.Gln2629Arg)
|
rs768750542
|
0.00001
|
NM_001999.4(FBN2):c.7960+20A>G
|
rs761551216
|
0.00001
|
NM_001999.4(FBN2):c.7961-11C>T
|
rs751924753
|
0.00001
|
NM_001999.4(FBN2):c.8045C>T (p.Ser2682Leu)
|
rs370250073
|
0.00001
|
NM_001999.4(FBN2):c.8125G>A (p.Gly2709Ser)
|
rs145809527
|
0.00001
|
NM_001999.4(FBN2):c.8193-7C>G
|
rs754837805
|
0.00001
|
NM_001999.4(FBN2):c.8196C>T (p.His2732=)
|
rs780426123
|
0.00001
|
NM_001999.4(FBN2):c.827-19A>G
|
rs199559284
|
0.00001
|
NM_001999.4(FBN2):c.8302A>C (p.Asn2768His)
|
rs1262933234
|
0.00001
|
NM_001999.4(FBN2):c.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.8513A>G (p.Gln2838Arg)
|
rs772928933
|
0.00001
|
NM_001999.4(FBN2):c.8574G>A (p.Thr2858=)
|
rs573245869
|
0.00001
|
NM_001999.4(FBN2):c.8705C>A (p.Ala2902Asp)
|
rs757052151
|
0.00001
|
NM_001999.4(FBN2):c.885A>G (p.Thr295=)
|
rs989219711
|
0.00001
|
NM_001999.4(FBN2):c.951A>G (p.Glu317=)
|
rs1326391832
|
0.00001
|
NM_001999.4(FBN2):c.953-9C>T
|
rs1181205032
|
0.00001
|
NM_003036.4(SKI):c.1005A>G (p.Lys335=)
|
rs1057524639
|
0.00001
|
NM_003036.4(SKI):c.1070G>A (p.Arg357Gln)
|
rs200874294
|
0.00001
|
NM_003036.4(SKI):c.1152C>T (p.Pro384=)
|
rs200160702
|
0.00001
|
NM_003036.4(SKI):c.1188C>T (p.His396=)
|
rs998931386
|
0.00001
|
NM_003036.4(SKI):c.1212-13C>G
|
rs754988590
|
0.00001
|
NM_003036.4(SKI):c.129G>A (p.Ala43=)
|
rs1313492083
|
0.00001
|
NM_003036.4(SKI):c.1314C>T (p.Ala438=)
|
rs554715623
|
0.00001
|
NM_003036.4(SKI):c.1317C>T (p.Val439=)
|
rs1446526482
|
0.00001
|
NM_003036.4(SKI):c.1339G>A (p.Ala447Thr)
|
rs1325458157
|
0.00001
|
NM_003036.4(SKI):c.1411G>T (p.Val471Leu)
|
rs745717087
|
0.00001
|
NM_003036.4(SKI):c.1422A>T (p.Pro474=)
|
rs772286488
|
0.00001
|
NM_003036.4(SKI):c.1428G>C (p.Glu476Asp)
|
rs776816870
|
0.00001
|
NM_003036.4(SKI):c.1474+8T>A
|
rs1249714928
|
0.00001
|
NM_003036.4(SKI):c.1475-5C>T
|
rs1640509294
|
0.00001
|
NM_003036.4(SKI):c.1476C>T (p.Phe492=)
|
rs1006090345
|
0.00001
|
NM_003036.4(SKI):c.1485C>T (p.Ser495=)
|
rs964817956
|
0.00001
|
NM_003036.4(SKI):c.1506G>A (p.Pro502=)
|
rs975738197
|
0.00001
|
NM_003036.4(SKI):c.1521C>T (p.Ser507=)
|
rs1430227962
|
0.00001
|
NM_003036.4(SKI):c.1530C>T (p.Ala510=)
|
rs1216089588
|
0.00001
|
NM_003036.4(SKI):c.1554G>A (p.Ala518=)
|
rs770050757
|
0.00001
|
NM_003036.4(SKI):c.1572C>T (p.Ala524=)
|
rs1285131836
|
0.00001
|
NM_003036.4(SKI):c.1620G>A (p.Ala540=)
|
rs529842293
|
0.00001
|
NM_003036.4(SKI):c.163G>C (p.Ala55Pro)
|
rs769506718
|
0.00001
|
NM_003036.4(SKI):c.1735G>A (p.Ala579Thr)
|
rs370558210
|
0.00001
|
NM_003036.4(SKI):c.1739C>T (p.Ala580Val)
|
rs1397350089
|
0.00001
|
NM_003036.4(SKI):c.1767+7G>A
|
rs199962561
|
0.00001
|
NM_003036.4(SKI):c.1768-4C>T
|
rs200246585
|
0.00001
|
NM_003036.4(SKI):c.1797G>A (p.Lys599=)
|
rs767488534
|
0.00001
|
NM_003036.4(SKI):c.1833C>T (p.Asn611=)
|
rs1557853907
|
0.00001
|
NM_003036.4(SKI):c.1860C>T (p.Arg620=)
|
rs1002513362
|
0.00001
|
NM_003036.4(SKI):c.1878G>A (p.Lys626=)
|
rs761614569
|
0.00001
|
NM_003036.4(SKI):c.1914G>A (p.Lys638=)
|
rs752864137
|
0.00001
|
NM_003036.4(SKI):c.1998+9G>A
|
rs533071160
|
0.00001
|
NM_003036.4(SKI):c.1999-11C>T
|
rs1022360604
|
0.00001
|
NM_003036.4(SKI):c.1999-18C>T
|
rs762184119
|
0.00001
|
NM_003036.4(SKI):c.1999-9C>T
|
rs369496789
|
0.00001
|
NM_003036.4(SKI):c.2052G>T (p.Leu684=)
|
rs1271020892
|
0.00001
|
NM_003036.4(SKI):c.2058C>T (p.Ala686=)
|
rs1171554207
|
0.00001
|
NM_003036.4(SKI):c.2092C>T (p.Leu698=)
|
rs766929334
|
0.00001
|
NM_003036.4(SKI):c.2133G>A (p.Pro711=)
|
rs1640594973
|
0.00001
|
NM_003036.4(SKI):c.2138C>T (p.Ala713Val)
|
rs1160688025
|
0.00001
|
NM_003036.4(SKI):c.2154G>A (p.Ala718=)
|
rs778456446
|
0.00001
|
NM_003036.4(SKI):c.2172G>A (p.Ala724=)
|
rs879070309
|
0.00001
|
NM_003036.4(SKI):c.258G>C (p.Leu86=)
|
rs780679449
|
0.00001
|
NM_003036.4(SKI):c.300C>T (p.Arg100=)
|
rs1286311989
|
0.00001
|
NM_003036.4(SKI):c.324G>A (p.Glu108=)
|
rs201144990
|
0.00001
|
NM_003036.4(SKI):c.330C>T (p.Ile110=)
|
rs764373577
|
0.00001
|
NM_003036.4(SKI):c.405G>T (p.Ser135=)
|
rs769774481
|
0.00001
|
NM_003036.4(SKI):c.438C>T (p.Leu146=)
|
rs371061756
|
0.00001
|
NM_003036.4(SKI):c.480C>T (p.Ile160=)
|
rs952491836
|
0.00001
|
NM_003036.4(SKI):c.498C>T (p.Ile166=)
|
rs768733290
|
0.00001
|
NM_003036.4(SKI):c.553C>T (p.Leu185=)
|
rs753251990
|
0.00001
|
NM_003036.4(SKI):c.611C>T (p.Ala204Val)
|
rs772336192
|
0.00001
|
NM_003036.4(SKI):c.648C>G (p.Arg216=)
|
rs1398417113
|
0.00001
|
NM_003036.4(SKI):c.663C>T (p.Tyr221=)
|
rs762684190
|
0.00001
|
NM_003036.4(SKI):c.691C>T (p.Leu231=)
|
rs1191109372
|
0.00001
|
NM_003036.4(SKI):c.699G>T (p.Val233=)
|
rs1174147537
|
0.00001
|
NM_003036.4(SKI):c.702C>G (p.Pro234=)
|
rs1057523205
|
0.00001
|
NM_003036.4(SKI):c.72C>T (p.Phe24=)
|
rs953342598
|
0.00001
|
NM_003036.4(SKI):c.75C>T (p.His25=)
|
rs1486448334
|
0.00001
|
NM_003036.4(SKI):c.81C>T (p.Ser27=)
|
rs755325222
|
0.00001
|
NM_003036.4(SKI):c.900C>A (p.Leu300=)
|
rs747649658
|
0.00001
|
NM_003036.4(SKI):c.906C>T (p.Arg302=)
|
rs772758586
|
0.00001
|
NM_003036.4(SKI):c.918C>T (p.Asp306=)
|
rs776475482
|
0.00001
|
NM_003036.4(SKI):c.970-10T>C
|
rs750601690
|
0.00001
|
NM_003036.4(SKI):c.970-11A>G
|
rs1640462475
|
0.00001
|
NM_003238.6(TGFB2):c.1057T>G (p.Leu353Val)
|
rs777045186
|
0.00001
|
NM_003238.6(TGFB2):c.1086+20G>C
|
rs201814950
|
0.00001
|
NM_003238.6(TGFB2):c.1095C>T (p.Ser365=)
|
rs748818194
|
0.00001
|
NM_003238.6(TGFB2):c.1098A>G (p.Leu366=)
|
rs931960431
|
0.00001
|
NM_003238.6(TGFB2):c.1122A>T (p.Ala374=)
|
rs1316829320
|
0.00001
|
NM_003238.6(TGFB2):c.126G>A (p.Gly42=)
|
rs1199107727
|
0.00001
|
NM_003238.6(TGFB2):c.261C>T (p.Ala87=)
|
rs746416777
|
0.00001
|
NM_003238.6(TGFB2):c.306G>A (p.Glu102=)
|
rs754502128
|
0.00001
|
NM_003238.6(TGFB2):c.346+20T>A
|
rs1226959859
|
0.00001
|
NM_003238.6(TGFB2):c.369C>T (p.Tyr123=)
|
rs368157039
|
0.00001
|
NM_003238.6(TGFB2):c.40C>T (p.Leu14=)
|
rs1407180803
|
0.00001
|
NM_003238.6(TGFB2):c.609A>G (p.Val203=)
|
rs142588546
|
0.00001
|
NM_003238.6(TGFB2):c.612T>C (p.Thr204=)
|
rs960874816
|
0.00001
|
NM_003238.6(TGFB2):c.918G>A (p.Ala306=)
|
rs767936611
|
0.00001
|
NM_003238.6(TGFB2):c.942G>A (p.Gln314=)
|
rs188801474
|
0.00001
|
NM_003238.6(TGFB2):c.957A>C (p.Leu319=)
|
rs755474865
|
0.00001
|
NM_003239.5(TGFB3):c.1050C>T (p.Tyr350=)
|
rs1386754558
|
0.00001
|
NM_003239.5(TGFB3):c.1137G>A (p.Val379=)
|
rs751480221
|
0.00001
|
NM_003239.5(TGFB3):c.1230A>G (p.Lys410=)
|
rs373100223
|
0.00001
|
NM_003239.5(TGFB3):c.294G>A (p.Ser98=)
|
rs778214495
|
0.00001
|
NM_003239.5(TGFB3):c.339G>A (p.Gly113=)
|
rs886050798
|
0.00001
|
NM_003239.5(TGFB3):c.369C>T (p.Cys123=)
|
rs1457776871
|
0.00001
|
NM_003239.5(TGFB3):c.393T>C (p.Val131=)
|
rs1302391555
|
0.00001
|
NM_003239.5(TGFB3):c.405T>C (p.Asn135=)
|
rs756208950
|
0.00001
|
NM_003239.5(TGFB3):c.420G>A (p.Glu140=)
|
rs878854609
|
0.00001
|
NM_003239.5(TGFB3):c.435C>T (p.Asn145=)
|
rs2035294472
|
0.00001
|
NM_003239.5(TGFB3):c.471C>G (p.Pro157=)
|
rs768917005
|
0.00001
|
NM_003239.5(TGFB3):c.480C>T (p.Ser160=)
|
rs1555360832
|
0.00001
|
NM_003239.5(TGFB3):c.516+14C>T
|
rs757567007
|
0.00001
|
NM_003239.5(TGFB3):c.516+15A>G
|
rs199930875
|
0.00001
|
NM_003239.5(TGFB3):c.534G>A (p.Glu178=)
|
rs148895204
|
0.00001
|
NM_003239.5(TGFB3):c.612C>T (p.Val204=)
|
rs1000679465
|
0.00001
|
NM_003239.5(TGFB3):c.729C>T (p.His243=)
|
rs746620931
|
0.00001
|
NM_003239.5(TGFB3):c.755-20A>C
|
rs747852718
|
0.00001
|
NM_003239.5(TGFB3):c.755-5T>C
|
rs768188445
|
0.00001
|
NM_003239.5(TGFB3):c.75C>T (p.Ser25=)
|
rs773168115
|
0.00001
|
NM_003239.5(TGFB3):c.840C>T (p.Leu280=)
|
rs746293134
|
0.00001
|
NM_003239.5(TGFB3):c.897G>A (p.Lys299=)
|
rs771455698
|
0.00001
|
NM_003239.5(TGFB3):c.900G>C (p.Arg300=)
|
rs761439201
|
0.00001
|
NM_003239.5(TGFB3):c.926+8_926+9del
|
rs1491398509
|
0.00001
|
NM_003239.5(TGFB3):c.927-19T>C
|
rs199714510
|
0.00001
|
NM_003239.5(TGFB3):c.927-4G>A
|
rs201637508
|
0.00001
|
NM_003239.5(TGFB3):c.957C>T (p.Pro319=)
|
rs977821614
|
0.00001
|
NM_003239.5(TGFB3):c.99C>T (p.Gly33=)
|
rs757663439
|
0.00001
|
NM_000138.5(FBN1):c.102G>C (p.Val34=)
|
|
|
NM_000138.5(FBN1):c.1032C>T (p.Arg344=)
|
rs2141336180
|
|
NM_000138.5(FBN1):c.1038T>A (p.Ser346=)
|
rs2141336171
|
|
NM_000138.5(FBN1):c.1113T>C (p.Thr371=)
|
|
|
NM_000138.5(FBN1):c.1147+19A>G
|
rs369942195
|
|
NM_000138.5(FBN1):c.1148-16T>C
|
|
|
NM_000138.5(FBN1):c.1148-6T>C
|
|
|
NM_000138.5(FBN1):c.1164G>T (p.Leu388=)
|
|
|
NM_000138.5(FBN1):c.1175C>G (p.Pro392Arg)
|
rs534127494
|
|
NM_000138.5(FBN1):c.1200A>G (p.Glu400=)
|
|
|
NM_000138.5(FBN1):c.1211C>A (p.Pro404Gln)
|
rs779930519
|
|
NM_000138.5(FBN1):c.1211C>G (p.Pro404Arg)
|
rs779930519
|
|
NM_000138.5(FBN1):c.1211C>T (p.Pro404Leu)
|
rs779930519
|
|
NM_000138.5(FBN1):c.1239C>T (p.Leu413=)
|
rs1308682011
|
|
NM_000138.5(FBN1):c.1266A>T (p.Gly422=)
|
rs2141330973
|
|
NM_000138.5(FBN1):c.126C>G (p.Ala42=)
|
|
|
NM_000138.5(FBN1):c.1278G>A (p.Pro426=)
|
rs113245313
|
|
NM_000138.5(FBN1):c.1278G>T (p.Pro426=)
|
rs113245313
|
|
NM_000138.5(FBN1):c.1281C>A (p.Val427=)
|
rs759949880
|
|
NM_000138.5(FBN1):c.1281C>G (p.Val427=)
|
rs759949880
|
|
NM_000138.5(FBN1):c.1286G>A (p.Arg429Gln)
|
rs368089138
|
|
NM_000138.5(FBN1):c.1286G>T (p.Arg429Leu)
|
rs368089138
|
|
NM_000138.5(FBN1):c.1305G>A (p.Leu435=)
|
rs769895864
|
|
NM_000138.5(FBN1):c.1311A>G (p.Pro437=)
|
rs1253494702
|
|
NM_000138.5(FBN1):c.1327+7A>G
|
rs529150174
|
|
NM_000138.5(FBN1):c.1328-15T>G
|
rs2043793958
|
|
NM_000138.5(FBN1):c.1335G>T (p.Leu445=)
|
|
|
NM_000138.5(FBN1):c.135A>G (p.Arg45=)
|
rs2140787554
|
|
NM_000138.5(FBN1):c.1461G>A (p.Glu487=)
|
|
|
NM_000138.5(FBN1):c.1468+12A>G
|
|
|
NM_000138.5(FBN1):c.1468+12A>T
|
|
|
NM_000138.5(FBN1):c.1468+15C>T
|
rs762023380
|
|
NM_000138.5(FBN1):c.1468+19G>A
|
|
|
NM_000138.5(FBN1):c.1469-10T>C
|
|
|
NM_000138.5(FBN1):c.1469-14A>T
|
rs2043779369
|
|
NM_000138.5(FBN1):c.1469-5T>G
|
rs1060504144
|
|
NM_000138.5(FBN1):c.1469-6T>G
|
|
|
NM_000138.5(FBN1):c.1476T>C (p.Asp492=)
|
rs758967612
|
|
NM_000138.5(FBN1):c.1506T>C (p.Gly502=)
|
rs770426679
|
|
NM_000138.5(FBN1):c.150C>T (p.His50=)
|
rs1597652302
|
|
NM_000138.5(FBN1):c.1524G>A (p.Gln508=)
|
|
|
NM_000138.5(FBN1):c.1530G>A (p.Ser510=)
|
rs147511977
|
|
NM_000138.5(FBN1):c.1530G>T (p.Ser510=)
|
rs147511977
|
|
NM_000138.5(FBN1):c.1536C>T (p.Thr512=)
|
rs1178360874
|
|
NM_000138.5(FBN1):c.1542G>A (p.Gln514=)
|
|
|
NM_000138.5(FBN1):c.1560G>A (p.Gln520=)
|
|
|
NM_000138.5(FBN1):c.1566A>T (p.Thr522=)
|
rs531264662
|
|
NM_000138.5(FBN1):c.1588+10T>G
|
rs761924614
|
|
NM_000138.5(FBN1):c.1588+16C>T
|
|
|
NM_000138.5(FBN1):c.1588+20C>A
|
|
|
NM_000138.5(FBN1):c.1588+20C>G
|
|
|
NM_000138.5(FBN1):c.1588+9C>G
|
rs757843637
|
|
NM_000138.5(FBN1):c.1589-20T>G
|
|
|
NM_000138.5(FBN1):c.1589-5T>C
|
rs1371798538
|
|
NM_000138.5(FBN1):c.1589-7A>T
|
rs1467162544
|
|
NM_000138.5(FBN1):c.1589-8G>T
|
rs779629563
|
|
NM_000138.5(FBN1):c.1599G>A (p.Glu533=)
|
|
|
NM_000138.5(FBN1):c.1614C>T (p.Gly538=)
|
rs2141323481
|
|
NM_000138.5(FBN1):c.1616G>A (p.Arg539Gln)
|
|
|
NM_000138.5(FBN1):c.1625A>G (p.Asn542Ser)
|
rs963564435
|
|
NM_000138.5(FBN1):c.164+13G>T
|
|
|
NM_000138.5(FBN1):c.164+16C>T
|
|
|
NM_000138.5(FBN1):c.1641C>A (p.Ile547=)
|
rs2141323402
|
|
NM_000138.5(FBN1):c.165-8T>G
|
rs750029122
|
|
NM_000138.5(FBN1):c.1662T>C (p.His554=)
|
|
|
NM_000138.5(FBN1):c.1674T>C (p.Asn558=)
|
rs2141323328
|
|
NM_000138.5(FBN1):c.1714+11T>C
|
|
|
NM_000138.5(FBN1):c.1714+13T>A
|
|
|
NM_000138.5(FBN1):c.1714+14A>G
|
|
|
NM_000138.5(FBN1):c.1714+7A>G
|
|
|
NM_000138.5(FBN1):c.1715-10G>A
|
rs764128146
|
|
NM_000138.5(FBN1):c.1715-15G>A
|
|
|
NM_000138.5(FBN1):c.1715-17A>G
|
|
|
NM_000138.5(FBN1):c.1715-8A>G
|
rs1555399978
