NM_000474.4(TWIST1):c.94G>A (p.Gly32Ser)
|
rs878852992
|
0.00102
|
NM_000474.4(TWIST1):c.369G>C (p.Ser123=)
|
rs144664279
|
0.00049
|
NM_000474.4(TWIST1):c.420G>C (p.Ser140=)
|
rs73079389
|
0.00046
|
NM_000474.4(TWIST1):c.277A>G (p.Ser93Gly)
|
rs925811677
|
0.00039
|
NM_000474.4(TWIST1):c.247G>A (p.Gly83Ser)
|
rs545987863
|
0.00036
|
NM_000474.4(TWIST1):c.330G>A (p.Arg110=)
|
rs199932465
|
0.00009
|
NM_000474.4(TWIST1):c.152G>T (p.Gly51Val)
|
rs1305059157
|
0.00006
|
NM_000474.4(TWIST1):c.134G>A (p.Ser45Asn)
|
rs2522202
|
0.00001
|
NM_000474.4(TWIST1):c.250G>A (p.Gly84Ser)
|
rs1310233431
|
0.00001
|
NM_000474.4(TWIST1):c.316C>G (p.Leu106Val)
|
rs1230428800
|
0.00001
|
NM_000474.4(TWIST1):c.546G>T (p.Arg182=)
|
rs115322362
|
0.00001
|
NM_000474.4(TWIST1):c.70C>G (p.Pro24Ala)
|
rs559821440
|
0.00001
|
NC_000007.13:g.(?_19156336)_(19157207_?)del
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|
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NC_000007.14:g.(?_19116693)_(19117341_?)del
|
|
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NM_000474.4(TWIST1):c.110G>A (p.Arg37His)
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|
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NM_000474.4(TWIST1):c.132_142del (p.Ser45fs)
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rs1554442082
|
|
NM_000474.4(TWIST1):c.141_145del (p.Gly48fs)
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|
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NM_000474.4(TWIST1):c.142G>A (p.Gly48Ser)
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|
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NM_000474.4(TWIST1):c.161G>T (p.Gly54Val)
|
rs1788590971
|
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NM_000474.4(TWIST1):c.176del (p.Gly59fs)
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|
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NM_000474.4(TWIST1):c.180C>T (p.Val60=)
|
rs565371578
|
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NM_000474.4(TWIST1):c.185GCG[3] (p.Gly63_Asp64insGly)
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|
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NM_000474.4(TWIST1):c.197del (p.Pro66fs)
|
rs1585617611
|
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NM_000474.4(TWIST1):c.203G>A (p.Ser68Asn)
|
rs1051003265
|
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NM_000474.4(TWIST1):c.203G>T (p.Ser68Ile)
|
|
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NM_000474.4(TWIST1):c.211C>T (p.Gln71Ter)
|
rs104894065
|
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NM_000474.4(TWIST1):c.211del (p.Gln71fs)
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|
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NM_000474.4(TWIST1):c.241_264dup (p.Gly88_Gly89insCysGlyGlyGlyGlyGlyAlaGly)
|
|
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NM_000474.4(TWIST1):c.245GCG[6] (p.Gly86dup)
|
rs754552080
|
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NM_000474.4(TWIST1):c.245GCG[7] (p.Gly85_Gly86dup)
|
rs754552080
|
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NM_000474.4(TWIST1):c.253_276dup (p.Gly85_Gly92dup)
|
rs544465774
|
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NM_000474.4(TWIST1):c.256_276del (p.Gly86_Gly92del)
|
rs544465774
|
|
NM_000474.4(TWIST1):c.256_276dup (p.Gly86_Gly92dup)
|
rs544465774
|
|
NM_000474.4(TWIST1):c.258_261dup (p.Gly88fs)
|
rs2115396985
|
|
NM_000474.4(TWIST1):c.259_276del (p.Ala87_Gly92del)
|
rs544465774
|
|
