ClinVar Miner

List of variants in gene NOTCH1 reported as uncertain significance

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 440
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HGVS dbSNP
NM_017617.3(NOTCH1):c.19C>T (p.Pro7Ser) rs1397523469
NM_017617.3(NOTCH1):c.2263_2265delAAT (p.Asn755del) rs587778559
NM_017617.3(NOTCH1):c.2558_2560delTCT (p.Phe853del) rs779164170
NM_017617.3(NOTCH1):c.59G>T (p.Arg20Leu) rs1554733799
NM_017617.3(NOTCH1):c.851C>T (p.Pro284Leu) rs376104770
NM_017617.3(NOTCH1):c.865+4C>T rs527248111
NM_017617.4(NOTCH1):c.20C>T (p.Pro7Leu) rs1554733804
NM_017617.4(NOTCH1):c.825C>T (p.Gly275=) rs61751556
NM_017617.5(NOTCH1):c.*5C>T rs746945124
NM_017617.5(NOTCH1):c.102C>T (p.Gly34=)
NM_017617.5(NOTCH1):c.1077C>T (p.Cys359=) rs202235419
NM_017617.5(NOTCH1):c.1094G>A (p.Arg365His) rs775991013
NM_017617.5(NOTCH1):c.1096A>G (p.Thr366Ala) rs1554730065
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)
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.1220C>T (p.Pro407Leu)
NM_017617.5(NOTCH1):c.1237G>A (p.Val413Met)
NM_017617.5(NOTCH1):c.1250C>T (p.Ser417Leu) rs757631575
NM_017617.5(NOTCH1):c.1256-5G>A rs773981257
NM_017617.5(NOTCH1):c.1262A>G (p.Asn421Ser) rs928512979
NM_017617.5(NOTCH1):c.1277C>G (p.Ala426Gly) rs528033027
NM_017617.5(NOTCH1):c.128C>T (p.Thr43Met) rs371103280
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.1363G>C (p.Glu455Gln) rs1554729950
NM_017617.5(NOTCH1):c.1380G>A (p.Pro460=) rs368963607
NM_017617.5(NOTCH1):c.1441+4C>T rs764082065
NM_017617.5(NOTCH1):c.1441G>C (p.Gly481Arg)
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.1510C>T (p.Arg504Cys) rs752071569
NM_017617.5(NOTCH1):c.1514G>A (p.Cys505Tyr) rs1060502240
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.157G>A (p.Val53Met) rs757497167
NM_017617.5(NOTCH1):c.1582G>A (p.Asp528Asn) rs757988142
NM_017617.5(NOTCH1):c.1664C>T (p.Thr555Met) rs746796894
NM_017617.5(NOTCH1):c.1669+5G>A rs771590616
NM_017617.5(NOTCH1):c.1670-10_1670-9delinsTG rs1060502241
NM_017617.5(NOTCH1):c.1682C>T (p.Thr561Met)
NM_017617.5(NOTCH1):c.1693G>A (p.Val565Met)
NM_017617.5(NOTCH1):c.1699A>G (p.Ile567Val) rs369067940
NM_017617.5(NOTCH1):c.16G>A (p.Ala6Thr)
NM_017617.5(NOTCH1):c.1701C>G (p.Ile567Met) rs773932034
NM_017617.5(NOTCH1):c.1711G>A (p.Asp571Asn) rs373125283
NM_017617.5(NOTCH1):c.1712A>C (p.Asp571Ala)
NM_017617.5(NOTCH1):c.1718A>C (p.Asp573Ala)
NM_017617.5(NOTCH1):c.1725C>T (p.Cys575=) rs369070550
NM_017617.5(NOTCH1):c.1741A>G (p.Lys581Glu)
NM_017617.5(NOTCH1):c.1747G>A (p.Gly583Ser)
NM_017617.5(NOTCH1):c.1753G>A (p.Ala585Thr) rs775217381
NM_017617.5(NOTCH1):c.1775G>A (p.Arg592His) rs544117297
NM_017617.5(NOTCH1):c.1778C>T (p.Pro593Leu) rs886039014
NM_017617.5(NOTCH1):c.1787C>T (p.Thr596Met) rs61755997
