NM_000138.5(FBN1):c.1875T>C (p.Asn625=)
|
rs25458
|
0.25074
|
NM_000138.5(FBN1):c.3464-5G>A
|
rs11853943
|
0.16287
|
NM_000138.5(FBN1):c.156G>T (p.Ala52=)
|
rs25398
|
0.06859
|
NM_000138.5(FBN1):c.6855T>C (p.Asp2285=)
|
rs363836
|
0.02755
|
NM_000138.5(FBN1):c.6888G>A (p.Gln2296=)
|
rs363830
|
0.02418
|
NM_000138.5(FBN1):c.7819+8A>C
|
rs363838
|
0.02324
|
NM_000138.5(FBN1):c.3082+6A>G
|
rs79321504
|
0.01406
|
NM_000138.5(FBN1):c.3442C>G (p.Pro1148Ala)
|
rs140598
|
0.01315
|
NM_000138.5(FBN1):c.3294C>T (p.Asp1098=)
|
rs140587
|
0.01051
|
NM_000138.5(FBN1):c.3965-8T>C
|
rs140637
|
0.00859
|
NM_000138.5(FBN1):c.986T>C (p.Ile329Thr)
|
rs12324002
|
0.00737
|
NM_000138.5(FBN1):c.5343G>A (p.Val1781=)
|
rs140649
|
0.00561
|
NM_000138.5(FBN1):c.2855-9C>T
|
rs140590
|
0.00556
|
NM_000138.5(FBN1):c.6393C>T (p.Cys2131=)
|
rs61730051
|
0.00522
|
NM_000138.5(FBN1):c.6594C>T (p.Pro2198=)
|
rs111844882
|
0.00439
|
NM_000138.5(FBN1):c.1746C>T (p.Cys582=)
|
rs112366266
|
0.00436
|
NM_000138.5(FBN1):c.3675G>A (p.Pro1225=)
|
rs148147223
|
0.00436
|
NM_000138.5(FBN1):c.4905C>G (p.Thr1635=)
|
rs113115949
|
0.00435
|
NM_000138.5(FBN1):c.306C>T (p.Cys102=)
|
rs25388
|
0.00372
|
NM_000138.5(FBN1):c.3082+8del
|
rs193922196
|
0.00359
|
NM_000138.5(FBN1):c.2678-15C>T
|
rs181681840
|
0.00324
|
NM_000138.5(FBN1):c.8283A>T (p.Thr2761=)
|
rs146120912
|
0.00314
|
NM_000138.5(FBN1):c.7497A>G (p.Leu2499=)
|
rs148516442
|
0.00268
|
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His)
|
rs137854475
|
0.00168
|
NM_000138.5(FBN1):c.8502T>C (p.Thr2834=)
|
rs363847
|
0.00148
|
NM_000138.5(FBN1):c.3463+3A>G
|
rs80344206
|
0.00128
|
NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly)
|
rs61730054
|
0.00113
|
NM_000138.5(FBN1):c.7950T>C (p.Asn2650=)
|
rs143055643
|
0.00113
|
NM_000138.5(FBN1):c.6681A>C (p.Ser2227=)
|
rs363824
|
0.00109
|
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr)
|
rs112287730
|
0.00107
|
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met)
|
rs112084407
|
0.00078
|
NM_000138.5(FBN1):c.510C>T (p.Tyr170=)
|
rs111671429
|
0.00076
|
NM_000138.5(FBN1):c.3422C>T (p.Pro1141Leu)
|
rs2228241
|
0.00054
|
NM_000138.5(FBN1):c.8385C>T (p.Ile2795=)
|
rs138574576
|
0.00054
|
NM_000138.5(FBN1):c.4683C>T (p.Ser1561=)
|
rs148024160
|
0.00053
|
NM_000138.5(FBN1):c.7346A>G (p.Asn2449Ser)
|
rs146166400
|
0.00049
|
NM_000138.5(FBN1):c.5065+10A>G
|
rs375945405
|
0.00048
|
NM_000138.5(FBN1):c.7098C>T (p.Asp2366=)
|
rs1005074
|
0.00044
|
NM_000138.5(FBN1):c.2895G>A (p.Glu965=)
|
rs140591
|