NM_000474.4(TWIST1):c.259_276dup (p.Gly92_Ser93insAlaGlyGlyGlyGlyGly)
|
|
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NM_000474.4(TWIST1):c.260_274dup (p.Ala87_Gly91dup)
|
rs760471055
|
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NM_000474.4(TWIST1):c.262GGC[6] (p.Gly92dup)
|
rs750238627
|
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NM_000474.4(TWIST1):c.264C>T (p.Gly88=)
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|
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NM_000474.4(TWIST1):c.273_293dup (p.Gly92_Gly98dup)
|
rs1554442039
|
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NM_000474.4(TWIST1):c.276_293del (p.Ser94_Ser99del)
|
rs772470139
|
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NM_000474.4(TWIST1):c.276_293dup (p.Ser99_Pro100insSerSerGlyGlyGlySer)
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|
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NM_000474.4(TWIST1):c.277AGC[5] (p.Ser95_Gly96insSerSer)
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|
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NM_000474.4(TWIST1):c.277dup (p.Ser93fs)
|
rs1585617402
|
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NM_000474.4(TWIST1):c.27_35dup (p.Pro12_Ala13insValSerPro)
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|
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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)
|
rs1563160116
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NM_000474.4(TWIST1):c.308dup (p.Tyr103Ter)
|
rs121909186
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NM_000474.4(TWIST1):c.309C>T (p.Tyr103=)
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|
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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.328C>G (p.Arg110Gly)
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|
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NM_000474.4(TWIST1):c.328C>T (p.Arg110Trp)
|
rs1585617188
|
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NM_000474.4(TWIST1):c.329G>C (p.Arg110Pro)
|
rs1085307555
|
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NM_000474.4(TWIST1):c.338_339dup (p.Asn114fs)
|
rs2115396782
|
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NM_000474.4(TWIST1):c.33G>T (p.Ser11=)
|
rs1554442101
|
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NM_000474.4(TWIST1):c.341A>C (p.Asn114Thr)
|
rs1554442021
|
|
NM_000474.4(TWIST1):c.346C>G (p.Arg116Gly)
|
rs1554442019
|
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NM_000474.4(TWIST1):c.347G>C (p.Arg116Pro)
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|
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NM_000474.4(TWIST1):c.349G>T (p.Glu117Ter)
|
rs2115396763
|
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NM_000474.4(TWIST1):c.350A>G (p.Glu117Gly)
|
rs1554442016
|
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NM_000474.4(TWIST1):c.358C>G (p.Arg120Gly)
|
rs1233220987
|
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NM_000474.4(TWIST1):c.358C>T (p.Arg120Cys)
|
rs1233220987
|
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NM_000474.4(TWIST1):c.359G>A (p.Arg120His)
|
|
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NM_000474.4(TWIST1):c.361A>C (p.Thr121Pro)
|
rs1788582586
|
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NM_000474.4(TWIST1):c.362C>T (p.Thr121Ile)
|
rs1585617108
|
|
NM_000474.4(TWIST1):c.367T>C (p.Ser123Pro)
|
rs1554442008
|
|
