|
NM_017617.5(NOTCH1):c.1669+9T>C
|
rs3125006
|
0.88208
|
|
NM_017617.5(NOTCH1):c.3325+21A>G
|
rs3124597
|
0.66794
|
|
NM_017617.5(NOTCH1):c.2970-31A>G
|
rs3124598
|
0.66710
|
|
NM_017617.5(NOTCH1):c.1556-43T>C
|
rs4880099
|
0.63476
|
|
NM_017617.5(NOTCH1):c.312T>C (p.Asn104=)
|
rs4489420
|
0.62688
|
|
NM_017617.5(NOTCH1):c.5473-43T>C
|
rs3124594
|
0.62391
|
|
NM_017617.5(NOTCH1):c.6555C>T (p.Asp2185=)
|
rs2229974
|
0.58641
|
|
NM_017617.5(NOTCH1):c.1441+7C>T
|
rs9411208
|
0.57467
|
|
NM_017617.5(NOTCH1):c.2588-4G>A
|
rs3125001
|
0.48926
|
|
NM_017617.5(NOTCH1):c.1555+10A>G
|
rs11145767
|
0.47945
|
|
NM_017617.5(NOTCH1):c.1670-9A>G
|
rs3124603
|
0.47096
|
|
NM_017617.5(NOTCH1):c.5094C>T (p.Asp1698=)
|
rs10521
|
0.43502
|
|
NM_017617.5(NOTCH1):c.2265T>C (p.Asn755=)
|
rs2229971
|
0.42989
|
|
NM_017617.5(NOTCH1):c.1442-43C>T
|
rs9411254
|
0.40689
|
|
NM_005585.5(SMAD6):c.875-22C>A
|
rs2278604
|
0.23475
|
|
NM_017617.5(NOTCH1):c.852G>A (p.Pro284=)
|
rs2229975
|
0.12249
|
|
NM_017617.5(NOTCH1):c.6180+44T>C
|
rs9632944
|
0.12085
|
|
NM_017617.5(NOTCH1):c.2740+12C>T
|
rs36119806
|
0.11457
|
|
NM_017617.5(NOTCH1):c.3171+42G>A
|
rs11145765
|
0.08084
|
|
NM_017617.5(NOTCH1):c.5639-12C>T
|
rs11574908
|
0.06332
|
|
NM_181486.4(TBX5):c.309C>T (p.Leu103=)
|
rs28730763
|
0.04319
|
|
NM_017617.5(NOTCH1):c.7233A>G (p.Pro2411=)
|
rs11574911
|
0.02871
|
|
NM_017617.5(NOTCH1):c.2587+20G>A
|
rs148381982
|
0.01991
|
|
NM_181486.4(TBX5):c.148-19T>A
|
rs80026530
|
0.01865
|
|
NM_017617.5(NOTCH1):c.711C>T (p.Gly237=)
|
rs61751557
|
0.01860
|
|
NM_017617.5(NOTCH1):c.6853G>A (p.Val2285Ile)
|
rs61751489
|
0.01849
|
|
NM_181486.4(TBX5):c.1281C>T (p.Ser427=)
|
rs6489957
|
0.01766
|
|
NM_017617.5(NOTCH1):c.2205C>T (p.Asn735=)
|
rs2229970
|
0.01759
|
|
NM_017617.5(NOTCH1):c.3836G>A (p.Arg1279His)
|
rs61751543
|
0.01655
|
|
NM_017617.5(NOTCH1):c.4129C>T (p.Pro1377Ser)
|
rs61751542
|
0.01511
|
|
NM_017617.5(NOTCH1):c.*6G>A
|
rs73668310
|
0.01480
|
|
NM_017617.5(NOTCH1):c.2468-19G>A
|
rs116515776
|
0.01328
|
|
NM_017617.5(NOTCH1):c.1100-16G>C
|
rs146815871
|
0.01292
|
|
NM_017617.5(NOTCH1):c.5679C>T (p.Gly1893=)
|
rs2229973
|
0.01198
|
|
NM_017617.5(NOTCH1):c.2664C>T (p.His888=)
|
rs61751548
|
0.01162
|
|
NM_017617.5(NOTCH1):c.2691C>T (p.Ala897=)
|
rs11574895
|
0.01135
|
|
NM_017617.5(NOTCH1):c.6648G>A (p.Pro2216=)
|
rs3812596
|
0.01000
|
|
NM_017617.5(NOTCH1):c.1665G>A (p.Thr555=)
|
rs148331061
|
0.00992
|
|
NM_017617.5(NOTCH1):c.7515T>G (p.Pro2505=)
|
rs34152221
|
0.00938
|
|
NM_017617.5(NOTCH1):c.5011G>A (p.Val1671Ile)
|
rs2229968
|
0.00898
|
|
NM_017617.5(NOTCH1):c.1635C>T (p.Asp545=)
|
rs11574889
|
0.00854
|
|
NM_017617.5(NOTCH1):c.2969+13C>T
|
rs7864720
|
0.00778
|
|
NM_017617.5(NOTCH1):c.3780G>C (p.Val1260=)
|
rs201354526
|
0.00754
|
|
NM_181486.4(TBX5):c.982+16C>T
|
rs28730762
|
0.00694
|
|
NM_017617.5(NOTCH1):c.663C>T (p.Pro221=)
|
rs11574872
|
0.00685
|
|
NM_017617.5(NOTCH1):c.5019-13A>G
|
rs148002954
|
0.00648
|
|
NM_017617.5(NOTCH1):c.3767C>T (p.Pro1256Leu)
|
rs80340744
|
0.00645
|
|
NM_017617.5(NOTCH1):c.5168-10G>A
|
rs199903655
|
0.00645
|
|
NM_017617.5(NOTCH1):c.6777T>C (p.Gly2259=)
|
rs61751490
|
0.00638
|
|
NM_017617.5(NOTCH1):c.64C>T (p.Pro22Ser)
|
rs114832250
|
0.00587
|
|
NM_017617.5(NOTCH1):c.5124G>T (p.Ser1708=)
|
rs35980907
|
0.00561
|
|
NM_017617.5(NOTCH1):c.6991G>A (p.Ala2331Thr)
|
rs111309246
|
0.00557
|
|
NM_005585.5(SMAD6):c.139C>T (p.Pro47Ser)
|
rs368960350
|
0.00546
|
|
NM_005585.5(SMAD6):c.711C>T (p.His237=)
|
rs144415105
|
0.00542
|
|
NM_005585.5(SMAD6):c.1167C>T (p.Phe389=)
|
rs12591946
|
0.00538
|
|
NM_005585.5(SMAD6):c.61G>A (p.Asp21Asn)
|
rs188799901
|
0.00505
|
|
NM_017617.5(NOTCH1):c.7209G>A (p.Gln2403=)
|
rs61751486
|
0.00503
|
|
NM_017617.5(NOTCH1):c.6397C>T (p.Pro2133Ser)
|
rs61733294
|
0.00484
|
|
NM_017617.5(NOTCH1):c.873C>T (p.Tyr291=)
|
rs143654474
|
0.00477
|
|
NM_017617.5(NOTCH1):c.3333C>T (p.Asp1111=)
|
rs61751545
|
0.00435
|
|
NM_181486.4(TBX5):c.787G>A (p.Val263Met)
|
rs147405081
|
0.00423
|
|
NM_017617.5(NOTCH1):c.4823G>A (p.Arg1608His)
|
rs76371972
|
0.00404
|
|
NM_017617.5(NOTCH1):c.62-8C>T
|
rs202023246
|
0.00401
|
|
NM_017617.5(NOTCH1):c.6870C>T (p.Ser2290=)
|
rs61751488
|
0.00398
|
|
NM_181486.4(TBX5):c.331G>T (p.Asp111Tyr)
|
rs77357563
|
0.00382
|
|
NM_017617.5(NOTCH1):c.4536C>T (p.Ala1512=)
|
rs61751540
|
0.00377
|
|
NM_017617.5(NOTCH1):c.2207+10G>A
|
rs191892426
|
0.00343
|
|
NM_017617.5(NOTCH1):c.5073G>A (p.Gln1691=)
|
rs61751538
|
0.00341
|
|
NM_017617.5(NOTCH1):c.5226C>T (p.Ala1742=)
|
rs116316039
|
0.00334
|
|
NM_017617.5(NOTCH1):c.1669+13G>A
|
rs147260092
|
0.00319
|
|
NM_017617.5(NOTCH1):c.2542G>A (p.Glu848Lys)
|
rs35136134
|
0.00318
|
|
NM_017617.5(NOTCH1):c.2769A>G (p.Thr923=)
|
rs201985795
|
0.00314
|
|
NM_017617.5(NOTCH1):c.4827C>T (p.Asp1609=)
|
rs113634293
|
0.00308
|
|
NM_017617.5(NOTCH1):c.5445C>T (p.Asp1815=)
|
rs61751535
|
0.00307
|
|
NM_181486.4(TBX5):c.1234G>A (p.Val412Ile)
|
rs114124210
|
0.00301
|
|
NM_019055.6(ROBO4):c.1985G>A (p.Gly662Asp)
|
rs145067866
|
0.00297
|
|
NM_017617.5(NOTCH1):c.5384+13C>T
|
rs112582298
|
0.00291
|
|
NM_017617.5(NOTCH1):c.5673C>T (p.Ser1891=)
|
rs2229972
|
0.00289
|
|
NM_017617.5(NOTCH1):c.7338G>A (p.Leu2446=)
|
rs35320927
|
0.00289
|
|
NM_017617.5(NOTCH1):c.3294C>T (p.Ser1098=)
|
rs61751546
|
0.00283
|
|
NM_005585.5(SMAD6):c.817+9G>C
|
rs200726236
|
0.00239
|
|
NM_017617.5(NOTCH1):c.5175C>T (p.Thr1725=)
|
rs61751536
|
0.00238
|
|
NM_017617.5(NOTCH1):c.5988G>A (p.Thr1996=)
|
rs186453356
|
0.00235
|
|
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp)
|
rs201620358
|
0.00223
|
|
NM_017617.5(NOTCH1):c.4626C>T (p.Asp1542=)
|
rs142375989
|
0.00207
|
|
NM_017617.5(NOTCH1):c.7289G>C (p.Gly2430Ala)
|
rs36049318
|
0.00200
|
|
NM_017617.5(NOTCH1):c.2813G>A (p.Arg938Gln)
|
rs35962301
|
0.00195
|
|
NM_181486.4(TBX5):c.114C>T (p.Ser38=)
|
rs34014008
|
0.00194
|
|
NM_017617.5(NOTCH1):c.4887C>T (p.His1629=)
|
rs61751539
|
0.00182
|
|
NM_017617.5(NOTCH1):c.2124C>T (p.Tyr708=)
|
rs376744729
|
0.00178
|
|
NM_017617.5(NOTCH1):c.3315G>T (p.Ala1105=)
|
rs3812602
|
0.00175
|
|
NM_017617.5(NOTCH1):c.4028C>T (p.Ala1343Val)
|
rs183156491
|
0.00171
|
|
NM_017617.5(NOTCH1):c.263G>A (p.Ser88Asn)
|
rs191357265
|
0.00156
|
|
NM_005585.5(SMAD6):c.1359C>T (p.Asp453=)
|
rs368834798
|
0.00154
|
|
NM_017617.5(NOTCH1):c.1122C>T (p.Asp374=)
|
rs192683347
|
0.00148
|
|
NM_017617.5(NOTCH1):c.4056C>T (p.Cys1352=)
|
rs200099319
|
0.00147
|
|
NM_017617.5(NOTCH1):c.52G>A (p.Ala18Thr)
|
rs754613772
|
0.00145
|
|
NM_181486.4(TBX5):c.804C>G (p.Ala268=)
|
rs35110399
|
0.00143
|
|
NM_005585.5(SMAD6):c.79A>G (p.Ser27Gly)
|
rs374058045
|
0.00142
|
|
NM_017617.5(NOTCH1):c.2207+16G>A
|
rs200956009
|
0.00139
|
|
NM_017617.5(NOTCH1):c.3511-10G>A
|
rs139838537
|
0.00134
|
|
NM_017617.5(NOTCH1):c.865+18C>T
|
rs55677618
|
0.00133
|
|
NM_005585.5(SMAD6):c.336C>A (p.Gly112=)
|
rs371330988
|
0.00123
|
|
NM_017617.5(NOTCH1):c.2970-20G>A
|
rs367927174
|
0.00116
|
|
NM_017617.5(NOTCH1):c.7648A>G (p.Ile2550Val)
|
rs188270459
|
0.00115
|
|
NM_017617.5(NOTCH1):c.1511G>A (p.Arg504His)
|
rs201768800
|
0.00110
|
|
NM_005585.5(SMAD6):c.909G>A (p.Thr303=)
|
rs139719094
|
0.00108
|
|
NM_017617.5(NOTCH1):c.6105C>T (p.Ala2035=)
|
rs188357478
|
0.00108
|
|
NM_017617.5(NOTCH1):c.2604C>T (p.Val868=)
|
rs115235667
|
0.00103
|
|
NM_005585.5(SMAD6):c.362G>A (p.Cys121Tyr)
|
rs80232004
|
0.00101
|
|
NM_017617.5(NOTCH1):c.2049G>A (p.Ala683=)
|
rs61751553
|
0.00093
|
|
NM_017617.5(NOTCH1):c.1862G>A (p.Arg621His)
|
rs138504021
|
0.00092
|
|
NM_005585.5(SMAD6):c.290G>A (p.Gly97Glu)
|
rs566777509
|
0.00089
|
|
NM_181486.4(TBX5):c.836G>A (p.Arg279Gln)
|
rs115178276
|
0.00087
|
|
NM_017617.5(NOTCH1):c.1650C>T (p.Tyr550=)
|
rs371634784
|
0.00086
|
|
NM_181486.4(TBX5):c.316A>G (p.Ile106Val)
|
rs147710408
|
0.00086
|
|
NM_017617.5(NOTCH1):c.1440C>T (p.Pro480=)
|
rs61751555
|
0.00080
|
|
NM_017617.5(NOTCH1):c.368C>T (p.Thr123Met)
|
rs187473846
|
0.00074
|
|
NM_017617.5(NOTCH1):c.1962C>T (p.Thr654=)
|
rs61751554
|
0.00073
|
|
NM_017617.5(NOTCH1):c.3401A>G (p.Gln1134Arg)
|
rs374230681
|
0.00070
|
|
NM_017617.5(NOTCH1):c.5500C>T (p.Leu1834=)
|
rs73668312
|
0.00070
|
|
NM_017617.5(NOTCH1):c.3384G>A (p.Thr1128=)
|
rs200608278
|
0.00069
|
|
NM_017617.5(NOTCH1):c.1389C>T (p.Asn463=)
|
rs61733293
|
0.00068
|
|
NM_005585.5(SMAD6):c.1184A>G (p.Lys395Arg)
|
rs149949971
|
0.00065
|
|
NM_017617.5(NOTCH1):c.7536G>A (p.Pro2512=)
|
rs192299793
|
0.00064
|
|
NM_017617.5(NOTCH1):c.3115G>A (p.Gly1039Ser)
|
rs200207651
|
0.00063
|
|
NM_017617.5(NOTCH1):c.6363C>T (p.Ser2121=)
|
rs61751533
|
0.00062
|
|
NM_017617.5(NOTCH1):c.4168C>A (p.Pro1390Thr)
|
rs191645600
|
0.00061
|
|
NM_017617.5(NOTCH1):c.5967T>C (p.Asp1989=)
|
rs73668311
|
0.00061
|
|
NM_017617.5(NOTCH1):c.4917C>T (p.Ala1639=)
|
rs371365065
|
0.00058
|
|
NM_017617.5(NOTCH1):c.1100-14C>T
|
rs562148507
|
0.00056
|
|
NM_017617.5(NOTCH1):c.311A>G (p.Asn104Ser)
|
rs199654211
|
0.00056
|
|
NM_181486.4(TBX5):c.55G>T (p.Ala19Ser)
|
rs200461617
|
0.00054
|
|
NM_017617.5(NOTCH1):c.2136C>A (p.Thr712=)
|
rs369346436
|
0.00053
|
|
NM_017617.5(NOTCH1):c.3249C>T (p.Cys1083=)
|
rs139994842
|
0.00053
|
|
NM_017617.5(NOTCH1):c.4653C>T (p.Ser1551=)
|
rs368495371
|
0.00051
|
|
NM_017617.5(NOTCH1):c.5781G>A (p.Thr1927=)
|
rs367587437
|
0.00051
|
|
NM_017617.5(NOTCH1):c.6108C>T (p.Ala2036=)
|
rs369167693
|
0.00051
|
|
NM_181486.4(TBX5):c.747A>G (p.Arg249=)
|
rs138552878
|
0.00051
|
|
NM_181486.4(TBX5):c.827G>A (p.Ser276Asn)
|
rs147977741
|
0.00049
|
|
NM_017617.5(NOTCH1):c.2505C>A (p.Pro835=)
|
rs111756273
|
0.00047
|
|
NM_005585.5(SMAD6):c.447C>T (p.Ala149=)
|
rs181184476
|
0.00045
|
|
NM_017617.5(NOTCH1):c.5403A>G (p.Ser1801=)
|
rs201358664
|
0.00045
|
|
NM_017617.5(NOTCH1):c.7390C>T (p.Leu2464=)
|
rs372760677
|
0.00045
|
|
NM_017617.5(NOTCH1):c.1553C>T (p.Thr518Met)
|
rs377535397
|
0.00044
|
|
NM_017617.5(NOTCH1):c.3831C>T (p.Asp1277=)
|
rs374989581
|
0.00044
|
|
NM_017617.5(NOTCH1):c.3901+3G>A
|
rs373113999
|
0.00043
|
|
NM_017617.5(NOTCH1):c.7449G>A (p.Thr2483=)
|
rs375728200
|
0.00043
|
|
NM_005585.5(SMAD6):c.1029G>T (p.Val343=)
|
rs139975027
|
0.00041
|
|
NM_017617.5(NOTCH1):c.2325C>T (p.Tyr775=)
|
rs749686245
|
0.00041
|
|
NM_017617.5(NOTCH1):c.3644-4G>A
|
rs376161552
|
0.00040
|
|
NM_017617.5(NOTCH1):c.3326-11A>C
|
rs377648586
|
0.00039
|
|
NM_017617.5(NOTCH1):c.7369C>G (p.Leu2457Val)
|
rs61755043
|
0.00039
|
|
NM_181486.4(TBX5):c.354T>C (p.Asp118=)
|
rs151249768
|
0.00039
|
|
NM_005585.5(SMAD6):c.1256C>T (p.Ala419Val)
|
rs145093897
|
0.00038
|
|
NM_017617.5(NOTCH1):c.2646A>T (p.Ala882=)
|
rs61751550
|
0.00038
|
|
NM_017617.5(NOTCH1):c.432C>T (p.Cys144=)
|
rs373713957
|
0.00035
|
|
NM_017617.5(NOTCH1):c.6429C>T (p.Asn2143=)
|
rs369845924
|
0.00035
|
|
NM_017617.5(NOTCH1):c.6636C>T (p.Asp2212=)
|
rs370606059
|
0.00035
|
|
NM_017617.5(NOTCH1):c.1981G>A (p.Gly661Ser)
|
rs201077220
|
0.00034
|
|
NM_017617.5(NOTCH1):c.2495C>T (p.Pro832Leu)
|
rs559917218
|
0.00034
|
|
NM_017617.5(NOTCH1):c.1038C>T (p.His346=)
|
rs376951155
|
0.00033
|
|
NM_017617.5(NOTCH1):c.3042G>A (p.Thr1014=)
|
rs371532644
|
0.00032
|
|
NM_017617.5(NOTCH1):c.186G>C (p.Pro62=)
|
rs374320445
|
0.00031
|
|
NM_005585.5(SMAD6):c.761C>A (p.Ala254Asp)
|
rs529866697
|
0.00030
|
|
NM_181486.4(TBX5):c.1115C>T (p.Ser372Leu)
|
rs143068551
|
0.00030
|
|
NM_181486.4(TBX5):c.865T>G (p.Ser289Ala)
|
rs543015692
|
0.00030
|
|
NM_017617.5(NOTCH1):c.4548C>T (p.Phe1516=)
|
rs199740882
|
0.00029
|
|
NM_005585.5(SMAD6):c.858C>T (p.Asp286=)
|
rs141679164
|
0.00028
|
|
NM_181486.4(TBX5):c.948G>A (p.Glu316=)
|
rs767086503
|
0.00028
|
|
NM_019055.6(ROBO4):c.691T>A (p.Tyr231Asn)
|
rs149517154
|
0.00027
|
|
NM_017617.5(NOTCH1):c.4407C>T (p.Asn1469=)
|
rs202231073
|
0.00026
|
|
NM_017617.5(NOTCH1):c.5638+19A>G
|
rs368675083
|
0.00026
|
|
NM_181486.4(TBX5):c.100G>T (p.Ala34Ser)
|
rs368311885
|
0.00025
|
|
NM_005585.5(SMAD6):c.1260C>T (p.Pro420=)
|
rs371930288
|
0.00024
|
|
NM_005585.5(SMAD6):c.224G>A (p.Arg75Gln)
|
rs373376338
|
0.00024
|
|
NM_017617.5(NOTCH1):c.1950C>T (p.Cys650=)
|
rs147086700
|
0.00024
|
|
NM_017617.5(NOTCH1):c.3114C>T (p.Asp1038=)
|
rs769755236
|
0.00024
|
|
NM_017617.5(NOTCH1):c.5189C>T (p.Pro1730Leu)
|
rs375897519
|
0.00024
|
|
NM_181486.4(TBX5):c.147+13C>A
|
rs201290379
|
0.00024
|
|
NM_181486.4(TBX5):c.318T>C (p.Ile106=)
|
rs141457646
|
0.00024
|
|
NM_005585.5(SMAD6):c.173C>G (p.Ser58Cys)
|
rs756752655
|
0.00023
|
|
NM_005585.5(SMAD6):c.240G>A (p.Ala80=)
|
rs937555039
|
0.00023
|
|
NM_005585.5(SMAD6):c.328C>T (p.Pro110Ser)
|
rs773431944
|
0.00023
|
|
NM_017617.5(NOTCH1):c.6975T>C (p.Pro2325=)
|
rs200814776
|
0.00023
|
|
NM_017617.5(NOTCH1):c.1956G>A (p.Ser652=)
|
rs376101458
|
0.00022
|
|
NM_017617.5(NOTCH1):c.3198G>A (p.Ser1066=)
|
rs199892488
|
0.00022
|
|
NM_017617.5(NOTCH1):c.2263_2265del (p.Asn755del)
|
rs587778559
|
0.00021
|
|
NM_017617.5(NOTCH1):c.2970-9C>T
|
rs568052902
|
0.00021
|
|
NM_017617.5(NOTCH1):c.6685G>A (p.Val2229Met)
|
rs202096917
|
0.00021
|
|
NM_017617.5(NOTCH1):c.7387G>A (p.Ala2463Thr)
|
rs537210445
|
0.00021
|
|
NM_080473.5(GATA5):c.1159C>T (p.Arg387Cys)
|
rs145205240
|
0.00021
|
|
NM_017617.5(NOTCH1):c.1787C>T (p.Thr596Met)
|
rs61755997
|
0.00020
|
|
NM_017617.5(NOTCH1):c.2433C>T (p.Ala811=)
|
rs61751552
|
0.00020
|
|
NM_017617.5(NOTCH1):c.7090A>G (p.Ser2364Gly)
|
rs201045092
|
0.00020
|
|
NM_017617.5(NOTCH1):c.2037C>T (p.Ile679=)
|
rs367591933
|
0.00019
|
|
NM_017617.5(NOTCH1):c.2353+13C>T
