ClinVar Miner

List of variants in gene NOTCH1 studied for Adams-Oliver syndrome

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 808
Download table as spreadsheet
HGVS dbSNP
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.1015_1016TG[1] (p.Ala340fs)
NM_017617.5(NOTCH1):c.102C>T (p.Gly34=) rs777575093
NM_017617.5(NOTCH1):c.1038C>T (p.His346=) rs376951155
NM_017617.5(NOTCH1):c.103G>A (p.Gly35Arg)
NM_017617.5(NOTCH1):c.1041C>T (p.Gly347=) rs553606088
NM_017617.5(NOTCH1):c.1042G>C (p.Ala348Pro) rs201236538
NM_017617.5(NOTCH1):c.1044C>T (p.Ala348=) rs749267756
NM_017617.5(NOTCH1):c.1045A>C (p.Thr349Pro) rs200520088
NM_017617.5(NOTCH1):c.1067C>T (p.Ser356Phe)
NM_017617.5(NOTCH1):c.1077C>T (p.Cys359=) rs202235419
NM_017617.5(NOTCH1):c.1081T>C (p.Cys361Arg)
NM_017617.5(NOTCH1):c.1094G>A (p.Arg365His) rs775991013
NM_017617.5(NOTCH1):c.1100-7T>C rs376603720
NM_017617.5(NOTCH1):c.1100-8C>T rs545088400
NM_017617.5(NOTCH1):c.1109G>A (p.Cys370Tyr) rs1564199987
NM_017617.5(NOTCH1):c.1120G>A (p.Asp374Asn)
NM_017617.5(NOTCH1):c.1122C>T (p.Asp374=) rs192683347
NM_017617.5(NOTCH1):c.1135A>C (p.Asn379His)
NM_017617.5(NOTCH1):c.1136A>G (p.Asn379Ser)
NM_017617.5(NOTCH1):c.1146C>T (p.Asn382=) rs368665838
NM_017617.5(NOTCH1):c.1185G>A (p.Lys395=) rs774399901
NM_017617.5(NOTCH1):c.1188C>G (p.Ala396=) rs779573597
NM_017617.5(NOTCH1):c.1205C>T (p.Ser402Leu) rs1037236860
NM_017617.5(NOTCH1):c.1220C>G (p.Pro407Arg) rs754529382
NM_017617.5(NOTCH1):c.1236C>T (p.Asp412=) rs780769573
NM_017617.5(NOTCH1):c.1237G>A (p.Val413Met) rs373770404
NM_017617.5(NOTCH1):c.1242T>G (p.Asp414Glu)
NM_017617.5(NOTCH1):c.1250C>T (p.Ser417Leu) rs757631575
NM_017617.5(NOTCH1):c.1255+9C>T rs775401272
NM_017617.5(NOTCH1):c.1256-8C>G rs1052776009
NM_017617.5(NOTCH1):c.1269C>T (p.Cys423=) rs775219296
NM_017617.5(NOTCH1):c.1272G>A (p.Glu424=) rs377342874
NM_017617.5(NOTCH1):c.1277C>G (p.Ala426Gly) rs528033027
NM_017617.5(NOTCH1):c.1285T>C (p.Cys429Arg) rs587777736
NM_017617.5(NOTCH1):c.1295C>T (p.Thr432Met) rs200562991
NM_017617.5(NOTCH1):c.1309G>A (p.Glu437Lys) rs1060502238
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.1367G>A (p.Cys456Tyr) rs864622058
NM_017617.5(NOTCH1):c.1369G>A (p.Val457Ile) rs573153379
NM_017617.5(NOTCH1):c.1389C>T (p.Asn463=) rs61733293
NM_017617.5(NOTCH1):c.1392C>T (p.Asp464=) rs748499336
NM_017617.5(NOTCH1):c.1393G>A (p.Ala465Thr) rs1057523819
NM_017617.5(NOTCH1):c.1396del (p.Thr466fs) rs1564199476
NM_017617.5(NOTCH1):c.1440C>A (p.Pro480=)
NM_017617.5(NOTCH1):c.1440C>T (p.Pro480=) rs61751555
NM_017617.5(NOTCH1):c.1441+4C>T rs764082065
NM_017617.5(NOTCH1):c.1441G>C (p.Gly481Arg) rs1448146225
NM_017617.5(NOTCH1):c.1442-3C>T rs1589067790
NM_017617.5(NOTCH1):c.1477G>A (p.Glu493Lys) rs1554729862
NM_017617.5(NOTCH1):c.147C>T (p.Gly49=) rs746002433
NM_017617.5(NOTCH1):c.148G>A (p.Gly50Arg)
NM_017617.5(NOTCH1):c.1496G>T (p.Cys499Phe)
NM_017617.5(NOTCH1):c.1510C>T (p.Arg504Cys) rs752071569
NM_017617.5(NOTCH1):c.1511G>A (p.Arg504His) rs201768800
NM_017617.5(NOTCH1):c.1514G>A (p.Cys505Tyr) rs1060502240
NM_017617.5(NOTCH1):c.152C>A (p.Ala51Asp) rs771954465
NM_017617.5(NOTCH1):c.1539G>C (p.Gln513His) rs747069934
NM_017617.5(NOTCH1):c.153C>T (p.Ala51=) rs748048002
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.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.157G>A (p.Val53Met) rs757497167
NM_017617.5(NOTCH1):c.1582G>A (p.Asp528Asn) rs757988142
NM_017617.5(NOTCH1):c.1590C>T (p.Asp530=) rs562807473
NM_017617.5(NOTCH1):c.1635C>T (p.Asp545=) rs11574889
NM_017617.5(NOTCH1):c.1636G>A (p.Gly546Arg)
NM_017617.5(NOTCH1):c.1649dup (p.Tyr550Ter) rs864622059
NM_017617.5(NOTCH1):c.1650C>T (p.Tyr550=) rs371634784
NM_017617.5(NOTCH1):c.165G>A (p.Pro55=) rs373793124
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+4C>A
NM_017617.5(NOTCH1):c.1669+5G>A rs771590616
NM_017617.5(NOTCH1):c.1670-10C>T rs751747178
NM_017617.5(NOTCH1):c.1670-10_1670-9inv
NM_017617.5(NOTCH1):c.1670-8C>T rs527374781
NM_017617.5(NOTCH1):c.1676C>T (p.Thr559Met)
NM_017617.5(NOTCH1):c.1682C>T (p.Thr561Met) rs560030759
NM_017617.5(NOTCH1):c.1693G>A (p.Val565Met) rs750330670
NM_017617.5(NOTCH1):c.1699A>G (p.Ile567Val) rs369067940
NM_017617.5(NOTCH1):c.16G>A (p.Ala6Thr) rs1564217184
NM_017617.5(NOTCH1):c.1710C>T (p.Cys570=) rs762590262
NM_017617.5(NOTCH1):c.1711G>A (p.Asp571Asn) rs373125283
NM_017617.5(NOTCH1):c.1721C>T (p.Pro574Leu)
NM_017617.5(NOTCH1):c.1747G>A (p.Gly583Ser) rs757066417
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.1756A>C (p.Thr586Pro) rs764854903
NM_017617.5(NOTCH1):c.1756A>G (p.Thr586Ala)
NM_017617.5(NOTCH1):c.1760T>A (p.Phe587Tyr)
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.1774C>T (p.Arg592Cys)
NM_017617.5(NOTCH1):c.1787C>T (p.Thr596Met) rs61755997
NM_017617.5(NOTCH1):c.1792C>T (p.His598Tyr) rs1589066307
NM_017617.5(NOTCH1):c.1799G>T (p.Cys600Phe)
NM_017617.5(NOTCH1):c.17_18delinsTT (p.Ala6Val) rs878855023
NM_017617.5(NOTCH1):c.1800C>T (p.Cys600=) rs755070916
NM_017617.5(NOTCH1):c.1801G>A (p.Glu601Lys) rs749381544
