NM_006494.4(ERF):c.1230T>C (p.Ala410=)
|
rs35493131
|
0.08759
|
NM_006494.4(ERF):c.981C>T (p.Ser327=)
|
rs61735151
|
0.05337
|
NM_006494.4(ERF):c.1104T>C (p.Ser368=)
|
rs76105803
|
0.03247
|
NM_006494.4(ERF):c.1244C>T (p.Ala415Val)
|
rs139842507
|
0.01177
|
NM_006494.4(ERF):c.24G>A (p.Gly8=)
|
rs200969503
|
0.00135
|
NM_006494.4(ERF):c.1192G>A (p.Gly398Ser)
|
rs111793182
|
0.00133
|
NM_000474.4(TWIST1):c.94G>A (p.Gly32Ser)
|
rs878852992
|
0.00102
|
NM_006494.4(ERF):c.1057A>G (p.Met353Val)
|
rs149405304
|
0.00085
|
NM_006494.4(ERF):c.1046C>T (p.Pro349Leu)
|
rs144812092
|
0.00058
|
NM_006494.4(ERF):c.840G>A (p.Ser280=)
|
rs145699948
|
0.00053
|
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_006494.4(ERF):c.1262C>T (p.Pro421Leu)
|
rs533363033
|
0.00043
|
NM_006494.4(ERF):c.659C>A (p.Pro220His)
|
rs200767779
|
0.00043
|
NM_006494.4(ERF):c.405G>A (p.Val135=)
|
rs144678577
|
0.00041
|
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_006494.4(ERF):c.257+8C>T
|
rs137956794
|
0.00033
|
NM_006494.4(ERF):c.1614G>A (p.Thr538=)
|
rs183334082
|
0.00030
|
NM_006494.4(ERF):c.673C>T (p.Leu225=)
|
rs35578793
|
0.00029
|
NM_006494.4(ERF):c.264C>T (p.Tyr88=)
|
rs140522983
|
0.00022
|
NM_000474.4(TWIST1):c.330G>A (p.Arg110=)
|
rs199932465
|
0.00009
|
NM_006494.4(ERF):c.1263G>C (p.Pro421=)
|
rs750423382
|
0.00009
|
NM_000474.4(TWIST1):c.152G>T (p.Gly51Val)
|
rs1305059157
|
0.00006
|
NM_006494.4(ERF):c.1152C>T (p.Leu384=)
|
rs772786203
|
0.00005
|
NM_006494.4(ERF):c.36G>A (p.Pro12=)
|
rs371076249
|
0.00005
|
NM_006494.4(ERF):c.885C>T (p.Ser295=)
|
rs758048419
|
0.00005
|
NM_006494.4(ERF):c.132C>T (p.Gly44=)
|
rs192294053
|
0.00004
|
NM_006494.4(ERF):c.1461C>T (p.Arg487=)
|
rs371796869
|
0.00004
|
NM_006494.4(ERF):c.450C>T (p.Ser150=)
|
rs747218945
|
0.00004
|
NM_006494.4(ERF):c.514C>T (p.Leu172Phe)
|
rs763588724
|
0.00004
|
NM_006494.4(ERF):c.1222G>A (p.Gly408Arg)
|
rs764764288
|
0.00003
|
NM_006494.4(ERF):c.1478G>A (p.Arg493His)
|
rs762382429
|
0.00003
|
NM_006494.4(ERF):c.819C>T (p.Thr273=)
|
rs200872722
|
0.00003
|
NM_006494.4(ERF):c.1052C>T (p.Pro351Leu)
|
rs376130330
|
0.00002
|
NM_006494.4(ERF):c.1201A>G (p.Lys401Glu)
|
rs753010203
|
0.00002
|
NM_006494.4(ERF):c.208C>T (p.Arg70Cys)
|
rs756869919
|
0.00002
|
NM_006494.4(ERF):c.830A>G (p.Tyr277Cys)
|
rs753014847
|
0.00002
|
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
|
NM_006494.4(ERF):c.247C>A (p.Arg83=)
|
rs766762597
|
0.00001
|
NM_006494.4(ERF):c.652C>T (p.Arg218Ter)
|
rs1425504754
|
0.00001
|
NM_006494.4(ERF):c.824T>C (p.Leu275Pro)
|
rs756557668
|
0.00001
|
NC_000007.13:g.(?_19156336)_(19157207_?)del
|
|
|
NC_000007.14:g.(?_19116693)_(19117341_?)del
|
|
|
NC_000019.9:g.(?_39904727)_(42931301_?)dup
|
|
|
NC_000019.9:g.(?_42703590)_(42778729_?)del
|
|
|
NC_000019.9:g.(?_42759120)_42759196del
|
|
|
NM_000474.4(TWIST1):c.110G>A (p.Arg37His)
|
|
|
NM_000474.4(TWIST1):c.132_142del (p.Ser45fs)