NM_017617.5(NOTCH1):c.17_18delCGinsTT (p.Ala6Val) rs878855023
NM_017617.5(NOTCH1):c.1815C>G (p.Asn605Lys)
NM_017617.5(NOTCH1):c.1837C>T (p.Arg613Cys) rs763988265
NM_017617.5(NOTCH1):c.1843G>A (p.Gly615Arg)
NM_017617.5(NOTCH1):c.1870G>A (p.Ala624Thr) rs372771179
NM_017617.5(NOTCH1):c.1903+6C>T rs753388966
NM_017617.5(NOTCH1):c.1904-3C>A rs748118679
NM_017617.5(NOTCH1):c.1918A>G (p.Ile640Val) rs1307313338
NM_017617.5(NOTCH1):c.1950C>T (p.Cys650=) rs147086700
NM_017617.5(NOTCH1):c.1972A>G (p.Lys658Glu) rs1260932753
NM_017617.5(NOTCH1):c.1981G>A (p.Gly661Ser) rs201077220
NM_017617.5(NOTCH1):c.2005G>C (p.Gly669Arg) rs778394191
NM_017617.5(NOTCH1):c.2014+6C>T rs529806324
NM_017617.5(NOTCH1):c.2021T>C (p.Met674Thr) rs587782970
NM_017617.5(NOTCH1):c.2054A>C (p.Asn685Thr)
NM_017617.5(NOTCH1):c.2068G>A (p.Gly690Arg) rs764112977
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.2107C>T (p.Arg703Cys) rs746213819
NM_017617.5(NOTCH1):c.2108G>A (p.Arg703His) rs561126575
NM_017617.5(NOTCH1):c.211G>A (p.Ala71Thr) rs753106233
NM_017617.5(NOTCH1):c.2126A>G (p.His709Arg) rs373233257
NM_017617.5(NOTCH1):c.2191C>T (p.Arg731Trp) rs199666126
NM_017617.5(NOTCH1):c.2206G>A (p.Gly736Arg) rs201662530
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.2218G>A (p.Asp740Asn) rs200816814
NM_017617.5(NOTCH1):c.2243C>A (p.Thr748Asn)
NM_017617.5(NOTCH1):c.2266G>A (p.Glu756Lys)
NM_017617.5(NOTCH1):c.2291A>G (p.Asn764Ser) rs1454630791
NM_017617.5(NOTCH1):c.2297G>T (p.Gly766Val)
NM_017617.5(NOTCH1):c.2318G>C (p.Ser773Thr) rs758073507
NM_017617.5(NOTCH1):c.2326G>A (p.Val776Met) rs377286829
NM_017617.5(NOTCH1):c.2338C>T (p.Arg780Trp) rs756642176
NM_017617.5(NOTCH1):c.2352C>T (p.Ser784=) rs774701000
NM_017617.5(NOTCH1):c.2354-5T>C rs371944522
NM_017617.5(NOTCH1):c.2359A>G (p.Asn787Asp) rs199672693
NM_017617.5(NOTCH1):c.235C>T (p.Arg79Cys) rs761439288
NM_017617.5(NOTCH1):c.2363G>T (p.Cys788Phe)
NM_017617.5(NOTCH1):c.236G>A (p.Arg79His) rs768517628
NM_017617.5(NOTCH1):c.2425G>A (p.Asp809Asn) rs762729988
NM_017617.5(NOTCH1):c.2434G>A (p.Gly812Arg) rs201620755
NM_017617.5(NOTCH1):c.2441A>G (p.Lys814Arg) rs747529236
NM_017617.5(NOTCH1):c.2443T>A (p.Cys815Ser) rs1176627299
NM_017617.5(NOTCH1):c.2446A>G (p.Asn816Asp)
NM_017617.5(NOTCH1):c.244G>A (p.Val82Met) rs571831870
NM_017617.5(NOTCH1):c.2458C>T (p.Pro820Ser)
NM_017617.5(NOTCH1):c.2495C>T (p.Pro832Leu) rs559917218
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.2501C>T (p.Ala834Val) rs202144877
NM_017617.5(NOTCH1):c.2503C>T (p.Pro835Ser) rs377353441
NM_017617.5(NOTCH1):c.2521G>A (p.Gly841Ser) rs369259434
NM_017617.5(NOTCH1):c.2564G>A (p.Cys855Tyr) rs759862433
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.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.2654A>G (p.Gln885Arg) rs764327751