0.00038
|
NM_000138.5(FBN1):c.5788+10C>A
|
rs371560107
|
0.00032
|
NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile)
|
rs183306990
|
0.00030
|
NM_000138.5(FBN1):c.2175T>C (p.Asn725=)
|
rs140606
|
0.00029
|
NM_000138.5(FBN1):c.3058A>G (p.Thr1020Ala)
|
rs111801777
|
0.00029
|
NM_000138.5(FBN1):c.4750G>A (p.Glu1584Lys)
|
rs148888513
|
0.00029
|
NM_000138.5(FBN1):c.2187A>C (p.Leu729=)
|
rs61730055
|
0.00026
|
NM_000138.5(FBN1):c.6314-15G>A
|
rs200841830
|
0.00023
|
NM_000138.5(FBN1):c.7852G>A (p.Gly2618Arg)
|
rs141133182
|
0.00019
|
NM_000138.5(FBN1):c.4727T>C (p.Met1576Thr)
|
rs776625874
|
0.00018
|
NM_000138.5(FBN1):c.902G>T (p.Gly301Val)
|
rs142888621
|
0.00018
|
NM_000138.5(FBN1):c.3514G>A (p.Val1172Met)
|
rs200125037
|
0.00017
|
NM_000138.5(FBN1):c.3423G>A (p.Pro1141=)
|
rs140396599
|
0.00015
|
NM_000138.5(FBN1):c.1571C>T (p.Thr524Met)
|
rs370575495
|
0.00014
|
NM_000138.5(FBN1):c.4001G>A (p.Gly1334Asp)
|
rs191989961
|
0.00014
|
NM_000138.5(FBN1):c.6288C>T (p.Cys2096=)
|
rs144822241
|
0.00014
|
NM_000138.5(FBN1):c.7661G>A (p.Arg2554Gln)
|
rs199522781
|
0.00014
|
NM_000138.5(FBN1):c.185G>A (p.Arg62His)
|
rs145942328
|
0.00012
|
NM_000138.5(FBN1):c.1345G>A (p.Val449Ile)
|
rs139058991
|
0.00009
|
NM_000138.5(FBN1):c.7379A>G (p.Lys2460Arg)
|
rs144189837
|
0.00008
|
NM_000138.5(FBN1):c.6372A>G (p.Ser2124=)
|
rs397515832
|
0.00007
|
NM_000138.5(FBN1):c.6834C>T (p.Pro2278=)
|
rs397515839
|
0.00006
|
NM_000138.5(FBN1):c.7999G>A (p.Glu2667Lys)
|
rs149062442
|
0.00006
|
NM_000138.5(FBN1):c.8071G>A (p.Gly2691Ser)
|
rs145105768
|
0.00006
|
NM_000138.5(FBN1):c.247+10T>C
|
rs367618012
|
0.00005
|
NM_000138.5(FBN1):c.2927G>A (p.Arg976His)
|
rs140954477
|
0.00005
|
NM_000138.5(FBN1):c.3503A>G (p.Asn1168Ser)
|
rs776667707
|
0.00004
|
NM_000138.5(FBN1):c.5442C>T (p.Asn1814=)
|
rs397515822
|
0.00004
|
NM_000138.5(FBN1):c.164+5A>G
|
rs397515760
|
0.00003
|
NM_000138.5(FBN1):c.378A>G (p.Gly126=)
|
rs149611106
|
0.00003
|
NM_000138.5(FBN1):c.8219A>G (p.Asn2740Ser)
|
rs193922242
|
0.00003
|
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)
|
rs727503054
|
0.00002
|
NM_000138.5(FBN1):c.165-7G>A
|
rs397515761
|
0.00001
|
NM_000138.5(FBN1):c.1676C>T (p.Ala559Val)
|
rs141551765
|
0.00001
|
NM_000138.5(FBN1):c.1844A>G (p.Asn615Ser)
|
rs397515763
|
0.00001
|
NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys)
|
rs727503057
|
0.00001
|
NM_000138.5(FBN1):c.2188G>A (p.Asp730Asn)
|
rs199625633
|
0.00001
|
NM_000138.5(FBN1):c.3209-3C>A
|
rs397515787
|
0.00001
|
