NM_000138.5(FBN1):c.3463G>A (p.Asp1155Asn)
|
rs794728204
|
0.00001
|
NM_000138.5(FBN1):c.1169_1170del (p.Ser390fs)
|
rs2141331190
|
|
NM_000138.5(FBN1):c.1462T>C (p.Cys488Arg)
|
rs1555400373
|
|
NM_000138.5(FBN1):c.1537T>C (p.Cys513Arg)
|
rs1555400279
|
|
NM_000138.5(FBN1):c.1787G>A (p.Cys596Tyr)
|
rs2043732180
|
|
NM_000138.5(FBN1):c.1846G>A (p.Glu616Lys)
|
rs397515764
|
|
NM_000138.5(FBN1):c.1904A>G (p.Tyr635Cys)
|
rs1555399816
|
|
NM_000138.5(FBN1):c.213del (p.Gly70_Trp71insTer)
|
rs2140737436
|
|
NM_000138.5(FBN1):c.2227C>T (p.Arg743Cys)
|
rs794728188
|
|
NM_000138.5(FBN1):c.2327G>T (p.Cys776Phe)
|
|
|
NM_000138.5(FBN1):c.2488T>A (p.Cys830Ser)
|
rs397515773
|
|
NM_000138.5(FBN1):c.2539+1G>T
|
rs794728192
|
|
NM_000138.5(FBN1):c.2627G>T (p.Cys876Phe)
|
rs794728193
|
|
NM_000138.5(FBN1):c.2638G>A (p.Gly880Ser)
|
rs794728194
|
|
NM_000138.5(FBN1):c.2666dup (p.Cys890fs)
|
rs2043594458
|
|
NM_000138.5(FBN1):c.2945G>T (p.Cys982Phe)
|
rs1057524458
|
|
NM_000138.5(FBN1):c.2953G>A (p.Gly985Arg)
|
rs794728199
|
|
NM_000138.5(FBN1):c.3274del (p.Asp1092fs)
|
rs397515788
|
|
NM_000138.5(FBN1):c.3290G>T (p.Cys1097Phe)
|
rs1555398627
|
|
NM_000138.5(FBN1):c.3344A>G (p.Asp1115Gly)
|
rs794728203
|
|
NM_000138.5(FBN1):c.3373C>T (p.Arg1125Ter)
|
rs727505006
|
|
NM_000138.5(FBN1):c.3449dup (p.Ser1151fs)
|
|
|
NM_000138.5(FBN1):c.347-3_442+4del
|
rs2140717963
|
|
NM_000138.5(FBN1):c.3589G>A (p.Asp1197Asn)
|
rs397515793
|
|
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn)
|
rs794728208
|
|
NM_000138.5(FBN1):c.3902G>T (p.Gly1301Val)
|
rs1566908083
|
|
NM_000138.5(FBN1):c.4081T>C (p.Cys1361Arg)
|
rs1566906506
|
|
NM_000138.5(FBN1):c.4096G>A (p.Glu1366Lys)
|
rs763449629
|
|
NM_000138.5(FBN1):c.4349G>T (p.Cys1450Phe)
|
rs1555397419
|
|
NM_000138.5(FBN1):c.4367G>A (p.Cys1456Tyr)
|
rs397515805
|
|
NM_000138.5(FBN1):c.4409G>A (p.Cys1470Tyr)
|
rs2043365537
|
|
NM_000138.5(FBN1):c.4539C>G (p.Cys1513Trp)
|
rs1555397203
|
|
NM_000138.5(FBN1):c.4700del (p.Gly1567fs)
|
rs1566904526
|
|
NM_000138.5(FBN1):c.4708_4722delinsCA (p.Trp1570fs)
|
rs2141272280
|
|
NM_000138.5(FBN1):c.4780G>T (p.Gly1594Cys)
|
rs2043316188
|
|
NM_000138.5(FBN1):c.479G>A (p.Cys160Tyr)
|
rs1555404810
