NM_000138.5(FBN1):c.3509G>A (p.Arg1170His)
|
rs137854475
|
0.00168
|
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.8176C>T (p.Arg2726Trp)
|
rs61746008
|
0.00070
|
NM_000138.5(FBN1):c.3422C>T (p.Pro1141Leu)
|
rs2228241
|
0.00054
|
NM_000138.5(FBN1):c.7346A>G (p.Asn2449Ser)
|
rs146166400
|
0.00049
|
NM_000138.5(FBN1):c.2895G>A (p.Glu965=)
|
rs140591
|
0.00038
|
NM_000138.5(FBN1):c.1265G>A (p.Gly422Glu)
|
rs139968089
|
0.00035
|
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala)
|
rs201273753
|
0.00034
|
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.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.2187A>C (p.Leu729=)
|
rs61730055
|
0.00026
|
NM_000138.5(FBN1):c.539-15del
|
rs193922211
|
0.00026
|
NM_000138.5(FBN1):c.5423-4G>A
|
rs377036485
|
0.00026
|
NM_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.1027G>A (p.Gly343Arg)
|
rs146726731
|
0.00021
|
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.6342A>C (p.Gly2114=)
|
rs374705586
|
0.00017
|
NM_000138.5(FBN1):c.59A>G (p.Tyr20Cys)
|
rs201309310
|
0.00016
|
NM_000138.5(FBN1):c.8027C>T (p.Pro2676Leu)
|
rs146469379
|
0.00016
|
NM_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.1571C>T (p.Thr524Met)
|
rs370575495
|
0.00014
|
NM_000138.5(FBN1):c.3936C>T (p.Ser1312=)
|
rs779913610
|
0.00014
|
NM_000138.5(FBN1):c.3964+19A>G
|
rs181287036
|
0.00014
|
NM_000138.5(FBN1):c.4001G>A (p.Gly1334Asp)
|
rs191989961
|
0.00014
|
NM_000138.5(FBN1):c.6288C>T (p.Cys2096=)
|
rs144822241
|
0.00014
|
NM_000138.5(FBN1):c.736+9G>A
|
rs368241741
|
0.00014
|
NM_000138.5(FBN1):c.7661G>A (p.Arg2554Gln)
|
rs199522781
|
0.00014
|
NM_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.6576C>T (p.Cys2192=)
|
rs369058466
|
0.00012
|
NM_000138.5(FBN1):c.1323A>G (p.Pro441=)
|
rs202030761
|
0.00011
|
NM_000138.5(FBN1):c.1821T>C (p.Asp607=)
|
rs149133920
|
0.00011
|
NM_000138.5(FBN1):c.1838-6C>T
|
rs374629233
|
0.00011
|
NM_000138.5(FBN1):c.2289C>T (p.Cys763=)
|
rs181311020
|
0.00011
|
NM_000138.5(FBN1):c.3964+12C>T
|
rs371986991
|
0.00011
|
NM_000138.5(FBN1):c.4214T>G (p.Leu1405Arg)
|
rs767606368
|
0.00011
|
NM_000138.5(FBN1):c.7560G>A (p.Thr2520=)
|
rs760425899
|
0.00011
|
NM_000138.5(FBN1):c.2094G>T (p.Pro698=)
|
rs144775475
|
0.00010
|
NM_000138.5(FBN1):c.3082+9T>A
|
rs746303949
|
0.00010
|
NM_000138.5(FBN1):c.1588+20C>T
|
rs376488308
|
0.00009
|
NM_000138.5(FBN1):c.2232G>C (p.Gly744=)
|
rs762745991
|
0.00009
|
NM_000138.5(FBN1):c.3337+11G>A
|
rs368726848
|
0.00009
|
NM_000138.5(FBN1):c.4342G>A (p.Asp1448Asn)
|
rs371377334
|
0.00009
|
NM_000138.5(FBN1):c.5225-13T>G
|
rs367786211
|
0.00009
|
NM_000138.5(FBN1):c.5296+12C>T
|
rs566030960
|
0.00009
|
NM_000138.5(FBN1):c.7266A>G (p.Arg2422=)
|
rs532737688
|
0.00009
|
NM_000138.5(FBN1):c.942A>G (p.Lys314=)
|
rs376965275
|
0.00009
|
NM_000138.5(FBN1):c.2079G>A (p.Gly693=)
|
rs374174497
|
0.00008
|
NM_000138.5(FBN1):c.2928C>T (p.Arg976=)
|
rs761997019
|
0.00008
|
NM_000138.5(FBN1):c.3171C>T (p.Ser1057=)
|
rs144400069
|
0.00008
|
NM_000138.5(FBN1):c.3226A>C (p.Ile1076Leu)
|
rs201156527
|
0.00008
|
NM_000138.5(FBN1):c.3429C>A (p.Gly1143=)
|
rs151232024
|
0.00008
|
NM_000138.5(FBN1):c.5297-19A>G
|
rs375665466
|
0.00008
|
NM_000138.5(FBN1):c.6038-15_6038-14del
|
rs752198920
|
0.00008
|
NM_000138.5(FBN1):c.1327+12A>G
|
rs764788168
|
0.00007
|
NM_000138.5(FBN1):c.1363T>C (p.Leu455=)
|
rs557954342
|
0.00007
|
NM_000138.5(FBN1):c.5963C>T (p.Thr1988Ile)
|
rs142912485
|
0.00007
|
NM_000138.5(FBN1):c.6372A>G (p.Ser2124=)
|
rs397515832
|
0.00007
|
NM_000138.5(FBN1):c.6942C>T (p.Tyr2314=)
|
rs372967546
|
0.00007
|
NM_000138.5(FBN1):c.124G>C (p.Ala42Pro)
|
rs377722423
|
0.00006
|
NM_000138.5(FBN1):c.1961-14T>C
|
rs373918202
|
0.00006
|
NM_000138.5(FBN1):c.2434G>A (p.Glu812Lys)
|
rs201778577
|
0.00006
|
NM_000138.5(FBN1):c.273T>C (p.Asp91=)
|
rs375450755
|
0.00006
|
NM_000138.5(FBN1):c.2793G>T (p.Gly931=)
|
rs775785545
|
0.00006
|
NM_000138.5(FBN1):c.2835C>T (p.Ala945=)
|
rs140389544
|
0.00006
|
NM_000138.5(FBN1):c.2901C>T (p.Cys967=)
|
rs755610084
|
0.00006
|
NM_000138.5(FBN1):c.3082+13G>A
|
rs757559866
|
0.00006
|
NM_000138.5(FBN1):c.3464-6C>T
|
rs375596551
|
0.00006
|
NM_000138.5(FBN1):c.4150A>G (p.Met1384Val)
|
rs775543440
|
0.00006
|
NM_000138.5(FBN1):c.4337-14T>C
|
rs78068079
|
0.00006
|
NM_000138.5(FBN1):c.4875C>G (p.Thr1625=)
|
rs140628
|
0.00006
|
NM_000138.5(FBN1):c.4986A>G (p.Thr1662=)
|
rs753705796
|
0.00006
|
NM_000138.5(FBN1):c.4998C>G (p.Thr1666=)
|
rs141925790
|
0.00006
|
NM_000138.5(FBN1):c.5066-13dup
|
rs774517414
|
0.00006
|
NM_000138.5(FBN1):c.5097C>T (p.Tyr1699=)
|
rs368979510
|
0.00006
|
NM_000138.5(FBN1):c.5516A>T (p.Tyr1839Phe)
|
rs758725993
|
0.00006
|
NM_000138.5(FBN1):c.6164-3C>T
|
rs571365493
|
0.00006
|
NM_000138.5(FBN1):c.6302C>T (p.Thr2101Met)
|
rs200816828
|
0.00006
|
NM_000138.5(FBN1):c.6834C>T (p.Pro2278=)
|
rs397515839
|
0.00006
|
NM_000138.5(FBN1):c.7204+7C>G
|
rs371763964
|
0.00006
|
NM_000138.5(FBN1):c.7516G>A (p.Gly2506Ser)
|
rs756295016
|
0.00006
|
NM_000138.5(FBN1):c.8071G>A (p.Gly2691Ser)
|
rs145105768
|
0.00006
|
NM_000138.5(FBN1):c.8310C>T (p.His2770=)
|
rs112189340
|
0.00006
|
NM_000138.5(FBN1):c.988+20G>A
|
rs375760654
|
0.00006
|
NM_000138.5(FBN1):c.1147+7G>A
|
rs373156788
|
0.00005
|
NM_000138.5(FBN1):c.1272A>G (p.Gln424=)
|
rs763710172
|
0.00005
|
NM_000138.5(FBN1):c.2445T>G (p.Pro815=)
|
rs368004231
|
0.00005
|
NM_000138.5(FBN1):c.247+10T>C
|
rs367618012
|
0.00005
|
NM_000138.5(FBN1):c.2927G>A (p.Arg976His)
|
rs140954477
|
0.00005
|
NM_000138.5(FBN1):c.346+16C>T
|
rs369090026
|
0.00005
|
NM_000138.5(FBN1):c.4321G>A (p.Gly1441Arg)
|
rs372118067
|
0.00005
|
NM_000138.5(FBN1):c.6699C>T (p.Pro2233=)
|
rs372386014
|
0.00005
|
NM_000138.5(FBN1):c.6852T>C (p.Pro2284=)
|
rs201226058
|
0.00005
|
NM_000138.5(FBN1):c.7964C>T (p.Ala2655Val)
|
rs202240409
|
0.00005
|
NM_000138.5(FBN1):c.7965G>A (p.Ala2655=)
|
rs199887650
|
0.00005
|
NM_000138.5(FBN1):c.8149G>A (p.Glu2717Lys)
|
rs187553035
|
0.00005
|
NM_000138.5(FBN1):c.83A>G (p.Asn28Ser)
|
rs193922245
|
0.00005
|
NM_000138.5(FBN1):c.1116C>T (p.Val372=)
|
rs774193938
|
0.00004
|
NM_000138.5(FBN1):c.1242T>G (p.Pro414=)
|
rs371929738
|
0.00004
|
NM_000138.5(FBN1):c.1290A>G (p.Pro430=)
|
rs749526018
|
0.00004
|
NM_000138.5(FBN1):c.1602T>C (p.Cys534=)
|
rs377386372
|
0.00004
|
NM_000138.5(FBN1):c.1880G>A (p.Arg627His)
|
rs746073643
|
0.00004
|
NM_000138.5(FBN1):c.1884C>T (p.Cys628=)
|
rs150421653
|
0.00004
|
NM_000138.5(FBN1):c.2075T>A (p.Phe692Tyr)
|
rs955639059
|
0.00004
|
NM_000138.5(FBN1):c.2168-19G>T
|
rs777612162
|
0.00004
|
NM_000138.5(FBN1):c.2168-6G>A
|
rs200924505
|
0.00004
|
NM_000138.5(FBN1):c.2419+13T>A
|
rs372885314
|
0.00004
|
NM_000138.5(FBN1):c.2596A>G (p.Ile866Val)
|
rs794728329
|
0.00004
|
NM_000138.5(FBN1):c.2600A>G (p.Asn867Ser)
|
rs145464311
|
0.00004
|
NM_000138.5(FBN1):c.2637C>T (p.Leu879=)
|
rs202163602
|
0.00004
|
NM_000138.5(FBN1):c.3246C>T (p.Gly1082=)
|
rs138855754
|
0.00004
|
NM_000138.5(FBN1):c.3295G>A (p.Glu1099Lys)
|
rs763485521
|
0.00004
|
NM_000138.5(FBN1):c.3415G>C (p.Glu1139Gln)
|
rs780972853
|
0.00004
|
NM_000138.5(FBN1):c.3462C>T (p.Ile1154=)
|
rs144339604
|
0.00004
|
NM_000138.5(FBN1):c.347-15T>C
|
rs749417882
|
0.00004
|
NM_000138.5(FBN1):c.3503A>G (p.Asn1168Ser)
|
rs776667707
|
0.00004
|
NM_000138.5(FBN1):c.3838+20T>C
|
rs772287702
|
0.00004
|
NM_000138.5(FBN1):c.3896C>T (p.Thr1299Met)
|
rs774851476
|
0.00004
|
NM_000138.5(FBN1):c.405A>G (p.Leu135=)
|
rs187254268
|
0.00004
|
NM_000138.5(FBN1):c.4095C>T (p.Asp1365=)
|
rs375402043
|
0.00004
|
NM_000138.5(FBN1):c.4163G>A (p.Arg1388His)
|
rs749196340
|
0.00004
|
NM_000138.5(FBN1):c.4336+7G>T
|
rs760603409
|
0.00004
|
NM_000138.5(FBN1):c.4337-9C>T
|
rs201001403
|
0.00004
|
NM_000138.5(FBN1):c.4371C>T (p.Val1457=)
|
rs781641370
|
0.00004
|
NM_000138.5(FBN1):c.4804G>A (p.Val1602Ile)
|
rs780957696
|
0.00004
|
NM_000138.5(FBN1):c.492T>C (p.Asn164=)
|
rs778007582
|
0.00004
|
NM_000138.5(FBN1):c.538+4A>G
|
rs375721252
|
0.00004
|
NM_000138.5(FBN1):c.5442C>T (p.Asn1814=)
|
rs397515822
|
0.00004
|
NM_000138.5(FBN1):c.5717G>A (p.Arg1906Gln)
|
rs774798866
|
0.00004
|
NM_000138.5(FBN1):c.5724A>G (p.Thr1908=)
|
rs141219664
|
0.00004
|
NM_000138.5(FBN1):c.5842A>G (p.Ile1948Val)
|
rs766850261
|
0.00004
|
NM_000138.5(FBN1):c.5921T>C (p.Ile1974Thr)
|
rs765878996
|
0.00004
|
NM_000138.5(FBN1):c.6052G>A (p.Val2018Ile)
|
rs363802
|
0.00004
|
NM_000138.5(FBN1):c.6055G>A (p.Glu2019Lys)
|
rs377149130
|
0.00004
|
NM_000138.5(FBN1):c.6497-11G>A
|
rs183200505
|
0.00004
|
NM_000138.5(FBN1):c.7210G>A (p.Asp2404Asn)
|
rs530059069
|
0.00004
|
NM_000138.5(FBN1):c.7230C>T (p.His2410=)
|
rs193922231
|
0.00004
|
NM_000138.5(FBN1):c.7700-13G>C
|
rs775509707
|
0.00004
|
NM_000138.5(FBN1):c.7819+15C>T
|
rs772164887
|
0.00004
|
NM_000138.5(FBN1):c.8004C>T (p.Gly2668=)
|
rs371285755
|
0.00004
|
NM_000138.5(FBN1):c.8542A>C (p.Lys2848Gln)
|
rs199846998
|
0.00004
|
NM_000138.5(FBN1):c.1158C>T (p.Asn386=)
|
