ClinVar Miner

List of variants in gene NOTCH1 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 487
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HGVS dbSNP
NC_000009.12:g.136502974G>A
NC_000009.12:g.136508789dup
NC_000009.12:g.136515849_136515856del
NM_017617.3(NOTCH1):c.5019-13_5019-10delATTG rs374419074
NM_017617.4(NOTCH1):c.140+20delG rs751297042
NM_017617.5(NOTCH1):c.*6G>A rs73668310
NM_017617.5(NOTCH1):c.-152T>C
NM_017617.5(NOTCH1):c.-6G>T
NM_017617.5(NOTCH1):c.1038C>T (p.His346=) rs376951155
NM_017617.5(NOTCH1):c.1041C>T (p.Gly347=)
NM_017617.5(NOTCH1):c.1093C>T (p.Arg365Cys) rs1064795070
NM_017617.5(NOTCH1):c.1099+9C>T rs1057523772
NM_017617.5(NOTCH1):c.1100-140G>A
NM_017617.5(NOTCH1):c.1100-141C>G
NM_017617.5(NOTCH1):c.1100-14C>T rs562148507
NM_017617.5(NOTCH1):c.1100-16G>C rs146815871
NM_017617.5(NOTCH1):c.1100-85T>C
NM_017617.5(NOTCH1):c.1100-8C>T rs545088400
NM_017617.5(NOTCH1):c.1122C>T (p.Asp374=) rs192683347
NM_017617.5(NOTCH1):c.1146C>T (p.Asn382=) rs368665838
NM_017617.5(NOTCH1):c.114A>G (p.Glu38=) rs375506915
NM_017617.5(NOTCH1):c.1205C>T (p.Ser402Leu) rs1037236860
NM_017617.5(NOTCH1):c.1255+15_1255+16del
NM_017617.5(NOTCH1):c.1272G>A (p.Glu424=) rs377342874
NM_017617.5(NOTCH1):c.1278G>A (p.Ala426=) rs781782610
NM_017617.5(NOTCH1):c.128C>T (p.Thr43Met) rs371103280
NM_017617.5(NOTCH1):c.1389C>T (p.Asn463=) rs61733293
NM_017617.5(NOTCH1):c.1393G>A (p.Ala465Thr) rs1057523819
NM_017617.5(NOTCH1):c.140+257A>T
NM_017617.5(NOTCH1):c.140+71G>A
NM_017617.5(NOTCH1):c.1407C>T (p.Asp469=)
NM_017617.5(NOTCH1):c.141-230T>C
NM_017617.5(NOTCH1):c.141-2A>T rs1554730758
NM_017617.5(NOTCH1):c.1440C>T (p.Pro480=) rs61751555
NM_017617.5(NOTCH1):c.1441+11C>A rs376506127
NM_017617.5(NOTCH1):c.1441+131A>G
NM_017617.5(NOTCH1):c.1441+18A>G rs760171880
NM_017617.5(NOTCH1):c.1441+7C>T rs9411208
NM_017617.5(NOTCH1):c.1442-12C>T rs1241878638
NM_017617.5(NOTCH1):c.1442-43C>T
NM_017617.5(NOTCH1):c.147C>T (p.Gly49=) rs746002433
NM_017617.5(NOTCH1):c.1511G>A (p.Arg504His) rs201768800
NM_017617.5(NOTCH1):c.1512C>A (p.Arg504=)
NM_017617.5(NOTCH1):c.1543G>C (p.Glu515Gln) rs749085650
NM_017617.5(NOTCH1):c.1553C>T (p.Thr518Met) rs377535397
NM_017617.5(NOTCH1):c.1554G>A (p.Thr518=) rs190721271
NM_017617.5(NOTCH1):c.1555+102C>T
NM_017617.5(NOTCH1):c.1555+10A>G rs11145767
NM_017617.5(NOTCH1):c.1555+16G>A rs368798926
NM_017617.5(NOTCH1):c.1555+245C>T
NM_017617.5(NOTCH1):c.1555+272C>T
NM_017617.5(NOTCH1):c.1555+60G>T
NM_017617.5(NOTCH1):c.1556-12C>T rs1554729635
NM_017617.5(NOTCH1):c.1556-133A>G
NM_017617.5(NOTCH1):c.1556-43T>C
NM_017617.5(NOTCH1):c.1556-9C>T rs150834418
NM_017617.5(NOTCH1):c.1567C>T (p.His523Tyr) rs572103199
NM_017617.5(NOTCH1):c.156C>T (p.Phe52=) rs536299678
NM_017617.5(NOTCH1):c.1581C>T (p.Tyr527=) rs1299929890
NM_017617.5(NOTCH1):c.1635C>T (p.Asp545=) rs11574889
NM_017617.5(NOTCH1):c.1650C>T (p.Tyr550=) rs371634784
NM_017617.5(NOTCH1):c.1664C>T (p.Thr555Met) rs746796894
NM_017617.5(NOTCH1):c.1665G>A (p.Thr555=) rs148331061
