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_017617.5(NOTCH1):c.852G>A (p.Pro284=)
|
rs2229975
|
0.12249
|
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_017617.5(NOTCH1):c.7233A>G (p.Pro2411=)
|
rs11574911
|
0.02871
|
NM_017617.5(NOTCH1):c.2587+20G>A
|
rs148381982
|
0.01991
|
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_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_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_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_017617.5(NOTCH1):c.1042G>C (p.Ala348Pro)
|
rs201236538
|
0.00418
|
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_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.5018+20C>T
|
rs139772121
|
0.00320
|
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_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_017617.5(NOTCH1):c.5175C>T (p.Thr1725=)
|
rs61751536
|
0.00238
|
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_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_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.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_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_017617.5(NOTCH1):c.2604C>T (p.Val868=)
|
rs115235667
|
0.00103
|
NM_017617.5(NOTCH1):c.2049G>A (p.Ala683=)
|
rs61751553
|
0.00093
|
NM_017617.5(NOTCH1):c.5506G>A (p.Asp1836Asn)
|
rs200100726
|
0.00093
|
NM_017617.5(NOTCH1):c.1862G>A (p.Arg621His)
|
rs138504021
|
0.00092
|
NM_017617.5(NOTCH1):c.6980G>A (p.Arg2327Gln)
|
rs202065858
|
0.00088
|
NM_017617.5(NOTCH1):c.1650C>T (p.Tyr550=)
|
rs371634784
|
0.00086
|
NM_017617.5(NOTCH1):c.1440C>T (p.Pro480=)
|
rs61751555
|
0.00080
|
NM_017617.5(NOTCH1):c.2080G>A (p.Glu694Lys)
|
rs79782048
|
0.00079
|
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_017617.5(NOTCH1):c.1669+15C>T
|
rs576849563
|
0.00068
|
NM_017617.5(NOTCH1):c.4898G>A (p.Arg1633His)
|
rs375018022
|
0.00064
|
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.6836C>T (p.Ala2279Val)
|
rs200370953
|
0.00061
|
NM_017617.5(NOTCH1):c.140+17C>T
|
rs377269443
|
0.00058
|
NM_017617.5(NOTCH1):c.3835C>T (p.Arg1279Cys)
|
rs182330532
|
0.00058
|
NM_017617.5(NOTCH1):c.4917C>T (p.Ala1639=)
|
rs371365065
|
0.00058
|
NM_017617.5(NOTCH1):c.7606G>A (p.Val2536Ile)
|
rs111627256
|
0.00058
|
NM_017617.5(NOTCH1):c.6291G>A (p.Pro2097=)
|
rs201987555
|
0.00057
|
NM_017617.5(NOTCH1):c.1100-14C>T
|
rs562148507
|
0.00056
|
NM_017617.5(NOTCH1):c.311A>G (p.Asn104Ser)
|
rs199654211
|
0.00056
|
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.3970G>A (p.Val1324Met)
|
rs149057410
|
0.00048
|
NM_017617.5(NOTCH1):c.2505C>A (p.Pro835=)
|
rs111756273
|
0.00047
|
NM_017617.5(NOTCH1):c.6409C>T (p.Pro2137Ser)
|
rs372698234
|
0.00046
|
NM_017617.5(NOTCH1):c.4930C>T (p.Leu1644=)
|
rs568700183
|
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.4262A>G (p.Asn1421Ser)
|
rs76473337
|
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_017617.5(NOTCH1):c.2325C>T (p.Tyr775=)
|
rs749686245
|
0.00041
|
NM_017617.5(NOTCH1):c.701G>A (p.Arg234His)
|
rs150737112
|
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_017617.5(NOTCH1):c.2646A>T (p.Ala882=)
|
rs61751550
|
0.00038
|
NM_017617.5(NOTCH1):c.4014G>A (p.Ala1338=)
|
rs377217445
|
0.00035
|
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_017617.5(NOTCH1):c.2674C>T (p.Arg892Cys)
|
rs578228721
|
0.00031
|
NM_017617.5(NOTCH1):c.7223T>C (p.Leu2408Pro)
|
rs767728582
|
0.00031
|
NM_017617.5(NOTCH1):c.1100-8C>T
|
rs545088400
|
0.00030
|
NM_017617.5(NOTCH1):c.2226C>T (p.Asp742=)
|
rs201889382
|
0.00029
|
NM_017617.5(NOTCH1):c.2434G>A (p.Gly812Arg)
|
rs201620755
|
0.00029
|
NM_017617.5(NOTCH1):c.4548C>T (p.Phe1516=)
|
rs199740882
|
0.00029
|
NM_017617.5(NOTCH1):c.4921C>T (p.Pro1641Ser)
|
rs535702482
|
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_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_017617.5(NOTCH1):c.879C>T (p.Thr293=)
|
rs370170212
|
0.00024
|
NM_017617.5(NOTCH1):c.2349C>T (p.Phe783=)
|
rs200092299
|
0.00023
|
NM_017617.5(NOTCH1):c.6898G>A (p.Gly2300Arg)
|
rs587778573
|
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.5604C>T (p.Asp1868=)
|
rs370916730
|
0.00021
|
NM_017617.5(NOTCH1):c.6685G>A (p.Val2229Met)
|
rs202096917
|
0.00021
|
NM_017617.5(NOTCH1):c.7298T>C (p.Phe2433Ser)
|
rs201493851
|
0.00021
|
NM_017617.5(NOTCH1):c.7387G>A (p.Ala2463Thr)
|
rs537210445
|
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.3325+11G>A
|
rs373779257
|
0.00020
|
NM_017617.5(NOTCH1):c.3528C>T (p.His1176=)
|
rs202133782
|
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.6733G>A (p.Gly2245Arg)
|
rs201613894
|
0.00019
|
NM_017617.5(NOTCH1):c.2218G>A (p.Asp740Asn)
|
rs200816814
|
0.00018
|
NM_017617.5(NOTCH1):c.3644-5C>T
|
rs371070297
|
0.00018
|
NM_017617.5(NOTCH1):c.1556-9C>T
|
rs150834418
|
0.00017
|
NM_017617.5(NOTCH1):c.1903+14C>T
|
rs370541870
|
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_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.3011C>T (p.Ser1004Leu)
|
rs201163739
|
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.4866C>T (p.Arg1622=)
|
rs772314400
|
0.00016
|
NM_017617.5(NOTCH1):c.5385-18C>T
|
rs370602147
|
0.00016
|
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.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.2354-5T>C
|
rs371944522
|
0.00014
|
NM_017617.5(NOTCH1):c.3597C>T (p.Leu1199=)
|
rs150666307
|
0.00014
|
NM_017617.5(NOTCH1):c.3901+12G>A
|
rs367600561
|
0.00014
|
NM_017617.5(NOTCH1):c.4905C>T (p.Ala1635=)
|
rs751446074
|
0.00014
|
NM_017617.5(NOTCH1):c.5192C>T (p.Pro1731Leu)
|
rs761345476
|
0.00014
|
NM_017617.5(NOTCH1):c.631A>G (p.Thr211Ala)
|
rs376902925
|
0.00014
|
NM_017617.5(NOTCH1):c.6376G>A (p.Gly2126Arg)
|
rs572960572
|
0.00014
|
NM_017617.5(NOTCH1):c.6509G>A (p.Ser2170Asn)
|
rs200254239
|
0.00014
|
NM_017617.5(NOTCH1):c.1699A>G (p.Ile567Val)
|
rs369067940
|
0.00013
|
NM_017617.5(NOTCH1):c.2206G>A (p.Gly736Arg)
|
rs201662530
|
0.00013
|
NM_017617.5(NOTCH1):c.2326G>A (p.Val776Met)
|
rs377286829
|
0.00013
|
NM_017617.5(NOTCH1):c.851C>T (p.Pro284Leu)
|
rs376104770
|
0.00013
|
NM_017617.5(NOTCH1):c.1099+20G>A
|
rs376139196
|
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.5015G>A (p.Arg1672His)
|
rs372830543
|
0.00012
|
NM_017617.5(NOTCH1):c.5472+9C>T
|
rs200788026
|
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_017617.5(NOTCH1):c.1116C>G (p.Leu372=)
|
rs372623058
|
0.00011
|
NM_017617.5(NOTCH1):c.1837C>T (p.Arg613Cys)
|
rs763988265
|
0.00011
|
NM_017617.5(NOTCH1):c.2359A>G (p.Asn787Asp)
|
rs199672693
|
0.00011
|
NM_017617.5(NOTCH1):c.2863C>T (p.Arg955Cys)
|
rs370797169
|
0.00011
|
NM_017617.5(NOTCH1):c.4015-10T>C
|
rs989085577
|
0.00011
|
NM_017617.5(NOTCH1):c.4828G>T (p.Ala1610Ser)
|
rs369467132
|
0.00011
|
NM_017617.5(NOTCH1):c.5273G>A (p.Arg1758His)
|
rs373841359
|
0.00011
|
NM_017617.5(NOTCH1):c.5301C>T (p.Leu1767=)
|
rs372154581
|
0.00011
|
NM_017617.5(NOTCH1):c.6938G>A (p.Arg2313Gln)
|
rs371069660
|
0.00011
|
NM_017617.5(NOTCH1):c.7400C>T (p.Ser2467Leu)
|
rs375025242
|
0.00011
|
NM_017617.5(NOTCH1):c.1295C>T (p.Thr432Met)
|
rs200562991
|
0.00010
|
NM_017617.5(NOTCH1):c.153C>T (p.Ala51=)
|
rs748048002
|
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.1698C>T (p.Asp566=)
|
rs541992446
|
0.00010
|
NM_017617.5(NOTCH1):c.2636G>A (p.Arg879Gln)
|
rs368011392
|
0.00010
|
NM_017617.5(NOTCH1):c.2740+14C>T
|
rs375880798
|
0.00010
|
NM_017617.5(NOTCH1):c.2969+14G>A
|
rs112192550
|
0.00010
|
NM_017617.5(NOTCH1):c.3771G>A (p.Pro1257=)
|
rs536479643
|
0.00010
|
NM_017617.5(NOTCH1):c.390G>A (p.Pro130=)
|
rs61751559
|
0.00010
|
NM_017617.5(NOTCH1):c.4096G>A (p.Gly1366Ser)
|
rs778270588
|
0.00010
|
NM_017617.5(NOTCH1):c.4372G>A (p.Ala1458Thr)
|
rs200495793
|
0.00010
|
NM_017617.5(NOTCH1):c.4458C>G (p.Pro1486=)
|
rs747236263
|
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_017617.5(NOTCH1):c.695C>A (p.Thr232Asn)
|
rs869025493
|
0.00010
|
NM_017617.5(NOTCH1):c.1904-13G>A
|
rs371069516
|
0.00009
|
NM_017617.5(NOTCH1):c.2352C>T (p.Ser784=)
|
rs774701000
|
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.403+17A>T
|
rs544324440
|
0.00009
|
NM_017617.5(NOTCH1):c.4157C>T (p.Pro1386Leu)
|
rs367710569
|
0.00009
|
NM_017617.5(NOTCH1):c.4290C>T (p.Tyr1430=)
|
rs78857347
|
0.00009
|
NM_017617.5(NOTCH1):c.4296C>T (p.Phe1432=)
|
rs774697636
|
0.00009
|
NM_017617.5(NOTCH1):c.4314C>T (p.Arg1438=)
|
rs757256477
|
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.7645C>T (p.Arg2549Cys)
|
rs200893930
|
0.00009
|
NM_017617.5(NOTCH1):c.999C>T (p.Ser333=)
|
rs751646144
|
0.00009
|
NM_017617.5(NOTCH1):c.147C>T (p.Gly49=)
|
rs746002433
|
0.00008
|
NM_017617.5(NOTCH1):c.1870G>A (p.Ala624Thr)
|
rs372771179
|
0.00008
|
NM_017617.5(NOTCH1):c.2295C>T (p.Gly765=)
|
rs144066379
|
0.00008
|
NM_017617.5(NOTCH1):c.2724C>T (p.Ile908=)
|
rs61751547
|
0.00008
|
NM_017617.5(NOTCH1):c.3519C>T (p.Ala1173=)
|
rs765576108
|
0.00008
|
NM_017617.5(NOTCH1):c.3768G>A (p.Pro1256=)
|
rs779987984
|
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.516C>T (p.Gly172=)
|
rs377685034
|
0.00008
|
NM_017617.5(NOTCH1):c.5193G>A (p.Pro1731=)
|
rs773981674
|
0.00008
|
NM_017617.5(NOTCH1):c.5224G>T (p.Ala1742Ser)
|
rs760669267
|
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_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.2192G>A (p.Arg731Gln)
|
rs587778558
|
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.3468C>T (p.Asn1156=)
|
rs199793164
|
0.00007
|
NM_017617.5(NOTCH1):c.3853G>A (p.Val1285Met)
|
rs756972680
|
0.00007
|
NM_017617.5(NOTCH1):c.3901+19C>T
|
rs373752718
|
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.4927G>A (p.Ala1643Thr)
|
rs566680728
|
0.00007
|
NM_017617.5(NOTCH1):c.5682C>T (p.Gly1894=)
|
rs541372272
|
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_017617.5(NOTCH1):c.1026C>T (p.Ala342=)
|
rs755895298
|
0.00006
|
NM_017617.5(NOTCH1):c.1510C>T (p.Arg504Cys)
|
rs752071569
|
0.00006
|
NM_017617.5(NOTCH1):c.1555+15C>T
|
rs577175237
|
0.00006
|
NM_017617.5(NOTCH1):c.1590C>T (p.Asp530=)
|
rs562807473
|
0.00006
|
NM_017617.5(NOTCH1):c.1945C>A (p.Pro649Thr)
|
rs780710009
|
0.00006
|
NM_017617.5(NOTCH1):c.2207+14C>T
|
rs369626003
|
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.2620G>A (p.Val874Ile)
|
rs776698364
|
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.274G>C (p.Gly92Arg)
|
rs1397413424
|
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.3171+9G>A
|
rs377541723
|
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.339C>T (p.Asn113=)
|
rs369947231
|
0.00006
|
NM_017617.5(NOTCH1):c.3788G>A (p.Arg1263His)
|
rs377594681
|
0.00006
|
NM_017617.5(NOTCH1):c.3807C>T (p.Asn1269=)
|
rs1008389563
|
0.00006
|
NM_017617.5(NOTCH1):c.404-13C>G
|
rs766360723
|
0.00006
|
NM_017617.5(NOTCH1):c.4328C>T (p.Pro1443Leu)
|
rs750010764
|
0.00006
|
NM_017617.5(NOTCH1):c.4371C>T (p.Asp1457=)
|
rs368677987
|
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.4756C>T (p.Arg1586Cys)
|
rs1418474023
|
0.00006
|
NM_017617.5(NOTCH1):c.4833C>T (p.His1611=)
|
rs1308437413
|
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.6457G>A (p.Val2153Met)
|
rs375073677
|
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.6981G>T (p.Arg2327=)
|
rs376490131
|
0.00006
|
NM_017617.5(NOTCH1):c.702C>T (p.Arg234=)
|
rs1392150131
|
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.7292G>A (p.Arg2431Gln)
|
rs753752321
|
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.7617T>G (p.Pro2539=)
|
rs375444185
|
0.00006
|
NM_017617.5(NOTCH1):c.975C>T (p.Asn325=)
|
rs746111102
|
0.00006
|
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.1670-8C>T
|
rs527374781
|
0.00005
|
NM_017617.5(NOTCH1):c.1774C>T (p.Arg592Cys)
|
rs1472690723
|
0.00005
|
NM_017617.5(NOTCH1):c.219A>G (p.Thr73=)
|
rs759781673
|
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.2744C>T (p.Pro915Leu)
|
rs755058802
|
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.3326-4G>A
|
rs773638417
|
0.00005
|
NM_017617.5(NOTCH1):c.3553G>A (p.Asp1185Asn)
|
rs548083258
|
0.00005
|
NM_017617.5(NOTCH1):c.382C>T (p.Arg128Cys)
|
rs371868900
|
0.00005
|
NM_017617.5(NOTCH1):c.4027G>A (p.Ala1343Thr)
|
rs369654090
|
0.00005
|
NM_017617.5(NOTCH1):c.4046C>T (p.Ala1349Val)
|
rs752951296
|
0.00005
|
NM_017617.5(NOTCH1):c.4137G>A (p.Thr1379=)
|
rs762733162
|
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.4981C>T (p.Arg1661Trp)
|
rs998433493
|
0.00005
|
NM_017617.5(NOTCH1):c.5091C>T (p.Thr1697=)
|
rs775882968
|
0.00005
|
NM_017617.5(NOTCH1):c.5100C>T (p.Ala1700=)
|
rs376495459
|
0.00005
|
NM_017617.5(NOTCH1):c.5183C>T (p.Pro1728Leu)
|
rs766358616
|
0.00005
|
NM_017617.5(NOTCH1):c.5223G>A (p.Ala1741=)
|
rs766444406
|
0.00005
|
NM_017617.5(NOTCH1):c.5248G>A (p.Val1750Met)
|
rs368396893
|
0.00005
|
NM_017617.5(NOTCH1):c.5373C>T (p.Ser1791=)
|
rs777013344
|
0.00005
|
NM_017617.5(NOTCH1):c.5765A>G (p.Asn1922Ser)
|
rs765708087
|
0.00005
|
NM_017617.5(NOTCH1):c.6181-15G>A
|
rs375436198
|
0.00005
|
NM_017617.5(NOTCH1):c.6205G>A (p.Ala2069Thr)
|
rs567909904
|
0.00005
|
NM_017617.5(NOTCH1):c.6941T>C (p.Leu2314Pro)
|
rs200929799
|
0.00005
|
NM_017617.5(NOTCH1):c.7016C>A (p.Ala2339Asp)
|
rs773134608
|
0.00005
|
NM_017617.5(NOTCH1):c.7229C>T (p.Pro2410Leu)
|
rs560981171
|
0.00005
|
NM_017617.5(NOTCH1):c.7356G>A (p.Ala2452=)
|
rs781520893
|
0.00005
|
NM_017617.5(NOTCH1):c.7366A>G (p.Ile2456Val)
|
rs777934565
|
0.00005
|
NM_017617.5(NOTCH1):c.7398G>A (p.Thr2466=)
|
rs775056799
|
0.00005
|
NM_017617.5(NOTCH1):c.963C>T (p.Cys321=)
|
rs201158068
|
0.00005
|
NM_017617.5(NOTCH1):c.1023C>T (p.Ser341=)
|
rs200324222
|
0.00004
|
NM_017617.5(NOTCH1):c.1120G>A (p.Asp374Asn)
|
rs770729642
|
0.00004
|
NM_017617.5(NOTCH1):c.1206G>A (p.Ser402=)
|
rs746848165
|
0.00004
|
NM_017617.5(NOTCH1):c.1272G>A (p.Glu424=)
|
rs377342874
|
0.00004
|
NM_017617.5(NOTCH1):c.1376A>G (p.Asn459Ser)
|
rs574143345
|
0.00004
|
NM_017617.5(NOTCH1):c.1441+13G>C
|
rs765812485
|
0.00004
|
NM_017617.5(NOTCH1):c.1670-10C>T
|
rs751747178
|
0.00004
|
NM_017617.5(NOTCH1):c.1864G>A (p.Asp622Asn)
|
rs367873715
|
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.1904-10A>G
|
rs200896186
|
0.00004
|
NM_017617.5(NOTCH1):c.1904-3C>A
|
rs748118679
|
0.00004
|
NM_017617.5(NOTCH1):c.2002C>G (p.Pro668Ala)
|
rs780810308
|
0.00004
|
NM_017617.5(NOTCH1):c.2015-13G>A
|
rs772867940
|
0.00004
|
NM_017617.5(NOTCH1):c.2108G>A (p.Arg703His)
|
rs561126575
|
0.00004
|
NM_017617.5(NOTCH1):c.2126A>G (p.His709Arg)
|
rs373233257
|
0.00004
|
NM_017617.5(NOTCH1):c.2207+6C>T
|
rs545872006
|
0.00004
|
NM_017617.5(NOTCH1):c.2353G>A (p.Gly785Ser)
|
rs764191723
|
0.00004
|
NM_017617.5(NOTCH1):c.2503C>T (p.Pro835Ser)
|
rs377353441
|
0.00004
|
NM_017617.5(NOTCH1):c.2511C>T (p.Pro837=)
|
rs201521828
|
0.00004
|
NM_017617.5(NOTCH1):c.2541C>T (p.Ser847=)
|
rs763472606
|
0.00004
|
NM_017617.5(NOTCH1):c.2576C>T (p.Thr859Met)
|
rs199505287
|
0.00004
|
NM_017617.5(NOTCH1):c.2613C>T (p.Asn871=)
|
rs767614547
|
0.00004
|
NM_017617.5(NOTCH1):c.2727C>T (p.Asp909=)
|
rs752854629
|
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.3017C>T (p.Thr1006Ile)
|
rs367860186
|
0.00004
|
NM_017617.5(NOTCH1):c.3121G>A (p.Gly1041Ser)
|
rs375260339
|
0.00004
|
NM_017617.5(NOTCH1):c.3210C>T (p.Asn1070=)
|
rs768144709
|
0.00004
|
NM_017617.5(NOTCH1):c.3282C>T (p.Cys1094=)
|
rs748813647
|
0.00004
|
NM_017617.5(NOTCH1):c.3320G>A (p.Arg1107Gln)
|
rs756087913
|
0.00004
|
NM_017617.5(NOTCH1):c.3373G>A (p.Ala1125Thr)
|
rs767963898
|
0.00004
|
NM_017617.5(NOTCH1):c.3374C>T (p.Ala1125Val)
|
rs200871631
|
0.00004
|
NM_017617.5(NOTCH1):c.3483G>A (p.Thr1161=)
|
rs369392246
|
0.00004
|
NM_017617.5(NOTCH1):c.3513C>T (p.Cys1171=)
|
rs758860870
|
0.00004
|
NM_017617.5(NOTCH1):c.3700C>T (p.Arg1234Trp)
|
rs761304479
|
0.00004
|
NM_017617.5(NOTCH1):c.3732C>T (p.Cys1244=)
|
rs746262173
|
0.00004
|
NM_017617.5(NOTCH1):c.3887G>A (p.Arg1296His)
|
rs368400902
|
0.00004
|
NM_017617.5(NOTCH1):c.3901+9C>T
|
rs370537711
|
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.3989G>A (p.Arg1330His)
|
rs1180096756
|
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.4222G>A (p.Glu1408Lys)
|
rs587778569
|
0.00004
|
NM_017617.5(NOTCH1):c.4344G>A (p.Ala1448=)
|
rs763497791
|
0.00004
|
NM_017617.5(NOTCH1):c.4426G>A (p.Gly1476Ser)
|
rs776133530
|
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.4587-6C>T
|
rs368601709
|
0.00004
|
NM_017617.5(NOTCH1):c.4635C>T (p.Cys1545=)
|
rs775752102
|
0.00004
|
NM_017617.5(NOTCH1):c.4656G>A (p.Ala1552=)
|
rs375091696
|
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.5168-4G>A
|
rs751709616
|
0.00004
|
NM_017617.5(NOTCH1):c.5219C>T (p.Ala1740Val)
|
rs777962754
|
0.00004
|
NM_017617.5(NOTCH1):c.5384+10C>T
|
rs748380110
|
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.5473-6A>G
|
rs367958280
|
0.00004
|
NM_017617.5(NOTCH1):c.5485G>A (p.Val1829Met)
|
rs765486614
|