rs368737502
|
0.00003
|
NM_000138.5(FBN1):c.1277C>T (p.Pro426Leu)
|
rs146044644
|
0.00003
|
NM_000138.5(FBN1):c.139G>A (p.Gly47Ser)
|
rs762400500
|
0.00003
|
NM_000138.5(FBN1):c.1668G>A (p.Val556=)
|
rs761662654
|
0.00003
|
NM_000138.5(FBN1):c.1747C>T (p.Leu583Phe)
|
rs767293952
|
0.00003
|
NM_000138.5(FBN1):c.2056G>A (p.Ala686Thr)
|
rs377621293
|
0.00003
|
NM_000138.5(FBN1):c.2142G>A (p.Gly714=)
|
rs1423523072
|
0.00003
|
NM_000138.5(FBN1):c.2658G>A (p.Pro886=)
|
rs193922192
|
0.00003
|
NM_000138.5(FBN1):c.2728+20A>C
|
rs765993846
|
0.00003
|
NM_000138.5(FBN1):c.2729-8C>G
|
rs775257418
|
0.00003
|
NM_000138.5(FBN1):c.2735A>G (p.Asp912Gly)
|
rs754919275
|
0.00003
|
NM_000138.5(FBN1):c.3216C>T (p.Asp1072=)
|
rs757177349
|
0.00003
|
NM_000138.5(FBN1):c.3480G>A (p.Glu1160=)
|
rs149625173
|
0.00003
|
NM_000138.5(FBN1):c.3523A>G (p.Ile1175Val)
|
rs756754760
|
0.00003
|
NM_000138.5(FBN1):c.378A>G (p.Gly126=)
|
rs149611106
|
0.00003
|
NM_000138.5(FBN1):c.3906A>G (p.Ser1302=)
|
rs756186103
|
0.00003
|
NM_000138.5(FBN1):c.4337-5C>G
|
rs370959127
|
0.00003
|
NM_000138.5(FBN1):c.4413G>A (p.Glu1471=)
|
rs756143911
|
0.00003
|
NM_000138.5(FBN1):c.442+15G>T
|
rs369470506
|
0.00003
|
NM_000138.5(FBN1):c.442+19T>C
|
rs757466131
|
0.00003
|
NM_000138.5(FBN1):c.4460-9C>T
|
rs372753740
|
0.00003
|
NM_000138.5(FBN1):c.4583-11A>G
|
rs780024463
|
0.00003
|
NM_000138.5(FBN1):c.4650C>T (p.Ser1550=)
|
rs933962712
|
0.00003
|
NM_000138.5(FBN1):c.4719T>C (p.Pro1573=)
|
rs761947423
|
0.00003
|
NM_000138.5(FBN1):c.4803C>T (p.Thr1601=)
|
rs747757998
|
0.00003
|
NM_000138.5(FBN1):c.5066-7C>G
|
rs377369765
|
0.00003
|
NM_000138.5(FBN1):c.5466C>T (p.Ala1822=)
|
rs947248042
|
0.00003
|
NM_000138.5(FBN1):c.5671+7A>G
|
rs751170564
|
0.00003
|
NM_000138.5(FBN1):c.5841C>T (p.Cys1947=)
|
rs151181806
|
0.00003
|
NM_000138.5(FBN1):c.6189G>A (p.Ala2063=)
|
rs375624881
|
0.00003
|
NM_000138.5(FBN1):c.6314-16A>G
|
rs759468929
|
0.00003
|
NM_000138.5(FBN1):c.6314-17G>A
|
rs370991477
|
0.00003
|
NM_000138.5(FBN1):c.6338A>T (p.Tyr2113Phe)
|
rs363816
|
0.00003
|
NM_000138.5(FBN1):c.7395T>C (p.Ser2465=)
|
rs774341590
|
0.00003
|
NM_000138.5(FBN1):c.7677T>C (p.Asp2559=)
|
rs182358927
|
0.00003
|
NM_000138.5(FBN1):c.7842T>G (p.Ala2614=)
|
rs764496589
|
0.00003
|
NM_000138.5(FBN1):c.7872C>T (p.Asn2624=)
|
rs539185798
|
0.00003
|
NM_000138.5(FBN1):c.8069T>G (p.Met2690Arg)
|
rs747476726
|
0.00003
|
NM_000138.5(FBN1):c.8202C>T (p.Asn2734=)
|
rs113904256
|
0.00003
|
NM_000138.5(FBN1):c.8433G>A (p.Gly2811=)
|
rs771873118
|
0.00003
|
NM_000138.5(FBN1):c.8616A>G (p.Ter2872=)
|
rs374499193
|
0.00003
|
NM_000138.5(FBN1):c.1147+20T>C
|
rs746088095
|
0.00002
|
NM_000138.5(FBN1):c.1547G>A (p.Arg516Gln)
|
rs775489067
|
0.00002
|
NM_000138.5(FBN1):c.1562G>A (p.Ser521Asn)
|
rs749253325
|
0.00002
|
NM_000138.5(FBN1):c.1566A>G (p.Thr522=)
|
rs531264662
|
0.00002
|
NM_000138.5(FBN1):c.164+9A>G
|
rs773997652
|
0.00002
|
NM_000138.5(FBN1):c.1692A>T (p.Thr564=)
|
rs1323581379
|
0.00002
|
NM_000138.5(FBN1):c.1961-7T>C
|
rs878853675
|
0.00002
|
NM_000138.5(FBN1):c.19C>T (p.Leu7=)
|
rs139161583
|
0.00002
|
NM_000138.5(FBN1):c.2093C>T (p.Pro698Leu)
|
rs764827921
|
0.00002
|
NM_000138.5(FBN1):c.2154G>A (p.Thr718=)
|
rs377033515
|
0.00002
|
NM_000138.5(FBN1):c.2419+7C>T
|
rs773155136
|
0.00002
|
NM_000138.5(FBN1):c.2502T>A (p.Ser834=)
|
rs754372754
|
0.00002
|
NM_000138.5(FBN1):c.2678-14G>A
|
rs369475895
|
0.00002
|
NM_000138.5(FBN1):c.2855-10C>T
|
rs1044021136
|
0.00002
|
NM_000138.5(FBN1):c.2878C>T (p.Leu960=)
|
rs1469750878
|
0.00002
|
NM_000138.5(FBN1):c.2883G>T (p.Arg961Ser)
|
rs142964120
|
0.00002
|
NM_000138.5(FBN1):c.2911A>G (p.Ile971Val)
|
rs766660415
|
0.00002
|
NM_000138.5(FBN1):c.2949C>T (p.Ser983=)
|
rs769307676
|
0.00002
|
NM_000138.5(FBN1):c.2950G>A (p.Val984Ile)
|
rs747713929
|
0.00002
|
NM_000138.5(FBN1):c.3142A>G (p.Ile1048Val)
|
rs2229324
|
0.00002
|
NM_000138.5(FBN1):c.3359A>T (p.Asp1120Val)
|
rs1183556572
|
0.00002
|
NM_000138.5(FBN1):c.3374G>A (p.Arg1125Gln)
|
rs768831064
|
0.00002
|
NM_000138.5(FBN1):c.3410G>A (p.Arg1137His)
|
rs137854456
|
0.00002
|
NM_000138.5(FBN1):c.3453C>T (p.Ser1151=)
|
rs748759748
|
0.00002
|
NM_000138.5(FBN1):c.3456G>A (p.Ala1152=)
|
rs777442762
|
0.00002
|
NM_000138.5(FBN1):c.347-16C>G
|
rs752093190
|
0.00002
|
NM_000138.5(FBN1):c.3513C>T (p.Cys1171=)
|
rs775417975
|
0.00002
|
NM_000138.5(FBN1):c.3777A>C (p.Gly1259=)
|
rs1404903351
|
0.00002
|
NM_000138.5(FBN1):c.3785G>A (p.Arg1262Lys)
|
rs371103773
|
0.00002
|
NM_000138.5(FBN1):c.4026A>G (p.Thr1342=)
|
rs752154066
|
0.00002
|
NM_000138.5(FBN1):c.4088-5A>G
|
rs534913868
|
0.00002
|
NM_000138.5(FBN1):c.4488G>A (p.Thr1496=)
|
rs370494288
|
0.00002
|
NM_000138.5(FBN1):c.468T>C (p.Asn156=)
|
rs757577615
|
0.00002
|
NM_000138.5(FBN1):c.4748-6C>T
|
rs376611471
|
0.00002
|
NM_000138.5(FBN1):c.4842A>G (p.Pro1614=)
|
rs779362502
|
0.00002
|
NM_000138.5(FBN1):c.4999G>A (p.Val1667Ile)
|
rs140626
|
0.00002
|
NM_000138.5(FBN1):c.5190C>T (p.Asn1730=)
|
rs765997414
|
0.00002
|
NM_000138.5(FBN1):c.5292C>T (p.Pro1764=)
|
rs111756438
|
0.00002
|
NM_000138.5(FBN1):c.5423-5C>T
|
rs368750818
|
0.00002
|
NM_000138.5(FBN1):c.5443G>A (p.Gly1815Ser)
|
rs745680336
|
0.00002
|
NM_000138.5(FBN1):c.5463C>T (p.Asn1821=)
|
rs753966383
|
0.00002
|
NM_000138.5(FBN1):c.5467G>A (p.Glu1823Lys)
|
rs567397762
|
0.00002
|
NM_000138.5(FBN1):c.5918-12T>G
|
rs751115639
|
0.00002
|
NM_000138.5(FBN1):c.6129G>C (p.Gly2043=)
|
rs766473100
|
0.00002
|
NM_000138.5(FBN1):c.6180C>T (p.Tyr2060=)
|
rs974604498
|
0.00002
|
NM_000138.5(FBN1):c.62C>T (p.Thr21Met)
|
rs1489806847
|
0.00002
|
NM_000138.5(FBN1):c.6379+11T>C
|
rs370322263
|
0.00002
|
NM_000138.5(FBN1):c.6379+4A>G
|
rs780370404
|
0.00002
|
NM_000138.5(FBN1):c.6387C>T (p.Asp2129=)
|
rs147342485
|
0.00002
|
NM_000138.5(FBN1):c.6872-12A>G
|
rs568325297
|
0.00002
|
NM_000138.5(FBN1):c.6998-7C>T
|
rs764823572
|
0.00002
|
NM_000138.5(FBN1):c.7231G>A (p.Asp2411Asn)
|
rs775558051
|
0.00002
|
NM_000138.5(FBN1):c.7283T>C (p.Ile2428Thr)
|
rs565474071
|
0.00002
|
NM_000138.5(FBN1):c.7454-6T>C
|
rs1253572031
|
0.00002
|
NM_000138.5(FBN1):c.7501G>C (p.Val2501Leu)
|
rs371110611
|
0.00002
|
NM_000138.5(FBN1):c.7524A>G (p.Thr2508=)
|
rs201992942
|
0.00002
|
NM_000138.5(FBN1):c.7533T>C (p.Cys2511=)
|
rs750331217
|
0.00002
|
NM_000138.5(FBN1):c.7575C>T (p.Asn2525=)
|
rs759021474
|
0.00002
|
NM_000138.5(FBN1):c.7683C>T (p.Thr2561=)
|
rs758353830
|
0.00002
|
NM_000138.5(FBN1):c.7701C>T (p.Asp2567=)
|
rs368054842
|
0.00002
|
NM_000138.5(FBN1):c.8130C>T (p.Leu2710=)
|
rs372105662
|
0.00002
|
NM_000138.5(FBN1):c.8227-10G>A
|
rs765093559
|
0.00002
|
NM_000138.5(FBN1):c.832A>G (p.Lys278Glu)
|
rs775505429
|
0.00002
|
NM_000138.5(FBN1):c.8386G>A (p.Glu2796Lys)
|
rs112310699
|
0.00002
|
NM_000138.5(FBN1):c.8533C>T (p.Leu2845=)
|
rs767060377
|
0.00002
|
NM_000138.5(FBN1):c.8G>C (p.Arg3Pro)
|
rs149929989
|
0.00002
|
NM_000138.5(FBN1):c.1026C>T (p.Asn342=)
|
rs769282306
|
0.00001
|
NM_000138.5(FBN1):c.1086C>T (p.Ala362=)
|
rs1338617046
|
0.00001
|
NM_000138.5(FBN1):c.1091G>A (p.Arg364Gln)
|
rs536588176
|
0.00001
|
NM_000138.5(FBN1):c.1108G>T (p.Val370Phe)
|
rs1191931914
|
0.00001
|
NM_000138.5(FBN1):c.1117G>A (p.Ala373Thr)
|
rs766162654
|
0.00001
|
NM_000138.5(FBN1):c.1131T>C (p.Cys377=)
|
rs769211348
|
0.00001
|
NM_000138.5(FBN1):c.1147+16G>A
|
rs780632581
|
0.00001
|
NM_000138.5(FBN1):c.1167C>T (p.Cys389=)
|
rs746201757
|
0.00001
|
NM_000138.5(FBN1):c.1169C>T (p.Ser390Phe)
|
rs746385384
|
0.00001
|
NM_000138.5(FBN1):c.1215C>A (p.Pro405=)
|
rs1213208601
|
0.00001
|
NM_000138.5(FBN1):c.1235T>A (p.Val412Asp)
|
rs764925097
|
0.00001
|
NM_000138.5(FBN1):c.1289C>T (p.Pro430Leu)
|
rs771134832
|
0.00001
|
NM_000138.5(FBN1):c.1344C>T (p.Asn448=)
|
rs1281826850
|
0.00001
|
NM_000138.5(FBN1):c.1368C>G (p.Val456=)
|
rs1433264110
|
0.00001
|
NM_000138.5(FBN1):c.1373A>G (p.Tyr458Cys)
|
rs749133312
|
0.00001
|
NM_000138.5(FBN1):c.1407T>G (p.Pro469=)
|
rs1016146856
|
0.00001
|
NM_000138.5(FBN1):c.1494C>T (p.Pro498=)
|
rs765595961
|
0.00001
|
NM_000138.5(FBN1):c.1533C>T (p.Tyr511=)
|
rs1060504146
|
0.00001
|
NM_000138.5(FBN1):c.1572G>A (p.Thr524=)
|
rs1232119767
|
0.00001
|
NM_000138.5(FBN1):c.15T>C (p.Arg5=)
|
rs1371787168
|
0.00001
|
NM_000138.5(FBN1):c.1603T>A (p.Leu535Ile)
|
rs1485432119
|
0.00001
|
NM_000138.5(FBN1):c.1605A>G (p.Leu535=)
|
rs778013543
|
0.00001
|
NM_000138.5(FBN1):c.1639A>G (p.Ile547Val)
|
rs759813328
|
0.00001
|
NM_000138.5(FBN1):c.164+12G>A
|
rs571164659
|
0.00001
|
NM_000138.5(FBN1):c.164+18C>T
|
rs772382145
|
0.00001
|
NM_000138.5(FBN1):c.1647A>T (p.Thr549=)
|
rs2043746264
|
0.00001
|
NM_000138.5(FBN1):c.165-13G>A
|
rs985235880
|
0.00001
|
NM_000138.5(FBN1):c.165-7G>A
|
rs397515761
|
0.00001
|
NM_000138.5(FBN1):c.165-9T>C
|
rs758117122
|
0.00001
|
NM_000138.5(FBN1):c.1653C>T (p.Gly551=)
|
rs766565738
|
0.00001
|
NM_000138.5(FBN1):c.1694G>A (p.Arg565Gln)
|
rs763815231
|
0.00001
|
NM_000138.5(FBN1):c.1714+10G>A
|