|
|
NM_000138.5(FBN1):c.1715-9T>A
|
rs1057520813
|
|
NM_000138.5(FBN1):c.1715-9T>C
|
|
|
NM_000138.5(FBN1):c.1732A>G (p.Ile578Val)
|
|
|
NM_000138.5(FBN1):c.1761T>C (p.Cys587=)
|
rs1060504143
|
|
NM_000138.5(FBN1):c.1791T>C (p.Ile597=)
|
|
|
NM_000138.5(FBN1):c.1815A>G (p.Ala605=)
|
rs2141321499
|
|
NM_000138.5(FBN1):c.1830T>C (p.Tyr610=)
|
rs1247219658
|
|
NM_000138.5(FBN1):c.1837+12A>G
|
|
|
NM_000138.5(FBN1):c.1838-17G>A
|
|
|
NM_000138.5(FBN1):c.1838-17G>T
|
|
|
NM_000138.5(FBN1):c.192T>C (p.Asn64=)
|
|
|
NM_000138.5(FBN1):c.1940T>C (p.Leu647Pro)
|
rs1566913983
|
|
NM_000138.5(FBN1):c.1947C>T (p.Gly649=)
|
rs2141317155
|
|
NM_000138.5(FBN1):c.195T>C (p.Ala65=)
|
rs759873157
|
|
NM_000138.5(FBN1):c.1960+14A>G
|
|
|
NM_000138.5(FBN1):c.1960+15T>C
|
|
|
NM_000138.5(FBN1):c.1960+9A>G
|
|
|
NM_000138.5(FBN1):c.1961-18A>G
|
|
|
NM_000138.5(FBN1):c.1961-5T>C
|
rs919746497
|
|
NM_000138.5(FBN1):c.1962C>T (p.Asp654=)
|
|
|
NM_000138.5(FBN1):c.1980A>G (p.Thr660=)
|
rs531454879
|
|
NM_000138.5(FBN1):c.198C>T (p.Tyr66=)
|
rs2044669179
|
|
NM_000138.5(FBN1):c.1992A>C (p.Gly664=)
|
|
|
NM_000138.5(FBN1):c.1998G>A (p.Lys666=)
|
|
|
NM_000138.5(FBN1):c.2004C>T (p.Gly668=)
|
|
|
NM_000138.5(FBN1):c.2007G>A (p.Gln669=)
|
|
|
NM_000138.5(FBN1):c.2022G>A (p.Leu674=)
|
|
|
NM_000138.5(FBN1):c.2031T>C (p.Ala677=)
|
|
|
NM_000138.5(FBN1):c.2067G>A (p.Glu689=)
|
|
|
NM_000138.5(FBN1):c.2085T>C (p.Pro695=)
|
rs2141315721
|
|
NM_000138.5(FBN1):c.2094G>A (p.Pro698=)
|
rs144775475
|
|
NM_000138.5(FBN1):c.2100T>C (p.Pro700=)
|
|
|
NM_000138.5(FBN1):c.2103A>G (p.Ala701=)
|
rs2141315644
|
|
NM_000138.5(FBN1):c.2113+18_2113+19delinsAT
|
|
|
NM_000138.5(FBN1):c.2114-15G>C
|
rs1566912665
|
|
NM_000138.5(FBN1):c.2114-20T>C
|
|
|
NM_000138.5(FBN1):c.2114-7A>G
|
|
|
NM_000138.5(FBN1):c.2167+19A>C
|
|
|
NM_000138.5(FBN1):c.2168-11T>C
|
|
|
NM_000138.5(FBN1):c.2168-15T>G
|
|
|
NM_000138.5(FBN1):c.2168-4G>A
|
rs2141306607
|
|
NM_000138.5(FBN1):c.2187A>G (p.Leu729=)
|
rs61730055
|
|
NM_000138.5(FBN1):c.223C>T (p.Pro75Ser)
|
rs886051252
|
|
NM_000138.5(FBN1):c.2241A>G (p.Lys747=)
|
rs1045070535
|
|
NM_000138.5(FBN1):c.2268G>A (p.Val756=)
|
rs2141306354
|
|
NM_000138.5(FBN1):c.2277T>C (p.Thr759=)
|
rs1028807052
|
|
NM_000138.5(FBN1):c.2277T>G (p.Thr759=)
|
|
|
NM_000138.5(FBN1):c.228C>G (p.Gly76=)
|
rs141651917
|
|
NM_000138.5(FBN1):c.2293+14C>A
|
|
|
NM_000138.5(FBN1):c.2293+15C>T
|
|
|
NM_000138.5(FBN1):c.2293+17A>G
|
|
|
NM_000138.5(FBN1):c.2293+8G>A
|
|
|
NM_000138.5(FBN1):c.2293+8G>T
|
|
|
NM_000138.5(FBN1):c.2294-18T>C
|
|
|
NM_000138.5(FBN1):c.2294-20T>C
|
|
|
NM_000138.5(FBN1):c.2294-9_2294-4del
|
rs1597569681
|
|
NM_000138.5(FBN1):c.2340A>G (p.Gln780=)
|
|
|
NM_000138.5(FBN1):c.2343T>C (p.Cys781=)
|
rs199647257
|
|
NM_000138.5(FBN1):c.2352T>A (p.Thr784=)
|
rs2141305065
|
|
NM_000138.5(FBN1):c.2376C>T (p.Cys792=)
|
rs1060504142
|
|
NM_000138.5(FBN1):c.2377C>T (p.Pro793Ser)
|
|
|
NM_000138.5(FBN1):c.237G>A (p.Gln79=)
|
|
|
NM_000138.5(FBN1):c.2385A>T (p.Gly795=)
|
|
|
NM_000138.5(FBN1):c.2391C>T (p.Ile797=)
|
rs2141304992
|
|
NM_000138.5(FBN1):c.2397A>G (p.Lys799=)
|
|
|
NM_000138.5(FBN1):c.2404C>T (p.Leu802=)
|
|
|
NM_000138.5(FBN1):c.2419+16G>C
|
|
|
NM_000138.5(FBN1):c.2451T>G (p.Ile817Met)
|
|
|
NM_000138.5(FBN1):c.247+20G>A
|
rs2140737315
|
|
NM_000138.5(FBN1):c.247+9A>C
|
rs1298547542
|
|
NM_000138.5(FBN1):c.248-4A>G
|
rs1597631751
|
|
NM_000138.5(FBN1):c.2493A>G (p.Glu831=)
|
rs756410019
|
|
NM_000138.5(FBN1):c.2508T>C (p.Ser836=)
|
rs193922190
|
|
NM_000138.5(FBN1):c.2521A>T (p.Thr841Ser)
|
rs1381506466
|
|
NM_000138.5(FBN1):c.2529C>T (p.Thr843=)
|
|
|
NM_000138.5(FBN1):c.2539+10T>A
|
rs878853679
|
|
NM_000138.5(FBN1):c.2539+10T>C
|
rs878853679
|
|
NM_000138.5(FBN1):c.2539+11T>C
|
|
|
NM_000138.5(FBN1):c.2539+13C>T
|
|
|
NM_000138.5(FBN1):c.2539+17G>A
|
|
|
NM_000138.5(FBN1):c.2539+19A>T
|
rs370949913
|
|
NM_000138.5(FBN1):c.2539+9C>T
|
rs765271763
|
|
NM_000138.5(FBN1):c.2540-10T>A
|
|
|
NM_000138.5(FBN1):c.2544C>T (p.Thr848=)
|
rs2043596539
|
|
NM_000138.5(FBN1):c.2568T>C (p.Thr856=)
|
|
|
NM_000138.5(FBN1):c.258G>T (p.Arg86=)
|
|
|
NM_000138.5(FBN1):c.2601T>C (p.Asn867=)
|
|
|
NM_000138.5(FBN1):c.2613A>G (p.Leu871=)
|
rs770290542
|
|
NM_000138.5(FBN1):c.2646G>A (p.Ala882=)
|
rs376040442
|
|
NM_000138.5(FBN1):c.2646G>C (p.Ala882=)
|
rs376040442
|
|
NM_000138.5(FBN1):c.2662A>T (p.Thr888Ser)
|
|
|
NM_000138.5(FBN1):c.2664C>T (p.Thr888=)
|
rs1597568804
|
|
NM_000138.5(FBN1):c.2665C>G (p.Leu889Val)
|
|
|
NM_000138.5(FBN1):c.2666T>A (p.Leu889Gln)
|
|
|
NM_000138.5(FBN1):c.2667A>G (p.Leu889=)
|
rs780192241
|
|
NM_000138.5(FBN1):c.2674G>A (p.Val892Ile)
|
|
|
NM_000138.5(FBN1):c.2677+14A>G
|
|
|
NM_000138.5(FBN1):c.2677+15T>C
|
|
|
NM_000138.5(FBN1):c.2677+16G>A
|
|
|
NM_000138.5(FBN1):c.2677+18T>G
|
|
|
NM_000138.5(FBN1):c.2678-10T>C
|
rs1457653118
|
|
NM_000138.5(FBN1):c.2678-8T>C
|
|
|
NM_000138.5(FBN1):c.2678-9T>A
|
rs2141302502
|
|
NM_000138.5(FBN1):c.2691T>C (p.Gly897=)
|
rs1555399096
|
|
NM_000138.5(FBN1):c.2718A>G (p.Thr906=)
|
rs2141302366
|
|
NM_000138.5(FBN1):c.2721A>G (p.Gln907=)
|
rs781062880
|
|
NM_000138.5(FBN1):c.2721A>T (p.Gln907His)
|
rs781062880
|
|
NM_000138.5(FBN1):c.2728+13A>G
|
|
|
NM_000138.5(FBN1):c.2728+14C>G
|
|
|
NM_000138.5(FBN1):c.2728+16T>G
|
|
|
NM_000138.5(FBN1):c.2728+18T>A
|
|
|
NM_000138.5(FBN1):c.2728+18T>C
|
|
|
NM_000138.5(FBN1):c.2729-11T>C
|
|
|
NM_000138.5(FBN1):c.2729-13T>G
|
|
|
NM_000138.5(FBN1):c.2729-14T>G
|
|
|
NM_000138.5(FBN1):c.2729-16T>C
|
|
|
NM_000138.5(FBN1):c.2729-17T>C
|
|
|
NM_000138.5(FBN1):c.2729-19A>T
|
|
|
NM_000138.5(FBN1):c.2729-3del
|
rs756503206
|
|
NM_000138.5(FBN1):c.2729-7T>C
|
rs1269178652
|
|
NM_000138.5(FBN1):c.2729-8C>A
|
rs775257418
|
|
NM_000138.5(FBN1):c.2729-8C>T
|
rs775257418
|
|
NM_000138.5(FBN1):c.2736T>C (p.Asp912=)
|
|
|
NM_000138.5(FBN1):c.2784C>T (p.Asn928=)
|
|
|
NM_000138.5(FBN1):c.2790G>A (p.Arg930=)
|
|
|
NM_000138.5(FBN1):c.2796A>G (p.Ser932=)
|
rs1261762653
|
|
NM_000138.5(FBN1):c.2799C>T (p.Phe933=)
|
rs2141300339
|
|
NM_000138.5(FBN1):c.27C>T (p.Ile9=)
|
rs1057522209
|
|
NM_000138.5(FBN1):c.2808G>A (p.Gln936=)
|
|
|
NM_000138.5(FBN1):c.2817T>C (p.Ser939=)
|
rs1254659886
|
|
NM_000138.5(FBN1):c.2854+10G>A
|
rs768540741
|
|
NM_000138.5(FBN1):c.2854+11A>G
|
|
|
NM_000138.5(FBN1):c.2854+15C>T
|
|
|
NM_000138.5(FBN1):c.2854+20T>C
|
|
|
NM_000138.5(FBN1):c.2854+7A>G
|
|
|
NM_000138.5(FBN1):c.2854+9T>G
|
|
|
NM_000138.5(FBN1):c.2855-11C>T
|
|
|
NM_000138.5(FBN1):c.2855-16T>C
|
rs2141297617
|
|
NM_000138.5(FBN1):c.2855-18C>G
|
|
|
NM_000138.5(FBN1):c.2855-19C>T
|
|
|
NM_000138.5(FBN1):c.2855-8T>C
|
rs193922195
|
|
NM_000138.5(FBN1):c.2856T>C (p.Asp952=)
|
|
|
NM_000138.5(FBN1):c.2905C>T (p.Leu969=)
|
rs376776832
|
|
NM_000138.5(FBN1):c.2913T>C (p.Ile971=)
|
rs2141297416
|
|
NM_000138.5(FBN1):c.2934C>T (p.Asp978=)
|
rs138438849
|
|
NM_000138.5(FBN1):c.2952C>A (p.Val984=)
|
rs374670384
|
|
NM_000138.5(FBN1):c.2957C>T (p.Ala986Val)
|
|
|
NM_000138.5(FBN1):c.2961C>G (p.Ala987=)
|
|
|
NM_000138.5(FBN1):c.2982G>A (p.Glu994=)
|
rs758745637
|
|
NM_000138.5(FBN1):c.2985G>A (p.Glu995=)
|
|
|
NM_000138.5(FBN1):c.3006T>C (p.Pro1002=)
|
rs2141297191
|
|
NM_000138.5(FBN1):c.3012C>T (p.Tyr1004=)
|
rs397515784
|
|
NM_000138.5(FBN1):c.3015G>A (p.Glu1005=)
|
rs1430562775
|
|
NM_000138.5(FBN1):c.3027G>A (p.Pro1009=)
|
rs774381427
|
|
NM_000138.5(FBN1):c.3051A>G (p.Lys1017=)
|
|
|
NM_000138.5(FBN1):c.3054A>G (p.Glu1018=)
|
rs1060504141
|
|
NM_000138.5(FBN1):c.3078C>T (p.Phe1026=)
|
rs553411757
|
|
NM_000138.5(FBN1):c.3082+11dup
|
|
|
NM_000138.5(FBN1):c.3082+12C>G
|
|
|
NM_000138.5(FBN1):c.3082+12C>T
|
|
|
NM_000138.5(FBN1):c.3082+8G>A
|
|
|
NM_000138.5(FBN1):c.3082+9T>C
|
rs746303949
|
|
NM_000138.5(FBN1):c.3083-18A>G
|
|
|
NM_000138.5(FBN1):c.3083-9T>C
|
|
|
NM_000138.5(FBN1):c.30C>A (p.Ala10=)
|
rs1373206190
|
|
NM_000138.5(FBN1):c.30C>T (p.Ala10=)
|
|
|
NM_000138.5(FBN1):c.3102G>A (p.Met1034Ile)
|
|
|
NM_000138.5(FBN1):c.3111C>T (p.Ser1037=)
|
rs2141295290
|
|
NM_000138.5(FBN1):c.3123C>A (p.His1041Gln)
|
|
|
NM_000138.5(FBN1):c.3123C>T (p.His1041=)
|
rs576395584
|
|
NM_000138.5(FBN1):c.3144T>A (p.Ile1048=)
|
rs112384723
|
|
NM_000138.5(FBN1):c.3201C>T (p.Asn1067=)
|
|
|
NM_000138.5(FBN1):c.3208+10T>C
|
rs1597564173
|
|
NM_000138.5(FBN1):c.3208+13G>A
|
rs2043527577
|
|
NM_000138.5(FBN1):c.3208+14C>G
|
|
|
NM_000138.5(FBN1):c.3208+7T>A
|
|
|
NM_000138.5(FBN1):c.3209-11T>G
|
|
|
NM_000138.5(FBN1):c.3209-13T>C
|
|
|
NM_000138.5(FBN1):c.3209-19A>G
|
|
|
NM_000138.5(FBN1):c.3209-6G>C
|
rs942309418
|
|
NM_000138.5(FBN1):c.3210C>T (p.Asp1070=)
|
rs754970748
|
|
NM_000138.5(FBN1):c.3213T>A (p.Ile1071=)
|
|
|
NM_000138.5(FBN1):c.3297A>G (p.Glu1099=)
|
rs1555398626
|
|
NM_000138.5(FBN1):c.3334A>T (p.Met1112Leu)
|
|
|
NM_000138.5(FBN1):c.3337+15A>T
|
|
|
NM_000138.5(FBN1):c.3338-16C>T
|
|
|
NM_000138.5(FBN1):c.3338-18del
|
|
|
NM_000138.5(FBN1):c.3366C>T (p.Leu1122=)
|
rs2141293747
|
|
NM_000138.5(FBN1):c.336C>T (p.Gly112=)
|
rs1555405526
|
|
NM_000138.5(FBN1):c.3390T>C (p.His1130=)
|
|
|
NM_000138.5(FBN1):c.339C>T (p.Ser113=)
|
|
|
NM_000138.5(FBN1):c.3402A>G (p.Gly1134=)
|
|
|
NM_000138.5(FBN1):c.3411C>T (p.Arg1137=)
|
rs878853681
|
|
NM_000138.5(FBN1):c.3447C>T (p.Asn1149=)
|
|
|
NM_000138.5(FBN1):c.3463+15T>A
|
rs1597563076
|
|
NM_000138.5(FBN1):c.3464-16_3464-14del
|
rs775944757
|
|
NM_000138.5(FBN1):c.347-19CTT[2]
|
rs756583965
|
|
NM_000138.5(FBN1):c.3471T>C (p.Asn1157=)
|
|
|
NM_000138.5(FBN1):c.3487G>A (p.Ala1163Thr)
|
|
|
NM_000138.5(FBN1):c.3516G>C (p.Val1172=)
|
rs2141293239
|
|
NM_000138.5(FBN1):c.3528G>A (p.Gly1176=)
|
rs902201289
|
|
NM_000138.5(FBN1):c.3537G>A (p.Gln1179=)
|
|
|
NM_000138.5(FBN1):c.3579A>G (p.Leu1193=)
|
|
|
NM_000138.5(FBN1):c.3582T>C (p.Phe1194=)
|
rs2141293096
|
|
NM_000138.5(FBN1):c.3586G>A (p.Val1196Ile)
|
rs1352765609
|
|
NM_000138.5(FBN1):c.3590-10T>C
|
rs1384307516
|
|
NM_000138.5(FBN1):c.3590-11A>G
|
rs777262423
|
|
NM_000138.5(FBN1):c.3590-17_3590-15del
|
|
|
NM_000138.5(FBN1):c.3590-19T>C
|
|
|
NM_000138.5(FBN1):c.3590-9T>A
|
|
|
NM_000138.5(FBN1):c.359A>G (p.Asn120Ser)
|
rs753900024
|
|
NM_000138.5(FBN1):c.3605G>A (p.Ser1202Asn)
|
rs758542279
|
|
NM_000138.5(FBN1):c.3712+16C>T
|
|
|
NM_000138.5(FBN1):c.3712+9G>A
|
|
|
NM_000138.5(FBN1):c.3712+9G>T
|
rs769251450
|
|
NM_000138.5(FBN1):c.3713-17G>T
|
|
|
NM_000138.5(FBN1):c.3713-4G>A
|
rs2141289788
|
|
NM_000138.5(FBN1):c.3730G>A (p.Asp1244Asn)
|
|
|
NM_000138.5(FBN1):c.3780G>A (p.Glu1260=)
|
|
|
NM_000138.5(FBN1):c.3786G>A (p.Arg1262=)
|
rs1555398280
|
|
NM_000138.5(FBN1):c.378A>C (p.Gly126=)
|
|
|
NM_000138.5(FBN1):c.3801T>C (p.Asp1267=)
|
rs769208631
|
|
NM_000138.5(FBN1):c.381T>C (p.Gly127=)
|
|
|
NM_000138.5(FBN1):c.3838+16A>G
|
|
|
NM_000138.5(FBN1):c.3838+18A>T
|
|
|
NM_000138.5(FBN1):c.3839-15A>C
|
|
|
NM_000138.5(FBN1):c.3839-19T>C
|
|
|
NM_000138.5(FBN1):c.3839-20A>G
|
rs891189448
|
|
NM_000138.5(FBN1):c.3843C>A (p.Val1281=)
|
|
|
NM_000138.5(FBN1):c.3849G>A (p.Glu1283=)
|
|
|
NM_000138.5(FBN1):c.3870C>T (p.Ile1290=)
|
rs2043466994
|
|
NM_000138.5(FBN1):c.3897G>C (p.Thr1299=)
|
rs771283158
|
|
NM_000138.5(FBN1):c.3936C>A (p.Ser1312=)
|
rs779913610
|
|
NM_000138.5(FBN1):c.3939C>G (p.Gly1313=)
|
rs1597558962
|
|
NM_000138.5(FBN1):c.3964+12C>G
|
|
|
NM_000138.5(FBN1):c.3964+13A>C
|
|
|
NM_000138.5(FBN1):c.3964+9G>T
|
rs1412748899
|
|
NM_000138.5(FBN1):c.3965-10A>G
|
|
|
NM_000138.5(FBN1):c.3965-15dup
|
rs2043405703
|
|
NM_000138.5(FBN1):c.3966C>T (p.Asp1322=)
|
rs2141280317
|
|
NM_000138.5(FBN1):c.3969C>A (p.Ile1323=)
|
rs536546914
|
|
NM_000138.5(FBN1):c.3975A>G (p.Glu1325=)
|
rs1555397741
|
|
NM_000138.5(FBN1):c.3988G>A (p.Ala1330Thr)
|
|
|
NM_000138.5(FBN1):c.4023T>C (p.Asn1341=)