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.5638+7G>C
|
rs747630187
|
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.6222C>T (p.Tyr2074=)
|
rs764551640
|
0.00004
|
NM_017617.5(NOTCH1):c.6284G>A (p.Arg2095His)
|
rs756874994
|
0.00004
|
NM_017617.5(NOTCH1):c.6383C>T (p.Pro2128Leu)
|
rs770713134
|
0.00004
|
NM_017617.5(NOTCH1):c.6384G>A (p.Pro2128=)
|
rs746762310
|
0.00004
|
NM_017617.5(NOTCH1):c.6521A>G (p.Lys2174Arg)
|
rs761602495
|
0.00004
|
NM_017617.5(NOTCH1):c.6540G>A (p.Arg2180=)
|
rs549193636
|
0.00004
|
NM_017617.5(NOTCH1):c.6573G>A (p.Leu2191=)
|
rs758591166
|
0.00004
|
NM_017617.5(NOTCH1):c.6577A>G (p.Ser2193Gly)
|
rs1060502236
|
0.00004
|
NM_017617.5(NOTCH1):c.6727G>A (p.Gly2243Ser)
|
rs61751491
|
0.00004
|
NM_017617.5(NOTCH1):c.6750G>A (p.Ala2250=)
|
rs758285863
|
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.7385C>T (p.Pro2462Leu)
|
rs767435492
|
0.00004
|
NM_017617.5(NOTCH1):c.7386C>T (p.Pro2462=)
|
rs369470875
|
0.00004
|
NM_017617.5(NOTCH1):c.7401G>A (p.Ser2467=)
|
rs371306178
|
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_017617.5(NOTCH1):c.7585G>A (p.Val2529Ile)
|
rs1052013977
|
0.00004
|
NM_017617.5(NOTCH1):c.7641C>T (p.Ile2547=)
|
rs370124241
|
0.00004
|
NM_017617.5(NOTCH1):c.7653G>A (p.Pro2551=)
|
rs759443061
|
0.00004
|
NM_017617.5(NOTCH1):c.773T>C (p.Ile258Thr)
|
rs1217015143
|
0.00004
|
NM_017617.5(NOTCH1):c.825C>T (p.Gly275=)
|
rs61751556
|
0.00004
|
NM_017617.5(NOTCH1):c.865+10C>T
|
rs760702631
|
0.00004
|
NM_017617.5(NOTCH1):c.865+16G>A
|
rs199828787
|
0.00004
|
NM_017617.5(NOTCH1):c.924C>T (p.Asn308=)
|
rs765208754
|
0.00004
|
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.1441+4C>T
|
rs764082065
|
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.1554G>A (p.Thr518=)
|
rs190721271
|
0.00003
|
NM_017617.5(NOTCH1):c.1747G>A (p.Gly583Ser)
|
rs757066417
|
0.00003
|
NM_017617.5(NOTCH1):c.1801G>A (p.Glu601Lys)
|
rs749381544
|
0.00003
|
NM_017617.5(NOTCH1):c.1845G>A (p.Gly615=)
|
rs1442503672
|
0.00003
|
NM_017617.5(NOTCH1):c.1863C>T (p.Arg621=)
|
rs749374016
|
0.00003
|
NM_017617.5(NOTCH1):c.1868A>G (p.Asn623Ser)
|
rs769696527
|
0.00003
|
NM_017617.5(NOTCH1):c.1889T>C (p.Leu630Pro)
|
rs752513330
|
0.00003
|
NM_017617.5(NOTCH1):c.1988A>T (p.Glu663Val)
|
rs1468283318
|
0.00003
|
NM_017617.5(NOTCH1):c.2003C>T (p.Pro668Leu)
|
rs576030298
|
0.00003
|
NM_017617.5(NOTCH1):c.2107C>T (p.Arg703Cys)
|
rs746213819
|
0.00003
|
NM_017617.5(NOTCH1):c.210C>T (p.Asn70=)
|
rs763414200
|
0.00003
|
NM_017617.5(NOTCH1):c.225C>T (p.His75=)
|
rs776616401
|
0.00003
|
NM_017617.5(NOTCH1):c.2354-14C>A
|
rs376797282
|
0.00003
|
NM_017617.5(NOTCH1):c.2379C>T (p.Asn793=)
|
rs200565505
|
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.246G>C (p.Val82=)
|
rs1055942607
|
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.2635C>T (p.Arg879Trp)
|
rs587778563
|
0.00003
|
NM_017617.5(NOTCH1):c.2654A>G (p.Gln885Arg)
|
rs764327751
|
0.00003
|
NM_017617.5(NOTCH1):c.2665G>A (p.Gly889Ser)
|
rs557590721
|
0.00003
|
NM_017617.5(NOTCH1):c.2725G>A (p.Asp909Asn)
|
rs763217096
|
0.00003
|
NM_017617.5(NOTCH1):c.2895C>T (p.Asp965=)
|
rs769901855
|
0.00003
|
NM_017617.5(NOTCH1):c.2995G>A (p.Val999Met)
|
rs756840659
|
0.00003
|
NM_017617.5(NOTCH1):c.3012G>A (p.Ser1004=)
|
rs371301397
|
0.00003
|
NM_017617.5(NOTCH1):c.3076G>A (p.Asp1026Asn)
|
rs772134978
|
0.00003
|
NM_017617.5(NOTCH1):c.3110A>C (p.Gln1037Pro)
|
rs1408874772
|
0.00003
|
NM_017617.5(NOTCH1):c.3171+12G>A
|
rs753242532
|
0.00003
|
NM_017617.5(NOTCH1):c.3245G>A (p.Arg1082His)
|
rs758471372
|
0.00003
|
NM_017617.5(NOTCH1):c.3341G>A (p.Arg1114His)
|
rs777684045
|
0.00003
|
NM_017617.5(NOTCH1):c.3354T>C (p.His1118=)
|
rs754633274
|
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.3552C>T (p.Ile1184=)
|
rs773375573
|
0.00003
|
NM_017617.5(NOTCH1):c.3583G>A (p.Gly1195Arg)
|
rs777194812
|
0.00003
|
NM_017617.5(NOTCH1):c.362C>T (p.Thr121Met)
|
rs529738206
|
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.3644-18C>T
|
rs575836415
|
0.00003
|
NM_017617.5(NOTCH1):c.3664G>A (p.Val1222Met)
|
rs112900950
|
0.00003
|
NM_017617.5(NOTCH1):c.3684C>T (p.Pro1228=)
|
rs753711100
|
0.00003
|
NM_017617.5(NOTCH1):c.3724G>A (p.Gly1242Ser)
|
rs558191127
|
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.4356C>T (p.Pro1452=)
|
rs770281345
|
0.00003
|
NM_017617.5(NOTCH1):c.4393C>T (p.Leu1465=)
|
rs779863069
|
0.00003
|
NM_017617.5(NOTCH1):c.4412C>T (p.Ala1471Val)
|
rs376799353
|
0.00003
|
NM_017617.5(NOTCH1):c.4596C>T (p.Tyr1532=)
|
rs751774685
|
0.00003
|
NM_017617.5(NOTCH1):c.4671C>T (p.Asp1557=)
|
rs757602593
|
0.00003
|
NM_017617.5(NOTCH1):c.4713C>T (p.Ala1571=)
|
rs377357743
|
0.00003
|
NM_017617.5(NOTCH1):c.474C>T (p.Phe158=)
|
rs774011231
|
0.00003
|
NM_017617.5(NOTCH1):c.4794C>T (p.Arg1598=)
|
rs558708604
|
0.00003
|
NM_017617.5(NOTCH1):c.4918G>A (p.Ala1640Thr)
|
rs976118697
|
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.5019C>G (p.Gly1673=)
|
rs754785324
|
0.00003
|
NM_017617.5(NOTCH1):c.5103A>G (p.Ala1701=)
|
rs776610176
|
0.00003
|
NM_017617.5(NOTCH1):c.5115G>A (p.Ala1705=)
|
rs201797774
|
0.00003
|
NM_017617.5(NOTCH1):c.5154C>T (p.Ile1718=)
|
rs755764089
|
0.00003
|
NM_017617.5(NOTCH1):c.5168-11C>T
|
rs756486803
|
0.00003
|
NM_017617.5(NOTCH1):c.5220G>A (p.Ala1740=)
|
rs758562368
|
0.00003
|
NM_017617.5(NOTCH1):c.526C>T (p.Arg176Trp)
|
rs575513935
|
0.00003
|
NM_017617.5(NOTCH1):c.5361C>T (p.Leu1787=)
|
rs760147171
|
0.00003
|
NM_017617.5(NOTCH1):c.5384+7G>A
|
rs374235818
|
0.00003
|
NM_017617.5(NOTCH1):c.5407G>A (p.Gly1803Ser)
|
rs369526652
|
0.00003
|
NM_017617.5(NOTCH1):c.5422G>A (p.Asp1808Asn)
|
rs571739078
|
0.00003
|
NM_017617.5(NOTCH1):c.5499C>T (p.Asp1833=)
|
rs754075361
|
0.00003
|
NM_017617.5(NOTCH1):c.5573T>C (p.Met1858Thr)
|
rs375102032
|
0.00003
|
NM_017617.5(NOTCH1):c.5716G>A (p.Ala1906Thr)
|
rs779880917
|
0.00003
|
NM_017617.5(NOTCH1):c.5733C>T (p.Ser1911=)
|
rs61751534
|
0.00003
|
NM_017617.5(NOTCH1):c.5777G>A (p.Arg1926His)
|
rs771407924
|
0.00003
|
NM_017617.5(NOTCH1):c.5892G>A (p.Pro1964=)
|
rs769135138
|
0.00003
|
NM_017617.5(NOTCH1):c.5901G>A (p.Ala1967=)
|
rs762092431
|
0.00003
|
NM_017617.5(NOTCH1):c.621C>T (p.Arg207=)
|
rs756164624
|
0.00003
|
NM_017617.5(NOTCH1):c.6270G>A (p.Thr2090=)
|
rs755970286
|
0.00003
|
NM_017617.5(NOTCH1):c.6294C>T (p.Arg2098=)
|
rs777111928
|
0.00003
|
NM_017617.5(NOTCH1):c.6313A>G (p.Met2105Val)
|
rs748138179
|
0.00003
|
NM_017617.5(NOTCH1):c.6351C>A (p.Asn2117Lys)
|
rs755509796
|
0.00003
|
NM_017617.5(NOTCH1):c.6481C>T (p.Pro2161Ser)
|
rs201518848
|
0.00003
|
NM_017617.5(NOTCH1):c.6665C>T (p.Pro2222Leu)
|
rs779125725
|
0.00003
|
NM_017617.5(NOTCH1):c.6753C>T (p.Ala2251=)
|
rs542875894
|
0.00003
|
NM_017617.5(NOTCH1):c.6760G>A (p.Glu2254Lys)
|
rs1163673587
|
0.00003
|
NM_017617.5(NOTCH1):c.6770C>T (p.Ala2257Val)
|
rs377112509
|
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.7250C>T (p.Pro2417Leu)
|
rs370652630
|
0.00003
|
NM_017617.5(NOTCH1):c.7279G>A (p.Gly2427Ser)
|
rs370722609
|
0.00003
|
NM_017617.5(NOTCH1):c.7357G>A (p.Val2453Met)
|
rs574436740
|
0.00003
|
NM_017617.5(NOTCH1):c.742+20G>A
|
rs754496640
|
0.00003
|
NM_017617.5(NOTCH1):c.7431C>T (p.Thr2477=)
|
rs748244353
|
0.00003
|
NM_017617.5(NOTCH1):c.7432G>A (p.Ala2478Thr)
|
rs779039862
|
0.00003
|
NM_017617.5(NOTCH1):c.7541_7542del (p.Pro2514fs)
|
rs763016003
|
0.00003
|
NM_017617.5(NOTCH1):c.7632G>C (p.Gln2544His)
|
rs754570072
|
0.00003
|
NM_017617.5(NOTCH1):c.870G>A (p.Gln290=)
|
rs779434286
|
0.00003
|
NM_017617.5(NOTCH1):c.927C>T (p.Gly309=)
|
rs753681098
|
0.00003
|
NM_017617.5(NOTCH1):c.102C>T (p.Gly34=)
|
rs777575093
|
0.00002
|
NM_017617.5(NOTCH1):c.1041C>T (p.Gly347=)
|
rs553606088
|
0.00002
|
NM_017617.5(NOTCH1):c.1044C>T (p.Ala348=)
|
rs749267756
|
0.00002
|
NM_017617.5(NOTCH1):c.1136A>G (p.Asn379Ser)
|
rs752255207
|
0.00002
|
NM_017617.5(NOTCH1):c.1221G>A (p.Pro407=)
|
rs367567190
|
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.1269C>T (p.Cys423=)
|
rs775219296
|
0.00002
|
NM_017617.5(NOTCH1):c.1308C>T (p.Phe436=)
|
rs758751583
|
0.00002
|
NM_017617.5(NOTCH1):c.1357G>A (p.Val453Ile)
|
rs761629787
|
0.00002
|
NM_017617.5(NOTCH1):c.1362C>T (p.Asn454=)
|
rs373152976
|
0.00002
|
NM_017617.5(NOTCH1):c.1368C>T (p.Cys456=)
|
rs559866409
|
0.00002
|
NM_017617.5(NOTCH1):c.1441+8G>A
|
rs765031085
|
0.00002
|
NM_017617.5(NOTCH1):c.148G>A (p.Gly50Arg)
|
rs776758626
|
0.00002
|
NM_017617.5(NOTCH1):c.152C>A (p.Ala51Asp)
|
rs771954465
|
0.00002
|
NM_017617.5(NOTCH1):c.1555+18C>G
|
rs376982757
|
0.00002
|
NM_017617.5(NOTCH1):c.1677G>A (p.Thr559=)
|
rs1391226025
|
0.00002
|
NM_017617.5(NOTCH1):c.1693G>A (p.Val565Met)
|
rs750330670
|
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.1758C>A (p.Thr586=)
|
rs369523266
|
0.00002
|
NM_017617.5(NOTCH1):c.1800C>T (p.Cys600=)
|
rs755070916
|
0.00002
|
NM_017617.5(NOTCH1):c.1861C>T (p.Arg621Cys)
|
rs774622686
|
0.00002
|
NM_017617.5(NOTCH1):c.1953C>T (p.Asp651=)
|
rs752168856
|
0.00002
|
NM_017617.5(NOTCH1):c.2014+6C>T
|
rs529806324
|
0.00002
|
NM_017617.5(NOTCH1):c.2014+7G>A
|
rs562353347
|
0.00002
|
NM_017617.5(NOTCH1):c.2068G>A (p.Gly690Arg)
|
rs764112977
|
0.00002
|
NM_017617.5(NOTCH1):c.2086G>A (p.Gly696Ser)
|
rs373556820
|
0.00002
|
NM_017617.5(NOTCH1):c.2112C>T (p.Cys704=)
|
rs757495549
|
0.00002
|
NM_017617.5(NOTCH1):c.2207+7G>A
|
rs138935812
|
0.00002
|
NM_017617.5(NOTCH1):c.2217C>T (p.Cys739=)
|
rs752226005
|
0.00002
|
NM_017617.5(NOTCH1):c.226G>A (p.Val76Met)
|
rs532574807
|
0.00002
|
NM_017617.5(NOTCH1):c.2297G>T (p.Gly766Val)
|
rs374434131
|
0.00002
|
NM_017617.5(NOTCH1):c.242G>A (p.Gly81Asp)
|
rs749152413
|
0.00002
|
NM_017617.5(NOTCH1):c.2441A>G (p.Lys814Arg)
|
rs747529236
|
0.00002
|
NM_017617.5(NOTCH1):c.2468-20C>T
|
rs756381967
|
0.00002
|
NM_017617.5(NOTCH1):c.2482G>A (p.Val828Met)
|
rs772945824
|
0.00002
|
NM_017617.5(NOTCH1):c.2523C>T (p.Gly841=)
|
rs779908981
|
0.00002
|
NM_017617.5(NOTCH1):c.2588-9G>T
|
rs757973986
|
0.00002
|
NM_017617.5(NOTCH1):c.2741-18C>T
|
rs775954871
|
0.00002
|
NM_017617.5(NOTCH1):c.2754C>T (p.Asn918=)
|
rs373787791
|
0.00002
|
NM_017617.5(NOTCH1):c.2812C>T (p.Arg938Trp)
|
rs554142958
|
0.00002
|
NM_017617.5(NOTCH1):c.2835C>G (p.Asp945Glu)
|
rs756174213
|
0.00002
|
NM_017617.5(NOTCH1):c.2903C>T (p.Thr968Met)
|
rs781201059
|
0.00002
|
NM_017617.5(NOTCH1):c.2917G>A (p.Ala973Thr)
|
rs200699541
|
0.00002
|
NM_017617.5(NOTCH1):c.2928C>T (p.Ser976=)
|
rs534911025
|
0.00002
|
NM_017617.5(NOTCH1):c.2937C>T (p.His979=)
|
rs1406216361
|
0.00002
|
NM_017617.5(NOTCH1):c.2969+7G>A
|
rs770026189
|
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.3269C>G (p.Thr1090Ser)
|
rs761508282
|
0.00002
|
NM_017617.5(NOTCH1):c.3286G>A (p.Val1096Met)
|
rs369730402
|
0.00002
|
NM_017617.5(NOTCH1):c.3325+9C>A
|
rs1413516206
|
0.00002
|
NM_017617.5(NOTCH1):c.334C>T (p.Arg112Cys)
|
rs1399392600
|
0.00002
|
NM_017617.5(NOTCH1):c.3503C>T (p.Ser1168Phe)
|
rs375190395
|
0.00002
|
NM_017617.5(NOTCH1):c.3564C>T (p.Leu1188=)
|
rs367932079
|
0.00002
|
NM_017617.5(NOTCH1):c.363G>A (p.Thr121=)
|
rs777400734
|
0.00002
|
NM_017617.5(NOTCH1):c.3642G>A (p.Gln1214=)
|
rs577243605
|
0.00002
|
NM_017617.5(NOTCH1):c.3679C>T (p.Pro1227Ser)
|
rs777652834
|
0.00002
|
NM_017617.5(NOTCH1):c.3701G>A (p.Arg1234Gln)
|
rs773926521
|
0.00002
|
NM_017617.5(NOTCH1):c.3741G>C (p.Gln1247His)
|
rs781658171
|
0.00002
|
NM_017617.5(NOTCH1):c.3748G>A (p.Gly1250Ser)
|
rs771192471
|
0.00002
|
NM_017617.5(NOTCH1):c.3770C>T (p.Pro1257Leu)
|
rs200245794
|
0.00002
|
NM_017617.5(NOTCH1):c.3777C>T (p.Phe1259=)
|
rs761586260
|
0.00002
|
NM_017617.5(NOTCH1):c.3859C>T (p.Arg1287Cys)
|
rs751275854
|
0.00002
|
NM_017617.5(NOTCH1):c.3861C>T (p.Arg1287=)
|
rs758031388
|
0.00002
|
NM_017617.5(NOTCH1):c.3900C>T (p.Thr1300=)
|
rs201791826
|
0.00002
|
NM_017617.5(NOTCH1):c.393C>T (p.Pro131=)
|
rs1250243662
|
0.00002
|
NM_017617.5(NOTCH1):c.4067G>A (p.Arg1356His)
|
rs864622727
|
0.00002
|
NM_017617.5(NOTCH1):c.4251C>T (p.Pro1417=)
|
rs1453185145
|
0.00002
|
NM_017617.5(NOTCH1):c.4252G>A (p.Ala1418Thr)
|
rs1290588213
|
0.00002
|
NM_017617.5(NOTCH1):c.4308C>T (p.Ala1436=)
|
rs749702298
|
0.00002
|
NM_017617.5(NOTCH1):c.4312C>T (p.Arg1438Cys)
|
rs746077264
|
0.00002
|
NM_017617.5(NOTCH1):c.4326G>A (p.Pro1442=)
|
rs376469653
|
0.00002
|
NM_017617.5(NOTCH1):c.4329G>A (p.Pro1443=)
|
rs1466689418
|
0.00002
|
NM_017617.5(NOTCH1):c.4348G>A (p.Glu1450Lys)
|
rs147841035
|
0.00002
|
NM_017617.5(NOTCH1):c.4543C>T (p.Leu1515Phe)
|
rs765839822
|
0.00002
|
NM_017617.5(NOTCH1):c.4587-11G>A
|
rs778356792
|
0.00002
|
NM_017617.5(NOTCH1):c.4698C>T (p.Pro1566=)
|
rs200462746
|
0.00002
|
NM_017617.5(NOTCH1):c.4746G>A (p.Pro1582=)
|
rs886038974
|
0.00002
|
NM_017617.5(NOTCH1):c.5004C>T (p.Pro1668=)
|
rs1200928521
|
0.00002
|
NM_017617.5(NOTCH1):c.5010C>T (p.Asp1670=)
|
rs780348772
|
0.00002
|
NM_017617.5(NOTCH1):c.5023A>G (p.Ile1675Val)
|
rs375408767
|
0.00002
|
NM_017617.5(NOTCH1):c.5050C>A (p.Gln1684Lys)
|
rs1843029493
|
0.00002
|
NM_017617.5(NOTCH1):c.5069C>T (p.Ser1690Leu)
|
rs552065719
|
0.00002
|
NM_017617.5(NOTCH1):c.5167+19C>T
|
rs751046078
|
0.00002
|
NM_017617.5(NOTCH1):c.5190G>A (p.Pro1730=)
|
rs369854704
|
0.00002
|
NM_017617.5(NOTCH1):c.5208C>T (p.Phe1736=)
|
rs781386640
|
0.00002
|
NM_017617.5(NOTCH1):c.5340G>A (p.Lys1780=)
|
rs148187717
|
0.00002
|
NM_017617.5(NOTCH1):c.5398G>A (p.Ala1800Thr)
|
rs569203312
|
0.00002
|
NM_017617.5(NOTCH1):c.5471G>A (p.Arg1824Gln)
|
rs765309913
|
0.00002
|
NM_017617.5(NOTCH1):c.5562C>T (p.Arg1854=)
|
rs777125560
|
0.00002
|
NM_017617.5(NOTCH1):c.5639-17C>T
|
rs749795813
|
0.00002
|
NM_017617.5(NOTCH1):c.5720C>T (p.Pro1907Leu)
|
rs970443298
|
0.00002
|
NM_017617.5(NOTCH1):c.5830G>A (p.Ala1944Thr)
|
rs371414501
|
0.00002
|
NM_017617.5(NOTCH1):c.5837G>A (p.Arg1946His)
|
rs777423973
|
0.00002
|
NM_017617.5(NOTCH1):c.5916C>T (p.Asp1972=)
|
rs1045892978
|
0.00002
|
NM_017617.5(NOTCH1):c.5934+8G>A
|
rs747822127
|
0.00002
|
NM_017617.5(NOTCH1):c.6228C>T (p.Thr2076=)
|
rs531156367
|
0.00002
|
NM_017617.5(NOTCH1):c.6229G>A (p.Ala2077Thr)
|
rs759749364
|
0.00002
|
NM_017617.5(NOTCH1):c.6321C>T (p.His2107=)
|
rs532201830
|
0.00002
|
NM_017617.5(NOTCH1):c.6365C>T (p.Pro2122Leu)
|
rs767587816
|
0.00002
|
NM_017617.5(NOTCH1):c.6366G>A (p.Pro2122=)
|
rs762003410
|
0.00002
|
NM_017617.5(NOTCH1):c.645C>T (p.Cys215=)
|
rs974424401
|
0.00002
|
NM_017617.5(NOTCH1):c.6498G>A (p.Leu2166=)
|
rs201289055
|
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.6948C>T (p.Ser2316=)
|
rs771142030
|
0.00002
|
NM_017617.5(NOTCH1):c.6979C>T (p.Arg2327Trp)
|
rs751007903
|
0.00002
|
NM_017617.5(NOTCH1):c.708G>A (p.Thr236=)
|
rs774679591
|
0.00002
|
NM_017617.5(NOTCH1):c.7158G>A (p.Gln2386=)
|
rs371664086
|
0.00002
|
NM_017617.5(NOTCH1):c.7224G>A (p.Leu2408=)
|
rs761927126
|
0.00002
|
NM_017617.5(NOTCH1):c.723C>T (p.His241=)
|
rs11574873
|
0.00002
|
NM_017617.5(NOTCH1):c.7260C>T (p.Gly2420=)
|
rs1032110986
|
0.00002
|
NM_017617.5(NOTCH1):c.7278C>T (p.Ser2426=)
|
rs757461161
|
0.00002
|
NM_017617.5(NOTCH1):c.7284C>T (p.His2428=)
|
rs1248029549
|
0.00002
|
NM_017617.5(NOTCH1):c.7372C>A (p.Pro2458Thr)
|
rs752802795
|
0.00002
|
NM_017617.5(NOTCH1):c.742+12C>T
|
rs1303732934
|
0.00002
|
NM_017617.5(NOTCH1):c.7458G>A (p.Ser2486=)
|
rs781225824
|
0.00002
|
NM_017617.5(NOTCH1):c.7605C>T (p.Gly2535=)
|
rs757253280
|
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_017617.5(NOTCH1):c.948C>T (p.His316=)
|
rs904456632
|
0.00002
|
NM_017617.5(NOTCH1):c.1000G>A (p.Glu334Lys)
|
rs779061035
|
0.00001
|
NM_017617.5(NOTCH1):c.1007T>C (p.Ile336Thr)
|
rs753734433
|
0.00001
|
NM_017617.5(NOTCH1):c.1039G>A (p.Gly347Ser)
|
rs746187371
|
0.00001
|
NM_017617.5(NOTCH1):c.1077C>T (p.Cys359=)
|
rs202235419
|
0.00001
|
NM_017617.5(NOTCH1):c.1094G>A (p.Arg365His)
|
rs775991013
|
0.00001
|
NM_017617.5(NOTCH1):c.1099+16C>T
|
rs777024482
|
0.00001
|
NM_017617.5(NOTCH1):c.1099+8C>T
|
rs555823368
|
0.00001
|
NM_017617.5(NOTCH1):c.1099+9C>T
|
rs1057523772
|
0.00001
|
NM_017617.5(NOTCH1):c.1100-13G>A
|
rs762047198
|
0.00001
|
NM_017617.5(NOTCH1):c.1100-7T>C
|
rs376603720
|
0.00001
|
NM_017617.5(NOTCH1):c.1135A>C (p.Asn379His)
|
rs758017301
|
0.00001
|
NM_017617.5(NOTCH1):c.1161C>T (p.Cys387=)
|
rs761176244
|
0.00001
|
NM_017617.5(NOTCH1):c.1185G>A (p.Lys395=)
|
rs774399901
|
0.00001
|
NM_017617.5(NOTCH1):c.1188C>G (p.Ala396=)
|
rs779573597
|
0.00001
|
NM_017617.5(NOTCH1):c.1205C>T (p.Ser402Leu)
|
rs1037236860
|
0.00001
|
NM_017617.5(NOTCH1):c.1214C>T (p.Thr405Met)
|
rs370746889
|
0.00001
|
NM_017617.5(NOTCH1):c.1215G>A (p.Thr405=)
|
rs747864683
|
0.00001
|
NM_017617.5(NOTCH1):c.1220C>T (p.Pro407Leu)
|
rs754529382
|
0.00001
|
NM_017617.5(NOTCH1):c.1236C>T (p.Asp412=)
|
rs780769573
|
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.1255+9C>T
|
rs775401272
|
0.00001
|
NM_017617.5(NOTCH1):c.1266C>G (p.Pro422=)
|
rs762533002
|
0.00001
|