NM_017617.5(NOTCH1):c.1669+13G>A rs147260092
NM_017617.5(NOTCH1):c.1669+16C>T
NM_017617.5(NOTCH1):c.1669+9T>C rs3125006
NM_017617.5(NOTCH1):c.1670-18G>A rs375041394
NM_017617.5(NOTCH1):c.1670-19C>T rs377686947
NM_017617.5(NOTCH1):c.1670-9A>G rs3124603
NM_017617.5(NOTCH1):c.1680G>A (p.Gly560=) rs1057524117
NM_017617.5(NOTCH1):c.1699A>G (p.Ile567Val) rs369067940
NM_017617.5(NOTCH1):c.1711G>A (p.Asp571Asn) rs373125283
NM_017617.5(NOTCH1):c.1731C>T (p.Tyr577=)
NM_017617.5(NOTCH1):c.1749C>T (p.Gly583=) rs751367001
NM_017617.5(NOTCH1):c.1753G>A (p.Ala585Thr) rs775217381
NM_017617.5(NOTCH1):c.1788G>A (p.Thr596=) rs925293836
NM_017617.5(NOTCH1):c.17_18delinsTT (p.Ala6Val) rs878855023
NM_017617.5(NOTCH1):c.1862G>A (p.Arg621His) rs138504021
NM_017617.5(NOTCH1):c.1869C>T (p.Asn623=)
NM_017617.5(NOTCH1):c.186G>C (p.Pro62=) rs374320445
NM_017617.5(NOTCH1):c.1870G>A (p.Ala624Thr) rs372771179
NM_017617.5(NOTCH1):c.1903+10C>G rs375704312
NM_017617.5(NOTCH1):c.1903+17G>T rs762205505
NM_017617.5(NOTCH1):c.1904-16C>T rs775848413
NM_017617.5(NOTCH1):c.1914C>T (p.Cys638=) rs373068883
NM_017617.5(NOTCH1):c.1929T>C (p.Asp643=) rs527323201
NM_017617.5(NOTCH1):c.1953C>T (p.Asp651=) rs752168856
NM_017617.5(NOTCH1):c.1956G>T (p.Ser652=)
NM_017617.5(NOTCH1):c.1962C>T (p.Thr654=) rs61751554
NM_017617.5(NOTCH1):c.197C>T (p.Thr66Ile) rs752133245
NM_017617.5(NOTCH1):c.1981G>A (p.Gly661Ser) rs201077220
NM_017617.5(NOTCH1):c.2014+16C>T rs199814619
NM_017617.5(NOTCH1):c.2015-13G>C rs772867940
NM_017617.5(NOTCH1):c.2015-14C>T rs149013721
NM_017617.5(NOTCH1):c.2023del (p.Cys675fs) rs1064795976
NM_017617.5(NOTCH1):c.2049G>A (p.Ala683=) rs61751553
NM_017617.5(NOTCH1):c.2080G>A (p.Glu694Lys) rs79782048
NM_017617.5(NOTCH1):c.2083G>T (p.Asp695Tyr) rs767162403
NM_017617.5(NOTCH1):c.2085C>T (p.Asp695=) rs200573958
NM_017617.5(NOTCH1):c.2112C>T (p.Cys704=) rs757495549
NM_017617.5(NOTCH1):c.2124C>T (p.Tyr708=) rs376744729
NM_017617.5(NOTCH1):c.2127C>T (p.His709=) rs755898711
NM_017617.5(NOTCH1):c.2136C>A (p.Thr712=) rs369346436
NM_017617.5(NOTCH1):c.2148G>A (p.Glu716=) rs376468003
NM_017617.5(NOTCH1):c.2205C>T (p.Asn735=) rs2229970
NM_017617.5(NOTCH1):c.2206G>A (p.Gly736Arg) rs201662530
NM_017617.5(NOTCH1):c.2207+10G>A rs191892426
NM_017617.5(NOTCH1):c.2207+15C>T rs187086513
NM_017617.5(NOTCH1):c.2207+16G>A rs200956009
NM_017617.5(NOTCH1):c.2207+206T>C
NM_017617.5(NOTCH1):c.2207+70G>A
NM_017617.5(NOTCH1):c.2244C>A (p.Thr748=) rs1344101185
NM_017617.5(NOTCH1):c.2265T>C (p.Asn755=) rs2229971
NM_017617.5(NOTCH1):c.2292C>T (p.Asn764=) rs775201110
NM_017617.5(NOTCH1):c.2295C>T (p.Gly765=) rs144066379
NM_017617.5(NOTCH1):c.2352C>T (p.Ser784=) rs774701000
NM_017617.5(NOTCH1):c.2353+13C>T rs200756000
NM_017617.5(NOTCH1):c.2353+14G>A rs140288481
NM_017617.5(NOTCH1):c.2353+15C>T rs773271446
NM_017617.5(NOTCH1):c.2354-5T>C rs371944522
NM_017617.5(NOTCH1):c.2355T>C (p.Gly785=) rs199719103
NM_017617.5(NOTCH1):c.235C>T (p.Arg79Cys) rs761439288
NM_017617.5(NOTCH1):c.2427C>T (p.Asp809=) rs775162462
NM_017617.5(NOTCH1):c.2443T>A (p.Cys815Ser) rs1176627299
