NM_000138.5(FBN1):c.442+1G>A
|
rs868403743
|
0.00003
|
NM_000138.5(FBN1):c.3374G>A (p.Arg1125Gln)
|
rs768831064
|
0.00002
|
NM_000138.5(FBN1):c.5443G>A (p.Gly1815Ser)
|
rs745680336
|
0.00002
|
NM_000138.5(FBN1):c.5518C>T (p.Arg1840Cys)
|
rs765387131
|
0.00002
|
NM_000138.5(FBN1):c.287G>C (p.Arg96Thr)
|
rs794728291
|
0.00001
|
NM_000138.5(FBN1):c.2926C>T (p.Arg976Cys)
|
rs548296552
|
0.00001
|
NM_000138.5(FBN1):c.3184G>A (p.Asp1062Asn)
|
rs758366498
|
0.00001
|
NM_000138.5(FBN1):c.3409C>T (p.Arg1137Cys)
|
rs1439487763
|
0.00001
|
NM_000138.5(FBN1):c.4460-8G>A
|
rs193922204
|
0.00001
|
NM_000138.5(FBN1):c.6448C>T (p.Arg2150Cys)
|
rs76702162
|
0.00001
|
NM_000138.5(FBN1):c.6499A>C (p.Thr2167Pro)
|
rs373510719
|
0.00001
|
NM_000138.5(FBN1):c.6724C>T (p.Arg2242Cys)
|
rs779749926
|
0.00001
|
NM_000138.5(FBN1):c.6916C>T (p.Arg2306Cys)
|
rs1318405523
|
0.00001
|
NM_000138.5(FBN1):c.7339G>A (p.Glu2447Lys)
|
rs137854464
|
0.00001
|
NM_000138.5(FBN1):c.1148-1G>A
|
rs1555400431
|
|
NM_000138.5(FBN1):c.1420T>C (p.Cys474Arg)
|
rs1555400380
|
|
NM_000138.5(FBN1):c.1481G>A (p.Cys494Tyr)
|
rs1057518881
|
|
NM_000138.5(FBN1):c.1516A>T (p.Asn506Tyr)
|
rs2141327814
|
|
NM_000138.5(FBN1):c.1522C>T (p.Gln508Ter)
|
rs1057521859
|
|
NM_000138.5(FBN1):c.1545_1546inv (p.Cys515_Arg516delinsTrpGly)
|
|
|
NM_000138.5(FBN1):c.1552G>A (p.Gly518Arg)
|
rs794728168
|
|
NM_000138.5(FBN1):c.1583G>A (p.Cys528Tyr)
|
rs794728170
|
|
NM_000138.5(FBN1):c.1606C>T (p.Gln536Ter)
|
rs1479709398
|
|
NM_000138.5(FBN1):c.1766A>G (p.Asn589Ser)
|
rs1555399962
|
|
NM_000138.5(FBN1):c.1774G>T (p.Gly592Cys)
|
rs1057521211
|
|
NM_000138.5(FBN1):c.1783A>T (p.Lys595Ter)
|
rs1555399958
|
|
NM_000138.5(FBN1):c.1837+5G>A
|
rs1445085747
|
|
NM_000138.5(FBN1):c.1846G>A (p.Glu616Lys)
|
rs397515764
|
|
NM_000138.5(FBN1):c.1846G>T (p.Glu616Ter)
|
rs397515764
|
|
NM_000138.5(FBN1):c.1883G>A (p.Cys628Tyr)
|
rs1555399825
|
|
NM_000138.5(FBN1):c.1883G>C (p.Cys628Ser)
|
|
|
NM_000138.5(FBN1):c.1884C>G (p.Cys628Trp)
|
rs150421653
|
|
NM_000138.5(FBN1):c.2113+2T>G
|
rs730880105
|
|
NM_000138.5(FBN1):c.2147G>A (p.Gly716Glu)
|
rs794728185
|
|
NM_000138.5(FBN1):c.2227C>T (p.Arg743Cys)
|
rs794728188
|
|
NM_000138.5(FBN1):c.2237A>G (p.Tyr746Cys)
|
rs1555399372
|
|
NM_000138.5(FBN1):c.2243G>A (p.Cys748Tyr)
|
rs1064794282
|
|
