ClinVar Miner

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

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2575
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_017617.5(NOTCH1):c.1669+9T>C rs3125006 0.88208
NM_017617.5(NOTCH1):c.3325+21A>G rs3124597 0.66794
NM_017617.5(NOTCH1):c.2970-31A>G rs3124598 0.66710
NM_017617.5(NOTCH1):c.1556-43T>C rs4880099 0.63476
NM_017617.5(NOTCH1):c.312T>C (p.Asn104=) rs4489420 0.62688
NM_017617.5(NOTCH1):c.5473-43T>C rs3124594 0.62391
NM_017617.5(NOTCH1):c.6555C>T (p.Asp2185=) rs2229974 0.58641
NM_017617.5(NOTCH1):c.1441+7C>T rs9411208 0.57467
NM_017617.5(NOTCH1):c.2588-4G>A rs3125001 0.48926
NM_017617.5(NOTCH1):c.1555+10A>G rs11145767 0.47945
NM_017617.5(NOTCH1):c.1670-9A>G rs3124603 0.47096
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.1442-43C>T rs9411254 0.40689
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.3171+42G>A rs11145765 0.08084
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 0.01991
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.4129C>T (p.Pro1377Ser) rs61751542 0.01511
NM_017617.5(NOTCH1):c.*6G>A rs73668310 0.01480
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.2664C>T (p.His888=) rs61751548 0.01162
NM_017617.5(NOTCH1):c.2691C>T (p.Ala897=) rs11574895 0.01135
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 0.00938
NM_017617.5(NOTCH1):c.5011G>A (p.Val1671Ile) rs2229968 0.00898
NM_017617.5(NOTCH1):c.1635C>T (p.Asp545=) rs11574889 0.00854
NM_017617.5(NOTCH1):c.2969+13C>T rs7864720 0.00778
NM_017617.5(NOTCH1):c.3780G>C (p.Val1260=) rs201354526 0.00754
NM_017617.5(NOTCH1):c.663C>T (p.Pro221=) rs11574872 0.00685
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.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 0.00557
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 0.00477
NM_017617.5(NOTCH1):c.3333C>T (p.Asp1111=) rs61751545 0.00435
NM_017617.5(NOTCH1):c.1042G>C (p.Ala348Pro) rs201236538 0.00418
NM_017617.5(NOTCH1):c.4823G>A (p.Arg1608His) rs76371972 0.00404
NM_017617.5(NOTCH1):c.62-8C>T rs202023246 0.00401
NM_017617.5(NOTCH1):c.6870C>T (p.Ser2290=) rs61751488 0.00398
NM_017617.5(NOTCH1):c.4536C>T (p.Ala1512=) rs61751540 0.00377
NM_017617.5(NOTCH1):c.2207+10G>A rs191892426 0.00343
NM_017617.5(NOTCH1):c.5073G>A (p.Gln1691=) rs61751538 0.00341
NM_017617.5(NOTCH1):c.5226C>T (p.Ala1742=) rs116316039 0.00334
NM_017617.5(NOTCH1):c.5018+20C>T rs139772121 0.00320
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.4827C>T (p.Asp1609=) rs113634293 0.00308
NM_017617.5(NOTCH1):c.5445C>T (p.Asp1815=) rs61751535 0.00307
NM_017617.5(NOTCH1):c.5384+13C>T rs112582298 0.00291
NM_017617.5(NOTCH1):c.5673C>T (p.Ser1891=) rs2229972 0.00289
NM_017617.5(NOTCH1):c.7338G>A (p.Leu2446=) rs35320927 0.00289
NM_017617.5(NOTCH1):c.3294C>T (p.Ser1098=) rs61751546 0.00283
NM_017617.5(NOTCH1):c.5175C>T (p.Thr1725=) rs61751536 0.00238
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp) rs201620358 0.00223
NM_017617.5(NOTCH1):c.4626C>T (p.Asp1542=) rs142375989 0.00207
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.4887C>T (p.His1629=) rs61751539 0.00182
NM_017617.5(NOTCH1):c.2124C>T (p.Tyr708=) rs376744729 0.00178
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.263G>A (p.Ser88Asn) rs191357265 0.00156
NM_017617.5(NOTCH1):c.1122C>T (p.Asp374=) rs192683347 0.00148
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.3511-10G>A rs139838537 0.00134
NM_017617.5(NOTCH1):c.865+18C>T rs55677618 0.00133
NM_017617.5(NOTCH1):c.2970-20G>A rs367927174 0.00116
NM_017617.5(NOTCH1):c.7648A>G (p.Ile2550Val) rs188270459 0.00115
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.2049G>A (p.Ala683=) rs61751553 0.00093
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.1440C>T (p.Pro480=) rs61751555 0.00080
NM_017617.5(NOTCH1):c.2080G>A (p.Glu694Lys) rs79782048 0.00079
NM_017617.5(NOTCH1):c.368C>T (p.Thr123Met) rs187473846 0.00074
NM_017617.5(NOTCH1):c.1962C>T (p.Thr654=) rs61751554 0.00073
NM_017617.5(NOTCH1):c.3401A>G (p.Gln1134Arg) rs374230681 0.00070
NM_017617.5(NOTCH1):c.5500C>T (p.Leu1834=) rs73668312 0.00070
NM_017617.5(NOTCH1):c.3384G>A (p.Thr1128=) rs200608278 0.00069
NM_017617.5(NOTCH1):c.1389C>T (p.Asn463=) rs61733293 0.00068
NM_017617.5(NOTCH1):c.1669+15C>T rs576849563 0.00068
NM_017617.5(NOTCH1):c.4898G>A (p.Arg1633His) rs375018022 0.00064
NM_017617.5(NOTCH1):c.7536G>A (p.Pro2512=) rs192299793 0.00064
NM_017617.5(NOTCH1):c.3115G>A (p.Gly1039Ser) rs200207651 0.00063
NM_017617.5(NOTCH1):c.6363C>T (p.Ser2121=) rs61751533 0.00062
NM_017617.5(NOTCH1):c.4168C>A (p.Pro1390Thr) rs191645600 0.00061
NM_017617.5(NOTCH1):c.6836C>T (p.Ala2279Val) rs200370953 0.00061
NM_017617.5(NOTCH1):c.140+17C>T rs377269443 0.00058
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 0.00058
NM_017617.5(NOTCH1):c.6291G>A (p.Pro2097=) rs201987555 0.00057
NM_017617.5(NOTCH1):c.1100-14C>T rs562148507 0.00056
NM_017617.5(NOTCH1):c.311A>G (p.Asn104Ser) rs199654211 0.00056
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.4653C>T (p.Ser1551=) rs368495371 0.00051
NM_017617.5(NOTCH1):c.5781G>A (p.Thr1927=) rs367587437 0.00051
NM_017617.5(NOTCH1):c.3970G>A (p.Val1324Met) rs149057410 0.00048
NM_017617.5(NOTCH1):c.2505C>A (p.Pro835=) rs111756273 0.00047
NM_017617.5(NOTCH1):c.6409C>T (p.Pro2137Ser) rs372698234 0.00046
NM_017617.5(NOTCH1):c.4930C>T (p.Leu1644=) rs568700183 0.00045
NM_017617.5(NOTCH1):c.5403A>G (p.Ser1801=) rs201358664 0.00045
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.4262A>G (p.Asn1421Ser) rs76473337 0.00044
NM_017617.5(NOTCH1):c.3901+3G>A rs373113999 0.00043
NM_017617.5(NOTCH1):c.7449G>A (p.Thr2483=) rs375728200 0.00043
NM_017617.5(NOTCH1):c.2325C>T (p.Tyr775=) rs749686245 0.00041
NM_017617.5(NOTCH1):c.701G>A (p.Arg234His) rs150737112 0.00041
NM_017617.5(NOTCH1):c.3644-4G>A rs376161552 0.00040
NM_017617.5(NOTCH1):c.3326-11A>C rs377648586 0.00039
NM_017617.5(NOTCH1):c.7369C>G (p.Leu2457Val) rs61755043 0.00039
NM_017617.5(NOTCH1):c.2646A>T (p.Ala882=) rs61751550 0.00038
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.6429C>T (p.Asn2143=) rs369845924 0.00035
NM_017617.5(NOTCH1):c.6636C>T (p.Asp2212=) rs370606059 0.00035
NM_017617.5(NOTCH1):c.1981G>A (p.Gly661Ser) rs201077220 0.00034
NM_017617.5(NOTCH1):c.2495C>T (p.Pro832Leu) rs559917218 0.00034
NM_017617.5(NOTCH1):c.1038C>T (p.His346=) rs376951155 0.00033
NM_017617.5(NOTCH1):c.3042G>A (p.Thr1014=) rs371532644 0.00032
NM_017617.5(NOTCH1):c.186G>C (p.Pro62=) rs374320445 0.00031
NM_017617.5(NOTCH1):c.2674C>T (p.Arg892Cys) rs578228721 0.00031
NM_017617.5(NOTCH1):c.7223T>C (p.Leu2408Pro) rs767728582 0.00031
NM_017617.5(NOTCH1):c.1100-8C>T rs545088400 0.00030
NM_017617.5(NOTCH1):c.2226C>T (p.Asp742=) rs201889382 0.00029
NM_017617.5(NOTCH1):c.2434G>A (p.Gly812Arg) rs201620755 0.00029
NM_017617.5(NOTCH1):c.4548C>T (p.Phe1516=) rs199740882 0.00029
NM_017617.5(NOTCH1):c.4921C>T (p.Pro1641Ser) rs535702482 0.00027
NM_017617.5(NOTCH1):c.4407C>T (p.Asn1469=) rs202231073 0.00026
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.3114C>T (p.Asp1038=) rs769755236 0.00024
NM_017617.5(NOTCH1):c.5189C>T (p.Pro1730Leu) rs375897519 0.00024
NM_017617.5(NOTCH1):c.879C>T (p.Thr293=) rs370170212 0.00024
NM_017617.5(NOTCH1):c.2349C>T (p.Phe783=) rs200092299 0.00023
NM_017617.5(NOTCH1):c.6898G>A (p.Gly2300Arg) rs587778573 0.00023
NM_017617.5(NOTCH1):c.6975T>C (p.Pro2325=) rs200814776 0.00023
NM_017617.5(NOTCH1):c.1956G>A (p.Ser652=) rs376101458 0.00022
NM_017617.5(NOTCH1):c.3198G>A (p.Ser1066=) rs199892488 0.00022
NM_017617.5(NOTCH1):c.2263_2265del (p.Asn755del) rs587778559 0.00021
NM_017617.5(NOTCH1):c.2970-9C>T rs568052902 0.00021
NM_017617.5(NOTCH1):c.5604C>T (p.Asp1868=) rs370916730 0.00021
NM_017617.5(NOTCH1):c.6685G>A (p.Val2229Met) rs202096917 0.00021
NM_017617.5(NOTCH1):c.7298T>C (p.Phe2433Ser) rs201493851 0.00021
NM_017617.5(NOTCH1):c.7387G>A (p.Ala2463Thr) rs537210445 0.00021
NM_017617.5(NOTCH1):c.1787C>T (p.Thr596Met) rs61755997 0.00020
NM_017617.5(NOTCH1):c.2433C>T (p.Ala811=) rs61751552 0.00020
NM_017617.5(NOTCH1):c.3325+11G>A rs373779257 0.00020
NM_017617.5(NOTCH1):c.3528C>T (p.His1176=) rs202133782 0.00020
NM_017617.5(NOTCH1):c.7090A>G (p.Ser2364Gly) rs201045092 0.00020
NM_017617.5(NOTCH1):c.2037C>T (p.Ile679=) rs367591933 0.00019
NM_017617.5(NOTCH1):c.2353+13C>T rs200756000 0.00019
NM_017617.5(NOTCH1):c.383G>A (p.Arg128His) rs754086897 0.00019
NM_017617.5(NOTCH1):c.5384+14G>A rs755122664 0.00019
NM_017617.5(NOTCH1):c.6733G>A (p.Gly2245Arg) rs201613894 0.00019
NM_017617.5(NOTCH1):c.2218G>A (p.Asp740Asn) rs200816814 0.00018
NM_017617.5(NOTCH1):c.3644-5C>T rs371070297 0.00018
NM_017617.5(NOTCH1):c.1556-9C>T rs150834418 0.00017
NM_017617.5(NOTCH1):c.1903+14C>T rs370541870 0.00017
NM_017617.5(NOTCH1):c.2427C>T (p.Asp809=) rs775162462 0.00017
NM_017617.5(NOTCH1):c.4095C>T (p.Ser1365=) rs202023240 0.00017
NM_017617.5(NOTCH1):c.454G>A (p.Gly152Ser) rs750242131 0.00017
NM_017617.5(NOTCH1):c.839A>G (p.Asn280Ser) rs367825691 0.00017
NM_017617.5(NOTCH1):c.1689C>T (p.Cys563=) rs760548976 0.00016
NM_017617.5(NOTCH1):c.2148G>A (p.Glu716=) rs376468003 0.00016
NM_017617.5(NOTCH1):c.2191C>T (p.Arg731Trp) rs199666126 0.00016
NM_017617.5(NOTCH1):c.2718C>T (p.Thr906=) rs200243788 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.3511-11C>T rs201280571 0.00016
NM_017617.5(NOTCH1):c.4866C>T (p.Arg1622=) rs772314400 0.00016
NM_017617.5(NOTCH1):c.5385-18C>T rs370602147 0.00016
NM_017617.5(NOTCH1):c.2353+14G>A rs140288481 0.00015
NM_017617.5(NOTCH1):c.4988G>A (p.Arg1663Gln) rs749490844 0.00015
NM_017617.5(NOTCH1):c.591C>T (p.Asn197=) rs370684825 0.00015