|
|
NM_000138.5(FBN1):c.4849dup (p.Cys1617fs)
|
|
|
NM_000138.5(FBN1):c.4864T>C (p.Cys1622Arg)
|
|
|
NM_000138.5(FBN1):c.4898G>A (p.Cys1633Tyr)
|
rs1555396993
|
|
NM_000138.5(FBN1):c.4927dup (p.Thr1643fs)
|
rs1566903914
|
|
NM_000138.5(FBN1):c.493C>T (p.Arg165Ter)
|
rs113905529
|
|
NM_000138.5(FBN1):c.502T>C (p.Cys168Arg)
|
rs2044515247
|
|
NM_000138.5(FBN1):c.5073AAG[1] (p.Arg1692del)
|
rs1555396789
|
|
NM_000138.5(FBN1):c.5371T>C (p.Cys1791Arg)
|
rs1555396427
|
|
NM_000138.5(FBN1):c.5441del (p.Asn1814fs)
|
rs2043210418
|
|
NM_000138.5(FBN1):c.5465_5484del (p.Ala1822fs)
|
rs2141256009
|
|
NM_000138.5(FBN1):c.5504_5505del (p.Asp1834_Cys1835insTer)
|
rs1566900492
|
|
NM_000138.5(FBN1):c.5512G>T (p.Gly1838Cys)
|
rs397515823
|
|
NM_000138.5(FBN1):c.5840G>T (p.Cys1947Phe)
|
rs397515828
|
|
NM_000138.5(FBN1):c.5917+5_5917+29del
|
|
|
NM_000138.5(FBN1):c.5964del (p.Cys1989fs)
|
rs1566898120
|
|
NM_000138.5(FBN1):c.6049T>C (p.Cys2017Arg)
|
rs1555395486
|
|
NM_000138.5(FBN1):c.6331T>C (p.Cys2111Arg)
|
rs363815
|
|
NM_000138.5(FBN1):c.6350_6360del (p.Ile2117fs)
|
rs2141240851
|
|
NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys)
|
rs794728334
|
|
NM_000138.5(FBN1):c.6431A>G (p.Asn2144Ser)
|
rs137854461
|
|
NM_000138.5(FBN1):c.6662G>T (p.Cys2221Phe)
|
rs137854460
|
|
NM_000138.5(FBN1):c.6740-2del
|
rs1555394783
|
|
NM_000138.5(FBN1):c.6751T>C (p.Cys2251Arg)
|
rs112836174
|
|
NM_000138.5(FBN1):c.6815A>G (p.Tyr2272Cys)
|
rs2141232534
|
|
NM_000138.5(FBN1):c.7299C>G (p.Tyr2433Ter)
|
rs1566892872
|
|
NM_000138.5(FBN1):c.7325G>A (p.Cys2442Tyr)
|
rs1597516347
|
|
NM_000138.5(FBN1):c.7410C>G (p.Cys2470Trp)
|
rs1555394397
|
|
NM_000138.5(FBN1):c.7532G>A (p.Cys2511Tyr)
|
rs1555394238
|
|
NM_000138.5(FBN1):c.7582T>C (p.Cys2528Arg)
|
rs1566891701
|
|
NM_000138.5(FBN1):c.7654T>C (p.Cys2552Arg)
|
rs1566891668
|
|
NM_000138.5(FBN1):c.7711T>C (p.Cys2571Arg)
|
rs2042934926
|
|
NM_000138.5(FBN1):c.7820-1G>A
|
rs1597509836
|
|
NM_000138.5(FBN1):c.8038C>T (p.Arg2680Cys)
|
rs794728283
|
|
NM_000138.5(FBN1):c.8597T>A (p.Ile2866Asn)
|
rs1597506544
|
|
NM_000138.5(FBN1):c.911G>A (p.Cys304Tyr)
|
rs1555401011
|
|
NM_000138.5(FBN1):c.950del (p.Pro317fs)
|
rs1566919637
|
|