GRCh37/hg19 7p21.1(chr7:19066802-19662813)x1
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GRCh37/hg19 7p21.1(chr7:19152100-19157785)
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GRCh37/hg19 7p21.2-21.1(chr7:14470668-20385165)x1
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NC_000007.13:g.(?_19156336)_(19157207_?)del
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NC_000007.14:g.(?_19116693)_(19117341_?)del
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NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr)
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rs121918487
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NM_000141.5(FGFR2):c.1032G>A (p.Ala344=)
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rs121918491
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NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys)
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rs121913478
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NM_000141.5(FGFR2):c.1150G>A (p.Gly384Arg)
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rs1554927408
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NM_000141.5(FGFR2):c.314A>G (p.Tyr105Cys)
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rs1434545235
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NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp)
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rs79184941
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NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg)
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rs77543610
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NM_000141.5(FGFR2):c.804_809del (p.Val269_Val270del)
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rs879253718
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NM_000141.5(FGFR2):c.870G>T (p.Trp290Cys)
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rs121918499
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NM_000141.5(FGFR2):c.943G>T (p.Ala315Ser)
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rs121918504
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NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg)
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rs4647924
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NM_000474.4(TWIST1):c.-18C>T
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NM_000474.4(TWIST1):c.132_142del (p.Ser45fs)
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rs1554442082
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NM_000474.4(TWIST1):c.141_145del (p.Gly48fs)
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NM_000474.4(TWIST1):c.176del (p.Gly59fs)
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NM_000474.4(TWIST1):c.197del (p.Pro66fs)
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rs1585617611
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NM_000474.4(TWIST1):c.211C>T (p.Gln71Ter)
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rs104894065
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NM_000474.4(TWIST1):c.211del (p.Gln71fs)
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NM_000474.4(TWIST1):c.258_261dup (p.Gly88fs)
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rs2115396985
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NM_000474.4(TWIST1):c.277dup (p.Ser93fs)
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rs1585617402
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NM_000474.4(TWIST1):c.290_294del (p.Gly97fs)
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NM_000474.4(TWIST1):c.301C>T (p.Gln101Ter)
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rs1563160116
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NM_000474.4(TWIST1):c.306_307del (p.Tyr103fs)
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rs1585617240
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NM_000474.4(TWIST1):c.308dup (p.Tyr103Ter)
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rs121909186
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NM_000474.4(TWIST1):c.309C>A (p.Tyr103Ter)
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rs104894054
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NM_000474.4(TWIST1):c.309C>G (p.Tyr103Ter)
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rs104894054
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NM_000474.4(TWIST1):c.310G>T (p.Glu104Ter)
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rs757253926
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NM_000474.4(TWIST1):c.319C>T (p.Gln107Ter)
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NM_000474.4(TWIST1):c.321dup (p.Thr108fs)
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rs1788583845
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NM_000474.4(TWIST1):c.325C>T (p.Gln109Ter)
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NM_000474.4(TWIST1):c.338_339dup (p.Asn114fs)
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rs2115396782
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NM_000474.4(TWIST1):c.347G>C (p.Arg116Pro)
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NM_000474.4(TWIST1):c.349G>T (p.Glu117Ter)
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rs2115396763
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NM_000474.4(TWIST1):c.350A>G (p.Glu117Gly)
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rs1554442016
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NM_000474.4(TWIST1):c.356A>C (p.Gln119Pro)
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rs104894057
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NM_000474.4(TWIST1):c.358C>T (p.Arg120Cys)
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rs1233220987
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NM_000474.4(TWIST1):c.362C>T (p.Thr121Ile)
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rs1585617108
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NM_000474.4(TWIST1):c.368C>A (p.Ser123Ter)
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rs121909187
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NM_000474.4(TWIST1):c.376G>T (p.Glu126Ter)
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rs121909188
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NM_000474.4(TWIST1):c.385_405dup (p.Ala129_Ile135dup)
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rs748476974
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NM_000474.4(TWIST1):c.392T>C (p.Leu131Pro)
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rs121909189
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NM_000474.4(TWIST1):c.395G>C (p.Arg132Pro)
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rs1554441995
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NM_000474.4(TWIST1):c.395_415dup (p.Arg132_Leu138dup)
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rs1554441992
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NM_000474.4(TWIST1):c.396_416dup (p.Lys133_Pro139dup)
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rs1554441991
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NM_000474.4(TWIST1):c.397A>T (p.Lys133Ter)
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rs1585617015
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NM_000474.4(TWIST1):c.397_417dup (p.Lys133_Pro139dup)
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rs1554441989
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NM_000474.4(TWIST1):c.398_418dup (p.Ser140Ter)
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rs1563159980
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NM_000474.4(TWIST1):c.400ATC[1] (p.Ile135del)
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rs2115396671
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NM_000474.4(TWIST1):c.400_420dup (p.Ser140_Asp141insIleIleProThrLeuProSer)
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rs1585616948
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NM_000474.4(TWIST1):c.408del (p.Thr137fs)
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NM_000474.4(TWIST1):c.408dup (p.Thr137fs)
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rs1554441993
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NM_000474.4(TWIST1):c.433A>G (p.Lys145Glu)
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rs1788580326
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NM_000474.4(TWIST1):c.437_448del (p.Ile146_Leu149del)
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rs2115396610
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NM_000474.4(TWIST1):c.446T>G (p.Leu149Arg)
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rs1788579980
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NM_000474.4(TWIST1):c.465C>G (p.Tyr155Ter)
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NM_000474.4(TWIST1):c.466A>G (p.Ile156Val)
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rs104894059
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NM_000474.4(TWIST1):c.467T>G (p.Ile156Ser)
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rs2115396578
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NM_000474.4(TWIST1):c.475C>T (p.Leu159Phe)
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rs1563159945
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NM_000474.4(TWIST1):c.541G>T (p.Glu181Ter)
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rs104894058
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NM_000474.4(TWIST1):c.54_73del (p.Ser18fs)
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rs2115397248
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NM_000474.4(TWIST1):c.587G>A (p.Trp196Ter)
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rs2115396414
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NM_000474.4(TWIST1):c.68_75dup (p.Arg26fs)
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rs1585617865
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NM_000474.4(TWIST1):c.79dup (p.Gln27fs)
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NM_000474.4(TWIST1):c.82C>T (p.Gln28Ter)
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rs104894055
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NM_000474.4(TWIST1):c.90_111del (p.Lys33fs)
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rs1563160337
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