NM_017617.5(NOTCH1):c.1275T>C (p.His425=)
|
rs1443278185
|
0.00001
|
NM_017617.5(NOTCH1):c.1278G>A (p.Ala426=)
|
rs781782610
|
0.00001
|
NM_017617.5(NOTCH1):c.1293C>T (p.Asn431=)
|
rs372751855
|
0.00001
|
NM_017617.5(NOTCH1):c.1296G>T (p.Thr432=)
|
rs747450858
|
0.00001
|
NM_017617.5(NOTCH1):c.1309G>A (p.Glu437Lys)
|
rs1060502238
|
0.00001
|
NM_017617.5(NOTCH1):c.1335G>A (p.Thr445=)
|
rs564566136
|
0.00001
|
NM_017617.5(NOTCH1):c.1356C>T (p.Asp452=)
|
rs767527946
|
0.00001
|
NM_017617.5(NOTCH1):c.1369G>A (p.Val457Ile)
|
rs573153379
|
0.00001
|
NM_017617.5(NOTCH1):c.1380G>A (p.Pro460=)
|
rs368963607
|
0.00001
|
NM_017617.5(NOTCH1):c.1384C>G (p.Gln462Glu)
|
rs747502723
|
0.00001
|
NM_017617.5(NOTCH1):c.1392C>T (p.Asp464=)
|
rs748499336
|
0.00001
|
NM_017617.5(NOTCH1):c.1407C>T (p.Asp469=)
|
rs1405995623
|
0.00001
|
NM_017617.5(NOTCH1):c.1441+12G>A
|
rs759506343
|
0.00001
|
NM_017617.5(NOTCH1):c.1442-7C>T
|
rs1410661374
|
0.00001
|
NM_017617.5(NOTCH1):c.1461C>T (p.Cys487=)
|
rs754876256
|
0.00001
|
NM_017617.5(NOTCH1):c.1462G>A (p.Glu488Lys)
|
rs753661188
|
0.00001
|
NM_017617.5(NOTCH1):c.1476C>T (p.Asp492=)
|
rs749990260
|
0.00001
|
NM_017617.5(NOTCH1):c.1512C>A (p.Arg504=)
|
rs763271019
|
0.00001
|
NM_017617.5(NOTCH1):c.1555+17C>A
|
rs760877301
|
0.00001
|
NM_017617.5(NOTCH1):c.1555+9C>T
|
rs764637985
|
0.00001
|
NM_017617.5(NOTCH1):c.1556-15C>T
|
rs769589921
|
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.1636G>A (p.Gly546Arg)
|
rs764185451
|
0.00001
|
NM_017617.5(NOTCH1):c.1641C>G (p.Pro547=)
|
rs759501071
|
0.00001
|
NM_017617.5(NOTCH1):c.1644C>T (p.Asn548=)
|
rs776488663
|
0.00001
|
NM_017617.5(NOTCH1):c.1648T>G (p.Tyr550Asp)
|
rs1843262478
|
0.00001
|
NM_017617.5(NOTCH1):c.1669+12C>T
|
rs780649182
|
0.00001
|
NM_017617.5(NOTCH1):c.1669+5G>A
|
rs771590616
|
0.00001
|
NM_017617.5(NOTCH1):c.1670-7G>T
|
rs1242028632
|
0.00001
|
NM_017617.5(NOTCH1):c.1676C>T (p.Thr559Met)
|
rs376055493
|
0.00001
|
NM_017617.5(NOTCH1):c.1683G>A (p.Thr561=)
|
rs766351093
|
0.00001
|
NM_017617.5(NOTCH1):c.1701C>T (p.Ile567=)
|
rs773932034
|
0.00001
|
NM_017617.5(NOTCH1):c.1710C>T (p.Cys570=)
|
rs762590262
|
0.00001
|
NM_017617.5(NOTCH1):c.1716C>T (p.Pro572=)
|
rs746366255
|
0.00001
|
NM_017617.5(NOTCH1):c.1721C>T (p.Pro574Leu)
|
rs771263341
|
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.1761C>T (p.Phe587=)
|
rs1176092277
|
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.1838G>A (p.Arg613His)
|
rs369522885
|
0.00001
|
NM_017617.5(NOTCH1):c.1842C>T (p.His614=)
|
rs375349485
|
0.00001
|
NM_017617.5(NOTCH1):c.1843G>A (p.Gly615Arg)
|
rs764942073
|
0.00001
|
NM_017617.5(NOTCH1):c.1903+6C>T
|
rs753388966
|
0.00001
|
NM_017617.5(NOTCH1):c.1904-4T>C
|
rs552137707
|
0.00001
|
NM_017617.5(NOTCH1):c.1904-7C>T
|
rs771097212
|
0.00001
|
NM_017617.5(NOTCH1):c.1918A>G (p.Ile640Val)
|
rs1307313338
|
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.1951G>A (p.Asp651Asn)
|
rs1182867386
|
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.197C>T (p.Thr66Ile)
|
rs752133245
|
0.00001
|
NM_017617.5(NOTCH1):c.1986C>T (p.Tyr662=)
|
rs749156185
|
0.00001
|
NM_017617.5(NOTCH1):c.1987G>A (p.Glu663Lys)
|
rs548000491
|
0.00001
|
NM_017617.5(NOTCH1):c.2015-14C>T
|
rs149013721
|
0.00001
|
NM_017617.5(NOTCH1):c.2015-8G>T
|
rs1272176843
|
0.00001
|
NM_017617.5(NOTCH1):c.2038G>A (p.Asp680Asn)
|
rs749761941
|
0.00001
|
NM_017617.5(NOTCH1):c.2047G>A (p.Ala683Thr)
|
rs756434709
|
0.00001
|
NM_017617.5(NOTCH1):c.2067C>T (p.Asn689=)
|
rs751619078
|
0.00001
|
NM_017617.5(NOTCH1):c.2074A>G (p.Thr692Ala)
|
rs1385815860
|
0.00001
|
NM_017617.5(NOTCH1):c.2079C>T (p.Cys693=)
|
rs753710836
|
0.00001
|
NM_017617.5(NOTCH1):c.2115C>T (p.Pro705=)
|
rs777838108
|
0.00001
|
NM_017617.5(NOTCH1):c.2116G>A (p.Glu706Lys)
|
rs368494947
|
0.00001
|
NM_017617.5(NOTCH1):c.211G>A (p.Ala71Thr)
|
rs753106233
|
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.2134A>G (p.Thr712Ala)
|
rs200692749
|
0.00001
|
NM_017617.5(NOTCH1):c.213C>T (p.Ala71=)
|
rs765437443
|
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.2207+9C>T
|
rs751315476
|
0.00001
|
NM_017617.5(NOTCH1):c.2261A>G (p.Asn754Ser)
|
rs761072761
|
0.00001
|
NM_017617.5(NOTCH1):c.230T>G (p.Val77Gly)
|
rs760700593
|
0.00001
|
NM_017617.5(NOTCH1):c.2311A>G (p.Met771Val)
|
rs371117125
|
0.00001
|
NM_017617.5(NOTCH1):c.2339G>A (p.Arg780Gln)
|
rs750859847
|
0.00001
|
NM_017617.5(NOTCH1):c.2340G>A (p.Arg780=)
|
rs767935604
|
0.00001
|
NM_017617.5(NOTCH1):c.2353+15C>T
|
rs773271446
|
0.00001
|
NM_017617.5(NOTCH1):c.2425G>A (p.Asp809Asn)
|
rs762729988
|
0.00001
|
NM_017617.5(NOTCH1):c.244G>A (p.Val82Met)
|
rs571831870
|
0.00001
|
NM_017617.5(NOTCH1):c.2464A>G (p.Thr822Ala)
|
rs1245057191
|
0.00001
|
NM_017617.5(NOTCH1):c.2468-4G>A
|
rs752696927
|
0.00001
|
NM_017617.5(NOTCH1):c.2474C>T (p.Thr825Met)
|
rs754775789
|
0.00001
|
NM_017617.5(NOTCH1):c.2497T>A (p.Cys833Ser)
|
rs775954717
|
0.00001
|
NM_017617.5(NOTCH1):c.2501C>T (p.Ala834Val)
|
rs202144877
|
0.00001
|
NM_017617.5(NOTCH1):c.2510C>G (p.Pro837Arg)
|
rs777663026
|
0.00001
|
NM_017617.5(NOTCH1):c.2564G>A (p.Cys855Tyr)
|
rs759862433
|
0.00001
|
NM_017617.5(NOTCH1):c.2577G>A (p.Thr859=)
|
rs747189377
|
0.00001
|
NM_017617.5(NOTCH1):c.2588-15C>T
|
rs757061203
|
0.00001
|
NM_017617.5(NOTCH1):c.2597G>C (p.Cys866Ser)
|
rs763469662
|
0.00001
|
NM_017617.5(NOTCH1):c.2605G>A (p.Asp869Asn)
|
rs1420968156
|
0.00001
|
NM_017617.5(NOTCH1):c.2611A>G (p.Asn871Asp)
|
rs200235006
|
0.00001
|
NM_017617.5(NOTCH1):c.2614G>A (p.Glu872Lys)
|
rs762050048
|
0.00001
|
NM_017617.5(NOTCH1):c.2630C>T (p.Pro877Leu)
|
rs371050668
|
0.00001
|
NM_017617.5(NOTCH1):c.2631G>A (p.Pro877=)
|
rs777573424
|
0.00001
|
NM_017617.5(NOTCH1):c.2641G>A (p.Gly881Ser)
|
rs756555345
|
0.00001
|
NM_017617.5(NOTCH1):c.2643C>T (p.Gly881=)
|
rs750777328
|
0.00001
|
NM_017617.5(NOTCH1):c.2644G>A (p.Ala882Thr)
|
rs767886377
|
0.00001
|
NM_017617.5(NOTCH1):c.2675G>A (p.Arg892His)
|
rs199506721
|
0.00001
|
NM_017617.5(NOTCH1):c.2692G>A (p.Gly898Ser)
|
rs748777783
|
0.00001
|
NM_017617.5(NOTCH1):c.2704C>T (p.Arg902Cys)
|
rs1448345366
|
0.00001
|
NM_017617.5(NOTCH1):c.2712C>T (p.Cys904=)
|
rs369645726
|
0.00001
|
NM_017617.5(NOTCH1):c.2719G>A (p.Asp907Asn)
|
rs757628476
|
0.00001
|
NM_017617.5(NOTCH1):c.2735G>A (p.Arg912Gln)
|
rs773185855
|
0.00001
|
NM_017617.5(NOTCH1):c.2741-13C>T
|
rs545249713
|
0.00001
|
NM_017617.5(NOTCH1):c.2741-9C>A
|
rs758820499
|
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.2806G>A (p.Gly936Ser)
|
rs773847667
|
0.00001
|
NM_017617.5(NOTCH1):c.2820T>A (p.Thr940=)
|
rs199912866
|
0.00001
|
NM_017617.5(NOTCH1):c.2823C>T (p.Phe941=)
|
rs749408618
|
0.00001
|
NM_017617.5(NOTCH1):c.2869G>A (p.Gly957Arg)
|
rs773902766
|
0.00001
|
NM_017617.5(NOTCH1):c.2876A>C (p.Asn959Thr)
|
rs1358942894
|
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.2951C>T (p.Thr984Met)
|
rs769132985
|
0.00001
|
NM_017617.5(NOTCH1):c.2970-15C>G
|
rs749173624
|
0.00001
|
NM_017617.5(NOTCH1):c.2983G>A (p.Gly995Ser)
|
rs868369610
|
0.00001
|
NM_017617.5(NOTCH1):c.3015C>T (p.Phe1005=)
|
rs991348745
|
0.00001
|
NM_017617.5(NOTCH1):c.3033C>T (p.Pro1011=)
|
rs941714067
|
0.00001
|
NM_017617.5(NOTCH1):c.3034G>A (p.Gly1012Ser)
|
rs776957107
|
0.00001
|
NM_017617.5(NOTCH1):c.3040A>T (p.Thr1014Ser)
|
rs1181594680
|
0.00001
|
NM_017617.5(NOTCH1):c.3061G>A (p.Asp1021Asn)
|
rs760908627
|
0.00001
|
NM_017617.5(NOTCH1):c.3068A>G (p.Asn1023Ser)
|
rs937138982
|
0.00001
|
NM_017617.5(NOTCH1):c.3075C>T (p.Cys1025=)
|
rs764208271
|
0.00001
|
NM_017617.5(NOTCH1):c.3095A>G (p.His1032Arg)
|
rs1397562033
|
0.00001
|
NM_017617.5(NOTCH1):c.3100G>A (p.Gly1034Ser)
|
rs981281975
|
0.00001
|
NM_017617.5(NOTCH1):c.3120C>T (p.Cys1040=)
|
rs1189026962
|
0.00001
|
NM_017617.5(NOTCH1):c.3141C>T (p.Cys1047=)
|
rs1221606038
|
0.00001
|
NM_017617.5(NOTCH1):c.314C>G (p.Ala105Gly)
|
rs1212259128
|
0.00001
|
NM_017617.5(NOTCH1):c.3160C>A (p.Pro1054Thr)
|
rs1018501056
|
0.00001
|
NM_017617.5(NOTCH1):c.3172-7T>C
|
rs370144650
|
0.00001
|
NM_017617.5(NOTCH1):c.3190G>A (p.Asp1064Asn)
|
rs375931404
|
0.00001
|
NM_017617.5(NOTCH1):c.3211G>A (p.Gly1071Ser)
|
rs587778566
|
0.00001
|
NM_017617.5(NOTCH1):c.3213C>T (p.Gly1071=)
|
rs528993886
|
0.00001
|
NM_017617.5(NOTCH1):c.3214G>A (p.Gly1072Ser)
|
rs780582836
|
0.00001
|
NM_017617.5(NOTCH1):c.3231C>T (p.Thr1077=)
|
rs781656729
|
0.00001
|
NM_017617.5(NOTCH1):c.3244C>T (p.Arg1082Cys)
|
rs1386494518
|
0.00001
|
NM_017617.5(NOTCH1):c.3261C>T (p.Ser1087=)
|
rs543586029
|
0.00001
|
NM_017617.5(NOTCH1):c.3285C>T (p.Asp1095=)
|
rs770364830
|
0.00001
|
NM_017617.5(NOTCH1):c.3326-5C>T
|
rs765346348
|
0.00001
|
NM_017617.5(NOTCH1):c.3350A>G (p.Gln1117Arg)
|
rs764816819
|
0.00001
|
NM_017617.5(NOTCH1):c.3363C>G (p.Leu1121=)
|
rs534486656
|
0.00001
|
NM_017617.5(NOTCH1):c.3387C>T (p.His1129=)
|
rs1843117451
|
0.00001
|
NM_017617.5(NOTCH1):c.3404C>T (p.Ala1135Val)
|
rs370300490
|
0.00001
|
NM_017617.5(NOTCH1):c.3408C>G (p.Gly1136=)
|
rs1171001832
|
0.00001
|
NM_017617.5(NOTCH1):c.3441C>T (p.Asp1147=)
|
rs377488165
|
0.00001
|
NM_017617.5(NOTCH1):c.3442G>A (p.Glu1148Lys)
|
rs1060502239
|
0.00001
|
NM_017617.5(NOTCH1):c.3469G>A (p.Gly1157Arg)
|
rs549630973
|
0.00001
|
NM_017617.5(NOTCH1):c.347C>T (p.Thr116Ile)
|
rs1308100068
|
0.00001
|
NM_017617.5(NOTCH1):c.3482C>T (p.Thr1161Met)
|
rs769903954
|
0.00001
|
NM_017617.5(NOTCH1):c.3495C>T (p.Gly1165=)
|
rs778909557
|
0.00001
|
NM_017617.5(NOTCH1):c.3496G>A (p.Gly1166Ser)
|
rs754815022
|
0.00001
|
NM_017617.5(NOTCH1):c.3514G>A (p.Val1172Met)
|
rs1234358553
|
0.00001
|
NM_017617.5(NOTCH1):c.351C>T (p.Cys117=)
|
rs768642611
|
0.00001
|
NM_017617.5(NOTCH1):c.3529G>A (p.Gly1177Arg)
|
rs754086177
|
0.00001
|
NM_017617.5(NOTCH1):c.3555C>T (p.Asp1185=)
|
rs530064649
|
0.00001
|
NM_017617.5(NOTCH1):c.355C>T (p.Leu119=)
|
rs1458520239
|
0.00001
|
NM_017617.5(NOTCH1):c.3569A>G (p.His1190Arg)
|
rs775438678
|
0.00001
|
NM_017617.5(NOTCH1):c.3570C>A (p.His1190Gln)
|
rs769619561
|
0.00001
|
NM_017617.5(NOTCH1):c.3582C>T (p.Asn1194=)
|
rs746547529
|
0.00001
|
NM_017617.5(NOTCH1):c.3598G>A (p.Asp1200Asn)
|
rs544640305
|
0.00001
|
NM_017617.5(NOTCH1):c.360C>T (p.Leu120=)
|
rs541839947
|
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.3643+13G>C
|
rs759356560
|
0.00001
|
NM_017617.5(NOTCH1):c.3643+9C>T
|
rs764985096
|
0.00001
|
NM_017617.5(NOTCH1):c.3644-7C>G
|
rs1243301340
|
0.00001
|
NM_017617.5(NOTCH1):c.365T>G (p.Leu122Arg)
|
rs984769025
|
0.00001
|
NM_017617.5(NOTCH1):c.3663C>T (p.Asn1221=)
|
rs780527525
|
0.00001
|
NM_017617.5(NOTCH1):c.3669C>T (p.Asp1223=)
|
rs781546439
|
0.00001
|
NM_017617.5(NOTCH1):c.3685G>A (p.Val1229Ile)
|
rs766198119
|
0.00001
|
NM_017617.5(NOTCH1):c.3693C>T (p.Pro1231=)
|
rs1330174392
|
0.00001
|
NM_017617.5(NOTCH1):c.3694G>A (p.Val1232Met)
|
rs750169914
|
0.00001
|
NM_017617.5(NOTCH1):c.3706C>T (p.Pro1236Ser)
|
rs749988739
|
0.00001
|
NM_017617.5(NOTCH1):c.3710A>G (p.Lys1237Arg)
|
rs576434469
|
0.00001
|
NM_017617.5(NOTCH1):c.3723C>T (p.Asn1241=)
|
rs369637862
|
0.00001
|
NM_017617.5(NOTCH1):c.3733G>A (p.Val1245Met)
|
rs926643780
|
0.00001
|
NM_017617.5(NOTCH1):c.3787C>T (p.Arg1263Cys)
|
rs1415111675
|
0.00001
|
NM_017617.5(NOTCH1):c.3829G>A (p.Asp1277Asn)
|
rs550872754
|
0.00001
|
NM_017617.5(NOTCH1):c.3862G>A (p.Val1288Ile)
|
rs752264096
|
0.00001
|
NM_017617.5(NOTCH1):c.3866A>G (p.Asn1289Ser)
|
rs1281437674
|
0.00001
|
NM_017617.5(NOTCH1):c.3874C>T (p.His1292Tyr)
|
rs372348365
|
0.00001
|
NM_017617.5(NOTCH1):c.3879C>T (p.Cys1293=)
|
rs777242726
|
0.00001
|
NM_017617.5(NOTCH1):c.389C>T (p.Pro130Leu)
|
rs750539322
|
0.00001
|
NM_017617.5(NOTCH1):c.3901G>A (p.Gly1301Arg)
|
rs1227711223
|
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.3960C>T (p.Gly1320=)
|
rs1843089049
|
0.00001
|
NM_017617.5(NOTCH1):c.3988C>T (p.Arg1330Cys)
|
rs1249540119
|
0.00001
|
NM_017617.5(NOTCH1):c.3990C>T (p.Arg1330=)
|
rs775448292
|
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.4014+8C>G
|
rs748956877
|
0.00001
|
NM_017617.5(NOTCH1):c.4024G>A (p.Gly1342Ser)
|
rs748933222
|
0.00001
|
NM_017617.5(NOTCH1):c.4052C>T (p.Thr1351Ile)
|
rs1357611221
|
0.00001
|
NM_017617.5(NOTCH1):c.4057G>A (p.Gly1353Ser)
|
rs761908188
|
0.00001
|
NM_017617.5(NOTCH1):c.4066C>T (p.Arg1356Cys)
|
rs587778567
|
0.00001
|
NM_017617.5(NOTCH1):c.4074C>T (p.Leu1358=)
|
rs762830852
|
0.00001
|
NM_017617.5(NOTCH1):c.4080C>T (p.Gly1360=)
|
rs745455844
|
0.00001
|
NM_017617.5(NOTCH1):c.4086A>G (p.Thr1362=)
|
rs1394594896
|
0.00001
|
NM_017617.5(NOTCH1):c.408A>G (p.Lys136=)
|
rs769259782
|
0.00001
|
NM_017617.5(NOTCH1):c.4100C>T (p.Pro1367Leu)
|
rs758787267
|
0.00001
|
NM_017617.5(NOTCH1):c.4103G>A (p.Arg1368His)
|
rs779086531
|
0.00001
|
NM_017617.5(NOTCH1):c.4128C>T (p.Gly1376=)
|
rs1292953898
|
0.00001
|
NM_017617.5(NOTCH1):c.4136C>T (p.Thr1379Met)
|
rs764123906
|
0.00001
|
NM_017617.5(NOTCH1):c.4158G>A (p.Pro1386=)
|
rs760205847
|
0.00001
|
NM_017617.5(NOTCH1):c.4180G>A (p.Gly1394Ser)
|
rs1210347209
|
0.00001
|
NM_017617.5(NOTCH1):c.4197C>T (p.Asn1399=)
|
rs989398598
|
0.00001
|
NM_017617.5(NOTCH1):c.4237C>A (p.Arg1413Ser)
|
rs1348438354
|
0.00001
|
NM_017617.5(NOTCH1):c.4263C>T (p.Asn1421=)
|
rs547687521
|
0.00001
|
NM_017617.5(NOTCH1):c.4264G>A (p.Gly1422Arg)
|
rs1255471066
|
0.00001
|
NM_017617.5(NOTCH1):c.4271T>C (p.Leu1424Ser)
|
rs954507677
|
0.00001
|
NM_017617.5(NOTCH1):c.4272G>A (p.Leu1424=)
|
rs1352111936
|
0.00001
|
NM_017617.5(NOTCH1):c.429G>A (p.Pro143=)
|
rs757406877
|
0.00001
|
NM_017617.5(NOTCH1):c.4309G>A (p.Gly1437Arg)
|
rs780500109
|
0.00001
|
NM_017617.5(NOTCH1):c.4336G>A (p.Glu1446Lys)
|
rs1198437870
|
0.00001
|
NM_017617.5(NOTCH1):c.4357G>A (p.Glu1453Lys)
|
rs746144524
|
0.00001
|
NM_017617.5(NOTCH1):c.4374G>A (p.Ala1458=)
|
rs777768691
|
0.00001
|
NM_017617.5(NOTCH1):c.4410C>T (p.His1470=)
|
rs750183248
|
0.00001
|
NM_017617.5(NOTCH1):c.4413G>A (p.Ala1471=)
|
rs756867304
|
0.00001
|
NM_017617.5(NOTCH1):c.4417G>A (p.Gly1473Ser)
|
rs763685504
|
0.00001
|
NM_017617.5(NOTCH1):c.4425C>T (p.Asp1475=)
|
rs371948072
|
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.447C>T (p.Cys149=)
|
rs1042034779
|
0.00001
|
NM_017617.5(NOTCH1):c.452A>G (p.Asn151Ser)
|
rs766362765
|
0.00001
|
NM_017617.5(NOTCH1):c.453C>T (p.Asn151=)
|
rs368733465
|
0.00001
|
NM_017617.5(NOTCH1):c.4564C>G (p.Gln1522Glu)
|
rs537085062
|
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.4587-9C>T
|
rs1390687627
|
0.00001
|
NM_017617.5(NOTCH1):c.4588C>T (p.Pro1530Ser)
|
rs750808945
|
0.00001
|
NM_017617.5(NOTCH1):c.4654G>A (p.Ala1552Thr)
|
rs1438164851
|
0.00001
|
NM_017617.5(NOTCH1):c.4655C>T (p.Ala1552Val)
|
rs748862853
|
0.00001
|
NM_017617.5(NOTCH1):c.4662C>T (p.Cys1554=)
|
rs756662728
|
0.00001
|
NM_017617.5(NOTCH1):c.4663G>A (p.Glu1555Lys)
|
rs746342893
|
0.00001
|
NM_017617.5(NOTCH1):c.4675C>T (p.Leu1559=)
|
rs370713185
|
0.00001
|
NM_017617.5(NOTCH1):c.4686G>A (p.Ala1562=)
|
rs1392196185
|
0.00001
|
NM_017617.5(NOTCH1):c.4709C>T (p.Ala1570Val)
|
rs199860726
|
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.4743G>A (p.Pro1581=)
|
rs781672648
|
0.00001
|
NM_017617.5(NOTCH1):c.4776C>T (p.Phe1592=)
|
rs752861485
|
0.00001
|
NM_017617.5(NOTCH1):c.4810G>A (p.Val1604Met)
|
rs763765573
|
0.00001
|
NM_017617.5(NOTCH1):c.4830A>G (p.Ala1610=)
|
rs1322054624
|
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.4900G>A (p.Ala1634Thr)
|
rs757260114
|
0.00001
|
NM_017617.5(NOTCH1):c.4906G>A (p.Glu1636Lys)
|
rs764006572
|
0.00001
|
NM_017617.5(NOTCH1):c.4919C>T (p.Ala1640Val)
|
rs1183355532
|
0.00001
|
NM_017617.5(NOTCH1):c.4952C>T (p.Ser1651Leu)
|
rs1243453790
|
0.00001
|
NM_017617.5(NOTCH1):c.4959C>G (p.Leu1653=)
|
rs773609261
|
0.00001
|
NM_017617.5(NOTCH1):c.4984C>T (p.Arg1662Trp)
|
rs1456612268
|
0.00001
|
NM_017617.5(NOTCH1):c.499C>T (p.Pro167Ser)
|
rs1439038323
|
0.00001
|
NM_017617.5(NOTCH1):c.5019-7C>T
|
rs778742802
|
0.00001
|
NM_017617.5(NOTCH1):c.5049G>A (p.Arg1683=)
|
rs749951491
|
0.00001
|
NM_017617.5(NOTCH1):c.505A>G (p.Ser169Gly)
|
rs1394975333
|
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.5168-15C>T
|
rs1422578873
|
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.5187C>T (p.Pro1729=)
|
rs1391812990
|
0.00001
|
NM_017617.5(NOTCH1):c.5214C>T (p.Tyr1738=)
|
rs757538884
|
0.00001
|
NM_017617.5(NOTCH1):c.5222C>T (p.Ala1741Val)
|
rs752754662
|
0.00001
|
NM_017617.5(NOTCH1):c.5234T>C (p.Val1745Ala)
|
rs1843012616
|
0.00001
|
NM_017617.5(NOTCH1):c.5247C>T (p.Phe1749=)
|
rs762483384
|
0.00001
|
NM_017617.5(NOTCH1):c.5271C>T (p.Ser1757=)
|
rs747336695
|
0.00001
|
NM_017617.5(NOTCH1):c.5282G>A (p.Arg1761Gln)
|
rs750318685
|
0.00001
|
NM_017617.5(NOTCH1):c.5284C>T (p.Arg1762Trp)
|
rs1356199208
|
0.00001
|
NM_017617.5(NOTCH1):c.5344A>C (p.Lys1782Gln)
|
rs1188095516
|
0.00001
|
NM_017617.5(NOTCH1):c.5350C>T (p.Arg1784Trp)
|
rs1843010487
|
0.00001
|
NM_017617.5(NOTCH1):c.5365G>A (p.Glu1789Lys)