|
rs200756000
|
0.00019
|
|
NM_017617.5(NOTCH1):c.383G>A (p.Arg128His)
|
rs754086897
|
0.00019
|
|
NM_017617.5(NOTCH1):c.5384+14G>A
|
rs755122664
|
0.00019
|
|
NM_017617.5(NOTCH1):c.6082+10C>T
|
rs114120958
|
0.00019
|
|
NM_019055.6(ROBO4):c.190C>T (p.Arg64Cys)
|
rs201393279
|
0.00019
|
|
NM_181486.4(TBX5):c.600G>T (p.Ala200=)
|
rs139329918
|
0.00019
|
|
NM_181486.4(TBX5):c.68C>A (p.Pro23His)
|
rs141609745
|
0.00019
|
|
NM_005585.5(SMAD6):c.431C>T (p.Pro144Leu)
|
rs574652189
|
0.00018
|
|
NM_017617.5(NOTCH1):c.2218G>A (p.Asp740Asn)
|
rs200816814
|
0.00018
|
|
NM_017617.5(NOTCH1):c.3644-5C>T
|
rs371070297
|
0.00018
|
|
NM_181486.4(TBX5):c.510+13G>T
|
rs192482520
|
0.00018
|
|
NM_005585.5(SMAD6):c.636C>T (p.Asp212=)
|
rs575612166
|
0.00017
|
|
NM_017617.5(NOTCH1):c.1556-9C>T
|
rs150834418
|
0.00017
|
|
NM_017617.5(NOTCH1):c.2427C>T (p.Asp809=)
|
rs775162462
|
0.00017
|
|
NM_017617.5(NOTCH1):c.4095C>T (p.Ser1365=)
|
rs202023240
|
0.00017
|
|
NM_017617.5(NOTCH1):c.454G>A (p.Gly152Ser)
|
rs750242131
|
0.00017
|
|
NM_017617.5(NOTCH1):c.839A>G (p.Asn280Ser)
|
rs367825691
|
0.00017
|
|
NM_005585.5(SMAD6):c.998G>C (p.Ser333Thr)
|
rs199531653
|
0.00016
|
|
NM_017617.5(NOTCH1):c.1689C>T (p.Cys563=)
|
rs760548976
|
0.00016
|
|
NM_017617.5(NOTCH1):c.2148G>A (p.Glu716=)
|
rs376468003
|
0.00016
|
|
NM_017617.5(NOTCH1):c.2191C>T (p.Arg731Trp)
|
rs199666126
|
0.00016
|
|
NM_017617.5(NOTCH1):c.2718C>T (p.Thr906=)
|
rs200243788
|
0.00016
|
|
NM_017617.5(NOTCH1):c.3288G>C (p.Val1096=)
|
rs374944458
|
0.00016
|
|
NM_017617.5(NOTCH1):c.3511-11C>T
|
rs201280571
|
0.00016
|
|
NM_017617.5(NOTCH1):c.5385-18C>T
|
rs370602147
|
0.00016
|
|
NM_005585.5(SMAD6):c.956C>T (p.Ala319Val)
|
rs148705603
|
0.00015
|
|
NM_005585.5(SMAD6):c.973G>A (p.Ala325Thr)
|
rs199822239
|
0.00015
|
|
NM_017617.5(NOTCH1):c.2353+14G>A
|
rs140288481
|
0.00015
|
|
NM_017617.5(NOTCH1):c.4988G>A (p.Arg1663Gln)
|
rs749490844
|
0.00015
|
|
NM_017617.5(NOTCH1):c.591C>T (p.Asn197=)
|
rs370684825
|
0.00015
|
|
NM_017617.5(NOTCH1):c.6180+9G>A
|
rs200371378
|
0.00015
|
|
NM_181486.4(TBX5):c.1381G>A (p.Val461Met)
|
rs201152128
|
0.00015
|
|
NM_017617.5(NOTCH1):c.156C>T (p.Phe52=)
|
rs536299678
|
0.00014
|
|
NM_017617.5(NOTCH1):c.1670-19C>T
|
rs377686947
|
0.00014
|
|
NM_017617.5(NOTCH1):c.1914C>T (p.Cys638=)
|
rs373068883
|
0.00014
|
|
NM_017617.5(NOTCH1):c.2085C>T (p.Asp695=)
|
rs200573958
|
0.00014
|
|
NM_017617.5(NOTCH1):c.3597C>T (p.Leu1199=)
|
rs150666307
|
0.00014
|
|
NM_017617.5(NOTCH1):c.4905C>T (p.Ala1635=)
|
rs751446074
|
0.00014
|
|
NM_181486.4(TBX5):c.834T>C (p.Ser278=)
|
rs142609815
|
0.00014
|
|
NM_005585.5(SMAD6):c.194C>G (p.Pro65Arg)
|
rs990598927
|
0.00013
|
|
NM_005585.5(SMAD6):c.375C>T (p.Thr125=)
|
rs767379771
|
0.00013
|
|
NM_017617.5(NOTCH1):c.1699A>G (p.Ile567Val)
|
rs369067940
|
0.00013
|
|
NM_017617.5(NOTCH1):c.19C>T (p.Pro7Ser)
|
rs1397523469
|
0.00013
|
|
NM_017617.5(NOTCH1):c.851C>T (p.Pro284Leu)
|
rs376104770
|
0.00013
|
|
NM_005585.5(SMAD6):c.253C>T (p.Arg85Cys)
|
rs1056072996
|
0.00012
|
|
NM_005585.5(SMAD6):c.482C>T (p.Ala161Val)
|
rs748622672
|
0.00012
|
|
NM_017617.5(NOTCH1):c.1146C>T (p.Asn382=)
|
rs368665838
|
0.00012
|
|
NM_017617.5(NOTCH1):c.165G>A (p.Pro55=)
|
rs373793124
|
0.00012
|
|
NM_017617.5(NOTCH1):c.2805C>T (p.Pro935=)
|
rs200332386
|
0.00012
|
|
NM_017617.5(NOTCH1):c.2982C>T (p.Asn994=)
|
rs374100421
|
0.00012
|
|
NM_017617.5(NOTCH1):c.4179C>T (p.Gly1393=)
|
rs200664704
|
0.00012
|
|
NM_017617.5(NOTCH1):c.5676G>A (p.Gly1892=)
|
rs763584589
|
0.00012
|
|
NM_017617.5(NOTCH1):c.6568C>T (p.Leu2190=)
|
rs1037034230
|
0.00012
|
|
NM_005585.5(SMAD6):c.75C>T (p.Gly25=)
|
rs755856670
|
0.00011
|
|
NM_005585.5(SMAD6):c.908C>T (p.Thr303Met)
|
rs146363463
|
0.00011
|
|
NM_005585.5(SMAD6):c.91G>A (p.Gly31Ser)
|
rs770362322
|
0.00011
|
|
NM_017617.5(NOTCH1):c.1837C>T (p.Arg613Cys)
|
rs763988265
|
0.00011
|
|
NM_017617.5(NOTCH1):c.5273G>A (p.Arg1758His)
|
rs373841359
|
0.00011
|
|
NM_017617.5(NOTCH1):c.6057C>T (p.Ala2019=)
|
rs758702512
|
0.00011
|
|
NM_017617.5(NOTCH1):c.6938G>A (p.Arg2313Gln)
|
rs371069660
|
0.00011
|
|
NM_181486.4(TBX5):c.1151C>T (p.Ala384Val)
|
rs530882236
|
0.00011
|
|
NM_005585.5(SMAD6):c.141G>A (p.Pro47=)
|
rs1004603974
|
0.00010
|
|
NM_005585.5(SMAD6):c.277A>T (p.Met93Leu)
|
rs781686740
|
0.00010
|
|
NM_005585.5(SMAD6):c.610G>A (p.Gly204Ser)
|
rs746951925
|
0.00010
|
|
NM_017617.5(NOTCH1):c.1295C>T (p.Thr432Met)
|
rs200562991
|
0.00010
|
|
NM_017617.5(NOTCH1):c.1555+16G>A
|
rs368798926
|
0.00010
|
|
NM_017617.5(NOTCH1):c.1670-18G>A
|
rs375041394
|
0.00010
|
|
NM_017617.5(NOTCH1):c.2636G>A (p.Arg879Gln)
|
rs368011392
|
0.00010
|
|
NM_017617.5(NOTCH1):c.2969+14G>A
|
rs112192550
|
0.00010
|
|
NM_017617.5(NOTCH1):c.390G>A (p.Pro130=)
|
rs61751559
|
0.00010
|
|
NM_017617.5(NOTCH1):c.4372G>A (p.Ala1458Thr)
|
rs200495793
|
0.00010
|
|
NM_017617.5(NOTCH1):c.4537G>A (p.Gly1513Ser)
|
rs765844768
|
0.00010
|
|
NM_017617.5(NOTCH1):c.5414T>C (p.Leu1805Pro)
|
rs201779159
|
0.00010
|
|
NM_017617.5(NOTCH1):c.5631C>T (p.Arg1877=)
|
rs35627681
|
0.00010
|
|
NM_017617.5(NOTCH1):c.6744C>T (p.Asn2248=)
|
rs372771288
|
0.00010
|
|
NM_017617.5(NOTCH1):c.6788G>A (p.Arg2263Gln)
|
rs200521815
|
0.00010
|
|
NM_019055.6(ROBO4):c.1471C>T (p.Arg491Cys)
|
rs374471211
|
0.00010
|
|
NM_005585.5(SMAD6):c.1191C>T (p.Pro397=)
|
rs551875695
|
0.00009
|
|
NM_005585.5(SMAD6):c.405C>T (p.Ala135=)
|
rs538097406
|
0.00009
|
|
NM_005585.5(SMAD6):c.414C>T (p.Pro138=)
|
rs1352636701
|
0.00009
|
|
NM_017617.5(NOTCH1):c.3334G>A (p.Val1112Ile)
|
rs370696201
|
0.00009
|
|
NM_017617.5(NOTCH1):c.3966C>T (p.Cys1322=)
|
rs753290862
|
0.00009
|
|
NM_017617.5(NOTCH1):c.4157C>T (p.Pro1386Leu)
|
rs367710569
|
0.00009
|
|
NM_017617.5(NOTCH1):c.4296C>T (p.Phe1432=)
|
rs774697636
|
0.00009
|
|
NM_017617.5(NOTCH1):c.4586+10C>T
|
rs760225110
|
0.00009
|
|
NM_017617.5(NOTCH1):c.4652G>T (p.Ser1551Ile)
|
rs774068657
|
0.00009
|
|
NM_017617.5(NOTCH1):c.4860C>T (p.Tyr1620=)
|
rs375196212
|
0.00009
|
|
NM_017617.5(NOTCH1):c.5018+14G>A
|
rs936227030
|
0.00009
|
|
NM_017617.5(NOTCH1):c.5019-6G>A
|
rs978561896
|
0.00009
|
|
NM_017617.5(NOTCH1):c.527G>A (p.Arg176Gln)
|
rs375065108
|
0.00009
|
|
NM_017617.5(NOTCH1):c.6083-5C>T
|
rs199786076
|
0.00009
|
|
NM_019055.6(ROBO4):c.695C>T (p.Thr232Met)
|
rs150700978
|
0.00009
|
|
NM_181486.4(TBX5):c.1152G>A (p.Ala384=)
|
rs200073406
|
0.00009
|
|
NM_181486.4(TBX5):c.147+9A>T
|
rs375693592
|
0.00009
|
|
NM_005585.5(SMAD6):c.1297G>A (p.Gly433Ser)
|
rs373836386
|
0.00008
|
|
NM_005585.5(SMAD6):c.939G>A (p.Pro313=)
|
rs144403747
|
0.00008
|
|
NM_017617.5(NOTCH1):c.2724C>T (p.Ile908=)
|
rs61751547
|
0.00008
|
|
NM_017617.5(NOTCH1):c.4313G>A (p.Arg1438His)
|
rs61751541
|
0.00008
|
|
NM_017617.5(NOTCH1):c.4373C>T (p.Ala1458Val)
|
rs374352922
|
0.00008
|
|
NM_017617.5(NOTCH1):c.5018+13C>T
|
rs752508890
|
0.00008
|
|
NM_017617.5(NOTCH1):c.6083-4G>A
|
rs570242146
|
0.00008
|
|
NM_017617.5(NOTCH1):c.6714C>T (p.Pro2238=)
|
rs201499253
|
0.00008
|
|
NM_017617.5(NOTCH1):c.7313C>T (p.Pro2438Leu)
|
rs199777870
|
0.00008
|
|
NM_181486.4(TBX5):c.1233C>G (p.Thr411=)
|
rs188839350
|
0.00008
|
|
NM_005585.5(SMAD6):c.439G>A (p.Gly147Arg)
|
rs867644316
|
0.00007
|
|
NM_005585.5(SMAD6):c.687C>T (p.Leu229=)
|
rs531829825
|
0.00007
|
|
NM_005585.5(SMAD6):c.818-11C>T
|
rs766626508
|
0.00007
|
|
NM_005585.5(SMAD6):c.856G>A (p.Asp286Asn)
|
rs759918873
|
0.00007
|
|
NM_017617.5(NOTCH1):c.1682C>T (p.Thr561Met)
|
rs560030759
|
0.00007
|
|
NM_017617.5(NOTCH1):c.2014+16C>T
|
rs199814619
|
0.00007
|
|
NM_017617.5(NOTCH1):c.2207+15C>T
|
rs187086513
|
0.00007
|
|
NM_017617.5(NOTCH1):c.2784G>A (p.Thr928=)
|
rs200082362
|
0.00007
|
|
NM_017617.5(NOTCH1):c.3853G>A (p.Val1285Met)
|
rs756972680
|
0.00007
|
|
NM_017617.5(NOTCH1):c.4101G>A (p.Pro1367=)
|
rs374921637
|
0.00007
|
|
NM_017617.5(NOTCH1):c.4307C>T (p.Ala1436Val)
|
rs371303106
|
0.00007
|
|
NM_017617.5(NOTCH1):c.4506C>T (p.Asp1502=)
|
rs751191827
|
0.00007
|
|
NM_017617.5(NOTCH1):c.4551C>T (p.Asp1517=)
|
rs766737406
|
0.00007
|
|
NM_017617.5(NOTCH1):c.4795G>A (p.Val1599Met)
|
rs543770603
|
0.00007
|
|
NM_017617.5(NOTCH1):c.4809C>T (p.Asn1603=)
|
rs370523171
|
0.00007
|
|
NM_017617.5(NOTCH1):c.6283C>T (p.Arg2095Cys)
|
rs780873661
|
0.00007
|
|
NM_017617.5(NOTCH1):c.6583G>A (p.Gly2195Ser)
|
rs376422513
|
0.00007
|
|
NM_017617.5(NOTCH1):c.7397C>T (p.Thr2466Met)
|
rs369167555
|
0.00007
|
|
NM_181486.4(TBX5):c.1116G>A (p.Ser372=)
|
rs763827720
|
0.00007
|
|
NM_181486.4(TBX5):c.1162G>A (p.Glu388Lys)
|
rs139371720
|
0.00007
|
|
NM_181486.4(TBX5):c.1545C>T (p.Ser515=)
|
rs186780790
|
0.00007
|
|
NM_005585.5(SMAD6):c.158G>A (p.Gly53Glu)
|
rs955270050
|
0.00006
|
|
NM_005585.5(SMAD6):c.180C>G (p.Val60=)
|
rs981335329
|
0.00006
|
|
NM_005585.5(SMAD6):c.278T>C (p.Met93Thr)
|
rs985309653
|
0.00006
|
|
NM_005585.5(SMAD6):c.648C>G (p.Gly216=)
|
rs1035549645
|
0.00006
|
|
NM_005585.5(SMAD6):c.81C>T (p.Ser27=)
|
rs1167279905
|
0.00006
|
|
NM_005585.5(SMAD6):c.93T>C (p.Gly31=)
|
rs780659575
|
0.00006
|
|
NM_017617.5(NOTCH1):c.1510C>T (p.Arg504Cys)
|
rs752071569
|
0.00006
|
|
NM_017617.5(NOTCH1):c.2292C>T (p.Asn764=)
|
rs775201110
|
0.00006
|
|
NM_017617.5(NOTCH1):c.2588-16T>G
|
rs781139940
|
0.00006
|
|
NM_017617.5(NOTCH1):c.2640C>T (p.His880=)
|
rs374946182
|
0.00006
|
|
NM_017617.5(NOTCH1):c.2741-12G>A
|
rs370769571
|
0.00006
|
|
NM_017617.5(NOTCH1):c.2889C>T (p.Cys963=)
|
rs749585921
|
0.00006
|
|
NM_017617.5(NOTCH1):c.3001G>A (p.Gly1001Ser)
|
rs763621169
|
0.00006
|
|
NM_017617.5(NOTCH1):c.3270C>T (p.Thr1090=)
|
rs773990513
|
0.00006
|
|
NM_017617.5(NOTCH1):c.3271G>A (p.Gly1091Ser)
|
rs768095251
|
0.00006
|
|
NM_017617.5(NOTCH1):c.3338C>T (p.Ala1113Val)
|
rs377351349
|
0.00006
|
|
NM_017617.5(NOTCH1):c.3788G>A (p.Arg1263His)
|
rs377594681
|
0.00006
|
|
NM_017617.5(NOTCH1):c.404-13C>G
|
rs766360723
|
0.00006
|
|
NM_017617.5(NOTCH1):c.448G>A (p.Ala150Thr)
|
rs372660483
|
0.00006
|
|
NM_017617.5(NOTCH1):c.4718C>T (p.Thr1573Met)
|
rs573864607
|
0.00006
|
|
NM_017617.5(NOTCH1):c.5118C>T (p.Leu1706=)
|
rs747037396
|
0.00006
|
|
NM_017617.5(NOTCH1):c.558C>T (p.Pro186=)
|
rs756111268
|
0.00006
|
|
NM_017617.5(NOTCH1):c.5718G>A (p.Ala1906=)
|
rs369730620
|
0.00006
|
|
NM_017617.5(NOTCH1):c.5776C>T (p.Arg1926Cys)
|
rs199652954
|
0.00006
|
|
NM_017617.5(NOTCH1):c.5853C>T (p.Ser1951=)
|
rs373902356
|
0.00006
|
|
NM_017617.5(NOTCH1):c.6082+18C>T
|
rs200956958
|
0.00006
|
|
NM_017617.5(NOTCH1):c.6783C>T (p.Gly2261=)
|
rs749536941
|
0.00006
|
|
NM_017617.5(NOTCH1):c.6852C>T (p.Thr2284=)
|
rs777957099
|
0.00006
|
|
NM_017617.5(NOTCH1):c.6960G>A (p.Pro2320=)
|
rs768457106
|
0.00006
|
|
NM_017617.5(NOTCH1):c.7130C>T (p.Pro2377Leu)
|
rs761839390
|
0.00006
|
|
NM_017617.5(NOTCH1):c.7251G>A (p.Pro2417=)
|
rs368498380
|
0.00006
|
|
NM_017617.5(NOTCH1):c.7363A>G (p.Thr2455Ala)
|
rs536167222
|
0.00006
|
|
NM_017617.5(NOTCH1):c.7413G>A (p.Ser2471=)
|
rs367706382
|
0.00006
|
|
NM_017617.5(NOTCH1):c.7425C>T (p.Pro2475=)
|
rs772308416
|
0.00006
|
|
NM_017617.5(NOTCH1):c.975C>T (p.Asn325=)
|
rs746111102
|
0.00006
|
|
NM_019055.6(ROBO4):c.283G>A (p.Ala95Thr)
|
rs138370967
|
0.00006
|
|
NM_181486.4(TBX5):c.1293C>G (p.Thr431=)
|
rs143971376
|
0.00006
|
|
NM_181486.4(TBX5):c.1396G>A (p.Val466Met)
|
rs765443283
|
0.00006
|
|
NM_181486.4(TBX5):c.1476C>T (p.Gly492=)
|
rs369034176
|
0.00006
|
|
NM_181486.4(TBX5):c.204C>T (p.His68=)
|
rs375854421
|
0.00006
|
|
NM_181486.4(TBX5):c.786C>T (p.Thr262=)
|
rs375955080
|
0.00006
|
|
NM_005585.5(SMAD6):c.1137G>A (p.Ser379=)
|
rs1376483272
|
0.00005
|
|
NM_005585.5(SMAD6):c.841C>G (p.Arg281Gly)
|
rs200004068
|
0.00005
|
|
NM_005585.5(SMAD6):c.854G>A (p.Arg285His)
|
rs201098141
|
0.00005
|
|
NM_017617.5(NOTCH1):c.1125A>G (p.Ala375=)
|
rs371954544
|
0.00005
|
|
NM_017617.5(NOTCH1):c.1664C>T (p.Thr555Met)
|
rs746796894
|
0.00005
|
|
NM_017617.5(NOTCH1):c.1774C>T (p.Arg592Cys)
|
rs1472690723
|
0.00005
|
|
NM_017617.5(NOTCH1):c.2355T>C (p.Gly785=)
|
rs199719103
|
0.00005
|
|
NM_017617.5(NOTCH1):c.2388G>A (p.Ala796=)
|
rs561956078
|
0.00005
|
|
NM_017617.5(NOTCH1):c.2521G>A (p.Gly841Ser)
|
rs369259434
|
0.00005
|
|
NM_017617.5(NOTCH1):c.2783C>T (p.Thr928Met)
|
rs764921648
|
0.00005
|
|
NM_017617.5(NOTCH1):c.2908A>G (p.Thr970Ala)
|
rs201053795
|
0.00005
|
|
NM_017617.5(NOTCH1):c.3326-16A>T
|
rs374731388
|
0.00005
|
|
NM_017617.5(NOTCH1):c.3553G>A (p.Asp1185Asn)
|
rs548083258
|
0.00005
|
|
NM_017617.5(NOTCH1):c.4238G>A (p.Arg1413His)
|
rs371068504
|
0.00005
|
|
NM_017617.5(NOTCH1):c.4492A>G (p.Lys1498Glu)
|
rs745681787
|
0.00005
|
|
NM_017617.5(NOTCH1):c.4793G>A (p.Arg1598His)
|
rs755124691
|
0.00005
|
|
NM_017617.5(NOTCH1):c.5100C>T (p.Ala1700=)
|
rs376495459
|
0.00005
|
|
NM_017617.5(NOTCH1):c.5248G>A (p.Val1750Met)
|
rs368396893
|
0.00005
|
|
NM_017617.5(NOTCH1):c.6205G>A (p.Ala2069Thr)
|
rs567909904
|
0.00005
|
|
NM_017617.5(NOTCH1):c.7016C>A (p.Ala2339Asp)
|
rs773134608
|
0.00005
|
|
NM_017617.5(NOTCH1):c.7356G>A (p.Ala2452=)
|
rs781520893
|
0.00005
|
|
NM_017617.5(NOTCH1):c.743-4G>T
|
rs748001079
|
0.00005
|
|
NM_017617.5(NOTCH1):c.963C>T (p.Cys321=)
|
rs201158068
|
0.00005
|
|
NM_181486.4(TBX5):c.1273C>A (p.His425Asn)
|
rs755152246
|
0.00005
|
|
NM_181486.4(TBX5):c.848C>A (p.Thr283Asn)
|
rs147077037
|
0.00005
|
|
NM_002474.3(MYH11):c.3560C>T (p.Thr1187Met)
|
rs552818350
|
0.00004
|
|
NM_005585.5(SMAD6):c.1206C>G (p.Ala402=)
|
rs565415984
|
0.00004
|
|
NM_005585.5(SMAD6):c.1276G>A (p.Val426Ile)
|
