NM_000138.5(FBN1):c.1693C>T (p.Arg565Ter)
|
rs113422242
|
0.00001
|
NM_000138.4(FBN1):c.305_306delinsAA (p.Cys102Ter)
|
rs1555405530
|
|
NM_000138.4(FBN1):c.5225_5249del
|
rs1555396635
|
|
NM_000138.5(FBN1):c.1156_1167del (p.Asn386_Cys389del)
|
rs672601352
|
|
NM_000138.5(FBN1):c.124del (p.Ala42fs)
|
rs1555407414
|
|
NM_000138.5(FBN1):c.1270C>T (p.Gln424Ter)
|
rs1439533354
|
|
NM_000138.5(FBN1):c.1318G>T (p.Glu440Ter)
|
rs1555400406
|
|
NM_000138.5(FBN1):c.1360C>T (p.Gln454Ter)
|
rs1555400387
|
|
NM_000138.5(FBN1):c.1422del (p.Cys474fs)
|
rs1555400379
|
|
NM_000138.5(FBN1):c.1468+5G>A
|
rs397515757
|
|
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.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.164+1G>A
|
rs794728213
|
|
NM_000138.5(FBN1):c.164+1del
|
rs1555407399
|
|
NM_000138.5(FBN1):c.1709G>A (p.Cys570Tyr)
|
rs1555400049
|
|
NM_000138.5(FBN1):c.1715-1G>A
|
rs1555399977
|
|
NM_000138.5(FBN1):c.1760G>A (p.Cys587Tyr)
|
rs1555399963
|
|
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.1837+1G>A
|
rs397515762
|
|
NM_000138.5(FBN1):c.1837+2T>C
|
rs1555399940
|
|
NM_000138.5(FBN1):c.1960+1G>C
|
rs1555399804
|
|
NM_000138.5(FBN1):c.2114-1G>C
|
rs1555399484
|
|
NM_000138.5(FBN1):c.2243del (p.Cys748fs)
|
rs1555399371
|
|
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.2412_2413del (p.Thr804_Cys805insTer)
|
rs397515769
|
|
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.2446T>C (p.Cys816Arg)
|
rs1555399206
|
|
NM_000138.5(FBN1):c.247+1G>T
|
rs25404
|
|
NM_000138.5(FBN1):c.2489G>A (p.Cys830Tyr)
|
rs397515774
|
|
NM_000138.5(FBN1):c.255C>A (p.Cys85Ter)
|
rs1555405536
|
|
NM_000138.5(FBN1):c.2562G>A (p.Trp854Ter)
|
rs1555399164
|
|
NM_000138.5(FBN1):c.2581C>T (p.Arg861Ter)
|
rs140583
|
|
NM_000138.5(FBN1):c.2586dup (p.Glu863Ter)
|
rs1555399160
|
|
NM_000138.5(FBN1):c.2657_2667del (p.Pro886fs)
|
rs1555399146
|
|
NM_000138.5(FBN1):c.2682del (p.Ile895fs)
|
rs193922194
|
|
NM_000138.5(FBN1):c.2737G>T (p.Glu913Ter)
|
rs1555398996
|
|
NM_000138.5(FBN1):c.2777G>A (p.Cys926Tyr)
|
rs1555398989
|
|
NM_000138.5(FBN1):c.2793del (p.Ser932fs)
|
rs778900586
|
|
NM_000138.5(FBN1):c.2849G>T (p.Cys950Phe)
|
rs1555398974
|
|
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.3132C>A (p.Cys1044Ter)
|
rs1555398677
|
|
NM_000138.5(FBN1):c.3143T>C (p.Ile1048Thr)
|
rs1555398673
|
|
NM_000138.5(FBN1):c.3164G>A (p.Cys1055Tyr)
|
rs397515786
|
|
NM_000138.5(FBN1):c.3202T>C (p.Cys1068Arg)
|
rs1293095681
|
|
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.3303T>A (p.Tyr1101Ter)
|
rs1555398624
|
|
NM_000138.5(FBN1):c.3347_3348del (p.Glu1116fs)
|
rs1555398580
|
|
NM_000138.5(FBN1):c.3373C>T (p.Arg1125Ter)
|
rs727505006
|
|
NM_000138.5(FBN1):c.3388del (p.His1130fs)
|
rs1555398572
|
|
NM_000138.5(FBN1):c.3458G>A (p.Cys1153Tyr)
|
rs140599
|
|
NM_000138.5(FBN1):c.3476G>A (p.Cys1159Tyr)
|
rs1555398524
|
|
NM_000138.5(FBN1):c.3513C>G (p.Cys1171Trp)
|
rs775417975
|
|
NM_000138.5(FBN1):c.3539G>A (p.Cys1180Tyr)
|
rs1555398513
|
|
NM_000138.5(FBN1):c.3559dup (p.His1187fs)
|
rs1555398508
|
|
NM_000138.5(FBN1):c.3589+1G>T
|
rs1555398501
|
|
NM_000138.5(FBN1):c.3623del (p.Cys1208fs)
|
rs1555398407
|
|
NM_000138.5(FBN1):c.3795T>A (p.Cys1265Ter)
|
rs1555398278
|
|
NM_000138.5(FBN1):c.3849del (p.Glu1283fs)
|
rs1555398174
|
|
NM_000138.5(FBN1):c.4049G>A (p.Cys1350Tyr)
|
rs1555397718
|
|
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.4210+1G>A
|
rs730880106
|
|
NM_000138.5(FBN1):c.4337-1G>T
|
rs1555397424
|
|
NM_000138.5(FBN1):c.4349G>A (p.Cys1450Tyr)
|
rs1555397419
|
|