|
rs1198855127
|
0.00001
|
NM_017617.5(NOTCH1):c.5374G>A (p.Val1792Met)
|
rs771399165
|
0.00001
|
NM_017617.5(NOTCH1):c.5384+11G>A
|
rs1340470620
|
0.00001
|
NM_017617.5(NOTCH1):c.5384+6C>T
|
rs747363366
|
0.00001
|
NM_017617.5(NOTCH1):c.5385-13C>T
|
rs1045447812
|
0.00001
|
NM_017617.5(NOTCH1):c.5397C>T (p.Asn1799=)
|
rs761147379
|
0.00001
|
NM_017617.5(NOTCH1):c.5406C>T (p.Asp1802=)
|
rs768810954
|
0.00001
|
NM_017617.5(NOTCH1):c.5413C>T (p.Leu1805Phe)
|
rs775497405
|
0.00001
|
NM_017617.5(NOTCH1):c.541G>A (p.Glu181Lys)
|
rs780209394
|
0.00001
|
NM_017617.5(NOTCH1):c.5452C>G (p.Leu1818Val)
|
rs1064796983
|
0.00001
|
NM_017617.5(NOTCH1):c.5460C>T (p.Thr1820=)
|
rs1176961989
|
0.00001
|
NM_017617.5(NOTCH1):c.5472+10G>A
|
rs1484527670
|
0.00001
|
NM_017617.5(NOTCH1):c.5472+13G>C
|
rs774075034
|
0.00001
|
NM_017617.5(NOTCH1):c.5472+18C>T
|
rs199812169
|
0.00001
|
NM_017617.5(NOTCH1):c.5472+8G>A
|
rs776640246
|
0.00001
|
NM_017617.5(NOTCH1):c.5473-10C>T
|
rs1226558286
|
0.00001
|
NM_017617.5(NOTCH1):c.5473-8C>G
|
rs1353579181
|
0.00001
|
NM_017617.5(NOTCH1):c.5484C>T (p.Pro1828=)
|
rs1381340038
|
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.5505C>T (p.Asp1835=)
|
rs760776152
|
0.00001
|
NM_017617.5(NOTCH1):c.5560C>T (p.Arg1854Cys)
|
rs376689092
|
0.00001
|
NM_017617.5(NOTCH1):c.5568T>C (p.Ser1856=)
|
rs535478432
|
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.5608G>A (p.Asp1870Asn)
|
rs1313068805
|
0.00001
|
NM_017617.5(NOTCH1):c.5619C>T (p.Asp1873=)
|
rs770755811
|
0.00001
|
NM_017617.5(NOTCH1):c.5629C>T (p.Arg1877Cys)
|
rs1446708596
|
0.00001
|
NM_017617.5(NOTCH1):c.5652G>A (p.Pro1884=)
|
rs766279504
|
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.5721G>A (p.Pro1907=)
|
rs1020718980
|
0.00001
|
NM_017617.5(NOTCH1):c.5725G>A (p.Val1909Ile)
|
rs751228412
|
0.00001
|
NM_017617.5(NOTCH1):c.5734G>A (p.Asp1912Asn)
|
rs375978224
|
0.00001
|
NM_017617.5(NOTCH1):c.5784C>T (p.Gly1928=)
|
rs773571672
|
0.00001
|
NM_017617.5(NOTCH1):c.5790C>T (p.Thr1930=)
|
rs772372556
|
0.00001
|
NM_017617.5(NOTCH1):c.5793C>A (p.Ala1931=)
|
rs569844183
|
0.00001
|
NM_017617.5(NOTCH1):c.5804C>T (p.Ala1935Val)
|
rs374787627
|
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.5836C>T (p.Arg1946Cys)
|
rs1440167765
|
0.00001
|
NM_017617.5(NOTCH1):c.5870A>C (p.Gln1957Pro)
|
rs201174576
|
0.00001
|
NM_017617.5(NOTCH1):c.587A>G (p.His196Arg)
|
rs1157720260
|
0.00001
|
NM_017617.5(NOTCH1):c.612C>T (p.Cys204=)
|
rs1208829487
|
0.00001
|
NM_017617.5(NOTCH1):c.613G>A (p.Val205Ile)
|
rs979299004
|
0.00001
|
NM_017617.5(NOTCH1):c.62-9C>T
|
rs368106834
|
0.00001
|
NM_017617.5(NOTCH1):c.6204C>T (p.Ala2068=)
|
rs767118276
|
0.00001
|
NM_017617.5(NOTCH1):c.6213G>A (p.Glu2071=)
|
rs761295801
|
0.00001
|
NM_017617.5(NOTCH1):c.6223G>A (p.Glu2075Lys)
|
rs549258808
|
0.00001
|
NM_017617.5(NOTCH1):c.6227C>T (p.Thr2076Ile)
|
rs1022510242
|
0.00001
|
NM_017617.5(NOTCH1):c.622G>A (p.Ala208Thr)
|
rs745817995
|
0.00001
|
NM_017617.5(NOTCH1):c.6237G>A (p.Val2079=)
|
rs1246059704
|
0.00001
|
NM_017617.5(NOTCH1):c.6257A>G (p.Asn2086Ser)
|
rs201058656
|
0.00001
|
NM_017617.5(NOTCH1):c.6259C>T (p.Arg2087Trp)
|
rs373806373
|
0.00001
|
NM_017617.5(NOTCH1):c.6260G>A (p.Arg2087Gln)
|
rs768543030
|
0.00001
|
NM_017617.5(NOTCH1):c.6265A>G (p.Ile2089Val)
|
rs749262096
|
0.00001
|
NM_017617.5(NOTCH1):c.6293G>A (p.Arg2098His)
|
rs759998676
|
0.00001
|
NM_017617.5(NOTCH1):c.6295G>A (p.Asp2099Asn)
|
rs766745955
|
0.00001
|
NM_017617.5(NOTCH1):c.632C>G (p.Thr211Ser)
|
rs1401319182
|
0.00001
|
NM_017617.5(NOTCH1):c.6343G>A (p.Glu2115Lys)
|
rs777219891
|
0.00001
|
NM_017617.5(NOTCH1):c.6350A>C (p.Asn2117Thr)
|
rs765820020
|
0.00001
|
NM_017617.5(NOTCH1):c.6358C>T (p.Arg2120Cys)
|
rs375969725
|
0.00001
|
NM_017617.5(NOTCH1):c.6392G>A (p.Gly2131Asp)
|
rs1842933513
|
0.00001
|
NM_017617.5(NOTCH1):c.6395C>T (p.Thr2132Met)
|
rs777501680
|
0.00001
|
NM_017617.5(NOTCH1):c.6401C>T (p.Thr2134Ile)
|
rs1249825304
|
0.00001
|
NM_017617.5(NOTCH1):c.6408G>A (p.Ser2136=)
|
rs933773128
|
0.00001
|
NM_017617.5(NOTCH1):c.6413C>T (p.Pro2138Leu)
|
rs756571156
|
0.00001
|
NM_017617.5(NOTCH1):c.6414G>A (p.Pro2138=)
|
rs750732295
|
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.6456C>T (p.Gly2152=)
|
rs368287903
|
0.00001
|
NM_017617.5(NOTCH1):c.6475C>T (p.Arg2159Cys)
|
rs371742334
|
0.00001
|
NM_017617.5(NOTCH1):c.6476G>A (p.Arg2159His)
|
rs1060502233
|
0.00001
|
NM_017617.5(NOTCH1):c.649C>T (p.Arg217Trp)
|
rs757003332
|
0.00001
|
NM_017617.5(NOTCH1):c.6503G>A (p.Cys2168Tyr)
|
rs1055326153
|
0.00001
|
NM_017617.5(NOTCH1):c.6536G>C (p.Arg2179Pro)
|
rs587778571
|
0.00001
|
NM_017617.5(NOTCH1):c.6542A>G (p.Lys2181Arg)
|
rs746372139
|
0.00001
|
NM_017617.5(NOTCH1):c.6564C>A (p.Gly2188=)
|
rs747353119
|
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.6595C>T (p.Pro2199Ser)
|
rs988164569
|
0.00001
|
NM_017617.5(NOTCH1):c.6637G>A (p.Val2213Met)
|
rs376241938
|
0.00001
|
NM_017617.5(NOTCH1):c.6645G>A (p.Ser2215=)
|
rs745339419
|
0.00001
|
NM_017617.5(NOTCH1):c.6680C>T (p.Pro2227Leu)
|
rs751456570
|
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.6748G>T (p.Ala2250Ser)
|
rs1436539393
|
0.00001
|
NM_017617.5(NOTCH1):c.674C>G (p.Ser225Trp)
|
rs553542677
|
0.00001
|
NM_017617.5(NOTCH1):c.6756G>A (p.Lys2252=)
|
rs1842926814
|
0.00001
|
NM_017617.5(NOTCH1):c.6758C>T (p.Pro2253Leu)
|
rs1204397173
|
0.00001
|
NM_017617.5(NOTCH1):c.6759C>T (p.Pro2253=)
|
rs770738954
|
0.00001
|
NM_017617.5(NOTCH1):c.675G>A (p.Ser225=)
|
rs1334701310
|
0.00001
|
NM_017617.5(NOTCH1):c.6768G>A (p.Ala2256=)
|
rs575575412
|
0.00001
|
NM_017617.5(NOTCH1):c.6769G>A (p.Ala2257Thr)
|
rs587778572
|
0.00001
|
NM_017617.5(NOTCH1):c.6781G>T (p.Gly2261Cys)
|
rs768817065
|
0.00001
|
NM_017617.5(NOTCH1):c.6784G>A (p.Gly2262Ser)
|
rs780071276
|
0.00001
|
NM_017617.5(NOTCH1):c.6787C>T (p.Arg2263Trp)
|
rs770022692
|
0.00001
|
NM_017617.5(NOTCH1):c.6789G>C (p.Arg2263=)
|
rs1367699274
|
0.00001
|
NM_017617.5(NOTCH1):c.678C>G (p.Pro226=)
|
rs950648628
|
0.00001
|
NM_017617.5(NOTCH1):c.6812C>T (p.Pro2271Leu)
|
rs1223321022
|
0.00001
|
NM_017617.5(NOTCH1):c.6868A>G (p.Ser2290Gly)
|
rs1842924133
|
0.00001
|
NM_017617.5(NOTCH1):c.6871G>A (p.Gly2291Arg)
|
rs367721906
|
0.00001
|
NM_017617.5(NOTCH1):c.687C>T (p.Asn229=)
|
rs535217359
|
0.00001
|
NM_017617.5(NOTCH1):c.6889A>G (p.Thr2297Ala)
|
rs748988550
|
0.00001
|
NM_017617.5(NOTCH1):c.6895G>A (p.Gly2299Ser)
|
rs1020747496
|
0.00001
|
NM_017617.5(NOTCH1):c.6897C>T (p.Gly2299=)
|
rs201643432
|
0.00001
|
NM_017617.5(NOTCH1):c.68G>C (p.Arg23Pro)
|
rs869025260
|
0.00001
|
NM_017617.5(NOTCH1):c.6910T>G (p.Leu2304Val)
|
rs749993527
|
0.00001
|
NM_017617.5(NOTCH1):c.6915T>C (p.Asn2305=)
|
rs1223420495
|
0.00001
|
NM_017617.5(NOTCH1):c.6921A>G (p.Gln2307=)
|
rs1361904973
|
0.00001
|
NM_017617.5(NOTCH1):c.6937C>T (p.Arg2313Trp)
|
rs374453977
|
0.00001
|
NM_017617.5(NOTCH1):c.6949G>A (p.Gly2317Ser)
|
rs747022065
|
0.00001
|
NM_017617.5(NOTCH1):c.6968A>G (p.Tyr2323Cys)
|
rs779811889
|
0.00001
|
NM_017617.5(NOTCH1):c.6969C>T (p.Tyr2323=)
|
rs755844275
|
0.00001
|
NM_017617.5(NOTCH1):c.6976C>T (p.Leu2326=)
|
rs756811995
|
0.00001
|
NM_017617.5(NOTCH1):c.7033G>A (p.Gly2345Ser)
|
rs1325758824
|
0.00001
|
NM_017617.5(NOTCH1):c.7046C>T (p.Pro2349Leu)
|
rs540165156
|
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.7104G>A (p.Leu2368=)
|
rs779525805
|
0.00001
|
NM_017617.5(NOTCH1):c.7114C>T (p.Arg2372Trp)
|
rs754234580
|
0.00001
|
NM_017617.5(NOTCH1):c.7128G>T (p.Gln2376His)
|
rs369935287
|
0.00001
|
NM_017617.5(NOTCH1):c.712G>A (p.Asp238Asn)
|
rs550554578
|
0.00001
|
NM_017617.5(NOTCH1):c.7134C>T (p.His2378=)
|
rs775424890
|
0.00001
|
NM_017617.5(NOTCH1):c.7138G>A (p.Val2380Met)
|
rs769693988
|
0.00001
|
NM_017617.5(NOTCH1):c.714C>T (p.Asp238=)
|
rs532058137
|
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.7161A>T (p.Pro2387=)
|
rs1413339098
|
0.00001
|
NM_017617.5(NOTCH1):c.7172A>T (p.Gln2391Leu)
|
rs1169052272
|
0.00001
|
NM_017617.5(NOTCH1):c.7188C>G (p.Asn2396Lys)
|
rs1842917968
|
0.00001
|
NM_017617.5(NOTCH1):c.7189C>T (p.Leu2397=)
|
rs374789141
|
0.00001
|
NM_017617.5(NOTCH1):c.7238C>T (p.Pro2413Leu)
|
rs1842916834
|
0.00001
|
NM_017617.5(NOTCH1):c.7273G>A (p.Ala2425Thr)
|
rs1364332299
|
0.00001
|
NM_017617.5(NOTCH1):c.7291C>T (p.Arg2431Trp)
|
rs758410389
|
0.00001
|
NM_017617.5(NOTCH1):c.7315A>C (p.Ser2439Arg)
|
rs942055234
|
0.00001
|
NM_017617.5(NOTCH1):c.7417G>A (p.Val2473Ile)
|
rs1358523874
|
0.00001
|
NM_017617.5(NOTCH1):c.7430C>T (p.Thr2477Ile)
|
rs1373474592
|
0.00001
|
NM_017617.5(NOTCH1):c.7472C>A (p.Ser2491Tyr)
|
rs757165853
|
0.00001
|
NM_017617.5(NOTCH1):c.751G>A (p.Gly251Ser)
|
rs755667439
|
0.00001
|
NM_017617.5(NOTCH1):c.752G>A (p.Gly251Asp)
|
rs749943647
|
0.00001
|
NM_017617.5(NOTCH1):c.7539C>T (p.Ser2513=)
|
rs758931699
|
0.00001
|
NM_017617.5(NOTCH1):c.7545G>T (p.Glu2515Asp)
|
rs1365732147
|
0.00001
|
NM_017617.5(NOTCH1):c.7554C>T (p.Asp2518=)
|
rs771410115
|
0.00001
|
NM_017617.5(NOTCH1):c.7568C>T (p.Ser2523Leu)
|
rs1554826328
|
0.00001
|
NM_017617.5(NOTCH1):c.7584C>T (p.Asn2528=)
|
rs778937268
|
0.00001
|
NM_017617.5(NOTCH1):c.7590C>T (p.Ser2530=)
|
rs371067732
|
0.00001
|
NM_017617.5(NOTCH1):c.7631A>G (p.Gln2544Arg)
|
rs764749582
|
0.00001
|
NM_017617.5(NOTCH1):c.7642G>A (p.Ala2548Thr)
|
rs761156723
|
0.00001
|
NM_017617.5(NOTCH1):c.764A>G (p.Glu255Gly)
|
rs1186718194
|
0.00001
|
NM_017617.5(NOTCH1):c.7667A>G (p.Ter2556=)
|
rs190691338
|
0.00001
|
NM_017617.5(NOTCH1):c.79C>A (p.Pro27Thr)
|
rs769784635
|
0.00001
|
NM_017617.5(NOTCH1):c.822C>T (p.Asp274=)
|
rs775275739
|
0.00001
|
NM_017617.5(NOTCH1):c.826G>A (p.Val276Met)
|
rs369721921
|
0.00001
|
NM_017617.5(NOTCH1):c.865+19G>A
|
rs775120395
|
0.00001
|
NM_017617.5(NOTCH1):c.865+5G>A
|
rs1307085130
|
0.00001
|
NM_017617.5(NOTCH1):c.866-3C>T
|
rs950602055
|
0.00001
|
NM_017617.5(NOTCH1):c.866-7C>T
|
rs368001435
|
0.00001
|
NM_017617.5(NOTCH1):c.949G>A (p.Gly317Ser)
|
rs749696049
|
0.00001
|
NM_017617.5(NOTCH1):c.94C>T (p.Leu32=)
|
rs367858719
|
0.00001
|
NC_000009.11:g.(?_139390513)_(139440248_?)dup
|
|
|
NC_000009.11:g.(?_139390523)_(139438574_?)dup
|
|
|
NC_000009.11:g.(?_139404165)_(139405277_?)del
|
|
|
NC_000009.11:g.(?_139438456)_(139440238_?)dup
|
|
|
NC_000009.12:g.(?_136496051)_(136523999_?)del
|
|
|
NC_000009.12:g.(?_136496061)_(136523989_?)del
|
|
|
NC_000009.12:g.(?_136496071)_(136523980_?)del
|
|
|
NM_017617.5(NOTCH1):c.1005C>A (p.Asn335Lys)
|
|
|
NM_017617.5(NOTCH1):c.1014C>T (p.Asp338=)
|
|
|
NM_017617.5(NOTCH1):c.1017T>G (p.Cys339Trp)
|
|
|
NM_017617.5(NOTCH1):c.1017_1018del (p.Ala340fs)
|
rs1843317673
|
|
NM_017617.5(NOTCH1):c.1018G>A (p.Ala340Thr)
|
|
|
NM_017617.5(NOTCH1):c.1027G>A (p.Ala343Thr)
|
rs1843317533
|
|
NM_017617.5(NOTCH1):c.103G>A (p.Gly35Arg)
|
rs1843774247
|
|
NM_017617.5(NOTCH1):c.1045A>C (p.Thr349Pro)
|
rs200520088
|
|
NM_017617.5(NOTCH1):c.1047C>T (p.Thr349=)
|
|
|
NM_017617.5(NOTCH1):c.1058G>A (p.Arg353His)
|
|
|
NM_017617.5(NOTCH1):c.1059T>C (p.Arg353=)
|
|
|
NM_017617.5(NOTCH1):c.105G>C (p.Gly35=)
|
|
|
NM_017617.5(NOTCH1):c.1062G>C (p.Val354=)
|
|
|
NM_017617.5(NOTCH1):c.1067C>T (p.Ser356Phe)
|
rs1843316270
|
|
NM_017617.5(NOTCH1):c.1068C>T (p.Ser356=)
|
|
|
NM_017617.5(NOTCH1):c.1070T>C (p.Phe357Ser)
|
rs1843316172
|
|
NM_017617.5(NOTCH1):c.1078G>A (p.Glu360Lys)
|
|
|
NM_017617.5(NOTCH1):c.1081T>C (p.Cys361Arg)
|
rs1843315932
|
|
NM_017617.5(NOTCH1):c.1093C>T (p.Arg365Cys)
|
rs1064795070
|
|
NM_017617.5(NOTCH1):c.1099+1G>T
|
|
|
NM_017617.5(NOTCH1):c.1100-16G>A
|
rs146815871
|
|
NM_017617.5(NOTCH1):c.1100-17C>T
|
rs373481386
|
|
NM_017617.5(NOTCH1):c.1100-4C>T
|
rs1297218175
|
|
NM_017617.5(NOTCH1):c.1105C>T (p.Leu369=)
|
|
|
NM_017617.5(NOTCH1):c.1109G>A (p.Cys370Tyr)
|
rs1564199987
|
|
NM_017617.5(NOTCH1):c.1110C>T (p.Cys370=)
|
|
|
NM_017617.5(NOTCH1):c.1116_1118delinsAC (p.Asn373fs)
|
rs2133369937
|
|
NM_017617.5(NOTCH1):c.1119C>T (p.Asn373=)
|
|
|
NM_017617.5(NOTCH1):c.1125A>C (p.Ala375=)
|
rs371954544
|
|
NM_017617.5(NOTCH1):c.1196C>A (p.Thr399Asn)
|
|
|
NM_017617.5(NOTCH1):c.1218C>G (p.Gly406=)
|
|
|
NM_017617.5(NOTCH1):c.1220C>G (p.Pro407Arg)
|
rs754529382
|
|
NM_017617.5(NOTCH1):c.1239G>A (p.Val413=)
|
|
|
NM_017617.5(NOTCH1):c.1242T>G (p.Asp414Glu)
|
rs1843307597
|
|
NM_017617.5(NOTCH1):c.1251G>C (p.Ser417=)
|
|
|
NM_017617.5(NOTCH1):c.1255+10dup
|
|
|
NM_017617.5(NOTCH1):c.1255+13dup
|
|
|
NM_017617.5(NOTCH1):c.1255+14C>T
|
|
|
NM_017617.5(NOTCH1):c.1255+19G>A
|
|
|
NM_017617.5(NOTCH1):c.1255+19G>T
|
|
|
NM_017617.5(NOTCH1):c.1255+20G>T
|
|
|
NM_017617.5(NOTCH1):c.1256-10C>T
|
|
|
NM_017617.5(NOTCH1):c.1256-13G>T
|
|
|
NM_017617.5(NOTCH1):c.1256-15G>T
|
|
|
NM_017617.5(NOTCH1):c.1256-16C>T
|
|
|
NM_017617.5(NOTCH1):c.1256-8C>G
|
rs1052776009
|
|
NM_017617.5(NOTCH1):c.1256-9C>G
|
rs1401233481
|
|
NM_017617.5(NOTCH1):c.1256-9C>T
|
|
|
NM_017617.5(NOTCH1):c.1266C>A (p.Pro422=)
|
rs762533002
|
|
NM_017617.5(NOTCH1):c.1277C>G (p.Ala426Gly)
|
rs528033027
|
|
NM_017617.5(NOTCH1):c.1277C>T (p.Ala426Val)
|
|
|
NM_017617.5(NOTCH1):c.1284G>A (p.Lys428=)
|
rs1466608110
|
|
NM_017617.5(NOTCH1):c.1285T>C (p.Cys429Arg)
|
rs587777736
|
|
NM_017617.5(NOTCH1):c.1295C>G (p.Thr432Arg)
|
rs200562991
|
|
NM_017617.5(NOTCH1):c.1342C>T (p.Arg448Ter)
|
rs869025494
|
|
NM_017617.5(NOTCH1):c.1343G>A (p.Arg448Gln)
|
rs864622056
|
|
NM_017617.5(NOTCH1):c.1345T>C (p.Cys449Arg)
|
rs864622057
|
|
NM_017617.5(NOTCH1):c.1347C>T (p.Cys449=)
|
|
|
NM_017617.5(NOTCH1):c.1350G>A (p.Glu450=)
|
|
|
NM_017617.5(NOTCH1):c.1353C>T (p.Ile451=)
|
|
|
NM_017617.5(NOTCH1):c.1363G>A (p.Glu455Lys)
|
|
|
NM_017617.5(NOTCH1):c.1367G>A (p.Cys456Tyr)
|
rs864622058
|
|
NM_017617.5(NOTCH1):c.1369G>T (p.Val457Phe)
|
|
|
NM_017617.5(NOTCH1):c.1371C>T (p.Val457=)
|
rs1463940681
|
|
NM_017617.5(NOTCH1):c.1373C>T (p.Ser458Leu)
|
|
|
NM_017617.5(NOTCH1):c.1374G>A (p.Ser458=)
|
rs886039016
|
|
NM_017617.5(NOTCH1):c.1379C>T (p.Pro460Leu)
|
|
|
NM_017617.5(NOTCH1):c.1385A>G (p.Gln462Arg)
|
|
|
NM_017617.5(NOTCH1):c.1386G>A (p.Gln462=)
|
rs2133368484
|
|
NM_017617.5(NOTCH1):c.1393G>A (p.Ala465Thr)
|
rs1057523819
|
|
NM_017617.5(NOTCH1):c.1396del (p.Thr466fs)
|
rs1564199476
|
|
NM_017617.5(NOTCH1):c.140+11C>A
|
|
|
NM_017617.5(NOTCH1):c.140+14C>T
|
|
|
NM_017617.5(NOTCH1):c.140+15T>G
|
|
|
NM_017617.5(NOTCH1):c.140+20del
|
rs751297042
|
|
NM_017617.5(NOTCH1):c.140+9C>G
|
|
|
NM_017617.5(NOTCH1):c.142T>A (p.Cys48Ser)
|
|
|
NM_017617.5(NOTCH1):c.1440C>A (p.Pro480=)
|
rs61751555
|
|
NM_017617.5(NOTCH1):c.1441+11C>A
|
rs376506127
|
|
NM_017617.5(NOTCH1):c.1441+11C>T
|
rs376506127
|
|
NM_017617.5(NOTCH1):c.1441+11del
|
|
|
NM_017617.5(NOTCH1):c.1441G>C (p.Gly481Arg)
|
rs1448146225
|
|
NM_017617.5(NOTCH1):c.1442-12C>T
|
rs1241878638
|
|
NM_017617.5(NOTCH1):c.1442-17_1442-16del
|
|
|
NM_017617.5(NOTCH1):c.1442-3C>T
|
rs1589067790
|
|
NM_017617.5(NOTCH1):c.1442G>T (p.Gly481Val)
|
rs2133367544
|
|
NM_017617.5(NOTCH1):c.1467C>G (p.Val489=)
|
|
|
NM_017617.5(NOTCH1):c.1474G>A (p.Asp492Asn)
|
|
|
NM_017617.5(NOTCH1):c.1477G>A (p.Glu493Lys)
|
rs1554729862
|
|
NM_017617.5(NOTCH1):c.1477G>C (p.Glu493Gln)
|
|
|
NM_017617.5(NOTCH1):c.1483G>A (p.Ala495Thr)
|
|
|
NM_017617.5(NOTCH1):c.1483_1484delinsAA (p.Ala495Asn)
|
|
|
NM_017617.5(NOTCH1):c.1487G>C (p.Ser496Thr)
|
rs2133367463
|
|
NM_017617.5(NOTCH1):c.1496G>T (p.Cys499Phe)
|
rs1843292131
|
|
NM_017617.5(NOTCH1):c.1514G>A (p.Cys505Tyr)
|
rs1060502240
|
|
NM_017617.5(NOTCH1):c.1522A>G (p.Lys508Glu)
|
|
|
NM_017617.5(NOTCH1):c.1527C>G (p.Ile509Met)
|
|
|
NM_017617.5(NOTCH1):c.1527C>T (p.Ile509=)
|
rs2133367383
|
|
NM_017617.5(NOTCH1):c.1528A>G (p.Asn510Asp)
|
|
|
NM_017617.5(NOTCH1):c.1530T>C (p.Asn510=)
|
|
|
NM_017617.5(NOTCH1):c.1537C>T (p.Gln513Ter)
|
|
|
NM_017617.5(NOTCH1):c.1539G>C (p.Gln513His)
|
rs747069934
|
|
NM_017617.5(NOTCH1):c.1542C>A (p.Cys514Ter)
|
rs779058908
|
|
NM_017617.5(NOTCH1):c.1543G>A (p.Glu515Lys)
|
rs749085650
|
|
NM_017617.5(NOTCH1):c.1551C>A (p.Pro517=)
|
|
|
NM_017617.5(NOTCH1):c.1555+11C>T
|
|
|
NM_017617.5(NOTCH1):c.1555+13C>G
|
|
|
NM_017617.5(NOTCH1):c.1555+17C>T
|
rs760877301
|
|
NM_017617.5(NOTCH1):c.1555+5G>A
|
|
|
NM_017617.5(NOTCH1):c.1555+6G>A
|
|
|
NM_017617.5(NOTCH1):c.1556-17C>A
|
|
|
NM_017617.5(NOTCH1):c.1556-19C>T
|
rs970722201
|
|
NM_017617.5(NOTCH1):c.1556-20C>G
|
rs1268079353
|
|
NM_017617.5(NOTCH1):c.1556-23TCCCC[2]
|
|
|
NM_017617.5(NOTCH1):c.1556-23TCCCC[4]
|
rs747100045
|
|
NM_017617.5(NOTCH1):c.1556-23_1556-20del
|
|
|
NM_017617.5(NOTCH1):c.1556-4C>T
|
rs2133365542
|
|
NM_017617.5(NOTCH1):c.1556-8G>T
|
rs776434236
|
|
NM_017617.5(NOTCH1):c.1567C>T (p.His523Tyr)
|
rs572103199
|
|
NM_017617.5(NOTCH1):c.1577A>G (p.Gln526Arg)
|
|
|
NM_017617.5(NOTCH1):c.1591G>A (p.Glu531Lys)
|
|
|
NM_017617.5(NOTCH1):c.1599C>A (p.Ala533=)
|
rs1304388033
|
|
NM_017617.5(NOTCH1):c.1601G>A (p.Ser534Asn)
|
|
|
