NM_000138.5(FBN1):c.3082+8del
|
rs193922196
|
0.00359
|
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr)
|
rs112287730
|
0.00107
|
NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp)
|
rs61746008
|
0.00070
|
NM_000138.5(FBN1):c.3422C>T (p.Pro1141Leu)
|
rs2228241
|
0.00054
|
NM_000138.5(FBN1):c.6038-37G>A
|
rs202137580
|
0.00051
|
NM_000138.5(FBN1):c.3058A>G (p.Thr1020Ala)
|
rs111801777
|
0.00029
|
NM_000138.5(FBN1):c.7852G>A (p.Gly2618Arg)
|
rs141133182
|
0.00019
|
NM_000138.5(FBN1):c.902G>T (p.Gly301Val)
|
rs142888621
|
0.00018
|
NM_000138.5(FBN1):c.1323A>G (p.Pro441=)
|
rs202030761
|
0.00011
|
NM_000138.5(FBN1):c.5297-19A>G
|
rs375665466
|
0.00008
|
NM_000138.5(FBN1):c.6038-15_6038-14del
|
rs752198920
|
0.00008
|
NM_000138.5(FBN1):c.7379A>G (p.Lys2460Arg)
|
rs144189837
|
0.00008
|
NM_000138.5(FBN1):c.2434G>A (p.Glu812Lys)
|
rs201778577
|
0.00006
|
NM_000138.5(FBN1):c.6302C>T (p.Thr2101Met)
|
rs200816828
|
0.00006
|
NM_000138.5(FBN1):c.6577G>A (p.Glu2193Lys)
|
rs201361628
|
0.00006
|
NM_000138.5(FBN1):c.7412C>G (p.Pro2471Arg)
|
rs193922233
|
0.00006
|
NM_000138.5(FBN1):c.8149G>A (p.Glu2717Lys)
|
rs187553035
|
0.00005
|
NM_000138.5(FBN1):c.3295G>A (p.Glu1099Lys)
|
rs763485521
|
0.00004
|
NM_000138.5(FBN1):c.5921T>C (p.Ile1974Thr)
|
rs765878996
|
0.00004
|
NM_000138.5(FBN1):c.8299A>G (p.Asn2767Asp)
|
rs771437236
|
0.00004
|
NM_000138.5(FBN1):c.3223C>T (p.Arg1075Cys)
|
rs186805359
|
0.00003
|
NM_000138.5(FBN1):c.5671+7A>G
|
rs751170564
|
0.00003
|
NM_000138.5(FBN1):c.6044A>T (p.Asp2015Val)
|
rs746719632
|
0.00003
|
NM_000138.5(FBN1):c.843A>C (p.Glu281Asp)
|
rs772218768
|
0.00003
|
NM_000138.5(FBN1):c.3937G>A (p.Gly1313Ser)
|
rs1156984408
|
0.00002
|
NM_000138.5(FBN1):c.5123G>A (p.Gly1708Glu)
|
rs758600004
|
0.00002
|
NM_000138.5(FBN1):c.5180G>A (p.Arg1727Gln)
|
rs780993677
|
0.00002
|
NM_000138.5(FBN1):c.6844C>T (p.Arg2282Trp)
|
rs765205164
|
0.00002
|
NM_000138.5(FBN1):c.1169C>T (p.Ser390Phe)
|
rs746385384
|
0.00001
|
NM_000138.5(FBN1):c.2294-19A>G
|
rs1353634853
|
0.00001
|
NM_000138.5(FBN1):c.3031G>A (p.Gly1011Arg)
|
rs1267721327
|
0.00001
|
NM_000138.5(FBN1):c.3740A>T (p.Asn1247Ile)
|
rs568625812
|
0.00001
|
NM_000138.5(FBN1):c.4046G>C (p.Ser1349Thr)
|
rs1373690375
|
0.00001
|
NM_000138.5(FBN1):c.5142G>A (p.Met1714Ile)
|
rs368287795
|
0.00001
|
NM_000138.5(FBN1):c.5512G>A (p.Gly1838Ser)
|
rs397515823
|
0.00001
|
NM_000138.5(FBN1):c.5771A>G (p.His1924Arg)
|
rs748230405
|
0.00001
|
NM_000138.5(FBN1):c.5776A>G (p.Asn1926Asp)
|
rs1060501097
|
0.00001
|
NM_000138.5(FBN1):c.6461C>G (p.Pro2154Arg)
|
rs756219617
|
0.00001
|