|
rs2043404831
|
|
NM_000138.5(FBN1):c.4035C>T (p.Ser1345=)
|
rs1400471354
|
|
NM_000138.5(FBN1):c.4065T>A (p.Ile1355=)
|
|
|
NM_000138.5(FBN1):c.4068A>C (p.Gly1356=)
|
rs1555397706
|
|
NM_000138.5(FBN1):c.4088-13C>T
|
|
|
NM_000138.5(FBN1):c.4088-14C>A
|
|
|
NM_000138.5(FBN1):c.4088-15A>C
|
|
|
NM_000138.5(FBN1):c.4088-17T>C
|
rs1397067049
|
|
NM_000138.5(FBN1):c.4088-8T>C
|
|
|
NM_000138.5(FBN1):c.4107T>C (p.Asn1369=)
|
rs765588220
|
|
NM_000138.5(FBN1):c.4134A>T (p.Ala1378=)
|
|
|
NM_000138.5(FBN1):c.4146T>C (p.Asn1382=)
|
|
|
NM_000138.5(FBN1):c.4149C>G (p.Thr1383=)
|
|
|
NM_000138.5(FBN1):c.4152G>A (p.Met1384Ile)
|
rs1488326228
|
|
NM_000138.5(FBN1):c.4155A>T (p.Gly1385=)
|
rs2141279769
|
|
NM_000138.5(FBN1):c.4164C>A (p.Arg1388=)
|
|
|
NM_000138.5(FBN1):c.4179A>G (p.Glu1393=)
|
rs1597553731
|
|
NM_000138.5(FBN1):c.4185C>T (p.Tyr1395=)
|
rs2043401602
|
|
NM_000138.5(FBN1):c.4190G>T (p.Gly1397Val)
|
rs747867726
|
|
NM_000138.5(FBN1):c.4191T>C (p.Gly1397=)
|
|
|
NM_000138.5(FBN1):c.4197C>T (p.Gly1399=)
|
|
|
NM_000138.5(FBN1):c.4210+11G>A
|
rs148057138
|
|
NM_000138.5(FBN1):c.4210+14G>T
|
|
|
NM_000138.5(FBN1):c.4210+15G>A
|
|
|
NM_000138.5(FBN1):c.4210+15G>C
|
|
|
NM_000138.5(FBN1):c.4210+16A>C
|
|
|
NM_000138.5(FBN1):c.4210+16A>G
|
|
|
NM_000138.5(FBN1):c.4211-12_4211-9del
|
rs1597552613
|
|
NM_000138.5(FBN1):c.4211-5T>C
|
|
|
NM_000138.5(FBN1):c.4211-8G>C
|
rs764384543
|
|
NM_000138.5(FBN1):c.4230G>A (p.Glu1410=)
|
|
|
NM_000138.5(FBN1):c.4254C>G (p.Gly1418=)
|
|
|
NM_000138.5(FBN1):c.4263C>G (p.Leu1421=)
|
|
|
NM_000138.5(FBN1):c.4269A>T (p.Ala1423=)
|
rs775256810
|
|
NM_000138.5(FBN1):c.4281C>T (p.Tyr1427=)
|
|
|
NM_000138.5(FBN1):c.4293C>T (p.Cys1431=)
|
rs112375043
|
|
NM_000138.5(FBN1):c.4305C>T (p.Phe1435=)
|
rs1243628683
|
|
NM_000138.5(FBN1):c.4306G>T (p.Val1436Leu)
|
rs377338217
|
|
NM_000138.5(FBN1):c.431A>G (p.His144Arg)
|
|
|
NM_000138.5(FBN1):c.4336+19A>G
|
rs2043384546
|
|
NM_000138.5(FBN1):c.4336+4_4336+11dup
|
|
|
NM_000138.5(FBN1):c.4336+9T>A
|
|
|
NM_000138.5(FBN1):c.4337-12C>T
|
rs573468967
|
|
NM_000138.5(FBN1):c.4337-4dup
|
rs1566905439
|
|
NM_000138.5(FBN1):c.4337-8C>A
|
rs1458842000
|
|
NM_000138.5(FBN1):c.4362C>T (p.Asn1454=)
|
rs1060504145
|
|
NM_000138.5(FBN1):c.4395T>C (p.Pro1465=)
|
rs1555397410
|
|
NM_000138.5(FBN1):c.4401G>A (p.Leu1467=)
|
|
|
NM_000138.5(FBN1):c.4401G>C (p.Leu1467=)
|
rs747377334
|
|
NM_000138.5(FBN1):c.4404C>T (p.Phe1468=)
|
rs780479561
|
|
NM_000138.5(FBN1):c.442+8C>T
|
rs771771077
|
|
NM_000138.5(FBN1):c.443-12C>A
|
rs1027154934
|
|
NM_000138.5(FBN1):c.443-13C>T
|
|
|
NM_000138.5(FBN1):c.443-17C>G
|
|
|
NM_000138.5(FBN1):c.443-20G>A
|
|
|
NM_000138.5(FBN1):c.443-8T>C
|
rs1319616777
|
|
NM_000138.5(FBN1):c.443-9A>T
|
|
|
NM_000138.5(FBN1):c.4459+16G>A
|
|
|
NM_000138.5(FBN1):c.4503C>T (p.Asn1501=)
|
rs2043341420
|
|
NM_000138.5(FBN1):c.4512C>T (p.Asn1504=)
|
|
|
NM_000138.5(FBN1):c.4569A>T (p.Arg1523=)
|
rs2141272876
|
|
NM_000138.5(FBN1):c.4582+11A>G
|
|
|
NM_000138.5(FBN1):c.4582+19_4582+21del
|
|
|
NM_000138.5(FBN1):c.4582+7C>T
|
rs768496209
|
|
NM_000138.5(FBN1):c.4583-12T>C
|
rs1326100045
|
|
NM_000138.5(FBN1):c.4583-18T>C
|
|
|
NM_000138.5(FBN1):c.4583-6A>T
|
|
|
NM_000138.5(FBN1):c.4583-8G>C
|
rs910464222
|
|
NM_000138.5(FBN1):c.4583-9G>C
|
rs2043338449
|
|
NM_000138.5(FBN1):c.4587C>T (p.Thr1529=)
|
rs1366052911
|
|
NM_000138.5(FBN1):c.4593T>C (p.Ser1531=)
|
rs985992262
|
|
NM_000138.5(FBN1):c.4620T>G (p.Pro1540=)
|
|
|
NM_000138.5(FBN1):c.4656A>G (p.Glu1552=)
|
rs768210642
|
|
NM_000138.5(FBN1):c.465C>T (p.Leu155=)
|
|
|
NM_000138.5(FBN1):c.4671T>C (p.Val1557=)
|
rs978094803
|
|
NM_000138.5(FBN1):c.4731T>C (p.Cys1577=)
|
|
|
NM_000138.5(FBN1):c.4747+15T>G
|
|
|
NM_000138.5(FBN1):c.4747+19A>G
|
rs2141272191
|
|
NM_000138.5(FBN1):c.4747+8G>A
|
rs368739764
|
|
NM_000138.5(FBN1):c.4747+8G>C
|
|
|
NM_000138.5(FBN1):c.4748-10G>A
|
|
|
NM_000138.5(FBN1):c.4748-10G>C
|
|
|
NM_000138.5(FBN1):c.4748-19T>A
|
|
|
NM_000138.5(FBN1):c.4748-3T>C
|
rs770762644
|
|
NM_000138.5(FBN1):c.4749C>T (p.Ser1583=)
|
rs1275608178
|
|
NM_000138.5(FBN1):c.4764T>C (p.Leu1588=)
|
rs2043316351
|
|
NM_000138.5(FBN1):c.4791A>C (p.Pro1597=)
|
rs2043316050
|
|
NM_000138.5(FBN1):c.4816+8_4816+9insTACCTTCCTT
|
rs878853684
|
|
NM_000138.5(FBN1):c.4817-14T>G
|
|
|
NM_000138.5(FBN1):c.4817-16G>T
|
|
|
NM_000138.5(FBN1):c.4817-7T>C
|
|
|
NM_000138.5(FBN1):c.4817-8T>C
|
rs2043315040
|
|
NM_000138.5(FBN1):c.4827G>A (p.Glu1609=)
|
|
|
NM_000138.5(FBN1):c.4848G>C (p.Leu1616=)
|
|
|
NM_000138.5(FBN1):c.4863A>G (p.Lys1621=)
|
rs2043314687
|
|
NM_000138.5(FBN1):c.486C>G (p.Ala162=)
|
|
|
NM_000138.5(FBN1):c.486C>T (p.Ala162=)
|
rs2044515505
|
|
NM_000138.5(FBN1):c.4881G>A (p.Gly1627=)
|
|
|
NM_000138.5(FBN1):c.4896C>G (p.Arg1632=)
|
rs2141269637
|
|
NM_000138.5(FBN1):c.4905C>T (p.Thr1635=)
|
rs113115949
|
|
NM_000138.5(FBN1):c.4914C>T (p.Tyr1638=)
|
|
|
NM_000138.5(FBN1):c.4917G>T (p.Leu1639=)
|
|
|
NM_000138.5(FBN1):c.4935G>A (p.Val1645=)
|
rs886038897
|
|
NM_000138.5(FBN1):c.4942+19A>C
|
|
|
NM_000138.5(FBN1):c.4942+19A>T
|
rs2141269507
|
|
NM_000138.5(FBN1):c.4942+20T>A
|
|
|
NM_000138.5(FBN1):c.4942+8G>C
|
|
|
NM_000138.5(FBN1):c.4942+9T>G
|
|
|
NM_000138.5(FBN1):c.4943-13C>T
|
|
|
NM_000138.5(FBN1):c.4943-15C>A
|
|
|
NM_000138.5(FBN1):c.4943-25_4943-19del
|
|
|
NM_000138.5(FBN1):c.4943-4A>G
|
rs1555396865
|
|
NM_000138.5(FBN1):c.4962T>C (p.Thr1654=)
|
|
|
NM_000138.5(FBN1):c.4998C>T (p.Thr1666=)
|
rs141925790
|
|
NM_000138.5(FBN1):c.5013C>T (p.Thr1671=)
|
|
|
NM_000138.5(FBN1):c.5031C>T (p.Asp1677=)
|
rs1597545860
|
|
NM_000138.5(FBN1):c.5066-12C>T
|
rs531105331
|
|
NM_000138.5(FBN1):c.5066-19T>C
|
|
|
NM_000138.5(FBN1):c.5066-5dup
|
|
|
NM_000138.5(FBN1):c.5076A>G (p.Arg1692=)
|
rs2141266766
|
|
NM_000138.5(FBN1):c.5100T>C (p.Tyr1700=)
|
|
|
NM_000138.5(FBN1):c.5109C>T (p.Asn1703=)
|
rs1235270306
|
|
NM_000138.5(FBN1):c.5121T>C (p.Asp1707=)
|
rs1031351464
|
|
NM_000138.5(FBN1):c.5178C>T (p.Gly1726=)
|
rs1303761807
|
|
NM_000138.5(FBN1):c.5181G>C (p.Arg1727=)
|
rs1288751290
|
|
NM_000138.5(FBN1):c.5214C>T (p.Ile1738=)
|
|
|
NM_000138.5(FBN1):c.5224+11G>A
|
rs776454928
|
|
NM_000138.5(FBN1):c.5225-10A>T
|
|
|
NM_000138.5(FBN1):c.5232T>C (p.Phe1744=)
|
|
|
NM_000138.5(FBN1):c.5271C>T (p.Ile1757=)
|
rs1291913287
|
|
NM_000138.5(FBN1):c.5272G>A (p.Asp1758Asn)
|
|
|
NM_000138.5(FBN1):c.5274C>T (p.Asp1758=)
|
rs1566902542
|
|
NM_000138.5(FBN1):c.5283C>G (p.Thr1761=)
|
|
|
NM_000138.5(FBN1):c.5296+10G>A
|
|
|
NM_000138.5(FBN1):c.5296+12C>G
|
rs566030960
|
|
NM_000138.5(FBN1):c.5296+7C>T
|
|
|
NM_000138.5(FBN1):c.5296+8A>C
|
|
|
NM_000138.5(FBN1):c.5297-10C>T
|
|
|
NM_000138.5(FBN1):c.5297-15C>T
|
|
|
NM_000138.5(FBN1):c.5307G>A (p.Glu1769=)
|
|
|
NM_000138.5(FBN1):c.5343G>C (p.Val1781=)
|
|
|
NM_000138.5(FBN1):c.5358T>C (p.Val1786=)
|
rs1057521207
|
|
NM_000138.5(FBN1):c.5367C>T (p.Phe1789=)
|
|
|
NM_000138.5(FBN1):c.538+12T>A
|
|
|
NM_000138.5(FBN1):c.5391C>T (p.Phe1797=)
|
rs775373513
|
|
NM_000138.5(FBN1):c.5403C>T (p.Asp1801=)
|
|
|
NM_000138.5(FBN1):c.5409G>A (p.Leu1803=)
|
rs906226501
|
|
NM_000138.5(FBN1):c.5422+13A>T
|
|
|
NM_000138.5(FBN1):c.5423-16T>C
|
|
|
NM_000138.5(FBN1):c.5423-19A>G
|
|
|
NM_000138.5(FBN1):c.5427T>C (p.Ile1809=)
|
rs2141256134
|
|
NM_000138.5(FBN1):c.5448A>G (p.Pro1816=)
|
rs2043210295
|
|
NM_000138.5(FBN1):c.5478C>T (p.Asn1826=)
|
rs1213848361
|
|
NM_000138.5(FBN1):c.5532A>G (p.Thr1844=)
|
|
|
NM_000138.5(FBN1):c.5545+12C>T
|
rs193922213
|
|
NM_000138.5(FBN1):c.5545+15A>G
|
|
|
NM_000138.5(FBN1):c.5545+19G>C
|
|
|
NM_000138.5(FBN1):c.5546-11C>G
|
|
|
NM_000138.5(FBN1):c.5546-15G>A
|
|
|
NM_000138.5(FBN1):c.5546-8A>T
|
|
|
NM_000138.5(FBN1):c.5586T>C (p.His1862=)
|
|
|
NM_000138.5(FBN1):c.5597T>C (p.Ile1866Thr)
|
rs773133679
|
|
NM_000138.5(FBN1):c.5604A>G (p.Thr1868=)
|
|
|
NM_000138.5(FBN1):c.5607T>C (p.Val1869=)
|
rs1597535252
|
|
NM_000138.5(FBN1):c.5619T>C (p.Tyr1873=)
|
|
|
NM_000138.5(FBN1):c.5637T>G (p.Gly1879=)
|
|
|
NM_000138.5(FBN1):c.5672-14T>C
|
|
|
NM_000138.5(FBN1):c.5672-3T>C
|
rs193922217
|
|
NM_000138.5(FBN1):c.5672-5A>G
|
|
|
NM_000138.5(FBN1):c.5672-6T>A
|
rs1555395850
|
|
NM_000138.5(FBN1):c.5697C>T (p.Ala1899=)
|
rs772617187
|
|
NM_000138.5(FBN1):c.5706T>C (p.Asn1902=)
|
rs1597533673
|
|
NM_000138.5(FBN1):c.570C>T (p.Ile190=)
|
|
|
NM_000138.5(FBN1):c.5718G>C (p.Arg1906=)
|
rs1403178913
|
|
NM_000138.5(FBN1):c.5725A>G (p.Ile1909Val)
|
|
|
NM_000138.5(FBN1):c.5788+10del
|
rs761983874
|
|
NM_000138.5(FBN1):c.5788+13_5788+14del
|
rs886038252
|
|
NM_000138.5(FBN1):c.5788+15T>A
|
rs543458649
|
|
NM_000138.5(FBN1):c.5788+15T>C
|
rs543458649
|
|
NM_000138.5(FBN1):c.5789-13G>A
|
rs777593835
|
|
NM_000138.5(FBN1):c.57C>G (p.Ser19=)
|
rs1890261910
|
|
NM_000138.5(FBN1):c.5838A>G (p.Gln1946=)
|
rs759049300
|
|
NM_000138.5(FBN1):c.5850A>G (p.Thr1950=)
|
rs2043151355
|
|
NM_000138.5(FBN1):c.5892G>A (p.Val1964=)
|
|
|
NM_000138.5(FBN1):c.5917+11G>A
|
|
|
NM_000138.5(FBN1):c.5917+15del
|
|
|
NM_000138.5(FBN1):c.5917+20A>G
|
|
|
NM_000138.5(FBN1):c.5917+8C>T
|
rs1566898389
|
|
NM_000138.5(FBN1):c.5989A>C (p.Arg1997=)
|
|
|
NM_000138.5(FBN1):c.5994C>T (p.Cys1998=)
|
rs1555395648
|
|
NM_000138.5(FBN1):c.600C>T (p.Ser200=)
|
|
|
NM_000138.5(FBN1):c.6015T>C (p.Ser2005=)
|
|
|
NM_000138.5(FBN1):c.6037+10C>T
|
rs2141247970
|
|
NM_000138.5(FBN1):c.6037+16G>A
|
|
|
NM_000138.5(FBN1):c.6037+17T>C
|
|
|
NM_000138.5(FBN1):c.6038-13G>T
|
rs536742402
|
|
NM_000138.5(FBN1):c.6038-14T>C
|
rs369107058
|
|
NM_000138.5(FBN1):c.6038-16C>T
|
|
|
NM_000138.5(FBN1):c.6038-23_6038-20del
|
|
|
NM_000138.5(FBN1):c.6048G>A (p.Glu2016=)
|
rs991367684
|
|
NM_000138.5(FBN1):c.6060G>A (p.Glu2020=)
|
rs1597529860
|
|
NM_000138.5(FBN1):c.6075C>G (p.Ala2025=)
|
rs1597529820
|
|
NM_000138.5(FBN1):c.6084A>G (p.Thr2028=)
|
rs1597529803
|
|
NM_000138.5(FBN1):c.6111A>G (p.Lys2037=)
|
|
|
NM_000138.5(FBN1):c.6123A>G (p.Pro2041=)
|
|
|
NM_000138.5(FBN1):c.6129G>T (p.Gly2043=)
|
|
|
NM_000138.5(FBN1):c.6141C>T (p.Ser2047=)
|
rs2141245369
|
|
NM_000138.5(FBN1):c.6144C>T (p.Ser2048=)
|
|
|
NM_000138.5(FBN1):c.6163+17G>C
|
|
|
NM_000138.5(FBN1):c.6163+8T>G
|
|
|
NM_000138.5(FBN1):c.6164-5T>C
|
rs2043085940
|
|
NM_000138.5(FBN1):c.6188C>T (p.Ala2063Val)
|
|
|
NM_000138.5(FBN1):c.6207G>A (p.Lys2069=)
|
rs1021415072
|
|
NM_000138.5(FBN1):c.6219C>T (p.Pro2073=)
|
rs771786623
|
|
NM_000138.5(FBN1):c.621G>A (p.Thr207=)
|
rs765173237
|
|
NM_000138.5(FBN1):c.6243G>A (p.Gln2081=)
|
|
|
NM_000138.5(FBN1):c.6303G>A (p.Thr2101=)
|
rs2043084739
|
|
NM_000138.5(FBN1):c.6313+9G>A
|
|
|
NM_000138.5(FBN1):c.6314-14T>A
|
|
|
NM_000138.5(FBN1):c.6314-14T>G
|
|
|
NM_000138.5(FBN1):c.6314-6C>G
|
|
|
NM_000138.5(FBN1):c.6314-6C>T
|
rs2141240971
|
|
NM_000138.5(FBN1):c.6314A>T (p.Glu2105Val)
|
rs1165109120
|
|
NM_000138.5(FBN1):c.6348G>A (p.Gly2116=)
|
|
|
NM_000138.5(FBN1):c.636A>C (p.Thr212=)
|
|
|
NM_000138.5(FBN1):c.6375A>C (p.Ala2125=)
|
rs2141240830
|
|
NM_000138.5(FBN1):c.6375A>G (p.Ala2125=)
|
rs2141240830
|
|
NM_000138.5(FBN1):c.6379+11T>A
|
|
|
NM_000138.5(FBN1):c.6379+16T>G
|
|
|
NM_000138.5(FBN1):c.6379+17G>T
|
|
|
NM_000138.5(FBN1):c.6379+9C>T
|
rs1555395223
|
|
NM_000138.5(FBN1):c.6380-20T>C
|
|
|
NM_000138.5(FBN1):c.63G>A (p.Thr21=)
|
rs2140787726
|
|
NM_000138.5(FBN1):c.63G>C (p.Thr21=)
|
|
|
NM_000138.5(FBN1):c.645A>T (p.Arg215=)
|
rs200062771
|
|
NM_000138.5(FBN1):c.6496+10A>C
|
|
|
NM_000138.5(FBN1):c.6496+12G>A
|
rs899879407
|
|
NM_000138.5(FBN1):c.6497-13T>C
|
|
|
NM_000138.5(FBN1):c.6497-14_6497-12del
|
|
|
NM_000138.5(FBN1):c.6497-15C>T
|
rs569535886
|
|
NM_000138.5(FBN1):c.6497-19C>T
|
|
|
NM_000138.5(FBN1):c.6497-4G>A
|
|
|
NM_000138.5(FBN1):c.6497-9T>A
|
|
|
NM_000138.5(FBN1):c.6501T>C (p.Thr2167=)