NM_017617.5(NOTCH1):c.244G>A (p.Val82Met) rs571831870
NM_017617.5(NOTCH1):c.2452C>T (p.Leu818=)
NM_017617.5(NOTCH1):c.2467+177G>A
NM_017617.5(NOTCH1):c.2467+21G>A
NM_017617.5(NOTCH1):c.2467+28A>G
NM_017617.5(NOTCH1):c.2467+34C>G
NM_017617.5(NOTCH1):c.2468-197C>T
NM_017617.5(NOTCH1):c.2468-19G>A rs116515776
NM_017617.5(NOTCH1):c.2468-287G>A
NM_017617.5(NOTCH1):c.2495C>T (p.Pro832Leu) rs559917218
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.2500G>T (p.Ala834Ser) rs1554728847
NM_017617.5(NOTCH1):c.2501C>G (p.Ala834Gly) rs202144877
NM_017617.5(NOTCH1):c.2505C>A (p.Pro835=) rs111756273
NM_017617.5(NOTCH1):c.2514C>T (p.Cys838=) rs1554728839
NM_017617.5(NOTCH1):c.2521G>A (p.Gly841Ser) rs369259434
NM_017617.5(NOTCH1):c.2542G>A (p.Glu848Lys) rs35136134
NM_017617.5(NOTCH1):c.2558_2560del (p.Phe853del) rs779164170
NM_017617.5(NOTCH1):c.2587+103T>C
NM_017617.5(NOTCH1):c.2587+20G>A rs148381982
NM_017617.5(NOTCH1):c.2588-104T>C
NM_017617.5(NOTCH1):c.2588-16T>G rs781139940
NM_017617.5(NOTCH1):c.2588-2A>C rs1057521857
NM_017617.5(NOTCH1):c.2588-4G>A rs3125001
NM_017617.5(NOTCH1):c.2588-93C>T
NM_017617.5(NOTCH1):c.2604C>T (p.Val868=) rs115235667
NM_017617.5(NOTCH1):c.2636G>A (p.Arg879Gln) rs368011392
NM_017617.5(NOTCH1):c.263G>A (p.Ser88Asn) rs191357265
NM_017617.5(NOTCH1):c.2646A>T (p.Ala882=) rs61751550
NM_017617.5(NOTCH1):c.2664C>T (p.His888=) rs61751548
NM_017617.5(NOTCH1):c.2691C>T (p.Ala897=) rs11574895
NM_017617.5(NOTCH1):c.2718C>T (p.Thr906=) rs200243788
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp) rs201620358
NM_017617.5(NOTCH1):c.2740+128G>A
NM_017617.5(NOTCH1):c.2740+12C>T rs36119806
NM_017617.5(NOTCH1):c.2740+187C>T
NM_017617.5(NOTCH1):c.2740+188G>A
NM_017617.5(NOTCH1):c.2740+295C>T
NM_017617.5(NOTCH1):c.2741-12G>A rs370769571
NM_017617.5(NOTCH1):c.2741-13C>G rs545249713
NM_017617.5(NOTCH1):c.2745G>A (p.Pro915=) rs766331471
NM_017617.5(NOTCH1):c.2769A>G (p.Thr923=) rs201985795
NM_017617.5(NOTCH1):c.2772C>T (p.Asp924=)
NM_017617.5(NOTCH1):c.2793C>T (p.Cys931=) rs557156741
NM_017617.5(NOTCH1):c.2805C>T (p.Pro935=) rs200332386
NM_017617.5(NOTCH1):c.2812C>T (p.Arg938Trp) rs554142958
NM_017617.5(NOTCH1):c.2813G>A (p.Arg938Gln) rs35962301
NM_017617.5(NOTCH1):c.2853T>C (p.Ser951=) rs1554728656
NM_017617.5(NOTCH1):c.2868C>T (p.Asn956=) rs760227470
NM_017617.5(NOTCH1):c.2969+13C>T rs7864720
NM_017617.5(NOTCH1):c.2969+14G>A rs112192550
NM_017617.5(NOTCH1):c.2969+182C>T
NM_017617.5(NOTCH1):c.2969+308C>T
NM_017617.5(NOTCH1):c.2970-20G>A rs367927174
NM_017617.5(NOTCH1):c.2970-31A>G
NM_017617.5(NOTCH1):c.2970-9C>T rs568052902
NM_017617.5(NOTCH1):c.3012G>A (p.Ser1004=) rs371301397
NM_017617.5(NOTCH1):c.3015C>T (p.Phe1005=) rs991348745
NM_017617.5(NOTCH1):c.3042G>A (p.Thr1014=) rs371532644
NM_017617.5(NOTCH1):c.3099C>T (p.Gly1033=) rs775567314
NM_017617.5(NOTCH1):c.311A>G (p.Asn104Ser) rs199654211
NM_017617.5(NOTCH1):c.312T>C (p.Asn104=) rs4489420
NM_017617.5(NOTCH1):c.3171+12G>A rs753242532
NM_017617.5(NOTCH1):c.3171+153G>A