rs376580255
|
0.00004
|
|
NM_005585.5(SMAD6):c.316G>A (p.Asp106Asn)
|
rs981951560
|
0.00004
|
|
NM_005585.5(SMAD6):c.35G>A (p.Arg12Gln)
|
rs946785791
|
0.00004
|
|
NM_005585.5(SMAD6):c.715G>A (p.Val239Met)
|
rs768794005
|
0.00004
|
|
NM_005585.5(SMAD6):c.776T>C (p.Val259Ala)
|
rs1049275389
|
0.00004
|
|
NM_005585.5(SMAD6):c.853C>T (p.Arg285Cys)
|
rs749741980
|
0.00004
|
|
NM_005585.5(SMAD6):c.855C>T (p.Arg285=)
|
rs774721819
|
0.00004
|
|
NM_005585.5(SMAD6):c.859G>A (p.Glu287Lys)
|
rs570279865
|
0.00004
|
|
NM_005585.5(SMAD6):c.938C>T (p.Pro313Leu)
|
rs748388661
|
0.00004
|
|
NM_017617.5(NOTCH1):c.1272G>A (p.Glu424=)
|
rs377342874
|
0.00004
|
|
NM_017617.5(NOTCH1):c.1670-10C>T
|
rs751747178
|
0.00004
|
|
NM_017617.5(NOTCH1):c.1869C>T (p.Asn623=)
|
rs376726823
|
0.00004
|
|
NM_017617.5(NOTCH1):c.1903+10C>G
|
rs375704312
|
0.00004
|
|
NM_017617.5(NOTCH1):c.2002C>G (p.Pro668Ala)
|
rs780810308
|
0.00004
|
|
NM_017617.5(NOTCH1):c.2576C>T (p.Thr859Met)
|
rs199505287
|
0.00004
|
|
NM_017617.5(NOTCH1):c.2728G>A (p.Asp910Asn)
|
rs765293859
|
0.00004
|
|
NM_017617.5(NOTCH1):c.2772C>T (p.Asp924=)
|
rs762732089
|
0.00004
|
|
NM_017617.5(NOTCH1):c.2868C>T (p.Asn956=)
|
rs760227470
|
0.00004
|
|
NM_017617.5(NOTCH1):c.3121G>A (p.Gly1041Ser)
|
rs375260339
|
0.00004
|
|
NM_017617.5(NOTCH1):c.3374C>T (p.Ala1125Val)
|
rs200871631
|
0.00004
|
|
NM_017617.5(NOTCH1):c.3905G>A (p.Arg1302His)
|
rs762091081
|
0.00004
|
|
NM_017617.5(NOTCH1):c.3918C>T (p.Ser1306=)
|
rs770781173
|
0.00004
|
|
NM_017617.5(NOTCH1):c.3980A>G (p.Asn1327Ser)
|
rs751874720
|
0.00004
|
|
NM_017617.5(NOTCH1):c.4143C>T (p.Pro1381=)
|
rs539950718
|
0.00004
|
|
NM_017617.5(NOTCH1):c.4185C>T (p.Asn1395=)
|
rs749570626
|
0.00004
|
|
NM_017617.5(NOTCH1):c.4344G>A (p.Ala1448=)
|
rs763497791
|
0.00004
|
|
NM_017617.5(NOTCH1):c.4467C>T (p.Asn1489=)
|
rs773323801
|
0.00004
|
|
NM_017617.5(NOTCH1):c.4572G>A (p.Ala1524=)
|
rs745794855
|
0.00004
|
|
NM_017617.5(NOTCH1):c.4800G>A (p.Leu1600=)
|
rs761609069
|
0.00004
|
|
NM_017617.5(NOTCH1):c.5017G>A (p.Gly1673Ser)
|
rs1226514285
|
0.00004
|
|
NM_017617.5(NOTCH1):c.5070G>A (p.Ser1690=)
|
rs370200858
|
0.00004
|
|
NM_017617.5(NOTCH1):c.5416A>G (p.Met1806Val)
|
rs114479009
|
0.00004
|
|
NM_017617.5(NOTCH1):c.5421C>T (p.Asp1807=)
|
rs376590737
|
0.00004
|
|
NM_017617.5(NOTCH1):c.5542C>A (p.Leu1848Met)
|
rs35652719
|
0.00004
|
|
NM_017617.5(NOTCH1):c.5550C>T (p.Ala1850=)
|
rs374451515
|
0.00004
|
|
NM_017617.5(NOTCH1):c.5715C>T (p.Asp1905=)
|
rs748200129
|
0.00004
|
|
NM_017617.5(NOTCH1):c.5724C>T (p.Ala1908=)
|
rs555773558
|
0.00004
|
|
NM_017617.5(NOTCH1):c.573C>T (p.His191=)
|
rs763733336
|
0.00004
|
|
NM_017617.5(NOTCH1):c.597C>T (p.Val199=)
|
rs747342494
|
0.00004
|
|
NM_017617.5(NOTCH1):c.6120T>C (p.Asn2040=)
|
rs201625763
|
0.00004
|
|
NM_017617.5(NOTCH1):c.6150C>T (p.Asn2050=)
|
rs757372588
|
0.00004
|
|
NM_017617.5(NOTCH1):c.6222C>T (p.Tyr2074=)
|
rs764551640
|
0.00004
|
|
NM_017617.5(NOTCH1):c.6383C>T (p.Pro2128Leu)
|
rs770713134
|
0.00004
|
|
NM_017617.5(NOTCH1):c.6521A>G (p.Lys2174Arg)
|
rs761602495
|
0.00004
|
|
NM_017617.5(NOTCH1):c.6577A>G (p.Ser2193Gly)
|
rs1060502236
|
0.00004
|
|
NM_017617.5(NOTCH1):c.6822C>A (p.Ser2274=)
|
rs754675254
|
0.00004
|
|
NM_017617.5(NOTCH1):c.7203C>T (p.Asn2401=)
|
rs756434740
|
0.00004
|
|
NM_017617.5(NOTCH1):c.7386C>T (p.Pro2462=)
|
rs369470875
|
0.00004
|
|
NM_017617.5(NOTCH1):c.7498C>G (p.His2500Asp)
|
rs763902589
|
0.00004
|
|
NM_017617.5(NOTCH1):c.7569G>A (p.Ser2523=)
|
rs534623042
|
0.00004
|
|
NM_019055.6(ROBO4):c.1702C>T (p.Arg568Ter)
|
rs201492213
|
0.00004
|
|
NM_181486.4(TBX5):c.1064G>A (p.Arg355His)
|
rs145784562
|
0.00004
|
|
NM_181486.4(TBX5):c.1425C>G (p.Gly475=)
|
rs199729532
|
0.00004
|
|
NM_181486.4(TBX5):c.1443C>T (p.Thr481=)
|
rs137928706
|
0.00004
|
|
NM_181486.4(TBX5):c.1477G>A (p.Val493Met)
|
rs556197042
|
0.00004
|
|
NM_181486.4(TBX5):c.15C>T (p.Asp5=)
|
rs767487291
|
0.00004
|
|
NM_181486.4(TBX5):c.576T>C (p.Asn192=)
|
rs201212120
|
0.00004
|
|
NM_181486.4(TBX5):c.639A>G (p.Ala213=)
|
rs149274578
|
0.00004
|
|
NM_181486.4(TBX5):c.791G>A (p.Arg264Lys)
|
rs201071418
|
0.00004
|
|
NM_005585.5(SMAD6):c.1000G>C (p.Val334Leu)
|
rs772926628
|
0.00003
|
|
NM_005585.5(SMAD6):c.1173C>T (p.Ile391=)
|
rs1215677844
|
0.00003
|
|
NM_005585.5(SMAD6):c.134C>G (p.Pro45Arg)
|
rs1027280912
|
0.00003
|
|
NM_005585.5(SMAD6):c.1365C>T (p.Ala455=)
|
rs1351701797
|
0.00003
|
|
NM_005585.5(SMAD6):c.399C>T (p.Asp133=)
|
rs760472203
|
0.00003
|
|
NM_005585.5(SMAD6):c.573G>C (p.Leu191=)
|
rs778199794
|
0.00003
|
|
NM_005585.5(SMAD6):c.643C>T (p.Leu215=)
|
rs1416518211
|
0.00003
|
|
NM_005585.5(SMAD6):c.698C>T (p.Pro233Leu)
|
rs764453720
|
0.00003
|
|
NM_005585.5(SMAD6):c.814C>T (p.Pro272Ser)
|
rs781458675
|
0.00003
|
|
NM_014462.3(LSM1):c.231+4A>C
|
rs775468919
|
0.00003
|
|
NM_017617.5(NOTCH1):c.114A>G (p.Glu38=)
|
rs375506915
|
0.00003
|
|
NM_017617.5(NOTCH1):c.1262A>G (p.Asn421Ser)
|
rs928512979
|
0.00003
|
|
NM_017617.5(NOTCH1):c.1446C>T (p.Tyr482=)
|
rs757373430
|
0.00003
|
|
NM_017617.5(NOTCH1):c.1543G>C (p.Glu515Gln)
|
rs749085650
|
0.00003
|
|
NM_017617.5(NOTCH1):c.1747G>A (p.Gly583Ser)
|
rs757066417
|
0.00003
|
|
NM_017617.5(NOTCH1):c.2003C>T (p.Pro668Leu)
|
rs576030298
|
0.00003
|
|
NM_017617.5(NOTCH1):c.210C>T (p.Asn70=)
|
rs763414200
|
0.00003
|
|
NM_017617.5(NOTCH1):c.2442G>A (p.Lys814=)
|
rs544653892
|
0.00003
|
|
NM_017617.5(NOTCH1):c.2458C>T (p.Pro820Ser)
|
rs1379596542
|
0.00003
|
|
NM_017617.5(NOTCH1):c.2520C>T (p.Asn840=)
|
rs546222078
|
0.00003
|
|
NM_017617.5(NOTCH1):c.2588-5C>T
|
rs764684418
|
0.00003
|
|
NM_017617.5(NOTCH1):c.3012G>A (p.Ser1004=)
|
rs371301397
|
0.00003
|
|
NM_017617.5(NOTCH1):c.3171+12G>A
|
rs753242532
|
0.00003
|
|
NM_017617.5(NOTCH1):c.3341G>A (p.Arg1114His)
|
rs777684045
|
0.00003
|
|
NM_017617.5(NOTCH1):c.3405G>A (p.Ala1135=)
|
rs192914380
|
0.00003
|
|
NM_017617.5(NOTCH1):c.3510+3G>A
|
rs372739350
|
0.00003
|
|
NM_017617.5(NOTCH1):c.3643+17G>A
|
rs376187570
|
0.00003
|
|
NM_017617.5(NOTCH1):c.3644-17G>A
|
rs139960251
|
0.00003
|
|
NM_017617.5(NOTCH1):c.3664G>A (p.Val1222Met)
|
rs112900950
|
0.00003
|
|
NM_017617.5(NOTCH1):c.3860G>A (p.Arg1287His)
|
rs763679772
|
0.00003
|
|
NM_017617.5(NOTCH1):c.3901+10G>A
|
rs561404862
|
0.00003
|
|
NM_017617.5(NOTCH1):c.4013C>T (p.Ala1338Val)
|
rs1397249771
|
0.00003
|
|
NM_017617.5(NOTCH1):c.4015-7C>T
|
rs761783451
|
0.00003
|
|
NM_017617.5(NOTCH1):c.4077C>T (p.Asn1359=)
|
rs775108554
|
0.00003
|
|
NM_017617.5(NOTCH1):c.4078G>A (p.Gly1360Ser)
|
rs769493139
|
0.00003
|
|
NM_017617.5(NOTCH1):c.411G>A (p.Ser137=)
|
rs560826996
|
0.00003
|
|
NM_017617.5(NOTCH1):c.4315G>A (p.Asp1439Asn)
|
rs200232299
|
0.00003
|
|
NM_017617.5(NOTCH1):c.4713C>T (p.Ala1571=)
|
rs377357743
|
0.00003
|
|
NM_017617.5(NOTCH1):c.500C>T (p.Pro167Leu)
|
rs370951369
|
0.00003
|
|
NM_017617.5(NOTCH1):c.5014C>T (p.Arg1672Cys)
|
rs745901158
|
0.00003
|
|
NM_017617.5(NOTCH1):c.5103A>G (p.Ala1701=)
|
rs776610176
|
0.00003
|
|
NM_017617.5(NOTCH1):c.5422G>A (p.Asp1808Asn)
|
rs571739078
|
0.00003
|
|
NM_017617.5(NOTCH1):c.5733C>T (p.Ser1911=)
|
rs61751534
|
0.00003
|
|
NM_017617.5(NOTCH1):c.5892G>A (p.Pro1964=)
|
rs769135138
|
0.00003
|
|
NM_017617.5(NOTCH1):c.6130G>A (p.Ala2044Thr)
|
rs544856644
|
0.00003
|
|
NM_017617.5(NOTCH1):c.621C>T (p.Arg207=)
|
rs756164624
|
0.00003
|
|
NM_017617.5(NOTCH1):c.6294C>T (p.Arg2098=)
|
rs777111928
|
0.00003
|
|
NM_017617.5(NOTCH1):c.6481C>T (p.Pro2161Ser)
|
rs201518848
|
0.00003
|
|
NM_017617.5(NOTCH1):c.6753C>T (p.Ala2251=)
|
rs542875894
|
0.00003
|
|
NM_017617.5(NOTCH1):c.7017C>T (p.Ala2339=)
|
rs1342843228
|
0.00003
|
|
NM_017617.5(NOTCH1):c.7115G>A (p.Arg2372Gln)
|
rs373119531
|
0.00003
|
|
NM_017617.5(NOTCH1):c.7279G>A (p.Gly2427Ser)
|
rs370722609
|
0.00003
|
|
NM_017617.5(NOTCH1):c.7541_7542del (p.Pro2514fs)
|
rs763016003
|
0.00003
|
|
NM_019055.6(ROBO4):c.839A>C (p.Tyr280Ser)
|
rs755747435
|
0.00003
|
|
NM_030777.4(SLC2A10):c.929C>T (p.Ser310Phe)
|
rs763521707
|
0.00003
|
|
NM_181486.4(TBX5):c.1113G>A (p.Glu371=)
|
rs757158327
|
0.00003
|
|
NM_181486.4(TBX5):c.1123C>T (p.Arg375Trp)
|
rs377532269
|
0.00003
|
|
NM_181486.4(TBX5):c.1242C>T (p.Thr414=)
|
rs370133092
|
0.00003
|
|
NM_181486.4(TBX5):c.16G>A (p.Glu6Lys)
|
rs145365553
|
0.00003
|
|
NM_181486.4(TBX5):c.242+9G>T
|
rs186666277
|
0.00003
|
|
NM_181486.4(TBX5):c.276G>C (p.Thr92=)
|
rs773971213
|
0.00003
|
|
NM_181486.4(TBX5):c.293C>T (p.Thr98Met)
|
rs772844823
|
0.00003
|
|
NM_181486.4(TBX5):c.363-6A>G
|
rs757819289
|
0.00003
|
|
NM_181486.4(TBX5):c.57A>G (p.Ala19=)
|
rs567785340
|
0.00003
|
|
NM_181486.4(TBX5):c.895G>A (p.Gly299Ser)
|
rs201637366
|
0.00003
|
|
NM_005585.5(SMAD6):c.106G>A (p.Asp36Asn)
|
rs773308777
|
0.00002
|
|
NM_005585.5(SMAD6):c.1348C>T (p.Pro450Ser)
|
rs369864879
|
0.00002
|
|
NM_005585.5(SMAD6):c.135G>A (p.Pro45=)
|
rs868172579
|
0.00002
|
|
NM_005585.5(SMAD6):c.1445C>G (p.Thr482Ser)
|
rs1239470869
|
0.00002
|
|
NM_005585.5(SMAD6):c.1489T>C (p.Ter497Gln)
|
rs932383465
|
0.00002
|
|
NM_005585.5(SMAD6):c.235G>T (p.Gly79Cys)
|
rs1318237027
|
0.00002
|
|
NM_005585.5(SMAD6):c.245G>A (p.Arg82Lys)
|
rs1433506461
|
0.00002
|
|
NM_005585.5(SMAD6):c.257C>T (p.Ala86Val)
|
rs1235267213
|
0.00002
|
|
NM_005585.5(SMAD6):c.618G>A (p.Val206=)
|
rs776635009
|
0.00002
|
|
NM_005585.5(SMAD6):c.80G>A (p.Ser27Asn)
|
rs1448725205
|
0.00002
|
|
NM_005585.5(SMAD6):c.816C>G (p.Pro272=)
|
rs748073570
|
0.00002
|
|
NM_005585.5(SMAD6):c.817+17G>A
|
rs770785932
|
0.00002
|
|
NM_005585.5(SMAD6):c.833C>T (p.Pro278Leu)
|
rs372082813
|
0.00002
|
|
NM_005585.5(SMAD6):c.967C>T (p.Pro323Ser)
|
rs1292983568
|
0.00002
|
|
NM_006849.4(PDIA2):c.383G>A (p.Arg128His)
|
rs373590123
|
0.00002
|
|
NM_017617.5(NOTCH1):c.1250C>T (p.Ser417Leu)
|
rs757631575
|
0.00002
|
|
NM_017617.5(NOTCH1):c.1256-15G>A
|
rs200086842
|
0.00002
|
|
NM_017617.5(NOTCH1):c.1357G>A (p.Val453Ile)
|
rs761629787
|
0.00002
|
|
NM_017617.5(NOTCH1):c.1731C>T (p.Tyr577=)
|
rs377472138
|
0.00002
|
|
NM_017617.5(NOTCH1):c.1749C>T (p.Gly583=)
|
rs751367001
|
0.00002
|
|
NM_017617.5(NOTCH1):c.1953C>T (p.Asp651=)
|
rs752168856
|
0.00002
|
|
NM_017617.5(NOTCH1):c.2068G>A (p.Gly690Arg)
|
rs764112977
|
0.00002
|
|
NM_017617.5(NOTCH1):c.2112C>T (p.Cys704=)
|
rs757495549
|
0.00002
|
|
NM_017617.5(NOTCH1):c.2297G>T (p.Gly766Val)
|
rs374434131
|
0.00002
|
|
NM_017617.5(NOTCH1):c.2917G>A (p.Ala973Thr)
|
rs200699541
|
0.00002
|
|
NM_017617.5(NOTCH1):c.2937C>T (p.His979=)
|
rs1406216361
|
0.00002
|
|
NM_017617.5(NOTCH1):c.3099C>T (p.Gly1033=)
|
rs775567314
|
0.00002
|
|
NM_017617.5(NOTCH1):c.3171+8C>T
|
rs985717588
|
0.00002
|
|
NM_017617.5(NOTCH1):c.3172-12A>G
|
rs547259185
|
0.00002
|
|
NM_017617.5(NOTCH1):c.3701G>A (p.Arg1234Gln)
|
rs773926521
|
0.00002
|
|
NM_017617.5(NOTCH1):c.3861C>T (p.Arg1287=)
|
rs758031388
|
0.00002
|
|
NM_017617.5(NOTCH1):c.4326G>A (p.Pro1442=)
|
rs376469653
|
0.00002
|
|
NM_017617.5(NOTCH1):c.4348G>A (p.Glu1450Lys)
|
rs147841035
|
0.00002
|
|
NM_017617.5(NOTCH1):c.4746G>A (p.Pro1582=)
|
rs886038974
|
0.00002
|
|
NM_017617.5(NOTCH1):c.5023A>G (p.Ile1675Val)
|
rs375408767
|
0.00002
|
|
NM_017617.5(NOTCH1):c.5069C>T (p.Ser1690Leu)
|
rs552065719
|
0.00002
|
|
NM_017617.5(NOTCH1):c.5398G>A (p.Ala1800Thr)
|
rs569203312
|
0.00002
|
|
NM_017617.5(NOTCH1):c.5916C>T (p.Asp1972=)
|
rs1045892978
|
0.00002
|
|
NM_017617.5(NOTCH1):c.6054C>T (p.His2018=)
|
rs202198360
|
0.00002
|
|
NM_017617.5(NOTCH1):c.6069C>T (p.Ala2023=)
|
rs375920679
|
0.00002
|
|
NM_017617.5(NOTCH1):c.6083-10T>G
|
rs1380449680
|
0.00002
|
|
NM_017617.5(NOTCH1):c.6228C>T (p.Thr2076=)
|
rs531156367
|
0.00002
|
|
NM_017617.5(NOTCH1):c.6321C>T (p.His2107=)
|
rs532201830
|
0.00002
|
|
NM_017617.5(NOTCH1):c.6366G>A (p.Pro2122=)
|
rs762003410
|
0.00002
|
|
NM_017617.5(NOTCH1):c.6749C>T (p.Ala2250Val)
|
rs777809068
|
0.00002
|
|
NM_017617.5(NOTCH1):c.6814C>T (p.Arg2272Cys)
|
rs752505638
|
0.00002
|
|
NM_017617.5(NOTCH1):c.6979C>T (p.Arg2327Trp)
|
rs751007903
|
0.00002
|
|
NM_017617.5(NOTCH1):c.7372C>A (p.Pro2458Thr)
|
rs752802795
|
0.00002
|
|
NM_017617.5(NOTCH1):c.775G>A (p.Asp259Asn)
|
rs763187824
|
0.00002
|
|
NM_017617.5(NOTCH1):c.823G>A (p.Gly275Ser)
|
rs371333249
|
0.00002
|
|
NM_181486.4(TBX5):c.1493C>A (p.Ser498Tyr)
|
rs1474068722
|
0.00002
|
|
NM_181486.4(TBX5):c.465C>T (p.Phe155=)
|
rs778977800
|
0.00002
|
|
NM_181486.4(TBX5):c.612C>T (p.His204=)
|
rs200326827
|
0.00002
|
|
NM_181486.4(TBX5):c.669G>A (p.Thr223=)
|
rs376519728
|
0.00002
|
|
NM_181486.4(TBX5):c.965A>G (p.His322Arg)
|
rs759009256
|
0.00002
|
|
NM_001077653.2(TBX20):c.533C>T (p.Pro178Leu)
|
rs760169368
|
0.00001
|
|
NM_005585.5(SMAD6):c.1006T>C (p.Tyr336His)
|
rs1894552779
|
0.00001
|
|
NM_005585.5(SMAD6):c.1022C>T (p.Thr341Met)
|
rs151259317
|
0.00001
|
|
NM_005585.5(SMAD6):c.1057G>A (p.Ala353Thr)
|
rs1315294969
|
0.00001
|
|
NM_005585.5(SMAD6):c.1080A>T (p.Leu360=)
|
rs773981348
|
0.00001
|
|
NM_005585.5(SMAD6):c.1146A>C (p.Arg382=)
|
rs755122573
|
0.00001
|
|
NM_005585.5(SMAD6):c.1161C>T (p.Ile387=)
|
rs777669717
|
0.00001
|
|
NM_005585.5(SMAD6):c.1194C>T (p.Asp398=)
|
rs777092566
|
0.00001
|
|
NM_005585.5(SMAD6):c.1215C>G (p.Arg405=)
|
rs899021608
|
0.00001
|
|
NM_005585.5(SMAD6):c.1224C>G (p.His408Gln)
|
rs1381118550
|
0.00001
|
|
NM_005585.5(SMAD6):c.1225C>T (p.Pro409Ser)
|
rs757027884
|
0.00001
|
|
NM_005585.5(SMAD6):c.1257G>A (p.Ala419=)
|
rs771448780
|
0.00001
|
|
NM_005585.5(SMAD6):c.1271C>T (p.Ala424Val)
|
rs371348775
|
