ClinVar Miner

List of variants reported as pathogenic for Marfan syndrome

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ClinVar version:
Total variants: 588
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HGVS dbSNP gnomAD frequency
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054 0.00002
NM_000138.5(FBN1):c.1693C>T (p.Arg565Ter) rs113422242 0.00001
NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys) rs727503057 0.00001
NM_000138.5(FBN1):c.2920C>T (p.Arg974Cys) rs397514558 0.00001
NM_000138.5(FBN1):c.3463G>A (p.Asp1155Asn) rs794728204 0.00001
NM_000138.5(FBN1):c.4460-8G>A rs193922204 0.00001
NM_000138.5(FBN1):c.5788+5G>A rs193922219 0.00001
NM_000138.5(FBN1):c.6354C>T (p.Ile2118=) rs112989722 0.00001
NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr) rs193922228 0.00001
NM_000138.5(FBN1):c.7339G>A (p.Glu2447Lys) rs137854464 0.00001
NM_000138.5(FBN1):c.8051+5G>A rs767384075 0.00001
NM_000138.5(FBN1):c.8326C>T (p.Arg2776Ter) rs137854466 0.00001
GRCh37/hg19 15q21.1(chr15:48703187-48937906)
GRCh37/hg19 15q21.1(chr15:48707733-48758055)
GRCh37/hg19 15q21.1(chr15:48902925-48937906)
NC_000015.9:g.48703187_48748959del45773
NC_000015.9:g.48793164_49095744del
NG_008805.2:g.(135403_137120)_(206249_208942)del
NM_000138.3:c.(5065+1_5066-1)_(5545+1_5546-1)del
NM_000138.4(FBN1):c.(?_4473)_(8280_?)del
NM_000138.4(FBN1):c.(?_5475)_(5542_?)del
NM_000138.4(FBN1):c.1888_1889delinsC (p.Asn630fs) rs1060501058
NM_000138.4(FBN1):c.305_306delinsAA (p.Cys102Ter) rs1555405530
NM_000138.4(FBN1):c.40_49del (p.Phe13_Thr14insTer) rs1597652471
NM_000138.4(FBN1):c.5225_5249del rs1555396635
NM_000138.4(FBN1):c.5225_5296del rs1566902526
NM_000138.4(FBN1):c.5423-?_*2684+?del
NM_000138.4(FBN1):c.5470_5471delinsAT (p.Cys1824Ile) rs1555396205
NM_000138.4(FBN1):c.6038_6163del rs1566897376
NM_000138.4(FBN1):c.6497_6616del rs1566895223
NM_000138.4(FBN1):c.6740_6871del rs1566894226
NM_000138.4(FBN1):c.8051delinsTT (p.Gly2684fs) rs1555393824
NM_000138.5(FBN1):c.1042C>T (p.Gln348Ter) rs886039550
NM_000138.5(FBN1):c.1051C>T (p.Gln351Ter) rs397515753
NM_000138.5(FBN1):c.1066del (p.Met356fs) rs1555400609
NM_000138.5(FBN1):c.1090C>T (p.Arg364Ter) rs794728165
NM_000138.5(FBN1):c.1095C>A (p.Cys365Ter) rs397515755
NM_000138.5(FBN1):c.112A>T (p.Arg38Ter) rs1355716557
NM_000138.5(FBN1):c.1134del (p.Ile379fs) rs1060501038
NM_000138.5(FBN1):c.1148-2A>G rs397515756
NM_000138.5(FBN1):c.114del (p.Ala39fs)
NM_000138.5(FBN1):c.1156_1167del (p.Asn386_Cys389del) rs672601352
NM_000138.5(FBN1):c.1192A>T (p.Arg398Ter) rs397515754
NM_000138.5(FBN1):c.124del (p.Ala42fs) rs1555407414
NM_000138.5(FBN1):c.1270C>T (p.Gln424Ter) rs1439533354
NM_000138.5(FBN1):c.1285C>T (p.Arg429Ter) rs112645512
NM_000138.5(FBN1):c.1299dup (p.Tyr434fs) rs2141330877
NM_000138.5(FBN1):c.1318G>T (p.Glu440Ter) rs1555400406
NM_000138.5(FBN1):c.1335dup (p.Pro446fs) rs730880356
NM_000138.5(FBN1):c.1360C>T (p.Gln454Ter) rs1555400387
NM_000138.5(FBN1):c.1391del (p.Arg464fs) rs1555400385
NM_000138.5(FBN1):c.1422del (p.Cys474fs) rs1555400379
NM_000138.5(FBN1):c.1453C>T (p.Arg485Cys) rs137854485
NM_000138.5(FBN1):c.1464dup (p.Ile489fs)
NM_000138.5(FBN1):c.1468+5G>A rs397515757
NM_000138.5(FBN1):c.1468G>T (p.Asp490Tyr) rs1555400371
NM_000138.5(FBN1):c.1496G>A (p.Cys499Tyr) rs587782944
NM_000138.5(FBN1):c.1510T>C (p.Cys504Arg) rs1555400288
NM_000138.5(FBN1):c.1511G>A (p.Cys504Tyr) rs1156747241
NM_000138.5(FBN1):c.1546C>T (p.Arg516Ter) rs113812345
NM_000138.5(FBN1):c.1552G>T (p.Gly518Ter) rs794728168
NM_000138.5(FBN1):c.1556A>G (p.Tyr519Cys) rs1555400278
NM_000138.5(FBN1):c.1558C>T (p.Gln520Ter) rs1597579923
NM_000138.5(FBN1):c.1570dup (p.Thr524fs) rs1555400274
NM_000138.5(FBN1):c.1572del (p.Arg525fs) rs1060501096
NM_000138.5(FBN1):c.1575del (p.Thr526fs) rs1555400268
NM_000138.5(FBN1):c.1579G>T (p.Glu527Ter) rs1555400267
NM_000138.5(FBN1):c.1585C>T (p.Arg529Ter) rs137854476
NM_000138.5(FBN1):c.1622G>A (p.Cys541Tyr) rs1555400064
NM_000138.5(FBN1):c.1633C>T (p.Arg545Cys) rs730880099
NM_000138.5(FBN1):c.164+1G>A rs794728213
