NM_000138.5(FBN1):c.*730G>T
|
rs13598
|
0.89602
|
NM_000138.5(FBN1):c.*2158G>A
|
rs11070641
|
0.75090
|
NM_000138.5(FBN1):c.*1575T>G
|
rs4775760
|
0.68134
|
NM_000138.5(FBN1):c.6997+17C>G
|
rs363832
|
0.67656
|
NM_000138.5(FBN1):c.*314C>T
|
rs1042078
|
0.63415
|
NM_000138.5(FBN1):c.1875T>C (p.Asn625=)
|
rs25458
|
0.25074
|
NM_000138.5(FBN1):c.3464-5G>A
|
rs11853943
|
0.16287
|
NM_000138.5(FBN1):c.156G>T (p.Ala52=)
|
rs25398
|
0.06859
|
NM_000138.4(FBN1):c.-388C>T
|
rs3825792
|
0.06008
|
NM_000138.5(FBN1):c.*2040T>C
|
rs73390272
|
0.03120
|
NM_000138.5(FBN1):c.*1959G>A
|
rs12050562
|
0.03119
|
NM_000138.5(FBN1):c.6855T>C (p.Asp2285=)
|
rs363836
|
0.02755
|
NM_000138.5(FBN1):c.6888G>A (p.Gln2296=)
|
rs363830
|
0.02418
|
NM_000138.5(FBN1):c.7819+8A>C
|
rs363838
|
0.02324
|
NM_000138.5(FBN1):c.*57A>G
|
rs363849
|
0.01992
|
NM_000138.5(FBN1):c.1960+30G>A
|
rs25459
|
0.01932
|
NM_000138.5(FBN1):c.2420-58del
|
rs149403312
|
0.01826
|
NM_000138.5(FBN1):c.4460-19A>G
|
rs55840194
|
0.01556
|
NM_000138.5(FBN1):c.3082+6A>G
|
rs79321504
|
0.01406
|
NM_000138.5(FBN1):c.*1989C>T
|
rs56194244
|
0.01330
|
NM_000138.5(FBN1):c.*1368A>G
|
rs77212138
|
0.01328
|
NM_000138.5(FBN1):c.3442C>G (p.Pro1148Ala)
|
rs140598
|
0.01315
|
NM_000138.5(FBN1):c.3294C>T (p.Asp1098=)
|
rs140587
|
0.01051
|
NM_000138.5(FBN1):c.3965-8T>C
|
rs140637
|
0.00859
|
NM_000138.5(FBN1):c.*867G>T
|
rs189749406
|
0.00798
|
NM_000138.5(FBN1):c.986T>C (p.Ile329Thr)
|
rs12324002
|
0.00737
|
NM_000138.5(FBN1):c.*2153A>G
|
rs116443051
|
0.00654
|
NM_000138.5(FBN1):c.5343G>A (p.Val1781=)
|
rs140649
|
0.00561
|
NM_000138.5(FBN1):c.2855-9C>T
|
rs140590
|
0.00556
|
NM_000138.5(FBN1):c.6393C>T (p.Cys2131=)
|
rs61730051
|
0.00522
|
NM_000138.5(FBN1):c.*1580G>A
|
rs17352989
|
0.00504
|
NM_000138.5(FBN1):c.*2674T>A
|
rs142196699
|
0.00484
|
NM_000138.5(FBN1):c.*1084T>C
|
rs3803350
|
0.00464
|
NM_000138.5(FBN1):c.6594C>T (p.Pro2198=)
|
rs111844882
|
0.00439
|
NM_000138.5(FBN1):c.1746C>T (p.Cys582=)
|
rs112366266
|
0.00436
|
NM_000138.5(FBN1):c.3675G>A (p.Pro1225=)
|
rs148147223
|
0.00436
|
NM_000138.5(FBN1):c.4905C>G (p.Thr1635=)
|
rs113115949
|
0.00435
|
NM_000138.5(FBN1):c.306C>T (p.Cys102=)
|
rs25388
|
0.00372
|
NM_000138.5(FBN1):c.*1298C>G
|
rs143446014
|
0.00360
|
NM_000138.5(FBN1):c.3082+8del
|
rs193922196
|
0.00359
|
NM_000138.5(FBN1):c.2678-15C>T
|
rs181681840
|
0.00324
|
NM_000138.5(FBN1):c.8283A>T (p.Thr2761=)
|
rs146120912
|
0.00314
|
NM_000138.5(FBN1):c.2055C>T (p.Cys685=)
|
rs140603
|
0.00304
|
NM_000138.5(FBN1):c.7497A>G (p.Leu2499=)
|
rs148516442
|
0.00268
|
NM_000138.5(FBN1):c.*2524A>G
|
rs75372203
|
0.00254
|
NM_000138.5(FBN1):c.*1245C>T
|
rs181099623
|
0.00207
|
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His)
|
rs137854475
|
0.00168
|
NM_000138.5(FBN1):c.2420-8T>C
|
rs140582
|
0.00163
|
NM_000138.5(FBN1):c.1714+54del
|
rs193922184
|
0.00156
|
NM_000138.5(FBN1):c.*1252A>G
|
rs566419089
|
0.00150
|
NM_000138.5(FBN1):c.3069G>A (p.Lys1023=)
|
rs199789628
|
0.00148
|
NM_000138.5(FBN1):c.8502T>C (p.Thr2834=)
|
rs363847
|
0.00148
|
NM_000138.5(FBN1):c.*2398G>T
|
rs377530465
|
0.00135
|
NM_000138.5(FBN1):c.3463+3A>G
|
rs80344206
|
0.00128
|
NM_000138.5(FBN1):c.6073G>T (p.Ala2025Ser)
|
rs113577372
|
0.00115
|
NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly)
|
rs61730054
|
0.00113
|
NM_000138.5(FBN1):c.7950T>C (p.Asn2650=)
|
rs143055643
|
0.00113
|
NM_000138.5(FBN1):c.6681A>C (p.Ser2227=)
|
rs363824
|
0.00109
|
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr)
|
rs112287730
|
0.00107
|
NM_000138.5(FBN1):c.*2045G>A
|
rs372254135
|
0.00106
|
NM_000138.5(FBN1):c.*2024A>G
|
rs558488257
|
0.00103
|
NM_000138.5(FBN1):c.6837G>A (p.Gly2279=)
|
rs140584234
|
0.00094
|
NM_000138.5(FBN1):c.783T>C (p.Asn261=)
|
rs113721547
|
0.00091
|
NM_000138.5(FBN1):c.6987C>G (p.Asp2329Glu)
|
rs363831
|
0.00089
|
NM_000138.5(FBN1):c.6616+17G>A
|
rs363822
|
0.00086
|
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_000138.5(FBN1):c.*2091G>A
|
rs575922741
|
0.00073
|
NM_000138.5(FBN1):c.2934C>G (p.Asp978Glu)
|
rs138438849
|
0.00070
|
NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp)
|
rs61746008
|
0.00070
|
NM_000138.5(FBN1):c.3077T>C (p.Phe1026Ser)
|
rs200381100
|
0.00067
|
NM_000138.5(FBN1):c.*779C>T
|
rs113200355
|
0.00064
|
NM_000138.5(FBN1):c.*1341C>T
|
rs766719764
|
0.00061
|
NM_000138.5(FBN1):c.3422C>T (p.Pro1141Leu)
|
rs2228241
|
0.00054
|
NM_000138.5(FBN1):c.8385C>T (p.Ile2795=)
|
rs138574576
|
0.00054
|
NM_000138.5(FBN1):c.4683C>T (p.Ser1561=)
|
rs148024160
|
0.00053
|
NM_000138.5(FBN1):c.6038-37G>A
|
rs202137580
|
0.00051
|
NM_000138.5(FBN1):c.7346A>G (p.Asn2449Ser)
|
rs146166400
|
0.00049
|
NM_000138.5(FBN1):c.5065+10A>G
|
rs375945405
|
0.00048
|
NM_000138.5(FBN1):c.5296+14G>A
|
rs140650
|
0.00045
|
NM_000138.5(FBN1):c.7098C>T (p.Asp2366=)
|
rs1005074
|
0.00044
|
NM_000138.5(FBN1):c.*43A>T
|
rs144710695
|
0.00043
|
NM_000138.5(FBN1):c.3890A>G (p.Glu1297Gly)
|
rs200342067
|
0.00043
|
NM_000138.5(FBN1):c.645A>C (p.Arg215=)
|
rs200062771
|
0.00043
|
NM_000138.5(FBN1):c.2148A>G (p.Gly716=)
|
rs141039922
|
0.00042
|
NM_000138.5(FBN1):c.2895G>A (p.Glu965=)
|
rs140591
|
0.00038
|
NM_000138.5(FBN1):c.*2395G>A
|
rs184719603
|
0.00035
|
NM_000138.5(FBN1):c.1265G>A (p.Gly422Glu)
|
rs139968089
|
0.00035
|
NM_000138.5(FBN1):c.5964C>T (p.Thr1988=)
|
rs113022801
|
0.00034
|
NM_000138.5(FBN1):c.5788+10C>A
|
rs371560107
|
0.00032
|
NM_000138.5(FBN1):c.8363C>T (p.Thr2788Met)
|
rs143007898
|
0.00031
|
NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile)
|
rs183306990
|
0.00030
|
NM_000138.5(FBN1):c.*1720C>T
|
rs557301792
|
0.00029
|
NM_000138.5(FBN1):c.2175T>C (p.Asn725=)
|
rs140606
|
0.00029
|
NM_000138.5(FBN1):c.3058A>G (p.Thr1020Ala)
|
rs111801777
|
0.00029
|
NM_000138.5(FBN1):c.4750G>A (p.Glu1584Lys)
|
rs148888513
|
0.00029
|
NM_000138.5(FBN1):c.7072G>A (p.Val2358Ile)
|
rs140537304
|
0.00028
|
NM_000138.5(FBN1):c.*1949T>C
|
rs534577080
|
0.00026
|
NM_000138.5(FBN1):c.2187A>C (p.Leu729=)
|
rs61730055
|
0.00026
|
NM_000138.5(FBN1):c.4443C>T (p.Ser1481=)
|
rs145040593
|
0.00026
|
NM_000138.5(FBN1):c.539-15del
|
rs193922211
|
0.00026
|
NM_000138.5(FBN1):c.5423-4G>A
|
rs377036485
|
0.00026
|
NM_000138.5(FBN1):c.7338C>T (p.Asn2446=)
|
rs140178192
|
0.00025
|
NM_000138.5(FBN1):c.*1706C>A
|
rs770825180
|
0.00024
|
NM_000138.5(FBN1):c.*2360C>G
|
rs144404153
|
0.00024
|
NM_000138.5(FBN1):c.2678-12T>C
|
rs200368037
|
0.00024
|
NM_000138.5(FBN1):c.8445C>T (p.Leu2815=)
|
rs142304692
|
0.00024
|
NM_000138.5(FBN1):c.6314-15G>A
|
rs200841830
|
0.00023
|
NM_000138.5(FBN1):c.*1432A>T
|
rs750902806
|
0.00022
|
NM_000138.5(FBN1):c.6705A>C (p.Gly2235=)
|
rs2229326
|
0.00019
|
NM_000138.5(FBN1):c.7852G>A (p.Gly2618Arg)
|
rs141133182
|
0.00019
|
NM_000138.5(FBN1):c.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.3514G>A (p.Val1172Met)
|
rs200125037
|
0.00017
|
NM_000138.5(FBN1):c.6342A>C (p.Gly2114=)
|
rs374705586
|
0.00017
|
NM_000138.5(FBN1):c.*1228T>C
|
rs372333234
|
0.00016
|
NM_000138.5(FBN1):c.3454G>A (p.Ala1152Thr)
|
rs140890215
|
0.00016
|
NM_000138.5(FBN1):c.6380-3A>G
|
rs567703513
|
0.00016
|
NM_000138.5(FBN1):c.8027C>T (p.Pro2676Leu)
|
rs146469379
|
0.00016
|
NM_000138.5(FBN1):c.1371C>G (p.Arg457=)
|
rs25436
|
0.00015
|
NM_000138.5(FBN1):c.3423G>A (p.Pro1141=)
|
rs140396599
|
0.00015
|
NM_000138.5(FBN1):c.7056C>T (p.Ser2352=)
|
rs149697299
|
0.00015
|
NM_000138.5(FBN1):c.863-3C>T
|
rs955955089
|
0.00015
|
NM_000138.5(FBN1):c.1571C>T (p.Thr524Met)
|
rs370575495
|
0.00014
|
NM_000138.5(FBN1):c.3936C>T (p.Ser1312=)
|
rs779913610
|
0.00014
|
NM_000138.5(FBN1):c.3964+19A>G
|
rs181287036
|
0.00014
|
NM_000138.5(FBN1):c.4001G>A (p.Gly1334Asp)
|
rs191989961
|
0.00014
|
NM_000138.5(FBN1):c.5917+3A>G
|
rs202158568
|
0.00014
|
NM_000138.5(FBN1):c.6288C>T (p.Cys2096=)
|
rs144822241
|
0.00014
|
NM_000138.5(FBN1):c.736+9G>A
|
rs368241741
|
0.00014
|
NM_000138.5(FBN1):c.7455T>G (p.Asp2485Glu)
|
rs377272529
|
0.00014
|
NM_000138.5(FBN1):c.7661G>A (p.Arg2554Gln)
|
rs199522781
|
0.00014
|
NM_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_000138.5(FBN1):c.185G>A (p.Arg62His)
|
rs145942328
|
0.00012
|
NM_000138.5(FBN1):c.3798T>C (p.Tyr1266=)
|
rs112987543
|
0.00012
|
NM_000138.5(FBN1):c.6576C>T (p.Cys2192=)
|
rs369058466
|
0.00012
|
NM_000138.5(FBN1):c.*2037T>C
|
rs544842106
|
0.00011
|
NM_000138.5(FBN1):c.*2556G>A
|
rs886051221
|
0.00011
|
NM_000138.5(FBN1):c.1323A>G (p.Pro441=)
|
rs202030761
|
0.00011
|
NM_000138.5(FBN1):c.1821T>C (p.Asp607=)
|
rs149133920
|
0.00011
|
NM_000138.5(FBN1):c.1838-6C>T
|
rs374629233
|
0.00011
|
NM_000138.5(FBN1):c.2289C>T (p.Cys763=)
|
rs181311020
|
0.00011
|
NM_000138.5(FBN1):c.3964+12C>T
|
rs371986991
|
0.00011
|
NM_000138.5(FBN1):c.7560G>A (p.Thr2520=)
|
rs760425899
|
0.00011
|
NM_000138.5(FBN1):c.2094G>T (p.Pro698=)
|
rs144775475
|
0.00010
|
NM_000138.5(FBN1):c.2892C>T (p.Asp964=)
|
rs116945525
|
0.00010
|
NM_000138.5(FBN1):c.3082+9T>A
|
rs746303949
|
0.00010
|
NM_000138.5(FBN1):c.*1981C>T
|
rs1054860347
|
0.00009
|
NM_000138.5(FBN1):c.*2044C>T
|
rs561911965
|
0.00009
|
NM_000138.5(FBN1):c.1345G>A (p.Val449Ile)
|
rs139058991
|
0.00009
|
NM_000138.5(FBN1):c.1588+20C>T
|
rs376488308
|
0.00009
|
NM_000138.5(FBN1):c.2232G>C (p.Gly744=)
|
rs762745991
|
0.00009
|
NM_000138.5(FBN1):c.3337+11G>A
|
rs368726848
|
0.00009
|
NM_000138.5(FBN1):c.396T>C (p.Asp132=)
|
rs147481356
|
0.00009
|
NM_000138.5(FBN1):c.4342G>A (p.Asp1448Asn)
|
rs371377334
|
0.00009
|
NM_000138.5(FBN1):c.5225-13T>G
|
rs367786211
|
0.00009
|
NM_000138.5(FBN1):c.5296+12C>T
|
rs566030960
|
0.00009
|
NM_000138.5(FBN1):c.7266A>G (p.Arg2422=)
|
rs532737688
|
0.00009
|
NM_000138.5(FBN1):c.7660C>T (p.Arg2554Trp)
|
rs369294972
|
0.00009
|
NM_000138.5(FBN1):c.7846A>G (p.Ile2616Val)
|
rs143677764
|
0.00009
|
NM_000138.5(FBN1):c.8141C>T (p.Ala2714Val)
|
rs772795413
|
0.00009
|
NM_000138.5(FBN1):c.942A>G (p.Lys314=)
|
rs376965275
|
0.00009
|
NM_000138.5(FBN1):c.2079G>A (p.Gly693=)
|
rs374174497
|
0.00008
|
NM_000138.5(FBN1):c.2294-14C>G
|
rs201446948
|
0.00008
|
NM_000138.5(FBN1):c.2928C>T (p.Arg976=)
|
rs761997019
|
0.00008
|
NM_000138.5(FBN1):c.3171C>T (p.Ser1057=)
|
rs144400069
|
0.00008
|
NM_000138.5(FBN1):c.3226A>C (p.Ile1076Leu)
|
rs201156527
|
0.00008
|
NM_000138.5(FBN1):c.3429C>A (p.Gly1143=)
|
rs151232024
|
0.00008
|
NM_000138.5(FBN1):c.5297-19A>G
|
rs375665466
|
0.00008
|
NM_000138.5(FBN1):c.6038-15_6038-14del
|
rs752198920
|
0.00008
|
NM_000138.5(FBN1):c.7379A>G (p.Lys2460Arg)
|
rs144189837
|
0.00008
|
NM_000138.5(FBN1):c.*254C>T
|
rs886051243
|
0.00007
|
NM_000138.5(FBN1):c.1327+12A>G
|
rs764788168
|
0.00007
|
NM_000138.5(FBN1):c.1363T>C (p.Leu455=)
|
rs557954342
|
0.00007
|
NM_000138.5(FBN1):c.2678-3C>T
|
rs747274959
|
0.00007
|
NM_000138.5(FBN1):c.2746G>A (p.Val916Met)
|
rs373644734
|
0.00007
|
NM_000138.5(FBN1):c.2772C>T (p.Gly924=)
|
rs539699143
|
0.00007
|
NM_000138.5(FBN1):c.4582+3A>G
|
rs777845323
|
0.00007
|
NM_000138.5(FBN1):c.5963C>T (p.Thr1988Ile)
|
rs142912485
|
0.00007
|
NM_000138.5(FBN1):c.6372A>G (p.Ser2124=)
|
rs397515832
|
0.00007
|
NM_000138.5(FBN1):c.6942C>T (p.Tyr2314=)
|
rs372967546
|
0.00007
|
NM_000138.5(FBN1):c.*2592T>C
|
rs752936528
|
0.00006
|
NM_000138.5(FBN1):c.124G>C (p.Ala42Pro)
|
rs377722423
|
0.00006
|
NM_000138.5(FBN1):c.1316G>A (p.Arg439Gln)
|
rs568810058
|
0.00006
|
NM_000138.5(FBN1):c.1961-14T>C
|
rs373918202
|
0.00006
|
NM_000138.5(FBN1):c.2434G>A (p.Glu812Lys)
|
rs201778577
|
0.00006
|
NM_000138.5(FBN1):c.273T>C (p.Asp91=)
|
rs375450755
|
0.00006
|
NM_000138.5(FBN1):c.2793G>T (p.Gly931=)
|
rs775785545
|
0.00006
|
NM_000138.5(FBN1):c.2835C>T (p.Ala945=)
|
rs140389544
|
0.00006
|
NM_000138.5(FBN1):c.2901C>T (p.Cys967=)
|
rs755610084
|
0.00006
|
NM_000138.5(FBN1):c.2921G>A (p.Arg974His)
|
rs763094223
|
0.00006
|
NM_000138.5(FBN1):c.3013G>A (p.Glu1005Lys)
|
rs564713154
|
0.00006
|
NM_000138.5(FBN1):c.3082+13G>A
|
rs757559866
|
0.00006
|
NM_000138.5(FBN1):c.3197G>C (p.Arg1066Thr)
|
rs376659156
|
0.00006
|
NM_000138.5(FBN1):c.3464-6C>T
|
rs375596551
|
0.00006
|
NM_000138.5(FBN1):c.4150A>G (p.Met1384Val)
|
rs775543440
|
0.00006
|
NM_000138.5(FBN1):c.4337-14T>C
|
rs78068079
|
0.00006
|
NM_000138.5(FBN1):c.4875C>G (p.Thr1625=)
|
rs140628
|
0.00006
|
NM_000138.5(FBN1):c.4986A>G (p.Thr1662=)
|
rs753705796
|
0.00006
|
NM_000138.5(FBN1):c.4998C>G (p.Thr1666=)
|
rs141925790
|
0.00006
|
NM_000138.5(FBN1):c.5066-13dup
|
rs774517414
|
0.00006
|
NM_000138.5(FBN1):c.5097C>T (p.Tyr1699=)
|
rs368979510
|
0.00006
|
NM_000138.5(FBN1):c.5516A>T (p.Tyr1839Phe)
|
rs758725993
|
0.00006
|
NM_000138.5(FBN1):c.5573A>G (p.Asn1858Ser)
|
rs751472490
|
0.00006
|
NM_000138.5(FBN1):c.5672-15C>G
|
rs776163620
|
0.00006
|
NM_000138.5(FBN1):c.6164-3C>T
|
rs571365493
|
0.00006
|
NM_000138.5(FBN1):c.6302C>T (p.Thr2101Met)
|
rs200816828
|
0.00006
|
NM_000138.5(FBN1):c.6577G>A (p.Glu2193Lys)
|
rs201361628
|
0.00006
|
NM_000138.5(FBN1):c.6834C>T (p.Pro2278=)
|
rs397515839
|
0.00006
|
NM_000138.5(FBN1):c.7099G>A (p.Gly2367Arg)
|
rs368978109
|
0.00006
|
NM_000138.5(FBN1):c.7204+7C>G
|
rs371763964
|
0.00006
|
NM_000138.5(FBN1):c.7412C>G (p.Pro2471Arg)
|
rs193922233
|
0.00006
|
NM_000138.5(FBN1):c.7516G>A (p.Gly2506Ser)
|
rs756295016
|
0.00006
|
NM_000138.5(FBN1):c.7902C>T (p.Pro2634=)
|
rs138621371
|
0.00006
|
NM_000138.5(FBN1):c.7999G>A (p.Glu2667Lys)
|
rs149062442
|
0.00006
|
NM_000138.5(FBN1):c.8071G>A (p.Gly2691Ser)
|
rs145105768
|
0.00006
|
NM_000138.5(FBN1):c.8300A>G (p.Asn2767Ser)
|
rs536503540
|
0.00006
|
NM_000138.5(FBN1):c.8310C>T (p.His2770=)
|
rs112189340
|
0.00006
|
NM_000138.5(FBN1):c.8311G>A (p.Val2771Ile)
|
rs193922244
|
0.00006
|
NM_000138.5(FBN1):c.988+20G>A
|
rs375760654
|
0.00006
|
NM_000138.5(FBN1):c.1272A>G (p.Gln424=)
|
rs763710172
|
0.00005
|
NM_000138.5(FBN1):c.155C>T (p.Ala52Val)
|
rs1258637670
|
0.00005
|
NM_000138.5(FBN1):c.2445T>G (p.Pro815=)
|
rs368004231
|
0.00005
|
NM_000138.5(FBN1):c.247+10T>C
|
rs367618012
|
0.00005
|
NM_000138.5(FBN1):c.2927G>A (p.Arg976His)
|
rs140954477
|
0.00005
|
NM_000138.5(FBN1):c.346+16C>T
|
rs369090026
|
0.00005
|
NM_000138.5(FBN1):c.4162C>T (p.Arg1388Cys)
|
rs770860280
|
0.00005
|
NM_000138.5(FBN1):c.466A>C (p.Asn156His)
|
rs746352371
|
0.00005
|
NM_000138.5(FBN1):c.4746A>G (p.Thr1582=)
|
rs794727601
|
0.00005
|
NM_000138.5(FBN1):c.6699C>T (p.Pro2233=)
|
rs372386014
|
0.00005
|
NM_000138.5(FBN1):c.6728G>A (p.Arg2243Lys)
|
rs769589759
|
0.00005
|
NM_000138.5(FBN1):c.6852T>C (p.Pro2284=)
|
rs201226058
|
0.00005
|
NM_000138.5(FBN1):c.7051G>A (p.Gly2351Ser)
|
rs746127796
|
0.00005
|
NM_000138.5(FBN1):c.7743C>T (p.Cys2581=)
|
rs765772116
|
0.00005
|
NM_000138.5(FBN1):c.7820-4G>A
|
rs750036723
|
0.00005
|
NM_000138.5(FBN1):c.7964C>T (p.Ala2655Val)
|
rs202240409
|
0.00005
|
NM_000138.5(FBN1):c.7965G>A (p.Ala2655=)
|
rs199887650
|
0.00005
|
NM_000138.5(FBN1):c.8149G>A (p.Glu2717Lys)
|
rs187553035
|
0.00005
|
NM_000138.5(FBN1):c.*1325T>C
|
rs569152308
|
0.00004
|
NM_000138.5(FBN1):c.*2221A>G
|
rs886051226
|
0.00004
|
NM_000138.5(FBN1):c.*300T>C
|
rs1011876253
|
0.00004
|
NM_000138.5(FBN1):c.1242T>G (p.Pro414=)
|
rs371929738
|
0.00004
|
NM_000138.5(FBN1):c.1290A>G (p.Pro430=)
|
rs749526018
|
0.00004
|
NM_000138.5(FBN1):c.1602T>C (p.Cys534=)
|
rs377386372
|
0.00004
|
NM_000138.5(FBN1):c.1837+4C>T
|
rs199950267
|
0.00004
|
NM_000138.5(FBN1):c.1880G>A (p.Arg627His)
|
rs746073643
|
0.00004
|
NM_000138.5(FBN1):c.1884C>T (p.Cys628=)
|
rs150421653
|
0.00004
|
NM_000138.5(FBN1):c.1885G>A (p.Val629Ile)
|
rs140503215
|
0.00004
|
NM_000138.5(FBN1):c.1951G>A (p.Val651Met)
|
rs1335043561
|
0.00004
|
NM_000138.5(FBN1):c.2075T>A (p.Phe692Tyr)
|
rs955639059
|
0.00004
|
NM_000138.5(FBN1):c.2168-19G>T
|
rs777612162
|
0.00004
|
NM_000138.5(FBN1):c.2168-6G>A
|
rs200924505
|
0.00004
|
NM_000138.5(FBN1):c.2290G>A (p.Val764Ile)
|
rs769641351
|
0.00004
|
NM_000138.5(FBN1):c.2419+13T>A
|
rs372885314
|
0.00004
|
NM_000138.5(FBN1):c.2596A>G (p.Ile866Val)
|
rs794728329
|
0.00004
|
NM_000138.5(FBN1):c.2600A>G (p.Asn867Ser)
|
rs145464311
|
0.00004
|
NM_000138.5(FBN1):c.2637C>T (p.Leu879=)
|
rs202163602
|
0.00004
|
NM_000138.5(FBN1):c.2753C>G (p.Pro918Arg)
|
rs557798071
|
0.00004
|
NM_000138.5(FBN1):c.3145G>A (p.Gly1049Ser)
|
rs778181932
|
0.00004
|
NM_000138.5(FBN1):c.3246C>T (p.Gly1082=)
|
rs138855754
|
0.00004
|
NM_000138.5(FBN1):c.3295G>A (p.Glu1099Lys)
|
rs763485521
|
0.00004
|
NM_000138.5(FBN1):c.3415G>C (p.Glu1139Gln)
|
rs780972853
|
0.00004
|
NM_000138.5(FBN1):c.3462C>T (p.Ile1154=)
|
rs144339604
|
0.00004
|
NM_000138.5(FBN1):c.347-15T>C
|
rs749417882
|
0.00004
|
NM_000138.5(FBN1):c.3503A>G (p.Asn1168Ser)
|
rs776667707
|
0.00004
|
NM_000138.5(FBN1):c.350A>G (p.Gln117Arg)
|
rs777826174
|
0.00004
|
NM_000138.5(FBN1):c.3837A>G (p.Val1279=)
|
rs59007872
|
0.00004
|
NM_000138.5(FBN1):c.3838+20T>C
|
rs772287702
|
0.00004
|
NM_000138.5(FBN1):c.3896C>T (p.Thr1299Met)
|
rs774851476
|
0.00004
|
NM_000138.5(FBN1):c.405A>G (p.Leu135=)
|
rs187254268
|
0.00004
|
NM_000138.5(FBN1):c.4095C>T (p.Asp1365=)
|
rs375402043
|
0.00004
|
NM_000138.5(FBN1):c.4163G>A (p.Arg1388His)
|
rs749196340
|
0.00004
|
NM_000138.5(FBN1):c.4176G>A (p.Lys1392=)
|
rs141633998
|
0.00004
|
NM_000138.5(FBN1):c.4337-9C>T
|
rs201001403
|
0.00004
|
NM_000138.5(FBN1):c.4371C>T (p.Val1457=)
|
rs781641370
|
0.00004
|
NM_000138.5(FBN1):c.4804G>A (p.Val1602Ile)
|
rs780957696
|
0.00004
|
NM_000138.5(FBN1):c.492T>C (p.Asn164=)
|
rs778007582
|
0.00004
|
NM_000138.5(FBN1):c.538+4A>G
|
rs375721252
|
0.00004
|
NM_000138.5(FBN1):c.5442C>T (p.Asn1814=)
|
rs397515822
|
0.00004
|
NM_000138.5(FBN1):c.5717G>A (p.Arg1906Gln)
|
rs774798866
|
0.00004
|
NM_000138.5(FBN1):c.5724A>G (p.Thr1908=)
|
rs141219664
|
0.00004
|
NM_000138.5(FBN1):c.5842A>G (p.Ile1948Val)
|
rs766850261
|
0.00004
|
NM_000138.5(FBN1):c.5921T>C (p.Ile1974Thr)
|
rs765878996
|
0.00004
|
NM_000138.5(FBN1):c.6052G>A (p.Val2018Ile)
|
rs363802
|
0.00004
|
NM_000138.5(FBN1):c.6055G>A (p.Glu2019Lys)
|
rs377149130
|
0.00004
|
NM_000138.5(FBN1):c.6497-11G>A
|
rs183200505
|
0.00004
|
NM_000138.5(FBN1):c.6911A>G (p.Asn2304Ser)
|
rs375939213
|
0.00004
|
NM_000138.5(FBN1):c.7210G>A (p.Asp2404Asn)
|
rs530059069
|
0.00004
|
NM_000138.5(FBN1):c.7230C>T (p.His2410=)
|
rs193922231
|
0.00004
|
NM_000138.5(FBN1):c.7700-13G>C
|
rs775509707
|
0.00004
|
NM_000138.5(FBN1):c.7819+15C>T
|
rs772164887
|
0.00004
|
NM_000138.5(FBN1):c.8004C>T (p.Gly2668=)
|
rs371285755
|
0.00004
|
NM_000138.5(FBN1):c.8179G>A (p.Gly2727Ser)
|
rs758748297
|
0.00004
|
NM_000138.5(FBN1):c.8299A>G (p.Asn2767Asp)
|
rs771437236
|
0.00004
|
NM_000138.5(FBN1):c.8308C>T (p.His2770Tyr)
|
rs774658482
|
0.00004
|
NM_000138.5(FBN1):c.8542A>C (p.Lys2848Gln)
|
rs199846998
|
0.00004
|
NM_000138.5(FBN1):c.980G>C (p.Arg327Thr)
|
rs775206410
|
0.00004
|
NM_000138.5(FBN1):c.985A>G (p.Ile329Val)
|
rs370955295
|
0.00004
|
NM_000138.5(FBN1):c.*1375A>C
|
rs1049315076
|
0.00003
|
NM_000138.5(FBN1):c.*1619T>A
|
rs374297351
|
0.00003
|
NM_000138.5(FBN1):c.*1672G>A
|
rs886051231
|
0.00003
|
NM_000138.5(FBN1):c.*845C>T
|
rs1022238055
|
0.00003
|
NM_000138.5(FBN1):c.1158C>T (p.Asn386=)
|
rs368737502
|
0.00003
|
NM_000138.5(FBN1):c.1277C>T (p.Pro426Leu)
|
rs146044644
|
0.00003
|
NM_000138.5(FBN1):c.139G>A (p.Gly47Ser)
|
rs762400500
|
0.00003
|
NM_000138.5(FBN1):c.164+5A>G
|
rs397515760
|
0.00003
|
NM_000138.5(FBN1):c.1668G>A (p.Val556=)
|
rs761662654
|
0.00003
|
NM_000138.5(FBN1):c.1747C>T (p.Leu583Phe)
|
rs767293952
|
0.00003
|
NM_000138.5(FBN1):c.1992A>T (p.Gly664=)
|
rs183929553
|
0.00003
|
NM_000138.5(FBN1):c.2056G>A (p.Ala686Thr)
|
rs377621293
|
0.00003
|
NM_000138.5(FBN1):c.2142G>A (p.Gly714=)
|
rs1423523072
|
0.00003
|
NM_000138.5(FBN1):c.2658G>A (p.Pro886=)
|
rs193922192
|
0.00003
|
NM_000138.5(FBN1):c.2728+20A>C
|
rs765993846
|
0.00003
|
NM_000138.5(FBN1):c.2729-8C>G
|
rs775257418
|
0.00003
|
NM_000138.5(FBN1):c.2735A>G (p.Asp912Gly)
|
rs754919275
|
0.00003
|
NM_000138.5(FBN1):c.2745A>G (p.Glu915=)
|
rs1285398012
|
0.00003
|
NM_000138.5(FBN1):c.2930T>G (p.Met977Arg)
|
rs199682686
|
0.00003
|
NM_000138.5(FBN1):c.3216C>T (p.Asp1072=)
|
rs757177349
|
0.00003
|
NM_000138.5(FBN1):c.3223C>T (p.Arg1075Cys)
|
rs186805359
|
0.00003
|
NM_000138.5(FBN1):c.3389A>G (p.His1130Arg)
|
rs747189975
|
0.00003
|
NM_000138.5(FBN1):c.3455C>T (p.Ala1152Val)
|
rs539103389
|
0.00003
|
NM_000138.5(FBN1):c.3480G>A (p.Glu1160=)
|
rs149625173
|
0.00003
|
NM_000138.5(FBN1):c.3523A>G (p.Ile1175Val)
|
rs756754760
|
0.00003
|
NM_000138.5(FBN1):c.3610A>G (p.Met1204Val)
|
rs775707895
|
0.00003
|
NM_000138.5(FBN1):c.378A>G (p.Gly126=)
|
rs149611106
|
0.00003
|
NM_000138.5(FBN1):c.3906A>G (p.Ser1302=)
|
rs756186103
|
0.00003
|
NM_000138.5(FBN1):c.4210+10C>T
|
rs200548889
|
0.00003
|
NM_000138.5(FBN1):c.4337-5C>G
|
rs370959127
|
0.00003
|
NM_000138.5(FBN1):c.4405C>T (p.Arg1469Cys)
|
rs587782946
|
0.00003
|
NM_000138.5(FBN1):c.4413G>A (p.Glu1471=)
|
rs756143911
|
0.00003
|
NM_000138.5(FBN1):c.442+15G>T
|
rs369470506
|
0.00003
|
NM_000138.5(FBN1):c.442+19T>C
|
rs757466131
|
0.00003
|
NM_000138.5(FBN1):c.442+1G>A
|
rs868403743
|
0.00003
|
NM_000138.5(FBN1):c.4460-9C>T
|
rs372753740
|
0.00003
|
NM_000138.5(FBN1):c.4583-11A>G
|
rs780024463
|
0.00003
|
NM_000138.5(FBN1):c.4650C>T (p.Ser1550=)
|
rs933962712
|
0.00003
|
NM_000138.5(FBN1):c.4719T>C (p.Pro1573=)
|
rs761947423
|
0.00003
|
NM_000138.5(FBN1):c.4803C>T (p.Thr1601=)
|
rs747757998
|
0.00003
|
NM_000138.5(FBN1):c.5066-7C>G
|
rs377369765
|
0.00003
|
NM_000138.5(FBN1):c.5311C>T (p.Arg1771Trp)
|
rs767884599
|
0.00003
|
NM_000138.5(FBN1):c.5466C>T (p.Ala1822=)
|
rs947248042
|
0.00003
|
NM_000138.5(FBN1):c.5495G>A (p.Arg1832His)
|
rs764203302
|
0.00003
|
NM_000138.5(FBN1):c.5519G>A (p.Arg1840His)
|
rs369482365
|
0.00003
|
NM_000138.5(FBN1):c.5671+7A>G
|
rs751170564
|
0.00003
|
NM_000138.5(FBN1):c.5841C>T (p.Cys1947=)
|
rs151181806
|
0.00003
|
NM_000138.5(FBN1):c.6044A>T (p.Asp2015Val)
|
rs746719632
|
0.00003
|
NM_000138.5(FBN1):c.6189G>A (p.Ala2063=)
|
rs375624881
|
0.00003
|
NM_000138.5(FBN1):c.6314-16A>G
|
rs759468929
|
0.00003
|
NM_000138.5(FBN1):c.6314-17G>A
|
rs370991477
|
0.00003
|
NM_000138.5(FBN1):c.6338A>T (p.Tyr2113Phe)
|
rs363816
|
0.00003
|
NM_000138.5(FBN1):c.6623A>G (p.Asn2208Ser)
|
rs146063839
|
0.00003
|
NM_000138.5(FBN1):c.6819G>A (p.Met2273Ile)
|
rs778027769
|
0.00003
|
NM_000138.5(FBN1):c.6890C>T (p.Thr2297Met)
|
rs773785908
|
0.00003
|
NM_000138.5(FBN1):c.6903C>T (p.Ile2301=)
|
rs146930301
|
0.00003
|
NM_000138.5(FBN1):c.7241G>A (p.Arg2414Gln)
|
rs143863014
|
0.00003
|
NM_000138.5(FBN1):c.7395T>C (p.Ser2465=)
|
rs774341590
|
0.00003
|
NM_000138.5(FBN1):c.7430A>G (p.Gln2477Arg)
|
rs747777955
|
0.00003
|
NM_000138.5(FBN1):c.7451A>G (p.Lys2484Arg)
|
rs374630707
|
0.00003
|
NM_000138.5(FBN1):c.7677T>C (p.Asp2559=)
|
rs182358927
|
0.00003
|
NM_000138.5(FBN1):c.7680G>T (p.Gln2560His)
|
rs780206348
|
0.00003
|
NM_000138.5(FBN1):c.7684G>A (p.Gly2562Ser)
|
rs1397580172
|
0.00003
|
NM_000138.5(FBN1):c.7842T>G (p.Ala2614=)
|
rs764496589
|
0.00003
|
NM_000138.5(FBN1):c.7872C>T (p.Asn2624=)
|
rs539185798
|
0.00003
|
NM_000138.5(FBN1):c.8069T>G (p.Met2690Arg)
|
rs747476726
|
0.00003
|
NM_000138.5(FBN1):c.8202C>T (p.Asn2734=)
|
rs113904256
|
0.00003
|
NM_000138.5(FBN1):c.8219A>G (p.Asn2740Ser)
|
rs193922242
|
0.00003
|
NM_000138.5(FBN1):c.8224G>A (p.Glu2742Lys)
|
rs750199580
|
0.00003
|
NM_000138.5(FBN1):c.8433G>A (p.Gly2811=)
|
rs771873118
|
0.00003
|
NM_000138.5(FBN1):c.843A>C (p.Glu281Asp)
|
rs772218768
|
0.00003
|
NM_000138.5(FBN1):c.8616A>G (p.Ter2872=)
|
rs374499193
|
0.00003
|
NM_000138.5(FBN1):c.885T>G (p.Ile295Met)
|
rs151056963
|
0.00003
|
NM_000138.5(FBN1):c.*1249A>G
|
rs1456413075
|
0.00002
|
NM_000138.5(FBN1):c.*1398G>C
|
rs886051234
|
0.00002
|
NM_000138.5(FBN1):c.*1484C>T
|
rs533502309
|
0.00002
|
NM_000138.5(FBN1):c.*253A>T
|
rs539383558
|
0.00002
|
NM_000138.5(FBN1):c.1370G>A (p.Arg457His)
|
rs141217134
|
0.00002
|
NM_000138.5(FBN1):c.1468+4C>T
|
rs765579667
|
0.00002
|
NM_000138.5(FBN1):c.1547G>A (p.Arg516Gln)
|
rs775489067
|
0.00002
|
NM_000138.5(FBN1):c.1562G>A (p.Ser521Asn)
|
rs749253325
|
0.00002
|
NM_000138.5(FBN1):c.1566A>G (p.Thr522=)
|
rs531264662
|
0.00002
|
NM_000138.5(FBN1):c.164+9A>G
|
rs773997652
|
0.00002
|
NM_000138.5(FBN1):c.1692A>T (p.Thr564=)
|
rs1323581379
|
0.00002
|
NM_000138.5(FBN1):c.1961-7T>C
|
rs878853675
|
0.00002
|
NM_000138.5(FBN1):c.19C>T (p.Leu7=)
|
rs139161583
|
0.00002
|
NM_000138.5(FBN1):c.2093C>T (p.Pro698Leu)
|
rs764827921
|
0.00002
|
NM_000138.5(FBN1):c.2154G>A (p.Thr718=)
|
rs377033515
|
0.00002
|
NM_000138.5(FBN1):c.2344A>G (p.Arg782Gly)
|
rs752891726
|
0.00002
|
NM_000138.5(FBN1):c.2419+7C>T
|
rs773155136
|
0.00002
|
NM_000138.5(FBN1):c.2502T>A (p.Ser834=)
|
rs754372754
|
0.00002
|
NM_000138.5(FBN1):c.2547C>G (p.Ile849Met)
|
rs778258207
|
0.00002
|
NM_000138.5(FBN1):c.2582G>A (p.Arg861Gln)
|
rs794728328
|
0.00002
|
NM_000138.5(FBN1):c.2678-14G>A
|
rs369475895
|
0.00002
|
NM_000138.5(FBN1):c.2854+5A>G
|
rs762989672
|
0.00002
|
NM_000138.5(FBN1):c.2855-10C>T
|
rs1044021136
|
0.00002
|
NM_000138.5(FBN1):c.2878C>T (p.Leu960=)
|
rs1469750878
|
0.00002
|
NM_000138.5(FBN1):c.2883G>T (p.Arg961Ser)
|
rs142964120
|
0.00002
|
NM_000138.5(FBN1):c.2893G>C (p.Glu965Gln)
|
rs748905831
|
0.00002
|
NM_000138.5(FBN1):c.2911A>G (p.Ile971Val)
|
rs766660415
|
0.00002
|
NM_000138.5(FBN1):c.2949C>T (p.Ser983=)
|
rs769307676
|
0.00002
|
NM_000138.5(FBN1):c.2950G>A (p.Val984Ile)
|
rs747713929
|
0.00002
|
NM_000138.5(FBN1):c.2980G>A (p.Glu994Lys)
|
rs780301913
|
0.00002
|
NM_000138.5(FBN1):c.3026C>G (p.Pro1009Arg)
|
rs148076256
|
0.00002
|
NM_000138.5(FBN1):c.3142A>G (p.Ile1048Val)
|
rs2229324
|
0.00002
|
NM_000138.5(FBN1):c.3359A>T (p.Asp1120Val)
|
rs1183556572
|
0.00002
|
NM_000138.5(FBN1):c.3374G>A (p.Arg1125Gln)
|
rs768831064
|
0.00002
|
NM_000138.5(FBN1):c.3403A>G (p.Ser1135Gly)
|
rs749255004
|
0.00002
|
NM_000138.5(FBN1):c.3410G>A (p.Arg1137His)
|
rs137854456
|
0.00002
|
NM_000138.5(FBN1):c.3446A>G (p.Asn1149Ser)
|
rs147584221
|
0.00002
|
NM_000138.5(FBN1):c.3453C>T (p.Ser1151=)
|
rs748759748
|
0.00002
|
NM_000138.5(FBN1):c.3456G>A (p.Ala1152=)
|
rs777442762
|
0.00002
|
NM_000138.5(FBN1):c.346+6T>G
|
rs371159129
|
0.00002
|
NM_000138.5(FBN1):c.347-16C>G
|
rs752093190
|
0.00002
|
NM_000138.5(FBN1):c.3513C>T (p.Cys1171=)
|
rs775417975
|
0.00002
|
NM_000138.5(FBN1):c.3777A>C (p.Gly1259=)
|
rs1404903351
|
0.00002
|
NM_000138.5(FBN1):c.3785G>A (p.Arg1262Lys)
|
rs371103773
|
0.00002
|
NM_000138.5(FBN1):c.3937G>A (p.Gly1313Ser)
|
rs1156984408
|
0.00002
|
NM_000138.5(FBN1):c.4026A>G (p.Thr1342=)
|
rs752154066
|
0.00002
|
NM_000138.5(FBN1):c.4088-5A>G
|
rs534913868
|
0.00002
|
NM_000138.5(FBN1):c.4337-3A>C
|
rs770551687
|
0.00002
|
NM_000138.5(FBN1):c.4358C>T (p.Pro1453Leu)
|
rs368650399
|
0.00002
|
NM_000138.5(FBN1):c.4406G>A (p.Arg1469His)
|
rs397515808
|
0.00002
|
NM_000138.5(FBN1):c.4488G>A (p.Thr1496=)
|
rs370494288
|
0.00002
|
NM_000138.5(FBN1):c.4665T>C (p.Val1555=)
|
rs191569116
|
0.00002
|
NM_000138.5(FBN1):c.467A>G (p.Asn156Ser)
|
rs779490973
|
0.00002
|
NM_000138.5(FBN1):c.468T>C (p.Asn156=)
|
rs757577615
|
0.00002
|
NM_000138.5(FBN1):c.4698G>A (p.Leu1566=)
|
rs143544916
|
0.00002
|
NM_000138.5(FBN1):c.4748-6C>T
|
rs376611471
|
0.00002
|
NM_000138.5(FBN1):c.4842A>G (p.Pro1614=)
|
rs779362502
|
0.00002
|
NM_000138.5(FBN1):c.4999G>A (p.Val1667Ile)
|
rs140626
|
0.00002
|
NM_000138.5(FBN1):c.5123G>A (p.Gly1708Glu)
|
rs758600004
|
0.00002
|
NM_000138.5(FBN1):c.5180G>A (p.Arg1727Gln)
|
rs780993677
|
0.00002
|
NM_000138.5(FBN1):c.5190C>T (p.Asn1730=)
|
rs765997414
|
0.00002
|
NM_000138.5(FBN1):c.5292C>T (p.Pro1764=)
|
rs111756438
|
0.00002
|
NM_000138.5(FBN1):c.5423-5C>T
|
rs368750818
|
0.00002
|
NM_000138.5(FBN1):c.5443G>A (p.Gly1815Ser)
|
rs745680336
|
0.00002
|
NM_000138.5(FBN1):c.5463C>T (p.Asn1821=)
|
rs753966383
|
0.00002
|
NM_000138.5(FBN1):c.5467G>A (p.Glu1823Lys)
|
rs567397762
|
0.00002
|
NM_000138.5(FBN1):c.5518C>T (p.Arg1840Cys)
|
rs765387131
|
0.00002
|
NM_000138.5(FBN1):c.5788+19G>A
|
rs758996081
|
0.00002
|
NM_000138.5(FBN1):c.5899G>T (p.Asp1967Tyr)
|
rs776999627
|
0.00002
|
NM_000138.5(FBN1):c.5918-12T>G
|
rs751115639
|
0.00002
|
NM_000138.5(FBN1):c.6007G>A (p.Gly2003Arg)
|
rs1413737899
|
0.00002
|
NM_000138.5(FBN1):c.601G>A (p.Gly201Arg)
|
rs748358548
|
0.00002
|
NM_000138.5(FBN1):c.6095C>G (p.Thr2032Ser)
|
rs756506237
|
0.00002
|
NM_000138.5(FBN1):c.6129G>C (p.Gly2043=)
|
rs766473100
|
0.00002
|
NM_000138.5(FBN1):c.6180C>T (p.Tyr2060=)
|
rs974604498
|
0.00002
|
NM_000138.5(FBN1):c.619A>T (p.Thr207Ser)
|
rs1464303112
|
0.00002
|
NM_000138.5(FBN1):c.6379+11T>C
|
rs370322263
|
0.00002
|
NM_000138.5(FBN1):c.6379+4A>G
|
rs780370404
|
0.00002
|
NM_000138.5(FBN1):c.6387C>T (p.Asp2129=)
|
rs147342485
|
0.00002
|
NM_000138.5(FBN1):c.6534T>A (p.Asn2178Lys)
|
rs770257902
|
0.00002
|
NM_000138.5(FBN1):c.6616+5A>G
|
rs1381778697
|
0.00002
|
NM_000138.5(FBN1):c.6732G>A (p.Met2244Ile)
|
rs780960909
|
0.00002
|
NM_000138.5(FBN1):c.6844C>T (p.Arg2282Trp)
|
rs765205164
|
0.00002
|
NM_000138.5(FBN1):c.6872-12A>G
|
rs568325297
|
0.00002
|
NM_000138.5(FBN1):c.6998-7C>T
|
rs764823572
|
0.00002
|
NM_000138.5(FBN1):c.7231G>A (p.Asp2411Asn)
|
rs775558051
|
0.00002
|
NM_000138.5(FBN1):c.7283T>C (p.Ile2428Thr)
|
rs565474071
|
0.00002
|
NM_000138.5(FBN1):c.7400A>G (p.Gln2467Arg)
|
rs770839761
|
0.00002
|
NM_000138.5(FBN1):c.7454-6T>C
|
rs1253572031
|
0.00002
|
NM_000138.5(FBN1):c.7501G>C (p.Val2501Leu)
|
rs371110611
|
0.00002
|
NM_000138.5(FBN1):c.7524A>G (p.Thr2508=)
|
rs201992942
|
0.00002
|
NM_000138.5(FBN1):c.7533T>C (p.Cys2511=)
|
rs750331217
|
0.00002
|
NM_000138.5(FBN1):c.7575C>T (p.Asn2525=)
|
rs759021474
|
0.00002
|
NM_000138.5(FBN1):c.7683C>T (p.Thr2561=)
|
rs758353830
|
0.00002
|
NM_000138.5(FBN1):c.7701C>T (p.Asp2567=)
|
rs368054842
|
0.00002
|
NM_000138.5(FBN1):c.7727G>A (p.Arg2576His)
|
rs369888822
|
0.00002
|
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)
|
rs727503054
|
0.00002
|
NM_000138.5(FBN1):c.8130C>T (p.Leu2710=)
|
rs372105662
|
0.00002
|
NM_000138.5(FBN1):c.8227-10G>A
|
rs765093559
|
0.00002
|
NM_000138.5(FBN1):c.8327G>A (p.Arg2776Gln)
|
rs748327743
|
0.00002
|
NM_000138.5(FBN1):c.832A>G (p.Lys278Glu)
|
rs775505429
|
0.00002
|
NM_000138.5(FBN1):c.8386G>A (p.Glu2796Lys)
|
rs112310699
|
0.00002
|
NM_000138.5(FBN1):c.8533C>T (p.Leu2845=)
|
rs767060377
|
0.00002
|
NM_000138.5(FBN1):c.8G>C (p.Arg3Pro)
|
rs149929989
|
0.00002
|
NM_000138.4(FBN1):c.-319G>T
|
rs886051256
|
0.00001
|
NM_000138.5(FBN1):c.*1437G>A
|
rs549498511
|
0.00001
|
NM_000138.5(FBN1):c.*202_*203del
|
rs766125141
|
0.00001
|
NM_000138.5(FBN1):c.*252G>A
|
rs1407193739
|
0.00001
|
NM_000138.5(FBN1):c.*764G>A
|
rs55717426
|
0.00001
|
NM_000138.5(FBN1):c.*968G>A
|
rs999275120
|
0.00001
|
NM_000138.5(FBN1):c.1150G>A (p.Asp384Asn)
|
rs1405173549
|
0.00001
|
NM_000138.5(FBN1):c.1167C>T (p.Cys389=)
|
rs746201757
|
0.00001
|
NM_000138.5(FBN1):c.1169C>T (p.Ser390Phe)
|
rs746385384
|
0.00001
|
NM_000138.5(FBN1):c.1174C>G (p.Pro392Ala)
|
rs749467972
|
0.00001
|
NM_000138.5(FBN1):c.1177A>G (p.Met393Val)
|
rs983129867
|
0.00001
|
NM_000138.5(FBN1):c.1215C>A (p.Pro405=)
|
rs1213208601
|
0.00001
|
NM_000138.5(FBN1):c.1216C>G (p.Leu406Val)
|
rs1257581073
|
0.00001
|
NM_000138.5(FBN1):c.1235T>A (p.Val412Asp)
|
rs764925097
|
0.00001
|
NM_000138.5(FBN1):c.1289C>T (p.Pro430Leu)
|
rs771134832
|
0.00001
|
NM_000138.5(FBN1):c.1344C>T (p.Asn448=)
|
rs1281826850
|
0.00001
|
NM_000138.5(FBN1):c.1368C>G (p.Val456=)
|
rs1433264110
|
0.00001
|
NM_000138.5(FBN1):c.1373A>G (p.Tyr458Cys)
|
rs749133312
|
0.00001
|
NM_000138.5(FBN1):c.1407T>G (p.Pro469=)
|
rs1016146856
|
0.00001
|
NM_000138.5(FBN1):c.1417C>T (p.Arg473Trp)
|
rs767068276
|
0.00001
|
NM_000138.5(FBN1):c.1471G>A (p.Val491Ile)
|
rs373751659
|
0.00001
|
NM_000138.5(FBN1):c.1494C>T (p.Pro498=)
|
rs765595961
|
0.00001
|
NM_000138.5(FBN1):c.1529C>T (p.Ser510Leu)
|
rs776942896
|
0.00001
|
NM_000138.5(FBN1):c.1533C>T (p.Tyr511=)
|
rs1060504146
|
0.00001
|
NM_000138.5(FBN1):c.1560G>C (p.Gln520His)
|
rs143253318
|
0.00001
|
NM_000138.5(FBN1):c.1572G>A (p.Thr524=)
|
rs1232119767
|
0.00001
|
NM_000138.5(FBN1):c.15T>C (p.Arg5=)
|
rs1371787168
|
0.00001
|
NM_000138.5(FBN1):c.1603T>A (p.Leu535Ile)
|
rs1485432119
|
0.00001
|
NM_000138.5(FBN1):c.1604T>C (p.Leu535Ser)
|
rs754364317
|
0.00001
|
NM_000138.5(FBN1):c.1605A>G (p.Leu535=)
|
rs778013543
|
0.00001
|
NM_000138.5(FBN1):c.1615C>T (p.Arg539Trp)
|
rs752999845
|
0.00001
|
NM_000138.5(FBN1):c.1634G>A (p.Arg545His)
|
rs193922179
|
0.00001
|
NM_000138.5(FBN1):c.1639A>G (p.Ile547Val)
|
rs759813328
|
0.00001
|
NM_000138.5(FBN1):c.164+12G>A
|
rs571164659
|
0.00001
|
NM_000138.5(FBN1):c.164+18C>T
|
rs772382145
|
0.00001
|
NM_000138.5(FBN1):c.164+6G>A
|
rs760968439
|
0.00001
|
NM_000138.5(FBN1):c.1640T>C (p.Ile547Thr)
|
rs112269822
|
0.00001
|
NM_000138.5(FBN1):c.1647A>T (p.Thr549=)
|
rs2043746264
|
0.00001
|
NM_000138.5(FBN1):c.165-13G>A
|
rs985235880
|
0.00001
|
NM_000138.5(FBN1):c.165-7G>A
|
rs397515761
|
0.00001
|
NM_000138.5(FBN1):c.165-9T>C
|
rs758117122
|
0.00001
|
NM_000138.5(FBN1):c.1653C>T (p.Gly551=)
|
rs766565738
|
0.00001
|
NM_000138.5(FBN1):c.1676C>T (p.Ala559Val)
|
rs141551765
|
0.00001
|
NM_000138.5(FBN1):c.1686T>G (p.His562Gln)
|
rs1220088131
|
0.00001
|
NM_000138.5(FBN1):c.1693C>T (p.Arg565Ter)
|
rs113422242
|
0.00001
|
NM_000138.5(FBN1):c.1694G>A (p.Arg565Gln)
|
rs763815231
|
0.00001
|
NM_000138.5(FBN1):c.1714+10G>A
|
rs760474361
|
0.00001
|
NM_000138.5(FBN1):c.1715-12T>C
|
rs1057521270
|
0.00001
|
NM_000138.5(FBN1):c.1715-14T>G
|
rs753746089
|
0.00001
|
NM_000138.5(FBN1):c.1731C>T (p.Ser577=)
|
rs1453708754
|
0.00001
|
NM_000138.5(FBN1):c.174C>A (p.Val58=)
|
rs369096927
|
0.00001
|
NM_000138.5(FBN1):c.1776C>G (p.Gly592=)
|
rs759191650
|
0.00001
|
NM_000138.5(FBN1):c.1779T>C (p.Ser593=)
|
rs372195702
|
0.00001
|
NM_000138.5(FBN1):c.1825C>T (p.Arg609Cys)
|
rs772574901
|
0.00001
|
NM_000138.5(FBN1):c.1826G>A (p.Arg609His)
|
rs770393471
|
0.00001
|
NM_000138.5(FBN1):c.1837+10A>G