0.00001
|
|
NM_005585.5(SMAD6):c.1294C>G (p.Pro432Ala)
|
rs758115595
|
0.00001
|
|
NM_005585.5(SMAD6):c.1346C>T (p.Ala449Val)
|
rs1186486223
|
0.00001
|
|
NM_005585.5(SMAD6):c.1347G>T (p.Ala449=)
|
rs764124420
|
0.00001
|
|
NM_005585.5(SMAD6):c.1377C>G (p.Tyr459Ter)
|
rs1290060451
|
0.00001
|
|
NM_005585.5(SMAD6):c.1393C>T (p.Arg465Cys)
|
rs761888345
|
0.00001
|
|
NM_005585.5(SMAD6):c.1401C>T (p.Ser467=)
|
rs1303185082
|
0.00001
|
|
NM_005585.5(SMAD6):c.192C>T (p.Ala64=)
|
rs1242699041
|
0.00001
|
|
NM_005585.5(SMAD6):c.202C>T (p.Pro68Ser)
|
rs1235974469
|
0.00001
|
|
NM_005585.5(SMAD6):c.25C>T (p.Leu9=)
|
rs1055162146
|
0.00001
|
|
NM_005585.5(SMAD6):c.267C>T (p.Pro89=)
|
rs896888252
|
0.00001
|
|
NM_005585.5(SMAD6):c.279G>A (p.Met93Ile)
|
rs1595756752
|
0.00001
|
|
NM_005585.5(SMAD6):c.286C>T (p.Pro96Ser)
|
rs1299231742
|
0.00001
|
|
NM_005585.5(SMAD6):c.299C>T (p.Ala100Val)
|
rs1893029511
|
0.00001
|
|
NM_005585.5(SMAD6):c.34C>T (p.Arg12Ter)
|
rs1241989233
|
0.00001
|
|
NM_005585.5(SMAD6):c.351C>T (p.Pro117=)
|
rs770962715
|
0.00001
|
|
NM_005585.5(SMAD6):c.374C>T (p.Thr125Ile)
|
rs759468399
|
0.00001
|
|
NM_005585.5(SMAD6):c.384C>T (p.Leu128=)
|
rs752593472
|
0.00001
|
|
NM_005585.5(SMAD6):c.388T>C (p.Ser130Pro)
|
rs1893032616
|
0.00001
|
|
NM_005585.5(SMAD6):c.411G>C (p.Ala137=)
|
rs1555434217
|
0.00001
|
|
NM_005585.5(SMAD6):c.434T>C (p.Leu145Pro)
|
rs1011931265
|
0.00001
|
|
NM_005585.5(SMAD6):c.469C>T (p.Arg157Trp)
|
rs1239750015
|
0.00001
|
|
NM_005585.5(SMAD6):c.472A>G (p.Ser158Gly)
|
rs1327929414
|
0.00001
|
|
NM_005585.5(SMAD6):c.477C>G (p.Arg159=)
|
rs1278854033
|
0.00001
|
|
NM_005585.5(SMAD6):c.484C>T (p.Arg162Cys)
|
rs1337307419
|
0.00001
|
|
NM_005585.5(SMAD6):c.502C>T (p.Leu168=)
|
rs1465389619
|
0.00001
|
|
NM_005585.5(SMAD6):c.528G>C (p.Thr176=)
|
rs1315861259
|
0.00001
|
|
NM_005585.5(SMAD6):c.53T>G (p.Val18Gly)
|
rs1221430921
|
0.00001
|
|
NM_005585.5(SMAD6):c.598G>A (p.Gly200Ser)
|
rs1039327779
|
0.00001
|
|
NM_005585.5(SMAD6):c.606G>A (p.Pro202=)
|
rs892811980
|
0.00001
|
|
NM_005585.5(SMAD6):c.642C>G (p.Arg214=)
|
rs1392322147
|
0.00001
|
|
NM_005585.5(SMAD6):c.667C>T (p.Gln223Ter)
|
rs1064793003
|
0.00001
|
|
NM_005585.5(SMAD6):c.696G>A (p.Trp232Ter)
|
rs759094719
|
0.00001
|
|
NM_005585.5(SMAD6):c.728C>T (p.Pro243Leu)
|
rs946670694
|
0.00001
|
|
NM_005585.5(SMAD6):c.72A>G (p.Glu24=)
|
rs922540858
|
0.00001
|
|
NM_005585.5(SMAD6):c.730C>T (p.Leu244=)
|
rs1042398681
|
0.00001
|
|
NM_005585.5(SMAD6):c.731T>C (p.Leu244Pro)
|
rs1457962668
|
0.00001
|
|
NM_005585.5(SMAD6):c.765C>T (p.Asp255=)
|
rs1375800482
|
0.00001
|
|
NM_005585.5(SMAD6):c.768C>G (p.Gly256=)
|
rs770427556
|
0.00001
|
|
NM_005585.5(SMAD6):c.82G>A (p.Gly28Ser)
|
rs868114319
|
0.00001
|
|
NM_005585.5(SMAD6):c.851C>T (p.Pro284Leu)
|
rs150101601
|
0.00001
|
|
NM_005585.5(SMAD6):c.872T>C (p.Leu291Pro)
|
rs768096418
|
0.00001
|
|
NM_005585.5(SMAD6):c.874+8T>C
|
rs780559917
|
0.00001
|
|
NM_005585.5(SMAD6):c.875-10C>T
|
rs1006453758
|
0.00001
|
|
NM_005585.5(SMAD6):c.882C>T (p.Ser294=)
|
rs769894803
|
0.00001
|
|
NM_005585.5(SMAD6):c.883G>A (p.Asp295Asn)
|
rs773338089
|
0.00001
|
|
NM_005585.5(SMAD6):c.887C>T (p.Ser296Phe)
|
rs200374822
|
0.00001
|
|
NM_005585.5(SMAD6):c.891A>G (p.Thr297=)
|
rs759799681
|
0.00001
|
|
NM_005585.5(SMAD6):c.8G>A (p.Arg3Lys)
|
rs1337502697
|
0.00001
|
|
NM_005585.5(SMAD6):c.921C>A (p.Asn307Lys)
|
rs191287350
|
0.00001
|
|
NM_005585.5(SMAD6):c.952+8T>C
|
rs749303894
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1000G>A (p.Glu334Lys)
|
rs779061035
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1094G>A (p.Arg365His)
|
rs775991013
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1099+9C>T
|
rs1057523772
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1205C>T (p.Ser402Leu)
|
rs1037236860
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1220C>T (p.Pro407Leu)
|
rs754529382
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1237G>A (p.Val413Met)
|
rs373770404
|
0.00001
|
|
NM_017617.5(NOTCH1):c.123T>C (p.Asn41=)
|
rs1207676067
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1278G>A (p.Ala426=)
|
rs781782610
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1335G>A (p.Thr445=)
|
rs564566136
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1407C>T (p.Asp469=)
|
rs1405995623
|
0.00001
|
|
NM_017617.5(NOTCH1):c.157G>A (p.Val53Met)
|
rs757497167
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1581C>T (p.Tyr527=)
|
rs1299929890
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1582G>A (p.Asp528Asn)
|
rs757988142
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1676C>T (p.Thr559Met)
|
rs376055493
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1750G>A (p.Val584Ile)
|
rs763886355
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1760T>A (p.Phe587Tyr)
|
rs771440130
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1775G>A (p.Arg592His)
|
rs544117297
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1778C>T (p.Pro593Leu)
|
rs886039014
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1788G>A (p.Thr596=)
|
rs925293836
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1815C>T (p.Asn605=)
|
rs781029850
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1924C>G (p.Leu642Val)
|
rs755740633
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1929T>C (p.Asp643=)
|
rs527323201
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1972A>G (p.Lys658Glu)
|
rs1260932753
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1977C>A (p.Ile659=)
|
rs766577980
|
0.00001
|
|
NM_017617.5(NOTCH1):c.2021T>C (p.Met674Thr)
|
rs587782970
|
0.00001
|
|
NM_017617.5(NOTCH1):c.2074A>G (p.Thr692Ala)
|
rs1385815860
|
0.00001
|
|
NM_017617.5(NOTCH1):c.2127C>T (p.His709=)
|
rs755898711
|
0.00001
|
|
NM_017617.5(NOTCH1):c.2128G>A (p.Asp710Asn)
|
rs950236535
|
0.00001
|
|
NM_017617.5(NOTCH1):c.2175C>T (p.Cys725=)
|
rs770313470
|
0.00001
|
|
NM_017617.5(NOTCH1):c.2207+5G>A
|
rs1214619547
|
0.00001
|
|
NM_017617.5(NOTCH1):c.244G>A (p.Val82Met)
|
rs571831870
|
0.00001
|
|
NM_017617.5(NOTCH1):c.2510C>G (p.Pro837Arg)
|
rs777663026
|
0.00001
|
|
NM_017617.5(NOTCH1):c.2605G>A (p.Asp869Asn)
|
rs1420968156
|
0.00001
|
|
NM_017617.5(NOTCH1):c.2644G>A (p.Ala882Thr)
|
rs767886377
|
0.00001
|
|
NM_017617.5(NOTCH1):c.2735G>A (p.Arg912Gln)
|
rs773185855
|
0.00001
|
|
NM_017617.5(NOTCH1):c.2745G>A (p.Pro915=)
|
rs766331471
|
0.00001
|
|
NM_017617.5(NOTCH1):c.2753A>G (p.Asn918Ser)
|
rs367586502
|
0.00001
|
|
NM_017617.5(NOTCH1):c.2882C>T (p.Thr961Met)
|
rs377343669
|
0.00001
|
|
NM_017617.5(NOTCH1):c.2916C>T (p.Pro972=)
|
rs754724517
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3095A>G (p.His1032Arg)
|
rs1397562033
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3211G>A (p.Gly1071Ser)
|
rs587778566
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3350A>G (p.Gln1117Arg)
|
rs764816819
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3404C>T (p.Ala1135Val)
|
rs370300490
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3441C>T (p.Asp1147=)
|
rs377488165
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3482C>T (p.Thr1161Met)
|
rs769903954
|
0.00001
|
|
NM_017617.5(NOTCH1):c.351C>T (p.Cys117=)
|
rs768642611
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3569A>G (p.His1190Arg)
|
rs775438678
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3631C>T (p.Arg1211Trp)
|
rs766644919
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3632G>A (p.Arg1211Gln)
|
rs756362905
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3643+10G>A
|
rs1159458812
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3663C>T (p.Asn1221=)
|
rs780527525
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3684C>T (p.Pro1228=)
|
rs753711100
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3694G>A (p.Val1232Met)
|
rs750169914
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3723C>T (p.Asn1241=)
|
rs369637862
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3908G>A (p.Arg1303His)
|
rs768775024
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3954T>A (p.Asn1318Lys)
|
rs754634957
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3988C>T (p.Arg1330Cys)
|
rs1249540119
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3991G>A (p.Gly1331Arg)
|
rs769908800
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4010C>G (p.Pro1337Arg)
|
rs1043832212
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4024G>A (p.Gly1342Ser)
|
rs748933222
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4066C>T (p.Arg1356Cys)
|
rs587778567
|
0.00001
|
|
NM_017617.5(NOTCH1):c.408A>G (p.Lys136=)
|
rs769259782
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4263C>T (p.Asn1421=)
|
rs547687521
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4271T>C (p.Leu1424Ser)
|
rs954507677
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4309G>A (p.Gly1437Arg)
|
rs780500109
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4410C>T (p.His1470=)
|
rs750183248
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4428C>T (p.Gly1476=)
|
rs765751888
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4451A>G (p.Asn1484Ser)
|
rs759828439
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4472C>T (p.Thr1491Met)
|
rs369915496
|
0.00001
|
|
NM_017617.5(NOTCH1):c.452A>G (p.Asn151Ser)
|
rs766362765
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4568G>A (p.Arg1523His)
|
rs367589813
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4571C>T (p.Ala1524Val)
|
rs774374213
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4588C>T (p.Pro1530Ser)
|
rs750808945
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4655C>T (p.Ala1552Val)
|
rs748862853
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4710G>A (p.Ala1570=)
|
rs773978978
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4717A>G (p.Thr1573Ala)
|
rs762492041
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4719G>A (p.Thr1573=)
|
rs775105774
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4742C>T (p.Pro1581Leu)
|
rs746431035
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4865G>A (p.Arg1622His)
|
rs778271353
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4880G>A (p.Arg1627His)
|
rs946083212
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4952C>T (p.Ser1651Leu)
|
rs1243453790
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5092G>A (p.Asp1698Asn)
|
rs1417478070
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5160C>T (p.Ala1720=)
|
rs780625273
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5168-5C>T
|
rs757370134
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5184G>A (p.Pro1728=)
|
rs760548371
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5284C>T (p.Arg1762Trp)
|
rs1356199208
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5413C>T (p.Leu1805Phe)
|
rs775497405
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5452C>G (p.Leu1818Val)
|
rs1064796983
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5492T>C (p.Leu1831Pro)
|
rs1085307869
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5495C>G (p.Pro1832Arg)
|
rs1425070721
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5560C>T (p.Arg1854Cys)
|
rs376689092
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5572A>C (p.Met1858Leu)
|
rs779337715
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5595T>A (p.Gly1865=)
|
rs767493892
|
0.00001
|
|
NM_017617.5(NOTCH1):c.559G>A (p.Gly187Arg)
|
rs750295442
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5674G>A (p.Gly1892Arg)
|
rs761427888
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5690C>T (p.Thr1897Met)
|
rs746237272
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5784C>T (p.Gly1928=)
|
rs773571672
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5805C>T (p.Ala1935=)
|
rs774693459
|
0.00001
|
|
NM_017617.5(NOTCH1):c.581C>T (p.Thr194Ile)
|
rs760005580
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5972G>A (p.Arg1991His)
|
rs1371022203
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5981A>G (p.Asp1994Gly)
|
rs1454512890
|
0.00001
|
|
NM_017617.5(NOTCH1):c.6058G>A (p.Asp2020Asn)
|
rs752928106
|
0.00001
|
|
NM_017617.5(NOTCH1):c.6204C>T (p.Ala2068=)
|
rs767118276
|
0.00001
|
|
NM_017617.5(NOTCH1):c.6223G>A (p.Glu2075Lys)
|
rs549258808
|
0.00001
|
|
NM_017617.5(NOTCH1):c.6260G>A (p.Arg2087Gln)
|
rs768543030
|
0.00001
|
|
NM_017617.5(NOTCH1):c.632C>G (p.Thr211Ser)
|
rs1401319182
|
0.00001
|
|
NM_017617.5(NOTCH1):c.6408G>A (p.Ser2136=)
|
rs933773128
|
0.00001
|
|
NM_017617.5(NOTCH1):c.6422C>T (p.Ser2141Leu)
|
rs767822693
|
0.00001
|
|
NM_017617.5(NOTCH1):c.6453C>T (p.Pro2151=)
|
rs377302245
|
0.00001
|
|
NM_017617.5(NOTCH1):c.6582C>T (p.Ser2194=)
|
rs200853719
|
0.00001
|
|
NM_017617.5(NOTCH1):c.6593C>T (p.Ser2198Leu)
|
rs761562076
|
0.00001
|
|
NM_017617.5(NOTCH1):c.6743A>C (p.Asn2248Thr)
|
rs1554826464
|
0.00001
|
|
NM_017617.5(NOTCH1):c.6745G>A (p.Val2249Met)
|
rs369457922
|
0.00001
|
|
NM_017617.5(NOTCH1):c.674C>G (p.Ser225Trp)
|
rs553542677
|
0.00001
|
|
NM_017617.5(NOTCH1):c.6781G>T (p.Gly2261Cys)
|
rs768817065
|
0.00001
|
|
NM_017617.5(NOTCH1):c.6789G>C (p.Arg2263=)
|
rs1367699274
|
0.00001
|
|
NM_017617.5(NOTCH1):c.687C>T (p.Asn229=)
|
rs535217359
|
0.00001
|
|
NM_017617.5(NOTCH1):c.6895G>A (p.Gly2299Ser)
|
rs1020747496
|
0.00001
|
|
NM_017617.5(NOTCH1):c.7033G>A (p.Gly2345Ser)
|
rs1325758824
|
0.00001
|
|
