ClinVar Miner

List of variants in gene NOTCH1 reported by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 275
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HGVS dbSNP gnomAD frequency
NM_017617.5(NOTCH1):c.1669+9T>C rs3125006 0.87879
NM_017617.5(NOTCH1):c.312T>C (p.Asn104=) rs4489420 0.62688
NM_017617.5(NOTCH1):c.2467+21G>A rs3812608 0.60192
NM_017617.5(NOTCH1):c.6555C>T (p.Asp2185=) rs2229974 0.59546
NM_017617.5(NOTCH1):c.1441+7C>T rs9411208 0.57467
NM_017617.5(NOTCH1):c.2588-4G>A rs3125001 0.48952
NM_017617.5(NOTCH1):c.1555+10A>G rs11145767 0.48034
NM_017617.5(NOTCH1):c.1670-9A>G rs3124603 0.47256
NM_017617.5(NOTCH1):c.5094C>T (p.Asp1698=) rs10521 0.43502
NM_017617.5(NOTCH1):c.2265T>C (p.Asn755=) rs2229971 0.42989
NM_017617.5(NOTCH1):c.852G>A (p.Pro284=) rs2229975 0.12249
NM_017617.5(NOTCH1):c.2740+12C>T rs36119806 0.11457
NM_017617.5(NOTCH1):c.5639-12C>T rs11574908 0.06332
NM_017617.5(NOTCH1):c.7233A>G (p.Pro2411=) rs11574911 0.02871
NM_017617.5(NOTCH1):c.2587+20G>A rs148381982 0.01933
NM_017617.5(NOTCH1):c.711C>T (p.Gly237=) rs61751557 0.01860
NM_017617.5(NOTCH1):c.6853G>A (p.Val2285Ile) rs61751489 0.01849
NM_017617.5(NOTCH1):c.2205C>T (p.Asn735=) rs2229970 0.01759
NM_017617.5(NOTCH1):c.3836G>A (p.Arg1279His) rs61751543 0.01655
NM_017617.5(NOTCH1):c.*6G>A rs73668310 0.01480
NM_017617.5(NOTCH1):c.4129C>T (p.Pro1377Ser) rs61751542 0.01473
NM_017617.5(NOTCH1):c.2468-19G>A rs116515776 0.01328
NM_017617.5(NOTCH1):c.1100-16G>C rs146815871 0.01292
NM_017617.5(NOTCH1):c.5679C>T (p.Gly1893=) rs2229973 0.01198
NM_017617.5(NOTCH1):c.2691C>T (p.Ala897=) rs11574895 0.01135
NM_017617.5(NOTCH1):c.2664C>T (p.His888=) rs61751548 0.01126
NM_017617.5(NOTCH1):c.6648G>A (p.Pro2216=) rs3812596 0.01000
NM_017617.5(NOTCH1):c.1665G>A (p.Thr555=) rs148331061 0.00992
NM_017617.5(NOTCH1):c.7515T>G (p.Pro2505=) rs34152221 0.00880
NM_017617.5(NOTCH1):c.5011G>A (p.Val1671Ile) rs2229968 0.00847
NM_017617.5(NOTCH1):c.1635C>T (p.Asp545=) rs11574889 0.00824
NM_017617.5(NOTCH1):c.3780G>C (p.Val1260=) rs201354526 0.00754
NM_017617.5(NOTCH1):c.2969+13C>T rs7864720 0.00727
NM_017617.5(NOTCH1):c.5019-13A>G rs148002954 0.00648
NM_017617.5(NOTCH1):c.3767C>T (p.Pro1256Leu) rs80340744 0.00645
NM_017617.5(NOTCH1):c.5168-10G>A rs199903655 0.00645
NM_017617.5(NOTCH1):c.6777T>C (p.Gly2259=) rs61751490 0.00638
NM_017617.5(NOTCH1):c.663C>T (p.Pro221=) rs11574872 0.00637