|
rs2043731034
|
0.00001
|
NM_000138.5(FBN1):c.1837+9T>C
|
rs56102085
|
0.00001
|
NM_000138.5(FBN1):c.1838-7G>A
|
rs772849691
|
0.00001
|
NM_000138.5(FBN1):c.1844A>G (p.Asn615Ser)
|
rs397515763
|
0.00001
|
NM_000138.5(FBN1):c.1845C>T (p.Asn615=)
|
rs932735615
|
0.00001
|
NM_000138.5(FBN1):c.1856C>A (p.Thr619Asn)
|
rs377686210
|
0.00001
|
NM_000138.5(FBN1):c.1858C>T (p.Pro620Ser)
|
rs1220853793
|
0.00001
|
NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys)
|
rs727503057
|
0.00001
|
NM_000138.5(FBN1):c.1907G>A (p.Arg636Lys)
|
rs1335136151
|
0.00001
|
NM_000138.5(FBN1):c.1914A>C (p.Glu638Asp)
|
rs794728180
|
0.00001
|
NM_000138.5(FBN1):c.1937G>A (p.Gly646Asp)
|
rs1238689648
|
0.00001
|
NM_000138.5(FBN1):c.1960+17G>A
|
rs749990136
|
0.00001
|
NM_000138.5(FBN1):c.1977C>T (p.Ser659=)
|
rs750118053
|
0.00001
|
NM_000138.5(FBN1):c.2017C>T (p.Pro673Ser)
|
rs766346620
|
0.00001
|
NM_000138.5(FBN1):c.2020T>C (p.Leu674=)
|
rs753453348
|
0.00001
|
NM_000138.5(FBN1):c.2057C>A (p.Ala686Asp)
|
rs193922186
|
0.00001
|
NM_000138.5(FBN1):c.2058C>A (p.Ala686=)
|
rs759859967
|
0.00001
|
NM_000138.5(FBN1):c.207T>C (p.Pro69=)
|
rs771057822
|
0.00001
|
NM_000138.5(FBN1):c.2082A>G (p.Glu694=)
|
rs773288488
|
0.00001
|
NM_000138.5(FBN1):c.2090A>G (p.Gln697Arg)
|
rs769708437
|
0.00001
|
NM_000138.5(FBN1):c.2098C>T (p.Pro700Ser)
|
rs745694291
|
0.00001
|
NM_000138.5(FBN1):c.2106G>T (p.Gln702His)
|
rs778835898
|
0.00001
|
NM_000138.5(FBN1):c.2113+13A>G
|
rs755529582
|
0.00001
|
NM_000138.5(FBN1):c.2113+17A>G
|
rs1246446564
|
0.00001
|
NM_000138.5(FBN1):c.2113+19A>T
|
rs541501178
|
0.00001
|
NM_000138.5(FBN1):c.2113+8G>A
|
rs763708195
|
0.00001
|
NM_000138.5(FBN1):c.2115G>A (p.Ala705=)
|
rs932764622
|
0.00001
|
NM_000138.5(FBN1):c.2126C>G (p.Ala709Gly)
|
rs794728184
|
0.00001
|
NM_000138.5(FBN1):c.2127A>C (p.Ala709=)
|
rs886038990
|
0.00001
|
NM_000138.5(FBN1):c.2153C>T (p.Thr718Met)
|
rs777526851
|
0.00001
|
NM_000138.5(FBN1):c.2188G>A (p.Asp730Asn)
|
rs199625633
|
0.00001
|
NM_000138.5(FBN1):c.2208T>G (p.Asn736Lys)
|
rs1450795956
|
0.00001
|
NM_000138.5(FBN1):c.2228G>A (p.Arg743His)
|
rs761942436
|
0.00001
|
NM_000138.5(FBN1):c.2253T>C (p.Asn751=)
|
rs1566912218
|
0.00001
|
NM_000138.5(FBN1):c.2293+16C>G
|
rs772889439
|
0.00001
|
NM_000138.5(FBN1):c.2294-19A>C
|
rs1353634853
|
0.00001
|
NM_000138.5(FBN1):c.2294-19A>G
|
rs1353634853
|
0.00001
|
NM_000138.5(FBN1):c.2349T>C (p.Asn783=)
|
rs1057522903
|
0.00001
|
NM_000138.5(FBN1):c.2393A>G (p.Tyr798Cys)
|
rs1064793112
|
0.00001
|
NM_000138.5(FBN1):c.2406A>G (p.Leu802=)
|
rs1490836069
|
0.00001
|
NM_000138.5(FBN1):c.2433C>T (p.Cys811=)
|
rs193921256
|
0.00001
|
NM_000138.5(FBN1):c.2449A>G (p.Ile817Val)
|
rs965020667
|
0.00001
|
NM_000138.5(FBN1):c.2531T>C (p.Ile844Thr)
|
rs751564716
|
0.00001
|
NM_000138.5(FBN1):c.2540-7T>C
|
rs749692510
|
0.00001
|
NM_000138.5(FBN1):c.2568T>G (p.Thr856=)
|
rs781607814
|
0.00001
|
NM_000138.5(FBN1):c.2577T>C (p.Asp859=)
|
rs779997664
|
0.00001
|
NM_000138.5(FBN1):c.2598C>T (p.Ile866=)
|
rs752457534
|
0.00001
|
NM_000138.5(FBN1):c.261T>C (p.His87=)
|
rs775220887
|
0.00001
|
NM_000138.5(FBN1):c.2628C>T (p.Cys876=)
|
rs112085967
|
0.00001
|
NM_000138.5(FBN1):c.2634C>T (p.Ser878=)
|
rs770395971
|
0.00001
|
NM_000138.5(FBN1):c.2640T>G (p.Gly880=)
|
rs1597568836
|
0.00001
|
NM_000138.5(FBN1):c.2683A>G (p.Ile895Val)
|
rs772308703
|
0.00001
|
NM_000138.5(FBN1):c.2684T>C (p.Ile895Thr)
|
rs1488064078
|
0.00001
|
NM_000138.5(FBN1):c.2711A>G (p.Lys904Arg)
|
rs778951277
|
0.00001
|
NM_000138.5(FBN1):c.2713G>A (p.Gly905Arg)
|
rs756111066
|
0.00001
|
NM_000138.5(FBN1):c.2748G>A (p.Val916=)
|
rs1339922695
|
0.00001
|
NM_000138.5(FBN1):c.2768A>G (p.Asn923Ser)
|
rs1220842179
|
0.00001
|
NM_000138.5(FBN1):c.2771G>T (p.Gly924Val)
|
rs1206476337
|
0.00001
|
NM_000138.5(FBN1):c.2773C>G (p.Leu925Val)
|
rs149681175
|
0.00001
|
NM_000138.5(FBN1):c.2785A>T (p.Thr929Ser)
|
rs372203315
|
0.00001
|
NM_000138.5(FBN1):c.284C>T (p.Ser95Leu)
|
rs922684362
|
0.00001
|
NM_000138.5(FBN1):c.2855-4A>G
|
rs769851513
|
0.00001
|
NM_000138.5(FBN1):c.2858T>C (p.Ile953Thr)
|
rs1177856657
|
0.00001
|
NM_000138.5(FBN1):c.285G>A (p.Ser95=)
|
rs745596276
|
0.00001
|
NM_000138.5(FBN1):c.2877C>A (p.Phe959Leu)
|
rs1411365281
|
0.00001
|
NM_000138.5(FBN1):c.287G>C (p.Arg96Thr)
|
rs794728291
|
0.00001
|
NM_000138.5(FBN1):c.2883G>A (p.Arg961=)
|
rs142964120
|
0.00001
|
NM_000138.5(FBN1):c.2886C>T (p.Tyr962=)
|
rs772108557
|
0.00001
|
NM_000138.5(FBN1):c.2902A>T (p.Thr968Ser)
|
rs752117227
|
0.00001
|
NM_000138.5(FBN1):c.2909C>T (p.Pro970Leu)
|
rs751985082
|
0.00001
|
NM_000138.5(FBN1):c.2920C>T (p.Arg974Cys)
|
rs397514558
|
0.00001
|
NM_000138.5(FBN1):c.2926C>T (p.Arg976Cys)
|
rs548296552
|
0.00001
|
NM_000138.5(FBN1):c.2935G>A (p.Ala979Thr)
|
rs748915171
|
0.00001
|
NM_000138.5(FBN1):c.2977T>C (p.Cys993Arg)
|
rs1206813753
|
0.00001
|
NM_000138.5(FBN1):c.2979C>T (p.Cys993=)
|
rs150126098
|
0.00001
|
NM_000138.5(FBN1):c.297G>A (p.Met99Ile)
|
rs1314594090
|
0.00001
|
NM_000138.5(FBN1):c.2986T>C (p.Cys996Arg)
|
rs140592
|
0.00001
|
NM_000138.5(FBN1):c.2991C>A (p.Pro997=)
|
rs1225275544
|
0.00001
|
NM_000138.5(FBN1):c.3021G>A (p.Leu1007=)
|
rs764203356
|
0.00001
|
NM_000138.5(FBN1):c.3031G>A (p.Gly1011Arg)
|
rs1267721327
|
0.00001
|
NM_000138.5(FBN1):c.3036C>T (p.Pro1012=)
|
rs766194667
|
0.00001
|
NM_000138.5(FBN1):c.3043G>A (p.Ala1015Thr)
|
rs55831697
|
0.00001
|
NM_000138.5(FBN1):c.3089A>G (p.Asn1030Ser)
|
rs375996640
|
0.00001
|
NM_000138.5(FBN1):c.3128A>G (p.Lys1043Arg)
|
rs137854472
|
0.00001
|
NM_000138.5(FBN1):c.3184G>A (p.Asp1062Asn)
|
rs758366498
|
0.00001
|
NM_000138.5(FBN1):c.3209-3C>A
|
rs397515787
|
0.00001
|
NM_000138.5(FBN1):c.3209-6G>A
|
rs942309418
|
0.00001
|
NM_000138.5(FBN1):c.3209-9T>C
|
rs1188743312
|
0.00001
|
NM_000138.5(FBN1):c.3211A>G (p.Ile1071Val)
|
rs990134651
|
0.00001
|
NM_000138.5(FBN1):c.3214G>A (p.Asp1072Asn)
|
rs778867355
|
0.00001
|
NM_000138.5(FBN1):c.3255G>A (p.Gln1085=)
|
rs767088495
|
0.00001
|
NM_000138.5(FBN1):c.3330C>T (p.Asn1110=)
|
rs374584763
|
0.00001
|
NM_000138.5(FBN1):c.3337+20A>G
|
rs757193641
|
0.00001
|
NM_000138.5(FBN1):c.3348G>A (p.Glu1116=)
|
rs1183230087
|
0.00001
|
NM_000138.5(FBN1):c.3369A>G (p.Leu1123=)
|
rs1245413946
|
0.00001
|
NM_000138.5(FBN1):c.3376G>A (p.Gly1126Ser)
|
rs1437464599
|
0.00001
|
NM_000138.5(FBN1):c.3400G>A (p.Gly1134Arg)
|
rs372404949
|
0.00001
|
NM_000138.5(FBN1):c.3405T>A (p.Ser1135Arg)
|
rs777727844
|
0.00001
|
NM_000138.5(FBN1):c.3409C>T (p.Arg1137Cys)
|
rs1439487763
|
0.00001
|
NM_000138.5(FBN1):c.3452C>T (p.Ser1151Phe)
|
rs145146283
|
0.00001
|
NM_000138.5(FBN1):c.3463G>A (p.Asp1155Asn)
|
rs794728204
|
0.00001
|
NM_000138.5(FBN1):c.3464-19C>G
|
rs928322808
|
0.00001
|
NM_000138.5(FBN1):c.3464-3C>T
|
rs770992241
|
0.00001
|
NM_000138.5(FBN1):c.347-19C>A
|
rs755487996
|
0.00001
|
NM_000138.5(FBN1):c.347-2A>G
|
rs1555405056
|
0.00001
|
NM_000138.5(FBN1):c.3522C>T (p.Leu1174=)
|
rs778312047
|
0.00001
|
NM_000138.5(FBN1):c.353A>G (p.His118Arg)
|
rs765503809
|
0.00001
|
NM_000138.5(FBN1):c.3560A>G (p.His1187Arg)
|
rs193922200
|
0.00001
|
NM_000138.5(FBN1):c.3563C>T (p.Ser1188Leu)
|
rs1057520181
|
0.00001
|
NM_000138.5(FBN1):c.3570C>T (p.Pro1190=)
|
rs188317014
|
0.00001
|
NM_000138.5(FBN1):c.3571G>A (p.Asp1191Asn)
|
rs370121450
|
0.00001
|
NM_000138.5(FBN1):c.3592A>G (p.Ile1198Val)
|
rs370572503
|
0.00001
|
NM_000138.5(FBN1):c.3593T>C (p.Ile1198Thr)
|
rs755375255
|
0.00001
|
NM_000138.5(FBN1):c.3654C>T (p.Ser1218=)
|
rs760712674
|
0.00001
|
NM_000138.5(FBN1):c.365G>A (p.Arg122His)
|
rs1010750845
|
0.00001
|
NM_000138.5(FBN1):c.3674C>T (p.Pro1225Leu)
|
rs775532488
|
0.00001
|
NM_000138.5(FBN1):c.3688A>C (p.Met1230Leu)
|
rs759424465
|
0.00001
|
NM_000138.5(FBN1):c.3689T>C (p.Met1230Thr)
|
rs774003646
|
0.00001
|
NM_000138.5(FBN1):c.3693T>C (p.Pro1231=)
|
rs1364910158
|
0.00001
|
NM_000138.5(FBN1):c.370A>G (p.Met124Val)
|
rs764224168
|
0.00001
|
NM_000138.5(FBN1):c.3711C>T (p.Thr1237=)
|
rs536369260
|
0.00001
|
NM_000138.5(FBN1):c.3713-5T>C
|
rs1412125032
|
0.00001
|
NM_000138.5(FBN1):c.3717C>T (p.Ile1239=)
|
rs759387957
|
0.00001
|
NM_000138.5(FBN1):c.3718G>A (p.Asp1240Asn)
|
rs573187346
|
0.00001
|
NM_000138.5(FBN1):c.3740A>T (p.Asn1247Ile)
|
rs568625812
|
0.00001
|
NM_000138.5(FBN1):c.3762C>T (p.Cys1254=)
|
rs1555398286
|
0.00001
|
NM_000138.5(FBN1):c.3797A>T (p.Tyr1266Phe)
|
rs200283837
|
0.00001
|
NM_000138.5(FBN1):c.3811G>A (p.Ala1271Thr)
|
rs993279983
|
0.00001
|
NM_000138.5(FBN1):c.3834T>C (p.Cys1278=)
|
rs886039492
|
0.00001
|
NM_000138.5(FBN1):c.3845A>G (p.Asn1282Ser)
|
rs140647
|
0.00001
|
NM_000138.5(FBN1):c.3897G>A (p.Thr1299=)
|
rs771283158
|
0.00001
|
NM_000138.5(FBN1):c.392A>G (p.Asp131Gly)
|
rs1655998227
|
0.00001
|
NM_000138.5(FBN1):c.3931T>A (p.Tyr1311Asn)
|
rs1406315227
|
0.00001
|
NM_000138.5(FBN1):c.393C>T (p.Asp131=)
|
rs549054625
|
0.00001
|
NM_000138.5(FBN1):c.3969C>T (p.Ile1323=)
|
rs536546914
|
0.00001
|
NM_000138.5(FBN1):c.4007A>G (p.His1336Arg)
|
rs886038781
|
0.00001
|
NM_000138.5(FBN1):c.4012G>A (p.Val1338Ile)
|
rs1416288007
|
0.00001
|
NM_000138.5(FBN1):c.4046G>C (p.Ser1349Thr)
|
rs1373690375
|
0.00001
|
NM_000138.5(FBN1):c.4056C>T (p.Pro1352=)
|
rs766969494
|
0.00001
|
NM_000138.5(FBN1):c.4057G>A (p.Gly1353Arg)
|
rs187177496
|
0.00001
|
NM_000138.5(FBN1):c.4059G>T (p.Gly1353=)
|
rs886038250
|
0.00001
|
NM_000138.5(FBN1):c.4075A>G (p.Ile1359Val)
|
rs202192505
|
0.00001
|
NM_000138.5(FBN1):c.4087+6T>A
|
rs746201265
|
0.00001
|
NM_000138.5(FBN1):c.4089T>C (p.Asp1363=)
|
rs751099175
|
0.00001
|
NM_000138.5(FBN1):c.4106A>G (p.Asn1369Ser)
|
rs370923981
|
0.00001
|
NM_000138.5(FBN1):c.4161C>T (p.Tyr1387=)
|
rs1332403498
|
0.00001
|
NM_000138.5(FBN1):c.4170G>A (p.Leu1390=)
|
rs1229052328
|
0.00001
|
NM_000138.5(FBN1):c.426G>A (p.Gly142=)
|
rs1391070461
|
0.00001
|
NM_000138.5(FBN1):c.4337-6C>G
|
rs1225924246
|
0.00001
|
NM_000138.5(FBN1):c.4359G>A (p.Pro1453=)
|
rs748551052
|
0.00001
|
NM_000138.5(FBN1):c.4401G>T (p.Leu1467=)
|
rs747377334
|
0.00001
|
NM_000138.5(FBN1):c.442+17T>A
|
rs779385878
|
0.00001
|
NM_000138.5(FBN1):c.4428C>T (p.Tyr1476=)
|
rs767462642
|
0.00001
|
NM_000138.5(FBN1):c.442C>T (p.Pro148Ser)
|
rs780624885
|
0.00001
|
NM_000138.5(FBN1):c.4444G>A (p.Gly1482Ser)
|
rs762532435
|
0.00001
|
NM_000138.5(FBN1):c.4446C>T (p.Gly1482=)
|
rs772727859
|
0.00001
|
NM_000138.5(FBN1):c.4460-8G>A
|
rs193922204
|
0.00001
|
NM_000138.5(FBN1):c.4492A>G (p.Ile1498Val)
|
rs761187818
|
0.00001
|
NM_000138.5(FBN1):c.451G>C (p.Glu151Gln)
|
rs1180715983
|
0.00001
|
NM_000138.5(FBN1):c.4527T>C (p.Tyr1509=)
|
rs776021250
|
0.00001
|
NM_000138.5(FBN1):c.4541C>T (p.Pro1514Leu)
|
rs746205136
|
0.00001
|
NM_000138.5(FBN1):c.4568G>A (p.Arg1523Gln)
|
rs201546777
|
0.00001
|
NM_000138.5(FBN1):c.4581T>C (p.Val1527=)
|
rs2043340510
|
0.00001
|
NM_000138.5(FBN1):c.4583-5A>C
|
rs778966916
|
0.00001
|
NM_000138.5(FBN1):c.4586C>A (p.Thr1529Asn)
|
rs794728227
|
0.00001
|
NM_000138.5(FBN1):c.4598A>G (p.Asn1533Ser)
|
rs1254024310
|
0.00001
|
NM_000138.5(FBN1):c.4622G>A (p.Arg1541Gln)
|
rs753491504
|
0.00001
|
NM_000138.5(FBN1):c.465C>A (p.Leu155=)
|
rs1287033860
|
0.00001
|
NM_000138.5(FBN1):c.4695T>A (p.Ser1565=)
|
rs1891548285
|
0.00001
|
NM_000138.5(FBN1):c.4707C>G (p.Ala1569=)
|
rs397515813
|
0.00001
|
NM_000138.5(FBN1):c.4718C>T (p.Pro1573Leu)
|
rs1286993730
|
0.00001
|
NM_000138.5(FBN1):c.4736C>T (p.Ala1579Val)
|
rs772009116
|
0.00001
|
NM_000138.5(FBN1):c.4747+7G>A
|
rs967122284
|
0.00001
|
NM_000138.5(FBN1):c.4747T>G (p.Ser1583Ala)
|
rs959567666
|
0.00001
|
NM_000138.5(FBN1):c.4748-9T>C
|
rs760640909
|
0.00001
|
NM_000138.5(FBN1):c.4772G>A (p.Gly1591Glu)
|
rs772818208
|
0.00001
|
NM_000138.5(FBN1):c.4802C>A (p.Thr1601Asn)
|
rs1363357978
|
0.00001
|
NM_000138.5(FBN1):c.4816+14C>T
|
rs572479986
|
0.00001
|
NM_000138.5(FBN1):c.4817-10A>G
|
rs368644662
|
0.00001
|
NM_000138.5(FBN1):c.4824T>C (p.Asp1608=)
|
rs1057521341
|
0.00001
|
NM_000138.5(FBN1):c.484G>A (p.Ala162Thr)
|
rs193922210
|
0.00001
|
NM_000138.5(FBN1):c.4894C>T (p.Arg1632Cys)
|
rs544990350
|
0.00001
|
NM_000138.5(FBN1):c.4895G>A (p.Arg1632His)
|
rs756227025
|
0.00001
|
NM_000138.5(FBN1):c.4906G>A (p.Gly1636Ser)
|
rs767451077
|
0.00001
|
NM_000138.5(FBN1):c.4913A>C (p.Tyr1638Ser)
|
rs374520085
|
0.00001
|
NM_000138.5(FBN1):c.4926T>C (p.Asp1642=)
|
rs140629
|
0.00001
|
NM_000138.5(FBN1):c.4931G>A (p.Arg1644Gln)
|
rs768366890
|
0.00001
|
NM_000138.5(FBN1):c.4943-3T>C
|
rs367594261
|
0.00001
|
NM_000138.5(FBN1):c.494G>A (p.Arg165Gln)
|
rs1060501079
|
0.00001
|
NM_000138.5(FBN1):c.5007C>T (p.Asn1669=)
|
rs1267512714
|
0.00001
|
NM_000138.5(FBN1):c.5086T>C (p.Tyr1696His)
|
rs373320952
|
0.00001
|
NM_000138.5(FBN1):c.509A>G (p.Tyr170Cys)
|
rs1228647846
|
0.00001
|
NM_000138.5(FBN1):c.5142G>A (p.Met1714Ile)
|
rs368287795
|
0.00001
|
NM_000138.5(FBN1):c.5147A>T (p.Lys1716Met)
|
rs2043292832
|
0.00001
|
NM_000138.5(FBN1):c.5184G>A (p.Ala1728=)
|
rs754660497
|
0.00001
|
NM_000138.5(FBN1):c.5225-19C>T
|
rs375761937
|
0.00001
|
NM_000138.5(FBN1):c.5225-7A>G
|
rs761196321
|
0.00001
|
NM_000138.5(FBN1):c.5268C>A (p.Val1756=)
|
rs764685311
|
0.00001
|
NM_000138.5(FBN1):c.5283C>T (p.Thr1761=)
|
rs373887214
|
0.00001
|
NM_000138.5(FBN1):c.5293G>A (p.Val1765Ile)
|
rs2043270857
|
0.00001
|
NM_000138.5(FBN1):c.5296+13G>A
|
rs781168268
|
0.00001
|
NM_000138.5(FBN1):c.5304T>A (p.Asp1768Glu)
|
rs867058901
|
0.00001
|
NM_000138.5(FBN1):c.5312G>A (p.Arg1771Gln)
|
rs759791896
|
0.00001
|
NM_000138.5(FBN1):c.5340A>C (p.Gly1780=)
|
rs766501385
|
0.00001
|
NM_000138.5(FBN1):c.5347A>T (p.Ile1783Phe)
|
rs1232797551
|
0.00001
|
NM_000138.5(FBN1):c.5423-15C>A
|
rs1426894149
|
0.00001
|
NM_000138.5(FBN1):c.5430C>T (p.Asp1810=)
|
rs765338162
|
0.00001
|
NM_000138.5(FBN1):c.5441A>G (p.Asn1814Ser)
|
rs775463311
|
0.00001
|
NM_000138.5(FBN1):c.5449G>A (p.Val1817Met)
|
rs757901214
|
0.00001
|
NM_000138.5(FBN1):c.5459G>A (p.Arg1820His)
|
rs1340155407
|
0.00001
|
NM_000138.5(FBN1):c.5464G>A (p.Ala1822Thr)
|
rs777539060
|
0.00001
|
NM_000138.5(FBN1):c.5471G>A (p.Cys1824Tyr)
|
rs1597537858
|
0.00001
|
NM_000138.5(FBN1):c.5481T>G (p.Thr1827=)
|
rs1261752884
|
0.00001
|
NM_000138.5(FBN1):c.5511C>T (p.Pro1837=)
|
rs372767912
|
0.00001
|
NM_000138.5(FBN1):c.5512G>A (p.Gly1838Ser)
|
rs397515823
|
0.00001
|
NM_000138.5(FBN1):c.5545+10G>C
|
rs1231571005
|
0.00001
|
NM_000138.5(FBN1):c.5546-4A>C
|
rs919423974
|
0.00001
|
NM_000138.5(FBN1):c.5548C>T (p.Arg1850Cys)
|
rs750720912
|
0.00001
|
NM_000138.5(FBN1):c.5549G>A (p.Arg1850His)
|
rs779174265
|
0.00001
|
NM_000138.5(FBN1):c.5582G>A (p.Ser1861Asn)
|
rs766358553
|
0.00001
|
NM_000138.5(FBN1):c.5585A>G (p.His1862Arg)
|
rs976161721
|
0.00001
|
NM_000138.5(FBN1):c.5596A>G (p.Ile1866Val)
|
rs367586350
|
0.00001
|
NM_000138.5(FBN1):c.5603C>T (p.Thr1868Ile)
|
rs145082616
|
0.00001
|
NM_000138.5(FBN1):c.5630A>G (p.His1877Arg)
|
rs746473206
|
0.00001
|
NM_000138.5(FBN1):c.5671+11_5671+13dup
|
rs779987733
|
0.00001
|
NM_000138.5(FBN1):c.573C>T (p.Ser191=)
|
rs749627551
|
0.00001
|
NM_000138.5(FBN1):c.5753A>G (p.His1918Arg)
|
rs993464239
|
0.00001
|
NM_000138.5(FBN1):c.5771A>G (p.His1924Arg)
|
rs748230405
|
0.00001
|
NM_000138.5(FBN1):c.5776A>G (p.Asn1926Asp)
|
rs1060501097
|
0.00001
|
NM_000138.5(FBN1):c.5776_5778del (p.Asn1926del)
|
rs886038964
|
0.00001
|
NM_000138.5(FBN1):c.5788+5G>A
|
rs193922219
|
0.00001
|
NM_000138.5(FBN1):c.5805A>C (p.Ala1935=)
|
rs755825254
|
0.00001
|
NM_000138.5(FBN1):c.5817G>A (p.Gly1939=)
|
rs767097888
|
0.00001
|
NM_000138.5(FBN1):c.5875A>G (p.Asn1959Asp)
|
rs956702513
|
0.00001
|
NM_000138.5(FBN1):c.5876A>G (p.Asn1959Ser)
|
rs773486280
|
0.00001
|
NM_000138.5(FBN1):c.590G>A (p.Gly197Glu)
|
rs895824095
|
0.00001
|
NM_000138.5(FBN1):c.5977G>A (p.Asp1993Asn)
|
rs377671719
|
0.00001
|
NM_000138.5(FBN1):c.598A>G (p.Ser200Gly)
|
rs1057036462
|
0.00001
|
NM_000138.5(FBN1):c.5991A>G (p.Arg1997=)
|
rs201346996
|
0.00001
|
NM_000138.5(FBN1):c.6001C>T (p.Pro2001Ser)
|
rs921321822
|
0.00001
|
NM_000138.5(FBN1):c.6025G>A (p.Glu2009Lys)
|
rs773204216
|
0.00001
|
NM_000138.5(FBN1):c.6038-18C>T
|
rs767567399
|
0.00001
|
NM_000138.5(FBN1):c.6038-8T>A
|
rs569460847
|
0.00001
|
NM_000138.5(FBN1):c.6043G>A (p.Asp2015Asn)
|
rs768457461
|
0.00001
|
NM_000138.5(FBN1):c.6099A>G (p.Glu2033=)
|
rs1397665480
|
0.00001
|
NM_000138.5(FBN1):c.610T>C (p.Cys204Arg)
|
rs2044026132
|
0.00001
|
NM_000138.5(FBN1):c.6110A>G (p.Lys2037Arg)
|
rs556131403
|
0.00001
|
NM_000138.5(FBN1):c.6113G>A (p.Cys2038Tyr)
|
rs363804
|
0.00001
|
NM_000138.5(FBN1):c.6147T>C (p.Ser2049=)
|
rs553959381
|
0.00001
|
NM_000138.5(FBN1):c.6163+2dup
|
rs794728315
|
0.00001
|
NM_000138.5(FBN1):c.6163+9C>G
|
rs547396976
|
0.00001
|
NM_000138.5(FBN1):c.6187G>A (p.Ala2063Thr)
|
rs1316593215
|
0.00001
|
NM_000138.5(FBN1):c.6196G>A (p.Glu2066Lys)
|
rs1219570062
|
0.00001
|
NM_000138.5(FBN1):c.6231T>C (p.Asn2077=)
|
rs2043085335
|
0.00001
|
NM_000138.5(FBN1):c.6244G>C (p.Glu2082Gln)
|
rs1052480459
|
0.00001
|
NM_000138.5(FBN1):c.6289G>A (p.Glu2097Lys)
|
rs397515831
|
0.00001
|
NM_000138.5(FBN1):c.6315G>A (p.Glu2105=)
|
rs1478813051
|
0.00001
|
NM_000138.5(FBN1):c.6323G>A (p.Arg2108His)
|
rs762659907
|
0.00001
|
NM_000138.5(FBN1):c.6336T>C (p.Pro2112=)
|
rs772876451
|
0.00001
|
NM_000138.5(FBN1):c.6354C>T (p.Ile2118=)
|
rs112989722
|
0.00001
|
NM_000138.5(FBN1):c.6379+17G>A
|
rs1432052846
|
0.00001
|
NM_000138.5(FBN1):c.6380-19T>A
|
rs764874493
|
0.00001
|
NM_000138.5(FBN1):c.639C>T (p.Val213=)
|
rs543984363
|
0.00001
|
NM_000138.5(FBN1):c.6402C>T (p.Pro2134=)
|
rs772439885
|
0.00001
|
NM_000138.5(FBN1):c.6403G>A (p.Asp2135Asn)
|
rs746167150
|
0.00001
|
NM_000138.5(FBN1):c.6416A>G (p.His2139Arg)
|
rs794728248
|
0.00001
|
NM_000138.5(FBN1):c.6417T>C (p.His2139=)
|
rs551162566
|
0.00001
|
NM_000138.5(FBN1):c.6438T>C (p.Asp2146=)
|
rs1398482166
|
0.00001
|
NM_000138.5(FBN1):c.643C>G (p.Arg215Gly)
|
rs111687884
|
0.00001
|
NM_000138.5(FBN1):c.6448C>T (p.Arg2150Cys)
|
rs76702162
|
0.00001
|
NM_000138.5(FBN1):c.644G>A (p.Arg215Gln)
|
rs753703844
|
0.00001
|
NM_000138.5(FBN1):c.6454G>A (p.Glu2152Lys)
|
rs777877864
|
0.00001
|
NM_000138.5(FBN1):c.6461C>G (p.Pro2154Arg)
|
rs756219617
|
0.00001
|
NM_000138.5(FBN1):c.6496+3G>A
|
rs750222196
|
0.00001
|
NM_000138.5(FBN1):c.6497-12G>C
|
rs369726558
|
0.00001
|
NM_000138.5(FBN1):c.6499A>C (p.Thr2167Pro)
|
rs373510719
|
0.00001
|
NM_000138.5(FBN1):c.654C>G (p.Gly218=)
|
rs375181377
|
0.00001
|
NM_000138.5(FBN1):c.6559G>A (p.Gly2187Ser)
|
rs760055383
|
0.00001
|
NM_000138.5(FBN1):c.6560G>A (p.Gly2187Asp)
|
rs2043050989
|
0.00001
|
NM_000138.5(FBN1):c.6595G>A (p.Gly2199Ser)
|
rs770132403
|
0.00001
|
NM_000138.5(FBN1):c.6601A>G (p.Met2201Val)
|
rs776823384
|
0.00001
|
NM_000138.5(FBN1):c.6609A>G (p.Thr2203=)
|
rs547573220
|
0.00001
|
NM_000138.5(FBN1):c.6616+8T>A
|
rs371898247
|
0.00001
|
NM_000138.5(FBN1):c.6617-11C>A
|
rs932325724
|
0.00001
|
NM_000138.5(FBN1):c.6659G>A (p.Arg2220Gln)
|
rs780651466
|
0.00001
|
NM_000138.5(FBN1):c.6675T>C (p.Tyr2225=)
|
rs1260533788
|
0.00001
|
NM_000138.5(FBN1):c.6709G>A (p.Val2237Met)
|
rs764218640
|
0.00001
|
NM_000138.5(FBN1):c.6724C>T (p.Arg2242Cys)
|
rs779749926
|
0.00001
|
NM_000138.5(FBN1):c.6725G>A (p.Arg2242His)
|
rs773084230
|
0.00001
|
NM_000138.5(FBN1):c.6739+10C>T
|
rs1179540326
|
0.00001
|
NM_000138.5(FBN1):c.6745G>A (p.Asp2249Asn)
|
rs746666535
|
0.00001
|
NM_000138.5(FBN1):c.6768T>C (p.His2256=)
|
rs1047633779
|
0.00001
|
NM_000138.5(FBN1):c.6772T>G (p.Cys2258Gly)
|
rs1057520617
|
0.00001
|
NM_000138.5(FBN1):c.6783A>C (p.Lys2261Asn)
|
rs771716423
|
0.00001
|
NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr)
|
rs193922228
|
0.00001
|
NM_000138.5(FBN1):c.6835G>A (p.Gly2279Arg)
|
rs759674700
|
0.00001
|
NM_000138.5(FBN1):c.6845G>A (p.Arg2282Gln)
|
rs759696323
|
0.00001
|
NM_000138.5(FBN1):c.6859G>C (p.Glu2287Gln)
|
rs551736585
|
0.00001
|
NM_000138.5(FBN1):c.6871+12C>A
|
rs770526904
|
0.00001
|
NM_000138.5(FBN1):c.687C>G (p.His229Gln)
|
rs1391600366
|
0.00001
|
NM_000138.5(FBN1):c.6891G>A (p.Thr2297=)
|
rs764092264
|
0.00001
|
NM_000138.5(FBN1):c.6916C>T (p.Arg2306Cys)
|
rs1318405523
|
0.00001
|
NM_000138.5(FBN1):c.6917G>A (p.Arg2306His)
|
rs770443276
|
0.00001
|
NM_000138.5(FBN1):c.6932G>A (p.Arg2311His)
|
rs141868829
|
0.00001
|
NM_000138.5(FBN1):c.6969C>T (p.Thr2323=)
|
rs773655866
|
0.00001
|
NM_000138.5(FBN1):c.6970G>A (p.Ala2324Thr)
|
rs148831709
|
0.00001
|
NM_000138.5(FBN1):c.6988G>A (p.Glu2330Lys)
|
rs1042807324
|
0.00001
|
NM_000138.5(FBN1):c.6997+15C>T
|
rs1453967282
|
0.00001
|
NM_000138.5(FBN1):c.6997+3G>A
|
rs1270425478
|
0.00001
|
NM_000138.5(FBN1):c.7057A>G (p.Ser2353Gly)
|
rs886042199
|
0.00001
|
NM_000138.5(FBN1):c.7071C>T (p.Pro2357=)
|
rs397515843
|
0.00001
|
NM_000138.5(FBN1):c.7082C>T (p.Ser2361Leu)
|
rs397515844
|
0.00001
|
NM_000138.5(FBN1):c.7083G>A (p.Ser2361=)
|
rs1597517953
|
0.00001
|
NM_000138.5(FBN1):c.7181G>A (p.Arg2394Gln)
|
rs199750146
|
0.00001
|
NM_000138.5(FBN1):c.7183G>A (p.Gly2395Arg)
|
rs1448650040
|
0.00001
|
NM_000138.5(FBN1):c.7189A>G (p.Met2397Val)
|
rs774698871
|
0.00001
|
NM_000138.5(FBN1):c.7196A>G (p.Asn2399Ser)
|
rs1428791574
|
0.00001
|
NM_000138.5(FBN1):c.7204+6T>G
|
rs534417939
|
0.00001
|
NM_000138.5(FBN1):c.7209C>T (p.Ile2403=)
|
rs767903343
|
0.00001
|
NM_000138.5(FBN1):c.7228C>T (p.His2410Tyr)
|
rs548057493
|
0.00001
|
NM_000138.5(FBN1):c.722C>T (p.Thr241Met)
|
rs747049980
|
0.00001
|
NM_000138.5(FBN1):c.7257C>T (p.Val2419=)
|
rs745715311
|
0.00001
|
NM_000138.5(FBN1):c.7272A>G (p.Ser2424=)
|
rs1259699671
|
0.00001
|
NM_000138.5(FBN1):c.7317G>C (p.Gly2439=)
|
rs766871786
|
0.00001
|
NM_000138.5(FBN1):c.7330+10T>G
|
rs375569743
|
0.00001
|
NM_000138.5(FBN1):c.7330+4A>G
|
rs750677373
|
0.00001
|
NM_000138.5(FBN1):c.7330+5G>A
|
rs1330909386
|
0.00001
|
NM_000138.5(FBN1):c.7330+7G>A
|
rs765544479
|
0.00001
|
NM_000138.5(FBN1):c.7335G>T (p.Leu2445=)
|
rs754460527
|
0.00001
|
NM_000138.5(FBN1):c.7339G>A (p.Glu2447Lys)
|
rs137854464
|
0.00001
|
NM_000138.5(FBN1):c.736+10G>T
|
rs1183919688
|
0.00001
|
NM_000138.5(FBN1):c.736+8C>T
|
rs753703175
|
0.00001
|
NM_000138.5(FBN1):c.7360C>A (p.Pro2454Thr)
|
rs1166405014
|
0.00001
|
NM_000138.5(FBN1):c.7361C>T (p.Pro2454Leu)
|
rs1555394410
|
0.00001
|
NM_000138.5(FBN1):c.7413G>A (p.Pro2471=)
|
rs769588855
|
0.00001
|
NM_000138.5(FBN1):c.7521C>T (p.Phe2507=)
|
rs111895751
|
0.00001
|
NM_000138.5(FBN1):c.7529A>G (p.Lys2510Arg)
|
rs767602851
|
0.00001
|
NM_000138.5(FBN1):c.7539C>T (p.Pro2513=)
|
rs144713268
|
0.00001
|
NM_000138.5(FBN1):c.7559C>T (p.Thr2520Met)
|
rs763759308
|
0.00001
|
NM_000138.5(FBN1):c.7567A>C (p.Ile2523Leu)
|
rs199524640
|
0.00001
|
NM_000138.5(FBN1):c.756C>T (p.Ala252=)
|
rs1398534692
|
0.00001
|
NM_000138.5(FBN1):c.7570+8G>A
|
rs1215672755
|
0.00001
|
NM_000138.5(FBN1):c.7570+9G>A
|
rs745370940
|
0.00001
|
NM_000138.5(FBN1):c.7571-7C>A
|
rs1229246967
|
0.00001
|
NM_000138.5(FBN1):c.757A>G (p.Ile253Val)
|
rs1422959121
|
0.00001
|
NM_000138.5(FBN1):c.7598A>G (p.Asn2533Ser)
|
rs111231879
|
0.00001
|
NM_000138.5(FBN1):c.759C>T (p.Ile253=)
|
rs1403909880
|
0.00001
|
NM_000138.5(FBN1):c.7602G>A (p.Leu2534=)
|
rs1392530685
|
0.00001
|
NM_000138.5(FBN1):c.7605C>T (p.Cys2535=)
|
rs113544411
|
0.00001
|
NM_000138.5(FBN1):c.7617C>T (p.Gly2539=)
|
rs1388794275
|
0.00001
|
NM_000138.5(FBN1):c.762C>T (p.Pro254=)
|
rs374318726
|
0.00001
|
NM_000138.5(FBN1):c.7632T>C (p.Thr2544=)
|
rs1409771185
|
0.00001
|
NM_000138.5(FBN1):c.763G>A (p.Gly255Arg)
|
rs781113082
|
0.00001
|
NM_000138.5(FBN1):c.7647C>T (p.Thr2549=)
|
rs1184032259
|
0.00001
|
NM_000138.5(FBN1):c.7700-20T>C
|
rs747269059
|
0.00001
|
NM_000138.5(FBN1):c.7702G>A (p.Val2568Met)
|
rs138558987
|
0.00001
|
NM_000138.5(FBN1):c.7707C>T (p.Asp2569=)
|
rs756093148
|
0.00001
|
NM_000138.5(FBN1):c.776G>A (p.Gly259Glu)
|
rs751169871
|
0.00001
|
NM_000138.5(FBN1):c.7773C>T (p.Ser2591=)
|
rs764526450
|
0.00001
|
NM_000138.5(FBN1):c.7819+9C>T
|
rs971180549
|
0.00001
|
NM_000138.5(FBN1):c.7836C>T (p.Leu2612=)
|
rs756689495
|
0.00001
|
NM_000138.5(FBN1):c.7839C>T (p.Ser2613=)
|
rs193922238
|
0.00001
|
NM_000138.5(FBN1):c.7848C>G (p.Ile2616Met)
|
rs138184493
|
0.00001
|
NM_000138.5(FBN1):c.7875C>T (p.Thr2625=)
|
rs1344417150
|
0.00001
|
NM_000138.5(FBN1):c.7903G>A (p.Ala2635Thr)
|
rs746859988
|
0.00001
|
NM_000138.5(FBN1):c.7906G>A (p.Gly2636Ser)
|
rs112566465
|
0.00001
|
NM_000138.5(FBN1):c.7916A>G (p.Tyr2639Cys)
|
rs794728280
|
0.00001
|
NM_000138.5(FBN1):c.7929T>C (p.Ser2643=)
|
rs745524158
|
0.00001
|
NM_000138.5(FBN1):c.7949A>G (p.Asn2650Ser)
|
rs756819682
|
0.00001
|
NM_000138.5(FBN1):c.7968G>A (p.Gln2656=)
|
rs753203216
|
0.00001
|
NM_000138.5(FBN1):c.796G>A (p.Val266Ile)
|
rs201669595
|
0.00001
|
NM_000138.5(FBN1):c.7971C>A (p.Ala2657=)
|
rs2042897134
|
0.00001
|
NM_000138.5(FBN1):c.7998C>T (p.Thr2666=)
|
rs1374170310
|
0.00001
|
NM_000138.5(FBN1):c.8026C>T (p.Pro2676Ser)
|
rs745650955
|
0.00001
|
NM_000138.5(FBN1):c.8029G>A (p.Gly2677Ser)
|
rs1566889839
|
0.00001
|
NM_000138.5(FBN1):c.8039G>A (p.Arg2680His)
|
rs748934203
|
0.00001
|
NM_000138.5(FBN1):c.8049A>G (p.Gln2683=)
|
rs1208510012
|
0.00001
|
NM_000138.5(FBN1):c.8051+20G>T
|
rs781718760
|
0.00001
|
NM_000138.5(FBN1):c.8051+5G>A
|
rs767384075
|
0.00001
|
NM_000138.5(FBN1):c.8051+7A>G
|
rs755589553
|
0.00001
|
NM_000138.5(FBN1):c.8052-20A>G
|
rs939834412
|
0.00001
|
NM_000138.5(FBN1):c.8123A>G (p.Asn2708Ser)
|
rs759494825
|
0.00001
|
NM_000138.5(FBN1):c.814A>C (p.Lys272Gln)
|
rs762276905
|
0.00001
|
NM_000138.5(FBN1):c.8177G>A (p.Arg2726Gln)
|
rs552157433
|
0.00001
|
NM_000138.5(FBN1):c.8189G>A (p.Arg2730Gln)
|
rs200231626
|
0.00001
|
NM_000138.5(FBN1):c.8198C>G (p.Thr2733Arg)
|
rs794728340
|
0.00001
|
NM_000138.5(FBN1):c.8199A>T (p.Thr2733=)
|
rs1372383251
|
0.00001
|
NM_000138.5(FBN1):c.8218A>G (p.Asn2740Asp)
|
rs397515860
|
0.00001
|
NM_000138.5(FBN1):c.8223C>T (p.Ile2741=)
|
rs150065311
|
0.00001
|
NM_000138.5(FBN1):c.8227-3C>T
|
rs200822151
|
0.00001
|
NM_000138.5(FBN1):c.8257C>G (p.Leu2753Val)
|
rs1253681259
|
0.00001
|
NM_000138.5(FBN1):c.8261C>T (p.Ala2754Val)
|
rs1372306620
|
0.00001
|
NM_000138.5(FBN1):c.826G>A (p.Gly276Arg)
|
rs1220647446
|
0.00001
|
NM_000138.5(FBN1):c.8287A>G (p.Ile2763Val)
|
rs775172479
|
0.00001
|
NM_000138.5(FBN1):c.8295T>A (p.Ala2765=)
|
rs1417594908
|
0.00001
|
NM_000138.5(FBN1):c.8314A>G (p.Ser2772Gly)
|
rs778014965
|
0.00001
|
NM_000138.5(FBN1):c.8326C>T (p.Arg2776Ter)
|
rs137854466
|
0.00001
|
NM_000138.5(FBN1):c.8331C>G (p.Ile2777Met)
|
rs1427984176
|
0.00001
|
NM_000138.5(FBN1):c.8364G>A (p.Thr2788=)
|
rs112945086
|
0.00001
|
NM_000138.5(FBN1):c.8418C>G (p.Ile2806Met)
|
rs1480715909
|
0.00001
|
NM_000138.5(FBN1):c.8449T>G (p.Phe2817Val)
|
rs148741353
|
0.00001
|
NM_000138.5(FBN1):c.8466A>G (p.Pro2822=)
|
rs147279938
|
0.00001
|
NM_000138.5(FBN1):c.8494A>G (p.Ser2832Gly)
|
rs376933421
|
0.00001
|
NM_000138.5(FBN1):c.8509T>C (p.Tyr2837His)
|
rs1306203757
|
0.00001
|
NM_000138.5(FBN1):c.8524C>T (p.Leu2842Phe)
|
rs755903722
|
0.00001
|
NM_000138.5(FBN1):c.8537A>G (p.Glu2846Gly)
|
rs754570125
|
0.00001
|
NM_000138.5(FBN1):c.8551A>G (p.Lys2851Glu)
|
rs371939796
|
0.00001
|
NM_000138.5(FBN1):c.855A>G (p.Lys285=)
|
rs1272913373
|
0.00001
|
NM_000138.5(FBN1):c.8598C>A (p.Ile2866=)
|
rs1566888537
|
0.00001
|
NM_000138.5(FBN1):c.8606T>C (p.Leu2869Ser)
|
rs363848
|
0.00001
|
NM_000138.5(FBN1):c.862+3A>G
|
rs1555401453
|
0.00001
|
NM_000138.5(FBN1):c.863A>G (p.Asp288Gly)
|
rs565078451
|
0.00001
|
NM_000138.5(FBN1):c.876C>T (p.Cys292=)
|
rs1286340387
|
0.00001
|
NM_000138.5(FBN1):c.913A>G (p.Thr305Ala)
|
rs758035051
|
0.00001
|
NM_000138.5(FBN1):c.91G>A (p.Ala31Thr)
|
rs371130701
|
0.00001
|
NM_000138.5(FBN1):c.921A>C (p.Thr307=)
|
rs1341105449
|
0.00001
|
NM_000138.5(FBN1):c.954T>A (p.Gly318=)
|
rs753055657
|
0.00001
|
NM_000138.5(FBN1):c.963C>T (p.Thr321=)
|
rs767914958
|
0.00001
|
NM_000138.5(FBN1):c.969A>G (p.Pro323=)
|
rs759743242
|
0.00001
|
NM_000138.5(FBN1):c.987A>G (p.Ile329Met)
|
rs1289726476
|
0.00001
|
NM_000138.5(FBN1):c.988+17A>G
|
rs778476790
|
0.00001
|
NM_000138.5(FBN1):c.989-10T>C
|
rs774104217
|
0.00001
|
NM_000138.5(FBN1):c.989-18G>A
|
rs759275834
|
0.00001
|
GRCh37/hg19 15q21.1(chr15:48703187-48714265)
|
|
|
GRCh37/hg19 15q21.1(chr15:48703187-48766574)
|
|
|
GRCh37/hg19 15q21.1(chr15:48703187-48937906)
|
|
|
GRCh37/hg19 15q21.1(chr15:48707733-48758055)
|
|
|
GRCh37/hg19 15q21.1(chr15:48720543-48730114)
|
|
|
GRCh37/hg19 15q21.1(chr15:48722868-48726910)
|
|
|
GRCh37/hg19 15q21.1(chr15:48725063-48784783)
|
|
|
GRCh37/hg19 15q21.1(chr15:48725063-48892431)
|
|
|
GRCh37/hg19 15q21.1(chr15:48736739-48736857)
|
|
|
GRCh37/hg19 15q21.1(chr15:48777571-48791235)
|
|
|
GRCh37/hg19 15q21.1(chr15:48782048-48782275)
|
|
|
GRCh37/hg19 15q21.1(chr15:48789463-48791235)
|
|
|
GRCh37/hg19 15q21.1(chr15:48902925-48937906)
|
|
|
NC_000015.10:g.(48494255_48495122)_(48499039_48503786)del
|
|
|
NC_000015.10:g.(?_48410970)_(48412763_?)del
|
|
|
NC_000015.10:g.(?_48410980)_(48411389_?)del
|
|
|
NC_000015.10:g.(?_48410980)_(48465868_?)del
|
|
|
NC_000015.10:g.(?_48415161)_(48415777_?)del
|
|
|
NC_000015.10:g.(?_48415161)_(48468554_?)del
|
|
|
NC_000015.10:g.(?_48425359)_(48441856_?)del
|
|
|
NC_000015.10:g.(?_48428336)_(48474660_?)del
|
|
|
NC_000015.10:g.(?_48434584)_(48434723_?)del
|
|
|
NC_000015.10:g.(?_48434584)_(48437927_?)del
|
|
|
NC_000015.10:g.(?_48444521)_(48445524_?)del
|
|
|
NC_000015.10:g.(?_48444531)_(48444670_?)del
|
|
|
NC_000015.10:g.(?_48444531)_(48448903_?)del
|
|
|
NC_000015.10:g.(?_48446696)_(48446910_?)del
|
|
|
NC_000015.10:g.(?_48460226)_(48460337_?)del
|
|
|
NC_000015.10:g.(?_48470634)_(48470756_?)del
|
|
|
NC_000015.10:g.(?_48492451)_(48492596_?)del
|
|
|
NC_000015.10:g.(?_48503777)_(48516372_?)del
|
|
|
NC_000015.10:g.(?_48503777)_(48613102_?)del
|
|
|
NC_000015.10:g.(?_48508562)_(48516382_?)del
|
|
|
NC_000015.10:g.(?_48508572)_(48510179_?)del
|
|
|
NC_000015.10:g.(?_48596273)_(48613102_?)del
|
|
|
NC_000015.10:g.(?_48596273)_(48613102_?)dup
|
|
|
NC_000015.10:g.(?_48610708)_(48613112_?)del
|
|
|
NC_000015.10:g.(?_48613000)_(48644779_?)del
|
|
|
NC_000015.10:g.(?_48644596)_(48644779_?)del
|
|
|
NC_000015.9:g.(?_48695060)_(48703482_?)del
|
|
|
NC_000015.9:g.(?_48703167)_(48726930_?)dup
|
|
|
NC_000015.9:g.(?_48703177)_(48726920_?)dup
|
|
|
NC_000015.9:g.(?_48703177)_(48830015_?)del
|
|
|
NC_000015.9:g.(?_48703181)_(48744887_?)del
|
|
|
NC_000015.9:g.(?_48703187)_(48707984_?)del
|
|
|
NC_000015.9:g.(?_48703187)_(48713903_?)del
|
|
|
NC_000015.9:g.(?_48703187)_(48714285_?)del
|
|
|
NC_000015.9:g.(?_48703187)_(48741110_?)del
|
|
|
NC_000015.9:g.(?_48703187)_(48748979_?)dup
|
|
|
NC_000015.9:g.(?_48703187)_(48936966_?)del
|
|
|
NC_000015.9:g.(?_48703187)_(48936966_?)dup
|
|
|
NC_000015.9:g.(?_48704746)_(48713023_?)dup
|
|
|
NC_000015.9:g.(?_48707358)_(48714275_?)del
|
|
|
NC_000015.9:g.(?_48717965)_(48720525_?)del
|
|
|
NC_000015.9:g.(?_48720523)_(48725205_?)del
|
|
|
NC_000015.9:g.(?_48722912)_(48727571_?)del
|
|
|
NC_000015.9:g.(?_48726874)_(48728050_?)del
|
|
|
NC_000015.9:g.(?_48729138)_(48730134_?)dup
|
|
|
NC_000015.9:g.(?_48729138)_(48734063_?)del
|
|
|
NC_000015.9:g.(?_48729138)_(48748979_?)del
|
|
|
NC_000015.9:g.(?_48733898)_(48734063_?)del
|
|
|
NC_000015.9:g.(?_48736718)_(48736877_?)del
|
|
|
NC_000015.9:g.(?_48760115)_(48760319_?)dup
|
|
|
NC_000015.9:g.(?_48762825)_(48762959_?)del
|
|
|
NC_000015.9:g.(?_48766715)_(48766857_?)del
|
|
|
NC_000015.9:g.(?_48773832)_(48936966_?)del
|
|
|
NC_000015.9:g.(?_48781877)_(48782069_?)del
|
|
|
NC_000015.9:g.(?_48782167)_(48927084_?)del
|
|
|
NC_000015.9:g.(?_48791031)_48829849del
|
|
|
NC_000015.9:g.(?_48791162)_(48791255_?)del
|
|
|
NC_000015.9:g.(?_48791162)_(48830025_?)del
|
|
|
NC_000015.9:g.(?_48791162)_(48936966_?)del
|
|
|
NC_000015.9:g.(?_48795974)_(48830015_?)del
|
|
|
NC_000015.9:g.(?_48802221)_(48936966_?)del
|
|
|
NC_000015.9:g.(?_48805726)_(48808579_?)del
|
|
|
NC_000015.9:g.(?_48805726)_(48813034_?)del
|
|
|
NC_000015.9:g.(?_48805736)_(48936976_?)del
|
|
|
NC_000015.9:g.(?_48812846)_(48905299_?)dup
|
|
|
NC_000015.9:g.(?_48826267)_(48936976_?)del
|
|
|
NC_000015.9:g.(?_48888460)_(48888595_?)del
|
|
|
NC_000015.9:g.(?_48888460)_(48905309_?)del
|
|
|
NC_000015.9:g.(?_48888460)_(48905309_?)dup
|
|
|
NC_000015.9:g.(?_48902905)_(48936966_?)del
|
|
|
NC_000015.9:g.(?_48902915)_(48905299_?)del
|
|
|
NC_000015.9:g.(?_48936783)_(48936966_?)del
|
|
|
NC_000015.9:g.48703187_48748959del45773
|
|
|
NG_008805.2:g.(135403_137120)_(206249_208942)del
|
|
|
NM_000138.3:c.(5065+1_5066-1)_(5545+1_5546-1)del
|
|
|
NM_000138.4(FBN1):c.(?_4473)_(8280_?)del
|
|
|
NM_000138.4(FBN1):c.(?_5475)_(5542_?)del
|
|
|
NM_000138.4(FBN1):c.-371T>C
|
rs886051257
|
|
NM_000138.4(FBN1):c.-389_-388TC[1]
|
rs886051258
|
|
NM_000138.4(FBN1):c.-400A>T
|
rs1890299170
|
|
NM_000138.4(FBN1):c.1888_1889delinsC (p.Asn630fs)
|
rs1060501058
|
|
NM_000138.4(FBN1):c.2471_2474delinsAATAAA (p.Ser824_Pro825delinsLysTer)
|
rs1566911724
|
|
NM_000138.4(FBN1):c.2682_2692delinsTTTACC (p.Ile895fs)
|
rs1555399095
|
|
NM_000138.4(FBN1):c.305_306delinsAA (p.Cys102Ter)
|
rs1555405530
|
|
NM_000138.4(FBN1):c.3232_3236delinsATCTC (p.Pro1078_Asp1079delinsIleSer)
|
rs1555398643
|
|
NM_000138.4(FBN1):c.3465_3466delinsAAG (p.Asp1155fs)
|
rs1555398527
|
|
NM_000138.4(FBN1):c.4821delinsCA (p.Asp1608fs)
|
rs1555397007
|
|
NM_000138.4(FBN1):c.5225_5249del
|
rs1555396635
|
|
NM_000138.4(FBN1):c.5225_5296del
|
rs1566902526
|
|
NM_000138.4(FBN1):c.5362_5364delinsGACT (p.Ser1788fs)
|
rs1566901605
|
|
NM_000138.4(FBN1):c.5423-?_*2684+?del
|
|
|
NM_000138.4(FBN1):c.5470_5471delinsAT (p.Cys1824Ile)
|
rs1555396205
|
|
NM_000138.4(FBN1):c.5593_5594dup (p.Ile1866fs)
|
rs886043709
|
|
NM_000138.4(FBN1):c.6038_6163del
|
rs1566897376
|
|
NM_000138.4(FBN1):c.6497_6616del
|
rs1566895223
|
|
NM_000138.4(FBN1):c.6740_6871del
|
rs1566894226
|
|
NM_000138.4(FBN1):c.7703_7708delTGGACG
|
rs1060501015
|
|
NM_000138.4(FBN1):c.7930delGins34 (p.?)
