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)
|
|
|