NM_017617.5(NOTCH1):c.64C>T (p.Pro22Ser) rs114832250 0.00587
NM_017617.5(NOTCH1):c.5124G>T (p.Ser1708=) rs35980907 0.00561
NM_017617.5(NOTCH1):c.6991G>A (p.Ala2331Thr) rs111309246 0.00530
NM_017617.5(NOTCH1):c.7209G>A (p.Gln2403=) rs61751486 0.00503
NM_017617.5(NOTCH1):c.6397C>T (p.Pro2133Ser) rs61733294 0.00484
NM_017617.5(NOTCH1):c.873C>T (p.Tyr291=) rs143654474 0.00453
NM_017617.5(NOTCH1):c.4823G>A (p.Arg1608His) rs76371972 0.00421
NM_017617.5(NOTCH1):c.62-8C>T rs202023246 0.00401
NM_017617.5(NOTCH1):c.3333C>T (p.Asp1111=) rs61751545 0.00394
NM_017617.5(NOTCH1):c.6870C>T (p.Ser2290=) rs61751488 0.00369
NM_017617.5(NOTCH1):c.4536C>T (p.Ala1512=) rs61751540 0.00358
NM_017617.5(NOTCH1):c.5073G>A (p.Gln1691=) rs61751538 0.00341
NM_017617.5(NOTCH1):c.2207+10G>A rs191892426 0.00338
NM_017617.5(NOTCH1):c.1669+13G>A rs147260092 0.00319
NM_017617.5(NOTCH1):c.2542G>A (p.Glu848Lys) rs35136134 0.00318
NM_017617.5(NOTCH1):c.2769A>G (p.Thr923=) rs201985795 0.00314
NM_017617.5(NOTCH1):c.5226C>T (p.Ala1742=) rs116316039 0.00311
NM_017617.5(NOTCH1):c.4827C>T (p.Asp1609=) rs113634293 0.00308
NM_017617.5(NOTCH1):c.5018+20C>T rs139772121 0.00296
NM_017617.5(NOTCH1):c.5673C>T (p.Ser1891=) rs2229972 0.00289
NM_017617.5(NOTCH1):c.5445C>T (p.Asp1815=) rs61751535 0.00286
NM_017617.5(NOTCH1):c.3294C>T (p.Ser1098=) rs61751546 0.00283
NM_017617.5(NOTCH1):c.7338G>A (p.Leu2446=) rs35320927 0.00277
NM_017617.5(NOTCH1):c.5384+13C>T rs112582298 0.00271
NM_017617.5(NOTCH1):c.5175C>T (p.Thr1725=) rs61751536 0.00238
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp) rs201620358 0.00221
NM_017617.5(NOTCH1):c.7289G>C (p.Gly2430Ala) rs36049318 0.00200
NM_017617.5(NOTCH1):c.2813G>A (p.Arg938Gln) rs35962301 0.00195
NM_017617.5(NOTCH1):c.4626C>T (p.Asp1542=) rs142375989 0.00193
NM_017617.5(NOTCH1):c.4887C>T (p.His1629=) rs61751539 0.00182
NM_017617.5(NOTCH1):c.3511-10G>A rs139838537 0.00180
NM_017617.5(NOTCH1):c.3315G>T (p.Ala1105=) rs3812602 0.00175
NM_017617.5(NOTCH1):c.4028C>T (p.Ala1343Val) rs183156491 0.00171
NM_017617.5(NOTCH1):c.2124C>T (p.Tyr708=) rs376744729 0.00165
NM_017617.5(NOTCH1):c.263G>A (p.Ser88Asn) rs191357265 0.00156
NM_017617.5(NOTCH1):c.4056C>T (p.Cys1352=) rs200099319 0.00147
NM_017617.5(NOTCH1):c.2207+16G>A rs200956009 0.00139
NM_017617.5(NOTCH1):c.1122C>T (p.Asp374=) rs192683347 0.00137
NM_017617.5(NOTCH1):c.2970-20G>A rs367927174 0.00116
