NM_000138.5(FBN1):c.3509G>A (p.Arg1170His)
|
rs137854475
|
0.00168
|
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.2956G>A (p.Ala986Thr)
|
rs112287730
|
0.00107
|
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.2934C>G (p.Asp978Glu)
|
rs138438849
|
0.00070
|
NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp)
|
rs61746008
|
0.00070
|
NM_000138.5(FBN1):c.7346A>G (p.Asn2449Ser)
|
rs146166400
|
0.00049
|
NM_000138.5(FBN1):c.1265G>A (p.Gly422Glu)
|
rs139968089
|
0.00035
|
NM_000138.5(FBN1):c.8363C>T (p.Thr2788Met)
|
rs143007898
|
0.00031
|
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.2187A>C (p.Leu729=)
|
rs61730055
|
0.00026
|
NM_000138.5(FBN1):c.539-15del
|
rs193922211
|
0.00026
|
NM_000138.5(FBN1):c.7338C>T (p.Asn2446=)
|
rs140178192
|
0.00025
|
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.6705A>C (p.Gly2235=)
|
rs2229326
|
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.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.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.3936C>T (p.Ser1312=)
|
rs779913610
|
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.8232G>A (p.Gln2744=)
|
rs376119827
|
0.00013
|
NM_000138.5(FBN1):c.3798T>C (p.Tyr1266=)
|
rs112987543
|
0.00012
|
NM_000138.5(FBN1):c.1323A>G (p.Pro441=)
|
rs202030761
|
0.00011
|
NM_000138.5(FBN1):c.1821T>C (p.Asp607=)
|
rs149133920
|
0.00011
|
NM_000138.5(FBN1):c.1838-6C>T
|
rs374629233
|
0.00011
|
NM_000138.5(FBN1):c.2289C>T (p.Cys763=)
|
rs181311020
|
0.00011
|
NM_000138.5(FBN1):c.7560G>A (p.Thr2520=)
|
rs760425899
|
0.00011
|
NM_000138.5(FBN1):c.1345G>A (p.Val449Ile)
|
rs139058991
|
0.00009
|
NM_000138.5(FBN1):c.2232G>C (p.Gly744=)
|
rs762745991
|
0.00009
|
NM_000138.5(FBN1):c.5225-13T>G
|
rs367786211
|
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.2928C>T (p.Arg976=)
|
rs761997019
|
0.00008
|
NM_000138.5(FBN1):c.3171C>T (p.Ser1057=)
|
rs144400069
|
0.00008
|
NM_000138.5(FBN1):c.6038-15_6038-14del
|
rs752198920
|
0.00008
|
NM_000138.5(FBN1):c.1363T>C (p.Leu455=)
|
rs557954342
|
0.00007
|
NM_000138.5(FBN1):c.2772C>T (p.Gly924=)
|
rs539699143
|
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.1316G>A (p.Arg439Gln)
|
rs568810058
|
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.3464-6C>T
|
rs375596551
|
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.6164-3C>T
|
rs571365493
|
0.00006
|
NM_000138.5(FBN1):c.6302C>T (p.Thr2101Met)
|
rs200816828
|
0.00006
|
NM_000138.5(FBN1):c.6834C>T (p.Pro2278=)
|
rs397515839
|
0.00006
|
NM_000138.5(FBN1):c.7516G>A (p.Gly2506Ser)
|
rs756295016
|
0.00006
|