NM_017617.5(NOTCH1):c.7047G>A (p.Pro2349=)
|
rs775336930
|
0.00001
|
|
NM_017617.5(NOTCH1):c.7075C>T (p.Leu2359=)
|
rs374362224
|
0.00001
|
|
NM_017617.5(NOTCH1):c.707C>T (p.Thr236Met)
|
rs537766290
|
0.00001
|
|
NM_017617.5(NOTCH1):c.7128G>T (p.Gln2376His)
|
rs369935287
|
0.00001
|
|
NM_017617.5(NOTCH1):c.7138G>A (p.Val2380Met)
|
rs769693988
|
0.00001
|
|
NM_017617.5(NOTCH1):c.7150C>G (p.Gln2384Glu)
|
rs375119074
|
0.00001
|
|
NM_017617.5(NOTCH1):c.7157A>G (p.Gln2386Arg)
|
rs746658493
|
0.00001
|
|
NM_017617.5(NOTCH1):c.7189C>T (p.Leu2397=)
|
rs374789141
|
0.00001
|
|
NM_017617.5(NOTCH1):c.7291C>T (p.Arg2431Trp)
|
rs758410389
|
0.00001
|
|
NM_017617.5(NOTCH1):c.743-14C>T
|
rs536768165
|
0.00001
|
|
NM_017617.5(NOTCH1):c.751G>A (p.Gly251Ser)
|
rs755667439
|
0.00001
|
|
NM_017617.5(NOTCH1):c.7545G>T (p.Glu2515Asp)
|
rs1365732147
|
0.00001
|
|
NM_017617.5(NOTCH1):c.7568C>T (p.Ser2523Leu)
|
rs1554826328
|
0.00001
|
|
NM_017617.5(NOTCH1):c.7642G>A (p.Ala2548Thr)
|
rs761156723
|
0.00001
|
|
NM_017617.5(NOTCH1):c.826G>A (p.Val276Met)
|
rs369721921
|
0.00001
|
|
NM_017617.5(NOTCH1):c.949G>A (p.Gly317Ser)
|
rs749696049
|
0.00001
|
|
NM_019055.6(ROBO4):c.1864G>C (p.Asp622His)
|
rs138111911
|
0.00001
|
|
NM_181486.4(TBX5):c.1084C>G (p.Gln362Glu)
|
rs765204502
|
0.00001
|
|
NM_181486.4(TBX5):c.1124G>A (p.Arg375Gln)
|
rs1486871388
|
0.00001
|
|
NM_181486.4(TBX5):c.1199C>T (p.Thr400Met)
|
rs759766836
|
0.00001
|
|
NM_181486.4(TBX5):c.1208G>A (p.Ser403Asn)
|
rs773568096
|
0.00001
|
|
NM_181486.4(TBX5):c.125C>T (p.Pro42Leu)
|
rs759976245
|
0.00001
|
|
NM_181486.4(TBX5):c.1289T>C (p.Phe430Ser)
|
rs1396124456
|
0.00001
|
|
NM_181486.4(TBX5):c.1302C>T (p.Pro434=)
|
rs1231034401
|
0.00001
|
|
NM_181486.4(TBX5):c.1313G>A (p.Arg438Gln)
|
rs557758851
|
0.00001
|
|
NM_181486.4(TBX5):c.1322G>A (p.Gly441Asp)
|
rs1203543672
|
0.00001
|
|
NM_181486.4(TBX5):c.1343C>T (p.Pro448Leu)
|
rs772790458
|
0.00001
|
|
NM_181486.4(TBX5):c.1348C>G (p.Leu450Val)
|
rs1243477560
|
0.00001
|
|
NM_181486.4(TBX5):c.1380C>T (p.Ser460=)
|
rs575162861
|
0.00001
|
|
NM_181486.4(TBX5):c.1413G>A (p.Gly471=)
|
rs764756835
|
0.00001
|
|
NM_181486.4(TBX5):c.1449G>A (p.Gln483=)
|
rs117965596
|
0.00001
|
|
NM_181486.4(TBX5):c.322C>T (p.Pro108Ser)
|
rs376621016
|
0.00001
|
|
NM_181486.4(TBX5):c.327C>T (p.Ala109=)
|
rs749667596
|
0.00001
|
|
NM_181486.4(TBX5):c.456C>T (p.Leu152=)
|
rs775748269
|
0.00001
|
|
NM_181486.4(TBX5):c.54C>A (p.Asp18Glu)
|
rs1479545982
|
0.00001
|
|
NM_181486.4(TBX5):c.579A>G (p.Gly193=)
|
rs967802452
|
0.00001
|
|
NM_181486.4(TBX5):c.664-14C>T
|
rs751285432
|
0.00001
|
|
NM_181486.4(TBX5):c.710G>A (p.Arg237Gln)
|
rs104894378
|
0.00001
|
|
NM_181486.4(TBX5):c.729G>T (p.Glu243Asp)
|
rs186183947
|
0.00001
|
|
NM_181486.4(TBX5):c.732G>T (p.Leu244=)
|
rs769541948
|
0.00001
|
|
NM_181486.4(TBX5):c.768C>T (p.Pro256=)
|
rs370805715
|
0.00001
|
|
NM_181486.4(TBX5):c.769G>A (p.Val257Met)
|
rs200382742
|
0.00001
|
|
NM_181486.4(TBX5):c.781A>T (p.Ser261Cys)
|
rs377625550
|
0.00001
|
|
NM_181486.4(TBX5):c.902C>G (p.Ser301Cys)
|
rs973621936
|
0.00001
|
|
NM_181486.4(TBX5):c.950A>G (p.His317Arg)
|
rs1869524074
|
0.00001
|
|
46;XY;t(1;5)(p35.3;q31.3)dn
|
|
|
|
GRCh37/hg19 13q22.1(chr13:74152544-74283131)
|
|
|
|
GRCh37/hg19 15q22.31-22.33(chr15:66825594-67400490)
|
|
|
|
GRCh37/hg19 16p13.11-12.3(chr16:16633361-16688008)
|
|
|
|
GRCh37/hg19 19p12(chr19:20834979-20987550)
|
|
|
|
GRCh37/hg19 19p13.2(chr19:8213468-8227432)
|
|
|
|
GRCh37/hg19 1q42.13(chr1:228297613-228703236)
|
|
|
|
GRCh37/hg19 22q11.21(chr22:18844632-19008108)
|
|
|
|
GRCh37/hg19 7p14.3-14.2(chr7:34920075-35212065)
|
|
|
|
NC_000012.11:g.(?_114793317)_(114841723_?)del
|
|
|
|
NC_000012.11:g.(?_114793327)_(114793921_?)del
|
|
|
|
NC_000012.11:g.(?_114793337)_(114793931_?)dup
|
|
|
|
NC_000012.11:g.(?_114793337)_(114837457_?)del
|
|
|
|
NC_000012.11:g.(?_114793337)_(115121005_?)dup
|
|
|
|
NC_000012.11:g.(?_114803950)_(114804216_?)dup
|
|
|
|
NC_000012.11:g.(?_114803950)_(114823392_?)dup
|
|
|
|
NC_000012.11:g.(?_114823261)_(114823392_?)del
|
|
|
|
NC_000012.11:g.(?_114823261)_(114841703_?)dup
|
|
|
|
NC_000012.11:g.(?_114837390)_(114846189_?)del
|
|
|
|
NC_000012.12:g.(?_114394721)_(114394913_?)del
|
|
|
|
NC_000012.12:g.(?_114401806)_(114401940_?)del
|
|
|
|
NC_000012.12:g.(?_114401816)_(114401930_?)del
|
|
|
|
NC_000015.10:g.(?_66703239)_(67066380_?)del
|
|
|
|
NC_012920.1(MT-ATP6):m.8950G>A
|
rs1556423574
|
|
|
NC_012920.1:m.8420_8421insATA
|
rs1569484208
|
|
|
NC_012920.1:m.8751_8752insAAA
|
rs1569484234
|
|
|
NM_000093.5(COL5A1):c.514G>T (p.Val172Phe)
|
rs150147262
|
|
|
NM_001077653.2(TBX20):c.117C>G (p.Ile39Met)
|
rs1562569196
|
|
|
NM_001077653.2(TBX20):c.374C>A (p.Ser125Ter)
|
rs766692577
|
|
|
NM_001077653.2(TBX20):c.527A>C (p.Asp176Ala)
|
rs201782046
|
|
|
NM_001292034.3(TAB2):c.1039C>T (p.Arg347Ter)
|
rs1057518422
|
|
|
NM_001942.4(DSG1):c.604G>T (p.Glu202Ter)
|
rs1057518788
|
|
|
NM_004415.4(DSP):c.2528C>A (p.Ser843Ter)
|
rs1057518920
|
|
|
NM_005585.5(SMAD6):c.1004C>A (p.Ala335Glu)
|
rs900988907
|
|
|
NM_005585.5(SMAD6):c.1005G>A (p.Ala335=)
|
|
|
|
NM_005585.5(SMAD6):c.1009T>A (p.Trp337Arg)
|
|
|
|
NM_005585.5(SMAD6):c.1014G>C (p.Glu338Asp)
|
rs2140681200
|
|
|
NM_005585.5(SMAD6):c.1014G>T (p.Glu338Asp)
|
|
|
|
NM_005585.5(SMAD6):c.1016A>T (p.His339Leu)
|
|
|
|
NM_005585.5(SMAD6):c.1021A>G (p.Thr341Ala)
|
|
|
|
NM_005585.5(SMAD6):c.1025G>A (p.Arg342His)
|
|
|
|
NM_005585.5(SMAD6):c.102C>T (p.Asp34=)
|
rs1197212804
|
|
|
NM_005585.5(SMAD6):c.1031G>T (p.Gly344Val)
|
rs2140681275
|
|
|
NM_005585.5(SMAD6):c.1040del (p.Tyr347fs)
|
rs1894554603
|
|
|
NM_005585.5(SMAD6):c.1041_1042del (p.Ala348fs)
|
rs1894554671
|
|
|
NM_005585.5(SMAD6):c.1041_1044del (p.Leu346_Tyr347insTer)
|
|
|
|
NM_005585.5(SMAD6):c.104A>G (p.Glu35Gly)
|
|
|
|
NM_005585.5(SMAD6):c.1050C>G (p.Tyr350Ter)
|
rs200493039
|
|
|
NM_005585.5(SMAD6):c.1050C>T (p.Tyr350=)
|
|
|
|
NM_005585.5(SMAD6):c.1051dup (p.Asp351fs)
|
|
|
|
NM_005585.5(SMAD6):c.1053C>T (p.Asp351=)
|
rs1166776083
|
|
|
NM_005585.5(SMAD6):c.1054C>A (p.Gln352Lys)
|
|
|
|
NM_005585.5(SMAD6):c.1055_1056insAT (p.Ala353fs)
|
rs2140681355
|
|
|
NM_005585.5(SMAD6):c.1059C>T (p.Ala353=)
|
|
|
|
NM_005585.5(SMAD6):c.1066A>G (p.Ile356Val)
|
|
|
|
NM_005585.5(SMAD6):c.1068C>T (p.Ile356=)
|
|
|
|
NM_005585.5(SMAD6):c.106G>T (p.Asp36Tyr)
|
rs773308777
|
|
|
NM_005585.5(SMAD6):c.1075G>C (p.Asp359His)
|
rs1595804836
|
|
|
NM_005585.5(SMAD6):c.1078C>G (p.Leu360Val)
|
|
|
|
NM_005585.5(SMAD6):c.107A>C (p.Asp36Ala)
|
|
|
|
NM_005585.5(SMAD6):c.107A>G (p.Asp36Gly)
|
rs763029325
|
|
|
NM_005585.5(SMAD6):c.107_128dup (p.Glu44fs)
|
|
|
|
NM_005585.5(SMAD6):c.1090del (p.Ser364fs)
|
rs2140681457
|
|
|
NM_005585.5(SMAD6):c.1093G>T (p.Gly365Cys)
|
rs1176080464
|
|
|
NM_005585.5(SMAD6):c.1101C>T (p.Cys367=)
|
|
|
|
NM_005585.5(SMAD6):c.1102C>G (p.Leu368Val)
|
rs1555440081
|
|
|
NM_005585.5(SMAD6):c.1103T>C (p.Leu368Pro)
|
|
|
|
NM_005585.5(SMAD6):c.1105G>A (p.Gly369Ser)
|
rs1294873185
|
|
|
NM_005585.5(SMAD6):c.1118T>C (p.Leu373Pro)
|
rs947145210
|
|
|
NM_005585.5(SMAD6):c.1119G>C (p.Leu373=)
|
|
|
|
NM_005585.5(SMAD6):c.1125G>A (p.Gln375=)
|
|
|
|
NM_005585.5(SMAD6):c.1127G>A (p.Arg376His)
|
|
|
|
NM_005585.5(SMAD6):c.1132G>A (p.Glu378Lys)
|
|
|
|
NM_005585.5(SMAD6):c.1141C>G (p.Arg381Gly)
|
|
|
|
NM_005585.5(SMAD6):c.1144C>T (p.Arg382Ter)
|
|
|
|
NM_005585.5(SMAD6):c.114C>G (p.Ser38Arg)
|
|
|
|
NM_005585.5(SMAD6):c.1154G>A (p.Ser385Asn)
|
rs1555440093
|
|
|
NM_005585.5(SMAD6):c.1157A>G (p.Lys386Arg)
|
|
|
|
NM_005585.5(SMAD6):c.1158G>T (p.Lys386Asn)
|
|
|
|
NM_005585.5(SMAD6):c.1168_1173dup (p.Gly390_Ile391dup)
|
rs1595804976
|
|
|
NM_005585.5(SMAD6):c.1169G>T (p.Gly390Val)
|
|
|
|
NM_005585.5(SMAD6):c.1172T>A (p.Ile391Asn)
|
|
|
|
NM_005585.5(SMAD6):c.1175T>C (p.Leu392Pro)
|
rs1265396527
|
|
|
NM_005585.5(SMAD6):c.1178T>C (p.Leu393Pro)
|
|
|
|
NM_005585.5(SMAD6):c.1182C>G (p.Ser394Arg)
|
rs2140681716
|
|
|
NM_005585.5(SMAD6):c.1183A>T (p.Lys395Ter)
|
|
|
|
NM_005585.5(SMAD6):c.1195G>T (p.Gly399Cys)
|
|
|
|
NM_005585.5(SMAD6):c.1198G>C (p.Val400Leu)
|
|
|
|
NM_005585.5(SMAD6):c.1198G>T (p.Val400Leu)
|
|
|
|
NM_005585.5(SMAD6):c.1199T>A (p.Val400Glu)
|
rs2140681753
|
|
|
NM_005585.5(SMAD6):c.1200_1391del (p.Trp401_Val464del)
|
|
|
|
NM_005585.5(SMAD6):c.120C>A (p.Gly40=)
|
rs149612008
|
|
|
NM_005585.5(SMAD6):c.120C>T (p.Gly40=)
|
rs149612008
|
|
|
NM_005585.5(SMAD6):c.1210A>G (p.Asn404Asp)
|
|
|
|
NM_005585.5(SMAD6):c.1211A>G (p.Asn404Ser)
|
|
|
|
NM_005585.5(SMAD6):c.1216G>A (p.Gly406Ser)
|
|
|
|
NM_005585.5(SMAD6):c.1216G>T (p.Gly406Cys)
|
rs539298543
|
|
|
NM_005585.5(SMAD6):c.1236C>T (p.Val412=)
|
|
|
|
NM_005585.5(SMAD6):c.1242C>G (p.Ser414=)
|
rs1469006490
|
|
|
NM_005585.5(SMAD6):c.1244C>T (p.Pro415Leu)
|
rs387907284
|
|
|
NM_005585.5(SMAD6):c.1245G>A (p.Pro415=)
|
|
|
|
NM_005585.5(SMAD6):c.124C>T (p.Arg42Ter)
|
rs1447391811
|
|
|
NM_005585.5(SMAD6):c.1255G>A (p.Ala419Thr)
|
rs900897541
|
|
|
NM_005585.5(SMAD6):c.125G>A (p.Arg42Gln)
|
rs1270837180
|
|
|
NM_005585.5(SMAD6):c.1261G>A (p.Gly421Ser)
|
|
|
|
NM_005585.5(SMAD6):c.1263C>T (p.Gly421=)
|
|
|
|
NM_005585.5(SMAD6):c.1273dup (p.Leu425fs)
|
rs2140682011
|
|
|
NM_005585.5(SMAD6):c.1278C>A (p.Val426=)
|
rs1375981080
|
|
|
NM_005585.5(SMAD6):c.1278C>T (p.Val426=)
|
|
|
|
NM_005585.5(SMAD6):c.1279G>T (p.Val427Leu)
|
|
|
|
NM_005585.5(SMAD6):c.127G>C (p.Ala43Pro)
|
|
|
|
NM_005585.5(SMAD6):c.1294C>T (p.Pro432Ser)
|
|
|
|
NM_005585.5(SMAD6):c.1295C>A (p.Pro432His)
|
|
|
|
NM_005585.5(SMAD6):c.1296dup (p.Gly433fs)
|
rs751440011
|
|
|
NM_005585.5(SMAD6):c.1299C>G (p.Gly433=)
|
|
|
|
NM_005585.5(SMAD6):c.12C>T (p.Ser4=)
|
|
|
|
NM_005585.5(SMAD6):c.1300T>C (p.Tyr434His)
|
|
|
|
NM_005585.5(SMAD6):c.1305_1306del (p.Ile436fs)
|
|
|
|
NM_005585.5(SMAD6):c.1311G>A (p.Lys437=)
|
|
|
|
NM_005585.5(SMAD6):c.1321T>C (p.Phe441Leu)
|
rs993487814
|
|
|
NM_005585.5(SMAD6):c.1323dup (p.Glu442fs)
|
rs1894568566
|
|
|
NM_005585.5(SMAD6):c.1324G>A (p.Glu442Lys)
|
rs778302338
|
|
|
NM_005585.5(SMAD6):c.1324G>C (p.Glu442Gln)
|
|
|
|
NM_005585.5(SMAD6):c.1324del (p.Glu442fs)
|
|
|
|
NM_005585.5(SMAD6):c.1328G>C (p.Arg443Pro)
|
rs554980660
|
|
|
NM_005585.5(SMAD6):c.1347_1348del (p.Pro450fs)
|
|
|
|
NM_005585.5(SMAD6):c.1348C>A (p.Pro450Thr)
|
rs369864879
|
|
|
NM_005585.5(SMAD6):c.1350C>T (p.Pro450=)
|
|
|
|
NM_005585.5(SMAD6):c.135G>C (p.Pro45=)
|
rs868172579
|
|
|
NM_005585.5(SMAD6):c.1360G>A (p.Ala454Thr)
|
rs754474911
|
|
|
NM_005585.5(SMAD6):c.1360G>C (p.Ala454Pro)
|
|
|
|
NM_005585.5(SMAD6):c.1362C>T (p.Ala454=)
|
rs749785381
|
|
|
NM_005585.5(SMAD6):c.1363G>A (p.Ala455Thr)
|
|
|
|
NM_005585.5(SMAD6):c.1373C>G (p.Pro458Arg)
|
rs746188996
|
|
|
NM_005585.5(SMAD6):c.1375T>A (p.Tyr459Asn)
|
|
|
|
NM_005585.5(SMAD6):c.1378del (p.Asp460fs)
|
|
|
|
NM_005585.5(SMAD6):c.137C>T (p.Ala46Val)
|
rs2140580758
|
|
|
NM_005585.5(SMAD6):c.1383dup (p.Asn462fs)
|
|
|
|
NM_005585.5(SMAD6):c.1389C>T (p.Ser463=)
|
|
|
|
NM_005585.5(SMAD6):c.1391T>C (p.Val464Ala)
|
|
|
|
NM_005585.5(SMAD6):c.1395_1404del (p.Ile466fs)
|
rs2140682369
|
|
|
NM_005585.5(SMAD6):c.1396A>C (p.Ile466Leu)
|
|
|
|
NM_005585.5(SMAD6):c.1403T>C (p.Phe468Ser)
|
rs1182669434
|
|
|
NM_005585.5(SMAD6):c.1405G>C (p.Ala469Pro)
|
rs1416212959
|
|
|
NM_005585.5(SMAD6):c.1408A>C (p.Lys470Gln)
|
|
|
|
NM_005585.5(SMAD6):c.140C>T (p.Pro47Leu)
|
|
|
|
NM_005585.5(SMAD6):c.1412_1413delinsT (p.Gly471fs)
|
rs1567116253
|
|
|
NM_005585.5(SMAD6):c.1417G>C (p.Gly473Arg)
|
rs2140682417
|
|
|
NM_005585.5(SMAD6):c.142C>T (p.Arg48Trp)
|
|
|
|
NM_005585.5(SMAD6):c.1435C>T (p.Gln479Ter)
|
|
|
|
NM_005585.5(SMAD6):c.1440dup (p.Ile481fs)
|
|
|
|
NM_005585.5(SMAD6):c.1447T>A (p.Ser483Thr)
|
rs1894575580
|
|
|
NM_005585.5(SMAD6):c.1450T>C (p.Cys484Arg)
|
rs1894575710
|
|
|
NM_005585.5(SMAD6):c.1451G>T (p.Cys484Phe)
|
rs387907283
|
|
|
NM_005585.5(SMAD6):c.1453C>T (p.Pro485Ser)
|
|
|
|
NM_005585.5(SMAD6):c.1465G>A (p.Glu489Lys)
|
|
|
|
NM_005585.5(SMAD6):c.1465G>T (p.Glu489Ter)
|
|
|
|
NM_005585.5(SMAD6):c.1479C>T (p.Asn493=)
|
|
|
|
NM_005585.5(SMAD6):c.1481A>C (p.Asn494Thr)
|
|
|
|
NM_005585.5(SMAD6):c.1488del (p.Arg496fs)
|
rs2140682691
|
|
|
NM_005585.5(SMAD6):c.1489T>G (p.Ter497Glu)
|
|
|
|
NM_005585.5(SMAD6):c.148A>T (p.Arg50Ter)
|
|
|
|
NM_005585.5(SMAD6):c.153G>A (p.Glu51=)
|
|
|
|
NM_005585.5(SMAD6):c.153G>C (p.Glu51Asp)
|
|
|
|
NM_005585.5(SMAD6):c.157G>A (p.Gly53Arg)
|
rs1325349483
|
|
|
NM_005585.5(SMAD6):c.157G>T (p.Gly53Ter)
|
|
|
|
NM_005585.5(SMAD6):c.161G>C (p.Gly54Ala)
|
|
|
|
NM_005585.5(SMAD6):c.161G>T (p.Gly54Val)
|
|
|
|
NM_005585.5(SMAD6):c.168C>T (p.Gly56=)
|
|
|
|
NM_005585.5(SMAD6):c.169C>A (p.Arg57Ser)
|
|
|
|
NM_005585.5(SMAD6):c.16C>T (p.Arg6Cys)
|
rs762143900
|
|
|
NM_005585.5(SMAD6):c.170_171delinsTT (p.Arg57Leu)
|
rs1595756540
|
|
|
NM_005585.5(SMAD6):c.171C>G (p.Arg57=)
|
rs753456441
|
|
|
NM_005585.5(SMAD6):c.172T>C (p.Ser58Pro)
|
|
|
|
NM_005585.5(SMAD6):c.178G>A (p.Val60Ile)
|
rs1298929102
|
|
|
NM_005585.5(SMAD6):c.178G>T (p.Val60Phe)
|
|
|
|
NM_005585.5(SMAD6):c.182G>C (p.Arg61Pro)
|
rs1306731976
|
|
|
NM_005585.5(SMAD6):c.187G>A (p.Val63Ile)
|
rs1595756583
|
|
|
NM_005585.5(SMAD6):c.18C>G (p.Arg6=)
|
|
|
|
NM_005585.5(SMAD6):c.18_22dup (p.Gly8fs)
|
|
|
|
NM_005585.5(SMAD6):c.192C>G (p.Ala64=)
|
rs1242699041
|
|
|
NM_005585.5(SMAD6):c.19T>C (p.Ser7Pro)
|
rs1448375284
|
|
|
NM_005585.5(SMAD6):c.1A>G (p.Met1Val)
|
|
|
|
NM_005585.5(SMAD6):c.201G>A (p.Arg67=)