rs760474361
|
0.00001
|
NM_000138.5(FBN1):c.1715-12T>C
|
rs1057521270
|
0.00001
|
NM_000138.5(FBN1):c.1715-14T>G
|
rs753746089
|
0.00001
|
NM_000138.5(FBN1):c.1731C>T (p.Ser577=)
|
rs1453708754
|
0.00001
|
NM_000138.5(FBN1):c.174C>A (p.Val58=)
|
rs369096927
|
0.00001
|
NM_000138.5(FBN1):c.1776C>G (p.Gly592=)
|
rs759191650
|
0.00001
|
NM_000138.5(FBN1):c.1779T>C (p.Ser593=)
|
rs372195702
|
0.00001
|
NM_000138.5(FBN1):c.1837+10A>G
|
rs2043731034
|
0.00001
|
NM_000138.5(FBN1):c.1838-7G>A
|
rs772849691
|
0.00001
|
NM_000138.5(FBN1):c.1845C>T (p.Asn615=)
|
rs932735615
|
0.00001
|
NM_000138.5(FBN1):c.1856C>A (p.Thr619Asn)
|
rs377686210
|
0.00001
|
NM_000138.5(FBN1):c.1858C>T (p.Pro620Ser)
|
rs1220853793
|
0.00001
|
NM_000138.5(FBN1):c.1960+17G>A
|
rs749990136
|
0.00001
|
NM_000138.5(FBN1):c.2020T>C (p.Leu674=)
|
rs753453348
|
0.00001
|
NM_000138.5(FBN1):c.2058C>A (p.Ala686=)
|
rs759859967
|
0.00001
|
NM_000138.5(FBN1):c.207T>C (p.Pro69=)
|
rs771057822
|
0.00001
|
NM_000138.5(FBN1):c.2082A>G (p.Glu694=)
|
rs773288488
|
0.00001
|
NM_000138.5(FBN1):c.2090A>G (p.Gln697Arg)
|
rs769708437
|
0.00001
|
NM_000138.5(FBN1):c.2113+13A>G
|
rs755529582
|
0.00001
|
NM_000138.5(FBN1):c.2113+17A>G
|
rs1246446564
|
0.00001
|
NM_000138.5(FBN1):c.2113+19A>T
|
rs541501178
|
0.00001
|
NM_000138.5(FBN1):c.2113+8G>A
|
rs763708195
|
0.00001
|
NM_000138.5(FBN1):c.2127A>C (p.Ala709=)
|
rs886038990
|
0.00001
|
NM_000138.5(FBN1):c.2228G>A (p.Arg743His)
|
rs761942436
|
0.00001
|
NM_000138.5(FBN1):c.2253T>C (p.Asn751=)
|
rs1566912218
|
0.00001
|
NM_000138.5(FBN1):c.2293+16C>G
|
rs772889439
|
0.00001
|
NM_000138.5(FBN1):c.2294-19A>C
|
rs1353634853
|
0.00001
|
NM_000138.5(FBN1):c.2349T>C (p.Asn783=)
|
rs1057522903
|
0.00001
|
NM_000138.5(FBN1):c.2393A>G (p.Tyr798Cys)
|
rs1064793112
|
0.00001
|
NM_000138.5(FBN1):c.2406A>G (p.Leu802=)
|
rs1490836069
|
0.00001
|
NM_000138.5(FBN1):c.2433C>T (p.Cys811=)
|
rs193921256
|
0.00001
|
NM_000138.5(FBN1):c.2531T>C (p.Ile844Thr)
|
rs751564716
|
0.00001
|
NM_000138.5(FBN1):c.2540-7T>C
|
rs749692510
|
0.00001
|
NM_000138.5(FBN1):c.2568T>G (p.Thr856=)
|
rs781607814
|
0.00001
|
NM_000138.5(FBN1):c.2577T>C (p.Asp859=)
|
rs779997664
|
0.00001
|
NM_000138.5(FBN1):c.2598C>T (p.Ile866=)
|
rs752457534
|
0.00001
|
NM_000138.5(FBN1):c.261T>C (p.His87=)
|
rs775220887
|
0.00001
|
NM_000138.5(FBN1):c.2628C>T (p.Cys876=)
|
rs112085967
|
0.00001
|
NM_000138.5(FBN1):c.2634C>T (p.Ser878=)
|
rs770395971
|
0.00001
|
NM_000138.5(FBN1):c.2640T>G (p.Gly880=)
|
rs1597568836
|
0.00001
|
NM_000138.5(FBN1):c.2683A>G (p.Ile895Val)
|
rs772308703
|
0.00001
|
NM_000138.5(FBN1):c.2711A>G (p.Lys904Arg)
|
rs778951277
|
0.00001
|
NM_000138.5(FBN1):c.2748G>A (p.Val916=)
|
rs1339922695
|
0.00001
|
NM_000138.5(FBN1):c.2771G>T (p.Gly924Val)
|
rs1206476337
|
0.00001
|
NM_000138.5(FBN1):c.2855-4A>G
|
rs769851513
|
0.00001
|
NM_000138.5(FBN1):c.285G>A (p.Ser95=)
|
rs745596276
|
0.00001
|
NM_000138.5(FBN1):c.2883G>A (p.Arg961=)
|
rs142964120
|
0.00001
|
NM_000138.5(FBN1):c.2886C>T (p.Tyr962=)
|
rs772108557
|
0.00001
|
NM_000138.5(FBN1):c.2979C>T (p.Cys993=)
|
rs150126098
|
0.00001
|
NM_000138.5(FBN1):c.2991C>A (p.Pro997=)
|
rs1225275544
|
0.00001
|
NM_000138.5(FBN1):c.3021G>A (p.Leu1007=)
|
rs764203356
|
0.00001
|
NM_000138.5(FBN1):c.3036C>T (p.Pro1012=)
|
rs766194667
|
0.00001
|
NM_000138.5(FBN1):c.3128A>G (p.Lys1043Arg)
|
rs137854472
|
0.00001
|
NM_000138.5(FBN1):c.3209-6G>A
|
rs942309418
|
0.00001
|
NM_000138.5(FBN1):c.3209-9T>C
|
rs1188743312
|
0.00001
|
NM_000138.5(FBN1):c.3255G>A (p.Gln1085=)
|
rs767088495
|
0.00001
|
NM_000138.5(FBN1):c.3330C>T (p.Asn1110=)
|
rs374584763
|
0.00001
|
NM_000138.5(FBN1):c.3337+20A>G
|
rs757193641
|
0.00001
|
NM_000138.5(FBN1):c.3348G>A (p.Glu1116=)
|
rs1183230087
|
0.00001
|
NM_000138.5(FBN1):c.3369A>G (p.Leu1123=)
|
rs1245413946
|
0.00001
|
NM_000138.5(FBN1):c.3464-19C>G
|
rs928322808
|
0.00001
|
NM_000138.5(FBN1):c.347-19C>A
|
rs755487996
|
0.00001
|
NM_000138.5(FBN1):c.3522C>T (p.Leu1174=)
|
rs778312047
|
0.00001
|
NM_000138.5(FBN1):c.353A>G (p.His118Arg)
|
rs765503809
|
0.00001
|
NM_000138.5(FBN1):c.3560A>G (p.His1187Arg)
|
rs193922200
|
0.00001
|
NM_000138.5(FBN1):c.3570C>T (p.Pro1190=)
|
rs188317014
|
0.00001
|
NM_000138.5(FBN1):c.3571G>A (p.Asp1191Asn)
|
rs370121450
|
0.00001
|
NM_000138.5(FBN1):c.3654C>T (p.Ser1218=)
|
rs760712674
|
0.00001
|
NM_000138.5(FBN1):c.3674C>T (p.Pro1225Leu)
|
rs775532488
|
0.00001
|
NM_000138.5(FBN1):c.3688A>C (p.Met1230Leu)
|
rs759424465
|
0.00001
|
NM_000138.5(FBN1):c.3693T>C (p.Pro1231=)
|
rs1364910158
|
0.00001
|
NM_000138.5(FBN1):c.3713-5T>C
|
rs1412125032
|
0.00001
|
NM_000138.5(FBN1):c.3717C>T (p.Ile1239=)
|
rs759387957
|
0.00001
|
NM_000138.5(FBN1):c.3762C>T (p.Cys1254=)
|
rs1555398286
|
0.00001
|
NM_000138.5(FBN1):c.3834T>C (p.Cys1278=)
|
rs886039492
|
0.00001
|
NM_000138.5(FBN1):c.3845A>G (p.Asn1282Ser)
|
rs140647
|
0.00001
|
NM_000138.5(FBN1):c.3897G>A (p.Thr1299=)
|
rs771283158
|
0.00001
|
NM_000138.5(FBN1):c.393C>T (p.Asp131=)
|
rs549054625
|
0.00001
|
NM_000138.5(FBN1):c.4056C>T (p.Pro1352=)
|
rs766969494
|
0.00001
|
NM_000138.5(FBN1):c.4059G>T (p.Gly1353=)
|
rs886038250
|
0.00001
|
NM_000138.5(FBN1):c.4075A>G (p.Ile1359Val)
|
rs202192505
|
0.00001
|
NM_000138.5(FBN1):c.4089T>C (p.Asp1363=)
|
rs751099175
|
0.00001
|
NM_000138.5(FBN1):c.4106A>G (p.Asn1369Ser)
|
rs370923981
|
0.00001
|
NM_000138.5(FBN1):c.4161C>T (p.Tyr1387=)
|
rs1332403498
|
0.00001
|
NM_000138.5(FBN1):c.4170G>A (p.Leu1390=)
|
rs1229052328
|
0.00001
|
NM_000138.5(FBN1):c.4211-18G>A
|
rs532573637
|
0.00001
|
NM_000138.5(FBN1):c.4218T>C (p.Asp1406=)
|
rs759712586
|
0.00001
|
NM_000138.5(FBN1):c.4250A>G (p.Asn1417Ser)
|
rs768531262
|
0.00001
|
NM_000138.5(FBN1):c.4251T>C (p.Asn1417=)
|
rs1428390270
|
0.00001
|
NM_000138.5(FBN1):c.426G>A (p.Gly142=)
|
rs1391070461
|
0.00001
|
NM_000138.5(FBN1):c.4272A>G (p.Pro1424=)
|
rs1187173937
|
0.00001
|
NM_000138.5(FBN1):c.4313G>A (p.Ser1438Asn)
|
rs587782945
|
0.00001
|
NM_000138.5(FBN1):c.4320C>T (p.Asp1440=)
|
rs375157552
|
0.00001
|
NM_000138.5(FBN1):c.4336+10G>C
|
rs1475499953
|
0.00001
|
NM_000138.5(FBN1):c.4337-6C>G
|
rs1225924246
|
0.00001
|
NM_000138.5(FBN1):c.4359G>A (p.Pro1453=)
|
rs748551052
|
0.00001
|
NM_000138.5(FBN1):c.4401G>T (p.Leu1467=)
|
rs747377334
|
0.00001
|
NM_000138.5(FBN1):c.442+17T>A
|
rs779385878
|
0.00001
|
NM_000138.5(FBN1):c.4428C>T (p.Tyr1476=)
|
rs767462642
|
0.00001
|
NM_000138.5(FBN1):c.4446C>T (p.Gly1482=)
|
rs772727859
|
0.00001
|
NM_000138.5(FBN1):c.4492A>G (p.Ile1498Val)
|
rs761187818
|
0.00001
|
NM_000138.5(FBN1):c.4527T>C (p.Tyr1509=)
|
rs776021250
|
0.00001
|
NM_000138.5(FBN1):c.4583-5A>C
|
rs778966916
|
0.00001
|
NM_000138.5(FBN1):c.465C>A (p.Leu155=)
|
rs1287033860
|
0.00001
|
NM_000138.5(FBN1):c.4695T>A (p.Ser1565=)
|
rs1891548285
|
0.00001
|
NM_000138.5(FBN1):c.4707C>G (p.Ala1569=)
|
rs397515813
|
0.00001
|
NM_000138.5(FBN1):c.4736C>T (p.Ala1579Val)
|
rs772009116
|
0.00001
|
NM_000138.5(FBN1):c.4747+7G>A
|
rs967122284
|
0.00001
|
NM_000138.5(FBN1):c.4748-9T>C
|
rs760640909
|
0.00001
|
NM_000138.5(FBN1):c.4817-10A>G
|
rs368644662
|
0.00001
|
NM_000138.5(FBN1):c.4824T>C (p.Asp1608=)
|
rs1057521341
|
0.00001
|
NM_000138.5(FBN1):c.4895G>A (p.Arg1632His)
|
rs756227025
|
0.00001
|
NM_000138.5(FBN1):c.4926T>C (p.Asp1642=)
|
rs140629
|
0.00001
|
NM_000138.5(FBN1):c.5007C>T (p.Asn1669=)
|
rs1267512714
|
0.00001
|
NM_000138.5(FBN1):c.5142G>A (p.Met1714Ile)
|
rs368287795
|
0.00001
|
NM_000138.5(FBN1):c.5184G>A (p.Ala1728=)
|
rs754660497
|
0.00001
|
NM_000138.5(FBN1):c.5225-19C>T
|
rs375761937
|
0.00001
|
NM_000138.5(FBN1):c.5225-7A>G
|
rs761196321
|
0.00001
|
NM_000138.5(FBN1):c.5268C>A (p.Val1756=)
|
rs764685311
|
0.00001
|
NM_000138.5(FBN1):c.5283C>T (p.Thr1761=)
|
rs373887214
|
0.00001
|
NM_000138.5(FBN1):c.5296+13G>A
|
rs781168268
|
0.00001
|
NM_000138.5(FBN1):c.5312G>A (p.Arg1771Gln)
|
rs759791896
|
0.00001
|
NM_000138.5(FBN1):c.5340A>C (p.Gly1780=)
|
rs766501385
|
0.00001
|
NM_000138.5(FBN1):c.5423-15C>A
|
rs1426894149
|
0.00001
|
NM_000138.5(FBN1):c.5430C>T (p.Asp1810=)
|
rs765338162
|
0.00001
|
NM_000138.5(FBN1):c.5441A>G (p.Asn1814Ser)
|
rs775463311
|
0.00001
|
NM_000138.5(FBN1):c.5481T>G (p.Thr1827=)
|
rs1261752884
|
0.00001
|
NM_000138.5(FBN1):c.5511C>T (p.Pro1837=)
|
rs372767912
|
0.00001
|
NM_000138.5(FBN1):c.5545+10G>C
|
rs1231571005
|
0.00001
|
NM_000138.5(FBN1):c.5546-4A>C
|
rs919423974
|
0.00001
|
NM_000138.5(FBN1):c.5585A>G (p.His1862Arg)
|
rs976161721
|
0.00001
|
NM_000138.5(FBN1):c.5596A>G (p.Ile1866Val)
|
rs367586350
|
0.00001
|
NM_000138.5(FBN1):c.5603C>T (p.Thr1868Ile)
|
rs145082616
|
0.00001
|
NM_000138.5(FBN1):c.5671+11_5671+13dup
|
rs779987733
|
0.00001
|
NM_000138.5(FBN1):c.573C>T (p.Ser191=)
|
rs749627551
|
0.00001
|
NM_000138.5(FBN1):c.5753A>G (p.His1918Arg)
|
rs993464239
|
0.00001
|
NM_000138.5(FBN1):c.5805A>C (p.Ala1935=)
|
rs755825254
|
0.00001
|
NM_000138.5(FBN1):c.5817G>A (p.Gly1939=)
|
rs767097888
|
0.00001
|
