ClinVar Miner

List of variants in gene NOTCH1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1116
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HGVS dbSNP
GRCh37/hg19 9q34.3(chr9:139390822-139391737)x1
GRCh37/hg19 9q34.3(chr9:139390822-139403378)x1
NC_000009.12:g.136508789dup
NC_000009.12:g.136515849_136515856del
NM_017617.5(NOTCH1):c.*5C>T rs746945124
NM_017617.5(NOTCH1):c.*6G>A rs73668310
NM_017617.5(NOTCH1):c.-152T>C
NM_017617.5(NOTCH1):c.-6G>T
NM_017617.5(NOTCH1):c.102C>T (p.Gly34=)
NM_017617.5(NOTCH1):c.1038C>T (p.His346=) rs376951155
NM_017617.5(NOTCH1):c.1041C>T (p.Gly347=)
NM_017617.5(NOTCH1):c.1045A>C (p.Thr349Pro) rs200520088
NM_017617.5(NOTCH1):c.1077C>T (p.Cys359=) rs202235419
NM_017617.5(NOTCH1):c.1093C>T (p.Arg365Cys) rs1064795070
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.1099+9C>T rs1057523772
NM_017617.5(NOTCH1):c.1100-140G>A
NM_017617.5(NOTCH1):c.1100-141C>G
NM_017617.5(NOTCH1):c.1100-14C>T rs562148507
NM_017617.5(NOTCH1):c.1100-16G>C rs146815871
NM_017617.5(NOTCH1):c.1100-7T>C rs376603720
NM_017617.5(NOTCH1):c.1100-85T>C
NM_017617.5(NOTCH1):c.1100-8C>T rs545088400
NM_017617.5(NOTCH1):c.1109G>A (p.Cys370Tyr) rs1564199987
NM_017617.5(NOTCH1):c.1122C>T (p.Asp374=) rs192683347
NM_017617.5(NOTCH1):c.1125A>G (p.Ala375=) rs371954544
NM_017617.5(NOTCH1):c.1146C>T (p.Asn382=) rs368665838
NM_017617.5(NOTCH1):c.114A>G (p.Glu38=) rs375506915
NM_017617.5(NOTCH1):c.1162G>A (p.Asp388Asn) rs1290954710
NM_017617.5(NOTCH1):c.1185G>A (p.Lys395=) rs774399901
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.123T>C (p.Asn41=) rs1207676067
NM_017617.5(NOTCH1):c.1250C>T (p.Ser417Leu) rs757631575
NM_017617.5(NOTCH1):c.1255+15_1255+16del
NM_017617.5(NOTCH1):c.1255+9C>T rs775401272
NM_017617.5(NOTCH1):c.1256-5G>A rs773981257
NM_017617.5(NOTCH1):c.1256-8C>G rs1052776009
NM_017617.5(NOTCH1):c.1262A>G (p.Asn421Ser) rs928512979
NM_017617.5(NOTCH1):c.1269C>T (p.Cys423=)
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.1278G>A (p.Ala426=) rs781782610
NM_017617.5(NOTCH1):c.1285T>C (p.Cys429Arg) rs587777736
NM_017617.5(NOTCH1):c.128C>T (p.Thr43Met) rs371103280
NM_017617.5(NOTCH1):c.1293C>T (p.Asn431=) rs372751855
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.1342C>T (p.Arg448Ter) rs869025494
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.1363G>C (p.Glu455Gln) rs1554729950
NM_017617.5(NOTCH1):c.1367G>A (p.Cys456Tyr) rs864622058
NM_017617.5(NOTCH1):c.1369G>A (p.Val457Ile)
NM_017617.5(NOTCH1):c.1374G>A (p.Ser458=) rs886039016
NM_017617.5(NOTCH1):c.1380G>A (p.Pro460=) rs368963607
NM_017617.5(NOTCH1):c.1389C>T (p.Asn463=) rs61733293
NM_017617.5(NOTCH1):c.1393G>A (p.Ala465Thr) rs1057523819
NM_017617.5(NOTCH1):c.1396del (p.Thr466fs) rs1564199476
NM_017617.5(NOTCH1):c.140+20del rs751297042
NM_017617.5(NOTCH1):c.140+257A>T
NM_017617.5(NOTCH1):c.140+71G>A
NM_017617.5(NOTCH1):c.1407C>T (p.Asp469=)
NM_017617.5(NOTCH1):c.141-230T>C
NM_017617.5(NOTCH1):c.141-2A>T rs1554730758
NM_017617.5(NOTCH1):c.1440C>T (p.Pro480=) rs61751555
NM_017617.5(NOTCH1):c.1441+11C>A rs376506127
NM_017617.5(NOTCH1):c.1441+131A>G
NM_017617.5(NOTCH1):c.1441+18A>G rs760171880
NM_017617.5(NOTCH1):c.1441+4C>T rs764082065
NM_017617.5(NOTCH1):c.1441+7C>T rs9411208
NM_017617.5(NOTCH1):c.1441+8G>A rs765031085
NM_017617.5(NOTCH1):c.1441G>C (p.Gly481Arg) rs1448146225
NM_017617.5(NOTCH1):c.1442-12C>T rs1241878638
NM_017617.5(NOTCH1):c.1442-3C>T
NM_017617.5(NOTCH1):c.1442-43C>T
NM_017617.5(NOTCH1):c.1446C>T (p.Tyr482=) rs757373430
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.1511G>A (p.Arg504His) rs201768800
NM_017617.5(NOTCH1):c.1512C>A (p.Arg504=)
NM_017617.5(NOTCH1):c.1514G>A (p.Cys505Tyr) rs1060502240
NM_017617.5(NOTCH1):c.152C>A (p.Ala51Asp)
NM_017617.5(NOTCH1):c.1539G>C (p.Gln513His)
NM_017617.5(NOTCH1):c.153C>T (p.Ala51=) rs748048002
NM_017617.5(NOTCH1):c.1543G>C (p.Glu515Gln) rs749085650
NM_017617.5(NOTCH1):c.1553C>T (p.Thr518Met) rs377535397
NM_017617.5(NOTCH1):c.1554G>A (p.Thr518=) rs190721271
NM_017617.5(NOTCH1):c.1555+102C>T
NM_017617.5(NOTCH1):c.1555+10A>G rs11145767
NM_017617.5(NOTCH1):c.1555+16G>A rs368798926
NM_017617.5(NOTCH1):c.1555+245C>T
NM_017617.5(NOTCH1):c.1555+272C>T
NM_017617.5(NOTCH1):c.1555+60G>T
NM_017617.5(NOTCH1):c.1556-12C>T rs1554729635
NM_017617.5(NOTCH1):c.1556-133A>G
NM_017617.5(NOTCH1):c.1556-43T>C
NM_017617.5(NOTCH1):c.1556-9C>T rs150834418
NM_017617.5(NOTCH1):c.1567C>T (p.His523Tyr) rs572103199
NM_017617.5(NOTCH1):c.156C>T (p.Phe52=) rs536299678
NM_017617.5(NOTCH1):c.157G>A (p.Val53Met) rs757497167
NM_017617.5(NOTCH1):c.1581C>T (p.Tyr527=) rs1299929890
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.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+13G>A rs147260092
NM_017617.5(NOTCH1):c.1669+16C>T
NM_017617.5(NOTCH1):c.1669+5G>A rs771590616
NM_017617.5(NOTCH1):c.1669+9T>C rs3125006
NM_017617.5(NOTCH1):c.166C>T (p.Arg56Ter) rs1348892740
NM_017617.5(NOTCH1):c.1670-10_1670-9inv rs1060502241
NM_017617.5(NOTCH1):c.1670-18G>A rs375041394
NM_017617.5(NOTCH1):c.1670-19C>T rs377686947
NM_017617.5(NOTCH1):c.1670-9A>G rs3124603
NM_017617.5(NOTCH1):c.1680G>A (p.Gly560=) rs1057524117