NM_000138.5(FBN1):c.2262_2263del (p.Tyr754_Glu755delinsTer)
|
rs794728300
|
|
NM_000138.5(FBN1):c.2293+5G>A
|
rs794728327
|
|
NM_000138.5(FBN1):c.2303A>C (p.Glu768Ala)
|
rs794728189
|
|
NM_000138.5(FBN1):c.2446T>C (p.Cys816Arg)
|
rs1555399206
|
|
NM_000138.5(FBN1):c.2539+1G>A
|
rs794728192
|
|
NM_000138.5(FBN1):c.2627G>A (p.Cys876Tyr)
|
rs794728193
|
|
NM_000138.5(FBN1):c.2639G>A (p.Gly880Asp)
|
rs886038953
|
|
NM_000138.5(FBN1):c.2644G>A (p.Ala882Thr)
|
rs2043594915
|
|
NM_000138.5(FBN1):c.2673A>G (p.Gln891=)
|
rs1555399143
|
|
NM_000138.5(FBN1):c.2677+5G>C
|
rs1085307946
|
|
NM_000138.5(FBN1):c.2677G>T (p.Asp893Tyr)
|
rs193922193
|
|
NM_000138.5(FBN1):c.2678-3C>G
|
rs747274959
|
|
NM_000138.5(FBN1):c.2722T>C (p.Cys908Arg)
|
rs1060501021
|
|
NM_000138.5(FBN1):c.2723G>C (p.Cys908Ser)
|
rs1057523406
|
|
NM_000138.5(FBN1):c.2737G>A (p.Glu913Lys)
|
rs1555398996
|
|
NM_000138.5(FBN1):c.2860C>T (p.Arg954Cys)
|
rs1555398835
|
|
NM_000138.5(FBN1):c.2934dup (p.Ala979fs)
|
rs1555398821
|
|
NM_000138.5(FBN1):c.2945G>C (p.Cys982Ser)
|
rs1057524458
|
|
NM_000138.5(FBN1):c.2953G>A (p.Gly985Arg)
|
rs794728199
|
|
NM_000138.5(FBN1):c.305G>T (p.Cys102Phe)
|
rs794728292
|
|
NM_000138.5(FBN1):c.306C>A (p.Cys102Ter)
|
rs25388
|
|
NM_000138.5(FBN1):c.3082G>A (p.Asp1028Asn)
|
rs1555398769
|
|
NM_000138.5(FBN1):c.3083A>G (p.Asp1028Gly)
|
rs1131691317
|
|
NM_000138.5(FBN1):c.3094T>C (p.Cys1032Arg)
|
rs1555398684
|
|
NM_000138.5(FBN1):c.3131G>T (p.Cys1044Phe)
|
rs730880100
|
|
NM_000138.5(FBN1):c.3145G>T (p.Gly1049Cys)
|
rs778181932
|
|
NM_000138.5(FBN1):c.3283T>A (p.Cys1095Ser)
|
rs1064793113
|
|
NM_000138.5(FBN1):c.3289T>C (p.Cys1097Arg)
|
rs1131691578
|
|
NM_000138.5(FBN1):c.3299G>C (p.Gly1100Ala)
|
rs112547596
|
|
NM_000138.5(FBN1):c.3302A>G (p.Tyr1101Cys)
|
rs1555398625
|
|
NM_000138.5(FBN1):c.3338A>G (p.Asp1113Gly)
|
rs140597
|
|
NM_000138.5(FBN1):c.3380G>T (p.Gly1127Val)
|
rs1064794882
|
|
NM_000138.5(FBN1):c.3475T>A (p.Cys1159Ser)
|
rs794728205
|
|
NM_000138.5(FBN1):c.3496T>C (p.Cys1166Arg)
|
rs1064794796
|
|
NM_000138.5(FBN1):c.3596A>G (p.Asp1199Gly)
|
rs794728206
|
|
NM_000138.5(FBN1):c.3668G>T (p.Cys1223Phe)
|
rs137854469
|
|
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn)
|
rs794728208
|
|
NM_000138.5(FBN1):c.3712G>C (p.Asp1238His)
|
rs794728208
|
|
NM_000138.5(FBN1):c.3713A>G (p.Asp1238Gly)
|
|
|