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.269_270delCCinsTG (p.Ala90Val) rs1554730737
NM_017617.5(NOTCH1):c.2705G>A (p.Arg902His) rs373075482
NM_017617.5(NOTCH1):c.2712C>T (p.Cys904=) rs369645726
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp) rs201620358
NM_017617.5(NOTCH1):c.2743C>G (p.Pro915Ala) rs878855024
NM_017617.5(NOTCH1):c.274G>C (p.Gly92Arg)
NM_017617.5(NOTCH1):c.2753A>G (p.Asn918Ser) rs367586502
NM_017617.5(NOTCH1):c.2806G>A (p.Gly936Ser) rs773847667
NM_017617.5(NOTCH1):c.2812C>T (p.Arg938Trp) rs554142958
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.2882C>T (p.Thr961Met) rs377343669
NM_017617.5(NOTCH1):c.2908A>G (p.Thr970Ala)
NM_017617.5(NOTCH1):c.2917G>A (p.Ala973Thr) rs200699541
NM_017617.5(NOTCH1):c.2951C>T (p.Thr984Met) rs769132985
NM_017617.5(NOTCH1):c.2983G>A (p.Gly995Ser)
NM_017617.5(NOTCH1):c.3001G>A (p.Gly1001Ser) rs763621169
NM_017617.5(NOTCH1):c.301C>A (p.Pro101Thr)
NM_017617.5(NOTCH1):c.3034G>A (p.Gly1012Ser) rs776957107
NM_017617.5(NOTCH1):c.3061G>A (p.Asp1021Asn) rs760908627
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.3118T>C (p.Cys1040Arg) rs1060502235
NM_017617.5(NOTCH1):c.3172-5C>T
NM_017617.5(NOTCH1):c.3190G>A (p.Asp1064Asn) rs375931404
NM_017617.5(NOTCH1):c.3231C>G (p.Thr1077=) rs781656729
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)
NM_017617.5(NOTCH1):c.3262G>C (p.Gly1088Arg) rs531420022
NM_017617.5(NOTCH1):c.3269C>G (p.Thr1090Ser) rs761508282
NM_017617.5(NOTCH1):c.3271G>A (p.Gly1091Ser) rs768095251
NM_017617.5(NOTCH1):c.328C>T (p.Pro110Ser) rs1064796976
NM_017617.5(NOTCH1):c.3320G>A (p.Arg1107Gln) rs756087913
NM_017617.5(NOTCH1):c.3334G>A (p.Val1112Ile)
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.334C>T (p.Arg112Cys)
NM_017617.5(NOTCH1):c.3350A>G (p.Gln1117Arg) rs764816819
NM_017617.5(NOTCH1):c.335G>A (p.Arg112His) rs768625801
NM_017617.5(NOTCH1):c.3370G>A (p.Asp1124Asn)
NM_017617.5(NOTCH1):c.3374C>T (p.Ala1125Val) rs200871631
NM_017617.5(NOTCH1):c.339C>T (p.Asn113=) rs369947231
NM_017617.5(NOTCH1):c.3403G>A (p.Ala1135Thr) rs1554728380
NM_017617.5(NOTCH1):c.3417C>T (p.Gly1139=)
NM_017617.5(NOTCH1):c.3442G>A (p.Glu1148Lys) rs1060502239
NM_017617.5(NOTCH1):c.3468C>T (p.Asn1156=)
NM_017617.5(NOTCH1):c.3469G>A (p.Gly1157Arg) rs549630973
NM_017617.5(NOTCH1):c.3510+3G>A rs372739350
NM_017617.5(NOTCH1):c.3528C>T (p.His1176=) rs202133782
NM_017617.5(NOTCH1):c.3569A>G (p.His1190Arg)
NM_017617.5(NOTCH1):c.3598G>A (p.Asp1200Asn) rs544640305
NM_017617.5(NOTCH1):c.3604C>T (p.Pro1202Ser) rs1554728268
NM_017617.5(NOTCH1):c.3638C>G (p.Thr1213Ser) rs750536437
NM_017617.5(NOTCH1):c.3642G>A (p.Gln1214=)
NM_017617.5(NOTCH1):c.3644-4G>A rs376161552
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.3694G>A (p.Val1232Met) rs750169914
NM_017617.5(NOTCH1):c.3706C>T (p.Pro1236Ser) rs749988739