NM_017617.5(NOTCH1):c.156C>T (p.Phe52=) rs536299678 0.00014
NM_017617.5(NOTCH1):c.1670-19C>T rs377686947 0.00014
NM_017617.5(NOTCH1):c.1914C>T (p.Cys638=) rs373068883 0.00014
NM_017617.5(NOTCH1):c.2085C>T (p.Asp695=) rs200573958 0.00014
NM_017617.5(NOTCH1):c.2354-5T>C rs371944522 0.00014
NM_017617.5(NOTCH1):c.3597C>T (p.Leu1199=) rs150666307 0.00014
NM_017617.5(NOTCH1):c.3901+12G>A rs367600561 0.00014
NM_017617.5(NOTCH1):c.4905C>T (p.Ala1635=) rs751446074 0.00014
NM_017617.5(NOTCH1):c.5192C>T (p.Pro1731Leu) rs761345476 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.2206G>A (p.Gly736Arg) rs201662530 0.00013
NM_017617.5(NOTCH1):c.2326G>A (p.Val776Met) rs377286829 0.00013
NM_017617.5(NOTCH1):c.851C>T (p.Pro284Leu) rs376104770 0.00013
NM_017617.5(NOTCH1):c.1099+20G>A rs376139196 0.00012
NM_017617.5(NOTCH1):c.1146C>T (p.Asn382=) rs368665838 0.00012
NM_017617.5(NOTCH1):c.165G>A (p.Pro55=) rs373793124 0.00012
NM_017617.5(NOTCH1):c.2805C>T (p.Pro935=) rs200332386 0.00012
NM_017617.5(NOTCH1):c.2982C>T (p.Asn994=) rs374100421 0.00012
NM_017617.5(NOTCH1):c.4179C>T (p.Gly1393=) rs200664704 0.00012
NM_017617.5(NOTCH1):c.5015G>A (p.Arg1672His) rs372830543 0.00012
NM_017617.5(NOTCH1):c.5472+9C>T rs200788026 0.00012
NM_017617.5(NOTCH1):c.5676G>A (p.Gly1892=) rs763584589 0.00012
NM_017617.5(NOTCH1):c.6568C>T (p.Leu2190=) rs1037034230 0.00012
NM_017617.5(NOTCH1):c.1116C>G (p.Leu372=) rs372623058 0.00011
NM_017617.5(NOTCH1):c.1837C>T (p.Arg613Cys) rs763988265 0.00011
NM_017617.5(NOTCH1):c.2359A>G (p.Asn787Asp) rs199672693 0.00011
NM_017617.5(NOTCH1):c.2863C>T (p.Arg955Cys) rs370797169 0.00011
NM_017617.5(NOTCH1):c.4015-10T>C rs989085577 0.00011
NM_017617.5(NOTCH1):c.4828G>T (p.Ala1610Ser) rs369467132 0.00011
NM_017617.5(NOTCH1):c.5273G>A (p.Arg1758His) rs373841359 0.00011
NM_017617.5(NOTCH1):c.5301C>T (p.Leu1767=) rs372154581 0.00011
NM_017617.5(NOTCH1):c.6938G>A (p.Arg2313Gln) rs371069660 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.153C>T (p.Ala51=) rs748048002 0.00010
NM_017617.5(NOTCH1):c.1555+16G>A rs368798926 0.00010
NM_017617.5(NOTCH1):c.1670-18G>A rs375041394 0.00010
NM_017617.5(NOTCH1):c.1698C>T (p.Asp566=) rs541992446 0.00010
NM_017617.5(NOTCH1):c.2636G>A (p.Arg879Gln) rs368011392 0.00010
NM_017617.5(NOTCH1):c.2740+14C>T rs375880798 0.00010
NM_017617.5(NOTCH1):c.2969+14G>A rs112192550 0.00010
NM_017617.5(NOTCH1):c.3771G>A (p.Pro1257=) rs536479643 0.00010
NM_017617.5(NOTCH1):c.390G>A (p.Pro130=) rs61751559 0.00010
NM_017617.5(NOTCH1):c.4096G>A (p.Gly1366Ser) rs778270588 0.00010
NM_017617.5(NOTCH1):c.4372G>A (p.Ala1458Thr) rs200495793 0.00010
NM_017617.5(NOTCH1):c.4458C>G (p.Pro1486=) rs747236263 0.00010
NM_017617.5(NOTCH1):c.4537G>A (p.Gly1513Ser) rs765844768 0.00010
NM_017617.5(NOTCH1):c.5414T>C (p.Leu1805Pro) rs201779159 0.00010
NM_017617.5(NOTCH1):c.5631C>T (p.Arg1877=) rs35627681 0.00010
NM_017617.5(NOTCH1):c.6744C>T (p.Asn2248=) rs372771288 0.00010
NM_017617.5(NOTCH1):c.6788G>A (p.Arg2263Gln) rs200521815 0.00010
NM_017617.5(NOTCH1):c.695C>A (p.Thr232Asn) rs869025493 0.00010
NM_017617.5(NOTCH1):c.1904-13G>A rs371069516 0.00009
NM_017617.5(NOTCH1):c.2352C>T (p.Ser784=) rs774701000 0.00009
NM_017617.5(NOTCH1):c.3334G>A (p.Val1112Ile) rs370696201 0.00009
NM_017617.5(NOTCH1):c.3966C>T (p.Cys1322=) rs753290862 0.00009
NM_017617.5(NOTCH1):c.403+17A>T rs544324440 0.00009
NM_017617.5(NOTCH1):c.4157C>T (p.Pro1386Leu) rs367710569 0.00009
NM_017617.5(NOTCH1):c.4290C>T (p.Tyr1430=) rs78857347 0.00009
NM_017617.5(NOTCH1):c.4296C>T (p.Phe1432=) rs774697636 0.00009
NM_017617.5(NOTCH1):c.4314C>T (p.Arg1438=) rs757256477 0.00009
NM_017617.5(NOTCH1):c.4586+10C>T rs760225110 0.00009
NM_017617.5(NOTCH1):c.4652G>T (p.Ser1551Ile) rs774068657 0.00009
NM_017617.5(NOTCH1):c.4860C>T (p.Tyr1620=) rs375196212 0.00009
NM_017617.5(NOTCH1):c.5018+14G>A rs936227030 0.00009
NM_017617.5(NOTCH1):c.5019-6G>A rs978561896 0.00009
NM_017617.5(NOTCH1):c.527G>A (p.Arg176Gln) rs375065108 0.00009
NM_017617.5(NOTCH1):c.7645C>T (p.Arg2549Cys) rs200893930 0.00009
NM_017617.5(NOTCH1):c.999C>T (p.Ser333=) rs751646144 0.00009
NM_017617.5(NOTCH1):c.147C>T (p.Gly49=) rs746002433 0.00008
NM_017617.5(NOTCH1):c.1870G>A (p.Ala624Thr) rs372771179 0.00008
NM_017617.5(NOTCH1):c.2295C>T (p.Gly765=) rs144066379 0.00008
NM_017617.5(NOTCH1):c.2724C>T (p.Ile908=) rs61751547 0.00008
NM_017617.5(NOTCH1):c.3519C>T (p.Ala1173=) rs765576108 0.00008
NM_017617.5(NOTCH1):c.3768G>A (p.Pro1256=) rs779987984 0.00008
NM_017617.5(NOTCH1):c.4313G>A (p.Arg1438His) rs61751541 0.00008
NM_017617.5(NOTCH1):c.4373C>T (p.Ala1458Val) rs374352922 0.00008
NM_017617.5(NOTCH1):c.5018+13C>T rs752508890 0.00008
NM_017617.5(NOTCH1):c.516C>T (p.Gly172=) rs377685034 0.00008
NM_017617.5(NOTCH1):c.5193G>A (p.Pro1731=) rs773981674 0.00008
NM_017617.5(NOTCH1):c.5224G>T (p.Ala1742Ser) rs760669267 0.00008
NM_017617.5(NOTCH1):c.6714C>T (p.Pro2238=) rs201499253 0.00008
NM_017617.5(NOTCH1):c.7313C>T (p.Pro2438Leu) rs199777870 0.00008
NM_017617.5(NOTCH1):c.1682C>T (p.Thr561Met) rs560030759 0.00007
NM_017617.5(NOTCH1):c.2014+16C>T rs199814619 0.00007
NM_017617.5(NOTCH1):c.2192G>A (p.Arg731Gln) rs587778558 0.00007
NM_017617.5(NOTCH1):c.2207+15C>T rs187086513 0.00007
NM_017617.5(NOTCH1):c.2784G>A (p.Thr928=) rs200082362 0.00007
NM_017617.5(NOTCH1):c.3468C>T (p.Asn1156=) rs199793164 0.00007
NM_017617.5(NOTCH1):c.3853G>A (p.Val1285Met) rs756972680 0.00007
NM_017617.5(NOTCH1):c.3901+19C>T rs373752718 0.00007
NM_017617.5(NOTCH1):c.4101G>A (p.Pro1367=) rs374921637 0.00007
NM_017617.5(NOTCH1):c.4307C>T (p.Ala1436Val) rs371303106 0.00007
NM_017617.5(NOTCH1):c.4506C>T (p.Asp1502=) rs751191827 0.00007
NM_017617.5(NOTCH1):c.4551C>T (p.Asp1517=) rs766737406 0.00007
NM_017617.5(NOTCH1):c.4795G>A (p.Val1599Met) rs543770603 0.00007
NM_017617.5(NOTCH1):c.4809C>T (p.Asn1603=) rs370523171 0.00007
NM_017617.5(NOTCH1):c.4927G>A (p.Ala1643Thr) rs566680728 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.6583G>A (p.Gly2195Ser) rs376422513 0.00007
NM_017617.5(NOTCH1):c.7397C>T (p.Thr2466Met) rs369167555 0.00007
NM_017617.5(NOTCH1):c.1026C>T (p.Ala342=) rs755895298 0.00006
NM_017617.5(NOTCH1):c.1510C>T (p.Arg504Cys) rs752071569 0.00006
NM_017617.5(NOTCH1):c.1555+15C>T rs577175237 0.00006
NM_017617.5(NOTCH1):c.1590C>T (p.Asp530=) rs562807473 0.00006
NM_017617.5(NOTCH1):c.1945C>A (p.Pro649Thr) rs780710009 0.00006
NM_017617.5(NOTCH1):c.2207+14C>T rs369626003 0.00006
NM_017617.5(NOTCH1):c.2292C>T (p.Asn764=) rs775201110 0.00006
NM_017617.5(NOTCH1):c.2588-16T>G rs781139940 0.00006
NM_017617.5(NOTCH1):c.2620G>A (p.Val874Ile) rs776698364 0.00006
NM_017617.5(NOTCH1):c.2640C>T (p.His880=) rs374946182 0.00006
NM_017617.5(NOTCH1):c.2741-12G>A rs370769571 0.00006
NM_017617.5(NOTCH1):c.274G>C (p.Gly92Arg) rs1397413424 0.00006
NM_017617.5(NOTCH1):c.2889C>T (p.Cys963=) rs749585921 0.00006
NM_017617.5(NOTCH1):c.3001G>A (p.Gly1001Ser) rs763621169 0.00006
NM_017617.5(NOTCH1):c.3171+9G>A rs377541723 0.00006
NM_017617.5(NOTCH1):c.3270C>T (p.Thr1090=) rs773990513 0.00006
NM_017617.5(NOTCH1):c.3271G>A (p.Gly1091Ser) rs768095251 0.00006
NM_017617.5(NOTCH1):c.3338C>T (p.Ala1113Val) rs377351349 0.00006
NM_017617.5(NOTCH1):c.339C>T (p.Asn113=) rs369947231 0.00006
NM_017617.5(NOTCH1):c.3788G>A (p.Arg1263His) rs377594681 0.00006
NM_017617.5(NOTCH1):c.3807C>T (p.Asn1269=) rs1008389563 0.00006
NM_017617.5(NOTCH1):c.404-13C>G rs766360723 0.00006
NM_017617.5(NOTCH1):c.4328C>T (p.Pro1443Leu) rs750010764 0.00006
NM_017617.5(NOTCH1):c.4371C>T (p.Asp1457=) rs368677987 0.00006
NM_017617.5(NOTCH1):c.448G>A (p.Ala150Thr) rs372660483 0.00006
NM_017617.5(NOTCH1):c.4718C>T (p.Thr1573Met) rs573864607 0.00006
NM_017617.5(NOTCH1):c.4756C>T (p.Arg1586Cys) rs1418474023 0.00006
NM_017617.5(NOTCH1):c.4833C>T (p.His1611=) rs1308437413 0.00006
NM_017617.5(NOTCH1):c.5118C>T (p.Leu1706=) rs747037396 0.00006
NM_017617.5(NOTCH1):c.558C>T (p.Pro186=) rs756111268 0.00006
NM_017617.5(NOTCH1):c.5718G>A (p.Ala1906=) rs369730620 0.00006
NM_017617.5(NOTCH1):c.5776C>T (p.Arg1926Cys) rs199652954 0.00006
NM_017617.5(NOTCH1):c.5853C>T (p.Ser1951=) rs373902356 0.00006
NM_017617.5(NOTCH1):c.6457G>A (p.Val2153Met) rs375073677 0.00006
NM_017617.5(NOTCH1):c.6783C>T (p.Gly2261=) rs749536941 0.00006
NM_017617.5(NOTCH1):c.6852C>T (p.Thr2284=) rs777957099 0.00006
NM_017617.5(NOTCH1):c.6960G>A (p.Pro2320=) rs768457106 0.00006
NM_017617.5(NOTCH1):c.6981G>T (p.Arg2327=) rs376490131 0.00006
NM_017617.5(NOTCH1):c.702C>T (p.Arg234=) rs1392150131 0.00006
NM_017617.5(NOTCH1):c.7130C>T (p.Pro2377Leu) rs761839390 0.00006
NM_017617.5(NOTCH1):c.7251G>A (p.Pro2417=) rs368498380 0.00006
NM_017617.5(NOTCH1):c.7292G>A (p.Arg2431Gln) rs753752321 0.00006
NM_017617.5(NOTCH1):c.7363A>G (p.Thr2455Ala) rs536167222 0.00006
NM_017617.5(NOTCH1):c.7413G>A (p.Ser2471=) rs367706382 0.00006
NM_017617.5(NOTCH1):c.7425C>T (p.Pro2475=) rs772308416 0.00006
NM_017617.5(NOTCH1):c.7617T>G (p.Pro2539=) rs375444185 0.00006
NM_017617.5(NOTCH1):c.975C>T (p.Asn325=) rs746111102 0.00006
NM_017617.5(NOTCH1):c.1125A>G (p.Ala375=) rs371954544 0.00005
NM_017617.5(NOTCH1):c.1664C>T (p.Thr555Met) rs746796894 0.00005
NM_017617.5(NOTCH1):c.1670-8C>T rs527374781 0.00005
NM_017617.5(NOTCH1):c.1774C>T (p.Arg592Cys) rs1472690723 0.00005
NM_017617.5(NOTCH1):c.219A>G (p.Thr73=) rs759781673 0.00005
NM_017617.5(NOTCH1):c.2355T>C (p.Gly785=) rs199719103 0.00005
NM_017617.5(NOTCH1):c.2388G>A (p.Ala796=) rs561956078 0.00005
NM_017617.5(NOTCH1):c.2521G>A (p.Gly841Ser) rs369259434 0.00005
NM_017617.5(NOTCH1):c.2744C>T (p.Pro915Leu) rs755058802 0.00005
