ClinVar Miner

List of variants in gene NOTCH1 reported by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 283
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HGVS dbSNP
NM_017617.5(NOTCH1):c.*5C>T rs746945124
NM_017617.5(NOTCH1):c.1038C>T (p.His346=) rs376951155
NM_017617.5(NOTCH1):c.1096A>G (p.Thr366Ala) rs1554730065
NM_017617.5(NOTCH1):c.1122C>T (p.Asp374=) rs192683347
NM_017617.5(NOTCH1):c.114A>G (p.Glu38=) rs375506915
NM_017617.5(NOTCH1):c.123T>C (p.Asn41=) rs1207676067
NM_017617.5(NOTCH1):c.1256-5G>A rs773981257
NM_017617.5(NOTCH1):c.1262A>G (p.Asn421Ser) rs928512979
NM_017617.5(NOTCH1):c.1295C>T (p.Thr432Met) rs200562991
NM_017617.5(NOTCH1):c.1342C>T (p.Arg448Ter) rs869025494
NM_017617.5(NOTCH1):c.1363G>C (p.Glu455Gln) rs1554729950
NM_017617.5(NOTCH1):c.1374G>A (p.Ser458=) rs886039016
NM_017617.5(NOTCH1):c.1389C>T (p.Asn463=) rs61733293
NM_017617.5(NOTCH1):c.156C>T (p.Phe52=) rs536299678
NM_017617.5(NOTCH1):c.1635C>T (p.Asp545=) rs11574889
NM_017617.5(NOTCH1):c.165G>A (p.Pro55=) rs373793124
NM_017617.5(NOTCH1):c.1665G>A (p.Thr555=) rs148331061
NM_017617.5(NOTCH1):c.1669+5G>A rs771590616
NM_017617.5(NOTCH1):c.166C>T (p.Arg56Ter) rs1348892740
NM_017617.5(NOTCH1):c.1689C>T (p.Cys563=) rs760548976
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.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.1815C>T (p.Asn605=) rs781029850
NM_017617.5(NOTCH1):c.1862G>A (p.Arg621His) rs138504021
NM_017617.5(NOTCH1):c.18G>A (p.Ala6=) rs752471556
NM_017617.5(NOTCH1):c.1914C>T (p.Cys638=) rs373068883
NM_017617.5(NOTCH1):c.1950C>T (p.Cys650=) rs147086700
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.1981G>A (p.Gly661Ser) rs201077220
NM_017617.5(NOTCH1):c.19C>T (p.Pro7Ser) rs1397523469
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.2068G>A (p.Gly690Arg) rs764112977
NM_017617.5(NOTCH1):c.2080G>A (p.Glu694Lys) rs79782048
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.2112C>T (p.Cys704=) rs757495549
NM_017617.5(NOTCH1):c.211G>A (p.Ala71Thr) rs753106233
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.2136C>A (p.Thr712=) rs369346436
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.2263_2265del (p.Asn755del) rs587778559
NM_017617.5(NOTCH1):c.2265T>C (p.Asn755=) rs2229971
NM_017617.5(NOTCH1):c.2338C>T (p.Arg780Trp) rs756642176
NM_017617.5(NOTCH1):c.2354-5T>C rs371944522
NM_017617.5(NOTCH1):c.2388G>A (p.Ala796=) rs561956078
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.2442G>A (p.Lys814=) rs544653892
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.2542G>A (p.Glu848Lys) rs35136134
NM_017617.5(NOTCH1):c.2564G>A (p.Cys855Tyr) rs759862433
NM_017617.5(NOTCH1):c.2576C>T (p.Thr859Met) rs199505287
NM_017617.5(NOTCH1):c.2588-4G>A rs3125001
NM_017617.5(NOTCH1):c.2604C>T (p.Val868=) rs115235667
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.2654A>G (p.Gln885Arg) rs764327751
NM_017617.5(NOTCH1):c.2664C>T (p.His888=) rs61751548