|
rs2141237184
|
|
NM_000138.5(FBN1):c.6549T>C (p.Asn2183=)
|
|
|
NM_000138.5(FBN1):c.654C>T (p.Gly218=)
|
|
|
NM_000138.5(FBN1):c.6582G>A (p.Glu2194=)
|
|
|
NM_000138.5(FBN1):c.6591G>A (p.Glu2197=)
|
|
|
NM_000138.5(FBN1):c.6600A>G (p.Pro2200=)
|
|
|
NM_000138.5(FBN1):c.6616+17G>C
|
|
|
NM_000138.5(FBN1):c.6616+7C>G
|
rs778659143
|
|
NM_000138.5(FBN1):c.6617-11_6617-9del
|
rs2141235287
|
|
NM_000138.5(FBN1):c.6617-12C>T
|
|
|
NM_000138.5(FBN1):c.6617-17A>T
|
|
|
NM_000138.5(FBN1):c.6617-7G>C
|
|
|
NM_000138.5(FBN1):c.6636G>A (p.Gln2212=)
|
rs2141235218
|
|
NM_000138.5(FBN1):c.6643C>T (p.Leu2215=)
|
rs921997271
|
|
NM_000138.5(FBN1):c.6648C>A (p.Leu2216=)
|
rs755861623
|
|
NM_000138.5(FBN1):c.6648C>G (p.Leu2216=)
|
|
|
NM_000138.5(FBN1):c.6681A>T (p.Ser2227=)
|
rs363824
|
|
NM_000138.5(FBN1):c.6687A>G (p.Glu2229=)
|
|
|
NM_000138.5(FBN1):c.6705A>G (p.Gly2235=)
|
|
|
NM_000138.5(FBN1):c.6711G>A (p.Val2237=)
|
|
|
NM_000138.5(FBN1):c.6711G>T (p.Val2237=)
|
rs760867972
|
|
NM_000138.5(FBN1):c.6739+11G>A
|
|
|
NM_000138.5(FBN1):c.6739+13G>A
|
|
|
NM_000138.5(FBN1):c.6739+16C>T
|
|
|
NM_000138.5(FBN1):c.6740-10T>A
|
rs1456822662
|
|
NM_000138.5(FBN1):c.6740-11A>T
|
|
|
NM_000138.5(FBN1):c.6740-13A>C
|
|
|
NM_000138.5(FBN1):c.6740-17T>C
|
|
|
NM_000138.5(FBN1):c.6740-19G>C
|
|
|
NM_000138.5(FBN1):c.6750G>A (p.Glu2250=)
|
rs887646369
|
|
NM_000138.5(FBN1):c.6786A>G (p.Gln2262=)
|
|
|
NM_000138.5(FBN1):c.6801C>T (p.Asn2267=)
|
rs886051245
|
|
NM_000138.5(FBN1):c.6817A>G (p.Met2273Val)
|
|
|
NM_000138.5(FBN1):c.681G>A (p.Gln227=)
|
rs2141358095
|
|
NM_000138.5(FBN1):c.6832C>G (p.Pro2278Ala)
|
rs363835
|
|
NM_000138.5(FBN1):c.6837G>C (p.Gly2279=)
|
|
|
NM_000138.5(FBN1):c.6858A>G (p.Gly2286=)
|
|
|
NM_000138.5(FBN1):c.6871+10T>C
|
rs745421627
|
|
NM_000138.5(FBN1):c.6871+16T>C
|
|
|
NM_000138.5(FBN1):c.6871+7G>C
|
rs1597520513
|
|
NM_000138.5(FBN1):c.6871+8G>C
|
|
|
NM_000138.5(FBN1):c.6871+8G>T
|
|
|
NM_000138.5(FBN1):c.6871+9A>G
|
|
|
NM_000138.5(FBN1):c.6872-7C>T
|
|
|
NM_000138.5(FBN1):c.6872-961A>T
|
|
|
NM_000138.5(FBN1):c.687C>T (p.His229=)
|
rs1391600366
|
|
NM_000138.5(FBN1):c.6888G>T (p.Gln2296His)
|
rs363830
|
|
NM_000138.5(FBN1):c.6900G>A (p.Gly2300=)
|
|
|
NM_000138.5(FBN1):c.6915G>C (p.Gly2305=)
|
|
|
NM_000138.5(FBN1):c.6954T>C (p.Cys2318=)
|
|
|
NM_000138.5(FBN1):c.6972C>G (p.Ala2324=)
|
rs1597518738
|
|
NM_000138.5(FBN1):c.6987C>T (p.Asp2329=)
|
rs363831
|
|
NM_000138.5(FBN1):c.6997+10G>A
|
|
|
NM_000138.5(FBN1):c.6997+17_6997+18delinsGT
|
rs2141229764
|
|
NM_000138.5(FBN1):c.6997+19G>A
|
rs767445722
|
|
NM_000138.5(FBN1):c.6997+20C>T
|
|
|
NM_000138.5(FBN1):c.6997+7A>G
|
|
|
NM_000138.5(FBN1):c.6997+8C>T
|
|
|
NM_000138.5(FBN1):c.6998-17T>C
|
|
|
NM_000138.5(FBN1):c.6998-22_6998-5del
|
|
|
NM_000138.5(FBN1):c.6998-40del
|
rs193922229
|
|
NM_000138.5(FBN1):c.69T>C (p.His23=)
|
rs2140787712
|
|
NM_000138.5(FBN1):c.7003C>A (p.Arg2335=)
|
|
|
NM_000138.5(FBN1):c.7014C>T (p.Tyr2338=)
|
rs1555394582
|
|
NM_000138.5(FBN1):c.702C>T (p.Gly234=)
|
|
|
NM_000138.5(FBN1):c.7032A>G (p.Leu2344=)
|
rs2141229116
|
|
NM_000138.5(FBN1):c.7048A>G (p.Ile2350Val)
|
rs794728263
|
|
NM_000138.5(FBN1):c.7050C>T (p.Ile2350=)
|
rs772287755
|
|
NM_000138.5(FBN1):c.7051G>C (p.Gly2351Arg)
|
|
|
NM_000138.5(FBN1):c.7064G>A (p.Arg2355Lys)
|
rs376372763
|
|
NM_000138.5(FBN1):c.7074C>T (p.Val2358=)
|
|
|
NM_000138.5(FBN1):c.7149T>A (p.Thr2383=)
|
|
|
NM_000138.5(FBN1):c.7149T>G (p.Thr2383=)
|
|
|
NM_000138.5(FBN1):c.7175A>G (p.His2392Arg)
|
|
|
NM_000138.5(FBN1):c.7176T>C (p.His2392=)
|
|
|
NM_000138.5(FBN1):c.7201G>T (p.Ala2401Ser)
|
rs771260695
|
|
NM_000138.5(FBN1):c.7204+15G>A
|
|
|
NM_000138.5(FBN1):c.7204+20A>G
|
|
|
NM_000138.5(FBN1):c.7205-10T>A
|
|
|
NM_000138.5(FBN1):c.7205-18A>G
|
rs1555394451
|
|
NM_000138.5(FBN1):c.7205-18A>T
|
|
|
NM_000138.5(FBN1):c.7212T>C (p.Asp2404=)
|
rs2141227085
|
|
NM_000138.5(FBN1):c.7227T>A (p.Ile2409=)
|
|
|
NM_000138.5(FBN1):c.7236T>C (p.Val2412=)
|
rs1306021418
|
|
NM_000138.5(FBN1):c.7239C>T (p.Cys2413=)
|
rs2042975041
|
|
NM_000138.5(FBN1):c.723G>A (p.Thr241=)
|
rs757264206
|
|
NM_000138.5(FBN1):c.7242A>C (p.Arg2414=)
|
|
|
NM_000138.5(FBN1):c.726A>T (p.Gly242=)
|
|
|
NM_000138.5(FBN1):c.7275T>C (p.Tyr2425=)
|
|
|
NM_000138.5(FBN1):c.7305A>G (p.Pro2435=)
|
rs2042974267
|
|
NM_000138.5(FBN1):c.7309A>G (p.Ile2437Val)
|
|
|
NM_000138.5(FBN1):c.7317G>A (p.Gly2439=)
|
rs766871786
|
|
NM_000138.5(FBN1):c.7327G>A (p.Val2443Ile)
|
|
|
NM_000138.5(FBN1):c.7330+11A>G
|
|
|
NM_000138.5(FBN1):c.7330+17G>A
|
|
|
NM_000138.5(FBN1):c.7331-16A>G
|
|
|
NM_000138.5(FBN1):c.7331-17T>C
|
rs2141226524
|
|
NM_000138.5(FBN1):c.7335G>A (p.Leu2445=)
|
|
|
NM_000138.5(FBN1):c.7341G>A (p.Glu2447=)
|
rs1437889689
|
|
NM_000138.5(FBN1):c.736+17G>A
|
rs540588651
|
|
NM_000138.5(FBN1):c.737-17C>G
|
|
|
NM_000138.5(FBN1):c.737-19G>C
|
|
|
NM_000138.5(FBN1):c.737-19_737-16del
|
rs748812494
|
|
NM_000138.5(FBN1):c.737-23_737-20del
|
|
|
NM_000138.5(FBN1):c.7407A>G (p.Ser2469=)
|
rs193922232
|
|
NM_000138.5(FBN1):c.7428G>A (p.Leu2476=)
|
rs1229985371
|
|
NM_000138.5(FBN1):c.7453+10A>C
|
|
|
NM_000138.5(FBN1):c.7453+15A>G
|
|
|
NM_000138.5(FBN1):c.7453+16C>A
|
|
|
NM_000138.5(FBN1):c.7454-10T>C
|
|
|
NM_000138.5(FBN1):c.7454-13C>G
|
|
|
NM_000138.5(FBN1):c.7454-17C>T
|
|
|
NM_000138.5(FBN1):c.7454-4G>T
|
rs1365010331
|
|
NM_000138.5(FBN1):c.7464G>A (p.Glu2488=)
|
rs1597513869
|
|
NM_000138.5(FBN1):c.7476G>A (p.Lys2492=)
|
rs2141222576
|
|
NM_000138.5(FBN1):c.7503T>G (p.Val2501=)
|
|
|
NM_000138.5(FBN1):c.750C>T (p.Cys250=)
|
|
|
NM_000138.5(FBN1):c.7515C>T (p.Gly2505=)
|
rs374570475
|
|
NM_000138.5(FBN1):c.7524A>T (p.Thr2508=)
|
rs201992942
|
|
NM_000138.5(FBN1):c.7530A>G (p.Lys2510=)
|
rs754992689
|
|
NM_000138.5(FBN1):c.7570+11G>C
|
|
|
NM_000138.5(FBN1):c.7570+20A>G
|
|
|
NM_000138.5(FBN1):c.7571-5C>G
|
|
|
NM_000138.5(FBN1):c.7578T>C (p.Asn2526=)
|
|
|
NM_000138.5(FBN1):c.7581A>G (p.Glu2527=)
|
rs2141221997
|
|
NM_000138.5(FBN1):c.7608G>A (p.Gly2536=)
|
|
|
NM_000138.5(FBN1):c.7665A>G (p.Gly2555=)
|
rs1597513298
|
|
NM_000138.5(FBN1):c.7668C>T (p.Phe2556=)
|
rs2141221791
|
|
NM_000138.5(FBN1):c.7699+15C>T
|
rs1280521883
|
|
NM_000138.5(FBN1):c.7699+18C>T
|
rs753819758
|
|
NM_000138.5(FBN1):c.7699+20G>A
|
|
|
NM_000138.5(FBN1):c.7700-4T>G
|
|
|
NM_000138.5(FBN1):c.7700-7T>C
|
|
|
NM_000138.5(FBN1):c.7700-9C>G
|
rs772261791
|
|
NM_000138.5(FBN1):c.7700-9C>T
|
rs772261791
|
|
NM_000138.5(FBN1):c.7704G>T (p.Val2568=)
|
|
|
NM_000138.5(FBN1):c.7710G>A (p.Glu2570=)
|
rs748055037
|
|
NM_000138.5(FBN1):c.7728C>G (p.Arg2576=)
|
|
|
NM_000138.5(FBN1):c.7728C>T (p.Arg2576=)
|
rs751226629
|
|
NM_000138.5(FBN1):c.7779C>G (p.Pro2593=)
|
|
|
NM_000138.5(FBN1):c.7788C>T (p.Tyr2596=)
|
rs1555394142
|
|
NM_000138.5(FBN1):c.7791C>G (p.Leu2597=)
|
|
|
NM_000138.5(FBN1):c.7800C>T (p.Tyr2600=)
|
rs1404133653
|
|
NM_000138.5(FBN1):c.7820-11T>C
|
|
|
NM_000138.5(FBN1):c.7820-17T>A
|
|
|
NM_000138.5(FBN1):c.7827C>T (p.Asn2609=)
|
|
|
NM_000138.5(FBN1):c.7840G>A (p.Ala2614Thr)
|
rs1280320763
|
|
NM_000138.5(FBN1):c.7840G>C (p.Ala2614Pro)
|
rs1280320763
|
|
NM_000138.5(FBN1):c.7842T>A (p.Ala2614=)
|
rs764496589
|
|
NM_000138.5(FBN1):c.7851C>T (p.Cys2617=)
|
|
|
NM_000138.5(FBN1):c.7863C>T (p.Ser2621=)
|
rs1342441428
|
|
NM_000138.5(FBN1):c.786C>T (p.Cys262=)
|
rs1597591684
|
|
NM_000138.5(FBN1):c.789T>C (p.Ile263=)
|
rs2141353743
|
|
NM_000138.5(FBN1):c.7905C>T (p.Ala2635=)
|
|
|
NM_000138.5(FBN1):c.7932A>T (p.Gly2644=)
|
rs1597509710
|
|
NM_000138.5(FBN1):c.7962T>C (p.Ser2654=)
|
|
|
NM_000138.5(FBN1):c.7970C>T (p.Ala2657Val)
|
|
|
NM_000138.5(FBN1):c.8034C>T (p.Tyr2678=)
|
rs1597509559
|
|
NM_000138.5(FBN1):c.8037C>T (p.Phe2679=)
|
|
|
NM_000138.5(FBN1):c.8051+10G>T
|
rs1007432990
|
|
NM_000138.5(FBN1):c.8051+18T>C
|
|
|
NM_000138.5(FBN1):c.8052-10T>G
|
|
|
NM_000138.5(FBN1):c.8052-13C>T
|
|
|
NM_000138.5(FBN1):c.8052-14C>A
|
|
|
NM_000138.5(FBN1):c.8052-5T>C
|
|
|
NM_000138.5(FBN1):c.8073C>T (p.Gly2691=)
|
|
|
NM_000138.5(FBN1):c.8081G>A (p.Arg2694Gln)
|
rs371375126
|
|
NM_000138.5(FBN1):c.8082A>C (p.Arg2694=)
|
rs1597507799
|
|
NM_000138.5(FBN1):c.8089C>A (p.Pro2697Thr)
|
|
|
NM_000138.5(FBN1):c.8098C>T (p.Pro2700Ser)
|
|
|
NM_000138.5(FBN1):c.8103C>T (p.Val2701=)
|
rs1340105891
|
|
NM_000138.5(FBN1):c.810G>A (p.Glu270=)
|
|
|
NM_000138.5(FBN1):c.8121C>T (p.Asp2707=)
|
rs1566889147
|
|
NM_000138.5(FBN1):c.8136A>G (p.Pro2712=)
|
|
|
NM_000138.5(FBN1):c.8139G>A (p.Glu2713=)
|
rs2141211689
|
|
NM_000138.5(FBN1):c.8140G>T (p.Ala2714Ser)
|
|
|
NM_000138.5(FBN1):c.8148C>T (p.Tyr2716=)
|
rs112642323
|
|
NM_000138.5(FBN1):c.8157G>A (p.Lys2719=)
|
rs2042872810
|
|
NM_000138.5(FBN1):c.816A>G (p.Lys272=)
|
|
|
NM_000138.5(FBN1):c.8181C>T (p.Gly2727=)
|
|
|
NM_000138.5(FBN1):c.8185A>C (p.Lys2729Gln)
|
rs370096856
|
|
NM_000138.5(FBN1):c.819C>T (p.Cys273=)
|
|
|
NM_000138.5(FBN1):c.8222T>C (p.Ile2741Thr)
|
|
|
NM_000138.5(FBN1):c.8226+12G>A
|
rs2141211477
|
|
NM_000138.5(FBN1):c.8227-12G>A
|
|
|
NM_000138.5(FBN1):c.8227-13T>C
|
|
|
NM_000138.5(FBN1):c.8227-5dup
|
|
|
NM_000138.5(FBN1):c.8227-6T>C
|
rs1198254608
|
|
NM_000138.5(FBN1):c.8232G>C (p.Gln2744His)
|
rs376119827
|
|
NM_000138.5(FBN1):c.8235T>C (p.Ser2745=)
|
|
|
NM_000138.5(FBN1):c.8247C>T (p.Ala2749=)
|
rs1555393567
|
|
NM_000138.5(FBN1):c.8256T>C (p.Ser2752=)
|
rs2141210112
|
|
NM_000138.5(FBN1):c.8277G>A (p.Glu2759=)
|
rs1597506888
|
|
NM_000138.5(FBN1):c.8356A>G (p.Thr2786Ala)
|
rs781352764
|
|
NM_000138.5(FBN1):c.8385C>A (p.Ile2795=)
|
rs138574576
|
|
NM_000138.5(FBN1):c.846G>A (p.Val282=)
|
rs2043994063
|
|
NM_000138.5(FBN1):c.8496T>C (p.Ser2832=)
|
rs1216871823
|
|
NM_000138.5(FBN1):c.849A>G (p.Ser283=)
|
rs2141353586
|
|
NM_000138.5(FBN1):c.8500A>G (p.Thr2834Ala)
|
rs1284038548
|
|
NM_000138.5(FBN1):c.8523A>T (p.Glu2841Asp)
|
|
|
NM_000138.5(FBN1):c.8582A>T (p.Asn2861Ile)
|
rs747213800
|
|
NM_000138.5(FBN1):c.8586G>A (p.Leu2862=)
|
rs2042856515
|
|
NM_000138.5(FBN1):c.8601G>A (p.Gln2867=)
|
rs2141209442
|
|
NM_000138.5(FBN1):c.862+13A>C
|
rs2043993776
|
|
NM_000138.5(FBN1):c.862+14T>G
|
|
|
NM_000138.5(FBN1):c.863-10del
|
rs748672558
|
|
NM_000138.5(FBN1):c.863-7A>G
|
rs771131700
|
|
NM_000138.5(FBN1):c.90G>T (p.Glu30Asp)
|
rs778831047
|
|
NM_000138.5(FBN1):c.936T>C (p.Phe312=)
|
|
|
NM_000138.5(FBN1):c.948C>A (p.Pro316=)
|
|
|
NM_000138.5(FBN1):c.963C>G (p.Thr321=)
|
rs767914958
|
|
NM_000138.5(FBN1):c.972T>C (p.Asp324=)
|
|
|
NM_000138.5(FBN1):c.988+13A>G
|
|
|
NM_000138.5(FBN1):c.988+14C>A
|
|
|
NM_000138.5(FBN1):c.988+16A>G
|
|
|
NM_000138.5(FBN1):c.988+16A>T
|
|
|
NM_000138.5(FBN1):c.988+16_988+26del
|
|
|
NM_000138.5(FBN1):c.988+20G>T
|
rs375760654
|
|
NM_000138.5(FBN1):c.989-10T>A
|
|
|
NM_000138.5(FBN1):c.989-20A>G
|
|
|
NM_000138.5(FBN1):c.989-8G>A
|
|
|
NM_001032283.3(TMPO):c.105C>T (p.Asp35=)
|
|
|
NM_001032283.3(TMPO):c.108G>C (p.Val36=)
|
|
|
NM_001032283.3(TMPO):c.111C>T (p.Tyr37=)
|
rs1299226116
|
|
NM_001032283.3(TMPO):c.114C>A (p.Val38=)
|
|
|
NM_001032283.3(TMPO):c.150G>A (p.Arg50=)
|
|
|
NM_001032283.3(TMPO):c.186C>T (p.Pro62=)
|
|
|
NM_001032283.3(TMPO):c.231C>T (p.Leu77=)
|
|
|
NM_001032283.3(TMPO):c.234C>G (p.Gly78=)
|
rs753917997
|
|
NM_001032283.3(TMPO):c.234C>T (p.Gly78=)
|
rs753917997
|
|
NM_001032283.3(TMPO):c.267A>T (p.Ala89=)
|
rs1055056946
|
|
NM_001032283.3(TMPO):c.273C>A (p.Val91=)
|
|
|
NM_001032283.3(TMPO):c.279+14dup
|
rs749108666
|
|
NM_001032283.3(TMPO):c.279+16C>T
|
rs1010758415
|
|
NM_001032283.3(TMPO):c.279+17G>A
|
|
|
NM_001032283.3(TMPO):c.280-13A>G
|
|
|
NM_001032283.3(TMPO):c.280-13A>T
|
|
|
NM_001032283.3(TMPO):c.280-18A>G
|
|
|
NM_001032283.3(TMPO):c.280-4A>G
|
|
|
NM_001032283.3(TMPO):c.306C>T (p.Pro102=)
|
|
|