|
rs1554442082
|
|
NM_000474.4(TWIST1):c.141_145del (p.Gly48fs)
|
|
|
NM_000474.4(TWIST1):c.142G>A (p.Gly48Ser)
|
|
|
NM_000474.4(TWIST1):c.161G>T (p.Gly54Val)
|
rs1788590971
|
|
NM_000474.4(TWIST1):c.176del (p.Gly59fs)
|
|
|
NM_000474.4(TWIST1):c.180C>T (p.Val60=)
|
rs565371578
|
|
NM_000474.4(TWIST1):c.185GCG[3] (p.Gly63_Asp64insGly)
|
|
|
NM_000474.4(TWIST1):c.197del (p.Pro66fs)
|
rs1585617611
|
|
NM_000474.4(TWIST1):c.203G>A (p.Ser68Asn)
|
rs1051003265
|
|
NM_000474.4(TWIST1):c.203G>T (p.Ser68Ile)
|
|
|
NM_000474.4(TWIST1):c.211C>T (p.Gln71Ter)
|
rs104894065
|
|
NM_000474.4(TWIST1):c.211del (p.Gln71fs)
|
|
|
NM_000474.4(TWIST1):c.241_264dup (p.Gly88_Gly89insCysGlyGlyGlyGlyGlyAlaGly)
|
|
|
NM_000474.4(TWIST1):c.245GCG[6] (p.Gly86dup)
|
rs754552080
|
|
NM_000474.4(TWIST1):c.245GCG[7] (p.Gly85_Gly86dup)
|
rs754552080
|
|
NM_000474.4(TWIST1):c.253_276dup (p.Gly85_Gly92dup)
|
rs544465774
|
|
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)
|
|
|
NM_000474.4(TWIST1):c.260_274dup (p.Ala87_Gly91dup)
|
rs760471055
|
|
NM_000474.4(TWIST1):c.262GGC[6] (p.Gly92dup)
|
rs750238627
|
|
NM_000474.4(TWIST1):c.264C>T (p.Gly88=)
|
|
|
NM_000474.4(TWIST1):c.273_293dup (p.Gly92_Gly98dup)
|
rs1554442039
|
|
NM_000474.4(TWIST1):c.276_293del (p.Ser94_Ser99del)
|
rs772470139
|
|
NM_000474.4(TWIST1):c.276_293dup (p.Ser99_Pro100insSerSerGlyGlyGlySer)
|
|
|
NM_000474.4(TWIST1):c.277AGC[5] (p.Ser95_Gly96insSerSer)
|
|
|
NM_000474.4(TWIST1):c.277dup (p.Ser93fs)
|
rs1585617402
|
|
NM_000474.4(TWIST1):c.27_35dup (p.Pro12_Ala13insValSerPro)
|
|
|
NM_000474.4(TWIST1):c.290_294del (p.Gly97fs)
|
|
|
NM_000474.4(TWIST1):c.301C>T (p.Gln101Ter)
|
rs1563160116
|
|
NM_000474.4(TWIST1):c.308dup (p.Tyr103Ter)
|
rs121909186
|
|
NM_000474.4(TWIST1):c.309C>T (p.Tyr103=)
|
|
|
NM_000474.4(TWIST1):c.310G>T (p.Glu104Ter)
|
rs757253926
|
|
NM_000474.4(TWIST1):c.328C>G (p.Arg110Gly)
|
|
|
NM_000474.4(TWIST1):c.328C>T (p.Arg110Trp)
|
rs1585617188
|
|
NM_000474.4(TWIST1):c.329G>C (p.Arg110Pro)
|
rs1085307555
|
|
NM_000474.4(TWIST1):c.338_339dup (p.Asn114fs)
|
rs2115396782
|
|
NM_000474.4(TWIST1):c.33G>T (p.Ser11=)
|
rs1554442101
|
|
NM_000474.4(TWIST1):c.341A>C (p.Asn114Thr)
|
rs1554442021
|
|
NM_000474.4(TWIST1):c.346C>G (p.Arg116Gly)
|
rs1554442019
|
|
NM_000474.4(TWIST1):c.347G>C (p.Arg116Pro)
|
|
|
NM_000474.4(TWIST1):c.349G>T (p.Glu117Ter)
|
rs2115396763
|
|
NM_000474.4(TWIST1):c.350A>G (p.Glu117Gly)
|
rs1554442016
|
|
NM_000474.4(TWIST1):c.358C>G (p.Arg120Gly)
|
rs1233220987
|
|
NM_000474.4(TWIST1):c.358C>T (p.Arg120Cys)
|
rs1233220987
|
|
NM_000474.4(TWIST1):c.359G>A (p.Arg120His)
|
|
|
NM_000474.4(TWIST1):c.361A>C (p.Thr121Pro)
|
rs1788582586
|
|
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
|
|
NM_000474.4(TWIST1):c.375C>G (p.Asn125Lys)
|
|
|
NM_000474.4(TWIST1):c.376G>T (p.Glu126Ter)
|
rs121909188
|
|
NM_000474.4(TWIST1):c.385_405dup (p.Ala129_Ile135dup)
|
rs748476974
|