NM_000138.5(FBN1):c.6659G>A (p.Arg2220Gln)
|
rs780651466
|
0.00001
|
NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr)
|
rs193922228
|
0.00001
|
NM_000138.5(FBN1):c.6970G>A (p.Ala2324Thr)
|
rs148831709
|
0.00001
|
NM_000138.5(FBN1):c.776G>A (p.Gly259Glu)
|
rs751169871
|
0.00001
|
NM_000138.5(FBN1):c.7848C>G (p.Ile2616Met)
|
rs138184493
|
0.00001
|
NM_000138.5(FBN1):c.7903G>A (p.Ala2635Thr)
|
rs746859988
|
0.00001
|
NM_000138.5(FBN1):c.8177G>A (p.Arg2726Gln)
|
rs552157433
|
0.00001
|
NM_000138.5(FBN1):c.8326C>T (p.Arg2776Ter)
|
rs137854466
|
0.00001
|
NM_000138.5(FBN1):c.862+3A>G
|
rs1555401453
|
0.00001
|
NM_000138.5(FBN1):c.863A>G (p.Asp288Gly)
|
rs565078451
|
0.00001
|
NM_000138.4(FBN1):c.3232_3236delinsATCTC (p.Pro1078_Asp1079delinsIleSer)
|
rs1555398643
|
|
NM_000138.4(FBN1):c.8051delinsTT (p.Gly2684fs)
|
rs1555393824
|
|
NM_000138.5(FBN1):c.1175C>T (p.Pro392Leu)
|
rs534127494
|
|
NM_000138.5(FBN1):c.1328-9T>A
|
rs1209671382
|
|
NM_000138.5(FBN1):c.1468G>T (p.Asp490Tyr)
|
rs1555400371
|
|
NM_000138.5(FBN1):c.1556A>G (p.Tyr519Cys)
|
rs1555400278
|
|
NM_000138.5(FBN1):c.1589-5T>C
|
rs1371798538
|
|
NM_000138.5(FBN1):c.1589A>G (p.Asp530Gly)
|
rs794728171
|
|
NM_000138.5(FBN1):c.1766A>G (p.Asn589Ser)
|
rs1555399962
|
|
NM_000138.5(FBN1):c.1805T>C (p.Phe602Ser)
|
rs1555399952
|
|
NM_000138.5(FBN1):c.1837+5G>A
|
rs1445085747
|
|
NM_000138.5(FBN1):c.1928T>G (p.Leu643Arg)
|
rs1555399813
|
|
NM_000138.5(FBN1):c.206_208del (p.Pro69_Gly70delinsArg)
|
rs1555405660
|
|
NM_000138.5(FBN1):c.2258G>T (p.Gly753Val)
|
rs1555399365
|
|
NM_000138.5(FBN1):c.2426A>G (p.Asp809Gly)
|
rs1555399211
|
|
NM_000138.5(FBN1):c.2477G>A (p.Gly826Asp)
|
rs1555399200
|
|
NM_000138.5(FBN1):c.2559C>G (p.Cys853Trp)
|
rs111981744
|
|
NM_000138.5(FBN1):c.2657C>T (p.Pro886Leu)
|
rs1060501083
|
|
NM_000138.5(FBN1):c.2677G>A (p.Asp893Asn)
|
rs193922193
|
|
NM_000138.5(FBN1):c.2678-6T>G
|
rs1555399102
|
|
NM_000138.5(FBN1):c.2723G>T (p.Cys908Phe)
|
rs1057523406
|
|
NM_000138.5(FBN1):c.2792G>T (p.Gly931Val)
|
rs200078617
|
|
NM_000138.5(FBN1):c.2813C>T (p.Pro938Leu)
|
rs758257941
|
|
NM_000138.5(FBN1):c.3037G>A (p.Gly1013Arg)
|
rs140593
|
|
NM_000138.5(FBN1):c.3081A>T (p.Lys1027Asn)
|
rs1555398771
|
|
NM_000138.5(FBN1):c.3082+9T>G
|
rs746303949
|
|
NM_000138.5(FBN1):c.3152T>C (p.Phe1051Ser)
|
rs1555398668
|
|
NM_000138.5(FBN1):c.3208+5G>A
|
rs1555398657
|
|
NM_000138.5(FBN1):c.3209-7T>A
|
rs1459153455
|
|
NM_000138.5(FBN1):c.3212T>G (p.Ile1071Ser)
|
rs1555398647
|
|
NM_000138.5(FBN1):c.3263A>G (p.Asn1088Ser)
|
rs1555398635
|
|
NM_000138.5(FBN1):c.32T>A (p.Leu11Gln)
|