|
rs2140580891
|
|
|
NM_005585.5(SMAD6):c.204C>T (p.Pro68=)
|
|
|
|
NM_005585.5(SMAD6):c.208G>A (p.Asp70Asn)
|
|
|
|
NM_005585.5(SMAD6):c.20C>A (p.Ser7Ter)
|
|
|
|
NM_005585.5(SMAD6):c.210C>T (p.Asp70=)
|
|
|
|
NM_005585.5(SMAD6):c.21G>A (p.Ser7=)
|
rs2140580360
|
|
|
NM_005585.5(SMAD6):c.220C>T (p.Gln74Ter)
|
rs1567091382
|
|
|
NM_005585.5(SMAD6):c.222G>C (p.Gln74His)
|
|
|
|
NM_005585.5(SMAD6):c.223C>T (p.Arg75Ter)
|
rs1595756640
|
|
|
NM_005585.5(SMAD6):c.232_250del (p.Gln78fs)
|
rs965061234
|
|
|
NM_005585.5(SMAD6):c.232_250dup (p.Arg84fs)
|
rs965061234
|
|
|
NM_005585.5(SMAD6):c.239C>T (p.Ala80Val)
|
rs1555434180
|
|
|
NM_005585.5(SMAD6):c.240G>C (p.Ala80=)
|
|
|
|
NM_005585.5(SMAD6):c.240_264del (p.Gly81fs)
|
|
|
|
NM_005585.5(SMAD6):c.247C>G (p.Arg83Gly)
|
rs1301285133
|
|
|
NM_005585.5(SMAD6):c.249C>G (p.Arg83=)
|
|
|
|
NM_005585.5(SMAD6):c.249C>T (p.Arg83=)
|
|
|
|
NM_005585.5(SMAD6):c.250C>T (p.Arg84Trp)
|
|
|
|
NM_005585.5(SMAD6):c.259G>C (p.Gly87Arg)
|
rs1422119769
|
|
|
NM_005585.5(SMAD6):c.259G>T (p.Gly87Trp)
|
|
|
|
NM_005585.5(SMAD6):c.25C>G (p.Leu9Val)
|
|
|
|
NM_005585.5(SMAD6):c.261G>A (p.Gly87=)
|
rs1595756699
|
|
|
NM_005585.5(SMAD6):c.262G>T (p.Gly88Cys)
|
rs887913905
|
|
|
NM_005585.5(SMAD6):c.263G>T (p.Gly88Val)
|
|
|
|
NM_005585.5(SMAD6):c.263del (p.Gly88fs)
|
rs1199495614
|
|
|
NM_005585.5(SMAD6):c.263dup (p.Arg91fs)
|
rs1199495614
|
|
|
NM_005585.5(SMAD6):c.264C>A (p.Gly88=)
|
|
|
|
NM_005585.5(SMAD6):c.264C>G (p.Gly88=)
|
rs547033777
|
|
|
NM_005585.5(SMAD6):c.264C>T (p.Gly88=)
|
|
|
|
NM_005585.5(SMAD6):c.266C>T (p.Pro89Leu)
|
rs1284707011
|
|
|
NM_005585.5(SMAD6):c.268C>T (p.Pro90Ser)
|
|
|
|
NM_005585.5(SMAD6):c.269C>G (p.Pro90Arg)
|
|
|
|
NM_005585.5(SMAD6):c.269C>T (p.Pro90Leu)
|
rs1448623139
|
|
|
NM_005585.5(SMAD6):c.269del (p.Pro90fs)
|
rs1006397889
|
|
|
NM_005585.5(SMAD6):c.269dup (p.Arg91fs)
|
rs1006397889
|
|
|
NM_005585.5(SMAD6):c.26T>C (p.Leu9Pro)
|
|
|
|
NM_005585.5(SMAD6):c.270G>A (p.Pro90=)
|
|
|
|
NM_005585.5(SMAD6):c.272G>T (p.Arg91Met)
|
|
|
|
NM_005585.5(SMAD6):c.277A>C (p.Met93Leu)
|
rs781686740
|
|
|
NM_005585.5(SMAD6):c.281C>T (p.Ser94Leu)
|
|
|
|
NM_005585.5(SMAD6):c.282G>A (p.Ser94=)
|
|
|
|
NM_005585.5(SMAD6):c.282G>C (p.Ser94=)
|
|
|
|
NM_005585.5(SMAD6):c.288A>G (p.Pro96=)
|
rs957321968
|
|
|
NM_005585.5(SMAD6):c.28G>T (p.Val10Leu)
|
|
|
|
NM_005585.5(SMAD6):c.291G>C (p.Gly97=)
|
rs1454366386
|
|
|
NM_005585.5(SMAD6):c.292G>T (p.Ala98Ser)
|
rs1383502178
|
|
|
NM_005585.5(SMAD6):c.293C>T (p.Ala98Val)
|
|
|
|
NM_005585.5(SMAD6):c.295G>A (p.Gly99Ser)
|
|
|
|
NM_005585.5(SMAD6):c.298G>A (p.Ala100Thr)
|
rs946134204
|
|
|
NM_005585.5(SMAD6):c.298G>C (p.Ala100Pro)
|
rs946134204
|
|
|
NM_005585.5(SMAD6):c.29T>G (p.Val10Gly)
|
|
|
|
NM_005585.5(SMAD6):c.2T>A (p.Met1Lys)
|
|
|
|
NM_005585.5(SMAD6):c.2T>C (p.Met1Thr)
|
rs1409145798
|
|
|
NM_005585.5(SMAD6):c.2T>G (p.Met1Arg)
|
rs1409145798
|
|
|
NM_005585.5(SMAD6):c.301G>A (p.Gly101Arg)
|
rs1433694123
|
|
|
NM_005585.5(SMAD6):c.302G>T (p.Gly101Val)
|
|
|
|
NM_005585.5(SMAD6):c.303del (p.Ser102fs)
|
|
|
|
NM_005585.5(SMAD6):c.310C>T (p.Leu104=)
|
|
|
|
NM_005585.5(SMAD6):c.318_320delinsAGG (p.Asp106_Val107delinsGluGly)
|
rs1060500751
|
|
|
NM_005585.5(SMAD6):c.319G>A (p.Val107Met)
|
|
|
|
NM_005585.5(SMAD6):c.32G>A (p.Arg11Gln)
|
|
|
|
NM_005585.5(SMAD6):c.338C>T (p.Pro113Leu)
|
|
|
|
NM_005585.5(SMAD6):c.339G>C (p.Pro113=)
|
|
|
|
NM_005585.5(SMAD6):c.341dup (p.Trp115fs)
|
rs1893030772
|
|
|
NM_005585.5(SMAD6):c.342C>T (p.Gly114=)
|
|
|
|
NM_005585.5(SMAD6):c.350C>G (p.Pro117Arg)
|
|
|
|
NM_005585.5(SMAD6):c.350C>T (p.Pro117Leu)
|
|
|
|
NM_005585.5(SMAD6):c.352G>A (p.Glu118Lys)
|
|
|
|
NM_005585.5(SMAD6):c.356G>A (p.Ser119Asn)
|
|
|
|
NM_005585.5(SMAD6):c.358G>A (p.Asp120Asn)
|
|
|
|
NM_005585.5(SMAD6):c.358G>C (p.Asp120His)
|
rs1397296874
|
|
|
NM_005585.5(SMAD6):c.363C>G (p.Cys121Trp)
|
|
|
|
NM_005585.5(SMAD6):c.364G>T (p.Glu122Ter)
|
rs1567091529
|
|
|
NM_005585.5(SMAD6):c.382C>A (p.Leu128Ile)
|
rs1567091533
|
|
|
NM_005585.5(SMAD6):c.382C>T (p.Leu128Phe)
|
rs1567091533
|
|
|
NM_005585.5(SMAD6):c.384_385del (p.Ser130fs)
|
|
|
|
NM_005585.5(SMAD6):c.387_388del (p.Ser130fs)
|
rs2140581496
|
|
|
NM_005585.5(SMAD6):c.38T>G (p.Leu13Arg)
|
rs1893016936
|
|
|
NM_005585.5(SMAD6):c.390G>C (p.Ser130=)
|
|
|
|
NM_005585.5(SMAD6):c.395G>T (p.Arg132Leu)
|
|
|
|
NM_005585.5(SMAD6):c.396G>C (p.Arg132=)
|
|
|
|
NM_005585.5(SMAD6):c.396G>T (p.Arg132=)
|
rs2140581526
|
|
|
NM_005585.5(SMAD6):c.403_423del (p.Ala135_Ala141del)
|
|
|
|
NM_005585.5(SMAD6):c.403_423dup (p.Ala141_Ser142insAlaGlyAlaProArgAspAla)
|
|
|
|
NM_005585.5(SMAD6):c.411G>A (p.Ala137=)
|
rs1555434217
|
|
|
NM_005585.5(SMAD6):c.413C>T (p.Pro138Leu)
|
rs1595756885
|
|
|
NM_005585.5(SMAD6):c.415C>T (p.Arg139Trp)
|
|
|
|
NM_005585.5(SMAD6):c.418G>A (p.Asp140Asn)
|
|
|
|
NM_005585.5(SMAD6):c.41G>A (p.Trp14Ter)
|
|
|
|
NM_005585.5(SMAD6):c.422C>G (p.Ala141Gly)
|
|
|
|
NM_005585.5(SMAD6):c.425_426delinsTT (p.Ser142Ile)
|
|
|
|
NM_005585.5(SMAD6):c.428A>T (p.Asp143Val)
|
|
|
|
NM_005585.5(SMAD6):c.42G>A (p.Trp14Ter)
|
rs1246889300
|
|
|
NM_005585.5(SMAD6):c.430C>A (p.Pro144Thr)
|
|
|
|
NM_005585.5(SMAD6):c.439G>C (p.Gly147Arg)
|
|
|
|
NM_005585.5(SMAD6):c.439G>T (p.Gly147Trp)
|
rs867644316
|
|
|
NM_005585.5(SMAD6):c.43C>G (p.Arg15Gly)
|
rs766270982
|
|
|
NM_005585.5(SMAD6):c.43C>T (p.Arg15Ter)
|
|
|
|
NM_005585.5(SMAD6):c.446C>T (p.Ala149Val)
|
rs535980291
|
|
|
NM_005585.5(SMAD6):c.447C>G (p.Ala149=)
|
|
|
|
NM_005585.5(SMAD6):c.455C>T (p.Pro152Leu)
|
|
|
|
NM_005585.5(SMAD6):c.459G>T (p.Ala153=)
|
|
|
|
NM_005585.5(SMAD6):c.461dup (p.Gly155fs)
|
|
|
|
NM_005585.5(SMAD6):c.465C>T (p.Gly155=)
|
|
|
|
NM_005585.5(SMAD6):c.465_471del (p.Gly156fs)
|
rs958818801
|
|
|
NM_005585.5(SMAD6):c.465_471dup (p.Ser158fs)
|
rs958818801
|
|
|
NM_005585.5(SMAD6):c.466G>T (p.Gly156Trp)
|
|
|
|
NM_005585.5(SMAD6):c.471G>C (p.Arg157=)
|
|
|
|
NM_005585.5(SMAD6):c.474T>G (p.Ser158Arg)
|
|
|
|
NM_005585.5(SMAD6):c.475C>G (p.Arg159Gly)
|
|
|
|
NM_005585.5(SMAD6):c.477_478del (p.Glu160fs)
|
|
|
|
NM_005585.5(SMAD6):c.481G>T (p.Ala161Ser)
|
|
|
|
NM_005585.5(SMAD6):c.485G>T (p.Arg162Leu)
|
|
|
|
NM_005585.5(SMAD6):c.488C>A (p.Ser163Ter)
|
|
|
|
NM_005585.5(SMAD6):c.488C>T (p.Ser163Leu)
|
|
|
|
NM_005585.5(SMAD6):c.489G>C (p.Ser163=)
|
|
|
|
NM_005585.5(SMAD6):c.490C>T (p.Arg164Trp)
|
|
|
|
NM_005585.5(SMAD6):c.493C>T (p.Leu165=)
|
|
|
|
NM_005585.5(SMAD6):c.493CTG[3] (p.Leu168del)
|
|
|
|
NM_005585.5(SMAD6):c.493CTG[5] (p.Leu168_Glu169insLeu)
|
|
|
|
NM_005585.5(SMAD6):c.494T>G (p.Leu165Arg)
|
|
|
|
NM_005585.5(SMAD6):c.495G>A (p.Leu165=)
|
rs749500105
|
|
|
NM_005585.5(SMAD6):c.496C>T (p.Leu166=)
|
rs2140581849
|
|
|
NM_005585.5(SMAD6):c.501G>A (p.Leu167=)
|
|
|
|
NM_005585.5(SMAD6):c.503T>C (p.Leu168Pro)
|
|
|
|
NM_005585.5(SMAD6):c.505G>T (p.Glu169Ter)
|
|
|
|
NM_005585.5(SMAD6):c.508C>T (p.Gln170Ter)
|
rs1235097131
|
|
|
NM_005585.5(SMAD6):c.511G>T (p.Glu171Ter)
|
rs1893037722
|
|
|
NM_005585.5(SMAD6):c.513A>G (p.Glu171=)
|
rs1893037828
|
|
|
NM_005585.5(SMAD6):c.516C>G (p.Leu172=)
|
rs772164418
|
|
|
NM_005585.5(SMAD6):c.516C>T (p.Leu172=)
|
|
|
|
NM_005585.5(SMAD6):c.519A>T (p.Lys173Asn)
|
|
|
|
NM_005585.5(SMAD6):c.521C>T (p.Thr174Ile)
|
|
|
|
NM_005585.5(SMAD6):c.528G>A (p.Thr176=)
|
|
|
|
NM_005585.5(SMAD6):c.531C>G (p.Tyr177Ter)
|
rs760571406
|
|
|
NM_005585.5(SMAD6):c.531C>T (p.Tyr177=)
|
rs760571406
|
|
|
NM_005585.5(SMAD6):c.533C>A (p.Ser178Ter)
|
|
|
|
NM_005585.5(SMAD6):c.533C>G (p.Ser178Trp)
|
|
|
|
NM_005585.5(SMAD6):c.533C>T (p.Ser178Leu)
|
|
|
|
NM_005585.5(SMAD6):c.536T>C (p.Leu179Pro)
|
rs1278620954
|
|
|
NM_005585.5(SMAD6):c.538C>T (p.Leu180=)
|
|
|
|
NM_005585.5(SMAD6):c.544C>T (p.Arg182Trp)
|
|
|
|
NM_005585.5(SMAD6):c.550A>C (p.Lys184Gln)
|
|
|
|
NM_005585.5(SMAD6):c.553G>A (p.Glu185Lys)
|
|
|
|
NM_005585.5(SMAD6):c.553G>C (p.Glu185Gln)
|
rs1893039406
|
|
|
NM_005585.5(SMAD6):c.553G>T (p.Glu185Ter)
|
|
|
|
NM_005585.5(SMAD6):c.556C>T (p.Arg186Cys)
|
|
|
|
NM_005585.5(SMAD6):c.557G>A (p.Arg186His)
|
|
|
|
NM_005585.5(SMAD6):c.557G>C (p.Arg186Pro)
|
|
|
|
NM_005585.5(SMAD6):c.558C>T (p.Arg186=)
|
|
|
|
NM_005585.5(SMAD6):c.559T>C (p.Ser187Pro)
|
|
|
|
NM_005585.5(SMAD6):c.55G>T (p.Val19Phe)
|
|
|
|
NM_005585.5(SMAD6):c.561G>A (p.Ser187=)
|
|
|
|
NM_005585.5(SMAD6):c.561G>C (p.Ser187=)
|
|
|
|
NM_005585.5(SMAD6):c.562C>T (p.Leu188=)
|
|
|
|
NM_005585.5(SMAD6):c.569C>A (p.Thr190Lys)
|
rs1893040158
|
|
|
NM_005585.5(SMAD6):c.569C>T (p.Thr190Met)
|
rs1893040158
|
|
|
NM_005585.5(SMAD6):c.573G>T (p.Leu191=)
|
rs778199794
|
|
|
NM_005585.5(SMAD6):c.576G>A (p.Leu192=)
|
|
|
|
NM_005585.5(SMAD6):c.583G>A (p.Val195Met)
|
|
|
|
NM_005585.5(SMAD6):c.584_611del (p.Val195fs)
|
|
|
|
NM_005585.5(SMAD6):c.586G>T (p.Glu196Ter)
|
|
|
|
NM_005585.5(SMAD6):c.588G>T (p.Glu196Asp)
|
rs1567091749
|
|
|
NM_005585.5(SMAD6):c.590C>T (p.Ser197Phe)
|
|
|
|
NM_005585.5(SMAD6):c.592C>T (p.Arg198Cys)
|
rs1261743877
|
|
|
NM_005585.5(SMAD6):c.594C>T (p.Arg198=)
|
rs565225133
|
|
|
NM_005585.5(SMAD6):c.595G>C (p.Gly199Arg)
|
|
|
|
NM_005585.5(SMAD6):c.598_612del (p.Gly200_Gly204del)
|
|
|
|
NM_005585.5(SMAD6):c.605C>T (p.Pro202Leu)
|
|
|
|
NM_005585.5(SMAD6):c.609C>G (p.Gly203=)
|
|
|
|
NM_005585.5(SMAD6):c.611G>C (p.Gly204Ala)
|
rs768542939
|
|
|
NM_005585.5(SMAD6):c.611G>T (p.Gly204Val)
|
|
|
|
NM_005585.5(SMAD6):c.613T>G (p.Cys205Gly)
|
|
|
|
NM_005585.5(SMAD6):c.613del (p.Cys205fs)
|
|
|
|
NM_005585.5(SMAD6):c.614_615delinsAA (p.Cys205Ter)
|
|
|
|
NM_005585.5(SMAD6):c.620T>G (p.Leu207Arg)
|
|
|
|
NM_005585.5(SMAD6):c.623T>C (p.Val208Ala)
|
|
|
|
NM_005585.5(SMAD6):c.628C>T (p.Arg210Cys)
|
|
|
|
NM_005585.5(SMAD6):c.633C>A (p.Ala211=)
|
|
|
|
NM_005585.5(SMAD6):c.633C>T (p.Ala211=)
|
|
|
|
NM_005585.5(SMAD6):c.635A>G (p.Asp212Gly)
|
|
|
|
NM_005585.5(SMAD6):c.637C>G (p.Leu213Val)
|
|
|
|
NM_005585.5(SMAD6):c.638dup (p.Arg214fs)
|
|
|
|
NM_005585.5(SMAD6):c.63C>T (p.Asp21=)
|
rs780992085
|
|
|
NM_005585.5(SMAD6):c.641G>A (p.Arg214His)
|
|
|
|
NM_005585.5(SMAD6):c.642C>T (p.Arg214=)
|
|
|
|
NM_005585.5(SMAD6):c.649G>T (p.Gly217Cys)
|
|
|
|
NM_005585.5(SMAD6):c.651C>G (p.Gly217=)
|
|
|
|
NM_005585.5(SMAD6):c.652C>T (p.Gln218Ter)
|
rs1196005021
|
|
|
NM_005585.5(SMAD6):c.654G>A (p.Gln218=)
|
|
|
|
NM_005585.5(SMAD6):c.656C>G (p.Pro219Arg)
|
rs1567091826
|
|
|
NM_005585.5(SMAD6):c.667dup (p.Gln223fs)
|
rs2140582321
|
|
|
NM_005585.5(SMAD6):c.672G>C (p.Leu224=)
|
|
|
|
NM_005585.5(SMAD6):c.680G>A (p.Gly227Asp)
|
|
|
|
NM_005585.5(SMAD6):c.680_684delinsTCGT (p.Gly227fs)
|
rs1893046284
|
|
|
NM_005585.5(SMAD6):c.681C>T (p.Gly227=)
|
|
|
|
NM_005585.5(SMAD6):c.682C>G (p.Arg228Gly)
|
|
|
|
NM_005585.5(SMAD6):c.683G>A (p.Arg228His)
|
rs1439907263
|
|
|
NM_005585.5(SMAD6):c.685C>G (p.Leu229Val)
|
|
|
|
NM_005585.5(SMAD6):c.691C>A (p.Arg231Ser)
|
|
|
|
NM_005585.5(SMAD6):c.691C>G (p.Arg231Gly)
|
rs1395007983
|
|
|
NM_005585.5(SMAD6):c.691C>T (p.Arg231Cys)
|
rs1395007983
|
|
|
NM_005585.5(SMAD6):c.691del (p.Arg231fs)
|
|
|
|
NM_005585.5(SMAD6):c.692G>C (p.Arg231Pro)
|
rs1419095990
|
|
|
NM_005585.5(SMAD6):c.702C>T (p.Asp234=)
|
rs779292711
|
|
|
NM_005585.5(SMAD6):c.703C>T (p.Leu235=)
|
|
|
|
NM_005585.5(SMAD6):c.706C>T (p.Gln236Ter)
|
|
|
|
NM_005585.5(SMAD6):c.714C>A (p.Ala238=)
|
rs746993602
|
|
|
NM_005585.5(SMAD6):c.714C>T (p.Ala238=)
|
rs746993602
|
|
|
NM_005585.5(SMAD6):c.719A>G (p.Glu240Gly)
|
rs2140582546
|
|
|
NM_005585.5(SMAD6):c.71A>G (p.Glu24Gly)
|
|
|
|
NM_005585.5(SMAD6):c.725A>C (p.Lys242Thr)
|
|
|
|
NM_005585.5(SMAD6):c.729C>G (p.Pro243=)
|
|
|
|
NM_005585.5(SMAD6):c.729C>T (p.Pro243=)
|
|
|
|
NM_005585.5(SMAD6):c.730C>G (p.Leu244Val)
|
|
|
|
NM_005585.5(SMAD6):c.732G>A (p.Leu244=)
|
rs1180155842
|
|
|
NM_005585.5(SMAD6):c.736_755dup (p.Asp255fs)
|
|
|
|
NM_005585.5(SMAD6):c.741C>A (p.Cys247Ter)
|
|
|
|
NM_005585.5(SMAD6):c.741C>G (p.Cys247Trp)
|
rs2140582642
|
|
|
NM_005585.5(SMAD6):c.746G>T (p.Ser249Ile)
|
rs924088670
|
|
|
NM_005585.5(SMAD6):c.747C>G (p.Ser249Arg)
|
|
|
|
NM_005585.5(SMAD6):c.747C>T (p.Ser249=)
|
|
|
|
NM_005585.5(SMAD6):c.748_749delinsGC (p.Phe250Ala)
|
|
|
|
NM_005585.5(SMAD6):c.750C>T (p.Phe250=)
|
rs1164002736
|
|
|
NM_005585.5(SMAD6):c.752CCG[5] (p.Ala254dup)
|
rs774732566
|
|
|
NM_005585.5(SMAD6):c.754G>T (p.Ala252Ser)
|
|
|
|
NM_005585.5(SMAD6):c.757G>A (p.Ala253Thr)
|
rs1893050180
|
|
|
NM_005585.5(SMAD6):c.764A>C (p.Asp255Ala)
|
|
|
|
NM_005585.5(SMAD6):c.768C>T (p.Gly256=)
|
|
|
|
NM_005585.5(SMAD6):c.770C>T (p.Pro257Leu)
|
rs1567092020
|
|
|
NM_005585.5(SMAD6):c.774C>G (p.Thr258=)
|
|
|
|
NM_005585.5(SMAD6):c.780C>T (p.Cys260=)
|
rs754314545
|
|
|
NM_005585.5(SMAD6):c.781T>G (p.Cys261Gly)
|
rs2140582832
|
|
|
NM_005585.5(SMAD6):c.785A>T (p.Asn262Ile)
|
rs1436851649
|
|
|
NM_005585.5(SMAD6):c.787C>A (p.Pro263Thr)
|
|
|
|
NM_005585.5(SMAD6):c.787C>T (p.Pro263Ser)
|
rs1382712515
|
|
|
NM_005585.5(SMAD6):c.788C>T (p.Pro263Leu)
|
rs765573567
|
|
|
NM_005585.5(SMAD6):c.789C>T (p.Pro263=)
|
|
|
|
NM_005585.5(SMAD6):c.789del (p.Tyr264fs)
|
|
|
|
NM_005585.5(SMAD6):c.791del (p.Tyr264fs)
|
|
|
|
NM_005585.5(SMAD6):c.792C>G (p.Tyr264Ter)
|
|
|
|
NM_005585.5(SMAD6):c.793C>T (p.His265Tyr)
|
rs1555434295
|
|
|
NM_005585.5(SMAD6):c.794del (p.His265fs)
|
rs1567092071
|
|
|
NM_005585.5(SMAD6):c.798C>T (p.Phe266=)
|
rs758794528
|
|
|
NM_005585.5(SMAD6):c.79_84del (p.Ser27_Gly28del)
|
rs769605183
|
|
|
NM_005585.5(SMAD6):c.79_84dup (p.Gly28_Gly29insSerGly)