NM_017617.5(NOTCH1):c.2783C>T (p.Thr928Met) rs764921648 0.00005
NM_017617.5(NOTCH1):c.2908A>G (p.Thr970Ala) rs201053795 0.00005
NM_017617.5(NOTCH1):c.3326-16A>T rs374731388 0.00005
NM_017617.5(NOTCH1):c.3326-4G>A rs773638417 0.00005
NM_017617.5(NOTCH1):c.3553G>A (p.Asp1185Asn) rs548083258 0.00005
NM_017617.5(NOTCH1):c.382C>T (p.Arg128Cys) rs371868900 0.00005
NM_017617.5(NOTCH1):c.4027G>A (p.Ala1343Thr) rs369654090 0.00005
NM_017617.5(NOTCH1):c.4046C>T (p.Ala1349Val) rs752951296 0.00005
NM_017617.5(NOTCH1):c.4137G>A (p.Thr1379=) rs762733162 0.00005
NM_017617.5(NOTCH1):c.4238G>A (p.Arg1413His) rs371068504 0.00005
NM_017617.5(NOTCH1):c.4492A>G (p.Lys1498Glu) rs745681787 0.00005
NM_017617.5(NOTCH1):c.4793G>A (p.Arg1598His) rs755124691 0.00005
NM_017617.5(NOTCH1):c.4981C>T (p.Arg1661Trp) rs998433493 0.00005
NM_017617.5(NOTCH1):c.5091C>T (p.Thr1697=) rs775882968 0.00005
NM_017617.5(NOTCH1):c.5100C>T (p.Ala1700=) rs376495459 0.00005
NM_017617.5(NOTCH1):c.5183C>T (p.Pro1728Leu) rs766358616 0.00005
NM_017617.5(NOTCH1):c.5223G>A (p.Ala1741=) rs766444406 0.00005
NM_017617.5(NOTCH1):c.5248G>A (p.Val1750Met) rs368396893 0.00005
NM_017617.5(NOTCH1):c.5373C>T (p.Ser1791=) rs777013344 0.00005
NM_017617.5(NOTCH1):c.5765A>G (p.Asn1922Ser) rs765708087 0.00005
NM_017617.5(NOTCH1):c.6181-15G>A rs375436198 0.00005
NM_017617.5(NOTCH1):c.6205G>A (p.Ala2069Thr) rs567909904 0.00005
NM_017617.5(NOTCH1):c.6941T>C (p.Leu2314Pro) rs200929799 0.00005
NM_017617.5(NOTCH1):c.7016C>A (p.Ala2339Asp) rs773134608 0.00005
NM_017617.5(NOTCH1):c.7229C>T (p.Pro2410Leu) rs560981171 0.00005
NM_017617.5(NOTCH1):c.7356G>A (p.Ala2452=) rs781520893 0.00005
NM_017617.5(NOTCH1):c.7366A>G (p.Ile2456Val) rs777934565 0.00005
NM_017617.5(NOTCH1):c.7398G>A (p.Thr2466=) rs775056799 0.00005
NM_017617.5(NOTCH1):c.963C>T (p.Cys321=) rs201158068 0.00005
NM_017617.5(NOTCH1):c.1023C>T (p.Ser341=) rs200324222 0.00004
NM_017617.5(NOTCH1):c.1120G>A (p.Asp374Asn) rs770729642 0.00004
NM_017617.5(NOTCH1):c.1206G>A (p.Ser402=) rs746848165 0.00004
NM_017617.5(NOTCH1):c.1272G>A (p.Glu424=) rs377342874 0.00004
NM_017617.5(NOTCH1):c.1376A>G (p.Asn459Ser) rs574143345 0.00004
NM_017617.5(NOTCH1):c.1441+13G>C rs765812485 0.00004
NM_017617.5(NOTCH1):c.1670-10C>T rs751747178 0.00004
NM_017617.5(NOTCH1):c.1864G>A (p.Asp622Asn) rs367873715 0.00004
NM_017617.5(NOTCH1):c.1869C>T (p.Asn623=) rs376726823 0.00004
NM_017617.5(NOTCH1):c.1903+10C>G rs375704312 0.00004
NM_017617.5(NOTCH1):c.1904-10A>G rs200896186 0.00004
NM_017617.5(NOTCH1):c.1904-3C>A rs748118679 0.00004
NM_017617.5(NOTCH1):c.2002C>G (p.Pro668Ala) rs780810308 0.00004
NM_017617.5(NOTCH1):c.2015-13G>A rs772867940 0.00004
NM_017617.5(NOTCH1):c.2108G>A (p.Arg703His) rs561126575 0.00004
NM_017617.5(NOTCH1):c.2126A>G (p.His709Arg) rs373233257 0.00004
NM_017617.5(NOTCH1):c.2207+6C>T rs545872006 0.00004
NM_017617.5(NOTCH1):c.2353G>A (p.Gly785Ser) rs764191723 0.00004
NM_017617.5(NOTCH1):c.2503C>T (p.Pro835Ser) rs377353441 0.00004
NM_017617.5(NOTCH1):c.2511C>T (p.Pro837=) rs201521828 0.00004
NM_017617.5(NOTCH1):c.2541C>T (p.Ser847=) rs763472606 0.00004
NM_017617.5(NOTCH1):c.2576C>T (p.Thr859Met) rs199505287 0.00004
NM_017617.5(NOTCH1):c.2613C>T (p.Asn871=) rs767614547 0.00004
NM_017617.5(NOTCH1):c.2727C>T (p.Asp909=) rs752854629 0.00004
NM_017617.5(NOTCH1):c.2728G>A (p.Asp910Asn) rs765293859 0.00004
NM_017617.5(NOTCH1):c.2772C>T (p.Asp924=) rs762732089 0.00004
NM_017617.5(NOTCH1):c.2868C>T (p.Asn956=) rs760227470 0.00004
NM_017617.5(NOTCH1):c.3017C>T (p.Thr1006Ile) rs367860186 0.00004
NM_017617.5(NOTCH1):c.3121G>A (p.Gly1041Ser) rs375260339 0.00004
NM_017617.5(NOTCH1):c.3210C>T (p.Asn1070=) rs768144709 0.00004
NM_017617.5(NOTCH1):c.3282C>T (p.Cys1094=) rs748813647 0.00004
NM_017617.5(NOTCH1):c.3320G>A (p.Arg1107Gln) rs756087913 0.00004
NM_017617.5(NOTCH1):c.3373G>A (p.Ala1125Thr) rs767963898 0.00004
NM_017617.5(NOTCH1):c.3374C>T (p.Ala1125Val) rs200871631 0.00004
NM_017617.5(NOTCH1):c.3483G>A (p.Thr1161=) rs369392246 0.00004
NM_017617.5(NOTCH1):c.3513C>T (p.Cys1171=) rs758860870 0.00004
NM_017617.5(NOTCH1):c.3700C>T (p.Arg1234Trp) rs761304479 0.00004
NM_017617.5(NOTCH1):c.3732C>T (p.Cys1244=) rs746262173 0.00004
NM_017617.5(NOTCH1):c.3887G>A (p.Arg1296His) rs368400902 0.00004
NM_017617.5(NOTCH1):c.3901+9C>T rs370537711 0.00004
NM_017617.5(NOTCH1):c.3905G>A (p.Arg1302His) rs762091081 0.00004
NM_017617.5(NOTCH1):c.3918C>T (p.Ser1306=) rs770781173 0.00004
NM_017617.5(NOTCH1):c.3980A>G (p.Asn1327Ser) rs751874720 0.00004
NM_017617.5(NOTCH1):c.3989G>A (p.Arg1330His) rs1180096756 0.00004
NM_017617.5(NOTCH1):c.4143C>T (p.Pro1381=) rs539950718 0.00004
NM_017617.5(NOTCH1):c.4185C>T (p.Asn1395=) rs749570626 0.00004
NM_017617.5(NOTCH1):c.4222G>A (p.Glu1408Lys) rs587778569 0.00004
NM_017617.5(NOTCH1):c.4344G>A (p.Ala1448=) rs763497791 0.00004
NM_017617.5(NOTCH1):c.4426G>A (p.Gly1476Ser) rs776133530 0.00004
NM_017617.5(NOTCH1):c.4467C>T (p.Asn1489=) rs773323801 0.00004
NM_017617.5(NOTCH1):c.4572G>A (p.Ala1524=) rs745794855 0.00004
NM_017617.5(NOTCH1):c.4587-6C>T rs368601709 0.00004
NM_017617.5(NOTCH1):c.4635C>T (p.Cys1545=) rs775752102 0.00004
NM_017617.5(NOTCH1):c.4656G>A (p.Ala1552=) rs375091696 0.00004
NM_017617.5(NOTCH1):c.4800G>A (p.Leu1600=) rs761609069 0.00004
NM_017617.5(NOTCH1):c.5017G>A (p.Gly1673Ser) rs1226514285 0.00004
NM_017617.5(NOTCH1):c.5070G>A (p.Ser1690=) rs370200858 0.00004
NM_017617.5(NOTCH1):c.5168-4G>A rs751709616 0.00004
NM_017617.5(NOTCH1):c.5219C>T (p.Ala1740Val) rs777962754 0.00004
NM_017617.5(NOTCH1):c.5384+10C>T rs748380110 0.00004
NM_017617.5(NOTCH1):c.5416A>G (p.Met1806Val) rs114479009 0.00004
NM_017617.5(NOTCH1):c.5421C>T (p.Asp1807=) rs376590737 0.00004
NM_017617.5(NOTCH1):c.5473-6A>G rs367958280 0.00004
NM_017617.5(NOTCH1):c.5485G>A (p.Val1829Met) rs765486614 0.00004
NM_017617.5(NOTCH1):c.5542C>A (p.Leu1848Met) rs35652719 0.00004
NM_017617.5(NOTCH1):c.5550C>T (p.Ala1850=) rs374451515 0.00004
NM_017617.5(NOTCH1):c.5638+7G>C rs747630187 0.00004
NM_017617.5(NOTCH1):c.5715C>T (p.Asp1905=) rs748200129 0.00004
NM_017617.5(NOTCH1):c.5724C>T (p.Ala1908=) rs555773558 0.00004
NM_017617.5(NOTCH1):c.573C>T (p.His191=) rs763733336 0.00004
NM_017617.5(NOTCH1):c.597C>T (p.Val199=) rs747342494 0.00004
NM_017617.5(NOTCH1):c.6222C>T (p.Tyr2074=) rs764551640 0.00004
NM_017617.5(NOTCH1):c.6284G>A (p.Arg2095His) rs756874994 0.00004
NM_017617.5(NOTCH1):c.6383C>T (p.Pro2128Leu) rs770713134 0.00004
NM_017617.5(NOTCH1):c.6384G>A (p.Pro2128=) rs746762310 0.00004
NM_017617.5(NOTCH1):c.6521A>G (p.Lys2174Arg) rs761602495 0.00004
NM_017617.5(NOTCH1):c.6540G>A (p.Arg2180=) rs549193636 0.00004
NM_017617.5(NOTCH1):c.6573G>A (p.Leu2191=) rs758591166 0.00004
NM_017617.5(NOTCH1):c.6577A>G (p.Ser2193Gly) rs1060502236 0.00004
NM_017617.5(NOTCH1):c.6727G>A (p.Gly2243Ser) rs61751491 0.00004
NM_017617.5(NOTCH1):c.6750G>A (p.Ala2250=) rs758285863 0.00004
NM_017617.5(NOTCH1):c.6822C>A (p.Ser2274=) rs754675254 0.00004
NM_017617.5(NOTCH1):c.7203C>T (p.Asn2401=) rs756434740 0.00004
NM_017617.5(NOTCH1):c.7385C>T (p.Pro2462Leu) rs767435492 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.7498C>G (p.His2500Asp) rs763902589 0.00004
NM_017617.5(NOTCH1):c.7569G>A (p.Ser2523=) rs534623042 0.00004
NM_017617.5(NOTCH1):c.7585G>A (p.Val2529Ile) rs1052013977 0.00004
NM_017617.5(NOTCH1):c.7641C>T (p.Ile2547=) rs370124241 0.00004
NM_017617.5(NOTCH1):c.7653G>A (p.Pro2551=) rs759443061 0.00004
NM_017617.5(NOTCH1):c.773T>C (p.Ile258Thr) rs1217015143 0.00004
NM_017617.5(NOTCH1):c.825C>T (p.Gly275=) rs61751556 0.00004
NM_017617.5(NOTCH1):c.865+10C>T rs760702631 0.00004
NM_017617.5(NOTCH1):c.865+16G>A rs199828787 0.00004
NM_017617.5(NOTCH1):c.924C>T (p.Asn308=) rs765208754 0.00004
NM_017617.5(NOTCH1):c.114A>G (p.Glu38=) rs375506915 0.00003
NM_017617.5(NOTCH1):c.1262A>G (p.Asn421Ser) rs928512979 0.00003
NM_017617.5(NOTCH1):c.1441+4C>T rs764082065 0.00003
NM_017617.5(NOTCH1):c.1446C>T (p.Tyr482=) rs757373430 0.00003
NM_017617.5(NOTCH1):c.1543G>C (p.Glu515Gln) rs749085650 0.00003
NM_017617.5(NOTCH1):c.1554G>A (p.Thr518=) rs190721271 0.00003
NM_017617.5(NOTCH1):c.1747G>A (p.Gly583Ser) rs757066417 0.00003
NM_017617.5(NOTCH1):c.1801G>A (p.Glu601Lys) rs749381544 0.00003
NM_017617.5(NOTCH1):c.1845G>A (p.Gly615=) rs1442503672 0.00003
NM_017617.5(NOTCH1):c.1863C>T (p.Arg621=) rs749374016 0.00003
NM_017617.5(NOTCH1):c.1868A>G (p.Asn623Ser) rs769696527 0.00003
NM_017617.5(NOTCH1):c.1889T>C (p.Leu630Pro) rs752513330 0.00003
NM_017617.5(NOTCH1):c.1988A>T (p.Glu663Val) rs1468283318 0.00003
NM_017617.5(NOTCH1):c.2003C>T (p.Pro668Leu) rs576030298 0.00003
NM_017617.5(NOTCH1):c.2107C>T (p.Arg703Cys) rs746213819 0.00003
NM_017617.5(NOTCH1):c.210C>T (p.Asn70=) rs763414200 0.00003
NM_017617.5(NOTCH1):c.225C>T (p.His75=) rs776616401 0.00003
NM_017617.5(NOTCH1):c.2354-14C>A rs376797282 0.00003
NM_017617.5(NOTCH1):c.2379C>T (p.Asn793=) rs200565505 0.00003
NM_017617.5(NOTCH1):c.2442G>A (p.Lys814=) rs544653892 0.00003
NM_017617.5(NOTCH1):c.2458C>T (p.Pro820Ser) rs1379596542 0.00003
NM_017617.5(NOTCH1):c.246G>C (p.Val82=) rs1055942607 0.00003
NM_017617.5(NOTCH1):c.2520C>T (p.Asn840=) rs546222078 0.00003
NM_017617.5(NOTCH1):c.2588-5C>T rs764684418 0.00003
NM_017617.5(NOTCH1):c.2635C>T (p.Arg879Trp) rs587778563 0.00003
NM_017617.5(NOTCH1):c.2654A>G (p.Gln885Arg) rs764327751 0.00003
NM_017617.5(NOTCH1):c.2665G>A (p.Gly889Ser) rs557590721 0.00003
NM_017617.5(NOTCH1):c.2725G>A (p.Asp909Asn) rs763217096 0.00003
NM_017617.5(NOTCH1):c.2895C>T (p.Asp965=) rs769901855 0.00003
NM_017617.5(NOTCH1):c.2995G>A (p.Val999Met) rs756840659 0.00003
NM_017617.5(NOTCH1):c.3012G>A (p.Ser1004=) rs371301397 0.00003