NM_001032283.3(TMPO):c.357T>G (p.Asp119Glu)
|
rs765524061
|
|
NM_001032283.3(TMPO):c.36A>G (p.Thr12=)
|
|
|
NM_001032283.3(TMPO):c.399T>C (p.Pro133=)
|
|
|
NM_001032283.3(TMPO):c.407-4C>T
|
|
|
NM_001032283.3(TMPO):c.423A>G (p.Leu141=)
|
|
|
NM_001032283.3(TMPO):c.429G>A (p.Glu143=)
|
|
|
NM_001032283.3(TMPO):c.441G>A (p.Leu147=)
|
rs2121195450
|
|
NM_001032283.3(TMPO):c.462A>G (p.Thr154=)
|
rs2121195654
|
|
NM_001032283.3(TMPO):c.471A>G (p.Arg157=)
|
|
|
NM_001032283.3(TMPO):c.48G>A (p.Leu16=)
|
rs2121092959
|
|
NM_001032283.3(TMPO):c.519G>A (p.Arg173=)
|
|
|
NM_001032283.3(TMPO):c.528A>G (p.Gly176=)
|
|
|
NM_001032283.3(TMPO):c.565+1007A>G
|
|
|
NM_001032283.3(TMPO):c.565+1106C>A
|
rs757659026
|
|
NM_001032283.3(TMPO):c.565+1127C>G
|
rs777779709
|
|
NM_001032283.3(TMPO):c.565+1127C>T
|
rs777779709
|
|
NM_001032283.3(TMPO):c.565+1154T>C
|
|
|
NM_001032283.3(TMPO):c.565+1199C>T
|
rs2121203040
|
|
NM_001032283.3(TMPO):c.565+1220G>A
|
|
|
NM_001032283.3(TMPO):c.565+1319C>T
|
rs780889526
|
|
NM_001032283.3(TMPO):c.565+1334C>T
|
|
|
NM_001032283.3(TMPO):c.565+1382C>T
|
rs2121204053
|
|
NM_001032283.3(TMPO):c.565+1448G>A
|
rs1877328100
|
|
NM_001032283.3(TMPO):c.565+1532G>T
|
|
|
NM_001032283.3(TMPO):c.565+1613C>T
|
|
|
NM_001032283.3(TMPO):c.565+1637A>G
|
|
|
NM_001032283.3(TMPO):c.565+1688G>T
|
rs577869374
|
|
NM_001032283.3(TMPO):c.565+1781C>T
|
|
|
NM_001032283.3(TMPO):c.565+1808T>C
|
|
|
NM_001032283.3(TMPO):c.565+1814C>G
|
|
|
NM_001032283.3(TMPO):c.565+1817T>C
|
|
|
NM_001032283.3(TMPO):c.565+1826C>T
|
|
|
NM_001032283.3(TMPO):c.565+1880C>A
|
rs1351997207
|
|
NM_001032283.3(TMPO):c.565+1956C>T
|
|
|
NM_001032283.3(TMPO):c.565+1958G>A
|
|
|
NM_001032283.3(TMPO):c.565+1964A>C
|
|
|
NM_001032283.3(TMPO):c.565+19T>C
|
|
|
NM_001032283.3(TMPO):c.565+2099T>C
|
|
|
NM_001032283.3(TMPO):c.565+2135A>G
|
rs1284474609
|
|
NM_001032283.3(TMPO):c.565+2180C>T
|
|
|
NM_001032283.3(TMPO):c.565+2192G>A
|
|
|
NM_001032283.3(TMPO):c.565+2210T>C
|
|
|
NM_001032283.3(TMPO):c.565+2219T>G
|
|
|
NM_001032283.3(TMPO):c.565+2222A>C
|
|
|
NM_001032283.3(TMPO):c.565+2261G>A
|
rs373227285
|
|
NM_001032283.3(TMPO):c.565+2261G>C
|
|
|
NM_001032283.3(TMPO):c.565+2261G>T
|
rs373227285
|
|
NM_001032283.3(TMPO):c.565+2271C>T
|
|
|
NM_001032283.3(TMPO):c.565+2297A>G
|
|
|
NM_001032283.3(TMPO):c.565+2300T>C
|
|
|
NM_001032283.3(TMPO):c.565+2315A>G
|
|
|
NM_001032283.3(TMPO):c.565+2339C>G
|
rs749772850
|
|
NM_001032283.3(TMPO):c.565+2357C>T
|
|
|
NM_001032283.3(TMPO):c.565+2402T>C
|
rs1592947011
|
|
NM_001032283.3(TMPO):c.565+2421C>T
|
rs2121211142
|
|
NM_001032283.3(TMPO):c.565+2426T>C
|
rs1877426910
|
|
NM_001032283.3(TMPO):c.565+9T>G
|
|
|
NM_001032283.3(TMPO):c.63C>A (p.Val21=)
|
|
|
NM_001032283.3(TMPO):c.66C>T (p.Ala22=)
|
rs1875748424
|
|
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.1053C>T (p.Thr351=)
|
rs1554067080
|
|
NM_001999.4(FBN2):c.1078+10G>A
|
|
|
NM_001999.4(FBN2):c.1078+9C>G
|
rs371692018
|
|
NM_001999.4(FBN2):c.1079-9C>T
|
|
|
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.115C>A (p.Arg39=)
|
rs763202121
|
|
NM_001999.4(FBN2):c.117G>T (p.Arg39=)
|
|
|
NM_001999.4(FBN2):c.120C>T (p.Pro40=)
|
|
|
NM_001999.4(FBN2):c.1231+12G>A
|
|
|
NM_001999.4(FBN2):c.1231+15G>A
|
|
|
NM_001999.4(FBN2):c.1231+19G>A
|
|
|
NM_001999.4(FBN2):c.1232-6T>C
|
rs1581260490
|
|
NM_001999.4(FBN2):c.1232-8T>C
|
|
|
NM_001999.4(FBN2):c.1236A>G (p.Glu412=)
|
|
|
NM_001999.4(FBN2):c.1241G>A (p.Arg414His)
|
|
|
NM_001999.4(FBN2):c.1275A>T (p.Gly425=)
|
|
|
NM_001999.4(FBN2):c.1281A>G (p.Pro427=)
|
|
|
NM_001999.4(FBN2):c.1295C>A (p.Ser432Tyr)
|
|
|
NM_001999.4(FBN2):c.132G>A (p.Pro44=)
|
rs199702573
|
|
NM_001999.4(FBN2):c.132G>T (p.Pro44=)
|
|
|
NM_001999.4(FBN2):c.135A>G (p.Gln45=)
|
rs1182394348
|
|
NM_001999.4(FBN2):c.1380C>T (p.Pro460=)
|
|
|
NM_001999.4(FBN2):c.1386T>C (p.Pro462=)
|
rs778468050
|
|
NM_001999.4(FBN2):c.1398C>T (p.Gly466=)
|
rs1554066010
|
|
NM_001999.4(FBN2):c.1411G>C (p.Val471Leu)
|
rs138046782
|
|
NM_001999.4(FBN2):c.1437G>A (p.Gly479=)
|
|
|
NM_001999.4(FBN2):c.1438G>A (p.Gly480Arg)
|
|
|
NM_001999.4(FBN2):c.1443G>A (p.Gln481=)
|
rs923812426
|
|
NM_001999.4(FBN2):c.1452C>T (p.Ile484=)
|
|
|
NM_001999.4(FBN2):c.1458T>A (p.Thr486=)
|
|
|
NM_001999.4(FBN2):c.1465+17C>T
|
|
|
NM_001999.4(FBN2):c.1466-12A>G
|
|
|
NM_001999.4(FBN2):c.1466-17G>T
|
rs2126977471
|
|
NM_001999.4(FBN2):c.1466-19G>T
|
|
|
NM_001999.4(FBN2):c.1466-5del
|
|
|
NM_001999.4(FBN2):c.1473G>C (p.Leu491=)
|
|
|
NM_001999.4(FBN2):c.147C>A (p.Ser49=)
|
|
|
NM_001999.4(FBN2):c.147C>T (p.Ser49=)
|
rs1194404343
|
|
NM_001999.4(FBN2):c.1512T>G (p.Leu504=)
|
|
|
NM_001999.4(FBN2):c.1526G>A (p.Arg509His)
|
rs199587570
|
|
NM_001999.4(FBN2):c.1537A>G (p.Thr513Ala)
|
|
|
NM_001999.4(FBN2):c.1543T>A (p.Ser515Thr)
|
rs528255772
|
|
NM_001999.4(FBN2):c.1589A>G (p.Asn530Ser)
|
|
|
NM_001999.4(FBN2):c.1603+15C>G
|
|
|
NM_001999.4(FBN2):c.1603+19A>G
|
|
|
NM_001999.4(FBN2):c.1603+9G>C
|
rs774984154
|
|
NM_001999.4(FBN2):c.1604-7C>T
|
rs2126960298
|
|
NM_001999.4(FBN2):c.1604-8G>C
|
|
|
NM_001999.4(FBN2):c.1614A>G (p.Glu538=)
|
|
|
NM_001999.4(FBN2):c.162T>G (p.Ser54=)
|
|
|
NM_001999.4(FBN2):c.1644T>C (p.Asp548=)
|
|
|
NM_001999.4(FBN2):c.1662T>C (p.Gly554=)
|
rs1400948280
|
|
NM_001999.4(FBN2):c.1686T>G (p.Ala562=)
|
rs1581251758
|
|
NM_001999.4(FBN2):c.1723+12T>G
|
|
|
NM_001999.4(FBN2):c.1724-14C>A
|
|
|
NM_001999.4(FBN2):c.1759A>G (p.Lys587Glu)
|
|
|
NM_001999.4(FBN2):c.175C>T (p.Leu59=)
|
|
|
NM_001999.4(FBN2):c.1773C>T (p.Cys591=)
|
rs763629454
|
|
NM_001999.4(FBN2):c.1797G>A (p.Gln599=)
|
|
|
NM_001999.4(FBN2):c.1849+20C>T
|
|
|
NM_001999.4(FBN2):c.189T>C (p.Tyr63=)
|
rs1435288732
|
|
NM_001999.4(FBN2):c.1917C>T (p.Phe639=)
|
|
|
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.1990A>G (p.Thr664Ala)
|
rs746408145
|
|
NM_001999.4(FBN2):c.1995A>G (p.Pro665=)
|
|
|
NM_001999.4(FBN2):c.2014C>T (p.His672Tyr)
|
|
|
NM_001999.4(FBN2):c.2042G>T (p.Arg681Leu)
|
rs548605398
|
|
NM_001999.4(FBN2):c.2049C>T (p.Asp683=)
|
|
|
NM_001999.4(FBN2):c.2053C>A (p.Pro685Thr)
|
rs141291125
|
|
NM_001999.4(FBN2):c.2060G>A (p.Gly687Asp)
|
|
|
NM_001999.4(FBN2):c.2095+8A>T
|
|
|
NM_001999.4(FBN2):c.2103C>T (p.His701=)
|
rs148920354
|
|
NM_001999.4(FBN2):c.2150G>A (p.Arg717His)
|
|
|
NM_001999.4(FBN2):c.2161G>A (p.Gly721Ser)
|
rs149733159
|
|
NM_001999.4(FBN2):c.2161G>C (p.Gly721Arg)
|
rs149733159
|
|
NM_001999.4(FBN2):c.216C>T (p.Ser72=)
|
|
|
NM_001999.4(FBN2):c.2187C>T (p.Cys729=)
|
|
|
NM_001999.4(FBN2):c.21G>A (p.Leu7=)
|
rs1002853093
|
|
NM_001999.4(FBN2):c.2236G>A (p.Ala746Thr)
|
|
|
NM_001999.4(FBN2):c.2248+11G>C
|
|
|
NM_001999.4(FBN2):c.2249-15C>T
|
|
|
NM_001999.4(FBN2):c.2249-18T>C
|
rs996601598
|
|
NM_001999.4(FBN2):c.2302+16C>A
|
|
|
NM_001999.4(FBN2):c.2302+9A>G
|
|
|
NM_001999.4(FBN2):c.2303-18T>G
|
|
|
NM_001999.4(FBN2):c.2340C>T (p.Ala780=)
|
rs1060504935
|
|
NM_001999.4(FBN2):c.2359T>A (p.Leu787Ile)
|
rs756348656
|
|
NM_001999.4(FBN2):c.2367T>C (p.Gly789=)
|
|
|
NM_001999.4(FBN2):c.2376T>C (p.Arg792=)
|
|
|
NM_001999.4(FBN2):c.2428+12G>T
|
|
|
NM_001999.4(FBN2):c.2428+18T>C
|
rs775383249
|
|
NM_001999.4(FBN2):c.2429-17T>G
|
|
|
NM_001999.4(FBN2):c.2433T>A (p.Ile811=)
|
|
|
NM_001999.4(FBN2):c.2436T>C (p.Asp812=)
|
|
|
NM_001999.4(FBN2):c.2439A>G (p.Glu813=)
|
rs1581241374
|
|
NM_001999.4(FBN2):c.2457G>A (p.Leu819=)
|
rs370465689
|
|
NM_001999.4(FBN2):c.2466T>C (p.Asp822=)
|
|
|
NM_001999.4(FBN2):c.2473T>C (p.Leu825=)
|
|
|
NM_001999.4(FBN2):c.2486C>T (p.Thr829Met)
|
|
|
NM_001999.4(FBN2):c.2487G>A (p.Thr829=)
|
rs779455710
|
|
NM_001999.4(FBN2):c.251G>C (p.Arg84Pro)
|
|
|
NM_001999.4(FBN2):c.254+10C>G
|
|
|
NM_001999.4(FBN2):c.254+14C>G
|
|
|
NM_001999.4(FBN2):c.254+20C>G
|
|
|
NM_001999.4(FBN2):c.2555-20C>G
|
|
|
NM_001999.4(FBN2):c.2556T>C (p.Asp852=)
|
rs2126931519
|
|
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.2621A>G (p.Asn874Ser)
|
|
|
NM_001999.4(FBN2):c.2631T>C (p.Cys877=)
|
|
|
NM_001999.4(FBN2):c.2633C>T (p.Ser878Leu)
|
|
|
NM_001999.4(FBN2):c.2634G>T (p.Ser878=)
|
rs143905167
|
|
NM_001999.4(FBN2):c.2646A>G (p.Lys882=)
|
rs1035674949
|
|
NM_001999.4(FBN2):c.264G>T (p.Val88=)
|
rs1167442198
|
|
NM_001999.4(FBN2):c.2674+9del
|
rs2126931306
|
|
NM_001999.4(FBN2):c.2675-20C>T
|
|
|
NM_001999.4(FBN2):c.2679C>G (p.Ser893Arg)
|
rs778473524
|
|
NM_001999.4(FBN2):c.2694T>C (p.Cys898=)
|
|
|
NM_001999.4(FBN2):c.2736T>C (p.Asn912=)
|
rs760088310
|
|
NM_001999.4(FBN2):c.2740G>T (p.Ala914Ser)
|
rs370312107
|
|
NM_001999.4(FBN2):c.2787G>A (p.Gly929=)
|
|
|
NM_001999.4(FBN2):c.2812+14T>C
|
|
|
NM_001999.4(FBN2):c.2812+9C>A
|
rs751293821
|
|
NM_001999.4(FBN2):c.282C>T (p.His94=)
|
|
|
NM_001999.4(FBN2):c.2839A>C (p.Arg947=)
|
rs752949752
|
|
NM_001999.4(FBN2):c.2856G>A (p.Thr952=)
|
rs556038110
|
|
NM_001999.4(FBN2):c.2863+9A>G
|
|
|
NM_001999.4(FBN2):c.2864-15T>C
|
|
|
NM_001999.4(FBN2):c.2864-19T>G
|
rs2126919979
|
|
NM_001999.4(FBN2):c.287_289del (p.Tyr96del)
|
rs555068280
|
|
NM_001999.4(FBN2):c.2886C>T (p.Phe962=)
|
rs972172170
|
|
NM_001999.4(FBN2):c.2909G>A (p.Arg970His)
|
rs368402648
|
|
NM_001999.4(FBN2):c.2925G>A (p.Lys975=)
|
|
|
NM_001999.4(FBN2):c.2931T>C (p.Ser977=)
|
|
|
NM_001999.4(FBN2):c.2961G>A (p.Thr987=)
|
rs760390469
|
|
NM_001999.4(FBN2):c.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.2997C>T (p.Arg999=)
|
rs1751155993
|
|
NM_001999.4(FBN2):c.3012C>T (p.Tyr1004=)
|
|
|
NM_001999.4(FBN2):c.3018G>A (p.Lys1006=)
|
|
|
NM_001999.4(FBN2):c.3045C>G (p.Pro1015=)
|
rs371640952
|
|
NM_001999.4(FBN2):c.3057G>T (p.Lys1019Asn)
|
rs863223561
|
|
NM_001999.4(FBN2):c.3062G>A (p.Arg1021His)
|
rs139620380
|
|
NM_001999.4(FBN2):c.3093G>C (p.Ala1031=)
|
rs528529593
|
|
NM_001999.4(FBN2):c.309G>T (p.Thr103=)
|
|
|
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.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.3198T>G (p.Thr1066=)
|
rs2126913781
|
|
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.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+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.3219C>T (p.Asp1073=)
|
|
|
NM_001999.4(FBN2):c.3222C>A (p.Ile1074=)
|
rs1345516642
|
|
NM_001999.4(FBN2):c.3246G>A (p.Gly1082=)
|
|
|
NM_001999.4(FBN2):c.3285C>T (p.Ser1095=)
|
|
|
NM_001999.4(FBN2):c.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.3352G>A (p.Glu1118Lys)
|
rs1348701377
|
|
NM_001999.4(FBN2):c.3367C>T (p.Pro1123Ser)
|
rs764719151
|
|
NM_001999.4(FBN2):c.337+12G>T
|
rs2112809114
|
|
NM_001999.4(FBN2):c.3372C>T (p.Asp1124=)
|
|
|
NM_001999.4(FBN2):c.338-18C>T
|
|
|
NM_001999.4(FBN2):c.338-4A>G
|
rs1756678272
|
|
NM_001999.4(FBN2):c.3384T>C (p.Ser1128=)
|
|
|
NM_001999.4(FBN2):c.3387A>G (p.Gly1129=)
|
|
|
NM_001999.4(FBN2):c.3390C>A (p.Ile1130=)
|
|
|
NM_001999.4(FBN2):c.3456G>A (p.Met1152Ile)
|
rs863223565
|
|
NM_001999.4(FBN2):c.3472+9C>T
|
rs372520452
|
|
NM_001999.4(FBN2):c.3473-15G>A
|
|
|
NM_001999.4(FBN2):c.3473-16C>T
|
|
|
NM_001999.4(FBN2):c.3474C>T (p.Asp1158=)
|
|
|
NM_001999.4(FBN2):c.3480C>A (p.Asp1160Glu)
|
|
|
NM_001999.4(FBN2):c.3480C>T (p.Asp1160=)
|
rs142323824
|
|
NM_001999.4(FBN2):c.3489A>C (p.Glu1163Asp)
|
|
|
NM_001999.4(FBN2):c.3501C>G (p.Leu1167=)
|
rs2126902161
|
|
NM_001999.4(FBN2):c.3570G>A (p.Glu1190=)
|
rs2126902008
|
|
NM_001999.4(FBN2):c.3599-13G>T
|
|
|
NM_001999.4(FBN2):c.360A>T (p.Gly120=)
|
|
|
NM_001999.4(FBN2):c.3626A>G (p.Asn1209Ser)
|
|
|
NM_001999.4(FBN2):c.3690A>T (p.Gly1230=)
|
rs774807410
|
|
NM_001999.4(FBN2):c.36C>T (p.Tyr12=)
|
rs1581380471
|
|
NM_001999.4(FBN2):c.3710G>A (p.Arg1237His)
|
rs142185964
|
|
NM_001999.4(FBN2):c.3711C>T (p.Arg1237=)
|
|
|
NM_001999.4(FBN2):c.3725-18G>T
|
|
|
NM_001999.4(FBN2):c.3783G>C (p.Glu1261Asp)
|
|
|
NM_001999.4(FBN2):c.382A>G (p.Asn128Asp)
|
|
|
