NM_181486.4(TBX5):c.710G>A (p.Arg237Gln)
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rs104894378
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0.00001
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NM_000192.3:c.(362+1_363-1)_(*1602_?)del
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NM_000192.3:c.(362+1_363-1)_(510+1_511-1)del
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NM_000192.3:c.(510+1_511-1)_(663+1_664-1)del
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NM_000192.3:c.(663+1_664-1)_(755+1_756-1)del
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NM_000192.3:c.(663+1_664-1)_(755+1_756-1)dup
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NM_000192.3:c.(982+1_983-1)_(*1602_?)del
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NM_000192.3:c.(?_-38)_(242+1_243-1)dup
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NM_000192.3:c.(?_-667)_(*1602_?)del
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NM_000192.3:c.(?_-667)_(755+1_756-1)dup
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NM_000192.3:c.1033_1034dupGA
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NM_000192.3:c.67_81delins
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NM_000192.3:c.946C>T
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NM_181486.4(TBX5):c.1045G>T (p.Glu349Ter)
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rs1565923887
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NM_181486.4(TBX5):c.1074del (p.Pro359fs)
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NM_181486.4(TBX5):c.1084C>T (p.Gln362Ter)
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rs765204502
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NM_181486.4(TBX5):c.119C>A (p.Ser40Ter)
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rs903933027
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NM_181486.4(TBX5):c.1203G>A (p.Trp401Ter)
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rs377649723
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NM_181486.4(TBX5):c.1269C>G (p.Tyr423Ter)
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rs756049331
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NM_181486.4(TBX5):c.1303del (p.Leu435fs)
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NM_181486.4(TBX5):c.1346del (p.Gln449fs)
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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.148-3C>A
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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.242G>T (p.Arg81Met)
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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.254C>T (p.Pro85Leu)
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rs1565941576
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NM_181486.4(TBX5):c.261C>A (p.Tyr87Ter)
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rs767197919
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NM_181486.4(TBX5):c.295A>T (p.Lys99Ter)
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rs1565941529
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NM_181486.4(TBX5):c.336del (p.His112fs)
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NM_181486.4(TBX5):c.342C>A (p.Tyr114Ter)
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rs1565941422
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NM_181486.4(TBX5):c.353A>G (p.Asp118Gly)
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NM_181486.4(TBX5):c.362G>T (p.Trp121Leu)
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NM_181486.4(TBX5):c.426del (p.Ala143fs)
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NM_181486.4(TBX5):c.444G>A (p.Trp148Ter)
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rs1555226315
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NM_181486.4(TBX5):c.457dup (p.Val153fs)
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NM_181486.4(TBX5):c.496del (p.Asp166fs)
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NM_181486.4(TBX5):c.500del (p.Pro167fs)
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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.520A>G (p.Asn174Asp)
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rs1565939347
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NM_181486.4(TBX5):c.537C>A (p.Tyr179Ter)
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rs1565939337
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NM_181486.4(TBX5):c.559_572dup (p.Asn191fs)
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rs1565939303
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NM_181486.4(TBX5):c.587C>A (p.Ser196Ter)
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rs886041247
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NM_181486.4(TBX5):c.593dup (p.Asn198fs)
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NM_181486.4(TBX5):c.635_636del (p.Ile212fs)
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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.664-342G>T
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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.674T>G (p.Leu225Ter)
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rs1565935432
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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.680_683del (p.Ile227fs)
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rs1565935410
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NM_181486.4(TBX5):c.694T>G (p.Phe232Val)
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rs1565935405
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NM_181486.4(TBX5):c.703G>T (p.Gly235Ter)
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rs1565935397
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NM_181486.4(TBX5):c.709C>T (p.Arg237Trp)
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rs104894382
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NM_181486.4(TBX5):c.713dup (p.Ser239fs)
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NM_181486.4(TBX5):c.728_729del (p.Glu243fs)
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NM_181486.4(TBX5):c.73_74insT (p.Asp25fs)
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rs1565943328
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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.835C>T (p.Arg279Ter)
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rs863223788
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NM_181486.4(TBX5):c.845C>T (p.Ser282Phe)
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rs1565927794
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NM_181486.4(TBX5):c.868C>T (p.Gln290Ter)
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rs1565927747
|
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NM_181486.4(TBX5):c.879T>A (p.Cys293Ter)
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rs1565927740
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NM_181486.4(TBX5):c.924del (p.Asn309fs)
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NM_181486.4(TBX5):c.933C>G (p.Tyr311Ter)
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rs1565927664
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NM_181486.4(TBX5):c.943C>T (p.Gln315Ter)
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rs1565927645
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NM_181486.4(TBX5):c.978del (p.Glu328fs)
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