NM_017617.5(NOTCH1):c.1682C>T (p.Thr561Met)
NM_017617.5(NOTCH1):c.1689C>T (p.Cys563=) rs760548976
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) rs1564217184
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.1702G>A (p.Asp568Asn) rs562413261
NM_017617.5(NOTCH1):c.1711G>A (p.Asp571Asn) rs373125283
NM_017617.5(NOTCH1):c.1712A>C (p.Asp571Ala) rs1008678112
NM_017617.5(NOTCH1):c.1718A>C (p.Asp573Ala) rs890104857
NM_017617.5(NOTCH1):c.1725C>T (p.Cys575=) rs369070550
NM_017617.5(NOTCH1):c.1731C>T (p.Tyr577=)
NM_017617.5(NOTCH1):c.1741A>G (p.Lys581Glu) rs778992111
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.1752C>T (p.Val584=) rs902251832
NM_017617.5(NOTCH1):c.1753G>A (p.Ala585Thr) rs775217381
NM_017617.5(NOTCH1):c.1754C>T (p.Ala585Val) rs587778557
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.1788G>A (p.Thr596=) rs925293836
NM_017617.5(NOTCH1):c.1792C>T (p.His598Tyr)
NM_017617.5(NOTCH1):c.17_18delinsTT (p.Ala6Val) rs878855023
NM_017617.5(NOTCH1):c.1800C>T (p.Cys600=)
NM_017617.5(NOTCH1):c.1801G>A (p.Glu601Lys)
NM_017617.5(NOTCH1):c.1815C>G (p.Asn605Lys)
NM_017617.5(NOTCH1):c.1815C>T (p.Asn605=) rs781029850
NM_017617.5(NOTCH1):c.1837C>T (p.Arg613Cys) rs763988265
NM_017617.5(NOTCH1):c.1843G>A (p.Gly615Arg)
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)
NM_017617.5(NOTCH1):c.1869C>T (p.Asn623=)
NM_017617.5(NOTCH1):c.186G>C (p.Pro62=) rs374320445
NM_017617.5(NOTCH1):c.1870G>A (p.Ala624Thr) rs372771179
NM_017617.5(NOTCH1):c.18G>A (p.Ala6=) rs752471556
NM_017617.5(NOTCH1):c.1903+10C>G rs375704312
NM_017617.5(NOTCH1):c.1903+17G>T rs762205505
NM_017617.5(NOTCH1):c.1903+6C>T rs753388966
NM_017617.5(NOTCH1):c.1904-16C>T rs775848413
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.1929T>C (p.Asp643=) rs527323201
NM_017617.5(NOTCH1):c.1933_1934TG[1] (p.Ala646fs) rs1554729443
NM_017617.5(NOTCH1):c.1950C>T (p.Cys650=) rs147086700
NM_017617.5(NOTCH1):c.1953C>T (p.Asp651=) rs752168856
NM_017617.5(NOTCH1):c.1956G>A (p.Ser652=) rs376101458
NM_017617.5(NOTCH1):c.1956G>T (p.Ser652=)
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.1977C>A (p.Ile659=)
NM_017617.5(NOTCH1):c.197C>T (p.Thr66Ile) rs752133245
NM_017617.5(NOTCH1):c.1981G>A (p.Gly661Ser) rs201077220
NM_017617.5(NOTCH1):c.19C>T (p.Pro7Ser) rs1397523469
NM_017617.5(NOTCH1):c.2005G>C (p.Gly669Arg) rs778394191
NM_017617.5(NOTCH1):c.2014+16C>T rs199814619
NM_017617.5(NOTCH1):c.2014+1G>A rs515726232
NM_017617.5(NOTCH1):c.2014+6C>T rs529806324
NM_017617.5(NOTCH1):c.2014+7G>A rs562353347
NM_017617.5(NOTCH1):c.2015-13G>C rs772867940
NM_017617.5(NOTCH1):c.2015-14C>T rs149013721
NM_017617.5(NOTCH1):c.2021T>C (p.Met674Thr) rs587782970
NM_017617.5(NOTCH1):c.2023del (p.Cys675fs) rs1064795976
NM_017617.5(NOTCH1):c.2037C>T (p.Ile679=) rs367591933
NM_017617.5(NOTCH1):c.2047G>A (p.Ala683Thr) rs756434709
NM_017617.5(NOTCH1):c.2049G>A (p.Ala683=) rs61751553
NM_017617.5(NOTCH1):c.2054A>C (p.Asn685Thr) rs781473342
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.2085C>T (p.Asp695=) rs200573958
NM_017617.5(NOTCH1):c.20C>T (p.Pro7Leu) rs1554733804
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.210C>T (p.Asn70=) rs763414200
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.2127C>T (p.His709=) rs755898711
NM_017617.5(NOTCH1):c.2134A>G (p.Thr712Ala)
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.2191C>T (p.Arg731Trp) rs199666126
NM_017617.5(NOTCH1):c.2192G>A (p.Arg731Gln) rs587778558
NM_017617.5(NOTCH1):c.2205C>T (p.Asn735=) rs2229970
NM_017617.5(NOTCH1):c.2206G>A (p.Gly736Arg) rs201662530
NM_017617.5(NOTCH1):c.2207+10G>A rs191892426
NM_017617.5(NOTCH1):c.2207+15C>T rs187086513
NM_017617.5(NOTCH1):c.2207+16G>A rs200956009
NM_017617.5(NOTCH1):c.2207+206T>C
NM_017617.5(NOTCH1):c.2207+5G>A rs1214619547
NM_017617.5(NOTCH1):c.2207+70G>A
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) rs1284149123
NM_017617.5(NOTCH1):c.2244C>A (p.Thr748=) rs1344101185
NM_017617.5(NOTCH1):c.2247C>G (p.Asn749Lys) rs587778560
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.2266G>A (p.Glu756Lys) rs1271941628
NM_017617.5(NOTCH1):c.2291A>G (p.Asn764Ser) rs1454630791
NM_017617.5(NOTCH1):c.2292C>T (p.Asn764=) rs775201110
NM_017617.5(NOTCH1):c.2295C>T (p.Gly765=) rs144066379
NM_017617.5(NOTCH1):c.2297G>T (p.Gly766Val) rs374434131
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.2326G>T (p.Val776Leu)
NM_017617.5(NOTCH1):c.2338C>T (p.Arg780Trp) rs756642176
NM_017617.5(NOTCH1):c.2340G>A (p.Arg780=) rs767935604
NM_017617.5(NOTCH1):c.2352C>T (p.Ser784=) rs774701000
NM_017617.5(NOTCH1):c.2353+13C>T rs200756000
NM_017617.5(NOTCH1):c.2353+14G>A rs140288481
NM_017617.5(NOTCH1):c.2353+15C>T rs773271446
NM_017617.5(NOTCH1):c.2354-14C>A
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.235C>T (p.Arg79Cys) rs761439288
NM_017617.5(NOTCH1):c.2363G>T (p.Cys788Phe)
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.2377_2379del (p.Asn793del) rs587778561
NM_017617.5(NOTCH1):c.2380G>T (p.Glu794Ter) rs1554729113
NM_017617.5(NOTCH1):c.2380del (p.Glu794fs) rs863224901
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.2427C>T (p.Asp809=) rs775162462