NM_001999.4(FBN2):c.3848-10G>A
|
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.3885T>C (p.Asp1295=)
|
|
|
NM_001999.4(FBN2):c.3888C>T (p.Gly1296=)
|
|
|
NM_001999.4(FBN2):c.3900C>A (p.Thr1300=)
|
|
|
NM_001999.4(FBN2):c.3900C>T (p.Thr1300=)
|
rs754193286
|
|
NM_001999.4(FBN2):c.3909T>C (p.Pro1303=)
|
|
|
NM_001999.4(FBN2):c.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.4002T>C (p.Asn1334=)
|
rs759408247
|
|
NM_001999.4(FBN2):c.4017G>A (p.Gly1339=)
|
|
|
NM_001999.4(FBN2):c.4032A>G (p.Thr1344=)
|
|
|
NM_001999.4(FBN2):c.4038A>T (p.Gly1346=)
|
|
|
NM_001999.4(FBN2):c.4044C>T (p.Phe1348=)
|
|
|
NM_001999.4(FBN2):c.4089A>C (p.Thr1363=)
|
|
|
NM_001999.4(FBN2):c.4099+12G>A
|
|
|
NM_001999.4(FBN2):c.4099+7T>G
|
rs1750789192
|
|
NM_001999.4(FBN2):c.4100-11T>C
|
|
|
NM_001999.4(FBN2):c.4100-19A>G
|
|
|
NM_001999.4(FBN2):c.4100-19A>T
|
rs200803675
|
|
NM_001999.4(FBN2):c.4100-6T>C
|
|
|
NM_001999.4(FBN2):c.4100-8T>C
|
|
|
NM_001999.4(FBN2):c.411A>G (p.Ile137Met)
|
|
|
NM_001999.4(FBN2):c.4147T>C (p.Ser1383Pro)
|
|
|
NM_001999.4(FBN2):c.4149A>G (p.Ser1383=)
|
|
|
NM_001999.4(FBN2):c.4203A>G (p.Gly1401=)
|
|
|
NM_001999.4(FBN2):c.4228G>A (p.Asp1410Asn)
|
rs1478574969
|
|
NM_001999.4(FBN2):c.4230C>T (p.Asp1410=)
|
rs138289440
|
|
NM_001999.4(FBN2):c.4254G>A (p.Gln1418=)
|
|
|
NM_001999.4(FBN2):c.4276G>A (p.Val1426Ile)
|
|
|
NM_001999.4(FBN2):c.4302T>C (p.Cys1434=)
|
rs2126889007
|
|
NM_001999.4(FBN2):c.4323T>C (p.Thr1441=)
|
|
|
NM_001999.4(FBN2):c.4345+19G>A
|
rs886038503
|
|
NM_001999.4(FBN2):c.4346-16T>A
|
|
|
NM_001999.4(FBN2):c.436+13C>T
|
|
|
NM_001999.4(FBN2):c.437-12T>C
|
|
|
NM_001999.4(FBN2):c.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.4471+9C>A
|
|
|
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.4472-7T>C
|
|
|
NM_001999.4(FBN2):c.4545C>T (p.Cys1515=)
|
rs1348263135
|
|
NM_001999.4(FBN2):c.4563T>C (p.Tyr1521=)
|
rs1434367982
|
|
NM_001999.4(FBN2):c.4573A>G (p.Arg1525Gly)
|
|
|
NM_001999.4(FBN2):c.4584G>A (p.Gly1528=)
|
rs1554121089
|
|
NM_001999.4(FBN2):c.4590T>C (p.Cys1530=)
|
rs1581212624
|
|
NM_001999.4(FBN2):c.4595-4C>A
|
|
|
NM_001999.4(FBN2):c.4620A>C (p.Ile1540=)
|
|
|
NM_001999.4(FBN2):c.4659C>T (p.Arg1553=)
|
|
|
NM_001999.4(FBN2):c.4665G>A (p.Glu1555=)
|
|
|
NM_001999.4(FBN2):c.4674C>T (p.Cys1558=)
|
|
|
NM_001999.4(FBN2):c.4677A>G (p.Pro1559=)
|
rs1581212135
|
|
NM_001999.4(FBN2):c.4710T>C (p.Gly1570=)
|
|
|
NM_001999.4(FBN2):c.4718-6C>T
|
|
|
NM_001999.4(FBN2):c.471G>A (p.Gly157=)
|
|
|
NM_001999.4(FBN2):c.4757G>A (p.Arg1586Gln)
|
rs143195229
|
|
NM_001999.4(FBN2):c.4767G>T (p.Gly1589=)
|
rs1750089730
|
|
NM_001999.4(FBN2):c.4771C>G (p.Leu1591Val)
|
|
|
NM_001999.4(FBN2):c.4773G>A (p.Leu1591=)
|
rs753387547
|
|
NM_001999.4(FBN2):c.4815A>C (p.Ser1605=)
|
rs377657220
|
|
NM_001999.4(FBN2):c.4828C>T (p.Leu1610=)
|
|
|
NM_001999.4(FBN2):c.4863C>T (p.Cys1621=)
|
|
|
NM_001999.4(FBN2):c.4867C>T (p.Pro1623Ser)
|
rs139830237
|
|
NM_001999.4(FBN2):c.4879+12G>A
|
|
|
NM_001999.4(FBN2):c.4879+16A>G
|
rs2126847534
|
|
NM_001999.4(FBN2):c.4880-12A>G
|
rs376111927
|
|
NM_001999.4(FBN2):c.4880-14C>G
|
|
|
NM_001999.4(FBN2):c.4896G>A (p.Leu1632=)
|
|
|
NM_001999.4(FBN2):c.4938C>T (p.Ile1646=)
|
rs773597432
|
|
NM_001999.4(FBN2):c.4948+15T>C
|
|
|
NM_001999.4(FBN2):c.4949-12C>T
|
|
|
NM_001999.4(FBN2):c.4949-17T>C
|
rs2126846281
|
|
NM_001999.4(FBN2):c.4949-19A>C
|
|
|
NM_001999.4(FBN2):c.4949-6T>C
|
|
|
NM_001999.4(FBN2):c.4971A>G (p.Leu1657=)
|
|
|
NM_001999.4(FBN2):c.4980C>T (p.Leu1660=)
|
|
|
NM_001999.4(FBN2):c.4986G>A (p.Gln1662=)
|
rs1554120357
|
|
NM_001999.4(FBN2):c.5052C>T (p.Ser1684=)
|
|
|
NM_001999.4(FBN2):c.5068T>C (p.Cys1690Arg)
|
rs141401126
|
|
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.5118G>A (p.Gly1706=)
|
rs1284156837
|
|
NM_001999.4(FBN2):c.518C>T (p.Thr173Ile)
|
rs147157552
|
|
NM_001999.4(FBN2):c.5201-17dup
|
|
|
NM_001999.4(FBN2):c.5201-19T>G
|
|
|
NM_001999.4(FBN2):c.5201-20C>A
|
|
|
NM_001999.4(FBN2):c.5257T>C (p.Leu1753=)
|
|
|
NM_001999.4(FBN2):c.528A>G (p.Gly176=)
|
|
|
NM_001999.4(FBN2):c.5307C>A (p.Gly1769=)
|
rs755781072
|
|
NM_001999.4(FBN2):c.532+16T>G
|
|
|
NM_001999.4(FBN2):c.533-14A>G
|
|
|
NM_001999.4(FBN2):c.533-4G>A
|
|
|
NM_001999.4(FBN2):c.5337C>T (p.Cys1779=)
|
rs1307268596
|
|
NM_001999.4(FBN2):c.533C>T (p.Pro178Leu)
|
|
|
NM_001999.4(FBN2):c.5346A>G (p.Pro1782=)
|
rs2126842864
|
|
NM_001999.4(FBN2):c.5353+10C>A
|
rs113589974
|
|
NM_001999.4(FBN2):c.5353+15C>A
|
|
|
NM_001999.4(FBN2):c.5353+16G>C
|
|
|
NM_001999.4(FBN2):c.5354-4A>G
|
rs2126840686
|
|
NM_001999.4(FBN2):c.5392A>G (p.Thr1798Ala)
|
|
|
NM_001999.4(FBN2):c.5422+11C>T
|
|
|
NM_001999.4(FBN2):c.5422+14G>A
|
|
|
NM_001999.4(FBN2):c.5422+20G>A
|
|
|
NM_001999.4(FBN2):c.5423-18A>C
|
|
|
NM_001999.4(FBN2):c.5423-18A>G
|
|
|
NM_001999.4(FBN2):c.5472C>T (p.Cys1824=)
|
rs1385121154
|
|
NM_001999.4(FBN2):c.5511A>G (p.Thr1837=)
|
|
|
NM_001999.4(FBN2):c.5549-8T>C
|
|
|
NM_001999.4(FBN2):c.5550T>C (p.Asp1850=)
|
|
|
NM_001999.4(FBN2):c.5593G>T (p.Ala1865Ser)
|
rs200681872
|
|
NM_001999.4(FBN2):c.5595A>T (p.Ala1865=)
|
rs1749846586
|
|
NM_001999.4(FBN2):c.5623C>T (p.Arg1875Cys)
|
|
|
NM_001999.4(FBN2):c.5674+12G>A
|
|
|
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.5675-18del
|
|
|
NM_001999.4(FBN2):c.5700T>C (p.Pro1900=)
|
|
|
NM_001999.4(FBN2):c.5718C>T (p.Gly1906=)
|
|
|
NM_001999.4(FBN2):c.573C>A (p.Ile191=)
|
|
|
NM_001999.4(FBN2):c.5744A>T (p.Tyr1915Phe)
|
|
|
NM_001999.4(FBN2):c.5745C>T (p.Tyr1915=)
|
|
|
NM_001999.4(FBN2):c.5754C>A (p.Ile1918=)
|
rs1554119714
|
|
NM_001999.4(FBN2):c.5775T>C (p.Ala1925=)
|
|
|
NM_001999.4(FBN2):c.579C>G (p.Pro193=)
|
|
|
NM_001999.4(FBN2):c.5800+16G>A
|
|
|
NM_001999.4(FBN2):c.5800+20C>T
|
rs1554119695
|
|
NM_001999.4(FBN2):c.5800+9G>A
|
|
|
NM_001999.4(FBN2):c.5801-18G>T
|
|
|
NM_001999.4(FBN2):c.5801-5T>G
|
rs571282132
|
|
NM_001999.4(FBN2):c.5805T>C (p.Val1935=)
|
rs777941578
|
|
NM_001999.4(FBN2):c.5818C>T (p.Arg1940Trp)
|
rs755672868
|
|
NM_001999.4(FBN2):c.584G>A (p.Arg195His)
|
rs746890032
|
|
NM_001999.4(FBN2):c.5868C>T (p.Asn1956=)
|
|
|
NM_001999.4(FBN2):c.5871T>C (p.Cys1957=)
|
|
|
NM_001999.4(FBN2):c.5886G>C (p.Gly1962=)
|
rs747408641
|
|
NM_001999.4(FBN2):c.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.5917+10T>G
|
|
|
NM_001999.4(FBN2):c.5917+20C>T
|
|
|
NM_001999.4(FBN2):c.5918-13T>C
|
|
|
NM_001999.4(FBN2):c.5918-20A>G
|
|
|
NM_001999.4(FBN2):c.5971T>C (p.Phe1991Leu)
|
|
|
NM_001999.4(FBN2):c.5976T>C (p.Asn1992=)
|
rs1749717202
|
|
NM_001999.4(FBN2):c.6046+10T>C
|
rs1179452976
|
|
NM_001999.4(FBN2):c.6046+16A>G
|
|
|
NM_001999.4(FBN2):c.6047-13T>C
|
|
|
NM_001999.4(FBN2):c.6071C>A (p.Pro2024His)
|
|
|
NM_001999.4(FBN2):c.60G>C (p.Val20=)
|
|
|
NM_001999.4(FBN2):c.6147A>G (p.Val2049=)
|
|
|
NM_001999.4(FBN2):c.6154G>A (p.Glu2052Lys)
|
|
|
NM_001999.4(FBN2):c.6167-12C>T
|
|
|
NM_001999.4(FBN2):c.6167-13_6167-11del
|
rs1749326713
|
|
NM_001999.4(FBN2):c.6167-15C>A
|
rs1749327059
|
|
NM_001999.4(FBN2):c.6167-4G>A
|
rs370981323
|
|
NM_001999.4(FBN2):c.6195C>T (p.Asn2065=)
|
|
|
NM_001999.4(FBN2):c.6231G>A (p.Gly2077=)
|
|
|
NM_001999.4(FBN2):c.6270T>C (p.Ser2090=)
|
rs2126822027
|
|
NM_001999.4(FBN2):c.628+20T>G
|
|
|
NM_001999.4(FBN2):c.628+8G>A
|
|
|
NM_001999.4(FBN2):c.6281G>A (p.Arg2094Gln)
|
|
|
NM_001999.4(FBN2):c.6282G>T (p.Arg2094=)
|
|
|
NM_001999.4(FBN2):c.629-11C>T
|
rs2127084540
|
|
NM_001999.4(FBN2):c.629-15T>G
|
|
|
NM_001999.4(FBN2):c.629-26TCTT[4]
|
rs778383061
|
|
NM_001999.4(FBN2):c.6292+11G>C
|
|
|
NM_001999.4(FBN2):c.6292+17C>G
|
|
|
NM_001999.4(FBN2):c.6292+17C>T
|
rs776362563
|
|
NM_001999.4(FBN2):c.6293-13C>A
|
|
|
NM_001999.4(FBN2):c.63C>G (p.Leu21=)
|
rs2112811119
|
|
NM_001999.4(FBN2):c.6424C>T (p.Leu2142=)
|
rs2126821243
|
|
NM_001999.4(FBN2):c.6426G>A (p.Leu2142=)
|
rs2126821236
|
|
NM_001999.4(FBN2):c.6426G>C (p.Leu2142=)
|
rs2126821236
|
|
NM_001999.4(FBN2):c.6437A>G (p.Asp2146Gly)
|
rs760548036
|
|
NM_001999.4(FBN2):c.6445+14C>T
|
|
|
NM_001999.4(FBN2):c.6445+7G>T
|
|
|
NM_001999.4(FBN2):c.6446-12T>G
|
|
|
NM_001999.4(FBN2):c.6446-15T>C
|
|
|
NM_001999.4(FBN2):c.6446-4G>C
|
|
|
NM_001999.4(FBN2):c.6446-8C>A
|
rs2126820462
|
|
NM_001999.4(FBN2):c.6446T>C (p.Val2149Ala)
|
rs191065419
|
|
NM_001999.4(FBN2):c.6456G>A (p.Gln2152=)
|
|
|
NM_001999.4(FBN2):c.645G>T (p.Pro215=)
|
rs764473594
|
|
NM_001999.4(FBN2):c.6468A>G (p.Pro2156=)
|
|
|
NM_001999.4(FBN2):c.6506G>A (p.Arg2169His)
|
|
|
NM_001999.4(FBN2):c.6512-11C>A
|
rs759648926
|
|
NM_001999.4(FBN2):c.6512-11C>T
|
rs759648926
|
|
NM_001999.4(FBN2):c.6512-8T>A
|
rs2126819626
|
|
NM_001999.4(FBN2):c.6571G>A (p.Asp2191Asn)
|
rs1244642553
|
|
NM_001999.4(FBN2):c.6637+8T>C
|
rs780697390
|
|
NM_001999.4(FBN2):c.6638-13T>A
|
|
|
NM_001999.4(FBN2):c.6638-15_6638-13del
|
rs756212920
|
|
NM_001999.4(FBN2):c.6638-19T>C
|
rs2126818779
|
|
NM_001999.4(FBN2):c.6638-9_6638-7del
|
rs754187604
|
|
NM_001999.4(FBN2):c.6678T>C (p.Gly2226=)
|
rs2126818668
|
|
NM_001999.4(FBN2):c.6693T>C (p.Val2231=)
|
rs1554118051
|
|
NM_001999.4(FBN2):c.6719A>G (p.Asn2240Ser)
|
rs863223612
|
|
NM_001999.4(FBN2):c.6757+8A>T
|
|
|
NM_001999.4(FBN2):c.6757+9T>C
|
|
|
NM_001999.4(FBN2):c.6758-12del
|
rs757126046
|
|
NM_001999.4(FBN2):c.676C>G (p.Gln226Glu)
|
|
|
NM_001999.4(FBN2):c.6777G>A (p.Gln2259=)
|
|
|
NM_001999.4(FBN2):c.677A>G (p.Gln226Arg)
|
|
|
NM_001999.4(FBN2):c.6783A>C (p.Pro2261=)
|
rs1561749096
|
|
NM_001999.4(FBN2):c.6786G>T (p.Leu2262=)
|
|
|
NM_001999.4(FBN2):c.6840G>A (p.Pro2280=)
|
rs377742525
|
|
NM_001999.4(FBN2):c.685C>T (p.Leu229=)
|
rs200698449
|
|
NM_001999.4(FBN2):c.6880+16C>T
|
|
|
NM_001999.4(FBN2):c.6880+19G>T
|
|
|
NM_001999.4(FBN2):c.6881-13T>C
|
|
|
NM_001999.4(FBN2):c.6881-19T>A
|
|
|
NM_001999.4(FBN2):c.6881-4C>G
|
|
|
NM_001999.4(FBN2):c.6903G>A (p.Gly2301=)
|
|
|
NM_001999.4(FBN2):c.6903G>T (p.Gly2301=)
|
rs886039130
|
|
NM_001999.4(FBN2):c.6908A>G (p.His2303Arg)
|
|
|
NM_001999.4(FBN2):c.6948C>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>C (p.Pro2325=)
|
|
|
NM_001999.4(FBN2):c.6986G>T (p.Arg2329Leu)
|
rs370804151
|
|
NM_001999.4(FBN2):c.6993C>T (p.Pro2331=)
|
rs368234173
|
|
NM_001999.4(FBN2):c.6999A>C (p.Gly2333=)
|
|
|
NM_001999.4(FBN2):c.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.705G>A (p.Thr235=)
|
|
|
NM_001999.4(FBN2):c.705G>T (p.Thr235=)
|
|
|
NM_001999.4(FBN2):c.7085G>A (p.Arg2362Lys)
|
rs771718967
|
|
NM_001999.4(FBN2):c.7085G>C (p.Arg2362Thr)
|
rs771718967
|
|
NM_001999.4(FBN2):c.7128T>C (p.Thr2376=)
|
rs1765497836
|
|
NM_001999.4(FBN2):c.714G>C (p.Leu238=)
|
|
|
NM_001999.4(FBN2):c.7155C>T (p.Leu2385=)
|
|
|
NM_001999.4(FBN2):c.7158C>T (p.Cys2386=)
|
rs759522946
|
|
NM_001999.4(FBN2):c.7161T>C (p.Phe2387=)
|
|
|
NM_001999.4(FBN2):c.7170A>T (p.Val2390=)
|
|
|
NM_001999.4(FBN2):c.7204C>T (p.Arg2402Cys)
|
|
|
NM_001999.4(FBN2):c.7260C>T (p.His2420=)
|
rs775251012
|
|
NM_001999.4(FBN2):c.7278A>G (p.Pro2426=)
|
rs773011673
|
|
NM_001999.4(FBN2):c.7288A>G (p.Thr2430Ala)
|
|
|
NM_001999.4(FBN2):c.7345+10T>C
|
|
|
NM_001999.4(FBN2):c.7345+9T>A
|
|
|
NM_001999.4(FBN2):c.7346-17G>T
|
|
|
NM_001999.4(FBN2):c.7346-8G>A
|
rs2126808910
|
|
NM_001999.4(FBN2):c.736G>A (p.Ala246Thr)
|
rs141088981
|
|
NM_001999.4(FBN2):c.737C>T (p.Ala246Val)
|
|
|
NM_001999.4(FBN2):c.738G>T (p.Ala246=)
|
|
|
NM_001999.4(FBN2):c.7392G>A (p.Gln2464=)
|
|
|
NM_001999.4(FBN2):c.7404C>G (p.Thr2468=)
|
|
|
NM_001999.4(FBN2):c.7418G>A (p.Arg2473Gln)
|
rs28763925
|
|
NM_001999.4(FBN2):c.7418G>T (p.Arg2473Leu)
|
rs28763925
|
|
NM_001999.4(FBN2):c.7428C>T (p.Cys2476=)
|
rs2126808790
|
|
NM_001999.4(FBN2):c.7464T>C (p.Ser2488=)
|
rs1765435027
|
|
NM_001999.4(FBN2):c.7467T>C (p.Cys2489=)
|
|
|
NM_001999.4(FBN2):c.7468A>G (p.Ile2490Val)
|
|
|