NM_017617.5(NOTCH1):c.3741G>C (p.Gln1247His)
NM_017617.5(NOTCH1):c.3788G>A (p.Arg1263His) rs377594681
NM_017617.5(NOTCH1):c.3829G>A (p.Asp1277Asn) rs550872754
NM_017617.5(NOTCH1):c.3835C>T (p.Arg1279Cys) rs182330532
NM_017617.5(NOTCH1):c.383G>A (p.Arg128His) rs754086897
NM_017617.5(NOTCH1):c.3852C>G (p.Cys1284Trp)
NM_017617.5(NOTCH1):c.3853G>A (p.Val1285Met) rs756972680
NM_017617.5(NOTCH1):c.3860G>A (p.Arg1287His)
NM_017617.5(NOTCH1):c.3869A>G (p.Asp1290Gly) rs1347832105
NM_017617.5(NOTCH1):c.3874C>T (p.His1292Tyr) rs372348365
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.3954T>A (p.Asn1318Lys) rs754634957
NM_017617.5(NOTCH1):c.3970G>A (p.Val1324Met) rs149057410
NM_017617.5(NOTCH1):c.3970G>T (p.Val1324Leu)
NM_017617.5(NOTCH1):c.3974C>A (p.Ala1325Asp) rs896438598
NM_017617.5(NOTCH1):c.4010C>G (p.Pro1337Arg) rs1043832212
NM_017617.5(NOTCH1):c.4013C>T (p.Ala1338Val) rs1397249771
NM_017617.5(NOTCH1):c.4014G>A (p.Ala1338=) rs377217445
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.4031C>G (p.Thr1344Arg)
NM_017617.5(NOTCH1):c.4031C>T (p.Thr1344Met) rs201215245
NM_017617.5(NOTCH1):c.4046C>T (p.Ala1349Val)
NM_017617.5(NOTCH1):c.4049G>A (p.Arg1350His)
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.4057G>A (p.Gly1353Ser)
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.4078G>A (p.Gly1360Ser) rs769493139
NM_017617.5(NOTCH1):c.4096G>A (p.Gly1366Ser) rs778270588
NM_017617.5(NOTCH1):c.4137G>A (p.Thr1379=) rs762733162
NM_017617.5(NOTCH1):c.4157C>T (p.Pro1386Leu) rs367710569
NM_017617.5(NOTCH1):c.4168C>A (p.Pro1390Thr) rs191645600
NM_017617.5(NOTCH1):c.4222G>A (p.Glu1408Lys) rs587778569
NM_017617.5(NOTCH1):c.4237C>A (p.Arg1413Ser)
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.4262A>G (p.Asn1421Ser) rs76473337
NM_017617.5(NOTCH1):c.4271T>C (p.Leu1424Ser) rs954507677
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.4319T>C (p.Ile1440Thr) rs778742968
NM_017617.5(NOTCH1):c.4335C>G (p.Ile1445Met) rs373960609
NM_017617.5(NOTCH1):c.4336G>A (p.Glu1446Lys)
NM_017617.5(NOTCH1):c.4348G>A (p.Glu1450Lys)
NM_017617.5(NOTCH1):c.4372G>A (p.Ala1458Thr) rs200495793
NM_017617.5(NOTCH1):c.4412C>T (p.Ala1471Val)
NM_017617.5(NOTCH1):c.4426G>A (p.Gly1476Ser) rs776133530
NM_017617.5(NOTCH1):c.4451A>G (p.Asn1484Ser)
NM_017617.5(NOTCH1):c.4472C>T (p.Thr1491Met) rs369915496
NM_017617.5(NOTCH1):c.454G>A (p.Gly152Ser) rs750242131
NM_017617.5(NOTCH1):c.4571C>T (p.Ala1524Val) rs774374213
NM_017617.5(NOTCH1):c.4587-5dup
NM_017617.5(NOTCH1):c.4640A>G (p.Gln1547Arg) rs1055806143
NM_017617.5(NOTCH1):c.4652G>T (p.Ser1551Ile) rs774068657
NM_017617.5(NOTCH1):c.4663G>A (p.Glu1555Lys)
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.4718C>T (p.Thr1573Met) rs573864607
NM_017617.5(NOTCH1):c.4790G>T (p.Ser1597Ile)
NM_017617.5(NOTCH1):c.4793G>A (p.Arg1598His) rs755124691