NM_000138.5(FBN1):c.5876A>G (p.Asn1959Ser)
|
rs773486280
|
0.00001
|
NM_000138.5(FBN1):c.5991A>G (p.Arg1997=)
|
rs201346996
|
0.00001
|
NM_000138.5(FBN1):c.6025G>A (p.Glu2009Lys)
|
rs773204216
|
0.00001
|
NM_000138.5(FBN1):c.6038-18C>T
|
rs767567399
|
0.00001
|
NM_000138.5(FBN1):c.6099A>G (p.Glu2033=)
|
rs1397665480
|
0.00001
|
NM_000138.5(FBN1):c.6110A>G (p.Lys2037Arg)
|
rs556131403
|
0.00001
|
NM_000138.5(FBN1):c.6147T>C (p.Ser2049=)
|
rs553959381
|
0.00001
|
NM_000138.5(FBN1):c.6163+9C>G
|
rs547396976
|
0.00001
|
NM_000138.5(FBN1):c.6187G>A (p.Ala2063Thr)
|
rs1316593215
|
0.00001
|
NM_000138.5(FBN1):c.6231T>C (p.Asn2077=)
|
rs2043085335
|
0.00001
|
NM_000138.5(FBN1):c.6315G>A (p.Glu2105=)
|
rs1478813051
|
0.00001
|
NM_000138.5(FBN1):c.6336T>C (p.Pro2112=)
|
rs772876451
|
0.00001
|
NM_000138.5(FBN1):c.6379+17G>A
|
rs1432052846
|
0.00001
|
NM_000138.5(FBN1):c.6380-19T>A
|
rs764874493
|
0.00001
|
NM_000138.5(FBN1):c.639C>T (p.Val213=)
|
rs543984363
|
0.00001
|
NM_000138.5(FBN1):c.6402C>T (p.Pro2134=)
|
rs772439885
|
0.00001
|
NM_000138.5(FBN1):c.6417T>C (p.His2139=)
|
rs551162566
|
0.00001
|
NM_000138.5(FBN1):c.6438T>C (p.Asp2146=)
|
rs1398482166
|
0.00001
|
NM_000138.5(FBN1):c.6497-12G>C
|
rs369726558
|
0.00001
|
NM_000138.5(FBN1):c.654C>G (p.Gly218=)
|
rs375181377
|
0.00001
|
NM_000138.5(FBN1):c.6609A>G (p.Thr2203=)
|
rs547573220
|
0.00001
|
NM_000138.5(FBN1):c.6616+8T>A
|
rs371898247
|
0.00001
|
NM_000138.5(FBN1):c.6617-11C>A
|
rs932325724
|
0.00001
|
NM_000138.5(FBN1):c.6675T>C (p.Tyr2225=)
|
rs1260533788
|
0.00001
|
NM_000138.5(FBN1):c.6709G>A (p.Val2237Met)
|
rs764218640
|
0.00001
|
NM_000138.5(FBN1):c.6739+10C>T
|
rs1179540326
|
0.00001
|
NM_000138.5(FBN1):c.6768T>C (p.His2256=)
|
rs1047633779
|
0.00001
|
NM_000138.5(FBN1):c.6783A>C (p.Lys2261Asn)
|
rs771716423
|
0.00001
|
NM_000138.5(FBN1):c.6835G>A (p.Gly2279Arg)
|
rs759674700
|
0.00001
|
NM_000138.5(FBN1):c.6845G>A (p.Arg2282Gln)
|
rs759696323
|
0.00001
|
NM_000138.5(FBN1):c.6859G>C (p.Glu2287Gln)
|
rs551736585
|
0.00001
|
NM_000138.5(FBN1):c.6871+12C>A
|
rs770526904
|
0.00001
|
NM_000138.5(FBN1):c.6891G>A (p.Thr2297=)
|
rs764092264
|
0.00001
|
NM_000138.5(FBN1):c.6969C>T (p.Thr2323=)
|
rs773655866
|
0.00001
|
NM_000138.5(FBN1):c.7071C>T (p.Pro2357=)
|
rs397515843
|
0.00001
|
NM_000138.5(FBN1):c.7083G>A (p.Ser2361=)
|
rs1597517953
|
0.00001
|
NM_000138.5(FBN1):c.7181G>A (p.Arg2394Gln)
|
rs199750146
|
0.00001
|
NM_000138.5(FBN1):c.7189A>G (p.Met2397Val)
|
rs774698871
|
0.00001
|
NM_000138.5(FBN1):c.7196A>G (p.Asn2399Ser)
|
rs1428791574
|
0.00001
|
NM_000138.5(FBN1):c.7204+6T>G
|
rs534417939
|
0.00001
|
NM_000138.5(FBN1):c.7209C>T (p.Ile2403=)
|
rs767903343
|
0.00001
|
NM_000138.5(FBN1):c.7257C>T (p.Val2419=)
|
rs745715311
|
0.00001
|
NM_000138.5(FBN1):c.7272A>G (p.Ser2424=)
|
rs1259699671
|
0.00001
|
NM_000138.5(FBN1):c.7317G>C (p.Gly2439=)
|
rs766871786
|
0.00001
|
NM_000138.5(FBN1):c.7330+10T>G
|
rs375569743
|
0.00001
|
NM_000138.5(FBN1):c.7330+4A>G
|
rs750677373
|
0.00001
|
NM_000138.5(FBN1):c.7330+7G>A
|
rs765544479
|
0.00001
|
NM_000138.5(FBN1):c.7335G>T (p.Leu2445=)
|
rs754460527
|
0.00001
|
NM_000138.5(FBN1):c.736+10G>T
|
rs1183919688
|
0.00001
|
NM_000138.5(FBN1):c.736+8C>T
|
rs753703175
|
0.00001
|
NM_000138.5(FBN1):c.7413G>A (p.Pro2471=)
|
rs769588855
|
0.00001
|
NM_000138.5(FBN1):c.7521C>T (p.Phe2507=)
|
rs111895751
|
0.00001
|
NM_000138.5(FBN1):c.7529A>G (p.Lys2510Arg)
|
rs767602851
|
0.00001
|
NM_000138.5(FBN1):c.7539C>T (p.Pro2513=)
|
rs144713268
|
0.00001
|
NM_000138.5(FBN1):c.756C>T (p.Ala252=)
|
rs1398534692
|
0.00001
|
NM_000138.5(FBN1):c.7570+8G>A
|
rs1215672755
|
0.00001
|
NM_000138.5(FBN1):c.7570+9G>A
|
rs745370940
|
0.00001
|
NM_000138.5(FBN1):c.7571-7C>A
|
rs1229246967
|
0.00001
|
NM_000138.5(FBN1):c.7598A>G (p.Asn2533Ser)
|
rs111231879
|
0.00001
|
NM_000138.5(FBN1):c.759C>T (p.Ile253=)
|
rs1403909880
|
0.00001
|
NM_000138.5(FBN1):c.7602G>A (p.Leu2534=)
|
rs1392530685
|
0.00001
|
NM_000138.5(FBN1):c.7605C>T (p.Cys2535=)
|
rs113544411
|
0.00001
|
NM_000138.5(FBN1):c.7617C>T (p.Gly2539=)
|
rs1388794275
|
0.00001
|
NM_000138.5(FBN1):c.762C>T (p.Pro254=)
|
rs374318726
|
0.00001
|
NM_000138.5(FBN1):c.7632T>C (p.Thr2544=)
|
rs1409771185
|
0.00001
|
NM_000138.5(FBN1):c.7647C>T (p.Thr2549=)
|
rs1184032259
|
0.00001
|
NM_000138.5(FBN1):c.7700-20T>C
|
rs747269059
|
0.00001
|
NM_000138.5(FBN1):c.7707C>T (p.Asp2569=)
|
rs756093148
|
0.00001
|
NM_000138.5(FBN1):c.7773C>T (p.Ser2591=)
|
rs764526450
|
0.00001
|
NM_000138.5(FBN1):c.7819+9C>T
|
rs971180549
|
0.00001
|
NM_000138.5(FBN1):c.7836C>T (p.Leu2612=)
|
rs756689495
|
0.00001
|
NM_000138.5(FBN1):c.7839C>T (p.Ser2613=)
|
rs193922238
|
0.00001
|
NM_000138.5(FBN1):c.7848C>G (p.Ile2616Met)
|
rs138184493
|
0.00001
|
NM_000138.5(FBN1):c.7875C>T (p.Thr2625=)
|
rs1344417150
|
0.00001
|
NM_000138.5(FBN1):c.7929T>C (p.Ser2643=)
|
rs745524158
|
0.00001
|
NM_000138.5(FBN1):c.7968G>A (p.Gln2656=)
|
rs753203216
|
0.00001
|
NM_000138.5(FBN1):c.7971C>A (p.Ala2657=)
|
rs2042897134
|
0.00001
|
NM_000138.5(FBN1):c.7998C>T (p.Thr2666=)
|
rs1374170310
|
0.00001
|
NM_000138.5(FBN1):c.8026C>T (p.Pro2676Ser)
|
rs745650955
|
0.00001
|
NM_000138.5(FBN1):c.8049A>G (p.Gln2683=)
|
rs1208510012
|
0.00001
|
NM_000138.5(FBN1):c.8051+20G>T
|
rs781718760
|
0.00001
|
NM_000138.5(FBN1):c.8051+7A>G
|
rs755589553
|
0.00001
|
NM_000138.5(FBN1):c.8052-20A>G
|
rs939834412
|
0.00001
|
NM_000138.5(FBN1):c.8123A>G (p.Asn2708Ser)
|
rs759494825
|
0.00001
|
NM_000138.5(FBN1):c.8177G>A (p.Arg2726Gln)
|
rs552157433
|
0.00001
|
NM_000138.5(FBN1):c.8189G>A (p.Arg2730Gln)
|
rs200231626
|
0.00001
|
NM_000138.5(FBN1):c.8198C>G (p.Thr2733Arg)
|
rs794728340
|
0.00001
|
NM_000138.5(FBN1):c.8199A>T (p.Thr2733=)
|
rs1372383251
|
0.00001
|
NM_000138.5(FBN1):c.8223C>T (p.Ile2741=)
|
rs150065311
|
0.00001
|
NM_000138.5(FBN1):c.8287A>G (p.Ile2763Val)
|
rs775172479
|
0.00001
|
NM_000138.5(FBN1):c.8295T>A (p.Ala2765=)
|
rs1417594908
|
0.00001
|
NM_000138.5(FBN1):c.8364G>A (p.Thr2788=)
|
rs112945086
|
0.00001
|
NM_000138.5(FBN1):c.8449T>G (p.Phe2817Val)
|
rs148741353
|
0.00001
|
NM_000138.5(FBN1):c.8466A>G (p.Pro2822=)
|
rs147279938
|
0.00001
|
NM_000138.5(FBN1):c.8494A>G (p.Ser2832Gly)
|
rs376933421
|
0.00001
|
NM_000138.5(FBN1):c.8551A>G (p.Lys2851Glu)
|
rs371939796
|
0.00001
|
NM_000138.5(FBN1):c.855A>G (p.Lys285=)
|
rs1272913373
|
0.00001
|
NM_000138.5(FBN1):c.8598C>A (p.Ile2866=)
|
rs1566888537
|
0.00001
|
NM_000138.5(FBN1):c.876C>T (p.Cys292=)
|
rs1286340387
|
0.00001
|
NM_000138.5(FBN1):c.91G>A (p.Ala31Thr)
|
rs371130701
|
0.00001
|
NM_000138.5(FBN1):c.921A>C (p.Thr307=)
|
rs1341105449
|
0.00001
|
NM_000138.5(FBN1):c.963C>T (p.Thr321=)
|
rs767914958
|
0.00001
|
NM_000138.5(FBN1):c.969A>G (p.Pro323=)
|
rs759743242
|
0.00001
|
NM_000138.5(FBN1):c.988+17A>G
|
rs778476790
|
0.00001
|
NM_000138.5(FBN1):c.989-10T>C
|
rs774104217
|
0.00001
|
NM_000138.5(FBN1):c.989-18G>A
|
rs759275834
|
0.00001
|
NM_000138.5(FBN1):c.102G>C (p.Val34=)
|
|
|
NM_000138.5(FBN1):c.1032C>T (p.Arg344=)
|
rs2141336180
|
|
NM_000138.5(FBN1):c.1038T>A (p.Ser346=)
|
rs2141336171
|
|
NM_000138.5(FBN1):c.1113T>C (p.Thr371=)
|
|
|
NM_000138.5(FBN1):c.1147+19A>G
|
rs369942195
|
|
NM_000138.5(FBN1):c.1148-16T>C
|
|
|
NM_000138.5(FBN1):c.1148-6T>C
|
|
|
NM_000138.5(FBN1):c.1164G>T (p.Leu388=)
|
|
|
NM_000138.5(FBN1):c.1175C>G (p.Pro392Arg)
|
rs534127494
|
|
NM_000138.5(FBN1):c.1200A>G (p.Glu400=)
|
|
|
NM_000138.5(FBN1):c.1211C>A (p.Pro404Gln)
|
rs779930519
|
|
NM_000138.5(FBN1):c.1211C>G (p.Pro404Arg)
|
rs779930519
|
|
NM_000138.5(FBN1):c.1211C>T (p.Pro404Leu)
|
rs779930519
|
|
NM_000138.5(FBN1):c.1239C>T (p.Leu413=)
|
rs1308682011
|
|
NM_000138.5(FBN1):c.1266A>T (p.Gly422=)
|
rs2141330973
|
|
NM_000138.5(FBN1):c.126C>G (p.Ala42=)
|
|
|
NM_000138.5(FBN1):c.1278G>A (p.Pro426=)
|
rs113245313
|
|
NM_000138.5(FBN1):c.1278G>T (p.Pro426=)
|
rs113245313
|
|
NM_000138.5(FBN1):c.1281C>A (p.Val427=)
|
rs759949880
|
|
NM_000138.5(FBN1):c.1281C>G (p.Val427=)
|
rs759949880
|
|
NM_000138.5(FBN1):c.1286G>A (p.Arg429Gln)
|
rs368089138
|
|
NM_000138.5(FBN1):c.1286G>T (p.Arg429Leu)
|
rs368089138
|
|
NM_000138.5(FBN1):c.1305G>A (p.Leu435=)
|
rs769895864
|
|
NM_000138.5(FBN1):c.1311A>G (p.Pro437=)
|
rs1253494702
|
|
NM_000138.5(FBN1):c.1327+7A>G
|
rs529150174
|
|
NM_000138.5(FBN1):c.1328-15T>G
|
rs2043793958
|
|
NM_000138.5(FBN1):c.1335G>T (p.Leu445=)
|
|
|
NM_000138.5(FBN1):c.135A>G (p.Arg45=)
|
rs2140787554
|
|
NM_000138.5(FBN1):c.1461G>A (p.Glu487=)
|
|
|
NM_000138.5(FBN1):c.1468+12A>G
|
|
|
NM_000138.5(FBN1):c.1468+12A>T
|
|
|
NM_000138.5(FBN1):c.1468+15C>T
|
rs762023380
|
|
NM_000138.5(FBN1):c.1468+19G>A
|
|
|
NM_000138.5(FBN1):c.1469-10T>C
|
|
|
NM_000138.5(FBN1):c.1469-14A>T
|
rs2043779369
|
|
NM_000138.5(FBN1):c.1469-5T>G
|
rs1060504144
|
|
NM_000138.5(FBN1):c.1469-6T>G
|
|
|
NM_000138.5(FBN1):c.1476T>C (p.Asp492=)
|
rs758967612
|
|
NM_000138.5(FBN1):c.1506T>C (p.Gly502=)
|
rs770426679
|
|
NM_000138.5(FBN1):c.150C>T (p.His50=)