NM_000138.5(FBN1):c.164+1del rs1555407399
NM_000138.5(FBN1):c.1643A>T (p.Asn548Ile) rs137854462
NM_000138.5(FBN1):c.1646_1649delinsGT (p.Thr549fs) rs1597577975
NM_000138.5(FBN1):c.1659del (p.His554fs) rs1566915277
NM_000138.5(FBN1):c.1708T>C (p.Cys570Arg) rs113902534
NM_000138.5(FBN1):c.1709G>A (p.Cys570Tyr) rs1555400049
NM_000138.5(FBN1):c.1709del (p.Cys570fs) rs193922182
NM_000138.5(FBN1):c.1715-1G>A rs1555399977
NM_000138.5(FBN1):c.1720del (p.Asp574fs) rs2141321697
NM_000138.5(FBN1):c.1759T>C (p.Cys587Arg) rs1555399968
NM_000138.5(FBN1):c.1760G>A (p.Cys587Tyr) rs1555399963
NM_000138.5(FBN1):c.176del (p.Cys59fs) rs1597633219
NM_000138.5(FBN1):c.1782del (p.Phe594fs) rs1597577114
NM_000138.5(FBN1):c.1793G>C (p.Cys598Ser) rs1555399955
NM_000138.5(FBN1):c.1794C>G (p.Cys598Trp) rs1555399954
NM_000138.5(FBN1):c.1801G>T (p.Gly601Ter) rs1555399953
NM_000138.5(FBN1):c.1817C>G (p.Ser606Ter) rs794728176
NM_000138.5(FBN1):c.1823del (p.Gly608fs) rs1555399949
NM_000138.5(FBN1):c.1831T>C (p.Cys611Arg) rs1555399944
NM_000138.5(FBN1):c.1837+1G>A rs397515762
NM_000138.5(FBN1):c.1837+2T>C rs1555399940
NM_000138.5(FBN1):c.1849T>C (p.Cys617Arg) rs1060501017
NM_000138.5(FBN1):c.1849T>G (p.Cys617Gly) rs1060501017
NM_000138.5(FBN1):c.184C>T (p.Arg62Cys) rs25403
NM_000138.5(FBN1):c.1850G>A (p.Cys617Tyr) rs1555399836
NM_000138.5(FBN1):c.1883G>T (p.Cys628Phe) rs1555399825
NM_000138.5(FBN1):c.1884C>G (p.Cys628Trp) rs150421653
NM_000138.5(FBN1):c.189T>G (p.Tyr63Ter) rs1597633183
NM_000138.5(FBN1):c.1904A>G (p.Tyr635Cys) rs1555399816
NM_000138.5(FBN1):c.1910G>C (p.Cys637Ser) rs1478695794
NM_000138.5(FBN1):c.1936_1951dup (p.Val651fs) rs2141317141
NM_000138.5(FBN1):c.1956T>G (p.Cys652Trp) rs1566913974
NM_000138.5(FBN1):c.1957_1958dup (p.Asp654fs) rs886041350
NM_000138.5(FBN1):c.1960+1G>C rs1555399804
NM_000138.5(FBN1):c.1969_1970del (p.Met657fs) rs2141315944
NM_000138.5(FBN1):c.1995C>A (p.Tyr665Ter) rs2141315893
NM_000138.5(FBN1):c.1995C>G (p.Tyr665Ter) rs2141315893
NM_000138.5(FBN1):c.1A>C (p.Met1Leu) rs730880097
NM_000138.5(FBN1):c.2028_2029insA (p.Ala677fs) rs1060501027
NM_000138.5(FBN1):c.2051G>A (p.Cys684Tyr) rs1555399763
NM_000138.5(FBN1):c.2055C>G (p.Cys685Trp) rs140603
NM_000138.5(FBN1):c.2113+1G>C rs1566913670
NM_000138.5(FBN1):c.2114-1G>C rs1555399484
NM_000138.5(FBN1):c.2130dup (p.Cys711fs) rs1597571391
NM_000138.5(FBN1):c.2168A>C (p.Asp723Ala) rs137854463
NM_000138.5(FBN1):c.2217T>G (p.Cys739Trp) rs1008275504
NM_000138.5(FBN1):c.2243G>A (p.Cys748Tyr) rs1064794282
NM_000138.5(FBN1):c.2243del (p.Cys748fs) rs1555399371
NM_000138.5(FBN1):c.2261A>G (p.Tyr754Cys) rs137854479
NM_000138.5(FBN1):c.2269del (p.Asp757fs) rs1064793636
NM_000138.5(FBN1):c.2287T>G (p.Cys763Gly) rs1555399361
NM_000138.5(FBN1):c.2298_2301del (p.Ile766fs) rs1555399281
NM_000138.5(FBN1):c.2307T>G (p.Cys769Trp) rs2141305134
NM_000138.5(FBN1):c.2327G>A (p.Cys776Tyr) rs1555399273
NM_000138.5(FBN1):c.2341T>A (p.Cys781Ser) rs397515766
NM_000138.5(FBN1):c.2341T>C (p.Cys781Arg) rs397515766
NM_000138.5(FBN1):c.2342G>A (p.Cys781Tyr) rs1555399271
NM_000138.5(FBN1):c.2369G>A (p.Cys790Tyr) rs193922188
NM_000138.5(FBN1):c.2407A>T (p.Lys803Ter) rs397515768
NM_000138.5(FBN1):c.2412_2413del (p.Thr804_Cys805insTer) rs397515769
NM_000138.5(FBN1):c.2413T>C (p.Cys805Arg) rs2043606316
NM_000138.5(FBN1):c.2415T>G (p.Cys805Trp) rs1597569551
NM_000138.5(FBN1):c.2419+2T>G rs1597569536
NM_000138.5(FBN1):c.2432G>A (p.Cys811Tyr) rs1555399210
NM_000138.5(FBN1):c.2433C>A (p.Cys811Ter) rs193921256
NM_000138.5(FBN1):c.2433C>G (p.Cys811Trp) rs193921256
NM_000138.5(FBN1):c.2434G>T (p.Glu812Ter) rs201778577
NM_000138.5(FBN1):c.2438C>G (p.Ser813Ter) rs1597569265
NM_000138.5(FBN1):c.2446T>C (p.Cys816Arg) rs1555399206
NM_000138.5(FBN1):c.247+1G>A rs25404
NM_000138.5(FBN1):c.247+1G>T rs25404
NM_000138.5(FBN1):c.2489G>A (p.Cys830Tyr) rs397515774
NM_000138.5(FBN1):c.2495G>A (p.Cys832Tyr) rs397515775
NM_000138.5(FBN1):c.2506del (p.Ser836fs) rs1566911709
NM_000138.5(FBN1):c.2539+2T>G rs1597569159