NM_017617.5(NOTCH1):c.2434G>A (p.Gly812Arg) rs201620755
NM_017617.5(NOTCH1):c.2439C>G (p.Tyr813Ter) rs1057515422
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.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.244G>T (p.Val82Leu)
NM_017617.5(NOTCH1):c.2452C>T (p.Leu818=)
NM_017617.5(NOTCH1):c.2458C>T (p.Pro820Ser) rs1379596542
NM_017617.5(NOTCH1):c.2467+177G>A
NM_017617.5(NOTCH1):c.2467+21G>A
NM_017617.5(NOTCH1):c.2467+28A>G
NM_017617.5(NOTCH1):c.2467+34C>G
NM_017617.5(NOTCH1):c.2468-197C>T
NM_017617.5(NOTCH1):c.2468-19G>A rs116515776
NM_017617.5(NOTCH1):c.2468-287G>A
NM_017617.5(NOTCH1):c.246G>C (p.Val82=) rs1055942607
NM_017617.5(NOTCH1):c.2473A>G (p.Thr825Ala) rs587778562
NM_017617.5(NOTCH1):c.2495C>T (p.Pro832Leu) rs559917218
NM_017617.5(NOTCH1):c.2496G>A (p.Pro832=) rs61751551
NM_017617.5(NOTCH1):c.2496G>T (p.Pro832=) rs61751551
NM_017617.5(NOTCH1):c.2500G>T (p.Ala834Ser) rs1554728847
NM_017617.5(NOTCH1):c.2501C>G (p.Ala834Gly) rs202144877
NM_017617.5(NOTCH1):c.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.2514C>T (p.Cys838=) rs1554728839
NM_017617.5(NOTCH1):c.2521G>A (p.Gly841Ser) rs369259434
NM_017617.5(NOTCH1):c.2542G>A (p.Glu848Lys) rs35136134
NM_017617.5(NOTCH1):c.2558_2560del (p.Phe853del) rs779164170
NM_017617.5(NOTCH1):c.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.2587+103T>C
NM_017617.5(NOTCH1):c.2587+20G>A rs148381982
NM_017617.5(NOTCH1):c.2588-104T>C
NM_017617.5(NOTCH1):c.2588-16T>G rs781139940
NM_017617.5(NOTCH1):c.2588-2A>C rs1057521857
NM_017617.5(NOTCH1):c.2588-4G>A rs3125001
NM_017617.5(NOTCH1):c.2588-93C>T
NM_017617.5(NOTCH1):c.2588-9G>T rs757973986
NM_017617.5(NOTCH1):c.2604C>T (p.Val868=) rs115235667
NM_017617.5(NOTCH1):c.2611A>G (p.Asn871Asp)
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.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.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)
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.2705G>A (p.Arg902His) rs373075482
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)
NM_017617.5(NOTCH1):c.2727C>T (p.Asp909=) rs752854629
NM_017617.5(NOTCH1):c.2728G>A (p.Asp910Asn)
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp) rs201620358
NM_017617.5(NOTCH1):c.2740+128G>A
NM_017617.5(NOTCH1):c.2740+12C>T rs36119806
NM_017617.5(NOTCH1):c.2740+187C>T
NM_017617.5(NOTCH1):c.2740+188G>A
NM_017617.5(NOTCH1):c.2740+295C>T
NM_017617.5(NOTCH1):c.2741-12G>A rs370769571
NM_017617.5(NOTCH1):c.2741-13C>G rs545249713
NM_017617.5(NOTCH1):c.2743C>G (p.Pro915Ala) rs878855024
NM_017617.5(NOTCH1):c.2744C>T (p.Pro915Leu)
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.2772C>T (p.Asp924=)
NM_017617.5(NOTCH1):c.2784G>A (p.Thr928=) rs200082362
NM_017617.5(NOTCH1):c.2793C>T (p.Cys931=) rs557156741
NM_017617.5(NOTCH1):c.2805C>T (p.Pro935=) rs200332386
NM_017617.5(NOTCH1):c.2806G>A (p.Gly936Ser) rs773847667
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.2825G>A (p.Cys942Tyr) rs1554728658
NM_017617.5(NOTCH1):c.2853T>C (p.Ser951=) rs1554728656
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)
NM_017617.5(NOTCH1):c.2868C>T (p.Asn956=) rs760227470
NM_017617.5(NOTCH1):c.2882C>T (p.Thr961Met) rs377343669
NM_017617.5(NOTCH1):c.2908A>G (p.Thr970Ala)
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.2951C>T (p.Thr984Met) rs769132985
NM_017617.5(NOTCH1):c.2969+13C>T rs7864720
NM_017617.5(NOTCH1):c.2969+14G>A rs112192550
NM_017617.5(NOTCH1):c.2969+182C>T
NM_017617.5(NOTCH1):c.2969+308C>T
NM_017617.5(NOTCH1):c.2970-20G>A rs367927174
NM_017617.5(NOTCH1):c.2970-31A>G
NM_017617.5(NOTCH1):c.2970-9C>T rs568052902
NM_017617.5(NOTCH1):c.2981A>G (p.Asn994Ser) rs587778564
NM_017617.5(NOTCH1):c.2983G>A (p.Gly995Ser)
NM_017617.5(NOTCH1):c.3001G>A (p.Gly1001Ser) rs763621169
NM_017617.5(NOTCH1):c.3011C>T (p.Ser1004Leu)
NM_017617.5(NOTCH1):c.3012G>A (p.Ser1004=) rs371301397
NM_017617.5(NOTCH1):c.3015C>T (p.Phe1005=) rs991348745
NM_017617.5(NOTCH1):c.301C>A (p.Pro101Thr)
NM_017617.5(NOTCH1):c.3034G>A (p.Gly1012Ser) rs776957107
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.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.312T>C (p.Asn104=) rs4489420
NM_017617.5(NOTCH1):c.3150C>A (p.Gly1050=) rs1060504523
NM_017617.5(NOTCH1):c.3171+12G>A rs753242532
NM_017617.5(NOTCH1):c.3171+153G>A
NM_017617.5(NOTCH1):c.3171+220A>G
NM_017617.5(NOTCH1):c.3171+54A>G
NM_017617.5(NOTCH1):c.3171+8C>T
NM_017617.5(NOTCH1):c.3171+9G>A rs377541723
NM_017617.5(NOTCH1):c.3172-122T>C
NM_017617.5(NOTCH1):c.3172-12A>G rs547259185
NM_017617.5(NOTCH1):c.3172-5C>T
NM_017617.5(NOTCH1):c.3172-71A>G
NM_017617.5(NOTCH1):c.3190G>A (p.Asp1064Asn) rs375931404
NM_017617.5(NOTCH1):c.3192C>G (p.Asp1064Glu) rs587778565
NM_017617.5(NOTCH1):c.3192C>T (p.Asp1064=) rs587778565
NM_017617.5(NOTCH1):c.3198G>A (p.Ser1066=) rs199892488
NM_017617.5(NOTCH1):c.3211G>A (p.Gly1071Ser) rs587778566
NM_017617.5(NOTCH1):c.3213C>T (p.Gly1071=) rs528993886
NM_017617.5(NOTCH1):c.3231C>G (p.Thr1077=) rs781656729
NM_017617.5(NOTCH1):c.3245G>A (p.Arg1082His)