|
|
|
|
NM_005585.5(SMAD6):c.800G>C (p.Ser267Thr)
|
|
|
|
NM_005585.5(SMAD6):c.802C>A (p.Arg268=)
|
|
|
|
NM_005585.5(SMAD6):c.802C>T (p.Arg268Trp)
|
|
|
|
NM_005585.5(SMAD6):c.806T>A (p.Leu269His)
|
|
|
|
NM_005585.5(SMAD6):c.807C>T (p.Leu269=)
|
|
|
|
NM_005585.5(SMAD6):c.812G>C (p.Gly271Ala)
|
|
|
|
NM_005585.5(SMAD6):c.814C>G (p.Pro272Ala)
|
|
|
|
NM_005585.5(SMAD6):c.817+16C>T
|
|
|
|
NM_005585.5(SMAD6):c.817+17G>C
|
|
|
|
NM_005585.5(SMAD6):c.817+4A>G
|
|
|
|
NM_005585.5(SMAD6):c.817G>A (p.Glu273Lys)
|
|
|
|
NM_005585.5(SMAD6):c.817G>T (p.Glu273Ter)
|
rs1259557323
|
|
|
NM_005585.5(SMAD6):c.818-17T>C
|
|
|
|
NM_005585.5(SMAD6):c.818-1G>A
|
|
|
|
NM_005585.5(SMAD6):c.819A>G (p.Glu273=)
|
|
|
|
NM_005585.5(SMAD6):c.81CGG[5] (p.Gly33dup)
|
rs936063348
|
|
|
NM_005585.5(SMAD6):c.832C>T (p.Pro278Ser)
|
|
|
|
NM_005585.5(SMAD6):c.841C>T (p.Arg281Trp)
|
rs200004068
|
|
|
NM_005585.5(SMAD6):c.842G>A (p.Arg281Gln)
|
rs758203577
|
|
|
NM_005585.5(SMAD6):c.84C>T (p.Gly28=)
|
|
|
|
NM_005585.5(SMAD6):c.857A>G (p.Asp286Gly)
|
|
|
|
NM_005585.5(SMAD6):c.861G>A (p.Glu287=)
|
|
|
|
NM_005585.5(SMAD6):c.865A>T (p.Lys289Ter)
|
rs2140596481
|
|
|
NM_005585.5(SMAD6):c.874+15C>T
|
|
|
|
NM_005585.5(SMAD6):c.874+1G>C
|
|
|
|
NM_005585.5(SMAD6):c.874+20T>G
|
|
|
|
NM_005585.5(SMAD6):c.874+4A>C
|
|
|
|
NM_005585.5(SMAD6):c.874+4A>G
|
|
|
|
NM_005585.5(SMAD6):c.874+8_874+9del
|
rs2140596524
|
|
|
NM_005585.5(SMAD6):c.874G>A (p.Asp292Asn)
|
|
|
|
NM_005585.5(SMAD6):c.875-1G>A
|
|
|
|
NM_005585.5(SMAD6):c.875-1G>C
|
rs768925483
|
|
|
NM_005585.5(SMAD6):c.875-2A>T
|
|
|
|
NM_005585.5(SMAD6):c.875-9C>G
|
|
|
|
NM_005585.5(SMAD6):c.877C>T (p.Leu293=)
|
|
|
|
NM_005585.5(SMAD6):c.888C>T (p.Ser296=)
|
|
|
|
NM_005585.5(SMAD6):c.892T>C (p.Leu298=)
|
|
|
|
NM_005585.5(SMAD6):c.896C>G (p.Ser299Cys)
|
|
|
|
NM_005585.5(SMAD6):c.89G>C (p.Gly30Ala)
|
rs1567091237
|
|
|
NM_005585.5(SMAD6):c.89_100dup (p.Gly30_Gly33dup)
|
rs1473812330
|
|
|
NM_005585.5(SMAD6):c.89_103dup (p.Asp34_Glu35insGlyGlyGlyGlyAsp)
|
|
|
|
NM_005585.5(SMAD6):c.900C>G (p.Tyr300Ter)
|
|
|
|
NM_005585.5(SMAD6):c.900C>T (p.Tyr300=)
|
|
|
|
NM_005585.5(SMAD6):c.901A>G (p.Thr301Ala)
|
rs1470199537
|
|
|
NM_005585.5(SMAD6):c.901A>T (p.Thr301Ser)
|
rs1470199537
|
|
|
NM_005585.5(SMAD6):c.916A>G (p.Thr306Ala)
|
|
|
|
NM_005585.5(SMAD6):c.928A>G (p.Ile310Val)
|
|
|
|
NM_005585.5(SMAD6):c.92_100del (p.Gly31_Gly33del)
|
rs750149627
|
|
|
NM_005585.5(SMAD6):c.93T>A (p.Gly31=)
|
rs780659575
|
|
|
NM_005585.5(SMAD6):c.93_95del (p.Gly33del)
|
rs1046189206
|
|
|
NM_005585.5(SMAD6):c.952+13del
|
rs761315842
|
|
|
NM_005585.5(SMAD6):c.953-17dup
|
rs2140680944
|
|
|
NM_005585.5(SMAD6):c.953-18C>A
|
rs938974070
|
|
|
NM_005585.5(SMAD6):c.953-20T>C
|
rs2140680938
|
|
|
NM_005585.5(SMAD6):c.953-2A>G
|
rs1016515449
|
|
|
NM_005585.5(SMAD6):c.953-2_968del
|
|
|
|
NM_005585.5(SMAD6):c.954C>T (p.Asp318=)
|
|
|
|
NM_005585.5(SMAD6):c.95GCG[4] (p.Gly32_Gly33dup)
|
rs758201660
|
|
|
NM_005585.5(SMAD6):c.976A>G (p.Thr326Ala)
|
rs747009304
|
|
|
NM_005585.5(SMAD6):c.97G>A (p.Gly33Ser)
|
|
|
|
NM_005585.5(SMAD6):c.97G>T (p.Gly33Cys)
|
rs769111756
|
|
|
NM_005585.5(SMAD6):c.983C>T (p.Pro328Leu)
|
|
|
|
NM_005585.5(SMAD6):c.991_992insCAC (p.Trp331delinsSerArg)
|
rs2140681073
|
|
|
NM_005585.5(SMAD6):c.993G>C (p.Trp331Cys)
|
|
|
|
NM_005585.5(SMAD6):c.998G>A (p.Ser333Asn)
|
|
|
|
NM_005585.5(SMAD6):c.99C>T (p.Gly33=)
|
|
|
|
NM_017617.5(NOTCH1):c.1045A>C (p.Thr349Pro)
|
rs200520088
|
|
|
NM_017617.5(NOTCH1):c.1070T>C (p.Phe357Ser)
|
rs1843316172
|
|
|
NM_017617.5(NOTCH1):c.1070_1072del (p.Phe357del)
|
rs1843316084
|
|
|
NM_017617.5(NOTCH1):c.1220C>G (p.Pro407Arg)
|
rs754529382
|
|
|
NM_017617.5(NOTCH1):c.1242T>G (p.Asp414Glu)
|
rs1843307597
|
|
|
NM_017617.5(NOTCH1):c.1266C>A (p.Pro422=)
|
rs762533002
|
|
|
NM_017617.5(NOTCH1):c.1505A>G (p.Asn502Ser)
|
|
|
|
NM_017617.5(NOTCH1):c.1542C>A (p.Cys514Ter)
|
rs779058908
|
|
|
NM_017617.5(NOTCH1):c.1542C>G (p.Cys514Trp)
|
|
|
|
NM_017617.5(NOTCH1):c.1567C>T (p.His523Tyr)
|
rs572103199
|
|
|
NM_017617.5(NOTCH1):c.1701C>A (p.Ile567=)
|
rs773932034
|
|
|
NM_017617.5(NOTCH1):c.1711G>A (p.Asp571Asn)
|
rs373125283
|
|
|
NM_017617.5(NOTCH1):c.1741A>G (p.Lys581Glu)
|
rs778992111
|
|
|
NM_017617.5(NOTCH1):c.1753G>A (p.Ala585Thr)
|
rs775217381
|
|
|
NM_017617.5(NOTCH1):c.1904-16C>T
|
rs775848413
|
|
|
NM_017617.5(NOTCH1):c.2062C>T (p.His688Tyr)
|
|
|
|
NM_017617.5(NOTCH1):c.2112C>A (p.Cys704Ter)
|
|
|
|
NM_017617.5(NOTCH1):c.2148G>C (p.Glu716Asp)
|
rs376468003
|
|
|
NM_017617.5(NOTCH1):c.2153A>G (p.Asn718Ser)
|
rs1843232044
|
|
|
NM_017617.5(NOTCH1):c.2243C>A (p.Thr748Asn)
|
rs1284149123
|
|
|
NM_017617.5(NOTCH1):c.2266G>T (p.Glu756Ter)
|
|
|
|
NM_017617.5(NOTCH1):c.2278_2282del (p.Asn760fs)
|
|
|
|
NM_017617.5(NOTCH1):c.2291A>G (p.Asn764Ser)
|
rs1454630791
|
|
|
NM_017617.5(NOTCH1):c.2326G>T (p.Val776Leu)
|
rs377286829
|
|
|
NM_017617.5(NOTCH1):c.236G>A (p.Arg79His)
|
rs768517628
|
|
|
NM_017617.5(NOTCH1):c.2380del (p.Glu794fs)
|
rs863224901
|
|
|
NM_017617.5(NOTCH1):c.2439C>G (p.Tyr813Ter)
|
rs1057515422
|
|
|
NM_017617.5(NOTCH1):c.2446A>G (p.Asn816Asp)
|
rs1589064290
|
|
|
NM_017617.5(NOTCH1):c.2496G>A (p.Pro832=)
|
rs61751551
|
|
|
NM_017617.5(NOTCH1):c.2496G>T (p.Pro832=)
|
rs61751551
|
|
|
NM_017617.5(NOTCH1):c.2501C>G (p.Ala834Gly)
|
rs202144877
|
|
|
NM_017617.5(NOTCH1):c.2514C>T (p.Cys838=)
|
rs1554728839
|
|
|
NM_017617.5(NOTCH1):c.2520CGG[1] (p.Gly842del)
|
rs754554370
|
|
|
NM_017617.5(NOTCH1):c.2558_2560del (p.Phe853del)
|
rs779164170
|
|
|
NM_017617.5(NOTCH1):c.269_270delinsTG (p.Ala90Val)
|
rs1554730737
|
|
|
NM_017617.5(NOTCH1):c.2705G>A (p.Arg902His)
|
rs373075482
|
|
|
NM_017617.5(NOTCH1):c.2740+5G>A
|
|
|
|
NM_017617.5(NOTCH1):c.2793C>T (p.Cys931=)
|
rs557156741
|
|
|
NM_017617.5(NOTCH1):c.2851A>G (p.Ser951Gly)
|
rs1843150410
|
|
|
NM_017617.5(NOTCH1):c.2898_2899delinsGA (p.Ser966_Tyr967delinsArgAsn)
|
rs1843149230
|
|
|
NM_017617.5(NOTCH1):c.2950A>G (p.Thr984Ala)
|
rs1843147969
|
|
|
NM_017617.5(NOTCH1):c.2963C>T (p.Thr988Ile)
|
rs1843147704
|
|
|
NM_017617.5(NOTCH1):c.3104C>T (p.Thr1035Ile)
|
rs886039138
|
|
|
NM_017617.5(NOTCH1):c.3171+1_5935-1del
|
|
|
|
NM_017617.5(NOTCH1):c.3262G>C (p.Gly1088Arg)
|
rs531420022
|
|
|
NM_017617.5(NOTCH1):c.3282C>A (p.Cys1094Ter)
|
|
|
|
NM_017617.5(NOTCH1):c.3315G>A (p.Ala1105=)
|
rs3812602
|
|
|
NM_017617.5(NOTCH1):c.3319C>T (p.Arg1107Ter)
|
rs41309764
|
|
|
NM_017617.5(NOTCH1):c.3345G>T (p.Leu1115=)
|
rs752440904
|
|
|
NM_017617.5(NOTCH1):c.335G>A (p.Arg112His)
|
rs768625801
|
|
|
NM_017617.5(NOTCH1):c.3556G>C (p.Glu1186Gln)
|
|
|
|
NM_017617.5(NOTCH1):c.3579G>A (p.Gln1193=)
|
rs61751544
|
|
|
NM_017617.5(NOTCH1):c.3579G>T (p.Gln1193His)
|
rs61751544
|
|
|
NM_017617.5(NOTCH1):c.35C>T (p.Ala12Val)
|
rs1473062369
|
|
|
NM_017617.5(NOTCH1):c.3604C>T (p.Pro1202Ser)
|
rs1554728268
|
|
|
NM_017617.5(NOTCH1):c.3638C>G (p.Thr1213Ser)
|
rs750536437
|
|
|
NM_017617.5(NOTCH1):c.3765C>A (p.Cys1255Ter)
|
rs1057515423
|
|
|
NM_017617.5(NOTCH1):c.3832G>A (p.Ala1278Thr)
|
rs1406056612
|
|
|
NM_017617.5(NOTCH1):c.3852C>T (p.Cys1284=)
|
rs377289044
|
|
|
NM_017617.5(NOTCH1):c.3853G>T (p.Val1285Leu)
|
rs756972680
|
|
|
NM_017617.5(NOTCH1):c.389del (p.Pro130fs)
|
rs1843413593
|
|
|
NM_017617.5(NOTCH1):c.3915G>A (p.Glu1305=)
|
rs1554728133
|
|
|
NM_017617.5(NOTCH1):c.3970G>T (p.Val1324Leu)
|
rs149057410
|
|
|
NM_017617.5(NOTCH1):c.3974C>A (p.Ala1325Asp)
|
rs896438598
|
|
|
NM_017617.5(NOTCH1):c.3999C>G (p.Ile1333Met)
|
|
|
|
NM_017617.5(NOTCH1):c.4016G>C (p.Gly1339Ala)
|
rs1131692021
|
|
|
NM_017617.5(NOTCH1):c.404-5T>C
|
rs1229789449
|
|
|
NM_017617.5(NOTCH1):c.4049G>C (p.Arg1350Pro)
|
rs150343794
|
|
|
NM_017617.5(NOTCH1):c.4058G>A (p.Gly1353Asp)
|
rs1274662962
|
|
|
NM_017617.5(NOTCH1):c.4335C>G (p.Ile1445Met)
|
rs373960609
|
|
|
NM_017617.5(NOTCH1):c.4335C>T (p.Ile1445=)
|
rs373960609
|
|
|
NM_017617.5(NOTCH1):c.433G>A (p.Ala145Thr)
|
rs1388726872
|
|
|
NM_017617.5(NOTCH1):c.4512del (p.Cys1505fs)
|
rs41309766
|
|
|
NM_017617.5(NOTCH1):c.4560C>T (p.Asp1520=)
|
rs1057523575
|
|
|
NM_017617.5(NOTCH1):c.4583_4586+2dup
|
|
|
|
NM_017617.5(NOTCH1):c.4608C>G (p.Cys1536Trp)
|
|
|
|
NM_017617.5(NOTCH1):c.4758_4759insCA (p.Asn1587fs)
|
rs1843055667
|
|
|
NM_017617.5(NOTCH1):c.475G>A (p.Glu159Lys)
|
|
|
|
NM_017617.5(NOTCH1):c.4971C>G (p.Ser1657Arg)
|
rs367838230
|
|
|
NM_017617.5(NOTCH1):c.4971C>T (p.Ser1657=)
|
rs367838230
|
|
|
NM_017617.5(NOTCH1):c.4985G>A (p.Arg1662Gln)
|
rs774808496
|
|
|
NM_017617.5(NOTCH1):c.5016C>T (p.Arg1672=)
|
rs1251609154
|
|
|
NM_017617.5(NOTCH1):c.5019-13_5019-10del
|
rs374419074
|
|
|
NM_017617.5(NOTCH1):c.5124G>A (p.Ser1708=)
|
rs35980907
|
|
|
NM_017617.5(NOTCH1):c.5155G>A (p.Glu1719Lys)
|
rs750085425
|
|
|
NM_017617.5(NOTCH1):c.5167+5G>A
|
|
|
|
NM_017617.5(NOTCH1):c.5168-7C>T
|
rs1589056781
|
|
|
NM_017617.5(NOTCH1):c.5215G>A (p.Val1739Met)
|
rs377294245
|
|
|
NM_017617.5(NOTCH1):c.5218G>T (p.Ala1740Ser)
|
rs864622062
|
|
|
NM_017617.5(NOTCH1):c.5351G>A (p.Arg1784Gln)
|
|
|
|
NM_017617.5(NOTCH1):c.5430G>C (p.Gln1810His)
|
rs1843005523
|
|
|
NM_017617.5(NOTCH1):c.5438G>T (p.Trp1813Leu)
|
rs755659037
|
|
|
NM_017617.5(NOTCH1):c.5472+19G>C
|
rs755674060
|
|
|
NM_017617.5(NOTCH1):c.5476G>A (p.Glu1826Lys)
|
rs374103443
|
|
|
NM_017617.5(NOTCH1):c.5496_5505delinsGGT (p.Asp1833fs)
|
|
|
|
NM_017617.5(NOTCH1):c.5661C>G (p.Ile1887Met)
|
rs750185397
|
|
|
NM_017617.5(NOTCH1):c.580A>C (p.Thr194Pro)
|
rs770333242
|
|
|
NM_017617.5(NOTCH1):c.5819G>A (p.Arg1940His)
|
rs897872809
|
|
|
NM_017617.5(NOTCH1):c.5923G>A (p.Gly1975Ser)
|
|
|
|
NM_017617.5(NOTCH1):c.5927T>A (p.Val1976Asp)
|
|
|
|
NM_017617.5(NOTCH1):c.5950C>T (p.Arg1984Ter)
|
rs1554826746
|
|
|
NM_017617.5(NOTCH1):c.59G>T (p.Arg20Leu)
|
rs1554733799
|
|
|
NM_017617.5(NOTCH1):c.6018C>T (p.Ala2006=)
|
rs748935957
|
|
|
NM_017617.5(NOTCH1):c.608G>A (p.Arg203His)
|
rs182763411
|
|
|
NM_017617.5(NOTCH1):c.6109G>T (p.Ala2037Ser)
|
rs1060502237
|
|
|
NM_017617.5(NOTCH1):c.6180+9G>T
|
rs200371378
|
|
|
NM_017617.5(NOTCH1):c.620G>A (p.Arg207His)
|
rs779118023
|
|
|
NM_017617.5(NOTCH1):c.6284G>T (p.Arg2095Leu)
|
rs756874994
|
|
|
NM_017617.5(NOTCH1):c.6348C>G (p.Tyr2116Ter)
|
rs1057518661
|
|
|
NM_017617.5(NOTCH1):c.6375C>T (p.His2125=)
|
rs369009290
|
|
|
NM_017617.5(NOTCH1):c.6396G>C (p.Thr2132=)
|
rs554843595
|
|
|
NM_017617.5(NOTCH1):c.6397C>A (p.Pro2133Thr)
|
rs61733294
|
|
|
NM_017617.5(NOTCH1):c.6454G>C (p.Gly2152Arg)
|
rs116317506
|
|
|
NM_017617.5(NOTCH1):c.6570G>C (p.Leu2190=)
|
rs200630233
|
|
|
NM_017617.5(NOTCH1):c.6597C>G (p.Pro2199=)
|
rs374640663
|
|
|
NM_017617.5(NOTCH1):c.6597C>T (p.Pro2199=)
|
rs374640663
|
|
|
NM_017617.5(NOTCH1):c.6666G>A (p.Pro2222=)
|
rs202229687
|
|
|
NM_017617.5(NOTCH1):c.672C>T (p.Pro224=)
|
rs777019253
|
|
|
NM_017617.5(NOTCH1):c.6739C>G (p.Leu2247Val)
|
rs377165086
|
|
|
NM_017617.5(NOTCH1):c.6739C>T (p.Leu2247=)
|
rs377165086
|
|
|
NM_017617.5(NOTCH1):c.6744C>G (p.Asn2248Lys)
|
rs372771288
|
|
|
NM_017617.5(NOTCH1):c.6767C>T (p.Ala2256Val)
|
rs759225800
|
|
|
NM_017617.5(NOTCH1):c.6851C>T (p.Thr2284Ile)
|
rs1341934554
|
|
|
NM_017617.5(NOTCH1):c.6919C>T (p.Gln2307Ter)
|
|
|
|
NM_017617.5(NOTCH1):c.691G>A (p.Gly231Ser)
|
rs1247729687
|
|
|
NM_017617.5(NOTCH1):c.6966A>G (p.Gln2322=)
|
rs1318983291
|
|
|
NM_017617.5(NOTCH1):c.7096C>T (p.Gln2366Ter)
|
|
|
|
NM_017617.5(NOTCH1):c.7151A>G (p.Gln2384Arg)
|
rs1842918547
|
|
|
NM_017617.5(NOTCH1):c.7209G>C (p.Gln2403His)
|
rs61751486
|
|
|
NM_017617.5(NOTCH1):c.7232CAC[4] (p.Pro2415del)
|
rs762336270
|
|
|
NM_017617.5(NOTCH1):c.7311G>T (p.Glu2437Asp)
|
rs886039031
|
|
|
NM_017617.5(NOTCH1):c.750C>A (p.Thr250=)
|
rs375772590
|
|
|
NM_017617.5(NOTCH1):c.7575G>C (p.Pro2525=)
|
rs375576856
|
|
|
NM_017617.5(NOTCH1):c.928G>A (p.Gly310Arg)
|
|
|
|
NM_017617.5(NOTCH1):c.968G>A (p.Cys323Tyr)
|
|
|
|
NM_019055.6(ROBO4):c.1146C>G (p.Tyr382Ter)
|
rs2135378156
|
|
|
NM_019055.6(ROBO4):c.1233T>A (p.His411Gln)
|
rs1565326476
|
|
|
NM_019055.6(ROBO4):c.1529A>T (p.Asp510Val)
|
rs1565325937
|
|
|
NM_019055.6(ROBO4):c.1601_1614del (p.Gly534fs)
|
rs755569942
|
|
|
NM_019055.6(ROBO4):c.1678C>T (p.Arg560Cys)
|
|
|
|
NM_019055.6(ROBO4):c.184A>G (p.Thr62Ala)
|
|
|
|
NM_019055.6(ROBO4):c.1900C>T (p.Arg634Cys)
|
|
|
|
NM_019055.6(ROBO4):c.2056+1G>T
|
rs764038221
|
|
|
NM_019055.6(ROBO4):c.2092C>A (p.Leu698Met)
|
|
|
|
NM_019055.6(ROBO4):c.2182C>T (p.Gln728Ter)
|
|
|
|
NM_019055.6(ROBO4):c.2245_2246delinsCT (p.Ala749Leu)
|
rs1565322176
|
|
|
NM_019055.6(ROBO4):c.2758G>A (p.Gly920Ser)
|
|
|
|
NM_019055.6(ROBO4):c.740T>C (p.Val247Ala)
|
rs779392207
|
|
|
NM_019055.6(ROBO4):c.746T>C (p.Leu249Pro)
|
|
|
|
NM_019055.6(ROBO4):c.980_981del (p.Ser327fs)
|
|
|
|
NM_181486.4(TBX5):c.100dup (p.Ala34fs)
|
|
|
|
NM_181486.4(TBX5):c.1010C>A (p.Pro337His)
|
|
|
|
NM_181486.4(TBX5):c.1012del (p.Tyr338fs)
|
rs2136360335
|
|
|
NM_181486.4(TBX5):c.101C>T (p.Ala34Val)
|
rs761952835
|
|
|
NM_181486.4(TBX5):c.1027A>G (p.Met343Val)
|
|
|
|
NM_181486.4(TBX5):c.102C>A (p.Ala34=)
|
|
|
|
NM_181486.4(TBX5):c.1037C>A (p.Ser346Ter)
|
rs2136360259
|
|
|
NM_181486.4(TBX5):c.1039C>T (p.Pro347Ser)
|
|
|
|
NM_181486.4(TBX5):c.105del (p.Ser36fs)
|
rs1057516042
|
|
|
NM_181486.4(TBX5):c.1077A>G (p.Pro359=)
|
|
|
|
NM_181486.4(TBX5):c.1098C>G (p.Ala366=)
|
|
|
|
NM_181486.4(TBX5):c.10G>A (p.Ala4Thr)
|
rs1319312312
|
|
|
NM_181486.4(TBX5):c.1104C>G (p.Tyr368Ter)
|
rs1565923835
|
|
|
NM_181486.4(TBX5):c.1114T>A (p.Ser372Thr)