|
NM_000474.4(TWIST1):c.388G>C (p.Ala130Pro)
|
|
|
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
|
|
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
|
|
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
|
|
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)
|
|
|
NM_006494.4(ERF):c.-44_22+11del
|
rs1568475667
|
|
NM_006494.4(ERF):c.1021del (p.Gln341fs)
|
|
|
NM_006494.4(ERF):c.1072_1073del (p.Pro358fs)
|
rs1064796715
|
|
NM_006494.4(ERF):c.1104TTC[3] (p.Ser373del)
|
rs199960550
|
|
NM_006494.4(ERF):c.110T>C (p.Leu37Pro)
|
rs2036426238
|
|
NM_006494.4(ERF):c.1143G>T (p.Pro381=)
|
|
|
NM_006494.4(ERF):c.1191C>T (p.Ala397=)
|
|
|
NM_006494.4(ERF):c.1201_1202del (p.Lys401fs)
|
rs1064794325
|
|
NM_006494.4(ERF):c.1243_1245del (p.Ala415del)
|
rs759202471
|
|
NM_006494.4(ERF):c.1306_1309dup (p.Glu437fs)
|
rs2146948133
|
|
NM_006494.4(ERF):c.1372C>G (p.Arg458Gly)
|
rs766642440
|
|
NM_006494.4(ERF):c.1372C>T (p.Arg458Cys)
|
|
|
NM_006494.4(ERF):c.1386A>G (p.Ala462=)
|
|
|
NM_006494.4(ERF):c.144G>A (p.Trp48Ter)
|
rs2036425705
|
|
NM_006494.4(ERF):c.1500del (p.Ala501fs)
|
|
|
NM_006494.4(ERF):c.1602C>T (p.Leu534=)
|
rs2146947253
|
|
NM_006494.4(ERF):c.194G>A (p.Arg65Gln)
|
rs587777009
|
|
NM_006494.4(ERF):c.199T>G (p.Trp67Gly)
|
rs141468833
|
|
NM_006494.4(ERF):c.223C>T (p.Gln75Ter)
|
rs1568472771
|
|
NM_006494.4(ERF):c.23-9C>T
|
|
|
NM_006494.4(ERF):c.234C>T (p.Tyr78=)
|
|
|
NM_006494.4(ERF):c.256C>T (p.Arg86Cys)
|
rs587777008
|
|
NM_006494.4(ERF):c.257G>A (p.Arg86His)
|
rs765295141
|
|
NM_006494.4(ERF):c.272dup (p.Arg92fs)
|
|
|
NM_006494.4(ERF):c.281T>C (p.Leu94Pro)
|
|
|
NM_006494.4(ERF):c.355A>C (p.Ile119Leu)
|
|
|
NM_006494.4(ERF):c.374-16G>A
|
|
|
NM_006494.4(ERF):c.398C>T (p.Pro133Leu)
|
rs2036411561
|
|
NM_006494.4(ERF):c.408G>A (p.Pro136=)
|
|
|
NM_006494.4(ERF):c.40T>G (p.Trp14Gly)
|
|
|
NM_006494.4(ERF):c.427del (p.Arg143fs)
|
rs2036410199
|
|
NM_006494.4(ERF):c.477C>A (p.Pro159=)
|
|
|
NM_006494.4(ERF):c.532G>C (p.Ala178Pro)
|
rs767011693
|
|
NM_006494.4(ERF):c.547C>T (p.Arg183Ter)
|
rs587777006
|
|
NM_006494.4(ERF):c.565T>G (p.Cys189Gly)
|
|
|
NM_006494.4(ERF):c.566_567del (p.Asp188_Cys189insTer)
|
rs1555750816
|
|
NM_006494.4(ERF):c.597G>A (p.Pro199=)
|
rs778540681
|
|
NM_006494.4(ERF):c.615C>G (p.Arg205=)
|
rs11557114
|
|
NM_006494.4(ERF):c.619C>T (p.Arg207Ter)
|
rs1555750795
|
|
NM_006494.4(ERF):c.71C>G (p.Ser24Ter)
|
rs2146952114
|
|
NM_006494.4(ERF):c.733del (p.Leu245fs)
|
rs1555750741
|
|
NM_006494.4(ERF):c.748G>C (p.Val250Leu)
|
rs2036399893
|
|
NM_006494.4(ERF):c.762C>T (p.Ala254=)
|
|
|
NM_006494.4(ERF):c.810G>A (p.Met270Ile)
|
|
|
NM_006494.4(ERF):c.813G>A (p.Thr271=)
|
rs367694248
|
|
NM_006494.4(ERF):c.823C>T (p.Leu275=)
|
|
|
NM_006494.4(ERF):c.891_892del (p.Gly299fs)
|
rs587777007
|
|
NM_006494.4(ERF):c.911_913del (p.Ser304del)
|
rs2146949300
|
|
NM_006494.4(ERF):c.997_1034del (p.Leu332_His333insTer)
|
|
|