NM_017617.5(NOTCH1):c.3171+220A>G
NM_017617.5(NOTCH1):c.3171+54A>G
NM_017617.5(NOTCH1):c.3171+8C>T
NM_017617.5(NOTCH1):c.3172-122T>C
NM_017617.5(NOTCH1):c.3172-12A>G rs547259185
NM_017617.5(NOTCH1):c.3172-71A>G
NM_017617.5(NOTCH1):c.3192C>T (p.Asp1064=) rs587778565
NM_017617.5(NOTCH1):c.3198G>A (p.Ser1066=) rs199892488
NM_017617.5(NOTCH1):c.3249C>T (p.Cys1083=) rs139994842
NM_017617.5(NOTCH1):c.3262G>C (p.Gly1088Arg) rs531420022
NM_017617.5(NOTCH1):c.3270C>T (p.Thr1090=) rs773990513
NM_017617.5(NOTCH1):c.3288G>C (p.Val1096=) rs374944458
NM_017617.5(NOTCH1):c.328C>T (p.Pro110Ser) rs1064796976
NM_017617.5(NOTCH1):c.3294C>T (p.Ser1098=) rs61751546
NM_017617.5(NOTCH1):c.3315G>T (p.Ala1105=) rs3812602
NM_017617.5(NOTCH1):c.3325+21A>G
NM_017617.5(NOTCH1):c.3326-11A>C rs377648586
NM_017617.5(NOTCH1):c.3326-16A>T rs374731388
NM_017617.5(NOTCH1):c.3333C>T (p.Asp1111=) rs61751545
NM_017617.5(NOTCH1):c.3341G>A (p.Arg1114His) rs777684045
NM_017617.5(NOTCH1):c.335G>A (p.Arg112His) rs768625801
NM_017617.5(NOTCH1):c.3384G>A (p.Thr1128=) rs200608278
NM_017617.5(NOTCH1):c.3510+11C>T rs1057524613
NM_017617.5(NOTCH1):c.3510+148G>A
NM_017617.5(NOTCH1):c.3511-10G>A rs139838537
NM_017617.5(NOTCH1):c.3511-11C>T rs201280571
NM_017617.5(NOTCH1):c.3511-175G>A
NM_017617.5(NOTCH1):c.3528C>T (p.His1176=) rs202133782
NM_017617.5(NOTCH1):c.3552C>T (p.Ile1184=) rs773375573
NM_017617.5(NOTCH1):c.3643+10G>A rs1159458812
NM_017617.5(NOTCH1):c.3643+14C>T rs776243821
NM_017617.5(NOTCH1):c.3643+17G>A rs376187570
NM_017617.5(NOTCH1):c.3643+8C>G rs1057523546
NM_017617.5(NOTCH1):c.3644-152G>C
NM_017617.5(NOTCH1):c.3644-17G>A rs139960251
NM_017617.5(NOTCH1):c.3644-4G>A rs376161552
NM_017617.5(NOTCH1):c.3644-79C>T
NM_017617.5(NOTCH1):c.3684C>T (p.Pro1228=)
NM_017617.5(NOTCH1):c.368C>T (p.Thr123Met) rs187473846
NM_017617.5(NOTCH1):c.3767C>T (p.Pro1256Leu) rs80340744
NM_017617.5(NOTCH1):c.3780G>C (p.Val1260=) rs201354526
NM_017617.5(NOTCH1):c.3835C>T (p.Arg1279Cys) rs182330532
NM_017617.5(NOTCH1):c.3836G>A (p.Arg1279His) rs61751543
NM_017617.5(NOTCH1):c.383G>A (p.Arg128His) rs754086897
NM_017617.5(NOTCH1):c.3852C>T (p.Cys1284=) rs377289044
NM_017617.5(NOTCH1):c.3853G>A (p.Val1285Met) rs756972680
NM_017617.5(NOTCH1):c.3869A>G (p.Asp1290Gly) rs1347832105
NM_017617.5(NOTCH1):c.3901+19C>T rs373752718
NM_017617.5(NOTCH1):c.3901+3G>A rs373113999
NM_017617.5(NOTCH1):c.3902-4C>T rs1057524704
NM_017617.5(NOTCH1):c.390G>A (p.Pro130=) rs61751559
NM_017617.5(NOTCH1):c.3915G>A (p.Glu1305=) rs1554728133
NM_017617.5(NOTCH1):c.4010C>G (p.Pro1337Arg) rs1043832212
NM_017617.5(NOTCH1):c.4014+75G>A
NM_017617.5(NOTCH1):c.4014G>A (p.Ala1338=) rs377217445
NM_017617.5(NOTCH1):c.4015-73G>A
NM_017617.5(NOTCH1):c.4015-7C>T rs761783451
NM_017617.5(NOTCH1):c.4016G>C (p.Gly1339Ala) rs1131692021
NM_017617.5(NOTCH1):c.4028C>T (p.Ala1343Val) rs183156491
NM_017617.5(NOTCH1):c.4031C>T (p.Thr1344Met) rs201215245
NM_017617.5(NOTCH1):c.404-117T>C
NM_017617.5(NOTCH1):c.404-13C>G rs766360723
NM_017617.5(NOTCH1):c.404-5T>C rs1229789449