rs1555407429
|
|
NM_000138.5(FBN1):c.32T>G (p.Leu11Arg)
|
rs1555407429
|
|
NM_000138.5(FBN1):c.3382G>C (p.Val1128Leu)
|
rs1555398573
|
|
NM_000138.5(FBN1):c.3464-16_3464-14del
|
rs775944757
|
|
NM_000138.5(FBN1):c.3554G>A (p.Gly1185Asp)
|
rs1555398512
|
|
NM_000138.5(FBN1):c.3650G>A (p.Gly1217Asp)
|
rs1555398397
|
|
NM_000138.5(FBN1):c.372G>A (p.Met124Ile)
|
rs1555405050
|
|
NM_000138.5(FBN1):c.3748G>T (p.Asp1250Tyr)
|
rs1555398288
|
|
NM_000138.5(FBN1):c.3815C>A (p.Ser1272Tyr)
|
rs1555398270
|
|
NM_000138.5(FBN1):c.3838+3A>T
|
rs1555398265
|
|
NM_000138.5(FBN1):c.4009G>C (p.Ala1337Pro)
|
rs753648789
|
|
NM_000138.5(FBN1):c.4125C>G (p.Ser1375Arg)
|
rs1555397666
|
|
NM_000138.5(FBN1):c.4183T>C (p.Tyr1395His)
|
rs1555397653
|
|
NM_000138.5(FBN1):c.4210+11G>A
|
rs148057138
|
|
NM_000138.5(FBN1):c.425G>A (p.Gly142Glu)
|
rs1555405036
|
|
NM_000138.5(FBN1):c.4347G>T (p.Glu1449Asp)
|
rs1555397423
|
|
NM_000138.5(FBN1):c.4389C>A (p.Asn1463Lys)
|
rs1555397412
|
|
NM_000138.5(FBN1):c.4460A>C (p.Asp1487Ala)
|
rs1555397216
|
|
NM_000138.5(FBN1):c.4467T>A (p.Asn1489Lys)
|
rs193922205
|
|
NM_000138.5(FBN1):c.4468G>A (p.Glu1490Lys)
|
rs1060501076
|
|
NM_000138.5(FBN1):c.4511A>G (p.Asn1504Ser)
|
rs1555397209
|
|
NM_000138.5(FBN1):c.4582+5G>C
|
rs140633
|
|
NM_000138.5(FBN1):c.4748-3T>G
|
rs770762644
|
|
NM_000138.5(FBN1):c.4787G>C (p.Arg1596Pro)
|
rs769588424
|
|
NM_000138.5(FBN1):c.4795C>A (p.Pro1599Thr)
|
rs1555397018
|
|
NM_000138.5(FBN1):c.5073AAG[1] (p.Arg1692del)
|
rs1555396789
|
|
NM_000138.5(FBN1):c.5587G>A (p.Gly1863Arg)
|
rs1555395987
|
|
NM_000138.5(FBN1):c.5722A>C (p.Thr1908Pro)
|
rs1555395834
|
|
NM_000138.5(FBN1):c.5726T>C (p.Ile1909Thr)
|
rs794728333
|
|
NM_000138.5(FBN1):c.5735T>C (p.Phe1912Ser)
|
rs1555395830
|
|
NM_000138.5(FBN1):c.5743C>A (p.Arg1915Ser)
|
rs1555395826
|
|
NM_000138.5(FBN1):c.5743C>T (p.Arg1915Cys)
|
rs1555395826
|
|
NM_000138.5(FBN1):c.5788+36C>A
|
rs1555395814
|
|
NM_000138.5(FBN1):c.5788+4C>A
|
rs577301285
|
|
NM_000138.5(FBN1):c.5788+5G>T
|
rs193922219
|
|
NM_000138.5(FBN1):c.5795A>C (p.Asp1932Ala)
|
rs1329934461
|
|
NM_000138.5(FBN1):c.5834G>A (p.Gly1945Asp)
|
rs1555395760
|
|
NM_000138.5(FBN1):c.5917+3A>C
|
rs202158568
|
|
NM_000138.5(FBN1):c.5917+5G>T
|
rs1555395743
|
|
NM_000138.5(FBN1):c.5927A>G (p.Glu1976Gly)
|
rs1555395665
|
|
NM_000138.5(FBN1):c.5983T>C (p.Ser1995Pro)
|
rs1555395649
|
|
NM_000138.5(FBN1):c.640G>A (p.Gly214Ser)
|
rs794728162
|
|
NM_000138.5(FBN1):c.6453C>T (p.Cys2151=)
|
rs794728251
|
|
NM_000138.5(FBN1):c.6496+5G>C
|
rs1555395186
|
|
NM_000138.5(FBN1):c.6496G>A (p.Asp2166Asn)
|
rs794728252