|
|
|
NM_000138.4(FBN1):c.8051delinsTT (p.Gly2684fs)
|
rs1555393824
|
|
NM_000138.5(FBN1):c.*1007G>T
|
rs886051236
|
|
NM_000138.5(FBN1):c.*107A>G
|
rs562749473
|
|
NM_000138.5(FBN1):c.*1122C>T
|
rs2042846511
|
|
NM_000138.5(FBN1):c.*1201T>G
|
rs574181586
|
|
NM_000138.5(FBN1):c.*1396C>T
|
rs886051235
|
|
NM_000138.5(FBN1):c.*1477C>A
|
rs886051233
|
|
NM_000138.5(FBN1):c.*1562G>T
|
rs78442438
|
|
NM_000138.5(FBN1):c.*1635C>A
|
rs886051232
|
|
NM_000138.5(FBN1):c.*1733A>G
|
rs886051230
|
|
NM_000138.5(FBN1):c.*1943G>T
|
rs886051229
|
|
NM_000138.5(FBN1):c.*1950dup
|
rs535798341
|
|
NM_000138.5(FBN1):c.*2078G>T
|
rs886051228
|
|
NM_000138.5(FBN1):c.*2114T>A
|
rs886051227
|
|
NM_000138.5(FBN1):c.*2260C>A
|
rs886051225
|
|
NM_000138.5(FBN1):c.*235T>C
|
rs1597506366
|
|
NM_000138.5(FBN1):c.*2421C>A
|
rs886051224
|
|
NM_000138.5(FBN1):c.*2443G>T
|
rs886051223
|
|
NM_000138.5(FBN1):c.*2533C>A
|
rs886051222
|
|
NM_000138.5(FBN1):c.*2578C>T
|
rs761025257
|
|
NM_000138.5(FBN1):c.*2594G>T
|
rs886051220
|
|
NM_000138.5(FBN1):c.*2638T>C
|
rs886051219
|
|
NM_000138.5(FBN1):c.*268G>C
|
rs886051242
|
|
NM_000138.5(FBN1):c.*286C>T
|
rs886051241
|
|
NM_000138.5(FBN1):c.*311G>A
|
rs894774727
|
|
NM_000138.5(FBN1):c.*325T>C
|
rs537909430
|
|
NM_000138.5(FBN1):c.*399C>A
|
rs2042852375
|
|
NM_000138.5(FBN1):c.*406G>T
|
rs886051240
|
|
NM_000138.5(FBN1):c.*724A>C
|
rs886051239
|
|
NM_000138.5(FBN1):c.*938G>T
|
rs886051238
|
|
NM_000138.5(FBN1):c.*948G>T
|
rs749224599
|
|
NM_000138.5(FBN1):c.*960del
|
rs527621676
|
|
NM_000138.5(FBN1):c.*967C>T
|
rs56024388
|
|
NM_000138.5(FBN1):c.*987C>T
|
rs886051237
|
|
NM_000138.5(FBN1):c.-35C>T
|
rs199781948
|
|
NM_000138.5(FBN1):c.102G>C (p.Val34=)
|
|
|
NM_000138.5(FBN1):c.109A>T (p.Thr37Ser)
|
rs1890260265
|
|
NM_000138.5(FBN1):c.112A>G (p.Arg38Gly)
|
|
|
NM_000138.5(FBN1):c.112A>T (p.Arg38Ter)
|
rs1355716557
|
|
NM_000138.5(FBN1):c.1148-16T>C
|
|
|
NM_000138.5(FBN1):c.1148-16del
|
|
|
NM_000138.5(FBN1):c.1148-2A>G
|
rs397515756
|
|
NM_000138.5(FBN1):c.1148-6T>C
|
|
|
NM_000138.5(FBN1):c.114del (p.Ala39fs)
|
|
|
NM_000138.5(FBN1):c.1155_1165del (p.Phe385fs)
|
|
|
NM_000138.5(FBN1):c.1156A>C (p.Asn386His)
|
rs1597581597
|
|
NM_000138.5(FBN1):c.1156_1167del (p.Asn386_Cys389del)
|
rs672601352
|
|
NM_000138.5(FBN1):c.1158C>G (p.Asn386Lys)
|
rs368737502
|
|
NM_000138.5(FBN1):c.1164G>T (p.Leu388=)
|
|
|
NM_000138.5(FBN1):c.1165dup (p.Cys389fs)
|
|
|
NM_000138.5(FBN1):c.1167C>A (p.Cys389Ter)
|
rs746201757
|
|
NM_000138.5(FBN1):c.1168T>C (p.Ser390Pro)
|
rs779113310
|
|
NM_000138.5(FBN1):c.1175C>G (p.Pro392Arg)
|
rs534127494
|
|
NM_000138.5(FBN1):c.1175C>T (p.Pro392Leu)
|
rs534127494
|
|
NM_000138.5(FBN1):c.1178T>C (p.Met393Thr)
|
|
|
NM_000138.5(FBN1):c.1185dup (p.Pro396fs)
|
rs2043801575
|
|
NM_000138.5(FBN1):c.1188_1206del (p.Gly397fs)
|
|
|
NM_000138.5(FBN1):c.1192A>T (p.Arg398Ter)
|
rs397515754
|
|
NM_000138.5(FBN1):c.1193G>A (p.Arg398Lys)
|
rs886051250
|
|
NM_000138.5(FBN1):c.1195C>G (p.Pro399Ala)
|
rs886039155
|
|
NM_000138.5(FBN1):c.1196C>T (p.Pro399Leu)
|
rs1363393532
|
|
NM_000138.5(FBN1):c.1200A>G (p.Glu400=)
|
|
|
NM_000138.5(FBN1):c.1200del (p.Glu400fs)
|
|
|
NM_000138.5(FBN1):c.1201T>A (p.Tyr401Asn)
|
|
|
NM_000138.5(FBN1):c.1202A>G (p.Tyr401Cys)
|
rs2141331103
|
|
NM_000138.5(FBN1):c.1205C>T (p.Pro402Leu)
|
rs1597581542
|
|
NM_000138.5(FBN1):c.1211C>A (p.Pro404Gln)
|
rs779930519
|
|
NM_000138.5(FBN1):c.1211C>G (p.Pro404Arg)
|
rs779930519
|
|
NM_000138.5(FBN1):c.1211C>T (p.Pro404Leu)
|
rs779930519
|
|
NM_000138.5(FBN1):c.1211del (p.Pro404fs)
|
rs112289537
|
|
NM_000138.5(FBN1):c.1216del (p.Gly407fs)
|
rs2141331057
|
|
NM_000138.5(FBN1):c.1220del (p.Gly407fs)
|
|
|
NM_000138.5(FBN1):c.1226T>G (p.Ile409Ser)
|
|
|
NM_000138.5(FBN1):c.122G>C (p.Arg41Pro)
|
rs1890259872
|
|
NM_000138.5(FBN1):c.1231C>T (p.Pro411Ser)
|
rs2141331032
|
|
NM_000138.5(FBN1):c.1239C>T (p.Leu413=)
|
rs1308682011
|
|
NM_000138.5(FBN1):c.1245del (p.Pro416fs)
|
rs2141331000
|
|
NM_000138.5(FBN1):c.124del (p.Ala42fs)
|
rs1555407414
|
|
NM_000138.5(FBN1):c.1262C>T (p.Pro421Leu)
|
|
|
NM_000138.5(FBN1):c.1266A>T (p.Gly422=)
|
rs2141330973
|
|
NM_000138.5(FBN1):c.126C>G (p.Ala42=)
|
|
|
NM_000138.5(FBN1):c.126del (p.Lys43fs)
|
rs1566944839
|
|
NM_000138.5(FBN1):c.1270C>A (p.Gln424Lys)
|
|
|
NM_000138.5(FBN1):c.1270C>T (p.Gln424Ter)
|
rs1439533354
|
|
NM_000138.5(FBN1):c.1273A>G (p.Ile425Val)
|
|
|
NM_000138.5(FBN1):c.1278G>A (p.Pro426=)
|
rs113245313
|
|
NM_000138.5(FBN1):c.1278G>T (p.Pro426=)
|
rs113245313
|
|
NM_000138.5(FBN1):c.127A>T (p.Lys43Ter)
|
rs751270801
|
|
NM_000138.5(FBN1):c.1281C>A (p.Val427=)
|
rs759949880
|
|
NM_000138.5(FBN1):c.1281C>G (p.Val427=)
|
rs759949880
|
|
NM_000138.5(FBN1):c.1285C>T (p.Arg429Ter)
|
rs112645512
|
|
NM_000138.5(FBN1):c.1286G>A (p.Arg429Gln)
|
rs368089138
|
|
NM_000138.5(FBN1):c.1286G>C (p.Arg429Pro)
|
|
|
NM_000138.5(FBN1):c.1286G>T (p.Arg429Leu)
|
rs368089138
|
|
NM_000138.5(FBN1):c.1287dup (p.Pro430fs)
|
rs1555400410
|
|
NM_000138.5(FBN1):c.1288C>A (p.Pro430Thr)
|
rs2043799392
|
|
NM_000138.5(FBN1):c.128A>C (p.Lys43Thr)
|
rs766081333
|
|
NM_000138.5(FBN1):c.1299dup (p.Tyr434fs)
|
rs2141330877
|
|
NM_000138.5(FBN1):c.1302T>A (p.Tyr434Ter)
|
rs1566916969
|
|
NM_000138.5(FBN1):c.1305G>A (p.Leu435=)
|
rs769895864
|
|
NM_000138.5(FBN1):c.1311A>G (p.Pro437=)
|
rs1253494702
|
|
NM_000138.5(FBN1):c.1313C>G (p.Ser438Cys)
|
rs2043799037
|
|
NM_000138.5(FBN1):c.1313C>T (p.Ser438Phe)
|
rs2043799037
|
|
NM_000138.5(FBN1):c.1318G>T (p.Glu440Ter)
|
rs1555400406
|
|
NM_000138.5(FBN1):c.131G>A (p.Arg44Lys)
|
rs1890259213
|
|
NM_000138.5(FBN1):c.1321C>A (p.Pro441Thr)
|
|
|
NM_000138.5(FBN1):c.1322C>T (p.Pro441Leu)
|
|
|
NM_000138.5(FBN1):c.1324C>T (p.Pro442Ser)
|
|
|
NM_000138.5(FBN1):c.1327+7A>G
|
rs529150174
|
|
NM_000138.5(FBN1):c.1328-15T>G
|
rs2043793958
|
|
NM_000138.5(FBN1):c.1328-9T>A
|
rs1209671382
|
|
NM_000138.5(FBN1):c.132A>T (p.Arg44Ser)
|
rs1890259134
|
|
NM_000138.5(FBN1):c.1335G>T (p.Leu445=)
|
|
|
NM_000138.5(FBN1):c.1335dup (p.Pro446fs)
|
rs730880356
|
|
NM_000138.5(FBN1):c.1338del (p.Pro446_Val447insTer)
|
|
|
NM_000138.5(FBN1):c.133A>G (p.Arg45Gly)
|
rs1597652333
|
|
NM_000138.5(FBN1):c.135A>G (p.Arg45=)
|
rs2140787554
|
|
NM_000138.5(FBN1):c.1360C>T (p.Gln454Ter)
|
rs1555400387
|
|
NM_000138.5(FBN1):c.1369C>T (p.Arg457Cys)
|
rs2141330047
|
|
NM_000138.5(FBN1):c.1378T>A (p.Cys460Ser)
|
rs1597581005
|
|
NM_000138.5(FBN1):c.1379G>A (p.Cys460Tyr)
|
rs1597581001
|
|
NM_000138.5(FBN1):c.1390C>A (p.Arg464Ser)
|
rs587782943
|
|
NM_000138.5(FBN1):c.1390C>T (p.Arg464Cys)
|
rs587782943
|
|
NM_000138.5(FBN1):c.1391del (p.Arg464fs)
|
rs1555400385
|
|
NM_000138.5(FBN1):c.139G>T (p.Gly47Cys)
|
rs762400500
|
|
NM_000138.5(FBN1):c.1400dup (p.Thr468fs)
|
rs1597580984
|
|
NM_000138.5(FBN1):c.1402A>G (p.Thr468Ala)
|
rs2043792730
|
|
NM_000138.5(FBN1):c.1410del (p.Ser471fs)
|
rs1555400383
|
|
NM_000138.5(FBN1):c.1415= (p.Tyr472=)
|
rs113936729
|
|
NM_000138.5(FBN1):c.1418G>A (p.Arg473Gln)
|
|
|
NM_000138.5(FBN1):c.1420T>G (p.Cys474Gly)
|
rs1555400380
|
|
NM_000138.5(FBN1):c.1421G>T (p.Cys474Phe)
|
rs794728166
|
|
NM_000138.5(FBN1):c.1422del (p.Cys474fs)
|
rs1555400379
|
|
NM_000138.5(FBN1):c.1426T>C (p.Cys476Arg)
|
rs794728326
|
|
NM_000138.5(FBN1):c.1426T>G (p.Cys476Gly)
|
rs794728326
|
|
NM_000138.5(FBN1):c.1427G>A (p.Cys476Tyr)
|
rs2043792070
|
|
NM_000138.5(FBN1):c.1428C>G (p.Cys476Trp)
|
|
|
NM_000138.5(FBN1):c.1436G>A (p.Gly479Glu)
|
rs1247260475
|
|
NM_000138.5(FBN1):c.143G>A (p.Gly48Glu)
|
|
|
NM_000138.5(FBN1):c.1443dup (p.Leu482fs)
|
|
|
NM_000138.5(FBN1):c.1448A>C (p.Asp483Ala)
|
|
|
NM_000138.5(FBN1):c.1453C>T (p.Arg485Cys)
|
rs137854485
|
|
NM_000138.5(FBN1):c.1457G>A (p.Gly486Glu)
|
rs1597580913
|
|
NM_000138.5(FBN1):c.1461G>A (p.Glu487=)
|
|
|
NM_000138.5(FBN1):c.1462T>C (p.Cys488Arg)
|
rs1555400373
|
|
NM_000138.5(FBN1):c.1462T>G (p.Cys488Gly)
|
rs1555400373
|
|
NM_000138.5(FBN1):c.1463G>A (p.Cys488Tyr)
|
rs1555400372
|
|
NM_000138.5(FBN1):c.1463G>T (p.Cys488Phe)
|
rs1555400372
|
|
NM_000138.5(FBN1):c.1464dup (p.Ile489fs)
|
|
|
NM_000138.5(FBN1):c.1468+12A>G
|
|
|
NM_000138.5(FBN1):c.1468+12A>T
|
|
|
NM_000138.5(FBN1):c.1468+15C>T
|
rs762023380
|
|
NM_000138.5(FBN1):c.1468+19G>A
|
|
|
NM_000138.5(FBN1):c.1468+1G>A
|
rs2141329822
|
|
NM_000138.5(FBN1):c.1468+1G>C
|
|
|
NM_000138.5(FBN1):c.1468+1G>T
|
|
|
NM_000138.5(FBN1):c.1468+2T>C
|
rs794728167
|
|
NM_000138.5(FBN1):c.1468+2T>G
|
rs794728167
|
|
NM_000138.5(FBN1):c.1468+4C>A
|
rs765579667
|
|
NM_000138.5(FBN1):c.1468+5G>A
|
rs397515757
|
|
NM_000138.5(FBN1):c.1468+5del
|
|
|
NM_000138.5(FBN1):c.1468G>A (p.Asp490Asn)
|
rs1555400371
|
|
NM_000138.5(FBN1):c.1468G>T (p.Asp490Tyr)
|
rs1555400371
|
|
NM_000138.5(FBN1):c.1469-10T>C
|
|
|
NM_000138.5(FBN1):c.1469-14A>T
|
rs2043779369
|
|
NM_000138.5(FBN1):c.1469-2_1470dup
|
rs1597580040
|
|
NM_000138.5(FBN1):c.1469-5T>G
|
rs1060504144
|
|
NM_000138.5(FBN1):c.1469-6T>G
|
|
|
NM_000138.5(FBN1):c.146G>C (p.Gly49Ala)
|
rs1382204819
|
|
NM_000138.5(FBN1):c.1472T>C (p.Val491Ala)
|
rs2043779139
|
|
NM_000138.5(FBN1):c.1476T>C (p.Asp492=)
|
rs758967612
|
|
NM_000138.5(FBN1):c.1479del (p.Glu493fs)
|
|
|
NM_000138.5(FBN1):c.1480T>C (p.Cys494Arg)
|
|
|
NM_000138.5(FBN1):c.1481G>A (p.Cys494Tyr)
|
rs1057518881
|
|
NM_000138.5(FBN1):c.1481G>C (p.Cys494Ser)
|
rs1057518881
|
|
NM_000138.5(FBN1):c.1482T>G (p.Cys494Trp)
|
|
|
NM_000138.5(FBN1):c.1485dup (p.Lys496fs)
|
|
|
NM_000138.5(FBN1):c.1490del (p.Asn497fs)
|
|
|
NM_000138.5(FBN1):c.1494del (p.Cys499fs)
|
|
|
NM_000138.5(FBN1):c.1495T>A (p.Cys499Ser)
|
rs2043778680
|
|
NM_000138.5(FBN1):c.1495T>C (p.Cys499Arg)
|
|
|
NM_000138.5(FBN1):c.1495T>G (p.Cys499Gly)
|
rs2043778680
|
|
NM_000138.5(FBN1):c.1496G>A (p.Cys499Tyr)
|
rs587782944
|
|
NM_000138.5(FBN1):c.1498G>C (p.Ala500Pro)
|
rs886044236
|
|
NM_000138.5(FBN1):c.1502G>T (p.Gly501Val)
|
|
|
NM_000138.5(FBN1):c.1504G>T (p.Gly502Cys)
|
rs762111810
|
|
NM_000138.5(FBN1):c.1505del (p.Gly502fs)
|
rs2141327834
|
|
NM_000138.5(FBN1):c.1506T>C (p.Gly502=)
|
rs770426679
|
|
NM_000138.5(FBN1):c.150C>T (p.His50=)
|
rs1597652302
|
|
NM_000138.5(FBN1):c.1510T>A (p.Cys504Ser)
|
rs1555400288
|
|
NM_000138.5(FBN1):c.1510T>C (p.Cys504Arg)
|
rs1555400288
|
|
NM_000138.5(FBN1):c.1511G>A (p.Cys504Tyr)
|
rs1156747241
|
|
NM_000138.5(FBN1):c.1513A>G (p.Ile505Val)
|
rs2043778389
|
|
NM_000138.5(FBN1):c.1513_1520del (p.Ile505fs)
|
rs2141327809
|
|
NM_000138.5(FBN1):c.1520del (p.Asn507fs)
|
|
|
NM_000138.5(FBN1):c.1522C>T (p.Gln508Ter)
|
rs1057521859
|
|
NM_000138.5(FBN1):c.1523_1525del (p.Gln508_Gly509delinsArg)
|
|
|
NM_000138.5(FBN1):c.1524G>A (p.Gln508=)
|
|
|
NM_000138.5(FBN1):c.1524G>C (p.Gln508His)
|
rs1566916256
|
|
NM_000138.5(FBN1):c.1525G>T (p.Gly509Cys)
|
rs1060501073
|
|
NM_000138.5(FBN1):c.1526G>A (p.Gly509Asp)
|
|
|
NM_000138.5(FBN1):c.1526del (p.Gly509fs)
|
|
|
NM_000138.5(FBN1):c.1530G>A (p.Ser510=)
|
rs147511977
|
|
NM_000138.5(FBN1):c.1530G>T (p.Ser510=)
|
rs147511977
|
|
NM_000138.5(FBN1):c.1535C>T (p.Thr512Ile)
|
rs1555400280
|
|
NM_000138.5(FBN1):c.1536C>T (p.Thr512=)
|
rs1178360874
|
|
NM_000138.5(FBN1):c.1537T>C (p.Cys513Arg)
|
rs1555400279
|
|
NM_000138.5(FBN1):c.1537dup (p.Cys513fs)
|
rs1597579948
|
|
NM_000138.5(FBN1):c.1538G>C (p.Cys513Ser)
|
rs1060501036
|
|
NM_000138.5(FBN1):c.1538G>T (p.Cys513Phe)
|
rs1060501036
|
|
NM_000138.5(FBN1):c.153C>A (p.Asp51Glu)
|
rs1057524406
|
|
NM_000138.5(FBN1):c.1540C>T (p.Gln514Ter)
|
rs2141327746
|
|
NM_000138.5(FBN1):c.1542G>A (p.Gln514=)
|
|
|
NM_000138.5(FBN1):c.1546C>T (p.Arg516Ter)
|
rs113812345
|
|
NM_000138.5(FBN1):c.1552G>T (p.Gly518Ter)
|
rs794728168
|
|
NM_000138.5(FBN1):c.1553G>T (p.Gly518Val)
|
rs794728169
|
|
NM_000138.5(FBN1):c.1556A>G (p.Tyr519Cys)
|
rs1555400278
|
|
NM_000138.5(FBN1):c.1558C>T (p.Gln520Ter)
|
rs1597579923
|
|
NM_000138.5(FBN1):c.155_156delinsTT (p.Ala52Val)
|
rs2140787437
|
|
NM_000138.5(FBN1):c.1560G>A (p.Gln520=)
|
|
|
NM_000138.5(FBN1):c.1561_1562del (p.Ser521fs)
|
rs397515758
|
|
NM_000138.5(FBN1):c.1566A>T (p.Thr522=)
|
rs531264662
|
|
NM_000138.5(FBN1):c.1570_1571del (p.Thr524fs)
|
rs2043777735
|
|
NM_000138.5(FBN1):c.1570dup (p.Thr524fs)
|
rs1555400274
|
|
NM_000138.5(FBN1):c.1571del (p.Thr524fs)
|
rs886038817
|
|
NM_000138.5(FBN1):c.1572del (p.Arg525fs)
|
rs1060501096
|
|
NM_000138.5(FBN1):c.1573C>T (p.Arg525Trp)
|
rs768253008
|
|
NM_000138.5(FBN1):c.1575del (p.Thr526fs)
|
rs1555400268
|
|
NM_000138.5(FBN1):c.1576del (p.Thr526fs)
|
|
|
NM_000138.5(FBN1):c.1579G>T (p.Glu527Ter)
|
rs1555400267
|
|
NM_000138.5(FBN1):c.1584C>A (p.Cys528Ter)
|
|
|
NM_000138.5(FBN1):c.1585C>T (p.Arg529Ter)
|
rs137854476
|
|
NM_000138.5(FBN1):c.1588+10T>G
|
rs761924614
|
|
NM_000138.5(FBN1):c.1588+16C>T
|
|
|
NM_000138.5(FBN1):c.1588+1G>A
|
rs2141327634
|
|
NM_000138.5(FBN1):c.1588+20C>A
|
|
|
NM_000138.5(FBN1):c.1588+20C>G
|
|
|
NM_000138.5(FBN1):c.1588+9C>G
|
rs757843637
|
|
NM_000138.5(FBN1):c.1589-1217G>T
|
|
|
NM_000138.5(FBN1):c.1589-12C>G
|
|
|
NM_000138.5(FBN1):c.1589-14A>G
|
rs1566915335
|
|
NM_000138.5(FBN1):c.1589-1G>A
|
rs1555400077
|
|
NM_000138.5(FBN1):c.1589-1G>C
|
|
|
NM_000138.5(FBN1):c.1589-20T>G
|
|
|
NM_000138.5(FBN1):c.1589-5T>C
|
rs1371798538
|
|
NM_000138.5(FBN1):c.1589-7A>T
|
rs1467162544
|
|
NM_000138.5(FBN1):c.1589-8G>T
|
rs779629563
|
|
NM_000138.5(FBN1):c.1589A>G (p.Asp530Gly)
|
rs794728171
|
|
NM_000138.5(FBN1):c.1589A>T (p.Asp530Val)
|
|
|
NM_000138.5(FBN1):c.1595A>G (p.Asp532Gly)
|
rs745422205
|
|
NM_000138.5(FBN1):c.1597G>T (p.Glu533Ter)
|
|
|
NM_000138.5(FBN1):c.1599G>A (p.Glu533=)
|
|
|
NM_000138.5(FBN1):c.1600T>G (p.Cys534Gly)
|
|
|
NM_000138.5(FBN1):c.1601G>A (p.Cys534Tyr)
|
rs397515759
|
|
NM_000138.5(FBN1):c.1601G>C (p.Cys534Ser)
|
rs397515759
|
|
NM_000138.5(FBN1):c.1603T>G (p.Leu535Val)
|
|
|
NM_000138.5(FBN1):c.1606C>T (p.Gln536Ter)
|
rs1479709398
|
|
NM_000138.5(FBN1):c.1614C>T (p.Gly538=)
|
rs2141323481
|
|
NM_000138.5(FBN1):c.1616G>A (p.Arg539Gln)
|
|
|
NM_000138.5(FBN1):c.1617del (p.Ile540fs)
|
rs1555400066
|
|
NM_000138.5(FBN1):c.1621T>G (p.Cys541Gly)
|
rs111396594
|
|
NM_000138.5(FBN1):c.1622G>A (p.Cys541Tyr)
|
rs1555400064
|
|
NM_000138.5(FBN1):c.1622G>T (p.Cys541Phe)
|
rs1555400064
|
|
NM_000138.5(FBN1):c.1625A>G (p.Asn542Ser)
|
rs963564435
|
|
NM_000138.5(FBN1):c.1628A>T (p.Asn543Ile)
|
rs1060501098
|
|
NM_000138.5(FBN1):c.1630G>A (p.Gly544Arg)
|
rs1555400063
|
|
NM_000138.5(FBN1):c.1630G>C (p.Gly544Arg)
|
rs1555400063
|
|
NM_000138.5(FBN1):c.1633C>T (p.Arg545Cys)
|
rs730880099
|
|
NM_000138.5(FBN1):c.1634G>C (p.Arg545Pro)
|
rs193922179
|
|
NM_000138.5(FBN1):c.1636T>C (p.Cys546Arg)
|
rs1555400062
|
|
NM_000138.5(FBN1):c.1637G>A (p.Cys546Tyr)
|
|
|
NM_000138.5(FBN1):c.1638C>A (p.Cys546Ter)
|
rs2141323411
|
|
NM_000138.5(FBN1):c.1639A>C (p.Ile547Leu)
|
|
|
NM_000138.5(FBN1):c.164+13G>T
|
|
|
NM_000138.5(FBN1):c.164+16C>T
|
|
|
NM_000138.5(FBN1):c.164+1G>A
|
rs794728213
|
|
NM_000138.5(FBN1):c.164+1G>T
|
rs794728213
|
|
NM_000138.5(FBN1):c.164+1del
|
rs1555407399
|
|
NM_000138.5(FBN1):c.164+2T>C
|
rs727503058
|
|
NM_000138.5(FBN1):c.164+3A>C
|
rs1597652265
|
|
NM_000138.5(FBN1):c.164+3A>G
|
|
|
NM_000138.5(FBN1):c.1640T>A (p.Ile547Asn)
|
rs112269822
|
|
NM_000138.5(FBN1):c.1641C>A (p.Ile547=)
|
rs2141323402
|
|
NM_000138.5(FBN1):c.1643A>T (p.Asn548Ile)
|
rs137854462
|
|
NM_000138.5(FBN1):c.1646_1649delinsGT (p.Thr549fs)
|
rs1597577975
|
|
NM_000138.5(FBN1):c.164G>A (p.Gly55Glu)
|
rs2140787387
|
|
NM_000138.5(FBN1):c.165-14T>A
|
|
|
NM_000138.5(FBN1):c.165-1G>C
|
|
|
NM_000138.5(FBN1):c.165-2A>C
|
rs754351718
|
|
NM_000138.5(FBN1):c.165-32del
|
rs193922180
|
|
NM_000138.5(FBN1):c.165-3del
|
rs1436066063
|
|
NM_000138.5(FBN1):c.165-46CTT[2]
|
rs386134232
|
|
NM_000138.5(FBN1):c.165-8T>G
|
rs750029122
|
|
NM_000138.5(FBN1):c.1657T>A (p.Phe553Ile)
|
rs2043746162
|
|
NM_000138.5(FBN1):c.1659del (p.His554fs)
|
rs1566915277
|
|
NM_000138.5(FBN1):c.1661A>C (p.His554Pro)
|
|
|
NM_000138.5(FBN1):c.1662T>C (p.His554=)
|
|
|
NM_000138.5(FBN1):c.1663T>C (p.Cys555Arg)
|
rs2043746138
|
|
NM_000138.5(FBN1):c.1664G>A (p.Cys555Tyr)
|
rs794728172
|
|
NM_000138.5(FBN1):c.1664G>T (p.Cys555Phe)
|
rs794728172
|
|
NM_000138.5(FBN1):c.1665C>A (p.Cys555Ter)
|
rs531101773
|
|
NM_000138.5(FBN1):c.1665C>G (p.Cys555Trp)
|
rs531101773
|
|
NM_000138.5(FBN1):c.1666G>A (p.Val556Met)
|
rs1239988676
|
|
NM_000138.5(FBN1):c.1667_1677del (p.Val556fs)
|
|
|
NM_000138.5(FBN1):c.1669T>C (p.Cys557Arg)
|
rs2141323348
|
|
NM_000138.5(FBN1):c.1669_1677dup (p.Cys557_Ala559dup)
|
rs193922181
|
|
NM_000138.5(FBN1):c.1670G>A (p.Cys557Tyr)
|
rs1057521102
|
|
NM_000138.5(FBN1):c.1670G>T (p.Cys557Phe)
|
rs1057521102
|
|
NM_000138.5(FBN1):c.1671T>G (p.Cys557Trp)
|
rs2141323336
|
|
NM_000138.5(FBN1):c.1674T>C (p.Asn558=)
|
rs2141323328
|
|
NM_000138.5(FBN1):c.1678G>A (p.Gly560Ser)
|
rs1064794283
|
|
NM_000138.5(FBN1):c.1678G>T (p.Gly560Cys)
|
rs1064794283
|
|
NM_000138.5(FBN1):c.1679G>A (p.Gly560Asp)
|
rs1555400052
|
|
NM_000138.5(FBN1):c.1679G>T (p.Gly560Val)
|
rs1555400052
|
|
NM_000138.5(FBN1):c.1690dup (p.Thr564fs)
|
|
|
NM_000138.5(FBN1):c.1693C>G (p.Arg565Gly)
|
|
|
NM_000138.5(FBN1):c.169A>G (p.Asn57Asp)
|
rs2044669685
|
|
NM_000138.5(FBN1):c.1708T>C (p.Cys570Arg)
|
rs113902534
|
|
NM_000138.5(FBN1):c.1709G>A (p.Cys570Tyr)
|
rs1555400049
|
|
NM_000138.5(FBN1):c.1709G>C (p.Cys570Ser)
|
rs1555400049
|
|
NM_000138.5(FBN1):c.1709del (p.Cys570fs)
|
rs193922182
|
|
NM_000138.5(FBN1):c.170A>G (p.Asn57Ser)
|
rs2044669666
|
|
NM_000138.5(FBN1):c.1710T>G (p.Cys570Trp)
|
rs193922183
|
|
NM_000138.5(FBN1):c.1713A>G (p.Glu571=)
|
|
|
NM_000138.5(FBN1):c.1714+11T>C
|
|
|
NM_000138.5(FBN1):c.1714+13T>A
|
|
|
NM_000138.5(FBN1):c.1714+14A>G
|
|
|
NM_000138.5(FBN1):c.1714+1G>T
|
rs2043745437
|
|
NM_000138.5(FBN1):c.1714+2T>C
|
rs2141323212
|
|
NM_000138.5(FBN1):c.1714+2del
|
rs876657645
|
|
NM_000138.5(FBN1):c.1714+4A>G
|
rs1189850321
|
|
NM_000138.5(FBN1):c.1714+5T>C
|
rs2043745384
|
|
NM_000138.5(FBN1):c.1714+7A>G
|
|
|
NM_000138.5(FBN1):c.1714G>A (p.Asp572Asn)
|
rs2141323230
|
|
NM_000138.5(FBN1):c.1715-10G>A
|
rs764128146
|
|
NM_000138.5(FBN1):c.1715-15G>A
|
|
|
NM_000138.5(FBN1):c.1715-17A>G
|
|
|
NM_000138.5(FBN1):c.1715-1G>A
|
rs1555399977
|
|
NM_000138.5(FBN1):c.1715-2A>G
|
rs2043733370
|
|
NM_000138.5(FBN1):c.1715-8A>G
|
rs1555399978
|
|
NM_000138.5(FBN1):c.1715-9T>A
|
rs1057520813
|
|
NM_000138.5(FBN1):c.1715-9T>C
|
|
|
NM_000138.5(FBN1):c.1715A>G (p.Asp572Gly)
|
rs1555399976
|
|
NM_000138.5(FBN1):c.1715A>T (p.Asp572Val)
|
rs1555399976
|
|
NM_000138.5(FBN1):c.1717A>G (p.Met573Val)
|
|
|
NM_000138.5(FBN1):c.1720del (p.Asp574fs)
|
rs2141321697
|
|
NM_000138.5(FBN1):c.1723G>A (p.Glu575Lys)
|
rs1259811604
|
|
NM_000138.5(FBN1):c.1726T>A (p.Cys576Ser)
|
rs794728174
|
|
NM_000138.5(FBN1):c.1726T>G (p.Cys576Gly)
|
rs794728174
|
|
NM_000138.5(FBN1):c.1727G>A (p.Cys576Tyr)
|
rs1555399974
|
|
NM_000138.5(FBN1):c.1728C>G (p.Cys576Trp)
|
rs2043733087
|
|
NM_000138.5(FBN1):c.1732A>G (p.Ile578Val)
|
|
|
NM_000138.5(FBN1):c.1733T>G (p.Ile578Arg)
|
|
|
NM_000138.5(FBN1):c.1737del (p.Asn580fs)
|
|
|
NM_000138.5(FBN1):c.1741A>G (p.Met581Val)
|
|
|
NM_000138.5(FBN1):c.1744T>C (p.Cys582Arg)
|
rs2141321636
|
|
NM_000138.5(FBN1):c.1744T>G (p.Cys582Gly)
|
|
|
NM_000138.5(FBN1):c.1744_1745del (p.Cys582fs)
|
rs869025420
|
|
NM_000138.5(FBN1):c.1745G>A (p.Cys582Tyr)
|
rs2141321627
|
|
NM_000138.5(FBN1):c.1753G>A (p.Gly585Arg)
|
rs1085307528
|
|
NM_000138.5(FBN1):c.1754G>A (p.Gly585Glu)
|
rs1060501041
|
|
NM_000138.5(FBN1):c.1754G>C (p.Gly585Ala)
|
rs1060501041
|
|
NM_000138.5(FBN1):c.1759T>C (p.Cys587Arg)
|
rs1555399968
|
|
NM_000138.5(FBN1):c.1759T>G (p.Cys587Gly)
|
rs1555399968
|
|
NM_000138.5(FBN1):c.175T>C (p.Cys59Arg)
|
rs2140737589
|
|
NM_000138.5(FBN1):c.1760G>A (p.Cys587Tyr)
|
rs1555399963
|
|
NM_000138.5(FBN1):c.1761T>C (p.Cys587=)
|
rs1060504143
|
|
NM_000138.5(FBN1):c.1761T>G (p.Cys587Trp)
|
|
|
NM_000138.5(FBN1):c.1766A>G (p.Asn589Ser)
|
rs1555399962
|
|
NM_000138.5(FBN1):c.176G>T (p.Cys59Phe)
|
rs1555405673
|
|
NM_000138.5(FBN1):c.176del (p.Cys59fs)
|
rs1597633219
|
|
NM_000138.5(FBN1):c.1775G>A (p.Gly592Asp)
|
rs1555399959
|
|
NM_000138.5(FBN1):c.1782_1783insSVAelement
|
|
|
NM_000138.5(FBN1):c.1782del (p.Phe594fs)
|
rs1597577114
|
|
NM_000138.5(FBN1):c.1786T>C (p.Cys596Arg)
|
rs1057520131
|
|
NM_000138.5(FBN1):c.1786T>G (p.Cys596Gly)
|
rs1057520131
|
|
NM_000138.5(FBN1):c.1787G>A (p.Cys596Tyr)
|
rs2043732180
|
|
NM_000138.5(FBN1):c.1788T>A (p.Cys596Ter)
|
rs2141321569
|
|
NM_000138.5(FBN1):c.1791T>C (p.Ile597=)
|
|
|
NM_000138.5(FBN1):c.1792T>C (p.Cys598Arg)
|
|
|
NM_000138.5(FBN1):c.1792T>G (p.Cys598Gly)
|
rs2141321553
|
|
NM_000138.5(FBN1):c.1792del (p.Cys598fs)
|
rs2141321558
|
|
NM_000138.5(FBN1):c.1793G>A (p.Cys598Tyr)
|
rs1555399955
|
|
NM_000138.5(FBN1):c.1793G>C (p.Cys598Ser)
|
rs1555399955
|
|
NM_000138.5(FBN1):c.1793G>T (p.Cys598Phe)
|
rs1555399955
|
|
NM_000138.5(FBN1):c.1794C>G (p.Cys598Trp)
|
rs1555399954
|
|
NM_000138.5(FBN1):c.1801G>T (p.Gly601Ter)
|
rs1555399953
|
|
NM_000138.5(FBN1):c.1805T>C (p.Phe602Ser)
|
rs1555399952
|
|
NM_000138.5(FBN1):c.1805T>G (p.Phe602Cys)
|
|
|
NM_000138.5(FBN1):c.1809del (p.Gln603fs)
|
|
|
NM_000138.5(FBN1):c.1815A>G (p.Ala605=)
|
rs2141321499
|
|
NM_000138.5(FBN1):c.1817C>G (p.Ser606Ter)
|
rs794728176
|
|
NM_000138.5(FBN1):c.1822G>T (p.Gly608Ter)
|
|
|
NM_000138.5(FBN1):c.1823G>A (p.Gly608Glu)
|
rs368283028
|
|
NM_000138.5(FBN1):c.1823del (p.Gly608fs)
|
rs1555399949
|
|
NM_000138.5(FBN1):c.182C>G (p.Ser61Ter)
|
|
|
NM_000138.5(FBN1):c.1830T>C (p.Tyr610=)
|
rs1247219658
|
|
NM_000138.5(FBN1):c.1831T>C (p.Cys611Arg)
|
rs1555399944
|
|
NM_000138.5(FBN1):c.1832G>A (p.Cys611Tyr)
|
|
|
NM_000138.5(FBN1):c.1835A>G (p.Lys612Arg)
|
|
|
NM_000138.5(FBN1):c.1836_1837+2delinsGGG
|
rs2043731288
|
|
NM_000138.5(FBN1):c.1837+12A>G
|
|
|
NM_000138.5(FBN1):c.1837+1G>A
|
rs397515762
|
|
NM_000138.5(FBN1):c.1837+1G>T
|
rs397515762
|
|
NM_000138.5(FBN1):c.1837+2T>C
|
rs1555399940
|
|
NM_000138.5(FBN1):c.1837+5G>A
|
rs1445085747
|
|
NM_000138.5(FBN1):c.1837G>A (p.Asp613Asn)
|
rs1555399943
|
|
NM_000138.5(FBN1):c.1838-17G>A
|
|
|
NM_000138.5(FBN1):c.1838-17G>T
|
|
|
NM_000138.5(FBN1):c.1838-1G>A
|
rs1555399840
|
|
NM_000138.5(FBN1):c.1838-2A>G
|
rs2141317516
|
|
NM_000138.5(FBN1):c.1843_1845del (p.Asn615del)
|
rs1555399837
|
|
NM_000138.5(FBN1):c.1846G>A (p.Glu616Lys)
|
rs397515764
|
|
NM_000138.5(FBN1):c.1846G>C (p.Glu616Gln)
|
|
|
NM_000138.5(FBN1):c.1847A>G (p.Glu616Gly)
|
rs25457
|
|
NM_000138.5(FBN1):c.1847del (p.Glu616fs)
|
rs2141317487
|
|
NM_000138.5(FBN1):c.1849T>C (p.Cys617Arg)
|
rs1060501017
|
|
NM_000138.5(FBN1):c.1849T>G (p.Cys617Gly)
|
rs1060501017
|
|
NM_000138.5(FBN1):c.1849_1851del (p.Cys617del)
|
rs2141317465
|
|
NM_000138.5(FBN1):c.184C>T (p.Arg62Cys)
|
rs25403
|
|
NM_000138.5(FBN1):c.1850G>A (p.Cys617Tyr)
|
rs1555399836
|
|
NM_000138.5(FBN1):c.1850G>C (p.Cys617Ser)
|
rs1555399836
|
|
NM_000138.5(FBN1):c.1855del (p.Thr619fs)
|
rs2141317454
|
|
NM_000138.5(FBN1):c.1859del (p.Pro620fs)
|
|
|
NM_000138.5(FBN1):c.1860del (p.Ile622fs)
|
rs2141317442
|
|
NM_000138.5(FBN1):c.1862G>A (p.Gly621Glu)
|
rs1555399833
|
|
NM_000138.5(FBN1):c.1867_1868delinsCT (p.Cys623Leu)
|
rs2043697829
|
|
NM_000138.5(FBN1):c.1868G>A (p.Cys623Tyr)
|
rs1566914030
|
|
NM_000138.5(FBN1):c.1871T>C (p.Met624Thr)
|
rs1597575080
|
|
NM_000138.5(FBN1):c.1871T>G (p.Met624Arg)
|
rs1597575080
|
|
NM_000138.5(FBN1):c.1875_1876inv (p.Gly626Arg)
|
|
|
NM_000138.5(FBN1):c.1881_1883inv (p.Cys628Asn)
|
|
|
NM_000138.5(FBN1):c.1882T>C (p.Cys628Arg)
|
rs2141317350
|
|
NM_000138.5(FBN1):c.1883G>A (p.Cys628Tyr)
|
rs1555399825
|
|
NM_000138.5(FBN1):c.1883G>T (p.Cys628Phe)
|
rs1555399825
|
|
NM_000138.5(FBN1):c.1884C>G (p.Cys628Trp)
|
rs150421653
|
|
NM_000138.5(FBN1):c.1888A>C (p.Asn630His)
|
rs1555399821
|
|
NM_000138.5(FBN1):c.1888A>T (p.Asn630Tyr)
|
rs1555399821
|
|
NM_000138.5(FBN1):c.188A>G (p.Tyr63Cys)
|
rs1303389437
|
|
NM_000138.5(FBN1):c.1891A>C (p.Thr631Pro)
|
rs2043697314
|
|
NM_000138.5(FBN1):c.1897G>T (p.Gly633Cys)
|
rs2141317297
|
|
NM_000138.5(FBN1):c.189T>G (p.Tyr63Ter)
|
rs1597633183
|
|
NM_000138.5(FBN1):c.1900T>C (p.Ser634Pro)
|
rs1566914005
|
|
NM_000138.5(FBN1):c.1904A>G (p.Tyr635Cys)
|
rs1555399816
|
|
NM_000138.5(FBN1):c.1908A>G (p.Arg636=)
|
rs886039089
|
|
NM_000138.5(FBN1):c.1908A>T (p.Arg636Ser)
|
|
|
NM_000138.5(FBN1):c.1909T>C (p.Cys637Arg)
|
rs869025404
|
|
NM_000138.5(FBN1):c.1910G>A (p.Cys637Tyr)
|
rs1478695794
|
|
NM_000138.5(FBN1):c.1910G>C (p.Cys637Ser)
|
rs1478695794
|
|
NM_000138.5(FBN1):c.1912G>A (p.Glu638Lys)
|
rs2141317254
|
|
NM_000138.5(FBN1):c.1915T>A (p.Cys639Ser)
|
rs1060501078
|
|
NM_000138.5(FBN1):c.1915T>C (p.Cys639Arg)
|
rs1060501078
|
|
NM_000138.5(FBN1):c.1916G>A (p.Cys639Tyr)
|
rs878853676
|
|
NM_000138.5(FBN1):c.1916G>T (p.Cys639Phe)
|
rs878853676
|
|
NM_000138.5(FBN1):c.1916_1917delinsTG (p.Cys639Leu)
|
rs2043696899
|
|
NM_000138.5(FBN1):c.1928T>G (p.Leu643Arg)
|
rs1555399813
|
|
NM_000138.5(FBN1):c.1929_1930delinsTT (p.Ala644Ser)
|
rs1555399812
|
|
NM_000138.5(FBN1):c.192T>C (p.Asn64=)
|
|
|
NM_000138.5(FBN1):c.1936_1951dup (p.Val651fs)
|
rs2141317141
|
|
NM_000138.5(FBN1):c.1939C>G (p.Leu647Val)
|
|
|
NM_000138.5(FBN1):c.1940T>C (p.Leu647Pro)
|
rs1566913983
|
|
NM_000138.5(FBN1):c.1942del (p.Asp648fs)
|
|
|
NM_000138.5(FBN1):c.1944T>A (p.Asp648Glu)
|
rs2141317175
|
|
NM_000138.5(FBN1):c.1947C>T (p.Gly649=)
|
rs2141317155
|
|
NM_000138.5(FBN1):c.1948C>T (p.Arg650Cys)
|
rs193922185
|
|
NM_000138.5(FBN1):c.1948del (p.Arg650fs)
|
rs1566913982
|
|
NM_000138.5(FBN1):c.1948dup (p.Arg650fs)
|
rs1566913982
|
|
NM_000138.5(FBN1):c.1954T>C (p.Cys652Arg)
|
rs2043696438
|
|
NM_000138.5(FBN1):c.1955G>A (p.Cys652Tyr)
|
rs2043696418
|
|
NM_000138.5(FBN1):c.1956T>G (p.Cys652Trp)
|
rs1566913974
|
|
NM_000138.5(FBN1):c.1957_1958dup (p.Asp654fs)
|
rs886041350
|
|
NM_000138.5(FBN1):c.195T>C (p.Ala65=)
|
rs759873157
|
|
NM_000138.5(FBN1):c.1960+14A>G
|
|
|
NM_000138.5(FBN1):c.1960+15T>C
|
|
|
NM_000138.5(FBN1):c.1960+1G>C
|
rs1555399804
|
|
NM_000138.5(FBN1):c.1960+2T>C
|
rs1555399802
|
|
NM_000138.5(FBN1):c.1960+6A>T
|
rs1200860234
|
|
NM_000138.5(FBN1):c.1960+9A>G
|
|
|
NM_000138.5(FBN1):c.1960G>A (p.Asp654Asn)
|
|
|
NM_000138.5(FBN1):c.1960G>C (p.Asp654His)
|
rs1566913969
|
|
NM_000138.5(FBN1):c.1961-18A>G
|
|
|
NM_000138.5(FBN1):c.1961-1G>A
|
rs2043686634
|
|
NM_000138.5(FBN1):c.1961-3T>C
|
|
|
NM_000138.5(FBN1):c.1961-5T>C
|
rs919746497
|
|
NM_000138.5(FBN1):c.1962C>T (p.Asp654=)
|
|
|
NM_000138.5(FBN1):c.1962_1981delinsAG (p.Asp654_Cys661delinsGluGly)
|
rs1597574308
|
|
NM_000138.5(FBN1):c.1963A>G (p.Thr655Ala)
|
|
|
NM_000138.5(FBN1):c.1964C>T (p.Thr655Ile)
|
|
|
NM_000138.5(FBN1):c.1967A>G (p.His656Arg)
|
rs1555399777
|
|
NM_000138.5(FBN1):c.1968_1969del (p.Met657fs)
|
rs1555399775
|
|
NM_000138.5(FBN1):c.1969_1970del (p.Met657fs)
|
rs2141315944
|
|
NM_000138.5(FBN1):c.1970T>C (p.Met657Thr)
|
rs2043686451
|
|
NM_000138.5(FBN1):c.1973G>A (p.Arg658Gln)
|
rs794728181
|
|
NM_000138.5(FBN1):c.197A>G (p.Tyr66Cys)
|
rs774371494
|
|
NM_000138.5(FBN1):c.197A>T (p.Tyr66Phe)
|
|
|
NM_000138.5(FBN1):c.1980A>G (p.Thr660=)
|
rs531454879
|
|
NM_000138.5(FBN1):c.1981dup (p.Cys661fs)
|
rs2043686222
|
|
NM_000138.5(FBN1):c.1982G>A (p.Cys661Tyr)
|
rs1060501086
|
|
NM_000138.5(FBN1):c.1983C>G (p.Cys661Trp)
|
rs765018527
|
|
NM_000138.5(FBN1):c.1984T>G (p.Tyr662Asp)
|
|
|
NM_000138.5(FBN1):c.198C>G (p.Tyr66Ter)
|
rs2044669179
|
|
NM_000138.5(FBN1):c.198C>T (p.Tyr66=)
|
rs2044669179
|
|
NM_000138.5(FBN1):c.1992A>C (p.Gly664=)
|
|
|
NM_000138.5(FBN1):c.1995C>A (p.Tyr665Ter)
|
rs2141315893
|
|
NM_000138.5(FBN1):c.1995C>G (p.Tyr665Ter)
|
rs2141315893
|
|
NM_000138.5(FBN1):c.1998G>A (p.Lys666=)
|
|
|
NM_000138.5(FBN1):c.1999A>T (p.Arg667Ter)
|
rs2043685929
|
|
NM_000138.5(FBN1):c.199T>C (p.Cys67Arg)
|
rs2140737496
|
|
NM_000138.5(FBN1):c.1A>C (p.Met1Leu)
|
rs730880097
|
|
NM_000138.5(FBN1):c.1A>G (p.Met1Val)
|
rs730880097
|
|
NM_000138.5(FBN1):c.1A>T (p.Met1Leu)
|
rs730880097
|
|
NM_000138.5(FBN1):c.2003delinsTGTAT (p.Gly668fs)
|
rs1555399770
|
|
NM_000138.5(FBN1):c.2004C>T (p.Gly668=)
|
|
|
NM_000138.5(FBN1):c.2005C>T (p.Gln669Ter)
|
|
|
NM_000138.5(FBN1):c.2006A>C (p.Gln669Pro)
|
|
|
NM_000138.5(FBN1):c.2007G>A (p.Gln669=)
|
|
|
NM_000138.5(FBN1):c.2009_2018delinsTTGGTGCT (p.Cys670fs)
|
|
|
NM_000138.5(FBN1):c.200G>T (p.Cys67Phe)
|
rs2044669166
|
|
NM_000138.5(FBN1):c.201_203dup (p.Cys68dup)
|
rs1555405664
|
|
NM_000138.5(FBN1):c.2021del (p.Leu674fs)
|
|
|
NM_000138.5(FBN1):c.2022G>A (p.Leu674=)
|
|
|
NM_000138.5(FBN1):c.2022G>C (p.Leu674Phe)
|
rs794728182
|
|
NM_000138.5(FBN1):c.2022G>T (p.Leu674Phe)
|
rs794728182
|
|
NM_000138.5(FBN1):c.2023_2026del (p.Phe675fs)
|
rs886041349
|
|
NM_000138.5(FBN1):c.2026G>T (p.Gly676Cys)
|
rs2141315849
|
|
NM_000138.5(FBN1):c.2028_2029insA (p.Ala677fs)
|
rs1060501027
|
|
NM_000138.5(FBN1):c.202T>C (p.Cys68Arg)
|
rs113604459
|
|
NM_000138.5(FBN1):c.202dup (p.Cys68fs)
|
|
|
NM_000138.5(FBN1):c.2031T>A (p.Ala677=)
|
rs762312642
|
|
NM_000138.5(FBN1):c.2031T>C (p.Ala677=)
|
|
|
NM_000138.5(FBN1):c.2034_2052del (p.Thr679fs)
|
|
|
NM_000138.5(FBN1):c.203G>A (p.Cys68Tyr)
|
rs1597633163
|
|
NM_000138.5(FBN1):c.203G>T (p.Cys68Phe)
|
rs1597633163
|
|
NM_000138.5(FBN1):c.2044G>C (p.Glu682Gln)
|
rs908212152
|
|
NM_000138.5(FBN1):c.2049C>G (p.Cys683Trp)
|
|
|
NM_000138.5(FBN1):c.2050T>C (p.Cys684Arg)
|
rs1555399764
|
|
NM_000138.5(FBN1):c.2051G>A (p.Cys684Tyr)
|
rs1555399763
|
|
NM_000138.5(FBN1):c.2051G>C (p.Cys684Ser)
|
rs1555399763
|
|
NM_000138.5(FBN1):c.2051G>T (p.Cys684Phe)
|
rs1555399763
|
|
NM_000138.5(FBN1):c.2053T>A (p.Cys685Ser)
|
rs1597574236
|
|
NM_000138.5(FBN1):c.2053T>C (p.Cys685Arg)
|
rs1597574236
|
|
NM_000138.5(FBN1):c.2054G>A (p.Cys685Tyr)
|
rs1555399761
|
|
NM_000138.5(FBN1):c.2054dup (p.Cys685fs)
|
rs2141315799
|
|
NM_000138.5(FBN1):c.2055C>G (p.Cys685Trp)
|
rs140603
|
|
NM_000138.5(FBN1):c.2058_2063del (p.Ser687_Thr688del)
|
rs794728298
|
|
NM_000138.5(FBN1):c.2063_2064del (p.Thr688fs)
|
|
|
NM_000138.5(FBN1):c.2067G>A (p.Glu689=)
|
|
|
NM_000138.5(FBN1):c.206_208del (p.Pro69_Gly70delinsArg)
|
rs1555405660
|
|
NM_000138.5(FBN1):c.2071G>C (p.Ala691Pro)
|
rs794728183
|
|
NM_000138.5(FBN1):c.2080G>T (p.Glu694Ter)
|
rs1060501024
|
|
NM_000138.5(FBN1):c.2084C>A (p.Pro695His)
|
rs1555399754
|
|
NM_000138.5(FBN1):c.2085T>C (p.Pro695=)
|
rs2141315721
|
|
NM_000138.5(FBN1):c.2086T>G (p.Cys696Gly)
|
rs2141315718
|
|
NM_000138.5(FBN1):c.2087G>T (p.Cys696Phe)
|
rs1566913685
|
|
NM_000138.5(FBN1):c.2087del (p.Cys696fs)
|
rs2043684490
|
|
NM_000138.5(FBN1):c.2088C>A (p.Cys696Ter)
|
rs2141315709
|
|
NM_000138.5(FBN1):c.2089C>T (p.Gln697Ter)
|
rs1060501082
|
|
NM_000138.5(FBN1):c.208G>A (p.Gly70Arg)
|
rs2044669023
|
|
NM_000138.5(FBN1):c.2091G>T (p.Gln697His)
|
rs1555399752
|
|
NM_000138.5(FBN1):c.2094G>A (p.Pro698=)
|
rs144775475
|
|
NM_000138.5(FBN1):c.2096G>C (p.Cys699Ser)
|
rs2043684108
|
|
NM_000138.5(FBN1):c.2099C>T (p.Pro700Leu)
|
rs2141315649
|
|
NM_000138.5(FBN1):c.2099del (p.Pro700fs)
|
rs1597574166
|
|
NM_000138.5(FBN1):c.209G>T (p.Gly70Val)
|
|
|
NM_000138.5(FBN1):c.2100T>C (p.Pro700=)
|
|
|
NM_000138.5(FBN1):c.2103A>G (p.Ala701=)
|
rs2141315644
|
|
NM_000138.5(FBN1):c.210A>T (p.Gly70=)
|
|
|
NM_000138.5(FBN1):c.2111C>G (p.Ser704Ter)
|
rs2043683891
|
|
NM_000138.5(FBN1):c.2112A>C (p.Ser704=)
|
|
|
NM_000138.5(FBN1):c.2112A>T (p.Ser704=)
|
|
|
NM_000138.5(FBN1):c.2113+18_2113+19delinsAT
|
|
|
NM_000138.5(FBN1):c.2113+1G>A
|
rs1566913670
|
|
NM_000138.5(FBN1):c.2113+1G>C
|
rs1566913670
|
|
NM_000138.5(FBN1):c.2113+1G>T
|
rs1566913670
|
|
NM_000138.5(FBN1):c.2113+2T>C
|
rs730880105
|
|
NM_000138.5(FBN1):c.2113+2T>G
|
rs730880105
|
|
NM_000138.5(FBN1):c.2113+4T>C
|
rs2141315610
|
|
NM_000138.5(FBN1):c.2113G>A (p.Ala705Thr)
|
rs1597574156
|
|
NM_000138.5(FBN1):c.2114-15G>C
|
rs1566912665
|
|
NM_000138.5(FBN1):c.2114-1G>A
|
|
|
NM_000138.5(FBN1):c.2114-1G>C
|
rs1555399484
|
|
NM_000138.5(FBN1):c.2114-20T>C
|
|
|
NM_000138.5(FBN1):c.2114-2A>C
|
rs886041440
|
|
NM_000138.5(FBN1):c.2114-5T>G
|
|
|
NM_000138.5(FBN1):c.2114-7A>G
|
|
|
NM_000138.5(FBN1):c.2114C>T (p.Ala705Val)
|
rs1426292408
|
|
NM_000138.5(FBN1):c.2116G>T (p.Glu706Ter)
|
rs2141308933
|
|
NM_000138.5(FBN1):c.2118_2127del (p.Glu706fs)
|
rs1555399482
|
|
NM_000138.5(FBN1):c.211T>A (p.Trp71Arg)
|
rs1555405658
|
|
NM_000138.5(FBN1):c.211T>C (p.Trp71Arg)
|
rs1555405658
|
|
NM_000138.5(FBN1):c.211T>G (p.Trp71Gly)
|
rs1555405658
|
|
NM_000138.5(FBN1):c.2130dup (p.Cys711fs)
|
rs1597571391
|
|
NM_000138.5(FBN1):c.2131T>A (p.Cys711Ser)
|
rs1555399481
|
|
NM_000138.5(FBN1):c.2132G>A (p.Cys711Tyr)
|
|
|
NM_000138.5(FBN1):c.2132G>T (p.Cys711Phe)
|
|
|
NM_000138.5(FBN1):c.213G>A (p.Trp71Ter)
|
|
|
NM_000138.5(FBN1):c.2140G>A (p.Gly714Arg)
|
rs1566912644
|
|
NM_000138.5(FBN1):c.2140G>C (p.Gly714Arg)
|
rs1566912644
|
|
NM_000138.5(FBN1):c.2141G>A (p.Gly714Glu)
|
rs2141308882
|
|
NM_000138.5(FBN1):c.2143_2161del (p.Pro715fs)
|
rs1597571360
|
|
NM_000138.5(FBN1):c.2144C>T (p.Pro715Leu)
|
|
|
NM_000138.5(FBN1):c.2147G>A (p.Gly716Glu)
|
rs794728185
|
|
NM_000138.5(FBN1):c.2149_2150insGA (p.Met717fs)
|
rs2043633143
|
|
NM_000138.5(FBN1):c.2167+19A>C
|
|
|
NM_000138.5(FBN1):c.2167+1G>A
|
rs2141308781
|
|
NM_000138.5(FBN1):c.2167+2dup
|
rs2043632840
|
|
NM_000138.5(FBN1):c.2167+4A>G
|
rs2141308773
|
|
NM_000138.5(FBN1):c.2167G>T (p.Asp723Tyr)
|
rs1555399477
|
|
NM_000138.5(FBN1):c.2168-11T>C
|
|
|
NM_000138.5(FBN1):c.2168-15T>G
|
|
|
NM_000138.5(FBN1):c.2168-15dup
|
rs762586890
|
|
NM_000138.5(FBN1):c.2168-1G>C
|
rs1555399387
|
|
NM_000138.5(FBN1):c.2168-1G>T
|
rs1555399387
|
|
NM_000138.5(FBN1):c.2168-4G>A
|
rs2141306607
|
|
NM_000138.5(FBN1):c.2168-9G>T
|
rs747772665
|
|
NM_000138.5(FBN1):c.2168A>C (p.Asp723Ala)
|
rs137854463
|
|
NM_000138.5(FBN1):c.2170A>G (p.Ile724Val)
|
|
|
NM_000138.5(FBN1):c.2171T>A (p.Ile724Lys)
|
|
|
NM_000138.5(FBN1):c.2171T>C (p.Ile724Thr)
|
rs878853677
|
|
NM_000138.5(FBN1):c.2176G>C (p.Glu726Gln)
|
rs2141306581
|
|
NM_000138.5(FBN1):c.2176del (p.Glu726fs)
|
rs1555399385
|
|
NM_000138.5(FBN1):c.2177A>G (p.Glu726Gly)
|
|
|
NM_000138.5(FBN1):c.2179T>A (p.Cys727Ser)
|
rs1064794025
|
|
NM_000138.5(FBN1):c.217del (p.Thr73fs)
|
rs2140737430
|
|
NM_000138.5(FBN1):c.2180G>A (p.Cys727Tyr)
|
rs1555399381
|
|
NM_000138.5(FBN1):c.2186del (p.Leu729fs)
|
rs193922187
|
|
NM_000138.5(FBN1):c.2187A>G (p.Leu729=)
|
rs61730055
|
|
NM_000138.5(FBN1):c.2191C>G (p.Pro731Ala)
|
|
|
NM_000138.5(FBN1):c.2200T>C (p.Cys734Arg)
|
rs2141306513
|
|
NM_000138.5(FBN1):c.2201G>A (p.Cys734Tyr)
|
rs794728187
|
|
NM_000138.5(FBN1):c.2206A>G (p.Asn736Asp)
|
rs878853678
|
|
NM_000138.5(FBN1):c.2207A>G (p.Asn736Ser)
|
rs1566912242
|
|
NM_000138.5(FBN1):c.2213dup (p.Cys739fs)
|
rs1555399379
|
|
NM_000138.5(FBN1):c.2214_2217del (p.Ile738fs)
|
|
|
NM_000138.5(FBN1):c.2216G>A (p.Cys739Tyr)
|
rs1555399378
|
|
NM_000138.5(FBN1):c.2217T>G (p.Cys739Trp)
|
rs1008275504
|
|
NM_000138.5(FBN1):c.2219A>C (p.Glu740Ala)
|
rs2043616665
|
|
NM_000138.5(FBN1):c.2219A>G (p.Glu740Gly)
|
rs2043616665
|
|
NM_000138.5(FBN1):c.2222A>G (p.Asn741Ser)
|
|
|
NM_000138.5(FBN1):c.2222del (p.Asn741fs)
|
|
|
NM_000138.5(FBN1):c.2223C>A (p.Asn741Lys)
|
|
|
NM_000138.5(FBN1):c.2237A>G (p.Tyr746Cys)
|
rs1555399372
|
|
NM_000138.5(FBN1):c.223C>T (p.Pro75Ser)
|
rs886051252
|
|
NM_000138.5(FBN1):c.2241A>G (p.Lys747=)
|
rs1045070535
|
|
NM_000138.5(FBN1):c.2242T>C (p.Cys748Arg)
|
rs397515765
|
|
NM_000138.5(FBN1):c.2243G>A (p.Cys748Tyr)
|
rs1064794282
|
|
NM_000138.5(FBN1):c.2243del (p.Cys748fs)
|
rs1555399371
|
|
NM_000138.5(FBN1):c.2245A>C (p.Ile749Leu)
|
|
|
NM_000138.5(FBN1):c.2245A>G (p.Ile749Val)
|
rs1555399370
|
|
NM_000138.5(FBN1):c.2248T>C (p.Cys750Arg)
|
rs1555399368
|
|
NM_000138.5(FBN1):c.2249G>A (p.Cys750Tyr)
|
rs2043616369
|
|
NM_000138.5(FBN1):c.2249G>T (p.Cys750Phe)
|
|
|
NM_000138.5(FBN1):c.2254_2256del (p.Ser752del)
|
rs2043616319
|
|
NM_000138.5(FBN1):c.2258G>A (p.Gly753Glu)
|
rs1555399365
|
|
NM_000138.5(FBN1):c.2258G>T (p.Gly753Val)
|
rs1555399365
|
|
NM_000138.5(FBN1):c.2261A>G (p.Tyr754Cys)
|
rs137854479
|
|
NM_000138.5(FBN1):c.2268G>A (p.Val756=)
|
rs2141306354
|
|
NM_000138.5(FBN1):c.2269del (p.Asp757fs)
|
rs1064793636
|
|
NM_000138.5(FBN1):c.2273C>G (p.Ser758Ter)
|
|
|
NM_000138.5(FBN1):c.2275A>G (p.Thr759Ala)
|
rs2141306342
|
|
NM_000138.5(FBN1):c.2277T>C (p.Thr759=)
|
rs1028807052
|
|
NM_000138.5(FBN1):c.2277T>G (p.Thr759=)
|
|
|
NM_000138.5(FBN1):c.2286C>G (p.Asn762Lys)
|
rs2043616066
|
|
NM_000138.5(FBN1):c.2287T>C (p.Cys763Arg)
|
rs1555399361
|
|
NM_000138.5(FBN1):c.2287T>G (p.Cys763Gly)
|
rs1555399361
|
|
NM_000138.5(FBN1):c.2289C>A (p.Cys763Ter)
|
|
|
NM_000138.5(FBN1):c.2289C>G (p.Cys763Trp)
|
rs181311020
|
|
NM_000138.5(FBN1):c.228C>G (p.Gly76=)
|
rs141651917
|
|
NM_000138.5(FBN1):c.2292del (p.Asp765fs)
|
rs2141306307
|
|
NM_000138.5(FBN1):c.2293+14C>A
|
|
|
NM_000138.5(FBN1):c.2293+15C>T
|
|
|
NM_000138.5(FBN1):c.2293+17A>G
|
|
|
NM_000138.5(FBN1):c.2293+1G>A
|
rs1060501092
|
|
NM_000138.5(FBN1):c.2293+8G>A
|
|
|
NM_000138.5(FBN1):c.2293+8G>T
|
|
|
NM_000138.5(FBN1):c.2294-11T>A
|
|
|
NM_000138.5(FBN1):c.2294-18T>C
|
|
|
NM_000138.5(FBN1):c.2294-1G>C
|
|
|
NM_000138.5(FBN1):c.2294-20T>C
|
|
|
NM_000138.5(FBN1):c.2294-2A>G
|
|
|
NM_000138.5(FBN1):c.2294-3C>A
|
|
|
NM_000138.5(FBN1):c.2294-6_2294-5del
|
rs2043607725
|
|
NM_000138.5(FBN1):c.2294-9_2294-4del
|
rs1597569681
|
|
NM_000138.5(FBN1):c.2296A>G (p.Ile766Val)
|
|
|
NM_000138.5(FBN1):c.2296del (p.Ile766fs)
|
rs2141305162
|
|
NM_000138.5(FBN1):c.2298_2301del (p.Ile766fs)
|
rs1555399281
|
|
NM_000138.5(FBN1):c.229G>A (p.Gly77Arg)
|
rs794728290
|
|
NM_000138.5(FBN1):c.2302G>A (p.Glu768Lys)
|
|
|
NM_000138.5(FBN1):c.2302G>T (p.Glu768Ter)
|
|
|
NM_000138.5(FBN1):c.2303A>C (p.Glu768Ala)
|
rs794728189
|
|
NM_000138.5(FBN1):c.2305T>C (p.Cys769Arg)
|
rs1060501022
|
|
NM_000138.5(FBN1):c.2305_2315del (p.Cys769fs)
|
rs1566911957
|
|
NM_000138.5(FBN1):c.2306G>A (p.Cys769Tyr)
|
rs794728190
|
|
NM_000138.5(FBN1):c.2306G>T (p.Cys769Phe)
|
rs794728190
|
|
NM_000138.5(FBN1):c.2307T>G (p.Cys769Trp)
|
rs2141305134
|
|
NM_000138.5(FBN1):c.2311C>G (p.Leu771Val)
|
rs2043607479
|
|
NM_000138.5(FBN1):c.2315A>G (p.Asn772Ser)
|
rs2043607383
|
|
NM_000138.5(FBN1):c.2327G>A (p.Cys776Tyr)
|
rs1555399273
|
|
NM_000138.5(FBN1):c.2335G>A (p.Gly779Arg)
|
|
|
NM_000138.5(FBN1):c.2339A>C (p.Gln780Pro)
|
rs886039058
|
|
NM_000138.5(FBN1):c.2340A>G (p.Gln780=)
|
|
|
NM_000138.5(FBN1):c.2340del (p.Gln780fs)
|
rs1566911942
|
|
NM_000138.5(FBN1):c.2341T>A (p.Cys781Ser)
|
rs397515766
|
|
NM_000138.5(FBN1):c.2341T>C (p.Cys781Arg)
|
rs397515766
|
|
NM_000138.5(FBN1):c.2341T>G (p.Cys781Gly)
|
|
|
NM_000138.5(FBN1):c.2342G>A (p.Cys781Tyr)
|
rs1555399271
|
|
NM_000138.5(FBN1):c.2342del (p.Cys781fs)
|
|
|
NM_000138.5(FBN1):c.2343T>C (p.Cys781=)
|
rs199647257
|
|
NM_000138.5(FBN1):c.2343T>G (p.Cys781Trp)
|
|
|
NM_000138.5(FBN1):c.2348_2359del (p.Asn783_Gly786del)
|
rs2043606899
|
|
NM_000138.5(FBN1):c.2349T>A (p.Asn783Lys)
|
rs1057522903
|
|
NM_000138.5(FBN1):c.2352T>A (p.Thr784=)
|
rs2141305065
|
|
NM_000138.5(FBN1):c.2353_2355del (p.Pro785del)
|
rs1597569606
|
|
NM_000138.5(FBN1):c.2354C>A (p.Pro785His)
|
rs956678986
|
|
NM_000138.5(FBN1):c.2356G>A (p.Gly786Arg)
|
|
|
NM_000138.5(FBN1):c.2364dup (p.Val789fs)
|
|
|
NM_000138.5(FBN1):c.2368T>A (p.Cys790Ser)
|
rs1555399270
|
|
NM_000138.5(FBN1):c.2368T>C (p.Cys790Arg)
|
rs1555399270
|
|
NM_000138.5(FBN1):c.2368T>G (p.Cys790Gly)
|
|
|
NM_000138.5(FBN1):c.2369G>A (p.Cys790Tyr)