NM_017617.5(NOTCH1):c.1511G>A (p.Arg504His) rs201768800 0.00110
NM_017617.5(NOTCH1):c.2604C>T (p.Val868=) rs115235667 0.00103
NM_017617.5(NOTCH1):c.7648A>G (p.Ile2550Val) rs188270459 0.00103
NM_017617.5(NOTCH1):c.2049G>A (p.Ala683=) rs61751553 0.00096
NM_017617.5(NOTCH1):c.5506G>A (p.Asp1836Asn) rs200100726 0.00093
NM_017617.5(NOTCH1):c.1862G>A (p.Arg621His) rs138504021 0.00092
NM_017617.5(NOTCH1):c.6980G>A (p.Arg2327Gln) rs202065858 0.00088
NM_017617.5(NOTCH1):c.1650C>T (p.Tyr550=) rs371634784 0.00086
NM_017617.5(NOTCH1):c.2080G>A (p.Glu694Lys) rs79782048 0.00079
NM_017617.5(NOTCH1):c.368C>T (p.Thr123Met) rs187473846 0.00071
NM_017617.5(NOTCH1):c.5500C>T (p.Leu1834=) rs73668312 0.00070
NM_017617.5(NOTCH1):c.1389C>T (p.Asn463=) rs61733293 0.00067
NM_017617.5(NOTCH1):c.1962C>T (p.Thr654=) rs61751554 0.00067
NM_017617.5(NOTCH1):c.3115G>A (p.Gly1039Ser) rs200207651 0.00063
NM_017617.5(NOTCH1):c.4168C>A (p.Pro1390Thr) rs191645600 0.00061
NM_017617.5(NOTCH1):c.311A>G (p.Asn104Ser) rs199654211 0.00060
NM_017617.5(NOTCH1):c.3835C>T (p.Arg1279Cys) rs182330532 0.00058
NM_017617.5(NOTCH1):c.4917C>T (p.Ala1639=) rs371365065 0.00058
NM_017617.5(NOTCH1):c.7606G>A (p.Val2536Ile) rs111627256 0.00057
NM_017617.5(NOTCH1):c.2136C>A (p.Thr712=) rs369346436 0.00053
NM_017617.5(NOTCH1):c.3249C>T (p.Cys1083=) rs139994842 0.00053
NM_017617.5(NOTCH1):c.140+17C>T rs377269443 0.00050
NM_017617.5(NOTCH1):c.4930C>T (p.Leu1644=) rs568700183 0.00046
NM_017617.5(NOTCH1):c.7390C>T (p.Leu2464=) rs372760677 0.00045
NM_017617.5(NOTCH1):c.1553C>T (p.Thr518Met) rs377535397 0.00044
NM_017617.5(NOTCH1):c.3831C>T (p.Asp1277=) rs374989581 0.00044
NM_017617.5(NOTCH1):c.3644-4G>A rs376161552 0.00040
NM_017617.5(NOTCH1):c.2646A>T (p.Ala882=) rs61751550 0.00038
NM_017617.5(NOTCH1):c.3326-11A>C rs377648586 0.00038
NM_017617.5(NOTCH1):c.2495C>T (p.Pro832Leu) rs559917218 0.00037
NM_017617.5(NOTCH1):c.7369C>G (p.Leu2457Val) rs61755043 0.00037
NM_017617.5(NOTCH1):c.4014G>A (p.Ala1338=) rs377217445 0.00035
NM_017617.5(NOTCH1):c.432C>T (p.Cys144=) rs373713957 0.00035
NM_017617.5(NOTCH1):c.1038C>T (p.His346=) rs376951155 0.00033
NM_017617.5(NOTCH1):c.186G>C (p.Pro62=) rs374320445 0.00031
NM_017617.5(NOTCH1):c.4548C>T (p.Phe1516=) rs199740882 0.00029
NM_017617.5(NOTCH1):c.1100-8C>T rs545088400 0.00028
NM_017617.5(NOTCH1):c.4407C>T (p.Asn1469=) rs202231073 0.00028