NM_000138.5(FBN1):c.3560A>G (p.His1187Arg)
|
rs193922200
|
0.00001
|
NM_000138.5(FBN1):c.370A>G (p.Met124Val)
|
rs764224168
|
0.00001
|
NM_000138.5(FBN1):c.4106A>G (p.Asn1369Ser)
|
rs370923981
|
0.00001
|
NM_000138.5(FBN1):c.4707C>G (p.Ala1569=)
|
rs397515813
|
0.00001
|
NM_000138.5(FBN1):c.5509C>T (p.Pro1837Ser)
|
rs755430984
|
0.00001
|
NM_000138.5(FBN1):c.5788+5G>A
|
rs193922219
|
0.00001
|
NM_000138.5(FBN1):c.5856G>A (p.Gly1952=)
|
rs763490270
|
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.7071C>T (p.Pro2357=)
|
rs397515843
|
0.00001
|
NM_000138.5(FBN1):c.7082C>T (p.Ser2361Leu)
|
rs397515844
|
0.00001
|
NM_000138.5(FBN1):c.8218A>G (p.Asn2740Asp)
|
rs397515860
|
0.00001
|
NM_000138.5(FBN1):c.8543A>C (p.Lys2848Thr)
|
rs765839151
|
0.00001
|
NM_000138.4(FBN1):c.(?_4473)_(8280_?)del
|
|
|
NM_000138.4(FBN1):c.(?_5475)_(5542_?)del
|
|
|
NM_000138.5(FBN1):c.1148-2A>G
|
rs397515756
|
|
NM_000138.5(FBN1):c.1192A>T (p.Arg398Ter)
|
rs397515754
|
|
NM_000138.5(FBN1):c.1335dup (p.Pro446fs)
|
rs730880356
|
|
NM_000138.5(FBN1):c.1415= (p.Tyr472=)
|
rs113936729
|
|
NM_000138.5(FBN1):c.1453C>T (p.Arg485Cys)
|
rs137854485
|
|
NM_000138.5(FBN1):c.1468+5G>A
|
rs397515757
|
|
NM_000138.5(FBN1):c.1546C>T (p.Arg516Ter)
|
rs113812345
|
|
NM_000138.5(FBN1):c.1561_1562del (p.Ser521fs)
|
rs397515758
|
|
NM_000138.5(FBN1):c.1601G>A (p.Cys534Tyr)
|
rs397515759
|
|
NM_000138.5(FBN1):c.164+2T>C
|
rs727503058
|
|
NM_000138.5(FBN1):c.1714+2del
|
rs876657645
|
|
NM_000138.5(FBN1):c.1837+1G>T
|
rs397515762
|
|
NM_000138.5(FBN1):c.1846G>A (p.Glu616Lys)
|
rs397515764
|
|
NM_000138.5(FBN1):c.184C>T (p.Arg62Cys)
|
rs25403
|
|
NM_000138.5(FBN1):c.1948dup (p.Arg650fs)
|
rs1566913982
|
|
NM_000138.5(FBN1):c.2055C>G (p.Cys685Trp)
|
rs140603
|
|
NM_000138.5(FBN1):c.2242T>C (p.Cys748Arg)
|
rs397515765
|
|
NM_000138.5(FBN1):c.2341T>C (p.Cys781Arg)
|
rs397515766
|
|
NM_000138.5(FBN1):c.239G>A (p.Cys80Tyr)
|
rs397515767
|
|
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.2447G>C (p.Cys816Ser)
|
rs397515770
|
|
NM_000138.5(FBN1):c.2448C>G (p.Cys816Trp)
|
rs397515771
|
|
NM_000138.5(FBN1):c.247+1G>A
|
rs25404
|
|
NM_000138.5(FBN1):c.247+2dup
|
rs397515772
|
|
NM_000138.5(FBN1):c.2488T>G (p.Cys830Gly)
|
rs397515773
|
|
NM_000138.5(FBN1):c.2489G>C (p.Cys830Ser)
|
rs397515774
|
|
NM_000138.5(FBN1):c.2495G>A (p.Cys832Tyr)
|
rs397515775
|
|
NM_000138.5(FBN1):c.2496T>G (p.Cys832Trp)
|
rs397515776
|
|
NM_000138.5(FBN1):c.2519C>T (p.Pro840Leu)
|
rs397515777
|
|
NM_000138.5(FBN1):c.2537T>C (p.Ile846Thr)
|
rs876657809
|
|