|
rs193922188
|
|
NM_000138.5(FBN1):c.2369G>C (p.Cys790Ser)
|
rs193922188
|
|
NM_000138.5(FBN1):c.2369G>T (p.Cys790Phe)
|
rs193922188
|
|
NM_000138.5(FBN1):c.2374T>C (p.Cys792Arg)
|
rs2141305039
|
|
NM_000138.5(FBN1):c.2375G>A (p.Cys792Tyr)
|
rs886038984
|
|
NM_000138.5(FBN1):c.2376C>T (p.Cys792=)
|
rs1060504142
|
|
NM_000138.5(FBN1):c.2377C>T (p.Pro793Ser)
|
|
|
NM_000138.5(FBN1):c.2379dup (p.Lys794fs)
|
rs1597569589
|
|
NM_000138.5(FBN1):c.237G>A (p.Gln79=)
|
|
|
NM_000138.5(FBN1):c.2384G>A (p.Gly795Glu)
|
|
|
NM_000138.5(FBN1):c.2384G>T (p.Gly795Val)
|
rs1555399267
|
|
NM_000138.5(FBN1):c.2384del (p.Gly795fs)
|
rs1566911908
|
|
NM_000138.5(FBN1):c.2385A>G (p.Gly795=)
|
rs1207115566
|
|
NM_000138.5(FBN1):c.2385A>T (p.Gly795=)
|
|
|
NM_000138.5(FBN1):c.238T>C (p.Cys80Arg)
|
rs111764111
|
|
NM_000138.5(FBN1):c.238T>G (p.Cys80Gly)
|
rs111764111
|
|
NM_000138.5(FBN1):c.2391C>T (p.Ile797=)
|
rs2141304992
|
|
NM_000138.5(FBN1):c.2397A>G (p.Lys799=)
|
|
|
NM_000138.5(FBN1):c.239G>A (p.Cys80Tyr)
|
rs397515767
|
|
NM_000138.5(FBN1):c.23_34del (p.Glu8_Leu11del)
|
|
|
NM_000138.5(FBN1):c.2404C>T (p.Leu802=)
|
|
|
NM_000138.5(FBN1):c.2407A>T (p.Lys803Ter)
|
rs397515768
|
|
NM_000138.5(FBN1):c.2410dup (p.Thr804fs)
|
rs1597569560
|
|
NM_000138.5(FBN1):c.2411C>T (p.Thr804Ile)
|
|
|
NM_000138.5(FBN1):c.2412_2413del (p.Thr804_Cys805insTer)
|
rs397515769
|
|
NM_000138.5(FBN1):c.2413T>C (p.Cys805Arg)
|
rs2043606316
|
|
NM_000138.5(FBN1):c.2414G>A (p.Cys805Tyr)
|
rs1597569553
|
|
NM_000138.5(FBN1):c.2415T>G (p.Cys805Trp)
|
rs1597569551
|
|
NM_000138.5(FBN1):c.2416G>A (p.Glu806Lys)
|
rs1555399258
|
|
NM_000138.5(FBN1):c.2418A>G (p.Glu806=)
|
rs794728191
|
|
NM_000138.5(FBN1):c.2419+16G>C
|
|
|
NM_000138.5(FBN1):c.2419+1G>A
|
rs1555399257
|
|
NM_000138.5(FBN1):c.2419+2T>G
|
rs1597569536
|
|
NM_000138.5(FBN1):c.2419G>A (p.Asp807Asn)
|
rs1566911886
|
|
NM_000138.5(FBN1):c.2420-1G>T
|
rs1555399214
|
|
NM_000138.5(FBN1):c.2420-2A>G
|
rs1060501052
|
|
NM_000138.5(FBN1):c.2420-8T>A
|
rs140582
|
|
NM_000138.5(FBN1):c.2422del (p.Ile808fs)
|
|
|
NM_000138.5(FBN1):c.2426A>G (p.Asp809Gly)
|
rs1555399211
|
|
NM_000138.5(FBN1):c.2431T>C (p.Cys811Arg)
|
|
|
NM_000138.5(FBN1):c.2432G>A (p.Cys811Tyr)
|
rs1555399210
|
|
NM_000138.5(FBN1):c.2433C>A (p.Cys811Ter)
|
rs193921256
|
|
NM_000138.5(FBN1):c.2433C>G (p.Cys811Trp)
|
rs193921256
|
|
NM_000138.5(FBN1):c.2434G>T (p.Glu812Ter)
|
rs201778577
|
|
NM_000138.5(FBN1):c.2438C>G (p.Ser813Ter)
|
rs1597569265
|
|
NM_000138.5(FBN1):c.2446T>C (p.Cys816Arg)
|
rs1555399206
|
|
NM_000138.5(FBN1):c.2447G>A (p.Cys816Tyr)
|
|
|
NM_000138.5(FBN1):c.2447G>C (p.Cys816Ser)
|
rs397515770
|
|
NM_000138.5(FBN1):c.2448C>G (p.Cys816Trp)
|
rs397515771
|
|
NM_000138.5(FBN1):c.244G>A (p.Val82Ile)
|
|
|
NM_000138.5(FBN1):c.2451T>G (p.Ile817Met)
|
|
|
NM_000138.5(FBN1):c.2458G>T (p.Val820Phe)
|
|
|
NM_000138.5(FBN1):c.2459T>C (p.Val820Ala)
|
|
|
NM_000138.5(FBN1):c.2462G>A (p.Cys821Tyr)
|
rs2043600123
|
|
NM_000138.5(FBN1):c.2467_2468insG (p.Asn823fs)
|
rs1555399204
|
|
NM_000138.5(FBN1):c.246C>G (p.Val82=)
|
|
|
NM_000138.5(FBN1):c.247+1G>A
|
rs25404
|
|
NM_000138.5(FBN1):c.247+1G>T
|
rs25404
|
|
NM_000138.5(FBN1):c.247+20G>A
|
rs2140737315
|
|
NM_000138.5(FBN1):c.247+2dup
|
rs397515772
|
|
NM_000138.5(FBN1):c.247+3A>C
|
rs201854371
|
|
NM_000138.5(FBN1):c.247+4del
|
|
|
NM_000138.5(FBN1):c.247+5G>A
|
rs2044668542
|
|
NM_000138.5(FBN1):c.247+5G>C
|
|
|
NM_000138.5(FBN1):c.247+9A>C
|
rs1298547542
|
|
NM_000138.5(FBN1):c.247+9A>G
|
rs1298547542
|
|
NM_000138.5(FBN1):c.2473C>T (p.Pro825Ser)
|
|
|
NM_000138.5(FBN1):c.2474del (p.Pro825fs)
|
rs1555399202
|
|
NM_000138.5(FBN1):c.2477G>A (p.Gly826Asp)
|
rs1555399200
|
|
NM_000138.5(FBN1):c.2479T>C (p.Ser827Pro)
|
rs193922189
|
|
NM_000138.5(FBN1):c.247C>T (p.Pro83Ser)
|
|
|
NM_000138.5(FBN1):c.248-3C>G
|
rs1555405537
|
|
NM_000138.5(FBN1):c.248-4A>G
|
rs1597631751
|
|
NM_000138.5(FBN1):c.2480C>G (p.Ser827Cys)
|
rs375382957
|
|
NM_000138.5(FBN1):c.2483_2500del (p.Phe828_Ser833del)
|
rs2141304189
|
|
NM_000138.5(FBN1):c.2488T>G (p.Cys830Gly)
|
rs397515773
|
|
NM_000138.5(FBN1):c.2489G>A (p.Cys830Tyr)
|
rs397515774
|
|
NM_000138.5(FBN1):c.2489G>C (p.Cys830Ser)
|
rs397515774
|
|
NM_000138.5(FBN1):c.2489G>T (p.Cys830Phe)
|
|
|
NM_000138.5(FBN1):c.2489_2492del (p.Cys830fs)
|
rs2141304207
|
|
NM_000138.5(FBN1):c.248C>T (p.Pro83Leu)
|
rs1206249804
|
|
NM_000138.5(FBN1):c.2493A>G (p.Glu831=)
|
rs756410019
|
|
NM_000138.5(FBN1):c.2494T>C (p.Cys832Arg)
|
|
|
NM_000138.5(FBN1):c.2495G>A (p.Cys832Tyr)
|
rs397515775
|
|
NM_000138.5(FBN1):c.2495G>C (p.Cys832Ser)
|
rs397515775
|
|
NM_000138.5(FBN1):c.2495G>T (p.Cys832Phe)
|
rs397515775
|
|
NM_000138.5(FBN1):c.2496T>G (p.Cys832Trp)
|
rs397515776
|
|
NM_000138.5(FBN1):c.2502_2513del (p.Glu835_Leu838del)
|
rs1555399195
|
|
NM_000138.5(FBN1):c.2506del (p.Ser836fs)
|
rs1566911709
|
|
NM_000138.5(FBN1):c.2508T>C (p.Ser836=)
|
rs193922190
|
|
NM_000138.5(FBN1):c.2513del (p.Leu838fs)
|
rs2141304158
|
|
NM_000138.5(FBN1):c.2515G>A (p.Asp839Asn)
|
|
|
NM_000138.5(FBN1):c.2519C>A (p.Pro840Gln)
|
|
|
NM_000138.5(FBN1):c.2521A>T (p.Thr841Ser)
|
rs1381506466
|
|
NM_000138.5(FBN1):c.2524A>T (p.Lys842Ter)
|
rs886038941
|
|
NM_000138.5(FBN1):c.2527del (p.Thr843fs)
|
rs2043598968
|
|
NM_000138.5(FBN1):c.2529C>T (p.Thr843=)
|
|
|
NM_000138.5(FBN1):c.2529del (p.Ile844fs)
|
rs1555399193
|
|
NM_000138.5(FBN1):c.2539+10T>A
|
rs878853679
|
|
NM_000138.5(FBN1):c.2539+10T>C
|
rs878853679
|
|
NM_000138.5(FBN1):c.2539+11T>C
|
|
|
NM_000138.5(FBN1):c.2539+13C>T
|
|
|
NM_000138.5(FBN1):c.2539+17G>A
|
|
|
NM_000138.5(FBN1):c.2539+19A>T
|
rs370949913
|
|
NM_000138.5(FBN1):c.2539+1G>A
|
rs794728192
|
|
NM_000138.5(FBN1):c.2539+1G>C
|
rs794728192
|
|
NM_000138.5(FBN1):c.2539+2T>G
|
rs1597569159
|
|
NM_000138.5(FBN1):c.2539+6T>G
|
rs2043598669
|
|
NM_000138.5(FBN1):c.2539+9C>T
|
rs765271763
|
|
NM_000138.5(FBN1):c.2540-10T>A
|
|
|
NM_000138.5(FBN1):c.2542A>C (p.Thr848Pro)
|
rs193922191
|
|
NM_000138.5(FBN1):c.2543C>A (p.Thr848Asn)
|
rs878853680
|
|
NM_000138.5(FBN1):c.2543C>T (p.Thr848Ile)
|
rs878853680
|
|
NM_000138.5(FBN1):c.2544C>T (p.Thr848=)
|
rs2043596539
|
|
NM_000138.5(FBN1):c.2545A>G (p.Ile849Val)
|
rs2043596507
|
|
NM_000138.5(FBN1):c.254G>A (p.Cys85Tyr)
|
|
|
NM_000138.5(FBN1):c.2551G>A (p.Gly851Ser)
|
rs2141303833
|
|
NM_000138.5(FBN1):c.2554A>G (p.Thr852Ala)
|
rs2141303822
|
|
NM_000138.5(FBN1):c.2557T>A (p.Cys853Ser)
|
rs1555399165
|
|
NM_000138.5(FBN1):c.2557T>C (p.Cys853Arg)
|
rs1555399165
|
|
NM_000138.5(FBN1):c.2558G>A (p.Cys853Tyr)
|
|
|
NM_000138.5(FBN1):c.2559C>A (p.Cys853Ter)
|
rs111981744
|
|
NM_000138.5(FBN1):c.2559C>G (p.Cys853Trp)
|
rs111981744
|
|
NM_000138.5(FBN1):c.255C>A (p.Cys85Ter)
|
rs1555405536
|
|
NM_000138.5(FBN1):c.2560T>C (p.Trp854Arg)
|
rs2043596204
|
|
NM_000138.5(FBN1):c.2561G>A (p.Trp854Ter)
|
rs1597568968
|
|
NM_000138.5(FBN1):c.2561G>C (p.Trp854Ser)
|
rs1597568968
|
|
NM_000138.5(FBN1):c.2562G>A (p.Trp854Ter)
|
rs1555399164
|
|
NM_000138.5(FBN1):c.2562G>T (p.Trp854Cys)
|
rs1555399164
|
|
NM_000138.5(FBN1):c.2563C>T (p.Gln855Ter)
|
rs1057519502
|
|
NM_000138.5(FBN1):c.2567C>T (p.Thr856Ile)
|
|
|
NM_000138.5(FBN1):c.2568T>C (p.Thr856=)
|
|
|
NM_000138.5(FBN1):c.256del (p.Arg86fs)
|
|
|
NM_000138.5(FBN1):c.257G>A (p.Arg86Gln)
|
rs2044650738
|
|
NM_000138.5(FBN1):c.2581C>T (p.Arg861Ter)
|
rs140583
|
|
NM_000138.5(FBN1):c.2584T>A (p.Cys862Ser)
|
rs2043595650
|
|
NM_000138.5(FBN1):c.2584T>C (p.Cys862Arg)
|
rs2043595650
|
|
NM_000138.5(FBN1):c.2585G>A (p.Cys862Tyr)
|
rs1555399162
|
|
NM_000138.5(FBN1):c.2586dup (p.Glu863Ter)
|
rs1555399160
|
|
NM_000138.5(FBN1):c.258G>T (p.Arg86=)
|
|
|
NM_000138.5(FBN1):c.2595C>A (p.Asn865Lys)
|
|
|
NM_000138.5(FBN1):c.2597T>A (p.Ile866Asn)
|
|
|
NM_000138.5(FBN1):c.2601T>C (p.Asn867=)
|
|
|
NM_000138.5(FBN1):c.260A>G (p.His87Arg)
|
rs1060501080
|
|
NM_000138.5(FBN1):c.2612T>C (p.Leu871Ser)
|
|
|
NM_000138.5(FBN1):c.2613A>G (p.Leu871=)
|
rs770290542
|
|
NM_000138.5(FBN1):c.2615del (p.Lys872fs)
|
|
|
NM_000138.5(FBN1):c.2618C>T (p.Ser873Phe)
|
rs2043595271
|
|
NM_000138.5(FBN1):c.2621A>G (p.Gln874Arg)
|
rs2043595247
|
|
NM_000138.5(FBN1):c.2623T>A (p.Cys875Ser)
|
rs1597568880
|
|
NM_000138.5(FBN1):c.2624G>A (p.Cys875Tyr)
|
rs886039038
|
|
NM_000138.5(FBN1):c.2626T>C (p.Cys876Arg)
|
rs1555399158
|
|
NM_000138.5(FBN1):c.2627G>A (p.Cys876Tyr)
|
rs794728193
|
|
NM_000138.5(FBN1):c.2627G>T (p.Cys876Phe)
|
rs794728193
|
|
NM_000138.5(FBN1):c.2627_2628insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGTCCCAGTGCTG (p.Cys876fs)
|
|
|
NM_000138.5(FBN1):c.2628C>G (p.Cys876Trp)
|
rs112085967
|
|
NM_000138.5(FBN1):c.2629_2645dup (p.Trp883fs)
|
|
|
NM_000138.5(FBN1):c.2630C>T (p.Ser877Phe)
|
rs1555399153
|
|
NM_000138.5(FBN1):c.2631del (p.Ser878fs)
|
rs2141303607
|
|
NM_000138.5(FBN1):c.2636T>C (p.Leu879Pro)
|
|
|
NM_000138.5(FBN1):c.2638G>A (p.Gly880Ser)
|
rs794728194
|
|
NM_000138.5(FBN1):c.2638G>C (p.Gly880Arg)
|
rs794728194
|
|
NM_000138.5(FBN1):c.2638G>T (p.Gly880Cys)
|
rs794728194
|
|
NM_000138.5(FBN1):c.2639G>C (p.Gly880Ala)
|
|
|
NM_000138.5(FBN1):c.2639G>T (p.Gly880Val)
|
rs886038953
|
|
NM_000138.5(FBN1):c.2641G>A (p.Ala881Thr)
|
rs781682561
|
|
NM_000138.5(FBN1):c.2644G>A (p.Ala882Thr)
|
rs2043594915
|
|
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val)
|
rs794728195
|
|
NM_000138.5(FBN1):c.2646G>A (p.Ala882=)
|
rs376040442
|
|
NM_000138.5(FBN1):c.2646G>C (p.Ala882=)
|
rs376040442
|
|
NM_000138.5(FBN1):c.2647T>C (p.Trp883Arg)
|
rs1555399150
|
|
NM_000138.5(FBN1):c.2648G>A (p.Trp883Ter)
|
rs2141303557
|
|
NM_000138.5(FBN1):c.2649G>A (p.Trp883Ter)
|
rs1597568822
|
|
NM_000138.5(FBN1):c.2651G>A (p.Gly884Glu)
|
rs1555399149
|
|
NM_000138.5(FBN1):c.2657C>T (p.Pro886Leu)
|
rs1060501083
|
|
NM_000138.5(FBN1):c.2657_2667del (p.Pro886fs)
|
rs1555399146
|
|
NM_000138.5(FBN1):c.2657_2671del (p.Pro886_Cys890del)
|
rs2141303486
|
|
NM_000138.5(FBN1):c.2659T>A (p.Cys887Ser)
|
rs2141303537
|
|
NM_000138.5(FBN1):c.2659T>C (p.Cys887Arg)
|
rs2141303537
|
|
NM_000138.5(FBN1):c.265T>C (p.Cys89Arg)
|
rs1555405533
|
|
NM_000138.5(FBN1):c.2660G>A (p.Cys887Tyr)
|
rs2043594601
|
|
NM_000138.5(FBN1):c.2660G>C (p.Cys887Ser)
|
|
|
NM_000138.5(FBN1):c.2662A>T (p.Thr888Ser)
|
|
|
NM_000138.5(FBN1):c.2664C>T (p.Thr888=)
|
rs1597568804
|
|
NM_000138.5(FBN1):c.2665C>G (p.Leu889Val)
|
|
|
NM_000138.5(FBN1):c.2666T>A (p.Leu889Gln)
|
|
|
NM_000138.5(FBN1):c.2666T>C (p.Leu889Pro)
|
rs1393818056
|
|
NM_000138.5(FBN1):c.2667A>G (p.Leu889=)
|
rs780192241
|
|
NM_000138.5(FBN1):c.2669G>A (p.Cys890Tyr)
|
rs1555399144
|
|
NM_000138.5(FBN1):c.266G>A (p.Cys89Tyr)
|
rs112660651
|
|
NM_000138.5(FBN1):c.266G>C (p.Cys89Ser)
|
rs112660651
|
|
NM_000138.5(FBN1):c.266G>T (p.Cys89Phe)
|
rs112660651
|
|
NM_000138.5(FBN1):c.2673A>G (p.Gln891=)
|
rs1555399143
|
|
NM_000138.5(FBN1):c.2674G>A (p.Val892Ile)
|
|
|
NM_000138.5(FBN1):c.2677+14A>G
|
|
|
NM_000138.5(FBN1):c.2677+15T>C
|
|
|
NM_000138.5(FBN1):c.2677+16G>A
|
|
|
NM_000138.5(FBN1):c.2677+18T>G
|
|
|
NM_000138.5(FBN1):c.2677+1G>A
|
|
|
NM_000138.5(FBN1):c.2677+1del
|
rs2141303466
|
|
NM_000138.5(FBN1):c.2677+3A>G
|
rs1060501071
|
|
NM_000138.5(FBN1):c.2677+5G>A
|
rs1085307946
|
|
NM_000138.5(FBN1):c.2677G>A (p.Asp893Asn)
|
rs193922193
|
|
NM_000138.5(FBN1):c.2677G>C (p.Asp893His)
|
rs193922193
|
|
NM_000138.5(FBN1):c.2677G>T (p.Asp893Tyr)
|
rs193922193
|
|
NM_000138.5(FBN1):c.2678-10T>C
|
rs1457653118
|
|
NM_000138.5(FBN1):c.2678-15C>A
|
rs181681840
|
|
NM_000138.5(FBN1):c.2678-16del
|
|
|
NM_000138.5(FBN1):c.2678-1G>T
|
|
|
NM_000138.5(FBN1):c.2678-2A>G
|
rs1555399101
|
|
NM_000138.5(FBN1):c.2678-6T>G
|
rs1555399102
|
|
NM_000138.5(FBN1):c.2678-8T>C
|
|
|
NM_000138.5(FBN1):c.2678-9T>A
|
rs2141302502
|
|
NM_000138.5(FBN1):c.2682_2685del (p.Ile895fs)
|
rs2141302451
|
|
NM_000138.5(FBN1):c.2682del (p.Ile895fs)
|
rs193922194
|
|
NM_000138.5(FBN1):c.2685dup (p.Cys896fs)
|
|
|
NM_000138.5(FBN1):c.2686T>C (p.Cys896Arg)
|
rs2043584517
|
|
NM_000138.5(FBN1):c.2687G>A (p.Cys896Tyr)
|
rs2141302442
|
|
NM_000138.5(FBN1):c.2687G>C (p.Cys896Ser)
|
|
|
NM_000138.5(FBN1):c.268_269delinsC (p.Gly90fs)
|
rs397515778
|
|
NM_000138.5(FBN1):c.2691T>C (p.Gly897=)
|
rs1555399096
|
|
NM_000138.5(FBN1):c.2691dup (p.Lys898Ter)
|
rs397515779
|
|
NM_000138.5(FBN1):c.2695G>A (p.Gly899Arg)
|
rs869025405
|
|
NM_000138.5(FBN1):c.2695G>C (p.Gly899Arg)
|
rs869025405
|
|
NM_000138.5(FBN1):c.2696G>A (p.Gly899Glu)
|
rs1555399094
|
|
NM_000138.5(FBN1):c.2696G>C (p.Gly899Ala)
|
rs1555399094
|
|
NM_000138.5(FBN1):c.2696_2697dup (p.Tyr900fs)
|
rs2141302411
|
|
NM_000138.5(FBN1):c.2698_2699insGG (p.Tyr900fs)
|
rs1555399093
|
|
NM_000138.5(FBN1):c.2702C>T (p.Ser901Leu)
|
|
|
NM_000138.5(FBN1):c.2714G>A (p.Gly905Glu)
|
rs1060501091
|
|
NM_000138.5(FBN1):c.2714del (p.Gly905fs)
|
rs1555399089
|
|
NM_000138.5(FBN1):c.2718A>G (p.Thr906=)
|
rs2141302366
|
|
NM_000138.5(FBN1):c.2719C>T (p.Gln907Ter)
|
rs1597568290
|
|
NM_000138.5(FBN1):c.2721A>G (p.Gln907=)
|
rs781062880
|
|
NM_000138.5(FBN1):c.2721A>T (p.Gln907His)
|
rs781062880
|
|
NM_000138.5(FBN1):c.2722T>C (p.Cys908Arg)
|
rs1060501021
|
|
NM_000138.5(FBN1):c.2723G>C (p.Cys908Ser)
|
rs1057523406
|
|
NM_000138.5(FBN1):c.2723G>T (p.Cys908Phe)
|
rs1057523406
|
|
NM_000138.5(FBN1):c.2727A>G (p.Glu909=)
|
|
|
NM_000138.5(FBN1):c.2728+13A>G
|
|
|
NM_000138.5(FBN1):c.2728+14C>G
|
|
|
NM_000138.5(FBN1):c.2728+16T>G
|
|
|
NM_000138.5(FBN1):c.2728+18T>A
|
|
|
NM_000138.5(FBN1):c.2728+18T>C
|
|
|
NM_000138.5(FBN1):c.2728+1G>C
|
rs794728322
|
|
NM_000138.5(FBN1):c.2728_2728+1delinsAA
|
rs1566911331
|
|
NM_000138.5(FBN1):c.2729-11T>C
|
|
|
NM_000138.5(FBN1):c.2729-13T>G
|
|
|
NM_000138.5(FBN1):c.2729-14T>G
|
|
|
NM_000138.5(FBN1):c.2729-16T>C
|
|
|
NM_000138.5(FBN1):c.2729-17T>C
|
|
|
NM_000138.5(FBN1):c.2729-17dup
|
rs35314876
|
|
NM_000138.5(FBN1):c.2729-19A>T
|
|
|
NM_000138.5(FBN1):c.2729-1G>A
|
rs1487002781
|
|
NM_000138.5(FBN1):c.2729-2A>G
|
rs113813525
|
|
NM_000138.5(FBN1):c.2729-3del
|
rs756503206
|
|
NM_000138.5(FBN1):c.2729-7T>C
|
rs1269178652
|
|
NM_000138.5(FBN1):c.2729-8C>A
|
rs775257418
|
|
NM_000138.5(FBN1):c.2729-8C>T
|
rs775257418
|
|
NM_000138.5(FBN1):c.2729-9del
|
rs35314876
|
|
NM_000138.5(FBN1):c.2729A>T (p.Asp910Val)
|
rs1284769637
|
|
NM_000138.5(FBN1):c.2736T>C (p.Asp912=)
|
|
|
NM_000138.5(FBN1):c.2736_2738del (p.Asp912del)
|
rs1566910954
|
|
NM_000138.5(FBN1):c.2737G>A (p.Glu913Lys)
|
rs1555398996
|
|
NM_000138.5(FBN1):c.2737G>T (p.Glu913Ter)
|
rs1555398996
|
|
NM_000138.5(FBN1):c.2738A>C (p.Glu913Ala)
|
rs1555398995
|
|
NM_000138.5(FBN1):c.2738A>G (p.Glu913Gly)
|
rs1555398995
|
|
NM_000138.5(FBN1):c.2740T>A (p.Cys914Ser)
|
rs1555398994
|
|
NM_000138.5(FBN1):c.2740T>C (p.Cys914Arg)
|
rs1555398994
|
|
NM_000138.5(FBN1):c.2741G>A (p.Cys914Tyr)
|
rs2141300503
|
|
NM_000138.5(FBN1):c.2743G>A (p.Glu915Lys)
|
rs746834413
|
|
NM_000138.5(FBN1):c.2745del (p.Val916fs)
|
rs2043569925
|
|
NM_000138.5(FBN1):c.2746G>C (p.Val916Leu)
|
rs373644734
|
|
NM_000138.5(FBN1):c.274G>A (p.Gly92Arg)
|
rs2140734026
|
|
NM_000138.5(FBN1):c.2752C>T (p.Pro918Ser)
|
rs1555398992
|
|
NM_000138.5(FBN1):c.2753del (p.Pro918fs)
|
|
|
NM_000138.5(FBN1):c.2758G>A (p.Val920Met)
|
|
|
NM_000138.5(FBN1):c.2761T>C (p.Cys921Arg)
|
rs1597567249
|
|
NM_000138.5(FBN1):c.2762G>A (p.Cys921Tyr)
|
rs2141300460
|
|
NM_000138.5(FBN1):c.2764A>T (p.Lys922Ter)
|
rs2141300454
|
|
NM_000138.5(FBN1):c.2764_2780del (p.Cys921_Lys922insTer)
|
rs1555398988
|
|
NM_000138.5(FBN1):c.2768del (p.Asn923fs)
|
rs1597567246
|
|
NM_000138.5(FBN1):c.2776T>C (p.Cys926Arg)
|
rs2141300401
|
|
NM_000138.5(FBN1):c.2777G>A (p.Cys926Tyr)
|
rs1555398989
|
|
NM_000138.5(FBN1):c.2777G>C (p.Cys926Ser)
|
rs1555398989
|
|
NM_000138.5(FBN1):c.2784C>T (p.Asn928=)
|
|
|
NM_000138.5(FBN1):c.2786C>T (p.Thr929Ile)
|
|
|
NM_000138.5(FBN1):c.2790G>A (p.Arg930=)
|
|
|
NM_000138.5(FBN1):c.2792G>T (p.Gly931Val)
|
rs200078617
|
|
NM_000138.5(FBN1):c.2793del (p.Ser932fs)
|
rs778900586
|
|
NM_000138.5(FBN1):c.2795C>G (p.Ser932Ter)
|
|
|
NM_000138.5(FBN1):c.2796A>G (p.Ser932=)
|
rs1261762653
|
|
NM_000138.5(FBN1):c.2799C>T (p.Phe933=)
|
rs2141300339
|
|
NM_000138.5(FBN1):c.27C>T (p.Ile9=)
|
rs1057522209
|
|
NM_000138.5(FBN1):c.2801A>C (p.Lys934Thr)
|
rs1489199503
|
|
NM_000138.5(FBN1):c.2801A>G (p.Lys934Arg)
|
|
|
NM_000138.5(FBN1):c.2803T>G (p.Cys935Gly)
|
|
|
NM_000138.5(FBN1):c.2806C>T (p.Gln936Ter)
|
rs794728197
|
|
NM_000138.5(FBN1):c.2808G>A (p.Gln936=)
|
|
|
NM_000138.5(FBN1):c.2808_2810del (p.Gln936_Cys937delinsHis)
|
rs1555398981
|
|
NM_000138.5(FBN1):c.2813C>T (p.Pro938Leu)
|
rs758257941
|
|
NM_000138.5(FBN1):c.2817T>C (p.Ser939=)
|
rs1254659886
|
|
NM_000138.5(FBN1):c.281G>A (p.Cys94Tyr)
|
|
|
NM_000138.5(FBN1):c.281G>T (p.Cys94Phe)
|
rs730880098
|
|
NM_000138.5(FBN1):c.2830del (p.Asp944fs)
|
|
|
NM_000138.5(FBN1):c.2833G>C (p.Ala945Pro)
|
|
|
NM_000138.5(FBN1):c.2833del (p.Ala945fs)
|
rs397515781
|
|
NM_000138.5(FBN1):c.2848T>C (p.Cys950Arg)
|
rs2141300266
|
|
NM_000138.5(FBN1):c.2849G>A (p.Cys950Tyr)
|
rs1555398974
|
|
NM_000138.5(FBN1):c.2849G>C (p.Cys950Ser)
|
rs1555398974
|
|
NM_000138.5(FBN1):c.2849G>T (p.Cys950Phe)
|
rs1555398974
|
|
NM_000138.5(FBN1):c.284C>A (p.Ser95Ter)
|
rs922684362
|
|
NM_000138.5(FBN1):c.2850T>A (p.Cys950Ter)
|
|
|
NM_000138.5(FBN1):c.2854+10G>A
|
rs768540741
|
|
NM_000138.5(FBN1):c.2854+11A>G
|
|
|
NM_000138.5(FBN1):c.2854+15C>T
|
|
|
NM_000138.5(FBN1):c.2854+1G>A
|
|
|
NM_000138.5(FBN1):c.2854+1G>T
|
rs112809590
|
|
NM_000138.5(FBN1):c.2854+20T>C
|
|
|
NM_000138.5(FBN1):c.2854+2T>C
|
rs2043568077
|
|
NM_000138.5(FBN1):c.2854+4A>G
|
|
|
NM_000138.5(FBN1):c.2854+7A>G
|
|
|
NM_000138.5(FBN1):c.2854+9T>G
|
|
|
NM_000138.5(FBN1):c.2854G>A (p.Asp952Asn)
|
rs2141300251
|
|
NM_000138.5(FBN1):c.2854G>C (p.Asp952His)
|
rs2141300251
|
|
NM_000138.5(FBN1):c.2855-11C>T
|
|
|
NM_000138.5(FBN1):c.2855-16T>C
|
rs2141297617
|
|
NM_000138.5(FBN1):c.2855-18C>G
|
|
|
NM_000138.5(FBN1):c.2855-19C>T
|
|
|
NM_000138.5(FBN1):c.2855-1G>A
|
rs112202622
|
|
NM_000138.5(FBN1):c.2855-1G>C
|
rs112202622
|
|
NM_000138.5(FBN1):c.2855-2A>G
|
rs2141297577
|
|
NM_000138.5(FBN1):c.2855-8T>C
|
rs193922195
|
|
NM_000138.5(FBN1):c.2856T>C (p.Asp952=)
|
|
|
NM_000138.5(FBN1):c.2857dup (p.Ile953fs)
|
rs1555398837
|
|
NM_000138.5(FBN1):c.2858del (p.Ile953fs)
|
rs1555398836
|
|
NM_000138.5(FBN1):c.2860C>T (p.Arg954Cys)
|
rs1555398835
|
|
NM_000138.5(FBN1):c.2861G>A (p.Arg954His)
|
rs112911555
|
|
NM_000138.5(FBN1):c.2861G>C (p.Arg954Pro)
|
rs112911555
|
|
NM_000138.5(FBN1):c.2861G>T (p.Arg954Leu)
|
rs112911555
|
|
NM_000138.5(FBN1):c.2873G>C (p.Cys958Ser)
|
rs1555398834
|
|
NM_000138.5(FBN1):c.2875_2908dup (p.Pro970fs)
|
rs2141297440
|
|
NM_000138.5(FBN1):c.2876T>C (p.Phe959Ser)
|
|
|
NM_000138.5(FBN1):c.2876del (p.Phe959fs)
|
rs2043545549
|
|
NM_000138.5(FBN1):c.2882G>A (p.Arg961Lys)
|
rs886039100
|
|
NM_000138.5(FBN1):c.2884T>C (p.Tyr962His)
|
|
|
NM_000138.5(FBN1):c.2884_2890del (p.Tyr962fs)
|
rs1555398833
|
|
NM_000138.5(FBN1):c.2886C>A (p.Tyr962Ter)
|
rs772108557
|
|
NM_000138.5(FBN1):c.2886C>G (p.Tyr962Ter)
|
|
|
NM_000138.5(FBN1):c.2887G>A (p.Glu963Lys)
|
rs745709588
|
|
NM_000138.5(FBN1):c.2887_2893del (p.Glu963fs)
|
rs1555398832
|
|
NM_000138.5(FBN1):c.2893G>A (p.Glu965Lys)
|
rs748905831
|
|
NM_000138.5(FBN1):c.2896G>T (p.Glu966Ter)
|
rs1555398830
|
|
NM_000138.5(FBN1):c.2901del (p.Glu966_Cys967insTer)
|
|
|
NM_000138.5(FBN1):c.2903C>T (p.Thr968Ile)
|
rs781698952
|
|
NM_000138.5(FBN1):c.2903_2910dup (p.Ile971fs)
|
rs2141297429
|
|
NM_000138.5(FBN1):c.2905C>T (p.Leu969=)
|
rs376776832
|
|
NM_000138.5(FBN1):c.2909C>G (p.Pro970Arg)
|
|
|
NM_000138.5(FBN1):c.2913T>C (p.Ile971=)
|
rs2141297416
|
|
NM_000138.5(FBN1):c.2913del (p.Ile971fs)
|
rs1555398826
|
|
NM_000138.5(FBN1):c.2923C>T (p.His975Tyr)
|
rs1597565510
|
|
NM_000138.5(FBN1):c.2929A>G (p.Met977Val)
|
rs776833421
|
|
NM_000138.5(FBN1):c.2930T>C (p.Met977Thr)
|
|
|
NM_000138.5(FBN1):c.2933A>G (p.Asp978Gly)
|
|
|
NM_000138.5(FBN1):c.2934C>T (p.Asp978=)
|
rs138438849
|
|
NM_000138.5(FBN1):c.2934dup (p.Ala979fs)
|
rs1555398821
|
|
NM_000138.5(FBN1):c.2935G>T (p.Ala979Ser)
|
rs748915171
|
|
NM_000138.5(FBN1):c.293del (p.Asn98fs)
|
rs2044650356
|
|
NM_000138.5(FBN1):c.2942G>A (p.Cys981Tyr)
|
rs727505110
|
|
NM_000138.5(FBN1):c.2942G>C (p.Cys981Ser)
|
rs727505110
|
|
NM_000138.5(FBN1):c.2943C>G (p.Cys981Trp)
|
|
|
NM_000138.5(FBN1):c.2945G>C (p.Cys982Ser)
|
rs1057524458
|
|
NM_000138.5(FBN1):c.2948C>T (p.Ser983Phe)
|
rs2141297315
|
|
NM_000138.5(FBN1):c.2948_2970del (p.Cys982_Ser983insTer)
|
rs1555398811
|
|
NM_000138.5(FBN1):c.2949C>A (p.Ser983=)
|
rs769307676
|
|
NM_000138.5(FBN1):c.2949del (p.Val984fs)
|
|
|
NM_000138.5(FBN1):c.2952C>A (p.Val984=)
|
rs374670384
|
|
NM_000138.5(FBN1):c.2953G>A (p.Gly985Arg)
|
rs794728199
|
|
NM_000138.5(FBN1):c.2953G>T (p.Gly985Trp)
|
rs794728199
|
|
NM_000138.5(FBN1):c.2957C>T (p.Ala986Val)
|
|
|
NM_000138.5(FBN1):c.2959G>C (p.Ala987Pro)
|
rs2141297282
|
|
NM_000138.5(FBN1):c.2961C>G (p.Ala987=)
|
|
|
NM_000138.5(FBN1):c.2962dup (p.Trp988fs)
|
|
|
NM_000138.5(FBN1):c.2963G>A (p.Trp988Ter)
|
rs2043543553
|
|
NM_000138.5(FBN1):c.2964G>A (p.Trp988Ter)
|
|
|
NM_000138.5(FBN1):c.2964_2965delinsTT (p.Trp988_Gly989delinsCysCys)
|
rs2141297274
|
|
NM_000138.5(FBN1):c.2965G>A (p.Gly989Ser)
|
|
|
NM_000138.5(FBN1):c.2966dup (p.Thr990fs)
|
|
|
NM_000138.5(FBN1):c.2976A>C (p.Glu992Asp)
|
|
|
NM_000138.5(FBN1):c.2979C>A (p.Cys993Ter)
|
|
|
NM_000138.5(FBN1):c.2980G>T (p.Glu994Ter)
|
|
|
NM_000138.5(FBN1):c.2982G>A (p.Glu994=)
|
rs758745637
|
|
NM_000138.5(FBN1):c.2982_2999del (p.Glu994_Asn1000delinsAsp)
|
|
|
NM_000138.5(FBN1):c.2985G>A (p.Glu995=)
|
|
|
NM_000138.5(FBN1):c.2986T>A (p.Cys996Ser)
|
rs140592
|
|
NM_000138.5(FBN1):c.2986dup (p.Cys996fs)
|
rs2043543231
|
|
NM_000138.5(FBN1):c.2988T>A (p.Cys996Ter)
|
rs1555398803
|
|
NM_000138.5(FBN1):c.298T>C (p.Cys100Arg)
|
rs1597631662
|
|
NM_000138.5(FBN1):c.2992A>G (p.Met998Val)
|
rs750727783
|
|
NM_000138.5(FBN1):c.2999A>T (p.Asn1000Ile)
|
rs2043543012
|
|
NM_000138.5(FBN1):c.299G>A (p.Cys100Tyr)
|
rs397515782
|
|
NM_000138.5(FBN1):c.299G>T (p.Cys100Phe)
|
rs397515782
|
|
NM_000138.5(FBN1):c.2T>C (p.Met1Thr)
|
rs886041536
|
|
NM_000138.5(FBN1):c.2T>G (p.Met1Arg)
|
rs886041536
|
|
NM_000138.5(FBN1):c.3002C>A (p.Thr1001Asn)
|
|
|
NM_000138.5(FBN1):c.3006T>C (p.Pro1002=)
|
rs2141297191
|
|
NM_000138.5(FBN1):c.3007G>T (p.Glu1003Ter)
|
|
|
NM_000138.5(FBN1):c.300C>A (p.Cys100Ter)
|
rs397515783
|
|
NM_000138.5(FBN1):c.3012C>A (p.Tyr1004Ter)
|
rs397515784
|
|
NM_000138.5(FBN1):c.3012C>G (p.Tyr1004Ter)
|
rs397515784
|
|
NM_000138.5(FBN1):c.3012C>T (p.Tyr1004=)
|
rs397515784
|
|
NM_000138.5(FBN1):c.3013G>T (p.Glu1005Ter)
|
rs564713154
|
|
NM_000138.5(FBN1):c.3015G>A (p.Glu1005=)
|
rs1430562775
|
|
NM_000138.5(FBN1):c.3016G>A (p.Glu1006Lys)
|
rs754040534
|
|
NM_000138.5(FBN1):c.3022T>C (p.Cys1008Arg)
|
rs1555398793
|
|
NM_000138.5(FBN1):c.3023G>C (p.Cys1008Ser)
|
rs2141297152
|
|
NM_000138.5(FBN1):c.3026C>T (p.Pro1009Leu)
|
rs148076256
|
|
NM_000138.5(FBN1):c.3027G>A (p.Pro1009=)
|
rs774381427
|
|
NM_000138.5(FBN1):c.302C>T (p.Thr101Ile)
|
|
|
NM_000138.5(FBN1):c.3035C>A (p.Pro1012His)
|
rs113990281
|
|
NM_000138.5(FBN1):c.3035C>G (p.Pro1012Arg)
|
rs113990281
|
|
NM_000138.5(FBN1):c.3037G>A (p.Gly1013Arg)
|
rs140593
|
|
NM_000138.5(FBN1):c.3037G>C (p.Gly1013Arg)
|
rs140593
|
|
NM_000138.5(FBN1):c.3038del (p.Gly1013fs)
|
rs2141297097
|
|
NM_000138.5(FBN1):c.304T>C (p.Cys102Arg)
|
rs1566937712
|
|
NM_000138.5(FBN1):c.3051A>G (p.Lys1017=)
|
|
|
NM_000138.5(FBN1):c.3052G>T (p.Glu1018Ter)
|
rs1597565298
|
|
NM_000138.5(FBN1):c.3054A>G (p.Glu1018=)
|
rs1060504141
|
|
NM_000138.5(FBN1):c.3055del (p.Ile1019fs)
|
|
|
NM_000138.5(FBN1):c.3059C>A (p.Thr1020Lys)
|
|
|
NM_000138.5(FBN1):c.305G>A (p.Cys102Tyr)
|
rs794728292
|
|
NM_000138.5(FBN1):c.305G>C (p.Cys102Ser)
|
rs794728292
|
|
NM_000138.5(FBN1):c.3061_3082+172del
|
rs1555398753
|
|
NM_000138.5(FBN1):c.3064G>A (p.Gly1022Arg)
|
|
|
NM_000138.5(FBN1):c.3065G>A (p.Gly1022Glu)
|
rs1597565278
|
|
NM_000138.5(FBN1):c.306C>G (p.Cys102Trp)
|
|
|
NM_000138.5(FBN1):c.3073_3074insA (p.Phe1025fs)
|
rs1566910251
|
|
NM_000138.5(FBN1):c.3076T>C (p.Phe1026Leu)
|
|
|
NM_000138.5(FBN1):c.3078C>T (p.Phe1026=)
|
rs553411757
|
|
NM_000138.5(FBN1):c.3079A>G (p.Lys1027Glu)
|
rs2141297017
|
|
NM_000138.5(FBN1):c.3081A>T (p.Lys1027Asn)
|
rs1555398771
|
|
NM_000138.5(FBN1):c.3081del (p.Asp1028fs)
|
rs1555398774
|
|
NM_000138.5(FBN1):c.3082+11dup
|
|
|
NM_000138.5(FBN1):c.3082+12C>G
|
|
|
NM_000138.5(FBN1):c.3082+12C>T
|
|
|
NM_000138.5(FBN1):c.3082+1G>A
|
rs886038996
|
|
NM_000138.5(FBN1):c.3082+2T>C
|
|
|
NM_000138.5(FBN1):c.3082+8G>A
|
|
|
NM_000138.5(FBN1):c.3082+9T>C
|
rs746303949
|
|
NM_000138.5(FBN1):c.3082+9T>G
|
rs746303949
|
|
NM_000138.5(FBN1):c.3083-18A>G
|
|
|
NM_000138.5(FBN1):c.3083-1G>C
|
rs2141295345
|
|
NM_000138.5(FBN1):c.3083-1G>T
|
rs2141295345
|
|
NM_000138.5(FBN1):c.3083-2A>C
|
rs2043529474
|
|
NM_000138.5(FBN1):c.3083-9T>C
|
|
|
NM_000138.5(FBN1):c.3083A>C (p.Asp1028Ala)
|
|
|
NM_000138.5(FBN1):c.3083A>G (p.Asp1028Gly)
|
rs1131691317
|
|
NM_000138.5(FBN1):c.3083A>T (p.Asp1028Val)
|
rs1131691317
|
|
NM_000138.5(FBN1):c.3089_3092del (p.Asn1030fs)
|
|
|
NM_000138.5(FBN1):c.3089del (p.Asn1030fs)
|
|
|
NM_000138.5(FBN1):c.3091G>T (p.Glu1031Ter)
|
rs1555398685
|
|
NM_000138.5(FBN1):c.3095G>A (p.Cys1032Tyr)
|
rs137854481
|
|
NM_000138.5(FBN1):c.3096C>A (p.Cys1032Ter)
|
rs1597564359
|
|
NM_000138.5(FBN1):c.3098del (p.Lys1033fs)
|
rs1555398683
|
|
NM_000138.5(FBN1):c.309del (p.Ser104fs)
|
rs2140733940
|
|
NM_000138.5(FBN1):c.30C>A (p.Ala10=)
|
rs1373206190
|
|
NM_000138.5(FBN1):c.30C>T (p.Ala10=)
|
|
|
NM_000138.5(FBN1):c.3102G>A (p.Met1034Ile)
|
|
|
NM_000138.5(FBN1):c.3107C>T (p.Pro1036Leu)
|
|
|
NM_000138.5(FBN1):c.3109_3112dup (p.Leu1038fs)
|
rs2043529080
|
|
NM_000138.5(FBN1):c.3111C>T (p.Ser1037=)
|
rs2141295290
|
|
NM_000138.5(FBN1):c.3115T>C (p.Cys1039Arg)
|
|
|
NM_000138.5(FBN1):c.3116G>A (p.Cys1039Tyr)
|
rs2141295277
|
|
NM_000138.5(FBN1):c.3123C>A (p.His1041Gln)
|
|
|
NM_000138.5(FBN1):c.3123C>T (p.His1041=)
|
rs576395584
|
|
NM_000138.5(FBN1):c.3124G>A (p.Gly1042Ser)
|
rs1555398681
|
|
NM_000138.5(FBN1):c.3126C>T (p.Gly1042=)
|
rs1566909928
|
|
NM_000138.5(FBN1):c.3126del (p.Lys1043fs)
|
|
|
NM_000138.5(FBN1):c.3128_3148del (p.Lys1043_Gly1049del)
|
|
|
NM_000138.5(FBN1):c.3129G>T (p.Lys1043Asn)
|
rs749552425
|
|
NM_000138.5(FBN1):c.3130T>A (p.Cys1044Ser)
|
|
|
NM_000138.5(FBN1):c.3130T>G (p.Cys1044Gly)
|
rs2141295251
|
|
NM_000138.5(FBN1):c.3131G>A (p.Cys1044Tyr)
|
rs730880100
|
|
NM_000138.5(FBN1):c.3132C>A (p.Cys1044Ter)
|
rs1555398677
|
|
NM_000138.5(FBN1):c.3136A>C (p.Asn1046His)
|
rs2141295243
|
|
NM_000138.5(FBN1):c.3137A>G (p.Asn1046Ser)
|
rs2141295239
|
|
NM_000138.5(FBN1):c.3140_3141del (p.Thr1047fs)
|
rs193922197
|
|
NM_000138.5(FBN1):c.3143T>C (p.Ile1048Thr)
|
rs1555398673
|
|
NM_000138.5(FBN1):c.3144T>A (p.Ile1048=)
|
rs112384723
|
|
NM_000138.5(FBN1):c.3144del (p.Ile1048fs)
|
rs1555398672
|
|
NM_000138.5(FBN1):c.3146G>A (p.Gly1049Asp)
|
rs1555398670
|
|
NM_000138.5(FBN1):c.3149G>C (p.Ser1050Thr)
|
rs987202268
|
|
NM_000138.5(FBN1):c.3149G>T (p.Ser1050Ile)
|
rs987202268
|
|
NM_000138.5(FBN1):c.3149del (p.Ser1050fs)
|
rs2141295207
|
|
NM_000138.5(FBN1):c.3152T>C (p.Phe1051Ser)
|
rs1555398668
|
|
NM_000138.5(FBN1):c.3157T>A (p.Cys1053Ser)
|
rs1555398667
|
|
NM_000138.5(FBN1):c.3157T>G (p.Cys1053Gly)
|
rs1555398667
|
|
NM_000138.5(FBN1):c.3158G>A (p.Cys1053Tyr)
|
rs2043528397
|
|
NM_000138.5(FBN1):c.3159C>G (p.Cys1053Trp)
|
rs886039054
|
|
NM_000138.5(FBN1):c.315_318dup (p.Ile107fs)
|
rs1597631624
|
|
NM_000138.5(FBN1):c.3162G>C (p.Arg1054Ser)
|
rs746021219
|
|
NM_000138.5(FBN1):c.3164G>A (p.Cys1055Tyr)
|
rs397515786
|
|
NM_000138.5(FBN1):c.3165T>A (p.Cys1055Ter)
|
rs1060501040
|
|
NM_000138.5(FBN1):c.3165T>G (p.Cys1055Trp)
|
rs1060501040
|
|
NM_000138.5(FBN1):c.3166del (p.Asp1056fs)
|
rs1060501013
|
|
NM_000138.5(FBN1):c.3172G>A (p.Gly1058Ser)
|
rs886039208
|
|
NM_000138.5(FBN1):c.3173G>A (p.Gly1058Asp)
|
rs794728202
|
|
NM_000138.5(FBN1):c.3173G>T (p.Gly1058Val)
|
rs794728202
|
|
NM_000138.5(FBN1):c.3181del (p.Asp1062fs)
|
|
|
NM_000138.5(FBN1):c.3192del (p.Glu1065fs)
|
rs1131692050
|
|
NM_000138.5(FBN1):c.3193del (p.Glu1065fs)
|
rs193922198
|
|
NM_000138.5(FBN1):c.319A>G (p.Ile107Val)
|
|
|
NM_000138.5(FBN1):c.319A>T (p.Ile107Leu)
|
rs2140733930
|
|
NM_000138.5(FBN1):c.31C>G (p.Leu11Val)
|
|
|
NM_000138.5(FBN1):c.3201C>T (p.Asn1067=)
|
|
|
NM_000138.5(FBN1):c.3202T>C (p.Cys1068Arg)
|
rs1293095681
|
|
NM_000138.5(FBN1):c.3203G>A (p.Cys1068Tyr)
|
rs1555398659
|
|
NM_000138.5(FBN1):c.3203G>C (p.Cys1068Ser)
|
rs1555398659
|
|
NM_000138.5(FBN1):c.3204C>A (p.Cys1068Ter)
|
rs886038248
|
|
NM_000138.5(FBN1):c.3205A>G (p.Thr1069Ala)
|
rs761632843
|
|
NM_000138.5(FBN1):c.3208+10T>C
|
rs1597564173
|
|
NM_000138.5(FBN1):c.3208+13G>A
|
rs2043527577
|
|
NM_000138.5(FBN1):c.3208+14C>G
|
|
|
NM_000138.5(FBN1):c.3208+5G>A
|
rs1555398657
|
|
NM_000138.5(FBN1):c.3208+5G>C
|
rs1555398657
|
|
NM_000138.5(FBN1):c.3208+7T>A
|
|
|
NM_000138.5(FBN1):c.3209-11T>G
|
|
|
NM_000138.5(FBN1):c.3209-13T>C
|
|
|
NM_000138.5(FBN1):c.3209-19A>G
|
|
|
NM_000138.5(FBN1):c.3209-1G>C
|
rs886038956
|
|
NM_000138.5(FBN1):c.3209-2A>C
|
rs2043526284
|
|
NM_000138.5(FBN1):c.3209-3del
|
rs2141294880
|
|
NM_000138.5(FBN1):c.3209-6G>C
|
rs942309418
|
|
NM_000138.5(FBN1):c.3209-7T>A
|
rs1459153455
|
|
NM_000138.5(FBN1):c.3209-7del
|
rs2043526375
|
|
NM_000138.5(FBN1):c.3209A>G (p.Asp1070Gly)
|
rs1555398648
|
|
NM_000138.5(FBN1):c.320_321del (p.Ile107fs)
|
rs730880108
|
|
NM_000138.5(FBN1):c.3210C>T (p.Asp1070=)
|
rs754970748
|
|
NM_000138.5(FBN1):c.3211del (p.Ile1071fs)
|
rs1597564038
|
|
NM_000138.5(FBN1):c.3212T>G (p.Ile1071Ser)
|
rs1555398647
|
|
NM_000138.5(FBN1):c.3213T>A (p.Ile1071=)
|
|
|
NM_000138.5(FBN1):c.3214G>C (p.Asp1072His)
|
rs778867355
|
|
NM_000138.5(FBN1):c.3217G>A (p.Glu1073Lys)
|
rs137854478
|
|
NM_000138.5(FBN1):c.3217G>T (p.Glu1073Ter)
|
rs137854478
|
|
NM_000138.5(FBN1):c.3218A>G (p.Glu1073Gly)
|
|
|
NM_000138.5(FBN1):c.3220T>C (p.Cys1074Arg)
|
rs137854465
|
|
NM_000138.5(FBN1):c.3224G>A (p.Arg1075His)
|
rs369745372
|
|
NM_000138.5(FBN1):c.3224G>C (p.Arg1075Pro)
|
rs369745372
|
|
NM_000138.5(FBN1):c.3225_3228dup (p.Ser1077fs)
|
rs2141294801
|
|
NM_000138.5(FBN1):c.3227T>C (p.Ile1076Thr)
|
|
|
NM_000138.5(FBN1):c.3227dup (p.Ser1077fs)
|
rs2141294808
|
|
NM_000138.5(FBN1):c.3228_3232dup (p.Pro1078fs)
|
rs2141294789
|
|
NM_000138.5(FBN1):c.3235_3239del (p.Asp1079fs)
|
rs1555398642
|
|
NM_000138.5(FBN1):c.3238C>T (p.Leu1080Phe)
|
|
|
NM_000138.5(FBN1):c.3239T>C (p.Leu1080Pro)
|
rs2043525655
|
|
NM_000138.5(FBN1):c.3239T>G (p.Leu1080Arg)
|
rs2043525655
|
|
NM_000138.5(FBN1):c.3250G>C (p.Gly1084Arg)
|
rs112553035
|
|
NM_000138.5(FBN1):c.3253C>T (p.Gln1085Ter)
|
rs1555398640
|
|
NM_000138.5(FBN1):c.3254A>G (p.Gln1085Arg)
|
rs1031572615
|
|
NM_000138.5(FBN1):c.3256T>C (p.Cys1086Arg)
|
rs1555398637
|
|
NM_000138.5(FBN1):c.3256T>G (p.Cys1086Gly)
|
rs1555398637
|
|
NM_000138.5(FBN1):c.3257G>A (p.Cys1086Tyr)
|
rs137854484
|
|
NM_000138.5(FBN1):c.3259G>A (p.Val1087Met)
|
|
|
NM_000138.5(FBN1):c.3263A>G (p.Asn1088Ser)
|
rs1555398635
|
|
NM_000138.5(FBN1):c.3264C>A (p.Asn1088Lys)
|
rs2043525387
|
|
NM_000138.5(FBN1):c.3265A>G (p.Thr1089Ala)
|
|
|
NM_000138.5(FBN1):c.3268C>T (p.Pro1090Ser)
|
rs1555398633
|
|
NM_000138.5(FBN1):c.3269del (p.Pro1090fs)
|
rs35656954
|
|
NM_000138.5(FBN1):c.3271G>T (p.Gly1091Trp)
|
rs2141294717
|
|
NM_000138.5(FBN1):c.3272G>A (p.Gly1091Glu)
|
rs1566909798
|
|
NM_000138.5(FBN1):c.3274del (p.Asp1092fs)
|
rs397515788
|
|
NM_000138.5(FBN1):c.3284G>A (p.Cys1095Tyr)
|
rs1597563934
|
|
NM_000138.5(FBN1):c.3284G>C (p.Cys1095Ser)
|
rs1597563934
|
|
NM_000138.5(FBN1):c.3287A>G (p.Lys1096Arg)
|
|
|
NM_000138.5(FBN1):c.3290G>A (p.Cys1097Tyr)
|
rs1555398627
|
|
NM_000138.5(FBN1):c.3297A>G (p.Glu1099=)
|
rs1555398626
|
|
NM_000138.5(FBN1):c.3297A>T (p.Glu1099Asp)
|
rs1555398626
|
|
NM_000138.5(FBN1):c.3299G>A (p.Gly1100Asp)
|
|
|
NM_000138.5(FBN1):c.3299G>C (p.Gly1100Ala)
|
rs112547596
|
|
NM_000138.5(FBN1):c.3299G>T (p.Gly1100Val)
|
rs112547596
|
|
NM_000138.5(FBN1):c.32T>A (p.Leu11Gln)
|
rs1555407429
|
|
NM_000138.5(FBN1):c.32T>G (p.Leu11Arg)
|
rs1555407429
|
|
NM_000138.5(FBN1):c.3302A>G (p.Tyr1101Cys)
|
rs1555398625
|
|
NM_000138.5(FBN1):c.3303T>A (p.Tyr1101Ter)
|
rs1555398624
|
|
NM_000138.5(FBN1):c.3303T>C (p.Tyr1101=)
|
rs1555398624
|
|
NM_000138.5(FBN1):c.3315C>G (p.Phe1105Leu)
|
|
|
NM_000138.5(FBN1):c.3318del (p.Met1106fs)
|
rs2141294624
|
|
NM_000138.5(FBN1):c.3319A>G (p.Met1107Val)
|
|
|
NM_000138.5(FBN1):c.331T>C (p.Cys111Arg)
|
|
|
NM_000138.5(FBN1):c.3320_3321del (p.Met1107fs)
|
rs2141294618
|
|
NM_000138.5(FBN1):c.3320_3323dup (p.Met1108fs)
|
rs1555398622
|
|
NM_000138.5(FBN1):c.3321G>A (p.Met1107Ile)
|
|
|
NM_000138.5(FBN1):c.3331T>G (p.Cys1111Gly)
|
rs2141294587
|
|
NM_000138.5(FBN1):c.3332G>A (p.Cys1111Tyr)
|
rs1566909766
|
|
NM_000138.5(FBN1):c.3332G>C (p.Cys1111Ser)
|
|
|
NM_000138.5(FBN1):c.3334A>T (p.Met1112Leu)
|
|
|
NM_000138.5(FBN1):c.3337+13del
|
rs563620440
|
|
NM_000138.5(FBN1):c.3337+15A>T
|
|
|
NM_000138.5(FBN1):c.3337+1G>A
|
rs397515789
|
|
NM_000138.5(FBN1):c.3337+1G>T
|
rs397515789
|
|
NM_000138.5(FBN1):c.3337+1del
|
rs1566909762
|
|
NM_000138.5(FBN1):c.3337+1dup
|
rs1566909762
|
|
NM_000138.5(FBN1):c.3337+2T>C
|
rs2141294575
|
|
NM_000138.5(FBN1):c.3338-16C>T
|
|
|
NM_000138.5(FBN1):c.3338-18del
|
|
|
NM_000138.5(FBN1):c.3338-1G>C
|
rs2141293811
|
|
NM_000138.5(FBN1):c.3338-2A>G
|
rs2141293812
|
|
NM_000138.5(FBN1):c.3338A>G (p.Asp1113Gly)
|
rs140597
|
|
NM_000138.5(FBN1):c.3343G>T (p.Asp1115Tyr)
|
|
|
NM_000138.5(FBN1):c.3344A>G (p.Asp1115Gly)
|
rs794728203
|
|
NM_000138.5(FBN1):c.3346G>A (p.Glu1116Lys)
|
rs1555398582
|
|
NM_000138.5(FBN1):c.3347A>G (p.Glu1116Gly)
|
rs1566909547
|
|
NM_000138.5(FBN1):c.3347_3348del (p.Glu1116fs)
|
rs1555398580
|
|
NM_000138.5(FBN1):c.3349T>C (p.Cys1117Arg)
|
rs2141293770
|
|
NM_000138.5(FBN1):c.3349del (p.Cys1117fs)
|
rs1597563316
|
|
NM_000138.5(FBN1):c.3350G>A (p.Cys1117Tyr)
|
rs137854470
|
|
NM_000138.5(FBN1):c.3362del (p.Pro1121fs)
|
|
|
NM_000138.5(FBN1):c.3366C>T (p.Leu1122=)
|
rs2141293747
|
|
NM_000138.5(FBN1):c.336C>T (p.Gly112=)
|
rs1555405526
|
|
NM_000138.5(FBN1):c.336dup (p.Ser113fs)
|
rs1555405528
|
|
NM_000138.5(FBN1):c.3370T>C (p.Cys1124Arg)
|
rs2141293730
|
|
NM_000138.5(FBN1):c.3370T>G (p.Cys1124Gly)
|
rs2141293730
|
|
NM_000138.5(FBN1):c.3371G>C (p.Cys1124Ser)
|
rs2141293726
|
|
NM_000138.5(FBN1):c.3372_3376del (p.Cys1124fs)
|
rs1597563280
|
|
NM_000138.5(FBN1):c.3373C>T (p.Arg1125Ter)
|
rs727505006
|
|
NM_000138.5(FBN1):c.3374_3379delinsAAAGT (p.Arg1125fs)
|
rs1597563274
|
|
NM_000138.5(FBN1):c.3375dup (p.Gly1126fs)
|
rs1597563287
|
|
NM_000138.5(FBN1):c.3379G>A (p.Gly1127Ser)
|
rs137854468
|
|
NM_000138.5(FBN1):c.3380G>A (p.Gly1127Asp)
|
rs1064794882
|
|
NM_000138.5(FBN1):c.3382G>C (p.Val1128Leu)
|
rs1555398573
|
|
NM_000138.5(FBN1):c.3383_3386dup (p.His1130fs)
|
rs2141293686
|
|
NM_000138.5(FBN1):c.3385T>C (p.Cys1129Arg)
|
rs2043517941
|
|
NM_000138.5(FBN1):c.3386G>A (p.Cys1129Tyr)
|
rs137854482
|
|
NM_000138.5(FBN1):c.3388del (p.His1130fs)
|
rs1555398572
|
|
NM_000138.5(FBN1):c.338C>G (p.Ser113Cys)
|
rs869025403
|
|
NM_000138.5(FBN1):c.3390T>C (p.His1130=)
|
|
|
NM_000138.5(FBN1):c.3391A>T (p.Asn1131Tyr)
|
rs137854473
|
|
NM_000138.5(FBN1):c.3392A>G (p.Asn1131Ser)
|
rs397515790
|
|
NM_000138.5(FBN1):c.3393C>A (p.Asn1131Lys)
|
rs775565475
|
|
NM_000138.5(FBN1):c.3394A>G (p.Thr1132Ala)
|
|
|
NM_000138.5(FBN1):c.3395_3396del (p.Thr1132fs)
|
rs2141293662
|
|
NM_000138.5(FBN1):c.3398_3399del (p.Glu1133fs)
|
rs1597563234
|
|
NM_000138.5(FBN1):c.3398_3408del (p.Glu1133fs)
|
rs1555398566
|
|
NM_000138.5(FBN1):c.339C>T (p.Ser113=)
|
|
|
NM_000138.5(FBN1):c.33G>C (p.Leu11=)
|
|
|
NM_000138.5(FBN1):c.3402A>G (p.Gly1134=)
|
|
|
NM_000138.5(FBN1):c.3407_3431dup (p.His1144delinsGlnProLeuTer)
|
|
|
NM_000138.5(FBN1):c.3407dup (p.Tyr1136Ter)
|
rs2141293639
|
|
NM_000138.5(FBN1):c.3408C>A (p.Tyr1136Ter)
|
rs1555398564
|
|
NM_000138.5(FBN1):c.3411C>T (p.Arg1137=)
|
rs878853681
|
|
NM_000138.5(FBN1):c.3412T>C (p.Cys1138Arg)
|
rs1131691806
|
|
NM_000138.5(FBN1):c.3413G>A (p.Cys1138Tyr)
|
rs397515791
|
|
NM_000138.5(FBN1):c.3413G>C (p.Cys1138Ser)
|
rs397515791
|
|
NM_000138.5(FBN1):c.3413G>T (p.Cys1138Phe)
|
rs397515791
|
|
NM_000138.5(FBN1):c.3419G>A (p.Cys1140Tyr)
|
rs1060501075
|
|
NM_000138.5(FBN1):c.3419G>T (p.Cys1140Phe)
|
rs1060501075
|
|
NM_000138.5(FBN1):c.3425C>G (p.Pro1142Arg)
|
rs2043517357
|
|
NM_000138.5(FBN1):c.3428G>A (p.Gly1143Asp)
|
rs1163486953
|
|
NM_000138.5(FBN1):c.3431A>G (p.His1144Arg)
|
|
|
NM_000138.5(FBN1):c.3432dup (p.Gln1145fs)
|
rs1566909483
|
|
NM_000138.5(FBN1):c.3444del (p.Asn1149fs)
|
rs1555398551
|
|
NM_000138.5(FBN1):c.3447C>T (p.Asn1149=)
|
|
|
NM_000138.5(FBN1):c.3457T>C (p.Cys1153Arg)
|
rs886038877
|
|
NM_000138.5(FBN1):c.3458G>A (p.Cys1153Tyr)
|
rs140599
|
|
NM_000138.5(FBN1):c.3458G>T (p.Cys1153Phe)
|
|
|
NM_000138.5(FBN1):c.345del (p.Ile116fs)
|
|
|
NM_000138.5(FBN1):c.3460A>T (p.Ile1154Phe)
|
rs1043235195
|
|
NM_000138.5(FBN1):c.3462C>A (p.Ile1154=)
|
|
|
NM_000138.5(FBN1):c.3463+15T>A
|
rs1597563076
|
|
NM_000138.5(FBN1):c.3463+1G>A
|
rs397515792
|
|
NM_000138.5(FBN1):c.3463+1G>T
|
rs397515792
|
|
NM_000138.5(FBN1):c.3464-16_3464-14del
|
rs775944757
|
|
NM_000138.5(FBN1):c.3464-1G>A
|
rs2141293336
|
|
NM_000138.5(FBN1):c.3464-1del
|
rs2141293337
|
|
NM_000138.5(FBN1):c.3464-6C>A
|
|
|
NM_000138.5(FBN1):c.3464A>G (p.Asp1155Gly)
|
rs2141293332
|
|
NM_000138.5(FBN1):c.3464A>T (p.Asp1155Val)
|
|
|
NM_000138.5(FBN1):c.3466_3467del (p.Ile1156fs)
|
|
|
NM_000138.5(FBN1):c.347-19CTT[2]
|
rs756583965
|
|
NM_000138.5(FBN1):c.347-5del
|
rs561135562
|
|
NM_000138.5(FBN1):c.3471T>C (p.Asn1157=)
|
|
|
NM_000138.5(FBN1):c.3473A>G (p.Glu1158Gly)
|
rs1597562926
|
|
NM_000138.5(FBN1):c.3475T>C (p.Cys1159Arg)
|
rs794728205
|
|
NM_000138.5(FBN1):c.3476G>A (p.Cys1159Tyr)
|
rs1555398524
|
|
NM_000138.5(FBN1):c.3478G>T (p.Glu1160Ter)
|
rs193922199
|
|
NM_000138.5(FBN1):c.3487G>A (p.Ala1163Thr)
|
|
|
NM_000138.5(FBN1):c.3487_3488dup (p.Leu1165fs)
|
rs2043515102
|
|
NM_000138.5(FBN1):c.3497G>A (p.Cys1166Tyr)
|
rs2043515038
|
|
NM_000138.5(FBN1):c.3498C>A (p.Cys1166Ter)
|
|
|
NM_000138.5(FBN1):c.34G>T (p.Gly12Ter)
|
|
|
NM_000138.5(FBN1):c.3503A>T (p.Asn1168Ile)
|
|
|
NM_000138.5(FBN1):c.3505G>C (p.Gly1169Arg)
|
|
|
NM_000138.5(FBN1):c.3506G>A (p.Gly1169Asp)
|
rs794728330
|
|
NM_000138.5(FBN1):c.3508C>T (p.Arg1170Cys)
|
rs1366894709
|
|
NM_000138.5(FBN1):c.3508del (p.Arg1170fs)
|
rs2141293265
|
|
NM_000138.5(FBN1):c.3511T>C (p.Cys1171Arg)
|
rs2141293252
|
|
NM_000138.5(FBN1):c.3512G>A (p.Cys1171Tyr)
|
rs1555398521
|
|
NM_000138.5(FBN1):c.3513C>G (p.Cys1171Trp)
|
rs775417975
|
|
NM_000138.5(FBN1):c.3516G>C (p.Val1172=)
|
rs2141293239
|
|
NM_000138.5(FBN1):c.3518A>C (p.Asn1173Thr)
|
rs1555398520
|
|
NM_000138.5(FBN1):c.3518A>T (p.Asn1173Ile)
|
rs1555398520
|
|
NM_000138.5(FBN1):c.3518_3538del (p.Asn1173_Cys1180delinsSer)
|
rs1555398514
|
|
NM_000138.5(FBN1):c.3521T>C (p.Leu1174Pro)
|
rs1555398517
|
|
NM_000138.5(FBN1):c.3528G>A (p.Gly1176=)
|
rs902201289
|
|
NM_000138.5(FBN1):c.3529A>T (p.Lys1177Ter)
|
|
|
NM_000138.5(FBN1):c.3533A>G (p.Tyr1178Cys)
|
rs1555398515
|
|
NM_000138.5(FBN1):c.3534dup (p.Gln1179fs)
|
rs2141293209
|
|
NM_000138.5(FBN1):c.3535C>T (p.Gln1179Ter)