|
rs1597652302
|
|
NM_000138.5(FBN1):c.1524G>A (p.Gln508=)
|
|
|
NM_000138.5(FBN1):c.1530G>A (p.Ser510=)
|
rs147511977
|
|
NM_000138.5(FBN1):c.1530G>T (p.Ser510=)
|
rs147511977
|
|
NM_000138.5(FBN1):c.1536C>T (p.Thr512=)
|
rs1178360874
|
|
NM_000138.5(FBN1):c.1542G>A (p.Gln514=)
|
|
|
NM_000138.5(FBN1):c.1560G>A (p.Gln520=)
|
|
|
NM_000138.5(FBN1):c.1566A>T (p.Thr522=)
|
rs531264662
|
|
NM_000138.5(FBN1):c.1588+10T>G
|
rs761924614
|
|
NM_000138.5(FBN1):c.1588+16C>T
|
|
|
NM_000138.5(FBN1):c.1588+20C>A
|
|
|
NM_000138.5(FBN1):c.1588+20C>G
|
|
|
NM_000138.5(FBN1):c.1588+9C>G
|
rs757843637
|
|
NM_000138.5(FBN1):c.1589-20T>G
|
|
|
NM_000138.5(FBN1):c.1589-5T>C
|
rs1371798538
|
|
NM_000138.5(FBN1):c.1589-7A>T
|
rs1467162544
|
|
NM_000138.5(FBN1):c.1589-8G>T
|
rs779629563
|
|
NM_000138.5(FBN1):c.1599G>A (p.Glu533=)
|
|
|
NM_000138.5(FBN1):c.1614C>T (p.Gly538=)
|
rs2141323481
|
|
NM_000138.5(FBN1):c.1616G>A (p.Arg539Gln)
|
|
|
NM_000138.5(FBN1):c.1625A>G (p.Asn542Ser)
|
rs963564435
|
|
NM_000138.5(FBN1):c.164+13G>T
|
|
|
NM_000138.5(FBN1):c.164+16C>T
|
|
|
NM_000138.5(FBN1):c.1641C>A (p.Ile547=)
|
rs2141323402
|
|
NM_000138.5(FBN1):c.165-8T>G
|
rs750029122
|
|
NM_000138.5(FBN1):c.1662T>C (p.His554=)
|
|
|
NM_000138.5(FBN1):c.1674T>C (p.Asn558=)
|
rs2141323328
|
|
NM_000138.5(FBN1):c.1714+11T>C
|
|
|
NM_000138.5(FBN1):c.1714+13T>A
|
|
|
NM_000138.5(FBN1):c.1714+14A>G
|
|
|
NM_000138.5(FBN1):c.1714+7A>G
|
|
|
NM_000138.5(FBN1):c.1715-10G>A
|
rs764128146
|
|
NM_000138.5(FBN1):c.1715-15G>A
|
|
|
NM_000138.5(FBN1):c.1715-17A>G
|
|
|
NM_000138.5(FBN1):c.1715-8A>G
|
rs1555399978
|
|
NM_000138.5(FBN1):c.1715-9T>A
|
rs1057520813
|
|
NM_000138.5(FBN1):c.1715-9T>C
|
|
|
NM_000138.5(FBN1):c.1732A>G (p.Ile578Val)
|
|
|
NM_000138.5(FBN1):c.1761T>C (p.Cys587=)
|
rs1060504143
|
|
NM_000138.5(FBN1):c.1791T>C (p.Ile597=)
|
|
|
NM_000138.5(FBN1):c.1815A>G (p.Ala605=)
|
rs2141321499
|
|
NM_000138.5(FBN1):c.1830T>C (p.Tyr610=)
|
rs1247219658
|
|
NM_000138.5(FBN1):c.1837+12A>G
|
|
|
NM_000138.5(FBN1):c.1838-17G>A
|
|
|
NM_000138.5(FBN1):c.1838-17G>T
|
|
|
NM_000138.5(FBN1):c.192T>C (p.Asn64=)
|
|
|
NM_000138.5(FBN1):c.1940T>C (p.Leu647Pro)
|
rs1566913983
|
|
NM_000138.5(FBN1):c.1947C>T (p.Gly649=)
|
rs2141317155
|
|
NM_000138.5(FBN1):c.195T>C (p.Ala65=)
|
rs759873157
|
|
NM_000138.5(FBN1):c.1960+14A>G
|
|
|
NM_000138.5(FBN1):c.1960+15T>C
|
|
|
NM_000138.5(FBN1):c.1960+9A>G
|
|
|
NM_000138.5(FBN1):c.1961-18A>G
|
|
|
NM_000138.5(FBN1):c.1961-5T>C
|
rs919746497
|
|
NM_000138.5(FBN1):c.1962C>T (p.Asp654=)
|
|
|
NM_000138.5(FBN1):c.1980A>G (p.Thr660=)
|
rs531454879
|
|
NM_000138.5(FBN1):c.198C>T (p.Tyr66=)
|
rs2044669179
|
|
NM_000138.5(FBN1):c.1992A>C (p.Gly664=)
|
|
|
NM_000138.5(FBN1):c.1998G>A (p.Lys666=)
|
|
|
NM_000138.5(FBN1):c.2004C>T (p.Gly668=)
|
|
|
NM_000138.5(FBN1):c.2007G>A (p.Gln669=)
|
|
|
NM_000138.5(FBN1):c.2022G>A (p.Leu674=)
|
|
|
NM_000138.5(FBN1):c.2031T>C (p.Ala677=)
|
|
|
NM_000138.5(FBN1):c.2067G>A (p.Glu689=)
|
|
|
NM_000138.5(FBN1):c.2085T>C (p.Pro695=)
|
rs2141315721
|
|
NM_000138.5(FBN1):c.2094G>A (p.Pro698=)
|
rs144775475
|
|
NM_000138.5(FBN1):c.2100T>C (p.Pro700=)
|
|
|
NM_000138.5(FBN1):c.2103A>G (p.Ala701=)
|
rs2141315644
|
|
NM_000138.5(FBN1):c.2113+18_2113+19delinsAT
|
|
|
NM_000138.5(FBN1):c.2114-15G>C
|
rs1566912665
|
|
NM_000138.5(FBN1):c.2114-20T>C
|
|
|
NM_000138.5(FBN1):c.2114-7A>G
|
|
|
NM_000138.5(FBN1):c.2167+19A>C
|
|
|
NM_000138.5(FBN1):c.2168-11T>C
|
|
|
NM_000138.5(FBN1):c.2168-15T>G
|
|
|
NM_000138.5(FBN1):c.2168-4G>A
|
rs2141306607
|
|
NM_000138.5(FBN1):c.2187A>G (p.Leu729=)
|
rs61730055
|
|
NM_000138.5(FBN1):c.223C>T (p.Pro75Ser)
|
rs886051252
|
|
NM_000138.5(FBN1):c.2241A>G (p.Lys747=)
|
rs1045070535
|
|
NM_000138.5(FBN1):c.2268G>A (p.Val756=)
|
rs2141306354
|
|
NM_000138.5(FBN1):c.2277T>C (p.Thr759=)
|
rs1028807052
|
|
NM_000138.5(FBN1):c.2277T>G (p.Thr759=)
|
|
|
NM_000138.5(FBN1):c.228C>G (p.Gly76=)
|
rs141651917
|
|
NM_000138.5(FBN1):c.2293+14C>A
|
|
|
NM_000138.5(FBN1):c.2293+15C>T
|
|
|
NM_000138.5(FBN1):c.2293+17A>G
|
|
|
NM_000138.5(FBN1):c.2293+8G>A
|
|
|
NM_000138.5(FBN1):c.2293+8G>T
|
|
|
NM_000138.5(FBN1):c.2294-18T>C
|
|
|
NM_000138.5(FBN1):c.2294-20T>C
|
|
|
NM_000138.5(FBN1):c.2294-9_2294-4del
|
rs1597569681
|
|
NM_000138.5(FBN1):c.2340A>G (p.Gln780=)
|
|
|
NM_000138.5(FBN1):c.2343T>C (p.Cys781=)
|
rs199647257
|
|
NM_000138.5(FBN1):c.2352T>A (p.Thr784=)
|
rs2141305065
|
|
NM_000138.5(FBN1):c.2376C>T (p.Cys792=)
|
rs1060504142
|
|
NM_000138.5(FBN1):c.2377C>T (p.Pro793Ser)
|
|
|
NM_000138.5(FBN1):c.237G>A (p.Gln79=)
|
|
|
NM_000138.5(FBN1):c.2385A>T (p.Gly795=)
|
|
|
NM_000138.5(FBN1):c.2391C>T (p.Ile797=)
|
rs2141304992
|
|
NM_000138.5(FBN1):c.2397A>G (p.Lys799=)
|
|
|
NM_000138.5(FBN1):c.2404C>T (p.Leu802=)
|
|
|
NM_000138.5(FBN1):c.2419+16G>C
|
|
|
NM_000138.5(FBN1):c.2451T>G (p.Ile817Met)
|
|
|
NM_000138.5(FBN1):c.247+20G>A
|
rs2140737315
|
|
NM_000138.5(FBN1):c.247+9A>C
|
rs1298547542
|
|
NM_000138.5(FBN1):c.248-4A>G
|
rs1597631751
|
|
NM_000138.5(FBN1):c.2493A>G (p.Glu831=)
|
rs756410019
|
|
NM_000138.5(FBN1):c.2508T>C (p.Ser836=)
|
rs193922190
|
|
NM_000138.5(FBN1):c.2521A>T (p.Thr841Ser)
|
rs1381506466
|
|
NM_000138.5(FBN1):c.2529C>T (p.Thr843=)
|
|
|
NM_000138.5(FBN1):c.2539+10T>A
|
rs878853679
|
|
NM_000138.5(FBN1):c.2539+10T>C
|
rs878853679
|
|
NM_000138.5(FBN1):c.2539+11T>C
|
|
|
NM_000138.5(FBN1):c.2539+13C>T
|
|
|
NM_000138.5(FBN1):c.2539+17G>A
|
|
|
NM_000138.5(FBN1):c.2539+19A>T
|
rs370949913
|
|
NM_000138.5(FBN1):c.2539+9C>T
|
rs765271763
|
|
NM_000138.5(FBN1):c.2540-10T>A
|
|
|
NM_000138.5(FBN1):c.2544C>T (p.Thr848=)
|
rs2043596539
|
|
NM_000138.5(FBN1):c.2568T>C (p.Thr856=)
|
|
|
NM_000138.5(FBN1):c.258G>T (p.Arg86=)
|
|
|
NM_000138.5(FBN1):c.2601T>C (p.Asn867=)
|
|
|
NM_000138.5(FBN1):c.2613A>G (p.Leu871=)
|
rs770290542
|
|
NM_000138.5(FBN1):c.2646G>A (p.Ala882=)
|
rs376040442
|
|
NM_000138.5(FBN1):c.2646G>C (p.Ala882=)
|
rs376040442
|
|
NM_000138.5(FBN1):c.2662A>T (p.Thr888Ser)
|
|
|
NM_000138.5(FBN1):c.2664C>T (p.Thr888=)
|
rs1597568804
|
|
NM_000138.5(FBN1):c.2665C>G (p.Leu889Val)
|
|
|
NM_000138.5(FBN1):c.2666T>A (p.Leu889Gln)
|
|
|
NM_000138.5(FBN1):c.2667A>G (p.Leu889=)
|
rs780192241
|
|
NM_000138.5(FBN1):c.2674G>A (p.Val892Ile)
|
|
|
NM_000138.5(FBN1):c.2677+14A>G
|
|
|
NM_000138.5(FBN1):c.2677+15T>C
|
|
|
NM_000138.5(FBN1):c.2677+16G>A
|
|
|
NM_000138.5(FBN1):c.2677+18T>G
|
|
|
NM_000138.5(FBN1):c.2678-10T>C
|
rs1457653118
|
|
NM_000138.5(FBN1):c.2678-8T>C
|
|
|
NM_000138.5(FBN1):c.2678-9T>A
|
rs2141302502
|
|
NM_000138.5(FBN1):c.2691T>C (p.Gly897=)
|
rs1555399096
|
|
NM_000138.5(FBN1):c.2718A>G (p.Thr906=)
|
rs2141302366
|
|
NM_000138.5(FBN1):c.2721A>G (p.Gln907=)
|
rs781062880
|
|
NM_000138.5(FBN1):c.2721A>T (p.Gln907His)
|
rs781062880
|
|
NM_000138.5(FBN1):c.2728+13A>G
|
|
|
NM_000138.5(FBN1):c.2728+14C>G
|
|
|
NM_000138.5(FBN1):c.2728+16T>G
|
|
|
NM_000138.5(FBN1):c.2728+18T>A
|
|
|
NM_000138.5(FBN1):c.2728+18T>C
|
|
|
NM_000138.5(FBN1):c.2729-11T>C
|
|
|
NM_000138.5(FBN1):c.2729-13T>G
|
|
|
NM_000138.5(FBN1):c.2729-14T>G
|
|
|
NM_000138.5(FBN1):c.2729-16T>C
|
|
|
NM_000138.5(FBN1):c.2729-17T>C
|
|
|
NM_000138.5(FBN1):c.2729-19A>T
|
|
|
NM_000138.5(FBN1):c.2729-3del
|
rs756503206
|
|
NM_000138.5(FBN1):c.2729-7T>C
|
rs1269178652
|
|
NM_000138.5(FBN1):c.2729-8C>A
|
rs775257418
|
|
NM_000138.5(FBN1):c.2729-8C>T
|
rs775257418
|
|
NM_000138.5(FBN1):c.2736T>C (p.Asp912=)
|
|
|
NM_000138.5(FBN1):c.2784C>T (p.Asn928=)
|
|
|
NM_000138.5(FBN1):c.2790G>A (p.Arg930=)
|
|
|
NM_000138.5(FBN1):c.2796A>G (p.Ser932=)
|
rs1261762653
|
|
NM_000138.5(FBN1):c.2799C>T (p.Phe933=)
|
rs2141300339
|
|
NM_000138.5(FBN1):c.27C>T (p.Ile9=)
|
rs1057522209
|
|
NM_000138.5(FBN1):c.2808G>A (p.Gln936=)
|
|
|
NM_000138.5(FBN1):c.2817T>C (p.Ser939=)
|
rs1254659886
|
|
NM_000138.5(FBN1):c.2854+10G>A
|
rs768540741
|
|
NM_000138.5(FBN1):c.2854+11A>G
|
|
|
NM_000138.5(FBN1):c.2854+15C>T
|
|
|
NM_000138.5(FBN1):c.2854+20T>C
|
|
|
NM_000138.5(FBN1):c.2854+7A>G
|
|
|
NM_000138.5(FBN1):c.2854+9T>G
|
|
|
NM_000138.5(FBN1):c.2855-11C>T
|
|
|
NM_000138.5(FBN1):c.2855-16T>C
|
rs2141297617
|
|
NM_000138.5(FBN1):c.2855-18C>G
|
|
|
NM_000138.5(FBN1):c.2855-19C>T
|
|
|
NM_000138.5(FBN1):c.2855-8T>C
|
rs193922195
|
|
NM_000138.5(FBN1):c.2856T>C (p.Asp952=)
|
|
|
NM_000138.5(FBN1):c.2905C>T (p.Leu969=)
|
rs376776832
|
|
NM_000138.5(FBN1):c.2913T>C (p.Ile971=)
|
rs2141297416
|
|
NM_000138.5(FBN1):c.2934C>T (p.Asp978=)
|
rs138438849
|
|
NM_000138.5(FBN1):c.2952C>A (p.Val984=)
|
rs374670384
|
|
NM_000138.5(FBN1):c.2957C>T (p.Ala986Val)
|
|
|
NM_000138.5(FBN1):c.2961C>G (p.Ala987=)
|
|
|
NM_000138.5(FBN1):c.2982G>A (p.Glu994=)
|
rs758745637
|
|
NM_000138.5(FBN1):c.2985G>A (p.Glu995=)
|
|
|
NM_000138.5(FBN1):c.3006T>C (p.Pro1002=)
|
rs2141297191
|
|
NM_000138.5(FBN1):c.3012C>T (p.Tyr1004=)
|
rs397515784
|
|
NM_000138.5(FBN1):c.3015G>A (p.Glu1005=)
|
rs1430562775
|
|
NM_000138.5(FBN1):c.3027G>A (p.Pro1009=)