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.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.328C>T (p.Pro110Ser) rs1064796976
NM_017617.5(NOTCH1):c.3294C>T (p.Ser1098=) rs61751546
NM_017617.5(NOTCH1):c.3315G>T (p.Ala1105=) rs3812602
NM_017617.5(NOTCH1):c.3319C>T (p.Arg1107Ter) rs41309764
NM_017617.5(NOTCH1):c.3320G>A (p.Arg1107Gln) rs756087913
NM_017617.5(NOTCH1):c.3325+10T>C rs1060504526
NM_017617.5(NOTCH1):c.3325+21A>G
NM_017617.5(NOTCH1):c.3326-11A>C rs377648586
NM_017617.5(NOTCH1):c.3326-16A>T rs374731388
NM_017617.5(NOTCH1):c.3333C>T (p.Asp1111=) rs61751545
NM_017617.5(NOTCH1):c.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) rs1399392600
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.3365G>A (p.Cys1122Tyr)
NM_017617.5(NOTCH1):c.3370G>A (p.Asp1124Asn) rs1564192948
NM_017617.5(NOTCH1):c.3373G>A (p.Ala1125Thr)
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.339C>T (p.Asn113=) rs369947231
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=)
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.3486C>T (p.Asp1162=) rs771905237
NM_017617.5(NOTCH1):c.3510+11C>T rs1057524613
NM_017617.5(NOTCH1):c.3510+148G>A
NM_017617.5(NOTCH1):c.3510+3G>A rs372739350
NM_017617.5(NOTCH1):c.3511-10G>A rs139838537
NM_017617.5(NOTCH1):c.3511-11C>T rs201280571
NM_017617.5(NOTCH1):c.3511-175G>A
NM_017617.5(NOTCH1):c.3528C>T (p.His1176=) rs202133782
NM_017617.5(NOTCH1):c.3552C>T (p.Ile1184=) rs773375573
NM_017617.5(NOTCH1):c.3553G>A (p.Asp1185Asn)
NM_017617.5(NOTCH1):c.3555C>T (p.Asp1185=) rs530064649
NM_017617.5(NOTCH1):c.3569A>G (p.His1190Arg)
NM_017617.5(NOTCH1):c.3582C>T (p.Asn1194=) rs746547529
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.3604C>T (p.Pro1202Ser) rs1554728268
NM_017617.5(NOTCH1):c.361A>G (p.Thr121Ala) rs587778570
NM_017617.5(NOTCH1):c.3631C>T (p.Arg1211Trp)
NM_017617.5(NOTCH1):c.3632G>A (p.Arg1211Gln)
NM_017617.5(NOTCH1):c.3638C>G (p.Thr1213Ser) rs750536437
NM_017617.5(NOTCH1):c.3642G>A (p.Gln1214=)
NM_017617.5(NOTCH1):c.3643+10G>A rs1159458812
NM_017617.5(NOTCH1):c.3643+14C>T rs776243821
NM_017617.5(NOTCH1):c.3643+17G>A rs376187570
NM_017617.5(NOTCH1):c.3643+8C>G rs1057523546
NM_017617.5(NOTCH1):c.3644-152G>C
NM_017617.5(NOTCH1):c.3644-17G>A rs139960251
NM_017617.5(NOTCH1):c.3644-4G>A rs376161552
NM_017617.5(NOTCH1):c.3644-5C>T rs371070297
NM_017617.5(NOTCH1):c.3644-79C>T
NM_017617.5(NOTCH1):c.3663C>T (p.Asn1221=) rs780527525
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.3684C>T (p.Pro1228=)
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.3706C>T (p.Pro1236Ser) rs749988739
NM_017617.5(NOTCH1):c.3741G>C (p.Gln1247His)
NM_017617.5(NOTCH1):c.3765C>A (p.Cys1255Ter) rs1057515423
NM_017617.5(NOTCH1):c.3767C>T (p.Pro1256Leu) rs80340744
NM_017617.5(NOTCH1):c.3768G>T (p.Pro1256=) rs779987984
NM_017617.5(NOTCH1):c.376A>G (p.Lys126Glu)
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.3789C>T (p.Arg1263=) rs369004626
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)
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>G (p.Cys1284Trp)
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.3860G>A (p.Arg1287His)
NM_017617.5(NOTCH1):c.3861C>T (p.Arg1287=) rs758031388
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.3887G>A (p.Arg1296His)
NM_017617.5(NOTCH1):c.389C>T (p.Pro130Leu)
NM_017617.5(NOTCH1):c.3901+10G>A rs561404862
NM_017617.5(NOTCH1):c.3901+19C>T rs373752718
NM_017617.5(NOTCH1):c.3901+3G>A rs373113999
NM_017617.5(NOTCH1):c.3901+9C>T rs370537711
NM_017617.5(NOTCH1):c.3901G>A (p.Gly1301Arg) rs1227711223
NM_017617.5(NOTCH1):c.3902-4C>T rs1057524704
NM_017617.5(NOTCH1):c.3908G>A (p.Arg1303His) rs768775024
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.3915G>A (p.Glu1305=) rs1554728133
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)
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.4014+75G>A
NM_017617.5(NOTCH1):c.4014G>A (p.Ala1338=) rs377217445
NM_017617.5(NOTCH1):c.4015-73G>A
NM_017617.5(NOTCH1):c.4015-7C>T rs761783451
NM_017617.5(NOTCH1):c.4016G>C (p.Gly1339Ala) rs1131692021
NM_017617.5(NOTCH1):c.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>G (p.Thr1344Arg) rs201215245
NM_017617.5(NOTCH1):c.4031C>T (p.Thr1344Met) rs201215245
NM_017617.5(NOTCH1):c.404-117T>C
NM_017617.5(NOTCH1):c.404-13C>G rs766360723
NM_017617.5(NOTCH1):c.404-5T>C rs1229789449
NM_017617.5(NOTCH1):c.4045_4052del (p.Ala1349fs) rs1554728034
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.4056C>T (p.Cys1352=) rs200099319
NM_017617.5(NOTCH1):c.4057G>A (p.Gly1353Ser)
NM_017617.5(NOTCH1):c.4064T>C (p.Leu1355Pro)
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.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.4101G>A (p.Pro1367=) rs374921637
NM_017617.5(NOTCH1):c.411G>A (p.Ser137=) rs560826996
NM_017617.5(NOTCH1):c.411G>T (p.Ser137=)
NM_017617.5(NOTCH1):c.4120T>C (p.Cys1374Arg) rs864622060
NM_017617.5(NOTCH1):c.4121G>T (p.Cys1374Phe) rs1064796867
NM_017617.5(NOTCH1):c.4127del (p.Gly1376fs)
NM_017617.5(NOTCH1):c.4129C>T (p.Pro1377Ser) rs61751542
NM_017617.5(NOTCH1):c.4137G>A (p.Thr1379=) rs762733162
NM_017617.5(NOTCH1):c.4141C>T (p.Pro1381Ser)
NM_017617.5(NOTCH1):c.4143C>T (p.Pro1381=) rs539950718