NM_017617.5(NOTCH1):c.5638+19A>G rs368675083 0.00026
NM_017617.5(NOTCH1):c.1950C>T (p.Cys650=) rs147086700 0.00024
NM_017617.5(NOTCH1):c.6975T>C (p.Pro2325=) rs200814776 0.00024
NM_017617.5(NOTCH1):c.2349C>T (p.Phe783=) rs200092299 0.00022
NM_017617.5(NOTCH1):c.2970-9C>T rs568052902 0.00021
NM_017617.5(NOTCH1):c.1787C>T (p.Thr596Met) rs61755997 0.00020
NM_017617.5(NOTCH1):c.2353+13C>T rs200756000 0.00020
NM_017617.5(NOTCH1):c.3198G>A (p.Ser1066=) rs199892488 0.00020
NM_017617.5(NOTCH1):c.5384+14G>A rs755122664 0.00019
NM_017617.5(NOTCH1):c.6685G>A (p.Val2229Met) rs202096917 0.00019
NM_017617.5(NOTCH1):c.7090A>G (p.Ser2364Gly) rs201045092 0.00019
NM_017617.5(NOTCH1):c.3553G>A (p.Asp1185Asn) rs548083258 0.00017
NM_017617.5(NOTCH1):c.1689C>T (p.Cys563=) rs760548976 0.00016
NM_017617.5(NOTCH1):c.3011C>T (p.Ser1004Leu) rs201163739 0.00016
NM_017617.5(NOTCH1):c.3288G>C (p.Val1096=) rs374944458 0.00016
NM_017617.5(NOTCH1):c.839A>G (p.Asn280Ser) rs367825691 0.00016
NM_017617.5(NOTCH1):c.*5C>T rs746945124 0.00014
NM_017617.5(NOTCH1):c.2354-5T>C rs371944522 0.00014
NM_017617.5(NOTCH1):c.4988G>A (p.Arg1663Gln) rs749490844 0.00014
NM_017617.5(NOTCH1):c.631A>G (p.Thr211Ala) rs376902925 0.00014
NM_017617.5(NOTCH1):c.6376G>A (p.Gly2126Arg) rs572960572 0.00014
NM_017617.5(NOTCH1):c.6509G>A (p.Ser2170Asn) rs200254239 0.00014
NM_017617.5(NOTCH1):c.1699A>G (p.Ile567Val) rs369067940 0.00013
NM_017617.5(NOTCH1):c.4290C>T (p.Tyr1430=) rs78857347 0.00013
NM_017617.5(NOTCH1):c.1670-19C>T rs377686947 0.00012
NM_017617.5(NOTCH1):c.5676G>A (p.Gly1892=) rs763584589 0.00012
NM_017617.5(NOTCH1):c.5472+9C>T rs200788026 0.00011
NM_017617.5(NOTCH1):c.7400C>T (p.Ser2467Leu) rs375025242 0.00011
NM_017617.5(NOTCH1):c.1295C>T (p.Thr432Met) rs200562991 0.00010
NM_017617.5(NOTCH1):c.3771G>A (p.Pro1257=) rs536479643 0.00010
NM_017617.5(NOTCH1):c.4458C>G (p.Pro1486=) rs747236263 0.00010
NM_017617.5(NOTCH1):c.6788G>A (p.Arg2263Gln) rs200521815 0.00010
NM_017617.5(NOTCH1):c.390G>A (p.Pro130=) rs61751559 0.00009
NM_017617.5(NOTCH1):c.4586+10C>T rs760225110 0.00009
NM_017617.5(NOTCH1):c.5018+13C>T rs752508890 0.00009
NM_017617.5(NOTCH1):c.5019-6G>A rs978561896 0.00009
NM_017617.5(NOTCH1):c.2295C>T (p.Gly765=) rs144066379 0.00008
NM_017617.5(NOTCH1):c.3171+9G>A rs377541723 0.00008
NM_017617.5(NOTCH1):c.2388G>A (p.Ala796=) rs561956078 0.00007