NM_017617.5(NOTCH1):c.4795G>A (p.Val1599Met)
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.4879C>T (p.Arg1627Cys) rs1203442527
NM_017617.5(NOTCH1):c.4880G>A (p.Arg1627His) rs946083212
NM_017617.5(NOTCH1):c.4898G>A (p.Arg1633His) rs375018022
NM_017617.5(NOTCH1):c.4915G>A (p.Ala1639Thr) rs878855026
NM_017617.5(NOTCH1):c.4918G>A (p.Ala1640Thr) rs976118697
NM_017617.5(NOTCH1):c.4927G>A (p.Ala1643Thr) rs566680728
NM_017617.5(NOTCH1):c.4930C>T (p.Leu1644=) rs568700183
NM_017617.5(NOTCH1):c.4952C>T (p.Ser1651Leu)
NM_017617.5(NOTCH1):c.4953G>T (p.Ser1651=)
NM_017617.5(NOTCH1):c.4971C>G (p.Ser1657Arg) rs367838230
NM_017617.5(NOTCH1):c.4971C>T (p.Ser1657=) rs367838230
NM_017617.5(NOTCH1):c.4985G>A (p.Arg1662Gln)
NM_017617.5(NOTCH1):c.4988G>A (p.Arg1663Gln) rs749490844
NM_017617.5(NOTCH1):c.4C>G (p.Pro2Ala)
NM_017617.5(NOTCH1):c.500C>T (p.Pro167Leu) rs370951369
NM_017617.5(NOTCH1):c.5014C>T (p.Arg1672Cys) rs745901158
NM_017617.5(NOTCH1):c.5017G>A (p.Gly1673Ser) rs1226514285
NM_017617.5(NOTCH1):c.5023A>G (p.Ile1675Val) rs375408767
NM_017617.5(NOTCH1):c.5069C>T (p.Ser1690Leu) rs552065719
NM_017617.5(NOTCH1):c.5092G>A (p.Asp1698Asn) rs1417478070
NM_017617.5(NOTCH1):c.5126T>C (p.Leu1709Pro) rs886043624
NM_017617.5(NOTCH1):c.5168-4G>A rs751709616
NM_017617.5(NOTCH1):c.5189C>T (p.Pro1730Leu) rs375897519
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.5215G>A (p.Val1739Met) rs377294245
NM_017617.5(NOTCH1):c.5218G>T (p.Ala1740Ser) rs864622062
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.5260G>A (p.Val1754Met) rs1554727492
NM_017617.5(NOTCH1):c.5272C>G (p.Arg1758Gly) rs777859108
NM_017617.5(NOTCH1):c.527G>A (p.Arg176Gln) rs375065108
NM_017617.5(NOTCH1):c.527_528delGGinsTT (p.Arg176Leu)
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.5347C>T (p.Arg1783Trp) rs528703507
NM_017617.5(NOTCH1):c.5365G>A (p.Glu1789Lys) rs1198855127
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)
NM_017617.5(NOTCH1):c.5438G>T (p.Trp1813Leu) rs755659037
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.5492T>C (p.Leu1831Pro) rs1085307869
NM_017617.5(NOTCH1):c.5500C>G (p.Leu1834Val) rs73668312
NM_017617.5(NOTCH1):c.5506G>A (p.Asp1836Asn) rs200100726
NM_017617.5(NOTCH1):c.5535_5536delGCinsAA (p.Gln1846Lys) rs878855027
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.5605G>T (p.Ala1869Ser) rs200603539
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.5723C>T (p.Ala1908Val) rs886039188
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.5784C>T (p.Gly1928=) rs773571672
NM_017617.5(NOTCH1):c.5819G>A (p.Arg1940His)
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.5901G>A (p.Ala1967=)
NM_017617.5(NOTCH1):c.5914G>A (p.Asp1972Asn) rs1414380652
NM_017617.5(NOTCH1):c.5934+8G>A rs747822127