NM_017617.5(NOTCH1):c.1815C>G (p.Asn605Lys) rs781029850
NM_017617.5(NOTCH1):c.1837C>T (p.Arg613Cys) rs763988265
NM_017617.5(NOTCH1):c.1838G>A (p.Arg613His)
NM_017617.5(NOTCH1):c.1843G>A (p.Gly615Arg) rs764942073
NM_017617.5(NOTCH1):c.1862G>A (p.Arg621His) rs138504021
NM_017617.5(NOTCH1):c.1863C>T (p.Arg621=) rs749374016
NM_017617.5(NOTCH1):c.1864G>A (p.Asp622Asn) rs367873715
NM_017617.5(NOTCH1):c.186G>C (p.Pro62=) rs374320445
NM_017617.5(NOTCH1):c.1896_1897delinsTG (p.Thr633Ala)
NM_017617.5(NOTCH1):c.1903+10C>G rs375704312
NM_017617.5(NOTCH1):c.1903+6C>T rs753388966
NM_017617.5(NOTCH1):c.1904-3C>A rs748118679
NM_017617.5(NOTCH1):c.1914C>T (p.Cys638=) rs373068883
NM_017617.5(NOTCH1):c.1918A>G (p.Ile640Val) rs1307313338
NM_017617.5(NOTCH1):c.1924C>G (p.Leu642Val) rs755740633
NM_017617.5(NOTCH1):c.1933_1934TG[1] (p.Ala646fs) rs1554729443
NM_017617.5(NOTCH1):c.1945C>A (p.Pro649Thr) rs780710009
NM_017617.5(NOTCH1):c.1950C>T (p.Cys650=) rs147086700
NM_017617.5(NOTCH1):c.1956G>A (p.Ser652=) rs376101458
NM_017617.5(NOTCH1):c.1962C>T (p.Thr654=) rs61751554
NM_017617.5(NOTCH1):c.1972A>G (p.Lys658Glu) rs1260932753
NM_017617.5(NOTCH1):c.1978G>A (p.Asp660Asn)
NM_017617.5(NOTCH1):c.1981G>A (p.Gly661Ser) rs201077220
NM_017617.5(NOTCH1):c.1986C>T (p.Tyr662=) rs749156185
NM_017617.5(NOTCH1):c.19C>T (p.Pro7Ser) rs1397523469
NM_017617.5(NOTCH1):c.2003C>T (p.Pro668Leu)
NM_017617.5(NOTCH1):c.2014+6C>T rs529806324
NM_017617.5(NOTCH1):c.201C>A (p.Pro67=) rs764636339
NM_017617.5(NOTCH1):c.2037C>T (p.Ile679=) rs367591933
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.20C>T (p.Pro7Leu) rs1554733804
NM_017617.5(NOTCH1):c.2108G>A (p.Arg703His) rs561126575
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.2126A>G (p.His709Arg) rs373233257
NM_017617.5(NOTCH1):c.2127C>T (p.His709=) rs755898711
NM_017617.5(NOTCH1):c.2134A>G (p.Thr712Ala) rs200692749
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.2186C>T (p.Ala729Val)
NM_017617.5(NOTCH1):c.2191C>T (p.Arg731Trp) rs199666126
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+5G>A rs1214619547
NM_017617.5(NOTCH1):c.2207+7G>A rs138935812
NM_017617.5(NOTCH1):c.2207+9C>T rs751315476
NM_017617.5(NOTCH1):c.2217C>T (p.Cys739=) rs752226005
NM_017617.5(NOTCH1):c.2218G>A (p.Asp740Asn) rs200816814
NM_017617.5(NOTCH1):c.2226C>G (p.Asp742Glu)
NM_017617.5(NOTCH1):c.2263_2265del (p.Asn755del) rs587778559
NM_017617.5(NOTCH1):c.2291A>G (p.Asn764Ser) rs1454630791
NM_017617.5(NOTCH1):c.2293G>A (p.Gly765Ser)
NM_017617.5(NOTCH1):c.2318G>C (p.Ser773Thr) rs758073507
NM_017617.5(NOTCH1):c.2325C>T (p.Tyr775=) rs749686245
NM_017617.5(NOTCH1):c.2326G>A (p.Val776Met) rs377286829
NM_017617.5(NOTCH1):c.2326G>T (p.Val776Leu) rs377286829
NM_017617.5(NOTCH1):c.2340G>A (p.Arg780=) rs767935604
NM_017617.5(NOTCH1):c.2349C>T (p.Phe783=) rs200092299
NM_017617.5(NOTCH1):c.2352C>T (p.Ser784=) rs774701000
NM_017617.5(NOTCH1):c.2354-5T>C rs371944522
NM_017617.5(NOTCH1):c.2355T>C (p.Gly785=) rs199719103
NM_017617.5(NOTCH1):c.2359A>G (p.Asn787Asp) rs199672693
NM_017617.5(NOTCH1):c.2365C>T (p.Gln789Ter) rs1554729118
NM_017617.5(NOTCH1):c.236G>A (p.Arg79His) rs768517628
NM_017617.5(NOTCH1):c.2380G>T (p.Glu794Ter) rs1554729113
NM_017617.5(NOTCH1):c.2388G>A (p.Ala796=) rs561956078
NM_017617.5(NOTCH1):c.2425G>A (p.Asp809Asn) rs762729988
NM_017617.5(NOTCH1):c.2433C>T (p.Ala811=) rs61751552
NM_017617.5(NOTCH1):c.2442G>A (p.Lys814=) rs544653892
NM_017617.5(NOTCH1):c.2448dup (p.Cys817fs) rs1589064285
NM_017617.5(NOTCH1):c.244G>A (p.Val82Met) rs571831870
NM_017617.5(NOTCH1):c.244G>T (p.Val82Leu) rs571831870
NM_017617.5(NOTCH1):c.2458C>T (p.Pro820Ser) rs1379596542
NM_017617.5(NOTCH1):c.2467+7G>T
NM_017617.5(NOTCH1):c.2474C>T (p.Thr825Met)
NM_017617.5(NOTCH1):c.2495C>T (p.Pro832Leu) rs559917218
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.2501C>T (p.Ala834Val) rs202144877
NM_017617.5(NOTCH1):c.2503C>T (p.Pro835Ser) rs377353441
NM_017617.5(NOTCH1):c.2505C>A (p.Pro835=) rs111756273
NM_017617.5(NOTCH1):c.2511C>T (p.Pro837=) rs201521828
NM_017617.5(NOTCH1):c.2520_2522CGG[1] (p.Gly842del)
NM_017617.5(NOTCH1):c.2527G>A (p.Glu843Lys)
NM_017617.5(NOTCH1):c.2541C>T (p.Ser847=) rs763472606
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.256G>T (p.Ala86Ser) rs373941045
NM_017617.5(NOTCH1):c.2576C>T (p.Thr859Met) rs199505287
NM_017617.5(NOTCH1):c.2577G>A (p.Thr859=)
NM_017617.5(NOTCH1):c.2580C>T (p.Gly860=)
NM_017617.5(NOTCH1):c.2588-9G>T rs757973986
NM_017617.5(NOTCH1):c.2604C>T (p.Val868=) rs115235667
NM_017617.5(NOTCH1):c.2611A>G (p.Asn871Asp) rs200235006
NM_017617.5(NOTCH1):c.2620G>A (p.Val874Ile)
NM_017617.5(NOTCH1):c.2635C>T (p.Arg879Trp) rs587778563
NM_017617.5(NOTCH1):c.2636G>A (p.Arg879Gln) rs368011392
NM_017617.5(NOTCH1):c.2636G>T (p.Arg879Leu) rs368011392
NM_017617.5(NOTCH1):c.263G>A (p.Ser88Asn) rs191357265
NM_017617.5(NOTCH1):c.2640C>T (p.His880=) rs374946182
NM_017617.5(NOTCH1):c.2644G>A (p.Ala882Thr)
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.2665G>A (p.Gly889Ser) rs557590721