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.4179C>T (p.Gly1393=) rs200664704
NM_017617.5(NOTCH1):c.4185C>T (p.Asn1395=) rs749570626
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.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.4276C>T (p.His1426Tyr) rs587778568
NM_017617.5(NOTCH1):c.4282C>G (p.Leu1428Val)
NM_017617.5(NOTCH1):c.4290C>T (p.Tyr1430=) rs78857347
NM_017617.5(NOTCH1):c.4296C>T (p.Phe1432=) rs774697636
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.4319T>C (p.Ile1440Thr) rs778742968
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.4336G>A (p.Glu1446Lys) rs1198437870
NM_017617.5(NOTCH1):c.4344G>A (p.Ala1448=) rs763497791
NM_017617.5(NOTCH1):c.4348G>A (p.Glu1450Lys)
NM_017617.5(NOTCH1):c.4371C>T (p.Asp1457=) rs368677987
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.4410C>T (p.His1470=) rs750183248
NM_017617.5(NOTCH1):c.4412C>T (p.Ala1471Val)
NM_017617.5(NOTCH1):c.4413G>A (p.Ala1471=) rs756867304
NM_017617.5(NOTCH1):c.4417G>A (p.Gly1473Ser)
NM_017617.5(NOTCH1):c.4426G>A (p.Gly1476Ser) rs776133530
NM_017617.5(NOTCH1):c.4428C>T (p.Gly1476=) rs765751888
NM_017617.5(NOTCH1):c.4451A>G (p.Asn1484Ser) rs759828439
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.4492A>G (p.Lys1498Glu)
NM_017617.5(NOTCH1):c.4506C>T (p.Asp1502=) rs751191827
NM_017617.5(NOTCH1):c.4507G>C (p.Gly1503Arg)
NM_017617.5(NOTCH1):c.4512del (p.Cys1505fs) rs41309766
NM_017617.5(NOTCH1):c.452A>G (p.Asn151Ser)
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.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.4560C>T (p.Asp1520=) rs1057523575
NM_017617.5(NOTCH1):c.456T>C (p.Gly152=) rs1044385750
NM_017617.5(NOTCH1):c.4571C>T (p.Ala1524Val) rs774374213
NM_017617.5(NOTCH1):c.4572G>A (p.Ala1524=) rs745794855
NM_017617.5(NOTCH1):c.4586+10C>T rs760225110
NM_017617.5(NOTCH1):c.4586+11G>C rs777578180
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.4652G>T (p.Ser1551Ile) rs774068657
NM_017617.5(NOTCH1):c.4653C>T (p.Ser1551=) rs368495371
NM_017617.5(NOTCH1):c.4654G>A (p.Ala1552Thr)
NM_017617.5(NOTCH1):c.4655C>T (p.Ala1552Val)
NM_017617.5(NOTCH1):c.4656G>A (p.Ala1552=) rs375091696
NM_017617.5(NOTCH1):c.4663G>A (p.Glu1555Lys)
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.4718C>T (p.Thr1573Met) rs573864607
NM_017617.5(NOTCH1):c.4719G>A (p.Thr1573=) rs775105774
NM_017617.5(NOTCH1):c.4739dup (p.Met1580fs) rs864622061
NM_017617.5(NOTCH1):c.4746G>A (p.Pro1582=) rs886038974
NM_017617.5(NOTCH1):c.4775T>G (p.Phe1592Cys) rs796065341
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.4794C>T (p.Arg1598=) rs558708604
NM_017617.5(NOTCH1):c.4795G>A (p.Val1599Met)
NM_017617.5(NOTCH1):c.4798C>T (p.Leu1600=) rs1554727850
NM_017617.5(NOTCH1):c.4809C>T (p.Asn1603=) rs370523171
NM_017617.5(NOTCH1):c.4823G>A (p.Arg1608His) rs76371972
NM_017617.5(NOTCH1):c.4827C>T (p.Asp1609=) rs113634293
NM_017617.5(NOTCH1):c.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.4879C>T (p.Arg1627Cys) rs1203442527
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.4898G>A (p.Arg1633His) rs375018022
NM_017617.5(NOTCH1):c.4905C>T (p.Ala1635=) rs751446074
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.4924G>C (p.Asp1642His) rs1057519863
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) rs1243453790
NM_017617.5(NOTCH1):c.4953G>T (p.Ser1651=) rs761306198
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) rs774808496
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.5011G>A (p.Val1671Ile) rs2229968
NM_017617.5(NOTCH1):c.5014C>T (p.Arg1672Cys) rs745901158
NM_017617.5(NOTCH1):c.5015G>A (p.Arg1672His) rs372830543
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.5018+13C>T rs752508890
NM_017617.5(NOTCH1):c.5018+14G>A rs936227030
NM_017617.5(NOTCH1):c.5019-13A>G rs148002954
NM_017617.5(NOTCH1):c.5019-13_5019-10del rs374419074
NM_017617.5(NOTCH1):c.5019-286G>A
NM_017617.5(NOTCH1):c.5019-51C>T
NM_017617.5(NOTCH1):c.5019-6G>A rs978561896
NM_017617.5(NOTCH1):c.501A>T (p.Pro167=) rs1554730657
NM_017617.5(NOTCH1):c.5023A>G (p.Ile1675Val) rs375408767
NM_017617.5(NOTCH1):c.5061G>T (p.Gln1687His) rs515726233
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.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.5115G>A (p.Ala1705=) rs201797774
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.5126T>C (p.Leu1709Pro) rs886043624
NM_017617.5(NOTCH1):c.5160C>T (p.Ala1720=) rs780625273
NM_017617.5(NOTCH1):c.5167+108C>T rs587777960
NM_017617.5(NOTCH1):c.5167+114C>T rs559253584
NM_017617.5(NOTCH1):c.5167+115G>A rs186415498
NM_017617.5(NOTCH1):c.5167+142A>C rs587777959
NM_017617.5(NOTCH1):c.5167+162G>A rs587777958
NM_017617.5(NOTCH1):c.5167+174G>A rs587777957
NM_017617.5(NOTCH1):c.5167+189C>A
NM_017617.5(NOTCH1):c.5167+189C>G rs113377894
NM_017617.5(NOTCH1):c.5167+189delCinsGG rs587777956
NM_017617.5(NOTCH1):c.5167+208C>T rs11574905
NM_017617.5(NOTCH1):c.5167+228T>G rs180916492
NM_017617.5(NOTCH1):c.5167+43_5167+44delinsT rs587777961
NM_017617.5(NOTCH1):c.5167+73G>A rs368493777
NM_017617.5(NOTCH1):c.5168-10G>A rs199903655
NM_017617.5(NOTCH1):c.5168-15C>T rs1422578873