NM_017617.5(NOTCH1):c.5971C>T (p.Arg1991Cys)
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.6027C>T (p.Gly2009=) rs1232741465
NM_017617.5(NOTCH1):c.6028A>T (p.Met2010Leu) rs1085307554
NM_017617.5(NOTCH1):c.6058G>A (p.Asp2020Asn) rs752928106
NM_017617.5(NOTCH1):c.6100T>C (p.Trp2034Arg) rs1554826698
NM_017617.5(NOTCH1):c.6109G>T (p.Ala2037Ser) rs1060502237
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.6131C>T (p.Ala2044Val) rs1085307562
NM_017617.5(NOTCH1):c.6149A>G (p.Asn2050Ser) rs759344174
NM_017617.5(NOTCH1):c.6205G>A (p.Ala2069Thr) rs567909904
NM_017617.5(NOTCH1):c.6227C>T (p.Thr2076Ile) rs1022510242
NM_017617.5(NOTCH1):c.6229G>A (p.Ala2077Thr)
NM_017617.5(NOTCH1):c.622G>A (p.Ala208Thr) rs745817995
NM_017617.5(NOTCH1):c.6259C>T (p.Arg2087Trp)
NM_017617.5(NOTCH1):c.6275A>C (p.His2092Pro) rs1554826539
NM_017617.5(NOTCH1):c.6283C>T (p.Arg2095Cys) rs780873661
NM_017617.5(NOTCH1):c.6284G>A (p.Arg2095His) rs756874994
NM_017617.5(NOTCH1):c.6284G>T (p.Arg2095Leu) rs756874994
NM_017617.5(NOTCH1):c.6291G>A (p.Pro2097=) rs201987555
NM_017617.5(NOTCH1):c.6293G>A (p.Arg2098His)
NM_017617.5(NOTCH1):c.62G>A (p.Gly21Asp) rs1554733407
NM_017617.5(NOTCH1):c.6313A>G (p.Met2105Val)
NM_017617.5(NOTCH1):c.631A>G (p.Thr211Ala) rs376902925
NM_017617.5(NOTCH1):c.632C>G (p.Thr211Ser) rs1401319182
NM_017617.5(NOTCH1):c.6343G>A (p.Glu2115Lys) rs777219891
NM_017617.5(NOTCH1):c.6358C>T (p.Arg2120Cys) rs375969725
NM_017617.5(NOTCH1):c.6362G>A (p.Ser2121Asn) rs761054017
NM_017617.5(NOTCH1):c.6365C>T (p.Pro2122Leu) rs767587816
NM_017617.5(NOTCH1):c.6376G>A (p.Gly2126Arg) rs572960572
NM_017617.5(NOTCH1):c.6409C>T (p.Pro2137Ser) rs372698234
NM_017617.5(NOTCH1):c.6413C>T (p.Pro2138Leu)
NM_017617.5(NOTCH1):c.6422C>T (p.Ser2141Leu) rs767822693
NM_017617.5(NOTCH1):c.6428A>G (p.Asn2143Ser) rs1085307778
NM_017617.5(NOTCH1):c.6449A>G (p.Lys2150Arg)
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)
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.6503G>A (p.Cys2168Tyr) rs1055326153
NM_017617.5(NOTCH1):c.6509G>A (p.Ser2170Asn) rs200254239
NM_017617.5(NOTCH1):c.650G>A (p.Arg217Gln) rs1392605424
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.6536G>A (p.Arg2179Gln) rs587778571
NM_017617.5(NOTCH1):c.6577A>G (p.Ser2193Gly) rs1060502236
NM_017617.5(NOTCH1):c.6583G>A (p.Gly2195Ser) rs376422513
NM_017617.5(NOTCH1):c.6593C>T (p.Ser2198Leu) rs761562076
NM_017617.5(NOTCH1):c.6685G>A (p.Val2229Met) rs202096917
NM_017617.5(NOTCH1):c.6727G>A (p.Gly2243Ser) rs61751491
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.6760G>A (p.Glu2254Lys)
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.6815G>A (p.Arg2272His) rs972658026
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.6867C>A (p.Ser2289Arg) rs1131691923
NM_017617.5(NOTCH1):c.6895G>A (p.Gly2299Ser) rs1020747496
