NM_000138.5(FBN1):c.2057C>A (p.Ala686Asp)
|
rs193922186
|
0.00001
|
NM_000138.5(FBN1):c.4460-8G>A
|
rs193922204
|
0.00001
|
NM_000138.5(FBN1):c.484G>A (p.Ala162Thr)
|
rs193922210
|
0.00001
|
NM_000138.4(FBN1):c.4812_4813delinsCT (p.Leu1604_Glu1605delinsPheTer)
|
rs1566903995
|
|
NM_000138.4(FBN1):c.7491_7498delinsAGCAACACAACCAAACAACACAATG (p.Phe2498fs)
|
rs1566891846
|
|
NM_000138.5(FBN1):c.1148-2A>G
|
rs397515756
|
|
NM_000138.5(FBN1):c.1185dup (p.Pro396fs)
|
rs2043801575
|
|
NM_000138.5(FBN1):c.1211del (p.Pro404fs)
|
rs112289537
|
|
NM_000138.5(FBN1):c.1297G>T (p.Glu433Ter)
|
rs2141330884
|
|
NM_000138.5(FBN1):c.1377_1378del (p.Cys460fs)
|
rs1597581008
|
|
NM_000138.5(FBN1):c.1426T>C (p.Cys476Arg)
|
rs794728326
|
|
NM_000138.5(FBN1):c.1459G>T (p.Glu487Ter)
|
rs1555400374
|
|
NM_000138.5(FBN1):c.1511G>C (p.Cys504Ser)
|
rs1156747241
|
|
NM_000138.5(FBN1):c.1520del (p.Asn507fs)
|
|
|
NM_000138.5(FBN1):c.164+2T>A
|
rs727503058
|
|
NM_000138.5(FBN1):c.1669_1677dup (p.Cys557_Ala559dup)
|
rs193922181
|
|
NM_000138.5(FBN1):c.1709del (p.Cys570fs)
|
rs193922182
|
|
NM_000138.5(FBN1):c.1710T>A (p.Cys570Ter)
|
rs193922183
|
|
NM_000138.5(FBN1):c.1714+1G>T
|
rs2043745437
|
|
NM_000138.5(FBN1):c.1817C>A (p.Ser606Ter)
|
rs794728176
|
|
NM_000138.5(FBN1):c.1846G>A (p.Glu616Lys)
|
rs397515764
|
|
NM_000138.5(FBN1):c.1868G>T (p.Cys623Phe)
|
rs1566914030
|
|
NM_000138.5(FBN1):c.1888A>T (p.Asn630Tyr)
|
rs1555399821
|
|
NM_000138.5(FBN1):c.18_31dup (p.Leu11fs)
|
rs1890262867
|
|
NM_000138.5(FBN1):c.1916G>C (p.Cys639Ser)
|
rs878853676
|
|
NM_000138.5(FBN1):c.1948C>T (p.Arg650Cys)
|
rs193922185
|
|
NM_000138.5(FBN1):c.1961-1G>A
|
rs2043686634
|
|
NM_000138.5(FBN1):c.1A>C (p.Met1Leu)
|
rs730880097
|
|
NM_000138.5(FBN1):c.2096_2097del (p.Cys699fs)
|
rs1555399748
|
|
NM_000138.5(FBN1):c.2131T>C (p.Cys711Arg)
|
rs1555399481
|
|
NM_000138.5(FBN1):c.2186del (p.Leu729fs)
|
rs193922187
|
|
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.2242T>C (p.Cys748Arg)
|
rs397515765
|
|
NM_000138.5(FBN1):c.2306G>A (p.Cys769Tyr)
|
rs794728190
|
|
NM_000138.5(FBN1):c.2369G>C (p.Cys790Ser)
|
rs193922188
|
|
NM_000138.5(FBN1):c.2381dup (p.Phe796fs)
|
rs2141305022
|
|
NM_000138.5(FBN1):c.2479T>C (p.Ser827Pro)
|
rs193922189
|
|
NM_000138.5(FBN1):c.2542A>C (p.Thr848Pro)
|
rs193922191
|
|
NM_000138.5(FBN1):c.266G>C (p.Cys89Ser)
|
rs112660651
|
|
NM_000138.5(FBN1):c.2677G>C (p.Asp893His)
|
rs193922193
|
|
NM_000138.5(FBN1):c.2682del (p.Ile895fs)
|
rs193922194
|
|
NM_000138.5(FBN1):c.2800A>T (p.Lys934Ter)
|
|
|
NM_000138.5(FBN1):c.2837del (p.Thr946fs)
|
rs2043568185
|
|
NM_000138.5(FBN1):c.2855-1G>C
|
rs112202622
|
|
NM_000138.5(FBN1):c.2939G>T (p.Cys980Phe)
