NM_000138.5(FBN1):c.4750G>A (p.Glu1584Lys)
|
rs148888513
|
0.00029
|
NM_000138.5(FBN1):c.4163G>A (p.Arg1388His)
|
rs749196340
|
0.00004
|
NM_000138.5(FBN1):c.4405C>T (p.Arg1469Cys)
|
rs587782946
|
0.00003
|
NM_000138.5(FBN1):c.2926C>T (p.Arg976Cys)
|
rs548296552
|
0.00001
|
NM_000138.5(FBN1):c.3215A>T (p.Asp1072Val)
|
rs2043526060
|
0.00001
|
NM_000138.5(FBN1):c.8326C>T (p.Arg2776Ter)
|
rs137854466
|
0.00001
|
NM_000138.5(FBN1):c.1538G>C (p.Cys513Ser)
|
rs1060501036
|
|
NM_000138.5(FBN1):c.1560_1566del (p.Gln520fs)
|
rs2141327690
|
|
NM_000138.5(FBN1):c.164G>A (p.Gly55Glu)
|
rs2140787387
|
|
NM_000138.5(FBN1):c.1665C>A (p.Cys555Ter)
|
rs531101773
|
|
NM_000138.5(FBN1):c.1849T>C (p.Cys617Arg)
|
rs1060501017
|
|
NM_000138.5(FBN1):c.2133C>A (p.Cys711Ter)
|
rs2141308906
|
|
NM_000138.5(FBN1):c.2173_2192dup (p.Pro731_Asp732insMetAsnValHisTer)
|
rs2141306536
|
|
NM_000138.5(FBN1):c.2201G>C (p.Cys734Ser)
|
rs794728187
|
|
NM_000138.5(FBN1):c.2248T>C (p.Cys750Arg)
|
rs1555399368
|
|
NM_000138.5(FBN1):c.2258G>T (p.Gly753Val)
|
rs1555399365
|
|
NM_000138.5(FBN1):c.2293+1G>C
|
rs1060501092
|
|
NM_000138.5(FBN1):c.2303A>G (p.Glu768Gly)
|
rs794728189
|
|
NM_000138.5(FBN1):c.2374T>C (p.Cys792Arg)
|
rs2141305039
|
|
NM_000138.5(FBN1):c.2581C>T (p.Arg861Ter)
|
rs140583
|
|
NM_000138.5(FBN1):c.2639G>A (p.Gly880Asp)
|
rs886038953
|
|
NM_000138.5(FBN1):c.2668T>G (p.Cys890Gly)
|
rs1555399145
|
|
NM_000138.5(FBN1):c.2723G>A (p.Cys908Tyr)
|
rs1057523406
|
|
NM_000138.5(FBN1):c.2795dup (p.Phe933fs)
|
rs2141300350
|
|
NM_000138.5(FBN1):c.2953G>A (p.Gly985Arg)
|
rs794728199
|
|
NM_000138.5(FBN1):c.3086T>G (p.Ile1029Ser)
|
rs1291255001
|
|
NM_000138.5(FBN1):c.3146G>A (p.Gly1049Asp)
|
rs1555398670
|
|
NM_000138.5(FBN1):c.3475T>C (p.Cys1159Arg)
|
rs794728205
|
|
NM_000138.5(FBN1):c.3955G>A (p.Gly1319Ser)
|
rs2141287290
|
|
NM_000138.5(FBN1):c.4337A>G (p.Asp1446Gly)
|
rs397515806
|
|
NM_000138.5(FBN1):c.4348T>C (p.Cys1450Arg)
|
rs1555397421
|
|
NM_000138.5(FBN1):c.4366T>C (p.Cys1456Arg)
|
rs2141275799
|
|
NM_000138.5(FBN1):c.4472G>T (p.Cys1491Phe)
|
rs2141273076
|
|
NM_000138.5(FBN1):c.4567C>T (p.Arg1523Ter)
|
rs397515812
|
|
NM_000138.5(FBN1):c.4905del (p.Gly1636fs)
|
rs2141269618
|
|
NM_000138.5(FBN1):c.4930C>T (p.Arg1644Ter)
|
rs140630
|
|
NM_000138.5(FBN1):c.493C>T (p.Arg165Ter)
|
rs113905529
|
|
NM_000138.5(FBN1):c.530G>A (p.Cys177Tyr)
|
rs113695103
|
|
NM_000138.5(FBN1):c.5472C>A (p.Cys1824Ter)
|
rs2141256037
|
|
NM_000138.5(FBN1):c.5560C>T (p.Gln1854Ter)
|
rs2141252259
|
|
NM_000138.5(FBN1):c.5735T>G (p.Phe1912Cys)
|
rs1555395830
|
|
NM_000138.5(FBN1):c.5919dup (p.Ile1974fs)
|
rs1555395670
|
|
NM_000138.5(FBN1):c.6033T>G (p.Cys2011Trp)
|
rs769717588
|
|
NM_000138.5(FBN1):c.6050G>A (p.Cys2017Tyr)
|
rs2141245523
|
|
NM_000138.5(FBN1):c.6331T>C (p.Cys2111Arg)
|
rs363815
|
|
NM_000138.5(FBN1):c.6393C>G (p.Cys2131Trp)
|
rs61730051
|
|
NM_000138.5(FBN1):c.6487G>T (p.Glu2163Ter)
|
rs1555395191
|
|
NM_000138.5(FBN1):c.6658C>T (p.Arg2220Ter)
|
rs113001196
|
|
NM_000138.5(FBN1):c.6751T>C (p.Cys2251Arg)
|
rs112836174
|
|
NM_000138.5(FBN1):c.6825C>G (p.Ile2275Met)
|
rs1597520637
|
|
NM_000138.5(FBN1):c.6953G>C (p.Cys2318Ser)
|
rs1555394626
|
|
NM_000138.5(FBN1):c.7015T>C (p.Cys2339Arg)
|
rs1555394581
|
|
NM_000138.5(FBN1):c.7205-2A>G
|
rs1555394450
|
|
NM_000138.5(FBN1):c.7247G>A (p.Gly2416Glu)
|
rs1555394442
|
|
NM_000138.5(FBN1):c.7448G>A (p.Cys2483Tyr)
|
rs1555394390
|
|
NM_000138.5(FBN1):c.7453+1G>A
|
rs397515851
|
|
NM_000138.5(FBN1):c.7456C>G (p.Leu2486Val)
|
rs2141222601
|
|
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg)
|
rs363811
|
|
NM_000138.5(FBN1):c.7636G>A (p.Gly2546Arg)
|
rs2042942573
|
|
NM_000138.5(FBN1):c.7726C>T (p.Arg2576Cys)
|
rs147195031
|
|
NM_000138.5(FBN1):c.7828G>A (p.Glu2610Lys)
|
rs111984349
|
|
NM_000138.5(FBN1):c.984C>A (p.Cys328Ter)
|
rs2141343233
|
|