NM_017617.5(NOTCH1):c.5168-4G>A rs751709616
NM_017617.5(NOTCH1):c.5168-5C>T rs757370134
NM_017617.5(NOTCH1):c.5168-7C>T
NM_017617.5(NOTCH1):c.516C>T (p.Gly172=)
NM_017617.5(NOTCH1):c.5175C>T (p.Thr1725=) rs61751536
NM_017617.5(NOTCH1):c.5184G>A (p.Pro1728=) rs760548371
NM_017617.5(NOTCH1):c.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.51C>T (p.Leu17=) rs1478932209
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.5218G>T (p.Ala1740Ser) rs864622062
NM_017617.5(NOTCH1):c.5219C>T (p.Ala1740Val) rs777962754
NM_017617.5(NOTCH1):c.5220G>A (p.Ala1740=) rs758562368
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.5260G>A (p.Val1754Met) rs1554727492
NM_017617.5(NOTCH1):c.5272C>G (p.Arg1758Gly) rs777859108
NM_017617.5(NOTCH1):c.5273G>A (p.Arg1758His)
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.5281del (p.Arg1761fs) rs515726231
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.5307C>T (p.Phe1769=) rs1400804279
NM_017617.5(NOTCH1):c.5344A>C (p.Lys1782Gln)
NM_017617.5(NOTCH1):c.5347C>T (p.Arg1783Trp) rs528703507
NM_017617.5(NOTCH1):c.534T>C (p.Asp178=) rs1554730656
NM_017617.5(NOTCH1):c.5361C>T (p.Leu1787=) rs760147171
NM_017617.5(NOTCH1):c.5365G>A (p.Glu1789Lys) rs1198855127
NM_017617.5(NOTCH1):c.5384+13C>T rs112582298
NM_017617.5(NOTCH1):c.5384+14G>A rs755122664
NM_017617.5(NOTCH1):c.5384+6C>T
NM_017617.5(NOTCH1):c.5385-18C>T rs370602147
NM_017617.5(NOTCH1):c.5385-70C>T
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.5407G>A (p.Gly1803Ser) rs369526652
NM_017617.5(NOTCH1):c.540C>T (p.Asn180=) rs760162406
NM_017617.5(NOTCH1):c.5414T>C (p.Leu1805Pro) rs201779159
NM_017617.5(NOTCH1):c.5416A>G (p.Met1806Val)
NM_017617.5(NOTCH1):c.5418G>A (p.Met1806Ile)
NM_017617.5(NOTCH1):c.5421C>T (p.Asp1807=) rs376590737
NM_017617.5(NOTCH1):c.5423A>G (p.Asp1808Gly)
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.5472+19G>C rs755674060
NM_017617.5(NOTCH1):c.5473-43T>C
NM_017617.5(NOTCH1):c.5492T>C (p.Leu1831Pro) rs1085307869
NM_017617.5(NOTCH1):c.5500C>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)
NM_017617.5(NOTCH1):c.5535_5536delinsAA (p.Gln1846Lys) rs878855027
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.5562C>T (p.Arg1854=) rs777125560
NM_017617.5(NOTCH1):c.5568T>C (p.Ser1856=) rs535478432
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.5605G>T (p.Ala1869Ser) rs200603539
NM_017617.5(NOTCH1):c.5638+19A>G rs368675083
NM_017617.5(NOTCH1):c.5639-12C>T rs11574908
NM_017617.5(NOTCH1):c.5639-174G>A
NM_017617.5(NOTCH1):c.5673C>T (p.Ser1891=) rs2229972
NM_017617.5(NOTCH1):c.5676G>A (p.Gly1892=) rs763584589
NM_017617.5(NOTCH1):c.5679C>T (p.Gly1893=) rs2229973
NM_017617.5(NOTCH1):c.5685G>A (p.Leu1895=) rs1060504521
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.5715C>T (p.Asp1905=) rs748200129
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.5721G>A (p.Pro1907=) rs1020718980
NM_017617.5(NOTCH1):c.5723C>T (p.Ala1908Val) rs886039188
NM_017617.5(NOTCH1):c.5724C>G (p.Ala1908=) rs555773558
NM_017617.5(NOTCH1):c.5733C>T (p.Ser1911=) rs61751534
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.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.578G>A (p.Gly193Asp) rs774966208
NM_017617.5(NOTCH1):c.5804C>T (p.Ala1935Val)
NM_017617.5(NOTCH1):c.5805C>T (p.Ala1935=) rs774693459
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.5865C>T (p.Asn1955=) rs1554826853
NM_017617.5(NOTCH1):c.5892G>A (p.Pro1964=) rs769135138
NM_017617.5(NOTCH1):c.5901G>A (p.Ala1967=)
NM_017617.5(NOTCH1):c.5913C>T (p.Ala1971=)
NM_017617.5(NOTCH1):c.5914G>A (p.Asp1972Asn) rs1414380652
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.5922A>G (p.Gln1974=) rs770803201
NM_017617.5(NOTCH1):c.5934+13T>C rs1326440924
NM_017617.5(NOTCH1):c.5934+45G>A
NM_017617.5(NOTCH1):c.5934+8G>A rs747822127
NM_017617.5(NOTCH1):c.5935-148G>A
NM_017617.5(NOTCH1):c.5935-209G>A
NM_017617.5(NOTCH1):c.5950C>T (p.Arg1984Ter) rs1554826746
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)
NM_017617.5(NOTCH1):c.5972G>A (p.Arg1991His) rs1371022203
NM_017617.5(NOTCH1):c.597C>T (p.Val199=) rs747342494
NM_017617.5(NOTCH1):c.5981A>G (p.Asp1994Gly) rs1454512890
NM_017617.5(NOTCH1):c.5987C>T (p.Thr1996Met)
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.6010C>T (p.Arg2004Cys)
NM_017617.5(NOTCH1):c.6018C>T (p.Ala2006=) rs748935957
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.6045del (p.Asn2016fs) rs1554826736
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>G (p.Ala2019=) rs758702512
NM_017617.5(NOTCH1):c.6057C>T (p.Ala2019=)
NM_017617.5(NOTCH1):c.6058G>A (p.Asp2020Asn) rs752928106
NM_017617.5(NOTCH1):c.6061G>A (p.Val2021Ile)
NM_017617.5(NOTCH1):c.6069C>T (p.Ala2023=) rs375920679
NM_017617.5(NOTCH1):c.6082+10C>T rs114120958
NM_017617.5(NOTCH1):c.6082+18C>T rs200956958
NM_017617.5(NOTCH1):c.6082+5G>A
NM_017617.5(NOTCH1):c.6083-15G>C rs935662425
NM_017617.5(NOTCH1):c.6083-4G>A rs570242146
NM_017617.5(NOTCH1):c.6083-5C>T rs199786076
NM_017617.5(NOTCH1):c.6084C>G (p.Gly2028=) rs1060504524
NM_017617.5(NOTCH1):c.608G>A (p.Arg203His) rs182763411
NM_017617.5(NOTCH1):c.6094C>T (p.Leu2032=) rs1060504525