NM_017617.5(NOTCH1):c.2666G>T (p.Gly889Val) rs1554728783
NM_017617.5(NOTCH1):c.2674C>T (p.Arg892Cys) rs578228721
NM_017617.5(NOTCH1):c.2691C>T (p.Ala897=) rs11574895
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.2704C>T (p.Arg902Cys) rs1448345366
NM_017617.5(NOTCH1):c.2710T>C (p.Cys904Arg)
NM_017617.5(NOTCH1):c.2712C>T (p.Cys904=) rs369645726
NM_017617.5(NOTCH1):c.2718C>T (p.Thr906=) rs200243788
NM_017617.5(NOTCH1):c.2724C>T (p.Ile908=) rs61751547
NM_017617.5(NOTCH1):c.2725G>A (p.Asp909Asn) rs763217096
NM_017617.5(NOTCH1):c.2727C>T (p.Asp909=) rs752854629
NM_017617.5(NOTCH1):c.2728G>A (p.Asp910Asn) rs765293859
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp) rs201620358
NM_017617.5(NOTCH1):c.2735G>A (p.Arg912Gln)
NM_017617.5(NOTCH1):c.2743C>G (p.Pro915Ala) rs878855024
NM_017617.5(NOTCH1):c.2744C>T (p.Pro915Leu) rs755058802
NM_017617.5(NOTCH1):c.2745G>A (p.Pro915=) rs766331471
NM_017617.5(NOTCH1):c.274G>C (p.Gly92Arg) rs1397413424
NM_017617.5(NOTCH1):c.2753A>G (p.Asn918Ser) rs367586502
NM_017617.5(NOTCH1):c.2769A>G (p.Thr923=) rs201985795
NM_017617.5(NOTCH1):c.2784G>A (p.Thr928=) rs200082362
NM_017617.5(NOTCH1):c.2805C>T (p.Pro935=) rs200332386
NM_017617.5(NOTCH1):c.2806G>A (p.Gly936Ser) rs773847667
NM_017617.5(NOTCH1):c.2813G>A (p.Arg938Gln) rs35962301
NM_017617.5(NOTCH1):c.2849C>T (p.Ala950Val)
NM_017617.5(NOTCH1):c.2863C>T (p.Arg955Cys) rs370797169
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.2869G>A (p.Gly957Arg)
NM_017617.5(NOTCH1):c.2882C>T (p.Thr961Met) rs377343669
NM_017617.5(NOTCH1):c.2908A>G (p.Thr970Ala) rs201053795
NM_017617.5(NOTCH1):c.2917G>A (p.Ala973Thr) rs200699541
NM_017617.5(NOTCH1):c.2950A>G (p.Thr984Ala)
NM_017617.5(NOTCH1):c.2951C>T (p.Thr984Met) rs769132985
NM_017617.5(NOTCH1):c.2963C>T (p.Thr988Ile)
NM_017617.5(NOTCH1):c.2970-9C>T rs568052902
NM_017617.5(NOTCH1):c.2982C>T (p.Asn994=) rs374100421
NM_017617.5(NOTCH1):c.2983G>A (p.Gly995Ser) rs868369610
NM_017617.5(NOTCH1):c.3001G>A (p.Gly1001Ser) rs763621169
NM_017617.5(NOTCH1):c.3011C>T (p.Ser1004Leu) rs201163739
NM_017617.5(NOTCH1):c.3017C>T (p.Thr1006Ile)
NM_017617.5(NOTCH1):c.301C>A (p.Pro101Thr) rs746491686
NM_017617.5(NOTCH1):c.3034G>A (p.Gly1012Ser) rs776957107
NM_017617.5(NOTCH1):c.3040A>T (p.Thr1014Ser)
NM_017617.5(NOTCH1):c.3042G>A (p.Thr1014=) rs371532644
NM_017617.5(NOTCH1):c.3076G>A (p.Asp1026Asn)
NM_017617.5(NOTCH1):c.3095A>G (p.His1032Arg)
NM_017617.5(NOTCH1):c.3100G>A (p.Gly1034Ser) rs981281975
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.3114C>T (p.Asp1038=) rs769755236
NM_017617.5(NOTCH1):c.3115G>A (p.Gly1039Ser) rs200207651
NM_017617.5(NOTCH1):c.3118T>C (p.Cys1040Arg) rs1060502235
NM_017617.5(NOTCH1):c.311A>G (p.Asn104Ser) rs199654211
NM_017617.5(NOTCH1):c.3121G>A (p.Gly1041Ser)
NM_017617.5(NOTCH1):c.3140G>A (p.Cys1047Tyr)
NM_017617.5(NOTCH1):c.3150C>A (p.Gly1050=) rs1060504523
NM_017617.5(NOTCH1):c.3165C>A (p.Asn1055Lys)
NM_017617.5(NOTCH1):c.3171+9G>A rs377541723
NM_017617.5(NOTCH1):c.3181C>T (p.His1061Tyr)
NM_017617.5(NOTCH1):c.3190G>A (p.Asp1064Asn) rs375931404
NM_017617.5(NOTCH1):c.3198G>A (p.Ser1066=) rs199892488
NM_017617.5(NOTCH1):c.3210C>T (p.Asn1070=) rs768144709
NM_017617.5(NOTCH1):c.3221G>A (p.Cys1074Tyr)
NM_017617.5(NOTCH1):c.3244C>T (p.Arg1082Cys)
NM_017617.5(NOTCH1):c.3245G>A (p.Arg1082His) rs758471372
NM_017617.5(NOTCH1):c.3245G>T (p.Arg1082Leu) rs758471372
NM_017617.5(NOTCH1):c.3249C>T (p.Cys1083=) rs139994842
NM_017617.5(NOTCH1):c.3250G>C (p.Glu1084Gln) rs766361207
NM_017617.5(NOTCH1):c.3266G>A (p.Trp1089Ter) rs1554728428
NM_017617.5(NOTCH1):c.3269C>G (p.Thr1090Ser) rs761508282
NM_017617.5(NOTCH1):c.3270C>T (p.Thr1090=) rs773990513
NM_017617.5(NOTCH1):c.3271G>A (p.Gly1091Ser) rs768095251
NM_017617.5(NOTCH1):c.3281G>A (p.Cys1094Tyr) rs1554728424
NM_017617.5(NOTCH1):c.3288G>C (p.Val1096=) rs374944458
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.3320G>A (p.Arg1107Gln) rs756087913
NM_017617.5(NOTCH1):c.3333C>T (p.Asp1111=) rs61751545
NM_017617.5(NOTCH1):c.3334G>A (p.Val1112Ile) rs370696201
NM_017617.5(NOTCH1):c.3338C>T (p.Ala1113Val) rs377351349
NM_017617.5(NOTCH1):c.3341G>A (p.Arg1114His) rs777684045
NM_017617.5(NOTCH1):c.3363C>G (p.Leu1121=)
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.3373G>A (p.Ala1125Thr) rs767963898
NM_017617.5(NOTCH1):c.3374C>T (p.Ala1125Val) rs200871631
NM_017617.5(NOTCH1):c.3384G>A (p.Thr1128=) rs200608278
NM_017617.5(NOTCH1):c.3401A>G (p.Gln1134Arg) rs374230681
NM_017617.5(NOTCH1):c.3403G>A (p.Ala1135Thr) rs1554728380
NM_017617.5(NOTCH1):c.3405G>A (p.Ala1135=) rs192914380
NM_017617.5(NOTCH1):c.3417C>T (p.Gly1139=) rs753526994
NM_017617.5(NOTCH1):c.3442G>A (p.Glu1148Lys) rs1060502239
NM_017617.5(NOTCH1):c.3455G>C (p.Ser1152Thr)
NM_017617.5(NOTCH1):c.3456C>A (p.Ser1152Arg)
NM_017617.5(NOTCH1):c.3468C>T (p.Asn1156=) rs199793164
NM_017617.5(NOTCH1):c.3469G>A (p.Gly1157Arg) rs549630973
NM_017617.5(NOTCH1):c.3496G>A (p.Gly1166Ser)
NM_017617.5(NOTCH1):c.3510+3G>A rs372739350
NM_017617.5(NOTCH1):c.3511-10G>A rs139838537