|
rs774381427
|
|
NM_000138.5(FBN1):c.3051A>G (p.Lys1017=)
|
|
|
NM_000138.5(FBN1):c.3054A>G (p.Glu1018=)
|
rs1060504141
|
|
NM_000138.5(FBN1):c.3078C>T (p.Phe1026=)
|
rs553411757
|
|
NM_000138.5(FBN1):c.3082+11dup
|
|
|
NM_000138.5(FBN1):c.3082+12C>G
|
|
|
NM_000138.5(FBN1):c.3082+12C>T
|
|
|
NM_000138.5(FBN1):c.3082+8G>A
|
|
|
NM_000138.5(FBN1):c.3082+9T>C
|
rs746303949
|
|
NM_000138.5(FBN1):c.3083-18A>G
|
|
|
NM_000138.5(FBN1):c.3083-9T>C
|
|
|
NM_000138.5(FBN1):c.30C>A (p.Ala10=)
|
rs1373206190
|
|
NM_000138.5(FBN1):c.30C>T (p.Ala10=)
|
|
|
NM_000138.5(FBN1):c.3102G>A (p.Met1034Ile)
|
|
|
NM_000138.5(FBN1):c.3111C>T (p.Ser1037=)
|
rs2141295290
|
|
NM_000138.5(FBN1):c.3123C>A (p.His1041Gln)
|
|
|
NM_000138.5(FBN1):c.3123C>T (p.His1041=)
|
rs576395584
|
|
NM_000138.5(FBN1):c.3144T>A (p.Ile1048=)
|
rs112384723
|
|
NM_000138.5(FBN1):c.3201C>T (p.Asn1067=)
|
|
|
NM_000138.5(FBN1):c.3208+10T>C
|
rs1597564173
|
|
NM_000138.5(FBN1):c.3208+13G>A
|
rs2043527577
|
|
NM_000138.5(FBN1):c.3208+14C>G
|
|
|
NM_000138.5(FBN1):c.3208+7T>A
|
|
|
NM_000138.5(FBN1):c.3209-11T>G
|
|
|
NM_000138.5(FBN1):c.3209-13T>C
|
|
|
NM_000138.5(FBN1):c.3209-19A>G
|
|
|
NM_000138.5(FBN1):c.3209-6G>C
|
rs942309418
|
|
NM_000138.5(FBN1):c.3210C>T (p.Asp1070=)
|
rs754970748
|
|
NM_000138.5(FBN1):c.3213T>A (p.Ile1071=)
|
|
|
NM_000138.5(FBN1):c.3297A>G (p.Glu1099=)
|
rs1555398626
|
|
NM_000138.5(FBN1):c.3334A>T (p.Met1112Leu)
|
|
|
NM_000138.5(FBN1):c.3337+15A>T
|
|
|
NM_000138.5(FBN1):c.3338-16C>T
|
|
|
NM_000138.5(FBN1):c.3338-18del
|
|
|
NM_000138.5(FBN1):c.3366C>T (p.Leu1122=)
|
rs2141293747
|
|
NM_000138.5(FBN1):c.336C>T (p.Gly112=)
|
rs1555405526
|
|
NM_000138.5(FBN1):c.3390T>C (p.His1130=)
|
|
|
NM_000138.5(FBN1):c.339C>T (p.Ser113=)
|
|
|
NM_000138.5(FBN1):c.3402A>G (p.Gly1134=)
|
|
|
NM_000138.5(FBN1):c.3411C>T (p.Arg1137=)
|
rs878853681
|
|
NM_000138.5(FBN1):c.3447C>T (p.Asn1149=)
|
|
|
NM_000138.5(FBN1):c.3463+15T>A
|
rs1597563076
|
|
NM_000138.5(FBN1):c.3464-16_3464-14del
|
rs775944757
|
|
NM_000138.5(FBN1):c.347-19CTT[2]
|
rs756583965
|
|
NM_000138.5(FBN1):c.3471T>C (p.Asn1157=)
|
|
|
NM_000138.5(FBN1):c.3487G>A (p.Ala1163Thr)
|
|
|
NM_000138.5(FBN1):c.3516G>C (p.Val1172=)
|
rs2141293239
|
|
NM_000138.5(FBN1):c.3528G>A (p.Gly1176=)
|
rs902201289
|
|
NM_000138.5(FBN1):c.3537G>A (p.Gln1179=)
|
|
|
NM_000138.5(FBN1):c.3579A>G (p.Leu1193=)
|
|
|
NM_000138.5(FBN1):c.3582T>C (p.Phe1194=)
|
rs2141293096
|
|
NM_000138.5(FBN1):c.3586G>A (p.Val1196Ile)
|
rs1352765609
|
|
NM_000138.5(FBN1):c.3590-10T>C
|
rs1384307516
|
|
NM_000138.5(FBN1):c.3590-11A>G
|
rs777262423
|
|
NM_000138.5(FBN1):c.3590-17_3590-15del
|
|
|
NM_000138.5(FBN1):c.3590-19T>C
|
|
|
NM_000138.5(FBN1):c.3590-9T>A
|
|
|
NM_000138.5(FBN1):c.359A>G (p.Asn120Ser)
|
rs753900024
|
|
NM_000138.5(FBN1):c.3605G>A (p.Ser1202Asn)
|
rs758542279
|
|
NM_000138.5(FBN1):c.3712+16C>T
|
|
|
NM_000138.5(FBN1):c.3712+9G>A
|
|
|
NM_000138.5(FBN1):c.3712+9G>T
|
rs769251450
|
|
NM_000138.5(FBN1):c.3713-17G>T
|
|
|
NM_000138.5(FBN1):c.3713-4G>A
|
rs2141289788
|
|
NM_000138.5(FBN1):c.3730G>A (p.Asp1244Asn)
|
|
|
NM_000138.5(FBN1):c.3780G>A (p.Glu1260=)
|
|
|
NM_000138.5(FBN1):c.3786G>A (p.Arg1262=)
|
rs1555398280
|
|
NM_000138.5(FBN1):c.378A>C (p.Gly126=)
|
|
|
NM_000138.5(FBN1):c.3801T>C (p.Asp1267=)
|
rs769208631
|
|
NM_000138.5(FBN1):c.381T>C (p.Gly127=)
|
|
|
NM_000138.5(FBN1):c.3838+16A>G
|
|
|
NM_000138.5(FBN1):c.3838+18A>T
|
|
|
NM_000138.5(FBN1):c.3839-15A>C
|
|
|
NM_000138.5(FBN1):c.3839-19T>C
|
|
|
NM_000138.5(FBN1):c.3839-20A>G
|
rs891189448
|
|
NM_000138.5(FBN1):c.3843C>A (p.Val1281=)
|
|
|
NM_000138.5(FBN1):c.3849G>A (p.Glu1283=)
|
|
|
NM_000138.5(FBN1):c.3870C>T (p.Ile1290=)
|
rs2043466994
|
|
NM_000138.5(FBN1):c.3897G>C (p.Thr1299=)
|
rs771283158
|
|
NM_000138.5(FBN1):c.3936C>A (p.Ser1312=)
|
rs779913610
|
|
NM_000138.5(FBN1):c.3939C>G (p.Gly1313=)
|
rs1597558962
|
|
NM_000138.5(FBN1):c.3964+12C>G
|
|
|
NM_000138.5(FBN1):c.3964+13A>C
|
|
|
NM_000138.5(FBN1):c.3964+9G>T
|
rs1412748899
|
|
NM_000138.5(FBN1):c.3965-10A>G
|
|
|
NM_000138.5(FBN1):c.3965-15dup
|
rs2043405703
|
|
NM_000138.5(FBN1):c.3966C>T (p.Asp1322=)
|
rs2141280317
|
|
NM_000138.5(FBN1):c.3969C>A (p.Ile1323=)
|
rs536546914
|
|
NM_000138.5(FBN1):c.3975A>G (p.Glu1325=)
|
rs1555397741
|
|
NM_000138.5(FBN1):c.3988G>A (p.Ala1330Thr)
|
|
|
NM_000138.5(FBN1):c.4023T>C (p.Asn1341=)
|
rs2043404831
|
|
NM_000138.5(FBN1):c.4035C>T (p.Ser1345=)
|
rs1400471354
|
|
NM_000138.5(FBN1):c.4065T>A (p.Ile1355=)
|
|
|
NM_000138.5(FBN1):c.4068A>C (p.Gly1356=)
|
rs1555397706
|
|
NM_000138.5(FBN1):c.4088-13C>T
|
|
|
NM_000138.5(FBN1):c.4088-14C>A
|
|
|
NM_000138.5(FBN1):c.4088-15A>C
|
|
|
NM_000138.5(FBN1):c.4088-17T>C
|
rs1397067049
|
|
NM_000138.5(FBN1):c.4088-8T>C
|
|
|
NM_000138.5(FBN1):c.4107T>C (p.Asn1369=)
|
rs765588220
|
|
NM_000138.5(FBN1):c.4134A>T (p.Ala1378=)
|
|
|
NM_000138.5(FBN1):c.4146T>C (p.Asn1382=)
|
|
|
NM_000138.5(FBN1):c.4149C>G (p.Thr1383=)
|
|
|
NM_000138.5(FBN1):c.4152G>A (p.Met1384Ile)
|
rs1488326228
|
|
NM_000138.5(FBN1):c.4155A>T (p.Gly1385=)
|
rs2141279769
|
|
NM_000138.5(FBN1):c.4164C>A (p.Arg1388=)
|
|
|
NM_000138.5(FBN1):c.4179A>G (p.Glu1393=)
|
rs1597553731
|
|
NM_000138.5(FBN1):c.4185C>T (p.Tyr1395=)
|
rs2043401602
|
|
NM_000138.5(FBN1):c.4190G>T (p.Gly1397Val)
|
rs747867726
|
|
NM_000138.5(FBN1):c.4191T>C (p.Gly1397=)
|
|
|
NM_000138.5(FBN1):c.4197C>T (p.Gly1399=)
|
|
|
NM_000138.5(FBN1):c.4210+11G>A
|
rs148057138
|
|
NM_000138.5(FBN1):c.4210+14G>T
|
|
|
NM_000138.5(FBN1):c.4210+15G>A
|
|
|
NM_000138.5(FBN1):c.4210+15G>C
|
|
|
NM_000138.5(FBN1):c.4210+16A>C
|
|
|
NM_000138.5(FBN1):c.4210+16A>G
|
|
|
NM_000138.5(FBN1):c.4211-12_4211-9del
|
rs1597552613
|
|
NM_000138.5(FBN1):c.4211-5T>C
|
|
|
NM_000138.5(FBN1):c.4211-8G>C
|
rs764384543
|
|
NM_000138.5(FBN1):c.4230G>A (p.Glu1410=)
|
|
|
NM_000138.5(FBN1):c.4254C>G (p.Gly1418=)
|
|
|
NM_000138.5(FBN1):c.4263C>G (p.Leu1421=)
|
|
|
NM_000138.5(FBN1):c.4269A>T (p.Ala1423=)
|
rs775256810
|
|
NM_000138.5(FBN1):c.4281C>T (p.Tyr1427=)
|
|
|
NM_000138.5(FBN1):c.4293C>T (p.Cys1431=)
|
rs112375043
|
|
NM_000138.5(FBN1):c.4305C>T (p.Phe1435=)
|
rs1243628683
|
|
NM_000138.5(FBN1):c.4306G>T (p.Val1436Leu)
|
rs377338217
|
|
NM_000138.5(FBN1):c.431A>G (p.His144Arg)
|
|
|
NM_000138.5(FBN1):c.4336+19A>G
|
rs2043384546
|
|
NM_000138.5(FBN1):c.4336+4_4336+11dup
|
|
|
NM_000138.5(FBN1):c.4336+9T>A
|
|
|
NM_000138.5(FBN1):c.4337-12C>T
|
rs573468967
|
|
NM_000138.5(FBN1):c.4337-4dup
|
rs1566905439
|
|
NM_000138.5(FBN1):c.4337-8C>A
|
rs1458842000
|
|
NM_000138.5(FBN1):c.4362C>T (p.Asn1454=)
|
rs1060504145
|
|
NM_000138.5(FBN1):c.4395T>C (p.Pro1465=)
|
rs1555397410
|
|
NM_000138.5(FBN1):c.4401G>A (p.Leu1467=)
|
|
|
NM_000138.5(FBN1):c.4401G>C (p.Leu1467=)
|
rs747377334
|
|
NM_000138.5(FBN1):c.4404C>T (p.Phe1468=)
|
rs780479561
|
|
NM_000138.5(FBN1):c.442+8C>T
|
rs771771077
|
|
NM_000138.5(FBN1):c.443-12C>A
|
rs1027154934
|
|
NM_000138.5(FBN1):c.443-13C>T
|
|
|
NM_000138.5(FBN1):c.443-17C>G
|
|
|
NM_000138.5(FBN1):c.443-20G>A
|
|
|
NM_000138.5(FBN1):c.443-8T>C
|
rs1319616777
|
|
NM_000138.5(FBN1):c.443-9A>T
|
|
|
NM_000138.5(FBN1):c.4459+16G>A
|
|
|
NM_000138.5(FBN1):c.4503C>T (p.Asn1501=)
|
rs2043341420
|
|
NM_000138.5(FBN1):c.4512C>T (p.Asn1504=)
|
|
|
NM_000138.5(FBN1):c.4569A>T (p.Arg1523=)
|
rs2141272876
|
|
NM_000138.5(FBN1):c.4582+11A>G
|
|
|
NM_000138.5(FBN1):c.4582+19_4582+21del
|
|
|
NM_000138.5(FBN1):c.4582+7C>T
|
rs768496209
|
|
NM_000138.5(FBN1):c.4583-12T>C
|
rs1326100045
|
|
NM_000138.5(FBN1):c.4583-18T>C
|
|
|
NM_000138.5(FBN1):c.4583-6A>T
|
|
|
NM_000138.5(FBN1):c.4583-8G>C
|
rs910464222
|
|
NM_000138.5(FBN1):c.4583-9G>C
|
rs2043338449
|
|
NM_000138.5(FBN1):c.4587C>T (p.Thr1529=)
|
rs1366052911
|
|
NM_000138.5(FBN1):c.4593T>C (p.Ser1531=)
|
rs985992262
|
|
NM_000138.5(FBN1):c.4620T>G (p.Pro1540=)
|
|
|
NM_000138.5(FBN1):c.4656A>G (p.Glu1552=)
|
rs768210642
|
|
NM_000138.5(FBN1):c.465C>T (p.Leu155=)
|
|
|
NM_000138.5(FBN1):c.4671T>C (p.Val1557=)
|
rs978094803
|
|
NM_000138.5(FBN1):c.4731T>C (p.Cys1577=)
|
|
|
NM_000138.5(FBN1):c.4747+15T>G
|
|
|
NM_000138.5(FBN1):c.4747+19A>G
|
rs2141272191
|
|
NM_000138.5(FBN1):c.4747+8G>A
|
rs368739764
|
|
NM_000138.5(FBN1):c.4747+8G>C
|
|
|
NM_000138.5(FBN1):c.4748-10G>A
|
|
|
NM_000138.5(FBN1):c.4748-10G>C
|
|
|
NM_000138.5(FBN1):c.4748-19T>A
|
|
|
NM_000138.5(FBN1):c.4748-3T>C
|
rs770762644
|
|
NM_000138.5(FBN1):c.4749C>T (p.Ser1583=)
|
rs1275608178
|
|
NM_000138.5(FBN1):c.4764T>C (p.Leu1588=)
|
rs2043316351
|
|
NM_000138.5(FBN1):c.4791A>C (p.Pro1597=)
|
rs2043316050
|
|
NM_000138.5(FBN1):c.4816+8_4816+9insTACCTTCCTT
|
rs878853684
|
|
NM_000138.5(FBN1):c.4817-14T>G
|
|
|
NM_000138.5(FBN1):c.4817-16G>T
|
|
|
NM_000138.5(FBN1):c.4817-7T>C
|
|
|
NM_000138.5(FBN1):c.4817-8T>C
|
rs2043315040
|
|
NM_000138.5(FBN1):c.4827G>A (p.Glu1609=)
|
|
|
NM_000138.5(FBN1):c.4848G>C (p.Leu1616=)
|
|
|
NM_000138.5(FBN1):c.4863A>G (p.Lys1621=)
|
rs2043314687
|