|
rs1364210063
|
|
NM_000138.5(FBN1):c.3537G>A (p.Gln1179=)
|
|
|
NM_000138.5(FBN1):c.3538T>C (p.Cys1180Arg)
|
rs2141293199
|
|
NM_000138.5(FBN1):c.3539G>A (p.Cys1180Tyr)
|
rs1555398513
|
|
NM_000138.5(FBN1):c.3545G>A (p.Cys1182Tyr)
|
rs1597562812
|
|
NM_000138.5(FBN1):c.3545_3548dup (p.Asn1183fs)
|
rs2141293186
|
|
NM_000138.5(FBN1):c.3546C>A (p.Cys1182Ter)
|
rs727504411
|
|
NM_000138.5(FBN1):c.3554G>A (p.Gly1185Asp)
|
rs1555398512
|
|
NM_000138.5(FBN1):c.3557A>G (p.Tyr1186Cys)
|
rs1555398511
|
|
NM_000138.5(FBN1):c.3557del (p.Tyr1186fs)
|
rs2043514354
|
|
NM_000138.5(FBN1):c.3558C>G (p.Tyr1186Ter)
|
rs1555398510
|
|
NM_000138.5(FBN1):c.3559dup (p.His1187fs)
|
rs1555398508
|
|
NM_000138.5(FBN1):c.355T>C (p.Cys119Arg)
|
rs2044551443
|
|
NM_000138.5(FBN1):c.3568C>A (p.Pro1190Thr)
|
|
|
NM_000138.5(FBN1):c.3569_3570delinsAA (p.Pro1190Gln)
|
rs2043514115
|
|
NM_000138.5(FBN1):c.356G>A (p.Cys119Tyr)
|
|
|
NM_000138.5(FBN1):c.3572A>G (p.Asp1191Gly)
|
|
|
NM_000138.5(FBN1):c.3574A>G (p.Arg1192Gly)
|
rs2043513994
|
|
NM_000138.5(FBN1):c.3578T>C (p.Leu1193Pro)
|
rs2141293110
|
|
NM_000138.5(FBN1):c.3579A>G (p.Leu1193=)
|
|
|
NM_000138.5(FBN1):c.3582T>C (p.Phe1194=)
|
rs2141293096
|
|
NM_000138.5(FBN1):c.3583T>G (p.Cys1195Gly)
|
rs2141293091
|
|
NM_000138.5(FBN1):c.3583del (p.Cys1195fs)
|
rs2141293095
|
|
NM_000138.5(FBN1):c.3586G>A (p.Val1196Ile)
|
rs1352765609
|
|
NM_000138.5(FBN1):c.3589+11TTTTA[7]
|
rs72158035
|
|
NM_000138.5(FBN1):c.3589+11TTTTA[8]
|
rs72158035
|
|
NM_000138.5(FBN1):c.3589+1G>T
|
rs1555398501
|
|
NM_000138.5(FBN1):c.3589+1del
|
|
|
NM_000138.5(FBN1):c.3589+3A>G
|
rs2043513649
|
|
NM_000138.5(FBN1):c.3589G>A (p.Asp1197Asn)
|
rs397515793
|
|
NM_000138.5(FBN1):c.3589G>C (p.Asp1197His)
|
rs397515793
|
|
NM_000138.5(FBN1):c.3590-10T>C
|
rs1384307516
|
|
NM_000138.5(FBN1):c.3590-11A>G
|
rs777262423
|
|
NM_000138.5(FBN1):c.3590-17_3590-15del
|
|
|
NM_000138.5(FBN1):c.3590-19T>C
|
|
|
NM_000138.5(FBN1):c.3590-2A>G
|
rs2043498977
|
|
NM_000138.5(FBN1):c.3590-9T>A
|
|
|
NM_000138.5(FBN1):c.3590A>G (p.Asp1197Gly)
|
rs112025387
|
|
NM_000138.5(FBN1):c.3590A>T (p.Asp1197Val)
|
rs112025387
|
|
NM_000138.5(FBN1):c.3595_3608dup (p.Ile1203fs)
|
rs1566908947
|
|
NM_000138.5(FBN1):c.3596A>G (p.Asp1199Gly)
|
rs794728206
|
|
NM_000138.5(FBN1):c.3598G>A (p.Glu1200Lys)
|
|
|
NM_000138.5(FBN1):c.3599A>T (p.Glu1200Val)
|
rs1566908956
|
|
NM_000138.5(FBN1):c.359A>G (p.Asn120Ser)
|
rs753900024
|
|
NM_000138.5(FBN1):c.359A>T (p.Asn120Ile)
|
rs753900024
|
|
NM_000138.5(FBN1):c.3602G>A (p.Cys1201Tyr)
|
rs1555398413
|
|
NM_000138.5(FBN1):c.3603C>A (p.Cys1201Ter)
|
|
|
NM_000138.5(FBN1):c.3605G>A (p.Ser1202Asn)
|
rs758542279
|
|
NM_000138.5(FBN1):c.3605_3606delinsTT (p.Ser1202Ile)
|
rs2043498514
|
|
NM_000138.5(FBN1):c.3613_3616del (p.Asn1205fs)
|
rs2141291389
|
|
NM_000138.5(FBN1):c.3616G>A (p.Gly1206Ser)
|
|
|
NM_000138.5(FBN1):c.3616G>C (p.Gly1206Arg)
|
rs1555398411
|
|
NM_000138.5(FBN1):c.3616G>T (p.Gly1206Cys)
|
rs1555398411
|
|
NM_000138.5(FBN1):c.3617G>A (p.Gly1206Asp)
|
rs1555398409
|
|
NM_000138.5(FBN1):c.3617G>T (p.Gly1206Val)
|
|
|
NM_000138.5(FBN1):c.3623G>T (p.Cys1208Phe)
|
rs1555398406
|
|
NM_000138.5(FBN1):c.3623del (p.Cys1208fs)
|
rs1555398407
|
|
NM_000138.5(FBN1):c.3624T>A (p.Cys1208Ter)
|
rs765842423
|
|
NM_000138.5(FBN1):c.3624T>G (p.Cys1208Trp)
|
|
|
NM_000138.5(FBN1):c.3625_3627dup (p.Glu1209_Thr1210insGlu)
|
|
|
NM_000138.5(FBN1):c.3626A>T (p.Glu1209Val)
|
rs1597561500
|
|
NM_000138.5(FBN1):c.362_363dup (p.Arg122fs)
|
rs2044551389
|
|
NM_000138.5(FBN1):c.3632T>C (p.Phe1211Ser)
|
|
|
NM_000138.5(FBN1):c.3632_3634del (p.Phe1211del)
|
rs1555398404
|
|
NM_000138.5(FBN1):c.3634T>C (p.Cys1212Arg)
|
rs2043497933
|
|
NM_000138.5(FBN1):c.3635G>A (p.Cys1212Tyr)
|
rs1057522908
|
|
NM_000138.5(FBN1):c.3640_3641del (p.Asn1214fs)
|
rs2141291345
|
|
NM_000138.5(FBN1):c.3641A>G (p.Asn1214Ser)
|
rs1555398401
|
|
NM_000138.5(FBN1):c.3643T>C (p.Ser1215Pro)
|
|
|
NM_000138.5(FBN1):c.3644C>T (p.Ser1215Phe)
|
|
|
NM_000138.5(FBN1):c.3644_3645del (p.Asn1214_Ser1215insTer)
|
|
|
NM_000138.5(FBN1):c.364C>T (p.Arg122Cys)
|
rs137854467
|
|
NM_000138.5(FBN1):c.3650G>A (p.Gly1217Asp)
|
rs1555398397
|
|
NM_000138.5(FBN1):c.3656A>C (p.Tyr1219Ser)
|
|
|
NM_000138.5(FBN1):c.3656A>G (p.Tyr1219Cys)
|
rs1555398394
|
|
NM_000138.5(FBN1):c.3656dup (p.Tyr1219Ter)
|
rs1555398395
|
|
NM_000138.5(FBN1):c.3661T>A (p.Cys1221Ser)
|
rs2141291310
|
|
NM_000138.5(FBN1):c.3661T>C (p.Cys1221Arg)
|
rs2141291310
|
|
NM_000138.5(FBN1):c.3661dup (p.Cys1221fs)
|
|
|
NM_000138.5(FBN1):c.3662G>A (p.Cys1221Tyr)
|
rs137854483
|
|
NM_000138.5(FBN1):c.3668G>A (p.Cys1223Tyr)
|
rs137854469
|
|
NM_000138.5(FBN1):c.3671A>G (p.Gln1224Arg)
|
rs2141291295
|
|
NM_000138.5(FBN1):c.3677G>T (p.Gly1226Val)
|
rs1555398387
|
|
NM_000138.5(FBN1):c.367del (p.Cys123fs)
|
rs2140718246
|
|
NM_000138.5(FBN1):c.3681T>G (p.Phe1227Leu)
|
rs2043497341
|
|
NM_000138.5(FBN1):c.368G>A (p.Cys123Tyr)
|
rs397515794
|
|
NM_000138.5(FBN1):c.368G>C (p.Cys123Ser)
|
rs397515794
|
|
NM_000138.5(FBN1):c.3693_3697del (p.Asp1232fs)
|
|
|
NM_000138.5(FBN1):c.3694G>A (p.Asp1232Asn)
|
|
|
NM_000138.5(FBN1):c.3697C>T (p.Gln1233Ter)
|
|
|
NM_000138.5(FBN1):c.3702A>T (p.Arg1234Ser)
|
|
|
NM_000138.5(FBN1):c.3703T>C (p.Ser1235Pro)
|
rs1555398382
|
|
NM_000138.5(FBN1):c.3704C>G (p.Ser1235Ter)
|
rs2141291261
|
|
NM_000138.5(FBN1):c.3704del (p.Ser1235fs)
|
|
|
NM_000138.5(FBN1):c.3706T>C (p.Cys1236Arg)
|
rs1555398380
|
|
NM_000138.5(FBN1):c.3706T>G (p.Cys1236Gly)
|
rs1555398380
|
|
NM_000138.5(FBN1):c.3707G>A (p.Cys1236Tyr)
|
rs1555398377
|
|
NM_000138.5(FBN1):c.3712+16C>T
|
|
|
NM_000138.5(FBN1):c.3712+1G>T
|
rs794728209
|
|
NM_000138.5(FBN1):c.3712+9G>A
|
|
|
NM_000138.5(FBN1):c.3712+9G>T
|
rs769251450
|
|
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn)
|
rs794728208
|
|
NM_000138.5(FBN1):c.3712G>C (p.Asp1238His)
|
rs794728208
|
|
NM_000138.5(FBN1):c.3713-17G>T
|
|
|
NM_000138.5(FBN1):c.3713-1G>T
|
rs2141289776
|
|
NM_000138.5(FBN1):c.3713-2A>C
|
|
|
NM_000138.5(FBN1):c.3713-4G>A
|
rs2141289788
|
|
NM_000138.5(FBN1):c.3721G>A (p.Glu1241Lys)
|
|
|
NM_000138.5(FBN1):c.3721_3732del (p.Glu1241_Asp1244del)
|
|
|
NM_000138.5(FBN1):c.3722A>G (p.Glu1241Gly)
|
rs2043485666
|
|
NM_000138.5(FBN1):c.3724T>C (p.Cys1242Arg)
|
rs2141289747
|
|
NM_000138.5(FBN1):c.3725G>A (p.Cys1242Tyr)
|
rs137854471
|
|
NM_000138.5(FBN1):c.3726T>G (p.Cys1242Trp)
|
|
|
NM_000138.5(FBN1):c.372G>A (p.Met124Ile)
|
rs1555405050
|
|
NM_000138.5(FBN1):c.3730G>A (p.Asp1244Asn)
|
|
|
NM_000138.5(FBN1):c.3745T>G (p.Cys1249Gly)
|
|
|
NM_000138.5(FBN1):c.3746G>A (p.Cys1249Tyr)
|
|
|
NM_000138.5(FBN1):c.3746G>C (p.Cys1249Ser)
|
rs137854458
|
|
NM_000138.5(FBN1):c.3748G>T (p.Asp1250Tyr)
|
rs1555398288
|
|
NM_000138.5(FBN1):c.3757C>T (p.Gln1253Ter)
|
rs1131691311
|
|
NM_000138.5(FBN1):c.3758A>C (p.Gln1253Pro)
|
|
|
NM_000138.5(FBN1):c.3759G>C (p.Gln1253His)
|
rs2141289701
|
|
NM_000138.5(FBN1):c.3759del (p.Gln1253fs)
|
rs1555398287
|
|
NM_000138.5(FBN1):c.3766A>C (p.Asn1256His)
|
rs772890884
|
|
NM_000138.5(FBN1):c.3766A>G (p.Asn1256Asp)
|
rs772890884
|
|
NM_000138.5(FBN1):c.376G>T (p.Gly126Ter)
|
rs1597625734
|
|
NM_000138.5(FBN1):c.3772C>T (p.Pro1258Ser)
|
rs397515795
|
|
NM_000138.5(FBN1):c.3778G>T (p.Glu1260Ter)
|
rs1555398283
|
|
NM_000138.5(FBN1):c.3780G>A (p.Glu1260=)
|
|
|
NM_000138.5(FBN1):c.3783del (p.Glu1260_Tyr1261insTer)
|
rs1555398282
|
|
NM_000138.5(FBN1):c.3786G>A (p.Arg1262=)
|
rs1555398280
|
|
NM_000138.5(FBN1):c.3786G>T (p.Arg1262Ser)
|
rs1555398280
|
|
NM_000138.5(FBN1):c.3788G>T (p.Cys1263Phe)
|
|
|
NM_000138.5(FBN1):c.378A>C (p.Gly126=)
|
|
|
NM_000138.5(FBN1):c.3793T>C (p.Cys1265Arg)
|
rs137854474
|
|
NM_000138.5(FBN1):c.3793_3799del (p.Cys1265fs)
|
rs1555398276
|
|
NM_000138.5(FBN1):c.3794G>A (p.Cys1265Tyr)
|
|
|
NM_000138.5(FBN1):c.3794G>C (p.Cys1265Ser)
|
rs1555398279
|
|
NM_000138.5(FBN1):c.3794G>T (p.Cys1265Phe)
|
rs1555398279
|
|
NM_000138.5(FBN1):c.3795T>A (p.Cys1265Ter)
|
rs1555398278
|
|
NM_000138.5(FBN1):c.379G>T (p.Gly127Cys)
|
|
|
NM_000138.5(FBN1):c.3801T>C (p.Asp1267=)
|
rs769208631
|
|
NM_000138.5(FBN1):c.3808A>T (p.Met1270Leu)
|
|
|
NM_000138.5(FBN1):c.380G>T (p.Gly127Val)
|
|
|
NM_000138.5(FBN1):c.3815C>A (p.Ser1272Tyr)
|
rs1555398270
|
|
NM_000138.5(FBN1):c.3816del (p.Glu1273fs)
|
rs2141289577
|
|
NM_000138.5(FBN1):c.381T>C (p.Gly127=)
|
|
|
NM_000138.5(FBN1):c.3823A>G (p.Met1275Val)
|
rs747414686
|
|
NM_000138.5(FBN1):c.3823_3830del (p.Met1275fs)
|
|
|
NM_000138.5(FBN1):c.3833G>A (p.Cys1278Tyr)
|
|
|
NM_000138.5(FBN1):c.3838+16A>G
|
|
|
NM_000138.5(FBN1):c.3838+18A>T
|
|
|
NM_000138.5(FBN1):c.3838+3A>T
|
rs1555398265
|
|
NM_000138.5(FBN1):c.3838G>A (p.Asp1280Asn)
|
rs794728210
|
|
NM_000138.5(FBN1):c.3839-15A>C
|
|
|
NM_000138.5(FBN1):c.3839-19T>C
|
|
|
NM_000138.5(FBN1):c.3839-20A>G
|
rs891189448
|
|
NM_000138.5(FBN1):c.3839A>T (p.Asp1280Val)
|
rs1555398179
|
|
NM_000138.5(FBN1):c.3839_3846del (p.Asp1280fs)
|
rs113603747
|
|
NM_000138.5(FBN1):c.3843C>A (p.Val1281=)
|
|
|
NM_000138.5(FBN1):c.3847G>A (p.Glu1283Lys)
|
rs1555398176
|
|
NM_000138.5(FBN1):c.3848A>C (p.Glu1283Ala)
|
rs397515796
|
|
NM_000138.5(FBN1):c.3848A>T (p.Glu1283Val)
|
rs397515796
|
|
NM_000138.5(FBN1):c.3849G>A (p.Glu1283=)
|
|
|
NM_000138.5(FBN1):c.3849del (p.Glu1283fs)
|
rs1555398174
|
|
NM_000138.5(FBN1):c.3850T>A (p.Cys1284Ser)
|
rs2043467154
|
|
NM_000138.5(FBN1):c.3850T>C (p.Cys1284Arg)
|
rs2043467154
|
|
NM_000138.5(FBN1):c.3850dup (p.Cys1284fs)
|
|
|
NM_000138.5(FBN1):c.3851G>A (p.Cys1284Tyr)
|
rs1555398173
|
|
NM_000138.5(FBN1):c.3853G>A (p.Asp1285Asn)
|
rs1555398171
|
|
NM_000138.5(FBN1):c.385T>G (p.Cys129Gly)
|
rs199474693
|
|
NM_000138.5(FBN1):c.3869T>C (p.Ile1290Thr)
|
rs2043467019
|
|
NM_000138.5(FBN1):c.386G>A (p.Cys129Tyr)
|
rs1566935517
|
|
NM_000138.5(FBN1):c.386G>T (p.Cys129Phe)
|
rs1566935517
|
|
NM_000138.5(FBN1):c.3870C>T (p.Ile1290=)
|
rs2043466994
|
|
NM_000138.5(FBN1):c.3871del (p.Cys1291fs)
|
rs2141287465
|
|
NM_000138.5(FBN1):c.3874del (p.Cys1291_Leu1292insTer)
|
rs1597559048
|
|
NM_000138.5(FBN1):c.3875T>C (p.Leu1292Pro)
|
rs2141287453
|
|
NM_000138.5(FBN1):c.3878_3891del (p.Ser1293fs)
|
|
|
NM_000138.5(FBN1):c.3881G>T (p.Gly1294Val)
|
rs1060501064
|
|
NM_000138.5(FBN1):c.3886T>C (p.Cys1296Arg)
|
rs397515797
|
|
NM_000138.5(FBN1):c.3893A>C (p.Asn1298Thr)
|
|
|
NM_000138.5(FBN1):c.3893del (p.Asn1298fs)
|
rs869025425
|
|
NM_000138.5(FBN1):c.3893dup (p.Asn1298fs)
|
rs869025425
|
|
NM_000138.5(FBN1):c.3895dup (p.Thr1299fs)
|
rs1555398160
|
|
NM_000138.5(FBN1):c.3897G>C (p.Thr1299=)
|
rs771283158
|
|
NM_000138.5(FBN1):c.3900_3903del (p.Lys1300fs)
|
rs2043466554
|
|
NM_000138.5(FBN1):c.3901_3904dup (p.Ser1302fs)
|
rs2141287379
|
|
NM_000138.5(FBN1):c.3902G>T (p.Gly1301Val)
|
rs1566908083
|
|
NM_000138.5(FBN1):c.3902del (p.Gly1301fs)
|
rs2141287396
|
|
NM_000138.5(FBN1):c.3903C>T (p.Gly1301=)
|
rs1018707026
|
|
NM_000138.5(FBN1):c.3904T>C (p.Ser1302Pro)
|
rs2141287376
|
|
NM_000138.5(FBN1):c.3904_3915del (p.Ser1302_Cys1305del)
|
|
|
NM_000138.5(FBN1):c.3906dup (p.Phe1303fs)
|
rs2141287368
|
|
NM_000138.5(FBN1):c.390del (p.Ser130fs)
|
rs1555405045
|
|
NM_000138.5(FBN1):c.3914G>A (p.Cys1305Tyr)
|
|
|
NM_000138.5(FBN1):c.3915C>A (p.Cys1305Ter)
|
rs1555398152
|
|
NM_000138.5(FBN1):c.3920G>A (p.Cys1307Tyr)
|
|
|
NM_000138.5(FBN1):c.3921T>G (p.Cys1307Trp)
|
rs2043466446
|
|
NM_000138.5(FBN1):c.3921_3922del (p.Cys1307_Asp1308delinsTer)
|
|
|
NM_000138.5(FBN1):c.3925dup (p.Met1309fs)
|
|
|
NM_000138.5(FBN1):c.3928G>A (p.Gly1310Ser)
|
|
|
NM_000138.5(FBN1):c.3928G>C (p.Gly1310Arg)
|
|
|
NM_000138.5(FBN1):c.3928G>T (p.Gly1310Cys)
|
rs2043466325
|
|
NM_000138.5(FBN1):c.3929dup (p.Tyr1311fs)
|
rs2141287336
|
|
NM_000138.5(FBN1):c.3932A>G (p.Tyr1311Cys)
|
rs1555398148
|
|
NM_000138.5(FBN1):c.3936C>A (p.Ser1312=)
|
rs779913610
|
|
NM_000138.5(FBN1):c.3938G>C (p.Gly1313Ala)
|
|
|
NM_000138.5(FBN1):c.3939C>G (p.Gly1313=)
|
rs1597558962
|
|
NM_000138.5(FBN1):c.3944A>G (p.Lys1315Arg)
|
|
|
NM_000138.5(FBN1):c.3945del (p.Gly1316fs)
|
rs1555398144
|
|
NM_000138.5(FBN1):c.3945dup (p.Gly1316fs)
|
rs1555398144
|
|
NM_000138.5(FBN1):c.3947_3948delinsT (p.Gly1316fs)
|
rs1555398139
|
|
NM_000138.5(FBN1):c.394G>A (p.Asp132Asn)
|
|
|
NM_000138.5(FBN1):c.3952dup (p.Thr1318fs)
|
rs1566908063
|
|
NM_000138.5(FBN1):c.3956G>C (p.Gly1319Ala)
|
|
|
NM_000138.5(FBN1):c.3958T>C (p.Cys1320Arg)
|
rs1597558920
|
|
NM_000138.5(FBN1):c.3959G>C (p.Cys1320Ser)
|
rs113393517
|
|
NM_000138.5(FBN1):c.3959G>T (p.Cys1320Phe)
|
rs113393517
|
|
NM_000138.5(FBN1):c.3962C>T (p.Thr1321Ile)
|
rs750219182
|
|
NM_000138.5(FBN1):c.3962dup (p.Asp1322fs)
|
rs1555398137
|
|
NM_000138.5(FBN1):c.3963A>G (p.Thr1321=)
|
rs140648
|
|
NM_000138.5(FBN1):c.3963A>T (p.Thr1321=)
|
|
|
NM_000138.5(FBN1):c.3964+12C>G
|
|
|
NM_000138.5(FBN1):c.3964+13A>C
|
|
|
NM_000138.5(FBN1):c.3964+2T>C
|
|
|
NM_000138.5(FBN1):c.3964+5G>T
|
rs2043465883
|
|
NM_000138.5(FBN1):c.3964+9G>T
|
rs1412748899
|
|
NM_000138.5(FBN1):c.3964G>T (p.Asp1322Tyr)
|
|
|
NM_000138.5(FBN1):c.3965-10A>G
|
|
|
NM_000138.5(FBN1):c.3965-15dup
|
rs2043405703
|
|
NM_000138.5(FBN1):c.3965-2A>T
|
rs387906547
|
|
NM_000138.5(FBN1):c.3965A>G (p.Asp1322Gly)
|
rs1555397744
|
|
NM_000138.5(FBN1):c.3966C>T (p.Asp1322=)
|
rs2141280317
|
|
NM_000138.5(FBN1):c.3969C>A (p.Ile1323=)
|
rs536546914
|
|
NM_000138.5(FBN1):c.3971A>C (p.Asn1324Thr)
|
|
|
NM_000138.5(FBN1):c.3973G>T (p.Glu1325Ter)
|
rs2141280296
|
|
NM_000138.5(FBN1):c.3973dup (p.Glu1325fs)
|
rs1555397743
|
|
NM_000138.5(FBN1):c.3974A>C (p.Glu1325Ala)
|
rs794728331
|
|
NM_000138.5(FBN1):c.3975A>C (p.Glu1325Asp)
|
rs1555397741
|
|
NM_000138.5(FBN1):c.3975A>G (p.Glu1325=)
|
rs1555397741
|
|
NM_000138.5(FBN1):c.3976T>C (p.Cys1326Arg)
|
|
|
NM_000138.5(FBN1):c.3977G>A (p.Cys1326Tyr)
|
rs1555397738
|
|
NM_000138.5(FBN1):c.3977del (p.Cys1326fs)
|
rs2141280278
|
|
NM_000138.5(FBN1):c.3988G>A (p.Ala1330Thr)
|
|
|
NM_000138.5(FBN1):c.3988G>C (p.Ala1330Pro)
|
|
|
NM_000138.5(FBN1):c.3989C>T (p.Ala1330Val)
|
|
|
NM_000138.5(FBN1):c.3993del (p.His1331fs)
|
rs1555397736
|
|
NM_000138.5(FBN1):c.3998G>A (p.Cys1333Tyr)
|
rs2043405073
|
|
NM_000138.5(FBN1):c.3999_4000del (p.Cys1333fs)
|
|
|
NM_000138.5(FBN1):c.3G>A (p.Met1Ile)
|
rs886039072
|
|
NM_000138.5(FBN1):c.4002_4003del (p.Lys1335fs)
|
rs2141280251
|
|
NM_000138.5(FBN1):c.4003_4004insCACAACTCTGGCA (p.Lys1335fs)
|
rs1555397733
|
|
NM_000138.5(FBN1):c.4007_4010del (p.His1336fs)
|
|
|
NM_000138.5(FBN1):c.4009G>C (p.Ala1337Pro)
|
rs753648789
|
|
NM_000138.5(FBN1):c.400T>C (p.Cys134Arg)
|
rs1555405044
|
|
NM_000138.5(FBN1):c.4011del (p.Val1338fs)
|
rs2043404959
|
|
NM_000138.5(FBN1):c.4011dup (p.Val1338fs)
|
|
|
NM_000138.5(FBN1):c.4016G>A (p.Cys1339Tyr)
|
rs397515798
|
|
NM_000138.5(FBN1):c.4016G>C (p.Cys1339Ser)
|
rs397515798
|
|
NM_000138.5(FBN1):c.401G>A (p.Cys134Tyr)
|
rs1555405043
|
|
NM_000138.5(FBN1):c.4020del (p.Asn1341fs)
|
rs2141280222
|
|
NM_000138.5(FBN1):c.4022A>G (p.Asn1341Ser)
|
rs140638
|
|
NM_000138.5(FBN1):c.4023T>C (p.Asn1341=)
|
rs2043404831
|
|
NM_000138.5(FBN1):c.4024dup (p.Thr1342fs)
|
|
|
NM_000138.5(FBN1):c.4029del (p.Gly1344fs)
|
rs2043404761
|
|
NM_000138.5(FBN1):c.4031G>A (p.Gly1344Glu)
|
rs1555397725
|
|
NM_000138.5(FBN1):c.4032_4033del (p.Ser1345fs)
|
rs1555397723
|
|
NM_000138.5(FBN1):c.4033A>C (p.Ser1345Arg)
|
|
|
NM_000138.5(FBN1):c.4034G>T (p.Ser1345Ile)
|
rs767079851
|
|
NM_000138.5(FBN1):c.4035C>T (p.Ser1345=)
|
rs1400471354
|
|
NM_000138.5(FBN1):c.4036T>G (p.Phe1346Val)
|
rs1566906537
|
|
NM_000138.5(FBN1):c.4042T>C (p.Cys1348Arg)
|
rs2141280160
|
|
NM_000138.5(FBN1):c.4043G>A (p.Cys1348Tyr)
|
rs1555397720
|
|
NM_000138.5(FBN1):c.4043G>T (p.Cys1348Phe)
|
rs1555397720
|
|
NM_000138.5(FBN1):c.4044T>G (p.Cys1348Trp)
|
rs1555397719
|
|
NM_000138.5(FBN1):c.4048T>A (p.Cys1350Ser)
|
rs397515799
|
|
NM_000138.5(FBN1):c.4048T>C (p.Cys1350Arg)
|
rs397515799
|
|
NM_000138.5(FBN1):c.4048T>G (p.Cys1350Gly)
|
rs397515799
|
|
NM_000138.5(FBN1):c.4049G>A (p.Cys1350Tyr)
|
rs1555397718
|
|
NM_000138.5(FBN1):c.4049G>T (p.Cys1350Phe)
|
rs1555397718
|
|
NM_000138.5(FBN1):c.4056del (p.Trp1354fs)
|
rs1555397713
|
|
NM_000138.5(FBN1):c.4057G>C (p.Gly1353Arg)
|
rs187177496
|
|
NM_000138.5(FBN1):c.4057G>T (p.Gly1353Trp)
|
rs187177496
|
|
NM_000138.5(FBN1):c.4061G>A (p.Trp1354Ter)
|
rs1060501039
|
|
NM_000138.5(FBN1):c.4065T>A (p.Ile1355=)
|
|
|
NM_000138.5(FBN1):c.4066G>A (p.Gly1356Arg)
|
rs867460746
|
|
NM_000138.5(FBN1):c.4068A>C (p.Gly1356=)
|
rs1555397706
|
|
NM_000138.5(FBN1):c.406T>A (p.Cys136Ser)
|
rs1555405041
|
|
NM_000138.5(FBN1):c.406T>C (p.Cys136Arg)
|
rs1555405041
|
|
NM_000138.5(FBN1):c.406T>G (p.Cys136Gly)
|
rs1555405041
|
|
NM_000138.5(FBN1):c.406dup (p.Cys136fs)
|
rs1555405042
|
|
NM_000138.5(FBN1):c.4079del (p.Lys1360fs)
|
rs2141280061
|
|
NM_000138.5(FBN1):c.407G>A (p.Cys136Tyr)
|
|
|
NM_000138.5(FBN1):c.407G>T (p.Cys136Phe)
|
|
|
NM_000138.5(FBN1):c.4081T>C (p.Cys1361Arg)
|
rs1566906506
|
|
NM_000138.5(FBN1):c.4082G>A (p.Cys1361Tyr)
|
rs1555397704
|
|
NM_000138.5(FBN1):c.4085C>G (p.Thr1362Ser)
|
|
|
NM_000138.5(FBN1):c.4087+1G>A
|
rs387906548
|
|
NM_000138.5(FBN1):c.4087+5G>A
|
rs1555397692
|
|
NM_000138.5(FBN1):c.4087G>T (p.Asp1363Tyr)
|
|
|
NM_000138.5(FBN1):c.4088-13C>T
|
|
|
NM_000138.5(FBN1):c.4088-14C>A
|
|
|
NM_000138.5(FBN1):c.4088-15A>C
|
|
|
NM_000138.5(FBN1):c.4088-17T>C
|
rs1397067049
|
|
NM_000138.5(FBN1):c.4088-2A>C
|
rs1555397671
|
|
NM_000138.5(FBN1):c.4088-2A>G
|
|
|
NM_000138.5(FBN1):c.4088-8T>C
|
|
|
NM_000138.5(FBN1):c.4088-8del
|
rs1325437178
|
|
NM_000138.5(FBN1):c.4088A>T (p.Asp1363Val)
|
rs2043402890
|
|
NM_000138.5(FBN1):c.408C>A (p.Cys136Ter)
|
rs1555405039
|
|
NM_000138.5(FBN1):c.4094A>G (p.Asp1365Gly)
|
rs794728217
|
|
NM_000138.5(FBN1):c.4096G>A (p.Glu1366Lys)
|
rs763449629
|
|
NM_000138.5(FBN1):c.4096G>C (p.Glu1366Gln)
|
rs763449629
|
|
NM_000138.5(FBN1):c.4098dup (p.Cys1367fs)
|
|
|
NM_000138.5(FBN1):c.4099T>A (p.Cys1367Ser)
|
rs1555397670
|
|
NM_000138.5(FBN1):c.4099T>C (p.Cys1367Arg)
|
rs1555397670
|
|
NM_000138.5(FBN1):c.409C>T (p.Gln137Ter)
|
rs1060501047
|
|
NM_000138.5(FBN1):c.4100G>A (p.Cys1367Tyr)
|
rs2141279869
|
|
NM_000138.5(FBN1):c.4101T>A (p.Cys1367Ter)
|
|
|
NM_000138.5(FBN1):c.4107T>C (p.Asn1369=)
|
rs765588220
|
|
NM_000138.5(FBN1):c.4111A>G (p.Thr1371Ala)
|
|
|
NM_000138.5(FBN1):c.4120T>C (p.Cys1374Arg)
|
rs2141279837
|
|
NM_000138.5(FBN1):c.4120T>G (p.Cys1374Gly)
|
rs2141279837
|
|
NM_000138.5(FBN1):c.4121G>A (p.Cys1374Tyr)
|
rs2141279835
|
|
NM_000138.5(FBN1):c.4125C>G (p.Ser1375Arg)
|
rs1555397666
|
|
NM_000138.5(FBN1):c.4127A>G (p.Gln1376Arg)
|
rs1597553861
|
|
NM_000138.5(FBN1):c.4130A>T (p.His1377Leu)
|
rs1238143005
|
|
NM_000138.5(FBN1):c.4134A>T (p.Ala1378=)
|
|
|
NM_000138.5(FBN1):c.4139G>A (p.Cys1380Tyr)
|
|
|
NM_000138.5(FBN1):c.4143G>C (p.Lys1381Asn)
|
rs2043402274
|
|
NM_000138.5(FBN1):c.4144A>T (p.Asn1382Tyr)
|
|
|
NM_000138.5(FBN1):c.4145A>T (p.Asn1382Ile)
|
rs1555397661
|
|
NM_000138.5(FBN1):c.4145dup (p.Asn1382fs)
|
rs1555397663
|
|
NM_000138.5(FBN1):c.4146T>C (p.Asn1382=)
|
|
|
NM_000138.5(FBN1):c.4149C>G (p.Thr1383=)
|
|
|
NM_000138.5(FBN1):c.4149_4154del (p.Met1384_Gly1385del)
|
|
|
NM_000138.5(FBN1):c.4151T>C (p.Met1384Thr)
|
rs1555397658
|
|
NM_000138.5(FBN1):c.4152G>A (p.Met1384Ile)
|
rs1488326228
|
|
NM_000138.5(FBN1):c.4154del (p.Gly1385fs)
|
rs2043402092
|
|
NM_000138.5(FBN1):c.4155A>T (p.Gly1385=)
|
rs2141279769
|
|
NM_000138.5(FBN1):c.4159T>G (p.Tyr1387Asp)
|
rs1555397656
|
|
NM_000138.5(FBN1):c.415G>T (p.Gly139Ter)
|
|
|
NM_000138.5(FBN1):c.4160A>G (p.Tyr1387Cys)
|
rs397515801
|
|
NM_000138.5(FBN1):c.4161C>A (p.Tyr1387Ter)
|
|
|
NM_000138.5(FBN1):c.4162C>A (p.Arg1388Ser)
|
rs770860280
|
|
NM_000138.5(FBN1):c.4163G>C (p.Arg1388Pro)
|
rs749196340
|
|
NM_000138.5(FBN1):c.4163G>T (p.Arg1388Leu)
|
rs749196340
|
|
NM_000138.5(FBN1):c.4164C>A (p.Arg1388=)
|
|
|
NM_000138.5(FBN1):c.4165T>G (p.Cys1389Gly)
|
rs193922203
|
|
NM_000138.5(FBN1):c.4166G>A (p.Cys1389Tyr)
|
rs1060501026
|
|
NM_000138.5(FBN1):c.4166G>C (p.Cys1389Ser)
|
rs1060501026
|
|
NM_000138.5(FBN1):c.4168_4171del (p.Leu1390fs)
|
rs1555397655
|
|
NM_000138.5(FBN1):c.4172G>A (p.Cys1391Tyr)
|
rs1352478541
|
|
NM_000138.5(FBN1):c.4174A>G (p.Lys1392Glu)
|
rs756683929
|
|
NM_000138.5(FBN1):c.4177_4199del (p.Glu1393fs)
|
rs1566906389
|
|
NM_000138.5(FBN1):c.4177del (p.Glu1393fs)
|
rs2043401705
|
|
NM_000138.5(FBN1):c.4179A>G (p.Glu1393=)
|
rs1597553731
|
|
NM_000138.5(FBN1):c.4179_4182del (p.Glu1393fs)
|
|
|
NM_000138.5(FBN1):c.4180G>T (p.Gly1394Ter)
|
rs2141279711
|
|
NM_000138.5(FBN1):c.4183T>C (p.Tyr1395His)
|
rs1555397653
|
|
NM_000138.5(FBN1):c.4185C>T (p.Tyr1395=)
|
rs2043401602
|
|
NM_000138.5(FBN1):c.4187C>T (p.Thr1396Ile)
|
rs2043401571
|
|
NM_000138.5(FBN1):c.4188del (p.Gly1397fs)
|
rs1555397652
|
|
NM_000138.5(FBN1):c.4190G>T (p.Gly1397Val)
|
rs747867726
|
|
NM_000138.5(FBN1):c.4191T>C (p.Gly1397=)
|
|
|
NM_000138.5(FBN1):c.4192G>A (p.Asp1398Asn)
|
rs1597553721
|
|
NM_000138.5(FBN1):c.4193A>G (p.Asp1398Gly)
|
rs781045902
|
|
NM_000138.5(FBN1):c.4196_4197insA (p.Phe1400fs)
|
|
|
NM_000138.5(FBN1):c.4197C>T (p.Gly1399=)
|
|
|
NM_000138.5(FBN1):c.4197del (p.Phe1400fs)
|
rs869025421
|
|
NM_000138.5(FBN1):c.4204T>G (p.Cys1402Gly)
|
rs2141279646
|
|
NM_000138.5(FBN1):c.4205G>A (p.Cys1402Tyr)
|
rs1555397646
|
|
NM_000138.5(FBN1):c.4208C>T (p.Thr1403Ile)
|
|
|
NM_000138.5(FBN1):c.4210+11G>A
|
rs148057138
|
|
NM_000138.5(FBN1):c.4210+14G>T
|
|
|
NM_000138.5(FBN1):c.4210+15G>A
|
|
|
NM_000138.5(FBN1):c.4210+15G>C
|
|
|
NM_000138.5(FBN1):c.4210+16A>C
|
|
|
NM_000138.5(FBN1):c.4210+16A>G
|
|
|
NM_000138.5(FBN1):c.4210+1G>A
|
rs730880106
|
|
NM_000138.5(FBN1):c.4210+3A>G
|
rs1457293645
|
|
NM_000138.5(FBN1):c.4210+3A>T
|
|
|
NM_000138.5(FBN1):c.4210G>A (p.Asp1404Asn)
|
rs794728220
|
|
NM_000138.5(FBN1):c.4210G>C (p.Asp1404His)
|
rs794728220
|
|
NM_000138.5(FBN1):c.424G>A (p.Gly142Arg)
|
|
|
NM_000138.5(FBN1):c.425G>A (p.Gly142Glu)
|
rs1555405036
|
|
NM_000138.5(FBN1):c.430C>T (p.His144Tyr)
|
|
|
NM_000138.5(FBN1):c.431A>G (p.His144Arg)
|
|
|
NM_000138.5(FBN1):c.432C>A (p.His144Gln)
|
|
|
NM_000138.5(FBN1):c.432C>G (p.His144Gln)
|
|
|
NM_000138.5(FBN1):c.4337-12C>T
|
rs573468967
|
|
NM_000138.5(FBN1):c.4337-1G>A
|
rs1555397424
|
|
NM_000138.5(FBN1):c.4337-1G>T
|
rs1555397424
|
|
NM_000138.5(FBN1):c.4337-2A>G
|
rs794728216
|
|
NM_000138.5(FBN1):c.4337-2A>T
|
rs794728216
|
|
NM_000138.5(FBN1):c.4337-4dup
|
rs1566905439
|
|
NM_000138.5(FBN1):c.4337-55dup
|
rs138034853
|
|
NM_000138.5(FBN1):c.4337-5C>A
|
rs370959127
|
|
NM_000138.5(FBN1):c.4337-8C>A
|
rs1458842000
|
|
NM_000138.5(FBN1):c.4337A>G (p.Asp1446Gly)
|
rs397515806
|
|
NM_000138.5(FBN1):c.4337A>T (p.Asp1446Val)
|
rs397515806
|
|
NM_000138.5(FBN1):c.433T>C (p.Cys145Arg)
|
rs1555405031
|
|
NM_000138.5(FBN1):c.433T>G (p.Cys145Gly)
|
rs1555405031
|
|
NM_000138.5(FBN1):c.4341_4344del (p.Ile1447fs)
|
|
|
NM_000138.5(FBN1):c.4345_4346insCACT (p.Glu1449fs)
|
rs2043366702
|
|
NM_000138.5(FBN1):c.4346_4349dup (p.Cys1450Ter)
|
rs1555397420
|
|
NM_000138.5(FBN1):c.4347G>T (p.Glu1449Asp)
|
rs1555397423
|
|
NM_000138.5(FBN1):c.4348T>A (p.Cys1450Ser)
|
rs1555397421
|
|
NM_000138.5(FBN1):c.4348T>C (p.Cys1450Arg)
|
rs1555397421
|
|
NM_000138.5(FBN1):c.4349G>A (p.Cys1450Tyr)
|
rs1555397419
|
|
NM_000138.5(FBN1):c.4349G>T (p.Cys1450Phe)
|
rs1555397419
|
|
NM_000138.5(FBN1):c.434G>A (p.Cys145Tyr)
|
rs878853682
|
|
NM_000138.5(FBN1):c.4358C>A (p.Pro1453Gln)
|
|
|
NM_000138.5(FBN1):c.4362C>T (p.Asn1454=)
|
rs1060504145
|
|
NM_000138.5(FBN1):c.4364T>G (p.Ile1455Ser)
|
rs397515807
|
|
NM_000138.5(FBN1):c.4367G>A (p.Cys1456Tyr)
|
rs397515805
|
|
NM_000138.5(FBN1):c.4367G>C (p.Cys1456Ser)
|
rs397515805
|
|
NM_000138.5(FBN1):c.4367G>T (p.Cys1456Phe)
|
rs397515805
|
|
NM_000138.5(FBN1):c.4369_4370del (p.Val1457fs)
|
rs1060501043
|
|
NM_000138.5(FBN1):c.4381T>C (p.Cys1461Arg)
|
rs2141275778
|
|
NM_000138.5(FBN1):c.4382G>A (p.Cys1461Tyr)
|
rs1057522902
|
|
NM_000138.5(FBN1):c.4382G>C (p.Cys1461Ser)
|
rs1057522902
|
|
NM_000138.5(FBN1):c.4382G>T (p.Cys1461Phe)
|
rs1057522902
|
|
NM_000138.5(FBN1):c.4388A>G (p.Asn1463Ser)
|
rs1555397413
|
|
NM_000138.5(FBN1):c.4389C>A (p.Asn1463Lys)
|
rs1555397412
|
|
NM_000138.5(FBN1):c.4395T>C (p.Pro1465=)
|
rs1555397410
|
|
NM_000138.5(FBN1):c.439C>T (p.Gln147Ter)
|
rs886039036
|
|
NM_000138.5(FBN1):c.4401G>A (p.Leu1467=)
|
|
|
NM_000138.5(FBN1):c.4401G>C (p.Leu1467=)
|
rs747377334
|
|
NM_000138.5(FBN1):c.4404C>G (p.Phe1468Leu)
|
rs780479561
|
|
NM_000138.5(FBN1):c.4404C>T (p.Phe1468=)
|
rs780479561
|
|
NM_000138.5(FBN1):c.4405del (p.Arg1469fs)
|
rs794728308
|
|
NM_000138.5(FBN1):c.4406G>C (p.Arg1469Pro)
|
rs397515808
|
|
NM_000138.5(FBN1):c.4406G>T (p.Arg1469Leu)
|
rs397515808
|
|
NM_000138.5(FBN1):c.4407_4409dup (p.Cys1470dup)
|
rs1555397404
|
|
NM_000138.5(FBN1):c.4409G>A (p.Cys1470Tyr)
|
rs2043365537
|
|
NM_000138.5(FBN1):c.440A>G (p.Gln147Arg)
|
rs747815650
|
|
NM_000138.5(FBN1):c.4410_4411del (p.Cys1470_Glu1471delinsTer)
|
rs2141275703
|
|
NM_000138.5(FBN1):c.4410dup (p.Glu1471Ter)
|
rs2043365502
|
|
NM_000138.5(FBN1):c.4412_4415del (p.Glu1471fs)
|
rs886038846
|
|
NM_000138.5(FBN1):c.4414T>A (p.Cys1472Ser)
|
rs1555397403
|
|
NM_000138.5(FBN1):c.4414T>C (p.Cys1472Arg)
|
rs1555397403
|
|
NM_000138.5(FBN1):c.441del (p.Gln147fs)
|
rs1555405028
|
|
NM_000138.5(FBN1):c.442+4A>C
|
rs768207411
|
|
NM_000138.5(FBN1):c.442+8C>T
|
rs771771077
|
|
NM_000138.5(FBN1):c.4429G>A (p.Glu1477Lys)
|
rs869025407
|
|
NM_000138.5(FBN1):c.443-12C>A
|
rs1027154934
|
|
NM_000138.5(FBN1):c.443-13C>T
|
|
|
NM_000138.5(FBN1):c.443-15C>A
|
rs2044516377
|
|
NM_000138.5(FBN1):c.443-17C>G
|
|
|
NM_000138.5(FBN1):c.443-1G>A
|
rs1555404821
|
|
NM_000138.5(FBN1):c.443-20G>A
|
|
|
NM_000138.5(FBN1):c.443-8T>C
|
rs1319616777
|
|
NM_000138.5(FBN1):c.443-9A>T
|
|
|
NM_000138.5(FBN1):c.4437C>G (p.Asp1479Glu)
|
rs370161725
|
|
NM_000138.5(FBN1):c.443del (p.Pro148fs)
|
rs1555404820
|
|
NM_000138.5(FBN1):c.4453T>C (p.Cys1485Arg)
|
rs730880101
|
|
NM_000138.5(FBN1):c.4453T>G (p.Cys1485Gly)
|
rs730880101
|
|
NM_000138.5(FBN1):c.4454G>A (p.Cys1485Tyr)
|
rs111978932
|
|
NM_000138.5(FBN1):c.4454G>C (p.Cys1485Ser)
|
rs111978932
|
|
NM_000138.5(FBN1):c.4458A>C (p.Thr1486=)
|
|
|
NM_000138.5(FBN1):c.4459+15G>T
|
|
|
NM_000138.5(FBN1):c.4459+16G>A
|
|
|
NM_000138.5(FBN1):c.4459+1G>A
|
|
|
NM_000138.5(FBN1):c.4459+2T>G
|
rs1555397393
|
|
NM_000138.5(FBN1):c.4459+3A>C
|
|
|
NM_000138.5(FBN1):c.4459+3A>T
|
rs397515809
|
|
NM_000138.5(FBN1):c.4459G>A (p.Asp1487Asn)
|
rs113693945
|
|
NM_000138.5(FBN1):c.4460-1G>C
|
rs113082854
|
|
NM_000138.5(FBN1):c.4460-1G>T
|
|
|
NM_000138.5(FBN1):c.4460-9C>A
|
rs372753740
|
|
NM_000138.5(FBN1):c.4460A>C (p.Asp1487Ala)
|
rs1555397216
|
|
NM_000138.5(FBN1):c.4460A>G (p.Asp1487Gly)
|
rs1555397216
|
|
NM_000138.5(FBN1):c.4462G>T (p.Val1488Leu)
|
rs1566904712
|
|
NM_000138.5(FBN1):c.4466A>G (p.Asn1489Ser)
|
rs1057518501
|
|
NM_000138.5(FBN1):c.4467T>A (p.Asn1489Lys)
|
rs193922205
|
|
NM_000138.5(FBN1):c.4468G>A (p.Glu1490Lys)
|
rs1060501076
|
|
NM_000138.5(FBN1):c.4468G>T (p.Glu1490Ter)
|
rs1060501076
|
|
NM_000138.5(FBN1):c.4469A>G (p.Glu1490Gly)
|
rs2043341806
|
|
NM_000138.5(FBN1):c.4471T>C (p.Cys1491Arg)
|
rs2141273081
|
|
NM_000138.5(FBN1):c.4472G>A (p.Cys1491Tyr)
|
|
|
NM_000138.5(FBN1):c.4472G>T (p.Cys1491Phe)
|
rs2141273076
|
|
NM_000138.5(FBN1):c.4473C>G (p.Cys1491Trp)
|
rs2043341787
|
|
NM_000138.5(FBN1):c.4474del (p.Leu1492fs)
|
rs1555397214
|
|
NM_000138.5(FBN1):c.4487C>T (p.Thr1496Met)
|
rs776199613
|
|
NM_000138.5(FBN1):c.4489T>A (p.Cys1497Ser)
|
rs1555397213
|
|
NM_000138.5(FBN1):c.448T>C (p.Cys150Arg)
|
rs1555404819
|
|
NM_000138.5(FBN1):c.4490G>A (p.Cys1497Tyr)
|
rs1555397212
|
|
NM_000138.5(FBN1):c.4490G>C (p.Cys1497Ser)
|
rs1555397212
|
|
NM_000138.5(FBN1):c.4491C>A (p.Cys1497Ter)
|
rs2043341481
|
|
NM_000138.5(FBN1):c.4491C>G (p.Cys1497Trp)
|
rs2043341481
|
|
NM_000138.5(FBN1):c.449G>A (p.Cys150Tyr)
|
rs2140711857
|
|
NM_000138.5(FBN1):c.449G>T (p.Cys150Phe)
|
|
|
NM_000138.5(FBN1):c.44T>G (p.Val15Gly)
|
rs2140787791
|
|
NM_000138.5(FBN1):c.4501_4511del (p.Asn1501fs)
|
rs1555397210
|
|
NM_000138.5(FBN1):c.4503C>T (p.Asn1501=)
|
rs2043341420
|
|
NM_000138.5(FBN1):c.4504T>C (p.Cys1502Arg)
|
rs2141273019
|
|
NM_000138.5(FBN1):c.4505G>A (p.Cys1502Tyr)
|
rs397515810
|
|
NM_000138.5(FBN1):c.4506T>A (p.Cys1502Ter)
|
|
|
NM_000138.5(FBN1):c.4510A>T (p.Asn1504Tyr)
|
rs1555397211
|
|
NM_000138.5(FBN1):c.4511A>G (p.Asn1504Ser)
|
rs1555397209
|
|
NM_000138.5(FBN1):c.4511A>T (p.Asn1504Ile)
|
rs1555397209
|
|
NM_000138.5(FBN1):c.4512C>T (p.Asn1504=)
|
|
|
NM_000138.5(FBN1):c.4516C>G (p.Pro1506Ala)
|
rs794728224
|
|
NM_000138.5(FBN1):c.4517del (p.Pro1506fs)
|
rs2141272985
|
|
NM_000138.5(FBN1):c.451G>T (p.Glu151Ter)
|
rs1180715983
|
|
NM_000138.5(FBN1):c.4520G>A (p.Gly1507Asp)
|
rs794728225
|
|
NM_000138.5(FBN1):c.4521C>T (p.Gly1507=)
|
rs1425634624
|
|
NM_000138.5(FBN1):c.4523G>T (p.Ser1508Ile)
|
rs1555397207
|
|
NM_000138.5(FBN1):c.4525T>G (p.Tyr1509Asp)
|
|
|
NM_000138.5(FBN1):c.4526A>G (p.Tyr1509Cys)
|
rs730880102
|
|
NM_000138.5(FBN1):c.4531T>C (p.Cys1511Arg)
|
rs397515811
|
|
NM_000138.5(FBN1):c.4531T>G (p.Cys1511Gly)
|
rs397515811
|
|
NM_000138.5(FBN1):c.4532G>A (p.Cys1511Tyr)
|
rs1060501074
|
|
NM_000138.5(FBN1):c.4532del (p.Cys1511fs)
|
|
|
NM_000138.5(FBN1):c.4537T>G (p.Cys1513Gly)
|
|
|
NM_000138.5(FBN1):c.4538G>A (p.Cys1513Tyr)
|
rs1555397204
|
|
NM_000138.5(FBN1):c.4538G>T (p.Cys1513Phe)
|
rs1555397204
|
|
NM_000138.5(FBN1):c.4539C>G (p.Cys1513Trp)
|
rs1555397203
|
|
NM_000138.5(FBN1):c.4543C>T (p.Pro1515Ser)
|
rs1219583611
|
|
NM_000138.5(FBN1):c.4544_4546delinsAGAT (p.Pro1515fs)
|
|
|
NM_000138.5(FBN1):c.4549T>A (p.Phe1517Ile)
|
|
|
NM_000138.5(FBN1):c.454A>T (p.Ser152Cys)
|
rs193922206
|
|
NM_000138.5(FBN1):c.4555del (p.Glu1518_Leu1519insTer)
|
rs1555397199
|
|
NM_000138.5(FBN1):c.455G>A (p.Ser152Asn)
|
rs1288527435
|
|
NM_000138.5(FBN1):c.4562C>T (p.Pro1521Leu)
|
rs2141272892
|
|
NM_000138.5(FBN1):c.4562dup (p.Thr1522fs)
|
|
|
NM_000138.5(FBN1):c.4567C>T (p.Arg1523Ter)
|
rs397515812
|
|
NM_000138.5(FBN1):c.4569A>T (p.Arg1523=)
|
rs2141272876
|
|
NM_000138.5(FBN1):c.4570G>A (p.Val1524Ile)
|
rs2043340600
|
|
NM_000138.5(FBN1):c.4574G>A (p.Gly1525Asp)
|
rs1597549030
|
|
NM_000138.5(FBN1):c.4576T>C (p.Cys1526Arg)
|
|
|
NM_000138.5(FBN1):c.4577G>C (p.Cys1526Ser)
|
|
|
NM_000138.5(FBN1):c.4577G>T (p.Cys1526Phe)
|
|
|
NM_000138.5(FBN1):c.4579_4580del (p.Cys1526_Val1527insTer)
|
rs1555397197
|
|
NM_000138.5(FBN1):c.457G>A (p.Gly153Ser)
|
rs995711019
|
|
NM_000138.5(FBN1):c.4581_4582del (p.Asp1528fs)
|
rs2141272855
|
|
NM_000138.5(FBN1):c.4582+11A>G
|
|
|
NM_000138.5(FBN1):c.4582+19_4582+21del
|
|
|
NM_000138.5(FBN1):c.4582+1G>A
|
rs1555397195
|
|
NM_000138.5(FBN1):c.4582+1G>T
|
rs1555397195
|
|
NM_000138.5(FBN1):c.4582+2T>G
|
rs1555397193
|
|
NM_000138.5(FBN1):c.4582+2dup
|
rs1555397194
|
|
NM_000138.5(FBN1):c.4582+3A>T
|
rs777845323
|
|
NM_000138.5(FBN1):c.4582+4del
|
rs2141272841
|
|
NM_000138.5(FBN1):c.4582+5G>C
|
rs140633
|
|
NM_000138.5(FBN1):c.4582+7C>T
|
rs768496209
|
|
NM_000138.5(FBN1):c.4582G>A (p.Asp1528Asn)
|
|
|
NM_000138.5(FBN1):c.4583-10T>A
|
rs1379865323
|
|
NM_000138.5(FBN1):c.4583-12T>C
|
rs1326100045
|
|
NM_000138.5(FBN1):c.4583-12T>G
|
|
|
NM_000138.5(FBN1):c.4583-18T>C
|
|
|
NM_000138.5(FBN1):c.4583-1G>A
|
rs1555397176
|
|
NM_000138.5(FBN1):c.4583-2A>G
|
|
|
NM_000138.5(FBN1):c.4583-5A>G
|
rs778966916
|
|
NM_000138.5(FBN1):c.4583-6A>T
|
|
|
NM_000138.5(FBN1):c.4583-8G>C
|
rs910464222
|
|
NM_000138.5(FBN1):c.4583-9G>A
|
rs2043338449
|
|
NM_000138.5(FBN1):c.4583-9G>C
|
rs2043338449
|
|
NM_000138.5(FBN1):c.4585A>G (p.Thr1529Ala)
|
|
|
NM_000138.5(FBN1):c.4585dup (p.Thr1529fs)
|
rs2141272535
|
|
NM_000138.5(FBN1):c.4587C>T (p.Thr1529=)
|
rs1366052911
|
|
NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys)
|
rs111401431
|
|
NM_000138.5(FBN1):c.4588del (p.Arg1530fs)
|
rs2043338241
|
|
NM_000138.5(FBN1):c.4589G>C (p.Arg1530Pro)
|
rs778710767
|
|
NM_000138.5(FBN1):c.4589G>T (p.Arg1530Leu)
|
|
|
NM_000138.5(FBN1):c.458G>C (p.Gly153Ala)
|
|
|
NM_000138.5(FBN1):c.458del (p.Gly153fs)
|
|
|
NM_000138.5(FBN1):c.4591del (p.Ser1531fs)
|
rs2141272501
|
|
NM_000138.5(FBN1):c.4593T>C (p.Ser1531=)
|
rs985992262
|
|
NM_000138.5(FBN1):c.459_460dup (p.Cys154fs)
|
rs2140711798
|
|
NM_000138.5(FBN1):c.4600T>C (p.Cys1534Arg)
|
rs2141272479
|
|
NM_000138.5(FBN1):c.4602C>G (p.Cys1534Trp)
|
rs1555397174
|
|
NM_000138.5(FBN1):c.4607T>G (p.Leu1536Trp)
|
rs2043337989
|
|
NM_000138.5(FBN1):c.4615C>T (p.Arg1539Ter)
|
rs111231312
|
|
NM_000138.5(FBN1):c.4619C>G (p.Pro1540Arg)
|
rs2043337860
|
|
NM_000138.5(FBN1):c.461G>A (p.Cys154Tyr)
|
|
|
NM_000138.5(FBN1):c.461G>C (p.Cys154Ser)
|
rs1057521103
|
|
NM_000138.5(FBN1):c.461G>T (p.Cys154Phe)
|
|
|
NM_000138.5(FBN1):c.4620T>G (p.Pro1540=)
|
|
|
NM_000138.5(FBN1):c.4621C>T (p.Arg1541Ter)
|
rs794728228
|
|
NM_000138.5(FBN1):c.4625_4626delinsATAATCTCCATTC (p.Gly1542fs)
|
rs2043337762
|
|
NM_000138.5(FBN1):c.4629del (p.Asp1543fs)
|
rs2043337738
|
|
NM_000138.5(FBN1):c.4635A>T (p.Gly1545=)
|
rs1555397167
|
|
NM_000138.5(FBN1):c.4639dup (p.Thr1547fs)
|
rs1597548734
|
|
NM_000138.5(FBN1):c.4649del (p.Ser1550fs)
|
rs1597548716
|
|
NM_000138.5(FBN1):c.4656A>G (p.Glu1552=)
|
rs768210642
|
|
NM_000138.5(FBN1):c.4657_4658del (p.Ile1553fs)
|
|
|
NM_000138.5(FBN1):c.465C>T (p.Leu155=)
|
|
|
NM_000138.5(FBN1):c.465del (p.Asn156fs)
|
rs2044515899
|
|
NM_000138.5(FBN1):c.4660G>T (p.Gly1554Ter)
|
rs2043337443
|
|
NM_000138.5(FBN1):c.4662A>C (p.Gly1554=)
|
|
|
NM_000138.5(FBN1):c.4663G>C (p.Val1555Leu)
|
rs760055928
|
|
NM_000138.5(FBN1):c.4664T>C (p.Val1555Ala)
|
|
|
NM_000138.5(FBN1):c.4665_4668del (p.Gly1556fs)
|
rs1555397160
|
|
NM_000138.5(FBN1):c.4671T>C (p.Val1557=)
|
rs978094803
|
|
NM_000138.5(FBN1):c.4678G>A (p.Ala1560Thr)
|
rs142858432
|
|
NM_000138.5(FBN1):c.4679C>T (p.Ala1560Val)
|
|
|
NM_000138.5(FBN1):c.4684T>A (p.Cys1562Ser)
|
rs193922207
|
|
NM_000138.5(FBN1):c.4685G>T (p.Cys1562Phe)
|
rs2141272349
|
|
NM_000138.5(FBN1):c.4687T>A (p.Cys1563Ser)
|
rs1597548672
|
|
NM_000138.5(FBN1):c.4688G>A (p.Cys1563Tyr)
|
rs1131691871
|
|
NM_000138.5(FBN1):c.4689C>G (p.Cys1563Trp)
|
rs2043337073
|
|
NM_000138.5(FBN1):c.4690_4691insTGTT (p.Cys1564fs)
|
rs2141272337
|
|
NM_000138.5(FBN1):c.4691G>A (p.Cys1564Tyr)
|
rs267606800
|
|
NM_000138.5(FBN1):c.4694C>T (p.Ser1565Phe)
|
rs1555397156
|
|
NM_000138.5(FBN1):c.4700del (p.Gly1567fs)
|
rs1566904526
|
|
NM_000138.5(FBN1):c.4704A>G (p.Lys1568=)
|
rs193922208
|
|
NM_000138.5(FBN1):c.4704_4707dup (p.Trp1570fs)
|
|
|
NM_000138.5(FBN1):c.4710G>A (p.Trp1570Ter)
|
rs267606799
|
|
NM_000138.5(FBN1):c.4714A>G (p.Thr1572Ala)
|
rs1597548645
|
|
NM_000138.5(FBN1):c.4723G>T (p.Glu1575Ter)
|
rs2141272276
|
|
NM_000138.5(FBN1):c.4729T>C (p.Cys1577Arg)
|
|
|
NM_000138.5(FBN1):c.4731T>A (p.Cys1577Ter)
|
rs2141272261
|
|
NM_000138.5(FBN1):c.4731T>C (p.Cys1577=)
|
|
|
NM_000138.5(FBN1):c.473del (p.Gly158fs)
|
rs2140711733
|
|
NM_000138.5(FBN1):c.4741_4747+7del
|
|
|
NM_000138.5(FBN1):c.4742A>G (p.Asn1581Ser)
|
|
|
NM_000138.5(FBN1):c.4744A>G (p.Thr1582Ala)
|
|
|
NM_000138.5(FBN1):c.4744A>T (p.Thr1582Ser)
|
|
|
NM_000138.5(FBN1):c.4745C>T (p.Thr1582Ile)
|
|
|
NM_000138.5(FBN1):c.4745del (p.Thr1582fs)
|
rs2043336561
|
|
NM_000138.5(FBN1):c.4747+15T>G
|
|
|
NM_000138.5(FBN1):c.4747+19A>G
|
rs2141272191
|
|
NM_000138.5(FBN1):c.4747+1G>A
|
rs2141272220
|
|
NM_000138.5(FBN1):c.4747+3A>T
|
rs1555397145
|
|
NM_000138.5(FBN1):c.4747+5G>A
|
rs193922209
|
|
NM_000138.5(FBN1):c.4747+5G>C
|
rs193922209
|
|
NM_000138.5(FBN1):c.4747+5G>T
|
rs193922209
|
|
NM_000138.5(FBN1):c.4747+8G>A
|
rs368739764
|
|
NM_000138.5(FBN1):c.4747+8G>C
|
|
|
NM_000138.5(FBN1):c.4748-10G>A
|
|
|
NM_000138.5(FBN1):c.4748-10G>C
|
|
|
NM_000138.5(FBN1):c.4748-11T>C
|
rs549918653
|
|
NM_000138.5(FBN1):c.4748-19T>A
|
|
|
NM_000138.5(FBN1):c.4748-1G>A
|
rs2141270027
|
|
NM_000138.5(FBN1):c.4748-2A>G
|
rs2141270032
|
|
NM_000138.5(FBN1):c.4748-2dup
|
rs2043316552
|
|
NM_000138.5(FBN1):c.4748-3T>C
|
rs770762644
|
|
NM_000138.5(FBN1):c.4748-3T>G
|
rs770762644
|
|
NM_000138.5(FBN1):c.4748-4A>G
|
|
|
NM_000138.5(FBN1):c.4748C>A (p.Ser1583Tyr)
|
|
|
NM_000138.5(FBN1):c.4749C>T (p.Ser1583=)
|
rs1275608178
|
|
NM_000138.5(FBN1):c.474_476del (p.Arg159del)
|
rs2140711718
|
|
NM_000138.5(FBN1):c.4764T>C (p.Leu1588=)
|
rs2043316351
|
|
NM_000138.5(FBN1):c.4766G>T (p.Cys1589Phe)
|
rs1555397024
|
|
NM_000138.5(FBN1):c.4767dup (p.Pro1590fs)
|
|
|
NM_000138.5(FBN1):c.4770_4771del (p.Gly1591fs)
|
rs1555397022
|
|
NM_000138.5(FBN1):c.4775G>A (p.Gly1592Glu)
|
rs1555397019
|
|
NM_000138.5(FBN1):c.4777del (p.Glu1593fs)
|
rs2141269976
|
|
NM_000138.5(FBN1):c.4778A>G (p.Glu1593Gly)
|
|
|
NM_000138.5(FBN1):c.477G>A (p.Arg159=)
|
rs1456579664
|
|
NM_000138.5(FBN1):c.4781G>A (p.Gly1594Asp)
|
rs267606798
|
|
NM_000138.5(FBN1):c.4781del (p.Gly1594fs)
|
rs1566904011
|
|
NM_000138.5(FBN1):c.4786C>T (p.Arg1596Ter)
|
rs113871094
|
|
NM_000138.5(FBN1):c.4787G>A (p.Arg1596Gln)
|
rs769588424
|
|
NM_000138.5(FBN1):c.4787G>C (p.Arg1596Pro)
|
rs769588424
|
|
NM_000138.5(FBN1):c.478T>C (p.Cys160Arg)
|
rs1057518973
|
|
NM_000138.5(FBN1):c.478T>G (p.Cys160Gly)
|
|
|
NM_000138.5(FBN1):c.4791A>C (p.Pro1597=)
|
rs2043316050
|
|
NM_000138.5(FBN1):c.4795C>A (p.Pro1599Thr)
|
rs1555397018
|
|
NM_000138.5(FBN1):c.4799T>G (p.Ile1600Ser)
|
|
|
NM_000138.5(FBN1):c.479G>A (p.Cys160Tyr)
|
rs1555404810
|
|
NM_000138.5(FBN1):c.479G>C (p.Cys160Ser)
|
|
|
NM_000138.5(FBN1):c.4802C>G (p.Thr1601Ser)
|
|
|
NM_000138.5(FBN1):c.4811T>A (p.Leu1604Ter)
|
|
|
NM_000138.5(FBN1):c.4813del (p.Glu1605fs)
|
rs1555397016
|
|
NM_000138.5(FBN1):c.4815A>G (p.Glu1605=)
|
rs869025408
|
|
NM_000138.5(FBN1):c.4815del (p.Asp1606fs)
|
rs2141269914
|
|
NM_000138.5(FBN1):c.4816+1G>C
|
rs1555397014
|
|
NM_000138.5(FBN1):c.4816+1G>T
|
rs1555397014
|
|
NM_000138.5(FBN1):c.4816+2T>C
|
rs1597547226
|
|
NM_000138.5(FBN1):c.4816+4A>G
|
rs2141269898
|
|
NM_000138.5(FBN1):c.4816+8_4816+9insTACCTTCCTT
|
rs878853684
|
|
NM_000138.5(FBN1):c.4816G>A (p.Asp1606Asn)
|
rs2043315819
|
|
NM_000138.5(FBN1):c.4817-14T>G
|
|
|
NM_000138.5(FBN1):c.4817-16G>T
|
|
|
NM_000138.5(FBN1):c.4817-1_4819del
|
rs2141269777
|
|
NM_000138.5(FBN1):c.4817-22_4817-14delinsAGCC
|
|
|
NM_000138.5(FBN1):c.4817-2A>G
|
rs1555397008
|
|
NM_000138.5(FBN1):c.4817-3_4818dup
|
rs2141269780
|
|
NM_000138.5(FBN1):c.4817-7T>C
|
|
|
NM_000138.5(FBN1):c.4817-8T>C
|
rs2043315040
|
|
NM_000138.5(FBN1):c.4825G>T (p.Glu1609Ter)
|
rs2141269766
|
|
NM_000138.5(FBN1):c.4827G>A (p.Glu1609=)
|
|
|
NM_000138.5(FBN1):c.4829_4838dup (p.Leu1616fs)
|
rs1597547075
|
|
NM_000138.5(FBN1):c.4847T>A (p.Leu1616Gln)
|
|
|
NM_000138.5(FBN1):c.4848G>C (p.Leu1616=)
|
|
|
NM_000138.5(FBN1):c.4852C>T (p.Gln1618Ter)
|
rs2141269730
|
|
NM_000138.5(FBN1):c.4857_4865del (p.Gly1620_Cys1622del)
|
rs2141269721
|
|
NM_000138.5(FBN1):c.4863A>G (p.Lys1621=)
|
rs2043314687
|
|
NM_000138.5(FBN1):c.4864T>C (p.Cys1622Arg)
|
|
|
NM_000138.5(FBN1):c.486C>G (p.Ala162=)
|
|
|
NM_000138.5(FBN1):c.486C>T (p.Ala162=)
|
rs2044515505
|
|
NM_000138.5(FBN1):c.4875del (p.Phe1626fs)
|
|
|
NM_000138.5(FBN1):c.4878del (p.Phe1626fs)
|
rs2043314537
|
|
NM_000138.5(FBN1):c.4881G>A (p.Gly1627=)
|
|
|
NM_000138.5(FBN1):c.4881del (p.Ser1628fs)
|
rs2043314519
|
|
NM_000138.5(FBN1):c.4886T>A (p.Phe1629Tyr)
|
|
|
NM_000138.5(FBN1):c.4888C>T (p.Gln1630Ter)
|
rs794728231
|
|
NM_000138.5(FBN1):c.488del (p.Pro163fs)
|
rs1555404806
|
|