NM_017617.5(NOTCH1):c.3853G>A (p.Val1285Met) rs756972680 0.00007
NM_017617.5(NOTCH1):c.4506C>T (p.Asp1502=) rs751191827 0.00007
NM_017617.5(NOTCH1):c.4795G>A (p.Val1599Met) rs543770603 0.00007
NM_017617.5(NOTCH1):c.5682C>T (p.Gly1894=) rs541372272 0.00007
NM_017617.5(NOTCH1):c.6283C>T (p.Arg2095Cys) rs780873661 0.00007
NM_017617.5(NOTCH1):c.2108G>A (p.Arg703His) rs561126575 0.00006
NM_017617.5(NOTCH1):c.2640C>T (p.His880=) rs374946182 0.00006
NM_017617.5(NOTCH1):c.5718G>A (p.Ala1906=) rs369730620 0.00006
NM_017617.5(NOTCH1):c.7251G>A (p.Pro2417=) rs368498380 0.00006
NM_017617.5(NOTCH1):c.4143C>T (p.Pro1381=) rs539950718 0.00005
NM_017617.5(NOTCH1):c.4328C>T (p.Pro1443Leu) rs750010764 0.00005
NM_017617.5(NOTCH1):c.4635C>T (p.Cys1545=) rs775752102 0.00005
NM_017617.5(NOTCH1):c.4656G>A (p.Ala1552=) rs375091696 0.00005
NM_017617.5(NOTCH1):c.5091C>T (p.Thr1697=) rs775882968 0.00005
NM_017617.5(NOTCH1):c.963C>T (p.Cys321=) rs201158068 0.00005
NM_017617.5(NOTCH1):c.*7C>T rs758237894 0.00004
NM_017617.5(NOTCH1):c.1903+10C>G rs375704312 0.00004
NM_017617.5(NOTCH1):c.2576C>T (p.Thr859Met) rs199505287 0.00004
NM_017617.5(NOTCH1):c.3513C>T (p.Cys1171=) rs758860870 0.00004
NM_017617.5(NOTCH1):c.3900C>T (p.Thr1300=) rs201791826 0.00004
NM_017617.5(NOTCH1):c.4185C>T (p.Asn1395=) rs749570626 0.00004
NM_017617.5(NOTCH1):c.5168-4G>A rs751709616 0.00004
NM_017617.5(NOTCH1):c.7386C>T (p.Pro2462=) rs369470875 0.00004
NM_017617.5(NOTCH1):c.7401G>A (p.Ser2467=) rs371306178 0.00004
NM_017617.5(NOTCH1):c.7653G>A (p.Pro2551=) rs759443061 0.00004
NM_017617.5(NOTCH1):c.1669+15C>T rs576849563 0.00003
NM_017617.5(NOTCH1):c.1863C>T (p.Arg621=) rs749374016 0.00003
NM_017617.5(NOTCH1):c.2740+15G>A rs1399805738 0.00003
NM_017617.5(NOTCH1):c.2754C>T (p.Asn918=) rs373787791 0.00003
NM_017617.5(NOTCH1):c.2995G>A (p.Val999Met) rs756840659 0.00003
NM_017617.5(NOTCH1):c.3245G>A (p.Arg1082His) rs758471372 0.00003
NM_017617.5(NOTCH1):c.3405G>A (p.Ala1135=) rs192914380 0.00003
NM_017617.5(NOTCH1):c.4587-12C>T rs747774591 0.00003
NM_017617.5(NOTCH1):c.5901G>A (p.Ala1967=) rs762092431 0.00003
NM_017617.5(NOTCH1):c.597C>T (p.Val199=) rs747342494 0.00003
NM_017617.5(NOTCH1):c.6377G>C (p.Gly2126Ala) rs776496915 0.00003
NM_017617.5(NOTCH1):c.6481C>T (p.Pro2161Ser) rs201518848 0.00003
NM_017617.5(NOTCH1):c.7377G>A (p.Gln2459=) rs1317170488 0.00003
NM_017617.5(NOTCH1):c.1801G>A (p.Glu601Lys) rs749381544 0.00002