NM_000474.4(TWIST1):c.368C>A (p.Ser123Ter)
|
rs121909187
|
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NM_000474.4(TWIST1):c.375C>G (p.Asn125Lys)
|
|
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NM_000474.4(TWIST1):c.376G>T (p.Glu126Ter)
|
rs121909188
|
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NM_000474.4(TWIST1):c.385_405dup (p.Ala129_Ile135dup)
|
rs748476974
|
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NM_000474.4(TWIST1):c.388G>C (p.Ala130Pro)
|
|
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NM_000474.4(TWIST1):c.395G>C (p.Arg132Pro)
|
rs1554441995
|
|
NM_000474.4(TWIST1):c.395_415del (p.Arg132_Leu138del)
|
rs1554441992
|
|
NM_000474.4(TWIST1):c.395_415dup (p.Arg132_Leu138dup)
|
rs1554441992
|
|
NM_000474.4(TWIST1):c.396_416dup (p.Lys133_Pro139dup)
|
rs1554441991
|
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NM_000474.4(TWIST1):c.397_417dup (p.Lys133_Pro139dup)
|
rs1554441989
|
|
NM_000474.4(TWIST1):c.398_418dup (p.Ser140Ter)
|
rs1563159980
|
|
NM_000474.4(TWIST1):c.400ATC[1] (p.Ile135del)
|
rs2115396671
|
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NM_000474.4(TWIST1):c.400_420dup (p.Ser140_Asp141insIleIleProThrLeuProSer)
|
rs1585616948
|
|
NM_000474.4(TWIST1):c.405C>G (p.Ile135Met)
|
rs757121861
|
|
NM_000474.4(TWIST1):c.406C>A (p.Pro136Thr)
|
rs1585616989
|
|
NM_000474.4(TWIST1):c.406C>G (p.Pro136Ala)
|
|
|
NM_000474.4(TWIST1):c.408dup (p.Thr137fs)
|
rs1554441993
|
|
NM_000474.4(TWIST1):c.415C>T (p.Pro139Ser)
|
rs2115396651
|
|
NM_000474.4(TWIST1):c.416C>T (p.Pro139Leu)
|
rs1788580776
|
|
NM_000474.4(TWIST1):c.419C>T (p.Ser140Leu)
|
rs1554441987
|
|
NM_000474.4(TWIST1):c.421G>A (p.Asp141Asn)
|
|
|
NM_000474.4(TWIST1):c.433A>G (p.Lys145Glu)
|
rs1788580326
|
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NM_000474.4(TWIST1):c.437T>C (p.Ile146Thr)
|
rs1788580225
|
|
NM_000474.4(TWIST1):c.437T>G (p.Ile146Ser)
|
rs1788580225
|
|
NM_000474.4(TWIST1):c.443C>T (p.Thr148Ile)
|
rs1788580077
|
|
NM_000474.4(TWIST1):c.446T>G (p.Leu149Arg)
|
rs1788579980
|
|
NM_000474.4(TWIST1):c.455C>A (p.Ala152Glu)
|
rs1554441982
|
|
NM_000474.4(TWIST1):c.455C>T (p.Ala152Val)
|
|
|
NM_000474.4(TWIST1):c.465C>G (p.Tyr155Ter)
|
|
|
NM_000474.4(TWIST1):c.466A>G (p.Ile156Val)
|
rs104894059
|
|
NM_000474.4(TWIST1):c.467T>G (p.Ile156Ser)
|
rs2115396578
|
|
NM_000474.4(TWIST1):c.472T>C (p.Phe158Leu)
|
rs2115396574
|
|
NM_000474.4(TWIST1):c.474C>G (p.Phe158Leu)
|
rs2115396572
|
|
NM_000474.4(TWIST1):c.475C>T (p.Leu159Phe)
|
rs1563159945
|
|
NM_000474.4(TWIST1):c.476T>C (p.Leu159Pro)
|
rs1585616825
|
|
NM_000474.4(TWIST1):c.484del (p.Val162fs)
|
rs1788579060
|
|
NM_000474.4(TWIST1):c.487C>T (p.Leu163Phe)
|
rs867957820
|
|
NM_000474.4(TWIST1):c.488T>C (p.Leu163Pro)
|
|
|
NM_000474.4(TWIST1):c.508T>A (p.Ser170Thr)
|
|
|
NM_000474.4(TWIST1):c.510dup (p.Lys171fs)
|
rs2115396517
|
|
NM_000474.4(TWIST1):c.51G>C (p.Leu17=)
|
|
|
NM_000474.4(TWIST1):c.530_537dup (p.His180fs)
|
rs2115396467
|
|
NM_000474.4(TWIST1):c.54_73del (p.Ser18fs)
|
rs2115397248
|
|
NM_000474.4(TWIST1):c.560T>C (p.Phe187Ser)
|
rs1554441944
|
|
NM_000474.4(TWIST1):c.565G>A (p.Val189Ile)
|
|
|
NM_000474.4(TWIST1):c.587G>A (p.Trp196Ter)
|
rs2115396414
|
|
NM_000474.4(TWIST1):c.600G>C (p.Ala200=)
|
|
|
NM_000474.4(TWIST1):c.68_75dup (p.Arg26fs)
|
rs1585617865
|
|
NM_000474.4(TWIST1):c.79dup (p.Gln27fs)
|
|
|
NM_000474.4(TWIST1):c.82C>T (p.Gln28Ter)
|
rs104894055
|
|
NM_000474.4(TWIST1):c.90_111del (p.Lys33fs)
|
rs1563160337
|
|
NM_000474.4(TWIST1):c.94G>C (p.Gly32Arg)
|
|
|