NM_000138.5(FBN1):c.268_269delinsC (p.Gly90fs)
|
rs397515778
|
|
NM_000138.5(FBN1):c.2691dup (p.Lys898Ter)
|
rs397515779
|
|
NM_000138.5(FBN1):c.2743G>A (p.Glu915Lys)
|
rs746834413
|
|
NM_000138.5(FBN1):c.2757A>G (p.Gly919=)
|
rs397515780
|
|
NM_000138.5(FBN1):c.2833del (p.Ala945fs)
|
rs397515781
|
|
NM_000138.5(FBN1):c.2855-1G>A
|
rs112202622
|
|
NM_000138.5(FBN1):c.2942G>C (p.Cys981Ser)
|
rs727505110
|
|
NM_000138.5(FBN1):c.299G>A (p.Cys100Tyr)
|
rs397515782
|
|
NM_000138.5(FBN1):c.299G>T (p.Cys100Phe)
|
rs397515782
|
|
NM_000138.5(FBN1):c.300C>T (p.Cys100=)
|
rs397515783
|
|
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.3164G>A (p.Cys1055Tyr)
|
rs397515786
|
|
NM_000138.5(FBN1):c.3193del (p.Glu1065fs)
|
rs193922198
|
|
NM_000138.5(FBN1):c.3274del (p.Asp1092fs)
|
rs397515788
|
|
NM_000138.5(FBN1):c.3337+1G>A
|
rs397515789
|
|
NM_000138.5(FBN1):c.3373C>T (p.Arg1125Ter)
|
rs727505006
|
|
NM_000138.5(FBN1):c.3392A>G (p.Asn1131Ser)
|
rs397515790
|
|
NM_000138.5(FBN1):c.3413G>A (p.Cys1138Tyr)
|
rs397515791
|
|
NM_000138.5(FBN1):c.3413G>T (p.Cys1138Phe)
|
rs397515791
|
|
NM_000138.5(FBN1):c.3463+1G>T
|
rs397515792
|
|
NM_000138.5(FBN1):c.3546C>A (p.Cys1182Ter)
|
rs727504411
|
|
NM_000138.5(FBN1):c.3589G>A (p.Asp1197Asn)
|
rs397515793
|
|
NM_000138.5(FBN1):c.3589G>C (p.Asp1197His)
|
rs397515793
|
|
NM_000138.5(FBN1):c.3656A>G (p.Tyr1219Cys)
|
rs1555398394
|
|
NM_000138.5(FBN1):c.368G>A (p.Cys123Tyr)
|
rs397515794
|
|
NM_000138.5(FBN1):c.3772C>T (p.Pro1258Ser)
|
rs397515795
|
|
NM_000138.5(FBN1):c.3848A>C (p.Glu1283Ala)
|
rs397515796
|
|
NM_000138.5(FBN1):c.3886T>C (p.Cys1296Arg)
|
rs397515797
|
|
NM_000138.5(FBN1):c.4016G>C (p.Cys1339Ser)
|
rs397515798
|
|
NM_000138.5(FBN1):c.4048T>A (p.Cys1350Ser)
|
rs397515799
|
|
NM_000138.5(FBN1):c.415G>C (p.Gly139Arg)
|
rs397515800
|
|
NM_000138.5(FBN1):c.4160A>G (p.Tyr1387Cys)
|
rs397515801
|
|
NM_000138.5(FBN1):c.4168_4171del (p.Leu1390fs)
|
rs1555397655
|
|
NM_000138.5(FBN1):c.4202C>A (p.Thr1401Asn)
|
rs1555397648
|
|
NM_000138.5(FBN1):c.4337A>T (p.Asp1446Val)
|
rs397515806
|
|
NM_000138.5(FBN1):c.4364T>G (p.Ile1455Ser)
|
rs397515807
|
|
NM_000138.5(FBN1):c.4367G>A (p.Cys1456Tyr)
|
rs397515805
|
|
NM_000138.5(FBN1):c.4367G>C (p.Cys1456Ser)
|
rs397515805
|
|
NM_000138.5(FBN1):c.4406G>C (p.Arg1469Pro)
|
rs397515808
|
|
NM_000138.5(FBN1):c.4459+3A>T
|
rs397515809
|
|
NM_000138.5(FBN1):c.4467T>A (p.Asn1489Lys)
|
rs193922205
|
|
NM_000138.5(FBN1):c.4505G>A (p.Cys1502Tyr)
|
rs397515810
|
|
NM_000138.5(FBN1):c.4531T>C (p.Cys1511Arg)
|