NM_000138.5(FBN1):c.7902C>T (p.Pro2634=)
|
rs138621371
|
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.1272A>G (p.Gln424=)
|
rs763710172
|
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.6852T>C (p.Pro2284=)
|
rs201226058
|
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.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.1884C>T (p.Cys628=)
|
rs150421653
|
0.00004
|
NM_000138.5(FBN1):c.2290G>A (p.Val764Ile)
|
rs769641351
|
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.3246C>T (p.Gly1082=)
|
rs138855754
|
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.3837A>G (p.Val1279=)
|
rs59007872
|
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.4337-9C>T
|
rs201001403
|
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.5724A>G (p.Thr1908=)
|
rs141219664
|
0.00004
|
NM_000138.5(FBN1):c.6038-15A>C
|
rs774279350
|
0.00004
|
NM_000138.5(FBN1):c.6052G>A (p.Val2018Ile)
|
rs363802
|
0.00004
|
NM_000138.5(FBN1):c.6497-11G>A
|
rs183200505
|
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.8004C>T (p.Gly2668=)
|
rs371285755
|
0.00004
|
NM_000138.5(FBN1):c.8542A>C (p.Lys2848Gln)
|
rs199846998
|
0.00004
|
NM_000138.5(FBN1):c.1158C>T (p.Asn386=)
|
rs368737502
|
0.00003
|
NM_000138.5(FBN1):c.1277C>T (p.Pro426Leu)
|
rs146044644
|
0.00003
|
NM_000138.5(FBN1):c.164+5A>G
|
rs397515760
|
0.00003
|
NM_000138.5(FBN1):c.1668G>A (p.Val556=)
|
rs761662654
|
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.2729-8C>G
|
rs775257418
|
0.00003
|
NM_000138.5(FBN1):c.2745A>G (p.Glu915=)
|
rs1285398012
|
0.00003
|
NM_000138.5(FBN1):c.3216C>T (p.Asp1072=)
|
rs757177349
|
0.00003
|
NM_000138.5(FBN1):c.3480G>A (p.Glu1160=)
|
rs149625173
|
0.00003
|
NM_000138.5(FBN1):c.378A>G (p.Gly126=)
|
rs149611106
|
0.00003
|
NM_000138.5(FBN1):c.3906A>G (p.Ser1302=)
|
rs756186103
|
0.00003
|
NM_000138.5(FBN1):c.4337-5C>G
|
rs370959127
|
0.00003
|
NM_000138.5(FBN1):c.4413G>A (p.Glu1471=)
|
rs756143911
|
0.00003
|
NM_000138.5(FBN1):c.4460-9C>T
|
rs372753740
|
0.00003
|
NM_000138.5(FBN1):c.4583-11A>G
|
rs780024463
|
0.00003
|
NM_000138.5(FBN1):c.4650C>T (p.Ser1550=)
|
rs933962712
|
0.00003
|
NM_000138.5(FBN1):c.4719T>C (p.Pro1573=)
|
rs761947423
|
0.00003
|
NM_000138.5(FBN1):c.4803C>T (p.Thr1601=)
|
rs747757998
|
0.00003
|
NM_000138.5(FBN1):c.5066-7C>G
|
rs377369765
|
0.00003
|
NM_000138.5(FBN1):c.5466C>T (p.Ala1822=)
|
rs947248042
|
0.00003
|
NM_000138.5(FBN1):c.5517C>T (p.Tyr1839=)
|
rs750667880
|
0.00003
|
NM_000138.5(FBN1):c.5841C>T (p.Cys1947=)
|
rs151181806
|
0.00003
|
NM_000138.5(FBN1):c.6819G>A (p.Met2273Ile)
|
rs778027769
|