NM_001999.4(FBN2):c.7495C>A (p.Pro2499Thr)
|
|
|
NM_001999.4(FBN2):c.7539T>C (p.Tyr2513=)
|
rs1581181343
|
|
NM_001999.4(FBN2):c.7560G>C (p.Gly2520=)
|
|
|
NM_001999.4(FBN2):c.7567C>T (p.Leu2523=)
|
rs2126807268
|
|
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.7650C>T (p.Thr2550=)
|
|
|
NM_001999.4(FBN2):c.7656G>A (p.Gly2552=)
|
rs982288060
|
|
NM_001999.4(FBN2):c.7656G>T (p.Gly2552=)
|
|
|
NM_001999.4(FBN2):c.7658G>C (p.Gly2553Ala)
|
rs764514988
|
|
NM_001999.4(FBN2):c.7698C>A (p.His2566Gln)
|
|
|
NM_001999.4(FBN2):c.7704T>C (p.Ala2568=)
|
rs778549338
|
|
NM_001999.4(FBN2):c.7712-8T>G
|
|
|
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.7818T>C (p.Asp2606=)
|
|
|
NM_001999.4(FBN2):c.7837G>A (p.Glu2613Lys)
|
|
|
NM_001999.4(FBN2):c.7840+10T>C
|
|
|
NM_001999.4(FBN2):c.7841-14G>A
|
rs751308498
|
|
NM_001999.4(FBN2):c.78G>C (p.Thr26=)
|
rs1265112696
|
|
NM_001999.4(FBN2):c.78G>T (p.Thr26=)
|
|
|
NM_001999.4(FBN2):c.7906A>C (p.Arg2636=)
|
|
|
NM_001999.4(FBN2):c.7914C>T (p.Gly2638=)
|
|
|
NM_001999.4(FBN2):c.795C>T (p.Phe265=)
|
|
|
NM_001999.4(FBN2):c.7A>C (p.Arg3=)
|
rs1466844222
|
|
NM_001999.4(FBN2):c.8001T>A (p.Ala2667=)
|
|
|
NM_001999.4(FBN2):c.8016C>A (p.Thr2672=)
|
|
|
NM_001999.4(FBN2):c.8035G>T (p.Ala2679Ser)
|
rs763870762
|
|
NM_001999.4(FBN2):c.8040C>T (p.Cys2680=)
|
|
|
NM_001999.4(FBN2):c.8049G>T (p.Gly2683=)
|
rs138044126
|
|
NM_001999.4(FBN2):c.8058C>T (p.Phe2686=)
|
rs150734807
|
|
NM_001999.4(FBN2):c.8061C>T (p.Asp2687=)
|
|
|
NM_001999.4(FBN2):c.806T>C (p.Ile269Thr)
|
rs771008563
|
|
NM_001999.4(FBN2):c.8082C>A (p.His2694Gln)
|
rs142755118
|
|
NM_001999.4(FBN2):c.8082C>T (p.His2694=)
|
rs142755118
|
|
NM_001999.4(FBN2):c.8083G>A (p.Asp2695Asn)
|
|
|
NM_001999.4(FBN2):c.809G>A (p.Arg270His)
|
rs148971572
|
|
NM_001999.4(FBN2):c.8100G>A (p.Ser2700=)
|
|
|
NM_001999.4(FBN2):c.8100G>C (p.Ser2700=)
|
rs138659121
|
|
NM_001999.4(FBN2):c.8127C>G (p.Gly2709=)
|
rs141841206
|
|
NM_001999.4(FBN2):c.8138C>T (p.Thr2713Met)
|
rs754101758
|
|
NM_001999.4(FBN2):c.8143G>A (p.Gly2715Arg)
|
rs772569905
|
|
NM_001999.4(FBN2):c.8164C>T (p.Pro2722Ser)
|
|
|
NM_001999.4(FBN2):c.8187A>G (p.Gly2729=)
|
|
|
NM_001999.4(FBN2):c.8192+20C>T
|
|
|
NM_001999.4(FBN2):c.8192+7C>A
|
rs376135657
|
|
NM_001999.4(FBN2):c.8193-9T>G
|
|
|
NM_001999.4(FBN2):c.81C>A (p.Ala27=)
|
|
|
NM_001999.4(FBN2):c.8251G>A (p.Val2751Ile)
|
|
|
NM_001999.4(FBN2):c.826+18C>G
|
|
|
NM_001999.4(FBN2):c.827-10C>T
|
|
|
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.8313T>C (p.Ser2771=)
|
|
|
NM_001999.4(FBN2):c.8322C>T (p.Asp2774=)
|
rs1554115402
|
|
NM_001999.4(FBN2):c.8327G>A (p.Arg2776Lys)
|
|
|
NM_001999.4(FBN2):c.8331G>A (p.Gln2777=)
|
|
|
NM_001999.4(FBN2):c.834T>C (p.Asp278=)
|
rs2127056960
|
|
NM_001999.4(FBN2):c.8359A>G (p.Thr2787Ala)
|
|
|
NM_001999.4(FBN2):c.8364+17C>T
|
|
|
NM_001999.4(FBN2):c.8364+7A>G
|
rs185052980
|
|
NM_001999.4(FBN2):c.8364+8T>C
|
rs1554115371
|
|
NM_001999.4(FBN2):c.8365-17T>G
|
|
|
NM_001999.4(FBN2):c.8365-4C>G
|
rs878854480
|
|
NM_001999.4(FBN2):c.8379C>T (p.Ser2793=)
|
|
|
NM_001999.4(FBN2):c.837A>G (p.Glu279=)
|
rs2127056950
|
|
NM_001999.4(FBN2):c.8391C>G (p.Val2797=)
|
|
|
NM_001999.4(FBN2):c.8392G>A (p.Asp2798Asn)
|
|
|
NM_001999.4(FBN2):c.8430C>A (p.Ser2810=)
|
|
|
NM_001999.4(FBN2):c.8493C>T (p.His2831=)
|
|
|
NM_001999.4(FBN2):c.8495T>A (p.Ile2832Asn)
|
|
|
NM_001999.4(FBN2):c.8499T>G (p.Arg2833=)
|
|
|
NM_001999.4(FBN2):c.84C>A (p.Gly28=)
|
|
|
NM_001999.4(FBN2):c.8508C>T (p.Ile2836=)
|
rs1764914729
|
|
NM_001999.4(FBN2):c.8517G>C (p.Gly2839=)
|
rs1764914519
|
|
NM_001999.4(FBN2):c.8529C>T (p.Ser2843=)
|
|
|
NM_001999.4(FBN2):c.8536C>T (p.Arg2846Cys)
|
|
|
NM_001999.4(FBN2):c.8537G>T (p.Arg2846Leu)
|
rs200345491
|
|
NM_001999.4(FBN2):c.8543A>G (p.His2848Arg)
|
rs1291203524
|
|
NM_001999.4(FBN2):c.8544C>T (p.His2848=)
|
|
|
NM_001999.4(FBN2):c.8584A>C (p.Lys2862Gln)
|
|
|
NM_001999.4(FBN2):c.8585A>C (p.Lys2862Thr)
|
|
|
NM_001999.4(FBN2):c.8587C>T (p.Leu2863Phe)
|
|
|
NM_001999.4(FBN2):c.8589C>T (p.Leu2863=)
|
rs886038784
|
|
NM_001999.4(FBN2):c.8607A>G (p.Thr2869=)
|
|
|
NM_001999.4(FBN2):c.8639A>G (p.Lys2880Arg)
|
rs1367710207
|
|
NM_001999.4(FBN2):c.8664G>C (p.Glu2888Asp)
|
|
|
NM_001999.4(FBN2):c.8677G>A (p.Asp2893Asn)
|
rs748874308
|
|
NM_001999.4(FBN2):c.8688A>G (p.Leu2896=)
|
rs1194973560
|
|
NM_001999.4(FBN2):c.8703G>A (p.Glu2901=)
|
rs1374026282
|
|
NM_001999.4(FBN2):c.8734T>C (p.Tyr2912His)
|
|
|
NM_001999.4(FBN2):c.89C>T (p.Pro30Leu)
|
|
|
NM_001999.4(FBN2):c.924A>G (p.Lys308=)
|
|
|
NM_001999.4(FBN2):c.952+14C>G
|
|
|
NM_001999.4(FBN2):c.952+7CT[2]
|
rs750915525
|
|
NM_001999.4(FBN2):c.953-10C>T
|
rs2127000191
|
|
NM_001999.4(FBN2):c.953-14C>T
|
|
|
NM_001999.4(FBN2):c.953-18_953-16del
|
|
|
NM_001999.4(FBN2):c.953-9del
|
rs757659311
|
|
NM_001999.4(FBN2):c.960T>C (p.Asp320=)
|
rs1581270421
|
|
NM_001999.4(FBN2):c.969C>T (p.Ser323=)
|
rs1554067083
|
|
NM_003036.4(SKI):c.1025A>T (p.Gln342Leu)
|
rs377336741
|
|
NM_003036.4(SKI):c.1035G>A (p.Ala345=)
|
|
|
NM_003036.4(SKI):c.1041C>G (p.Ser347=)
|
|
|
NM_003036.4(SKI):c.1056G>A (p.Pro352=)
|
|
|
NM_003036.4(SKI):c.1057T>C (p.Ser353Pro)
|
|
|
NM_003036.4(SKI):c.1068G>T (p.Leu356=)
|
rs1057523408
|
|
NM_003036.4(SKI):c.1095+10G>A
|
|
|
NM_003036.4(SKI):c.1095+11G>A
|
|
|
NM_003036.4(SKI):c.1095+17C>T
|
|
|
NM_003036.4(SKI):c.1095+20G>T
|
|
|
NM_003036.4(SKI):c.1101G>T (p.Leu367=)
|
rs1411024116
|
|
NM_003036.4(SKI):c.1104C>T (p.Gly368=)
|
|
|
NM_003036.4(SKI):c.111T>C (p.Ala37=)
|
rs2100789581
|
|
NM_003036.4(SKI):c.1125C>A (p.Arg375=)
|
|
|
NM_003036.4(SKI):c.1128C>A (p.Leu376=)
|
|
|
NM_003036.4(SKI):c.1149C>G (p.Ser383=)
|
|
|
NM_003036.4(SKI):c.1152C>G (p.Pro384=)
|
rs200160702
|
|
NM_003036.4(SKI):c.117G>C (p.Ser39=)
|
|
|
NM_003036.4(SKI):c.1185A>G (p.Pro395=)
|
|
|
NM_003036.4(SKI):c.1194G>A (p.Pro398=)
|
|
|
NM_003036.4(SKI):c.1205G>A (p.Arg402Gln)
|
rs557289756
|
|
NM_003036.4(SKI):c.1211+8G>C
|
rs1411361590
|
|
NM_003036.4(SKI):c.1211+9G>T
|
|
|
NM_003036.4(SKI):c.1212-16C>T
|
|
|
NM_003036.4(SKI):c.1212-6C>T
|
rs752765206
|
|
NM_003036.4(SKI):c.1212-7C>T
|
|
|
NM_003036.4(SKI):c.1230C>T (p.Ser410=)
|
|
|
NM_003036.4(SKI):c.123C>T (p.Arg41=)
|
|
|
NM_003036.4(SKI):c.1248G>A (p.Ala416=)
|
rs768317594
|
|
NM_003036.4(SKI):c.1248G>T (p.Ala416=)
|
|
|
NM_003036.4(SKI):c.1293C>T (p.Ser431=)
|
rs2100918389
|
|
NM_003036.4(SKI):c.1308C>A (p.Ala436=)
|
|
|
NM_003036.4(SKI):c.1308C>G (p.Ala436=)
|
rs139034124
|
|
NM_003036.4(SKI):c.1325C>T (p.Ala442Val)
|
|
|
NM_003036.4(SKI):c.1326C>T (p.Ala442=)
|
|
|
NM_003036.4(SKI):c.1350C>T (p.Thr450=)
|
|
|
NM_003036.4(SKI):c.138C>G (p.Ala46=)
|
rs745527890
|
|
NM_003036.4(SKI):c.1410C>A (p.Pro470=)
|
|
|
NM_003036.4(SKI):c.1419C>T (p.Ala473=)
|
rs748183781
|
|
NM_003036.4(SKI):c.1449G>A (p.Glu483=)
|
|
|
NM_003036.4(SKI):c.144G>A (p.Lys48=)
|
|
|
NM_003036.4(SKI):c.1474+14G>A
|
rs780072344
|
|
NM_003036.4(SKI):c.1474+19C>G
|
rs2100919153
|
|
NM_003036.4(SKI):c.1474+7del
|
rs1640502180
|
|
NM_003036.4(SKI):c.1475-17C>T
|
|
|
NM_003036.4(SKI):c.1479C>T (p.Thr493=)
|
rs754922214
|
|
NM_003036.4(SKI):c.1482C>T (p.Ser494=)
|
|
|
NM_003036.4(SKI):c.1514C>T (p.Thr505Ile)
|
|
|
NM_003036.4(SKI):c.1528G>T (p.Ala510Ser)
|
|
|
NM_003036.4(SKI):c.1539G>T (p.Leu513=)
|
|
|
NM_003036.4(SKI):c.1566C>G (p.Pro522=)
|
|
|
NM_003036.4(SKI):c.1569G>C (p.Ser523=)
|
rs767052019
|
|
NM_003036.4(SKI):c.1582G>C (p.Ala528Pro)
|
|
|
NM_003036.4(SKI):c.1587G>C (p.Ala529=)
|
rs542301067
|
|
NM_003036.4(SKI):c.1601C>T (p.Ala534Val)
|
|
|
NM_003036.4(SKI):c.1647G>C (p.Leu549=)
|
|
|
NM_003036.4(SKI):c.1653C>T (p.Gly551=)
|
|
|
NM_003036.4(SKI):c.1677A>G (p.Lys559=)
|
rs1569862103
|
|
NM_003036.4(SKI):c.1686C>T (p.Phe562=)
|
|
|
NM_003036.4(SKI):c.1710C>A (p.Arg570=)
|
|
|
NM_003036.4(SKI):c.1715A>G (p.Lys572Arg)
|
|
|
NM_003036.4(SKI):c.1728G>A (p.Lys576=)
|
|
|
NM_003036.4(SKI):c.1767+8G>A
|
rs755258323
|
|
NM_003036.4(SKI):c.1768-20G>T
|
rs375518657
|
|
NM_003036.4(SKI):c.1768-4C>G
|
|
|
NM_003036.4(SKI):c.1768-8G>T
|
|
|
NM_003036.4(SKI):c.1785C>G (p.Arg595=)
|
|
|
NM_003036.4(SKI):c.1818G>A (p.Thr606=)
|
rs377110260
|
|
NM_003036.4(SKI):c.1827G>A (p.Lys609=)
|
rs1324710541
|
|
NM_003036.4(SKI):c.183G>C (p.Pro61=)
|
rs774187595
|
|
NM_003036.4(SKI):c.183G>T (p.Pro61=)
|
|
|
NM_003036.4(SKI):c.1848C>A (p.Ile616=)
|
rs1044806468
|
|
NM_003036.4(SKI):c.1863C>T (p.Ala621=)
|
rs200702159
|
|
NM_003036.4(SKI):c.1887G>A (p.Glu629=)
|
rs771953750
|
|
NM_003036.4(SKI):c.1890C>A (p.Ala630=)
|
rs773151547
|
|
NM_003036.4(SKI):c.1890C>T (p.Ala630=)
|
rs773151547
|
|
NM_003036.4(SKI):c.189G>A (p.Pro63=)
|
|
|
NM_003036.4(SKI):c.1913A>G (p.Lys638Arg)
|
|
|
NM_003036.4(SKI):c.1923G>T (p.Leu641=)
|
rs199666240
|
|
NM_003036.4(SKI):c.1932G>A (p.Ala644=)
|
rs1057521646
|
|
NM_003036.4(SKI):c.1965G>A (p.Glu655=)
|
rs1475570086
|
|
NM_003036.4(SKI):c.1971C>T (p.Gly657=)
|
rs878854598
|
|
NM_003036.4(SKI):c.1977G>A (p.Leu659=)
|
rs1298626276
|
|
NM_003036.4(SKI):c.1981G>A (p.Ala661Thr)
|
|
|
NM_003036.4(SKI):c.1983C>T (p.Ala661=)
|
rs973734662
|
|
NM_003036.4(SKI):c.1998+10T>C
|
|
|
NM_003036.4(SKI):c.1999-12G>T
|
|
|
NM_003036.4(SKI):c.1999-14C>G
|
|
|
NM_003036.4(SKI):c.1999-14C>T
|
|
|
NM_003036.4(SKI):c.1999-7C>T
|
|
|
NM_003036.4(SKI):c.1999-9C>G
|
rs369496789
|
|
NM_003036.4(SKI):c.2007C>G (p.Asp669Glu)
|
rs750838146
|
|
NM_003036.4(SKI):c.2007C>T (p.Asp669=)
|
rs750838146
|
|
NM_003036.4(SKI):c.200C>T (p.Ala67Val)
|
|
|
NM_003036.4(SKI):c.2043G>C (p.Arg681=)
|
rs2100925770
|
|
NM_003036.4(SKI):c.2061C>T (p.Asp687=)
|
|
|
NM_003036.4(SKI):c.2067G>A (p.Leu689=)
|
|
|
NM_003036.4(SKI):c.2069G>A (p.Arg690Gln)
|
|
|
NM_003036.4(SKI):c.207G>A (p.Glu69=)
|
|
|
NM_003036.4(SKI):c.2082C>T (p.Ala694=)
|
|
|
NM_003036.4(SKI):c.2091C>T (p.His697=)
|
rs1487847272
|
|
NM_003036.4(SKI):c.2103G>A (p.Val701=)
|
|
|
NM_003036.4(SKI):c.2109G>A (p.Lys703=)
|
|
|
NM_003036.4(SKI):c.2112_2113delinsAT (p.Glu704_Leu705=)
|
rs2100925995
|
|
NM_003036.4(SKI):c.2139C>T (p.Ala713=)
|
|
|
NM_003036.4(SKI):c.2142C>T (p.Arg714=)
|
rs1569868248
|
|
NM_003036.4(SKI):c.2153C>T (p.Ala718Val)
|
|
|
NM_003036.4(SKI):c.2166C>T (p.Gly722=)
|
|
|
NM_003036.4(SKI):c.2169T>G (p.Ala723=)
|
|
|
NM_003036.4(SKI):c.2172G>C (p.Ala724=)
|
rs879070309
|
|
NM_003036.4(SKI):c.2175G>A (p.Glu725=)
|
rs1381348497
|
|
NM_003036.4(SKI):c.2184G>A (p.Pro728=)
|
|
|
NM_003036.4(SKI):c.225C>T (p.His75=)
|
rs1553189880
|
|
NM_003036.4(SKI):c.228G>A (p.Leu76=)
|
rs1297091418
|
|
NM_003036.4(SKI):c.231C>T (p.Pro77=)
|
rs1638568541
|
|
NM_003036.4(SKI):c.261C>A (p.Pro87=)
|
rs1257107710
|
|
NM_003036.4(SKI):c.267C>T (p.Pro89=)
|
|
|
NM_003036.4(SKI):c.270C>T (p.Phe90=)
|
rs1436770788
|
|
NM_003036.4(SKI):c.279G>A (p.Pro93=)
|
rs1638570161
|
|
NM_003036.4(SKI):c.27C>A (p.Gly9=)
|
rs1476360335
|
|
NM_003036.4(SKI):c.282C>G (p.Ser94=)
|
|
|
NM_003036.4(SKI):c.312A>G (p.Val104=)
|
rs368195821
|
|
NM_003036.4(SKI):c.313C>T (p.Leu105=)
|
|
|
NM_003036.4(SKI):c.318A>G (p.Glu106=)
|
rs564817940
|
|
NM_003036.4(SKI):c.342G>T (p.Val114=)
|
rs1057523880
|
|
NM_003036.4(SKI):c.351C>T (p.Gly117=)
|
rs781703488
|
|
NM_003036.4(SKI):c.360C>A (p.Arg120=)
|
|
|
NM_003036.4(SKI):c.381C>T (p.Leu127=)
|
rs371497152
|
|
NM_003036.4(SKI):c.399C>T (p.Asp133=)
|
rs937379586
|
|
NM_003036.4(SKI):c.405_406delinsTT (p.Ser135_Leu136=)
|
rs2100790167
|
|
NM_003036.4(SKI):c.417C>A (p.Ile139=)
|
rs144874401
|
|
NM_003036.4(SKI):c.420C>T (p.Asn140=)
|
rs1013962872
|
|
NM_003036.4(SKI):c.423G>C (p.Ala141=)
|
|
|
NM_003036.4(SKI):c.444C>T (p.Ile148=)
|
rs1391345174
|
|
NM_003036.4(SKI):c.453G>A (p.Ser151=)
|
|
|
NM_003036.4(SKI):c.468C>T (p.Asp156=)
|
|
|
NM_003036.4(SKI):c.489C>T (p.Val163=)
|
rs373291824
|
|
NM_003036.4(SKI):c.48G>A (p.Gly16=)