NM_000138.5(FBN1):c.3761G>A (p.Cys1254Tyr)
|
rs1131691805
|
|
NM_000138.5(FBN1):c.3789C>G (p.Cys1263Trp)
|
rs1057518444
|
|
NM_000138.5(FBN1):c.3838G>A (p.Asp1280Asn)
|
rs794728210
|
|
NM_000138.5(FBN1):c.3839-5_3842del
|
rs1555398178
|
|
NM_000138.5(FBN1):c.3851G>A (p.Cys1284Tyr)
|
rs1555398173
|
|
NM_000138.5(FBN1):c.386del (p.Cys129fs)
|
rs1555405046
|
|
NM_000138.5(FBN1):c.3886T>C (p.Cys1296Arg)
|
rs397515797
|
|
NM_000138.5(FBN1):c.3965-3C>G
|
|
|
NM_000138.5(FBN1):c.3977G>A (p.Cys1326Tyr)
|
rs1555397738
|
|
NM_000138.5(FBN1):c.4036_4037insACATTTGAAGCTTCCTGCTGTATTGGTACATACAGCAGGAAGCT (p.Phe1346delinsTyrIleTer)
|
rs1597554086
|
|
NM_000138.5(FBN1):c.4043G>A (p.Cys1348Tyr)
|
rs1555397720
|
|
NM_000138.5(FBN1):c.4087G>A (p.Asp1363Asn)
|
|
|
NM_000138.5(FBN1):c.4094A>G (p.Asp1365Gly)
|
rs794728217
|
|
NM_000138.5(FBN1):c.4138T>C (p.Cys1380Arg)
|
rs1131691588
|
|
NM_000138.5(FBN1):c.4146T>A (p.Asn1382Lys)
|
rs794728218
|
|
NM_000138.5(FBN1):c.4382G>C (p.Cys1461Ser)
|
rs1057522902
|
|
NM_000138.5(FBN1):c.4382G>T (p.Cys1461Phe)
|
rs1057522902
|
|
NM_000138.5(FBN1):c.4407_4409dup (p.Cys1470dup)
|
rs1555397404
|
|
NM_000138.5(FBN1):c.4467T>A (p.Asn1489Lys)
|
rs193922205
|
|
NM_000138.5(FBN1):c.4489T>C (p.Cys1497Arg)
|
rs1555397213
|
|
NM_000138.5(FBN1):c.4520G>A (p.Gly1507Asp)
|
rs794728225
|
|
NM_000138.5(FBN1):c.4532G>A (p.Cys1511Tyr)
|
rs1060501074
|
|
NM_000138.5(FBN1):c.4582+4del
|
rs2141272841
|
|
NM_000138.5(FBN1):c.461G>C (p.Cys154Ser)
|
rs1057521103
|
|
NM_000138.5(FBN1):c.4688G>C (p.Cys1563Ser)
|
rs1131691871
|
|
NM_000138.5(FBN1):c.4831C>T (p.Gln1611Ter)
|
rs1555397004
|
|
NM_000138.5(FBN1):c.4936T>G (p.Cys1646Gly)
|
rs1064793115
|
|
NM_000138.5(FBN1):c.5066-2A>G
|
|
|
NM_000138.5(FBN1):c.5073AAG[1] (p.Arg1692del)
|
rs1555396789
|
|
NM_000138.5(FBN1):c.5095T>G (p.Tyr1699Asp)
|
|
|
NM_000138.5(FBN1):c.5177G>A (p.Gly1726Asp)
|
rs1064797059
|
|
NM_000138.5(FBN1):c.5285G>T (p.Gly1762Val)
|
rs1057524697
|
|
NM_000138.5(FBN1):c.5431G>A (p.Glu1811Lys)
|
rs761857514
|
|
NM_000138.5(FBN1):c.5434T>G (p.Cys1812Gly)
|
rs1597537935
|
|
NM_000138.5(FBN1):c.5470T>C (p.Cys1824Arg)
|
rs1131691478
|
|
NM_000138.5(FBN1):c.5665T>C (p.Cys1889Arg)
|
|
|
NM_000138.5(FBN1):c.5680G>A (p.Glu1894Lys)
|
rs1057521101
|
|
NM_000138.5(FBN1):c.5767T>C (p.Ser1923Pro)
|
rs794728239
|
|