rs397515811
|
|
NM_000138.5(FBN1):c.4567C>T (p.Arg1523Ter)
|
rs397515812
|
|
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.4675_4718del (p.Lys1559fs)
|
rs727503056
|
|
NM_000138.5(FBN1):c.4781G>A (p.Gly1594Asp)
|
rs267606798
|
|
NM_000138.5(FBN1):c.4786C>T (p.Arg1596Ter)
|
rs113871094
|
|
NM_000138.5(FBN1):c.4937G>A (p.Cys1646Tyr)
|
rs397515814
|
|
NM_000138.5(FBN1):c.493C>T (p.Arg165Ter)
|
rs113905529
|
|
NM_000138.5(FBN1):c.4942+4A>G
|
rs397515815
|
|
NM_000138.5(FBN1):c.4942G>A (p.Asp1648Asn)
|
rs397515816
|
|
NM_000138.5(FBN1):c.4955G>A (p.Cys1652Tyr)
|
rs397515817
|
|
NM_000138.5(FBN1):c.497G>C (p.Cys166Ser)
|
rs397515818
|
|
NM_000138.5(FBN1):c.5066-14dup
|
rs3833018
|
|
NM_000138.5(FBN1):c.5066-1G>C
|
rs397515819
|
|
NM_000138.5(FBN1):c.5066del (p.Asp1689fs)
|
rs727504347
|
|
NM_000138.5(FBN1):c.5225-3C>A
|
rs876657810
|
|
NM_000138.5(FBN1):c.5251C>T (p.Gln1751Ter)
|
rs397515820
|
|
NM_000138.5(FBN1):c.529T>C (p.Cys177Arg)
|
rs363853
|
|
NM_000138.5(FBN1):c.5368C>T (p.Arg1790Ter)
|
rs113249837
|
|
NM_000138.5(FBN1):c.5437C>T (p.Gln1813Ter)
|
rs397515821
|
|
NM_000138.5(FBN1):c.5504G>A (p.Cys1835Tyr)
|
rs111929350
|
|
NM_000138.5(FBN1):c.5512G>T (p.Gly1838Cys)
|
rs397515823
|
|
NM_000138.5(FBN1):c.5588G>A (p.Gly1863Glu)
|
rs113086760
|
|
NM_000138.5(FBN1):c.561del (p.Phe187fs)
|
rs397515825
|
|
NM_000138.5(FBN1):c.5719A>G (p.Asn1907Asp)
|
rs397515824
|
|
NM_000138.5(FBN1):c.5721C>G (p.Asn1907Lys)
|
rs397515826
|
|
NM_000138.5(FBN1):c.5747G>A (p.Cys1916Tyr)
|
rs397515827
|
|
NM_000138.5(FBN1):c.5840G>A (p.Cys1947Tyr)
|
rs397515828
|
|
NM_000138.5(FBN1):c.5861del (p.Phe1954fs)
|
rs1555395756
|
|
NM_000138.5(FBN1):c.5863C>T (p.Gln1955Ter)
|
rs363807
|
|
NM_000138.5(FBN1):c.5869C>T (p.Gln1957Ter)
|
rs397515829
|
|
NM_000138.5(FBN1):c.5888del (p.Glu1963fs)
|
rs727504315
|
|
NM_000138.5(FBN1):c.5959G>C (p.Gly1987Arg)
|
rs727504642
|
|
NM_000138.5(FBN1):c.6119G>A (p.Cys2040Tyr)
|
rs397515830
|
|
NM_000138.5(FBN1):c.6289G>T (p.Glu2097Ter)
|
rs397515831
|
|
NM_000138.5(FBN1):c.6354C>G (p.Ile2118Met)
|
rs112989722
|
|
NM_000138.5(FBN1):c.6379+1G>A
|
rs397515833
|
|
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.6509G>A (p.Cys2170Tyr)
|
rs363821
|
|
NM_000138.5(FBN1):c.6515_6516delinsG (p.Val2172fs)
|
rs397515834
|
|
NM_000138.5(FBN1):c.660del (p.Cys221fs)
|
rs727505269
|
|
NM_000138.5(FBN1):c.6617-9_6617-8inv
|
|
|
NM_000138.5(FBN1):c.6630T>G (p.Cys2210Trp)
|
rs397515836
|
|
NM_000138.5(FBN1):c.6656T>C (p.Phe2219Ser)
|
rs397515837
|
|
NM_000138.5(FBN1):c.6658C>T (p.Arg2220Ter)