NM_017617.5(NOTCH1):c.1618G>C (p.Gly540Arg)
|
|
|
NM_017617.5(NOTCH1):c.1627_1669+11del
|
|
|
NM_017617.5(NOTCH1):c.1648T>C (p.Tyr550His)
|
|
|
NM_017617.5(NOTCH1):c.1649dup (p.Tyr550Ter)
|
rs864622059
|
|
NM_017617.5(NOTCH1):c.164C>T (p.Pro55Leu)
|
|
|
NM_017617.5(NOTCH1):c.1652C>T (p.Thr551Ile)
|
|
|
NM_017617.5(NOTCH1):c.1661G>A (p.Cys554Tyr)
|
rs2133365061
|
|
NM_017617.5(NOTCH1):c.1669+3G>A
|
|
|
NM_017617.5(NOTCH1):c.1669+4C>A
|
rs1227337588
|
|
NM_017617.5(NOTCH1):c.1669+4C>T
|
|
|
NM_017617.5(NOTCH1):c.1669+9_1669+10inv
|
|
|
NM_017617.5(NOTCH1):c.1670-10_1670-9inv
|
|
|
NM_017617.5(NOTCH1):c.1670-11C>T
|
|
|
NM_017617.5(NOTCH1):c.1670-7G>A
|
|
|
NM_017617.5(NOTCH1):c.1679G>A (p.Gly560Glu)
|
|
|
NM_017617.5(NOTCH1):c.167G>A (p.Arg56Gln)
|
|
|
NM_017617.5(NOTCH1):c.1684C>T (p.His562Tyr)
|
|
|
NM_017617.5(NOTCH1):c.168A>G (p.Arg56=)
|
|
|
NM_017617.5(NOTCH1):c.1698C>G (p.Asp566Glu)
|
|
|
NM_017617.5(NOTCH1):c.1701C>A (p.Ile567=)
|
rs773932034
|
|
NM_017617.5(NOTCH1):c.1701C>G (p.Ile567Met)
|
rs773932034
|
|
NM_017617.5(NOTCH1):c.1702G>A (p.Asp568Asn)
|
rs562413261
|
|
NM_017617.5(NOTCH1):c.170G>A (p.Cys57Tyr)
|
|
|
NM_017617.5(NOTCH1):c.1711G>A (p.Asp571Asn)
|
rs373125283
|
|
NM_017617.5(NOTCH1):c.1713C>T (p.Asp571=)
|
|
|
NM_017617.5(NOTCH1):c.1715C>A (p.Pro572His)
|
|
|
NM_017617.5(NOTCH1):c.1719C>T (p.Asp573=)
|
|
|
NM_017617.5(NOTCH1):c.1740C>T (p.Cys580=)
|
|
|
NM_017617.5(NOTCH1):c.1741A>G (p.Lys581Glu)
|
rs778992111
|
|
NM_017617.5(NOTCH1):c.1746C>T (p.Asp582=)
|
|
|
NM_017617.5(NOTCH1):c.1752C>T (p.Val584=)
|
rs902251832
|
|
NM_017617.5(NOTCH1):c.1753G>A (p.Ala585Thr)
|
rs775217381
|
|
NM_017617.5(NOTCH1):c.1755C>T (p.Ala585=)
|
|
|
NM_017617.5(NOTCH1):c.1756A>C (p.Thr586Pro)
|
rs764854903
|
|
NM_017617.5(NOTCH1):c.1756A>G (p.Thr586Ala)
|
rs764854903
|
|
NM_017617.5(NOTCH1):c.1757C>T (p.Thr586Ile)
|
rs1843254040
|
|
NM_017617.5(NOTCH1):c.1760T>C (p.Phe587Ser)
|
rs771440130
|
|
NM_017617.5(NOTCH1):c.1762A>C (p.Thr588Pro)
|
rs747384159
|
|
NM_017617.5(NOTCH1):c.1768C>T (p.Leu590Phe)
|
|
|
NM_017617.5(NOTCH1):c.1769T>G (p.Leu590Arg)
|
|
|
NM_017617.5(NOTCH1):c.1770C>G (p.Leu590=)
|
rs949220276
|
|
NM_017617.5(NOTCH1):c.1784_1787del (p.Tyr595fs)
|
rs2133363840
|
|
NM_017617.5(NOTCH1):c.178C>A (p.Pro60Thr)
|
|
|
NM_017617.5(NOTCH1):c.1792C>T (p.His598Tyr)
|
rs1589066307
|
|
NM_017617.5(NOTCH1):c.1794C>T (p.His598=)
|
rs1261287469
|
|
NM_017617.5(NOTCH1):c.1797C>A (p.His599Gln)
|
|
|
NM_017617.5(NOTCH1):c.1799G>T (p.Cys600Phe)
|
rs1843252800
|
|
NM_017617.5(NOTCH1):c.1800_1801dup (p.Glu601fs)
|
rs1843252720
|
|
NM_017617.5(NOTCH1):c.1809C>T (p.Asn603=)
|
|
|
NM_017617.5(NOTCH1):c.1815C>G (p.Asn605Lys)
|
rs781029850
|
|
NM_017617.5(NOTCH1):c.1821C>T (p.Cys607=)
|
|
|
NM_017617.5(NOTCH1):c.1830G>A (p.Gln610=)
|
rs2133363599
|
|
NM_017617.5(NOTCH1):c.1848C>A (p.Gly616=)
|
|
|
NM_017617.5(NOTCH1):c.1851C>T (p.Thr617=)
|
rs761199261
|
|
NM_017617.5(NOTCH1):c.1854C>T (p.Cys618=)
|
|
|
NM_017617.5(NOTCH1):c.1857G>A (p.Gln619=)
|
|
|
NM_017617.5(NOTCH1):c.1861C>G (p.Arg621Gly)
|
rs774622686
|
|
NM_017617.5(NOTCH1):c.186G>A (p.Pro62=)
|
rs374320445
|
|
NM_017617.5(NOTCH1):c.1871C>G (p.Ala624Gly)
|
|
|
NM_017617.5(NOTCH1):c.1888C>G (p.Leu630Val)
|
rs2133363294
|
|
NM_017617.5(NOTCH1):c.1892A>G (p.Lys631Arg)
|
|
|
NM_017617.5(NOTCH1):c.1894G>A (p.Gly632Arg)
|
rs2133363267
|
|
NM_017617.5(NOTCH1):c.1896_1897delinsTG (p.Thr633Ala)
|
rs1843250416
|
|
NM_017617.5(NOTCH1):c.1899C>G (p.Thr633=)
|
|
|
NM_017617.5(NOTCH1):c.1903+14C>G
|
|
|
NM_017617.5(NOTCH1):c.1903+15G>A
|
|
|
NM_017617.5(NOTCH1):c.1903+6C>G
|
|
|
NM_017617.5(NOTCH1):c.1903+7G>A
|
rs760116150
|
|
NM_017617.5(NOTCH1):c.1903+7G>T
|
rs760116150
|
|
NM_017617.5(NOTCH1):c.1904-15G>A
|
|
|
NM_017617.5(NOTCH1):c.1904-16C>A
|
|
|
NM_017617.5(NOTCH1):c.1904-16C>T
|
rs775848413
|
|
NM_017617.5(NOTCH1):c.1904-17A>C
|
|
|
NM_017617.5(NOTCH1):c.1904-20G>A
|
|
|
NM_017617.5(NOTCH1):c.1904-20G>C
|
|
|
NM_017617.5(NOTCH1):c.1904-3C>T
|
rs748118679
|
|
NM_017617.5(NOTCH1):c.1904-9C>T
|
rs2133362915
|
|
NM_017617.5(NOTCH1):c.1906C>T (p.Pro636Ser)
|
|
|
NM_017617.5(NOTCH1):c.1915G>A (p.Glu639Lys)
|
|
|
NM_017617.5(NOTCH1):c.1923C>T (p.Asn641=)
|
|
|
NM_017617.5(NOTCH1):c.1935_1936del (p.Ala646fs)
|
rs1554729443
|
|
NM_017617.5(NOTCH1):c.1936G>A (p.Ala646Thr)
|
|
|
NM_017617.5(NOTCH1):c.1945C>T (p.Pro649Ser)
|
|
|
NM_017617.5(NOTCH1):c.1959C>A (p.Gly653=)
|
rs776402525
|
|
NM_017617.5(NOTCH1):c.1961C>T (p.Thr654Ile)
|
rs765651994
|
|
NM_017617.5(NOTCH1):c.1966C>T (p.Leu656=)
|
rs776930100
|
|
NM_017617.5(NOTCH1):c.1971C>T (p.Asp657=)
|
rs1843246881
|
|
NM_017617.5(NOTCH1):c.1977C>T (p.Ile659=)
|
rs766577980
|
|
NM_017617.5(NOTCH1):c.1978G>A (p.Asp660Asn)
|
rs368996332
|
|
NM_017617.5(NOTCH1):c.1988A>G (p.Glu663Gly)
|
|
|
NM_017617.5(NOTCH1):c.199C>T (p.Pro67Ser)
|
|
|
NM_017617.5(NOTCH1):c.2004G>A (p.Pro668=)
|
|
|
NM_017617.5(NOTCH1):c.200C>T (p.Pro67Leu)
|
|
|
NM_017617.5(NOTCH1):c.2012C>A (p.Thr671Lys)
|
rs2133362310
|
|
NM_017617.5(NOTCH1):c.2012C>T (p.Thr671Ile)
|
|
|
NM_017617.5(NOTCH1):c.2014+10C>A
|
rs1589065951
|
|
NM_017617.5(NOTCH1):c.2014+10C>T
|
|
|
NM_017617.5(NOTCH1):c.2014+11C>T
|
rs1348123089
|
|
NM_017617.5(NOTCH1):c.2014+17G>A
|
|
|
NM_017617.5(NOTCH1):c.2014+17G>T
|
|
|
NM_017617.5(NOTCH1):c.2014+8G>A
|
|
|
NM_017617.5(NOTCH1):c.2015-10C>T
|
|
|
NM_017617.5(NOTCH1):c.2015-11C>T
|
|
|
NM_017617.5(NOTCH1):c.2015-13G>C
|
rs772867940
|
|
NM_017617.5(NOTCH1):c.2015-2A>G
|
|
|
NM_017617.5(NOTCH1):c.2015-2del
|
rs2133361331
|
|
NM_017617.5(NOTCH1):c.201C>A (p.Pro67=)
|
rs764636339
|
|
NM_017617.5(NOTCH1):c.2026A>T (p.Asn676Tyr)
|
|
|
NM_017617.5(NOTCH1):c.2033A>G (p.Asn678Ser)
|
|
|
NM_017617.5(NOTCH1):c.2039A>G (p.Asp680Gly)
|
rs2133361218
|
|
NM_017617.5(NOTCH1):c.2041G>A (p.Glu681Lys)
|
|
|
NM_017617.5(NOTCH1):c.2046T>C (p.Cys682=)
|
|
|
NM_017617.5(NOTCH1):c.2051G>C (p.Gly684Ala)
|
|
|
NM_017617.5(NOTCH1):c.2053A>T (p.Asn685Tyr)
|
|
|
NM_017617.5(NOTCH1):c.2054A>G (p.Asn685Ser)
|
|
|
NM_017617.5(NOTCH1):c.2056C>T (p.Pro686Ser)
|
|
|
NM_017617.5(NOTCH1):c.2066A>G (p.Asn689Ser)
|
|
|
NM_017617.5(NOTCH1):c.2103C>A (p.Thr701=)
|
|
|
NM_017617.5(NOTCH1):c.2103C>G (p.Thr701=)
|
|
|
NM_017617.5(NOTCH1):c.2118G>A (p.Glu706=)
|
|
|
NM_017617.5(NOTCH1):c.2125C>A (p.His709Asn)
|
rs2133360792
|
|
NM_017617.5(NOTCH1):c.2148G>C (p.Glu716Asp)
|
rs376468003
|
|
NM_017617.5(NOTCH1):c.214G>A (p.Gly72Arg)
|
|
|
NM_017617.5(NOTCH1):c.2153A>G (p.Asn718Ser)
|
rs1843232044
|
|
NM_017617.5(NOTCH1):c.2157G>A (p.Glu719=)
|
|
|
NM_017617.5(NOTCH1):c.2169C>T (p.Asn723=)
|
|
|
NM_017617.5(NOTCH1):c.2172C>G (p.Pro724=)
|
|
|
NM_017617.5(NOTCH1):c.2176G>A (p.Val726Ile)
|
|
|
NM_017617.5(NOTCH1):c.2181C>T (p.His727=)
|
|
|
NM_017617.5(NOTCH1):c.2185G>A (p.Ala729Thr)
|
rs1400821402
|
|
NM_017617.5(NOTCH1):c.2185G>T (p.Ala729Ser)
|
|
|
NM_017617.5(NOTCH1):c.2186C>T (p.Ala729Val)
|
rs1843231402
|
|
NM_017617.5(NOTCH1):c.2207+19C>G
|
|
|
NM_017617.5(NOTCH1):c.2208-10C>T
|
|
|
NM_017617.5(NOTCH1):c.2208-11C>G
|
|
|
NM_017617.5(NOTCH1):c.2208-14G>C
|
|
|
NM_017617.5(NOTCH1):c.2210A>T (p.Tyr737Phe)
|
|
|
NM_017617.5(NOTCH1):c.2218G>T (p.Asp740Tyr)
|
|
|
NM_017617.5(NOTCH1):c.2220C>A (p.Asp740Glu)
|
|
|
NM_017617.5(NOTCH1):c.2226C>G (p.Asp742Glu)
|
rs201889382
|
|
NM_017617.5(NOTCH1):c.2243C>A (p.Thr748Asn)
|
rs1284149123
|
|
NM_017617.5(NOTCH1):c.2257A>C (p.Asn753His)
|
|
|
NM_017617.5(NOTCH1):c.2280C>A (p.Asn760Lys)
|
|
|
NM_017617.5(NOTCH1):c.2291A>G (p.Asn764Ser)
|
rs1454630791
|
|
NM_017617.5(NOTCH1):c.2293G>A (p.Gly765Ser)
|
rs993388875
|
|
NM_017617.5(NOTCH1):c.2296G>A (p.Gly766Ser)
|
|
|
NM_017617.5(NOTCH1):c.2296G>C (p.Gly766Arg)
|
|
|
NM_017617.5(NOTCH1):c.2314A>C (p.Thr772Pro)
|
|
|
NM_017617.5(NOTCH1):c.2315C>A (p.Thr772Asn)
|
|
|
NM_017617.5(NOTCH1):c.2318G>A (p.Ser773Asn)
|
|
|
NM_017617.5(NOTCH1):c.2318G>C (p.Ser773Thr)
|
rs758073507
|
|
NM_017617.5(NOTCH1):c.2318G>T (p.Ser773Ile)
|
|
|
NM_017617.5(NOTCH1):c.2319_2354-74del
|
rs2133358321
|
|
NM_017617.5(NOTCH1):c.2326G>T (p.Val776Leu)
|
rs377286829
|
|
NM_017617.5(NOTCH1):c.2326_2328del (p.Val776del)
|
|
|
NM_017617.5(NOTCH1):c.2328G>A (p.Val776=)
|
|
|
NM_017617.5(NOTCH1):c.232G>A (p.Asp78Asn)
|
|
|
NM_017617.5(NOTCH1):c.2333C>T (p.Thr778Ile)
|
|
|
NM_017617.5(NOTCH1):c.2334C>T (p.Thr778=)
|
rs1246624794
|
|
NM_017617.5(NOTCH1):c.2336G>C (p.Cys779Ser)
|
|
|
NM_017617.5(NOTCH1):c.2338C>T (p.Arg780Trp)
|
rs756642176
|
|
NM_017617.5(NOTCH1):c.2346C>A (p.Gly782=)
|
|
|
NM_017617.5(NOTCH1):c.2351G>C (p.Ser784Thr)
|
|
|
NM_017617.5(NOTCH1):c.2353+11T>A
|
|
|
NM_017617.5(NOTCH1):c.2353+16G>A
|
|
|
NM_017617.5(NOTCH1):c.2353+20C>G
|
|
|
NM_017617.5(NOTCH1):c.2354-16G>A
|
|
|
NM_017617.5(NOTCH1):c.2354-8C>T
|
rs779665060
|
|
NM_017617.5(NOTCH1):c.2354-9T>C
|
|
|
NM_017617.5(NOTCH1):c.2359A>C (p.Asn787His)
|
|
|
NM_017617.5(NOTCH1):c.2365C>T (p.Gln789Ter)
|
rs1554729118
|
|
NM_017617.5(NOTCH1):c.2369C>T (p.Thr790Ile)
|
|
|
NM_017617.5(NOTCH1):c.236G>A (p.Arg79His)
|
rs768517628
|
|
NM_017617.5(NOTCH1):c.2372A>G (p.Asn791Ser)
|
rs2133358146
|
|
NM_017617.5(NOTCH1):c.2377_2379del (p.Asn793del)
|
rs587778561
|
|
NM_017617.5(NOTCH1):c.2378A>T (p.Asn793Ile)
|
|
|
NM_017617.5(NOTCH1):c.2379C>G (p.Asn793Lys)
|
|
|
NM_017617.5(NOTCH1):c.2380G>T (p.Glu794Ter)
|
rs1554729113
|
|
NM_017617.5(NOTCH1):c.2387C>T (p.Ala796Val)
|
|
|
NM_017617.5(NOTCH1):c.2405A>G (p.Asn802Ser)
|
rs2133358091
|
|
NM_017617.5(NOTCH1):c.240A>G (p.Arg80=)
|
|
|
NM_017617.5(NOTCH1):c.2410G>C (p.Gly804Arg)
|
|
|
NM_017617.5(NOTCH1):c.2414C>T (p.Thr805Met)
|
|
|
NM_017617.5(NOTCH1):c.2415G>A (p.Thr805=)
|
rs774284462
|
|
NM_017617.5(NOTCH1):c.2415G>C (p.Thr805=)
|
rs774284462
|
|
NM_017617.5(NOTCH1):c.2415G>T (p.Thr805=)
|
|
|
NM_017617.5(NOTCH1):c.2416T>A (p.Cys806Ser)
|
rs1805487567
|
|
NM_017617.5(NOTCH1):c.2420T>C (p.Ile807Thr)
|
rs1265223880
|
|
NM_017617.5(NOTCH1):c.2424C>T (p.Asp808=)
|
|
|
NM_017617.5(NOTCH1):c.2428G>C (p.Val810Leu)
|
rs948647691
|
|
NM_017617.5(NOTCH1):c.242G>T (p.Gly81Val)
|
|
|
NM_017617.5(NOTCH1):c.2435G>C (p.Gly812Ala)
|
rs1843208318
|
|
NM_017617.5(NOTCH1):c.2439C>T (p.Tyr813=)
|
rs1057515422
|
|
NM_017617.5(NOTCH1):c.2446A>G (p.Asn816Asp)
|
rs1589064290
|
|
NM_017617.5(NOTCH1):c.2447A>G (p.Asn816Ser)
|
|
|
NM_017617.5(NOTCH1):c.2448C>T (p.Asn816=)
|
rs1422745093
|
|
NM_017617.5(NOTCH1):c.2448dup (p.Cys817fs)
|
rs1589064285
|
|
NM_017617.5(NOTCH1):c.244G>T (p.Val82Leu)
|
rs571831870
|
|
NM_017617.5(NOTCH1):c.2452C>G (p.Leu818Val)
|
rs199841979
|
|
NM_017617.5(NOTCH1):c.2460C>G (p.Pro820=)
|
|
|
NM_017617.5(NOTCH1):c.2466A>G (p.Thr822=)
|
|
|
NM_017617.5(NOTCH1):c.2467+17dup
|
|
|
NM_017617.5(NOTCH1):c.2467+7G>T
|
rs1843207149
|
|
NM_017617.5(NOTCH1):c.2468-10C>T
|
rs2133355112
|
|
NM_017617.5(NOTCH1):c.2468-5C>A
|
rs932196144
|
|
NM_017617.5(NOTCH1):c.2468-5C>T
|
|
|
NM_017617.5(NOTCH1):c.2468-6C>G
|
|
|
NM_017617.5(NOTCH1):c.2475G>A (p.Thr825=)
|
rs766045141
|
|
NM_017617.5(NOTCH1):c.2479G>A (p.Glu827Lys)
|
rs760376139
|
|
NM_017617.5(NOTCH1):c.2481G>A (p.Glu827=)
|
|
|
NM_017617.5(NOTCH1):c.2491G>A (p.Ala831Thr)
|
|
|
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.2504_2506del (p.Pro835_Ser836delinsArg)
|
|
|
NM_017617.5(NOTCH1):c.2509C>T (p.Pro837Ser)
|
rs1843176956
|
|
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.2521G>C (p.Gly841Arg)
|
|
|
NM_017617.5(NOTCH1):c.2526G>A (p.Gly842=)
|
|
|
NM_017617.5(NOTCH1):c.2527G>A (p.Glu843Lys)
|
rs750170645
|
|
NM_017617.5(NOTCH1):c.2529G>A (p.Glu843=)
|
rs1191070636
|
|
NM_017617.5(NOTCH1):c.2538A>G (p.Gln846=)
|
|
|
NM_017617.5(NOTCH1):c.2540C>G (p.Ser847Cys)
|
|
|
NM_017617.5(NOTCH1):c.254A>G (p.Tyr85Cys)
|
|
|
NM_017617.5(NOTCH1):c.2558T>G (p.Phe853Cys)
|
rs1843175664
|
|
NM_017617.5(NOTCH1):c.2558_2560del (p.Phe853del)
|
rs779164170
|
|
NM_017617.5(NOTCH1):c.256G>T (p.Ala86Ser)
|
rs373941045
|
|
NM_017617.5(NOTCH1):c.2574C>T (p.Pro858=)
|
rs1589063028
|
|
NM_017617.5(NOTCH1):c.2580C>T (p.Gly860=)
|
rs761604720
|
|
NM_017617.5(NOTCH1):c.2587+19C>G
|
rs577190264
|
|
NM_017617.5(NOTCH1):c.2587+19C>T
|
|
|
NM_017617.5(NOTCH1):c.2587+1G>T
|
|
|
NM_017617.5(NOTCH1):c.2588-11C>G
|
|
|
NM_017617.5(NOTCH1):c.2588-17del
|
|
|
NM_017617.5(NOTCH1):c.2588-20G>A
|
rs371359766
|
|
NM_017617.5(NOTCH1):c.2588-20G>C
|
|
|
NM_017617.5(NOTCH1):c.2588-7C>T
|
|
|
NM_017617.5(NOTCH1):c.258C>G (p.Ala86=)
|
|
|
NM_017617.5(NOTCH1):c.2594C>T (p.Thr865Ile)
|
|
|
NM_017617.5(NOTCH1):c.2595C>T (p.Thr865=)
|
|
|
NM_017617.5(NOTCH1):c.260G>A (p.Cys87Tyr)
|
|
|
NM_017617.5(NOTCH1):c.2613C>G (p.Asn871Lys)
|
|
|
NM_017617.5(NOTCH1):c.2619C>T (p.Cys873=)
|
|
|
NM_017617.5(NOTCH1):c.2623C>A (p.Leu875Met)
|
|
|
NM_017617.5(NOTCH1):c.262A>G (p.Ser88Gly)
|
|
|
NM_017617.5(NOTCH1):c.2631G>C (p.Pro877=)
|
|
|
NM_017617.5(NOTCH1):c.2636G>T (p.Arg879Leu)
|
rs368011392
|
|
NM_017617.5(NOTCH1):c.2655G>C (p.Gln885His)
|
rs2133353313
|
|
NM_017617.5(NOTCH1):c.2661C>T (p.Thr887=)
|
|
|
NM_017617.5(NOTCH1):c.2666G>T (p.Gly889Val)
|
rs1554728783
|
|
NM_017617.5(NOTCH1):c.2670C>T (p.Gly890=)
|
|
|
NM_017617.5(NOTCH1):c.2673C>T (p.Tyr891=)
|
|
|
NM_017617.5(NOTCH1):c.2677T>C (p.Cys893Arg)
|
|
|
NM_017617.5(NOTCH1):c.2677T>G (p.Cys893Gly)
|
|
|
NM_017617.5(NOTCH1):c.2679C>T (p.Cys893=)
|
rs373306460
|
|
NM_017617.5(NOTCH1):c.2685C>T (p.Cys895=)
|
rs2133353146
|
|
NM_017617.5(NOTCH1):c.2689G>A (p.Ala897Thr)
|
rs2133353126
|
|
NM_017617.5(NOTCH1):c.2699G>A (p.Ser900Asn)
|
rs1589062647
|
|
NM_017617.5(NOTCH1):c.269_270delinsTG (p.Ala90Val)
|
rs1554730737
|
|
NM_017617.5(NOTCH1):c.2702G>A (p.Gly901Glu)
|
|
|
NM_017617.5(NOTCH1):c.2705G>A (p.Arg902His)
|
rs373075482
|
|
NM_017617.5(NOTCH1):c.2710T>C (p.Cys904Arg)
|
rs1843166003
|
|
NM_017617.5(NOTCH1):c.2717C>T (p.Thr906Ile)
|
rs2133352988
|
|
NM_017617.5(NOTCH1):c.271C>T (p.Leu91=)
|
|
|
NM_017617.5(NOTCH1):c.272T>C (p.Leu91Pro)
|
|
|
NM_017617.5(NOTCH1):c.2740+12C>A
|
|
|
NM_017617.5(NOTCH1):c.2740+12C>G
|
|
|
NM_017617.5(NOTCH1):c.2740+13G>A
|
|
|
NM_017617.5(NOTCH1):c.2740+15G>A
|
|
|
NM_017617.5(NOTCH1):c.2740+16del
|
|
|
NM_017617.5(NOTCH1):c.2740+17C>T
|
|
|
NM_017617.5(NOTCH1):c.2740+18T>C
|
|
|
NM_017617.5(NOTCH1):c.2741-12G>C
|
|
|
NM_017617.5(NOTCH1):c.2741-17C>T
|
|
|
NM_017617.5(NOTCH1):c.2741-6T>A
|
rs2133351503
|
|
NM_017617.5(NOTCH1):c.2741-7C>T
|
|
|
NM_017617.5(NOTCH1):c.2743C>G (p.Pro915Ala)
|
rs878855024
|
|
NM_017617.5(NOTCH1):c.2757G>A (p.Gly919=)
|
rs1843152166
|
|
NM_017617.5(NOTCH1):c.2759G>A (p.Gly920Asp)
|
|
|
NM_017617.5(NOTCH1):c.2759dup (p.Ser921fs)
|
|
|
NM_017617.5(NOTCH1):c.2768C>T (p.Thr923Ile)
|
|
|
NM_017617.5(NOTCH1):c.277T>G (p.Phe93Val)
|
|
|
NM_017617.5(NOTCH1):c.2786C>A (p.Ala929Asp)
|
rs1218875928
|
|
NM_017617.5(NOTCH1):c.2793C>T (p.Cys931=)
|
rs557156741
|
|
NM_017617.5(NOTCH1):c.2794G>A (p.Asp932Asn)
|
|
|
NM_017617.5(NOTCH1):c.2802G>A (p.Leu934=)
|
|
|
NM_017617.5(NOTCH1):c.2806G>C (p.Gly936Arg)
|
|
|
NM_017617.5(NOTCH1):c.2811C>T (p.Phe937=)
|
rs2133351104
|
|
NM_017617.5(NOTCH1):c.2834A>T (p.Asp945Val)
|
|
|
NM_017617.5(NOTCH1):c.2839_2841del (p.Asn947del)
|
|
|
NM_017617.5(NOTCH1):c.2841C>T (p.Asn947=)
|
|
|
NM_017617.5(NOTCH1):c.2842G>T (p.Glu948Ter)
|
|
|
NM_017617.5(NOTCH1):c.2844G>A (p.Glu948=)
|
rs2133350962
|
|
NM_017617.5(NOTCH1):c.2849C>T (p.Ala950Val)
|
rs777658333
|
|
NM_017617.5(NOTCH1):c.2851A>G (p.Ser951Gly)
|
rs1843150410
|
|
NM_017617.5(NOTCH1):c.2854G>C (p.Asp952His)
|
|
|
NM_017617.5(NOTCH1):c.2859C>T (p.Pro953=)
|
rs2133350864
|
|
NM_017617.5(NOTCH1):c.2864G>A (p.Arg955His)
|
rs557049479
|
|
NM_017617.5(NOTCH1):c.2868C>A (p.Asn956Lys)
|
rs760227470
|
|
NM_017617.5(NOTCH1):c.2871G>T (p.Gly957=)
|
|
|
NM_017617.5(NOTCH1):c.2880C>A (p.Cys960Ter)
|
|
|
NM_017617.5(NOTCH1):c.2883G>A (p.Thr961=)
|
|
|
NM_017617.5(NOTCH1):c.2883G>T (p.Thr961=)
|
rs774785001
|
|
NM_017617.5(NOTCH1):c.2890G>A (p.Val964Met)
|
|
|
NM_017617.5(NOTCH1):c.2896A>G (p.Ser966Gly)
|
|
|
NM_017617.5(NOTCH1):c.2898_2899delinsGA (p.Ser966_Tyr967delinsArgAsn)
|
rs1843149230
|
|
NM_017617.5(NOTCH1):c.289C>T (p.Leu97Phe)
|
|
|
NM_017617.5(NOTCH1):c.2902A>G (p.Thr968Ala)
|
|
|
NM_017617.5(NOTCH1):c.2918C>T (p.Ala973Val)
|
|
|
NM_017617.5(NOTCH1):c.2919A>G (p.Ala973=)
|
rs766105850
|
|
NM_017617.5(NOTCH1):c.2922C>T (p.Gly974=)
|
rs1380594425
|
|
NM_017617.5(NOTCH1):c.2931G>A (p.Gly977=)
|
|
|
NM_017617.5(NOTCH1):c.2931G>C (p.Gly977=)
|
rs767071793
|
|
NM_017617.5(NOTCH1):c.2935C>T (p.His979Tyr)
|
rs1380298048
|
|
NM_017617.5(NOTCH1):c.2950A>G (p.Thr984Ala)
|
rs1843147969
|
|
NM_017617.5(NOTCH1):c.2952G>C (p.Thr984=)
|
|
|
NM_017617.5(NOTCH1):c.2958C>T (p.Asp986=)
|
rs775739575
|
|
NM_017617.5(NOTCH1):c.2963C>T (p.Thr988Ile)
|
rs1843147704
|
|
NM_017617.5(NOTCH1):c.2969+13C>G
|
|
|
NM_017617.5(NOTCH1):c.2969+18G>A
|
|
|
NM_017617.5(NOTCH1):c.2969+2TG[3]
|
|
|
NM_017617.5(NOTCH1):c.2969+6C>T
|
|
|
NM_017617.5(NOTCH1):c.2969+9G>A
|
|
|
NM_017617.5(NOTCH1):c.2970-10C>T
|
rs2133349102