NM_017617.5(NOTCH1):c.2261A>G (p.Asn754Ser) rs761072761 0.00002
NM_017617.5(NOTCH1):c.2835C>G (p.Asp945Glu) rs756174213 0.00002
NM_017617.5(NOTCH1):c.2896A>G (p.Ser966Gly) rs745928497 0.00002
NM_017617.5(NOTCH1):c.393C>T (p.Pro131=) rs1250243662 0.00002
NM_017617.5(NOTCH1):c.4080C>T (p.Gly1360=) rs745455844 0.00002
NM_017617.5(NOTCH1):c.4348G>A (p.Glu1450Lys) rs147841035 0.00002
NM_017617.5(NOTCH1):c.5916C>T (p.Asp1972=) rs1045892978 0.00002
NM_017617.5(NOTCH1):c.61+19G>A rs957002412 0.00002
NM_017617.5(NOTCH1):c.6749C>T (p.Ala2250Val) rs777809068 0.00002
NM_017617.5(NOTCH1):c.7326C>T (p.Asp2442=) rs774079994 0.00002
NM_017617.5(NOTCH1):c.1266C>G (p.Pro422=) rs762533002 0.00001
NM_017617.5(NOTCH1):c.140+14C>T rs749885017 0.00001
NM_017617.5(NOTCH1):c.1670-7G>T rs1242028632 0.00001
NM_017617.5(NOTCH1):c.1788G>A (p.Thr596=) rs925293836 0.00001
NM_017617.5(NOTCH1):c.1972A>G (p.Lys658Glu) rs1260932753 0.00001
NM_017617.5(NOTCH1):c.2127C>T (p.His709=) rs755898711 0.00001
NM_017617.5(NOTCH1):c.2626A>G (p.Ser876Gly) rs1291929434 0.00001
NM_017617.5(NOTCH1):c.3075C>T (p.Cys1025=) rs764208271 0.00001
NM_017617.5(NOTCH1):c.3190G>A (p.Asp1064Asn) rs375931404 0.00001
NM_017617.5(NOTCH1):c.3326-12C>T rs1346042597 0.00001
NM_017617.5(NOTCH1):c.3404C>T (p.Ala1135Val) rs370300490 0.00001
NM_017617.5(NOTCH1):c.3643+9C>T rs764985096 0.00001
NM_017617.5(NOTCH1):c.3723C>T (p.Asn1241=) rs369637862 0.00001
NM_017617.5(NOTCH1):c.3988C>T (p.Arg1330Cys) rs1249540119 0.00001
NM_017617.5(NOTCH1):c.3990C>T (p.Arg1330=) rs775448292 0.00001
NM_017617.5(NOTCH1):c.4014+8C>G rs748956877 0.00001
NM_017617.5(NOTCH1):c.4136C>T (p.Thr1379Met) rs764123906 0.00001
NM_017617.5(NOTCH1):c.429G>A (p.Pro143=) rs757406877 0.00001
NM_017617.5(NOTCH1):c.4309G>A (p.Gly1437Arg) rs780500109 0.00001
NM_017617.5(NOTCH1):c.4428C>T (p.Gly1476=) rs765751888 0.00001
NM_017617.5(NOTCH1):c.453C>T (p.Asn151=) rs368733465 0.00001
NM_017617.5(NOTCH1):c.4543C>T (p.Leu1515Phe) rs765839822 0.00001
NM_017617.5(NOTCH1):c.4571C>T (p.Ala1524Val) rs774374213 0.00001
NM_017617.5(NOTCH1):c.4655C>T (p.Ala1552Val) rs748862853 0.00001
NM_017617.5(NOTCH1):c.4911C>T (p.Gly1637=) rs953232466 0.00001
NM_017617.5(NOTCH1):c.5446G>A (p.Glu1816Lys) rs763140976 0.00001
NM_017617.5(NOTCH1):c.5572A>C (p.Met1858Leu) rs779337715 0.00001
NM_017617.5(NOTCH1):c.5805C>T (p.Ala1935=) rs774693459 0.00001