NM_017617.5(NOTCH1):c.3076G>A (p.Asp1026Asn) rs772134978 0.00003
NM_017617.5(NOTCH1):c.3110A>C (p.Gln1037Pro) rs1408874772 0.00003
NM_017617.5(NOTCH1):c.3171+12G>A rs753242532 0.00003
NM_017617.5(NOTCH1):c.3245G>A (p.Arg1082His) rs758471372 0.00003
NM_017617.5(NOTCH1):c.3341G>A (p.Arg1114His) rs777684045 0.00003
NM_017617.5(NOTCH1):c.3354T>C (p.His1118=) rs754633274 0.00003
NM_017617.5(NOTCH1):c.3405G>A (p.Ala1135=) rs192914380 0.00003
NM_017617.5(NOTCH1):c.3510+3G>A rs372739350 0.00003
NM_017617.5(NOTCH1):c.3552C>T (p.Ile1184=) rs773375573 0.00003
NM_017617.5(NOTCH1):c.3583G>A (p.Gly1195Arg) rs777194812 0.00003
NM_017617.5(NOTCH1):c.362C>T (p.Thr121Met) rs529738206 0.00003
NM_017617.5(NOTCH1):c.3643+17G>A rs376187570 0.00003
NM_017617.5(NOTCH1):c.3644-17G>A rs139960251 0.00003
NM_017617.5(NOTCH1):c.3644-18C>T rs575836415 0.00003
NM_017617.5(NOTCH1):c.3664G>A (p.Val1222Met) rs112900950 0.00003
NM_017617.5(NOTCH1):c.3684C>T (p.Pro1228=) rs753711100 0.00003
NM_017617.5(NOTCH1):c.3724G>A (p.Gly1242Ser) rs558191127 0.00003
NM_017617.5(NOTCH1):c.3860G>A (p.Arg1287His) rs763679772 0.00003
NM_017617.5(NOTCH1):c.3901+10G>A rs561404862 0.00003
NM_017617.5(NOTCH1):c.4013C>T (p.Ala1338Val) rs1397249771 0.00003
NM_017617.5(NOTCH1):c.4015-7C>T rs761783451 0.00003
NM_017617.5(NOTCH1):c.4077C>T (p.Asn1359=) rs775108554 0.00003
NM_017617.5(NOTCH1):c.4078G>A (p.Gly1360Ser) rs769493139 0.00003
NM_017617.5(NOTCH1):c.411G>A (p.Ser137=) rs560826996 0.00003
NM_017617.5(NOTCH1):c.4315G>A (p.Asp1439Asn) rs200232299 0.00003
NM_017617.5(NOTCH1):c.4356C>T (p.Pro1452=) rs770281345 0.00003
NM_017617.5(NOTCH1):c.4393C>T (p.Leu1465=) rs779863069 0.00003
NM_017617.5(NOTCH1):c.4412C>T (p.Ala1471Val) rs376799353 0.00003
NM_017617.5(NOTCH1):c.4596C>T (p.Tyr1532=) rs751774685 0.00003
NM_017617.5(NOTCH1):c.4671C>T (p.Asp1557=) rs757602593 0.00003
NM_017617.5(NOTCH1):c.4713C>T (p.Ala1571=) rs377357743 0.00003
NM_017617.5(NOTCH1):c.474C>T (p.Phe158=) rs774011231 0.00003
NM_017617.5(NOTCH1):c.4794C>T (p.Arg1598=) rs558708604 0.00003
NM_017617.5(NOTCH1):c.4918G>A (p.Ala1640Thr) rs976118697 0.00003
NM_017617.5(NOTCH1):c.500C>T (p.Pro167Leu) rs370951369 0.00003
NM_017617.5(NOTCH1):c.5014C>T (p.Arg1672Cys) rs745901158 0.00003
NM_017617.5(NOTCH1):c.5019C>G (p.Gly1673=) rs754785324 0.00003
NM_017617.5(NOTCH1):c.5103A>G (p.Ala1701=) rs776610176 0.00003
NM_017617.5(NOTCH1):c.5115G>A (p.Ala1705=) rs201797774 0.00003
NM_017617.5(NOTCH1):c.5154C>T (p.Ile1718=) rs755764089 0.00003
NM_017617.5(NOTCH1):c.5168-11C>T rs756486803 0.00003
NM_017617.5(NOTCH1):c.5220G>A (p.Ala1740=) rs758562368 0.00003
NM_017617.5(NOTCH1):c.526C>T (p.Arg176Trp) rs575513935 0.00003
NM_017617.5(NOTCH1):c.5361C>T (p.Leu1787=) rs760147171 0.00003
NM_017617.5(NOTCH1):c.5384+7G>A rs374235818 0.00003
NM_017617.5(NOTCH1):c.5407G>A (p.Gly1803Ser) rs369526652 0.00003
NM_017617.5(NOTCH1):c.5422G>A (p.Asp1808Asn) rs571739078 0.00003
NM_017617.5(NOTCH1):c.5499C>T (p.Asp1833=) rs754075361 0.00003
NM_017617.5(NOTCH1):c.5573T>C (p.Met1858Thr) rs375102032 0.00003
NM_017617.5(NOTCH1):c.5716G>A (p.Ala1906Thr) rs779880917 0.00003
NM_017617.5(NOTCH1):c.5733C>T (p.Ser1911=) rs61751534 0.00003
NM_017617.5(NOTCH1):c.5777G>A (p.Arg1926His) rs771407924 0.00003
NM_017617.5(NOTCH1):c.5892G>A (p.Pro1964=) rs769135138 0.00003
NM_017617.5(NOTCH1):c.5901G>A (p.Ala1967=) rs762092431 0.00003
NM_017617.5(NOTCH1):c.621C>T (p.Arg207=) rs756164624 0.00003
NM_017617.5(NOTCH1):c.6270G>A (p.Thr2090=) rs755970286 0.00003
NM_017617.5(NOTCH1):c.6294C>T (p.Arg2098=) rs777111928 0.00003
NM_017617.5(NOTCH1):c.6313A>G (p.Met2105Val) rs748138179 0.00003
NM_017617.5(NOTCH1):c.6351C>A (p.Asn2117Lys) rs755509796 0.00003
NM_017617.5(NOTCH1):c.6481C>T (p.Pro2161Ser) rs201518848 0.00003
NM_017617.5(NOTCH1):c.6665C>T (p.Pro2222Leu) rs779125725 0.00003
NM_017617.5(NOTCH1):c.6753C>T (p.Ala2251=) rs542875894 0.00003
NM_017617.5(NOTCH1):c.6760G>A (p.Glu2254Lys) rs1163673587 0.00003
NM_017617.5(NOTCH1):c.6770C>T (p.Ala2257Val) rs377112509 0.00003
NM_017617.5(NOTCH1):c.7017C>T (p.Ala2339=) rs1342843228 0.00003
NM_017617.5(NOTCH1):c.7115G>A (p.Arg2372Gln) rs373119531 0.00003
NM_017617.5(NOTCH1):c.7250C>T (p.Pro2417Leu) rs370652630 0.00003
NM_017617.5(NOTCH1):c.7279G>A (p.Gly2427Ser) rs370722609 0.00003
NM_017617.5(NOTCH1):c.7357G>A (p.Val2453Met) rs574436740 0.00003
NM_017617.5(NOTCH1):c.742+20G>A rs754496640 0.00003
NM_017617.5(NOTCH1):c.7431C>T (p.Thr2477=) rs748244353 0.00003
NM_017617.5(NOTCH1):c.7432G>A (p.Ala2478Thr) rs779039862 0.00003
NM_017617.5(NOTCH1):c.7541_7542del (p.Pro2514fs) rs763016003 0.00003
NM_017617.5(NOTCH1):c.7632G>C (p.Gln2544His) rs754570072 0.00003
NM_017617.5(NOTCH1):c.870G>A (p.Gln290=) rs779434286 0.00003
NM_017617.5(NOTCH1):c.927C>T (p.Gly309=) rs753681098 0.00003
NM_017617.5(NOTCH1):c.102C>T (p.Gly34=) rs777575093 0.00002
NM_017617.5(NOTCH1):c.1041C>T (p.Gly347=) rs553606088 0.00002
NM_017617.5(NOTCH1):c.1044C>T (p.Ala348=) rs749267756 0.00002
NM_017617.5(NOTCH1):c.1136A>G (p.Asn379Ser) rs752255207 0.00002
NM_017617.5(NOTCH1):c.1221G>A (p.Pro407=) rs367567190 0.00002
NM_017617.5(NOTCH1):c.1250C>T (p.Ser417Leu) rs757631575 0.00002
NM_017617.5(NOTCH1):c.1256-15G>A rs200086842 0.00002
NM_017617.5(NOTCH1):c.1269C>T (p.Cys423=) rs775219296 0.00002
NM_017617.5(NOTCH1):c.1308C>T (p.Phe436=) rs758751583 0.00002
NM_017617.5(NOTCH1):c.1357G>A (p.Val453Ile) rs761629787 0.00002
NM_017617.5(NOTCH1):c.1362C>T (p.Asn454=) rs373152976 0.00002
NM_017617.5(NOTCH1):c.1368C>T (p.Cys456=) rs559866409 0.00002
NM_017617.5(NOTCH1):c.1441+8G>A rs765031085 0.00002
NM_017617.5(NOTCH1):c.148G>A (p.Gly50Arg) rs776758626 0.00002
NM_017617.5(NOTCH1):c.152C>A (p.Ala51Asp) rs771954465 0.00002
NM_017617.5(NOTCH1):c.1555+18C>G rs376982757 0.00002
NM_017617.5(NOTCH1):c.1677G>A (p.Thr559=) rs1391226025 0.00002
NM_017617.5(NOTCH1):c.1693G>A (p.Val565Met) rs750330670 0.00002
NM_017617.5(NOTCH1):c.1731C>T (p.Tyr577=) rs377472138 0.00002
NM_017617.5(NOTCH1):c.1749C>T (p.Gly583=) rs751367001 0.00002
NM_017617.5(NOTCH1):c.1758C>A (p.Thr586=) rs369523266 0.00002
NM_017617.5(NOTCH1):c.1800C>T (p.Cys600=) rs755070916 0.00002
NM_017617.5(NOTCH1):c.1861C>T (p.Arg621Cys) rs774622686 0.00002
NM_017617.5(NOTCH1):c.1953C>T (p.Asp651=) rs752168856 0.00002
NM_017617.5(NOTCH1):c.2014+6C>T rs529806324 0.00002
NM_017617.5(NOTCH1):c.2014+7G>A rs562353347 0.00002
NM_017617.5(NOTCH1):c.2068G>A (p.Gly690Arg) rs764112977 0.00002
NM_017617.5(NOTCH1):c.2086G>A (p.Gly696Ser) rs373556820 0.00002
NM_017617.5(NOTCH1):c.2112C>T (p.Cys704=) rs757495549 0.00002
NM_017617.5(NOTCH1):c.2207+7G>A rs138935812 0.00002
NM_017617.5(NOTCH1):c.2217C>T (p.Cys739=) rs752226005 0.00002
NM_017617.5(NOTCH1):c.226G>A (p.Val76Met) rs532574807 0.00002
NM_017617.5(NOTCH1):c.2297G>T (p.Gly766Val) rs374434131 0.00002
NM_017617.5(NOTCH1):c.242G>A (p.Gly81Asp) rs749152413 0.00002
NM_017617.5(NOTCH1):c.2441A>G (p.Lys814Arg) rs747529236 0.00002
NM_017617.5(NOTCH1):c.2468-20C>T rs756381967 0.00002
NM_017617.5(NOTCH1):c.2482G>A (p.Val828Met) rs772945824 0.00002
NM_017617.5(NOTCH1):c.2523C>T (p.Gly841=) rs779908981 0.00002
NM_017617.5(NOTCH1):c.2588-9G>T rs757973986 0.00002
NM_017617.5(NOTCH1):c.2741-18C>T rs775954871 0.00002
NM_017617.5(NOTCH1):c.2754C>T (p.Asn918=) rs373787791 0.00002
NM_017617.5(NOTCH1):c.2812C>T (p.Arg938Trp) rs554142958 0.00002
NM_017617.5(NOTCH1):c.2835C>G (p.Asp945Glu) rs756174213 0.00002
NM_017617.5(NOTCH1):c.2903C>T (p.Thr968Met) rs781201059 0.00002
NM_017617.5(NOTCH1):c.2917G>A (p.Ala973Thr) rs200699541 0.00002
NM_017617.5(NOTCH1):c.2928C>T (p.Ser976=) rs534911025 0.00002
NM_017617.5(NOTCH1):c.2937C>T (p.His979=) rs1406216361 0.00002
NM_017617.5(NOTCH1):c.2969+7G>A rs770026189 0.00002
NM_017617.5(NOTCH1):c.3099C>T (p.Gly1033=) rs775567314 0.00002
NM_017617.5(NOTCH1):c.3171+8C>T rs985717588 0.00002
NM_017617.5(NOTCH1):c.3172-12A>G rs547259185 0.00002
NM_017617.5(NOTCH1):c.3269C>G (p.Thr1090Ser) rs761508282 0.00002
NM_017617.5(NOTCH1):c.3286G>A (p.Val1096Met) rs369730402 0.00002
NM_017617.5(NOTCH1):c.3325+9C>A rs1413516206 0.00002
NM_017617.5(NOTCH1):c.334C>T (p.Arg112Cys) rs1399392600 0.00002
NM_017617.5(NOTCH1):c.3503C>T (p.Ser1168Phe) rs375190395 0.00002
NM_017617.5(NOTCH1):c.3564C>T (p.Leu1188=) rs367932079 0.00002
NM_017617.5(NOTCH1):c.363G>A (p.Thr121=) rs777400734 0.00002
NM_017617.5(NOTCH1):c.3642G>A (p.Gln1214=) rs577243605 0.00002
NM_017617.5(NOTCH1):c.3679C>T (p.Pro1227Ser) rs777652834 0.00002
NM_017617.5(NOTCH1):c.3701G>A (p.Arg1234Gln) rs773926521 0.00002
NM_017617.5(NOTCH1):c.3741G>C (p.Gln1247His) rs781658171 0.00002
NM_017617.5(NOTCH1):c.3748G>A (p.Gly1250Ser) rs771192471 0.00002
NM_017617.5(NOTCH1):c.3770C>T (p.Pro1257Leu) rs200245794 0.00002
NM_017617.5(NOTCH1):c.3777C>T (p.Phe1259=) rs761586260 0.00002
NM_017617.5(NOTCH1):c.3859C>T (p.Arg1287Cys) rs751275854 0.00002
NM_017617.5(NOTCH1):c.3861C>T (p.Arg1287=) rs758031388 0.00002
NM_017617.5(NOTCH1):c.3900C>T (p.Thr1300=) rs201791826 0.00002
NM_017617.5(NOTCH1):c.393C>T (p.Pro131=) rs1250243662 0.00002
NM_017617.5(NOTCH1):c.4067G>A (p.Arg1356His) rs864622727 0.00002
NM_017617.5(NOTCH1):c.4251C>T (p.Pro1417=) rs1453185145 0.00002
NM_017617.5(NOTCH1):c.4252G>A (p.Ala1418Thr) rs1290588213 0.00002
NM_017617.5(NOTCH1):c.4308C>T (p.Ala1436=) rs749702298 0.00002
NM_017617.5(NOTCH1):c.4312C>T (p.Arg1438Cys) rs746077264 0.00002
NM_017617.5(NOTCH1):c.4326G>A (p.Pro1442=) rs376469653 0.00002
NM_017617.5(NOTCH1):c.4329G>A (p.Pro1443=) rs1466689418 0.00002
NM_017617.5(NOTCH1):c.4348G>A (p.Glu1450Lys) rs147841035 0.00002
NM_017617.5(NOTCH1):c.4543C>T (p.Leu1515Phe) rs765839822 0.00002