|
|
NM_017617.5(NOTCH1):c.2970-20G>T
|
rs367927174
|
|
NM_017617.5(NOTCH1):c.2970-5T>G
|
|
|
NM_017617.5(NOTCH1):c.2970-7C>T
|
|
|
NM_017617.5(NOTCH1):c.2970-7del
|
rs34868738
|
|
NM_017617.5(NOTCH1):c.2970-9C>G
|
|
|
NM_017617.5(NOTCH1):c.2994C>T (p.Cys998=)
|
|
|
NM_017617.5(NOTCH1):c.299C>T (p.Thr100Ile)
|
|
|
NM_017617.5(NOTCH1):c.3000C>T (p.Asp1000=)
|
|
|
NM_017617.5(NOTCH1):c.3016A>T (p.Thr1006Ser)
|
|
|
NM_017617.5(NOTCH1):c.301C>A (p.Pro101Thr)
|
rs746491686
|
|
NM_017617.5(NOTCH1):c.3036C>T (p.Gly1012=)
|
|
|
NM_017617.5(NOTCH1):c.3042G>C (p.Thr1014=)
|
|
|
NM_017617.5(NOTCH1):c.3045C>T (p.Gly1015=)
|
rs2133348920
|
|
NM_017617.5(NOTCH1):c.304C>T (p.Leu102=)
|
|
|
NM_017617.5(NOTCH1):c.305T>G (p.Leu102Arg)
|
rs2133379239
|
|
NM_017617.5(NOTCH1):c.3060C>T (p.His1020=)
|
|
|
NM_017617.5(NOTCH1):c.3061G>C (p.Asp1021His)
|
|
|
NM_017617.5(NOTCH1):c.3067A>G (p.Asn1023Asp)
|
|
|
NM_017617.5(NOTCH1):c.3087C>A (p.Pro1029=)
|
|
|
NM_017617.5(NOTCH1):c.3087C>T (p.Pro1029=)
|
|
|
NM_017617.5(NOTCH1):c.3104C>T (p.Thr1035Ile)
|
rs886039138
|
|
NM_017617.5(NOTCH1):c.3109C>G (p.Gln1037Glu)
|
rs878855025
|
|
NM_017617.5(NOTCH1):c.3110A>G (p.Gln1037Arg)
|
rs1408874772
|
|
NM_017617.5(NOTCH1):c.3112G>A (p.Asp1038Asn)
|
rs2133348754
|
|
NM_017617.5(NOTCH1):c.3118T>C (p.Cys1040Arg)
|
rs1060502235
|
|
NM_017617.5(NOTCH1):c.3129C>T (p.Tyr1043=)
|
rs752650941
|
|
NM_017617.5(NOTCH1):c.3137C>A (p.Thr1046Asn)
|
|
|
NM_017617.5(NOTCH1):c.3140G>A (p.Cys1047Tyr)
|
rs1843132240
|
|
NM_017617.5(NOTCH1):c.3143C>A (p.Pro1048His)
|
|
|
NM_017617.5(NOTCH1):c.3150C>A (p.Gly1050=)
|
rs1060504523
|
|
NM_017617.5(NOTCH1):c.3155C>T (p.Thr1052Ile)
|
|
|
NM_017617.5(NOTCH1):c.3156T>G (p.Thr1052=)
|
|
|
NM_017617.5(NOTCH1):c.3160C>T (p.Pro1054Ser)
|
|
|
NM_017617.5(NOTCH1):c.3165C>A (p.Asn1055Lys)
|
rs1431940702
|
|
NM_017617.5(NOTCH1):c.3171+11C>T
|
|
|
NM_017617.5(NOTCH1):c.3171+14C>G
|
|
|
NM_017617.5(NOTCH1):c.3171+3G>A
|
|
|
NM_017617.5(NOTCH1):c.3171+6del
|
|
|
NM_017617.5(NOTCH1):c.3172-14C>T
|
|
|
NM_017617.5(NOTCH1):c.3172-4C>G
|
|
|
NM_017617.5(NOTCH1):c.3172-4C>T
|
|
|
NM_017617.5(NOTCH1):c.3172-5C>G
|
|
|
NM_017617.5(NOTCH1):c.3181C>T (p.His1061Tyr)
|
rs766126767
|
|
NM_017617.5(NOTCH1):c.3192C>T (p.Asp1064=)
|
rs587778565
|
|
NM_017617.5(NOTCH1):c.3197C>T (p.Ser1066Leu)
|
|
|
NM_017617.5(NOTCH1):c.3221G>A (p.Cys1074Tyr)
|
rs1843122994
|
|
NM_017617.5(NOTCH1):c.3230C>T (p.Thr1077Ile)
|
rs1843122920
|
|
NM_017617.5(NOTCH1):c.3232C>T (p.His1078Tyr)
|
rs1233569898
|
|
NM_017617.5(NOTCH1):c.3236C>T (p.Thr1079Ile)
|
|
|
NM_017617.5(NOTCH1):c.3245G>T (p.Arg1082Leu)
|
rs758471372
|
|
NM_017617.5(NOTCH1):c.3250G>C (p.Glu1084Gln)
|
rs766361207
|
|
NM_017617.5(NOTCH1):c.3257C>G (p.Pro1086Arg)
|
|
|
NM_017617.5(NOTCH1):c.3260G>A (p.Ser1087Asn)
|
|
|
NM_017617.5(NOTCH1):c.3261C>A (p.Ser1087Arg)
|
|
|
NM_017617.5(NOTCH1):c.3262G>A (p.Gly1088Ser)
|
rs531420022
|
|
NM_017617.5(NOTCH1):c.3262G>C (p.Gly1088Arg)
|
rs531420022
|
|
NM_017617.5(NOTCH1):c.3263G>A (p.Gly1088Asp)
|
|
|
NM_017617.5(NOTCH1):c.3266G>A (p.Trp1089Ter)
|
rs1554728428
|
|
NM_017617.5(NOTCH1):c.3271G>T (p.Gly1091Cys)
|
|
|
NM_017617.5(NOTCH1):c.3281G>A (p.Cys1094Tyr)
|
rs1554728424
|
|
NM_017617.5(NOTCH1):c.3283G>A (p.Asp1095Asn)
|
|
|
NM_017617.5(NOTCH1):c.3291C>T (p.Pro1097=)
|
rs1234909362
|
|
NM_017617.5(NOTCH1):c.3295G>A (p.Val1099Met)
|
|
|
NM_017617.5(NOTCH1):c.3295G>T (p.Val1099Leu)
|
|
|
NM_017617.5(NOTCH1):c.3300C>G (p.Ser1100=)
|
rs1484716795
|
|
NM_017617.5(NOTCH1):c.3312T>A (p.Ala1104=)
|
rs2133347063
|
|
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.3325+10T>C
|
rs1060504526
|
|
NM_017617.5(NOTCH1):c.3325+18C>T
|
rs762473735
|
|
NM_017617.5(NOTCH1):c.3326-13C>A
|
|
|
NM_017617.5(NOTCH1):c.3326-14C>G
|
|
|
NM_017617.5(NOTCH1):c.3326-15C>A
|
rs371180086
|
|
NM_017617.5(NOTCH1):c.3326-8C>T
|
rs2133346689
|
|
NM_017617.5(NOTCH1):c.3326-9C>T
|
rs994509635
|
|
NM_017617.5(NOTCH1):c.3326G>C (p.Gly1109Ala)
|
rs772310059
|
|
NM_017617.5(NOTCH1):c.3327T>C (p.Gly1109=)
|
|
|
NM_017617.5(NOTCH1):c.3344T>C (p.Leu1115Pro)
|
|
|
NM_017617.5(NOTCH1):c.3345G>T (p.Leu1115=)
|
rs752440904
|
|
NM_017617.5(NOTCH1):c.3353A>G (p.His1118Arg)
|
rs1843118145
|
|
NM_017617.5(NOTCH1):c.3356G>T (p.Gly1119Val)
|
|
|
NM_017617.5(NOTCH1):c.335G>A (p.Arg112His)
|
rs768625801
|
|
NM_017617.5(NOTCH1):c.335G>T (p.Arg112Leu)
|
|
|
NM_017617.5(NOTCH1):c.3365G>A (p.Cys1122Tyr)
|
rs1589060802
|
|
NM_017617.5(NOTCH1):c.3370G>A (p.Asp1124Asn)
|
rs1564192948
|
|
NM_017617.5(NOTCH1):c.3372C>T (p.Asp1124=)
|
rs530959956
|
|
NM_017617.5(NOTCH1):c.3383C>T (p.Thr1128Met)
|
|
|
NM_017617.5(NOTCH1):c.338A>G (p.Asn113Ser)
|
|
|
NM_017617.5(NOTCH1):c.3394C>T (p.Arg1132Cys)
|
|
|
NM_017617.5(NOTCH1):c.3395G>A (p.Arg1132His)
|
rs1336014812
|
|
NM_017617.5(NOTCH1):c.3401_3402delinsTT (p.Gln1134Leu)
|
|
|
NM_017617.5(NOTCH1):c.3403G>A (p.Ala1135Thr)
|
rs1554728380
|
|
NM_017617.5(NOTCH1):c.3417C>T (p.Gly1139=)
|
rs753526994
|
|
NM_017617.5(NOTCH1):c.3426T>C (p.Cys1142=)
|
|
|
NM_017617.5(NOTCH1):c.3451C>T (p.Pro1151Ser)
|
|
|
NM_017617.5(NOTCH1):c.3455G>C (p.Ser1152Thr)
|
rs1843116111
|
|
NM_017617.5(NOTCH1):c.3456C>A (p.Ser1152Arg)
|
rs1354855330
|
|
NM_017617.5(NOTCH1):c.3465G>A (p.Gln1155=)
|
|
|
NM_017617.5(NOTCH1):c.3465G>C (p.Gln1155His)
|
|
|
NM_017617.5(NOTCH1):c.3495C>A (p.Gly1165=)
|
|
|
NM_017617.5(NOTCH1):c.3504C>G (p.Ser1168=)
|
|
|
NM_017617.5(NOTCH1):c.3504C>T (p.Ser1168=)
|
rs1475139232
|
|
NM_017617.5(NOTCH1):c.3510+11C>T
|
rs1057524613
|
|
NM_017617.5(NOTCH1):c.3510+17G>A
|
|
|
NM_017617.5(NOTCH1):c.3510+18G>A
|
|
|
NM_017617.5(NOTCH1):c.3510+3G>C
|
rs372739350
|
|
NM_017617.5(NOTCH1):c.3510+9C>T
|
|
|
NM_017617.5(NOTCH1):c.3511-13G>A
|
|
|
NM_017617.5(NOTCH1):c.3511-15C>G
|
|
|
NM_017617.5(NOTCH1):c.3511-18G>A
|
|
|
NM_017617.5(NOTCH1):c.3511-18G>T
|
rs780629106
|
|
NM_017617.5(NOTCH1):c.3520G>A (p.Gly1174Ser)
|
rs1272399533
|
|
NM_017617.5(NOTCH1):c.352G>A (p.Asp118Asn)
|
rs745590123
|
|
NM_017617.5(NOTCH1):c.3530G>C (p.Gly1177Ala)
|
|
|
NM_017617.5(NOTCH1):c.3537C>G (p.Asn1179Lys)
|
|
|
NM_017617.5(NOTCH1):c.3539G>A (p.Cys1180Tyr)
|
rs1218904003
|
|
NM_017617.5(NOTCH1):c.3541T>C (p.Ser1181Pro)
|
|
|
NM_017617.5(NOTCH1):c.3542C>T (p.Ser1181Phe)
|
|
|
NM_017617.5(NOTCH1):c.3544GAG[1] (p.Glu1183del)
|
rs1370411882
|
|
NM_017617.5(NOTCH1):c.3547G>A (p.Glu1183Lys)
|
rs1300209111
|
|
NM_017617.5(NOTCH1):c.3549G>A (p.Glu1183=)
|
rs760814014
|
|
NM_017617.5(NOTCH1):c.3549G>T (p.Glu1183Asp)
|
|
|
NM_017617.5(NOTCH1):c.354C>T (p.Asp118=)
|
|
|
NM_017617.5(NOTCH1):c.3550A>T (p.Ile1184Phe)
|
|
|
NM_017617.5(NOTCH1):c.3551T>C (p.Ile1184Thr)
|
|
|
NM_017617.5(NOTCH1):c.3556G>A (p.Glu1186Lys)
|
|
|
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.3585G>A (p.Gly1195=)
|
rs1843105001
|
|
NM_017617.5(NOTCH1):c.3596T>C (p.Leu1199Pro)
|
|
|
NM_017617.5(NOTCH1):c.3604C>T (p.Pro1202Ser)
|
rs1554728268
|
|
NM_017617.5(NOTCH1):c.3609C>A (p.Asn1203Lys)
|
rs1843104558
|
|
NM_017617.5(NOTCH1):c.3638C>G (p.Thr1213Ser)
|
rs750536437
|
|
NM_017617.5(NOTCH1):c.3643+16C>T
|
|
|
NM_017617.5(NOTCH1):c.3644-14A>G
|
|
|
NM_017617.5(NOTCH1):c.3649C>T (p.His1217Tyr)
|
rs1327576450
|
|
NM_017617.5(NOTCH1):c.3660C>T (p.Ile1220=)
|
|
|
NM_017617.5(NOTCH1):c.3667G>A (p.Asp1223Asn)
|
|
|
NM_017617.5(NOTCH1):c.3667G>T (p.Asp1223Tyr)
|
|
|
NM_017617.5(NOTCH1):c.3677A>G (p.Asn1226Ser)
|
|
|
NM_017617.5(NOTCH1):c.3683C>T (p.Pro1228Leu)
|
rs561646185
|
|
NM_017617.5(NOTCH1):c.3684del (p.Val1229fs)
|
|
|
NM_017617.5(NOTCH1):c.3689A>C (p.Asp1230Ala)
|
|
|
NM_017617.5(NOTCH1):c.3692C>A (p.Pro1231His)
|
|
|
NM_017617.5(NOTCH1):c.3693C>G (p.Pro1231=)
|
|
|
NM_017617.5(NOTCH1):c.3707C>T (p.Pro1236Leu)
|
|
|
NM_017617.5(NOTCH1):c.3715T>C (p.Phe1239Leu)
|
rs1478449371
|
|
NM_017617.5(NOTCH1):c.3715T>G (p.Phe1239Val)
|
|
|
NM_017617.5(NOTCH1):c.3725G>C (p.Gly1242Ala)
|
|
|
NM_017617.5(NOTCH1):c.3728C>T (p.Thr1243Ile)
|
|
|
NM_017617.5(NOTCH1):c.3730T>G (p.Cys1244Gly)
|
|
|
NM_017617.5(NOTCH1):c.3732C>G (p.Cys1244Trp)
|
|
|
NM_017617.5(NOTCH1):c.3747C>T (p.Gly1249=)
|
|
|
NM_017617.5(NOTCH1):c.374A>T (p.Tyr125Phe)
|
rs779240492
|
|
NM_017617.5(NOTCH1):c.3768G>T (p.Pro1256=)
|
rs779987984
|
|
NM_017617.5(NOTCH1):c.376A>G (p.Lys126Glu)
|
rs1589072528
|
|
NM_017617.5(NOTCH1):c.3770C>G (p.Pro1257Arg)
|
|
|
NM_017617.5(NOTCH1):c.3778G>T (p.Val1260Leu)
|
|
|
NM_017617.5(NOTCH1):c.3788G>T (p.Arg1263Leu)
|
|
|
NM_017617.5(NOTCH1):c.3792_3793del (p.Cys1264_Glu1265delinsTer)
|
|
|
NM_017617.5(NOTCH1):c.3812G>A (p.Cys1271Tyr)
|
|
|
NM_017617.5(NOTCH1):c.3813C>T (p.Cys1271=)
|
|
|
NM_017617.5(NOTCH1):c.3814C>T (p.Leu1272=)
|
|
|
NM_017617.5(NOTCH1):c.3819C>G (p.Ser1273=)
|
rs2133343514
|
|
NM_017617.5(NOTCH1):c.3832G>A (p.Ala1278Thr)
|
rs1406056612
|
|
NM_017617.5(NOTCH1):c.3833C>T (p.Ala1278Val)
|
|
|
NM_017617.5(NOTCH1):c.383G>T (p.Arg128Leu)
|
|
|
NM_017617.5(NOTCH1):c.3852C>G (p.Cys1284Trp)
|
rs377289044
|
|
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.3868G>A (p.Asp1290Asn)
|
|
|
NM_017617.5(NOTCH1):c.3870C>G (p.Asp1290Glu)
|
|
|
NM_017617.5(NOTCH1):c.387C>T (p.Cys129=)
|
|
|
NM_017617.5(NOTCH1):c.3880G>A (p.Glu1294Lys)
|
|
|
NM_017617.5(NOTCH1):c.3886C>A (p.Arg1296Ser)
|
rs1056341092
|
|
NM_017617.5(NOTCH1):c.3890C>T (p.Ala1297Val)
|
|
|
NM_017617.5(NOTCH1):c.3891T>C (p.Ala1297=)
|
|
|
NM_017617.5(NOTCH1):c.3900C>G (p.Thr1300=)
|
|
|
NM_017617.5(NOTCH1):c.3901+11C>T
|
|
|
NM_017617.5(NOTCH1):c.3901+20G>A
|
|
|
NM_017617.5(NOTCH1):c.3901+4G>A
|
|
|
NM_017617.5(NOTCH1):c.3901+5G>A
|
|
|
NM_017617.5(NOTCH1):c.3901+9C>A
|
|
|
NM_017617.5(NOTCH1):c.3902-5C>T
|
|
|
NM_017617.5(NOTCH1):c.3902-6C>T
|
rs1226411358
|
|
NM_017617.5(NOTCH1):c.3902-7C>T
|
|
|
NM_017617.5(NOTCH1):c.3907C>T (p.Arg1303Cys)
|
|
|
NM_017617.5(NOTCH1):c.390G>C (p.Pro130=)
|
|
|
NM_017617.5(NOTCH1):c.390G>T (p.Pro130=)
|
rs61751559
|
|
NM_017617.5(NOTCH1):c.3912C>T (p.Cys1304=)
|
|
|
NM_017617.5(NOTCH1):c.3913G>C (p.Glu1305Gln)
|
|
|
NM_017617.5(NOTCH1):c.3915G>A (p.Glu1305=)
|
rs1554728133
|
|
NM_017617.5(NOTCH1):c.3919G>A (p.Val1307Ile)
|
|
|
NM_017617.5(NOTCH1):c.3936A>C (p.Lys1312Asn)
|
|
|
NM_017617.5(NOTCH1):c.394G>A (p.Gly132Ser)
|
|
|
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.3977C>T (p.Ser1326Phe)
|
|
|
NM_017617.5(NOTCH1):c.3984C>T (p.Thr1328=)
|
|
|
NM_017617.5(NOTCH1):c.3985G>A (p.Ala1329Thr)
|
rs763098618
|
|
NM_017617.5(NOTCH1):c.4001G>A (p.Cys1334Tyr)
|
|
|
NM_017617.5(NOTCH1):c.4014+9A>G
|
rs1843087537
|
|
NM_017617.5(NOTCH1):c.4014G>C (p.Ala1338=)
|
rs377217445
|
|
NM_017617.5(NOTCH1):c.4015-19T>C
|
|
|
NM_017617.5(NOTCH1):c.4015-6G>A
|
|
|
NM_017617.5(NOTCH1):c.4016G>C (p.Gly1339Ala)
|
rs1131692021
|
|
NM_017617.5(NOTCH1):c.4020C>T (p.Phe1340=)
|
|
|
NM_017617.5(NOTCH1):c.4021G>A (p.Glu1341Lys)
|
|
|
NM_017617.5(NOTCH1):c.4021G>T (p.Glu1341Ter)
|
|
|
NM_017617.5(NOTCH1):c.4025G>A (p.Gly1342Asp)
|
|
|
NM_017617.5(NOTCH1):c.4026C>T (p.Gly1342=)
|
|
|
NM_017617.5(NOTCH1):c.4029C>A (p.Ala1343=)
|
rs969014492
|
|
NM_017617.5(NOTCH1):c.403+14C>T
|
|
|
NM_017617.5(NOTCH1):c.403+16C>T
|
|
|
NM_017617.5(NOTCH1):c.403+19C>T
|
|
|
NM_017617.5(NOTCH1):c.403+3G>A
|
|
|
NM_017617.5(NOTCH1):c.403+3del
|
rs2133378865
|
|
NM_017617.5(NOTCH1):c.4031C>G (p.Thr1344Arg)
|
rs201215245
|
|
NM_017617.5(NOTCH1):c.4031C>T (p.Thr1344Met)
|
rs201215245
|
|
NM_017617.5(NOTCH1):c.4032G>A (p.Thr1344=)
|
|
|
NM_017617.5(NOTCH1):c.404-5T>C
|
rs1229789449
|
|
NM_017617.5(NOTCH1):c.404-6C>G
|
|
|
NM_017617.5(NOTCH1):c.4044C>T (p.Asp1348=)
|
|
|
NM_017617.5(NOTCH1):c.4045G>A (p.Ala1349Thr)
|
rs553328686
|
|
NM_017617.5(NOTCH1):c.4049G>A (p.Arg1350His)
|
rs150343794
|
|
NM_017617.5(NOTCH1):c.4049G>C (p.Arg1350Pro)
|
rs150343794
|
|
NM_017617.5(NOTCH1):c.4049G>T (p.Arg1350Leu)
|
rs150343794
|
|
NM_017617.5(NOTCH1):c.4053C>A (p.Thr1351=)
|
rs1267241464
|
|
NM_017617.5(NOTCH1):c.4058G>A (p.Gly1353Asp)
|
rs1274662962
|
|
NM_017617.5(NOTCH1):c.405G>A (p.Gly135=)
|
|
|
NM_017617.5(NOTCH1):c.4064T>C (p.Leu1355Pro)
|
rs1589059022
|
|
NM_017617.5(NOTCH1):c.4071C>A (p.Cys1357Ter)
|
rs1564191302
|
|
NM_017617.5(NOTCH1):c.4081G>A (p.Gly1361Ser)
|
|
|
NM_017617.5(NOTCH1):c.4091T>C (p.Ile1364Thr)
|
|
|
NM_017617.5(NOTCH1):c.4096G>C (p.Gly1366Arg)
|
rs778270588
|
|
NM_017617.5(NOTCH1):c.4098C>G (p.Gly1366=)
|
rs2133340927
|
|
NM_017617.5(NOTCH1):c.410C>A (p.Ser137Ter)
|
|
|
NM_017617.5(NOTCH1):c.410C>T (p.Ser137Leu)
|
|
|
NM_017617.5(NOTCH1):c.4112C>T (p.Thr1371Ile)
|
|
|
NM_017617.5(NOTCH1):c.411G>T (p.Ser137=)
|
rs560826996
|
|
NM_017617.5(NOTCH1):c.4120T>C (p.Cys1374Arg)
|
rs864622060
|
|
NM_017617.5(NOTCH1):c.4127del (p.Gly1376fs)
|
rs1589058964
|
|
NM_017617.5(NOTCH1):c.4128C>G (p.Gly1376=)
|
rs1292953898
|
|
NM_017617.5(NOTCH1):c.4130C>T (p.Pro1377Leu)
|
rs1843073620
|
|
NM_017617.5(NOTCH1):c.4137G>C (p.Thr1379=)
|
rs762733162
|
|
NM_017617.5(NOTCH1):c.4141C>T (p.Pro1381Ser)
|
rs1589058950
|
|
NM_017617.5(NOTCH1):c.4142C>T (p.Pro1381Leu)
|
rs752551426
|
|
NM_017617.5(NOTCH1):c.4144G>A (p.Glu1382Lys)
|
|
|
NM_017617.5(NOTCH1):c.4149C>T (p.Cys1383=)
|
rs1843072777
|
|
NM_017617.5(NOTCH1):c.415C>T (p.Gln139Ter)
|
rs1554730670
|
|
NM_017617.5(NOTCH1):c.4162A>C (p.Ser1388Arg)
|
rs2133340569
|
|
NM_017617.5(NOTCH1):c.4169C>T (p.Pro1390Leu)
|
|
|
NM_017617.5(NOTCH1):c.4173C>T (p.Cys1391=)
|
rs1589058923
|
|
NM_017617.5(NOTCH1):c.4181G>A (p.Gly1394Asp)
|
|
|
NM_017617.5(NOTCH1):c.4183A>G (p.Asn1395Asp)
|
|
|
NM_017617.5(NOTCH1):c.4185C>A (p.Asn1395Lys)
|
|
|
NM_017617.5(NOTCH1):c.4212G>A (p.Glu1404=)
|
rs2133340344
|
|
NM_017617.5(NOTCH1):c.4213C>T (p.Pro1405Ser)
|
rs1416597670
|
|
NM_017617.5(NOTCH1):c.4214C>T (p.Pro1405Leu)
|
|
|
NM_017617.5(NOTCH1):c.4221C>T (p.Ser1407=)
|
|
|
NM_017617.5(NOTCH1):c.4222G>T (p.Glu1408Ter)
|
rs587778569
|
|
NM_017617.5(NOTCH1):c.4228C>T (p.Pro1410Ser)
|
|
|
NM_017617.5(NOTCH1):c.4235A>G (p.Tyr1412Cys)
|
rs2133340251
|
|
NM_017617.5(NOTCH1):c.4236C>T (p.Tyr1412=)
|
|
|
NM_017617.5(NOTCH1):c.4237C>T (p.Arg1413Cys)
|
rs1348438354
|
|
NM_017617.5(NOTCH1):c.4241G>C (p.Cys1414Ser)
|
rs1554728005
|
|
NM_017617.5(NOTCH1):c.4266G>A (p.Gly1422=)
|
|
|
NM_017617.5(NOTCH1):c.4282C>G (p.Leu1428Val)
|
rs1363126385
|
|
NM_017617.5(NOTCH1):c.4287C>T (p.Asp1429=)
|
rs2133339971
|
|
NM_017617.5(NOTCH1):c.428C>T (p.Pro143Leu)
|
rs1228192276
|
|
NM_017617.5(NOTCH1):c.428del (p.Pro143fs)
|
rs2133377982
|
|
NM_017617.5(NOTCH1):c.4294T>A (p.Phe1432Ile)
|
rs1843069355
|
|
NM_017617.5(NOTCH1):c.4297G>A (p.Gly1433Arg)
|
|
|
NM_017617.5(NOTCH1):c.4297G>C (p.Gly1433Arg)
|
rs751904604
|
|
NM_017617.5(NOTCH1):c.429G>T (p.Pro143=)
|
rs757406877
|
|
NM_017617.5(NOTCH1):c.4304G>C (p.Gly1435Ala)
|
rs1247192040
|
|
NM_017617.5(NOTCH1):c.4311G>T (p.Gly1437=)
|
|
|
NM_017617.5(NOTCH1):c.4312C>A (p.Arg1438Ser)
|
rs746077264
|
|
NM_017617.5(NOTCH1):c.4325C>T (p.Pro1442Leu)
|
|
|
NM_017617.5(NOTCH1):c.4327C>A (p.Pro1443Thr)
|
|
|
NM_017617.5(NOTCH1):c.4332G>A (p.Leu1444=)
|
|
|
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.433G>T (p.Ala145Ser)
|
|
|
NM_017617.5(NOTCH1):c.4343C>T (p.Ala1448Val)
|
|
|
NM_017617.5(NOTCH1):c.4356C>A (p.Pro1452=)
|
|
|
NM_017617.5(NOTCH1):c.4362C>T (p.Cys1454=)
|
rs944984360
|
|
NM_017617.5(NOTCH1):c.4363C>T (p.Gln1455Ter)
|
rs2133339552
|
|
NM_017617.5(NOTCH1):c.4368G>A (p.Glu1456=)
|
|
|
NM_017617.5(NOTCH1):c.436_450dup (p.Ala150_Asn151insSerAsnProCysAla)
|
|
|
NM_017617.5(NOTCH1):c.4374G>C (p.Ala1458=)
|
|
|
NM_017617.5(NOTCH1):c.4383G>A (p.Lys1461=)
|
|
|
NM_017617.5(NOTCH1):c.4383G>T (p.Lys1461Asn)
|
rs2133339457
|
|
NM_017617.5(NOTCH1):c.4384G>A (p.Val1462Ile)
|
|
|
NM_017617.5(NOTCH1):c.4389C>T (p.Cys1463=)
|
|
|
NM_017617.5(NOTCH1):c.438C>T (p.Ser146=)
|
rs1589072128
|
|
NM_017617.5(NOTCH1):c.4393C>G (p.Leu1465Val)
|
rs779863069
|
|
NM_017617.5(NOTCH1):c.4396C>T (p.Gln1466Ter)
|
rs2133339381
|
|
NM_017617.5(NOTCH1):c.4411G>A (p.Ala1471Thr)
|
rs1414066424
|
|
NM_017617.5(NOTCH1):c.4411G>T (p.Ala1471Ser)
|
|
|
NM_017617.5(NOTCH1):c.4412C>A (p.Ala1471Glu)
|
|
|
NM_017617.5(NOTCH1):c.4412C>G (p.Ala1471Gly)
|
rs376799353
|
|
NM_017617.5(NOTCH1):c.4443C>T (p.Leu1481=)
|
rs2133339138
|
|
NM_017617.5(NOTCH1):c.4444A>G (p.Asn1482Asp)
|
rs1843065776
|
|
NM_017617.5(NOTCH1):c.4449C>G (p.Phe1483Leu)
|
|
|
NM_017617.5(NOTCH1):c.4450A>G (p.Asn1484Asp)
|
|
|
NM_017617.5(NOTCH1):c.4467C>G (p.Asn1489Lys)
|
|
|
NM_017617.5(NOTCH1):c.4468T>G (p.Cys1490Gly)
|
rs1843065225
|
|
NM_017617.5(NOTCH1):c.4470C>T (p.Cys1490=)
|
|
|
NM_017617.5(NOTCH1):c.4477T>C (p.Ser1493Pro)
|
|
|
NM_017617.5(NOTCH1):c.4480C>T (p.Leu1494=)
|
|
|
NM_017617.5(NOTCH1):c.4481T>G (p.Leu1494Arg)
|
|
|
NM_017617.5(NOTCH1):c.4482G>A (p.Leu1494=)
|
|
|
NM_017617.5(NOTCH1):c.4482G>T (p.Leu1494=)
|
|
|
NM_017617.5(NOTCH1):c.4483C>T (p.Gln1495Ter)
|
rs1036363986
|
|
NM_017617.5(NOTCH1):c.4483_4504del (p.Gln1495fs)
|
|
|
NM_017617.5(NOTCH1):c.4487G>A (p.Cys1496Tyr)
|
rs587781259
|
|