|
|
NM_000138.5(FBN1):c.6554T>C (p.Ile2185Thr)
|
rs910656654
|
|
NM_000138.5(FBN1):c.6554T>G (p.Ile2185Ser)
|
rs910656654
|
|
NM_000138.5(FBN1):c.6583G>A (p.Gly2195Arg)
|
rs886038976
|
|
NM_000138.5(FBN1):c.6667A>C (p.Asn2223His)
|
rs1555394919
|
|
NM_000138.5(FBN1):c.6678_6680del (p.Ser2227del)
|
rs1555394913
|
|
NM_000138.5(FBN1):c.6697C>T (p.Pro2233Ser)
|
rs794728255
|
|
NM_000138.5(FBN1):c.6740A>G (p.Asp2247Gly)
|
rs1060501032
|
|
NM_000138.5(FBN1):c.6872-14A>G
|
rs1064793119
|
|
NM_000138.5(FBN1):c.7003C>T (p.Arg2335Trp)
|
rs794728262
|
|
NM_000138.5(FBN1):c.701G>A (p.Gly234Asp)
|
rs1555401670
|
|
NM_000138.5(FBN1):c.7042T>C (p.Cys2348Arg)
|
rs1555394576
|
|
NM_000138.5(FBN1):c.7184G>T (p.Gly2395Val)
|
rs397515849
|
|
NM_000138.5(FBN1):c.7201G>T (p.Ala2401Ser)
|
rs771260695
|
|
NM_000138.5(FBN1):c.7208T>A (p.Ile2403Asn)
|
rs1555394449
|
|
NM_000138.5(FBN1):c.7247G>T (p.Gly2416Val)
|
rs1555394442
|
|
NM_000138.5(FBN1):c.7330G>T (p.Asp2444Tyr)
|
rs1555394434
|
|
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.7699+5G>A
|
rs1555394187
|
|
NM_000138.5(FBN1):c.7726C>T (p.Arg2576Cys)
|
rs147195031
|
|
NM_000138.5(FBN1):c.7817_7819del (p.Val2606del)
|
rs1555394136
|
|
NM_000138.5(FBN1):c.7819+3A>C
|
rs1555394135
|
|
NM_000138.5(FBN1):c.7819+4A>G
|
rs794728278
|
|
NM_000138.5(FBN1):c.7871A>G (p.Asn2624Ser)
|
rs113935744
|
|
NM_000138.5(FBN1):c.7879G>C (p.Gly2627Arg)
|
rs193922239
|
|
NM_000138.5(FBN1):c.7880G>T (p.Gly2627Val)
|
rs1555393875
|
|
NM_000138.5(FBN1):c.7972C>G (p.Pro2658Ala)
|
rs1555393851
|
|
NM_000138.5(FBN1):c.7980C>G (p.Ser2660Arg)
|
rs1060501030
|
|
NM_000138.5(FBN1):c.8002G>T (p.Gly2668Cys)
|
rs1057521100
|
|
NM_000138.5(FBN1):c.8069T>C (p.Met2690Thr)
|
rs747476726
|
|
NM_000138.5(FBN1):c.8188C>T (p.Arg2730Trp)
|
rs1371152380
|
|
NM_000138.5(FBN1):c.8312dup (p.Ser2772fs)
|
rs1555393560
|
|
NM_000138.5(FBN1):c.8330T>C (p.Ile2777Thr)
|
rs1555393556
|
|
NM_000138.5(FBN1):c.8377T>C (p.Tyr2793His)
|
rs113722038
|
|
NM_000138.5(FBN1):c.8396del (p.Asn2799fs)
|
rs1555393540
|
|
NM_000138.5(FBN1):c.8416dup (p.Ile2806fs)
|
rs1555393538
|
|
NM_000138.5(FBN1):c.8428del (p.Glu2810fs)
|
rs1555393535
|
|
NM_000138.5(FBN1):c.8447A>C (p.His2816Pro)
|
rs1555393532
|
|
NM_000138.5(FBN1):c.8477C>G (p.Thr2826Ser)
|
rs748384979
|
|
NM_000138.5(FBN1):c.8488C>T (p.Gln2830Ter)
|
rs886038795
|
|
NM_000138.5(FBN1):c.8516dup (p.Lys2840fs)
|
rs1555393514
|
|
NM_000138.5(FBN1):c.8525_8529del (p.Leu2842fs)
|
rs1064794130
|
|
NM_000138.5(FBN1):c.860A>G (p.Glu287Gly)
|
rs1555401454
|
|
NM_000138.5(FBN1):c.939C>G (p.Cys313Trp)
|
rs1555401007
|
|