NM_017617.5(NOTCH1):c.3528C>T (p.His1176=) rs202133782
NM_017617.5(NOTCH1):c.3553G>A (p.Asp1185Asn) rs548083258
NM_017617.5(NOTCH1):c.3555C>T (p.Asp1185=) rs530064649
NM_017617.5(NOTCH1):c.3569A>G (p.His1190Arg) rs775438678
NM_017617.5(NOTCH1):c.3582C>T (p.Asn1194=) rs746547529
NM_017617.5(NOTCH1):c.3583G>A (p.Gly1195Arg)
NM_017617.5(NOTCH1):c.3597C>T (p.Leu1199=) rs150666307
NM_017617.5(NOTCH1):c.3598G>A (p.Asp1200Asn) rs544640305
NM_017617.5(NOTCH1):c.3631C>T (p.Arg1211Trp) rs766644919
NM_017617.5(NOTCH1):c.3632G>A (p.Arg1211Gln) rs756362905
NM_017617.5(NOTCH1):c.3642G>A (p.Gln1214=) rs577243605
NM_017617.5(NOTCH1):c.3644-4G>A rs376161552
NM_017617.5(NOTCH1):c.3644-5C>T rs371070297
NM_017617.5(NOTCH1):c.3664G>A (p.Val1222Met) rs112900950
NM_017617.5(NOTCH1):c.3679C>T (p.Pro1227Ser) rs777652834
NM_017617.5(NOTCH1):c.3685G>A (p.Val1229Ile)
NM_017617.5(NOTCH1):c.368C>T (p.Thr123Met) rs187473846
NM_017617.5(NOTCH1):c.3694G>A (p.Val1232Met) rs750169914
NM_017617.5(NOTCH1):c.3700C>T (p.Arg1234Trp)
NM_017617.5(NOTCH1):c.3706C>T (p.Pro1236Ser) rs749988739
NM_017617.5(NOTCH1):c.3715T>C (p.Phe1239Leu)
NM_017617.5(NOTCH1):c.3741G>C (p.Gln1247His) rs781658171
NM_017617.5(NOTCH1):c.3767C>T (p.Pro1256Leu) rs80340744
NM_017617.5(NOTCH1):c.376A>G (p.Lys126Glu) rs1589072528
NM_017617.5(NOTCH1):c.3780G>C (p.Val1260=) rs201354526
NM_017617.5(NOTCH1):c.3788G>A (p.Arg1263His) rs377594681
NM_017617.5(NOTCH1):c.3807C>T (p.Asn1269=) rs1008389563
NM_017617.5(NOTCH1):c.3829G>A (p.Asp1277Asn) rs550872754
NM_017617.5(NOTCH1):c.382C>T (p.Arg128Cys) rs371868900
NM_017617.5(NOTCH1):c.3831C>T (p.Asp1277=) rs374989581
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.3859C>T (p.Arg1287Cys)
NM_017617.5(NOTCH1):c.3860G>A (p.Arg1287His) rs763679772
NM_017617.5(NOTCH1):c.3874C>T (p.His1292Tyr) rs372348365
NM_017617.5(NOTCH1):c.3887G>A (p.Arg1296His) rs368400902
NM_017617.5(NOTCH1):c.3901+10G>A rs561404862
NM_017617.5(NOTCH1):c.3901+3G>A rs373113999
NM_017617.5(NOTCH1):c.3901G>A (p.Gly1301Arg) rs1227711223
NM_017617.5(NOTCH1):c.3908G>A (p.Arg1303His) rs768775024
NM_017617.5(NOTCH1):c.390G>A (p.Pro130=) rs61751559
NM_017617.5(NOTCH1):c.3918C>T (p.Ser1306=) rs770781173
NM_017617.5(NOTCH1):c.3954T>A (p.Asn1318Lys) rs754634957
NM_017617.5(NOTCH1):c.3966C>T (p.Cys1322=) rs753290862
NM_017617.5(NOTCH1):c.3970G>A (p.Val1324Met) rs149057410
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.3985G>A (p.Ala1329Thr)
NM_017617.5(NOTCH1):c.4010C>G (p.Pro1337Arg) rs1043832212
NM_017617.5(NOTCH1):c.4014G>A (p.Ala1338=) rs377217445
NM_017617.5(NOTCH1):c.4015-7C>T rs761783451
NM_017617.5(NOTCH1):c.4016G>C (p.Gly1339Ala) rs1131692021
NM_017617.5(NOTCH1):c.4024G>A (p.Gly1342Ser) rs748933222
NM_017617.5(NOTCH1):c.4027G>A (p.Ala1343Thr) rs369654090
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.4046C>T (p.Ala1349Val) rs752951296
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.4056C>T (p.Cys1352=) rs200099319
NM_017617.5(NOTCH1):c.4064T>C (p.Leu1355Pro) rs1589059022
NM_017617.5(NOTCH1):c.4066C>T (p.Arg1356Cys) rs587778567
NM_017617.5(NOTCH1):c.4067G>A (p.Arg1356His) rs864622727
NM_017617.5(NOTCH1):c.4071C>A (p.Cys1357Ter) rs1564191302
NM_017617.5(NOTCH1):c.4074C>T (p.Leu1358=) rs762830852
NM_017617.5(NOTCH1):c.4077C>T (p.Asn1359=) rs775108554
NM_017617.5(NOTCH1):c.4095C>T (p.Ser1365=) rs202023240
NM_017617.5(NOTCH1):c.4096G>A (p.Gly1366Ser) rs778270588
NM_017617.5(NOTCH1):c.4120T>C (p.Cys1374Arg) rs864622060
NM_017617.5(NOTCH1):c.4127del (p.Gly1376fs) rs1589058964
NM_017617.5(NOTCH1):c.4129C>T (p.Pro1377Ser) rs61751542
NM_017617.5(NOTCH1):c.4136C>T (p.Thr1379Met)
NM_017617.5(NOTCH1):c.4137G>A (p.Thr1379=) rs762733162
NM_017617.5(NOTCH1):c.4141C>T (p.Pro1381Ser) rs1589058950
NM_017617.5(NOTCH1):c.4157C>T (p.Pro1386Leu) rs367710569
NM_017617.5(NOTCH1):c.415C>T (p.Gln139Ter) rs1554730670
NM_017617.5(NOTCH1):c.4168C>A (p.Pro1390Thr) rs191645600
NM_017617.5(NOTCH1):c.4197C>T (p.Asn1399=) rs989398598
NM_017617.5(NOTCH1):c.4222G>A (p.Glu1408Lys) rs587778569
NM_017617.5(NOTCH1):c.4222G>T (p.Glu1408Ter) rs587778569
NM_017617.5(NOTCH1):c.4237C>A (p.Arg1413Ser) rs1348438354
NM_017617.5(NOTCH1):c.4238G>A (p.Arg1413His) rs371068504
NM_017617.5(NOTCH1):c.4241G>C (p.Cys1414Ser) rs1554728005
NM_017617.5(NOTCH1):c.4252G>A (p.Ala1418Thr)
NM_017617.5(NOTCH1):c.4262A>G (p.Asn1421Ser) rs76473337
NM_017617.5(NOTCH1):c.4263C>T (p.Asn1421=) rs547687521
NM_017617.5(NOTCH1):c.4271T>C (p.Leu1424Ser) rs954507677
NM_017617.5(NOTCH1):c.4282C>G (p.Leu1428Val) rs1363126385
NM_017617.5(NOTCH1):c.428C>T (p.Pro143Leu)
NM_017617.5(NOTCH1):c.4290C>T (p.Tyr1430=) rs78857347
NM_017617.5(NOTCH1):c.4307C>T (p.Ala1436Val) rs371303106
NM_017617.5(NOTCH1):c.4313G>A (p.Arg1438His) rs61751541
NM_017617.5(NOTCH1):c.4314C>T (p.Arg1438=) rs757256477
NM_017617.5(NOTCH1):c.4315G>A (p.Asp1439Asn)
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>T (p.Ile1445=) rs373960609
NM_017617.5(NOTCH1):c.4336G>A (p.Glu1446Lys) rs1198437870
NM_017617.5(NOTCH1):c.4348G>A (p.Glu1450Lys) rs147841035