NM_017617.5(NOTCH1):c.4587-11G>A rs778356792 0.00002
NM_017617.5(NOTCH1):c.4698C>T (p.Pro1566=) rs200462746 0.00002
NM_017617.5(NOTCH1):c.4746G>A (p.Pro1582=) rs886038974 0.00002
NM_017617.5(NOTCH1):c.5004C>T (p.Pro1668=) rs1200928521 0.00002
NM_017617.5(NOTCH1):c.5010C>T (p.Asp1670=) rs780348772 0.00002
NM_017617.5(NOTCH1):c.5023A>G (p.Ile1675Val) rs375408767 0.00002
NM_017617.5(NOTCH1):c.5050C>A (p.Gln1684Lys) rs1843029493 0.00002
NM_017617.5(NOTCH1):c.5069C>T (p.Ser1690Leu) rs552065719 0.00002
NM_017617.5(NOTCH1):c.5167+19C>T rs751046078 0.00002
NM_017617.5(NOTCH1):c.5190G>A (p.Pro1730=) rs369854704 0.00002
NM_017617.5(NOTCH1):c.5208C>T (p.Phe1736=) rs781386640 0.00002
NM_017617.5(NOTCH1):c.5340G>A (p.Lys1780=) rs148187717 0.00002
NM_017617.5(NOTCH1):c.5398G>A (p.Ala1800Thr) rs569203312 0.00002
NM_017617.5(NOTCH1):c.5471G>A (p.Arg1824Gln) rs765309913 0.00002
NM_017617.5(NOTCH1):c.5562C>T (p.Arg1854=) rs777125560 0.00002
NM_017617.5(NOTCH1):c.5639-17C>T rs749795813 0.00002
NM_017617.5(NOTCH1):c.5720C>T (p.Pro1907Leu) rs970443298 0.00002
NM_017617.5(NOTCH1):c.5830G>A (p.Ala1944Thr) rs371414501 0.00002
NM_017617.5(NOTCH1):c.5837G>A (p.Arg1946His) rs777423973 0.00002
NM_017617.5(NOTCH1):c.5916C>T (p.Asp1972=) rs1045892978 0.00002
NM_017617.5(NOTCH1):c.5934+8G>A rs747822127 0.00002
NM_017617.5(NOTCH1):c.6228C>T (p.Thr2076=) rs531156367 0.00002
NM_017617.5(NOTCH1):c.6229G>A (p.Ala2077Thr) rs759749364 0.00002
NM_017617.5(NOTCH1):c.6321C>T (p.His2107=) rs532201830 0.00002
NM_017617.5(NOTCH1):c.6365C>T (p.Pro2122Leu) rs767587816 0.00002
NM_017617.5(NOTCH1):c.6366G>A (p.Pro2122=) rs762003410 0.00002
NM_017617.5(NOTCH1):c.645C>T (p.Cys215=) rs974424401 0.00002
NM_017617.5(NOTCH1):c.6498G>A (p.Leu2166=) rs201289055 0.00002
NM_017617.5(NOTCH1):c.6749C>T (p.Ala2250Val) rs777809068 0.00002
NM_017617.5(NOTCH1):c.6814C>T (p.Arg2272Cys) rs752505638 0.00002
NM_017617.5(NOTCH1):c.6948C>T (p.Ser2316=) rs771142030 0.00002
NM_017617.5(NOTCH1):c.6979C>T (p.Arg2327Trp) rs751007903 0.00002
NM_017617.5(NOTCH1):c.708G>A (p.Thr236=) rs774679591 0.00002
NM_017617.5(NOTCH1):c.7158G>A (p.Gln2386=) rs371664086 0.00002
NM_017617.5(NOTCH1):c.7224G>A (p.Leu2408=) rs761927126 0.00002
NM_017617.5(NOTCH1):c.723C>T (p.His241=) rs11574873 0.00002
NM_017617.5(NOTCH1):c.7260C>T (p.Gly2420=) rs1032110986 0.00002
NM_017617.5(NOTCH1):c.7278C>T (p.Ser2426=) rs757461161 0.00002
NM_017617.5(NOTCH1):c.7284C>T (p.His2428=) rs1248029549 0.00002
NM_017617.5(NOTCH1):c.7372C>A (p.Pro2458Thr) rs752802795 0.00002
NM_017617.5(NOTCH1):c.742+12C>T rs1303732934 0.00002
NM_017617.5(NOTCH1):c.7458G>A (p.Ser2486=) rs781225824 0.00002
NM_017617.5(NOTCH1):c.7605C>T (p.Gly2535=) rs757253280 0.00002
NM_017617.5(NOTCH1):c.775G>A (p.Asp259Asn) rs763187824 0.00002
NM_017617.5(NOTCH1):c.823G>A (p.Gly275Ser) rs371333249 0.00002
NM_017617.5(NOTCH1):c.948C>T (p.His316=) rs904456632 0.00002
NM_017617.5(NOTCH1):c.1000G>A (p.Glu334Lys) rs779061035 0.00001
NM_017617.5(NOTCH1):c.1007T>C (p.Ile336Thr) rs753734433 0.00001
NM_017617.5(NOTCH1):c.1039G>A (p.Gly347Ser) rs746187371 0.00001
NM_017617.5(NOTCH1):c.1077C>T (p.Cys359=) rs202235419 0.00001
NM_017617.5(NOTCH1):c.1094G>A (p.Arg365His) rs775991013 0.00001
NM_017617.5(NOTCH1):c.1099+16C>T rs777024482 0.00001
NM_017617.5(NOTCH1):c.1099+8C>T rs555823368 0.00001
NM_017617.5(NOTCH1):c.1099+9C>T rs1057523772 0.00001
NM_017617.5(NOTCH1):c.1100-13G>A rs762047198 0.00001
NM_017617.5(NOTCH1):c.1100-7T>C rs376603720 0.00001
NM_017617.5(NOTCH1):c.1135A>C (p.Asn379His) rs758017301 0.00001
NM_017617.5(NOTCH1):c.1161C>T (p.Cys387=) rs761176244 0.00001
NM_017617.5(NOTCH1):c.1185G>A (p.Lys395=) rs774399901 0.00001
NM_017617.5(NOTCH1):c.1188C>G (p.Ala396=) rs779573597 0.00001
NM_017617.5(NOTCH1):c.1205C>T (p.Ser402Leu) rs1037236860 0.00001
NM_017617.5(NOTCH1):c.1214C>T (p.Thr405Met) rs370746889 0.00001
NM_017617.5(NOTCH1):c.1215G>A (p.Thr405=) rs747864683 0.00001
NM_017617.5(NOTCH1):c.1220C>T (p.Pro407Leu) rs754529382 0.00001
NM_017617.5(NOTCH1):c.1236C>T (p.Asp412=) rs780769573 0.00001
NM_017617.5(NOTCH1):c.1237G>A (p.Val413Met) rs373770404 0.00001
NM_017617.5(NOTCH1):c.123T>C (p.Asn41=) rs1207676067 0.00001
NM_017617.5(NOTCH1):c.1255+9C>T rs775401272 0.00001
NM_017617.5(NOTCH1):c.1266C>G (p.Pro422=) rs762533002 0.00001
NM_017617.5(NOTCH1):c.1275T>C (p.His425=) rs1443278185 0.00001
NM_017617.5(NOTCH1):c.1278G>A (p.Ala426=) rs781782610 0.00001
NM_017617.5(NOTCH1):c.1293C>T (p.Asn431=) rs372751855 0.00001
NM_017617.5(NOTCH1):c.1296G>T (p.Thr432=) rs747450858 0.00001
NM_017617.5(NOTCH1):c.1309G>A (p.Glu437Lys) rs1060502238 0.00001
NM_017617.5(NOTCH1):c.1335G>A (p.Thr445=) rs564566136 0.00001
NM_017617.5(NOTCH1):c.1356C>T (p.Asp452=) rs767527946 0.00001
NM_017617.5(NOTCH1):c.1369G>A (p.Val457Ile) rs573153379 0.00001
NM_017617.5(NOTCH1):c.1380G>A (p.Pro460=) rs368963607 0.00001
NM_017617.5(NOTCH1):c.1384C>G (p.Gln462Glu) rs747502723 0.00001
NM_017617.5(NOTCH1):c.1392C>T (p.Asp464=) rs748499336 0.00001
NM_017617.5(NOTCH1):c.1407C>T (p.Asp469=) rs1405995623 0.00001
NM_017617.5(NOTCH1):c.1441+12G>A rs759506343 0.00001
NM_017617.5(NOTCH1):c.1442-7C>T rs1410661374 0.00001
NM_017617.5(NOTCH1):c.1461C>T (p.Cys487=) rs754876256 0.00001
NM_017617.5(NOTCH1):c.1462G>A (p.Glu488Lys) rs753661188 0.00001
NM_017617.5(NOTCH1):c.1476C>T (p.Asp492=) rs749990260 0.00001
NM_017617.5(NOTCH1):c.1512C>A (p.Arg504=) rs763271019 0.00001
NM_017617.5(NOTCH1):c.1555+17C>A rs760877301 0.00001
NM_017617.5(NOTCH1):c.1555+9C>T rs764637985 0.00001
NM_017617.5(NOTCH1):c.1556-15C>T rs769589921 0.00001
NM_017617.5(NOTCH1):c.157G>A (p.Val53Met) rs757497167 0.00001
NM_017617.5(NOTCH1):c.1581C>T (p.Tyr527=) rs1299929890 0.00001
NM_017617.5(NOTCH1):c.1582G>A (p.Asp528Asn) rs757988142 0.00001
NM_017617.5(NOTCH1):c.1636G>A (p.Gly546Arg) rs764185451 0.00001
NM_017617.5(NOTCH1):c.1641C>G (p.Pro547=) rs759501071 0.00001
NM_017617.5(NOTCH1):c.1644C>T (p.Asn548=) rs776488663 0.00001
NM_017617.5(NOTCH1):c.1648T>G (p.Tyr550Asp) rs1843262478 0.00001
NM_017617.5(NOTCH1):c.1669+12C>T rs780649182 0.00001
NM_017617.5(NOTCH1):c.1669+5G>A rs771590616 0.00001
NM_017617.5(NOTCH1):c.1670-7G>T rs1242028632 0.00001
NM_017617.5(NOTCH1):c.1676C>T (p.Thr559Met) rs376055493 0.00001
NM_017617.5(NOTCH1):c.1683G>A (p.Thr561=) rs766351093 0.00001
NM_017617.5(NOTCH1):c.1701C>T (p.Ile567=) rs773932034 0.00001
NM_017617.5(NOTCH1):c.1710C>T (p.Cys570=) rs762590262 0.00001
NM_017617.5(NOTCH1):c.1716C>T (p.Pro572=) rs746366255 0.00001
NM_017617.5(NOTCH1):c.1721C>T (p.Pro574Leu) rs771263341 0.00001
NM_017617.5(NOTCH1):c.1750G>A (p.Val584Ile) rs763886355 0.00001
NM_017617.5(NOTCH1):c.1760T>A (p.Phe587Tyr) rs771440130 0.00001
NM_017617.5(NOTCH1):c.1761C>T (p.Phe587=) rs1176092277 0.00001
NM_017617.5(NOTCH1):c.1775G>A (p.Arg592His) rs544117297 0.00001
NM_017617.5(NOTCH1):c.1778C>T (p.Pro593Leu) rs886039014 0.00001
NM_017617.5(NOTCH1):c.1788G>A (p.Thr596=) rs925293836 0.00001
NM_017617.5(NOTCH1):c.1815C>T (p.Asn605=) rs781029850 0.00001
NM_017617.5(NOTCH1):c.1838G>A (p.Arg613His) rs369522885 0.00001
NM_017617.5(NOTCH1):c.1842C>T (p.His614=) rs375349485 0.00001
NM_017617.5(NOTCH1):c.1843G>A (p.Gly615Arg) rs764942073 0.00001
NM_017617.5(NOTCH1):c.1903+6C>T rs753388966 0.00001
NM_017617.5(NOTCH1):c.1904-4T>C rs552137707 0.00001
NM_017617.5(NOTCH1):c.1904-7C>T rs771097212 0.00001
NM_017617.5(NOTCH1):c.1918A>G (p.Ile640Val) rs1307313338 0.00001
NM_017617.5(NOTCH1):c.1924C>G (p.Leu642Val) rs755740633 0.00001
NM_017617.5(NOTCH1):c.1929T>C (p.Asp643=) rs527323201 0.00001
NM_017617.5(NOTCH1):c.1951G>A (p.Asp651Asn) rs1182867386 0.00001
NM_017617.5(NOTCH1):c.1972A>G (p.Lys658Glu) rs1260932753 0.00001
NM_017617.5(NOTCH1):c.1977C>A (p.Ile659=) rs766577980 0.00001
NM_017617.5(NOTCH1):c.197C>T (p.Thr66Ile) rs752133245 0.00001
NM_017617.5(NOTCH1):c.1986C>T (p.Tyr662=) rs749156185 0.00001
NM_017617.5(NOTCH1):c.1987G>A (p.Glu663Lys) rs548000491 0.00001
NM_017617.5(NOTCH1):c.2015-14C>T rs149013721 0.00001
NM_017617.5(NOTCH1):c.2015-8G>T rs1272176843 0.00001
NM_017617.5(NOTCH1):c.2038G>A (p.Asp680Asn) rs749761941 0.00001
NM_017617.5(NOTCH1):c.2047G>A (p.Ala683Thr) rs756434709 0.00001
NM_017617.5(NOTCH1):c.2067C>T (p.Asn689=) rs751619078 0.00001
NM_017617.5(NOTCH1):c.2074A>G (p.Thr692Ala) rs1385815860 0.00001
NM_017617.5(NOTCH1):c.2079C>T (p.Cys693=) rs753710836 0.00001
NM_017617.5(NOTCH1):c.2115C>T (p.Pro705=) rs777838108 0.00001
NM_017617.5(NOTCH1):c.2116G>A (p.Glu706Lys) rs368494947 0.00001
NM_017617.5(NOTCH1):c.211G>A (p.Ala71Thr) rs753106233 0.00001
NM_017617.5(NOTCH1):c.2127C>T (p.His709=) rs755898711 0.00001
NM_017617.5(NOTCH1):c.2128G>A (p.Asp710Asn) rs950236535 0.00001
NM_017617.5(NOTCH1):c.2134A>G (p.Thr712Ala) rs200692749 0.00001
NM_017617.5(NOTCH1):c.213C>T (p.Ala71=) rs765437443 0.00001
NM_017617.5(NOTCH1):c.2175C>T (p.Cys725=) rs770313470 0.00001
NM_017617.5(NOTCH1):c.2207+5G>A rs1214619547 0.00001
NM_017617.5(NOTCH1):c.2207+9C>T rs751315476 0.00001
NM_017617.5(NOTCH1):c.2261A>G (p.Asn754Ser) rs761072761 0.00001
NM_017617.5(NOTCH1):c.230T>G (p.Val77Gly) rs760700593 0.00001
NM_017617.5(NOTCH1):c.2311A>G (p.Met771Val) rs371117125 0.00001
NM_017617.5(NOTCH1):c.2339G>A (p.Arg780Gln) rs750859847 0.00001
NM_017617.5(NOTCH1):c.2340G>A (p.Arg780=) rs767935604 0.00001
NM_017617.5(NOTCH1):c.2353+15C>T rs773271446 0.00001
NM_017617.5(NOTCH1):c.2425G>A (p.Asp809Asn) rs762729988 0.00001
NM_017617.5(NOTCH1):c.244G>A (p.Val82Met) rs571831870 0.00001
NM_017617.5(NOTCH1):c.2464A>G (p.Thr822Ala) rs1245057191 0.00001
NM_017617.5(NOTCH1):c.2468-4G>A rs752696927 0.00001