NM_000138.5(FBN1):c.2557T>C (p.Cys853Arg) rs1555399165
NM_000138.5(FBN1):c.255C>A (p.Cys85Ter) rs1555405536
NM_000138.5(FBN1):c.2561G>A (p.Trp854Ter) rs1597568968
NM_000138.5(FBN1):c.2562G>A (p.Trp854Ter) rs1555399164
NM_000138.5(FBN1):c.2563C>T (p.Gln855Ter) rs1057519502
NM_000138.5(FBN1):c.2581C>T (p.Arg861Ter) rs140583
NM_000138.5(FBN1):c.2586dup (p.Glu863Ter) rs1555399160
NM_000138.5(FBN1):c.2629_2645dup (p.Trp883fs)
NM_000138.5(FBN1):c.2638G>A (p.Gly880Ser) rs794728194
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val) rs794728195
NM_000138.5(FBN1):c.2657_2667del (p.Pro886fs) rs1555399146
NM_000138.5(FBN1):c.266G>A (p.Cys89Tyr) rs112660651
NM_000138.5(FBN1):c.2678-15C>A rs181681840
NM_000138.5(FBN1):c.2682del (p.Ile895fs) rs193922194
NM_000138.5(FBN1):c.2696_2697dup (p.Tyr900fs) rs2141302411
NM_000138.5(FBN1):c.2729-2A>G rs113813525
NM_000138.5(FBN1):c.2737G>T (p.Glu913Ter) rs1555398996
NM_000138.5(FBN1):c.2761T>C (p.Cys921Arg) rs1597567249
NM_000138.5(FBN1):c.2762G>A (p.Cys921Tyr) rs2141300460
NM_000138.5(FBN1):c.2776T>C (p.Cys926Arg) rs2141300401
NM_000138.5(FBN1):c.2777G>A (p.Cys926Tyr) rs1555398989
NM_000138.5(FBN1):c.2777G>C (p.Cys926Ser) rs1555398989
NM_000138.5(FBN1):c.2793del (p.Ser932fs) rs778900586
NM_000138.5(FBN1):c.2849G>C (p.Cys950Ser) rs1555398974
NM_000138.5(FBN1):c.2849G>T (p.Cys950Phe) rs1555398974
NM_000138.5(FBN1):c.284C>A (p.Ser95Ter) rs922684362
NM_000138.5(FBN1):c.2855-1G>A rs112202622
NM_000138.5(FBN1):c.2855-2A>G rs2141297577
NM_000138.5(FBN1):c.2858del (p.Ile953fs) rs1555398836
NM_000138.5(FBN1):c.2875_2908dup (p.Pro970fs) rs2141297440
NM_000138.5(FBN1):c.2886C>A (p.Tyr962Ter) rs772108557
NM_000138.5(FBN1):c.2903_2910dup (p.Ile971fs) rs2141297429
NM_000138.5(FBN1):c.3012C>A (p.Tyr1004Ter) rs397515784
NM_000138.5(FBN1):c.3012C>G (p.Tyr1004Ter) rs397515784
NM_000138.5(FBN1):c.3037G>A (p.Gly1013Arg) rs140593
NM_000138.5(FBN1):c.3037G>C (p.Gly1013Arg) rs140593
NM_000138.5(FBN1):c.3081del (p.Asp1028fs) rs1555398774
NM_000138.5(FBN1):c.3096C>A (p.Cys1032Ter) rs1597564359
NM_000138.5(FBN1):c.3130T>G (p.Cys1044Gly) rs2141295251
NM_000138.5(FBN1):c.3132C>A (p.Cys1044Ter) rs1555398677
NM_000138.5(FBN1):c.3140_3141del (p.Thr1047fs) rs193922197
NM_000138.5(FBN1):c.3143T>C (p.Ile1048Thr) rs1555398673
NM_000138.5(FBN1):c.3144del (p.Ile1048fs) rs1555398672
NM_000138.5(FBN1):c.3159C>G (p.Cys1053Trp) rs886039054
NM_000138.5(FBN1):c.3164G>A (p.Cys1055Tyr) rs397515786
NM_000138.5(FBN1):c.3166del (p.Asp1056fs) rs1060501013
NM_000138.5(FBN1):c.3192del (p.Glu1065fs) rs1131692050
NM_000138.5(FBN1):c.3202T>C (p.Cys1068Arg) rs1293095681
NM_000138.5(FBN1):c.3217G>A (p.Glu1073Lys) rs137854478
NM_000138.5(FBN1):c.3217G>T (p.Glu1073Ter) rs137854478
NM_000138.5(FBN1):c.3228_3232dup (p.Pro1078fs) rs2141294789
NM_000138.5(FBN1):c.3235_3239del (p.Asp1079fs) rs1555398642
NM_000138.5(FBN1):c.3256T>C (p.Cys1086Arg) rs1555398637
NM_000138.5(FBN1):c.3274del (p.Asp1092fs) rs397515788
NM_000138.5(FBN1):c.3284G>C (p.Cys1095Ser) rs1597563934
NM_000138.5(FBN1):c.3290G>A (p.Cys1097Tyr) rs1555398627
NM_000138.5(FBN1):c.3302A>G (p.Tyr1101Cys) rs1555398625
NM_000138.5(FBN1):c.3303T>A (p.Tyr1101Ter) rs1555398624
NM_000138.5(FBN1):c.3332G>A (p.Cys1111Tyr) rs1566909766
NM_000138.5(FBN1):c.3337+1G>A rs397515789
NM_000138.5(FBN1):c.3347_3348del (p.Glu1116fs) rs1555398580
NM_000138.5(FBN1):c.3350G>A (p.Cys1117Tyr) rs137854470
NM_000138.5(FBN1):c.3370T>G (p.Cys1124Gly) rs2141293730
NM_000138.5(FBN1):c.3372_3376del (p.Cys1124fs) rs1597563280
NM_000138.5(FBN1):c.3373C>T (p.Arg1125Ter) rs727505006
NM_000138.5(FBN1):c.3375dup (p.Gly1126fs) rs1597563287
NM_000138.5(FBN1):c.3386G>A (p.Cys1129Tyr) rs137854482
NM_000138.5(FBN1):c.3388del (p.His1130fs) rs1555398572
NM_000138.5(FBN1):c.3395_3396del (p.Thr1132fs) rs2141293662
NM_000138.5(FBN1):c.3398_3399del (p.Glu1133fs) rs1597563234
NM_000138.5(FBN1):c.3398_3408del (p.Glu1133fs) rs1555398566
NM_000138.5(FBN1):c.3413G>C (p.Cys1138Ser) rs397515791
NM_000138.5(FBN1):c.3413G>T (p.Cys1138Phe) rs397515791
