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0.00112
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NM_000138.5(FBN1):c.8363C>T (p.Thr2788Met)
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0.00031
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NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile)
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NM_000138.5(FBN1):c.*2360C>G
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NM_000138.5(FBN1):c.5917+3A>G
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0.00014
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NM_000138.5(FBN1):c.3171C>T (p.Ser1057=)
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NM_000138.5(FBN1):c.5672-15C>G
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0.00004
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NM_000138.5(FBN1):c.5442C>T (p.Asn1814=)
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NM_000138.5(FBN1):c.*1672G>A
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NM_000138.5(FBN1):c.-98G>T
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NM_000138.5(FBN1):c.*1437G>A
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0.00001
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NM_000138.5(FBN1):c.*202_*203del
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0.00001
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NM_000138.5(FBN1):c.4313G>A (p.Ser1438Asn)
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rs587782945
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0.00001
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NM_000138.5(FBN1):c.8227-3C>T
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rs200822151
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0.00001
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NM_000138.4(FBN1):c.-371T>C
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rs886051257
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NM_000138.4(FBN1):c.-389_-388TC[1]
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rs886051258
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NM_000138.5(FBN1):c.*1007G>T
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NM_000138.5(FBN1):c.*1396C>T
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NM_000138.5(FBN1):c.*1477C>A
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NM_000138.5(FBN1):c.*1635C>A
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NM_000138.5(FBN1):c.*1733A>G
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rs886051230
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NM_000138.5(FBN1):c.*1943G>T
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rs886051229
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NM_000138.5(FBN1):c.*1950dup
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rs535798341
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NM_000138.5(FBN1):c.*2078G>T
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rs886051228
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NM_000138.5(FBN1):c.*2260C>A
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NM_000138.5(FBN1):c.*2421C>A
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NM_000138.5(FBN1):c.*2533C>A
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NM_000138.5(FBN1):c.*2578C>T
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NM_000138.5(FBN1):c.*2594G>T
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NM_000138.5(FBN1):c.*286C>T
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NM_000138.5(FBN1):c.-132A>C
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NM_000138.5(FBN1):c.1468+4C>A
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NM_000138.5(FBN1):c.5066-14dup
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NM_000138.5(FBN1):c.5788+4C>A
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NM_000138.5(FBN1):c.6264G>C (p.Lys2088Asn)
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NM_000138.5(FBN1):c.6357G>C (p.Val2119=)
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NM_019032.6(ADAMTSL4):c.1750-10_1750-6del
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rs886045267
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NM_019032.6(ADAMTSL4):c.2178-7C>A
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NM_019032.6(ADAMTSL4):c.3026CTC[1] (p.Pro1010del)
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rs755998186
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NM_019032.6(ADAMTSL4):c.767_786del (p.Gln256fs)
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rs199473693
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