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.269_270delinsTG (p.Ala90Val) rs1554730737
NM_017617.5(NOTCH1):c.2705G>A (p.Arg902His) rs373075482
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp) rs201620358
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.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.2916C>T (p.Pro972=) rs754724517
NM_017617.5(NOTCH1):c.2917G>A (p.Ala973Thr) rs200699541
NM_017617.5(NOTCH1):c.3001G>A (p.Gly1001Ser) rs763621169
NM_017617.5(NOTCH1):c.3042G>A (p.Thr1014=) rs371532644
NM_017617.5(NOTCH1):c.3052del (p.Cys1018fs) rs1554728529
NM_017617.5(NOTCH1):c.3061G>A (p.Asp1021Asn) rs760908627
NM_017617.5(NOTCH1):c.3099C>T (p.Gly1033=) rs775567314
NM_017617.5(NOTCH1):c.3104C>T (p.Thr1035Ile) rs886039138
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.311A>G (p.Asn104Ser) rs199654211
NM_017617.5(NOTCH1):c.312T>C (p.Asn104=) rs4489420
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.3294C>T (p.Ser1098=) rs61751546
NM_017617.5(NOTCH1):c.3315G>T (p.Ala1105=) rs3812602
NM_017617.5(NOTCH1):c.3333C>T (p.Asp1111=) rs61751545
NM_017617.5(NOTCH1):c.3338C>T (p.Ala1113Val) rs377351349
NM_017617.5(NOTCH1):c.3350A>G (p.Gln1117Arg) rs764816819
NM_017617.5(NOTCH1):c.3401A>G (p.Gln1134Arg) rs374230681
NM_017617.5(NOTCH1):c.3405G>A (p.Ala1135=) rs192914380
NM_017617.5(NOTCH1):c.3486C>T (p.Asp1162=) rs771905237
NM_017617.5(NOTCH1):c.3528C>T (p.His1176=) rs202133782
NM_017617.5(NOTCH1):c.3597C>T (p.Leu1199=) rs150666307
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.3644-4G>A rs376161552
NM_017617.5(NOTCH1):c.3679C>T (p.Pro1227Ser) rs777652834
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.3767C>T (p.Pro1256Leu) rs80340744
NM_017617.5(NOTCH1):c.3780G>C (p.Val1260=) rs201354526
NM_017617.5(NOTCH1):c.3789C>T (p.Arg1263=) rs369004626
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.3852C>T (p.Cys1284=) rs377289044
NM_017617.5(NOTCH1):c.3861C>T (p.Arg1287=) rs758031388
NM_017617.5(NOTCH1):c.3909C>T (p.Arg1303=) rs370604672
NM_017617.5(NOTCH1):c.390G>A (p.Pro130=) rs61751559
NM_017617.5(NOTCH1):c.3970G>A (p.Val1324Met) rs149057410
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.4024G>A (p.Gly1342Ser) rs748933222
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.4049G>T (p.Arg1350Leu) rs150343794
NM_017617.5(NOTCH1):c.4056C>T (p.Cys1352=) rs200099319
NM_017617.5(NOTCH1):c.4077C>T (p.Asn1359=) rs775108554
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.4129C>T (p.Pro1377Ser) rs61751542
NM_017617.5(NOTCH1):c.4168C>A (p.Pro1390Thr) rs191645600
NM_017617.5(NOTCH1):c.4185C>T (p.Asn1395=) rs749570626
NM_017617.5(NOTCH1):c.4238G>A (p.Arg1413His) rs371068504
NM_017617.5(NOTCH1):c.4262A>G (p.Asn1421Ser) rs76473337
NM_017617.5(NOTCH1):c.4313G>A (p.Arg1438His) rs61751541
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.4344G>A (p.Ala1448=) rs763497791