NM_017617.5(NOTCH1):c.4049G>T (p.Arg1350Leu) rs150343794
NM_017617.5(NOTCH1):c.4056C>T (p.Cys1352=) rs200099319
NM_017617.5(NOTCH1):c.4066C>T (p.Arg1356Cys) rs587778567
NM_017617.5(NOTCH1):c.4096G>A (p.Gly1366Ser) rs778270588
NM_017617.5(NOTCH1):c.4101G>A (p.Pro1367=) rs374921637
NM_017617.5(NOTCH1):c.411G>A (p.Ser137=) rs560826996
NM_017617.5(NOTCH1):c.411G>T (p.Ser137=)
NM_017617.5(NOTCH1):c.4121G>T (p.Cys1374Phe) rs1064796867
NM_017617.5(NOTCH1):c.4129C>T (p.Pro1377Ser) rs61751542
NM_017617.5(NOTCH1):c.4185C>T (p.Asn1395=) rs749570626
NM_017617.5(NOTCH1):c.4262A>G (p.Asn1421Ser) rs76473337
NM_017617.5(NOTCH1):c.4296C>T (p.Phe1432=) rs774697636
NM_017617.5(NOTCH1):c.4326G>A (p.Pro1442=) rs376469653
NM_017617.5(NOTCH1):c.432C>T (p.Cys144=) rs373713957
NM_017617.5(NOTCH1):c.4335C>G (p.Ile1445Met) rs373960609
NM_017617.5(NOTCH1):c.4407C>T (p.Asn1469=) rs202231073
NM_017617.5(NOTCH1):c.4410C>T (p.His1470=) rs750183248
NM_017617.5(NOTCH1):c.4426G>A (p.Gly1476Ser) rs776133530
NM_017617.5(NOTCH1):c.4428C>T (p.Gly1476=) rs765751888
NM_017617.5(NOTCH1):c.4536C>T (p.Ala1512=) rs61751540
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.4571C>T (p.Ala1524Val) rs774374213
NM_017617.5(NOTCH1):c.4572G>A (p.Ala1524=) rs745794855
NM_017617.5(NOTCH1):c.4586+11G>C rs777578180
NM_017617.5(NOTCH1):c.4626C>T (p.Asp1542=) rs142375989
NM_017617.5(NOTCH1):c.4710G>A (p.Ala1570=) rs773978978
NM_017617.5(NOTCH1):c.4718C>T (p.Thr1573Met) rs573864607
NM_017617.5(NOTCH1):c.4719G>A (p.Thr1573=) rs775105774
NM_017617.5(NOTCH1):c.4746G>A (p.Pro1582=) rs886038974
NM_017617.5(NOTCH1):c.4798C>T (p.Leu1600=) rs1554727850
NM_017617.5(NOTCH1):c.4809C>T (p.Asn1603=) rs370523171
NM_017617.5(NOTCH1):c.4823G>A (p.Arg1608His) rs76371972
NM_017617.5(NOTCH1):c.4827C>T (p.Asp1609=) rs113634293
NM_017617.5(NOTCH1):c.4860C>T (p.Tyr1620=) rs375196212
NM_017617.5(NOTCH1):c.4879C>T (p.Arg1627Cys) rs1203442527
NM_017617.5(NOTCH1):c.4887C>T (p.His1629=) rs61751539
NM_017617.5(NOTCH1):c.4898G>A (p.Arg1633His) rs375018022
NM_017617.5(NOTCH1):c.4905C>T (p.Ala1635=) rs751446074
NM_017617.5(NOTCH1):c.4917C>T (p.Ala1639=) rs371365065
NM_017617.5(NOTCH1):c.4930C>T (p.Leu1644=) rs568700183
NM_017617.5(NOTCH1):c.4971C>T (p.Ser1657=) rs367838230
NM_017617.5(NOTCH1):c.5011G>A (p.Val1671Ile) rs2229968
NM_017617.5(NOTCH1):c.5016C>T (p.Arg1672=) rs1251609154
NM_017617.5(NOTCH1):c.5018+13C>T rs752508890
NM_017617.5(NOTCH1):c.5018+14G>A rs936227030
NM_017617.5(NOTCH1):c.5019-13A>G rs148002954
NM_017617.5(NOTCH1):c.5019-286G>A
NM_017617.5(NOTCH1):c.5019-51C>T
NM_017617.5(NOTCH1):c.5019-6G>A rs978561896
NM_017617.5(NOTCH1):c.5073G>A (p.Gln1691=) rs61751538
NM_017617.5(NOTCH1):c.5094C>T (p.Asp1698=) rs10521
NM_017617.5(NOTCH1):c.5100C>T (p.Ala1700=) rs376495459
NM_017617.5(NOTCH1):c.5103A>G (p.Ala1701=) rs776610176
NM_017617.5(NOTCH1):c.5118C>T (p.Leu1706=) rs747037396
NM_017617.5(NOTCH1):c.5124G>T (p.Ser1708=) rs35980907
NM_017617.5(NOTCH1):c.5160C>T (p.Ala1720=) rs780625273
NM_017617.5(NOTCH1):c.5167+189C>A