NM_017617.5(NOTCH1):c.4372G>A (p.Ala1458Thr) rs200495793
NM_017617.5(NOTCH1):c.4374G>A (p.Ala1458=) rs777768691
NM_017617.5(NOTCH1):c.4407C>T (p.Asn1469=) rs202231073
NM_017617.5(NOTCH1):c.4412C>T (p.Ala1471Val) rs376799353
NM_017617.5(NOTCH1):c.4413G>A (p.Ala1471=) rs756867304
NM_017617.5(NOTCH1):c.4417G>A (p.Gly1473Ser) rs763685504
NM_017617.5(NOTCH1):c.4451A>G (p.Asn1484Ser) rs759828439
NM_017617.5(NOTCH1):c.4467C>T (p.Asn1489=) rs773323801
NM_017617.5(NOTCH1):c.4468T>G (p.Cys1490Gly)
NM_017617.5(NOTCH1):c.4472C>T (p.Thr1491Met) rs369915496
NM_017617.5(NOTCH1):c.4487G>A (p.Cys1496Tyr) rs587781259
NM_017617.5(NOTCH1):c.448G>A (p.Ala150Thr)
NM_017617.5(NOTCH1):c.4492A>G (p.Lys1498Glu) rs745681787
NM_017617.5(NOTCH1):c.4506C>T (p.Asp1502=) rs751191827
NM_017617.5(NOTCH1):c.4507G>C (p.Gly1503Arg) rs1243264280
NM_017617.5(NOTCH1):c.4513T>C (p.Cys1505Arg)
NM_017617.5(NOTCH1):c.452A>G (p.Asn151Ser) rs766362765
NM_017617.5(NOTCH1):c.4536C>T (p.Ala1512=) rs61751540
NM_017617.5(NOTCH1):c.4548C>T (p.Phe1516=) rs199740882
NM_017617.5(NOTCH1):c.4549G>A (p.Asp1517Asn) rs1554727954
NM_017617.5(NOTCH1):c.454G>A (p.Gly152Ser) rs750242131
NM_017617.5(NOTCH1):c.4551C>T (p.Asp1517=) rs766737406
NM_017617.5(NOTCH1):c.4568G>A (p.Arg1523His)
NM_017617.5(NOTCH1):c.4587-10dup rs766780122
NM_017617.5(NOTCH1):c.4626C>T (p.Asp1542=) rs142375989
NM_017617.5(NOTCH1):c.4635C>T (p.Cys1545=) rs775752102
NM_017617.5(NOTCH1):c.4640A>G (p.Gln1547Arg) rs1055806143
NM_017617.5(NOTCH1):c.4653C>T (p.Ser1551=) rs368495371
NM_017617.5(NOTCH1):c.4654G>A (p.Ala1552Thr) rs1438164851
NM_017617.5(NOTCH1):c.4655C>T (p.Ala1552Val) rs748862853
NM_017617.5(NOTCH1):c.4656G>A (p.Ala1552=) rs375091696
NM_017617.5(NOTCH1):c.4663G>A (p.Glu1555Lys) rs746342893
NM_017617.5(NOTCH1):c.4663G>T (p.Glu1555Ter) rs746342893
NM_017617.5(NOTCH1):c.4686G>A (p.Ala1562=) rs1392196185
NM_017617.5(NOTCH1):c.4698C>T (p.Pro1566=) rs200462746
NM_017617.5(NOTCH1):c.4699G>A (p.Glu1567Lys) rs1333725995
NM_017617.5(NOTCH1):c.4710G>A (p.Ala1570=) rs773978978
NM_017617.5(NOTCH1):c.4717A>G (p.Thr1573Ala)
NM_017617.5(NOTCH1):c.4718C>T (p.Thr1573Met) rs573864607
NM_017617.5(NOTCH1):c.4739dup (p.Met1580fs) rs864622061
NM_017617.5(NOTCH1):c.4758_4759insCA (p.Asn1587fs)
NM_017617.5(NOTCH1):c.4761C>T (p.Asn1587=) rs777947269
NM_017617.5(NOTCH1):c.4765T>C (p.Ser1589Pro)
NM_017617.5(NOTCH1):c.4790G>T (p.Ser1597Ile) rs1564190486
NM_017617.5(NOTCH1):c.4793G>A (p.Arg1598His) rs755124691
NM_017617.5(NOTCH1):c.4795G>A (p.Val1599Met) rs543770603
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.4828G>T (p.Ala1610Ser) rs369467132
NM_017617.5(NOTCH1):c.4829C>T (p.Ala1610Val) rs1554727837
NM_017617.5(NOTCH1):c.4860C>T (p.Tyr1620=) rs375196212
NM_017617.5(NOTCH1):c.4880G>A (p.Arg1627His) rs946083212
NM_017617.5(NOTCH1):c.4887C>T (p.His1629=) rs61751539
NM_017617.5(NOTCH1):c.4908G>T (p.Glu1636Asp)
NM_017617.5(NOTCH1):c.4915G>A (p.Ala1639Thr) rs878855026
NM_017617.5(NOTCH1):c.4917C>T (p.Ala1639=) rs371365065
NM_017617.5(NOTCH1):c.4918G>A (p.Ala1640Thr) rs976118697
NM_017617.5(NOTCH1):c.4930C>T (p.Leu1644=) rs568700183
NM_017617.5(NOTCH1):c.4952C>T (p.Ser1651Leu) rs1243453790
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.4984C>T (p.Arg1662Trp)
NM_017617.5(NOTCH1):c.4985G>A (p.Arg1662Gln) rs774808496
NM_017617.5(NOTCH1):c.4988G>A (p.Arg1663Gln) rs749490844
NM_017617.5(NOTCH1):c.4C>G (p.Pro2Ala) rs975429231
NM_017617.5(NOTCH1):c.5011G>A (p.Val1671Ile) rs2229968
NM_017617.5(NOTCH1):c.5015G>A (p.Arg1672His) rs372830543
NM_017617.5(NOTCH1):c.5017G>A (p.Gly1673Ser) rs1226514285
NM_017617.5(NOTCH1):c.5019-13_5019-10del rs374419074
NM_017617.5(NOTCH1):c.5019-6G>A rs978561896
NM_017617.5(NOTCH1):c.5019-9T>C rs1589057393
NM_017617.5(NOTCH1):c.5019C>G (p.Gly1673=)
NM_017617.5(NOTCH1):c.501A>T (p.Pro167=) rs1554730657
NM_017617.5(NOTCH1):c.5023A>G (p.Ile1675Val) rs375408767
NM_017617.5(NOTCH1):c.5026G>A (p.Val1676Ile)
NM_017617.5(NOTCH1):c.5069C>T (p.Ser1690Leu) rs552065719
NM_017617.5(NOTCH1):c.5073G>A (p.Gln1691=) rs61751538
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>A (p.Ser1708=) rs35980907
NM_017617.5(NOTCH1):c.5124G>T (p.Ser1708=) rs35980907
NM_017617.5(NOTCH1):c.5168-10G>A rs199903655
NM_017617.5(NOTCH1):c.5168-4G>A rs751709616
NM_017617.5(NOTCH1):c.5175C>T (p.Thr1725=) rs61751536
NM_017617.5(NOTCH1):c.5181G>T (p.Glu1727Asp)
NM_017617.5(NOTCH1):c.5189C>T (p.Pro1730Leu) rs375897519
NM_017617.5(NOTCH1):c.5190G>A (p.Pro1730=) rs369854704
NM_017617.5(NOTCH1):c.5193G>A (p.Pro1731=) rs773981674
NM_017617.5(NOTCH1):c.5195C>T (p.Ala1732Val) rs768040014
NM_017617.5(NOTCH1):c.5201T>A (p.Leu1734Gln)
NM_017617.5(NOTCH1):c.5218G>T (p.Ala1740Ser) rs864622062
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.5248G>A (p.Val1750Met)
NM_017617.5(NOTCH1):c.5272C>G (p.Arg1758Gly) rs777859108
NM_017617.5(NOTCH1):c.5273G>A (p.Arg1758His) rs373841359
NM_017617.5(NOTCH1):c.527G>A (p.Arg176Gln) rs375065108
NM_017617.5(NOTCH1):c.527_528delinsTT (p.Arg176Leu) rs1564203258
