NC_000015.10:g.(48494255_48495122)_(48499039_48503786)del
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NM_000138.5(FBN1):c.1378T>A (p.Cys460Ser)
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rs1597581005
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NM_000138.5(FBN1):c.1634G>C (p.Arg545Pro)
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rs193922179
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NM_000138.5(FBN1):c.1646_1649delinsGT (p.Thr549fs)
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rs1597577975
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NM_000138.5(FBN1):c.176del (p.Cys59fs)
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rs1597633219
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NM_000138.5(FBN1):c.1782del (p.Phe594fs)
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rs1597577114
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NM_000138.5(FBN1):c.1881_1883inv (p.Cys628Asn)
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NM_000138.5(FBN1):c.1888A>C (p.Asn630His)
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rs1555399821
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NM_000138.5(FBN1):c.189T>G (p.Tyr63Ter)
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rs1597633183
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NM_000138.5(FBN1):c.1962_1981delinsAG (p.Asp654_Cys661delinsGluGly)
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rs1597574308
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NM_000138.5(FBN1):c.202T>C (p.Cys68Arg)
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rs113604459
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NM_000138.5(FBN1):c.2053T>C (p.Cys685Arg)
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rs1597574236
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NM_000138.5(FBN1):c.2113+1G>C
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rs1566913670
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NM_000138.5(FBN1):c.2419+2T>G
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rs1597569536
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NM_000138.5(FBN1):c.2539+2T>G
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rs1597569159
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NM_000138.5(FBN1):c.2561G>A (p.Trp854Ter)
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rs1597568968
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NM_000138.5(FBN1):c.2638G>T (p.Gly880Cys)
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rs794728194
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NM_000138.5(FBN1):c.2886C>A (p.Tyr962Ter)
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rs772108557
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NM_000138.5(FBN1):c.298T>C (p.Cys100Arg)
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rs1597631662
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NM_000138.5(FBN1):c.3065G>A (p.Gly1022Glu)
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rs1597565278
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NM_000138.5(FBN1):c.3096C>A (p.Cys1032Ter)
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rs1597564359
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NM_000138.5(FBN1):c.3372_3376del (p.Cys1124fs)
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rs1597563280
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NM_000138.5(FBN1):c.3398_3399del (p.Glu1133fs)
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rs1597563234
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NM_000138.5(FBN1):c.376G>T (p.Gly126Ter)
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rs1597625734
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NM_000138.5(FBN1):c.503G>T (p.Cys168Phe)
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rs1555404803
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NM_000138.5(FBN1):c.5057del (p.Asn1686fs)
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rs1597545836
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NM_000138.5(FBN1):c.5093del (p.Asn1698fs)
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rs1597545309
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NM_000138.5(FBN1):c.510del (p.Thr169_Tyr170insTer)
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rs1597623670
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NM_000138.5(FBN1):c.5416T>G (p.Cys1806Gly)
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rs1555396419
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NM_000138.5(FBN1):c.5498G>A (p.Cys1833Tyr)
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rs1597537815
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NM_000138.5(FBN1):c.5678A>G (p.Asn1893Ser)
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rs1597533707
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NM_000138.5(FBN1):c.6118T>C (p.Cys2040Arg)
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rs1597529748
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NM_000138.5(FBN1):c.6145A>G (p.Ser2049Gly)
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rs1597529691
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NM_000138.5(FBN1):c.634A>C (p.Thr212Pro)
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rs1597593736
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NM_000138.5(FBN1):c.6380-1G>T
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rs1597526073
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NM_000138.5(FBN1):c.6386A>G (p.Asp2129Gly)
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rs1566896114
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NM_000138.5(FBN1):c.6496+1del
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rs1597525871
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NM_000138.5(FBN1):c.6634C>T (p.Gln2212Ter)
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rs1597522553
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NM_000138.5(FBN1):c.6701dup (p.Tyr2236fs)
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rs1597522390
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NM_000138.5(FBN1):c.6740-1G>T
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rs1555394781
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NM_000138.5(FBN1):c.6804del (p.Ile2269fs)
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rs1597520683
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NM_000138.5(FBN1):c.6828T>G (p.Cys2276Trp)
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rs1597520625
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NM_000138.5(FBN1):c.6872-1G>T
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rs1597518951
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NM_000138.5(FBN1):c.6885T>G (p.Cys2295Trp)
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rs1480832655
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NM_000138.5(FBN1):c.7099G>T (p.Gly2367Ter)
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rs368978109
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NM_000138.5(FBN1):c.7559del (p.Thr2520fs)
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rs1597513708
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NM_000138.5(FBN1):c.7951G>T (p.Glu2651Ter)
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rs1555393859
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NM_000138.5(FBN1):c.979A>G (p.Arg327Gly)
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rs1597587453
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