NM_017617.5(NOTCH1):c.61+14C>T rs1425831389
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.6108C>T (p.Ala2036=) rs369167693
NM_017617.5(NOTCH1):c.6109G>T (p.Ala2037Ser) rs1060502237
NM_017617.5(NOTCH1):c.6111C>G (p.Ala2037=) rs749488166
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.6131C>T (p.Ala2044Val) rs1085307562
NM_017617.5(NOTCH1):c.6149A>G (p.Asn2050Ser) rs759344174
NM_017617.5(NOTCH1):c.6150C>T (p.Asn2050=) rs757372588
NM_017617.5(NOTCH1):c.6152G>C (p.Gly2051Ala)
NM_017617.5(NOTCH1):c.6153G>A (p.Gly2051=) rs1554826678
NM_017617.5(NOTCH1):c.6173_6175ACA[1] (p.Asn2059del) rs1057518096
NM_017617.5(NOTCH1):c.6177C>T (p.Asn2059=) rs992614355
NM_017617.5(NOTCH1):c.6180+126G>A
NM_017617.5(NOTCH1):c.6180+176T>C
NM_017617.5(NOTCH1):c.6180+189C>T
NM_017617.5(NOTCH1):c.6180+284G>A
NM_017617.5(NOTCH1):c.6180+8C>T rs769015966
NM_017617.5(NOTCH1):c.6180+9G>A rs200371378
NM_017617.5(NOTCH1):c.6180+9G>T rs200371378
NM_017617.5(NOTCH1):c.6181-15G>A rs375436198
NM_017617.5(NOTCH1):c.6181-7C>T rs1283606239
NM_017617.5(NOTCH1):c.62-8C>T rs202023246
NM_017617.5(NOTCH1):c.6200T>C (p.Leu2067Pro) rs786205600
NM_017617.5(NOTCH1):c.6204C>T (p.Ala2068=) rs767118276
NM_017617.5(NOTCH1):c.6205G>A (p.Ala2069Thr) rs567909904
NM_017617.5(NOTCH1):c.621C>T (p.Arg207=) rs756164624
NM_017617.5(NOTCH1):c.6222C>T (p.Tyr2074=) rs764551640
NM_017617.5(NOTCH1):c.6223G>A (p.Glu2075Lys)
NM_017617.5(NOTCH1):c.6227C>T (p.Thr2076Ile) rs1022510242
NM_017617.5(NOTCH1):c.6228C>T (p.Thr2076=) rs531156367
NM_017617.5(NOTCH1):c.6229G>A (p.Ala2077Thr)
NM_017617.5(NOTCH1):c.622G>A (p.Ala208Thr) rs745817995
NM_017617.5(NOTCH1):c.6253G>C (p.Ala2085Pro) rs786205599
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.6294C>T (p.Arg2098=) rs777111928
NM_017617.5(NOTCH1):c.62G>A (p.Gly21Asp) rs1554733407
NM_017617.5(NOTCH1):c.6300C>A (p.Ile2100=) rs773483690
NM_017617.5(NOTCH1):c.6310C>T (p.Arg2104Cys)
NM_017617.5(NOTCH1):c.6313A>G (p.Met2105Val)
NM_017617.5(NOTCH1):c.631A>G (p.Thr211Ala) rs376902925
NM_017617.5(NOTCH1):c.6321C>T (p.His2107=) rs532201830
NM_017617.5(NOTCH1):c.632C>G (p.Thr211Ser) rs1401319182
NM_017617.5(NOTCH1):c.6342C>G (p.Asp2114Glu)
NM_017617.5(NOTCH1):c.6343G>A (p.Glu2115Lys) rs777219891
NM_017617.5(NOTCH1):c.6348C>G (p.Tyr2116Ter) rs1057518661
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.6363C>T (p.Ser2121=) rs61751533
NM_017617.5(NOTCH1):c.6365C>T (p.Pro2122Leu) rs767587816
NM_017617.5(NOTCH1):c.6366G>A (p.Pro2122=) rs762003410
NM_017617.5(NOTCH1):c.6375C>T (p.His2125=) rs369009290
NM_017617.5(NOTCH1):c.6376G>A (p.Gly2126Arg) rs572960572
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>T (p.Pro2133Ser) rs61733294
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.6429C>T (p.Asn2143=) rs369845924
NM_017617.5(NOTCH1):c.6449A>G (p.Lys2150Arg)
NM_017617.5(NOTCH1):c.6454G>A (p.Gly2152Ser) rs116317506
NM_017617.5(NOTCH1):c.6454G>C (p.Gly2152Arg) rs116317506
NM_017617.5(NOTCH1):c.6457G>A (p.Val2153Met) rs375073677
NM_017617.5(NOTCH1):c.645C>T (p.Cys215=) rs974424401
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.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.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.6532G>A (p.Ala2178Thr)
NM_017617.5(NOTCH1):c.6536G>A (p.Arg2179Gln) rs587778571
NM_017617.5(NOTCH1):c.6546G>A (p.Lys2182=) rs1554826502
NM_017617.5(NOTCH1):c.6555C>T (p.Asp2185=) rs2229974
NM_017617.5(NOTCH1):c.6568C>T (p.Leu2190=) rs1037034230
NM_017617.5(NOTCH1):c.6570G>A (p.Leu2190=)
NM_017617.5(NOTCH1):c.6570G>C (p.Leu2190=) rs200630233
NM_017617.5(NOTCH1):c.6573G>A (p.Leu2191=) rs758591166
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.6583G>A (p.Gly2195Ser) rs376422513
NM_017617.5(NOTCH1):c.6591C>G (p.Leu2197=) rs767440286
NM_017617.5(NOTCH1):c.6593C>A (p.Ser2198Ter) rs761562076
NM_017617.5(NOTCH1):c.6593C>T (p.Ser2198Leu) rs761562076
NM_017617.5(NOTCH1):c.6594G>T (p.Ser2198=) rs774256366
NM_017617.5(NOTCH1):c.6597C>G (p.Pro2199=) rs374640663
NM_017617.5(NOTCH1):c.6597C>T (p.Pro2199=) rs374640663
NM_017617.5(NOTCH1):c.6607C>T (p.Leu2203=)
NM_017617.5(NOTCH1):c.6636C>T (p.Asp2212=) rs370606059
NM_017617.5(NOTCH1):c.663C>T (p.Pro221=) rs11574872
NM_017617.5(NOTCH1):c.6648G>A (p.Pro2216=) rs3812596
NM_017617.5(NOTCH1):c.6666G>A (p.Pro2222=) rs202229687
NM_017617.5(NOTCH1):c.6685G>A (p.Val2229Met) rs202096917
NM_017617.5(NOTCH1):c.6714C>T (p.Pro2238=) rs201499253
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.6739C>T (p.Leu2247=)
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.6745G>A (p.Val2249Met) rs369457922
NM_017617.5(NOTCH1):c.674C>G (p.Ser225Trp)
NM_017617.5(NOTCH1):c.6753C>T (p.Ala2251=) rs542875894
NM_017617.5(NOTCH1):c.6758C>T (p.Pro2253Leu) rs1204397173
NM_017617.5(NOTCH1):c.6760G>A (p.Glu2254Lys) rs1163673587
NM_017617.5(NOTCH1):c.6768G>A (p.Ala2256=) rs575575412
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.6783C>T (p.Gly2261=) rs749536941
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.6789G>C (p.Arg2263=)
NM_017617.5(NOTCH1):c.6814C>T (p.Arg2272Cys) rs752505638
NM_017617.5(NOTCH1):c.6815G>A (p.Arg2272His) rs972658026