NM_017617.5(NOTCH1):c.5282G>A (p.Arg1761Gln) rs750318685
NM_017617.5(NOTCH1):c.5284C>T (p.Arg1762Trp) rs1356199208
NM_017617.5(NOTCH1):c.5285G>A (p.Arg1762Gln) rs942439472
NM_017617.5(NOTCH1):c.5296C>A (p.Gln1766Lys)
NM_017617.5(NOTCH1):c.5301C>T (p.Leu1767=) rs372154581
NM_017617.5(NOTCH1):c.5307C>T (p.Phe1769=) rs1400804279
NM_017617.5(NOTCH1):c.5333C>G (p.Ala1778Gly)
NM_017617.5(NOTCH1):c.5344A>C (p.Lys1782Gln) rs1188095516
NM_017617.5(NOTCH1):c.5350C>T (p.Arg1784Trp)
NM_017617.5(NOTCH1):c.5356C>T (p.Pro1786Ser)
NM_017617.5(NOTCH1):c.5361C>T (p.Leu1787=) rs760147171
NM_017617.5(NOTCH1):c.5362G>A (p.Gly1788Ser)
NM_017617.5(NOTCH1):c.5365G>A (p.Glu1789Lys) rs1198855127
NM_017617.5(NOTCH1):c.5373C>T (p.Ser1791=) rs777013344
NM_017617.5(NOTCH1):c.5384+10C>T rs748380110
NM_017617.5(NOTCH1):c.5384+6C>T rs747363366
NM_017617.5(NOTCH1):c.5397C>T (p.Asn1799=) rs761147379
NM_017617.5(NOTCH1):c.5398G>A (p.Ala1800Thr) rs569203312
NM_017617.5(NOTCH1):c.5407G>A (p.Gly1803Ser) rs369526652
NM_017617.5(NOTCH1):c.5414T>C (p.Leu1805Pro) rs201779159
NM_017617.5(NOTCH1):c.5416A>G (p.Met1806Val) rs114479009
NM_017617.5(NOTCH1):c.5418G>A (p.Met1806Ile) rs556708225
NM_017617.5(NOTCH1):c.5421C>T (p.Asp1807=) rs376590737
NM_017617.5(NOTCH1):c.5423A>G (p.Asp1808Gly) rs1589056398
NM_017617.5(NOTCH1):c.5438G>T (p.Trp1813Leu) rs755659037
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.5471G>A (p.Arg1824Gln) rs765309913
NM_017617.5(NOTCH1):c.5476G>A (p.Glu1826Lys)
NM_017617.5(NOTCH1):c.547G>C (p.Gly183Arg)
NM_017617.5(NOTCH1):c.5492T>C (p.Leu1831Pro) rs1085307869
NM_017617.5(NOTCH1):c.5499C>T (p.Asp1833=) rs754075361
NM_017617.5(NOTCH1):c.5500C>G (p.Leu1834Val) rs73668312
NM_017617.5(NOTCH1):c.5500C>T (p.Leu1834=) rs73668312
NM_017617.5(NOTCH1):c.5505C>T (p.Asp1835=) rs760776152
NM_017617.5(NOTCH1):c.5506G>A (p.Asp1836Asn) rs200100726
NM_017617.5(NOTCH1):c.550C>T (p.Gln184Ter) rs1589072024
NM_017617.5(NOTCH1):c.5535_5536delinsAA (p.Gln1846Lys) rs878855027
NM_017617.5(NOTCH1):c.5540A>C (p.His1847Pro)
NM_017617.5(NOTCH1):c.5550C>T (p.Ala1850=) rs374451515
NM_017617.5(NOTCH1):c.5560C>T (p.Arg1854Cys) rs376689092
NM_017617.5(NOTCH1):c.5561G>A (p.Arg1854His) rs878855028
NM_017617.5(NOTCH1):c.5572A>C (p.Met1858Leu) rs779337715
NM_017617.5(NOTCH1):c.558C>T (p.Pro186=) rs756111268
NM_017617.5(NOTCH1):c.5604C>T (p.Asp1868=) rs370916730
NM_017617.5(NOTCH1):c.5605G>A (p.Ala1869Thr)
NM_017617.5(NOTCH1):c.5605G>T (p.Ala1869Ser) rs200603539
NM_017617.5(NOTCH1):c.5608G>A (p.Asp1870Asn)
NM_017617.5(NOTCH1):c.5631C>T (p.Arg1877=) rs35627681
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.5690C>T (p.Thr1897Met) rs746237272
NM_017617.5(NOTCH1):c.5698A>G (p.Ser1900Gly) rs200190466
NM_017617.5(NOTCH1):c.5716G>A (p.Ala1906Thr) rs779880917
NM_017617.5(NOTCH1):c.5718G>A (p.Ala1906=) rs369730620
NM_017617.5(NOTCH1):c.5720C>T (p.Pro1907Leu)
NM_017617.5(NOTCH1):c.5725G>A (p.Val1909Ile)
NM_017617.5(NOTCH1):c.5768A>G (p.Gln1923Arg)
NM_017617.5(NOTCH1):c.5776C>T (p.Arg1926Cys) rs199652954
NM_017617.5(NOTCH1):c.5777G>A (p.Arg1926His) rs771407924
NM_017617.5(NOTCH1):c.5780C>T (p.Thr1927Met) rs1554826860
NM_017617.5(NOTCH1):c.5781G>A (p.Thr1927=) rs367587437
NM_017617.5(NOTCH1):c.5784C>T (p.Gly1928=) rs773571672
NM_017617.5(NOTCH1):c.5804C>T (p.Ala1935Val) rs374787627
NM_017617.5(NOTCH1):c.580A>C (p.Thr194Pro) rs770333242
NM_017617.5(NOTCH1):c.581C>T (p.Thr194Ile)
NM_017617.5(NOTCH1):c.5829C>A (p.Ala1943=) rs1036442909
NM_017617.5(NOTCH1):c.5830G>A (p.Ala1944Thr) rs371414501
NM_017617.5(NOTCH1):c.5836C>T (p.Arg1946Cys)
NM_017617.5(NOTCH1):c.5837G>A (p.Arg1946His)
NM_017617.5(NOTCH1):c.5853C>T (p.Ser1951=) rs373902356
NM_017617.5(NOTCH1):c.5901G>A (p.Ala1967=) rs762092431
NM_017617.5(NOTCH1):c.5905G>A (p.Val1969Met)
NM_017617.5(NOTCH1):c.5916C>T (p.Asp1972=) rs1045892978
NM_017617.5(NOTCH1):c.591C>T (p.Asn197=) rs370684825
NM_017617.5(NOTCH1):c.5934+8G>A rs747822127
NM_017617.5(NOTCH1):c.5965G>A (p.Asp1989Asn) rs587777734
NM_017617.5(NOTCH1):c.5967T>C (p.Asp1989=) rs73668311
NM_017617.5(NOTCH1):c.5971C>T (p.Arg1991Cys) rs759553984
NM_017617.5(NOTCH1):c.5972G>A (p.Arg1991His) rs1371022203
NM_017617.5(NOTCH1):c.5981A>G (p.Asp1994Gly) rs1454512890
NM_017617.5(NOTCH1):c.5987C>T (p.Thr1996Met) rs773137647
NM_017617.5(NOTCH1):c.5988G>A (p.Thr1996=) rs186453356
NM_017617.5(NOTCH1):c.6010C>T (p.Arg2004Cys) rs1589054589
NM_017617.5(NOTCH1):c.6027C>T (p.Gly2009=) rs1232741465
NM_017617.5(NOTCH1):c.6049_6050del (p.Ser2017fs) rs864622063
NM_017617.5(NOTCH1):c.6054C>T (p.His2018=) rs202198360
NM_017617.5(NOTCH1):c.6057C>T (p.Ala2019=) rs758702512
NM_017617.5(NOTCH1):c.6058G>A (p.Asp2020Asn) rs752928106
NM_017617.5(NOTCH1):c.6061G>A (p.Val2021Ile) rs759643831
NM_017617.5(NOTCH1):c.6082+5G>A rs1280026920
NM_017617.5(NOTCH1):c.6083-5C>T rs199786076
NM_017617.5(NOTCH1):c.608G>A (p.Arg203His) rs182763411
NM_017617.5(NOTCH1):c.6090C>T (p.Ser2030=) rs773621396
NM_017617.5(NOTCH1):c.6100T>C (p.Trp2034Arg) rs1554826698
NM_017617.5(NOTCH1):c.6105C>T (p.Ala2035=) rs188357478