NM_000138.5(FBN1):c.3458G>A (p.Cys1153Tyr) rs140599
NM_000138.5(FBN1):c.3458G>T (p.Cys1153Phe)
NM_000138.5(FBN1):c.3463+1G>T rs397515792
NM_000138.5(FBN1):c.3476G>A (p.Cys1159Tyr) rs1555398524
NM_000138.5(FBN1):c.3508del (p.Arg1170fs) rs2141293265
NM_000138.5(FBN1):c.3513C>G (p.Cys1171Trp) rs775417975
NM_000138.5(FBN1):c.3535C>T (p.Gln1179Ter) rs1364210063
NM_000138.5(FBN1):c.3539G>A (p.Cys1180Tyr) rs1555398513
NM_000138.5(FBN1):c.3545G>A (p.Cys1182Tyr) rs1597562812
NM_000138.5(FBN1):c.3545_3548dup (p.Asn1183fs) rs2141293186
NM_000138.5(FBN1):c.3546C>A (p.Cys1182Ter) rs727504411
NM_000138.5(FBN1):c.3554G>A (p.Gly1185Asp) rs1555398512
NM_000138.5(FBN1):c.3557A>G (p.Tyr1186Cys) rs1555398511
NM_000138.5(FBN1):c.3559dup (p.His1187fs) rs1555398508
NM_000138.5(FBN1):c.3589+1G>T rs1555398501
NM_000138.5(FBN1):c.3603C>A (p.Cys1201Ter)
NM_000138.5(FBN1):c.3623del (p.Cys1208fs) rs1555398407
NM_000138.5(FBN1):c.364C>T (p.Arg122Cys) rs137854467
NM_000138.5(FBN1):c.3656A>G (p.Tyr1219Cys) rs1555398394
NM_000138.5(FBN1):c.3662G>A (p.Cys1221Tyr) rs137854483
NM_000138.5(FBN1):c.3668G>A (p.Cys1223Tyr) rs137854469
NM_000138.5(FBN1):c.368G>A (p.Cys123Tyr) rs397515794
NM_000138.5(FBN1):c.3703T>C (p.Ser1235Pro) rs1555398382
NM_000138.5(FBN1):c.3707G>A (p.Cys1236Tyr) rs1555398377
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn) rs794728208
NM_000138.5(FBN1):c.3725G>A (p.Cys1242Tyr) rs137854471
NM_000138.5(FBN1):c.3746G>C (p.Cys1249Ser) rs137854458
NM_000138.5(FBN1):c.3757C>T (p.Gln1253Ter) rs1131691311
NM_000138.5(FBN1):c.376G>T (p.Gly126Ter) rs1597625734
NM_000138.5(FBN1):c.3793T>C (p.Cys1265Arg) rs137854474
NM_000138.5(FBN1):c.3794G>A (p.Cys1265Tyr)
NM_000138.5(FBN1):c.3795T>A (p.Cys1265Ter) rs1555398278
NM_000138.5(FBN1):c.3849del (p.Glu1283fs) rs1555398174
NM_000138.5(FBN1):c.3851G>A (p.Cys1284Tyr) rs1555398173
NM_000138.5(FBN1):c.385T>G (p.Cys129Gly) rs199474693
NM_000138.5(FBN1):c.3871del (p.Cys1291fs) rs2141287465
NM_000138.5(FBN1):c.3893del (p.Asn1298fs) rs869025425
NM_000138.5(FBN1):c.3895dup (p.Thr1299fs) rs1555398160
NM_000138.5(FBN1):c.3973dup (p.Glu1325fs) rs1555397743
NM_000138.5(FBN1):c.4016G>C (p.Cys1339Ser) rs397515798
NM_000138.5(FBN1):c.4036T>G (p.Phe1346Val) rs1566906537
NM_000138.5(FBN1):c.4043G>A (p.Cys1348Tyr) rs1555397720
NM_000138.5(FBN1):c.4049G>A (p.Cys1350Tyr) rs1555397718
NM_000138.5(FBN1):c.4049G>T (p.Cys1350Phe) rs1555397718
NM_000138.5(FBN1):c.4061G>A (p.Trp1354Ter) rs1060501039
NM_000138.5(FBN1):c.4081T>C (p.Cys1361Arg) rs1566906506
NM_000138.5(FBN1):c.4082G>A (p.Cys1361Tyr) rs1555397704
NM_000138.5(FBN1):c.4087+1G>A rs387906548
NM_000138.5(FBN1):c.4088-2A>C rs1555397671
NM_000138.5(FBN1):c.408C>A (p.Cys136Ter) rs1555405039
NM_000138.5(FBN1):c.4099T>C (p.Cys1367Arg) rs1555397670
NM_000138.5(FBN1):c.4100G>A (p.Cys1367Tyr) rs2141279869
NM_000138.5(FBN1):c.4120T>C (p.Cys1374Arg) rs2141279837
NM_000138.5(FBN1):c.4120T>G (p.Cys1374Gly) rs2141279837
NM_000138.5(FBN1):c.4145dup (p.Asn1382fs) rs1555397663
NM_000138.5(FBN1):c.4149_4154del (p.Met1384_Gly1385del)
NM_000138.5(FBN1):c.4166G>A (p.Cys1389Tyr) rs1060501026
NM_000138.5(FBN1):c.4168_4171del (p.Leu1390fs) rs1555397655
NM_000138.5(FBN1):c.4204T>G (p.Cys1402Gly) rs2141279646
NM_000138.5(FBN1):c.4210+1G>A rs730880106
NM_000138.5(FBN1):c.4219G>T (p.Glu1407Ter) rs1597552583
NM_000138.5(FBN1):c.4222T>C (p.Cys1408Arg) rs397515802
NM_000138.5(FBN1):c.4253_4259del (p.Gly1418fs) rs398122934
NM_000138.5(FBN1):c.4255C>T (p.Gln1419Ter)
NM_000138.5(FBN1):c.4259G>A (p.Cys1420Tyr) rs397515804
NM_000138.5(FBN1):c.4259G>T (p.Cys1420Phe) rs397515804
NM_000138.5(FBN1):c.4265del (p.Asn1422fs)
NM_000138.5(FBN1):c.4285T>A (p.Cys1429Ser) rs1555397546
NM_000138.5(FBN1):c.4286G>A (p.Cys1429Tyr) rs1555397545
NM_000138.5(FBN1):c.4287T>G (p.Cys1429Trp) rs1555397543
NM_000138.5(FBN1):c.4292G>A (p.Cys1431Tyr) rs1555397540
NM_000138.5(FBN1):c.4293C>A (p.Cys1431Ter) rs112375043
NM_000138.5(FBN1):c.4293C>G (p.Cys1431Trp) rs112375043
NM_000138.5(FBN1):c.4319del (p.Asp1440fs) rs1597552388