NM_000138.5(FBN1):c.5789A>G (p.Asp1930Gly)
|
|
|
NM_000138.5(FBN1):c.5825G>T (p.Cys1942Phe)
|
rs794728241
|
|
NM_000138.5(FBN1):c.5839T>C (p.Cys1947Arg)
|
rs1131691938
|
|
NM_000138.5(FBN1):c.5917+1G>A
|
rs363808
|
|
NM_000138.5(FBN1):c.5993G>A (p.Cys1998Tyr)
|
rs1085307531
|
|
NM_000138.5(FBN1):c.5999G>T (p.Cys2000Phe)
|
rs1555395645
|
|
NM_000138.5(FBN1):c.6032G>A (p.Cys2011Tyr)
|
rs886038967
|
|
NM_000138.5(FBN1):c.6037+1G>A
|
rs1064796636
|
|
NM_000138.5(FBN1):c.6037+2_6037+24del
|
rs1555395636
|
|
NM_000138.5(FBN1):c.6046G>A (p.Glu2016Lys)
|
rs2141245531
|
|
NM_000138.5(FBN1):c.6086G>A (p.Cys2029Tyr)
|
rs1057517855
|
|
NM_000138.5(FBN1):c.6112T>G (p.Cys2038Gly)
|
rs1064796731
|
|
NM_000138.5(FBN1):c.6206del (p.Lys2069fs)
|
rs1057518034
|
|
NM_000138.5(FBN1):c.6208T>C (p.Cys2070Arg)
|
|
|
NM_000138.5(FBN1):c.6251G>T (p.Cys2084Phe)
|
rs794728245
|
|
NM_000138.5(FBN1):c.6277G>A (p.Gly2093Arg)
|
rs1064793117
|
|
NM_000138.5(FBN1):c.629G>A (p.Cys210Tyr)
|
rs1085307468
|
|
NM_000138.5(FBN1):c.6313+3A>G
|
rs1555395256
|
|
NM_000138.5(FBN1):c.6313G>C (p.Glu2105Gln)
|
rs794728247
|
|
NM_000138.5(FBN1):c.6322C>T (p.Arg2108Cys)
|
rs1246984265
|
|
NM_000138.5(FBN1):c.6332G>A (p.Cys2111Tyr)
|
rs1131691467
|
|
NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys)
|
rs794728334
|
|
NM_000138.5(FBN1):c.6418G>A (p.Gly2140Arg)
|
rs794728249
|
|
NM_000138.5(FBN1):c.6419G>A (p.Gly2140Glu)
|
rs1064793118
|
|
NM_000138.5(FBN1):c.641G>A (p.Gly214Asp)
|
|
|
NM_000138.5(FBN1):c.6496G>T (p.Asp2166Tyr)
|
rs794728252
|
|
NM_000138.5(FBN1):c.6503A>G (p.Asp2168Gly)
|
rs1555395015
|
|
NM_000138.5(FBN1):c.6541T>C (p.Cys2181Arg)
|
rs1131691373
|
|
NM_000138.5(FBN1):c.6596del (p.Gly2199fs)
|
rs1555395004
|
|
NM_000138.5(FBN1):c.6629G>A (p.Cys2210Tyr)
|
rs2141235242
|
|
NM_000138.5(FBN1):c.6650G>A (p.Cys2217Tyr)
|
rs794728254
|
|
NM_000138.5(FBN1):c.6656T>G (p.Phe2219Cys)
|
rs397515837
|
|
NM_000138.5(FBN1):c.6707A>G (p.Tyr2236Cys)
|
rs368439899
|
|
NM_000138.5(FBN1):c.6793T>G (p.Cys2265Gly)
|
rs1057522272
|
|
NM_000138.5(FBN1):c.6815A>G (p.Tyr2272Cys)
|
rs2141232534
|
|
NM_000138.5(FBN1):c.6872-14A>G
|
rs1064793119
|
|
NM_000138.5(FBN1):c.700_702delinsTGT (p.Gly234Cys)
|
rs794728293
|
|
NM_000138.5(FBN1):c.7132T>C (p.Cys2378Arg)
|
rs794728267
|
|
NM_000138.5(FBN1):c.7204G>C (p.Asp2402His)
|
rs1057524757
|
|