NM_017617.5(NOTCH1):c.6106G>A (p.Ala2036Thr)
NM_017617.5(NOTCH1):c.6108C>T (p.Ala2036=) rs369167693
NM_017617.5(NOTCH1):c.6109G>T (p.Ala2037Ser) rs1060502237
NM_017617.5(NOTCH1):c.6111C>T (p.Ala2037=) rs749488166
NM_017617.5(NOTCH1):c.6120T>C (p.Asn2040=) rs201625763
NM_017617.5(NOTCH1):c.6128C>T (p.Ala2043Val) rs1554826688
NM_017617.5(NOTCH1):c.6130G>A (p.Ala2044Thr) rs544856644
NM_017617.5(NOTCH1):c.6149A>G (p.Asn2050Ser) rs759344174
NM_017617.5(NOTCH1):c.6152G>C (p.Gly2051Ala) rs1589054356
NM_017617.5(NOTCH1):c.6153G>A (p.Gly2051=) rs1554826678
NM_017617.5(NOTCH1):c.6177C>T (p.Asn2059=) rs992614355
NM_017617.5(NOTCH1):c.6180+9G>A rs200371378
NM_017617.5(NOTCH1):c.6180+9G>T rs200371378
NM_017617.5(NOTCH1):c.62-8C>T rs202023246
NM_017617.5(NOTCH1):c.6205G>A (p.Ala2069Thr) rs567909904
NM_017617.5(NOTCH1):c.620G>A (p.Arg207His)
NM_017617.5(NOTCH1):c.6222C>T (p.Tyr2074=) rs764551640
NM_017617.5(NOTCH1):c.6227C>T (p.Thr2076Ile) rs1022510242
NM_017617.5(NOTCH1):c.6229G>A (p.Ala2077Thr) rs759749364
NM_017617.5(NOTCH1):c.622G>A (p.Ala208Thr) rs745817995
NM_017617.5(NOTCH1):c.6254C>G (p.Ala2085Gly)
NM_017617.5(NOTCH1):c.6265A>G (p.Ile2089Val)
NM_017617.5(NOTCH1):c.6275A>C (p.His2092Pro) rs1554826539
NM_017617.5(NOTCH1):c.6284G>A (p.Arg2095His) rs756874994
NM_017617.5(NOTCH1):c.6291G>A (p.Pro2097=) rs201987555
NM_017617.5(NOTCH1):c.6291G>T (p.Pro2097=) rs201987555
NM_017617.5(NOTCH1):c.6293G>A (p.Arg2098His) rs759998676
NM_017617.5(NOTCH1):c.6310C>T (p.Arg2104Cys) rs1307220376
NM_017617.5(NOTCH1):c.6313A>G (p.Met2105Val) rs748138179
NM_017617.5(NOTCH1):c.632C>G (p.Thr211Ser) rs1401319182
NM_017617.5(NOTCH1):c.6342C>G (p.Asp2114Glu) rs746682300
NM_017617.5(NOTCH1):c.6343G>A (p.Glu2115Lys) rs777219891
NM_017617.5(NOTCH1):c.6351C>A (p.Asn2117Lys)
NM_017617.5(NOTCH1):c.6362G>A (p.Ser2121Asn) rs761054017
NM_017617.5(NOTCH1):c.6363C>T (p.Ser2121=) rs61751533
NM_017617.5(NOTCH1):c.6365C>T (p.Pro2122Leu) rs767587816
NM_017617.5(NOTCH1):c.6375C>G (p.His2125Gln)
NM_017617.5(NOTCH1):c.6375C>T (p.His2125=) rs369009290
NM_017617.5(NOTCH1):c.6376G>A (p.Gly2126Arg) rs572960572
NM_017617.5(NOTCH1):c.6383C>T (p.Pro2128Leu)
NM_017617.5(NOTCH1):c.6384G>A (p.Pro2128=) rs746762310
NM_017617.5(NOTCH1):c.6392G>A (p.Gly2131Asp)
NM_017617.5(NOTCH1):c.6393C>T (p.Gly2131=)
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)
NM_017617.5(NOTCH1):c.6397C>T (p.Pro2133Ser) rs61733294
NM_017617.5(NOTCH1):c.6413C>T (p.Pro2138Leu) rs756571156
NM_017617.5(NOTCH1):c.6422C>T (p.Ser2141Leu) rs767822693
NM_017617.5(NOTCH1):c.6429C>T (p.Asn2143=) rs369845924
NM_017617.5(NOTCH1):c.6454G>C (p.Gly2152Arg) rs116317506
NM_017617.5(NOTCH1):c.6457G>A (p.Val2153Met) rs375073677
NM_017617.5(NOTCH1):c.6463G>A (p.Gly2155Ser) rs1035043614
NM_017617.5(NOTCH1):c.6470A>C (p.Lys2157Thr) rs1564568574
NM_017617.5(NOTCH1):c.6475C>T (p.Arg2159Cys) rs371742334
NM_017617.5(NOTCH1):c.6476G>A (p.Arg2159His) rs1060502233
NM_017617.5(NOTCH1):c.6481C>T (p.Pro2161Ser) rs201518848
NM_017617.5(NOTCH1):c.649C>T (p.Arg217Trp)
NM_017617.5(NOTCH1):c.64C>T (p.Pro22Ser) rs114832250
NM_017617.5(NOTCH1):c.6503G>A (p.Cys2168Tyr) rs1055326153
NM_017617.5(NOTCH1):c.6509G>A (p.Ser2170Asn) rs200254239
NM_017617.5(NOTCH1):c.6517G>A (p.Ala2173Thr) rs1060502234
NM_017617.5(NOTCH1):c.6521A>G (p.Lys2174Arg) rs761602495
NM_017617.5(NOTCH1):c.6532G>A (p.Ala2178Thr) rs1197184303
NM_017617.5(NOTCH1):c.6536G>A (p.Arg2179Gln) rs587778571
NM_017617.5(NOTCH1):c.6564C>A (p.Gly2188=) rs747353119
NM_017617.5(NOTCH1):c.6568C>T (p.Leu2190=) rs1037034230
NM_017617.5(NOTCH1):c.6570G>C (p.Leu2190=) rs200630233
NM_017617.5(NOTCH1):c.6577A>G (p.Ser2193Gly) rs1060502236
NM_017617.5(NOTCH1):c.6582C>T (p.Ser2194=) rs200853719
NM_017617.5(NOTCH1):c.658G>A (p.Val220Met)
NM_017617.5(NOTCH1):c.6593C>T (p.Ser2198Leu) rs761562076
NM_017617.5(NOTCH1):c.6597C>G (p.Pro2199=) rs374640663
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.6685G>A (p.Val2229Met) rs202096917
NM_017617.5(NOTCH1):c.6714C>T (p.Pro2238=) rs201499253
NM_017617.5(NOTCH1):c.6733G>A (p.Gly2245Arg) rs201613894
NM_017617.5(NOTCH1):c.6743A>C (p.Asn2248Thr) rs1554826464
NM_017617.5(NOTCH1):c.6745G>A (p.Val2249Met) rs369457922
NM_017617.5(NOTCH1):c.6748G>A (p.Ala2250Thr)
NM_017617.5(NOTCH1):c.674C>G (p.Ser225Trp) rs553542677
NM_017617.5(NOTCH1):c.6760G>A (p.Glu2254Lys) rs1163673587
NM_017617.5(NOTCH1):c.6769G>A (p.Ala2257Thr) rs587778572
NM_017617.5(NOTCH1):c.6777T>C (p.Gly2259=) rs61751490
NM_017617.5(NOTCH1):c.677C>T (p.Pro226Leu)
NM_017617.5(NOTCH1):c.6784G>A (p.Gly2262Ser) rs780071276
NM_017617.5(NOTCH1):c.6788G>A (p.Arg2263Gln) rs200521815
NM_017617.5(NOTCH1):c.6814C>T (p.Arg2272Cys) rs752505638
NM_017617.5(NOTCH1):c.6822C>A (p.Ser2274=) rs754675254
NM_017617.5(NOTCH1):c.6836C>T (p.Ala2279Val) rs200370953
NM_017617.5(NOTCH1):c.6851C>T (p.Thr2284Ile) rs1341934554
NM_017617.5(NOTCH1):c.6853G>A (p.Val2285Ile) rs61751489
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.6897C>T (p.Gly2299=) rs201643432