NM_000138.5(FBN1):c.4330T>A (p.Cys1444Ser) rs869025406
NM_000138.5(FBN1):c.4337-1G>T rs1555397424
NM_000138.5(FBN1):c.4349G>A (p.Cys1450Tyr) rs1555397419
NM_000138.5(FBN1):c.4367G>C (p.Cys1456Ser) rs397515805
NM_000138.5(FBN1):c.4369_4370del (p.Val1457fs) rs1060501043
NM_000138.5(FBN1):c.439C>T (p.Gln147Ter) rs886039036
NM_000138.5(FBN1):c.4405del (p.Arg1469fs) rs794728308
NM_000138.5(FBN1):c.4409G>A (p.Cys1470Tyr) rs2043365537
NM_000138.5(FBN1):c.4414T>C (p.Cys1472Arg) rs1555397403
NM_000138.5(FBN1):c.443del (p.Pro148fs) rs1555404820
NM_000138.5(FBN1):c.4459G>A (p.Asp1487Asn) rs113693945
NM_000138.5(FBN1):c.4460A>G (p.Asp1487Gly) rs1555397216
NM_000138.5(FBN1):c.4490G>A (p.Cys1497Tyr) rs1555397212
NM_000138.5(FBN1):c.4490G>C (p.Cys1497Ser) rs1555397212
NM_000138.5(FBN1):c.4501_4511del (p.Asn1501fs) rs1555397210
NM_000138.5(FBN1):c.451G>T (p.Glu151Ter) rs1180715983
NM_000138.5(FBN1):c.4539C>G (p.Cys1513Trp) rs1555397203
NM_000138.5(FBN1):c.4567C>T (p.Arg1523Ter) rs397515812
NM_000138.5(FBN1):c.4582+2T>G rs1555397193
NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys) rs111401431
NM_000138.5(FBN1):c.4615C>T (p.Arg1539Ter) rs111231312
NM_000138.5(FBN1):c.4621C>T (p.Arg1541Ter) rs794728228
NM_000138.5(FBN1):c.4657_4658del (p.Ile1553fs)
NM_000138.5(FBN1):c.4665_4668del (p.Gly1556fs) rs1555397160
NM_000138.5(FBN1):c.4690_4691insTGTT (p.Cys1564fs) rs2141272337
NM_000138.5(FBN1):c.4710G>A (p.Trp1570Ter) rs267606799
NM_000138.5(FBN1):c.473del (p.Gly158fs) rs2140711733
NM_000138.5(FBN1):c.4747+5G>C rs193922209
NM_000138.5(FBN1):c.4770_4771del (p.Gly1591fs) rs1555397022
NM_000138.5(FBN1):c.4781del (p.Gly1594fs) rs1566904011
NM_000138.5(FBN1):c.4786C>T (p.Arg1596Ter) rs113871094
NM_000138.5(FBN1):c.4813del (p.Glu1605fs) rs1555397016
NM_000138.5(FBN1):c.4817-1_4819del rs2141269777
NM_000138.5(FBN1):c.4878del (p.Phe1626fs) rs2043314537
NM_000138.5(FBN1):c.4888C>T (p.Gln1630Ter) rs794728231
NM_000138.5(FBN1):c.4898G>A (p.Cys1633Tyr) rs1555396993
NM_000138.5(FBN1):c.4914C>A (p.Tyr1638Ter) rs1555396991
NM_000138.5(FBN1):c.4926_4927del (p.Arg1644fs) rs1555396990
NM_000138.5(FBN1):c.4930C>T (p.Arg1644Ter) rs140630
NM_000138.5(FBN1):c.493C>T (p.Arg165Ter) rs113905529
NM_000138.5(FBN1):c.4943-1G>A rs1555396863
NM_000138.5(FBN1):c.4955G>A (p.Cys1652Tyr) rs397515817
NM_000138.5(FBN1):c.4955G>C (p.Cys1652Ser)
NM_000138.5(FBN1):c.4974_4975del (p.Cys1658fs) rs1555396858
NM_000138.5(FBN1):c.4987T>C (p.Cys1663Arg) rs137854459
NM_000138.5(FBN1):c.4988G>T (p.Cys1663Phe) rs1555396853
NM_000138.5(FBN1):c.5013_5031del (p.Cys1672fs)
NM_000138.5(FBN1):c.5015G>C (p.Cys1672Ser) rs140627
NM_000138.5(FBN1):c.5021G>A (p.Cys1674Tyr) rs794728233
NM_000138.5(FBN1):c.5057del (p.Asn1686fs) rs1597545836
NM_000138.5(FBN1):c.5061C>A (p.Cys1687Ter) rs1555396838
NM_000138.5(FBN1):c.5065+1G>C rs1296209846
NM_000138.5(FBN1):c.5066-1G>A rs397515819
NM_000138.5(FBN1):c.5066-1G>C rs397515819
NM_000138.5(FBN1):c.5066del (p.Asp1689fs) rs727504347
NM_000138.5(FBN1):c.5093del (p.Asn1698fs) rs1597545309
NM_000138.5(FBN1):c.5094del (p.Tyr1699fs) rs1060501031
NM_000138.5(FBN1):c.510C>G (p.Tyr170Ter) rs111671429
NM_000138.5(FBN1):c.5125G>T (p.Glu1709Ter) rs1597545257
NM_000138.5(FBN1):c.5187G>A (p.Trp1729Ter) rs1597545199
NM_000138.5(FBN1):c.5196del (p.Cys1733fs) rs2043292041
NM_000138.5(FBN1):c.5208T>A (p.Cys1736Ter) rs794728234
NM_000138.5(FBN1):c.5213_5217del (p.Ile1738fs) rs1555396757
NM_000138.5(FBN1):c.5244_5245del (p.Cys1748fs) rs1555396636
NM_000138.5(FBN1):c.5244_5247dup (p.Ser1750fs) rs1597543486
NM_000138.5(FBN1):c.5297-1G>A rs1555396435
NM_000138.5(FBN1):c.5330G>A (p.Cys1777Tyr) rs1060501069
NM_000138.5(FBN1):c.5345G>A (p.Cys1782Tyr) rs1555396429
NM_000138.5(FBN1):c.5368C>T (p.Arg1790Ter) rs113249837
NM_000138.5(FBN1):c.5371T>C (p.Cys1791Arg) rs1555396427
NM_000138.5(FBN1):c.5372G>A (p.Cys1791Tyr) rs886038848
NM_000138.5(FBN1):c.5373T>G (p.Cys1791Trp) rs1555396426
NM_000138.5(FBN1):c.5377T>A (p.Cys1793Ser) rs1555396424
NM_000138.5(FBN1):c.5378G>A (p.Cys1793Tyr) rs1597540854
NM_000138.5(FBN1):c.538+2T>C rs1555404799
