NM_006494.4(ERF):c.652C>T (p.Arg218Ter)
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rs1425504754
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0.00001
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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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NC_000019.9:g.(?_42703590)_(42778729_?)del
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NC_000019.9:g.(?_42759120)_42759196del
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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.308dup (p.Tyr103Ter)
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rs121909186
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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.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.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.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.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.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.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.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.54_73del (p.Ser18fs)
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rs2115397248
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NM_000474.4(TWIST1):c.556G>A (p.Ala186Thr)
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rs121909190
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NM_000474.4(TWIST1):c.563C>T (p.Ser188Leu)
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rs121909191
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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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NM_006494.4(ERF):c.-44_22+11del
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rs1568475667
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NM_006494.4(ERF):c.1021del (p.Gln341fs)
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NM_006494.4(ERF):c.1072_1073del (p.Pro358fs)
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rs1064796715
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NM_006494.4(ERF):c.1201_1202del (p.Lys401fs)
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rs1064794325
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NM_006494.4(ERF):c.144G>A (p.Trp48Ter)
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rs2036425705
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NM_006494.4(ERF):c.223C>T (p.Gln75Ter)
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rs1568472771
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NM_006494.4(ERF):c.256C>T (p.Arg86Cys)
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rs587777008
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NM_006494.4(ERF):c.272dup (p.Arg92fs)
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NM_006494.4(ERF):c.427del (p.Arg143fs)
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rs2036410199
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NM_006494.4(ERF):c.547C>T (p.Arg183Ter)
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rs587777006
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NM_006494.4(ERF):c.566_567del (p.Asp188_Cys189insTer)
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rs1555750816
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NM_006494.4(ERF):c.619C>T (p.Arg207Ter)
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rs1555750795
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NM_006494.4(ERF):c.71C>G (p.Ser24Ter)
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rs2146952114
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NM_006494.4(ERF):c.733del (p.Leu245fs)
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rs1555750741
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NM_006494.4(ERF):c.891_892del (p.Gly299fs)
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rs587777007
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NM_006494.4(ERF):c.997_1034del (p.Leu332_His333insTer)
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