NM_017617.5(NOTCH1):c.5168-10G>A rs199903655
NM_017617.5(NOTCH1):c.5168-15C>T rs1422578873
NM_017617.5(NOTCH1):c.5168-4G>A rs751709616
NM_017617.5(NOTCH1):c.5168-5C>T rs757370134
NM_017617.5(NOTCH1):c.5168-7C>T
NM_017617.5(NOTCH1):c.516C>T (p.Gly172=)
NM_017617.5(NOTCH1):c.5175C>T (p.Thr1725=) rs61751536
NM_017617.5(NOTCH1):c.5184G>A (p.Pro1728=) rs760548371
NM_017617.5(NOTCH1):c.51C>T (p.Leu17=) rs1478932209
NM_017617.5(NOTCH1):c.5219C>T (p.Ala1740Val) rs777962754
NM_017617.5(NOTCH1):c.5223G>A (p.Ala1741=) rs766444406
NM_017617.5(NOTCH1):c.5224G>T (p.Ala1742Ser) rs760669267
NM_017617.5(NOTCH1):c.5226C>T (p.Ala1742=) rs116316039
NM_017617.5(NOTCH1):c.5347C>T (p.Arg1783Trp) rs528703507
NM_017617.5(NOTCH1):c.534T>C (p.Asp178=) rs1554730656
NM_017617.5(NOTCH1):c.5384+13C>T rs112582298
NM_017617.5(NOTCH1):c.5384+14G>A rs755122664
NM_017617.5(NOTCH1):c.5385-18C>T rs370602147
NM_017617.5(NOTCH1):c.5385-70C>T
NM_017617.5(NOTCH1):c.5403A>G (p.Ser1801=) rs201358664
NM_017617.5(NOTCH1):c.540C>T (p.Asn180=) rs760162406
NM_017617.5(NOTCH1):c.5421C>T (p.Asp1807=) rs376590737
NM_017617.5(NOTCH1):c.5445C>T (p.Asp1815=) rs61751535
NM_017617.5(NOTCH1):c.5452C>G (p.Leu1818Val) rs1064796983
NM_017617.5(NOTCH1):c.5472+19G>C rs755674060
NM_017617.5(NOTCH1):c.5473-43T>C
NM_017617.5(NOTCH1):c.5492T>C (p.Leu1831Pro) rs1085307869
NM_017617.5(NOTCH1):c.5500C>T (p.Leu1834=) rs73668312
NM_017617.5(NOTCH1):c.5506G>A (p.Asp1836Asn) rs200100726
NM_017617.5(NOTCH1):c.5550C>T (p.Ala1850=) rs374451515
NM_017617.5(NOTCH1):c.5562C>T (p.Arg1854=) rs777125560
NM_017617.5(NOTCH1):c.558C>T (p.Pro186=) rs756111268
NM_017617.5(NOTCH1):c.5638+19A>G rs368675083
NM_017617.5(NOTCH1):c.5639-12C>T rs11574908
NM_017617.5(NOTCH1):c.5639-174G>A
NM_017617.5(NOTCH1):c.5673C>T (p.Ser1891=) rs2229972
NM_017617.5(NOTCH1):c.5676G>A (p.Gly1892=) rs763584589
NM_017617.5(NOTCH1):c.5679C>T (p.Gly1893=) rs2229973
NM_017617.5(NOTCH1):c.5715C>T (p.Asp1905=) rs748200129
NM_017617.5(NOTCH1):c.5718G>A (p.Ala1906=) rs369730620
NM_017617.5(NOTCH1):c.5721G>A (p.Pro1907=) rs1020718980
NM_017617.5(NOTCH1):c.5733C>T (p.Ser1911=) rs61751534
NM_017617.5(NOTCH1):c.5776C>T (p.Arg1926Cys) rs199652954
NM_017617.5(NOTCH1):c.5805C>T (p.Ala1935=) rs774693459
NM_017617.5(NOTCH1):c.5865C>T (p.Asn1955=) rs1554826853
NM_017617.5(NOTCH1):c.5892G>A (p.Pro1964=) rs769135138
NM_017617.5(NOTCH1):c.5913C>T (p.Ala1971=)
NM_017617.5(NOTCH1):c.591C>T (p.Asn197=) rs370684825
NM_017617.5(NOTCH1):c.5922A>G (p.Gln1974=) rs770803201
NM_017617.5(NOTCH1):c.5934+13T>C rs1326440924
NM_017617.5(NOTCH1):c.5934+45G>A
NM_017617.5(NOTCH1):c.5935-148G>A
NM_017617.5(NOTCH1):c.5935-209G>A
NM_017617.5(NOTCH1):c.5981A>G (p.Asp1994Gly) rs1454512890
NM_017617.5(NOTCH1):c.5988G>A (p.Thr1996=) rs186453356
NM_017617.5(NOTCH1):c.6028A>T (p.Met2010Leu) rs1085307554
NM_017617.5(NOTCH1):c.6045del (p.Asn2016fs) rs1554826736
NM_017617.5(NOTCH1):c.6069C>T (p.Ala2023=) rs375920679
NM_017617.5(NOTCH1):c.6082+10C>T rs114120958
NM_017617.5(NOTCH1):c.6082+18C>T rs200956958