NM_000138.5(FBN1):c.5416del (p.Cys1806fs) rs1057518912
NM_000138.5(FBN1):c.5431G>T (p.Glu1811Ter) rs761857514
NM_000138.5(FBN1):c.543C>G (p.Tyr181Ter) rs1597593852
NM_000138.5(FBN1):c.5444del (p.Gly1815fs) rs2141256088
NM_000138.5(FBN1):c.5467_5474dup (p.Ile1825fs) rs2141256027
NM_000138.5(FBN1):c.5470_5483dup (p.Gly1829fs) rs1555396202
NM_000138.5(FBN1):c.5471G>T (p.Cys1824Phe) rs1597537858
NM_000138.5(FBN1):c.5493C>A (p.Tyr1831Ter) rs1555396201
NM_000138.5(FBN1):c.5493C>G (p.Tyr1831Ter) rs1555396201
NM_000138.5(FBN1):c.5503T>A (p.Cys1835Ser) rs1555396198
NM_000138.5(FBN1):c.5520del (p.Phe1841fs) rs1555396188
NM_000138.5(FBN1):c.5557T>A (p.Cys1853Ser) rs1555395990
NM_000138.5(FBN1):c.5558G>A (p.Cys1853Tyr) rs1555395989
NM_000138.5(FBN1):c.5558G>C (p.Cys1853Ser) rs1555395989
NM_000138.5(FBN1):c.5577dup (p.Cys1860fs)
NM_000138.5(FBN1):c.5612_5613del (p.Ser1871fs) rs1555395981
NM_000138.5(FBN1):c.5627G>C (p.Cys1876Ser) rs112728248
NM_000138.5(FBN1):c.5635_5636del (p.Gly1879fs) rs1555395978
NM_000138.5(FBN1):c.5636G>A (p.Gly1879Asp) rs2043178850
NM_000138.5(FBN1):c.5675_5676del (p.Ile1892fs) rs1597533713
NM_000138.5(FBN1):c.5684del (p.Cys1895fs) rs1555395846
NM_000138.5(FBN1):c.5688_5689del (p.Asp1898fs) rs1555395843
NM_000138.5(FBN1):c.5699G>A (p.Cys1900Tyr) rs794728237
NM_000138.5(FBN1):c.5699G>T (p.Cys1900Phe) rs794728237
NM_000138.5(FBN1):c.5714G>C (p.Cys1905Ser) rs112655848
NM_000138.5(FBN1):c.5726T>C (p.Ile1909Thr) rs794728333
NM_000138.5(FBN1):c.5743C>T (p.Arg1915Cys) rs1555395826
NM_000138.5(FBN1):c.577del (p.Gln193fs) rs1555401697
NM_000138.5(FBN1):c.5783G>A (p.Cys1928Tyr) rs587782947
NM_000138.5(FBN1):c.5783G>T (p.Cys1928Phe) rs587782947
NM_000138.5(FBN1):c.5788+1G>A rs1555395819
NM_000138.5(FBN1):c.5788G>A (p.Asp1930Asn) rs1555395820
NM_000138.5(FBN1):c.5800T>A (p.Cys1934Ser) rs1555395767
NM_000138.5(FBN1):c.5800T>C (p.Cys1934Arg) rs1555395767
NM_000138.5(FBN1):c.5809G>T (p.Gly1937Ter) rs1555395766
NM_000138.5(FBN1):c.5823_5824del (p.Cys1942fs) rs1060501089
NM_000138.5(FBN1):c.5826C>A (p.Cys1942Ter) rs363806
NM_000138.5(FBN1):c.5840G>A (p.Cys1947Tyr) rs397515828
NM_000138.5(FBN1):c.5857dup (p.Ser1953fs) rs1555395757
NM_000138.5(FBN1):c.5861del (p.Phe1954fs) rs1555395756
NM_000138.5(FBN1):c.5863C>T (p.Gln1955Ter) rs363807
NM_000138.5(FBN1):c.5863del (p.Gln1955fs) rs1555395753
NM_000138.5(FBN1):c.5885dup (p.Tyr1962Ter)
NM_000138.5(FBN1):c.5898del (p.Asp1967fs) rs1555395747
NM_000138.5(FBN1):c.5905del (p.Arg1969fs) rs1566898399
NM_000138.5(FBN1):c.5911T>C (p.Cys1971Arg) rs1555395745
NM_000138.5(FBN1):c.5917+1G>T rs363808
NM_000138.5(FBN1):c.5950T>C (p.Cys1984Arg) rs1555395659
NM_000138.5(FBN1):c.5956_5957insA (p.Pro1986fs) rs2141248130
NM_000138.5(FBN1):c.5961dup (p.Thr1988fs) rs1555395653
NM_000138.5(FBN1):c.5966G>T (p.Cys1989Phe) rs1597531796
NM_000138.5(FBN1):c.5992T>A (p.Cys1998Ser) rs2141248056
NM_000138.5(FBN1):c.6051T>G (p.Cys2017Trp) rs1566897420
NM_000138.5(FBN1):c.6064G>T (p.Glu2022Ter) rs1555395482
NM_000138.5(FBN1):c.6067del (p.Ile2023fs) rs1597529841
NM_000138.5(FBN1):c.6119G>A (p.Cys2040Tyr) rs397515830
NM_000138.5(FBN1):c.6149del (p.Gly2050fs) rs1597529686
NM_000138.5(FBN1):c.6151dup (p.Arg2051fs)
NM_000138.5(FBN1):c.6160C>T (p.Gln2054Ter) rs1555395456
NM_000138.5(FBN1):c.6164-1G>A rs1060501048
NM_000138.5(FBN1):c.6169C>T (p.Arg2057Ter) rs763091520
NM_000138.5(FBN1):c.6180C>G (p.Tyr2060Ter) rs974604498
NM_000138.5(FBN1):c.619dup (p.Thr207fs) rs1555401689
NM_000138.5(FBN1):c.6325C>T (p.Gln2109Ter) rs1555395229
NM_000138.5(FBN1):c.6332G>A (p.Cys2111Tyr) rs1131691467
NM_000138.5(FBN1):c.6339T>G (p.Tyr2113Ter) rs267606797
NM_000138.5(FBN1):c.6379+1G>A rs397515833
NM_000138.5(FBN1):c.6380-1G>T rs1597526073
NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys) rs794728334
NM_000138.5(FBN1):c.6388G>T (p.Glu2130Ter) rs794728334
NM_000138.5(FBN1):c.6391T>C (p.Cys2131Arg) rs1555395210
NM_000138.5(FBN1):c.6409T>G (p.Cys2137Gly) rs2141240456
NM_000138.5(FBN1):c.640G>A (p.Gly214Ser) rs794728162