NM_017617.5(NOTCH1):c.4497C>T (p.Tyr1499=)
|
rs1843064502
|
|
NM_017617.5(NOTCH1):c.4507G>A (p.Gly1503Ser)
|
|
|
NM_017617.5(NOTCH1):c.4507G>C (p.Gly1503Arg)
|
rs1243264280
|
|
NM_017617.5(NOTCH1):c.4513T>C (p.Cys1505Arg)
|
rs1843064220
|
|
NM_017617.5(NOTCH1):c.4520G>A (p.Ser1507Asn)
|
|
|
NM_017617.5(NOTCH1):c.4548C>G (p.Phe1516Leu)
|
|
|
NM_017617.5(NOTCH1):c.4549G>A (p.Asp1517Asn)
|
rs1554727954
|
|
NM_017617.5(NOTCH1):c.4560C>T (p.Asp1520=)
|
rs1057523575
|
|
NM_017617.5(NOTCH1):c.456T>C (p.Gly152=)
|
rs1044385750
|
|
NM_017617.5(NOTCH1):c.4586+11G>A
|
|
|
NM_017617.5(NOTCH1):c.4586+11G>C
|
rs777578180
|
|
NM_017617.5(NOTCH1):c.4586+14G>A
|
|
|
NM_017617.5(NOTCH1):c.4586+17C>T
|
|
|
NM_017617.5(NOTCH1):c.4586+6G>T
|
|
|
NM_017617.5(NOTCH1):c.4587-10C>A
|
|
|
NM_017617.5(NOTCH1):c.4587-10C>T
|
|
|
NM_017617.5(NOTCH1):c.4587-10dup
|
rs766780122
|
|
NM_017617.5(NOTCH1):c.4587-12C>T
|
|
|
NM_017617.5(NOTCH1):c.4587-18G>A
|
|
|
NM_017617.5(NOTCH1):c.4587-1G>T
|
|
|
NM_017617.5(NOTCH1):c.4587-4A>G
|
rs2133337921
|
|
NM_017617.5(NOTCH1):c.4587-5C>G
|
|
|
NM_017617.5(NOTCH1):c.4587-5C>T
|
|
|
NM_017617.5(NOTCH1):c.4587-8C>A
|
rs1470543120
|
|
NM_017617.5(NOTCH1):c.4590C>G (p.Pro1530=)
|
rs1357545431
|
|
NM_017617.5(NOTCH1):c.4593G>A (p.Leu1531=)
|
|
|
NM_017617.5(NOTCH1):c.4597G>A (p.Asp1533Asn)
|
|
|
NM_017617.5(NOTCH1):c.461A>G (p.Gln154Arg)
|
|
|
NM_017617.5(NOTCH1):c.4622G>C (p.Ser1541Thr)
|
|
|
NM_017617.5(NOTCH1):c.4624G>A (p.Asp1542Asn)
|
rs1339004050
|
|
NM_017617.5(NOTCH1):c.4627G>A (p.Gly1543Arg)
|
rs533102436
|
|
NM_017617.5(NOTCH1):c.4640A>G (p.Gln1547Arg)
|
rs1055806143
|
|
NM_017617.5(NOTCH1):c.4643G>A (p.Gly1548Asp)
|
|
|
NM_017617.5(NOTCH1):c.4659G>A (p.Glu1553=)
|
|
|
NM_017617.5(NOTCH1):c.4663G>T (p.Glu1555Ter)
|
rs746342893
|
|
NM_017617.5(NOTCH1):c.4664A>C (p.Glu1555Ala)
|
rs781602537
|
|
NM_017617.5(NOTCH1):c.4664A>T (p.Glu1555Val)
|
|
|
NM_017617.5(NOTCH1):c.4668G>A (p.Trp1556Ter)
|
rs2133337500
|
|
NM_017617.5(NOTCH1):c.4675C>A (p.Leu1559Met)
|
|
|
NM_017617.5(NOTCH1):c.4685C>A (p.Ala1562Glu)
|
|
|
NM_017617.5(NOTCH1):c.4692T>C (p.His1564=)
|
|
|
NM_017617.5(NOTCH1):c.4699G>A (p.Glu1567Lys)
|
rs1333725995
|
|
NM_017617.5(NOTCH1):c.4720C>T (p.Leu1574=)
|
rs2133337220
|
|
NM_017617.5(NOTCH1):c.4739dup (p.Met1580fs)
|
rs864622061
|
|
NM_017617.5(NOTCH1):c.4740G>A (p.Met1580Ile)
|
rs990474354
|
|
NM_017617.5(NOTCH1):c.4741C>T (p.Pro1581Ser)
|
rs769288225
|
|
NM_017617.5(NOTCH1):c.4749G>A (p.Glu1583=)
|
|
|
NM_017617.5(NOTCH1):c.4753C>T (p.Leu1585=)
|
|
|
NM_017617.5(NOTCH1):c.4758_4759insCA (p.Asn1587fs)
|
rs1843055667
|
|
NM_017617.5(NOTCH1):c.475G>C (p.Glu159Gln)
|
|
|
NM_017617.5(NOTCH1):c.4761C>G (p.Asn1587Lys)
|
|
|
NM_017617.5(NOTCH1):c.4761C>T (p.Asn1587=)
|
rs777947269
|
|
NM_017617.5(NOTCH1):c.4763G>A (p.Ser1588Asn)
|
rs1843055486
|
|
NM_017617.5(NOTCH1):c.4765T>C (p.Ser1589Pro)
|
rs1490218456
|
|
NM_017617.5(NOTCH1):c.4773C>G (p.His1591Gln)
|
|
|
NM_017617.5(NOTCH1):c.4776C>A (p.Phe1592Leu)
|
rs752861485
|
|
NM_017617.5(NOTCH1):c.4778T>C (p.Leu1593Pro)
|
|
|
NM_017617.5(NOTCH1):c.4780C>T (p.Arg1594Trp)
|
|
|
NM_017617.5(NOTCH1):c.4788C>T (p.Leu1596=)
|
rs2133336800
|
|
NM_017617.5(NOTCH1):c.478G>A (p.Ala160Thr)
|
|
|
NM_017617.5(NOTCH1):c.4790G>T (p.Ser1597Ile)
|
rs1564190486
|
|
NM_017617.5(NOTCH1):c.4791C>T (p.Ser1597=)
|
|
|
NM_017617.5(NOTCH1):c.4794C>G (p.Arg1598=)
|
rs558708604
|
|
NM_017617.5(NOTCH1):c.4797G>C (p.Val1599=)
|
|
|
NM_017617.5(NOTCH1):c.4802A>G (p.His1601Arg)
|
rs2133336705
|
|
NM_017617.5(NOTCH1):c.4806C>G (p.Thr1602=)
|
|
|
NM_017617.5(NOTCH1):c.480C>T (p.Ala160=)
|
rs762389418
|
|
NM_017617.5(NOTCH1):c.4812G>C (p.Val1604=)
|
|
|
NM_017617.5(NOTCH1):c.4814T>C (p.Val1605Ala)
|
|
|
NM_017617.5(NOTCH1):c.4815_4816insCCCCCC (p.Val1605_Phe1606insProPro)
|
|
|
NM_017617.5(NOTCH1):c.4820A>G (p.Lys1607Arg)
|
|
|
NM_017617.5(NOTCH1):c.4829C>T (p.Ala1610Val)
|
rs1554727837
|
|
NM_017617.5(NOTCH1):c.4834G>A (p.Gly1612Ser)
|
rs1166328821
|
|
NM_017617.5(NOTCH1):c.4836C>T (p.Gly1612=)
|
|
|
NM_017617.5(NOTCH1):c.4853C>A (p.Pro1618His)
|
|
|
NM_017617.5(NOTCH1):c.4855TAC[1] (p.Tyr1620del)
|
|
|
NM_017617.5(NOTCH1):c.4857C>T (p.Tyr1619=)
|
|
|
NM_017617.5(NOTCH1):c.485A>G (p.Tyr162Cys)
|
|
|
NM_017617.5(NOTCH1):c.4861G>A (p.Gly1621Ser)
|
|
|
NM_017617.5(NOTCH1):c.4864C>T (p.Arg1622Cys)
|
|
|
NM_017617.5(NOTCH1):c.4866C>G (p.Arg1622=)
|
rs772314400
|
|
NM_017617.5(NOTCH1):c.486C>T (p.Tyr162=)
|
|
|
NM_017617.5(NOTCH1):c.4870G>C (p.Glu1624Gln)
|
rs1843052920
|
|
NM_017617.5(NOTCH1):c.4878G>A (p.Leu1626=)
|
|
|
NM_017617.5(NOTCH1):c.4881C>T (p.Arg1627=)
|
|
|
NM_017617.5(NOTCH1):c.4890C>T (p.Pro1630=)
|
|
|
NM_017617.5(NOTCH1):c.4891A>G (p.Ile1631Val)
|
|
|
NM_017617.5(NOTCH1):c.4897C>A (p.Arg1633Ser)
|
|
|
NM_017617.5(NOTCH1):c.4902C>G (p.Ala1634=)
|
|
|
NM_017617.5(NOTCH1):c.4902C>T (p.Ala1634=)
|
|
|
NM_017617.5(NOTCH1):c.4903G>A (p.Ala1635Thr)
|
|
|
NM_017617.5(NOTCH1):c.4908G>T (p.Glu1636Asp)
|
rs1275439825
|
|
NM_017617.5(NOTCH1):c.4911C>G (p.Gly1637=)
|
|
|
NM_017617.5(NOTCH1):c.4915G>A (p.Ala1639Thr)
|
rs878855026
|
|
NM_017617.5(NOTCH1):c.4917C>A (p.Ala1639=)
|
|
|
NM_017617.5(NOTCH1):c.4926C>T (p.Asp1642=)
|
|
|
NM_017617.5(NOTCH1):c.4927G>C (p.Ala1643Pro)
|
|
|
NM_017617.5(NOTCH1):c.4929C>A (p.Ala1643=)
|
|
|
NM_017617.5(NOTCH1):c.4931T>C (p.Leu1644Pro)
|
|
|
NM_017617.5(NOTCH1):c.4932G>C (p.Leu1644=)
|
|
|
NM_017617.5(NOTCH1):c.4938C>A (p.Gly1646=)
|
|
|
NM_017617.5(NOTCH1):c.4941G>A (p.Gln1647=)
|
rs1589058142
|
|
NM_017617.5(NOTCH1):c.4953G>A (p.Ser1651=)
|
rs761306198
|
|
NM_017617.5(NOTCH1):c.4953G>T (p.Ser1651=)
|
rs761306198
|
|
NM_017617.5(NOTCH1):c.4953GCT[1] (p.Leu1653del)
|
|
|
NM_017617.5(NOTCH1):c.4961C>A (p.Pro1654His)
|
rs1381525257
|
|
NM_017617.5(NOTCH1):c.4964G>A (p.Gly1655Asp)
|
|
|
NM_017617.5(NOTCH1):c.4969A>T (p.Ser1657Cys)
|
|
|
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.4982G>A (p.Arg1661Gln)
|
|
|
NM_017617.5(NOTCH1):c.4985G>A (p.Arg1662Gln)
|
rs774808496
|
|
NM_017617.5(NOTCH1):c.4987C>T (p.Arg1663Trp)
|
|
|
NM_017617.5(NOTCH1):c.4988G>T (p.Arg1663Leu)
|
|
|
NM_017617.5(NOTCH1):c.5006T>C (p.Met1669Thr)
|
|
|
NM_017617.5(NOTCH1):c.5007G>A (p.Met1669Ile)
|
|
|
NM_017617.5(NOTCH1):c.5016C>T (p.Arg1672=)
|
rs1251609154
|
|
NM_017617.5(NOTCH1):c.5018+12C>T
|
rs1225398496
|
|
NM_017617.5(NOTCH1):c.5018+5G>A
|
|
|
NM_017617.5(NOTCH1):c.5018+6_5018+9del
|
|
|
NM_017617.5(NOTCH1):c.5019-10G>A
|
|
|
NM_017617.5(NOTCH1):c.5019-13_5019-10del
|
rs374419074
|
|
NM_017617.5(NOTCH1):c.5019-18C>T
|
|
|
NM_017617.5(NOTCH1):c.5019-20CT[2]
|
rs748274615
|
|
NM_017617.5(NOTCH1):c.5019-3C>T
|
|
|
NM_017617.5(NOTCH1):c.5019-9T>C
|
rs1589057393
|
|
NM_017617.5(NOTCH1):c.501A>T (p.Pro167=)
|
rs1554730657
|
|
NM_017617.5(NOTCH1):c.5025C>T (p.Ile1675=)
|
|
|
NM_017617.5(NOTCH1):c.5026G>A (p.Val1676Ile)
|
rs1261408162
|
|
NM_017617.5(NOTCH1):c.5032C>T (p.Leu1678=)
|
|
|
NM_017617.5(NOTCH1):c.5057T>G (p.Val1686Gly)
|
|
|
NM_017617.5(NOTCH1):c.5064C>G (p.Ala1688=)
|
|
|
NM_017617.5(NOTCH1):c.5073G>C (p.Gln1691His)
|
rs61751538
|
|
NM_017617.5(NOTCH1):c.5101G>A (p.Ala1701Thr)
|
rs1443819558
|
|
NM_017617.5(NOTCH1):c.5119G>A (p.Ala1707Thr)
|
|
|
NM_017617.5(NOTCH1):c.5124G>A (p.Ser1708=)
|
rs35980907
|
|
NM_017617.5(NOTCH1):c.5128G>C (p.Gly1710Arg)
|
|
|
NM_017617.5(NOTCH1):c.5137A>G (p.Asn1713Asp)
|
|
|
NM_017617.5(NOTCH1):c.5138A>C (p.Asn1713Thr)
|
rs200053816
|
|
NM_017617.5(NOTCH1):c.513T>C (p.His171=)
|
|
|
NM_017617.5(NOTCH1):c.5140A>G (p.Ile1714Val)
|
rs2133333190
|
|
NM_017617.5(NOTCH1):c.5154C>A (p.Ile1718=)
|
|
|
NM_017617.5(NOTCH1):c.5155G>A (p.Glu1719Lys)
|
rs750085425
|
|
NM_017617.5(NOTCH1):c.5161G>A (p.Val1721Met)
|
|
|
NM_017617.5(NOTCH1):c.5167+18C>A
|
|
|
NM_017617.5(NOTCH1):c.5167+19C>G
|
rs751046078
|
|
NM_017617.5(NOTCH1):c.5167+20G>A
|
|
|
NM_017617.5(NOTCH1):c.5167+3A>G
|
rs1025172473
|
|
NM_017617.5(NOTCH1):c.5168-16G>A
|
rs2133331940
|
|
NM_017617.5(NOTCH1):c.5168-18del
|
|
|
NM_017617.5(NOTCH1):c.5168-20C>T
|
|
|
NM_017617.5(NOTCH1):c.5168-5C>G
|
|
|
NM_017617.5(NOTCH1):c.5168-7C>T
|
rs1589056781
|
|
NM_017617.5(NOTCH1):c.5168-8G>A
|
rs781506247
|
|
NM_017617.5(NOTCH1):c.5168G>A (p.Ser1723Asn)
|
|
|
NM_017617.5(NOTCH1):c.5176G>A (p.Val1726Met)
|
|
|
NM_017617.5(NOTCH1):c.5181G>A (p.Glu1727=)
|
|
|
NM_017617.5(NOTCH1):c.5181G>T (p.Glu1727Asp)
|
rs1843014055
|
|
NM_017617.5(NOTCH1):c.5191C>A (p.Pro1731Thr)
|
|
|
NM_017617.5(NOTCH1):c.5195C>T (p.Ala1732Val)
|
rs768040014
|
|
NM_017617.5(NOTCH1):c.5196G>A (p.Ala1732=)
|
|
|
NM_017617.5(NOTCH1):c.5201T>A (p.Leu1734Gln)
|
rs780546252
|
|
NM_017617.5(NOTCH1):c.5205C>T (p.His1735=)
|
|
|
NM_017617.5(NOTCH1):c.520A>C (p.Thr174Pro)
|
rs771225163
|
|
NM_017617.5(NOTCH1):c.5211G>T (p.Met1737Ile)
|
|
|
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.5227G>A (p.Ala1743Thr)
|
|
|
NM_017617.5(NOTCH1):c.523T>G (p.Cys175Gly)
|
|
|
NM_017617.5(NOTCH1):c.5256C>G (p.Cys1752Trp)
|
|
|
NM_017617.5(NOTCH1):c.5256C>T (p.Cys1752=)
|
|
|
NM_017617.5(NOTCH1):c.525C>T (p.Cys175=)
|
|
|
NM_017617.5(NOTCH1):c.5266C>T (p.Leu1756=)
|
rs746342953
|
|
NM_017617.5(NOTCH1):c.5270C>T (p.Ser1757Phe)
|
rs1843012177
|
|
NM_017617.5(NOTCH1):c.5272C>G (p.Arg1758Gly)
|
rs777859108
|
|
NM_017617.5(NOTCH1):c.5272C>T (p.Arg1758Cys)
|
|
|
NM_017617.5(NOTCH1):c.527_528delinsTT (p.Arg176Leu)
|
rs1564203258
|
|
NM_017617.5(NOTCH1):c.5281C>T (p.Arg1761Trp)
|
|
|
NM_017617.5(NOTCH1):c.5285G>A (p.Arg1762Gln)
|
rs942439472
|
|
NM_017617.5(NOTCH1):c.5296C>A (p.Gln1766Lys)
|
rs1843011278
|
|
NM_017617.5(NOTCH1):c.5297A>G (p.Gln1766Arg)
|
|
|
NM_017617.5(NOTCH1):c.5298G>A (p.Gln1766=)
|
|
|
NM_017617.5(NOTCH1):c.5299C>G (p.Leu1767Val)
|
|
|
NM_017617.5(NOTCH1):c.5307C>T (p.Phe1769=)
|
rs1400804279
|
|
NM_017617.5(NOTCH1):c.5310_5314dup (p.Gly1772fs)
|
|
|
NM_017617.5(NOTCH1):c.5326T>G (p.Ser1776Ala)
|
|
|
NM_017617.5(NOTCH1):c.5332G>C (p.Ala1778Pro)
|
rs986394043
|
|
NM_017617.5(NOTCH1):c.5333C>G (p.Ala1778Gly)
|
rs1422917398
|
|
NM_017617.5(NOTCH1):c.5333C>T (p.Ala1778Val)
|
|
|
NM_017617.5(NOTCH1):c.5342A>G (p.Lys1781Arg)
|
|
|
NM_017617.5(NOTCH1):c.5350C>G (p.Arg1784Gly)
|
rs1843010487
|
|
NM_017617.5(NOTCH1):c.5356C>T (p.Pro1786Ser)
|
rs1843010413
|
|
NM_017617.5(NOTCH1):c.5358C>T (p.Pro1786=)
|
|
|
NM_017617.5(NOTCH1):c.5362G>A (p.Gly1788Ser)
|
rs1843010334
|
|
NM_017617.5(NOTCH1):c.5370C>T (p.Asp1790=)
|
rs2133330858
|
|
NM_017617.5(NOTCH1):c.5384+3G>C
|
rs1843010026
|
|
NM_017617.5(NOTCH1):c.5384+8G>A
|
|
|
NM_017617.5(NOTCH1):c.5385-10C>T
|
rs2133330224
|
|
NM_017617.5(NOTCH1):c.5385-17G>A
|
rs746960421
|
|
NM_017617.5(NOTCH1):c.5385-2dup
|
|
|
NM_017617.5(NOTCH1):c.5385-3C>T
|
|
|
NM_017617.5(NOTCH1):c.5385-7C>T
|
|
|
NM_017617.5(NOTCH1):c.5385-9A>G
|
rs2133330218
|
|
NM_017617.5(NOTCH1):c.5386C>T (p.Pro1796Ser)
|
|
|
NM_017617.5(NOTCH1):c.5388C>T (p.Pro1796=)
|
|
|
NM_017617.5(NOTCH1):c.538A>G (p.Asn180Asp)
|
|
|
NM_017617.5(NOTCH1):c.5394G>A (p.Lys1798=)
|
|
|
NM_017617.5(NOTCH1):c.5402C>G (p.Ser1801Ter)
|
|
|
NM_017617.5(NOTCH1):c.5418G>A (p.Met1806Ile)
|
rs556708225
|
|
NM_017617.5(NOTCH1):c.5423A>G (p.Asp1808Gly)
|
rs1589056398
|
|
NM_017617.5(NOTCH1):c.5427C>T (p.Asn1809=)
|
|
|
NM_017617.5(NOTCH1):c.5434G>A (p.Glu1812Lys)
|
rs1843005451
|
|
NM_017617.5(NOTCH1):c.5438G>C (p.Trp1813Ser)
|
|
|
NM_017617.5(NOTCH1):c.5438G>T (p.Trp1813Leu)
|
rs755659037
|
|
NM_017617.5(NOTCH1):c.5444A>G (p.Asp1815Gly)
|
|
|
NM_017617.5(NOTCH1):c.5446G>A (p.Glu1816Lys)
|
|
|
NM_017617.5(NOTCH1):c.5447A>G (p.Glu1816Gly)
|
rs2133329831
|
|
NM_017617.5(NOTCH1):c.5455G>C (p.Glu1819Gln)
|
rs2133329789
|
|
NM_017617.5(NOTCH1):c.5462A>G (p.Lys1821Arg)
|
|
|
NM_017617.5(NOTCH1):c.5470C>T (p.Arg1824Trp)
|
|
|
NM_017617.5(NOTCH1):c.5471G>T (p.Arg1824Leu)
|
|
|
NM_017617.5(NOTCH1):c.5472+15T>A
|
|
|
NM_017617.5(NOTCH1):c.5472+16C>T
|
|
|
NM_017617.5(NOTCH1):c.5472+18C>A
|
|
|
NM_017617.5(NOTCH1):c.5472+18C>G
|
|
|
NM_017617.5(NOTCH1):c.5472+19G>A
|
|
|
NM_017617.5(NOTCH1):c.5472+19G>C
|
rs755674060
|
|
NM_017617.5(NOTCH1):c.5472+7C>T
|
|
|
NM_017617.5(NOTCH1):c.5472+8G>T
|
|
|
NM_017617.5(NOTCH1):c.5473-12C>T
|
|
|
NM_017617.5(NOTCH1):c.5473-15A>C
|
|
|
NM_017617.5(NOTCH1):c.5475C>T (p.Phe1825=)
|
|
|
NM_017617.5(NOTCH1):c.5476G>A (p.Glu1826Lys)
|
rs374103443
|
|
NM_017617.5(NOTCH1):c.5479G>A (p.Glu1827Lys)
|
|
|
NM_017617.5(NOTCH1):c.547G>C (p.Gly183Arg)
|
rs1843399830
|
|
NM_017617.5(NOTCH1):c.5500C>G (p.Leu1834Val)
|
rs73668312
|
|
NM_017617.5(NOTCH1):c.5502G>C (p.Leu1834=)
|
rs1259279311
|
|
NM_017617.5(NOTCH1):c.5508C>A (p.Asp1836Glu)
|
|
|
NM_017617.5(NOTCH1):c.550C>T (p.Gln184Ter)
|
rs1589072024
|
|
NM_017617.5(NOTCH1):c.5519A>G (p.His1840Arg)
|
|
|
NM_017617.5(NOTCH1):c.5532T>C (p.Thr1844=)
|
|
|
NM_017617.5(NOTCH1):c.5535_5536delinsAA (p.Gln1846Lys)
|
rs878855027
|
|
NM_017617.5(NOTCH1):c.553A>C (p.Lys185Gln)
|
|
|
NM_017617.5(NOTCH1):c.5540A>C (p.His1847Pro)
|
rs1843001736
|
|
NM_017617.5(NOTCH1):c.5557C>T (p.Leu1853=)
|
|
|
NM_017617.5(NOTCH1):c.5559G>A (p.Leu1853=)
|
|
|
NM_017617.5(NOTCH1):c.5561G>A (p.Arg1854His)
|
rs878855028
|
|
NM_017617.5(NOTCH1):c.5563A>C (p.Met1855Leu)
|
|
|
NM_017617.5(NOTCH1):c.5567C>A (p.Ser1856Tyr)
|
|
|
NM_017617.5(NOTCH1):c.556C>T (p.Pro186Ser)
|
|
|
NM_017617.5(NOTCH1):c.5570C>G (p.Ala1857Gly)
|
rs1370862526
|
|
NM_017617.5(NOTCH1):c.5571C>T (p.Ala1857=)
|
|
|
NM_017617.5(NOTCH1):c.557C>T (p.Pro186Leu)
|
rs2133377659
|
|
NM_017617.5(NOTCH1):c.5591A>G (p.Gln1864Arg)
|
|
|
NM_017617.5(NOTCH1):c.5594G>A (p.Gly1865Asp)
|
rs2133328665
|
|
NM_017617.5(NOTCH1):c.5599G>T (p.Val1867Phe)
|
|
|
NM_017617.5(NOTCH1):c.5603A>T (p.Asp1868Val)
|
|
|
NM_017617.5(NOTCH1):c.5605G>A (p.Ala1869Thr)
|
rs200603539
|
|
NM_017617.5(NOTCH1):c.5605G>T (p.Ala1869Ser)
|
rs200603539
|
|
NM_017617.5(NOTCH1):c.5607C>T (p.Ala1869=)
|
|
|
NM_017617.5(NOTCH1):c.5612G>T (p.Cys1871Phe)
|
|
|
NM_017617.5(NOTCH1):c.5620G>A (p.Val1874Ile)
|
|
|
NM_017617.5(NOTCH1):c.5630G>A (p.Arg1877His)
|
|
|
NM_017617.5(NOTCH1):c.5638+19A>C
|
|
|
NM_017617.5(NOTCH1):c.5639-10G>C
|
rs1842984290
|
|
NM_017617.5(NOTCH1):c.5639-14C>T
|
|
|
NM_017617.5(NOTCH1):c.5639-16G>A
|
|
|
NM_017617.5(NOTCH1):c.5639-19C>A
|
|
|
NM_017617.5(NOTCH1):c.5639-7T>C
|
rs1842984230
|
|
NM_017617.5(NOTCH1):c.5651C>T (p.Pro1884Leu)
|
rs545259523
|
|
NM_017617.5(NOTCH1):c.5661C>T (p.Ile1887=)
|
rs750185397
|
|
NM_017617.5(NOTCH1):c.5671A>G (p.Ser1891Gly)
|
rs2133326726
|
|
NM_017617.5(NOTCH1):c.5678G>T (p.Gly1893Val)
|
rs1292487339
|
|
NM_017617.5(NOTCH1):c.5680G>A (p.Gly1894Ser)
|
|
|
NM_017617.5(NOTCH1):c.5685G>A (p.Leu1895=)
|
rs1060504521
|
|
NM_017617.5(NOTCH1):c.5691G>A (p.Thr1897=)
|
rs373612059
|
|
NM_017617.5(NOTCH1):c.5697C>A (p.Asn1899Lys)
|
rs747229390
|
|
NM_017617.5(NOTCH1):c.5698A>G (p.Ser1900Gly)
|
rs200190466
|
|
NM_017617.5(NOTCH1):c.569G>A (p.Arg190His)
|
rs761616770
|
|
NM_017617.5(NOTCH1):c.5712G>T (p.Glu1904Asp)
|
|
|
NM_017617.5(NOTCH1):c.5717C>T (p.Ala1906Val)
|
|
|
NM_017617.5(NOTCH1):c.5731T>C (p.Ser1911Pro)
|
rs2133326413
|
|
NM_017617.5(NOTCH1):c.5733C>A (p.Ser1911=)
|
|
|
NM_017617.5(NOTCH1):c.5739C>T (p.Phe1913=)
|
|
|
NM_017617.5(NOTCH1):c.5742C>T (p.Ile1914=)
|
|
|
NM_017617.5(NOTCH1):c.5751C>A (p.Gly1917=)
|
rs752199771
|
|
NM_017617.5(NOTCH1):c.5751C>T (p.Gly1917=)
|
|
|
NM_017617.5(NOTCH1):c.5763C>G (p.His1921Gln)
|
|
|
NM_017617.5(NOTCH1):c.5766C>A (p.Asn1922Lys)
|
|
|
NM_017617.5(NOTCH1):c.5768A>G (p.Gln1923Arg)
|
rs1842981791
|
|
NM_017617.5(NOTCH1):c.5772A>C (p.Thr1924=)
|
|
|
NM_017617.5(NOTCH1):c.5777G>T (p.Arg1926Leu)
|
rs771407924
|
|
NM_017617.5(NOTCH1):c.5780C>T (p.Thr1927Met)
|
rs1554826860
|
|
NM_017617.5(NOTCH1):c.578G>T (p.Gly193Val)
|
rs774966208
|
|
NM_017617.5(NOTCH1):c.5795T>C (p.Leu1932Ser)
|
rs1842981231
|
|
NM_017617.5(NOTCH1):c.5806G>T (p.Ala1936Ser)
|
|
|
NM_017617.5(NOTCH1):c.580A>C (p.Thr194Pro)
|
rs770333242
|
|
NM_017617.5(NOTCH1):c.5814C>T (p.Tyr1938=)
|
|
|
NM_017617.5(NOTCH1):c.5819G>A (p.Arg1940His)
|
rs897872809
|
|
NM_017617.5(NOTCH1):c.5820C>T (p.Arg1940=)
|
|
|
NM_017617.5(NOTCH1):c.5829C>A (p.Ala1943=)
|
rs1036442909
|
|
NM_017617.5(NOTCH1):c.5836C>G (p.Arg1946Gly)
|
|
|
NM_017617.5(NOTCH1):c.5888C>A (p.Thr1963Asn)
|
|
|
NM_017617.5(NOTCH1):c.5899G>A (p.Ala1967Thr)
|
|
|
NM_017617.5(NOTCH1):c.5905G>A (p.Val1969Met)
|
rs1842979490
|
|
NM_017617.5(NOTCH1):c.5906dup (p.Ser1970fs)
|
|
|
NM_017617.5(NOTCH1):c.5907G>A (p.Val1969=)
|
|
|
NM_017617.5(NOTCH1):c.5919A>G (p.Ala1973=)
|
rs781224907
|
|
NM_017617.5(NOTCH1):c.5920C>A (p.Gln1974Lys)
|
|
|
NM_017617.5(NOTCH1):c.5922A>G (p.Gln1974=)
|
rs770803201
|
|
NM_017617.5(NOTCH1):c.592G>A (p.Glu198Lys)
|
|
|
NM_017617.5(NOTCH1):c.5934+10G>A
|
|
|
NM_017617.5(NOTCH1):c.5934+12C>G
|
|
|
NM_017617.5(NOTCH1):c.5934+20G>A
|
|
|
NM_017617.5(NOTCH1):c.5934+6C>T
|
|
|
NM_017617.5(NOTCH1):c.607C>T (p.Arg203Cys)
|
|
|
NM_017617.5(NOTCH1):c.608G>A (p.Arg203His)
|
rs182763411
|
|
NM_017617.5(NOTCH1):c.61+17C>T