NM_017617.5(NOTCH1):c.6083-15G>C rs935662425
NM_017617.5(NOTCH1):c.6083-4G>A rs570242146
NM_017617.5(NOTCH1):c.608G>A (p.Arg203His) rs182763411
NM_017617.5(NOTCH1):c.61+14C>T rs1425831389
NM_017617.5(NOTCH1):c.6105C>T (p.Ala2035=) rs188357478
NM_017617.5(NOTCH1):c.6111C>G (p.Ala2037=) rs749488166
NM_017617.5(NOTCH1):c.6120T>C (p.Asn2040=) rs201625763
NM_017617.5(NOTCH1):c.6131C>T (p.Ala2044Val) rs1085307562
NM_017617.5(NOTCH1):c.6150C>T (p.Asn2050=) rs757372588
NM_017617.5(NOTCH1):c.6173_6175ACA[1] (p.Asn2059del) rs1057518096
NM_017617.5(NOTCH1):c.6180+126G>A
NM_017617.5(NOTCH1):c.6180+176T>C
NM_017617.5(NOTCH1):c.6180+189C>T
NM_017617.5(NOTCH1):c.6180+284G>A
NM_017617.5(NOTCH1):c.6180+8C>T rs769015966
NM_017617.5(NOTCH1):c.6180+9G>A rs200371378
NM_017617.5(NOTCH1):c.6180+9G>T rs200371378
NM_017617.5(NOTCH1):c.6181-15G>A rs375436198
NM_017617.5(NOTCH1):c.6181-7C>T rs1283606239
NM_017617.5(NOTCH1):c.62-8C>T rs202023246
NM_017617.5(NOTCH1):c.6204C>T (p.Ala2068=) rs767118276
NM_017617.5(NOTCH1):c.621C>T (p.Arg207=) rs756164624
NM_017617.5(NOTCH1):c.6222C>T (p.Tyr2074=) rs764551640
NM_017617.5(NOTCH1):c.6223G>A (p.Glu2075Lys)
NM_017617.5(NOTCH1):c.6283C>T (p.Arg2095Cys) rs780873661
NM_017617.5(NOTCH1):c.62G>A (p.Gly21Asp) rs1554733407
NM_017617.5(NOTCH1):c.6300C>A (p.Ile2100=) rs773483690
NM_017617.5(NOTCH1):c.6358C>T (p.Arg2120Cys) rs375969725
NM_017617.5(NOTCH1):c.6363C>T (p.Ser2121=) rs61751533
NM_017617.5(NOTCH1):c.6366G>A (p.Pro2122=) rs762003410
NM_017617.5(NOTCH1):c.6375C>T (p.His2125=) rs369009290
NM_017617.5(NOTCH1):c.6396G>C (p.Thr2132=) rs554843595
NM_017617.5(NOTCH1):c.6397C>T (p.Pro2133Ser) rs61733294
NM_017617.5(NOTCH1):c.6409C>T (p.Pro2137Ser) rs372698234
NM_017617.5(NOTCH1):c.6428A>G (p.Asn2143Ser) rs1085307778
NM_017617.5(NOTCH1):c.6429C>T (p.Asn2143=) rs369845924
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.6481C>T (p.Pro2161Ser) rs201518848
NM_017617.5(NOTCH1):c.64C>T (p.Pro22Ser) rs114832250
NM_017617.5(NOTCH1):c.650G>A (p.Arg217Gln) rs1392605424
NM_017617.5(NOTCH1):c.6521A>G (p.Lys2174Arg) rs761602495
NM_017617.5(NOTCH1):c.6546G>A (p.Lys2182=) rs1554826502
NM_017617.5(NOTCH1):c.6555C>T (p.Asp2185=) rs2229974
NM_017617.5(NOTCH1):c.6568C>T (p.Leu2190=) rs1037034230
NM_017617.5(NOTCH1):c.6570G>A (p.Leu2190=)
NM_017617.5(NOTCH1):c.6570G>C (p.Leu2190=) rs200630233
NM_017617.5(NOTCH1):c.6582C>T (p.Ser2194=) rs200853719
NM_017617.5(NOTCH1):c.6583G>A (p.Gly2195Ser) rs376422513
NM_017617.5(NOTCH1):c.6593C>A (p.Ser2198Ter) rs761562076
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.6607C>T (p.Leu2203=)
NM_017617.5(NOTCH1):c.6636C>T (p.Asp2212=) rs370606059
NM_017617.5(NOTCH1):c.663C>T (p.Pro221=) rs11574872
NM_017617.5(NOTCH1):c.6648G>A (p.Pro2216=) rs3812596
NM_017617.5(NOTCH1):c.6666G>A (p.Pro2222=) rs202229687
NM_017617.5(NOTCH1):c.6733G>A (p.Gly2245Arg) rs201613894
NM_017617.5(NOTCH1):c.6739C>T (p.Leu2247=)
NM_017617.5(NOTCH1):c.6744C>T (p.Asn2248=) rs372771288
NM_017617.5(NOTCH1):c.6768G>A (p.Ala2256=) rs575575412