NM_000138.5(FBN1):c.7217G>A (p.Cys2406Tyr)
|
rs1131691479
|
|
NM_000138.5(FBN1):c.7246G>A (p.Gly2416Arg)
|
rs794728269
|
|
NM_000138.5(FBN1):c.7252dup (p.Cys2418fs)
|
|
|
NM_000138.5(FBN1):c.7253G>A (p.Cys2418Tyr)
|
rs794728270
|
|
NM_000138.5(FBN1):c.736+1G>A
|
rs1064796866
|
|
NM_000138.5(FBN1):c.7364G>A (p.Cys2455Tyr)
|
rs1555394409
|
|
NM_000138.5(FBN1):c.737-2A>G
|
rs1131691772
|
|
NM_000138.5(FBN1):c.7376G>A (p.Cys2459Tyr)
|
rs1555394406
|
|
NM_000138.5(FBN1):c.7402T>C (p.Cys2468Arg)
|
rs1085308004
|
|
NM_000138.5(FBN1):c.7432_7435del (p.Glu2478fs)
|
rs1057518012
|
|
NM_000138.5(FBN1):c.7454A>G (p.Asp2485Gly)
|
rs1085307921
|
|
NM_000138.5(FBN1):c.7499G>A (p.Cys2500Tyr)
|
rs794728160
|
|
NM_000138.5(FBN1):c.7505A>T (p.Asn2502Ile)
|
rs1555394243
|
|
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg)
|
rs363811
|
|
NM_000138.5(FBN1):c.7600C>A (p.Leu2534Met)
|
rs794728274
|
|
NM_000138.5(FBN1):c.7663G>A (p.Gly2555Arg)
|
rs1566891655
|
|
NM_000138.5(FBN1):c.7708G>A (p.Glu2570Lys)
|
rs886038786
|
|
NM_000138.5(FBN1):c.7726C>T (p.Arg2576Cys)
|
rs147195031
|
|
NM_000138.5(FBN1):c.7770C>G (p.Cys2590Trp)
|
rs1064796667
|
|
NM_000138.5(FBN1):c.7775G>T (p.Cys2592Phe)
|
rs112118237
|
|
NM_000138.5(FBN1):c.7787A>G (p.Tyr2596Cys)
|
rs1566891404
|
|
NM_000138.5(FBN1):c.7862C>G (p.Ser2621Cys)
|
rs1085307887
|
|
NM_000138.5(FBN1):c.7879G>C (p.Gly2627Arg)
|
rs193922239
|
|
NM_000138.5(FBN1):c.7880G>A (p.Gly2627Glu)
|
rs1555393875
|
|
NM_000138.5(FBN1):c.7931_7934dup (p.Cys2646fs)
|
rs1555393865
|
|
NM_000138.5(FBN1):c.7955G>A (p.Cys2652Tyr)
|
rs397515859
|
|
NM_000138.5(FBN1):c.8002G>T (p.Gly2668Cys)
|
rs1057521100
|
|
NM_000138.5(FBN1):c.8005G>T (p.Gly2669Cys)
|
rs794728281
|
|
NM_000138.5(FBN1):c.8006G>T (p.Gly2669Val)
|
rs886038869
|
|
NM_000138.5(FBN1):c.8021G>A (p.Cys2674Tyr)
|
rs1555393827
|
|
NM_000138.5(FBN1):c.8021G>C (p.Cys2674Ser)
|
rs1555393827
|
|
NM_000138.5(FBN1):c.811T>G (p.Cys271Gly)
|
rs1060501019
|
|
NM_000138.5(FBN1):c.8170C>T (p.Pro2724Ser)
|
rs1085307904
|
|
NM_000138.5(FBN1):c.8275G>T (p.Glu2759Ter)
|
rs1057518023
|
|
NM_000138.5(FBN1):c.8360dup (p.Thr2788fs)
|
rs1555393548
|
|
NM_000138.5(FBN1):c.8422del (p.Gln2808fs)
|
rs1131691692
|
|
NM_000138.5(FBN1):c.8521G>T (p.Glu2841Ter)
|
rs587782948
|
|
NM_000138.5(FBN1):c.911G>A (p.Cys304Tyr)
|
rs1555401011
|
|