0.00003
|
NM_000138.5(FBN1):c.6903C>T (p.Ile2301=)
|
rs146930301
|
0.00003
|
NM_000138.5(FBN1):c.7395T>C (p.Ser2465=)
|
rs774341590
|
0.00003
|
NM_000138.5(FBN1):c.7677T>C (p.Asp2559=)
|
rs182358927
|
0.00003
|
NM_000138.5(FBN1):c.7842T>G (p.Ala2614=)
|
rs764496589
|
0.00003
|
NM_000138.5(FBN1):c.7872C>T (p.Asn2624=)
|
rs539185798
|
0.00003
|
NM_000138.5(FBN1):c.8069T>G (p.Met2690Arg)
|
rs747476726
|
0.00003
|
NM_000138.5(FBN1):c.8202C>T (p.Asn2734=)
|
rs113904256
|
0.00003
|
NM_000138.5(FBN1):c.8433G>A (p.Gly2811=)
|
rs771873118
|
0.00003
|
NM_000138.5(FBN1):c.8616A>G (p.Ter2872=)
|
rs374499193
|
0.00003
|
NM_000138.5(FBN1):c.-11G>T
|
rs1230427056
|
0.00002
|
NM_000138.5(FBN1):c.1468+4C>T
|
rs765579667
|
0.00002
|
NM_000138.5(FBN1):c.1566A>G (p.Thr522=)
|
rs531264662
|
0.00002
|
NM_000138.5(FBN1):c.1961-7T>C
|
rs878853675
|
0.00002
|
NM_000138.5(FBN1):c.2154G>A (p.Thr718=)
|
rs377033515
|
0.00002
|
NM_000138.5(FBN1):c.2502T>A (p.Ser834=)
|
rs754372754
|
0.00002
|
NM_000138.5(FBN1):c.2678-14G>A
|
rs369475895
|
0.00002
|
NM_000138.5(FBN1):c.2911A>G (p.Ile971Val)
|
rs766660415
|
0.00002
|
NM_000138.5(FBN1):c.2949C>T (p.Ser983=)
|
rs769307676
|
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.3504T>C (p.Asn1168=)
|
rs768688637
|
0.00002
|
NM_000138.5(FBN1):c.3513C>T (p.Cys1171=)
|
rs775417975
|
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.4488G>A (p.Thr1496=)
|
rs370494288
|
0.00002
|
NM_000138.5(FBN1):c.4748-6C>T
|
rs376611471
|
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.6045T>C (p.Asp2015=)
|
rs779825421
|
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.6379+4A>G
|
rs780370404
|
0.00002
|
NM_000138.5(FBN1):c.6387C>T (p.Asp2129=)
|
rs147342485
|
0.00002
|
NM_000138.5(FBN1):c.6616+5A>G
|
rs1381778697
|
0.00002
|
NM_000138.5(FBN1):c.6872-12A>G
|
rs568325297
|
0.00002
|
NM_000138.5(FBN1):c.7335G>C (p.Leu2445=)
|
rs754460527
|
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=)
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|
|
NM_000138.5(FBN1):c.2721A>G (p.Gln907=)
|
rs781062880
|
|
NM_000138.5(FBN1):c.2729-17dup
|
rs35314876
|
|
NM_000138.5(FBN1):c.2729-3del
|
rs756503206
|
|
NM_000138.5(FBN1):c.2729-9del
|
rs35314876
|
|
NM_000138.5(FBN1):c.2793G>C (p.Gly931=)
|
rs775785545
|
|
NM_000138.5(FBN1):c.2817T>C (p.Ser939=)
|
rs1254659886
|
|
NM_000138.5(FBN1):c.2820A>T (p.Gly940=)
|
|
|
NM_000138.5(FBN1):c.2904C>T (p.Thr968=)
|
rs2043544643
|
|
NM_000138.5(FBN1):c.2913T>C (p.Ile971=)
|
rs2141297416
|
|
NM_000138.5(FBN1):c.2922C>G (p.Arg974=)
|
rs2043544318
|
|
NM_000138.5(FBN1):c.2922C>T (p.Arg974=)