NM_000138.5(FBN1):c.4405del (p.Arg1469fs)
|
rs794728308
|
|
NM_000138.5(FBN1):c.443del (p.Pro148fs)
|
rs1555404820
|
|
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.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.4615C>T (p.Arg1539Ter)
|
rs111231312
|
|
NM_000138.5(FBN1):c.4621C>T (p.Arg1541Ter)
|
rs794728228
|
|
NM_000138.5(FBN1):c.4665_4668del (p.Gly1556fs)
|
rs1555397160
|
|
NM_000138.5(FBN1):c.4770_4771del (p.Gly1591fs)
|
rs1555397022
|
|
NM_000138.5(FBN1):c.4786C>T (p.Arg1596Ter)
|
rs113871094
|
|
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.4943-1G>A
|
rs1555396863
|
|
NM_000138.5(FBN1):c.4974_4975del (p.Cys1658fs)
|
rs1555396858
|
|
NM_000138.5(FBN1):c.5015G>C (p.Cys1672Ser)
|
rs140627
|
|
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.5297-1G>A
|
rs1555396435
|
|
NM_000138.5(FBN1):c.5330G>A (p.Cys1777Tyr)
|
rs1060501069
|
|
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.5373T>G (p.Cys1791Trp)
|
rs1555396426
|
|
NM_000138.5(FBN1):c.5377T>A (p.Cys1793Ser)
|
rs1555396424
|
|
NM_000138.5(FBN1):c.538+2T>C
|
rs1555404799
|
|
NM_000138.5(FBN1):c.5470_5483dup (p.Gly1829fs)
|
rs1555396202
|
|
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>C (p.Cys1853Ser)
|
rs1555395989
|
|
NM_000138.5(FBN1):c.5612_5613del (p.Ser1871fs)
|
rs1555395981
|
|
NM_000138.5(FBN1):c.5635_5636del (p.Gly1879fs)
|
rs1555395978
|
|
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.5809G>T (p.Gly1937Ter)
|
rs1555395766
|
|
NM_000138.5(FBN1):c.5863C>T (p.Gln1955Ter)
|
rs363807
|
|
NM_000138.5(FBN1):c.5863del (p.Gln1955fs)
|
rs1555395753
|
|
NM_000138.5(FBN1):c.5898del (p.Asp1967fs)
|
rs1555395747
|
|
NM_000138.5(FBN1):c.5961dup (p.Thr1988fs)
|
rs1555395653
|
|
NM_000138.5(FBN1):c.6064G>T (p.Glu2022Ter)
|
rs1555395482
|
|
NM_000138.5(FBN1):c.6160C>T (p.Gln2054Ter)
|
rs1555395456
|
|
NM_000138.5(FBN1):c.6169C>T (p.Arg2057Ter)
|
rs763091520
|
|
NM_000138.5(FBN1):c.6325C>T (p.Gln2109Ter)
|
rs1555395229
|
|
NM_000138.5(FBN1):c.6388G>T (p.Glu2130Ter)
|
rs794728334
|
|
NM_000138.5(FBN1):c.643C>T (p.Arg215Ter)
|
rs111687884
|
|
NM_000138.5(FBN1):c.6496+2T>G
|
rs1555395187
|
|
NM_000138.5(FBN1):c.6583G>T (p.Gly2195Ter)
|
rs886038976
|
|
NM_000138.5(FBN1):c.660_661del (p.Pro220_Cys221insTer)
|
rs1555401679
|
|
NM_000138.5(FBN1):c.6616+1G>A
|
rs1064793980
|
|
NM_000138.5(FBN1):c.6658C>T (p.Arg2220Ter)
|
rs113001196
|
|
NM_000138.5(FBN1):c.6693del (p.Lys2231fs)
|
rs1555394901
|
|
NM_000138.5(FBN1):c.6761del (p.Gly2254fs)
|
rs1555394780
|
|
NM_000138.5(FBN1):c.680_690del (p.Gln227fs)
|
rs1555401671
|
|
NM_000138.5(FBN1):c.6886del (p.Gln2296fs)
|
rs1555394641
|
|
NM_000138.5(FBN1):c.6920G>C (p.Cys2307Ser)
|
rs137854457
|
|
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.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.7240C>T (p.Arg2414Ter)
|
rs112550005
|
|
NM_000138.5(FBN1):c.7323del (p.Cys2442fs)
|
rs1555394436
|
|
NM_000138.5(FBN1):c.7398C>A (p.Tyr2466Ter)
|
rs1555394402
|
|
NM_000138.5(FBN1):c.7432G>T (p.Glu2478Ter)
|
rs537570299
|
|
NM_000138.5(FBN1):c.7448G>C (p.Cys2483Ser)
|
rs1555394390
|
|
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.7813dup (p.Cys2605fs)
|
rs1555394138
|
|
NM_000138.5(FBN1):c.7974dup (p.Cys2659fs)
|
rs1555393848
|
|
NM_000138.5(FBN1):c.8080C>T (p.Arg2694Ter)
|
rs200309328
|
|
NM_000138.5(FBN1):c.8149G>T (p.Glu2717Ter)
|
rs187553035
|
|
NM_000138.5(FBN1):c.8154dup (p.Lys2719Ter)
|
rs794728321
|
|
NM_000138.5(FBN1):c.8536G>T (p.Glu2846Ter)
|
rs1555393508
|
|
NM_000138.5(FBN1):c.960C>A (p.Tyr320Ter)
|
rs1555401004
|
|