NM_017617.5(NOTCH1):c.6897C>T (p.Gly2299=)
NM_017617.5(NOTCH1):c.6898G>A (p.Gly2300Arg) rs587778573
NM_017617.5(NOTCH1):c.6924C>T (p.Cys2308=) rs756653663
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.695C>A (p.Thr232Asn) rs869025493
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.6983G>A (p.Gly2328Glu) rs1451926227
NM_017617.5(NOTCH1):c.701G>A (p.Arg234His) rs150737112
NM_017617.5(NOTCH1):c.7033G>A (p.Gly2345Ser) rs1325758824
NM_017617.5(NOTCH1):c.707C>T (p.Thr236Met) rs537766290
NM_017617.5(NOTCH1):c.7115G>A (p.Arg2372Gln) rs373119531
NM_017617.5(NOTCH1):c.7130C>T (p.Pro2377Leu)
NM_017617.5(NOTCH1):c.7138G>A (p.Val2380Met) rs769693988
NM_017617.5(NOTCH1):c.7145C>T (p.Thr2382Ile)
NM_017617.5(NOTCH1):c.7150C>G (p.Gln2384Glu) rs375119074
NM_017617.5(NOTCH1):c.7175T>C (p.Met2392Thr) rs1036612594
NM_017617.5(NOTCH1):c.7193A>G (p.Gln2398Arg)
NM_017617.5(NOTCH1):c.7209G>C (p.Gln2403His)
NM_017617.5(NOTCH1):c.7210C>T (p.Gln2404Ter) rs1554826400
NM_017617.5(NOTCH1):c.7223T>C (p.Leu2408Pro) rs767728582
NM_017617.5(NOTCH1):c.7250C>T (p.Pro2417Leu) rs370652630
NM_017617.5(NOTCH1):c.7279G>A (p.Gly2427Ser) rs370722609
NM_017617.5(NOTCH1):c.7291C>T (p.Arg2431Trp) rs758410389
NM_017617.5(NOTCH1):c.7311G>T (p.Glu2437Asp) rs886039031
NM_017617.5(NOTCH1):c.7313C>T (p.Pro2438Leu) rs199777870
NM_017617.5(NOTCH1):c.7316G>C (p.Ser2439Thr) rs1131691402
NM_017617.5(NOTCH1):c.7363A>G (p.Thr2455Ala) rs536167222
NM_017617.5(NOTCH1):c.7366A>G (p.Ile2456Val)
NM_017617.5(NOTCH1):c.7387G>A (p.Ala2463Thr) rs537210445
NM_017617.5(NOTCH1):c.7397C>T (p.Thr2466Met) rs369167555
NM_017617.5(NOTCH1):c.7400C>T (p.Ser2467Leu) rs375025242
NM_017617.5(NOTCH1):c.7438C>T (p.Gln2480Ter) rs1554826355
NM_017617.5(NOTCH1):c.7482G>A (p.Val2494=)
NM_017617.5(NOTCH1):c.7498C>G (p.His2500Asp) rs763902589
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.7541C>T (p.Pro2514Leu)
NM_017617.5(NOTCH1):c.7541_7542del (p.Pro2514Argfs)
NM_017617.5(NOTCH1):c.7545G>T (p.Glu2515Asp) rs1365732147
NM_017617.5(NOTCH1):c.7554C>G (p.Asp2518Glu) rs771410115
NM_017617.5(NOTCH1):c.7568C>T (p.Ser2523Leu) rs1554826328
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.7642G>A (p.Ala2548Thr)
NM_017617.5(NOTCH1):c.7645C>T (p.Arg2549Cys) rs200893930
NM_017617.5(NOTCH1):c.775G>A (p.Asp259Asn) rs763187824
NM_017617.5(NOTCH1):c.79C>A (p.Pro27Thr) rs769784635
NM_017617.5(NOTCH1):c.823G>A (p.Gly275Ser) rs371333249
NM_017617.5(NOTCH1):c.839A>G (p.Asn280Ser) rs367825691
NM_017617.5(NOTCH1):c.865+10C>T rs760702631
NM_017617.5(NOTCH1):c.892G>C (p.Glu298Gln) rs1060502232
NM_017617.5(NOTCH1):c.949G>A (p.Gly317Ser) rs749696049
NM_017617.5(NOTCH1):c.956A>G (p.Tyr319Cys) rs1554730095
NM_017617.5(NOTCH1):c.999C>T (p.Ser333=) rs751646144

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