|
|
|
|
NM_181486.4(TBX5):c.1115_1116delinsAGGCGCTCCTACA (p.Ser372Ter)
|
rs1593836748
|
|
|
NM_181486.4(TBX5):c.1135A>C (p.Met379Leu)
|
|
|
|
NM_181486.4(TBX5):c.1135A>T (p.Met379Leu)
|
rs759607221
|
|
|
NM_181486.4(TBX5):c.1140T>G (p.Tyr380Ter)
|
|
|
|
NM_181486.4(TBX5):c.1155C>T (p.Pro385=)
|
|
|
|
NM_181486.4(TBX5):c.1157C>A (p.Pro386His)
|
rs771857554
|
|
|
NM_181486.4(TBX5):c.115C>T (p.Pro39Ser)
|
|
|
|
NM_181486.4(TBX5):c.1161C>T (p.Ser387=)
|
|
|
|
NM_181486.4(TBX5):c.1165C>T (p.Pro389Ser)
|
rs1187747905
|
|
|
NM_181486.4(TBX5):c.1166C>A (p.Pro389His)
|
|
|
|
NM_181486.4(TBX5):c.116del (p.Pro39fs)
|
|
|
|
NM_181486.4(TBX5):c.117G>A (p.Pro39=)
|
|
|
|
NM_181486.4(TBX5):c.1203G>T (p.Trp401Cys)
|
|
|
|
NM_181486.4(TBX5):c.1206A>G (p.Pro402=)
|
rs763129045
|
|
|
NM_181486.4(TBX5):c.1233C>T (p.Thr411=)
|
rs188839350
|
|
|
NM_181486.4(TBX5):c.1242C>A (p.Thr414=)
|
rs370133092
|
|
|
NM_181486.4(TBX5):c.1243G>A (p.Val415Met)
|
|
|
|
NM_181486.4(TBX5):c.1282G>A (p.Ala428Thr)
|
|
|
|
NM_181486.4(TBX5):c.1332C>T (p.Asn444=)
|
|
|
|
NM_181486.4(TBX5):c.1429C>T (p.Gln477Ter)
|
|
|
|
NM_181486.4(TBX5):c.142C>T (p.Gln48Ter)
|
rs863223777
|
|
|
NM_181486.4(TBX5):c.1430A>G (p.Gln477Arg)
|
|
|
|
NM_181486.4(TBX5):c.1442C>T (p.Thr481Ile)
|
|
|
|
NM_181486.4(TBX5):c.1450C>T (p.Pro484Ser)
|
|
|
|
NM_181486.4(TBX5):c.1451C>A (p.Pro484His)
|
rs768644203
|
|
|
NM_181486.4(TBX5):c.147+13C>G
|
|
|
|
NM_181486.4(TBX5):c.147+8_147+10del
|
rs1593886226
|
|
|
NM_181486.4(TBX5):c.148-2A>C
|
|
|
|
NM_181486.4(TBX5):c.1485del (p.Thr496fs)
|
|
|
|
NM_181486.4(TBX5):c.1488T>C (p.Thr496=)
|
|
|
|
NM_181486.4(TBX5):c.1518C>T (p.His506=)
|
|
|
|
NM_181486.4(TBX5):c.1524T>C (p.Val508=)
|
|
|
|
NM_181486.4(TBX5):c.1544G>A (p.Ser515Asn)
|
|
|
|
NM_181486.4(TBX5):c.1545C>A (p.Ser515Arg)
|
|
|
|
NM_181486.4(TBX5):c.1546G>A (p.Asp516Asn)
|
|
|
|
NM_181486.4(TBX5):c.154G>T (p.Glu52Ter)
|
rs1208004863
|
|
|
NM_181486.4(TBX5):c.158G>A (p.Gly53Glu)
|
|
|
|
NM_181486.4(TBX5):c.163_172del (p.Lys55fs)
|
rs1593883930
|
|
|
NM_181486.4(TBX5):c.188T>G (p.Leu63Arg)
|
|
|
|
NM_181486.4(TBX5):c.216G>A (p.Thr72=)
|
|
|
|
NM_181486.4(TBX5):c.217G>C (p.Glu73Gln)
|
|
|
|
NM_181486.4(TBX5):c.225C>T (p.Ile75=)
|
|
|
|
NM_181486.4(TBX5):c.238_239delinsT (p.Ala79_Gly80insTer)
|
rs1871830996
|
|
|
NM_181486.4(TBX5):c.239G>A (p.Gly80Glu)
|
rs1871830806
|
|
|
NM_181486.4(TBX5):c.242+15T>C
|
|
|
|
NM_181486.4(TBX5):c.242+18G>A
|
|
|
|
NM_181486.4(TBX5):c.242G>A (p.Arg81Lys)
|
|
|
|
NM_181486.4(TBX5):c.243-13C>T
|
|
|
|
NM_181486.4(TBX5):c.243-1G>A
|
rs1871673582
|
|
|
NM_181486.4(TBX5):c.243-20_243-5del
|
rs2136418321
|
|
|
NM_181486.4(TBX5):c.243-2A>G
|
rs2136418310
|
|
|
NM_181486.4(TBX5):c.246G>T (p.Arg82=)
|
|
|
|
NM_181486.4(TBX5):c.246del (p.Met83fs)
|
rs1871673161
|
|
|
NM_181486.4(TBX5):c.249G>A (p.Met83Ile)
|
|
|
|
NM_181486.4(TBX5):c.252T>A (p.Phe84Leu)
|
rs2136418265
|
|
|
NM_181486.4(TBX5):c.260A>G (p.Tyr87Cys)
|
rs886039131
|
|
|
NM_181486.4(TBX5):c.264A>G (p.Lys88=)
|
|
|
|
NM_181486.4(TBX5):c.26G>A (p.Gly9Asp)
|
|
|
|
NM_181486.4(TBX5):c.278dup (p.Leu94fs)
|
rs1555226420
|
|
|
NM_181486.4(TBX5):c.286C>T (p.Pro96Ser)
|
|
|
|
NM_181486.4(TBX5):c.294G>T (p.Thr98=)
|
|
|
|
NM_181486.4(TBX5):c.29T>G (p.Leu10Arg)
|
|
|
|
NM_181486.4(TBX5):c.309_310delinsAC (p.Met104Leu)
|
rs2136418134
|
|
|
NM_181486.4(TBX5):c.341dup (p.Tyr114Ter)
|
rs2136418056
|
|
|
NM_181486.4(TBX5):c.362+13G>T
|
|
|
|
NM_181486.4(TBX5):c.362+2T>C
|
rs1593881162
|
|
|
NM_181486.4(TBX5):c.363-2A>G
|
rs1565941072
|
|
|
NM_181486.4(TBX5):c.375C>T (p.Gly125=)
|
|
|
|
NM_181486.4(TBX5):c.383_386dup (p.Met131fs)
|
rs2136416963
|
|
|
NM_181486.4(TBX5):c.38C>A (p.Thr13Lys)
|
rs763125466
|
|
|
NM_181486.4(TBX5):c.390del (p.Met131fs)
|
rs1565941046
|
|
|
NM_181486.4(TBX5):c.400del (p.Arg134fs)
|
rs1408227928
|
|
|
NM_181486.4(TBX5):c.401G>C (p.Arg134Pro)
|
|
|
|
NM_181486.4(TBX5):c.401G>T (p.Arg134Leu)
|
|
|
|
NM_181486.4(TBX5):c.408C>T (p.Tyr136=)
|
|
|
|
NM_181486.4(TBX5):c.422C>A (p.Ser141Tyr)
|
rs1871581681
|
|
|
NM_181486.4(TBX5):c.422C>G (p.Ser141Cys)
|
|
|
|
NM_181486.4(TBX5):c.432C>A (p.Thr144=)
|
|
|
|
NM_181486.4(TBX5):c.432dup (p.Gly145fs)
|
rs1555226322
|
|
|
NM_181486.4(TBX5):c.438G>C (p.Ala146=)
|
|
|
|
NM_181486.4(TBX5):c.443G>A (p.Trp148Ter)
|
rs1060503154
|
|
|
NM_181486.4(TBX5):c.456del (p.Val153fs)
|
rs1057520136
|
|
|
NM_181486.4(TBX5):c.462C>A (p.Ser154=)
|
|
|
|
NM_181486.4(TBX5):c.476A>C (p.Lys159Thr)
|
rs2136416640
|
|
|
NM_181486.4(TBX5):c.479T>C (p.Leu160Pro)
|
|
|
|
NM_181486.4(TBX5):c.481A>T (p.Thr161Ser)
|
rs2136416621
|
|
|
NM_181486.4(TBX5):c.482C>T (p.Thr161Ile)
|
|
|
|
NM_181486.4(TBX5):c.484A>G (p.Asn162Asp)
|
rs1871568678
|
|
|
NM_181486.4(TBX5):c.486C>A (p.Asn162Lys)
|
rs2136416601
|
|
|
NM_181486.4(TBX5):c.492C>G (p.His164Gln)
|
|
|
|
NM_181486.4(TBX5):c.503T>C (p.Phe168Ser)
|
|
|
|
NM_181486.4(TBX5):c.510+5G>A
|
rs1555226301
|
|
|
NM_181486.4(TBX5):c.510+8C>A
|
|
|
|
NM_181486.4(TBX5):c.511-1G>C
|
rs2136411098
|
|
|
NM_181486.4(TBX5):c.511-1del
|
|
|
|
NM_181486.4(TBX5):c.511-9del
|
rs775035000
|
|
|
NM_181486.4(TBX5):c.529C>T (p.His177Tyr)
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NM_181486.4(TBX5):c.537C>T (p.Tyr179=)
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NM_181486.4(TBX5):c.555C>T (p.Ile185=)
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rs142631741
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NM_181486.4(TBX5):c.557T>G (p.Val186Gly)
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rs1555226019
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NM_181486.4(TBX5):c.564G>A (p.Ala188=)
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rs745378130
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NM_181486.4(TBX5):c.564G>T (p.Ala188=)
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NM_181486.4(TBX5):c.57A>C (p.Ala19=)
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rs567785340
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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.593del (p.Asn198fs)
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rs1565939215
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NM_181486.4(TBX5):c.593dup (p.Asn198fs)
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NM_181486.4(TBX5):c.594dup (p.Thr199fs)
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NM_181486.4(TBX5):c.595dup (p.Thr199fs)
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rs1555226005
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NM_181486.4(TBX5):c.611dup (p.His204fs)
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rs863223786
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NM_181486.4(TBX5):c.613G>A (p.Val205Ile)
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NM_181486.4(TBX5):c.613G>T (p.Val205Phe)
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rs190881877
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NM_181486.4(TBX5):c.627T>C (p.Thr209=)
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NM_181486.4(TBX5):c.628_645del (p.Ala210_Thr215del)
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NM_181486.4(TBX5):c.629_632dup (p.Ile212fs)
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rs1555225989
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NM_181486.4(TBX5):c.652C>T (p.Gln218Ter)
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rs2136410724
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NM_181486.4(TBX5):c.658_660del (p.His220del)
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rs1871328960
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NM_181486.4(TBX5):c.663+16A>G
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rs752606041
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NM_181486.4(TBX5):c.663+1G>A
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rs1871328488
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NM_181486.4(TBX5):c.663+6C>G
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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.691C>T (p.Pro231Ser)
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rs2136397905
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NM_181486.4(TBX5):c.698C>T (p.Ala233Val)
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rs1870766147
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NM_181486.4(TBX5):c.69del (p.Cys24fs)
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rs1872004016
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NM_181486.4(TBX5):c.6C>G (p.Ala2=)
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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.717T>C (p.Ser239=)
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NM_181486.4(TBX5):c.719A>G (p.Asp240Gly)
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NM_181486.4(TBX5):c.723C>T (p.Asp241=)
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NM_181486.4(TBX5):c.727del (p.Glu243fs)
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rs1870762150
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NM_181486.4(TBX5):c.730C>T (p.Leu244=)
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NM_181486.4(TBX5):c.731T>C (p.Leu244Pro)
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NM_181486.4(TBX5):c.736A>C (p.Arg246=)
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NM_181486.4(TBX5):c.736A>G (p.Arg246Gly)
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NM_181486.4(TBX5):c.755+11G>A
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NM_181486.4(TBX5):c.755+17del
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rs1412151452
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NM_181486.4(TBX5):c.755+1G>A
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NM_181486.4(TBX5):c.755+1G>T
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rs2136397746
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NM_181486.4(TBX5):c.755+4G>A
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NM_181486.4(TBX5):c.755G>T (p.Ser252Ile)
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rs863223776
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NM_181486.4(TBX5):c.756-2A>G
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rs1869545659
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NM_181486.4(TBX5):c.760G>T (p.Glu254Ter)
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rs2136373802
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NM_181486.4(TBX5):c.765T>A (p.Tyr255Ter)
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rs2136373795
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NM_181486.4(TBX5):c.813_814del (p.His271fs)
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rs1869539814
|
|
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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.841C>G (p.Leu281Val)
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rs760177359
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NM_181486.4(TBX5):c.842T>G (p.Leu281Arg)
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NM_181486.4(TBX5):c.853_865del (p.Ser285fs)
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NM_181486.4(TBX5):c.855C>T (p.Ser285=)
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NM_181486.4(TBX5):c.862G>A (p.Gly288Arg)
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NM_181486.4(TBX5):c.864G>A (p.Gly288=)
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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.884del (p.Asn295fs)
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NM_181486.4(TBX5):c.894C>T (p.Ser298=)
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NM_181486.4(TBX5):c.90C>A (p.Ser30Arg)
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NM_181486.4(TBX5):c.914T>C (p.Leu305Pro)
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NM_181486.4(TBX5):c.920del (p.Pro307fs)
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NM_181486.4(TBX5):c.926_927del (p.Asn309fs)
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rs1593847163
|
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NM_181486.4(TBX5):c.927C>A (p.Asn309Lys)
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NM_181486.4(TBX5):c.937C>G (p.Leu313Val)
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NM_181486.4(TBX5):c.944A>G (p.Gln315Arg)
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NM_181486.4(TBX5):c.958del (p.Ile320fs)
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rs878853750
|
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NM_181486.4(TBX5):c.982+11T>G
|
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NM_181486.4(TBX5):c.982+14C>T
|
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NM_181486.4(TBX5):c.982+1G>A
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rs2136373207
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NM_181486.4(TBX5):c.982+20G>A
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rs1231635306
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NM_181486.4(TBX5):c.982+2T>G
|
rs2136373205
|
|
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NM_181486.4(TBX5):c.983-13C>T
|
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NM_181486.4(TBX5):c.983-8C>T
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NOTCH1, PRO1797HIS
|
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