NM_017617.5(NOTCH1):c.2474C>T (p.Thr825Met) rs754775789 0.00001
NM_017617.5(NOTCH1):c.2497T>A (p.Cys833Ser) rs775954717 0.00001
NM_017617.5(NOTCH1):c.2501C>T (p.Ala834Val) rs202144877 0.00001
NM_017617.5(NOTCH1):c.2510C>G (p.Pro837Arg) rs777663026 0.00001
NM_017617.5(NOTCH1):c.2564G>A (p.Cys855Tyr) rs759862433 0.00001
NM_017617.5(NOTCH1):c.2577G>A (p.Thr859=) rs747189377 0.00001
NM_017617.5(NOTCH1):c.2588-15C>T rs757061203 0.00001
NM_017617.5(NOTCH1):c.2597G>C (p.Cys866Ser) rs763469662 0.00001
NM_017617.5(NOTCH1):c.2605G>A (p.Asp869Asn) rs1420968156 0.00001
NM_017617.5(NOTCH1):c.2611A>G (p.Asn871Asp) rs200235006 0.00001
NM_017617.5(NOTCH1):c.2614G>A (p.Glu872Lys) rs762050048 0.00001
NM_017617.5(NOTCH1):c.2630C>T (p.Pro877Leu) rs371050668 0.00001
NM_017617.5(NOTCH1):c.2631G>A (p.Pro877=) rs777573424 0.00001
NM_017617.5(NOTCH1):c.2641G>A (p.Gly881Ser) rs756555345 0.00001
NM_017617.5(NOTCH1):c.2643C>T (p.Gly881=) rs750777328 0.00001
NM_017617.5(NOTCH1):c.2644G>A (p.Ala882Thr) rs767886377 0.00001
NM_017617.5(NOTCH1):c.2675G>A (p.Arg892His) rs199506721 0.00001
NM_017617.5(NOTCH1):c.2692G>A (p.Gly898Ser) rs748777783 0.00001
NM_017617.5(NOTCH1):c.2704C>T (p.Arg902Cys) rs1448345366 0.00001
NM_017617.5(NOTCH1):c.2712C>T (p.Cys904=) rs369645726 0.00001
NM_017617.5(NOTCH1):c.2719G>A (p.Asp907Asn) rs757628476 0.00001
NM_017617.5(NOTCH1):c.2735G>A (p.Arg912Gln) rs773185855 0.00001
NM_017617.5(NOTCH1):c.2741-13C>T rs545249713 0.00001
NM_017617.5(NOTCH1):c.2741-9C>A rs758820499 0.00001
NM_017617.5(NOTCH1):c.2745G>A (p.Pro915=) rs766331471 0.00001
NM_017617.5(NOTCH1):c.2753A>G (p.Asn918Ser) rs367586502 0.00001
NM_017617.5(NOTCH1):c.2806G>A (p.Gly936Ser) rs773847667 0.00001
NM_017617.5(NOTCH1):c.2820T>A (p.Thr940=) rs199912866 0.00001
NM_017617.5(NOTCH1):c.2823C>T (p.Phe941=) rs749408618 0.00001
NM_017617.5(NOTCH1):c.2869G>A (p.Gly957Arg) rs773902766 0.00001
NM_017617.5(NOTCH1):c.2876A>C (p.Asn959Thr) rs1358942894 0.00001
NM_017617.5(NOTCH1):c.2882C>T (p.Thr961Met) rs377343669 0.00001
NM_017617.5(NOTCH1):c.2916C>T (p.Pro972=) rs754724517 0.00001
NM_017617.5(NOTCH1):c.2951C>T (p.Thr984Met) rs769132985 0.00001
NM_017617.5(NOTCH1):c.2970-15C>G rs749173624 0.00001
NM_017617.5(NOTCH1):c.2983G>A (p.Gly995Ser) rs868369610 0.00001
NM_017617.5(NOTCH1):c.3015C>T (p.Phe1005=) rs991348745 0.00001
NM_017617.5(NOTCH1):c.3033C>T (p.Pro1011=) rs941714067 0.00001
NM_017617.5(NOTCH1):c.3034G>A (p.Gly1012Ser) rs776957107 0.00001
NM_017617.5(NOTCH1):c.3040A>T (p.Thr1014Ser) rs1181594680 0.00001
NM_017617.5(NOTCH1):c.3061G>A (p.Asp1021Asn) rs760908627 0.00001
NM_017617.5(NOTCH1):c.3068A>G (p.Asn1023Ser) rs937138982 0.00001
NM_017617.5(NOTCH1):c.3075C>T (p.Cys1025=) rs764208271 0.00001
NM_017617.5(NOTCH1):c.3095A>G (p.His1032Arg) rs1397562033 0.00001
NM_017617.5(NOTCH1):c.3100G>A (p.Gly1034Ser) rs981281975 0.00001
NM_017617.5(NOTCH1):c.3120C>T (p.Cys1040=) rs1189026962 0.00001
NM_017617.5(NOTCH1):c.3141C>T (p.Cys1047=) rs1221606038 0.00001
NM_017617.5(NOTCH1):c.314C>G (p.Ala105Gly) rs1212259128 0.00001
NM_017617.5(NOTCH1):c.3160C>A (p.Pro1054Thr) rs1018501056 0.00001
NM_017617.5(NOTCH1):c.3172-7T>C rs370144650 0.00001
NM_017617.5(NOTCH1):c.3190G>A (p.Asp1064Asn) rs375931404 0.00001
NM_017617.5(NOTCH1):c.3211G>A (p.Gly1071Ser) rs587778566 0.00001
NM_017617.5(NOTCH1):c.3213C>T (p.Gly1071=) rs528993886 0.00001
NM_017617.5(NOTCH1):c.3214G>A (p.Gly1072Ser) rs780582836 0.00001
NM_017617.5(NOTCH1):c.3231C>T (p.Thr1077=) rs781656729 0.00001
NM_017617.5(NOTCH1):c.3244C>T (p.Arg1082Cys) rs1386494518 0.00001
NM_017617.5(NOTCH1):c.3261C>T (p.Ser1087=) rs543586029 0.00001
NM_017617.5(NOTCH1):c.3285C>T (p.Asp1095=) rs770364830 0.00001
NM_017617.5(NOTCH1):c.3326-5C>T rs765346348 0.00001
NM_017617.5(NOTCH1):c.3350A>G (p.Gln1117Arg) rs764816819 0.00001
NM_017617.5(NOTCH1):c.3363C>G (p.Leu1121=) rs534486656 0.00001
NM_017617.5(NOTCH1):c.3387C>T (p.His1129=) rs1843117451 0.00001
NM_017617.5(NOTCH1):c.3404C>T (p.Ala1135Val) rs370300490 0.00001
NM_017617.5(NOTCH1):c.3408C>G (p.Gly1136=) rs1171001832 0.00001
NM_017617.5(NOTCH1):c.3441C>T (p.Asp1147=) rs377488165 0.00001
NM_017617.5(NOTCH1):c.3442G>A (p.Glu1148Lys) rs1060502239 0.00001
NM_017617.5(NOTCH1):c.3469G>A (p.Gly1157Arg) rs549630973 0.00001
NM_017617.5(NOTCH1):c.347C>T (p.Thr116Ile) rs1308100068 0.00001
NM_017617.5(NOTCH1):c.3482C>T (p.Thr1161Met) rs769903954 0.00001
NM_017617.5(NOTCH1):c.3495C>T (p.Gly1165=) rs778909557 0.00001
NM_017617.5(NOTCH1):c.3496G>A (p.Gly1166Ser) rs754815022 0.00001
NM_017617.5(NOTCH1):c.3514G>A (p.Val1172Met) rs1234358553 0.00001
NM_017617.5(NOTCH1):c.351C>T (p.Cys117=) rs768642611 0.00001
NM_017617.5(NOTCH1):c.3529G>A (p.Gly1177Arg) rs754086177 0.00001
NM_017617.5(NOTCH1):c.3555C>T (p.Asp1185=) rs530064649 0.00001
NM_017617.5(NOTCH1):c.355C>T (p.Leu119=) rs1458520239 0.00001
NM_017617.5(NOTCH1):c.3569A>G (p.His1190Arg) rs775438678 0.00001
NM_017617.5(NOTCH1):c.3570C>A (p.His1190Gln) rs769619561 0.00001
NM_017617.5(NOTCH1):c.3582C>T (p.Asn1194=) rs746547529 0.00001
NM_017617.5(NOTCH1):c.3598G>A (p.Asp1200Asn) rs544640305 0.00001
NM_017617.5(NOTCH1):c.360C>T (p.Leu120=) rs541839947 0.00001
NM_017617.5(NOTCH1):c.3631C>T (p.Arg1211Trp) rs766644919 0.00001
NM_017617.5(NOTCH1):c.3632G>A (p.Arg1211Gln) rs756362905 0.00001
NM_017617.5(NOTCH1):c.3643+10G>A rs1159458812 0.00001
NM_017617.5(NOTCH1):c.3643+13G>C rs759356560 0.00001
NM_017617.5(NOTCH1):c.3643+9C>T rs764985096 0.00001
NM_017617.5(NOTCH1):c.3644-7C>G rs1243301340 0.00001
NM_017617.5(NOTCH1):c.365T>G (p.Leu122Arg) rs984769025 0.00001
NM_017617.5(NOTCH1):c.3663C>T (p.Asn1221=) rs780527525 0.00001
NM_017617.5(NOTCH1):c.3669C>T (p.Asp1223=) rs781546439 0.00001
NM_017617.5(NOTCH1):c.3685G>A (p.Val1229Ile) rs766198119 0.00001
NM_017617.5(NOTCH1):c.3693C>T (p.Pro1231=) rs1330174392 0.00001
NM_017617.5(NOTCH1):c.3694G>A (p.Val1232Met) rs750169914 0.00001
NM_017617.5(NOTCH1):c.3706C>T (p.Pro1236Ser) rs749988739 0.00001
NM_017617.5(NOTCH1):c.3710A>G (p.Lys1237Arg) rs576434469 0.00001
NM_017617.5(NOTCH1):c.3723C>T (p.Asn1241=) rs369637862 0.00001
NM_017617.5(NOTCH1):c.3733G>A (p.Val1245Met) rs926643780 0.00001
NM_017617.5(NOTCH1):c.3787C>T (p.Arg1263Cys) rs1415111675 0.00001
NM_017617.5(NOTCH1):c.3829G>A (p.Asp1277Asn) rs550872754 0.00001
NM_017617.5(NOTCH1):c.3862G>A (p.Val1288Ile) rs752264096 0.00001
NM_017617.5(NOTCH1):c.3866A>G (p.Asn1289Ser) rs1281437674 0.00001
NM_017617.5(NOTCH1):c.3874C>T (p.His1292Tyr) rs372348365 0.00001
NM_017617.5(NOTCH1):c.3879C>T (p.Cys1293=) rs777242726 0.00001
NM_017617.5(NOTCH1):c.389C>T (p.Pro130Leu) rs750539322 0.00001
NM_017617.5(NOTCH1):c.3901G>A (p.Gly1301Arg) rs1227711223 0.00001
NM_017617.5(NOTCH1):c.3908G>A (p.Arg1303His) rs768775024 0.00001
NM_017617.5(NOTCH1):c.3954T>A (p.Asn1318Lys) rs754634957 0.00001
NM_017617.5(NOTCH1):c.3960C>T (p.Gly1320=) rs1843089049 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.3991G>A (p.Gly1331Arg) rs769908800 0.00001
NM_017617.5(NOTCH1):c.4010C>G (p.Pro1337Arg) rs1043832212 0.00001
NM_017617.5(NOTCH1):c.4014+8C>G rs748956877 0.00001
NM_017617.5(NOTCH1):c.4024G>A (p.Gly1342Ser) rs748933222 0.00001
NM_017617.5(NOTCH1):c.4052C>T (p.Thr1351Ile) rs1357611221 0.00001
NM_017617.5(NOTCH1):c.4057G>A (p.Gly1353Ser) rs761908188 0.00001
NM_017617.5(NOTCH1):c.4066C>T (p.Arg1356Cys) rs587778567 0.00001
NM_017617.5(NOTCH1):c.4074C>T (p.Leu1358=) rs762830852 0.00001
NM_017617.5(NOTCH1):c.4080C>T (p.Gly1360=) rs745455844 0.00001
NM_017617.5(NOTCH1):c.4086A>G (p.Thr1362=) rs1394594896 0.00001
NM_017617.5(NOTCH1):c.408A>G (p.Lys136=) rs769259782 0.00001
NM_017617.5(NOTCH1):c.4100C>T (p.Pro1367Leu) rs758787267 0.00001
NM_017617.5(NOTCH1):c.4103G>A (p.Arg1368His) rs779086531 0.00001
NM_017617.5(NOTCH1):c.4128C>T (p.Gly1376=) rs1292953898 0.00001
NM_017617.5(NOTCH1):c.4136C>T (p.Thr1379Met) rs764123906 0.00001
NM_017617.5(NOTCH1):c.4158G>A (p.Pro1386=) rs760205847 0.00001
NM_017617.5(NOTCH1):c.4180G>A (p.Gly1394Ser) rs1210347209 0.00001
NM_017617.5(NOTCH1):c.4197C>T (p.Asn1399=) rs989398598 0.00001
NM_017617.5(NOTCH1):c.4237C>A (p.Arg1413Ser) rs1348438354 0.00001
NM_017617.5(NOTCH1):c.4263C>T (p.Asn1421=) rs547687521 0.00001
NM_017617.5(NOTCH1):c.4264G>A (p.Gly1422Arg) rs1255471066 0.00001
NM_017617.5(NOTCH1):c.4271T>C (p.Leu1424Ser) rs954507677 0.00001
NM_017617.5(NOTCH1):c.4272G>A (p.Leu1424=) rs1352111936 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.4336G>A (p.Glu1446Lys) rs1198437870 0.00001
NM_017617.5(NOTCH1):c.4357G>A (p.Glu1453Lys) rs746144524 0.00001
NM_017617.5(NOTCH1):c.4374G>A (p.Ala1458=) rs777768691 0.00001
NM_017617.5(NOTCH1):c.4410C>T (p.His1470=) rs750183248 0.00001
NM_017617.5(NOTCH1):c.4413G>A (p.Ala1471=) rs756867304 0.00001
NM_017617.5(NOTCH1):c.4417G>A (p.Gly1473Ser) rs763685504 0.00001
NM_017617.5(NOTCH1):c.4425C>T (p.Asp1475=) rs371948072 0.00001
NM_017617.5(NOTCH1):c.4428C>T (p.Gly1476=) rs765751888 0.00001
NM_017617.5(NOTCH1):c.4451A>G (p.Asn1484Ser) rs759828439 0.00001
NM_017617.5(NOTCH1):c.4472C>T (p.Thr1491Met) rs369915496 0.00001
NM_017617.5(NOTCH1):c.447C>T (p.Cys149=) rs1042034779 0.00001
NM_017617.5(NOTCH1):c.452A>G (p.Asn151Ser) rs766362765 0.00001
NM_017617.5(NOTCH1):c.453C>T (p.Asn151=) rs368733465 0.00001
NM_017617.5(NOTCH1):c.4564C>G (p.Gln1522Glu) rs537085062 0.00001
NM_017617.5(NOTCH1):c.4568G>A (p.Arg1523His) rs367589813 0.00001
NM_017617.5(NOTCH1):c.4571C>T (p.Ala1524Val) rs774374213 0.00001
NM_017617.5(NOTCH1):c.4587-9C>T rs1390687627 0.00001
NM_017617.5(NOTCH1):c.4588C>T (p.Pro1530Ser) rs750808945 0.00001
NM_017617.5(NOTCH1):c.4654G>A (p.Ala1552Thr) rs1438164851 0.00001