NM_000138.5(FBN1):c.6414del (p.Lys2138fs) rs1555395205
NM_000138.5(FBN1):c.6425G>A (p.Cys2142Tyr) rs794728335
NM_000138.5(FBN1):c.6431A>G (p.Asn2144Ser) rs137854461
NM_000138.5(FBN1):c.643C>T (p.Arg215Ter) rs111687884
NM_000138.5(FBN1):c.6446A>G (p.Tyr2149Cys) rs113080385
NM_000138.5(FBN1):c.6453C>T (p.Cys2151=) rs794728251
NM_000138.5(FBN1):c.6496+1del rs1597525871
NM_000138.5(FBN1):c.6496+2T>G rs1555395187
NM_000138.5(FBN1):c.6541del (p.Cys2181fs) rs1060501059
NM_000138.5(FBN1):c.6583G>T (p.Gly2195Ter) rs886038976
NM_000138.5(FBN1):c.6609_6610del (p.Thr2203_Cys2204insTer) rs1555395002
NM_000138.5(FBN1):c.660_661del (p.Pro220_Cys221insTer) rs1555401679
NM_000138.5(FBN1):c.660del (p.Cys221fs) rs727505269
NM_000138.5(FBN1):c.6610T>C (p.Cys2204Arg) rs1555395001
NM_000138.5(FBN1):c.6613dup (p.Glu2205fs) rs1566895225
NM_000138.5(FBN1):c.6616+1G>A rs1064793980
NM_000138.5(FBN1):c.661del (p.Cys221fs) rs1597593695
NM_000138.5(FBN1):c.6625del (p.Glu2209fs) rs2141235258
NM_000138.5(FBN1):c.6634C>T (p.Gln2212Ter) rs1597522553
NM_000138.5(FBN1):c.6645del (p.Leu2216fs) rs1555394928
NM_000138.5(FBN1):c.6658C>T (p.Arg2220Ter) rs113001196
NM_000138.5(FBN1):c.6661T>C (p.Cys2221Arg) rs113543334
NM_000138.5(FBN1):c.6662G>C (p.Cys2221Ser) rs137854460
NM_000138.5(FBN1):c.6693del (p.Lys2231fs) rs1555394901
NM_000138.5(FBN1):c.6694T>A (p.Cys2232Ser) rs869025411
NM_000138.5(FBN1):c.6695G>C (p.Cys2232Ser) rs1060501054
NM_000138.5(FBN1):c.6701dup (p.Tyr2236fs) rs1597522390
NM_000138.5(FBN1):c.671G>A (p.Cys224Tyr) rs1566922396
NM_000138.5(FBN1):c.6739+1G>C rs869025419
NM_000138.5(FBN1):c.6740-1G>T rs1555394781
NM_000138.5(FBN1):c.6751del (p.Cys2251fs) rs1597520781
NM_000138.5(FBN1):c.6761del (p.Gly2254fs) rs1555394780
NM_000138.5(FBN1):c.6769_6770dup (p.Asp2257fs) rs2141232648
NM_000138.5(FBN1):c.6773_6774del (p.Cys2258fs) rs1555394777
NM_000138.5(FBN1):c.6783dup (p.Gln2262fs) rs2141232621
NM_000138.5(FBN1):c.6786_6787del (p.Gln2262fs) rs1555394776
NM_000138.5(FBN1):c.6804del (p.Ile2269fs) rs1597520683
NM_000138.5(FBN1):c.680_690del (p.Gln227fs) rs1555401671
NM_000138.5(FBN1):c.6834del (p.Tyr2280fs) rs1597520619
NM_000138.5(FBN1):c.6872-1G>T rs1597518951
NM_000138.5(FBN1):c.6872-961A>G rs1597519658
NM_000138.5(FBN1):c.6884G>A (p.Cys2295Tyr) rs886038949
NM_000138.5(FBN1):c.6886C>T (p.Gln2296Ter) rs727504410
NM_000138.5(FBN1):c.6886del (p.Gln2296fs) rs1555394641
NM_000138.5(FBN1):c.6916_6934del (p.Arg2306fs) rs1555394630
NM_000138.5(FBN1):c.6920G>C (p.Cys2307Ser) rs137854457
NM_000138.5(FBN1):c.6932dup (p.Gly2312fs) rs1555394631
NM_000138.5(FBN1):c.6947G>A (p.Cys2316Tyr) rs1555394629
NM_000138.5(FBN1):c.6951del (p.Glu2317fs) rs2141229903
NM_000138.5(FBN1):c.6952T>C (p.Cys2318Arg) rs111588631
NM_000138.5(FBN1):c.6963del (p.Phe2322fs) rs1060501051
NM_000138.5(FBN1):c.7015T>C (p.Cys2339Arg) rs1555394581
NM_000138.5(FBN1):c.7039_7040del (p.Met2347fs) rs794728319
NM_000138.5(FBN1):c.7058del (p.Ser2353fs) rs1555394574
NM_000138.5(FBN1):c.7082C>A (p.Ser2361Ter) rs397515844
NM_000138.5(FBN1):c.7099G>T (p.Gly2367Ter) rs368978109
NM_000138.5(FBN1):c.7112G>A (p.Trp2371Ter) rs1555394567
NM_000138.5(FBN1):c.7116dup (p.Pro2373fs) rs2141228932
NM_000138.5(FBN1):c.7141C>T (p.Gln2381Ter) rs869025414
NM_000138.5(FBN1):c.7151_7152del (p.Val2384fs) rs869025423
NM_000138.5(FBN1):c.7167_7168del (p.Cys2390fs) rs397515846
NM_000138.5(FBN1):c.7180C>T (p.Arg2394Ter) rs397515848
NM_000138.5(FBN1):c.718C>T (p.Arg240Cys) rs137854480
NM_000138.5(FBN1):c.7204+1G>A rs1555394557
NM_000138.5(FBN1):c.7204+1G>T rs1555394557
NM_000138.5(FBN1):c.7217G>A (p.Cys2406Tyr) rs1131691479
NM_000138.5(FBN1):c.7228_7232dup (p.Val2412fs) rs1555394445
NM_000138.5(FBN1):c.7240C>T (p.Arg2414Ter) rs112550005
NM_000138.5(FBN1):c.7286G>T (p.Cys2429Phe) rs2141226916
NM_000138.5(FBN1):c.7323del (p.Cys2442fs) rs1555394436
NM_000138.5(FBN1):c.7324T>A (p.Cys2442Ser) rs1555394435
NM_000138.5(FBN1):c.7383del (p.Asn2461fs) rs2141226409
NM_000138.5(FBN1):c.7398C>A (p.Tyr2466Ter) rs1555394402
NM_000138.5(FBN1):c.7402T>C (p.Cys2468Arg) rs1085308004