|
rs113001196
|
|
NM_000138.5(FBN1):c.6690C>G (p.Cys2230Trp)
|
rs727504931
|
|
NM_000138.5(FBN1):c.6746A>G (p.Asp2249Gly)
|
rs397515838
|
|
NM_000138.5(FBN1):c.6832C>T (p.Pro2278Ser)
|
rs363835
|
|
NM_000138.5(FBN1):c.6841C>T (p.Gln2281Ter)
|
rs397515840
|
|
NM_000138.5(FBN1):c.6886C>T (p.Gln2296Ter)
|
rs727504410
|
|
NM_000138.5(FBN1):c.6920G>A (p.Cys2307Tyr)
|
rs137854457
|
|
NM_000138.5(FBN1):c.697C>T (p.Arg233Cys)
|
rs397515841
|
|
NM_000138.5(FBN1):c.6992G>A (p.Cys2331Tyr)
|
rs397515842
|
|
NM_000138.5(FBN1):c.6997+4A>G
|
rs727503055
|
|
NM_000138.5(FBN1):c.7016G>A (p.Cys2339Tyr)
|
rs1555394580
|
|
NM_000138.5(FBN1):c.7094G>A (p.Cys2365Tyr)
|
rs397515845
|
|
NM_000138.5(FBN1):c.7167_7168del (p.Cys2390fs)
|
rs397515846
|
|
NM_000138.5(FBN1):c.7168T>C (p.Cys2390Arg)
|
rs397515847
|
|
NM_000138.5(FBN1):c.7180C>T (p.Arg2394Ter)
|
rs397515848
|
|
NM_000138.5(FBN1):c.7184G>T (p.Gly2395Val)
|
rs397515849
|
|
NM_000138.5(FBN1):c.718C>T (p.Arg240Cys)
|
rs137854480
|
|
NM_000138.5(FBN1):c.7203A>G (p.Ala2401=)
|
rs397515850
|
|
NM_000138.5(FBN1):c.7217_7226delinsTACAGA (p.Cys2406fs)
|
rs1597516501
|
|
NM_000138.5(FBN1):c.7453+1G>T
|
rs397515851
|
|
NM_000138.5(FBN1):c.7497_7498del (p.Cys2500_Val2501insTer)
|
rs397515852
|
|
NM_000138.5(FBN1):c.7498T>A (p.Cys2500Ser)
|
rs363810
|
|
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg)
|
rs363811
|
|
NM_000138.5(FBN1):c.7580A>C (p.Glu2527Ala)
|
rs397515853
|
|
NM_000138.5(FBN1):c.7606G>A (p.Gly2536Arg)
|
rs397515854
|
|
NM_000138.5(FBN1):c.7640G>T (p.Ser2547Ile)
|
rs397515855
|
|
NM_000138.5(FBN1):c.7656C>A (p.Cys2552Ter)
|
rs1555394195
|
|
NM_000138.5(FBN1):c.7699+5del
|
rs397515856
|
|
NM_000138.5(FBN1):c.7784G>T (p.Gly2595Val)
|
rs397515857
|
|
NM_000138.5(FBN1):c.787A>G (p.Ile263Val)
|
rs876657811
|
|
NM_000138.5(FBN1):c.7881G>A (p.Gly2627=)
|
rs397515858
|
|
NM_000138.5(FBN1):c.7892G>A (p.Cys2631Tyr)
|
rs111856492
|
|
NM_000138.5(FBN1):c.7955G>A (p.Cys2652Tyr)
|
rs397515859
|
|
NM_000138.5(FBN1):c.8080C>T (p.Arg2694Ter)
|
rs200309328
|
|
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.8362_8386delinsGA (p.Thr2788fs)
|
rs397515862
|
|
NM_000138.5(FBN1):c.8378A>G (p.Tyr2793Cys)
|
rs397515863
|
|
NM_000138.5(FBN1):c.8473_8475del (p.Gly2825del)
|
rs727504454
|
|
NM_000138.5(FBN1):c.8483C>G (p.Ser2828Ter)
|
rs397515864
|
|
NM_000138.5(FBN1):c.8600A>C (p.Gln2867Pro)
|
rs397515865
|
|
NM_000138.5(FBN1):c.8605_8606del (p.Leu2869fs)
|
rs397515866
|
|
NM_000138.5(FBN1):c.958dup (p.Tyr320fs)
|
rs397515867
|
|