|
rs1555398816
|
|
NM_000138.5(FBN1):c.2953G>A (p.Gly985Arg)
|
rs794728199
|
|
NM_000138.5(FBN1):c.3024T>A (p.Cys1008Ter)
|
rs1057523654
|
|
NM_000138.5(FBN1):c.3140_3141del (p.Thr1047fs)
|
rs193922197
|
|
NM_000138.5(FBN1):c.3146G>A (p.Gly1049Asp)
|
rs1555398670
|
|
NM_000138.5(FBN1):c.3187dup (p.Ser1063fs)
|
rs1566909885
|
|
NM_000138.5(FBN1):c.3193del (p.Glu1065fs)
|
rs193922198
|
|
NM_000138.5(FBN1):c.3209A>G (p.Asp1070Gly)
|
rs1555398648
|
|
NM_000138.5(FBN1):c.3413G>C (p.Cys1138Ser)
|
rs397515791
|
|
NM_000138.5(FBN1):c.3478G>T (p.Glu1160Ter)
|
rs193922199
|
|
NM_000138.5(FBN1):c.3487_3488dup (p.Leu1165fs)
|
rs2043515102
|
|
NM_000138.5(FBN1):c.3513C>G (p.Cys1171Trp)
|
rs775417975
|
|
NM_000138.5(FBN1):c.385T>A (p.Cys129Ser)
|
rs199474693
|
|
NM_000138.5(FBN1):c.3915C>A (p.Cys1305Ter)
|
rs1555398152
|
|
NM_000138.5(FBN1):c.401G>A (p.Cys134Tyr)
|
rs1555405043
|
|
NM_000138.5(FBN1):c.4031G>A (p.Gly1344Glu)
|
rs1555397725
|
|
NM_000138.5(FBN1):c.4060del (p.Trp1354fs)
|
rs1555397707
|
|
NM_000138.5(FBN1):c.4155del (p.Ser1386fs)
|
rs2043402071
|
|
NM_000138.5(FBN1):c.4165T>G (p.Cys1389Gly)
|
rs193922203
|
|
NM_000138.5(FBN1):c.4190del (p.Gly1397fs)
|
rs2043401531
|
|
NM_000138.5(FBN1):c.441del (p.Gln147fs)
|
rs1555405028
|
|
NM_000138.5(FBN1):c.4467T>A (p.Asn1489Lys)
|
rs193922205
|
|
NM_000138.5(FBN1):c.4520G>A (p.Gly1507Asp)
|
rs794728225
|
|
NM_000138.5(FBN1):c.454A>T (p.Ser152Cys)
|
rs193922206
|
|
NM_000138.5(FBN1):c.4551del (p.Phe1517fs)
|
rs1555397201
|
|
NM_000138.5(FBN1):c.4562del (p.Pro1521fs)
|
rs886039035
|
|
NM_000138.5(FBN1):c.4607del (p.Leu1536fs)
|
rs1555397173
|
|
NM_000138.5(FBN1):c.4640_4641del (p.Thr1547fs)
|
rs1555397163
|
|
NM_000138.5(FBN1):c.4684T>A (p.Cys1562Ser)
|
rs193922207
|
|
NM_000138.5(FBN1):c.497G>A (p.Cys166Tyr)
|
rs397515818
|
|
NM_000138.5(FBN1):c.5014T>G (p.Cys1672Gly)
|
rs112930491
|
|
NM_000138.5(FBN1):c.5021G>C (p.Cys1674Ser)
|
|
|
NM_000138.5(FBN1):c.5089A>T (p.Arg1697Ter)
|
rs2141266739
|
|
NM_000138.5(FBN1):c.510C>G (p.Tyr170Ter)
|
rs111671429
|
|
NM_000138.5(FBN1):c.5309G>A (p.Cys1770Tyr)
|
rs2043241537
|
|
NM_000138.5(FBN1):c.539-2A>G
|
rs2141358521
|
|
NM_000138.5(FBN1):c.5417G>T (p.Cys1806Phe)
|
rs1555396418
|
|
NM_000138.5(FBN1):c.5422+2T>C
|
rs1555396417
|
|
NM_000138.5(FBN1):c.5431G>A (p.Glu1811Lys)
|
rs761857514
|
|
NM_000138.5(FBN1):c.5452T>C (p.Cys1818Arg)
|
|
|
NM_000138.5(FBN1):c.5512G>T (p.Gly1838Cys)
|
rs397515823
|
|
NM_000138.5(FBN1):c.5521_5528del (p.Phe1841fs)
|
rs193922212
|
|
NM_000138.5(FBN1):c.5540G>A (p.Cys1847Tyr)
|
rs1555396185
|
|
NM_000138.5(FBN1):c.5540G>C (p.Cys1847Ser)
|
rs1555396185
|
|
NM_000138.5(FBN1):c.5552A>G (p.Asn1851Ser)