|
NM_000138.5(FBN1):c.486C>G (p.Ala162=)
|
|
|
NM_000138.5(FBN1):c.486C>T (p.Ala162=)
|
rs2044515505
|
|
NM_000138.5(FBN1):c.4881G>A (p.Gly1627=)
|
|
|
NM_000138.5(FBN1):c.4896C>G (p.Arg1632=)
|
rs2141269637
|
|
NM_000138.5(FBN1):c.4905C>T (p.Thr1635=)
|
rs113115949
|
|
NM_000138.5(FBN1):c.4914C>T (p.Tyr1638=)
|
|
|
NM_000138.5(FBN1):c.4917G>T (p.Leu1639=)
|
|
|
NM_000138.5(FBN1):c.4935G>A (p.Val1645=)
|
rs886038897
|
|
NM_000138.5(FBN1):c.4942+19A>C
|
|
|
NM_000138.5(FBN1):c.4942+19A>T
|
rs2141269507
|
|
NM_000138.5(FBN1):c.4942+20T>A
|
|
|
NM_000138.5(FBN1):c.4942+8G>C
|
|
|
NM_000138.5(FBN1):c.4942+9T>G
|
|
|
NM_000138.5(FBN1):c.4943-13C>T
|
|
|
NM_000138.5(FBN1):c.4943-15C>A
|
|
|
NM_000138.5(FBN1):c.4943-25_4943-19del
|
|
|
NM_000138.5(FBN1):c.4943-4A>G
|
rs1555396865
|
|
NM_000138.5(FBN1):c.4962T>C (p.Thr1654=)
|
|
|
NM_000138.5(FBN1):c.4998C>T (p.Thr1666=)
|
rs141925790
|
|
NM_000138.5(FBN1):c.5013C>T (p.Thr1671=)
|
|
|
NM_000138.5(FBN1):c.5031C>T (p.Asp1677=)
|
rs1597545860
|
|
NM_000138.5(FBN1):c.5066-12C>T
|
rs531105331
|
|
NM_000138.5(FBN1):c.5066-19T>C
|
|
|
NM_000138.5(FBN1):c.5066-5dup
|
|
|
NM_000138.5(FBN1):c.5076A>G (p.Arg1692=)
|
rs2141266766
|
|
NM_000138.5(FBN1):c.5100T>C (p.Tyr1700=)
|
|
|
NM_000138.5(FBN1):c.5109C>T (p.Asn1703=)
|
rs1235270306
|
|
NM_000138.5(FBN1):c.5121T>C (p.Asp1707=)
|
rs1031351464
|
|
NM_000138.5(FBN1):c.5178C>T (p.Gly1726=)
|
rs1303761807
|
|
NM_000138.5(FBN1):c.5181G>C (p.Arg1727=)
|
rs1288751290
|
|
NM_000138.5(FBN1):c.5214C>T (p.Ile1738=)
|
|
|
NM_000138.5(FBN1):c.5224+11G>A
|
rs776454928
|
|
NM_000138.5(FBN1):c.5225-10A>T
|
|
|
NM_000138.5(FBN1):c.5232T>C (p.Phe1744=)
|
|
|
NM_000138.5(FBN1):c.5271C>T (p.Ile1757=)
|
rs1291913287
|
|
NM_000138.5(FBN1):c.5272G>A (p.Asp1758Asn)
|
|
|
NM_000138.5(FBN1):c.5274C>T (p.Asp1758=)
|
rs1566902542
|
|
NM_000138.5(FBN1):c.5283C>G (p.Thr1761=)
|
|
|
NM_000138.5(FBN1):c.5296+10G>A
|
|
|
NM_000138.5(FBN1):c.5296+12C>G
|
rs566030960
|
|
NM_000138.5(FBN1):c.5296+7C>T
|
|
|
NM_000138.5(FBN1):c.5296+8A>C
|
|
|
NM_000138.5(FBN1):c.5297-10C>T
|
|
|
NM_000138.5(FBN1):c.5297-15C>T
|
|
|
NM_000138.5(FBN1):c.5307G>A (p.Glu1769=)
|
|
|
NM_000138.5(FBN1):c.5343G>C (p.Val1781=)
|
|
|
NM_000138.5(FBN1):c.5358T>C (p.Val1786=)
|
rs1057521207
|
|
NM_000138.5(FBN1):c.5367C>T (p.Phe1789=)
|
|
|
NM_000138.5(FBN1):c.538+12T>A
|
|
|
NM_000138.5(FBN1):c.5391C>T (p.Phe1797=)
|
rs775373513
|
|
NM_000138.5(FBN1):c.5403C>T (p.Asp1801=)
|
|
|
NM_000138.5(FBN1):c.5409G>A (p.Leu1803=)
|
rs906226501
|
|
NM_000138.5(FBN1):c.5422+13A>T
|
|
|
NM_000138.5(FBN1):c.5423-16T>C
|
|
|
NM_000138.5(FBN1):c.5423-19A>G
|
|
|
NM_000138.5(FBN1):c.5427T>C (p.Ile1809=)
|
rs2141256134
|
|
NM_000138.5(FBN1):c.5448A>G (p.Pro1816=)
|
rs2043210295
|
|
NM_000138.5(FBN1):c.5478C>T (p.Asn1826=)
|
rs1213848361
|
|
NM_000138.5(FBN1):c.5532A>G (p.Thr1844=)
|
|
|
NM_000138.5(FBN1):c.5545+12C>T
|
rs193922213
|
|
NM_000138.5(FBN1):c.5545+15A>G
|
|
|
NM_000138.5(FBN1):c.5545+19G>C
|
|
|
NM_000138.5(FBN1):c.5546-11C>G
|
|
|
NM_000138.5(FBN1):c.5546-15G>A
|
|
|
NM_000138.5(FBN1):c.5546-8A>T
|
|
|
NM_000138.5(FBN1):c.5586T>C (p.His1862=)
|
|
|
NM_000138.5(FBN1):c.5597T>C (p.Ile1866Thr)
|
rs773133679
|
|
NM_000138.5(FBN1):c.5604A>G (p.Thr1868=)
|
|
|
NM_000138.5(FBN1):c.5607T>C (p.Val1869=)
|
rs1597535252
|
|
NM_000138.5(FBN1):c.5619T>C (p.Tyr1873=)
|
|
|
NM_000138.5(FBN1):c.5637T>G (p.Gly1879=)
|
|
|
NM_000138.5(FBN1):c.5672-14T>C
|
|
|
NM_000138.5(FBN1):c.5672-3T>C
|
rs193922217
|
|
NM_000138.5(FBN1):c.5672-5A>G
|
|
|
NM_000138.5(FBN1):c.5672-6T>A
|
rs1555395850
|
|
NM_000138.5(FBN1):c.5697C>T (p.Ala1899=)
|
rs772617187
|
|
NM_000138.5(FBN1):c.5706T>C (p.Asn1902=)
|
rs1597533673
|
|
NM_000138.5(FBN1):c.570C>T (p.Ile190=)
|
|
|
NM_000138.5(FBN1):c.5718G>C (p.Arg1906=)
|
rs1403178913
|
|
NM_000138.5(FBN1):c.5725A>G (p.Ile1909Val)
|
|
|
NM_000138.5(FBN1):c.5788+10del
|
rs761983874
|
|
NM_000138.5(FBN1):c.5788+13_5788+14del
|
rs886038252
|
|
NM_000138.5(FBN1):c.5788+15T>A
|
rs543458649
|
|
NM_000138.5(FBN1):c.5788+15T>C
|
rs543458649
|
|
NM_000138.5(FBN1):c.5789-13G>A
|
rs777593835
|
|
NM_000138.5(FBN1):c.57C>G (p.Ser19=)
|
rs1890261910
|
|
NM_000138.5(FBN1):c.5838A>G (p.Gln1946=)
|
rs759049300
|
|
NM_000138.5(FBN1):c.5850A>G (p.Thr1950=)
|
rs2043151355
|
|
NM_000138.5(FBN1):c.5892G>A (p.Val1964=)
|
|
|
NM_000138.5(FBN1):c.5917+11G>A
|
|
|
NM_000138.5(FBN1):c.5917+15del
|
|
|
NM_000138.5(FBN1):c.5917+20A>G
|
|
|
NM_000138.5(FBN1):c.5917+8C>T
|
rs1566898389
|
|
NM_000138.5(FBN1):c.5989A>C (p.Arg1997=)
|
|
|
NM_000138.5(FBN1):c.5994C>T (p.Cys1998=)
|
rs1555395648
|
|
NM_000138.5(FBN1):c.600C>T (p.Ser200=)
|
|
|
NM_000138.5(FBN1):c.6015T>C (p.Ser2005=)
|
|
|
NM_000138.5(FBN1):c.6037+10C>T
|
rs2141247970
|
|
NM_000138.5(FBN1):c.6037+16G>A
|
|
|
NM_000138.5(FBN1):c.6037+17T>C
|
|
|
NM_000138.5(FBN1):c.6038-13G>T
|
rs536742402
|
|
NM_000138.5(FBN1):c.6038-14T>C
|
rs369107058
|
|
NM_000138.5(FBN1):c.6038-16C>T
|
|
|
NM_000138.5(FBN1):c.6038-23_6038-20del
|
|
|
NM_000138.5(FBN1):c.6048G>A (p.Glu2016=)
|
rs991367684
|
|
NM_000138.5(FBN1):c.6060G>A (p.Glu2020=)
|
rs1597529860
|
|
NM_000138.5(FBN1):c.6075C>G (p.Ala2025=)
|
rs1597529820
|
|
NM_000138.5(FBN1):c.6084A>G (p.Thr2028=)
|
rs1597529803
|
|
NM_000138.5(FBN1):c.6111A>G (p.Lys2037=)
|
|
|
NM_000138.5(FBN1):c.6123A>G (p.Pro2041=)
|
|
|
NM_000138.5(FBN1):c.6129G>T (p.Gly2043=)
|
|
|
NM_000138.5(FBN1):c.6141C>T (p.Ser2047=)
|
rs2141245369
|
|
NM_000138.5(FBN1):c.6144C>T (p.Ser2048=)
|
|
|
NM_000138.5(FBN1):c.6163+17G>C
|
|
|
NM_000138.5(FBN1):c.6163+8T>G
|
|
|
NM_000138.5(FBN1):c.6164-5T>C
|
rs2043085940
|
|
NM_000138.5(FBN1):c.6188C>T (p.Ala2063Val)
|
|
|
NM_000138.5(FBN1):c.6207G>A (p.Lys2069=)
|
rs1021415072
|
|
NM_000138.5(FBN1):c.6219C>T (p.Pro2073=)
|
rs771786623
|
|
NM_000138.5(FBN1):c.621G>A (p.Thr207=)
|
rs765173237
|
|
NM_000138.5(FBN1):c.6243G>A (p.Gln2081=)
|
|
|
NM_000138.5(FBN1):c.6303G>A (p.Thr2101=)
|
rs2043084739
|
|
NM_000138.5(FBN1):c.6313+9G>A
|
|
|
NM_000138.5(FBN1):c.6314-14T>A
|
|
|
NM_000138.5(FBN1):c.6314-14T>G
|
|
|
NM_000138.5(FBN1):c.6314-6C>G
|
|
|
NM_000138.5(FBN1):c.6314-6C>T
|
rs2141240971
|
|
NM_000138.5(FBN1):c.6314A>T (p.Glu2105Val)
|
rs1165109120
|
|
NM_000138.5(FBN1):c.6348G>A (p.Gly2116=)
|
|
|
NM_000138.5(FBN1):c.636A>C (p.Thr212=)
|
|
|
NM_000138.5(FBN1):c.6375A>C (p.Ala2125=)
|
rs2141240830
|
|
NM_000138.5(FBN1):c.6375A>G (p.Ala2125=)
|
rs2141240830
|
|
NM_000138.5(FBN1):c.6379+11T>A
|
|
|
NM_000138.5(FBN1):c.6379+16T>G
|
|
|
NM_000138.5(FBN1):c.6379+17G>T
|
|
|
NM_000138.5(FBN1):c.6379+9C>T
|
rs1555395223
|
|
NM_000138.5(FBN1):c.6380-20T>C
|
|
|
NM_000138.5(FBN1):c.63G>A (p.Thr21=)
|
rs2140787726
|
|
NM_000138.5(FBN1):c.63G>C (p.Thr21=)
|
|
|
NM_000138.5(FBN1):c.645A>T (p.Arg215=)
|
rs200062771
|
|
NM_000138.5(FBN1):c.6496+10A>C
|
|
|
NM_000138.5(FBN1):c.6496+12G>A
|
rs899879407
|
|
NM_000138.5(FBN1):c.6497-13T>C
|
|
|
NM_000138.5(FBN1):c.6497-14_6497-12del
|
|
|
NM_000138.5(FBN1):c.6497-15C>T
|
rs569535886
|
|
NM_000138.5(FBN1):c.6497-19C>T
|
|
|
NM_000138.5(FBN1):c.6497-4G>A
|
|
|
NM_000138.5(FBN1):c.6497-9T>A
|
|
|
NM_000138.5(FBN1):c.6501T>C (p.Thr2167=)
|
rs2141237184
|
|
NM_000138.5(FBN1):c.6549T>C (p.Asn2183=)
|
|
|
NM_000138.5(FBN1):c.654C>T (p.Gly218=)
|
|
|
NM_000138.5(FBN1):c.6582G>A (p.Glu2194=)
|
|
|
NM_000138.5(FBN1):c.6591G>A (p.Glu2197=)
|
|
|
NM_000138.5(FBN1):c.6600A>G (p.Pro2200=)
|
|
|
NM_000138.5(FBN1):c.6616+17G>C
|
|
|
NM_000138.5(FBN1):c.6616+7C>G
|
rs778659143
|
|
NM_000138.5(FBN1):c.6617-11_6617-9del
|
rs2141235287
|
|
NM_000138.5(FBN1):c.6617-12C>T
|
|
|
NM_000138.5(FBN1):c.6617-17A>T
|
|
|
NM_000138.5(FBN1):c.6617-7G>C
|
|
|
NM_000138.5(FBN1):c.6636G>A (p.Gln2212=)
|
rs2141235218
|
|
NM_000138.5(FBN1):c.6643C>T (p.Leu2215=)
|
rs921997271
|
|
NM_000138.5(FBN1):c.6648C>A (p.Leu2216=)
|
rs755861623
|
|
NM_000138.5(FBN1):c.6648C>G (p.Leu2216=)
|
|
|
NM_000138.5(FBN1):c.6681A>T (p.Ser2227=)
|
rs363824
|
|
NM_000138.5(FBN1):c.6687A>G (p.Glu2229=)
|
|
|
NM_000138.5(FBN1):c.6705A>G (p.Gly2235=)
|
|
|
NM_000138.5(FBN1):c.6711G>A (p.Val2237=)
|
|
|
NM_000138.5(FBN1):c.6711G>T (p.Val2237=)
|
rs760867972
|
|
NM_000138.5(FBN1):c.6739+11G>A
|
|
|
NM_000138.5(FBN1):c.6739+13G>A
|
|
|
NM_000138.5(FBN1):c.6739+16C>T
|
|
|
NM_000138.5(FBN1):c.6740-10T>A
|
rs1456822662
|
|
NM_000138.5(FBN1):c.6740-11A>T
|
|
|
NM_000138.5(FBN1):c.6740-13A>C
|
|
|
NM_000138.5(FBN1):c.6740-17T>C
|
|
|
NM_000138.5(FBN1):c.6740-19G>C
|
|
|
NM_000138.5(FBN1):c.6750G>A (p.Glu2250=)
|
rs887646369
|
|
NM_000138.5(FBN1):c.6786A>G (p.Gln2262=)
|
|
|
NM_000138.5(FBN1):c.6801C>T (p.Asn2267=)
|
rs886051245
|
|
NM_000138.5(FBN1):c.6817A>G (p.Met2273Val)
|
|
|
NM_000138.5(FBN1):c.681G>A (p.Gln227=)
|
rs2141358095
|
|
NM_000138.5(FBN1):c.6832C>G (p.Pro2278Ala)
|
rs363835
|
|
NM_000138.5(FBN1):c.6837G>C (p.Gly2279=)
|
|
|
NM_000138.5(FBN1):c.6858A>G (p.Gly2286=)
|
|
|
NM_000138.5(FBN1):c.6871+10T>C
|
rs745421627
|
|
NM_000138.5(FBN1):c.6871+16T>C
