NM_181486.4(TBX5):c.710G>A (p.Arg237Gln)
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rs104894378
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0.00001
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NC_000012.11:g.(?_114803950)_(114823392_?)dup
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NM_181486.4(TBX5):c.1115_1116dup (p.Ala373fs)
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rs1593836748
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NM_181486.4(TBX5):c.1126C>T (p.Gln376Ter)
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rs863223778
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NM_181486.4(TBX5):c.1158del (p.Ser387fs)
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rs1064795870
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NM_181486.4(TBX5):c.1202G>A (p.Trp401Ter)
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NM_181486.4(TBX5):c.148-2A>G
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rs1565942511
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NM_181486.4(TBX5):c.1485del (p.Thr496fs)
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NM_181486.4(TBX5):c.188del (p.Leu63fs)
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rs1555226584
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NM_181486.4(TBX5):c.192G>A (p.Trp64Ter)
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rs1555226581
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NM_181486.4(TBX5):c.217G>C (p.Glu73Gln)
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NM_181486.4(TBX5):c.242+4A>G
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rs886044059
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NM_181486.4(TBX5):c.242+5G>A
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rs1555226575
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NM_181486.4(TBX5):c.243-1G>A
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rs1871673582
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NM_181486.4(TBX5):c.250T>C (p.Phe84Leu)
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rs1131691460
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NM_181486.4(TBX5):c.253C>A (p.Pro85Thr)
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rs1565941579
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NM_181486.4(TBX5):c.253C>T (p.Pro85Ser)
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rs1565941579
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NM_181486.4(TBX5):c.261C>G (p.Tyr87Ter)
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NM_181486.4(TBX5):c.301A>T (p.Ile101Phe)
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rs515726234
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NM_181486.4(TBX5):c.363-2A>G
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rs1565941072
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NM_181486.4(TBX5):c.376_402del (p.Lys126_Arg134del)
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rs863223782
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NM_181486.4(TBX5):c.394C>A (p.Pro132Thr)
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NM_181486.4(TBX5):c.404T>G (p.Leu135Arg)
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rs1057519050
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NM_181486.4(TBX5):c.408C>A (p.Tyr136Ter)
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rs104894379
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NM_181486.4(TBX5):c.486C>A (p.Asn162Lys)
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rs2136416601
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NM_181486.4(TBX5):c.510+1G>T
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rs1565940841
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NM_181486.4(TBX5):c.510+5G>A
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rs1555226301
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NM_181486.4(TBX5):c.510+5G>C
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rs1555226301
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NM_181486.4(TBX5):c.511-1G>A
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NM_181486.4(TBX5):c.511-1del
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NM_181486.4(TBX5):c.652C>T (p.Gln218Ter)
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rs2136410724
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NM_181486.4(TBX5):c.658_660del (p.His220del)
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rs1871328960
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NM_181486.4(TBX5):c.664-2A>G
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rs1565935458
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NM_181486.4(TBX5):c.668C>T (p.Thr223Met)
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rs1555225344
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NM_181486.4(TBX5):c.676A>G (p.Lys226Glu)
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rs1131691932
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NM_181486.4(TBX5):c.677A>G (p.Lys226Arg)
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rs1565935426
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NM_181486.4(TBX5):c.697G>C (p.Ala233Pro)
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rs1870766319
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NM_181486.4(TBX5):c.704G>A (p.Gly235Glu)
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rs1870765797
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NM_181486.4(TBX5):c.755+2T>C
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rs1565935314
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NM_181486.4(TBX5):c.755G>C (p.Ser252Thr)
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rs863223776
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NM_181486.4(TBX5):c.756-2A>G
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rs1869545659
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NM_181486.4(TBX5):c.985_987delinsAC (p.Glu329fs)
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rs1555223294
|
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NM_181486.4(TBX5):c.985_987delinsAG (p.Glu329fs)
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rs1555223294
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