NM_017617.5(NOTCH1):c.6777T>C (p.Gly2259=) rs61751490
NM_017617.5(NOTCH1):c.6783C>T (p.Gly2261=) rs749536941
NM_017617.5(NOTCH1):c.6789G>C (p.Arg2263=)
NM_017617.5(NOTCH1):c.6814C>T (p.Arg2272Cys) rs752505638
NM_017617.5(NOTCH1):c.6815G>A (p.Arg2272His) rs972658026
NM_017617.5(NOTCH1):c.6822C>A (p.Ser2274=) rs754675254
NM_017617.5(NOTCH1):c.6826C>T (p.Leu2276=) rs1554826447
NM_017617.5(NOTCH1):c.6836C>T (p.Ala2279Val) rs200370953
NM_017617.5(NOTCH1):c.6853G>A (p.Val2285Ile) rs61751489
NM_017617.5(NOTCH1):c.6867C>A (p.Ser2289Arg) rs1131691923
NM_017617.5(NOTCH1):c.6870C>T (p.Ser2290=) rs61751488
NM_017617.5(NOTCH1):c.687C>T (p.Asn229=) rs535217359
NM_017617.5(NOTCH1):c.6895G>A (p.Gly2299Ser) rs1020747496
NM_017617.5(NOTCH1):c.6966A>G (p.Gln2322=)
NM_017617.5(NOTCH1):c.6975T>C (p.Pro2325=) rs200814776
NM_017617.5(NOTCH1):c.6991G>A (p.Ala2331Thr) rs111309246
NM_017617.5(NOTCH1):c.701G>A (p.Arg234His) rs150737112
NM_017617.5(NOTCH1):c.7047G>A (p.Pro2349=) rs775336930
NM_017617.5(NOTCH1):c.708G>A (p.Thr236=) rs774679591
NM_017617.5(NOTCH1):c.7090A>G (p.Ser2364Gly) rs201045092
NM_017617.5(NOTCH1):c.711C>T (p.Gly237=) rs61751557
NM_017617.5(NOTCH1):c.714C>T (p.Asp238=) rs532058137
NM_017617.5(NOTCH1):c.7175T>C (p.Met2392Thr) rs1036612594
NM_017617.5(NOTCH1):c.7200A>G (p.Ala2400=) rs780295772
NM_017617.5(NOTCH1):c.7203C>T (p.Asn2401=) rs756434740
NM_017617.5(NOTCH1):c.7209G>A (p.Gln2403=) rs61751486
NM_017617.5(NOTCH1):c.7210C>T (p.Gln2404Ter) rs1554826400
NM_017617.5(NOTCH1):c.7233A>G (p.Pro2411=) rs11574911
NM_017617.5(NOTCH1):c.7251G>A (p.Pro2417=) rs368498380
NM_017617.5(NOTCH1):c.7269A>C (p.Ser2423=) rs1057523931
NM_017617.5(NOTCH1):c.7289G>C (p.Gly2430Ala) rs36049318
NM_017617.5(NOTCH1):c.7316G>C (p.Ser2439Thr) rs1131691402
NM_017617.5(NOTCH1):c.7338G>A (p.Leu2446=) rs35320927
NM_017617.5(NOTCH1):c.7356G>A (p.Ala2452=) rs781520893
NM_017617.5(NOTCH1):c.7369C>G (p.Leu2457Val) rs61755043
NM_017617.5(NOTCH1):c.7386C>T (p.Pro2462=) rs369470875
NM_017617.5(NOTCH1):c.7387G>A (p.Ala2463Thr) rs537210445
NM_017617.5(NOTCH1):c.7390C>T (p.Leu2464=) rs372760677
NM_017617.5(NOTCH1):c.7397C>T (p.Thr2466Met) rs369167555
NM_017617.5(NOTCH1):c.7449G>A (p.Thr2483=) rs375728200
NM_017617.5(NOTCH1):c.7515T>G (p.Pro2505=) rs34152221
NM_017617.5(NOTCH1):c.7536G>A (p.Pro2512=) rs192299793
NM_017617.5(NOTCH1):c.7606G>A (p.Val2536Ile) rs111627256
NM_017617.5(NOTCH1):c.7648A>G (p.Ile2550Val) rs188270459
NM_017617.5(NOTCH1):c.775G>A (p.Asp259Asn) rs763187824
NM_017617.5(NOTCH1):c.852G>A (p.Pro284=) rs2229975
NM_017617.5(NOTCH1):c.865+16G>A rs199828787
NM_017617.5(NOTCH1):c.865+18C>T rs55677618
NM_017617.5(NOTCH1):c.865+240A>G
NM_017617.5(NOTCH1):c.865+251G>A
NM_017617.5(NOTCH1):c.866-257G>A
NM_017617.5(NOTCH1):c.866-263G>A
NM_017617.5(NOTCH1):c.873C>T (p.Tyr291=) rs143654474
NM_017617.5(NOTCH1):c.927C>T (p.Gly309=) rs753681098
NM_017617.5(NOTCH1):c.963C>T (p.Cys321=) rs201158068
NM_017617.5(NOTCH1):c.999C>T (p.Ser333=) rs751646144

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