|
rs2043544318
|
|
NM_000138.5(FBN1):c.2934C>T (p.Asp978=)
|
rs138438849
|
|
NM_000138.5(FBN1):c.2952C>A (p.Val984=)
|
rs374670384
|
|
NM_000138.5(FBN1):c.2952C>T (p.Val984=)
|
rs374670384
|
|
NM_000138.5(FBN1):c.2976A>G (p.Glu992=)
|
rs755477434
|
|
NM_000138.5(FBN1):c.2982G>A (p.Glu994=)
|
rs758745637
|
|
NM_000138.5(FBN1):c.3012C>T (p.Tyr1004=)
|
rs397515784
|
|
NM_000138.5(FBN1):c.3027G>A (p.Pro1009=)
|
rs774381427
|
|
NM_000138.5(FBN1):c.3063T>C (p.Asn1021=)
|
rs2043541978
|
|
NM_000138.5(FBN1):c.3078C>T (p.Phe1026=)
|
rs553411757
|
|
NM_000138.5(FBN1):c.3083-10A>G
|
|
|
NM_000138.5(FBN1):c.3123C>T (p.His1041=)
|
rs576395584
|
|
NM_000138.5(FBN1):c.3210C>T (p.Asp1070=)
|
rs754970748
|
|
NM_000138.5(FBN1):c.3273G>A (p.Gly1091=)
|
|
|
NM_000138.5(FBN1):c.3351T>C (p.Cys1117=)
|
|
|
NM_000138.5(FBN1):c.336C>T (p.Gly112=)
|
rs1555405526
|
|
NM_000138.5(FBN1):c.33G>A (p.Leu11=)
|
rs1164486664
|
|
NM_000138.5(FBN1):c.3423G>C (p.Pro1141=)
|
rs140396599
|
|
NM_000138.5(FBN1):c.3464-14T>C
|
rs2043515652
|
|
NM_000138.5(FBN1):c.3464-16_3464-14del
|
rs775944757
|
|
NM_000138.5(FBN1):c.3464-5_3464-3delinsAAT
|
rs2043515456
|
|
NM_000138.5(FBN1):c.347-19CTT[2]
|
rs756583965
|
|
NM_000138.5(FBN1):c.347-5del
|
rs561135562
|
|
NM_000138.5(FBN1):c.3493C>T (p.Leu1165=)
|
rs2043515081
|
|
NM_000138.5(FBN1):c.3507C>T (p.Gly1169=)
|
rs2043514898
|
|
NM_000138.5(FBN1):c.3555C>A (p.Gly1185=)
|
|
|
NM_000138.5(FBN1):c.3573T>C (p.Asp1191=)
|
rs150912619
|
|
NM_000138.5(FBN1):c.3575G>A (p.Arg1192Lys)
|
rs751764864
|
|
NM_000138.5(FBN1):c.3590-11A>G
|
rs777262423
|
|
NM_000138.5(FBN1):c.3600A>G (p.Glu1200=)
|
|
|
NM_000138.5(FBN1):c.3636C>T (p.Cys1212=)
|
rs2043497888
|
|
NM_000138.5(FBN1):c.3639A>G (p.Thr1213=)
|
|
|
NM_000138.5(FBN1):c.3648A>G (p.Glu1216=)
|
rs2043497802
|
|
NM_000138.5(FBN1):c.3685C>T (p.Leu1229=)
|
rs1352354877
|
|
NM_000138.5(FBN1):c.3713-3C>T
|
rs2043485821
|
|
NM_000138.5(FBN1):c.3771C>T (p.Ile1257=)
|
rs2043485175
|
|
NM_000138.5(FBN1):c.3780G>A (p.Glu1260=)
|
|
|
NM_000138.5(FBN1):c.3801T>C (p.Asp1267=)
|
rs769208631
|
|
NM_000138.5(FBN1):c.3876A>C (p.Leu1292=)
|
|
|
NM_000138.5(FBN1):c.3897G>C (p.Thr1299=)
|
rs771283158
|
|
NM_000138.5(FBN1):c.3965-11C>A
|
rs748242564
|
|
NM_000138.5(FBN1):c.3965-15dup
|
rs2043405703
|
|
NM_000138.5(FBN1):c.3965-5T>C
|
|
|
NM_000138.5(FBN1):c.3975A>G (p.Glu1325=)
|
rs1555397741
|
|
NM_000138.5(FBN1):c.3990A>G (p.Ala1330=)
|
rs1566906555
|
|
NM_000138.5(FBN1):c.4011T>C (p.Ala1337=)
|
|
|
NM_000138.5(FBN1):c.4023T>C (p.Asn1341=)
|
rs2043404831
|
|
NM_000138.5(FBN1):c.4035C>T (p.Ser1345=)