NM_017617.5(NOTCH1):c.6822C>A (p.Ser2274=) rs754675254
NM_017617.5(NOTCH1):c.6826C>T (p.Leu2276=) rs1554826447
NM_017617.5(NOTCH1):c.6836C>T (p.Ala2279Val) rs200370953
NM_017617.5(NOTCH1):c.6851C>T (p.Thr2284Ile) rs1341934554
NM_017617.5(NOTCH1):c.6852C>T (p.Thr2284=) rs777957099
NM_017617.5(NOTCH1):c.6853G>A (p.Val2285Ile) rs61751489
NM_017617.5(NOTCH1):c.6867C>A (p.Ser2289Arg) rs1131691923
NM_017617.5(NOTCH1):c.6870C>T (p.Ser2290=) rs61751488
NM_017617.5(NOTCH1):c.687C>T (p.Asn229=) rs535217359
NM_017617.5(NOTCH1):c.6895G>A (p.Gly2299Ser) rs1020747496
NM_017617.5(NOTCH1):c.6897C>T (p.Gly2299=)
NM_017617.5(NOTCH1):c.6898G>A (p.Gly2300Arg) rs587778573
NM_017617.5(NOTCH1):c.68G>T (p.Arg23Leu) rs869025260
NM_017617.5(NOTCH1):c.6924C>T (p.Cys2308=) rs756653663
NM_017617.5(NOTCH1):c.6937C>T (p.Arg2313Trp)
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.6960G>A (p.Pro2320=) rs768457106
NM_017617.5(NOTCH1):c.6966A>G (p.Gln2322=)
NM_017617.5(NOTCH1):c.6975T>C (p.Pro2325=) rs200814776
NM_017617.5(NOTCH1):c.6976C>T (p.Leu2326=) rs756811995
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.6991G>A (p.Ala2331Thr) rs111309246
NM_017617.5(NOTCH1):c.6993A>G (p.Ala2331=) rs1554826428
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.7033G>A (p.Gly2345Ser) rs1325758824
NM_017617.5(NOTCH1):c.7047G>A (p.Pro2349=) rs775336930
NM_017617.5(NOTCH1):c.7075C>T (p.Leu2359=) rs374362224
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)
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.714C>T (p.Asp238=) rs532058137
NM_017617.5(NOTCH1):c.7150C>G (p.Gln2384Glu) rs375119074
NM_017617.5(NOTCH1):c.7161A>T (p.Pro2387=) rs1413339098
NM_017617.5(NOTCH1):c.7175T>C (p.Met2392Thr) rs1036612594
NM_017617.5(NOTCH1):c.7193A>G (p.Gln2398Arg) rs1564567879
NM_017617.5(NOTCH1):c.7200A>G (p.Ala2400=) rs780295772
NM_017617.5(NOTCH1):c.7203C>T (p.Asn2401=) rs756434740
NM_017617.5(NOTCH1):c.7209G>A (p.Gln2403=) rs61751486
NM_017617.5(NOTCH1):c.7209G>C (p.Gln2403His) rs61751486
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.7224G>A (p.Leu2408=) rs761927126
NM_017617.5(NOTCH1):c.7229C>T (p.Pro2410Leu) rs560981171
NM_017617.5(NOTCH1):c.7232_7234CAC[4] (p.Pro2415del) rs762336270
NM_017617.5(NOTCH1):c.7232_7234CAC[6] (p.Pro2415dup) rs762336270
NM_017617.5(NOTCH1):c.7232_7234CAC[7] (p.Pro2414_Pro2415dup)
NM_017617.5(NOTCH1):c.7233A>G (p.Pro2411=) rs11574911
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.7269A>C (p.Ser2423=) rs1057523931
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.7291C>T (p.Arg2431Trp) rs758410389
NM_017617.5(NOTCH1):c.7292G>A (p.Arg2431Gln)
NM_017617.5(NOTCH1):c.7298T>C (p.Phe2433Ser)
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.7338G>A (p.Leu2446=) rs35320927
NM_017617.5(NOTCH1):c.7356G>A (p.Ala2452=) rs781520893
NM_017617.5(NOTCH1):c.7357G>A (p.Val2453Met)
NM_017617.5(NOTCH1):c.7363A>G (p.Thr2455Ala) rs536167222
NM_017617.5(NOTCH1):c.7366A>G (p.Ile2456Val)
NM_017617.5(NOTCH1):c.7369C>G (p.Leu2457Val) rs61755043
NM_017617.5(NOTCH1):c.7386C>T (p.Pro2462=) rs369470875
NM_017617.5(NOTCH1):c.7387G>A (p.Ala2463Thr) rs537210445
NM_017617.5(NOTCH1):c.7390C>T (p.Leu2464=) rs372760677
NM_017617.5(NOTCH1):c.7397C>T (p.Thr2466Met) rs369167555
NM_017617.5(NOTCH1):c.7400C>T (p.Ser2467Leu) rs375025242
NM_017617.5(NOTCH1):c.7401G>T (p.Ser2467=) rs371306178
NM_017617.5(NOTCH1):c.7417G>A (p.Val2473Ile)
NM_017617.5(NOTCH1):c.7425C>T (p.Pro2475=) rs772308416
NM_017617.5(NOTCH1):c.743-1G>T rs587777735
NM_017617.5(NOTCH1):c.7432G>A (p.Ala2478Thr)
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.7482G>A (p.Val2494=) rs1268405497
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.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.7536G>A (p.Pro2512=) rs192299793
NM_017617.5(NOTCH1):c.7539C>T (p.Ser2513=) rs758931699
NM_017617.5(NOTCH1):c.7541C>T (p.Pro2514Leu) rs1564567473
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.7554C>G (p.Asp2518Glu) rs771410115
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.7575G>C (p.Pro2525=) rs375576856
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)
NM_017617.5(NOTCH1):c.7642G>A (p.Ala2548Thr) rs761156723
NM_017617.5(NOTCH1):c.7645C>T (p.Arg2549Cys) rs200893930
NM_017617.5(NOTCH1):c.7648A>G (p.Ile2550Val) rs188270459
NM_017617.5(NOTCH1):c.7653G>A (p.Pro2551=)
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.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.852G>A (p.Pro284=) rs2229975
NM_017617.5(NOTCH1):c.865+10C>T rs760702631
NM_017617.5(NOTCH1):c.865+16G>A rs199828787
NM_017617.5(NOTCH1):c.865+18C>T rs55677618
NM_017617.5(NOTCH1):c.865+240A>G
NM_017617.5(NOTCH1):c.865+251G>A
NM_017617.5(NOTCH1):c.865+4C>T rs527248111
NM_017617.5(NOTCH1):c.866-257G>A
NM_017617.5(NOTCH1):c.866-263G>A
NM_017617.5(NOTCH1):c.873C>T (p.Tyr291=) rs143654474
NM_017617.5(NOTCH1):c.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.949G>A (p.Gly317Ser) rs749696049
NM_017617.5(NOTCH1):c.956A>G (p.Tyr319Cys) rs1554730095
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
NOTCH1, PRO1797HIS
Single allele

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