|
|
|
NM_000138.5(FBN1):c.6871+7G>C
|
rs1597520513
|
|
NM_000138.5(FBN1):c.6871+8G>C
|
|
|
NM_000138.5(FBN1):c.6871+8G>T
|
|
|
NM_000138.5(FBN1):c.6871+9A>G
|
|
|
NM_000138.5(FBN1):c.6872-7C>T
|
|
|
NM_000138.5(FBN1):c.6872-961A>T
|
|
|
NM_000138.5(FBN1):c.687C>T (p.His229=)
|
rs1391600366
|
|
NM_000138.5(FBN1):c.6888G>T (p.Gln2296His)
|
rs363830
|
|
NM_000138.5(FBN1):c.6900G>A (p.Gly2300=)
|
|
|
NM_000138.5(FBN1):c.6915G>C (p.Gly2305=)
|
|
|
NM_000138.5(FBN1):c.6954T>C (p.Cys2318=)
|
|
|
NM_000138.5(FBN1):c.6972C>G (p.Ala2324=)
|
rs1597518738
|
|
NM_000138.5(FBN1):c.6987C>T (p.Asp2329=)
|
rs363831
|
|
NM_000138.5(FBN1):c.6997+10G>A
|
|
|
NM_000138.5(FBN1):c.6997+17_6997+18delinsGT
|
rs2141229764
|
|
NM_000138.5(FBN1):c.6997+19G>A
|
rs767445722
|
|
NM_000138.5(FBN1):c.6997+20C>T
|
|
|
NM_000138.5(FBN1):c.6997+7A>G
|
|
|
NM_000138.5(FBN1):c.6997+8C>T
|
|
|
NM_000138.5(FBN1):c.6998-17T>C
|
|
|
NM_000138.5(FBN1):c.6998-22_6998-5del
|
|
|
NM_000138.5(FBN1):c.6998-40del
|
rs193922229
|
|
NM_000138.5(FBN1):c.69T>C (p.His23=)
|
rs2140787712
|
|
NM_000138.5(FBN1):c.7003C>A (p.Arg2335=)
|
|
|
NM_000138.5(FBN1):c.7014C>T (p.Tyr2338=)
|
rs1555394582
|
|
NM_000138.5(FBN1):c.702C>T (p.Gly234=)
|
|
|
NM_000138.5(FBN1):c.7032A>G (p.Leu2344=)
|
rs2141229116
|
|
NM_000138.5(FBN1):c.7048A>G (p.Ile2350Val)
|
rs794728263
|
|
NM_000138.5(FBN1):c.7050C>T (p.Ile2350=)
|
rs772287755
|
|
NM_000138.5(FBN1):c.7051G>C (p.Gly2351Arg)
|
|
|
NM_000138.5(FBN1):c.7064G>A (p.Arg2355Lys)
|
rs376372763
|
|
NM_000138.5(FBN1):c.7074C>T (p.Val2358=)
|
|
|
NM_000138.5(FBN1):c.7149T>A (p.Thr2383=)
|
|
|
NM_000138.5(FBN1):c.7149T>G (p.Thr2383=)
|
|
|
NM_000138.5(FBN1):c.7175A>G (p.His2392Arg)
|
|
|
NM_000138.5(FBN1):c.7176T>C (p.His2392=)
|
|
|
NM_000138.5(FBN1):c.7201G>T (p.Ala2401Ser)
|
rs771260695
|
|
NM_000138.5(FBN1):c.7204+15G>A
|
|
|
NM_000138.5(FBN1):c.7204+20A>G
|
|
|
NM_000138.5(FBN1):c.7205-10T>A
|
|
|
NM_000138.5(FBN1):c.7205-18A>G
|
rs1555394451
|
|
NM_000138.5(FBN1):c.7205-18A>T
|
|
|
NM_000138.5(FBN1):c.7212T>C (p.Asp2404=)
|
rs2141227085
|
|
NM_000138.5(FBN1):c.7227T>A (p.Ile2409=)
|
|
|
NM_000138.5(FBN1):c.7236T>C (p.Val2412=)
|
rs1306021418
|
|
NM_000138.5(FBN1):c.7239C>T (p.Cys2413=)
|
rs2042975041
|
|
NM_000138.5(FBN1):c.723G>A (p.Thr241=)
|
rs757264206
|
|
NM_000138.5(FBN1):c.7242A>C (p.Arg2414=)
|
|
|
NM_000138.5(FBN1):c.726A>T (p.Gly242=)
|
|
|
NM_000138.5(FBN1):c.7275T>C (p.Tyr2425=)
|
|
|
NM_000138.5(FBN1):c.7305A>G (p.Pro2435=)
|
rs2042974267
|
|
NM_000138.5(FBN1):c.7309A>G (p.Ile2437Val)
|
|
|
NM_000138.5(FBN1):c.7317G>A (p.Gly2439=)
|
rs766871786
|
|
NM_000138.5(FBN1):c.7327G>A (p.Val2443Ile)
|
|
|
NM_000138.5(FBN1):c.7330+11A>G
|
|
|
NM_000138.5(FBN1):c.7330+17G>A
|
|
|
NM_000138.5(FBN1):c.7331-16A>G
|
|
|
NM_000138.5(FBN1):c.7331-17T>C
|
rs2141226524
|
|
NM_000138.5(FBN1):c.7335G>A (p.Leu2445=)
|
|
|
NM_000138.5(FBN1):c.7341G>A (p.Glu2447=)
|
rs1437889689
|
|
NM_000138.5(FBN1):c.736+17G>A
|
rs540588651
|
|
NM_000138.5(FBN1):c.737-17C>G
|
|
|
NM_000138.5(FBN1):c.737-19G>C
|
|
|
NM_000138.5(FBN1):c.737-19_737-16del
|
rs748812494
|
|
NM_000138.5(FBN1):c.737-23_737-20del
|
|
|
NM_000138.5(FBN1):c.7407A>G (p.Ser2469=)
|
rs193922232
|
|
NM_000138.5(FBN1):c.7428G>A (p.Leu2476=)
|
rs1229985371
|
|
NM_000138.5(FBN1):c.7453+10A>C
|
|
|
NM_000138.5(FBN1):c.7453+15A>G
|
|
|
NM_000138.5(FBN1):c.7453+16C>A
|
|
|
NM_000138.5(FBN1):c.7454-10T>C
|
|
|
NM_000138.5(FBN1):c.7454-13C>G
|
|
|
NM_000138.5(FBN1):c.7454-17C>T
|
|
|
NM_000138.5(FBN1):c.7454-4G>T
|
rs1365010331
|
|
NM_000138.5(FBN1):c.7464G>A (p.Glu2488=)
|
rs1597513869
|
|
NM_000138.5(FBN1):c.7476G>A (p.Lys2492=)
|
rs2141222576
|
|
NM_000138.5(FBN1):c.7503T>G (p.Val2501=)
|
|
|
NM_000138.5(FBN1):c.750C>T (p.Cys250=)
|
|
|
NM_000138.5(FBN1):c.7515C>T (p.Gly2505=)
|
rs374570475
|
|
NM_000138.5(FBN1):c.7524A>T (p.Thr2508=)
|
rs201992942
|
|
NM_000138.5(FBN1):c.7530A>G (p.Lys2510=)
|
rs754992689
|
|
NM_000138.5(FBN1):c.7570+11G>C
|
|
|
NM_000138.5(FBN1):c.7570+20A>G
|
|
|
NM_000138.5(FBN1):c.7571-5C>G
|
|
|
NM_000138.5(FBN1):c.7578T>C (p.Asn2526=)
|
|
|
NM_000138.5(FBN1):c.7581A>G (p.Glu2527=)
|
rs2141221997
|
|
NM_000138.5(FBN1):c.7608G>A (p.Gly2536=)
|
|
|
NM_000138.5(FBN1):c.7665A>G (p.Gly2555=)
|
rs1597513298
|
|
NM_000138.5(FBN1):c.7668C>T (p.Phe2556=)
|
rs2141221791
|
|
NM_000138.5(FBN1):c.7699+15C>T
|
rs1280521883
|
|
NM_000138.5(FBN1):c.7699+18C>T
|
rs753819758
|
|
NM_000138.5(FBN1):c.7699+20G>A
|
|
|
NM_000138.5(FBN1):c.7700-4T>G
|
|
|
NM_000138.5(FBN1):c.7700-7T>C
|
|
|
NM_000138.5(FBN1):c.7700-9C>G
|
rs772261791
|
|
NM_000138.5(FBN1):c.7700-9C>T
|
rs772261791
|
|
NM_000138.5(FBN1):c.7704G>T (p.Val2568=)
|
|
|
NM_000138.5(FBN1):c.7710G>A (p.Glu2570=)
|
rs748055037
|
|
NM_000138.5(FBN1):c.7728C>G (p.Arg2576=)
|
|
|
NM_000138.5(FBN1):c.7728C>T (p.Arg2576=)
|
rs751226629
|
|
NM_000138.5(FBN1):c.7779C>G (p.Pro2593=)
|
|
|
NM_000138.5(FBN1):c.7788C>T (p.Tyr2596=)
|
rs1555394142
|
|
NM_000138.5(FBN1):c.7791C>G (p.Leu2597=)
|
|
|
NM_000138.5(FBN1):c.7800C>T (p.Tyr2600=)
|
rs1404133653
|
|
NM_000138.5(FBN1):c.7820-11T>C
|
|
|
NM_000138.5(FBN1):c.7820-17T>A
|
|
|
NM_000138.5(FBN1):c.7827C>T (p.Asn2609=)
|
|
|
NM_000138.5(FBN1):c.7840G>A (p.Ala2614Thr)
|
rs1280320763
|
|
NM_000138.5(FBN1):c.7840G>C (p.Ala2614Pro)
|
rs1280320763
|
|
NM_000138.5(FBN1):c.7842T>A (p.Ala2614=)
|
rs764496589
|
|
NM_000138.5(FBN1):c.7851C>T (p.Cys2617=)
|
|
|
NM_000138.5(FBN1):c.7863C>T (p.Ser2621=)
|
rs1342441428
|
|
NM_000138.5(FBN1):c.786C>T (p.Cys262=)
|
rs1597591684
|
|
NM_000138.5(FBN1):c.789T>C (p.Ile263=)
|
rs2141353743
|
|
NM_000138.5(FBN1):c.7905C>T (p.Ala2635=)
|
|
|
NM_000138.5(FBN1):c.7932A>T (p.Gly2644=)
|
rs1597509710
|
|
NM_000138.5(FBN1):c.7962T>C (p.Ser2654=)
|
|
|
NM_000138.5(FBN1):c.7970C>T (p.Ala2657Val)
|
|
|
NM_000138.5(FBN1):c.8034C>T (p.Tyr2678=)
|
rs1597509559
|
|
NM_000138.5(FBN1):c.8037C>T (p.Phe2679=)
|
|
|
NM_000138.5(FBN1):c.8051+10G>T
|
rs1007432990
|
|
NM_000138.5(FBN1):c.8051+18T>C
|
|
|
NM_000138.5(FBN1):c.8052-10T>G
|
|
|
NM_000138.5(FBN1):c.8052-13C>T
|
|
|
NM_000138.5(FBN1):c.8052-14C>A
|
|
|
NM_000138.5(FBN1):c.8052-5T>C
|
|
|
NM_000138.5(FBN1):c.8073C>T (p.Gly2691=)
|
|
|
NM_000138.5(FBN1):c.8081G>A (p.Arg2694Gln)
|
rs371375126
|
|
NM_000138.5(FBN1):c.8082A>C (p.Arg2694=)
|
rs1597507799
|
|
NM_000138.5(FBN1):c.8089C>A (p.Pro2697Thr)
|
|
|
NM_000138.5(FBN1):c.8098C>T (p.Pro2700Ser)
|
|
|
NM_000138.5(FBN1):c.8103C>T (p.Val2701=)
|
rs1340105891
|
|
NM_000138.5(FBN1):c.810G>A (p.Glu270=)
|
|
|
NM_000138.5(FBN1):c.8121C>T (p.Asp2707=)
|
rs1566889147
|
|
NM_000138.5(FBN1):c.8136A>G (p.Pro2712=)
|
|
|
NM_000138.5(FBN1):c.8139G>A (p.Glu2713=)
|
rs2141211689
|
|
NM_000138.5(FBN1):c.8140G>T (p.Ala2714Ser)
|
|
|
NM_000138.5(FBN1):c.8148C>T (p.Tyr2716=)
|
rs112642323
|
|
NM_000138.5(FBN1):c.8157G>A (p.Lys2719=)
|
rs2042872810
|
|
NM_000138.5(FBN1):c.816A>G (p.Lys272=)
|
|
|
NM_000138.5(FBN1):c.8181C>T (p.Gly2727=)
|
|
|
NM_000138.5(FBN1):c.8185A>C (p.Lys2729Gln)
|
rs370096856
|
|
NM_000138.5(FBN1):c.819C>T (p.Cys273=)
|
|
|
NM_000138.5(FBN1):c.8222T>C (p.Ile2741Thr)
|
|
|
NM_000138.5(FBN1):c.8226+12G>A
|
rs2141211477
|
|
NM_000138.5(FBN1):c.8227-12G>A
|
|
|
NM_000138.5(FBN1):c.8227-13T>C
|
|
|
NM_000138.5(FBN1):c.8227-5dup
|
|
|
NM_000138.5(FBN1):c.8227-6T>C
|
rs1198254608
|
|
NM_000138.5(FBN1):c.8232G>C (p.Gln2744His)
|
rs376119827
|
|
NM_000138.5(FBN1):c.8235T>C (p.Ser2745=)
|
|
|
NM_000138.5(FBN1):c.8247C>T (p.Ala2749=)
|
rs1555393567
|
|
NM_000138.5(FBN1):c.8256T>C (p.Ser2752=)
|
rs2141210112
|
|
NM_000138.5(FBN1):c.8277G>A (p.Glu2759=)
|
rs1597506888
|
|
NM_000138.5(FBN1):c.8356A>G (p.Thr2786Ala)
|
rs781352764
|
|
NM_000138.5(FBN1):c.8385C>A (p.Ile2795=)
|
rs138574576
|
|
NM_000138.5(FBN1):c.846G>A (p.Val282=)
|
rs2043994063
|
|
NM_000138.5(FBN1):c.8496T>C (p.Ser2832=)
|
rs1216871823
|
|
NM_000138.5(FBN1):c.849A>G (p.Ser283=)
|
rs2141353586
|
|
NM_000138.5(FBN1):c.8500A>G (p.Thr2834Ala)
|
rs1284038548
|
|
NM_000138.5(FBN1):c.8523A>T (p.Glu2841Asp)
|
|
|
NM_000138.5(FBN1):c.8582A>T (p.Asn2861Ile)
|
rs747213800
|
|
NM_000138.5(FBN1):c.8586G>A (p.Leu2862=)
|
rs2042856515
|
|
NM_000138.5(FBN1):c.8601G>A (p.Gln2867=)
|
rs2141209442
|
|
NM_000138.5(FBN1):c.862+13A>C
|
rs2043993776
|
|
NM_000138.5(FBN1):c.862+14T>G
|
|
|
NM_000138.5(FBN1):c.863-10del
|
rs748672558
|
|
NM_000138.5(FBN1):c.863-7A>G
|
rs771131700
|
|
NM_000138.5(FBN1):c.90G>T (p.Glu30Asp)
|
rs778831047
|
|
NM_000138.5(FBN1):c.936T>C (p.Phe312=)
|
|
|
NM_000138.5(FBN1):c.948C>A (p.Pro316=)
|
|
|
NM_000138.5(FBN1):c.963C>G (p.Thr321=)
|
rs767914958
|
|
NM_000138.5(FBN1):c.972T>C (p.Asp324=)
|
|
|
NM_000138.5(FBN1):c.988+13A>G
|
|
|
NM_000138.5(FBN1):c.988+14C>A
|
|
|
NM_000138.5(FBN1):c.988+16A>G
|
|
|
NM_000138.5(FBN1):c.988+16A>T
|
|
|
NM_000138.5(FBN1):c.988+16_988+26del
|
|
|
NM_000138.5(FBN1):c.988+20G>T
|
rs375760654
|
|
NM_000138.5(FBN1):c.989-10T>A
|
|
|
NM_000138.5(FBN1):c.989-20A>G
|
|
|
NM_000138.5(FBN1):c.989-8G>A
|
|
|