|
rs1400471354
|
|
NM_000138.5(FBN1):c.4074C>A (p.Gly1358=)
|
rs2043404070
|
|
NM_000138.5(FBN1):c.4088-6T>C
|
rs902902435
|
|
NM_000138.5(FBN1):c.4155A>T (p.Gly1385=)
|
rs2141279769
|
|
NM_000138.5(FBN1):c.4194T>C (p.Asp1398=)
|
rs2043401428
|
|
NM_000138.5(FBN1):c.4206T>C (p.Cys1402=)
|
rs2141279643
|
|
NM_000138.5(FBN1):c.4337-11C>G
|
rs201012099
|
|
NM_000138.5(FBN1):c.4337-12C>T
|
rs573468967
|
|
NM_000138.5(FBN1):c.4337-15C>T
|
rs760625906
|
|
NM_000138.5(FBN1):c.4337-4dup
|
rs1566905439
|
|
NM_000138.5(FBN1):c.4337-7C>T
|
rs2043367095
|
|
NM_000138.5(FBN1):c.4337-9C>G
|
rs201001403
|
|
NM_000138.5(FBN1):c.4404C>T (p.Phe1468=)
|
rs780479561
|
|
NM_000138.5(FBN1):c.443-8T>C
|
rs1319616777
|
|
NM_000138.5(FBN1):c.4503C>T (p.Asn1501=)
|
rs2043341420
|
|
NM_000138.5(FBN1):c.4583-12T>C
|
rs1326100045
|
|
NM_000138.5(FBN1):c.4583-8G>C
|
rs910464222
|
|
NM_000138.5(FBN1):c.4593T>C (p.Ser1531=)
|
rs985992262
|
|
NM_000138.5(FBN1):c.465C>T (p.Leu155=)
|
|
|
NM_000138.5(FBN1):c.4713T>A (p.Gly1571=)
|
rs1363175789
|
|
NM_000138.5(FBN1):c.4748-3T>C
|
rs770762644
|
|
NM_000138.5(FBN1):c.4749C>T (p.Ser1583=)
|
rs1275608178
|
|
NM_000138.5(FBN1):c.4776G>A (p.Gly1592=)
|
|
|
NM_000138.5(FBN1):c.477G>A (p.Arg159=)
|
rs1456579664
|
|
NM_000138.5(FBN1):c.4791A>C (p.Pro1597=)
|
rs2043316050
|
|
NM_000138.5(FBN1):c.4817-3T>C
|
rs2141269791
|
|
NM_000138.5(FBN1):c.4817-5G>A
|
rs2043315019
|
|
NM_000138.5(FBN1):c.4836G>A (p.Glu1612=)
|
rs1468665879
|
|
NM_000138.5(FBN1):c.4860A>C (p.Gly1620=)
|
|
|
NM_000138.5(FBN1):c.4863A>G (p.Lys1621=)
|
rs2043314687
|
|
NM_000138.5(FBN1):c.4905C>T (p.Thr1635=)
|
rs113115949
|
|
NM_000138.5(FBN1):c.4930C>A (p.Arg1644=)
|
rs140630
|
|
NM_000138.5(FBN1):c.4998C>T (p.Thr1666=)
|
rs141925790
|
|
NM_000138.5(FBN1):c.5001T>C (p.Val1667=)
|
rs2043300751
|
|
NM_000138.5(FBN1):c.5004C>G (p.Gly1668=)
|
rs1272960714
|
|
NM_000138.5(FBN1):c.5066-12C>T
|
rs531105331
|
|
NM_000138.5(FBN1):c.5066-13A>T
|
rs1167489368
|
|
NM_000138.5(FBN1):c.5066-13_5066-12delinsTAA
|
rs2043294261
|
|
NM_000138.5(FBN1):c.5066-14del
|
rs3833018
|
|
NM_000138.5(FBN1):c.5080T>C (p.Leu1694=)
|
rs2043294030
|
|
NM_000138.5(FBN1):c.5109C>T (p.Asn1703=)
|
rs1235270306
|
|
NM_000138.5(FBN1):c.5151G>A (p.Lys1717=)
|
rs201772841
|
|
NM_000138.5(FBN1):c.519T>C (p.Thr173=)
|
rs2044514992
|
|
NM_000138.5(FBN1):c.5225-15G>A
|
rs2141264061
|
|
NM_000138.5(FBN1):c.5271C>T (p.Ile1757=)
|
rs1291913287
|
|
NM_000138.5(FBN1):c.5297-4C>G
|
rs2043241739
|
|
NM_000138.5(FBN1):c.5358T>C (p.Val1786=)
|
rs1057521207
|
|
NM_000138.5(FBN1):c.5373T>C (p.Cys1791=)