NM_017617.5(NOTCH1):c.6205G>A (p.Ala2069Thr) rs567909904 0.00001
NM_017617.5(NOTCH1):c.6743A>C (p.Asn2248Thr) rs1554826464 0.00001
NM_017617.5(NOTCH1):c.6768G>A (p.Ala2256=) rs575575412 0.00001
NM_017617.5(NOTCH1):c.7047G>A (p.Pro2349=) rs775336930 0.00001
NM_017617.5(NOTCH1):c.7138G>A (p.Val2380Met) rs769693988 0.00001
NM_017617.5(NOTCH1):c.7472C>A (p.Ser2491Tyr) rs757165853 0.00001
NM_017617.5(NOTCH1):c.7584C>T (p.Asn2528=) rs778937268 0.00001
NM_017617.5(NOTCH1):c.7590C>T (p.Ser2530=) rs371067732 0.00001
NM_017617.5(NOTCH1):c.7667A>G (p.Ter2556=) rs190691338 0.00001
NM_017617.5(NOTCH1):c.1342C>T (p.Arg448Ter) rs869025494
NM_017617.5(NOTCH1):c.1441+11C>T rs376506127
NM_017617.5(NOTCH1):c.1903+7G>T rs760116150
NM_017617.5(NOTCH1):c.1904-20G>C rs762328294
NM_017617.5(NOTCH1):c.2014+17G>A rs117807334
NM_017617.5(NOTCH1):c.2049G>C (p.Ala683=) rs61751553
NM_017617.5(NOTCH1):c.2354-16G>C rs1843210355
NM_017617.5(NOTCH1):c.2467+14G>A
NM_017617.5(NOTCH1):c.2496G>T (p.Pro832=) rs61751551
NM_017617.5(NOTCH1):c.2527G>A (p.Glu843Lys) rs750170645
NM_017617.5(NOTCH1):c.2558_2560del (p.Phe853del) rs779164170
NM_017617.5(NOTCH1):c.3260G>A (p.Ser1087Asn) rs1843122224
NM_017617.5(NOTCH1):c.3372C>T (p.Asp1124=) rs530959956
NM_017617.5(NOTCH1):c.4014+12G>A
NM_017617.5(NOTCH1):c.4015-7C>G rs761783451
NM_017617.5(NOTCH1):c.4031C>G (p.Thr1344Arg) rs201215245
NM_017617.5(NOTCH1):c.4031C>T (p.Thr1344Met) rs201215245
NM_017617.5(NOTCH1):c.4049G>T (p.Arg1350Leu) rs150343794
NM_017617.5(NOTCH1):c.4586+18A>T rs2540436731
NM_017617.5(NOTCH1):c.483C>T (p.Ser161=) rs2540468462
NM_017617.5(NOTCH1):c.5019-13_5019-10del rs374419074
NM_017617.5(NOTCH1):c.5136C>T (p.Leu1712=)
NM_017617.5(NOTCH1):c.5215G>A (p.Val1739Met) rs377294245
NM_017617.5(NOTCH1):c.5402C>G (p.Ser1801Ter) rs376236888
NM_017617.5(NOTCH1):c.5897A>T (p.His1966Leu)
NM_017617.5(NOTCH1):c.6257A>G (p.Asn2086Ser) rs201058656
NM_017617.5(NOTCH1):c.6396G>C (p.Thr2132=) rs554843595
NM_017617.5(NOTCH1):c.6454G>C (p.Gly2152Arg) rs116317506
NM_017617.5(NOTCH1):c.6496C>T (p.Leu2166=) rs2133318278
NM_017617.5(NOTCH1):c.7072G>A (p.Ala2358Thr) rs780869345
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.7575G>C (p.Pro2525=) rs375576856
NM_017617.5(NOTCH1):c.7641C>A (p.Ile2547=) rs370124241
NM_017617.5(NOTCH1):c.903G>A (p.Leu301=)

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