|
|
|
NM_003036.4(SKI):c.516C>G (p.Pro172=)
|
rs182513685
|
|
NM_003036.4(SKI):c.51G>A (p.Leu17=)
|
rs763997001
|
|
NM_003036.4(SKI):c.522C>T (p.Cys174=)
|
|
|
NM_003036.4(SKI):c.525G>A (p.Gly175=)
|
|
|
NM_003036.4(SKI):c.525G>T (p.Gly175=)
|
|
|
NM_003036.4(SKI):c.528C>T (p.Leu176=)
|
|
|
NM_003036.4(SKI):c.531C>T (p.Ile177=)
|
rs1286351303
|
|
NM_003036.4(SKI):c.540G>C (p.Thr180=)
|
|
|
NM_003036.4(SKI):c.570C>T (p.Leu190=)
|
rs1253539827
|
|
NM_003036.4(SKI):c.57G>A (p.Lys19=)
|
|
|
NM_003036.4(SKI):c.581C>A (p.Ala194Asp)
|
rs746882046
|
|
NM_003036.4(SKI):c.584A>T (p.Tyr195Phe)
|
rs1474048036
|
|
NM_003036.4(SKI):c.585C>T (p.Tyr195=)
|
|
|
NM_003036.4(SKI):c.612C>T (p.Ala204=)
|
rs2100790564
|
|
NM_003036.4(SKI):c.631C>T (p.Leu211=)
|
|
|
NM_003036.4(SKI):c.636G>A (p.Glu212=)
|
rs1461255065
|
|
NM_003036.4(SKI):c.654C>T (p.Val218=)
|
|
|
NM_003036.4(SKI):c.657C>T (p.Arg219=)
|
|
|
NM_003036.4(SKI):c.672C>T (p.Cys224=)
|
|
|
NM_003036.4(SKI):c.714C>T (p.Ser238=)
|
rs1569660010
|
|
NM_003036.4(SKI):c.717C>T (p.Ser239=)
|
|
|
NM_003036.4(SKI):c.720G>A (p.Pro240=)
|
rs1569660069
|
|
NM_003036.4(SKI):c.729C>T (p.Ala243=)
|
|
|
NM_003036.4(SKI):c.742C>T (p.Leu248=)
|
|
|
NM_003036.4(SKI):c.765G>C (p.Pro255=)
|
|
|
NM_003036.4(SKI):c.768G>A (p.Pro256=)
|
rs1057521232
|
|
NM_003036.4(SKI):c.768G>T (p.Pro256=)
|
|
|
NM_003036.4(SKI):c.777C>T (p.Phe259=)
|
rs2100790901
|
|
NM_003036.4(SKI):c.780G>A (p.Val260=)
|
|
|
NM_003036.4(SKI):c.786C>T (p.His262=)
|
|
|
NM_003036.4(SKI):c.789G>T (p.Ser263=)
|
|
|
NM_003036.4(SKI):c.828C>T (p.Phe276=)
|
|
|
NM_003036.4(SKI):c.840C>T (p.Asn280=)
|
rs1423154745
|
|
NM_003036.4(SKI):c.84C>T (p.Ser28=)
|
|
|
NM_003036.4(SKI):c.858G>A (p.Leu286=)
|
|
|
NM_003036.4(SKI):c.867G>A (p.Gln289=)
|
|
|
NM_003036.4(SKI):c.903C>T (p.Gly301=)
|
|
|
NM_003036.4(SKI):c.915C>T (p.Asp305=)
|
rs900879745
|
|
NM_003036.4(SKI):c.921G>A (p.Val307=)
|
|
|
NM_003036.4(SKI):c.924G>A (p.Lys308=)
|
|
|
NM_003036.4(SKI):c.951C>T (p.Tyr317=)
|
|
|
NM_003036.4(SKI):c.963G>T (p.Val321=)
|
|
|
NM_003036.4(SKI):c.969+10C>T
|
|
|
NM_003036.4(SKI):c.970-13dup
|
|
|
NM_003036.4(SKI):c.970-19A>G
|
|
|
NM_003036.4(SKI):c.970-4G>A
|
|
|
NM_003036.4(SKI):c.987G>C (p.Pro329=)
|
|
|
NM_003036.4(SKI):c.99C>T (p.Gly33=)
|
|
|
NM_003036.4(SKI):c.9G>C (p.Ala3=)
|
|
|
NM_003238.6(TGFB2):c.1032C>T (p.Asn344=)
|
|
|
NM_003238.6(TGFB2):c.1041T>C (p.Ala347=)
|
|
|
NM_003238.6(TGFB2):c.1071C>T (p.Asp357=)
|
|
|
NM_003238.6(TGFB2):c.1080C>T (p.His360=)
|
rs2102630189
|
|
NM_003238.6(TGFB2):c.1086+10C>T
|
|
|
NM_003238.6(TGFB2):c.1086+13C>T
|
|
|
NM_003238.6(TGFB2):c.1086+15T>A
|
|
|
NM_003238.6(TGFB2):c.1107C>A (p.Thr369=)
|
rs2102634327
|
|
NM_003238.6(TGFB2):c.111C>A (p.Ile37=)
|
rs1440677621
|
|
NM_003238.6(TGFB2):c.111C>T (p.Ile37=)
|
|
|
NM_003238.6(TGFB2):c.1162C>T (p.Leu388=)
|
|
|
NM_003238.6(TGFB2):c.117G>C (p.Ala39=)
|
rs1430240541
|
|
NM_003238.6(TGFB2):c.1185C>T (p.Gly395=)
|
|
|
NM_003238.6(TGFB2):c.1227G>A (p.Lys409=)
|
rs2102634493
|
|
NM_003238.6(TGFB2):c.1230T>C (p.Ser410=)
|
rs2102634500
|
|
NM_003238.6(TGFB2):c.133C>T (p.Leu45=)
|
rs1553292084
|
|
NM_003238.6(TGFB2):c.142C>T (p.Leu48=)
|
rs2102527511
|
|
NM_003238.6(TGFB2):c.159C>T (p.Pro53=)
|
|
|
NM_003238.6(TGFB2):c.174T>G (p.Pro58=)
|
|
|
NM_003238.6(TGFB2):c.183G>A (p.Glu61=)
|
|
|
NM_003238.6(TGFB2):c.186A>G (p.Glu62=)
|
|
|
NM_003238.6(TGFB2):c.189C>A (p.Val63=)
|
|
|
NM_003238.6(TGFB2):c.189C>T (p.Val63=)
|
rs774030175
|
|
NM_003238.6(TGFB2):c.234C>T (p.Leu78=)
|
|
|
NM_003238.6(TGFB2):c.243G>A (p.Lys81=)
|
rs2102527710
|
|
NM_003238.6(TGFB2):c.252G>C (p.Arg84=)
|
|
|
NM_003238.6(TGFB2):c.255G>A (p.Arg85=)
|
|
|
NM_003238.6(TGFB2):c.285C>A (p.Asp95Glu)
|
rs767393318
|
|
NM_003238.6(TGFB2):c.291G>A (p.Glu97=)
|
|
|
NM_003238.6(TGFB2):c.30G>C (p.Leu10=)
|
rs1571820584
|
|
NM_003238.6(TGFB2):c.327G>C (p.Pro109=)
|
|
|
NM_003238.6(TGFB2):c.346+12T>C
|
|
|
NM_003238.6(TGFB2):c.346+12T>G
|
|
|
NM_003238.6(TGFB2):c.346+8C>G
|
rs1553292149
|
|
NM_003238.6(TGFB2):c.399C>T (p.Asp133=)
|
|
|
NM_003238.6(TGFB2):c.417G>A (p.Lys139=)
|
|
|
NM_003238.6(TGFB2):c.441A>T (p.Ala147=)
|
rs1036004441
|
|
NM_003238.6(TGFB2):c.459T>C (p.Arg153=)
|
|
|
NM_003238.6(TGFB2):c.486T>C (p.Pro162=)
|
|
|
NM_003238.6(TGFB2):c.504A>G (p.Leu168=)
|
|
|
NM_003238.6(TGFB2):c.510+12TTG[11]
|
rs10482769
|
|
NM_003238.6(TGFB2):c.510+12TTG[12]
|
rs10482769
|
|
NM_003238.6(TGFB2):c.510+12TTG[13]
|
rs10482769
|
|
NM_003238.6(TGFB2):c.510+12TTG[14]
|
rs10482769
|
|
NM_003238.6(TGFB2):c.510+12TTG[15]
|
rs10482769
|
|
NM_003238.6(TGFB2):c.510+12TTG[16]
|
|
|
NM_003238.6(TGFB2):c.510+12TTG[6]
|
rs10482769
|
|
NM_003238.6(TGFB2):c.510+12TTG[7]
|
rs10482769
|
|
NM_003238.6(TGFB2):c.510+12TTG[8]
|
rs10482769
|
|
NM_003238.6(TGFB2):c.510+12TTG[9]
|
rs10482769
|
|
NM_003238.6(TGFB2):c.510+9C>T
|
rs1481374757
|
|
NM_003238.6(TGFB2):c.511-18G>A
|
|
|
NM_003238.6(TGFB2):c.511-8C>T
|
rs770497232
|
|
NM_003238.6(TGFB2):c.511-9C>T
|
rs1309139149
|
|
NM_003238.6(TGFB2):c.513T>C (p.Ile171=)
|
rs1248612292
|
|
NM_003238.6(TGFB2):c.543C>G (p.Thr181=)
|
rs1446432119
|
|
NM_003238.6(TGFB2):c.546G>A (p.Gln182=)
|
rs1553302931
|
|
NM_003238.6(TGFB2):c.57C>T (p.Leu19=)
|
rs1224916923
|
|
NM_003238.6(TGFB2):c.582A>G (p.Ala194=)
|
|
|
NM_003238.6(TGFB2):c.600C>T (p.Ser200=)
|
rs2102626461
|
|
NM_003238.6(TGFB2):c.643+9C>A
|
|
|
NM_003238.6(TGFB2):c.644-17G>C
|
|
|
NM_003238.6(TGFB2):c.651C>T (p.Asn217=)
|
rs749957893
|
|
NM_003238.6(TGFB2):c.663A>G (p.Lys221=)
|
|
|
NM_003238.6(TGFB2):c.754+7A>G
|
|
|
NM_003238.6(TGFB2):c.755-17A>C
|
|
|
NM_003238.6(TGFB2):c.755-18C>T
|
|
|
NM_003238.6(TGFB2):c.755-6T>C
|
|
|
NM_003238.6(TGFB2):c.759T>C (p.Ile253=)
|
|
|
NM_003238.6(TGFB2):c.774A>C (p.Thr258=)
|
|
|
NM_003238.6(TGFB2):c.792G>A (p.Gln264=)
|
rs2102628465
|
|
NM_003238.6(TGFB2):c.795A>G (p.Lys265=)
|
|
|
NM_003238.6(TGFB2):c.810T>G (p.Thr270=)
|
rs778961900
|
|
NM_003238.6(TGFB2):c.81C>A (p.Leu27=)
|
|
|
NM_003238.6(TGFB2):c.828G>A (p.Gly276=)
|
rs1659959926
|
|
NM_003238.6(TGFB2):c.864C>G (p.Ser288=)
|
rs373646036
|
|
NM_003238.6(TGFB2):c.876G>A (p.Glu292=)
|
rs2102628622
|
|
NM_003238.6(TGFB2):c.885G>A (p.Gln295=)
|
|
|
NM_003238.6(TGFB2):c.888C>T (p.Thr296=)
|
|
|
NM_003238.6(TGFB2):c.895C>A (p.Arg299=)
|
rs863223792
|
|
NM_003238.6(TGFB2):c.906T>G (p.Arg302=)
|
|
|
NM_003238.6(TGFB2):c.921C>T (p.Ala307=)
|
rs2102628692
|
|
NM_003238.6(TGFB2):c.924T>C (p.Tyr308=)
|
|
|
NM_003238.6(TGFB2):c.932+16G>A
|
rs2102628719
|
|
NM_003238.6(TGFB2):c.933-14_933-13insG
|
|
|
NM_003238.6(TGFB2):c.933-18T>C
|
|
|
NM_003238.6(TGFB2):c.933-9T>C
|
rs763680794
|
|
NM_003238.6(TGFB2):c.936T>C (p.Asn312=)
|
|
|
NM_003238.6(TGFB2):c.963A>G (p.Pro321=)
|
|
|
NM_003238.6(TGFB2):c.975T>C (p.Asp325=)
|
|
|
NM_003238.6(TGFB2):c.978C>T (p.Phe326=)
|
rs1405556618
|
|
NM_003238.6(TGFB2):c.990A>G (p.Leu330=)
|
|
|
NM_003239.5(TGFB3):c.1023C>T (p.Ala341=)
|
rs2035149393
|
|
NM_003239.5(TGFB3):c.1026C>T (p.Asn342=)
|
|
|
NM_003239.5(TGFB3):c.1059T>C (p.Ser353=)
|
|
|
NM_003239.5(TGFB3):c.1065C>T (p.Asp355=)
|
|
|
NM_003239.5(TGFB3):c.1074C>T (p.His358=)
|
rs2140236128
|
|
NM_003239.5(TGFB3):c.1080+14T>A
|
|
|
NM_003239.5(TGFB3):c.1081-10C>A
|
|
|
NM_003239.5(TGFB3):c.1081-12G>A
|
|
|
NM_003239.5(TGFB3):c.1081-8C>G
|
rs773558367
|
|
NM_003239.5(TGFB3):c.1081-8C>T
|
rs773558367
|
|
NM_003239.5(TGFB3):c.1083G>T (p.Val361=)
|
rs1595336749
|
|
NM_003239.5(TGFB3):c.1101T>G (p.Thr367=)
|
|
|
NM_003239.5(TGFB3):c.1125G>A (p.Ser375=)
|
|
|
NM_003239.5(TGFB3):c.1128T>C (p.Pro376=)
|
|
|
NM_003239.5(TGFB3):c.1149G>A (p.Leu383=)
|
rs1555360032
|
|
NM_003239.5(TGFB3):c.1173T>C (p.Tyr391=)
|
|
|
NM_003239.5(TGFB3):c.1179G>A (p.Gly393=)
|
rs1555360030
|
|
NM_003239.5(TGFB3):c.1182G>A (p.Arg394=)
|
|
|
NM_003239.5(TGFB3):c.1194G>A (p.Val398=)
|
rs767894523
|
|
NM_003239.5(TGFB3):c.1236C>T (p.Ser412=)
|
rs1231643522
|
|
NM_003239.5(TGFB3):c.135A>T (p.Gly45=)
|
rs759608485
|
|
NM_003239.5(TGFB3):c.144G>A (p.Leu48=)
|
rs1479160942
|
|
NM_003239.5(TGFB3):c.150G>A (p.Lys50=)
|
rs1330137432
|
|
NM_003239.5(TGFB3):c.153C>T (p.Leu51=)
|
rs760506739
|
|
NM_003239.5(TGFB3):c.162C>T (p.Thr54=)
|
|
|
NM_003239.5(TGFB3):c.165C>T (p.Ser55=)
|
|
|
NM_003239.5(TGFB3):c.171T>C (p.Pro57=)
|
rs768225719
|
|
NM_003239.5(TGFB3):c.171T>G (p.Pro57=)
|
|
|
NM_003239.5(TGFB3):c.180G>A (p.Thr60=)
|
rs1594792436
|
|
NM_003239.5(TGFB3):c.210G>C (p.Leu70=)
|
rs2140254337
|
|
NM_003239.5(TGFB3):c.219C>T (p.Tyr73=)
|
|
|
NM_003239.5(TGFB3):c.231G>A (p.Arg77=)
|
|
|
NM_003239.5(TGFB3):c.237G>A (p.Leu79=)
|
rs2140254299
|
|
NM_003239.5(TGFB3):c.237G>T (p.Leu79=)
|
|
|
NM_003239.5(TGFB3):c.258G>A (p.Glu86=)
|
rs761683627
|
|
NM_003239.5(TGFB3):c.291G>A (p.Glu97=)
|
rs1286432002
|
|
NM_003239.5(TGFB3):c.300C>T (p.Tyr100=)
|
|
|
NM_003239.5(TGFB3):c.345G>A (p.Ala115=)
|
rs1060504730
|
|
NM_003239.5(TGFB3):c.352+10A>G
|
|
|
NM_003239.5(TGFB3):c.352+13T>C
|
|
|
NM_003239.5(TGFB3):c.352+17G>A
|
|
|
NM_003239.5(TGFB3):c.353-14G>T
|
rs886050797
|
|
NM_003239.5(TGFB3):c.353-14_353-10del
|
rs1422599707
|
|
NM_003239.5(TGFB3):c.353-19G>C
|
|
|
NM_003239.5(TGFB3):c.353-4C>G
|
|
|
NM_003239.5(TGFB3):c.353-5C>T
|
rs1355725139
|
|
NM_003239.5(TGFB3):c.438A>G (p.Leu146=)
|
rs2140245833
|
|
NM_003239.5(TGFB3):c.43C>T (p.Leu15=)
|
|
|
NM_003239.5(TGFB3):c.441C>T (p.Phe147=)
|
rs560468476
|
|
NM_003239.5(TGFB3):c.471C>T (p.Pro157=)
|
rs768917005
|
|
NM_003239.5(TGFB3):c.498G>A (p.Gln166=)
|
rs886050796
|
|
NM_003239.5(TGFB3):c.516+18G>C
|
rs1594787972
|
|
NM_003239.5(TGFB3):c.516+8C>A
|
rs2035292281
|
|
NM_003239.5(TGFB3):c.516+9T>C
|
rs2140245664
|
|
NM_003239.5(TGFB3):c.517-10T>C
|
rs375794497
|
|
NM_003239.5(TGFB3):c.517-13C>T
|
|
|
NM_003239.5(TGFB3):c.517-18C>G
|
|
|
NM_003239.5(TGFB3):c.525G>C (p.Arg175=)
|
|
|
NM_003239.5(TGFB3):c.57G>A (p.Thr19=)
|
|
|
NM_003239.5(TGFB3):c.57G>C (p.Thr19=)
|
rs1325304886
|
|
NM_003239.5(TGFB3):c.646+16A>T
|
|
|
NM_003239.5(TGFB3):c.646+17G>T
|
|
|
NM_003239.5(TGFB3):c.646+18A>C
|
|
|
NM_003239.5(TGFB3):c.646+9A>G
|
rs903703321
|
|
NM_003239.5(TGFB3):c.647-17T>C
|
rs937023243
|
|
NM_003239.5(TGFB3):c.66C>T (p.Leu22=)
|
|
|
NM_003239.5(TGFB3):c.684A>G (p.Pro228=)
|
rs745821422
|
|
NM_003239.5(TGFB3):c.708A>G (p.Gly236=)
|
rs2035212392
|
|
NM_003239.5(TGFB3):c.711T>C (p.Asp237=)
|
rs1206735679
|
|
NM_003239.5(TGFB3):c.714C>T (p.Ile238=)
|
|
|
NM_003239.5(TGFB3):c.735G>T (p.Val245=)
|
|
|
NM_003239.5(TGFB3):c.750C>T (p.Phe250=)
|
rs2140240196
|
|
NM_003239.5(TGFB3):c.754+11G>T
|
|
|
NM_003239.5(TGFB3):c.755-10C>T
|
|
|
NM_003239.5(TGFB3):c.755-14C>T
|
|
|
NM_003239.5(TGFB3):c.755-16del
|
|
|
NM_003239.5(TGFB3):c.755-18T>C
|
|
|
NM_003239.5(TGFB3):c.755-6C>G
|
rs1283455840
|
|
NM_003239.5(TGFB3):c.756C>A (p.Gly252=)
|
|
|
NM_003239.5(TGFB3):c.756C>T (p.Gly252=)
|
rs369435862
|
|
NM_003239.5(TGFB3):c.777T>C (p.His259=)
|
rs1595339249
|
|
NM_003239.5(TGFB3):c.795G>A (p.Gly265=)
|
rs1213571239
|
|
NM_003239.5(TGFB3):c.810G>A (p.Gln270=)
|
rs1595339194
|
|
NM_003239.5(TGFB3):c.832C>T (p.Leu278=)
|
rs2035182890
|
|
NM_003239.5(TGFB3):c.837C>T (p.Ile279=)
|
|
|
NM_003239.5(TGFB3):c.864C>T (p.Leu288=)
|
|
|
NM_003239.5(TGFB3):c.926+11G>A
|
rs2035179873
|
|
NM_003239.5(TGFB3):c.926+11del
|
rs2140238030
|
|
NM_003239.5(TGFB3):c.926+12C>T
|
|
|
NM_003239.5(TGFB3):c.926+19G>C
|
|
|
NM_003239.5(TGFB3):c.926+19_926+30del
|
|
|
NM_003239.5(TGFB3):c.926+9G>A
|
rs771442662
|
|
NM_003239.5(TGFB3):c.927-14G>A
|
|
|
NM_003239.5(TGFB3):c.927-15T>C
|
|
|
NM_003239.5(TGFB3):c.927-6T>C
|
|
|
NM_003239.5(TGFB3):c.927-7G>A
|
rs2140236302
|
|
NM_003239.5(TGFB3):c.951G>A (p.Val317=)
|
|
|
NM_003239.5(TGFB3):c.954C>T (p.Arg318=)
|
rs1595337745
|
|
NM_003239.5(TGFB3):c.973C>A (p.Arg325=)
|
|
|