NM_017617.5(NOTCH1):c.4372G>A (p.Ala1458Thr) rs200495793
NM_017617.5(NOTCH1):c.4407C>T (p.Asn1469=) rs202231073
NM_017617.5(NOTCH1):c.4472C>T (p.Thr1491Met) rs369915496
NM_017617.5(NOTCH1):c.4506C>T (p.Asp1502=) rs751191827
NM_017617.5(NOTCH1):c.4536C>T (p.Ala1512=) rs61751540
NM_017617.5(NOTCH1):c.4542C>T (p.Cys1514=) rs1554727957
NM_017617.5(NOTCH1):c.4548C>T (p.Phe1516=) rs199740882
NM_017617.5(NOTCH1):c.4551C>T (p.Asp1517=) rs766737406
NM_017617.5(NOTCH1):c.4626C>T (p.Asp1542=) rs142375989
NM_017617.5(NOTCH1):c.4652G>T (p.Ser1551Ile) rs774068657
NM_017617.5(NOTCH1):c.4698C>T (p.Pro1566=) rs200462746
NM_017617.5(NOTCH1):c.4710G>A (p.Ala1570=) rs773978978
NM_017617.5(NOTCH1):c.4746G>A (p.Pro1582=) rs886038974
NM_017617.5(NOTCH1):c.4793G>A (p.Arg1598His) rs755124691
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.4887C>T (p.His1629=) rs61751539
NM_017617.5(NOTCH1):c.4898G>A (p.Arg1633His) rs375018022
NM_017617.5(NOTCH1):c.4917C>T (p.Ala1639=) rs371365065
NM_017617.5(NOTCH1):c.4927G>A (p.Ala1643Thr) rs566680728
NM_017617.5(NOTCH1):c.4971C>T (p.Ser1657=) rs367838230
NM_017617.5(NOTCH1):c.4988G>A (p.Arg1663Gln) rs749490844
NM_017617.5(NOTCH1):c.500C>T (p.Pro167Leu) rs370951369
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.5017G>A (p.Gly1673Ser) rs1226514285
NM_017617.5(NOTCH1):c.5073G>A (p.Gln1691=) rs61751538
NM_017617.5(NOTCH1):c.5092G>A (p.Asp1698Asn) rs1417478070
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.5124G>A (p.Ser1708=) rs35980907
NM_017617.5(NOTCH1):c.5124G>T (p.Ser1708=) rs35980907
NM_017617.5(NOTCH1):c.5168-4G>A rs751709616
NM_017617.5(NOTCH1):c.5175C>T (p.Thr1725=) rs61751536
NM_017617.5(NOTCH1):c.5208C>T (p.Phe1736=) rs781386640
NM_017617.5(NOTCH1):c.5215G>A (p.Val1739Met) rs377294245
NM_017617.5(NOTCH1):c.5226C>T (p.Ala1742=) rs116316039
NM_017617.5(NOTCH1):c.5398G>A (p.Ala1800Thr) rs569203312
NM_017617.5(NOTCH1):c.5403A>G (p.Ser1801=) rs201358664
NM_017617.5(NOTCH1):c.5414T>C (p.Leu1805Pro) rs201779159
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.5500C>T (p.Leu1834=) rs73668312
NM_017617.5(NOTCH1):c.5506G>A (p.Asp1836Asn) rs200100726
NM_017617.5(NOTCH1):c.5560C>T (p.Arg1854Cys) rs376689092
NM_017617.5(NOTCH1):c.5562C>T (p.Arg1854=) rs777125560
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.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.5723C>T (p.Ala1908Val) rs886039188
NM_017617.5(NOTCH1):c.573C>T (p.His191=) rs763733336
NM_017617.5(NOTCH1):c.5776C>T (p.Arg1926Cys) rs199652954
NM_017617.5(NOTCH1):c.5914G>A (p.Asp1972Asn) rs1414380652
NM_017617.5(NOTCH1):c.5950C>T (p.Arg1984Ter) rs1554826746
NM_017617.5(NOTCH1):c.5967T>C (p.Asp1989=) rs73668311
NM_017617.5(NOTCH1):c.597C>T (p.Val199=) rs747342494
NM_017617.5(NOTCH1):c.5988G>A (p.Thr1996=) rs186453356
NM_017617.5(NOTCH1):c.59G>T (p.Arg20Leu) rs1554733799
NM_017617.5(NOTCH1):c.6018C>T (p.Ala2006=) rs748935957
NM_017617.5(NOTCH1):c.6054C>T (p.His2018=) rs202198360