NM_000138.5(FBN1):c.4891T>A (p.Cys1631Ser)
|
rs1555396998
|
|
NM_000138.5(FBN1):c.4893C>A (p.Cys1631Ter)
|
rs1597547030
|
|
NM_000138.5(FBN1):c.4896C>G (p.Arg1632=)
|
rs2141269637
|
|
NM_000138.5(FBN1):c.4897T>C (p.Cys1633Arg)
|
|
|
NM_000138.5(FBN1):c.4898G>A (p.Cys1633Tyr)
|
rs1555396993
|
|
NM_000138.5(FBN1):c.4905C>T (p.Thr1635=)
|
rs113115949
|
|
NM_000138.5(FBN1):c.4907del (p.Gly1636fs)
|
|
|
NM_000138.5(FBN1):c.4911C>A (p.Tyr1637Ter)
|
rs1566903921
|
|
NM_000138.5(FBN1):c.4914C>A (p.Tyr1638Ter)
|
rs1555396991
|
|
NM_000138.5(FBN1):c.4914C>T (p.Tyr1638=)
|
|
|
NM_000138.5(FBN1):c.4915C>G (p.Leu1639Val)
|
|
|
NM_000138.5(FBN1):c.4915del (p.Tyr1638_Leu1639insTer)
|
rs2141269593
|
|
NM_000138.5(FBN1):c.4917G>T (p.Leu1639=)
|
|
|
NM_000138.5(FBN1):c.491del (p.Asn164fs)
|
rs2044515447
|
|
NM_000138.5(FBN1):c.4926_4927del (p.Arg1644fs)
|
rs1555396990
|
|
NM_000138.5(FBN1):c.4930C>T (p.Arg1644Ter)
|
rs140630
|
|
NM_000138.5(FBN1):c.4932A>G (p.Arg1644=)
|
rs2043313777
|
|
NM_000138.5(FBN1):c.4935G>A (p.Val1645=)
|
rs886038897
|
|
NM_000138.5(FBN1):c.4936T>A (p.Cys1646Ser)
|
rs1064793115
|
|
NM_000138.5(FBN1):c.4937G>A (p.Cys1646Tyr)
|
rs397515814
|
|
NM_000138.5(FBN1):c.4937G>T (p.Cys1646Phe)
|
rs397515814
|
|
NM_000138.5(FBN1):c.493C>T (p.Arg165Ter)
|
rs113905529
|
|
NM_000138.5(FBN1):c.4940A>G (p.Asp1647Gly)
|
|
|
NM_000138.5(FBN1):c.4942+14G>A
|
|
|
NM_000138.5(FBN1):c.4942+15T>C
|
|
|
NM_000138.5(FBN1):c.4942+19A>C
|
|
|
NM_000138.5(FBN1):c.4942+19A>T
|
rs2141269507
|
|
NM_000138.5(FBN1):c.4942+1G>A
|
rs1566903907
|
|
NM_000138.5(FBN1):c.4942+20T>A
|
|
|
NM_000138.5(FBN1):c.4942+2T>C
|
rs2141269534
|
|
NM_000138.5(FBN1):c.4942+4A>G
|
rs397515815
|
|
NM_000138.5(FBN1):c.4942+8G>C
|
|
|
NM_000138.5(FBN1):c.4942+9T>G
|
|
|
NM_000138.5(FBN1):c.4942G>A (p.Asp1648Asn)
|
rs397515816
|
|
NM_000138.5(FBN1):c.4942G>C (p.Asp1648His)
|
rs397515816
|
|
NM_000138.5(FBN1):c.4943-13C>T
|
|
|
NM_000138.5(FBN1):c.4943-15C>A
|
|
|
NM_000138.5(FBN1):c.4943-1G>A
|
rs1555396863
|
|
NM_000138.5(FBN1):c.4943-1G>C
|
rs1555396863
|
|
NM_000138.5(FBN1):c.4943-25_4943-19del
|
|
|
NM_000138.5(FBN1):c.4943-4A>G
|
rs1555396865
|
|
NM_000138.5(FBN1):c.4943A>G (p.Asp1648Gly)
|
|
|
NM_000138.5(FBN1):c.494G>C (p.Arg165Pro)
|
rs1060501079
|
|
NM_000138.5(FBN1):c.4951G>A (p.Glu1651Lys)
|
rs886039152
|
|
NM_000138.5(FBN1):c.4955G>A (p.Cys1652Tyr)
|
rs397515817
|
|
NM_000138.5(FBN1):c.4955G>C (p.Cys1652Ser)
|
|
|
NM_000138.5(FBN1):c.4962T>C (p.Thr1654=)
|
|
|
NM_000138.5(FBN1):c.4962del (p.Pro1655fs)
|
|
|
NM_000138.5(FBN1):c.4965del (p.Gly1656fs)
|
rs1555396861
|
|
NM_000138.5(FBN1):c.496T>A (p.Cys166Ser)
|
rs363852
|
|
NM_000138.5(FBN1):c.496T>C (p.Cys166Arg)
|
rs363852
|
|
NM_000138.5(FBN1):c.4971_4972del (p.Ile1657fs)
|
rs2141267737
|
|
NM_000138.5(FBN1):c.4973G>A (p.Cys1658Tyr)
|
rs1555396859
|
|
NM_000138.5(FBN1):c.4974_4975del (p.Cys1658fs)
|
rs1555396858
|
|
NM_000138.5(FBN1):c.497G>A (p.Cys166Tyr)
|
rs397515818
|
|
NM_000138.5(FBN1):c.497G>C (p.Cys166Ser)
|
rs397515818
|
|
NM_000138.5(FBN1):c.4984A>T (p.Thr1662Ser)
|
rs1471557498
|
|
NM_000138.5(FBN1):c.4987T>C (p.Cys1663Arg)
|
rs137854459
|
|
NM_000138.5(FBN1):c.4988G>C (p.Cys1663Ser)
|
rs1555396853
|
|
NM_000138.5(FBN1):c.4988G>T (p.Cys1663Phe)
|
rs1555396853
|
|
NM_000138.5(FBN1):c.4989_4990insGGTCCAGGGTCCTGGAATCTGTGGTCCAGGT (p.Tyr1664fs)
|
|
|
NM_000138.5(FBN1):c.4994A>C (p.Asn1665Thr)
|
|
|
NM_000138.5(FBN1):c.4996_5007del (p.Thr1666_Asn1669del)
|
rs2141267678
|
|
NM_000138.5(FBN1):c.4998C>T (p.Thr1666=)
|
rs141925790
|
|
NM_000138.5(FBN1):c.5000T>C (p.Val1667Ala)
|
|
|
NM_000138.5(FBN1):c.5009_5020del (p.Tyr1670_Ile1673del)
|
|
|
NM_000138.5(FBN1):c.5011A>C (p.Thr1671Pro)
|
|
|
NM_000138.5(FBN1):c.5013C>T (p.Thr1671=)
|
|
|
NM_000138.5(FBN1):c.5013_5031del (p.Cys1672fs)
|
|
|
NM_000138.5(FBN1):c.5014T>G (p.Cys1672Gly)
|
rs112930491
|
|
NM_000138.5(FBN1):c.5015G>C (p.Cys1672Ser)
|
rs140627
|
|
NM_000138.5(FBN1):c.5015G>T (p.Cys1672Phe)
|
rs140627
|
|
NM_000138.5(FBN1):c.5016T>A (p.Cys1672Ter)
|
rs1555396848
|
|
NM_000138.5(FBN1):c.5016dup (p.Ile1673fs)
|
rs869025426
|
|
NM_000138.5(FBN1):c.5018T>C (p.Ile1673Thr)
|
rs2043300504
|
|
NM_000138.5(FBN1):c.5020T>C (p.Cys1674Arg)
|
rs1555396844
|
|
NM_000138.5(FBN1):c.5021G>A (p.Cys1674Tyr)
|
rs794728233
|
|
NM_000138.5(FBN1):c.5021_5022del (p.Cys1674fs)
|
|
|
NM_000138.5(FBN1):c.502T>A (p.Cys168Ser)
|
rs2044515247
|
|
NM_000138.5(FBN1):c.502T>C (p.Cys168Arg)
|
rs2044515247
|
|
NM_000138.5(FBN1):c.502T>G (p.Cys168Gly)
|
rs2044515247
|
|
NM_000138.5(FBN1):c.5030A>G (p.Asp1677Gly)
|
|
|
NM_000138.5(FBN1):c.5031C>T (p.Asp1677=)
|
rs1597545860
|
|
NM_000138.5(FBN1):c.5035A>C (p.Met1679Leu)
|
|
|
NM_000138.5(FBN1):c.5035A>G (p.Met1679Val)
|
rs759114752
|
|
NM_000138.5(FBN1):c.5038C>T (p.Gln1680Ter)
|
rs878853685
|
|
NM_000138.5(FBN1):c.503G>A (p.Cys168Tyr)
|
rs1555404803
|
|
NM_000138.5(FBN1):c.503G>T (p.Cys168Phe)
|
rs1555404803
|
|
NM_000138.5(FBN1):c.5041G>A (p.Val1681Met)
|
|
|
NM_000138.5(FBN1):c.5042T>C (p.Val1681Ala)
|
|
|
NM_000138.5(FBN1):c.504C>G (p.Cys168Trp)
|
rs200295020
|
|
NM_000138.5(FBN1):c.5051G>A (p.Gly1684Glu)
|
|
|
NM_000138.5(FBN1):c.5054del (p.Asn1685fs)
|
|
|
NM_000138.5(FBN1):c.5057del (p.Asn1686fs)
|
rs1597545836
|
|
NM_000138.5(FBN1):c.5060G>A (p.Cys1687Tyr)
|
|
|
NM_000138.5(FBN1):c.5060G>T (p.Cys1687Phe)
|
|
|
NM_000138.5(FBN1):c.5061C>A (p.Cys1687Ter)
|
rs1555396838
|
|
NM_000138.5(FBN1):c.5062del (p.Met1688fs)
|
rs1555396837
|
|
NM_000138.5(FBN1):c.5065+1G>A
|
rs1296209846
|
|
NM_000138.5(FBN1):c.5065+1G>C
|
rs1296209846
|
|
NM_000138.5(FBN1):c.5065+1G>T
|
rs1296209846
|
|
NM_000138.5(FBN1):c.5065+2dup
|
rs1555396835
|
|
NM_000138.5(FBN1):c.5066-12C>A
|
rs531105331
|
|
NM_000138.5(FBN1):c.5066-12C>T
|
rs531105331
|
|
NM_000138.5(FBN1):c.5066-14del
|
rs3833018
|
|
NM_000138.5(FBN1):c.5066-14dup
|
rs3833018
|
|
NM_000138.5(FBN1):c.5066-15_5066-14del
|
rs3833018
|
|
NM_000138.5(FBN1):c.5066-15_5066-14dup
|
rs3833018
|
|
NM_000138.5(FBN1):c.5066-19T>C
|
|
|
NM_000138.5(FBN1):c.5066-1G>A
|
rs397515819
|
|
NM_000138.5(FBN1):c.5066-1G>C
|
rs397515819
|
|
NM_000138.5(FBN1):c.5066-1G>T
|
rs397515819
|
|
NM_000138.5(FBN1):c.5066-3T>C
|
rs2141266776
|
|
NM_000138.5(FBN1):c.5066-5dup
|
|
|
NM_000138.5(FBN1):c.5066-9_5086dup
|
rs1566903283
|
|
NM_000138.5(FBN1):c.5066del (p.Asp1689fs)
|
rs727504347
|
|
NM_000138.5(FBN1):c.5073AAG[1] (p.Arg1692del)
|
rs1555396789
|
|
NM_000138.5(FBN1):c.5076A>G (p.Arg1692=)
|
rs2141266766
|
|
NM_000138.5(FBN1):c.5083T>G (p.Cys1695Gly)
|
rs1597545345
|
|
NM_000138.5(FBN1):c.5084G>A (p.Cys1695Tyr)
|
|
|
NM_000138.5(FBN1):c.5087A>G (p.Tyr1696Cys)
|
rs387906625
|
|
NM_000138.5(FBN1):c.5093A>G (p.Asn1698Ser)
|
rs2043293815
|
|
NM_000138.5(FBN1):c.5093del (p.Asn1698fs)
|
rs1597545309
|
|
NM_000138.5(FBN1):c.5094del (p.Tyr1699fs)
|
rs1060501031
|
|
NM_000138.5(FBN1):c.5095T>A (p.Tyr1699Asn)
|
rs2043293738
|
|
NM_000138.5(FBN1):c.5096A>G (p.Tyr1699Cys)
|
rs387906622
|
|
NM_000138.5(FBN1):c.5097C>G (p.Tyr1699Ter)
|
rs368979510
|
|
NM_000138.5(FBN1):c.5099A>G (p.Tyr1700Cys)
|
rs387906626
|
|
NM_000138.5(FBN1):c.509dup (p.Tyr170Ter)
|
|
|
NM_000138.5(FBN1):c.5100T>C (p.Tyr1700=)
|
|
|
NM_000138.5(FBN1):c.5101_5102delinsTT (p.Ala1701Phe)
|
|
|
NM_000138.5(FBN1):c.5102C>T (p.Ala1701Val)
|
|
|
NM_000138.5(FBN1):c.5109C>T (p.Asn1703=)
|
rs1235270306
|
|
NM_000138.5(FBN1):c.510C>G (p.Tyr170Ter)
|
rs111671429
|
|
NM_000138.5(FBN1):c.510del (p.Thr169_Tyr170insTer)
|
rs1597623670
|
|
NM_000138.5(FBN1):c.5111del (p.Gln1704fs)
|
rs2141266677
|
|
NM_000138.5(FBN1):c.5117G>A (p.Cys1706Tyr)
|
|
|
NM_000138.5(FBN1):c.511G>A (p.Gly171Arg)
|
rs1566934693
|
|
NM_000138.5(FBN1):c.511G>T (p.Gly171Ter)
|
rs1566934693
|
|
NM_000138.5(FBN1):c.5121T>C (p.Asp1707=)
|
rs1031351464
|
|
NM_000138.5(FBN1):c.5125G>T (p.Glu1709Ter)
|
rs1597545257
|
|
NM_000138.5(FBN1):c.5129T>C (p.Leu1710Ser)
|
|
|
NM_000138.5(FBN1):c.5144C>T (p.Thr1715Ile)
|
|
|
NM_000138.5(FBN1):c.5147AGA[1] (p.Lys1717del)
|
rs2043292746
|
|
NM_000138.5(FBN1):c.5156G>A (p.Cys1719Tyr)
|
rs1555396769
|
|
NM_000138.5(FBN1):c.5157C>A (p.Cys1719Ter)
|
rs2043292643
|
|
NM_000138.5(FBN1):c.5158T>C (p.Cys1720Arg)
|
rs1597545230
|
|
NM_000138.5(FBN1):c.5159G>A (p.Cys1720Tyr)
|
|
|
NM_000138.5(FBN1):c.5160C>G (p.Cys1720Trp)
|
|
|
NM_000138.5(FBN1):c.5162G>A (p.Cys1721Tyr)
|
rs2043292594
|
|
NM_000138.5(FBN1):c.5174T>A (p.Ile1725Asn)
|
rs2141266590
|
|
NM_000138.5(FBN1):c.5178C>T (p.Gly1726=)
|
rs1303761807
|
|
NM_000138.5(FBN1):c.5179C>T (p.Arg1727Trp)
|
|
|
NM_000138.5(FBN1):c.5179del (p.Arg1727fs)
|
rs1555396765
|
|
NM_000138.5(FBN1):c.5181G>C (p.Arg1727=)
|
rs1288751290
|
|
NM_000138.5(FBN1):c.5182G>C (p.Ala1728Pro)
|
rs387906624
|
|
NM_000138.5(FBN1):c.5182_5183delinsTA (p.Ala1728Ter)
|
|
|
NM_000138.5(FBN1):c.5183C>T (p.Ala1728Val)
|
rs1131691804
|
|
NM_000138.5(FBN1):c.5187G>A (p.Trp1729Ter)
|
rs1597545199
|
|
NM_000138.5(FBN1):c.5189del (p.Asn1730fs)
|
rs2043292163
|
|
NM_000138.5(FBN1):c.5190del (p.Asn1730fs)
|
rs2043292112
|
|
NM_000138.5(FBN1):c.5196del (p.Cys1733fs)
|
rs2043292041
|
|
NM_000138.5(FBN1):c.5200G>A (p.Glu1734Lys)
|
|
|
NM_000138.5(FBN1):c.5203dup (p.Gln1735fs)
|
rs1555396760
|
|
NM_000138.5(FBN1):c.5207G>A (p.Cys1736Tyr)
|
rs1060501070
|
|
NM_000138.5(FBN1):c.5208T>A (p.Cys1736Ter)
|
rs794728234
|
|
NM_000138.5(FBN1):c.520G>A (p.Gly174Arg)
|
|
|
NM_000138.5(FBN1):c.5210C>T (p.Pro1737Leu)
|
rs2141266510
|
|
NM_000138.5(FBN1):c.5213_5217del (p.Ile1738fs)
|
rs1555396757
|
|
NM_000138.5(FBN1):c.5214C>T (p.Ile1738=)
|
|
|
NM_000138.5(FBN1):c.5224+11G>A
|
rs776454928
|
|
NM_000138.5(FBN1):c.5225-10A>T
|
|
|
NM_000138.5(FBN1):c.5225-2A>C
|
rs1555396639
|
|
NM_000138.5(FBN1):c.5225-2A>G
|
|
|
NM_000138.5(FBN1):c.5225-3C>A
|
rs876657810
|
|
NM_000138.5(FBN1):c.5232T>C (p.Phe1744=)
|
|
|
NM_000138.5(FBN1):c.5234C>T (p.Ala1745Val)
|
rs2043271430
|
|
NM_000138.5(FBN1):c.5242T>C (p.Cys1748Arg)
|
|
|
NM_000138.5(FBN1):c.5244T>G (p.Cys1748Trp)
|
|
|
NM_000138.5(FBN1):c.5244_5245del (p.Cys1748fs)
|
rs1555396636
|
|
NM_000138.5(FBN1):c.5244_5247dup (p.Ser1750fs)
|
rs1597543486
|
|
NM_000138.5(FBN1):c.524C>G (p.Pro175Arg)
|
|
|
NM_000138.5(FBN1):c.5251C>T (p.Gln1751Ter)
|
rs397515820
|
|
NM_000138.5(FBN1):c.5258_5260dup (p.Pro1753_Gly1754insAla)
|
|
|
NM_000138.5(FBN1):c.5259A>G (p.Pro1753=)
|
|
|
NM_000138.5(FBN1):c.5261G>A (p.Gly1754Asp)
|
|
|
NM_000138.5(FBN1):c.5261G>T (p.Gly1754Val)
|
|
|
NM_000138.5(FBN1):c.5267T>C (p.Val1756Ala)
|
|
|
NM_000138.5(FBN1):c.5270T>C (p.Ile1757Thr)
|
rs2141264003
|
|
NM_000138.5(FBN1):c.5271C>A (p.Ile1757=)
|
|
|
NM_000138.5(FBN1):c.5271C>T (p.Ile1757=)
|
rs1291913287
|
|
NM_000138.5(FBN1):c.5272G>A (p.Asp1758Asn)
|
|
|
NM_000138.5(FBN1):c.5274C>T (p.Asp1758=)
|
rs1566902542
|
|
NM_000138.5(FBN1):c.5277T>G (p.Ile1759Met)
|
|
|
NM_000138.5(FBN1):c.5279A>G (p.Tyr1760Cys)
|
rs1597543452
|
|
NM_000138.5(FBN1):c.5280T>A (p.Tyr1760Ter)
|
rs730880103
|
|
NM_000138.5(FBN1):c.5283C>G (p.Thr1761=)
|
|
|
NM_000138.5(FBN1):c.5284G>A (p.Gly1762Ser)
|
rs387906623
|
|
NM_000138.5(FBN1):c.5290C>T (p.Pro1764Ser)
|
|
|
NM_000138.5(FBN1):c.5291C>A (p.Pro1764His)
|
rs2043270903
|
|
NM_000138.5(FBN1):c.5293G>T (p.Val1765Phe)
|
|
|
NM_000138.5(FBN1):c.5296+10G>A
|
|
|
NM_000138.5(FBN1):c.5296+12C>G
|
rs566030960
|
|
NM_000138.5(FBN1):c.5296+1G>A
|
|
|
NM_000138.5(FBN1):c.5296+1G>C
|
rs1555396630
|
|
NM_000138.5(FBN1):c.5296+2T>G
|
|
|
NM_000138.5(FBN1):c.5296+3G>C
|
|
|
NM_000138.5(FBN1):c.5296+3G>T
|
rs2043270772
|
|
NM_000138.5(FBN1):c.5296+5G>A
|
rs1566902515
|
|
NM_000138.5(FBN1):c.5296+5G>C
|
rs1566902515
|
|
NM_000138.5(FBN1):c.5296+6T>C
|
rs1555396629
|
|
NM_000138.5(FBN1):c.5296+7C>T
|
|
|
NM_000138.5(FBN1):c.5296+8A>C
|
|
|
NM_000138.5(FBN1):c.5296G>C (p.Asp1766His)
|
rs1555396631
|
|
NM_000138.5(FBN1):c.5297-10C>T
|
|
|
NM_000138.5(FBN1):c.5297-15C>T
|
|
|
NM_000138.5(FBN1):c.5297-1G>A
|
rs1555396435
|
|
NM_000138.5(FBN1):c.529T>C (p.Cys177Arg)
|
rs363853
|
|
NM_000138.5(FBN1):c.5300T>C (p.Ile1767Thr)
|
|
|
NM_000138.5(FBN1):c.5305G>A (p.Glu1769Lys)
|
rs2141260472
|
|
NM_000138.5(FBN1):c.5307G>A (p.Glu1769=)
|
|
|
NM_000138.5(FBN1):c.5309G>A (p.Cys1770Tyr)
|
rs2043241537
|
|
NM_000138.5(FBN1):c.530G>A (p.Cys177Tyr)
|
rs113695103
|
|
NM_000138.5(FBN1):c.5311dup (p.Arg1771fs)
|
rs1597540923
|
|
NM_000138.5(FBN1):c.531dup (p.Glu178Ter)
|
rs1555404800
|
|
NM_000138.5(FBN1):c.5329T>C (p.Cys1777Arg)
|
rs1597540907
|
|
NM_000138.5(FBN1):c.5330G>A (p.Cys1777Tyr)
|
rs1060501069
|
|
NM_000138.5(FBN1):c.5338G>A (p.Gly1780Arg)
|
|
|
NM_000138.5(FBN1):c.5339G>A (p.Gly1780Glu)
|
|
|
NM_000138.5(FBN1):c.5339G>T (p.Gly1780Val)
|
rs2141260428
|
|
NM_000138.5(FBN1):c.5343G>C (p.Val1781=)
|
|
|
NM_000138.5(FBN1):c.5345G>A (p.Cys1782Tyr)
|
rs1555396429
|
|
NM_000138.5(FBN1):c.5358T>C (p.Val1786=)
|
rs1057521207
|
|
NM_000138.5(FBN1):c.5359G>T (p.Gly1787Cys)
|
|
|
NM_000138.5(FBN1):c.5360G>A (p.Gly1787Asp)
|
rs2141260386
|
|
NM_000138.5(FBN1):c.5363G>A (p.Ser1788Asn)
|
rs1303042338
|
|
NM_000138.5(FBN1):c.5365T>A (p.Phe1789Ile)
|
|
|
NM_000138.5(FBN1):c.5367C>T (p.Phe1789=)
|
|
|
NM_000138.5(FBN1):c.5368C>T (p.Arg1790Ter)
|
rs113249837
|
|
NM_000138.5(FBN1):c.5369G>A (p.Arg1790Gln)
|
rs1555396428
|
|
NM_000138.5(FBN1):c.5369G>C (p.Arg1790Pro)
|
rs1555396428
|
|
NM_000138.5(FBN1):c.5371T>C (p.Cys1791Arg)
|
rs1555396427
|
|
NM_000138.5(FBN1):c.5371T>G (p.Cys1791Gly)
|
rs1555396427
|
|
NM_000138.5(FBN1):c.5372G>A (p.Cys1791Tyr)
|
rs886038848
|
|
NM_000138.5(FBN1):c.5373T>G (p.Cys1791Trp)
|
rs1555396426
|
|
NM_000138.5(FBN1):c.5377T>A (p.Cys1793Ser)
|
rs1555396424
|
|
NM_000138.5(FBN1):c.5377T>C (p.Cys1793Arg)
|
rs1555396424
|
|
NM_000138.5(FBN1):c.5378G>A (p.Cys1793Tyr)
|
rs1597540854
|
|
NM_000138.5(FBN1):c.538+12T>A
|
|
|
NM_000138.5(FBN1):c.538+12del
|
rs755209856
|
|
NM_000138.5(FBN1):c.538+2T>C
|
rs1555404799
|
|
NM_000138.5(FBN1):c.5387del (p.Gly1796fs)
|
rs2043240342
|
|
NM_000138.5(FBN1):c.539-2A>G
|
rs2141358521
|
|
NM_000138.5(FBN1):c.5391C>T (p.Phe1797=)
|
rs775373513
|
|
NM_000138.5(FBN1):c.5396dup (p.Tyr1799Ter)
|
|
|
NM_000138.5(FBN1):c.5403C>T (p.Asp1801=)
|
|
|
NM_000138.5(FBN1):c.5405A>G (p.Lys1802Arg)
|
rs886051248
|
|
NM_000138.5(FBN1):c.5409G>A (p.Leu1803=)
|
rs906226501
|
|
NM_000138.5(FBN1):c.5416T>C (p.Cys1806Arg)
|
rs1555396419
|
|
NM_000138.5(FBN1):c.5416T>G (p.Cys1806Gly)
|
rs1555396419
|
|
NM_000138.5(FBN1):c.5416del (p.Cys1806fs)
|
rs1057518912
|
|
NM_000138.5(FBN1):c.5417G>T (p.Cys1806Phe)
|
rs1555396418
|
|
NM_000138.5(FBN1):c.5418T>G (p.Cys1806Trp)
|
rs2043239853
|
|
NM_000138.5(FBN1):c.5422+13A>T
|
|
|
NM_000138.5(FBN1):c.5422+1G>A
|
rs1064793116
|
|
NM_000138.5(FBN1):c.5422+1del
|
rs2141260277
|
|
NM_000138.5(FBN1):c.5422+2T>C
|
rs1555396417
|
|
NM_000138.5(FBN1):c.5422_5422+1delinsTT
|
rs1566901570
|
|
NM_000138.5(FBN1):c.5423-16T>C
|
|
|
NM_000138.5(FBN1):c.5423-17T>G
|
|
|
NM_000138.5(FBN1):c.5423-18G>T
|
|
|
NM_000138.5(FBN1):c.5423-19A>G
|
|
|
NM_000138.5(FBN1):c.5423-1G>C
|
|
|
NM_000138.5(FBN1):c.5423-30_5423-28del
|
rs56354352
|
|
NM_000138.5(FBN1):c.5423A>G (p.Asp1808Gly)
|
rs2141256144
|
|
NM_000138.5(FBN1):c.5425A>G (p.Ile1809Val)
|
|
|
NM_000138.5(FBN1):c.5427T>C (p.Ile1809=)
|
rs2141256134
|
|
NM_000138.5(FBN1):c.5428G>T (p.Asp1810Tyr)
|
rs2043210566
|
|
NM_000138.5(FBN1):c.5429A>T (p.Asp1810Val)
|
rs2043210544
|
|
NM_000138.5(FBN1):c.5431G>A (p.Glu1811Lys)
|
rs761857514
|
|
NM_000138.5(FBN1):c.5431G>T (p.Glu1811Ter)
|
rs761857514
|
|
NM_000138.5(FBN1):c.5432A>G (p.Glu1811Gly)
|
rs2141256116
|
|
NM_000138.5(FBN1):c.5434T>A (p.Cys1812Ser)
|
|
|
NM_000138.5(FBN1):c.5434T>C (p.Cys1812Arg)
|
rs1597537935
|
|
NM_000138.5(FBN1):c.5435G>A (p.Cys1812Tyr)
|
rs1555396213
|
|
NM_000138.5(FBN1):c.5435_5436del (p.Cys1812fs)
|
|
|
NM_000138.5(FBN1):c.5437C>T (p.Gln1813Ter)
|
rs397515821
|
|
NM_000138.5(FBN1):c.5439G>C (p.Gln1813His)
|
|
|
NM_000138.5(FBN1):c.543C>G (p.Tyr181Ter)
|
rs1597593852
|
|
NM_000138.5(FBN1):c.5444del (p.Gly1815fs)
|
rs2141256088
|
|
NM_000138.5(FBN1):c.5447del (p.Pro1816fs)
|
|
|
NM_000138.5(FBN1):c.5448A>G (p.Pro1816=)
|
rs2043210295
|
|
NM_000138.5(FBN1):c.5452T>G (p.Cys1818Gly)
|
|
|
NM_000138.5(FBN1):c.5453G>A (p.Cys1818Tyr)
|
rs2141256069
|
|
NM_000138.5(FBN1):c.5458C>A (p.Arg1820Ser)
|
|
|
NM_000138.5(FBN1):c.5459_5465del (p.Arg1820fs)
|
|
|
NM_000138.5(FBN1):c.5467_5474dup (p.Ile1825fs)
|
rs2141256027
|
|
NM_000138.5(FBN1):c.5470T>C (p.Cys1824Arg)
|
rs1131691478
|
|
NM_000138.5(FBN1):c.5470_5483dup (p.Gly1829fs)
|
rs1555396202
|
|
NM_000138.5(FBN1):c.5471G>T (p.Cys1824Phe)
|
rs1597537858
|
|
NM_000138.5(FBN1):c.5473A>G (p.Ile1825Val)
|
rs2141256032
|
|
NM_000138.5(FBN1):c.5477A>G (p.Asn1826Ser)
|
rs2043210015
|
|
NM_000138.5(FBN1):c.5478C>T (p.Asn1826=)
|
rs1213848361
|
|
NM_000138.5(FBN1):c.5482G>A (p.Ala1828Thr)
|
rs1566900504
|
|
NM_000138.5(FBN1):c.5485G>C (p.Gly1829Arg)
|
rs1597537835
|
|
NM_000138.5(FBN1):c.5485G>T (p.Gly1829Cys)
|
|
|
NM_000138.5(FBN1):c.5486dup (p.Ser1830fs)
|
|
|
NM_000138.5(FBN1):c.5493C>A (p.Tyr1831Ter)
|
rs1555396201
|
|
NM_000138.5(FBN1):c.5493C>G (p.Tyr1831Ter)
|
rs1555396201
|
|
NM_000138.5(FBN1):c.5494C>T (p.Arg1832Cys)
|
|
|
NM_000138.5(FBN1):c.5495G>T (p.Arg1832Leu)
|
|
|
NM_000138.5(FBN1):c.5498G>A (p.Cys1833Tyr)
|
rs1597537815
|
|
NM_000138.5(FBN1):c.5499dup (p.Asp1834Ter)
|
rs1555396199
|
|
NM_000138.5(FBN1):c.5503T>A (p.Cys1835Ser)
|
rs1555396198
|
|
NM_000138.5(FBN1):c.5503T>C (p.Cys1835Arg)
|
rs1555396198
|
|
NM_000138.5(FBN1):c.5503_5517del (p.Cys1835_Tyr1839del)
|
rs2141255919
|
|
NM_000138.5(FBN1):c.5504G>A (p.Cys1835Tyr)
|
rs111929350
|
|
NM_000138.5(FBN1):c.5504G>C (p.Cys1835Ser)
|
rs111929350
|
|
NM_000138.5(FBN1):c.5504G>T (p.Cys1835Phe)
|
rs111929350
|
|
NM_000138.5(FBN1):c.5512G>C (p.Gly1838Arg)
|
rs397515823
|
|
NM_000138.5(FBN1):c.5512G>T (p.Gly1838Cys)
|
rs397515823
|
|
NM_000138.5(FBN1):c.5513G>A (p.Gly1838Asp)
|
rs78970689
|
|
NM_000138.5(FBN1):c.5513del (p.Gly1838fs)
|
rs2141255941
|
|
NM_000138.5(FBN1):c.5516A>C (p.Tyr1839Ser)
|
|
|
NM_000138.5(FBN1):c.5516A>G (p.Tyr1839Cys)
|
rs758725993
|
|
NM_000138.5(FBN1):c.551del (p.Gly184fs)
|
|
|
NM_000138.5(FBN1):c.5520del (p.Phe1841fs)
|
rs1555396188
|
|
NM_000138.5(FBN1):c.5525C>T (p.Thr1842Ile)
|
rs1566900477
|
|
NM_000138.5(FBN1):c.5532A>G (p.Thr1844=)
|
|
|
NM_000138.5(FBN1):c.5533G>T (p.Gly1845Ter)
|
|
|
NM_000138.5(FBN1):c.5534del (p.Gly1845fs)
|
rs2141255875
|
|
NM_000138.5(FBN1):c.5536C>T (p.Gln1846Ter)
|
rs1566900473
|
|
NM_000138.5(FBN1):c.5539T>C (p.Cys1847Arg)
|
rs1555396186
|
|
NM_000138.5(FBN1):c.5540G>A (p.Cys1847Tyr)
|
rs1555396185
|
|
NM_000138.5(FBN1):c.5545+12C>T
|
rs193922213
|
|
NM_000138.5(FBN1):c.5545+14del
|
rs748182794
|
|
NM_000138.5(FBN1):c.5545+15A>G
|
|
|
NM_000138.5(FBN1):c.5545+19G>C
|
|
|
NM_000138.5(FBN1):c.5545+1G>A
|
rs1260109901
|
|
NM_000138.5(FBN1):c.5545+1del
|
rs1566900469
|
|
NM_000138.5(FBN1):c.5545+2T>C
|
rs2043209059
|
|
NM_000138.5(FBN1):c.5545+3A>G
|
|
|
NM_000138.5(FBN1):c.5546-11C>G
|
|
|
NM_000138.5(FBN1):c.5546-15G>A
|
|
|
NM_000138.5(FBN1):c.5546-1G>A
|
rs1566899590
|
|
NM_000138.5(FBN1):c.5546-3C>G
|
|
|
NM_000138.5(FBN1):c.5546-8A>T
|
|
|
NM_000138.5(FBN1):c.554C>T (p.Pro185Leu)
|
|
|
NM_000138.5(FBN1):c.554_556del (p.Pro185_Cys186delinsArg)
|
rs1555401701
|
|
NM_000138.5(FBN1):c.5552A>G (p.Asn1851Ser)
|
rs193922214
|
|
NM_000138.5(FBN1):c.5555A>C (p.Glu1852Ala)
|
|
|
NM_000138.5(FBN1):c.5555A>G (p.Glu1852Gly)
|
rs864622676
|
|
NM_000138.5(FBN1):c.5557T>A (p.Cys1853Ser)
|
rs1555395990
|
|
NM_000138.5(FBN1):c.5557T>C (p.Cys1853Arg)
|
rs1555395990
|
|
NM_000138.5(FBN1):c.5558G>A (p.Cys1853Tyr)
|
rs1555395989
|
|
NM_000138.5(FBN1):c.5558G>C (p.Cys1853Ser)
|
rs1555395989
|
|
NM_000138.5(FBN1):c.5559T>G (p.Cys1853Trp)
|
|
|
NM_000138.5(FBN1):c.5560C>T (p.Gln1854Ter)
|
rs2141252259
|
|
NM_000138.5(FBN1):c.5563G>T (p.Glu1855Ter)
|
|
|
NM_000138.5(FBN1):c.5566A>G (p.Ile1856Val)
|
rs2141252254
|
|
NM_000138.5(FBN1):c.5569C>T (p.Pro1857Ser)
|
rs2043179615
|
|
NM_000138.5(FBN1):c.5571del (p.Asn1858fs)
|
rs1597535305
|
|
NM_000138.5(FBN1):c.5573A>C (p.Asn1858Thr)
|
rs751472490
|
|
NM_000138.5(FBN1):c.5575A>G (p.Ile1859Val)
|
|
|
NM_000138.5(FBN1):c.5576T>C (p.Ile1859Thr)
|
|
|
NM_000138.5(FBN1):c.5577dup (p.Cys1860fs)
|
|
|
NM_000138.5(FBN1):c.5578T>C (p.Cys1860Arg)
|
|
|
NM_000138.5(FBN1):c.5579G>A (p.Cys1860Tyr)
|
rs1597535300
|
|
NM_000138.5(FBN1):c.5581A>C (p.Ser1861Arg)
|
rs2141252219
|
|
NM_000138.5(FBN1):c.5586T>C (p.His1862=)
|
|
|
NM_000138.5(FBN1):c.5587G>A (p.Gly1863Arg)
|
rs1555395987
|
|
NM_000138.5(FBN1):c.5588G>A (p.Gly1863Glu)
|
rs113086760
|
|
NM_000138.5(FBN1):c.5590C>T (p.Gln1864Ter)
|
rs1555395985
|
|
NM_000138.5(FBN1):c.5593T>C (p.Cys1865Arg)
|
rs1555395984
|
|
NM_000138.5(FBN1):c.5597T>C (p.Ile1866Thr)
|
rs773133679
|
|
NM_000138.5(FBN1):c.5603C>G (p.Thr1868Arg)
|
rs145082616
|
|
NM_000138.5(FBN1):c.5604A>G (p.Thr1868=)
|
|
|
NM_000138.5(FBN1):c.5607T>C (p.Val1869=)
|
rs1597535252
|
|
NM_000138.5(FBN1):c.5607dup (p.Gly1870fs)
|
|
|
NM_000138.5(FBN1):c.560T>A (p.Phe187Tyr)
|
|
|
NM_000138.5(FBN1):c.5612_5613del (p.Ser1871fs)
|
rs1555395981
|
|
NM_000138.5(FBN1):c.5613C>A (p.Ser1871Arg)
|
rs776310363
|
|
NM_000138.5(FBN1):c.5613del (p.Tyr1873fs)
|
rs1566899541
|
|
NM_000138.5(FBN1):c.5619T>C (p.Tyr1873=)
|
|
|
NM_000138.5(FBN1):c.561del (p.Phe187fs)
|
rs397515825
|
|
NM_000138.5(FBN1):c.5621G>T (p.Cys1874Phe)
|
rs2141252159
|
|
NM_000138.5(FBN1):c.5626T>C (p.Cys1876Arg)
|
rs1555395980
|
|
NM_000138.5(FBN1):c.5627G>A (p.Cys1876Tyr)
|
rs112728248
|
|
NM_000138.5(FBN1):c.5627G>C (p.Cys1876Ser)
|
rs112728248
|
|
NM_000138.5(FBN1):c.5628C>G (p.Cys1876Trp)
|
rs2141252143
|
|
NM_000138.5(FBN1):c.5635_5636del (p.Gly1879fs)
|
rs1555395978
|
|
NM_000138.5(FBN1):c.5636G>A (p.Gly1879Asp)
|
rs2043178850
|
|
NM_000138.5(FBN1):c.5637T>G (p.Gly1879=)
|
|
|
NM_000138.5(FBN1):c.5638T>G (p.Phe1880Val)
|
rs1555395977
|
|
NM_000138.5(FBN1):c.5639T>C (p.Phe1880Ser)
|
rs1597535186
|
|
NM_000138.5(FBN1):c.5651A>T (p.Asp1884Val)
|
|
|
NM_000138.5(FBN1):c.5655C>G (p.Asp1885Glu)
|
|
|
NM_000138.5(FBN1):c.5656C>T (p.Gln1886Ter)
|
|
|
NM_000138.5(FBN1):c.565G>T (p.Val189Leu)
|
rs2044026712
|
|
NM_000138.5(FBN1):c.565del (p.Thr188_Val189insTer)
|
rs2141358467
|
|
NM_000138.5(FBN1):c.5664G>A (p.Met1888Ile)
|
rs1060501056
|
|
NM_000138.5(FBN1):c.5666G>A (p.Cys1889Tyr)
|
rs1566899500
|
|
NM_000138.5(FBN1):c.5666G>T (p.Cys1889Phe)
|
rs1566899500
|
|
NM_000138.5(FBN1):c.5667C>G (p.Cys1889Trp)
|
|
|
NM_000138.5(FBN1):c.5671+1G>A
|
rs112104270
|
|
NM_000138.5(FBN1):c.5671+1G>T
|
rs112104270
|
|
NM_000138.5(FBN1):c.5671+2T>C
|
|
|
NM_000138.5(FBN1):c.5671G>A (p.Asp1891Asn)
|
rs193922216
|
|
NM_000138.5(FBN1):c.5671G>C (p.Asp1891His)
|
rs193922216
|
|
NM_000138.5(FBN1):c.5671G>T (p.Asp1891Tyr)
|
|
|
NM_000138.5(FBN1):c.5672-14T>C
|
|
|
NM_000138.5(FBN1):c.5672-1G>A
|
rs1555395849
|
|
NM_000138.5(FBN1):c.5672-2A>G
|
rs1060501053
|
|
NM_000138.5(FBN1):c.5672-2A>T
|
|
|
NM_000138.5(FBN1):c.5672-3T>C
|
rs193922217
|
|
NM_000138.5(FBN1):c.5672-4C>G
|
|
|
NM_000138.5(FBN1):c.5672-5A>G
|
|
|
NM_000138.5(FBN1):c.5672-6T>A
|
rs1555395850
|
|
NM_000138.5(FBN1):c.5672-87A>G
|
rs1060501029
|
|
NM_000138.5(FBN1):c.5672-8C>G
|
rs2141250478
|
|
NM_000138.5(FBN1):c.5674A>G (p.Ile1892Val)
|
rs760170973
|
|
NM_000138.5(FBN1):c.5674A>T (p.Ile1892Leu)
|
rs760170973
|
|
NM_000138.5(FBN1):c.5674del (p.Asp1891_Ile1892insTer)
|
|
|
NM_000138.5(FBN1):c.5675_5676del (p.Ile1892fs)
|
rs1597533713
|
|
NM_000138.5(FBN1):c.5678A>G (p.Asn1893Ser)
|
rs1597533707
|
|
NM_000138.5(FBN1):c.5679T>G (p.Asn1893Lys)
|
rs1597533706
|
|
NM_000138.5(FBN1):c.5683T>C (p.Cys1895Arg)
|
rs878853686
|
|
NM_000138.5(FBN1):c.5684G>A (p.Cys1895Tyr)
|
|
|
NM_000138.5(FBN1):c.5684del (p.Cys1895fs)
|
rs1555395846
|
|
NM_000138.5(FBN1):c.5688_5689del (p.Asp1898fs)
|
rs1555395843
|
|
NM_000138.5(FBN1):c.5688_5691del (p.Arg1897fs)
|
rs1566898828
|
|
NM_000138.5(FBN1):c.5695del (p.Ala1899fs)
|
rs2043163540
|
|
NM_000138.5(FBN1):c.5697C>T (p.Ala1899=)
|
rs772617187
|
|
NM_000138.5(FBN1):c.5698T>C (p.Cys1900Arg)
|
|
|
NM_000138.5(FBN1):c.5699G>A (p.Cys1900Tyr)
|
rs794728237
|
|
NM_000138.5(FBN1):c.5699G>T (p.Cys1900Phe)
|
rs794728237
|
|
NM_000138.5(FBN1):c.5703del (p.Asn1902fs)
|
|
|
NM_000138.5(FBN1):c.5706T>C (p.Asn1902=)
|
rs1597533673
|
|
NM_000138.5(FBN1):c.570C>T (p.Ile190=)
|
|
|
NM_000138.5(FBN1):c.5711C>T (p.Thr1904Ile)
|
rs1269096957
|
|
NM_000138.5(FBN1):c.5714G>C (p.Cys1905Ser)
|
rs112655848
|
|
NM_000138.5(FBN1):c.5714G>T (p.Cys1905Phe)
|
|
|
NM_000138.5(FBN1):c.5716del (p.Arg1906fs)
|
rs2141250394
|
|
NM_000138.5(FBN1):c.5718G>C (p.Arg1906=)
|
rs1403178913
|
|
NM_000138.5(FBN1):c.5719A>G (p.Asn1907Asp)
|
rs397515824
|
|
NM_000138.5(FBN1):c.5720A>G (p.Asn1907Ser)
|
rs1060501087
|
|
NM_000138.5(FBN1):c.5721C>G (p.Asn1907Lys)
|
rs397515826
|
|
NM_000138.5(FBN1):c.5722A>C (p.Thr1908Pro)
|
rs1555395834
|
|
NM_000138.5(FBN1):c.5725A>C (p.Ile1909Leu)
|
rs886038785
|
|
NM_000138.5(FBN1):c.5725A>G (p.Ile1909Val)
|
|
|
NM_000138.5(FBN1):c.5726T>C (p.Ile1909Thr)
|
rs794728333
|
|
NM_000138.5(FBN1):c.5728G>T (p.Gly1910Cys)
|
rs1597533619
|
|
NM_000138.5(FBN1):c.5729G>T (p.Gly1910Val)
|
|
|
NM_000138.5(FBN1):c.572G>T (p.Ser191Ile)
|
|
|
NM_000138.5(FBN1):c.5734_5736del (p.Phe1912del)
|
|
|
NM_000138.5(FBN1):c.5735T>C (p.Phe1912Ser)
|
rs1555395830
|
|
NM_000138.5(FBN1):c.5736C>G (p.Phe1912Leu)
|
rs1555395829
|
|
NM_000138.5(FBN1):c.5740T>G (p.Cys1914Gly)
|
rs2141250333
|
|
NM_000138.5(FBN1):c.5741G>A (p.Cys1914Tyr)
|
|
|
NM_000138.5(FBN1):c.5741G>T (p.Cys1914Phe)
|
rs1555395827
|
|
NM_000138.5(FBN1):c.5743C>A (p.Arg1915Ser)
|
rs1555395826
|
|
NM_000138.5(FBN1):c.5743C>T (p.Arg1915Cys)
|
rs1555395826
|
|
NM_000138.5(FBN1):c.5744G>A (p.Arg1915His)
|
|
|
NM_000138.5(FBN1):c.5746T>G (p.Cys1916Gly)
|
rs794728238
|
|
NM_000138.5(FBN1):c.5746_5748dup (p.Cys1916dup)
|
rs1597533588
|
|
NM_000138.5(FBN1):c.5747G>A (p.Cys1916Tyr)
|
rs397515827
|
|
NM_000138.5(FBN1):c.5747G>T (p.Cys1916Phe)
|
rs397515827
|
|
NM_000138.5(FBN1):c.5755G>A (p.Gly1919Ser)
|
rs867549163
|
|
NM_000138.5(FBN1):c.5756del (p.Gly1919fs)
|
rs1555395825
|
|
NM_000138.5(FBN1):c.5762T>G (p.Ile1921Ser)
|
|
|
NM_000138.5(FBN1):c.5770C>A (p.His1924Asn)
|
rs1201849394
|
|
NM_000138.5(FBN1):c.5774A>G (p.Asn1925Ser)
|
rs781395141
|
|
NM_000138.5(FBN1):c.577_583delinsAA (p.Gln193fs)
|
rs2044026528
|
|
NM_000138.5(FBN1):c.577del (p.Gln193fs)
|
rs1555401697
|
|
NM_000138.5(FBN1):c.5782T>C (p.Cys1928Arg)
|
rs2043162224
|
|
NM_000138.5(FBN1):c.5783G>A (p.Cys1928Tyr)
|
rs587782947
|
|
NM_000138.5(FBN1):c.5783G>T (p.Cys1928Phe)
|
rs587782947
|
|
NM_000138.5(FBN1):c.5788+10del
|
rs761983874
|
|
NM_000138.5(FBN1):c.5788+13_5788+14del
|
rs886038252
|
|
NM_000138.5(FBN1):c.5788+15T>A
|
rs543458649
|
|
NM_000138.5(FBN1):c.5788+15T>C
|
rs543458649
|
|
NM_000138.5(FBN1):c.5788+1G>A
|
rs1555395819
|
|
NM_000138.5(FBN1):c.5788+1G>T
|
rs1555395819
|
|
NM_000138.5(FBN1):c.5788+2T>C
|
rs1555395818
|
|
NM_000138.5(FBN1):c.5788+36C>A
|
rs1555395814
|
|
NM_000138.5(FBN1):c.5788+4C>A
|
rs577301285
|
|
NM_000138.5(FBN1):c.5788+4C>T
|
rs577301285
|
|
NM_000138.5(FBN1):c.5788+5G>C
|
|
|
NM_000138.5(FBN1):c.5788+5G>T
|
rs193922219
|
|
NM_000138.5(FBN1):c.5788+6T>G
|
rs1566898741
|
|
NM_000138.5(FBN1):c.5788G>A (p.Asp1930Asn)
|
rs1555395820
|
|
NM_000138.5(FBN1):c.5788G>C (p.Asp1930His)
|
rs1555395820
|
|
NM_000138.5(FBN1):c.5788G>T (p.Asp1930Tyr)
|
rs1555395820
|
|
NM_000138.5(FBN1):c.5789-10T>A
|
rs2141249325
|
|
NM_000138.5(FBN1):c.5789-11T>G
|
|
|
NM_000138.5(FBN1):c.5789-13G>A
|
rs777593835
|
|
NM_000138.5(FBN1):c.5789-14G>A
|
|
|
NM_000138.5(FBN1):c.5789-1G>A
|
rs2043152080
|
|
NM_000138.5(FBN1):c.5789A>G (p.Asp1930Gly)
|
|
|
NM_000138.5(FBN1):c.5791G>A (p.Val1931Ile)
|
rs1555395768
|
|
NM_000138.5(FBN1):c.5795A>C (p.Asp1932Ala)
|
rs1329934461
|
|
NM_000138.5(FBN1):c.5797G>A (p.Glu1933Lys)
|
rs2141249307
|
|
NM_000138.5(FBN1):c.5800T>A (p.Cys1934Ser)
|
rs1555395767
|
|
NM_000138.5(FBN1):c.5800T>C (p.Cys1934Arg)
|
rs1555395767
|
|
NM_000138.5(FBN1):c.5801G>A (p.Cys1934Tyr)
|
rs794728240
|
|
NM_000138.5(FBN1):c.5801G>C (p.Cys1934Ser)
|
rs794728240
|
|
NM_000138.5(FBN1):c.5802T>G (p.Cys1934Trp)
|
rs2141249297
|
|
NM_000138.5(FBN1):c.5806A>G (p.Ser1936Gly)
|
rs869025409
|
|
NM_000138.5(FBN1):c.5809G>T (p.Gly1937Ter)
|
rs1555395766
|
|
NM_000138.5(FBN1):c.5810G>A (p.Gly1937Glu)
|
rs1566898444
|
|
NM_000138.5(FBN1):c.5817del (p.Asn1940fs)
|
rs794728311
|
|
NM_000138.5(FBN1):c.5821C>T (p.Leu1941Phe)
|
rs1555395763
|
|
NM_000138.5(FBN1):c.5823_5824del (p.Cys1942fs)
|
rs1060501089
|
|
NM_000138.5(FBN1):c.5824T>A (p.Cys1942Ser)
|
rs1555395762
|
|
NM_000138.5(FBN1):c.5824T>C (p.Cys1942Arg)
|
rs1555395762
|
|
NM_000138.5(FBN1):c.5824T>G (p.Cys1942Gly)
|
rs1555395762
|
|
NM_000138.5(FBN1):c.5825G>A (p.Cys1942Tyr)
|
rs794728241
|
|
NM_000138.5(FBN1):c.5826C>A (p.Cys1942Ter)
|
rs363806
|
|
NM_000138.5(FBN1):c.5828G>T (p.Arg1943Ile)
|
rs1566898433
|
|
NM_000138.5(FBN1):c.5831del (p.Asn1944fs)
|
|
|
NM_000138.5(FBN1):c.5834G>A (p.Gly1945Asp)
|
rs1555395760
|
|
NM_000138.5(FBN1):c.5836C>T (p.Gln1946Ter)
|
|
|
NM_000138.5(FBN1):c.5836del (p.Gln1946fs)
|
rs2141249251
|
|
NM_000138.5(FBN1):c.5838A>G (p.Gln1946=)
|
rs759049300
|
|
NM_000138.5(FBN1):c.5839T>A (p.Cys1947Ser)
|
rs1131691938
|
|
NM_000138.5(FBN1):c.5839T>C (p.Cys1947Arg)
|
rs1131691938
|
|
NM_000138.5(FBN1):c.5839T>G (p.Cys1947Gly)
|
rs1131691938
|
|
NM_000138.5(FBN1):c.5840G>A (p.Cys1947Tyr)
|
rs397515828
|
|
NM_000138.5(FBN1):c.5846_5850dup (p.Val1951fs)
|
rs2043151379
|
|
NM_000138.5(FBN1):c.5850A>G (p.Thr1950=)
|
rs2043151355
|
|
NM_000138.5(FBN1):c.5855G>T (p.Gly1952Val)
|
rs2141249218
|
|
NM_000138.5(FBN1):c.5856G>T (p.Gly1952=)
|
|
|
NM_000138.5(FBN1):c.5856del (p.Ser1953fs)
|
|
|
NM_000138.5(FBN1):c.5857dup (p.Ser1953fs)
|
rs1555395757
|
|
NM_000138.5(FBN1):c.5860_5863dup (p.Gln1955fs)
|
rs2043151079
|
|
NM_000138.5(FBN1):c.5861T>G (p.Phe1954Cys)
|
rs730880104
|
|
NM_000138.5(FBN1):c.5861del (p.Phe1954fs)
|
rs1555395756
|
|
NM_000138.5(FBN1):c.5862C>G (p.Phe1954Leu)
|
|
|
NM_000138.5(FBN1):c.5863C>T (p.Gln1955Ter)
|
rs363807
|
|
NM_000138.5(FBN1):c.5863CAGTGC[1] (p.1955QC[1])
|
|
|
NM_000138.5(FBN1):c.5863del (p.Gln1955fs)
|
rs1555395753
|
|
NM_000138.5(FBN1):c.5864A>G (p.Gln1955Arg)
|
|
|
NM_000138.5(FBN1):c.5869C>T (p.Gln1957Ter)
|
rs397515829
|
|
NM_000138.5(FBN1):c.5872T>A (p.Cys1958Ser)
|
rs2141249174
|
|
NM_000138.5(FBN1):c.5874C>A (p.Cys1958Ter)
|
rs1555395750
|
|
NM_000138.5(FBN1):c.5885A>G (p.Tyr1962Cys)
|
rs1346043320
|
|
NM_000138.5(FBN1):c.5885dup (p.Tyr1962Ter)
|
|
|
NM_000138.5(FBN1):c.5888del (p.Glu1963fs)
|
rs727504315
|
|
NM_000138.5(FBN1):c.5892G>A (p.Val1964=)
|
|
|
NM_000138.5(FBN1):c.5898del (p.Asp1967fs)
|
rs1555395747
|
|
NM_000138.5(FBN1):c.589G>C (p.Gly197Arg)
|
rs886051251
|
|
NM_000138.5(FBN1):c.5902G>A (p.Gly1968Arg)
|
rs768997549
|
|
NM_000138.5(FBN1):c.5905del (p.Arg1969fs)
|
rs1566898399
|
|
NM_000138.5(FBN1):c.590del (p.Gly197fs)
|
rs1555401695
|
|
NM_000138.5(FBN1):c.5911T>C (p.Cys1971Arg)
|
rs1555395745
|
|
NM_000138.5(FBN1):c.5911T>G (p.Cys1971Gly)
|
rs1555395745
|
|
NM_000138.5(FBN1):c.5912G>A (p.Cys1971Tyr)
|
rs111239111
|
|
NM_000138.5(FBN1):c.5912del (p.Cys1971fs)
|
rs2043150170
|
|
NM_000138.5(FBN1):c.5917+11G>A
|
|
|
NM_000138.5(FBN1):c.5917+15del
|
|
|
NM_000138.5(FBN1):c.5917+1G>A
|
rs363808
|
|
NM_000138.5(FBN1):c.5917+1G>T
|
rs363808
|
|
NM_000138.5(FBN1):c.5917+1_5917+11del
|
rs2141249066
|
|
NM_000138.5(FBN1):c.5917+20A>G
|
|
|
NM_000138.5(FBN1):c.5917+3A>C
|
rs202158568
|
|
NM_000138.5(FBN1):c.5917+5G>A
|
rs1555395743
|
|
NM_000138.5(FBN1):c.5917+5G>T
|
rs1555395743
|
|
NM_000138.5(FBN1):c.5917+8C>T
|
rs1566898389
|
|
NM_000138.5(FBN1):c.5918-1G>A
|
rs1566898144
|
|
NM_000138.5(FBN1):c.5918-1G>C
|
rs1566898144
|
|
NM_000138.5(FBN1):c.5918-2A>G
|
rs869025418
|
|
NM_000138.5(FBN1):c.5918A>G (p.Asp1973Gly)
|
rs794728242
|
|
NM_000138.5(FBN1):c.5919dup (p.Ile1974fs)
|
rs1555395670
|
|
NM_000138.5(FBN1):c.5924A>G (p.Asn1975Ser)
|
rs2141248181
|
|
NM_000138.5(FBN1):c.5925T>A (p.Asn1975Lys)
|
|
|
NM_000138.5(FBN1):c.5926G>A (p.Glu1976Lys)
|
|
|
NM_000138.5(FBN1):c.5926del (p.Glu1976fs)
|
|
|
NM_000138.5(FBN1):c.5927A>C (p.Glu1976Ala)
|
rs1555395665
|
|
NM_000138.5(FBN1):c.5927A>G (p.Glu1976Gly)
|
rs1555395665
|
|
NM_000138.5(FBN1):c.5929T>A (p.Cys1977Ser)
|
rs2141248174
|
|
NM_000138.5(FBN1):c.592C>T (p.Gln198Ter)
|
rs1060501035
|
|
NM_000138.5(FBN1):c.5930G>A (p.Cys1977Tyr)
|
rs1555395663
|
|
NM_000138.5(FBN1):c.5931T>A (p.Cys1977Ter)
|
|
|
NM_000138.5(FBN1):c.5936T>C (p.Leu1979Pro)
|
|
|
NM_000138.5(FBN1):c.5937_5938insT (p.Glu1980Ter)
|
rs2141248157
|
|
NM_000138.5(FBN1):c.5938G>C (p.Glu1980Gln)
|
rs370940450
|
|
NM_000138.5(FBN1):c.5943del (p.Arg1982fs)
|
rs1555395661
|
|
NM_000138.5(FBN1):c.5950T>C (p.Cys1984Arg)
|
rs1555395659
|
|
NM_000138.5(FBN1):c.5951G>A (p.Cys1984Tyr)
|
rs1555395658
|
|
NM_000138.5(FBN1):c.5952T>G (p.Cys1984Trp)
|
|
|
NM_000138.5(FBN1):c.5956_5957insA (p.Pro1986fs)
|
rs2141248130
|
|
NM_000138.5(FBN1):c.5959G>T (p.Gly1987Cys)
|
|
|
NM_000138.5(FBN1):c.595C>G (p.Leu199Val)
|
rs1221144366
|
|
NM_000138.5(FBN1):c.595C>T (p.Leu199Phe)
|
rs1221144366
|
|
NM_000138.5(FBN1):c.5960G>C (p.Gly1987Ala)
|
rs2043140093
|
|
NM_000138.5(FBN1):c.5961dup (p.Thr1988fs)
|
rs1555395653
|
|
NM_000138.5(FBN1):c.5965T>A (p.Cys1989Ser)
|
rs2043139988
|
|
NM_000138.5(FBN1):c.5965T>G (p.Cys1989Gly)
|
rs2043139988
|
|
NM_000138.5(FBN1):c.5966G>C (p.Cys1989Ser)
|
rs1597531796
|
|
NM_000138.5(FBN1):c.5966G>T (p.Cys1989Phe)
|
rs1597531796
|
|
NM_000138.5(FBN1):c.5967T>G (p.Cys1989Trp)
|
rs1555395652
|
|
NM_000138.5(FBN1):c.5971A>C (p.Asn1991His)
|
rs794728243
|
|
NM_000138.5(FBN1):c.5971_5972del (p.Asn1991fs)
|
|
|
NM_000138.5(FBN1):c.5976G>C (p.Leu1992Phe)
|
|
|
NM_000138.5(FBN1):c.5978del (p.Asp1993fs)
|
rs2043139896
|
|
NM_000138.5(FBN1):c.5980_5981delinsTT (p.Gly1994Leu)
|
rs1597531779
|
|
NM_000138.5(FBN1):c.5981G>A (p.Gly1994Glu)
|
rs1484900122
|
|
NM_000138.5(FBN1):c.5981G>C (p.Gly1994Ala)
|
rs1484900122
|
|
NM_000138.5(FBN1):c.5981G>T (p.Gly1994Val)
|
rs1484900122
|
|
NM_000138.5(FBN1):c.5983T>C (p.Ser1995Pro)
|
rs1555395649
|
|
NM_000138.5(FBN1):c.5986T>C (p.Tyr1996His)
|
|
|
NM_000138.5(FBN1):c.5989A>C (p.Arg1997=)
|
|
|
NM_000138.5(FBN1):c.5992T>A (p.Cys1998Ser)
|
rs2141248056
|
|
NM_000138.5(FBN1):c.5993G>A (p.Cys1998Tyr)
|
rs1085307531
|
|
NM_000138.5(FBN1):c.5993G>T (p.Cys1998Phe)
|
rs1085307531
|
|
NM_000138.5(FBN1):c.5994C>G (p.Cys1998Trp)
|
rs1555395648
|
|
NM_000138.5(FBN1):c.5994C>T (p.Cys1998=)
|
rs1555395648
|
|
NM_000138.5(FBN1):c.5995A>G (p.Ile1999Val)
|
rs183690919
|
|
NM_000138.5(FBN1):c.5998del (p.Cys2000fs)
|
rs1367820520
|
|
NM_000138.5(FBN1):c.5999G>A (p.Cys2000Tyr)
|
rs1555395645
|
|
NM_000138.5(FBN1):c.6004C>T (p.Pro2002Ser)
|
rs1057519320
|
|
NM_000138.5(FBN1):c.6005C>T (p.Pro2002Leu)
|
rs1566898093
|
|
NM_000138.5(FBN1):c.6006_6012dup (p.Ser2005fs)
|
rs193922220
|
|
NM_000138.5(FBN1):c.600C>T (p.Ser200=)
|
|
|
NM_000138.5(FBN1):c.6012_6013del (p.Tyr2004_Ser2005delinsTer)
|
|
|
NM_000138.5(FBN1):c.6015T>C (p.Ser2005=)
|
|
|
NM_000138.5(FBN1):c.6019C>T (p.Gln2007Ter)
|
rs1555395641
|
|
NM_000138.5(FBN1):c.6023del (p.Asn2008fs)
|
rs1555395640
|
|
NM_000138.5(FBN1):c.6029del (p.Lys2010fs)
|
rs2141248004
|
|
NM_000138.5(FBN1):c.6030del (p.Lys2010fs)
|
|
|
NM_000138.5(FBN1):c.6031T>C (p.Cys2011Arg)
|
rs2141248001
|
|
NM_000138.5(FBN1):c.6032G>A (p.Cys2011Tyr)
|
rs886038967
|
|
NM_000138.5(FBN1):c.6034G>T (p.Glu2012Ter)
|
rs2141247988
|
|
NM_000138.5(FBN1):c.6036A>G (p.Glu2012=)
|
rs1597531690
|
|
NM_000138.5(FBN1):c.6037+10C>T
|
rs2141247970
|
|
NM_000138.5(FBN1):c.6037+11_6037+12delinsCT
|
|
|
NM_000138.5(FBN1):c.6037+16G>A
|
|
|
NM_000138.5(FBN1):c.6037+17T>C
|
|
|
NM_000138.5(FBN1):c.6037+2T>C
|
rs2043139226
|
|
NM_000138.5(FBN1):c.6037+9G>A
|
|
|
NM_000138.5(FBN1):c.6037G>C (p.Asp2013His)
|
rs1555395638
|
|
NM_000138.5(FBN1):c.6038-13G>T
|
rs536742402
|
|
NM_000138.5(FBN1):c.6038-14T>C
|
rs369107058
|
|
NM_000138.5(FBN1):c.6038-16C>T
|
|
|
NM_000138.5(FBN1):c.6038-1G>A
|
rs1555395489
|
|
NM_000138.5(FBN1):c.6038-23_6038-20del
|
|
|
NM_000138.5(FBN1):c.6038-3T>C
|
rs2043117848
|
|
NM_000138.5(FBN1):c.6038A>G (p.Asp2013Gly)
|
|
|
NM_000138.5(FBN1):c.6038A>T (p.Asp2013Val)
|
rs869025410
|
|
NM_000138.5(FBN1):c.6038_6040dup (p.Asp2013_Ile2014insAsn)
|
rs1597529929
|
|
NM_000138.5(FBN1):c.603del (p.Ile202fs)
|
rs2141358361
|
|
NM_000138.5(FBN1):c.6046G>A (p.Glu2016Lys)
|
rs2141245531
|
|
NM_000138.5(FBN1):c.6048G>A (p.Glu2016=)
|
rs991367684
|
|
NM_000138.5(FBN1):c.6048_6056del (p.Cys2017_Glu2019del)
|
rs1555395483
|
|
NM_000138.5(FBN1):c.6049T>C (p.Cys2017Arg)
|
rs1555395486
|
|
NM_000138.5(FBN1):c.6050G>A (p.Cys2017Tyr)
|
rs2141245523
|
|
NM_000138.5(FBN1):c.6051T>G (p.Cys2017Trp)
|
rs1566897420
|
|
NM_000138.5(FBN1):c.6052_6053del (p.Val2018fs)
|
rs2043117611
|
|
NM_000138.5(FBN1):c.6059_6080del (p.Glu2020fs)
|
|
|
NM_000138.5(FBN1):c.6060G>A (p.Glu2020=)
|
rs1597529860
|
|
NM_000138.5(FBN1):c.6064G>T (p.Glu2022Ter)
|
rs1555395482
|
|
NM_000138.5(FBN1):c.6067del (p.Ile2023fs)
|
rs1597529841
|
|
NM_000138.5(FBN1):c.6068_6069insCCCTT (p.Cys2024fs)
|
rs2141245482
|
|
NM_000138.5(FBN1):c.6070dup (p.Cys2024fs)
|
rs1597529829
|
|
NM_000138.5(FBN1):c.6071G>A (p.Cys2024Tyr)
|
rs1597529826
|
|
NM_000138.5(FBN1):c.6071G>T (p.Cys2024Phe)
|
rs1597529826
|
|
NM_000138.5(FBN1):c.6073G>A (p.Ala2025Thr)
|
|
|
NM_000138.5(FBN1):c.6075C>G (p.Ala2025=)
|
rs1597529820
|
|
NM_000138.5(FBN1):c.6079G>T (p.Gly2027Cys)
|
rs1566897404
|
|
NM_000138.5(FBN1):c.6080del (p.Gly2027fs)
|
rs1555395480
|
|
NM_000138.5(FBN1):c.6082A>C (p.Thr2028Pro)
|
|
|
NM_000138.5(FBN1):c.6084A>G (p.Thr2028=)
|
rs1597529803
|
|
NM_000138.5(FBN1):c.6086G>A (p.Cys2029Tyr)
|
rs1057517855
|
|
NM_000138.5(FBN1):c.6087C>A (p.Cys2029Ter)
|
rs1555395475
|
|
NM_000138.5(FBN1):c.6087C>G (p.Cys2029Trp)
|
rs1555395475
|
|
NM_000138.5(FBN1):c.6090dup (p.Asn2031Ter)
|
rs1597529775
|
|
NM_000138.5(FBN1):c.609_630del (p.Cys204fs)
|
|
|
NM_000138.5(FBN1):c.6111A>G (p.Lys2037=)
|
|
|
NM_000138.5(FBN1):c.6113G>C (p.Cys2038Ser)
|
rs363804
|
|
NM_000138.5(FBN1):c.6113del (p.Cys2038fs)
|
rs2141245408
|
|
NM_000138.5(FBN1):c.6118T>C (p.Cys2040Arg)
|
rs1597529748
|
|
NM_000138.5(FBN1):c.6119G>A (p.Cys2040Tyr)
|
rs397515830
|
|
NM_000138.5(FBN1):c.6120T>C (p.Cys2040=)
|
rs193922221
|
|
NM_000138.5(FBN1):c.6120T>G (p.Cys2040Trp)
|
|
|
NM_000138.5(FBN1):c.6121_6130del (p.Pro2041fs)
|
rs2043116708
|
|
NM_000138.5(FBN1):c.6122C>T (p.Pro2041Leu)
|
|
|
NM_000138.5(FBN1):c.6123A>G (p.Pro2041=)
|
|
|
NM_000138.5(FBN1):c.6126del (p.Ser2045fs)
|
|
|
NM_000138.5(FBN1):c.6129G>T (p.Gly2043=)
|
|
|
NM_000138.5(FBN1):c.6130T>G (p.Phe2044Val)
|
rs2043116688
|
|
NM_000138.5(FBN1):c.6139del (p.Ser2047fs)
|
rs2043116624
|
|
NM_000138.5(FBN1):c.6140C>T (p.Ser2047Phe)
|
rs1060501046
|
|
NM_000138.5(FBN1):c.6141C>T (p.Ser2047=)
|
rs2141245369
|
|
NM_000138.5(FBN1):c.6144C>T (p.Ser2048=)
|
|
|
NM_000138.5(FBN1):c.6145del (p.Ser2049fs)
|
|
|
NM_000138.5(FBN1):c.6149del (p.Gly2050fs)
|
rs1597529686
|
|
NM_000138.5(FBN1):c.6151A>T (p.Arg2051Ter)
|
|
|
NM_000138.5(FBN1):c.6151dup (p.Arg2051fs)
|
|
|
NM_000138.5(FBN1):c.6157T>A (p.Cys2053Ser)
|
|
|
NM_000138.5(FBN1):c.6158G>A (p.Cys2053Tyr)
|
rs363805
|
|
NM_000138.5(FBN1):c.6159C>A (p.Cys2053Ter)
|
rs1060501095
|
|
NM_000138.5(FBN1):c.6160C>T (p.Gln2054Ter)
|
rs1555395456
|
|
NM_000138.5(FBN1):c.6161A>G (p.Gln2054Arg)
|
rs2043116342
|
|
NM_000138.5(FBN1):c.6162A>G (p.Gln2054=)
|
|
|