|
rs1555396426
|
|
NM_000138.5(FBN1):c.5382A>G (p.Pro1794=)
|
|
|
NM_000138.5(FBN1):c.5407T>C (p.Leu1803=)
|
rs1597540825
|
|
NM_000138.5(FBN1):c.5409G>A (p.Leu1803=)
|
rs906226501
|
|
NM_000138.5(FBN1):c.543C>T (p.Tyr181=)
|
rs1597593852
|
|
NM_000138.5(FBN1):c.552C>A (p.Gly184=)
|
rs2044026882
|
|
NM_000138.5(FBN1):c.555A>G (p.Pro185=)
|
rs1597593844
|
|
NM_000138.5(FBN1):c.5589G>A (p.Gly1863=)
|
rs1566899552
|
|
NM_000138.5(FBN1):c.5607T>C (p.Val1869=)
|
rs1597535252
|
|
NM_000138.5(FBN1):c.5697C>T (p.Ala1899=)
|
rs772617187
|
|
NM_000138.5(FBN1):c.5718G>C (p.Arg1906=)
|
rs1403178913
|
|
NM_000138.5(FBN1):c.5788+4C>A
|
rs577301285
|
|
NM_000138.5(FBN1):c.5789-13G>A
|
rs777593835
|
|
NM_000138.5(FBN1):c.5838A>G (p.Gln1946=)
|
rs759049300
|
|
NM_000138.5(FBN1):c.5850A>G (p.Thr1950=)
|
rs2043151355
|
|
NM_000138.5(FBN1):c.5856G>C (p.Gly1952=)
|
rs763490270
|
|
NM_000138.5(FBN1):c.5859T>C (p.Ser1953=)
|
rs2043151177
|
|
NM_000138.5(FBN1):c.5925T>C (p.Asn1975=)
|
rs1555395667
|
|
NM_000138.5(FBN1):c.5994C>T (p.Cys1998=)
|
rs1555395648
|
|
NM_000138.5(FBN1):c.600C>T (p.Ser200=)
|
|
|
NM_000138.5(FBN1):c.6038-13G>T
|
rs536742402
|
|
NM_000138.5(FBN1):c.6054C>G (p.Val2018=)
|
rs542953863
|
|
NM_000138.5(FBN1):c.6084A>G (p.Thr2028=)
|
rs1597529803
|
|
NM_000138.5(FBN1):c.6105C>T (p.Ser2035=)
|
rs2043116979
|
|
NM_000138.5(FBN1):c.6156G>A (p.Arg2052=)
|
|
|
NM_000138.5(FBN1):c.621G>A (p.Thr207=)
|
rs765173237
|
|
NM_000138.5(FBN1):c.621G>T (p.Thr207=)
|
rs765173237
|
|
NM_000138.5(FBN1):c.6314-6C>T
|
rs2141240971
|
|
NM_000138.5(FBN1):c.6380-12delinsTG
|
rs2043078856
|
|
NM_000138.5(FBN1):c.6380-20dup
|
rs768078387
|
|
NM_000138.5(FBN1):c.6432T>C (p.Asn2144=)
|
rs1191949195
|
|
NM_000138.5(FBN1):c.6444C>T (p.Ser2148=)
|
rs771170047
|
|
NM_000138.5(FBN1):c.6478G>A (p.Ala2160Thr)
|
rs2043077484
|
|
NM_000138.5(FBN1):c.6497-15C>T
|
rs569535886
|
|
NM_000138.5(FBN1):c.6609A>T (p.Thr2203=)
|
rs547573220
|
|
NM_000138.5(FBN1):c.6617-10T>C
|
rs2043036193
|
|
NM_000138.5(FBN1):c.6617-7G>A
|
rs2043036160
|
|
NM_000138.5(FBN1):c.6681A>T (p.Ser2227=)
|
rs363824
|
|
NM_000138.5(FBN1):c.6708T>C (p.Tyr2236=)
|
rs2043034940
|
|
NM_000138.5(FBN1):c.6740-15G>T
|
rs2043018499
|
|
NM_000138.5(FBN1):c.6801C>T (p.Asn2267=)
|
rs886051245
|
|
NM_000138.5(FBN1):c.6807T>A (p.Ile2269=)
|
rs1566894280
|
|
NM_000138.5(FBN1):c.6807T>C (p.Ile2269=)
|
rs1566894280
|
|
NM_000138.5(FBN1):c.6813A>G (p.Thr2271=)
|
rs2043017412
|
|
NM_000138.5(FBN1):c.6832C>G (p.Pro2278Ala)
|
rs363835
|
|
NM_000138.5(FBN1):c.6891G>C (p.Thr2297=)
|
|
|
NM_000138.5(FBN1):c.6987C>T (p.Asp2329=)