NM_017617.5(NOTCH1):c.6898G>A (p.Gly2300Arg) rs587778573
NM_017617.5(NOTCH1):c.691G>A (p.Gly231Ser)
NM_017617.5(NOTCH1):c.6924C>T (p.Cys2308=) rs756653663
NM_017617.5(NOTCH1):c.6937C>T (p.Arg2313Trp) rs374453977
NM_017617.5(NOTCH1):c.6938G>A (p.Arg2313Gln) rs371069660
NM_017617.5(NOTCH1):c.6949G>A (p.Gly2317Ser) rs747022065
NM_017617.5(NOTCH1):c.6975T>C (p.Pro2325=) rs200814776
NM_017617.5(NOTCH1):c.6979C>T (p.Arg2327Trp) rs751007903
NM_017617.5(NOTCH1):c.6980G>A (p.Arg2327Gln) rs202065858
NM_017617.5(NOTCH1):c.6991G>A (p.Ala2331Thr) rs111309246
NM_017617.5(NOTCH1):c.6993A>G (p.Ala2331=) rs1554826428
NM_017617.5(NOTCH1):c.7016C>A (p.Ala2339Asp)
NM_017617.5(NOTCH1):c.7017C>T (p.Ala2339=) rs1342843228
NM_017617.5(NOTCH1):c.701G>A (p.Arg234His) rs150737112
NM_017617.5(NOTCH1):c.702C>T (p.Arg234=) rs1392150131
NM_017617.5(NOTCH1):c.7047G>A (p.Pro2349=) rs775336930
NM_017617.5(NOTCH1):c.7071C>T (p.Ser2357=) rs61751487
NM_017617.5(NOTCH1):c.7072G>A (p.Ala2358Thr)
NM_017617.5(NOTCH1):c.707C>T (p.Thr236Met) rs537766290
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.7115G>A (p.Arg2372Gln) rs373119531
NM_017617.5(NOTCH1):c.711C>T (p.Gly237=) rs61751557
NM_017617.5(NOTCH1):c.7130C>T (p.Pro2377Leu) rs761839390
NM_017617.5(NOTCH1):c.7138G>A (p.Val2380Met) rs769693988
NM_017617.5(NOTCH1):c.7145C>T (p.Thr2382Ile) rs1564567924
NM_017617.5(NOTCH1):c.7161A>T (p.Pro2387=) rs1413339098
NM_017617.5(NOTCH1):c.7172A>T (p.Gln2391Leu)
NM_017617.5(NOTCH1):c.7193A>G (p.Gln2398Arg) rs1564567879
NM_017617.5(NOTCH1):c.7209G>A (p.Gln2403=) rs61751486
NM_017617.5(NOTCH1):c.7223T>C (p.Leu2408Pro) rs767728582
NM_017617.5(NOTCH1):c.7229C>T (p.Pro2410Leu) rs560981171
NM_017617.5(NOTCH1):c.7232_7234CAC[7] (p.Pro2414_Pro2415dup) rs762336270
NM_017617.5(NOTCH1):c.7233A>G (p.Pro2411=) rs11574911
NM_017617.5(NOTCH1):c.7238C>T (p.Pro2413Leu)
NM_017617.5(NOTCH1):c.7250C>T (p.Pro2417Leu) rs370652630
NM_017617.5(NOTCH1):c.7251G>A (p.Pro2417=) rs368498380
NM_017617.5(NOTCH1):c.7279G>A (p.Gly2427Ser) rs370722609
NM_017617.5(NOTCH1):c.7289G>C (p.Gly2430Ala) rs36049318
NM_017617.5(NOTCH1):c.7292G>A (p.Arg2431Gln) rs753752321
NM_017617.5(NOTCH1):c.7298T>C (p.Phe2433Ser) rs201493851
NM_017617.5(NOTCH1):c.7313C>T (p.Pro2438Leu) rs199777870
NM_017617.5(NOTCH1):c.7338G>A (p.Leu2446=) rs35320927
NM_017617.5(NOTCH1):c.7357G>A (p.Val2453Met) rs574436740
NM_017617.5(NOTCH1):c.7363A>G (p.Thr2455Ala) rs536167222
NM_017617.5(NOTCH1):c.7366A>G (p.Ile2456Val) rs777934565
NM_017617.5(NOTCH1):c.7369C>G (p.Leu2457Val) rs61755043
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.7417G>A (p.Val2473Ile) rs1358523874
NM_017617.5(NOTCH1):c.7425C>T (p.Pro2475=) rs772308416
NM_017617.5(NOTCH1):c.743-1G>T rs587777735
NM_017617.5(NOTCH1):c.7431C>T (p.Thr2477=) rs748244353
NM_017617.5(NOTCH1):c.7432G>A (p.Ala2478Thr) rs779039862
NM_017617.5(NOTCH1):c.7449G>A (p.Thr2483=) rs375728200
NM_017617.5(NOTCH1):c.7498C>G (p.His2500Asp) rs763902589
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.7515T>G (p.Pro2505=) rs34152221
NM_017617.5(NOTCH1):c.751G>A (p.Gly251Ser) rs755667439
NM_017617.5(NOTCH1):c.7529T>C (p.Leu2510Pro) rs1554826340
NM_017617.5(NOTCH1):c.752G>A (p.Gly251Asp)
NM_017617.5(NOTCH1):c.7536G>A (p.Pro2512=) rs192299793
NM_017617.5(NOTCH1):c.7541_7542del (p.Pro2514fs) rs763016003
NM_017617.5(NOTCH1):c.7545G>T (p.Glu2515Asp) rs1365732147
NM_017617.5(NOTCH1):c.7569G>A (p.Ser2523=) rs534623042
NM_017617.5(NOTCH1):c.7585G>A (p.Val2529Ile) rs1052013977
NM_017617.5(NOTCH1):c.7606G>A (p.Val2536Ile) rs111627256
NM_017617.5(NOTCH1):c.7631A>G (p.Gln2544Arg) rs764749582
NM_017617.5(NOTCH1):c.7641C>T (p.Ile2547=) rs370124241
NM_017617.5(NOTCH1):c.7648A>G (p.Ile2550Val) rs188270459
NM_017617.5(NOTCH1):c.764A>G (p.Glu255Gly)
NM_017617.5(NOTCH1):c.7653G>A (p.Pro2551=) rs759443061
NM_017617.5(NOTCH1):c.7657G>A (p.Ala2553Thr)
NM_017617.5(NOTCH1):c.775G>A (p.Asp259Asn) rs763187824
NM_017617.5(NOTCH1):c.794_797delinsCC (p.Asn265fs) rs1554730184
NM_017617.5(NOTCH1):c.79C>A (p.Pro27Thr) rs769784635
NM_017617.5(NOTCH1):c.804C>T (p.Asn268=) rs774222164
NM_017617.5(NOTCH1):c.823G>A (p.Gly275Ser) rs371333249
NM_017617.5(NOTCH1):c.825C>T (p.Gly275=) rs61751556
NM_017617.5(NOTCH1):c.826G>A (p.Val276Met) rs369721921
NM_017617.5(NOTCH1):c.839A>G (p.Asn280Ser) rs367825691
NM_017617.5(NOTCH1):c.851C>T (p.Pro284Leu) rs376104770
NM_017617.5(NOTCH1):c.865+4C>T rs527248111
NM_017617.5(NOTCH1):c.866-7C>T rs368001435
NM_017617.5(NOTCH1):c.873C>T (p.Tyr291=) rs143654474
NM_017617.5(NOTCH1):c.879C>T (p.Thr293=) rs370170212
NM_017617.5(NOTCH1):c.892G>C (p.Glu298Gln) rs1060502232
NM_017617.5(NOTCH1):c.912T>C (p.Asn304=) rs1060504522
NM_017617.5(NOTCH1):c.927C>T (p.Gly309=) rs753681098
NM_017617.5(NOTCH1):c.931A>C (p.Thr311Pro) rs202145498
NM_017617.5(NOTCH1):c.961T>C (p.Cys321Arg)
NM_017617.5(NOTCH1):c.963C>T (p.Cys321=) rs201158068
NM_017617.5(NOTCH1):c.975C>T (p.Asn325=) rs746111102
NM_017617.5(NOTCH1):c.999C>T (p.Ser333=) rs751646144
Single allele

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