NM_000138.5(FBN1):c.7432G>T (p.Glu2478Ter) rs537570299
NM_000138.5(FBN1):c.7447T>C (p.Cys2483Arg) rs1555394391
NM_000138.5(FBN1):c.7448G>C (p.Cys2483Ser) rs1555394390
NM_000138.5(FBN1):c.7455_7821del
NM_000138.5(FBN1):c.7498T>C (p.Cys2500Arg) rs363810
NM_000138.5(FBN1):c.7499G>A (p.Cys2500Tyr) rs794728160
NM_000138.5(FBN1):c.7525T>A (p.Cys2509Ser) rs1060501055
NM_000138.5(FBN1):c.7527C>A (p.Cys2509Ter) rs2141222456
NM_000138.5(FBN1):c.7531T>C (p.Cys2511Arg) rs794728272
NM_000138.5(FBN1):c.7532G>A (p.Cys2511Tyr) rs1555394238
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg) rs363811
NM_000138.5(FBN1):c.7540G>T (p.Gly2514Ter)
NM_000138.5(FBN1):c.7559del (p.Thr2520fs) rs1597513708
NM_000138.5(FBN1):c.7570+5G>A rs1566891797
NM_000138.5(FBN1):c.7605C>A (p.Cys2535Ter) rs113544411
NM_000138.5(FBN1):c.7606G>A (p.Gly2536Arg) rs397515854
NM_000138.5(FBN1):c.7649G>A (p.Cys2550Tyr) rs1555394196
NM_000138.5(FBN1):c.7650_7651insA (p.Glu2551fs) rs1060501042
NM_000138.5(FBN1):c.7656C>A (p.Cys2552Ter) rs1555394195
NM_000138.5(FBN1):c.7693del (p.Cys2565fs) rs2141221743
NM_000138.5(FBN1):c.7694G>A (p.Cys2565Tyr) rs1566891645
NM_000138.5(FBN1):c.7699+2T>C
NM_000138.5(FBN1):c.7712G>A (p.Cys2571Tyr) rs1555394153
NM_000138.5(FBN1):c.7729dup (p.Cys2577fs) rs1555394151
NM_000138.5(FBN1):c.772C>T (p.Gln258Ter) rs146348130
NM_000138.5(FBN1):c.7780C>T (p.Gln2594Ter) rs1555394144
NM_000138.5(FBN1):c.7780del (p.Gln2594fs) rs1555394146
NM_000138.5(FBN1):c.7785del (p.Tyr2596fs) rs1566891406
NM_000138.5(FBN1):c.7806G>A (p.Trp2602Ter) rs193922236
NM_000138.5(FBN1):c.7813dup (p.Cys2605fs) rs1555394138
NM_000138.5(FBN1):c.7820-1G>C rs1597509836
NM_000138.5(FBN1):c.7828G>A (p.Glu2610Lys) rs111984349
NM_000138.5(FBN1):c.7871A>G (p.Asn2624Ser) rs113935744
NM_000138.5(FBN1):c.7879G>A (p.Gly2627Arg) rs193922239
NM_000138.5(FBN1):c.7892G>T (p.Cys2631Phe) rs111856492
NM_000138.5(FBN1):c.7951G>T (p.Glu2651Ter) rs1555393859
NM_000138.5(FBN1):c.7955G>A (p.Cys2652Tyr) rs397515859
NM_000138.5(FBN1):c.7974dup (p.Cys2659fs) rs1555393848
NM_000138.5(FBN1):c.7977C>A (p.Cys2659Ter) rs1555393844
NM_000138.5(FBN1):c.7988G>C (p.Cys2663Ser) rs1597509631
NM_000138.5(FBN1):c.8009del (p.Tyr2670fs) rs2141214634
NM_000138.5(FBN1):c.801del (p.Ser268fs) rs1060501050
NM_000138.5(FBN1):c.8021G>A (p.Cys2674Tyr) rs1555393827
NM_000138.5(FBN1):c.8038C>T (p.Arg2680Cys) rs794728283
NM_000138.5(FBN1):c.8059_8060del (p.Val2687fs) rs2042873946
NM_000138.5(FBN1):c.8080C>T (p.Arg2694Ter) rs200309328
NM_000138.5(FBN1):c.8148C>G (p.Tyr2716Ter) rs112642323
NM_000138.5(FBN1):c.8149G>T (p.Glu2717Ter) rs187553035
NM_000138.5(FBN1):c.814delinsTGGACACAATGCCCTGCTGGACACAAACTT (p.Lys272fs) rs1597591643
NM_000138.5(FBN1):c.8154dup (p.Lys2719Ter) rs794728321
NM_000138.5(FBN1):c.8265_8266delinsAGGA (p.Ser2755fs) rs727504651
NM_000138.5(FBN1):c.8267G>A (p.Trp2756Ter) rs397515861
NM_000138.5(FBN1):c.8268G>A (p.Trp2756Ter) rs267606796
NM_000138.5(FBN1):c.8416dup (p.Ile2806fs) rs1555393538
NM_000138.5(FBN1):c.8512A>T (p.Lys2838Ter) rs1597506641
NM_000138.5(FBN1):c.8516dup (p.Lys2840fs) rs1555393514
NM_000138.5(FBN1):c.8521G>T (p.Glu2841Ter) rs587782948
NM_000138.5(FBN1):c.8525_8529del (p.Leu2842fs) rs1064794130
NM_000138.5(FBN1):c.8536G>T (p.Glu2846Ter) rs1555393508
NM_000138.5(FBN1):c.8554_8561delinsTATCAC (p.Asp2852fs) rs2141209520
NM_000138.5(FBN1):c.859G>T (p.Glu287Ter) rs1597591602
NM_000138.5(FBN1):c.871G>T (p.Glu291Ter) rs1232880706
NM_000138.5(FBN1):c.937T>C (p.Cys313Arg) rs2141343372
NM_000138.5(FBN1):c.958dup (p.Tyr320fs) rs397515867
NM_000138.5(FBN1):c.960C>A (p.Tyr320Ter) rs1555401004
NM_000138.5(FBN1):c.961_962del (p.Thr321fs) rs1555401002
NM_000138.5(FBN1):c.974_983del (p.Gly325fs) rs1566919599
NM_000138.5(FBN1):c.978del (p.Arg327fs) rs1060501094
NM_000138.5(FBN1):c.989-1G>C rs1555400616
NM_000428.3(LTBP2):c.1642C>T (p.Arg548Ter) rs137854855
NM_003242.6(TGFBR2):c.1570G>A (p.Asp524Asn) rs727504421
Single allele
t(9;15)(p13.3;q21.1)

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