NM_017617.5(NOTCH1):c.4655C>T (p.Ala1552Val) rs748862853 0.00001
NM_017617.5(NOTCH1):c.4662C>T (p.Cys1554=) rs756662728 0.00001
NM_017617.5(NOTCH1):c.4663G>A (p.Glu1555Lys) rs746342893 0.00001
NM_017617.5(NOTCH1):c.4675C>T (p.Leu1559=) rs370713185 0.00001
NM_017617.5(NOTCH1):c.4686G>A (p.Ala1562=) rs1392196185 0.00001
NM_017617.5(NOTCH1):c.4709C>T (p.Ala1570Val) rs199860726 0.00001
NM_017617.5(NOTCH1):c.4710G>A (p.Ala1570=) rs773978978 0.00001
NM_017617.5(NOTCH1):c.4717A>G (p.Thr1573Ala) rs762492041 0.00001
NM_017617.5(NOTCH1):c.4719G>A (p.Thr1573=) rs775105774 0.00001
NM_017617.5(NOTCH1):c.4742C>T (p.Pro1581Leu) rs746431035 0.00001
NM_017617.5(NOTCH1):c.4743G>A (p.Pro1581=) rs781672648 0.00001
NM_017617.5(NOTCH1):c.4776C>T (p.Phe1592=) rs752861485 0.00001
NM_017617.5(NOTCH1):c.4810G>A (p.Val1604Met) rs763765573 0.00001
NM_017617.5(NOTCH1):c.4830A>G (p.Ala1610=) rs1322054624 0.00001
NM_017617.5(NOTCH1):c.4865G>A (p.Arg1622His) rs778271353 0.00001
NM_017617.5(NOTCH1):c.4880G>A (p.Arg1627His) rs946083212 0.00001
NM_017617.5(NOTCH1):c.4900G>A (p.Ala1634Thr) rs757260114 0.00001
NM_017617.5(NOTCH1):c.4906G>A (p.Glu1636Lys) rs764006572 0.00001
NM_017617.5(NOTCH1):c.4919C>T (p.Ala1640Val) rs1183355532 0.00001
NM_017617.5(NOTCH1):c.4952C>T (p.Ser1651Leu) rs1243453790 0.00001
NM_017617.5(NOTCH1):c.4959C>G (p.Leu1653=) rs773609261 0.00001
NM_017617.5(NOTCH1):c.4984C>T (p.Arg1662Trp) rs1456612268 0.00001
NM_017617.5(NOTCH1):c.499C>T (p.Pro167Ser) rs1439038323 0.00001
NM_017617.5(NOTCH1):c.5019-7C>T rs778742802 0.00001
NM_017617.5(NOTCH1):c.5049G>A (p.Arg1683=) rs749951491 0.00001
NM_017617.5(NOTCH1):c.505A>G (p.Ser169Gly) rs1394975333 0.00001
NM_017617.5(NOTCH1):c.5092G>A (p.Asp1698Asn) rs1417478070 0.00001
NM_017617.5(NOTCH1):c.5160C>T (p.Ala1720=) rs780625273 0.00001
NM_017617.5(NOTCH1):c.5168-15C>T rs1422578873 0.00001
NM_017617.5(NOTCH1):c.5168-5C>T rs757370134 0.00001
NM_017617.5(NOTCH1):c.5184G>A (p.Pro1728=) rs760548371 0.00001
NM_017617.5(NOTCH1):c.5187C>T (p.Pro1729=) rs1391812990 0.00001
NM_017617.5(NOTCH1):c.5214C>T (p.Tyr1738=) rs757538884 0.00001
NM_017617.5(NOTCH1):c.5222C>T (p.Ala1741Val) rs752754662 0.00001
NM_017617.5(NOTCH1):c.5234T>C (p.Val1745Ala) rs1843012616 0.00001
NM_017617.5(NOTCH1):c.5247C>T (p.Phe1749=) rs762483384 0.00001
NM_017617.5(NOTCH1):c.5271C>T (p.Ser1757=) rs747336695 0.00001
NM_017617.5(NOTCH1):c.5282G>A (p.Arg1761Gln) rs750318685 0.00001
NM_017617.5(NOTCH1):c.5284C>T (p.Arg1762Trp) rs1356199208 0.00001
NM_017617.5(NOTCH1):c.5344A>C (p.Lys1782Gln) rs1188095516 0.00001
NM_017617.5(NOTCH1):c.5350C>T (p.Arg1784Trp) rs1843010487 0.00001
NM_017617.5(NOTCH1):c.5365G>A (p.Glu1789Lys) rs1198855127 0.00001
NM_017617.5(NOTCH1):c.5374G>A (p.Val1792Met) rs771399165 0.00001
NM_017617.5(NOTCH1):c.5384+11G>A rs1340470620 0.00001
NM_017617.5(NOTCH1):c.5384+6C>T rs747363366 0.00001
NM_017617.5(NOTCH1):c.5385-13C>T rs1045447812 0.00001
NM_017617.5(NOTCH1):c.5397C>T (p.Asn1799=) rs761147379 0.00001
NM_017617.5(NOTCH1):c.5406C>T (p.Asp1802=) rs768810954 0.00001
NM_017617.5(NOTCH1):c.5413C>T (p.Leu1805Phe) rs775497405 0.00001
NM_017617.5(NOTCH1):c.541G>A (p.Glu181Lys) rs780209394 0.00001
NM_017617.5(NOTCH1):c.5452C>G (p.Leu1818Val) rs1064796983 0.00001
NM_017617.5(NOTCH1):c.5460C>T (p.Thr1820=) rs1176961989 0.00001
NM_017617.5(NOTCH1):c.5472+10G>A rs1484527670 0.00001
NM_017617.5(NOTCH1):c.5472+13G>C rs774075034 0.00001
NM_017617.5(NOTCH1):c.5472+18C>T rs199812169 0.00001
NM_017617.5(NOTCH1):c.5472+8G>A rs776640246 0.00001
NM_017617.5(NOTCH1):c.5473-10C>T rs1226558286 0.00001
NM_017617.5(NOTCH1):c.5473-8C>G rs1353579181 0.00001
NM_017617.5(NOTCH1):c.5484C>T (p.Pro1828=) rs1381340038 0.00001
NM_017617.5(NOTCH1):c.5492T>C (p.Leu1831Pro) rs1085307869 0.00001
NM_017617.5(NOTCH1):c.5495C>G (p.Pro1832Arg) rs1425070721 0.00001
NM_017617.5(NOTCH1):c.5505C>T (p.Asp1835=) rs760776152 0.00001
NM_017617.5(NOTCH1):c.5560C>T (p.Arg1854Cys) rs376689092 0.00001
NM_017617.5(NOTCH1):c.5568T>C (p.Ser1856=) rs535478432 0.00001
NM_017617.5(NOTCH1):c.5572A>C (p.Met1858Leu) rs779337715 0.00001
NM_017617.5(NOTCH1):c.5595T>A (p.Gly1865=) rs767493892 0.00001
NM_017617.5(NOTCH1):c.5608G>A (p.Asp1870Asn) rs1313068805 0.00001
NM_017617.5(NOTCH1):c.5619C>T (p.Asp1873=) rs770755811 0.00001
NM_017617.5(NOTCH1):c.5629C>T (p.Arg1877Cys) rs1446708596 0.00001
NM_017617.5(NOTCH1):c.5652G>A (p.Pro1884=) rs766279504 0.00001
NM_017617.5(NOTCH1):c.5674G>A (p.Gly1892Arg) rs761427888 0.00001
NM_017617.5(NOTCH1):c.5690C>T (p.Thr1897Met) rs746237272 0.00001
NM_017617.5(NOTCH1):c.5721G>A (p.Pro1907=) rs1020718980 0.00001
NM_017617.5(NOTCH1):c.5725G>A (p.Val1909Ile) rs751228412 0.00001
NM_017617.5(NOTCH1):c.5734G>A (p.Asp1912Asn) rs375978224 0.00001
NM_017617.5(NOTCH1):c.5784C>T (p.Gly1928=) rs773571672 0.00001
NM_017617.5(NOTCH1):c.5790C>T (p.Thr1930=) rs772372556 0.00001
NM_017617.5(NOTCH1):c.5793C>A (p.Ala1931=) rs569844183 0.00001
NM_017617.5(NOTCH1):c.5804C>T (p.Ala1935Val) rs374787627 0.00001
NM_017617.5(NOTCH1):c.5805C>T (p.Ala1935=) rs774693459 0.00001
NM_017617.5(NOTCH1):c.581C>T (p.Thr194Ile) rs760005580 0.00001
NM_017617.5(NOTCH1):c.5836C>T (p.Arg1946Cys) rs1440167765 0.00001
NM_017617.5(NOTCH1):c.5870A>C (p.Gln1957Pro) rs201174576 0.00001
NM_017617.5(NOTCH1):c.587A>G (p.His196Arg) rs1157720260 0.00001
NM_017617.5(NOTCH1):c.612C>T (p.Cys204=) rs1208829487 0.00001
NM_017617.5(NOTCH1):c.613G>A (p.Val205Ile) rs979299004 0.00001
NM_017617.5(NOTCH1):c.62-9C>T rs368106834 0.00001
NM_017617.5(NOTCH1):c.6204C>T (p.Ala2068=) rs767118276 0.00001
NM_017617.5(NOTCH1):c.6213G>A (p.Glu2071=) rs761295801 0.00001
NM_017617.5(NOTCH1):c.6223G>A (p.Glu2075Lys) rs549258808 0.00001
NM_017617.5(NOTCH1):c.6227C>T (p.Thr2076Ile) rs1022510242 0.00001
NM_017617.5(NOTCH1):c.622G>A (p.Ala208Thr) rs745817995 0.00001
NM_017617.5(NOTCH1):c.6237G>A (p.Val2079=) rs1246059704 0.00001
NM_017617.5(NOTCH1):c.6257A>G (p.Asn2086Ser) rs201058656 0.00001
NM_017617.5(NOTCH1):c.6259C>T (p.Arg2087Trp) rs373806373 0.00001
NM_017617.5(NOTCH1):c.6260G>A (p.Arg2087Gln) rs768543030 0.00001
NM_017617.5(NOTCH1):c.6265A>G (p.Ile2089Val) rs749262096 0.00001
NM_017617.5(NOTCH1):c.6293G>A (p.Arg2098His) rs759998676 0.00001
NM_017617.5(NOTCH1):c.6295G>A (p.Asp2099Asn) rs766745955 0.00001
NM_017617.5(NOTCH1):c.632C>G (p.Thr211Ser) rs1401319182 0.00001
NM_017617.5(NOTCH1):c.6343G>A (p.Glu2115Lys) rs777219891 0.00001
NM_017617.5(NOTCH1):c.6350A>C (p.Asn2117Thr) rs765820020 0.00001
NM_017617.5(NOTCH1):c.6358C>T (p.Arg2120Cys) rs375969725 0.00001
NM_017617.5(NOTCH1):c.6392G>A (p.Gly2131Asp) rs1842933513 0.00001
NM_017617.5(NOTCH1):c.6395C>T (p.Thr2132Met) rs777501680 0.00001
NM_017617.5(NOTCH1):c.6401C>T (p.Thr2134Ile) rs1249825304 0.00001
NM_017617.5(NOTCH1):c.6408G>A (p.Ser2136=) rs933773128 0.00001
NM_017617.5(NOTCH1):c.6413C>T (p.Pro2138Leu) rs756571156 0.00001
NM_017617.5(NOTCH1):c.6414G>A (p.Pro2138=) rs750732295 0.00001
NM_017617.5(NOTCH1):c.6422C>T (p.Ser2141Leu) rs767822693 0.00001
NM_017617.5(NOTCH1):c.6453C>T (p.Pro2151=) rs377302245 0.00001
NM_017617.5(NOTCH1):c.6456C>T (p.Gly2152=) rs368287903 0.00001
NM_017617.5(NOTCH1):c.6475C>T (p.Arg2159Cys) rs371742334 0.00001
NM_017617.5(NOTCH1):c.6476G>A (p.Arg2159His) rs1060502233 0.00001
NM_017617.5(NOTCH1):c.649C>T (p.Arg217Trp) rs757003332 0.00001
NM_017617.5(NOTCH1):c.6503G>A (p.Cys2168Tyr) rs1055326153 0.00001
NM_017617.5(NOTCH1):c.6536G>C (p.Arg2179Pro) rs587778571 0.00001
NM_017617.5(NOTCH1):c.6542A>G (p.Lys2181Arg) rs746372139 0.00001
NM_017617.5(NOTCH1):c.6564C>A (p.Gly2188=) rs747353119 0.00001
NM_017617.5(NOTCH1):c.6582C>T (p.Ser2194=) rs200853719 0.00001
NM_017617.5(NOTCH1):c.6593C>T (p.Ser2198Leu) rs761562076 0.00001
NM_017617.5(NOTCH1):c.6595C>T (p.Pro2199Ser) rs988164569 0.00001
NM_017617.5(NOTCH1):c.6637G>A (p.Val2213Met) rs376241938 0.00001
NM_017617.5(NOTCH1):c.6645G>A (p.Ser2215=) rs745339419 0.00001
NM_017617.5(NOTCH1):c.6680C>T (p.Pro2227Leu) rs751456570 0.00001
NM_017617.5(NOTCH1):c.6743A>C (p.Asn2248Thr) rs1554826464 0.00001
NM_017617.5(NOTCH1):c.6745G>A (p.Val2249Met) rs369457922 0.00001
NM_017617.5(NOTCH1):c.6748G>T (p.Ala2250Ser) rs1436539393 0.00001
NM_017617.5(NOTCH1):c.674C>G (p.Ser225Trp) rs553542677 0.00001
NM_017617.5(NOTCH1):c.6756G>A (p.Lys2252=) rs1842926814 0.00001
NM_017617.5(NOTCH1):c.6758C>T (p.Pro2253Leu) rs1204397173 0.00001
NM_017617.5(NOTCH1):c.6759C>T (p.Pro2253=) rs770738954 0.00001
NM_017617.5(NOTCH1):c.675G>A (p.Ser225=) rs1334701310 0.00001
NM_017617.5(NOTCH1):c.6768G>A (p.Ala2256=) rs575575412 0.00001
NM_017617.5(NOTCH1):c.6769G>A (p.Ala2257Thr) rs587778572 0.00001
NM_017617.5(NOTCH1):c.6781G>T (p.Gly2261Cys) rs768817065 0.00001
NM_017617.5(NOTCH1):c.6784G>A (p.Gly2262Ser) rs780071276 0.00001
NM_017617.5(NOTCH1):c.6787C>T (p.Arg2263Trp) rs770022692 0.00001
NM_017617.5(NOTCH1):c.6789G>C (p.Arg2263=) rs1367699274 0.00001
NM_017617.5(NOTCH1):c.678C>G (p.Pro226=) rs950648628 0.00001
NM_017617.5(NOTCH1):c.6812C>T (p.Pro2271Leu) rs1223321022 0.00001
NM_017617.5(NOTCH1):c.6868A>G (p.Ser2290Gly) rs1842924133 0.00001
NM_017617.5(NOTCH1):c.6871G>A (p.Gly2291Arg) rs367721906 0.00001
NM_017617.5(NOTCH1):c.687C>T (p.Asn229=) rs535217359 0.00001
NM_017617.5(NOTCH1):c.6889A>G (p.Thr2297Ala) rs748988550 0.00001
NM_017617.5(NOTCH1):c.6895G>A (p.Gly2299Ser) rs1020747496 0.00001
NM_017617.5(NOTCH1):c.6897C>T (p.Gly2299=) rs201643432 0.00001
NM_017617.5(NOTCH1):c.68G>C (p.Arg23Pro) rs869025260 0.00001
NM_017617.5(NOTCH1):c.6910T>G (p.Leu2304Val) rs749993527 0.00001
NM_017617.5(NOTCH1):c.6915T>C (p.Asn2305=) rs1223420495 0.00001
NM_017617.5(NOTCH1):c.6921A>G (p.Gln2307=) rs1361904973 0.00001