NM_000138.5(FBN1):c.6163+17G>C
|
|
|
NM_000138.5(FBN1):c.6163+1G>A
|
rs1566897374
|
|
NM_000138.5(FBN1):c.6163+1_6163+2del
|
|
|
NM_000138.5(FBN1):c.6163+8T>G
|
|
|
NM_000138.5(FBN1):c.6164-1G>A
|
rs1060501048
|
|
NM_000138.5(FBN1):c.6164-1G>C
|
rs1060501048
|
|
NM_000138.5(FBN1):c.6164-1G>T
|
|
|
NM_000138.5(FBN1):c.6164-2A>G
|
rs794728244
|
|
NM_000138.5(FBN1):c.6164-3_6164-1del
|
rs2043085905
|
|
NM_000138.5(FBN1):c.6164-5T>C
|
rs2043085940
|
|
NM_000138.5(FBN1):c.6169C>T (p.Arg2057Ter)
|
rs763091520
|
|
NM_000138.5(FBN1):c.616A>T (p.Lys206Ter)
|
rs2044026093
|
|
NM_000138.5(FBN1):c.6170G>T (p.Arg2057Leu)
|
|
|
NM_000138.5(FBN1):c.6180C>A (p.Tyr2060Ter)
|
|
|
NM_000138.5(FBN1):c.6180C>G (p.Tyr2060Ter)
|
rs974604498
|
|
NM_000138.5(FBN1):c.6181T>C (p.Cys2061Arg)
|
rs1555395267
|
|
NM_000138.5(FBN1):c.6183T>A (p.Cys2061Ter)
|
rs71467648
|
|
NM_000138.5(FBN1):c.6185A>C (p.Tyr2062Ser)
|
rs1555395266
|
|
NM_000138.5(FBN1):c.6188C>T (p.Ala2063Val)
|
|
|
NM_000138.5(FBN1):c.6199G>T (p.Gly2067Ter)
|
rs1342803259
|
|
NM_000138.5(FBN1):c.619dup (p.Thr207fs)
|
rs1555401689
|
|
NM_000138.5(FBN1):c.6207G>A (p.Lys2069=)
|
rs1021415072
|
|
NM_000138.5(FBN1):c.6208T>C (p.Cys2070Arg)
|
|
|
NM_000138.5(FBN1):c.6209G>A (p.Cys2070Tyr)
|
rs1060501044
|
|
NM_000138.5(FBN1):c.6209G>T (p.Cys2070Phe)
|
rs1060501044
|
|
NM_000138.5(FBN1):c.6215C>A (p.Ser2072Ter)
|
rs2043085394
|
|
NM_000138.5(FBN1):c.6219C>T (p.Pro2073=)
|
rs771786623
|
|
NM_000138.5(FBN1):c.621G>A (p.Thr207=)
|
rs765173237
|
|
NM_000138.5(FBN1):c.621del (p.Leu208fs)
|
rs2141358303
|
|
NM_000138.5(FBN1):c.6235T>C (p.Ser2079Pro)
|
|
|
NM_000138.5(FBN1):c.6236C>G (p.Ser2079Cys)
|
rs1555395263
|
|
NM_000138.5(FBN1):c.623T>A (p.Leu208His)
|
rs2044025908
|
|
NM_000138.5(FBN1):c.6243G>A (p.Gln2081=)
|
|
|
NM_000138.5(FBN1):c.6244G>T (p.Glu2082Ter)
|
rs1052480459
|
|
NM_000138.5(FBN1):c.6249_6254del (p.Cys2084_Cys2085del)
|
rs2141241487
|
|
NM_000138.5(FBN1):c.6250T>A (p.Cys2084Ser)
|
rs2141241499
|
|
NM_000138.5(FBN1):c.6250_6253dup (p.Cys2085fs)
|
|
|
NM_000138.5(FBN1):c.6251G>A (p.Cys2084Tyr)
|
rs794728245
|
|
NM_000138.5(FBN1):c.6253T>G (p.Cys2085Gly)
|
rs2141241496
|
|
NM_000138.5(FBN1):c.6254G>A (p.Cys2085Tyr)
|
rs1555395261
|
|
NM_000138.5(FBN1):c.6254G>C (p.Cys2085Ser)
|
rs1555395261
|
|
NM_000138.5(FBN1):c.6264G>C (p.Lys2088Asn)
|
rs886051247
|
|
NM_000138.5(FBN1):c.6266del (p.Gly2089fs)
|
rs1597526729
|
|
NM_000138.5(FBN1):c.626G>C (p.Cys209Ser)
|
rs1555401687
|
|
NM_000138.5(FBN1):c.626G>T (p.Cys209Phe)
|
rs1555401687
|
|
NM_000138.5(FBN1):c.6272G>A (p.Gly2091Asp)
|
rs878853687
|
|
NM_000138.5(FBN1):c.6274T>C (p.Trp2092Arg)
|
rs794728246
|
|
NM_000138.5(FBN1):c.6276G>A (p.Trp2092Ter)
|
rs1555395260
|
|
NM_000138.5(FBN1):c.6277G>C (p.Gly2093Arg)
|
rs1064793117
|
|
NM_000138.5(FBN1):c.6282C>A (p.Asp2094Glu)
|
|
|
NM_000138.5(FBN1):c.6285del (p.Cys2096fs)
|
rs2141241437
|
|
NM_000138.5(FBN1):c.6285dup (p.Cys2096fs)
|
|
|
NM_000138.5(FBN1):c.6289G>T (p.Glu2097Ter)
|
rs397515831
|
|
NM_000138.5(FBN1):c.6296G>A (p.Cys2099Tyr)
|
rs1131691803
|
|
NM_000138.5(FBN1):c.6297C>G (p.Cys2099Trp)
|
|
|
NM_000138.5(FBN1):c.629G>A (p.Cys210Tyr)
|
rs1085307468
|
|
NM_000138.5(FBN1):c.6303G>A (p.Thr2101=)
|
rs2043084739
|
|
NM_000138.5(FBN1):c.6308C>T (p.Pro2103Leu)
|
|
|
NM_000138.5(FBN1):c.6309dup (p.Asp2104Ter)
|
rs2141241409
|
|
NM_000138.5(FBN1):c.6313+1G>A
|
rs2141241397
|
|
NM_000138.5(FBN1):c.6313+20T>C
|
|
|
NM_000138.5(FBN1):c.6313+2T>C
|
rs1555395257
|
|
NM_000138.5(FBN1):c.6313+3A>G
|
rs1555395256
|
|
NM_000138.5(FBN1):c.6313+5G>A
|
rs878853688
|
|
NM_000138.5(FBN1):c.6313+5G>C
|
rs878853688
|
|
NM_000138.5(FBN1):c.6313+9G>A
|
|
|
NM_000138.5(FBN1):c.6313G>A (p.Glu2105Lys)
|
rs794728247
|
|
NM_000138.5(FBN1):c.6313G>T (p.Glu2105Ter)
|
rs794728247
|
|
NM_000138.5(FBN1):c.6313_6313+1delinsAC
|
|
|
NM_000138.5(FBN1):c.6314-14T>A
|
|
|
NM_000138.5(FBN1):c.6314-14T>G
|
|
|
NM_000138.5(FBN1):c.6314-2A>C
|
rs2141240964
|
|
NM_000138.5(FBN1):c.6314-3del
|
rs2141240967
|
|
NM_000138.5(FBN1):c.6314-6C>G
|
|
|
NM_000138.5(FBN1):c.6314-6C>T
|
rs2141240971
|
|
NM_000138.5(FBN1):c.6314-7_6322del
|
rs2141240946
|
|
NM_000138.5(FBN1):c.6314A>T (p.Glu2105Val)
|
rs1165109120
|
|
NM_000138.5(FBN1):c.6320T>G (p.Phe2107Cys)
|
rs1555395230
|
|
NM_000138.5(FBN1):c.6320dup (p.Arg2108fs)
|
rs2043081795
|
|
NM_000138.5(FBN1):c.6322C>T (p.Arg2108Cys)
|
rs1246984265
|
|
NM_000138.5(FBN1):c.6322del (p.Arg2108fs)
|
rs2141240943
|
|
NM_000138.5(FBN1):c.6325C>T (p.Gln2109Ter)
|
rs1555395229
|
|
NM_000138.5(FBN1):c.6327del (p.Ile2110fs)
|
rs1555395228
|
|
NM_000138.5(FBN1):c.6331T>C (p.Cys2111Arg)
|
rs363815
|
|
NM_000138.5(FBN1):c.6331T>G (p.Cys2111Gly)
|
rs363815
|
|
NM_000138.5(FBN1):c.6332G>A (p.Cys2111Tyr)
|
rs1131691467
|
|
NM_000138.5(FBN1):c.6335C>G (p.Pro2112Arg)
|
|
|
NM_000138.5(FBN1):c.6336T>G (p.Pro2112=)
|
rs772876451
|
|
NM_000138.5(FBN1):c.6337T>C (p.Tyr2113His)
|
|
|
NM_000138.5(FBN1):c.6338dup (p.Tyr2113Ter)
|
rs2141240902
|
|
NM_000138.5(FBN1):c.6339T>G (p.Tyr2113Ter)
|
rs267606797
|
|
NM_000138.5(FBN1):c.6340G>T (p.Gly2114Ter)
|
|
|
NM_000138.5(FBN1):c.6347G>C (p.Gly2116Ala)
|
rs1555395226
|
|
NM_000138.5(FBN1):c.6348G>A (p.Gly2116=)
|
|
|
NM_000138.5(FBN1):c.6349A>G (p.Ile2117Val)
|
rs572754741
|
|
NM_000138.5(FBN1):c.634A>C (p.Thr212Pro)
|
rs1597593736
|
|
NM_000138.5(FBN1):c.6350T>A (p.Ile2117Asn)
|
rs769196373
|
|
NM_000138.5(FBN1):c.6354C>G (p.Ile2118Met)
|
rs112989722
|
|
NM_000138.5(FBN1):c.6355G>A (p.Val2119Met)
|
rs876660976
|
|
NM_000138.5(FBN1):c.6357G>C (p.Val2119=)
|
rs886051246
|
|
NM_000138.5(FBN1):c.6359G>T (p.Gly2120Val)
|
rs1310047239
|
|
NM_000138.5(FBN1):c.635_636del (p.Thr212fs)
|
rs1566922422
|
|
NM_000138.5(FBN1):c.6365A>G (p.Asp2122Gly)
|
|
|
NM_000138.5(FBN1):c.636A>C (p.Thr212=)
|
|
|
NM_000138.5(FBN1):c.6371C>G (p.Ser2124Ter)
|
rs1190410675
|
|
NM_000138.5(FBN1):c.6373_6379+1dup
|
|
|
NM_000138.5(FBN1):c.6375A>C (p.Ala2125=)
|
rs2141240830
|
|
NM_000138.5(FBN1):c.6375A>G (p.Ala2125=)
|
rs2141240830
|
|
NM_000138.5(FBN1):c.6379+11T>A
|
|
|
NM_000138.5(FBN1):c.6379+16T>G
|
|
|
NM_000138.5(FBN1):c.6379+17G>T
|
|
|
NM_000138.5(FBN1):c.6379+1G>A
|
rs397515833
|
|
NM_000138.5(FBN1):c.6379+2T>C
|
rs113453570
|
|
NM_000138.5(FBN1):c.6379+2T>G
|
rs113453570
|
|
NM_000138.5(FBN1):c.6379+3C>G
|
rs2043081154
|
|
NM_000138.5(FBN1):c.6379+5G>A
|
rs1085307875
|
|
NM_000138.5(FBN1):c.6379+9C>T
|
rs1555395223
|
|
NM_000138.5(FBN1):c.6379G>A (p.Asp2127Asn)
|
rs1555395225
|
|
NM_000138.5(FBN1):c.6379G>C (p.Asp2127His)
|
|
|
NM_000138.5(FBN1):c.6380-13del
|
rs768078387
|
|
NM_000138.5(FBN1):c.6380-1G>T
|
rs1597526073
|
|
NM_000138.5(FBN1):c.6380-20T>C
|
|
|
NM_000138.5(FBN1):c.6380-20dup
|
rs768078387
|
|
NM_000138.5(FBN1):c.6380-2A>C
|
rs886041482
|
|
NM_000138.5(FBN1):c.6380-2A>G
|
rs886041482
|
|
NM_000138.5(FBN1):c.6380-83del
|
rs193922222
|
|
NM_000138.5(FBN1):c.6380A>C (p.Asp2127Ala)
|
rs2141240523
|
|
NM_000138.5(FBN1):c.6380A>G (p.Asp2127Gly)
|
rs2141240523
|
|
NM_000138.5(FBN1):c.6380A>T (p.Asp2127Val)
|
rs2141240523
|
|
NM_000138.5(FBN1):c.6383T>C (p.Met2128Thr)
|
rs2141240519
|
|
NM_000138.5(FBN1):c.6385G>T (p.Asp2129Tyr)
|
rs193922223
|
|
NM_000138.5(FBN1):c.6386A>G (p.Asp2129Gly)
|
rs1566896114
|
|
NM_000138.5(FBN1):c.6386A>T (p.Asp2129Val)
|
rs1566896114
|
|
NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys)
|
rs794728334
|
|
NM_000138.5(FBN1):c.6388G>T (p.Glu2130Ter)
|
rs794728334
|
|
NM_000138.5(FBN1):c.6391T>A (p.Cys2131Ser)
|
rs1555395210
|
|
NM_000138.5(FBN1):c.6391T>C (p.Cys2131Arg)
|
rs1555395210
|
|
NM_000138.5(FBN1):c.6392del (p.Cys2131fs)
|
rs2141240489
|
|
NM_000138.5(FBN1):c.6393C>G (p.Cys2131Trp)
|
rs61730051
|
|
NM_000138.5(FBN1):c.6394A>G (p.Lys2132Glu)
|
|
|
NM_000138.5(FBN1):c.6397_6399del (p.Glu2133del)
|
rs1060501037
|
|
NM_000138.5(FBN1):c.6401C>T (p.Pro2134Leu)
|
rs1566896102
|
|
NM_000138.5(FBN1):c.6403G>C (p.Asp2135His)
|
rs746167150
|
|
NM_000138.5(FBN1):c.6404A>T (p.Asp2135Val)
|
|
|
NM_000138.5(FBN1):c.6409T>G (p.Cys2137Gly)
|
rs2141240456
|
|
NM_000138.5(FBN1):c.640G>A (p.Gly214Ser)
|
rs794728162
|
|
NM_000138.5(FBN1):c.6410G>A (p.Cys2137Tyr)
|
rs1555395206
|
|
NM_000138.5(FBN1):c.6412_6441del (p.Lys2138_Gly2147del)
|
rs1566896070
|
|
NM_000138.5(FBN1):c.6414del (p.Lys2138fs)
|
rs1555395205
|
|
NM_000138.5(FBN1):c.6416del (p.His2139fs)
|
|
|
NM_000138.5(FBN1):c.6418G>A (p.Gly2140Arg)
|
rs794728249
|
|
NM_000138.5(FBN1):c.6419G>A (p.Gly2140Glu)
|
rs1064793118
|
|
NM_000138.5(FBN1):c.6422A>T (p.Gln2141Leu)
|
|
|
NM_000138.5(FBN1):c.6423del (p.Gln2141fs)
|
rs2141240428
|
|
NM_000138.5(FBN1):c.6424T>A (p.Cys2142Ser)
|
rs1555395203
|
|
NM_000138.5(FBN1):c.6424T>C (p.Cys2142Arg)
|
rs1555395203
|
|
NM_000138.5(FBN1):c.6424T>G (p.Cys2142Gly)
|
|
|
NM_000138.5(FBN1):c.6425G>A (p.Cys2142Tyr)
|
rs794728335
|
|
NM_000138.5(FBN1):c.6430A>C (p.Asn2144His)
|
rs886038943
|
|
NM_000138.5(FBN1):c.6431A>G (p.Asn2144Ser)
|
rs137854461
|
|
NM_000138.5(FBN1):c.6434C>T (p.Thr2145Ile)
|
rs2043078019
|
|
NM_000138.5(FBN1):c.643C>T (p.Arg215Ter)
|
rs111687884
|
|
NM_000138.5(FBN1):c.6440G>A (p.Gly2147Asp)
|
rs1597525958
|
|
NM_000138.5(FBN1):c.6440dup (p.Ser2148fs)
|
rs2141240388
|
|
NM_000138.5(FBN1):c.6446A>G (p.Tyr2149Cys)
|
rs113080385
|
|
NM_000138.5(FBN1):c.6446A>T (p.Tyr2149Phe)
|
rs113080385
|
|
NM_000138.5(FBN1):c.6449G>A (p.Arg2150His)
|
|
|
NM_000138.5(FBN1):c.6449G>T (p.Arg2150Leu)
|
rs794728250
|
|
NM_000138.5(FBN1):c.6451T>C (p.Cys2151Arg)
|
|
|
NM_000138.5(FBN1):c.6452G>A (p.Cys2151Tyr)
|
rs112464743
|
|
NM_000138.5(FBN1):c.6453C>T (p.Cys2151=)
|
rs794728251
|
|
NM_000138.5(FBN1):c.645A>T (p.Arg215=)
|
rs200062771
|
|
NM_000138.5(FBN1):c.6460C>T (p.Pro2154Ser)
|
rs2043077718
|
|
NM_000138.5(FBN1):c.6471T>A (p.Tyr2157Ter)
|
rs1060501034
|
|
NM_000138.5(FBN1):c.6483_6496+1del
|
rs2141240279
|
|
NM_000138.5(FBN1):c.6487G>T (p.Glu2163Ter)
|
rs1555395191
|
|
NM_000138.5(FBN1):c.6490T>G (p.Cys2164Gly)
|
rs2141240296
|
|
NM_000138.5(FBN1):c.6491G>A (p.Cys2164Tyr)
|
rs1555395189
|
|
NM_000138.5(FBN1):c.6496+10A>C
|
|
|
NM_000138.5(FBN1):c.6496+12G>A
|
rs899879407
|
|
NM_000138.5(FBN1):c.6496+1G>A
|
rs1555395188
|
|
NM_000138.5(FBN1):c.6496+1G>T
|
rs1555395188
|
|
NM_000138.5(FBN1):c.6496+1del
|
rs1597525871
|
|
NM_000138.5(FBN1):c.6496+2T>G
|
rs1555395187
|
|
NM_000138.5(FBN1):c.6496+5G>C
|
rs1555395186
|
|
NM_000138.5(FBN1):c.6496G>A (p.Asp2166Asn)
|
rs794728252
|
|
NM_000138.5(FBN1):c.6497-13T>C
|
|
|
NM_000138.5(FBN1):c.6497-14_6497-12del
|
|
|
NM_000138.5(FBN1):c.6497-15C>T
|
rs569535886
|
|
NM_000138.5(FBN1):c.6497-16_6497-15delinsCA
|
|
|
NM_000138.5(FBN1):c.6497-19C>T
|
|
|
NM_000138.5(FBN1):c.6497-1G>A
|
|
|
NM_000138.5(FBN1):c.6497-3C>G
|
rs2141237196
|
|
NM_000138.5(FBN1):c.6497-4G>A
|
|
|
NM_000138.5(FBN1):c.6497-9T>A
|
|
|
NM_000138.5(FBN1):c.6497A>G (p.Asp2166Gly)
|
|
|
NM_000138.5(FBN1):c.649T>G (p.Trp217Gly)
|
rs193922224
|
|
NM_000138.5(FBN1):c.6500_6501insCTGGTTTCT (p.Thr2167_Asp2168insTrpPheLeu)
|
|
|
NM_000138.5(FBN1):c.6501T>C (p.Thr2167=)
|
rs2141237184
|
|
NM_000138.5(FBN1):c.6503A>G (p.Asp2168Gly)
|
rs1555395015
|
|
NM_000138.5(FBN1):c.6505G>A (p.Glu2169Lys)
|
|
|
NM_000138.5(FBN1):c.6505G>T (p.Glu2169Ter)
|
|
|
NM_000138.5(FBN1):c.6508T>C (p.Cys2170Arg)
|
rs1597523873
|
|
NM_000138.5(FBN1):c.6509G>A (p.Cys2170Tyr)
|
rs363821
|
|
NM_000138.5(FBN1):c.6512C>T (p.Ser2171Phe)
|
rs1413266501
|
|
NM_000138.5(FBN1):c.6514G>A (p.Val2172Ile)
|
rs1243025749
|
|
NM_000138.5(FBN1):c.6514G>T (p.Val2172Phe)
|
|
|
NM_000138.5(FBN1):c.6515_6516delinsG (p.Val2172fs)
|
rs397515834
|
|
NM_000138.5(FBN1):c.651G>A (p.Trp217Ter)
|
|
|
NM_000138.5(FBN1):c.6523C>A (p.Pro2175Thr)
|
rs2043051465
|
|
NM_000138.5(FBN1):c.6524C>T (p.Pro2175Leu)
|
rs2141237135
|
|
NM_000138.5(FBN1):c.6524del (p.Pro2175fs)
|
rs1555395013
|
|
NM_000138.5(FBN1):c.6527G>A (p.Cys2176Tyr)
|
|
|
NM_000138.5(FBN1):c.6528T>A (p.Cys2176Ter)
|
|
|
NM_000138.5(FBN1):c.6528T>G (p.Cys2176Trp)
|
rs2141237128
|
|
NM_000138.5(FBN1):c.6533A>G (p.Asn2178Ser)
|
rs2141237126
|
|
NM_000138.5(FBN1):c.653del (p.Gly218fs)
|
|
|
NM_000138.5(FBN1):c.653dup (p.His219fs)
|
|
|
NM_000138.5(FBN1):c.6541del (p.Cys2181fs)
|
rs1060501059
|
|
NM_000138.5(FBN1):c.6549T>A (p.Asn2183Lys)
|
rs752192006
|
|
NM_000138.5(FBN1):c.6549T>C (p.Asn2183=)
|
|
|
NM_000138.5(FBN1):c.6549T>G (p.Asn2183Lys)
|
rs752192006
|
|
NM_000138.5(FBN1):c.654C>T (p.Gly218=)
|
|
|
NM_000138.5(FBN1):c.6550_6553del (p.Val2184fs)
|
rs2141237105
|
|
NM_000138.5(FBN1):c.6553_6556dup (p.Gly2186fs)
|
rs193922225
|
|
NM_000138.5(FBN1):c.6554T>C (p.Ile2185Thr)
|
rs910656654
|
|
NM_000138.5(FBN1):c.6554T>G (p.Ile2185Ser)
|
rs910656654
|
|
NM_000138.5(FBN1):c.6563T>G (p.Phe2188Cys)
|
|
|
NM_000138.5(FBN1):c.6564_6565insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCGATTGGAGGTTTT (p.Glu2189delinsPhePhePhePhePhePheXaaXaaXaaXaaValSerProPheTer)
|
|
|
NM_000138.5(FBN1):c.6568T>A (p.Cys2190Ser)
|
rs1566895263
|
|
NM_000138.5(FBN1):c.6568T>C (p.Cys2190Arg)
|
|
|
NM_000138.5(FBN1):c.6568T>G (p.Cys2190Gly)
|
|
|
NM_000138.5(FBN1):c.6569G>A (p.Cys2190Tyr)
|
|
|
NM_000138.5(FBN1):c.6569G>T (p.Cys2190Phe)
|
rs1566895262
|
|
NM_000138.5(FBN1):c.6575G>A (p.Cys2192Tyr)
|
rs2043050838
|
|
NM_000138.5(FBN1):c.6576C>A (p.Cys2192Ter)
|
|
|
NM_000138.5(FBN1):c.6576C>G (p.Cys2192Trp)
|
rs369058466
|
|
NM_000138.5(FBN1):c.657C>A (p.His219Gln)
|
|
|
NM_000138.5(FBN1):c.6582G>A (p.Glu2194=)
|
|
|
NM_000138.5(FBN1):c.6582G>T (p.Glu2194Asp)
|
rs2043050683
|
|
NM_000138.5(FBN1):c.6583G>A (p.Gly2195Arg)
|
rs886038976
|
|
NM_000138.5(FBN1):c.6583G>T (p.Gly2195Ter)
|
rs886038976
|
|
NM_000138.5(FBN1):c.6584G>T (p.Gly2195Val)
|
rs1597523768
|
|
NM_000138.5(FBN1):c.6586T>G (p.Phe2196Val)
|
rs2043050574
|
|
NM_000138.5(FBN1):c.658C>T (p.Pro220Ser)
|
|
|
NM_000138.5(FBN1):c.6590A>C (p.Glu2197Ala)
|
rs763165301
|
|
NM_000138.5(FBN1):c.6591G>A (p.Glu2197=)
|
|
|
NM_000138.5(FBN1):c.6591G>T (p.Glu2197Asp)
|
rs2141237031
|
|
NM_000138.5(FBN1):c.6600A>G (p.Pro2200=)
|
|
|
NM_000138.5(FBN1):c.6601A>C (p.Met2201Leu)
|
rs776823384
|
|
NM_000138.5(FBN1):c.6605T>A (p.Met2202Lys)
|
rs2043050244
|
|
NM_000138.5(FBN1):c.6605T>C (p.Met2202Thr)
|
|
|
NM_000138.5(FBN1):c.6609_6610del (p.Thr2203_Cys2204insTer)
|
rs1555395002
|
|
NM_000138.5(FBN1):c.660_661del (p.Pro220_Cys221insTer)
|
rs1555401679
|
|
NM_000138.5(FBN1):c.660del (p.Cys221fs)
|
rs727505269
|
|
NM_000138.5(FBN1):c.660dup (p.Cys221fs)
|
|
|
NM_000138.5(FBN1):c.6610T>C (p.Cys2204Arg)
|
rs1555395001
|
|
NM_000138.5(FBN1):c.6611G>C (p.Cys2204Ser)
|
|
|
NM_000138.5(FBN1):c.6611G>T (p.Cys2204Phe)
|
rs886039158
|
|
NM_000138.5(FBN1):c.6613dup (p.Glu2205fs)
|
rs1566895225
|
|
NM_000138.5(FBN1):c.6615A>G (p.Glu2205=)
|
|
|
NM_000138.5(FBN1):c.6616+17G>C
|
|
|
NM_000138.5(FBN1):c.6616+1G>A
|
rs1064793980
|
|
NM_000138.5(FBN1):c.6616+1G>C
|
rs1064793980
|
|
NM_000138.5(FBN1):c.6616+1G>T
|
rs1064793980
|
|
NM_000138.5(FBN1):c.6616+2T>C
|
rs2141236949
|
|
NM_000138.5(FBN1):c.6616+4C>T
|
|
|
NM_000138.5(FBN1):c.6616+7C>G
|
rs778659143
|
|
NM_000138.5(FBN1):c.6616G>A (p.Asp2206Asn)
|
rs1555394999
|
|
NM_000138.5(FBN1):c.6617-11_6617-9del
|
rs2141235287
|
|
NM_000138.5(FBN1):c.6617-12C>T
|
|
|
NM_000138.5(FBN1):c.6617-12_6630del
|
|
|
NM_000138.5(FBN1):c.6617-17A>T
|
|
|
NM_000138.5(FBN1):c.6617-1G>C
|
rs2141235271
|
|
NM_000138.5(FBN1):c.6617-1G>T
|
|
|
NM_000138.5(FBN1):c.6617-2A>C
|
rs1597522588
|
|
NM_000138.5(FBN1):c.6617-2A>G
|
|
|
NM_000138.5(FBN1):c.6617-7G>C
|
|
|
NM_000138.5(FBN1):c.6617-9_6617-8inv
|
|
|
NM_000138.5(FBN1):c.6617A>G (p.Asp2206Gly)
|
rs1597522584
|
|
NM_000138.5(FBN1):c.6617A>T (p.Asp2206Val)
|
rs1597522584
|
|
NM_000138.5(FBN1):c.661del (p.Cys221fs)
|
rs1597593695
|
|
NM_000138.5(FBN1):c.6623_6627del (p.Asn2208fs)
|
rs1597522572
|
|
NM_000138.5(FBN1):c.6623dup (p.Asn2208fs)
|
|
|
NM_000138.5(FBN1):c.6625del (p.Glu2209fs)
|
rs2141235258
|
|
NM_000138.5(FBN1):c.6626A>C (p.Glu2209Ala)
|
rs1060501072
|
|
NM_000138.5(FBN1):c.6628T>A (p.Cys2210Ser)
|
rs794728253
|
|
NM_000138.5(FBN1):c.6629G>A (p.Cys2210Tyr)
|
rs2141235242
|
|
NM_000138.5(FBN1):c.6629_6639dup (p.Pro2214fs)
|
|
|
NM_000138.5(FBN1):c.6630T>G (p.Cys2210Trp)
|
rs397515836
|
|
NM_000138.5(FBN1):c.6631G>T (p.Ala2211Ser)
|
rs1407213479
|
|
NM_000138.5(FBN1):c.6634C>T (p.Gln2212Ter)
|
rs1597522553
|
|
NM_000138.5(FBN1):c.6636G>A (p.Gln2212=)
|
rs2141235218
|
|
NM_000138.5(FBN1):c.663_664del (p.Cys221_Glu222delinsTer)
|
rs2044025276
|
|
NM_000138.5(FBN1):c.6640C>G (p.Pro2214Ala)
|
rs1375370990
|
|
NM_000138.5(FBN1):c.6643C>A (p.Leu2215Met)
|
rs921997271
|
|
NM_000138.5(FBN1):c.6643C>T (p.Leu2215=)
|
rs921997271
|
|
NM_000138.5(FBN1):c.6645del (p.Leu2216fs)
|
rs1555394928
|
|
NM_000138.5(FBN1):c.6648C>A (p.Leu2216=)
|
rs755861623
|
|
NM_000138.5(FBN1):c.6648C>G (p.Leu2216=)
|
|
|
NM_000138.5(FBN1):c.6650G>A (p.Cys2217Tyr)
|
rs794728254
|
|
NM_000138.5(FBN1):c.6650G>C (p.Cys2217Ser)
|
|
|
NM_000138.5(FBN1):c.6655T>G (p.Phe2219Val)
|
rs2043035646
|
|
NM_000138.5(FBN1):c.6656T>C (p.Phe2219Ser)
|
rs397515837
|
|
NM_000138.5(FBN1):c.6656dup (p.Arg2220fs)
|
rs1555394925
|
|
NM_000138.5(FBN1):c.6658C>T (p.Arg2220Ter)
|
rs113001196
|
|
NM_000138.5(FBN1):c.6659G>C (p.Arg2220Pro)
|
rs780651466
|
|
NM_000138.5(FBN1):c.6661T>C (p.Cys2221Arg)
|
rs113543334
|
|
NM_000138.5(FBN1):c.6661T>G (p.Cys2221Gly)
|
|
|
NM_000138.5(FBN1):c.6662G>A (p.Cys2221Tyr)
|
rs137854460
|
|
NM_000138.5(FBN1):c.6662G>C (p.Cys2221Ser)
|
rs137854460
|
|
NM_000138.5(FBN1):c.6663T>G (p.Cys2221Trp)
|
rs2141235147
|
|
NM_000138.5(FBN1):c.6664G>C (p.Val2222Leu)
|
rs1555394920
|
|
NM_000138.5(FBN1):c.6667A>C (p.Asn2223His)
|
rs1555394919
|
|
NM_000138.5(FBN1):c.6670_6671del (p.Thr2224fs)
|
rs1597522485
|
|
NM_000138.5(FBN1):c.6670dup (p.Thr2224fs)
|
|
|
NM_000138.5(FBN1):c.6673del (p.Tyr2225fs)
|
rs2141235124
|
|
NM_000138.5(FBN1):c.6675T>G (p.Tyr2225Ter)
|
rs1260533788
|
|
NM_000138.5(FBN1):c.6676G>A (p.Gly2226Arg)
|
rs2141235108
|
|
NM_000138.5(FBN1):c.6677G>A (p.Gly2226Glu)
|
|
|
NM_000138.5(FBN1):c.6677G>T (p.Gly2226Val)
|
|
|
NM_000138.5(FBN1):c.6678_6680del (p.Ser2227del)
|
rs1555394913
|
|
NM_000138.5(FBN1):c.6678del (p.Ser2227fs)
|
rs2141235101
|
|
NM_000138.5(FBN1):c.6679T>C (p.Ser2227Pro)
|
rs1555394915
|
|
NM_000138.5(FBN1):c.6681A>G (p.Ser2227=)
|
|
|
NM_000138.5(FBN1):c.6681A>T (p.Ser2227=)
|
rs363824
|
|
NM_000138.5(FBN1):c.6683A>G (p.Tyr2228Cys)
|
rs1555394908
|
|
NM_000138.5(FBN1):c.6687A>G (p.Glu2229=)
|
|
|
NM_000138.5(FBN1):c.6688T>C (p.Cys2230Arg)
|
rs1555394906
|
|
NM_000138.5(FBN1):c.6689G>A (p.Cys2230Tyr)
|
rs1555394904
|
|
NM_000138.5(FBN1):c.6693del (p.Lys2231fs)
|
rs1555394901
|
|
NM_000138.5(FBN1):c.6694T>A (p.Cys2232Ser)
|
rs869025411
|
|
NM_000138.5(FBN1):c.6694T>C (p.Cys2232Arg)
|
rs869025411
|
|
NM_000138.5(FBN1):c.6694T>G (p.Cys2232Gly)
|
|
|
NM_000138.5(FBN1):c.6695G>A (p.Cys2232Tyr)
|
rs1060501054
|
|
NM_000138.5(FBN1):c.6695G>C (p.Cys2232Ser)
|
rs1060501054
|
|
NM_000138.5(FBN1):c.6697C>T (p.Pro2233Ser)
|
rs794728255
|
|
NM_000138.5(FBN1):c.6698C>A (p.Pro2233His)
|
rs1566894783
|
|
NM_000138.5(FBN1):c.6698C>T (p.Pro2233Leu)
|
rs1566894783
|
|
NM_000138.5(FBN1):c.6699del (p.Val2234fs)
|
rs1597522415
|
|
NM_000138.5(FBN1):c.669G>A (p.Met223Ile)
|
rs910928261
|
|
NM_000138.5(FBN1):c.6701dup (p.Tyr2236fs)
|
rs1597522390
|
|
NM_000138.5(FBN1):c.6704del (p.Gly2235fs)
|
rs193922226
|
|
NM_000138.5(FBN1):c.6705A>G (p.Gly2235=)
|
|
|
NM_000138.5(FBN1):c.6705del (p.Tyr2236fs)
|
rs1555394900
|
|
NM_000138.5(FBN1):c.6707A>T (p.Tyr2236Phe)
|
rs368439899
|
|
NM_000138.5(FBN1):c.670T>C (p.Cys224Arg)
|
rs1555401676
|
|
NM_000138.5(FBN1):c.670del (p.Cys224fs)
|
|
|
NM_000138.5(FBN1):c.6711G>A (p.Val2237=)
|
|
|
NM_000138.5(FBN1):c.6711G>T (p.Val2237=)
|
rs760867972
|
|
NM_000138.5(FBN1):c.6718G>T (p.Glu2240Ter)
|
|
|
NM_000138.5(FBN1):c.6718_6719del (p.Glu2240fs)
|
rs2043034865
|
|
NM_000138.5(FBN1):c.671G>A (p.Cys224Tyr)
|
rs1566922396
|
|
NM_000138.5(FBN1):c.6721G>C (p.Asp2241His)
|
|
|
NM_000138.5(FBN1):c.6728_6737del (p.Arg2243fs)
|
rs2141234945
|
|
NM_000138.5(FBN1):c.6730A>T (p.Met2244Leu)
|
|
|
NM_000138.5(FBN1):c.6734G>A (p.Cys2245Tyr)
|
rs2043034575
|
|
NM_000138.5(FBN1):c.6735C>A (p.Cys2245Ter)
|
rs2043034543
|
|
NM_000138.5(FBN1):c.6739+11G>A
|
|
|
NM_000138.5(FBN1):c.6739+13G>A
|
|
|
NM_000138.5(FBN1):c.6739+16C>T
|
|
|
NM_000138.5(FBN1):c.6739+1G>A
|
rs869025419
|
|
NM_000138.5(FBN1):c.6739+1G>C
|
rs869025419
|
|
NM_000138.5(FBN1):c.6739+1G>T
|
|
|
NM_000138.5(FBN1):c.6739+2T>A
|
rs730880107
|
|
NM_000138.5(FBN1):c.6739+3G>A
|
|
|
NM_000138.5(FBN1):c.6739+4A>G
|
|
|
NM_000138.5(FBN1):c.673C>G (p.Pro225Ala)
|
rs2044025163
|
|
NM_000138.5(FBN1):c.673C>T (p.Pro225Ser)
|
rs2044025163
|
|
NM_000138.5(FBN1):c.6740-10T>A
|
rs1456822662
|
|
NM_000138.5(FBN1):c.6740-10T>G
|
rs1456822662
|
|
NM_000138.5(FBN1):c.6740-11A>T
|
|
|
NM_000138.5(FBN1):c.6740-13A>C
|
|
|
NM_000138.5(FBN1):c.6740-17T>C
|
|
|
NM_000138.5(FBN1):c.6740-19G>C
|
|
|
NM_000138.5(FBN1):c.6740-1G>C
|
|
|
NM_000138.5(FBN1):c.6740-1G>T
|
rs1555394781
|
|
NM_000138.5(FBN1):c.6740-21_6740-18delinsTTTTGTCATTTTTTGTACATTTTTGTCATTTT
|
|
|
NM_000138.5(FBN1):c.6740-2A>G
|
rs2141232714
|
|
NM_000138.5(FBN1):c.6740-2del
|
rs1555394783
|
|
NM_000138.5(FBN1):c.6740-3C>G
|
rs1566894334
|
|
NM_000138.5(FBN1):c.6740A>G (p.Asp2247Gly)
|
rs1060501032
|
|
NM_000138.5(FBN1):c.6744_6746del (p.Glu2248del)
|
|
|
NM_000138.5(FBN1):c.6746A>G (p.Asp2249Gly)
|
rs397515838
|
|
NM_000138.5(FBN1):c.6748G>A (p.Glu2250Lys)
|
rs1597520789
|
|
NM_000138.5(FBN1):c.6749A>T (p.Glu2250Val)
|
rs2043018196
|
|
NM_000138.5(FBN1):c.6750G>A (p.Glu2250=)
|
rs887646369
|
|
NM_000138.5(FBN1):c.6751T>A (p.Cys2251Ser)
|
rs112836174
|
|
NM_000138.5(FBN1):c.6751T>C (p.Cys2251Arg)
|
rs112836174
|
|
NM_000138.5(FBN1):c.6751del (p.Cys2251fs)
|
rs1597520781
|
|
NM_000138.5(FBN1):c.6752G>A (p.Cys2251Tyr)
|
rs794728256
|
|
NM_000138.5(FBN1):c.6752G>T (p.Cys2251Phe)
|
rs794728256
|
|
NM_000138.5(FBN1):c.6753T>G (p.Cys2251Trp)
|
|
|
NM_000138.5(FBN1):c.6757G>A (p.Glu2253Lys)
|
rs1245476075
|
|
NM_000138.5(FBN1):c.6757G>T (p.Glu2253Ter)
|
rs1245476075
|
|
NM_000138.5(FBN1):c.6761del (p.Gly2254fs)
|
rs1555394780
|
|
NM_000138.5(FBN1):c.6769_6770dup (p.Asp2257fs)
|
rs2141232648
|
|
NM_000138.5(FBN1):c.6769_6773del (p.Asp2257fs)
|
rs2141232639
|
|
NM_000138.5(FBN1):c.6770_6771dup (p.Cys2258fs)
|
rs1555394779
|
|
NM_000138.5(FBN1):c.6772T>C (p.Cys2258Arg)
|
rs1057520617
|
|
NM_000138.5(FBN1):c.6773G>C (p.Cys2258Ser)
|
|
|
NM_000138.5(FBN1):c.6773_6774del (p.Cys2258fs)
|
rs1555394777
|
|
NM_000138.5(FBN1):c.6778G>A (p.Glu2260Lys)
|
|
|
NM_000138.5(FBN1):c.6780_6783del (p.Glu2260fs)
|
|
|
NM_000138.5(FBN1):c.6783_6784insT (p.Gln2262fs)
|
rs2043017815
|
|
NM_000138.5(FBN1):c.6783dup (p.Gln2262fs)
|
rs2141232621
|
|
NM_000138.5(FBN1):c.6784C>T (p.Gln2262Ter)
|
rs1060501023
|
|
NM_000138.5(FBN1):c.6786A>G (p.Gln2262=)
|
|
|
NM_000138.5(FBN1):c.6786_6787del (p.Gln2262fs)
|
rs1555394776
|
|
NM_000138.5(FBN1):c.6790G>T (p.Glu2264Ter)
|
|
|
NM_000138.5(FBN1):c.6790del (p.Glu2264fs)
|
rs1555394775
|
|
NM_000138.5(FBN1):c.6793T>A (p.Cys2265Ser)
|
rs1057522272
|
|
NM_000138.5(FBN1):c.6793T>G (p.Cys2265Gly)
|
rs1057522272
|
|
NM_000138.5(FBN1):c.6793_6800dup (p.Leu2268fs)
|
rs193922227
|
|
NM_000138.5(FBN1):c.6794G>A (p.Cys2265Tyr)
|
rs1057520679
|
|
NM_000138.5(FBN1):c.679C>T (p.Gln227Ter)
|
rs2044025100
|
|
NM_000138.5(FBN1):c.6800del (p.Asn2267fs)
|
rs1566894288
|
|
NM_000138.5(FBN1):c.6801C>A (p.Asn2267Lys)
|
rs886051245
|
|
NM_000138.5(FBN1):c.6801C>G (p.Asn2267Lys)
|
rs886051245
|
|
NM_000138.5(FBN1):c.6801C>T (p.Asn2267=)
|
rs886051245
|
|
NM_000138.5(FBN1):c.6804C>T (p.Leu2268=)
|
|
|
NM_000138.5(FBN1):c.6804del (p.Ile2269fs)
|
rs1597520683
|
|
NM_000138.5(FBN1):c.6806T>A (p.Ile2269Asn)
|
rs193922228
|
|
NM_000138.5(FBN1):c.6808G>T (p.Gly2270Cys)
|
rs1060501025
|
|
NM_000138.5(FBN1):c.6809G>T (p.Gly2270Val)
|
rs1566894274
|
|
NM_000138.5(FBN1):c.680_690del (p.Gln227fs)
|
rs1555401671
|
|
NM_000138.5(FBN1):c.6815A>G (p.Tyr2272Cys)
|
rs2141232534
|
|
NM_000138.5(FBN1):c.6817A>G (p.Met2273Val)
|
|
|
NM_000138.5(FBN1):c.681G>A (p.Gln227=)
|
rs2141358095
|
|
NM_000138.5(FBN1):c.6820T>C (p.Cys2274Arg)
|
rs869025412
|
|
NM_000138.5(FBN1):c.6826T>G (p.Cys2276Gly)
|
rs2043017257
|
|
NM_000138.5(FBN1):c.6828T>G (p.Cys2276Trp)
|
rs1597520625
|
|
NM_000138.5(FBN1):c.682C>T (p.Pro228Ser)
|
|
|
NM_000138.5(FBN1):c.6830G>A (p.Gly2277Glu)
|
rs2043017212
|
|
NM_000138.5(FBN1):c.6832C>G (p.Pro2278Ala)
|
rs363835
|
|
NM_000138.5(FBN1):c.6832C>T (p.Pro2278Ser)
|
rs363835
|
|
NM_000138.5(FBN1):c.6834del (p.Tyr2280fs)
|
rs1597520619
|
|
NM_000138.5(FBN1):c.6836G>T (p.Gly2279Val)
|
rs2043017049
|
|
NM_000138.5(FBN1):c.6837G>C (p.Gly2279=)
|
|
|
NM_000138.5(FBN1):c.6837del (p.Tyr2280fs)
|
rs2043017030
|
|
NM_000138.5(FBN1):c.6838dup (p.Tyr2280fs)
|
|
|
NM_000138.5(FBN1):c.6839A>G (p.Tyr2280Cys)
|
|
|
NM_000138.5(FBN1):c.6841C>T (p.Gln2281Ter)
|
rs397515840
|
|
NM_000138.5(FBN1):c.6854A>G (p.Asp2285Gly)
|
rs1160071679
|
|
NM_000138.5(FBN1):c.6856G>T (p.Gly2286Ter)
|
rs1555394756
|
|
NM_000138.5(FBN1):c.6857G>A (p.Gly2286Glu)
|
rs1455580241
|
|
NM_000138.5(FBN1):c.6858A>G (p.Gly2286=)
|
|
|
NM_000138.5(FBN1):c.6859G>A (p.Glu2287Lys)
|
rs551736585
|
|
NM_000138.5(FBN1):c.6862G>A (p.Gly2288Ser)
|
|
|
NM_000138.5(FBN1):c.6865T>A (p.Cys2289Ser)
|
|
|
NM_000138.5(FBN1):c.6865T>C (p.Cys2289Arg)
|
rs869025413
|
|
NM_000138.5(FBN1):c.6866G>A (p.Cys2289Tyr)
|
rs1566894230
|
|
NM_000138.5(FBN1):c.6866G>C (p.Cys2289Ser)
|
rs1566894230
|
|
NM_000138.5(FBN1):c.6869del (p.Val2290fs)
|
rs2141232407
|
|
NM_000138.5(FBN1):c.6871+10T>C
|
rs745421627
|
|
NM_000138.5(FBN1):c.6871+16T>C
|
|
|
NM_000138.5(FBN1):c.6871+1G>A
|
rs1555394753
|
|
NM_000138.5(FBN1):c.6871+1G>T
|
rs1555394753
|
|
NM_000138.5(FBN1):c.6871+3A>T
|
rs1555394752
|
|
NM_000138.5(FBN1):c.6871+7G>C
|
rs1597520513
|
|
NM_000138.5(FBN1):c.6871+8G>C
|
|
|
NM_000138.5(FBN1):c.6871+8G>T
|
|
|
NM_000138.5(FBN1):c.6871+9A>G
|
|
|
NM_000138.5(FBN1):c.6872-14A>G
|
rs1064793119
|
|
NM_000138.5(FBN1):c.6872-1G>T
|
rs1597518951
|
|
NM_000138.5(FBN1):c.6872-1_6881dup
|
rs2042999380
|
|
NM_000138.5(FBN1):c.6872-3C>G
|
rs2042999551
|
|
NM_000138.5(FBN1):c.6872-7C>T
|
|
|
NM_000138.5(FBN1):c.6872-961A>G
|
rs1597519658
|
|
NM_000138.5(FBN1):c.6872-961A>T
|
|
|
NM_000138.5(FBN1):c.6872-9A>G
|
rs794728259
|
|
NM_000138.5(FBN1):c.6872A>G (p.Asp2291Gly)
|
rs370283154
|
|
NM_000138.5(FBN1):c.6879T>G (p.Asn2293Lys)
|
|
|
NM_000138.5(FBN1):c.687C>T (p.His229=)
|
rs1391600366
|
|
NM_000138.5(FBN1):c.6880G>A (p.Glu2294Lys)
|
|
|
NM_000138.5(FBN1):c.6881A>C (p.Glu2294Ala)
|
rs1555394647
|
|
NM_000138.5(FBN1):c.6883T>C (p.Cys2295Arg)
|
rs1555394644
|
|
NM_000138.5(FBN1):c.6883T>G (p.Cys2295Gly)
|
rs1555394644
|
|
NM_000138.5(FBN1):c.6884G>A (p.Cys2295Tyr)
|
rs886038949
|
|
NM_000138.5(FBN1):c.6885T>G (p.Cys2295Trp)
|
rs1480832655
|
|
NM_000138.5(FBN1):c.6886C>T (p.Gln2296Ter)
|
rs727504410
|
|
NM_000138.5(FBN1):c.6886del (p.Gln2296fs)
|
rs1555394641
|
|
NM_000138.5(FBN1):c.6888G>T (p.Gln2296His)
|
rs363830
|
|
NM_000138.5(FBN1):c.6890C>G (p.Thr2297Arg)
|
|
|
NM_000138.5(FBN1):c.6896del (p.Pro2299fs)
|
rs2141230021
|
|
NM_000138.5(FBN1):c.6900G>A (p.Gly2300=)
|
|
|
NM_000138.5(FBN1):c.6901A>T (p.Ile2301Phe)
|
|
|
NM_000138.5(FBN1):c.6905G>A (p.Cys2302Tyr)
|
rs2042998789
|
|
NM_000138.5(FBN1):c.6906T>G (p.Cys2302Trp)
|
rs1555394634
|
|
NM_000138.5(FBN1):c.6906_6907del (p.Cys2302_Glu2303delinsTer)
|
rs2141229990
|
|
NM_000138.5(FBN1):c.6911A>C (p.Asn2304Thr)
|
|
|
NM_000138.5(FBN1):c.6915G>C (p.Gly2305=)
|
|
|
NM_000138.5(FBN1):c.6916_6934del (p.Arg2306fs)
|
rs1555394630
|
|
NM_000138.5(FBN1):c.6919T>C (p.Cys2307Arg)
|
|
|
NM_000138.5(FBN1):c.691del (p.Cys231fs)
|
|
|
NM_000138.5(FBN1):c.6920G>A (p.Cys2307Tyr)
|
rs137854457
|
|
NM_000138.5(FBN1):c.6920G>C (p.Cys2307Ser)
|
rs137854457
|
|
NM_000138.5(FBN1):c.6925A>T (p.Asn2309Tyr)
|
rs2141229967
|
|
NM_000138.5(FBN1):c.6927del (p.Asn2309fs)
|
rs1555394633
|
|
NM_000138.5(FBN1):c.6931del (p.Arg2311fs)
|
rs2141229950
|
|
NM_000138.5(FBN1):c.6932dup (p.Gly2312fs)
|
rs1555394631
|
|
NM_000138.5(FBN1):c.6938G>T (p.Ser2313Ile)
|
|
|
NM_000138.5(FBN1):c.6940_6943dup (p.Thr2315fs)
|
rs1566893738
|
|
NM_000138.5(FBN1):c.6947G>A (p.Cys2316Tyr)
|
rs1555394629
|
|
NM_000138.5(FBN1):c.6947G>T (p.Cys2316Phe)
|
rs1555394629
|
|
NM_000138.5(FBN1):c.6948T>A (p.Cys2316Ter)
|
rs1060501016
|
|
NM_000138.5(FBN1):c.6949G>T (p.Glu2317Ter)
|
rs1555394628
|
|
NM_000138.5(FBN1):c.694C>T (p.Arg232Cys)
|
|
|
NM_000138.5(FBN1):c.6951del (p.Glu2317fs)
|
rs2141229903
|
|
NM_000138.5(FBN1):c.6952T>C (p.Cys2318Arg)
|
rs111588631
|
|
NM_000138.5(FBN1):c.6953G>A (p.Cys2318Tyr)
|
rs1555394626
|
|
NM_000138.5(FBN1):c.6954T>C (p.Cys2318=)
|
|
|
NM_000138.5(FBN1):c.6954dup (p.Asn2319Ter)
|
rs1597518796
|
|
NM_000138.5(FBN1):c.6957T>C (p.Asn2319=)
|
rs1290478839
|
|
NM_000138.5(FBN1):c.6959A>G (p.Asp2320Gly)
|
rs794728261
|
|
NM_000138.5(FBN1):c.6959A>T (p.Asp2320Val)
|
rs794728261
|
|
NM_000138.5(FBN1):c.6963del (p.Phe2322fs)
|
rs1060501051
|
|
NM_000138.5(FBN1):c.6964delinsGG (p.Phe2322fs)
|
|
|
NM_000138.5(FBN1):c.6966del (p.Phe2322fs)
|
rs1555394623
|
|
NM_000138.5(FBN1):c.6972C>G (p.Ala2324=)
|
rs1597518738
|
|
NM_000138.5(FBN1):c.697C>A (p.Arg233Ser)
|
rs397515841
|
|
NM_000138.5(FBN1):c.697C>T (p.Arg233Cys)
|
rs397515841
|
|
NM_000138.5(FBN1):c.6987C>T (p.Asp2329=)
|
rs363831
|
|
NM_000138.5(FBN1):c.6992G>T (p.Cys2331Phe)
|
rs397515842
|
|
NM_000138.5(FBN1):c.6992_6997+6del
|
rs2141229796
|
|
NM_000138.5(FBN1):c.6993C>A (p.Cys2331Ter)
|
rs534811966
|
|
NM_000138.5(FBN1):c.6994C>T (p.Leu2332Phe)
|
|
|
NM_000138.5(FBN1):c.6996del (p.Asp2333fs)
|
rs2141229819
|
|
NM_000138.5(FBN1):c.6997+10G>A
|
|
|
NM_000138.5(FBN1):c.6997+17_6997+18delinsGA
|
|
|
NM_000138.5(FBN1):c.6997+17_6997+18delinsGT
|
rs2141229764
|
|
NM_000138.5(FBN1):c.6997+18C>T
|
rs148116316
|
|
NM_000138.5(FBN1):c.6997+19G>A
|
rs767445722
|
|
NM_000138.5(FBN1):c.6997+1G>A
|
rs2042997306
|
|
NM_000138.5(FBN1):c.6997+1G>C
|
rs2042997306
|
|
NM_000138.5(FBN1):c.6997+20C>T
|
|
|
NM_000138.5(FBN1):c.6997+4A>G
|
rs727503055
|
|
NM_000138.5(FBN1):c.6997+5G>A
|
rs2042997205
|
|
NM_000138.5(FBN1):c.6997+5G>T
|
rs2042997205
|
|
NM_000138.5(FBN1):c.6997+5dup
|
|
|
NM_000138.5(FBN1):c.6997+7A>G
|
|
|
NM_000138.5(FBN1):c.6997+8C>T
|
|
|
NM_000138.5(FBN1):c.6998-13A>G
|
rs2042989627
|
|
NM_000138.5(FBN1):c.6998-17T>C
|
|
|
NM_000138.5(FBN1):c.6998-1G>A
|
|
|
NM_000138.5(FBN1):c.6998-22_6998-5del
|
|
|
NM_000138.5(FBN1):c.6998-2A>T
|
rs1555394585
|
|
NM_000138.5(FBN1):c.6998-40del
|
rs193922229
|
|
NM_000138.5(FBN1):c.7003C>A (p.Arg2335=)
|
|
|
NM_000138.5(FBN1):c.7003C>G (p.Arg2335Gly)
|
rs794728262
|
|
NM_000138.5(FBN1):c.7003C>T (p.Arg2335Trp)
|
rs794728262
|
|
NM_000138.5(FBN1):c.7004G>A (p.Arg2335Gln)
|
rs761248433
|
|
NM_000138.5(FBN1):c.700G>T (p.Gly234Cys)
|
|
|
NM_000138.5(FBN1):c.7010G>C (p.Gly2337Ala)
|
|
|
NM_000138.5(FBN1):c.7013A>G (p.Tyr2338Cys)
|
rs2141229151
|
|
NM_000138.5(FBN1):c.7014C>G (p.Tyr2338Ter)
|
rs1555394582
|
|
NM_000138.5(FBN1):c.7014C>T (p.Tyr2338=)
|
rs1555394582
|
|
NM_000138.5(FBN1):c.7015T>C (p.Cys2339Arg)
|
rs1555394581
|
|
NM_000138.5(FBN1):c.7016G>A (p.Cys2339Tyr)
|
rs1555394580
|
|
NM_000138.5(FBN1):c.7016_7020dup (p.Thr2341fs)
|
rs2141229138
|
|
NM_000138.5(FBN1):c.701G>A (p.Gly234Asp)
|
rs1555401670
|
|
NM_000138.5(FBN1):c.7022_7023del (p.Thr2341fs)
|
rs1555394579
|
|
NM_000138.5(FBN1):c.7022_7039del (p.Thr2341_Asn2346del)
|
|
|
NM_000138.5(FBN1):c.7027G>T (p.Val2343Leu)
|
|
|
NM_000138.5(FBN1):c.702C>T (p.Gly234=)
|
|
|
NM_000138.5(FBN1):c.7032A>G (p.Leu2344=)
|
rs2141229116
|
|
NM_000138.5(FBN1):c.7032_7054del (p.Asn2346fs)
|
rs1597518038
|
|
NM_000138.5(FBN1):c.7037del (p.Asn2346fs)
|
|
|
NM_000138.5(FBN1):c.7039A>T (p.Met2347Leu)
|
rs1284375434
|
|
NM_000138.5(FBN1):c.7039_7040del (p.Met2347fs)
|
rs794728319
|
|
NM_000138.5(FBN1):c.7042T>C (p.Cys2348Arg)
|
rs1555394576
|
|
NM_000138.5(FBN1):c.7043_7044del (p.Cys2348fs)
|
rs2141229101
|
|
NM_000138.5(FBN1):c.7048A>G (p.Ile2350Val)
|
rs794728263
|
|
NM_000138.5(FBN1):c.7050C>T (p.Ile2350=)
|
rs772287755
|
|
NM_000138.5(FBN1):c.7051G>C (p.Gly2351Arg)
|
|
|
NM_000138.5(FBN1):c.7054del (p.Ser2352fs)
|
|
|
NM_000138.5(FBN1):c.7058del (p.Ser2353fs)
|
rs1555394574
|
|
NM_000138.5(FBN1):c.7064G>A (p.Arg2355Lys)
|
rs376372763
|
|
NM_000138.5(FBN1):c.7071del (p.Val2358fs)
|
rs1555394571
|
|
NM_000138.5(FBN1):c.7074C>T (p.Val2358=)
|
|
|
NM_000138.5(FBN1):c.7078A>C (p.Lys2360Gln)
|
|
|
NM_000138.5(FBN1):c.7080dup (p.Ser2361fs)
|
rs1597517970
|
|
NM_000138.5(FBN1):c.7082C>A (p.Ser2361Ter)
|
rs397515844
|
|
NM_000138.5(FBN1):c.7082C>G (p.Ser2361Trp)
|
rs397515844
|
|
NM_000138.5(FBN1):c.7084G>T (p.Glu2362Ter)
|
rs1555394570
|
|
NM_000138.5(FBN1):c.7087T>G (p.Cys2363Gly)
|
rs1597517935
|
|
NM_000138.5(FBN1):c.7088G>T (p.Cys2363Phe)
|
rs2042988482
|
|
NM_000138.5(FBN1):c.7089CTG[1] (p.Cys2365del)
|
|
|
NM_000138.5(FBN1):c.7091G>C (p.Cys2364Ser)
|
|
|
NM_000138.5(FBN1):c.7092C>A (p.Cys2364Ter)
|
rs1555394569
|
|
NM_000138.5(FBN1):c.7094G>A (p.Cys2365Tyr)
|
rs397515845
|
|
NM_000138.5(FBN1):c.7096G>A (p.Asp2366Asn)
|
rs1259235311
|
|
NM_000138.5(FBN1):c.7099G>T (p.Gly2367Ter)
|
rs368978109
|
|
NM_000138.5(FBN1):c.7109G>A (p.Gly2370Asp)
|
|
|
NM_000138.5(FBN1):c.7109del (p.Gly2370fs)
|
rs869025422
|
|
NM_000138.5(FBN1):c.710del (p.Pro237fs)
|
|
|
NM_000138.5(FBN1):c.7111T>C (p.Trp2371Arg)
|
rs794728264
|
|
NM_000138.5(FBN1):c.7112G>A (p.Trp2371Ter)
|
rs1555394567
|
|
NM_000138.5(FBN1):c.7113G>A (p.Trp2371Ter)
|
rs886039063
|
|
NM_000138.5(FBN1):c.7114G>A (p.Gly2372Ser)
|
rs2042988137
|
|
NM_000138.5(FBN1):c.7115G>T (p.Gly2372Val)
|
rs112369155
|
|
NM_000138.5(FBN1):c.7116dup (p.Pro2373fs)
|
rs2141228932
|
|
NM_000138.5(FBN1):c.7117C>T (p.Pro2373Ser)
|
|
|
NM_000138.5(FBN1):c.7119_7120insGGAC (p.His2374fs)
|
rs1597517858
|
|
NM_000138.5(FBN1):c.7121A>G (p.His2374Arg)
|
rs1060501018
|
|
NM_000138.5(FBN1):c.7125T>A (p.Cys2375Ter)
|
rs794728265
|
|
NM_000138.5(FBN1):c.7129A>G (p.Ile2377Val)
|
|
|
NM_000138.5(FBN1):c.7134C>G (p.Cys2378Trp)
|
rs1555394562
|
|
NM_000138.5(FBN1):c.7139del (p.Phe2380fs)
|
rs1555394561
|
|
NM_000138.5(FBN1):c.7139dup (p.Gln2381fs)
|
rs1555394561
|
|
NM_000138.5(FBN1):c.7141C>T (p.Gln2381Ter)
|
rs869025414
|
|
NM_000138.5(FBN1):c.7146G>T (p.Gly2382=)
|
|
|
NM_000138.5(FBN1):c.7149T>A (p.Thr2383=)
|
|
|
NM_000138.5(FBN1):c.7149T>G (p.Thr2383=)
|
|
|
NM_000138.5(FBN1):c.7151_7152del (p.Val2384fs)
|
rs869025423
|
|
NM_000138.5(FBN1):c.7154C>T (p.Ala2385Val)
|
|
|
NM_000138.5(FBN1):c.7162A>G (p.Lys2388Glu)
|
rs1566893398
|
|
NM_000138.5(FBN1):c.7167_7168del (p.Cys2390fs)
|
rs397515846
|
|
NM_000138.5(FBN1):c.7168T>A (p.Cys2390Ser)
|
rs397515847
|
|
NM_000138.5(FBN1):c.7168T>C (p.Cys2390Arg)
|
rs397515847
|
|
NM_000138.5(FBN1):c.7169G>A (p.Cys2390Tyr)
|
rs864622754
|
|
NM_000138.5(FBN1):c.716T>C (p.Ile239Thr)
|
|
|
NM_000138.5(FBN1):c.7172C>G (p.Pro2391Arg)
|
|
|
NM_000138.5(FBN1):c.7175A>G (p.His2392Arg)
|
|
|
NM_000138.5(FBN1):c.7176T>C (p.His2392=)
|
|
|
NM_000138.5(FBN1):c.7178G>C (p.Gly2393Ala)
|
|
|
NM_000138.5(FBN1):c.7178dup (p.Arg2394fs)
|
rs1597517771
|
|
NM_000138.5(FBN1):c.7180C>T (p.Arg2394Ter)
|
rs397515848
|
|
NM_000138.5(FBN1):c.7184G>A (p.Gly2395Glu)
|
|
|
NM_000138.5(FBN1):c.7184G>T (p.Gly2395Val)
|
rs397515849
|
|
NM_000138.5(FBN1):c.718C>T (p.Arg240Cys)
|
rs137854480
|
|
NM_000138.5(FBN1):c.7191dup (p.Thr2398fs)
|
rs1555394559
|
|
NM_000138.5(FBN1):c.7193C>T (p.Thr2398Ile)
|
rs1169351376
|
|
NM_000138.5(FBN1):c.719G>A (p.Arg240His)
|
rs768744583
|
|
NM_000138.5(FBN1):c.7201G>T (p.Ala2401Ser)
|
rs771260695
|
|
NM_000138.5(FBN1):c.7204+15G>A
|
|
|
NM_000138.5(FBN1):c.7204+1G>A
|
rs1555394557
|
|
NM_000138.5(FBN1):c.7204+1G>T
|
rs1555394557
|
|
NM_000138.5(FBN1):c.7204+20A>G
|
|
|
NM_000138.5(FBN1):c.7204+2T>C
|
rs1555394556
|
|
NM_000138.5(FBN1):c.7204+3A>G
|
rs1057518076
|
|
NM_000138.5(FBN1):c.7204+3A>T
|
|
|
NM_000138.5(FBN1):c.7204G>A (p.Asp2402Asn)
|
rs1057524757
|
|
NM_000138.5(FBN1):c.7205-10T>A
|
|
|
NM_000138.5(FBN1):c.7205-18A>G
|
rs1555394451
|
|
NM_000138.5(FBN1):c.7205-18A>T
|
|
|
NM_000138.5(FBN1):c.7205-1G>A
|
rs794728266
|
|
NM_000138.5(FBN1):c.7205-1G>C
|
rs794728266
|
|
NM_000138.5(FBN1):c.7205-2A>C
|
rs1555394450
|
|
NM_000138.5(FBN1):c.7205-2A>G
|
rs1555394450
|
|
NM_000138.5(FBN1):c.7208T>A (p.Ile2403Asn)
|
rs1555394449
|
|
NM_000138.5(FBN1):c.7212T>C (p.Asp2404=)
|
rs2141227085
|
|
NM_000138.5(FBN1):c.7216T>C (p.Cys2406Arg)
|
rs2042976167
|
|
NM_000138.5(FBN1):c.7217G>A (p.Cys2406Tyr)
|
rs1131691479
|
|
NM_000138.5(FBN1):c.7217_7226delinsTACAGA (p.Cys2406fs)
|
rs1597516501
|
|
NM_000138.5(FBN1):c.7221_7225del (p.Lys2407fs)
|
rs1597516509
|
|
NM_000138.5(FBN1):c.7227T>A (p.Ile2409=)
|
|
|
NM_000138.5(FBN1):c.7228_7232dup (p.Val2412fs)
|
rs1555394445
|
|
NM_000138.5(FBN1):c.7229A>C (p.His2410Pro)
|
rs193922230
|
|
NM_000138.5(FBN1):c.7235T>C (p.Val2412Ala)
|
rs1060501061
|
|
NM_000138.5(FBN1):c.7236T>C (p.Val2412=)
|
rs1306021418
|
|
NM_000138.5(FBN1):c.7238G>A (p.Cys2413Tyr)
|
rs1566892915
|
|
NM_000138.5(FBN1):c.7238G>C (p.Cys2413Ser)
|
rs1566892915
|
|
NM_000138.5(FBN1):c.7239C>T (p.Cys2413=)
|
rs2042975041
|
|
NM_000138.5(FBN1):c.723G>A (p.Thr241=)
|
rs757264206
|
|
NM_000138.5(FBN1):c.7240C>T (p.Arg2414Ter)
|
rs112550005
|
|
NM_000138.5(FBN1):c.7242A>C (p.Arg2414=)
|
|
|
NM_000138.5(FBN1):c.7244A>T (p.Asn2415Ile)
|
rs1566892910
|
|
NM_000138.5(FBN1):c.7244_7251del (p.Asn2415fs)
|
|
|
NM_000138.5(FBN1):c.7245del (p.Asn2415fs)
|
rs2141227006
|
|
NM_000138.5(FBN1):c.7246G>A (p.Gly2416Arg)
|
rs794728269
|
|
NM_000138.5(FBN1):c.7247G>T (p.Gly2416Val)
|
rs1555394442
|
|
NM_000138.5(FBN1):c.7249G>T (p.Glu2417Ter)
|
rs2042974889
|
|
NM_000138.5(FBN1):c.7251_7262del (p.Glu2417_Asn2420del)
|
|
|
NM_000138.5(FBN1):c.7251dup (p.Cys2418fs)
|
rs1566892906
|
|
NM_000138.5(FBN1):c.7252T>A (p.Cys2418Ser)
|
rs1555394441
|
|
NM_000138.5(FBN1):c.7252T>C (p.Cys2418Arg)
|
rs1555394441
|
|
NM_000138.5(FBN1):c.7253G>A (p.Cys2418Tyr)
|
rs794728270
|
|
NM_000138.5(FBN1):c.7258A>C (p.Asn2420His)
|
|
|
NM_000138.5(FBN1):c.7259A>G (p.Asn2420Ser)
|
rs2141226971
|
|
NM_000138.5(FBN1):c.7259del (p.Asn2420fs)
|
rs869025424
|
|
NM_000138.5(FBN1):c.726A>T (p.Gly242=)
|
|
|
NM_000138.5(FBN1):c.7271C>A (p.Ser2424Ter)
|
|
|
NM_000138.5(FBN1):c.7275T>C (p.Tyr2425=)
|
|
|
NM_000138.5(FBN1):c.7276C>T (p.His2426Tyr)
|
rs372369490
|
|
NM_000138.5(FBN1):c.7276_7278del (p.His2426del)
|
rs2141226930
|
|
NM_000138.5(FBN1):c.7276_7283del (p.His2426fs)
|
|
|
NM_000138.5(FBN1):c.7279T>C (p.Cys2427Arg)
|
rs1566892883
|
|
NM_000138.5(FBN1):c.7286G>A (p.Cys2429Tyr)
|
rs2141226916
|
|
NM_000138.5(FBN1):c.7286G>T (p.Cys2429Phe)
|
rs2141226916
|
|
NM_000138.5(FBN1):c.7287del (p.Ile2428_Cys2429insTer)
|
rs2042974444
|
|
NM_000138.5(FBN1):c.7295G>C (p.Gly2432Ala)
|
rs1266993955
|
|
NM_000138.5(FBN1):c.7298A>G (p.Tyr2433Cys)
|
rs1555394437
|
|
NM_000138.5(FBN1):c.7305A>G (p.Pro2435=)
|
rs2042974267
|
|
NM_000138.5(FBN1):c.7309A>G (p.Ile2437Val)
|
|
|
NM_000138.5(FBN1):c.7314del (p.Thr2440fs)
|
rs2141226866
|
|
NM_000138.5(FBN1):c.7317G>A (p.Gly2439=)
|
rs766871786
|
|
NM_000138.5(FBN1):c.7323del (p.Cys2442fs)
|
rs1555394436
|
|
NM_000138.5(FBN1):c.7324T>A (p.Cys2442Ser)
|
rs1555394435
|
|
NM_000138.5(FBN1):c.7325G>A (p.Cys2442Tyr)
|
rs1597516347
|
|
NM_000138.5(FBN1):c.7327G>A (p.Val2443Ile)
|
|
|
NM_000138.5(FBN1):c.7328T>C (p.Val2443Ala)
|
rs2141226842
|
|
NM_000138.5(FBN1):c.732T>A (p.Cys244Ter)