|
|
|
NM_017617.5(NOTCH1):c.61+18C>A
|
|
|
NM_017617.5(NOTCH1):c.61+19G>A
|
rs957002412
|
|
NM_017617.5(NOTCH1):c.613G>C (p.Val205Leu)
|
|
|
NM_017617.5(NOTCH1):c.6181-12C>G
|
|
|
NM_017617.5(NOTCH1):c.6181-16C>T
|
|
|
NM_017617.5(NOTCH1):c.6181-5C>G
|
|
|
NM_017617.5(NOTCH1):c.6181-7C>G
|
|
|
NM_017617.5(NOTCH1):c.6192C>T (p.Pro2064=)
|
|
|
NM_017617.5(NOTCH1):c.6197T>G (p.Phe2066Cys)
|
|
|
NM_017617.5(NOTCH1):c.6198T>C (p.Phe2066=)
|
|
|
NM_017617.5(NOTCH1):c.619C>T (p.Arg207Cys)
|
|
|
NM_017617.5(NOTCH1):c.62-14C>T
|
rs1426366565
|
|
NM_017617.5(NOTCH1):c.62-15_62-13del
|
|
|
NM_017617.5(NOTCH1):c.62-16T>G
|
rs1164452688
|
|
NM_017617.5(NOTCH1):c.62-17C>G
|
|
|
NM_017617.5(NOTCH1):c.62-3T>C
|
rs2133406300
|
|
NM_017617.5(NOTCH1):c.62-4C>T
|
|
|
NM_017617.5(NOTCH1):c.62-5C>A
|
|
|
NM_017617.5(NOTCH1):c.620G>A (p.Arg207His)
|
rs779118023
|
|
NM_017617.5(NOTCH1):c.6219C>G (p.Ser2073Arg)
|
|
|
NM_017617.5(NOTCH1):c.6232A>G (p.Lys2078Glu)
|
rs1186927156
|
|
NM_017617.5(NOTCH1):c.6234G>A (p.Lys2078=)
|
rs1485488069
|
|
NM_017617.5(NOTCH1):c.6252T>C (p.Phe2084=)
|
|
|
NM_017617.5(NOTCH1):c.6254C>G (p.Ala2085Gly)
|
rs1215496202
|
|
NM_017617.5(NOTCH1):c.6254C>T (p.Ala2085Val)
|
|
|
NM_017617.5(NOTCH1):c.6256A>T (p.Asn2086Tyr)
|
|
|
NM_017617.5(NOTCH1):c.6269C>T (p.Thr2090Met)
|
rs1215473021
|
|
NM_017617.5(NOTCH1):c.6275A>C (p.His2092Pro)
|
rs1554826539
|
|
NM_017617.5(NOTCH1):c.6284G>T (p.Arg2095Leu)
|
rs756874994
|
|
NM_017617.5(NOTCH1):c.6291G>T (p.Pro2097=)
|
rs201987555
|
|
NM_017617.5(NOTCH1):c.6292C>T (p.Arg2098Cys)
|
|
|
NM_017617.5(NOTCH1):c.6298A>G (p.Ile2100Val)
|
|
|
NM_017617.5(NOTCH1):c.6300C>T (p.Ile2100=)
|
rs773483690
|
|
NM_017617.5(NOTCH1):c.6310C>T (p.Arg2104Cys)
|
rs1307220376
|
|
NM_017617.5(NOTCH1):c.6311G>A (p.Arg2104His)
|
rs1842934984
|
|
NM_017617.5(NOTCH1):c.6342C>G (p.Asp2114Glu)
|
rs746682300
|
|
NM_017617.5(NOTCH1):c.6349A>T (p.Asn2117Tyr)
|
|
|
NM_017617.5(NOTCH1):c.6362G>A (p.Ser2121Asn)
|
rs761054017
|
|
NM_017617.5(NOTCH1):c.6363C>G (p.Ser2121Arg)
|
|
|
NM_017617.5(NOTCH1):c.6365C>G (p.Pro2122Arg)
|
|
|
NM_017617.5(NOTCH1):c.6368A>G (p.Gln2123Arg)
|
|
|
NM_017617.5(NOTCH1):c.636C>T (p.Gly212=)
|
rs1843397551
|
|
NM_017617.5(NOTCH1):c.6373C>T (p.His2125Tyr)
|
rs2133318919
|
|
NM_017617.5(NOTCH1):c.6375C>G (p.His2125Gln)
|
rs369009290
|
|
NM_017617.5(NOTCH1):c.6375C>T (p.His2125=)
|
rs369009290
|
|
NM_017617.5(NOTCH1):c.637C>T (p.Pro213Ser)
|
|
|
NM_017617.5(NOTCH1):c.6387G>T (p.Leu2129=)
|
|
|
NM_017617.5(NOTCH1):c.6392del (p.Gly2131fs)
|
|
|
NM_017617.5(NOTCH1):c.6393C>T (p.Gly2131=)
|
rs1390112624
|
|
NM_017617.5(NOTCH1):c.6396G>A (p.Thr2132=)
|
rs554843595
|
|
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.6402C>T (p.Thr2134=)
|
rs2133318771
|
|
NM_017617.5(NOTCH1):c.6403C>T (p.Leu2135=)
|
|
|
NM_017617.5(NOTCH1):c.6413dup (p.Leu2139fs)
|
rs1842932983
|
|
NM_017617.5(NOTCH1):c.6423G>A (p.Ser2141=)
|
|
|
NM_017617.5(NOTCH1):c.6423G>T (p.Ser2141=)
|
|
|
NM_017617.5(NOTCH1):c.6424C>T (p.Pro2142Ser)
|
|
|
NM_017617.5(NOTCH1):c.6428A>G (p.Asn2143Ser)
|
rs1085307778
|
|
NM_017617.5(NOTCH1):c.6430G>A (p.Gly2144Ser)
|
|
|
NM_017617.5(NOTCH1):c.6450G>T (p.Lys2150Asn)
|
|
|
NM_017617.5(NOTCH1):c.6451C>T (p.Pro2151Ser)
|
rs1842932370
|
|
NM_017617.5(NOTCH1):c.6454G>A (p.Gly2152Ser)
|
rs116317506
|
|
NM_017617.5(NOTCH1):c.6454G>C (p.Gly2152Arg)
|
rs116317506
|
|
NM_017617.5(NOTCH1):c.6463G>A (p.Gly2155Ser)
|
rs1035043614
|
|
NM_017617.5(NOTCH1):c.6466A>G (p.Lys2156Glu)
|
|
|
NM_017617.5(NOTCH1):c.646G>A (p.Glu216Lys)
|
|
|
NM_017617.5(NOTCH1):c.6470A>C (p.Lys2157Thr)
|
rs1564568574
|
|
NM_017617.5(NOTCH1):c.6480G>A (p.Lys2160=)
|
|
|
NM_017617.5(NOTCH1):c.6489C>G (p.Ser2163Arg)
|
|
|
NM_017617.5(NOTCH1):c.6495C>T (p.Gly2165=)
|
|
|
NM_017617.5(NOTCH1):c.6496C>T (p.Leu2166=)
|
rs2133318278
|
|
NM_017617.5(NOTCH1):c.6500C>A (p.Ala2167Asp)
|
|
|
NM_017617.5(NOTCH1):c.6503G>C (p.Cys2168Ser)
|
|
|
NM_017617.5(NOTCH1):c.6512A>G (p.Lys2171Arg)
|
|
|
NM_017617.5(NOTCH1):c.6517G>A (p.Ala2173Thr)
|
rs1060502234
|
|
NM_017617.5(NOTCH1):c.651G>A (p.Arg217=)
|
|
|
NM_017617.5(NOTCH1):c.6532G>A (p.Ala2178Thr)
|
rs1197184303
|
|
NM_017617.5(NOTCH1):c.6535C>T (p.Arg2179Trp)
|
|
|
NM_017617.5(NOTCH1):c.6536G>A (p.Arg2179Gln)
|
rs587778571
|
|
NM_017617.5(NOTCH1):c.6551A>G (p.Gln2184Arg)
|
rs2133318027
|
|
NM_017617.5(NOTCH1):c.6552G>T (p.Gln2184His)
|
|
|
NM_017617.5(NOTCH1):c.6556G>A (p.Gly2186Ser)
|
|
|
NM_017617.5(NOTCH1):c.6557G>T (p.Gly2186Val)
|
|
|
NM_017617.5(NOTCH1):c.6563G>T (p.Gly2188Val)
|
|
|
NM_017617.5(NOTCH1):c.6567C>T (p.Cys2189=)
|
|
|
NM_017617.5(NOTCH1):c.6570G>C (p.Leu2190=)
|
rs200630233
|
|
NM_017617.5(NOTCH1):c.657C>T (p.Tyr219=)
|
rs772778125
|
|
NM_017617.5(NOTCH1):c.6585C>T (p.Gly2195=)
|
rs1842929880
|
|
NM_017617.5(NOTCH1):c.658G>A (p.Val220Met)
|
rs754236791
|
|
NM_017617.5(NOTCH1):c.6593C>G (p.Ser2198Trp)
|
|
|
NM_017617.5(NOTCH1):c.6594G>T (p.Ser2198=)
|
rs774256366
|
|
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.6598G>A (p.Val2200Met)
|
|
|
NM_017617.5(NOTCH1):c.65C>G (p.Pro22Arg)
|
|
|
NM_017617.5(NOTCH1):c.6612G>A (p.Glu2204=)
|
|
|
NM_017617.5(NOTCH1):c.6620A>G (p.His2207Arg)
|
|
|
NM_017617.5(NOTCH1):c.6630G>A (p.Leu2210=)
|
rs1589053186
|
|
NM_017617.5(NOTCH1):c.6639G>A (p.Val2213=)
|
|
|
NM_017617.5(NOTCH1):c.6647C>G (p.Pro2216Arg)
|
|
|
NM_017617.5(NOTCH1):c.6647C>T (p.Pro2216Leu)
|
|
|
NM_017617.5(NOTCH1):c.6651A>C (p.Pro2217=)
|
|
|
NM_017617.5(NOTCH1):c.6666G>A (p.Pro2222=)
|
rs202229687
|
|
NM_017617.5(NOTCH1):c.6666G>C (p.Pro2222=)
|
rs202229687
|
|
NM_017617.5(NOTCH1):c.6668T>C (p.Phe2223Ser)
|
rs1842928462
|
|
NM_017617.5(NOTCH1):c.6681G>A (p.Pro2227=)
|
|
|
NM_017617.5(NOTCH1):c.6684C>T (p.Ser2228=)
|
|
|
NM_017617.5(NOTCH1):c.669C>T (p.Ser223=)
|
rs1589071892
|
|
NM_017617.5(NOTCH1):c.66G>C (p.Pro22=)
|
|
|
NM_017617.5(NOTCH1):c.6700C>T (p.Leu2234=)
|
|
|
NM_017617.5(NOTCH1):c.6706G>A (p.Gly2236Arg)
|
|
|
NM_017617.5(NOTCH1):c.670C>G (p.Pro224Ala)
|
|
|
NM_017617.5(NOTCH1):c.6712C>T (p.Pro2238Ser)
|
|
|
NM_017617.5(NOTCH1):c.6715G>A (p.Asp2239Asn)
|
|
|
NM_017617.5(NOTCH1):c.6724C>G (p.Leu2242Val)
|
|
|
NM_017617.5(NOTCH1):c.6724C>T (p.Leu2242=)
|
rs1589053091
|
|
NM_017617.5(NOTCH1):c.672C>T (p.Pro224=)
|
rs777019253
|
|
NM_017617.5(NOTCH1):c.6732C>A (p.Ile2244=)
|
|
|
NM_017617.5(NOTCH1):c.6735G>A (p.Gly2245=)
|
|
|
NM_017617.5(NOTCH1):c.6738C>G (p.His2246Gln)
|
rs1842927243
|
|
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.6740T>C (p.Leu2247Pro)
|
|
|
NM_017617.5(NOTCH1):c.6744C>G (p.Asn2248Lys)
|
rs372771288
|
|
NM_017617.5(NOTCH1):c.6747G>A (p.Val2249=)
|
rs751544476
|
|
NM_017617.5(NOTCH1):c.6748G>A (p.Ala2250Thr)
|
rs1436539393
|
|
NM_017617.5(NOTCH1):c.6753C>G (p.Ala2251=)
|
rs542875894
|
|
NM_017617.5(NOTCH1):c.6759C>G (p.Pro2253=)
|
rs770738954
|
|
NM_017617.5(NOTCH1):c.6767C>T (p.Ala2256Val)
|
rs759225800
|
|
NM_017617.5(NOTCH1):c.6771G>A (p.Ala2257=)
|
|
|
NM_017617.5(NOTCH1):c.6771G>C (p.Ala2257=)
|
|
|
NM_017617.5(NOTCH1):c.6773T>C (p.Leu2258Pro)
|
|
|
NM_017617.5(NOTCH1):c.6776G>T (p.Gly2259Val)
|
|
|
NM_017617.5(NOTCH1):c.677C>T (p.Pro226Leu)
|
rs1843395886
|
|
NM_017617.5(NOTCH1):c.6791T>A (p.Leu2264Gln)
|
rs2133317177
|
|
NM_017617.5(NOTCH1):c.6793G>C (p.Ala2265Pro)
|
|
|
NM_017617.5(NOTCH1):c.6810_6812del (p.Pro2271del)
|
|
|
NM_017617.5(NOTCH1):c.6819C>T (p.Leu2273=)
|
rs778759745
|
|
NM_017617.5(NOTCH1):c.6851C>T (p.Thr2284Ile)
|
rs1341934554
|
|
NM_017617.5(NOTCH1):c.6852C>A (p.Thr2284=)
|
|
|
NM_017617.5(NOTCH1):c.6857T>A (p.Leu2286Gln)
|
|
|
NM_017617.5(NOTCH1):c.6864C>T (p.Ser2288=)
|
|
|
NM_017617.5(NOTCH1):c.6869G>A (p.Ser2290Asn)
|
rs763183789
|
|
NM_017617.5(NOTCH1):c.6869G>T (p.Ser2290Ile)
|
rs763183789
|
|
NM_017617.5(NOTCH1):c.6879C>T (p.Ala2293=)
|
rs1015422139
|
|
NM_017617.5(NOTCH1):c.6880C>G (p.Leu2294Val)
|
|
|
NM_017617.5(NOTCH1):c.6880C>T (p.Leu2294=)
|
|
|
NM_017617.5(NOTCH1):c.6884A>G (p.Asn2295Ser)
|
|
|
NM_017617.5(NOTCH1):c.6894G>A (p.Val2298=)
|
|
|
NM_017617.5(NOTCH1):c.6903C>T (p.Ser2301=)
|
rs1842923327
|
|
NM_017617.5(NOTCH1):c.6905C>T (p.Thr2302Ile)
|
|
|
NM_017617.5(NOTCH1):c.6913_6916del (p.Asn2305fs)
|
|
|
NM_017617.5(NOTCH1):c.691G>A (p.Gly231Ser)
|
rs1247729687
|
|
NM_017617.5(NOTCH1):c.6923G>T (p.Cys2308Phe)
|
|
|
NM_017617.5(NOTCH1):c.6924C>G (p.Cys2308Trp)
|
rs756653663
|
|
NM_017617.5(NOTCH1):c.6924C>T (p.Cys2308=)
|
rs756653663
|
|
NM_017617.5(NOTCH1):c.6925G>A (p.Glu2309Lys)
|
|
|
NM_017617.5(NOTCH1):c.6936C>T (p.Ser2312=)
|
rs1190107678
|
|
NM_017617.5(NOTCH1):c.6944A>C (p.Gln2315Pro)
|
|
|
NM_017617.5(NOTCH1):c.6947G>A (p.Ser2316Asn)
|
|
|
NM_017617.5(NOTCH1):c.6950G>C (p.Gly2317Ala)
|
|
|
NM_017617.5(NOTCH1):c.6966A>G (p.Gln2322=)
|
rs1318983291
|
|
NM_017617.5(NOTCH1):c.6980G>C (p.Arg2327Pro)
|
|
|
NM_017617.5(NOTCH1):c.6983G>T (p.Gly2328Val)
|
|
|
NM_017617.5(NOTCH1):c.6986G>C (p.Ser2329Thr)
|
|
|
NM_017617.5(NOTCH1):c.6993A>G (p.Ala2331=)
|
rs1554826428
|
|
NM_017617.5(NOTCH1):c.6996A>G (p.Pro2332=)
|
rs2133316587
|
|
NM_017617.5(NOTCH1):c.7000C>T (p.Pro2334Ser)
|
|
|
NM_017617.5(NOTCH1):c.7001C>G (p.Pro2334Arg)
|
|
|
NM_017617.5(NOTCH1):c.700C>T (p.Arg234Cys)
|
rs567890045
|
|
NM_017617.5(NOTCH1):c.7010C>T (p.Thr2337Ile)
|
|
|
NM_017617.5(NOTCH1):c.7011A>C (p.Thr2337=)
|
|
|
NM_017617.5(NOTCH1):c.7028A>T (p.Gln2343Leu)
|
|
|
NM_017617.5(NOTCH1):c.7029G>C (p.Gln2343His)
|
|
|
NM_017617.5(NOTCH1):c.7036A>G (p.Met2346Val)
|
|
|
NM_017617.5(NOTCH1):c.7039_7047del (p.Val2347_Pro2349del)
|
|
|
NM_017617.5(NOTCH1):c.7042G>A (p.Gly2348Ser)
|
|
|
NM_017617.5(NOTCH1):c.7045C>G (p.Pro2349Ala)
|
rs1390427898
|
|
NM_017617.5(NOTCH1):c.705C>T (p.Pro235=)
|
rs905803751
|
|
NM_017617.5(NOTCH1):c.7065T>C (p.Ala2355=)
|
|
|
NM_017617.5(NOTCH1):c.7069A>T (p.Ser2357Cys)
|
|
|
NM_017617.5(NOTCH1):c.7071C>T (p.Ser2357=)
|
rs61751487
|
|
NM_017617.5(NOTCH1):c.7072G>A (p.Ala2358Thr)
|
rs780869345
|
|
NM_017617.5(NOTCH1):c.7080C>T (p.Ser2360=)
|
|
|
NM_017617.5(NOTCH1):c.7098G>A (p.Gln2366=)
|
|
|
NM_017617.5(NOTCH1):c.7110C>A (p.Ser2370Arg)
|
|
|
NM_017617.5(NOTCH1):c.7119G>A (p.Leu2373=)
|
|
|
NM_017617.5(NOTCH1):c.7120G>T (p.Ala2374Ser)
|
|
|
NM_017617.5(NOTCH1):c.7121C>T (p.Ala2374Val)
|
rs2133316248
|
|
NM_017617.5(NOTCH1):c.7126C>A (p.Gln2376Lys)
|
rs767497870
|
|
NM_017617.5(NOTCH1):c.7135C>T (p.Leu2379=)
|
|
|
NM_017617.5(NOTCH1):c.7138G>C (p.Val2380Leu)
|
rs769693988
|
|
NM_017617.5(NOTCH1):c.7145C>T (p.Thr2382Ile)
|
rs1564567924
|
|
NM_017617.5(NOTCH1):c.7147C>T (p.Gln2383Ter)
|
rs759362012
|
|
NM_017617.5(NOTCH1):c.715G>A (p.Val239Ile)
|
|
|
NM_017617.5(NOTCH1):c.7175T>A (p.Met2392Lys)
|
rs1036612594
|
|
NM_017617.5(NOTCH1):c.7175T>C (p.Met2392Thr)
|
rs1036612594
|
|
NM_017617.5(NOTCH1):c.7177C>G (p.Gln2393Glu)
|
|
|
NM_017617.5(NOTCH1):c.7178A>G (p.Gln2393Arg)
|
rs1842918022
|
|
NM_017617.5(NOTCH1):c.7193A>G (p.Gln2398Arg)
|
rs1564567879
|
|
NM_017617.5(NOTCH1):c.7198G>A (p.Ala2400Thr)
|
rs1842917839
|
|
NM_017617.5(NOTCH1):c.7209G>C (p.Gln2403His)
|
rs61751486
|
|
NM_017617.5(NOTCH1):c.721C>T (p.His241Tyr)
|
|
|
NM_017617.5(NOTCH1):c.7222C>G (p.Leu2408Val)
|
|
|
NM_017617.5(NOTCH1):c.7230G>A (p.Pro2410=)
|
rs199839390
|
|
NM_017617.5(NOTCH1):c.7230G>T (p.Pro2410=)
|
rs199839390
|
|
NM_017617.5(NOTCH1):c.7232CAC[4] (p.Pro2415del)
|
rs762336270
|
|
NM_017617.5(NOTCH1):c.7232CAC[6] (p.Pro2415dup)
|
rs762336270
|
|
NM_017617.5(NOTCH1):c.7232CAC[7] (p.Pro2414_Pro2415dup)
|
rs762336270
|
|
NM_017617.5(NOTCH1):c.7235C>G (p.Pro2412Arg)
|
rs1842916921
|
|
NM_017617.5(NOTCH1):c.7241C>T (p.Pro2414Leu)
|
|
|
NM_017617.5(NOTCH1):c.7251G>T (p.Pro2417=)
|
rs368498380
|
|
NM_017617.5(NOTCH1):c.7261G>T (p.Val2421Leu)
|
|
|
NM_017617.5(NOTCH1):c.726G>A (p.Glu242=)
|
rs1843394434
|
|
NM_017617.5(NOTCH1):c.7279G>C (p.Gly2427Arg)
|
|
|
NM_017617.5(NOTCH1):c.7311G>T (p.Glu2437Asp)
|
rs886039031
|
|
NM_017617.5(NOTCH1):c.7312C>T (p.Pro2438Ser)
|
|
|
NM_017617.5(NOTCH1):c.7314G>A (p.Pro2438=)
|
|
|
NM_017617.5(NOTCH1):c.7326C>T (p.Asp2442=)
|
|
|
NM_017617.5(NOTCH1):c.7327G>T (p.Val2443Leu)
|
rs768311067
|
|
NM_017617.5(NOTCH1):c.7355C>T (p.Ala2452Val)
|
|
|
NM_017617.5(NOTCH1):c.736C>T (p.Leu246=)
|
|
|
NM_017617.5(NOTCH1):c.7377G>A (p.Gln2459=)
|
|
|
NM_017617.5(NOTCH1):c.7382G>T (p.Ser2461Ile)
|
rs750245108
|
|
NM_017617.5(NOTCH1):c.7389C>T (p.Ala2463=)
|
|
|
NM_017617.5(NOTCH1):c.7402C>A (p.Leu2468Met)
|
rs2133315021
|
|
NM_017617.5(NOTCH1):c.7405C>T (p.Pro2469Ser)
|
|
|
NM_017617.5(NOTCH1):c.7407A>G (p.Pro2469=)
|
|
|
NM_017617.5(NOTCH1):c.7416G>T (p.Leu2472=)
|
|
|
NM_017617.5(NOTCH1):c.7417del (p.Val2473fs)
|
rs2133314943
|
|
NM_017617.5(NOTCH1):c.742+12C>A
|
|
|
NM_017617.5(NOTCH1):c.742+12_742+19del
|
|
|
NM_017617.5(NOTCH1):c.742+13G>A
|
|
|
NM_017617.5(NOTCH1):c.742+15T>C
|
|
|
NM_017617.5(NOTCH1):c.7426G>A (p.Val2476Met)
|
rs763785541
|
|
NM_017617.5(NOTCH1):c.743-1G>T
|
rs587777735
|
|
NM_017617.5(NOTCH1):c.7455C>G (p.Pro2485=)
|
|
|
NM_017617.5(NOTCH1):c.7461G>A (p.Gln2487=)
|
rs1248949192
|
|
NM_017617.5(NOTCH1):c.7463A>G (p.His2488Arg)
|
|
|
NM_017617.5(NOTCH1):c.7475C>T (p.Ser2492Leu)
|
|
|
NM_017617.5(NOTCH1):c.747C>T (p.Phe249=)
|
rs2133372901
|
|
NM_017617.5(NOTCH1):c.7482G>A (p.Val2494=)
|
rs1268405497
|
|
NM_017617.5(NOTCH1):c.748A>T (p.Thr250Ser)
|
rs551150550
|
|
NM_017617.5(NOTCH1):c.7506A>G (p.Leu2502=)
|
|
|
NM_017617.5(NOTCH1):c.7507C>T (p.Gln2503Ter)
|
|
|
NM_017617.5(NOTCH1):c.750C>A (p.Thr250=)
|
rs375772590
|
|
NM_017617.5(NOTCH1):c.750C>T (p.Thr250=)
|
rs375772590
|
|
NM_017617.5(NOTCH1):c.7510G>A (p.Val2504Met)
|
rs2133314443
|
|
NM_017617.5(NOTCH1):c.7529T>C (p.Leu2510Pro)
|
rs1554826340
|
|
NM_017617.5(NOTCH1):c.752G>T (p.Gly251Val)
|
rs749943647
|
|
NM_017617.5(NOTCH1):c.7532C>A (p.Thr2511Asn)
|
|
|
NM_017617.5(NOTCH1):c.753C>T (p.Gly251=)
|
|
|
NM_017617.5(NOTCH1):c.7549C>T (p.Pro2517Ser)
|
|
|
NM_017617.5(NOTCH1):c.7569G>C (p.Ser2523=)
|
rs534623042
|
|
NM_017617.5(NOTCH1):c.7575G>A (p.Pro2525=)
|
rs375576856
|
|
NM_017617.5(NOTCH1):c.7575G>C (p.Pro2525=)
|
rs375576856
|
|
NM_017617.5(NOTCH1):c.7599C>T (p.Ser2533=)
|
|
|
NM_017617.5(NOTCH1):c.760T>C (p.Cys254Arg)
|
|
|
NM_017617.5(NOTCH1):c.7614C>T (p.Ser2538=)
|
|
|
NM_017617.5(NOTCH1):c.7622C>T (p.Thr2541Ile)
|
|
|
NM_017617.5(NOTCH1):c.763_773del (p.Glu255fs)
|
rs2133372831
|
|
NM_017617.5(NOTCH1):c.7641C>A (p.Ile2547=)
|
rs370124241
|
|
NM_017617.5(NOTCH1):c.7646G>A (p.Arg2549His)
|
|
|
NM_017617.5(NOTCH1):c.7652C>T (p.Pro2551Leu)
|
|
|
NM_017617.5(NOTCH1):c.7657G>A (p.Ala2553Thr)
|
rs182522714
|
|
NM_017617.5(NOTCH1):c.7658C>T (p.Ala2553Val)
|
rs2133313653
|
|
NM_017617.5(NOTCH1):c.769A>G (p.Asn257Asp)
|
|
|
NM_017617.5(NOTCH1):c.774C>T (p.Ile258=)
|
rs764542894
|
|
NM_017617.5(NOTCH1):c.781T>C (p.Cys261Arg)
|
rs2133372814
|
|
NM_017617.5(NOTCH1):c.788G>A (p.Gly263Glu)
|
|
|
NM_017617.5(NOTCH1):c.788G>T (p.Gly263Val)
|
|
|
NM_017617.5(NOTCH1):c.792C>T (p.Asn264=)
|
rs776687224
|
|
NM_017617.5(NOTCH1):c.794_797delinsCC (p.Asn265fs)
|
rs1554730184
|
|
NM_017617.5(NOTCH1):c.804C>A (p.Asn268Lys)
|
|
|
NM_017617.5(NOTCH1):c.804C>T (p.Asn268=)
|
rs774222164
|
|
NM_017617.5(NOTCH1):c.81C>T (p.Pro27=)
|
|
|
NM_017617.5(NOTCH1):c.824G>C (p.Gly275Ala)
|
|
|
NM_017617.5(NOTCH1):c.829A>G (p.Asn277Asp)
|
|
|
NM_017617.5(NOTCH1):c.830A>G (p.Asn277Ser)
|
|
|
NM_017617.5(NOTCH1):c.844C>T (p.Arg282Cys)
|
|
|
NM_017617.5(NOTCH1):c.855A>G (p.Pro285=)
|
|
|
NM_017617.5(NOTCH1):c.865+11G>A
|
|
|
NM_017617.5(NOTCH1):c.865+18C>A
|
|
|
NM_017617.5(NOTCH1):c.865+2C>T
|
rs1164392989
|
|
NM_017617.5(NOTCH1):c.865+4C>T
|
rs527248111
|
|
NM_017617.5(NOTCH1):c.865+8T>C
|
|
|
NM_017617.5(NOTCH1):c.866-16C>G
|
|
|
NM_017617.5(NOTCH1):c.866-9T>C
|
rs2133371738
|
|
NM_017617.5(NOTCH1):c.866G>C (p.Gly289Ala)
|
|
|
NM_017617.5(NOTCH1):c.880G>A (p.Glu294Lys)
|
|
|
NM_017617.5(NOTCH1):c.891C>T (p.Asp297=)
|
|
|
NM_017617.5(NOTCH1):c.892G>C (p.Glu298Gln)
|
rs1060502232
|
|
NM_017617.5(NOTCH1):c.900G>C (p.Gln300His)
|
|
|
NM_017617.5(NOTCH1):c.901C>T (p.Leu301=)
|
rs1564200379
|
|
NM_017617.5(NOTCH1):c.902T>C (p.Leu301Pro)
|
|
|
NM_017617.5(NOTCH1):c.912T>C (p.Asn304=)
|
rs1060504522
|
|
NM_017617.5(NOTCH1):c.924C>G (p.Asn308Lys)
|
|
|
NM_017617.5(NOTCH1):c.931A>C (p.Thr311Pro)
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rs202145498
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NM_017617.5(NOTCH1):c.961T>C (p.Cys321Arg)
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rs1843318767
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NM_017617.5(NOTCH1):c.98A>G (p.Asn33Ser)
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rs2133406228
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NM_017617.5(NOTCH1):c.997A>C (p.Ser333Arg)
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rs895972070
|
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Single allele
|
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