|
rs193922214
|
|
NM_000138.5(FBN1):c.556T>C (p.Cys186Arg)
|
rs193922215
|
|
NM_000138.5(FBN1):c.5587G>A (p.Gly1863Arg)
|
rs1555395987
|
|
NM_000138.5(FBN1):c.5663del (p.Met1888fs)
|
rs1555395972
|
|
NM_000138.5(FBN1):c.5671+1del
|
rs2141252078
|
|
NM_000138.5(FBN1):c.5671G>C (p.Asp1891His)
|
rs193922216
|
|
NM_000138.5(FBN1):c.5743C>T (p.Arg1915Cys)
|
rs1555395826
|
|
NM_000138.5(FBN1):c.5824T>C (p.Cys1942Arg)
|
rs1555395762
|
|
NM_000138.5(FBN1):c.5874C>A (p.Cys1958Ter)
|
rs1555395750
|
|
NM_000138.5(FBN1):c.5885A>G (p.Tyr1962Cys)
|
rs1346043320
|
|
NM_000138.5(FBN1):c.5943del (p.Arg1982fs)
|
rs1555395661
|
|
NM_000138.5(FBN1):c.5951G>A (p.Cys1984Tyr)
|
rs1555395658
|
|
NM_000138.5(FBN1):c.6006_6012dup (p.Ser2005fs)
|
rs193922220
|
|
NM_000138.5(FBN1):c.626G>T (p.Cys209Phe)
|
rs1555401687
|
|
NM_000138.5(FBN1):c.6276G>A (p.Trp2092Ter)
|
rs1555395260
|
|
NM_000138.5(FBN1):c.6354C>G (p.Ile2118Met)
|
rs112989722
|
|
NM_000138.5(FBN1):c.6385G>T (p.Asp2129Tyr)
|
rs193922223
|
|
NM_000138.5(FBN1):c.649T>G (p.Trp217Gly)
|
rs193922224
|
|
NM_000138.5(FBN1):c.6553_6556dup (p.Gly2186fs)
|
rs193922225
|
|
NM_000138.5(FBN1):c.6704del (p.Gly2235fs)
|
rs193922226
|
|
NM_000138.5(FBN1):c.6793_6800dup (p.Leu2268fs)
|
rs193922227
|
|
NM_000138.5(FBN1):c.6824_6842del (p.Ile2275fs)
|
|
|
NM_000138.5(FBN1):c.7070_7071dup (p.Val2358fs)
|
rs1555394571
|
|
NM_000138.5(FBN1):c.7168T>C (p.Cys2390Arg)
|
rs397515847
|
|
NM_000138.5(FBN1):c.7229A>C (p.His2410Pro)
|
rs193922230
|
|
NM_000138.5(FBN1):c.7352dup (p.Pro2452fs)
|
|
|
NM_000138.5(FBN1):c.7387G>T (p.Glu2463Ter)
|
rs1566892735
|
|
NM_000138.5(FBN1):c.7432_7435del (p.Glu2478fs)
|
rs1057518012
|
|
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg)
|
rs363811
|
|
NM_000138.5(FBN1):c.7663G>A (p.Gly2555Arg)
|
rs1566891655
|
|
NM_000138.5(FBN1):c.7678del (p.Gln2560fs)
|
rs193922235
|
|
NM_000138.5(FBN1):c.7732C>T (p.Gln2578Ter)
|
rs765942432
|
|
NM_000138.5(FBN1):c.7785_7806dup (p.Asn2603fs)
|
|
|
NM_000138.5(FBN1):c.7806G>A (p.Trp2602Ter)
|
rs193922236
|
|
NM_000138.5(FBN1):c.7833C>A (p.Cys2611Ter)
|
|
|
NM_000138.5(FBN1):c.7879G>A (p.Gly2627Arg)
|
rs193922239
|
|
NM_000138.5(FBN1):c.7879G>C (p.Gly2627Arg)
|
rs193922239
|
|
NM_000138.5(FBN1):c.7898G>C (p.Cys2633Ser)
|
rs193922240
|
|
NM_000138.5(FBN1):c.8203del (p.Glu2735fs)
|
rs193922241
|
|
NM_000138.5(FBN1):c.8359_8360del (p.Leu2787fs)
|
rs1597506811
|
|
NM_000138.5(FBN1):c.8359_8360dup (p.Leu2787_Thr2788insTer)
|
rs1597506811
|
|
NM_000138.5(FBN1):c.8412_8417del (p.Lys2805_Ile2806del)
|
rs193922246
|
|
NM_000138.5(FBN1):c.863-2A>G
|
|
|
NM_000138.5(FBN1):c.945T>A (p.Cys315Ter)
|
rs2043912235
|
|