NM_000138.5(FBN1):c.4405C>T (p.Arg1469Cys)
|
rs587782946
|
0.00003
|
NM_000138.5(FBN1):c.1379G>A (p.Cys460Tyr)
|
rs1597581001
|
|
NM_000138.5(FBN1):c.1538G>A (p.Cys513Tyr)
|
rs1060501036
|
|
NM_000138.5(FBN1):c.1744_1745del (p.Cys582fs)
|
rs869025420
|
|
NM_000138.5(FBN1):c.1909T>C (p.Cys637Arg)
|
rs869025404
|
|
NM_000138.5(FBN1):c.1A>G (p.Met1Val)
|
rs730880097
|
|
NM_000138.5(FBN1):c.2113+2T>C
|
rs730880105
|
|
NM_000138.5(FBN1):c.2344A>T (p.Arg782Ter)
|
rs752891726
|
|
NM_000138.5(FBN1):c.2534G>C (p.Cys845Ser)
|
rs1597569172
|
|
NM_000138.5(FBN1):c.2673A>G (p.Gln891=)
|
rs1555399143
|
|
NM_000138.5(FBN1):c.2695G>A (p.Gly899Arg)
|
rs869025405
|
|
NM_000138.5(FBN1):c.281G>T (p.Cys94Phe)
|
rs730880098
|
|
NM_000138.5(FBN1):c.2861G>A (p.Arg954His)
|
rs112911555
|
|
NM_000138.5(FBN1):c.3020T>G (p.Leu1007Arg)
|
rs794728200
|
|
NM_000138.5(FBN1):c.3131G>A (p.Cys1044Tyr)
|
rs730880100
|
|
NM_000138.5(FBN1):c.320_321del (p.Ile107fs)
|
rs730880108
|
|
NM_000138.5(FBN1):c.338C>G (p.Ser113Cys)
|
rs869025403
|
|
NM_000138.5(FBN1):c.3656A>G (p.Tyr1219Cys)
|
rs1555398394
|
|
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn)
|
rs794728208
|
|
NM_000138.5(FBN1):c.3794G>C (p.Cys1265Ser)
|
rs1555398279
|
|
NM_000138.5(FBN1):c.3893dup (p.Asn1298fs)
|
rs869025425
|
|
NM_000138.5(FBN1):c.4197del (p.Phe1400fs)
|
rs869025421
|
|
NM_000138.5(FBN1):c.4210+1G>A
|
rs730880106
|
|
NM_000138.5(FBN1):c.4337-1G>T
|
rs1555397424
|
|
NM_000138.5(FBN1):c.4453T>C (p.Cys1485Arg)
|
rs730880101
|
|
NM_000138.5(FBN1):c.4815A>G (p.Glu1605=)
|
rs869025408
|
|
NM_000138.5(FBN1):c.4925A>G (p.Asp1642Gly)
|
rs1597546984
|
|
NM_000138.5(FBN1):c.4935G>A (p.Val1645=)
|
rs886038897
|
|
NM_000138.5(FBN1):c.5015G>A (p.Cys1672Tyr)
|
rs140627
|
|
NM_000138.5(FBN1):c.5016dup (p.Ile1673fs)
|
rs869025426
|
|
NM_000138.5(FBN1):c.5280T>A (p.Tyr1760Ter)
|
rs730880103
|
|
NM_000138.5(FBN1):c.5541C>A (p.Cys1847Ter)
|
rs1597537698
|
|
NM_000138.5(FBN1):c.5626T>C (p.Cys1876Arg)
|
rs1555395980
|
|
NM_000138.5(FBN1):c.5861T>G (p.Phe1954Cys)
|
rs730880104
|
|
NM_000138.5(FBN1):c.5917G>A (p.Asp1973Asn)
|
rs1597532579
|
|
NM_000138.5(FBN1):c.5918-2A>G
|
rs869025418
|
|
NM_000138.5(FBN1):c.6037+1G>A
|
rs1064796636
|
|
NM_000138.5(FBN1):c.6508T>C (p.Cys2170Arg)
|
rs1597523873
|
|
NM_000138.5(FBN1):c.6617A>G (p.Asp2206Gly)
|
rs1597522584
|
|
NM_000138.5(FBN1):c.6634del (p.Gln2212fs)
|
rs1597522557
|
|
NM_000138.5(FBN1):c.6694T>C (p.Cys2232Arg)
|
rs869025411
|
|
NM_000138.5(FBN1):c.6739+1G>A
|
rs869025419
|
|
NM_000138.5(FBN1):c.6739+2T>A
|
rs730880107
|
|
NM_000138.5(FBN1):c.6751T>G (p.Cys2251Gly)
|
rs112836174
|
|
NM_000138.5(FBN1):c.6820T>C (p.Cys2274Arg)
|
rs869025412
|
|
NM_000138.5(FBN1):c.6865T>C (p.Cys2289Arg)
|
rs869025413
|
|
NM_000138.5(FBN1):c.701G>A (p.Gly234Asp)
|
rs1555401670
|
|
NM_000138.5(FBN1):c.7109del (p.Gly2370fs)
|
rs869025422
|
|
NM_000138.5(FBN1):c.7141C>T (p.Gln2381Ter)
|
rs869025414
|
|
NM_000138.5(FBN1):c.7151_7152del (p.Val2384fs)
|
rs869025423
|
|
NM_000138.5(FBN1):c.7259del (p.Asn2420fs)
|
rs869025424
|
|
NM_000138.5(FBN1):c.7330+3_7330+6del
|
rs1597516325
|
|
NM_000138.5(FBN1):c.7421A>G (p.Tyr2474Cys)
|
rs869025415
|
|
NM_000138.5(FBN1):c.7499G>A (p.Cys2500Tyr)
|
rs794728160
|
|
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg)
|
rs363811
|
|
NM_000138.5(FBN1):c.7604G>A (p.Cys2535Tyr)
|
rs1555394210
|
|
NM_000138.5(FBN1):c.7769G>A (p.Cys2590Tyr)
|
rs869025416
|
|
NM_000138.5(FBN1):c.7819G>A (p.Asp2607Asn)
|
rs1597512576
|
|
NM_000138.5(FBN1):c.8148C>G (p.Tyr2716Ter)
|
rs112642323
|
|
NM_000138.5(FBN1):c.8339T>C (p.Leu2780Pro)
|
rs869025417
|
|