NM_017617.5(NOTCH1):c.6105C>T (p.Ala2035=) rs188357478
NM_017617.5(NOTCH1):c.6130G>A (p.Ala2044Thr) rs544856644
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.6228C>T (p.Thr2076=) rs531156367
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.631A>G (p.Thr211Ala) rs376902925
NM_017617.5(NOTCH1):c.632C>G (p.Thr211Ser) rs1401319182
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.6429C>T (p.Asn2143=) rs369845924
NM_017617.5(NOTCH1):c.6454G>C (p.Gly2152Arg) rs116317506
NM_017617.5(NOTCH1):c.645C>T (p.Cys215=) rs974424401
NM_017617.5(NOTCH1):c.64C>T (p.Pro22Ser) rs114832250
NM_017617.5(NOTCH1):c.6521A>G (p.Lys2174Arg) rs761602495
NM_017617.5(NOTCH1):c.6555C>T (p.Asp2185=) rs2229974
NM_017617.5(NOTCH1):c.6591C>G (p.Leu2197=) rs767440286
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.6597C>T (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.6727G>A (p.Gly2243Ser) rs61751491
NM_017617.5(NOTCH1):c.6743A>C (p.Asn2248Thr) rs1554826464
NM_017617.5(NOTCH1):c.6744C>T (p.Asn2248=) rs372771288
NM_017617.5(NOTCH1):c.6753C>T (p.Ala2251=) rs542875894
NM_017617.5(NOTCH1):c.6777T>C (p.Gly2259=) rs61751490
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.6938G>A (p.Arg2313Gln) rs371069660
NM_017617.5(NOTCH1):c.6960G>A (p.Pro2320=) rs768457106
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.6991G>A (p.Ala2331Thr) rs111309246
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.7047G>A (p.Pro2349=) rs775336930
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.7150C>G (p.Gln2384Glu) rs375119074
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.7233A>G (p.Pro2411=) rs11574911
NM_017617.5(NOTCH1):c.7289G>C (p.Gly2430Ala) rs36049318
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.7338G>A (p.Leu2446=) rs35320927
NM_017617.5(NOTCH1):c.7363A>G (p.Thr2455Ala) rs536167222
NM_017617.5(NOTCH1):c.7369C>G (p.Leu2457Val) rs61755043
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.7401G>T (p.Ser2467=) rs371306178
NM_017617.5(NOTCH1):c.7425C>T (p.Pro2475=) rs772308416
NM_017617.5(NOTCH1):c.7438C>T (p.Gln2480Ter) rs1554826355
NM_017617.5(NOTCH1):c.7449G>A (p.Thr2483=) rs375728200
NM_017617.5(NOTCH1):c.750C>A (p.Thr250=) rs375772590
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.7545G>T (p.Glu2515Asp) rs1365732147
NM_017617.5(NOTCH1):c.7568C>T (p.Ser2523Leu) rs1554826328
NM_017617.5(NOTCH1):c.7569G>A (p.Ser2523=) rs534623042
NM_017617.5(NOTCH1):c.7606G>A (p.Val2536Ile) rs111627256
NM_017617.5(NOTCH1):c.7645C>T (p.Arg2549Cys) rs200893930
NM_017617.5(NOTCH1):c.7667A>G (p.Ter2556=) rs190691338
NM_017617.5(NOTCH1):c.775G>A (p.Asp259Asn) rs763187824
NM_017617.5(NOTCH1):c.851C>T (p.Pro284Leu) rs376104770
NM_017617.5(NOTCH1):c.852G>A (p.Pro284=) rs2229975
NM_017617.5(NOTCH1):c.873C>T (p.Tyr291=) rs143654474
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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