|
rs878853689
|
|
NM_000138.5(FBN1):c.7330+11A>G
|
|
|
NM_000138.5(FBN1):c.7330+17G>A
|
|
|
NM_000138.5(FBN1):c.7330+1G>T
|
|
|
NM_000138.5(FBN1):c.7330+3A>G
|
rs2042974020
|
|
NM_000138.5(FBN1):c.7330+3_7330+6del
|
rs1597516325
|
|
NM_000138.5(FBN1):c.7330G>T (p.Asp2444Tyr)
|
rs1555394434
|
|
NM_000138.5(FBN1):c.7331-16A>G
|
|
|
NM_000138.5(FBN1):c.7331-17T>C
|
rs2141226524
|
|
NM_000138.5(FBN1):c.7331-1G>A
|
|
|
NM_000138.5(FBN1):c.7331-1G>C
|
rs1555394412
|
|
NM_000138.5(FBN1):c.7331-1_7343dup
|
rs2042971987
|
|
NM_000138.5(FBN1):c.7331-2A>G
|
|
|
NM_000138.5(FBN1):c.7331A>G (p.Asp2444Gly)
|
rs1060501093
|
|
NM_000138.5(FBN1):c.7335G>A (p.Leu2445=)
|
|
|
NM_000138.5(FBN1):c.7339G>C (p.Glu2447Gln)
|
|
|
NM_000138.5(FBN1):c.733C>T (p.Gln245Ter)
|
rs1555401667
|
|
NM_000138.5(FBN1):c.7341G>A (p.Glu2447=)
|
rs1437889689
|
|
NM_000138.5(FBN1):c.7342T>C (p.Cys2448Arg)
|
rs1566892757
|
|
NM_000138.5(FBN1):c.7347_7358del (p.Asn2449_Pro2452del)
|
rs2042971876
|
|
NM_000138.5(FBN1):c.734A>C (p.Gln245Pro)
|
|
|
NM_000138.5(FBN1):c.736+17G>A
|
rs540588651
|
|
NM_000138.5(FBN1):c.7364G>A (p.Cys2455Tyr)
|
rs1555394409
|
|
NM_000138.5(FBN1):c.7365C>G (p.Cys2455Trp)
|
rs1555394408
|
|
NM_000138.5(FBN1):c.737-17C>G
|
|
|
NM_000138.5(FBN1):c.737-17_740del
|
rs1597591735
|
|
NM_000138.5(FBN1):c.737-19G>C
|
|
|
NM_000138.5(FBN1):c.737-19_737-16del
|
rs748812494
|
|
NM_000138.5(FBN1):c.737-23_737-20del
|
|
|
NM_000138.5(FBN1):c.737-25CT[2]
|
rs72041020
|
|
NM_000138.5(FBN1):c.737-9A>G
|
rs1060501020
|
|
NM_000138.5(FBN1):c.7371dup (p.Ile2458fs)
|
rs1555394407
|
|
NM_000138.5(FBN1):c.7372A>G (p.Ile2458Val)
|
|
|
NM_000138.5(FBN1):c.7376G>A (p.Cys2459Tyr)
|
rs1555394406
|
|
NM_000138.5(FBN1):c.7376G>T (p.Cys2459Phe)
|
rs1555394406
|
|
NM_000138.5(FBN1):c.7382A>G (p.Asn2461Ser)
|
rs1555394405
|
|
NM_000138.5(FBN1):c.7382dup (p.Asn2461fs)
|
rs2141226412
|
|
NM_000138.5(FBN1):c.7383C>G (p.Asn2461Lys)
|
rs754047254
|
|
NM_000138.5(FBN1):c.7383del (p.Asn2461fs)
|
rs2141226409
|
|
NM_000138.5(FBN1):c.7384A>C (p.Thr2462Pro)
|
rs371278936
|
|
NM_000138.5(FBN1):c.7384A>G (p.Thr2462Ala)
|
rs371278936
|
|
NM_000138.5(FBN1):c.7384A>T (p.Thr2462Ser)
|
|
|
NM_000138.5(FBN1):c.7387G>T (p.Glu2463Ter)
|
rs1566892735
|
|
NM_000138.5(FBN1):c.7394G>T (p.Ser2465Ile)
|
rs2141226387
|
|
NM_000138.5(FBN1):c.7397A>G (p.Tyr2466Cys)
|
rs1555394403
|
|
NM_000138.5(FBN1):c.7398C>A (p.Tyr2466Ter)
|
rs1555394402
|
|
NM_000138.5(FBN1):c.7398C>G (p.Tyr2466Ter)
|
rs1555394402
|
|
NM_000138.5(FBN1):c.7399C>T (p.Gln2467Ter)
|
rs1566892727
|
|
NM_000138.5(FBN1):c.7399del (p.Gln2467fs)
|
rs2042971434
|
|
NM_000138.5(FBN1):c.7400A>C (p.Gln2467Pro)
|
rs770839761
|
|
NM_000138.5(FBN1):c.7402T>C (p.Cys2468Arg)
|
rs1085308004
|
|
NM_000138.5(FBN1):c.7403G>A (p.Cys2468Tyr)
|
rs1555394400
|
|
NM_000138.5(FBN1):c.7406C>A (p.Ser2469Ter)
|
|
|
NM_000138.5(FBN1):c.7407A>G (p.Ser2469=)
|
rs193922232
|
|
NM_000138.5(FBN1):c.7408T>A (p.Cys2470Ser)
|
rs1555394399
|
|
NM_000138.5(FBN1):c.7408T>C (p.Cys2470Arg)
|
rs1555394399
|
|
NM_000138.5(FBN1):c.7409G>A (p.Cys2470Tyr)
|
rs1555394398
|
|
NM_000138.5(FBN1):c.7409G>T (p.Cys2470Phe)
|
rs1555394398
|
|
NM_000138.5(FBN1):c.7409_7410delinsAT (p.Cys2470Tyr)
|
rs2141226319
|
|
NM_000138.5(FBN1):c.7410C>G (p.Cys2470Trp)
|
rs1555394397
|
|
NM_000138.5(FBN1):c.7412C>T (p.Pro2471Leu)
|
rs193922233
|
|
NM_000138.5(FBN1):c.7415A>G (p.Lys2472Arg)
|
|
|
NM_000138.5(FBN1):c.7418G>A (p.Gly2473Asp)
|
rs2042971166
|
|
NM_000138.5(FBN1):c.7421A>G (p.Tyr2474Cys)
|
rs869025415
|
|
NM_000138.5(FBN1):c.7421del (p.Tyr2474fs)
|
rs1060501060
|
|
NM_000138.5(FBN1):c.7428G>A (p.Leu2476=)
|
rs1229985371
|
|
NM_000138.5(FBN1):c.7432G>T (p.Glu2478Ter)
|
rs537570299
|
|
NM_000138.5(FBN1):c.7440_7442del (p.Arg2481del)
|
|
|
NM_000138.5(FBN1):c.7447T>C (p.Cys2483Arg)
|
rs1555394391
|
|
NM_000138.5(FBN1):c.7447T>G (p.Cys2483Gly)
|
|
|
NM_000138.5(FBN1):c.7448G>A (p.Cys2483Tyr)
|
rs1555394390
|
|
NM_000138.5(FBN1):c.7448G>C (p.Cys2483Ser)
|
rs1555394390
|
|
NM_000138.5(FBN1):c.7453+10A>C
|
|
|
NM_000138.5(FBN1):c.7453+15A>G
|
|
|
NM_000138.5(FBN1):c.7453+16C>A
|
|
|
NM_000138.5(FBN1):c.7453+1G>T
|
rs397515851
|
|
NM_000138.5(FBN1):c.7453+1del
|
rs2042970813
|
|
NM_000138.5(FBN1):c.7453+2T>G
|
|
|
NM_000138.5(FBN1):c.7454-10T>C
|
|
|
NM_000138.5(FBN1):c.7454-13C>G
|
|
|
NM_000138.5(FBN1):c.7454-17C>T
|
|
|
NM_000138.5(FBN1):c.7454-1G>C
|
rs2141222615
|
|
NM_000138.5(FBN1):c.7454-1G>T
|
rs2141222615
|
|
NM_000138.5(FBN1):c.7454-2A>G
|
rs2042947959
|
|
NM_000138.5(FBN1):c.7454-4G>T
|
rs1365010331
|
|
NM_000138.5(FBN1):c.7454A>G (p.Asp2485Gly)
|
rs1085307921
|
|
NM_000138.5(FBN1):c.7455_7821del
|
|
|
NM_000138.5(FBN1):c.7460A>G (p.Asp2487Gly)
|
|
|
NM_000138.5(FBN1):c.7463A>C (p.Glu2488Ala)
|
|
|
NM_000138.5(FBN1):c.7463A>G (p.Glu2488Gly)
|
|
|
NM_000138.5(FBN1):c.7464G>A (p.Glu2488=)
|
rs1597513869
|
|
NM_000138.5(FBN1):c.7465T>A (p.Cys2489Ser)
|
rs1057520728
|
|
NM_000138.5(FBN1):c.7465T>G (p.Cys2489Gly)
|
rs1057520728
|
|
NM_000138.5(FBN1):c.7466G>A (p.Cys2489Tyr)
|
rs1060501077
|
|
NM_000138.5(FBN1):c.7473_7480del (p.Lys2492fs)
|
rs2042947612
|
|
NM_000138.5(FBN1):c.7476G>A (p.Lys2492=)
|
rs2141222576
|
|
NM_000138.5(FBN1):c.7477C>T (p.Gln2493Ter)
|
rs2042947671
|
|
NM_000138.5(FBN1):c.7478_7488del (p.Gln2493fs)
|
|
|
NM_000138.5(FBN1):c.7486T>A (p.Cys2496Ser)
|
rs1555394246
|
|
NM_000138.5(FBN1):c.7487G>T (p.Cys2496Phe)
|
rs1555394245
|
|
NM_000138.5(FBN1):c.748T>C (p.Cys250Arg)
|
|
|
NM_000138.5(FBN1):c.748_749insCC (p.Cys250fs)
|
rs2043996054
|
|
NM_000138.5(FBN1):c.7490A>C (p.Gln2497Pro)
|
rs2042947403
|
|
NM_000138.5(FBN1):c.7492T>G (p.Phe2498Val)
|
|
|
NM_000138.5(FBN1):c.7496T>C (p.Leu2499Pro)
|
|
|
NM_000138.5(FBN1):c.7497_7498del (p.Cys2500_Val2501insTer)
|
rs397515852
|
|
NM_000138.5(FBN1):c.7498T>A (p.Cys2500Ser)
|
rs363810
|
|
NM_000138.5(FBN1):c.7498T>C (p.Cys2500Arg)
|
rs363810
|
|
NM_000138.5(FBN1):c.7498_7504del (p.Cys2500fs)
|
rs2141222500
|
|
NM_000138.5(FBN1):c.7499G>A (p.Cys2500Tyr)
|
rs794728160
|
|
NM_000138.5(FBN1):c.7502_7508dup (p.Thr2503_Ile2504insTer)
|
rs2141222494
|
|
NM_000138.5(FBN1):c.7503T>G (p.Val2501=)
|
|
|
NM_000138.5(FBN1):c.7505A>T (p.Asn2502Ile)
|
rs1555394243
|
|
NM_000138.5(FBN1):c.750C>T (p.Cys250=)
|
|
|
NM_000138.5(FBN1):c.7510A>T (p.Ile2504Phe)
|
rs1223532755
|
|
NM_000138.5(FBN1):c.7515C>T (p.Gly2505=)
|
rs374570475
|
|
NM_000138.5(FBN1):c.7520T>G (p.Phe2507Cys)
|
|
|
NM_000138.5(FBN1):c.7524A>T (p.Thr2508=)
|
rs201992942
|
|
NM_000138.5(FBN1):c.7525T>A (p.Cys2509Ser)
|
rs1060501055
|
|
NM_000138.5(FBN1):c.7525T>G (p.Cys2509Gly)
|
rs1060501055
|
|
NM_000138.5(FBN1):c.7526G>A (p.Cys2509Tyr)
|
|
|
NM_000138.5(FBN1):c.7527C>A (p.Cys2509Ter)
|
rs2141222456
|
|
NM_000138.5(FBN1):c.7530A>G (p.Lys2510=)
|
rs754992689
|
|
NM_000138.5(FBN1):c.7531T>C (p.Cys2511Arg)
|
rs794728272
|
|
NM_000138.5(FBN1):c.7532G>A (p.Cys2511Tyr)
|
rs1555394238
|
|
NM_000138.5(FBN1):c.7533T>G (p.Cys2511Trp)
|
rs750331217
|
|
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg)
|
rs363811
|
|
NM_000138.5(FBN1):c.7540G>T (p.Gly2514Ter)
|
|
|
NM_000138.5(FBN1):c.7541G>A (p.Gly2514Glu)
|
|
|
NM_000138.5(FBN1):c.7547C>T (p.Thr2516Ile)
|
rs2042946390
|
|
NM_000138.5(FBN1):c.7549C>T (p.Gln2517Ter)
|
rs1566891808
|
|
NM_000138.5(FBN1):c.754dup (p.Ala252fs)
|
rs2043995981
|
|
NM_000138.5(FBN1):c.7554C>A (p.His2518Gln)
|
rs2042946233
|
|
NM_000138.5(FBN1):c.7558_7568del (p.His2519_Thr2520insTer)
|
rs2141222379
|
|
NM_000138.5(FBN1):c.7559del (p.Thr2520fs)
|
rs1597513708
|
|
NM_000138.5(FBN1):c.755_762del (p.Ala252fs)
|
rs2043995821
|
|
NM_000138.5(FBN1):c.7563_7570delinsGTTGGA (p.Cys2522fs)
|
rs2042946001
|
|
NM_000138.5(FBN1):c.7566C>A (p.Cys2522Ter)
|
rs1555394235
|
|
NM_000138.5(FBN1):c.7570+11G>C
|
|
|
NM_000138.5(FBN1):c.7570+20A>G
|
|
|
NM_000138.5(FBN1):c.7570+3G>A
|
rs771716341
|
|
NM_000138.5(FBN1):c.7570+5G>A
|
rs1566891797
|
|
NM_000138.5(FBN1):c.7570G>C (p.Asp2524His)
|
rs2042945976
|
|
NM_000138.5(FBN1):c.7571-13C>G
|
|
|
NM_000138.5(FBN1):c.7571-1G>A
|
rs1566891706
|
|
NM_000138.5(FBN1):c.7571-5C>G
|
|
|
NM_000138.5(FBN1):c.7574del (p.Asn2525fs)
|
rs1555394220
|
|
NM_000138.5(FBN1):c.7577A>G (p.Asn2526Ser)
|
rs794728336
|
|
NM_000138.5(FBN1):c.7577del (p.Asn2526fs)
|
rs1555394218
|
|
NM_000138.5(FBN1):c.7578T>C (p.Asn2526=)
|
|
|
NM_000138.5(FBN1):c.7579G>C (p.Glu2527Gln)
|
rs2141222003
|
|
NM_000138.5(FBN1):c.7580A>C (p.Glu2527Ala)
|
rs397515853
|
|
NM_000138.5(FBN1):c.7581A>G (p.Glu2527=)
|
rs2141221997
|
|
NM_000138.5(FBN1):c.7582T>G (p.Cys2528Gly)
|
|
|
NM_000138.5(FBN1):c.7583G>C (p.Cys2528Ser)
|
rs2141221984
|
|
NM_000138.5(FBN1):c.7584C>A (p.Cys2528Ter)
|
rs1303268147
|
|
NM_000138.5(FBN1):c.7599T>A (p.Asn2533Lys)
|
|
|
NM_000138.5(FBN1):c.7603T>C (p.Cys2535Arg)
|
rs1555394212
|
|
NM_000138.5(FBN1):c.7603T>G (p.Cys2535Gly)
|
|
|
NM_000138.5(FBN1):c.7604G>A (p.Cys2535Tyr)
|
rs1555394210
|
|
NM_000138.5(FBN1):c.7604_7605delinsTG (p.Cys2535Leu)
|
|
|
NM_000138.5(FBN1):c.7605C>A (p.Cys2535Ter)
|
rs113544411
|
|
NM_000138.5(FBN1):c.7605C>G (p.Cys2535Trp)
|
rs113544411
|
|
NM_000138.5(FBN1):c.7606G>A (p.Gly2536Arg)
|
rs397515854
|
|
NM_000138.5(FBN1):c.7608G>A (p.Gly2536=)
|
|
|
NM_000138.5(FBN1):c.7608dup (p.Ser2537fs)
|
rs1555394206
|
|
NM_000138.5(FBN1):c.760C>G (p.Pro254Ala)
|
rs2141353825
|
|
NM_000138.5(FBN1):c.7610C>G (p.Ser2537Cys)
|
rs2141221930
|
|
NM_000138.5(FBN1):c.7610del (p.Ser2537fs)
|
rs2141221934
|
|
NM_000138.5(FBN1):c.7617del (p.Ile2540fs)
|
rs2141221916
|
|
NM_000138.5(FBN1):c.7621del (p.Cys2541fs)
|
rs2042942749
|
|
NM_000138.5(FBN1):c.7622G>A (p.Cys2541Tyr)
|
|
|
NM_000138.5(FBN1):c.7624C>T (p.Gln2542Ter)
|
rs794728276
|
|
NM_000138.5(FBN1):c.7627A>C (p.Asn2543His)
|
|
|
NM_000138.5(FBN1):c.762del (p.Leu256fs)
|
rs1064793559
|
|
NM_000138.5(FBN1):c.7630del (p.Thr2544fs)
|
|
|
NM_000138.5(FBN1):c.7633C>T (p.Pro2545Ser)
|
rs2141221883
|
|
NM_000138.5(FBN1):c.7636G>A (p.Gly2546Arg)
|
rs2042942573
|
|
NM_000138.5(FBN1):c.763G>T (p.Gly255Trp)
|
|
|
NM_000138.5(FBN1):c.7641C>G (p.Ser2547Arg)
|
rs1555394198
|
|
NM_000138.5(FBN1):c.7642T>C (p.Phe2548Leu)
|
rs2141221864
|
|
NM_000138.5(FBN1):c.7643T>A (p.Phe2548Tyr)
|
|
|
NM_000138.5(FBN1):c.7643del (p.Phe2548fs)
|
rs1555394197
|
|
NM_000138.5(FBN1):c.7648T>A (p.Cys2550Ser)
|
rs1566891675
|
|
NM_000138.5(FBN1):c.7649G>A (p.Cys2550Tyr)
|
rs1555394196
|
|
NM_000138.5(FBN1):c.7650_7651insA (p.Glu2551fs)
|
rs1060501042
|
|
NM_000138.5(FBN1):c.7654T>C (p.Cys2552Arg)
|
rs1566891668
|
|
NM_000138.5(FBN1):c.7655G>T (p.Cys2552Phe)
|
rs113334360
|
|
NM_000138.5(FBN1):c.7655_7656del (p.Cys2552fs)
|
rs1597513323
|
|
NM_000138.5(FBN1):c.7655_7656delinsAA (p.Cys2552Ter)
|
rs1597513319
|
|
NM_000138.5(FBN1):c.7656C>A (p.Cys2552Ter)
|
rs1555394195
|
|
NM_000138.5(FBN1):c.7663G>A (p.Gly2555Arg)
|
rs1566891655
|
|
NM_000138.5(FBN1):c.7664G>T (p.Gly2555Val)
|
rs1566891654
|
|
NM_000138.5(FBN1):c.7665A>G (p.Gly2555=)
|
rs1597513298
|
|
NM_000138.5(FBN1):c.7666T>G (p.Phe2556Val)
|
rs193922234
|
|
NM_000138.5(FBN1):c.7668C>T (p.Phe2556=)
|
rs2141221791
|
|
NM_000138.5(FBN1):c.7676_7677del (p.Asp2559fs)
|
rs2141221768
|
|
NM_000138.5(FBN1):c.7678C>T (p.Gln2560Ter)
|
|
|
NM_000138.5(FBN1):c.7678del (p.Gln2560fs)
|
rs193922235
|
|
NM_000138.5(FBN1):c.7688C>G (p.Ser2563Cys)
|
rs2042941564
|
|
NM_000138.5(FBN1):c.7693T>C (p.Cys2565Arg)
|
|
|
NM_000138.5(FBN1):c.7693del (p.Cys2565fs)
|
rs2141221743
|
|
NM_000138.5(FBN1):c.7694G>A (p.Cys2565Tyr)
|
rs1566891645
|
|
NM_000138.5(FBN1):c.7696G>T (p.Glu2566Ter)
|
rs2141221739
|
|
NM_000138.5(FBN1):c.7697A>C (p.Glu2566Ala)
|
rs2042941498
|
|
NM_000138.5(FBN1):c.7699+15C>T
|
rs1280521883
|
|
NM_000138.5(FBN1):c.7699+18C>T
|
rs753819758
|
|
NM_000138.5(FBN1):c.7699+1G>A
|
rs1555394189
|
|
NM_000138.5(FBN1):c.7699+20G>A
|
|
|
NM_000138.5(FBN1):c.7699+2T>C
|
|
|
NM_000138.5(FBN1):c.7699+5G>A
|
rs1555394187
|
|
NM_000138.5(FBN1):c.769dup (p.Cys257fs)
|
|
|
NM_000138.5(FBN1):c.7700-10T>G
|
|
|
NM_000138.5(FBN1):c.7700-4T>G
|
|
|
NM_000138.5(FBN1):c.7700-7T>C
|
|
|
NM_000138.5(FBN1):c.7700-9C>G
|
rs772261791
|
|
NM_000138.5(FBN1):c.7700-9C>T
|
rs772261791
|
|
NM_000138.5(FBN1):c.7700_7706del (p.Asp2567fs)
|
rs2141220862
|
|
NM_000138.5(FBN1):c.7704G>T (p.Val2568=)
|
|
|
NM_000138.5(FBN1):c.7706A>C (p.Asp2569Ala)
|
|
|
NM_000138.5(FBN1):c.7706A>G (p.Asp2569Gly)
|
rs2141220859
|
|
NM_000138.5(FBN1):c.7706del (p.Asp2569fs)
|
|
|
NM_000138.5(FBN1):c.7708G>A (p.Glu2570Lys)
|
rs886038786
|
|
NM_000138.5(FBN1):c.7710G>A (p.Glu2570=)
|
rs748055037
|
|
NM_000138.5(FBN1):c.7710_7712del (p.Glu2570_Cys2571delinsAsp)
|
|
|
NM_000138.5(FBN1):c.7711T>C (p.Cys2571Arg)
|
rs2042934926
|
|
NM_000138.5(FBN1):c.7712G>A (p.Cys2571Tyr)
|
rs1555394153
|
|
NM_000138.5(FBN1):c.7712G>T (p.Cys2571Phe)
|
rs1555394153
|
|
NM_000138.5(FBN1):c.7713_7730del (p.Glu2572_Cys2577del)
|
rs2141220791
|
|
NM_000138.5(FBN1):c.7714G>A (p.Glu2572Lys)
|
rs2141220835
|
|
NM_000138.5(FBN1):c.7714G>T (p.Glu2572Ter)
|
|
|
NM_000138.5(FBN1):c.7718G>A (p.Gly2573Asp)
|
|
|
NM_000138.5(FBN1):c.7719del (p.Asn2574fs)
|
rs1555394152
|
|
NM_000138.5(FBN1):c.7726C>T (p.Arg2576Cys)
|
rs147195031
|
|
NM_000138.5(FBN1):c.7728C>G (p.Arg2576=)
|
|
|
NM_000138.5(FBN1):c.7728C>T (p.Arg2576=)
|
rs751226629
|
|
NM_000138.5(FBN1):c.7729dup (p.Cys2577fs)
|
rs1555394151
|
|
NM_000138.5(FBN1):c.772C>T (p.Gln258Ter)
|
rs146348130
|
|
NM_000138.5(FBN1):c.7732C>A (p.Gln2578Lys)
|
|
|
NM_000138.5(FBN1):c.7735_7746dup (p.His2579_Gln2582dup)
|
rs2141220752
|
|
NM_000138.5(FBN1):c.7735del (p.His2579fs)
|
rs1566891454
|
|
NM_000138.5(FBN1):c.7736A>C (p.His2579Pro)
|
|
|
NM_000138.5(FBN1):c.7737T>G (p.His2579Gln)
|
|
|
NM_000138.5(FBN1):c.7739G>A (p.Gly2580Asp)
|
|
|
NM_000138.5(FBN1):c.7742G>A (p.Cys2581Tyr)
|
rs1555394149
|
|
NM_000138.5(FBN1):c.7742G>C (p.Cys2581Ser)
|
rs1555394149
|
|
NM_000138.5(FBN1):c.7746G>A (p.Gln2582=)
|
rs1555394148
|
|
NM_000138.5(FBN1):c.7748A>G (p.Asn2583Ser)
|
rs2042934435
|
|
NM_000138.5(FBN1):c.7752C>G (p.Ile2584Met)
|
rs2042934389
|
|
NM_000138.5(FBN1):c.7760del (p.Gly2587fs)
|
rs1597512677
|
|
NM_000138.5(FBN1):c.7763A>G (p.Tyr2588Cys)
|
rs1566891436
|
|
NM_000138.5(FBN1):c.7765A>G (p.Arg2589Gly)
|
rs111413134
|
|
NM_000138.5(FBN1):c.7768T>G (p.Cys2590Gly)
|
|
|
NM_000138.5(FBN1):c.7769G>A (p.Cys2590Tyr)
|
rs869025416
|
|
NM_000138.5(FBN1):c.776G>T (p.Gly259Val)
|
rs751169871
|
|
NM_000138.5(FBN1):c.7775G>A (p.Cys2592Tyr)
|
rs112118237
|
|
NM_000138.5(FBN1):c.7775G>T (p.Cys2592Phe)
|
rs112118237
|
|
NM_000138.5(FBN1):c.7776_7819+37delinsTAGCT
|
rs2141220506
|
|
NM_000138.5(FBN1):c.7779C>G (p.Pro2593=)
|
|
|
NM_000138.5(FBN1):c.777_801del (p.Gly260fs)
|
rs2043994986
|
|
NM_000138.5(FBN1):c.7780C>T (p.Gln2594Ter)
|
rs1555394144
|
|
NM_000138.5(FBN1):c.7780del (p.Gln2594fs)
|
rs1555394146
|
|
NM_000138.5(FBN1):c.7784G>A (p.Gly2595Asp)
|
rs397515857
|
|
NM_000138.5(FBN1):c.7785del (p.Tyr2596fs)
|
rs1566891406
|
|
NM_000138.5(FBN1):c.7786_7792del (p.Tyr2596fs)
|
rs2141220647
|
|
NM_000138.5(FBN1):c.7787A>G (p.Tyr2596Cys)
|
rs1566891404
|
|
NM_000138.5(FBN1):c.7788C>A (p.Tyr2596Ter)
|
rs1555394142
|
|
NM_000138.5(FBN1):c.7788C>T (p.Tyr2596=)
|
rs1555394142
|
|
NM_000138.5(FBN1):c.778G>A (p.Gly260Arg)
|
rs2043995400
|
|
NM_000138.5(FBN1):c.7791C>G (p.Leu2597=)
|
|
|
NM_000138.5(FBN1):c.7799A>G (p.Tyr2600Cys)
|
rs2141220639
|
|
NM_000138.5(FBN1):c.7800C>G (p.Tyr2600Ter)
|
rs1404133653
|
|
NM_000138.5(FBN1):c.7800C>T (p.Tyr2600=)
|
rs1404133653
|
|
NM_000138.5(FBN1):c.7801C>T (p.Gln2601Ter)
|
rs1597512600
|
|
NM_000138.5(FBN1):c.7806G>A (p.Trp2602Ter)
|
rs193922236
|
|
NM_000138.5(FBN1):c.7806G>C (p.Trp2602Cys)
|
|
|
NM_000138.5(FBN1):c.7808_7809del (p.Asn2603fs)
|
rs2141220616
|
|
NM_000138.5(FBN1):c.7810C>T (p.Gln2604Ter)
|
rs111496285
|
|
NM_000138.5(FBN1):c.7812G>C (p.Gln2604His)
|
rs2141220609
|
|
NM_000138.5(FBN1):c.7813dup (p.Cys2605fs)
|
rs1555394138
|
|
NM_000138.5(FBN1):c.7817T>A (p.Val2606Asp)
|
rs2141220600
|
|
NM_000138.5(FBN1):c.7817_7819del (p.Val2606del)
|
rs1555394136
|
|
NM_000138.5(FBN1):c.7819+13del
|
|
|
NM_000138.5(FBN1):c.7819+1G>A
|
rs112907302
|
|
NM_000138.5(FBN1):c.7819+1G>T
|
rs112907302
|
|
NM_000138.5(FBN1):c.7819+3A>C
|
rs1555394135
|
|
NM_000138.5(FBN1):c.7819+4A>G
|
rs794728278
|
|
NM_000138.5(FBN1):c.7819+5G>T
|
|
|
NM_000138.5(FBN1):c.7819G>A (p.Asp2607Asn)
|
rs1597512576
|
|
NM_000138.5(FBN1):c.7819G>T (p.Asp2607Tyr)
|
rs1597512576
|
|
NM_000138.5(FBN1):c.7820-11T>C
|
|
|
NM_000138.5(FBN1):c.7820-17T>A
|
|
|
NM_000138.5(FBN1):c.7820-1G>C
|
rs1597509836
|
|
NM_000138.5(FBN1):c.7820-3C>G
|
rs193922237
|
|
NM_000138.5(FBN1):c.7820A>G (p.Asp2607Gly)
|
|
|
NM_000138.5(FBN1):c.7822G>T (p.Glu2608Ter)
|
rs1566890005
|
|
NM_000138.5(FBN1):c.7827C>T (p.Asn2609=)
|
|
|
NM_000138.5(FBN1):c.7828G>A (p.Glu2610Lys)
|
rs111984349
|
|
NM_000138.5(FBN1):c.7829A>T (p.Glu2610Val)
|
rs1555393889
|
|
NM_000138.5(FBN1):c.7830A>T (p.Glu2610Asp)
|
rs1597509823
|
|
NM_000138.5(FBN1):c.7832G>A (p.Cys2611Tyr)
|
rs794728337
|
|
NM_000138.5(FBN1):c.7834C>T (p.Leu2612Phe)
|
|
|
NM_000138.5(FBN1):c.7840G>A (p.Ala2614Thr)
|
rs1280320763
|
|
NM_000138.5(FBN1):c.7840G>C (p.Ala2614Pro)
|
rs1280320763
|
|
NM_000138.5(FBN1):c.7840del (p.Ala2614fs)
|
|
|
NM_000138.5(FBN1):c.7842T>A (p.Ala2614=)
|
rs764496589
|
|
NM_000138.5(FBN1):c.7843C>G (p.His2615Asp)
|
rs2042899271
|
|
NM_000138.5(FBN1):c.7850G>A (p.Cys2617Tyr)
|
rs1555393886
|
|
NM_000138.5(FBN1):c.7851C>A (p.Cys2617Ter)
|
rs147019323
|
|
NM_000138.5(FBN1):c.7851C>T (p.Cys2617=)
|
|
|
NM_000138.5(FBN1):c.7852G>T (p.Gly2618Ter)
|
rs141133182
|
|
NM_000138.5(FBN1):c.7856G>A (p.Gly2619Glu)
|
rs113926846
|
|
NM_000138.5(FBN1):c.7863C>T (p.Ser2621=)
|
rs1342441428
|
|
NM_000138.5(FBN1):c.7864T>A (p.Cys2622Ser)
|
rs1555393882
|
|
NM_000138.5(FBN1):c.7864T>C (p.Cys2622Arg)
|
rs1555393882
|
|
NM_000138.5(FBN1):c.7865G>C (p.Cys2622Ser)
|
rs1555393880
|
|
NM_000138.5(FBN1):c.7865G>T (p.Cys2622Phe)
|
|
|
NM_000138.5(FBN1):c.7868A>T (p.His2623Leu)
|
|
|
NM_000138.5(FBN1):c.786C>T (p.Cys262=)
|
rs1597591684
|
|
NM_000138.5(FBN1):c.7871A>G (p.Asn2624Ser)
|
rs113935744
|
|
NM_000138.5(FBN1):c.7876C>G (p.Leu2626Val)
|
rs2042898824
|
|
NM_000138.5(FBN1):c.7877T>A (p.Leu2626Gln)
|
rs794728338
|
|
NM_000138.5(FBN1):c.7879G>A (p.Gly2627Arg)
|
rs193922239
|
|
NM_000138.5(FBN1):c.7879G>C (p.Gly2627Arg)
|
rs193922239
|
|
NM_000138.5(FBN1):c.7880G>A (p.Gly2627Glu)
|
rs1555393875
|
|
NM_000138.5(FBN1):c.7880G>C (p.Gly2627Ala)
|
rs1555393875
|
|
NM_000138.5(FBN1):c.7880G>T (p.Gly2627Val)
|
rs1555393875
|
|
NM_000138.5(FBN1):c.7881dup (p.Ser2628fs)
|
rs1060501067
|
|
NM_000138.5(FBN1):c.7892G>A (p.Cys2631Tyr)
|
rs111856492
|
|
NM_000138.5(FBN1):c.7892G>T (p.Cys2631Phe)
|
rs111856492
|
|
NM_000138.5(FBN1):c.7895T>C (p.Met2632Thr)
|
|
|
NM_000138.5(FBN1):c.7897T>G (p.Cys2633Gly)
|
rs1555393871
|
|
NM_000138.5(FBN1):c.7898G>C (p.Cys2633Ser)
|
rs193922240
|
|
NM_000138.5(FBN1):c.789T>C (p.Ile263=)
|
rs2141353743
|
|
NM_000138.5(FBN1):c.7905C>T (p.Ala2635=)
|
|
|
NM_000138.5(FBN1):c.7907del (p.Gly2636fs)
|
rs2141214897
|
|
NM_000138.5(FBN1):c.7912C>T (p.Gln2638Ter)
|
rs2141214889
|
|
NM_000138.5(FBN1):c.7914G>T (p.Gln2638His)
|
rs1597509725
|
|
NM_000138.5(FBN1):c.7921C>T (p.Gln2641Ter)
|
rs1555393866
|
|
NM_000138.5(FBN1):c.7931_7937del (p.Gly2644fs)
|
rs1555393862
|
|
NM_000138.5(FBN1):c.7932A>T (p.Gly2644=)
|
rs1597509710
|
|
NM_000138.5(FBN1):c.7936T>A (p.Cys2646Ser)
|
rs1555393863
|
|
NM_000138.5(FBN1):c.7936T>C (p.Cys2646Arg)
|
rs1555393863
|
|
NM_000138.5(FBN1):c.7937G>A (p.Cys2646Tyr)
|
rs1597509701
|
|
NM_000138.5(FBN1):c.793A>T (p.Thr265Ser)
|
rs982468949
|
|
NM_000138.5(FBN1):c.7951G>T (p.Glu2651Ter)
|
rs1555393859
|
|
NM_000138.5(FBN1):c.7954T>A (p.Cys2652Ser)
|
rs1555393858
|
|
NM_000138.5(FBN1):c.7954T>C (p.Cys2652Arg)
|
rs1555393858
|
|
NM_000138.5(FBN1):c.7955G>A (p.Cys2652Tyr)
|
rs397515859
|
|
NM_000138.5(FBN1):c.7959del (p.Ser2654fs)
|
rs1597509674
|
|
NM_000138.5(FBN1):c.795del (p.Val266fs)
|
rs2141353727
|
|
NM_000138.5(FBN1):c.7962T>C (p.Ser2654=)
|
|
|
NM_000138.5(FBN1):c.7966C>T (p.Gln2656Ter)
|
rs2141214772
|
|
NM_000138.5(FBN1):c.796_810del (p.Val266_Glu270del)
|
|
|
NM_000138.5(FBN1):c.7970C>T (p.Ala2657Val)
|
|
|
NM_000138.5(FBN1):c.7972C>G (p.Pro2658Ala)
|
rs1555393851
|
|
NM_000138.5(FBN1):c.7974del (p.Cys2659fs)
|
rs1555393848
|
|
NM_000138.5(FBN1):c.7974dup (p.Cys2659fs)
|
rs1555393848
|
|
NM_000138.5(FBN1):c.7975T>G (p.Cys2659Gly)
|
rs1555393847
|
|
NM_000138.5(FBN1):c.7976_7977delinsTT (p.Cys2659Phe)
|
|
|
NM_000138.5(FBN1):c.7977C>A (p.Cys2659Ter)
|
rs1555393844
|
|
NM_000138.5(FBN1):c.7979G>A (p.Ser2660Asn)
|
rs2141214726
|
|
NM_000138.5(FBN1):c.7980C>G (p.Ser2660Arg)
|
rs1060501030
|
|
NM_000138.5(FBN1):c.7982A>G (p.Tyr2661Cys)
|
rs112196241
|
|
NM_000138.5(FBN1):c.7983T>A (p.Tyr2661Ter)
|
rs2141214712
|
|
NM_000138.5(FBN1):c.7987T>C (p.Cys2663Arg)
|
rs1566889870
|
|
NM_000138.5(FBN1):c.7987_8004del (p.Cys2663_Gly2668del)
|
rs1597509607
|
|
NM_000138.5(FBN1):c.7988G>A (p.Cys2663Tyr)
|
rs1597509631
|
|
NM_000138.5(FBN1):c.7988G>C (p.Cys2663Ser)
|
rs1597509631
|
|
NM_000138.5(FBN1):c.7988G>T (p.Cys2663Phe)
|
rs1597509631
|
|
NM_000138.5(FBN1):c.7991C>G (p.Ser2664Cys)
|
rs2042896586
|
|
NM_000138.5(FBN1):c.7991C>T (p.Ser2664Phe)
|
rs2042896586
|
|
NM_000138.5(FBN1):c.7994A>G (p.Asn2665Ser)
|
rs763173031
|
|
NM_000138.5(FBN1):c.7999G>T (p.Glu2667Ter)
|
rs149062442
|
|
NM_000138.5(FBN1):c.799G>C (p.Gly267Arg)
|
rs2141353715
|
|
NM_000138.5(FBN1):c.799_805del (p.Gly267fs)
|
rs1060501100
|
|
NM_000138.5(FBN1):c.7C>T (p.Arg3Ter)
|
rs886038797
|
|
NM_000138.5(FBN1):c.8002G>T (p.Gly2668Cys)
|
rs1057521100
|
|
NM_000138.5(FBN1):c.8005G>T (p.Gly2669Cys)
|
rs794728281
|
|
NM_000138.5(FBN1):c.8006G>T (p.Gly2669Val)
|
rs886038869
|
|
NM_000138.5(FBN1):c.8008_8009insCACCCTCGGTAACCTGTGTGGTAATA (p.Tyr2670fs)
|
rs2141214637
|
|
NM_000138.5(FBN1):c.8009A>G (p.Tyr2670Cys)
|
rs794728339
|
|
NM_000138.5(FBN1):c.8009A>T (p.Tyr2670Phe)
|
rs794728339
|
|
NM_000138.5(FBN1):c.8009del (p.Tyr2670fs)
|
rs2141214634
|
|
NM_000138.5(FBN1):c.8011C>T (p.Leu2671=)
|
rs886051244
|
|
NM_000138.5(FBN1):c.8011_8012del (p.Leu2671fs)
|
rs2141214616
|
|
NM_000138.5(FBN1):c.8012T>C (p.Leu2671Pro)
|
rs2141214610
|
|
NM_000138.5(FBN1):c.8014T>C (p.Cys2672Arg)
|
rs1555393833
|
|
NM_000138.5(FBN1):c.8014T>G (p.Cys2672Gly)
|
rs1555393833
|
|
NM_000138.5(FBN1):c.8015G>A (p.Cys2672Tyr)
|
rs1555393831
|
|
NM_000138.5(FBN1):c.8015G>C (p.Cys2672Ser)
|
rs1555393831
|
|
NM_000138.5(FBN1):c.8015G>T (p.Cys2672Phe)
|
rs1555393831
|
|
NM_000138.5(FBN1):c.8016_8017insAG (p.Gly2673fs)
|
rs2141214595
|
|
NM_000138.5(FBN1):c.801del (p.Ser268fs)
|
rs1060501050
|
|
NM_000138.5(FBN1):c.8020T>C (p.Cys2674Arg)
|
rs1060501014
|
|
NM_000138.5(FBN1):c.8021G>A (p.Cys2674Tyr)
|
rs1555393827
|
|
NM_000138.5(FBN1):c.8029_8030insACAGTAACCACCTG (p.Gly2677fs)
|
|
|
NM_000138.5(FBN1):c.802T>C (p.Ser268Pro)
|
|
|
NM_000138.5(FBN1):c.8032dup (p.Tyr2678fs)
|
rs2042895751
|
|
NM_000138.5(FBN1):c.8034C>T (p.Tyr2678=)
|
rs1597509559
|
|
NM_000138.5(FBN1):c.8037C>T (p.Phe2679=)
|
|
|
NM_000138.5(FBN1):c.8038C>T (p.Arg2680Cys)
|
rs794728283
|
|
NM_000138.5(FBN1):c.8040dup (p.Ile2681fs)
|
|
|
NM_000138.5(FBN1):c.8041A>G (p.Ile2681Val)
|
|
|
NM_000138.5(FBN1):c.8042T>G (p.Ile2681Arg)
|
rs1555393825
|
|
NM_000138.5(FBN1):c.8047C>T (p.Gln2683Ter)
|
rs2141214520
|
|
NM_000138.5(FBN1):c.8051+10G>T
|
rs1007432990
|
|
NM_000138.5(FBN1):c.8051+18T>C
|
|
|
NM_000138.5(FBN1):c.8051+1G>A
|
rs2141214507
|
|
NM_000138.5(FBN1):c.8051+2T>A
|
rs2141214505
|
|
NM_000138.5(FBN1):c.8051+375G>T
|
rs1060501062
|
|
NM_000138.5(FBN1):c.8051+3_8051+9del
|
rs2141214499
|
|
NM_000138.5(FBN1):c.8052-10T>G
|
|
|
NM_000138.5(FBN1):c.8052-13C>T
|
|
|
NM_000138.5(FBN1):c.8052-14C>A
|
|
|
NM_000138.5(FBN1):c.8052-1G>A
|
|
|
NM_000138.5(FBN1):c.8052-2A>G
|
|
|
NM_000138.5(FBN1):c.8052-5T>C
|
|
|
NM_000138.5(FBN1):c.8052-6_8052-3del
|
rs2141211838
|
|
NM_000138.5(FBN1):c.8054A>G (p.His2685Arg)
|
rs1555393666
|
|
NM_000138.5(FBN1):c.8056T>C (p.Cys2686Arg)
|
rs1566889188
|
|
NM_000138.5(FBN1):c.8057G>A (p.Cys2686Tyr)
|
|
|
NM_000138.5(FBN1):c.8057G>T (p.Cys2686Phe)
|
rs2141211820
|
|
NM_000138.5(FBN1):c.8058T>A (p.Cys2686Ter)
|
|
|
NM_000138.5(FBN1):c.8059G>T (p.Val2687Phe)
|
rs1464168530
|
|
NM_000138.5(FBN1):c.8059_8060del (p.Val2687fs)
|
rs2042873946
|
|
NM_000138.5(FBN1):c.8069T>A (p.Met2690Lys)
|
rs747476726
|
|
NM_000138.5(FBN1):c.8069T>C (p.Met2690Thr)
|
rs747476726
|
|
NM_000138.5(FBN1):c.806T>C (p.Phe269Ser)
|
rs951026080
|
|
NM_000138.5(FBN1):c.8073C>T (p.Gly2691=)
|
|
|
NM_000138.5(FBN1):c.8080C>T (p.Arg2694Ter)
|
rs200309328
|
|
NM_000138.5(FBN1):c.8080del (p.Arg2694fs)
|
|
|
NM_000138.5(FBN1):c.8081G>A (p.Arg2694Gln)
|
rs371375126
|
|
NM_000138.5(FBN1):c.8082A>C (p.Arg2694=)
|
rs1597507799
|
|
NM_000138.5(FBN1):c.8087del (p.Asn2696fs)
|
rs1060501065
|
|
NM_000138.5(FBN1):c.8089C>A (p.Pro2697Thr)
|
|
|
NM_000138.5(FBN1):c.808G>C (p.Glu270Gln)
|
rs2043994842
|
|
NM_000138.5(FBN1):c.8090_8099del (p.Pro2697fs)
|
|
|
NM_000138.5(FBN1):c.8092G>T (p.Glu2698Ter)
|
rs1597507783
|
|
NM_000138.5(FBN1):c.8098C>T (p.Pro2700Ser)
|
|
|
NM_000138.5(FBN1):c.8099C>T (p.Pro2700Leu)
|
rs886038782
|
|
NM_000138.5(FBN1):c.8101G>A (p.Val2701Ile)
|
rs753925682
|
|
NM_000138.5(FBN1):c.8101_8102del (p.Val2701fs)
|
rs1597507763
|
|
NM_000138.5(FBN1):c.8103C>T (p.Val2701=)
|
rs1340105891
|
|
NM_000138.5(FBN1):c.8103_8104insT (p.Ser2702Ter)
|
rs2141211736
|
|
NM_000138.5(FBN1):c.8108G>T (p.Gly2703Val)
|
rs794728284
|
|
NM_000138.5(FBN1):c.8108del (p.Gly2703fs)
|
|
|
NM_000138.5(FBN1):c.810G>A (p.Glu270=)
|
|
|
NM_000138.5(FBN1):c.8118del (p.Asp2706fs)
|
rs2141211729
|
|
NM_000138.5(FBN1):c.811T>G (p.Cys271Gly)
|
rs1060501019
|
|
NM_000138.5(FBN1):c.8121C>A (p.Asp2707Glu)
|
rs1566889147
|
|
NM_000138.5(FBN1):c.8121C>T (p.Asp2707=)
|
rs1566889147
|
|
NM_000138.5(FBN1):c.8128C>T (p.Leu2710Phe)
|
rs1342786403
|
|
NM_000138.5(FBN1):c.8129T>C (p.Leu2710Pro)
|
rs1297376845
|
|
NM_000138.5(FBN1):c.8136A>G (p.Pro2712=)
|
|
|
NM_000138.5(FBN1):c.8137G>A (p.Glu2713Lys)
|
rs2141211697
|
|
NM_000138.5(FBN1):c.8138A>G (p.Glu2713Gly)
|
rs1555393658
|
|
NM_000138.5(FBN1):c.8139G>A (p.Glu2713=)
|
rs2141211689
|
|
NM_000138.5(FBN1):c.8140G>A (p.Ala2714Thr)
|
rs766170041
|
|
NM_000138.5(FBN1):c.8140G>T (p.Ala2714Ser)
|
|
|
NM_000138.5(FBN1):c.8140del (p.Ala2714fs)
|
|
|
NM_000138.5(FBN1):c.8144G>A (p.Cys2715Tyr)
|
rs1597507716
|
|
NM_000138.5(FBN1):c.8144G>C (p.Cys2715Ser)
|
rs1597507716
|
|
NM_000138.5(FBN1):c.8145T>A (p.Cys2715Ter)
|
rs1597507712
|
|
NM_000138.5(FBN1):c.8147dup (p.Tyr2716Ter)
|
rs1555393657
|
|
NM_000138.5(FBN1):c.8148C>G (p.Tyr2716Ter)
|
rs112642323
|
|
NM_000138.5(FBN1):c.8148C>T (p.Tyr2716=)
|
rs112642323
|
|
NM_000138.5(FBN1):c.8148_8149insA (p.Glu2717fs)
|
rs1555393653
|
|
NM_000138.5(FBN1):c.8149G>T (p.Glu2717Ter)
|
rs187553035
|
|
NM_000138.5(FBN1):c.814delinsTGGACACAATGCCCTGCTGGACACAAACTT (p.Lys272fs)
|
rs1597591643
|
|
NM_000138.5(FBN1):c.8154dup (p.Lys2719Ter)
|
rs794728321
|
|
NM_000138.5(FBN1):c.8157G>A (p.Lys2719=)
|
rs2042872810
|
|
NM_000138.5(FBN1):c.816A>G (p.Lys272=)
|
|
|
NM_000138.5(FBN1):c.8173A>T (p.Lys2725Ter)
|
rs1555393652
|
|
NM_000138.5(FBN1):c.8176del (p.Arg2726fs)
|
|
|
NM_000138.5(FBN1):c.8181C>T (p.Gly2727=)
|
|
|
NM_000138.5(FBN1):c.8185A>C (p.Lys2729Gln)
|
rs370096856
|
|
NM_000138.5(FBN1):c.8188C>T (p.Arg2730Trp)
|
rs1371152380
|
|
NM_000138.5(FBN1):c.8195G>A (p.Ser2732Asn)
|
rs2042872305
|
|
NM_000138.5(FBN1):c.819C>A (p.Cys273Ter)
|
|
|
NM_000138.5(FBN1):c.819C>T (p.Cys273=)
|
|
|
NM_000138.5(FBN1):c.8203G>A (p.Glu2735Lys)
|
|
|
NM_000138.5(FBN1):c.8203del (p.Glu2735fs)
|
rs193922241
|
|
NM_000138.5(FBN1):c.8213C>A (p.Ala2738Asp)
|
rs2042871947
|
|
NM_000138.5(FBN1):c.8219_8225dup (p.Asp2743fs)
|
|
|
NM_000138.5(FBN1):c.821C>A (p.Pro274His)
|
rs1085307537
|
|
NM_000138.5(FBN1):c.8222T>C (p.Ile2741Thr)
|
|
|
NM_000138.5(FBN1):c.8223C>G (p.Ile2741Met)
|
rs150065311
|
|
NM_000138.5(FBN1):c.8226+12G>A
|
rs2141211477
|
|
NM_000138.5(FBN1):c.8226+1G>A
|
rs398122833
|
|
NM_000138.5(FBN1):c.8226+1G>T
|
rs398122833
|
|
NM_000138.5(FBN1):c.8226+5G>A
|
rs193922243
|
|
NM_000138.5(FBN1):c.8226+5G>T
|
rs193922243
|
|
NM_000138.5(FBN1):c.8226G>T (p.Glu2742Asp)
|
rs1060501045
|
|
NM_000138.5(FBN1):c.8227-12G>A
|
|
|
NM_000138.5(FBN1):c.8227-13T>C
|
|
|
NM_000138.5(FBN1):c.8227-5dup
|
|
|
NM_000138.5(FBN1):c.8227-6T>C
|
rs1198254608
|
|
NM_000138.5(FBN1):c.8232G>C (p.Gln2744His)
|
rs376119827
|
|
NM_000138.5(FBN1):c.8233T>G (p.Ser2745Ala)
|
|
|
NM_000138.5(FBN1):c.8235T>C (p.Ser2745=)
|
|
|
NM_000138.5(FBN1):c.8235dup (p.Glu2746Ter)
|
rs2141210158
|
|
NM_000138.5(FBN1):c.823G>A (p.Ala275Thr)
|
rs1345051744
|
|
NM_000138.5(FBN1):c.8240_8241del (p.Thr2747fs)
|
|
|
NM_000138.5(FBN1):c.8242G>T (p.Glu2748Ter)
|
|
|
NM_000138.5(FBN1):c.8247C>T (p.Ala2749=)
|
rs1555393567
|
|
NM_000138.5(FBN1):c.8249A>G (p.Asn2750Ser)
|
rs763816801
|
|
NM_000138.5(FBN1):c.8252_8253dup (p.Ser2752Ter)
|
rs1555393565
|
|
NM_000138.5(FBN1):c.8256T>C (p.Ser2752=)
|
rs2141210112
|
|
NM_000138.5(FBN1):c.8259del (p.Ala2754fs)
|
rs1597506905
|
|
NM_000138.5(FBN1):c.8260del (p.Ala2754fs)
|
|
|
NM_000138.5(FBN1):c.8265_8266delinsAGGA (p.Ser2755fs)
|
rs727504651
|
|
NM_000138.5(FBN1):c.8267G>A (p.Trp2756Ter)
|
rs397515861
|
|
NM_000138.5(FBN1):c.8267G>C (p.Trp2756Ser)
|
rs397515861
|
|
NM_000138.5(FBN1):c.8268G>A (p.Trp2756Ter)
|
rs267606796
|
|
NM_000138.5(FBN1):c.8270A>G (p.Asp2757Gly)
|
rs1060501088
|
|
NM_000138.5(FBN1):c.8270A>T (p.Asp2757Val)
|
rs1060501088
|
|
NM_000138.5(FBN1):c.8277G>A (p.Glu2759=)
|
rs1597506888
|
|
NM_000138.5(FBN1):c.8282del (p.Thr2761fs)
|
|
|
NM_000138.5(FBN1):c.8285C>A (p.Ala2762Asp)
|
|
|
NM_000138.5(FBN1):c.8293G>A (p.Ala2765Thr)
|
|
|
NM_000138.5(FBN1):c.8297del (p.Phe2766fs)
|
|
|
NM_000138.5(FBN1):c.830A>T (p.His277Leu)
|
|
|
NM_000138.5(FBN1):c.8312_8327dup (p.Arg2776_Ile2777insGlnTer)
|
rs2141210000
|
|
NM_000138.5(FBN1):c.8312dup (p.Ser2772fs)
|
rs1555393560
|
|
NM_000138.5(FBN1):c.831del (p.His277fs)
|
rs2043994405
|
|
NM_000138.5(FBN1):c.8323del (p.Val2775fs)
|
rs2141210009
|
|
NM_000138.5(FBN1):c.8329del (p.Ile2777fs)
|
rs1566888689
|
|
NM_000138.5(FBN1):c.8330T>A (p.Ile2777Asn)
|
rs1555393556
|
|
NM_000138.5(FBN1):c.8330T>C (p.Ile2777Thr)
|
rs1555393556
|
|
NM_000138.5(FBN1):c.8333T>G (p.Leu2778Arg)
|
rs1555393553
|
|
NM_000138.5(FBN1):c.8335G>T (p.Glu2779Ter)
|
rs1555393551
|
|
NM_000138.5(FBN1):c.8336A>C (p.Glu2779Ala)
|
|
|
NM_000138.5(FBN1):c.8338dup (p.Leu2780fs)
|
rs2042860621
|
|
NM_000138.5(FBN1):c.8339T>C (p.Leu2780Pro)
|
rs869025417
|
|
NM_000138.5(FBN1):c.8347G>C (p.Ala2783Pro)
|
rs2141209966
|
|
NM_000138.5(FBN1):c.8348C>A (p.Ala2783Asp)
|
rs2141209965
|
|
NM_000138.5(FBN1):c.8356A>G (p.Thr2786Ala)
|
rs781352764
|
|
NM_000138.5(FBN1):c.8359C>G (p.Leu2787Val)
|
|
|
NM_000138.5(FBN1):c.835C>G (p.Leu279Val)
|
|
|
NM_000138.5(FBN1):c.8369A>G (p.His2790Arg)
|
rs1271078955
|
|
NM_000138.5(FBN1):c.8371A>C (p.Asn2791His)
|
|
|
NM_000138.5(FBN1):c.8377T>C (p.Tyr2793His)
|
rs113722038
|
|
NM_000138.5(FBN1):c.8378A>G (p.Tyr2793Cys)
|
rs397515863
|
|
NM_000138.5(FBN1):c.8384T>A (p.Ile2795Asn)
|
rs2042859661
|
|
NM_000138.5(FBN1):c.8385C>A (p.Ile2795=)
|
rs138574576
|
|
NM_000138.5(FBN1):c.8393G>A (p.Gly2798Glu)
|
rs1060501049
|
|
NM_000138.5(FBN1):c.8396del (p.Asn2799fs)
|
rs1555393540
|
|
NM_000138.5(FBN1):c.8398dup (p.Glu2800fs)
|
rs2141209879
|
|
NM_000138.5(FBN1):c.8401G>C (p.Asp2801His)
|
rs868087455
|
|
NM_000138.5(FBN1):c.8402A>G (p.Asp2801Gly)
|
|
|
NM_000138.5(FBN1):c.8405G>A (p.Gly2802Asp)
|
rs770484928
|
|
NM_000138.5(FBN1):c.8405G>T (p.Gly2802Val)
|
|
|
NM_000138.5(FBN1):c.8409C>G (p.Phe2803Leu)
|
|
|
NM_000138.5(FBN1):c.8412_8417del (p.Lys2805_Ile2806del)
|
rs193922246
|
|
NM_000138.5(FBN1):c.8416dup (p.Ile2806fs)
|
rs1555393538
|
|
NM_000138.5(FBN1):c.8417T>A (p.Ile2806Asn)
|
rs2141209854
|
|
NM_000138.5(FBN1):c.841_842insT (p.Glu281fs)
|
rs886039034
|
|
NM_000138.5(FBN1):c.8423A>G (p.Gln2808Arg)
|
|
|
NM_000138.5(FBN1):c.8428del (p.Glu2810fs)
|
rs1555393535
|
|
NM_000138.5(FBN1):c.8432G>A (p.Gly2811Glu)
|
rs2042858918
|
|
NM_000138.5(FBN1):c.8435T>C (p.Ile2812Thr)
|
rs2042858844
|
|
NM_000138.5(FBN1):c.8437A>T (p.Ser2813Cys)
|
rs2042858812
|
|
NM_000138.5(FBN1):c.8438G>A (p.Ser2813Asn)
|
|
|
NM_000138.5(FBN1):c.843A>T (p.Glu281Asp)
|
rs772218768
|
|
NM_000138.5(FBN1):c.8442C>A (p.Tyr2814Ter)
|
|
|
NM_000138.5(FBN1):c.8444T>A (p.Leu2815His)
|
rs113170280
|
|
NM_000138.5(FBN1):c.8444T>C (p.Leu2815Pro)
|
|
|
NM_000138.5(FBN1):c.8447A>C (p.His2816Pro)
|
rs1555393532
|
|
NM_000138.5(FBN1):c.8456dup (p.Lys2820fs)
|
rs2141209783
|
|
NM_000138.5(FBN1):c.846G>A (p.Val282=)
|
rs2043994063
|
|
NM_000138.5(FBN1):c.8471C>A (p.Ala2824Asp)
|
rs1060501084
|
|
NM_000138.5(FBN1):c.8473_8475del (p.Gly2825del)
|
rs727504454
|
|
NM_000138.5(FBN1):c.8474G>T (p.Gly2825Val)
|
|
|
NM_000138.5(FBN1):c.8477C>G (p.Thr2826Ser)
|
rs748384979
|
|
NM_000138.5(FBN1):c.8477_8478insATAG (p.Thr2826_Tyr2827insTer)
|
rs2042858025
|
|
NM_000138.5(FBN1):c.8478del (p.Tyr2827fs)
|
|
|
NM_000138.5(FBN1):c.8479del (p.Tyr2827fs)
|
rs1555393525
|
|
NM_000138.5(FBN1):c.8480A>C (p.Tyr2827Ser)
|
rs794728287
|
|
NM_000138.5(FBN1):c.8483C>A (p.Ser2828Ter)
|
|
|
NM_000138.5(FBN1):c.8483C>G (p.Ser2828Ter)
|
rs397515864
|
|
NM_000138.5(FBN1):c.8488C>T (p.Gln2830Ter)
|
rs886038795
|
|
NM_000138.5(FBN1):c.8491A>T (p.Ile2831Phe)
|
rs1555393524
|
|
NM_000138.5(FBN1):c.8491del (p.Ile2831fs)
|
|
|
NM_000138.5(FBN1):c.8492T>G (p.Ile2831Ser)
|
rs1555393523
|
|
NM_000138.5(FBN1):c.8496T>C (p.Ser2832=)
|
rs1216871823
|
|
NM_000138.5(FBN1):c.8497A>G (p.Ser2833Gly)
|
|
|
NM_000138.5(FBN1):c.8499del (p.Ser2833fs)
|
rs2141209667
|
|
NM_000138.5(FBN1):c.849A>G (p.Ser283=)
|
rs2141353586
|
|
NM_000138.5(FBN1):c.8500A>G (p.Thr2834Ala)
|
rs1284038548
|
|
NM_000138.5(FBN1):c.8506C>T (p.Leu2836Phe)
|
|
|
NM_000138.5(FBN1):c.8507T>A (p.Leu2836His)
|
rs2141209638
|
|
NM_000138.5(FBN1):c.8512A>T (p.Lys2838Ter)
|
rs1597506641
|
|
NM_000138.5(FBN1):c.8512_8526A[5]GAAAGAACTTGGAGGAGGAGCCAAGATGGCCGAATAGGAACAGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAACTT[1] (p.Asn2843delinsGlyGlyGlyAlaLysMetAlaGluTer)
|
|
|
NM_000138.5(FBN1):c.8516dup (p.Lys2840fs)
|
rs1555393514
|
|
NM_000138.5(FBN1):c.8521G>A (p.Glu2841Lys)
|
rs587782948
|
|
NM_000138.5(FBN1):c.8521G>T (p.Glu2841Ter)
|
rs587782948
|
|
NM_000138.5(FBN1):c.8522A>T (p.Glu2841Val)
|
|
|
NM_000138.5(FBN1):c.8523A>T (p.Glu2841Asp)
|
|
|
NM_000138.5(FBN1):c.8525_8529del (p.Leu2842fs)
|
rs1064794130
|
|
NM_000138.5(FBN1):c.8530C>T (p.Gln2844Ter)
|
rs1555393510
|
|
NM_000138.5(FBN1):c.8536G>A (p.Glu2846Lys)
|
rs1555393508
|
|
NM_000138.5(FBN1):c.8536G>C (p.Glu2846Gln)
|
rs1555393508
|
|
NM_000138.5(FBN1):c.8536G>T (p.Glu2846Ter)
|
rs1555393508
|
|
NM_000138.5(FBN1):c.8543A>G (p.Lys2848Arg)
|
rs765839151
|
|
NM_000138.5(FBN1):c.8543_8544del (p.Lys2848fs)
|
rs794728323
|
|
NM_000138.5(FBN1):c.8544A>C (p.Lys2848Asn)
|
rs2042856933
|
|
NM_000138.5(FBN1):c.8544del (p.Lys2848fs)
|
rs794728323
|
|
NM_000138.5(FBN1):c.8544dup (p.Tyr2849fs)
|
rs794728323
|
|
NM_000138.5(FBN1):c.8546_8547del (p.Lys2848_Tyr2849insTer)
|
|
|
NM_000138.5(FBN1):c.8554_8561delinsTATCAC (p.Asp2852fs)
|
rs2141209520
|
|
NM_000138.5(FBN1):c.8555A>G (p.Asp2852Gly)
|
rs773653099
|
|
NM_000138.5(FBN1):c.8557T>C (p.Tyr2853His)
|
|
|
NM_000138.5(FBN1):c.855del (p.Lys285fs)
|
rs2141353573
|
|
NM_000138.5(FBN1):c.8561del (p.Leu2854fs)
|
rs1060501033
|
|
NM_000138.5(FBN1):c.8562del (p.Ser2855fs)
|
|
|
NM_000138.5(FBN1):c.8576del (p.Gly2859fs)
|
rs2141209492
|
|
NM_000138.5(FBN1):c.8579A>G (p.Asp2860Gly)
|
rs368599541
|
|
NM_000138.5(FBN1):c.8582A>T (p.Asn2861Ile)
|
rs747213800
|
|
NM_000138.5(FBN1):c.8586G>A (p.Leu2862=)
|
rs2042856515
|
|
NM_000138.5(FBN1):c.8591T>A (p.Met2864Lys)
|
rs1060501028
|
|
NM_000138.5(FBN1):c.8591T>C (p.Met2864Thr)
|
rs1060501028
|
|
NM_000138.5(FBN1):c.8592G>A (p.Met2864Ile)
|
|
|
NM_000138.5(FBN1):c.8596dup (p.Ile2866fs)
|
rs1597506547
|
|
NM_000138.5(FBN1):c.8597T>A (p.Ile2866Asn)
|
rs1597506544
|
|
NM_000138.5(FBN1):c.859G>A (p.Glu287Lys)
|
|
|
NM_000138.5(FBN1):c.859G>T (p.Glu287Ter)
|
rs1597591602
|
|
NM_000138.5(FBN1):c.8600A>C (p.Gln2867Pro)
|
rs397515865
|
|
NM_000138.5(FBN1):c.8601G>A (p.Gln2867=)
|
rs2141209442
|
|
NM_000138.5(FBN1):c.8605_8606del (p.Leu2869fs)
|
rs397515866
|
|
NM_000138.5(FBN1):c.860A>G (p.Glu287Gly)
|
rs1555401454
|
|
NM_000138.5(FBN1):c.862+13A>C
|
rs2043993776
|
|
NM_000138.5(FBN1):c.862+14T>G
|
|
|
NM_000138.5(FBN1):c.862G>A (p.Asp288Asn)
|
|
|
NM_000138.5(FBN1):c.863-10del
|
rs748672558
|
|
NM_000138.5(FBN1):c.863-10dup
|
rs748672558
|
|
NM_000138.5(FBN1):c.863-2A>G
|
|
|
NM_000138.5(FBN1):c.863-7A>G
|
rs771131700
|
|
NM_000138.5(FBN1):c.865A>G (p.Ile289Val)
|
|
|
NM_000138.5(FBN1):c.868G>T (p.Asp290Tyr)
|
|
|
NM_000138.5(FBN1):c.871G>T (p.Glu291Ter)
|
rs1232880706
|
|
NM_000138.5(FBN1):c.872A>T (p.Glu291Val)
|
|
|
NM_000138.5(FBN1):c.87G>T (p.Leu29Phe)
|
|
|
NM_000138.5(FBN1):c.890G>A (p.Gly297Glu)
|
|
|
NM_000138.5(FBN1):c.897_898del (p.Cys299_Glu300delinsTer)
|
rs2141343447
|
|
NM_000138.5(FBN1):c.8G>A (p.Arg3Gln)
|
rs149929989
|
|
NM_000138.5(FBN1):c.902G>C (p.Gly301Ala)
|
rs142888621
|
|
NM_000138.5(FBN1):c.905G>A (p.Gly302Asp)
|
|
|
NM_000138.5(FBN1):c.905G>T (p.Gly302Val)
|
rs779866501
|
|
NM_000138.5(FBN1):c.905del (p.Gly302fs)
|
rs2043913021
|
|
NM_000138.5(FBN1):c.907G>A (p.Glu303Lys)
|
rs1566919661
|
|
NM_000138.5(FBN1):c.90G>T (p.Glu30Asp)
|
rs778831047
|
|
NM_000138.5(FBN1):c.916_919del (p.Asn306fs)
|
rs1597587532
|
|
NM_000138.5(FBN1):c.917del (p.Asn306fs)
|
rs1064793637
|
|
NM_000138.5(FBN1):c.920_921del (p.Thr307fs)
|
|
|
NM_000138.5(FBN1):c.925del (p.Ser309fs)
|
rs2141343395
|
|
NM_000138.5(FBN1):c.928A>C (p.Ser310Arg)
|
|
|
NM_000138.5(FBN1):c.929G>C (p.Ser310Thr)
|
|
|
NM_000138.5(FBN1):c.933C>G (p.Tyr311Ter)
|
rs2141343382
|
|
NM_000138.5(FBN1):c.936T>C (p.Phe312=)
|
|
|
NM_000138.5(FBN1):c.937T>C (p.Cys313Arg)
|
rs2141343372
|
|
NM_000138.5(FBN1):c.938G>T (p.Cys313Phe)
|
rs2141343367
|
|
NM_000138.5(FBN1):c.939C>G (p.Cys313Trp)
|
rs1555401007
|
|
NM_000138.5(FBN1):c.943T>C (p.Cys315Arg)
|
|
|
NM_000138.5(FBN1):c.945del (p.Pro317fs)
|
rs2141343351
|
|
NM_000138.5(FBN1):c.946C>A (p.Pro316Thr)
|
rs756687172
|
|
NM_000138.5(FBN1):c.947C>A (p.Pro316His)
|
|
|
NM_000138.5(FBN1):c.948C>A (p.Pro316=)
|
|
|
NM_000138.5(FBN1):c.953del (p.Gly318fs)
|
|
|
NM_000138.5(FBN1):c.958dup (p.Tyr320fs)
|
rs397515867
|
|
NM_000138.5(FBN1):c.959dup (p.Tyr320Ter)
|
rs1555401005
|
|
NM_000138.5(FBN1):c.960C>A (p.Tyr320Ter)
|
rs1555401004
|
|
NM_000138.5(FBN1):c.961_962del (p.Thr321fs)
|
rs1555401002
|
|
NM_000138.5(FBN1):c.962C>T (p.Thr321Ile)
|
rs2043911873
|
|
NM_000138.5(FBN1):c.963C>G (p.Thr321=)
|
rs767914958
|
|
NM_000138.5(FBN1):c.972T>C (p.Asp324=)
|
|
|
NM_000138.5(FBN1):c.974_983del (p.Gly325fs)
|
rs1566919599
|
|
NM_000138.5(FBN1):c.978del (p.Arg327fs)
|
rs1060501094
|
|
NM_000138.5(FBN1):c.979A>G (p.Arg327Gly)
|
rs1597587453
|
|
NM_000138.5(FBN1):c.988+13A>G
|
|
|
NM_000138.5(FBN1):c.988+14C>A
|
|
|
NM_000138.5(FBN1):c.988+16A>G
|
|
|
NM_000138.5(FBN1):c.988+16A>T
|
|
|
NM_000138.5(FBN1):c.988+16_988+26del
|
|
|
NM_000138.5(FBN1):c.988+20G>T
|
rs375760654
|
|
NM_000138.5(FBN1):c.989-10T>A
|
|
|
NM_000138.5(FBN1):c.989-20A>G
|
|
|
NM_000138.5(FBN1):c.98A>G (p.Asn33Ser)
|
rs2140787661
|
|
NM_000138.5:c.(7204+1_7205-1)_(7819+1_7820-1)del
|
|
|
Single allele
|
|
|
t(9;15)(p13.3;q21.1)
|
|
|