|
rs363831
|
|
NM_000138.5(FBN1):c.6998-11_6998-10dup
|
rs781182393
|
|
NM_000138.5(FBN1):c.7050C>T (p.Ile2350=)
|
rs772287755
|
|
NM_000138.5(FBN1):c.7086A>G (p.Glu2362=)
|
rs2141228998
|
|
NM_000138.5(FBN1):c.7137T>A (p.Pro2379=)
|
|
|
NM_000138.5(FBN1):c.7158C>T (p.Phe2386=)
|
rs1334850076
|
|
NM_000138.5(FBN1):c.7200A>T (p.Gly2400=)
|
|
|
NM_000138.5(FBN1):c.7236T>C (p.Val2412=)
|
rs1306021418
|
|
NM_000138.5(FBN1):c.7239C>T (p.Cys2413=)
|
rs2042975041
|
|
NM_000138.5(FBN1):c.723G>A (p.Thr241=)
|
rs757264206
|
|
NM_000138.5(FBN1):c.726A>T (p.Gly242=)
|
|
|
NM_000138.5(FBN1):c.7299C>T (p.Tyr2433=)
|
rs1566892872
|
|
NM_000138.5(FBN1):c.7305A>G (p.Pro2435=)
|
rs2042974267
|
|
NM_000138.5(FBN1):c.7350G>A (p.Gln2450=)
|
rs2141226473
|
|
NM_000138.5(FBN1):c.7353T>C (p.Ala2451=)
|
rs2042971907
|
|
NM_000138.5(FBN1):c.737-19_737-16del
|
rs748812494
|
|
NM_000138.5(FBN1):c.7428G>A (p.Leu2476=)
|
rs1229985371
|
|
NM_000138.5(FBN1):c.7454-11T>A
|
rs2042948219
|
|
NM_000138.5(FBN1):c.7454-12A>C
|
rs762905968
|
|
NM_000138.5(FBN1):c.7485C>T (p.Asn2495=)
|
rs2042947523
|
|
NM_000138.5(FBN1):c.7497A>C (p.Leu2499=)
|
rs148516442
|
|
NM_000138.5(FBN1):c.7506C>T (p.Asn2502=)
|
|
|
NM_000138.5(FBN1):c.7515C>T (p.Gly2505=)
|
rs374570475
|
|
NM_000138.5(FBN1):c.7530A>G (p.Lys2510=)
|
rs754992689
|
|
NM_000138.5(FBN1):c.7571-5C>T
|
rs1232021292
|
|
NM_000138.5(FBN1):c.7602G>T (p.Leu2534=)
|
rs1392530685
|
|
NM_000138.5(FBN1):c.7700-14T>C
|
rs2042935295
|
|
NM_000138.5(FBN1):c.7700-9C>T
|
rs772261791
|
|
NM_000138.5(FBN1):c.7710G>A (p.Glu2570=)
|
rs748055037
|
|
NM_000138.5(FBN1):c.7728C>T (p.Arg2576=)
|
rs751226629
|
|
NM_000138.5(FBN1):c.7788C>T (p.Tyr2596=)
|
rs1555394142
|
|
NM_000138.5(FBN1):c.7803G>A (p.Gln2601=)
|
|
|
NM_000138.5(FBN1):c.7881G>A (p.Gly2627=)
|
rs397515858
|
|
NM_000138.5(FBN1):c.7935A>G (p.Gly2645=)
|
rs778534209
|
|
NM_000138.5(FBN1):c.7938C>T (p.Cys2646=)
|
rs2042897617
|
|
NM_000138.5(FBN1):c.7941A>G (p.Gln2647=)
|
rs1566889905
|
|
NM_000138.5(FBN1):c.8011C>T (p.Leu2671=)
|
rs886051244
|
|
NM_000138.5(FBN1):c.8082A>C (p.Arg2694=)
|
rs1597507799
|
|
NM_000138.5(FBN1):c.8148C>T (p.Tyr2716=)
|
rs112642323
|
|
NM_000138.5(FBN1):c.8157G>A (p.Lys2719=)
|
rs2042872810
|
|
NM_000138.5(FBN1):c.8169C>T (p.Tyr2723=)
|
rs768231402
|
|
NM_000138.5(FBN1):c.8185A>C (p.Lys2729Gln)
|
rs370096856
|
|
NM_000138.5(FBN1):c.8208T>C (p.Thr2736=)
|
rs2042872033
|
|
NM_000138.5(FBN1):c.8226+3G>A
|
rs764898769
|
|
NM_000138.5(FBN1):c.8301T>C (p.Asn2767=)
|
rs1402600765
|
|
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