NM_017617.5(NOTCH1):c.6937C>T (p.Arg2313Trp) rs374453977 0.00001
NM_017617.5(NOTCH1):c.6949G>A (p.Gly2317Ser) rs747022065 0.00001
NM_017617.5(NOTCH1):c.6968A>G (p.Tyr2323Cys) rs779811889 0.00001
NM_017617.5(NOTCH1):c.6969C>T (p.Tyr2323=) rs755844275 0.00001
NM_017617.5(NOTCH1):c.6976C>T (p.Leu2326=) rs756811995 0.00001
NM_017617.5(NOTCH1):c.7033G>A (p.Gly2345Ser) rs1325758824 0.00001
NM_017617.5(NOTCH1):c.7046C>T (p.Pro2349Leu) rs540165156 0.00001
NM_017617.5(NOTCH1):c.7047G>A (p.Pro2349=) rs775336930 0.00001
NM_017617.5(NOTCH1):c.7075C>T (p.Leu2359=) rs374362224 0.00001
NM_017617.5(NOTCH1):c.707C>T (p.Thr236Met) rs537766290 0.00001
NM_017617.5(NOTCH1):c.7104G>A (p.Leu2368=) rs779525805 0.00001
NM_017617.5(NOTCH1):c.7114C>T (p.Arg2372Trp) rs754234580 0.00001
NM_017617.5(NOTCH1):c.7128G>T (p.Gln2376His) rs369935287 0.00001
NM_017617.5(NOTCH1):c.712G>A (p.Asp238Asn) rs550554578 0.00001
NM_017617.5(NOTCH1):c.7134C>T (p.His2378=) rs775424890 0.00001
NM_017617.5(NOTCH1):c.7138G>A (p.Val2380Met) rs769693988 0.00001
NM_017617.5(NOTCH1):c.714C>T (p.Asp238=) rs532058137 0.00001
NM_017617.5(NOTCH1):c.7150C>G (p.Gln2384Glu) rs375119074 0.00001
NM_017617.5(NOTCH1):c.7157A>G (p.Gln2386Arg) rs746658493 0.00001
NM_017617.5(NOTCH1):c.7161A>T (p.Pro2387=) rs1413339098 0.00001
NM_017617.5(NOTCH1):c.7172A>T (p.Gln2391Leu) rs1169052272 0.00001
NM_017617.5(NOTCH1):c.7188C>G (p.Asn2396Lys) rs1842917968 0.00001
NM_017617.5(NOTCH1):c.7189C>T (p.Leu2397=) rs374789141 0.00001
NM_017617.5(NOTCH1):c.7238C>T (p.Pro2413Leu) rs1842916834 0.00001
NM_017617.5(NOTCH1):c.7273G>A (p.Ala2425Thr) rs1364332299 0.00001
NM_017617.5(NOTCH1):c.7291C>T (p.Arg2431Trp) rs758410389 0.00001
NM_017617.5(NOTCH1):c.7315A>C (p.Ser2439Arg) rs942055234 0.00001
NM_017617.5(NOTCH1):c.7417G>A (p.Val2473Ile) rs1358523874 0.00001
NM_017617.5(NOTCH1):c.7430C>T (p.Thr2477Ile) rs1373474592 0.00001
NM_017617.5(NOTCH1):c.7472C>A (p.Ser2491Tyr) rs757165853 0.00001
NM_017617.5(NOTCH1):c.751G>A (p.Gly251Ser) rs755667439 0.00001
NM_017617.5(NOTCH1):c.752G>A (p.Gly251Asp) rs749943647 0.00001
NM_017617.5(NOTCH1):c.7539C>T (p.Ser2513=) rs758931699 0.00001
NM_017617.5(NOTCH1):c.7545G>T (p.Glu2515Asp) rs1365732147 0.00001
NM_017617.5(NOTCH1):c.7554C>T (p.Asp2518=) rs771410115 0.00001
NM_017617.5(NOTCH1):c.7568C>T (p.Ser2523Leu) rs1554826328 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.7631A>G (p.Gln2544Arg) rs764749582 0.00001
NM_017617.5(NOTCH1):c.7642G>A (p.Ala2548Thr) rs761156723 0.00001
NM_017617.5(NOTCH1):c.764A>G (p.Glu255Gly) rs1186718194 0.00001
NM_017617.5(NOTCH1):c.7667A>G (p.Ter2556=) rs190691338 0.00001
NM_017617.5(NOTCH1):c.79C>A (p.Pro27Thr) rs769784635 0.00001
NM_017617.5(NOTCH1):c.822C>T (p.Asp274=) rs775275739 0.00001
NM_017617.5(NOTCH1):c.826G>A (p.Val276Met) rs369721921 0.00001
NM_017617.5(NOTCH1):c.865+19G>A rs775120395 0.00001
NM_017617.5(NOTCH1):c.865+5G>A rs1307085130 0.00001
NM_017617.5(NOTCH1):c.866-3C>T rs950602055 0.00001
NM_017617.5(NOTCH1):c.866-7C>T rs368001435 0.00001
NM_017617.5(NOTCH1):c.949G>A (p.Gly317Ser) rs749696049 0.00001
NM_017617.5(NOTCH1):c.94C>T (p.Leu32=) rs367858719 0.00001
NC_000009.11:g.(?_139390513)_(139440248_?)dup
NC_000009.11:g.(?_139390523)_(139438574_?)dup
NC_000009.11:g.(?_139404165)_(139405277_?)del
NC_000009.11:g.(?_139438456)_(139440238_?)dup
NC_000009.12:g.(?_136496051)_(136523999_?)del
NC_000009.12:g.(?_136496061)_(136523989_?)del
NC_000009.12:g.(?_136496071)_(136523980_?)del
NM_017617.5(NOTCH1):c.1005C>A (p.Asn335Lys)
NM_017617.5(NOTCH1):c.1014C>T (p.Asp338=)
NM_017617.5(NOTCH1):c.1017T>G (p.Cys339Trp)
NM_017617.5(NOTCH1):c.1017_1018del (p.Ala340fs) rs1843317673
NM_017617.5(NOTCH1):c.1018G>A (p.Ala340Thr)
NM_017617.5(NOTCH1):c.1027G>A (p.Ala343Thr) rs1843317533
NM_017617.5(NOTCH1):c.103G>A (p.Gly35Arg) rs1843774247
NM_017617.5(NOTCH1):c.1045A>C (p.Thr349Pro) rs200520088
NM_017617.5(NOTCH1):c.1047C>T (p.Thr349=)
NM_017617.5(NOTCH1):c.1058G>A (p.Arg353His)
NM_017617.5(NOTCH1):c.1059T>C (p.Arg353=)
NM_017617.5(NOTCH1):c.105G>C (p.Gly35=)
NM_017617.5(NOTCH1):c.1062G>C (p.Val354=)
NM_017617.5(NOTCH1):c.1067C>T (p.Ser356Phe) rs1843316270
NM_017617.5(NOTCH1):c.1068C>T (p.Ser356=)
NM_017617.5(NOTCH1):c.1070T>C (p.Phe357Ser) rs1843316172
NM_017617.5(NOTCH1):c.1078G>A (p.Glu360Lys)
NM_017617.5(NOTCH1):c.1081T>C (p.Cys361Arg) rs1843315932
NM_017617.5(NOTCH1):c.1093C>T (p.Arg365Cys) rs1064795070
NM_017617.5(NOTCH1):c.1099+1G>T
NM_017617.5(NOTCH1):c.1100-16G>A rs146815871
NM_017617.5(NOTCH1):c.1100-17C>T rs373481386
NM_017617.5(NOTCH1):c.1100-4C>T rs1297218175
NM_017617.5(NOTCH1):c.1105C>T (p.Leu369=)
NM_017617.5(NOTCH1):c.1109G>A (p.Cys370Tyr) rs1564199987
NM_017617.5(NOTCH1):c.1110C>T (p.Cys370=)
NM_017617.5(NOTCH1):c.1116_1118delinsAC (p.Asn373fs) rs2133369937
NM_017617.5(NOTCH1):c.1119C>T (p.Asn373=)
NM_017617.5(NOTCH1):c.1125A>C (p.Ala375=) rs371954544
NM_017617.5(NOTCH1):c.1196C>A (p.Thr399Asn)
NM_017617.5(NOTCH1):c.1218C>G (p.Gly406=)
NM_017617.5(NOTCH1):c.1220C>G (p.Pro407Arg) rs754529382
NM_017617.5(NOTCH1):c.1239G>A (p.Val413=)
NM_017617.5(NOTCH1):c.1242T>G (p.Asp414Glu) rs1843307597
NM_017617.5(NOTCH1):c.1251G>C (p.Ser417=)
NM_017617.5(NOTCH1):c.1255+10dup
NM_017617.5(NOTCH1):c.1255+13dup
NM_017617.5(NOTCH1):c.1255+14C>T
NM_017617.5(NOTCH1):c.1255+19G>A
NM_017617.5(NOTCH1):c.1255+19G>T
NM_017617.5(NOTCH1):c.1255+20G>T
NM_017617.5(NOTCH1):c.1256-10C>T
NM_017617.5(NOTCH1):c.1256-13G>T
NM_017617.5(NOTCH1):c.1256-15G>T
NM_017617.5(NOTCH1):c.1256-16C>T
NM_017617.5(NOTCH1):c.1256-8C>G rs1052776009
NM_017617.5(NOTCH1):c.1256-9C>G rs1401233481
NM_017617.5(NOTCH1):c.1256-9C>T
NM_017617.5(NOTCH1):c.1266C>A (p.Pro422=) rs762533002
NM_017617.5(NOTCH1):c.1277C>G (p.Ala426Gly) rs528033027
NM_017617.5(NOTCH1):c.1277C>T (p.Ala426Val)
NM_017617.5(NOTCH1):c.1284G>A (p.Lys428=) rs1466608110
NM_017617.5(NOTCH1):c.1285T>C (p.Cys429Arg) rs587777736
NM_017617.5(NOTCH1):c.1295C>G (p.Thr432Arg) rs200562991
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.1347C>T (p.Cys449=)
NM_017617.5(NOTCH1):c.1350G>A (p.Glu450=)
NM_017617.5(NOTCH1):c.1353C>T (p.Ile451=)
NM_017617.5(NOTCH1):c.1363G>A (p.Glu455Lys)
NM_017617.5(NOTCH1):c.1367G>A (p.Cys456Tyr) rs864622058
NM_017617.5(NOTCH1):c.1369G>T (p.Val457Phe)
NM_017617.5(NOTCH1):c.1371C>T (p.Val457=) rs1463940681
NM_017617.5(NOTCH1):c.1373C>T (p.Ser458Leu)
NM_017617.5(NOTCH1):c.1374G>A (p.Ser458=) rs886039016
NM_017617.5(NOTCH1):c.1379C>T (p.Pro460Leu)
NM_017617.5(NOTCH1):c.1385A>G (p.Gln462Arg)
NM_017617.5(NOTCH1):c.1386G>A (p.Gln462=) rs2133368484
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+11C>A
NM_017617.5(NOTCH1):c.140+14C>T
NM_017617.5(NOTCH1):c.140+15T>G
NM_017617.5(NOTCH1):c.140+20del rs751297042
NM_017617.5(NOTCH1):c.140+9C>G
NM_017617.5(NOTCH1):c.142T>A (p.Cys48Ser)
NM_017617.5(NOTCH1):c.1440C>A (p.Pro480=) rs61751555
NM_017617.5(NOTCH1):c.1441+11C>A rs376506127
NM_017617.5(NOTCH1):c.1441+11C>T rs376506127
NM_017617.5(NOTCH1):c.1441+11del
NM_017617.5(NOTCH1):c.1441G>C (p.Gly481Arg) rs1448146225
NM_017617.5(NOTCH1):c.1442-12C>T rs1241878638
NM_017617.5(NOTCH1):c.1442-17_1442-16del
NM_017617.5(NOTCH1):c.1442-3C>T rs1589067790
NM_017617.5(NOTCH1):c.1442G>T (p.Gly481Val) rs2133367544
NM_017617.5(NOTCH1):c.1467C>G (p.Val489=)
NM_017617.5(NOTCH1):c.1474G>A (p.Asp492Asn)
NM_017617.5(NOTCH1):c.1477G>A (p.Glu493Lys) rs1554729862
NM_017617.5(NOTCH1):c.1477G>C (p.Glu493Gln)
NM_017617.5(NOTCH1):c.1483G>A (p.Ala495Thr)
NM_017617.5(NOTCH1):c.1483_1484delinsAA (p.Ala495Asn)
NM_017617.5(NOTCH1):c.1487G>C (p.Ser496Thr) rs2133367463
NM_017617.5(NOTCH1):c.1496G>T (p.Cys499Phe) rs1843292131
NM_017617.5(NOTCH1):c.1514G>A (p.Cys505Tyr) rs1060502240
NM_017617.5(NOTCH1):c.1522A>G (p.Lys508Glu)
NM_017617.5(NOTCH1):c.1527C>G (p.Ile509Met)
NM_017617.5(NOTCH1):c.1527C>T (p.Ile509=) rs2133367383
NM_017617.5(NOTCH1):c.1528A>G (p.Asn510Asp)
NM_017617.5(NOTCH1):c.1530T>C (p.Asn510=)
NM_017617.5(NOTCH1):c.1537C>T (p.Gln513Ter)
NM_017617.5(NOTCH1):c.1539G>C (p.Gln513His) rs747069934
NM_017617.5(NOTCH1):c.1542C>A (p.Cys514Ter) rs779058908
NM_017617.5(NOTCH1):c.1543G>A (p.Glu515Lys) rs749085650
NM_017617.5(NOTCH1):c.1551C>A (p.Pro517=)
NM_017617.5(NOTCH1):c.1555+11C>T
NM_017617.5(NOTCH1):c.1555+13C>G
NM_017617.5(NOTCH1):c.1555+17C>T rs760877301
NM_017617.5(NOTCH1):c.1555+5G>A
NM_017617.5(NOTCH1):c.1555+6G>A
NM_017617.5(NOTCH1):c.1556-17C>A
NM_017617.5(NOTCH1):c.1556-19C>T rs970722201
NM_017617.5(NOTCH1):c.1556-20C>G rs1268079353
NM_017617.5(NOTCH1):c.1556-23TCCCC[2]
NM_017617.5(NOTCH1):c.1556-23TCCCC[4] rs747100045
NM_017617.5(NOTCH1):c.1556-23_1556-20del
NM_017617.5(NOTCH1):c.1556-4C>T rs2133365542
NM_017617.5(NOTCH1):c.1556-8G>T rs776434236
NM_017617.5(NOTCH1):c.1567C>T (p.His523Tyr) rs572103199
NM_017617.5(NOTCH1):c.1577A>G (p.Gln526Arg)
NM_017617.5(NOTCH1):c.1591G>A (p.Glu531Lys)
NM_017617.5(NOTCH1):c.1599C>A (p.Ala533=) rs1304388033
NM_017617.5(NOTCH1):c.1601G>A (p.Ser534Asn)
NM_017617.5(NOTCH1):c.1618G>C (p.Gly540Arg)
NM_017617.5(NOTCH1):c.1627_1669+11del
NM_017617.5(NOTCH1):c.1648T>C (p.Tyr550His)
NM_017617.5(NOTCH1):c.1649dup (p.Tyr550Ter) rs864622059
NM_017617.5(NOTCH1):c.164C>T (p.Pro55Leu)
NM_017617.5(NOTCH1):c.1652C>T (p.Thr551Ile)
NM_017617.5(NOTCH1):c.1661G>A (p.Cys554Tyr) rs2133365061
NM_017617.5(NOTCH1):c.1669+3G>A
NM_017617.5(NOTCH1):c.1669+4C>A rs1227337588
NM_017617.5(NOTCH1):c.1669+4C>T
NM_017617.5(NOTCH1):c.1669+9_1669+10inv
NM_017617.5(NOTCH1):c.1670-10_1670-9inv
NM_017617.5(NOTCH1):c.1670-11C>T
NM_017617.5(NOTCH1):c.1670-7G>A
NM_017617.5(NOTCH1):c.1679G>A (p.Gly560Glu)
NM_017617.5(NOTCH1):c.167G>A (p.Arg56Gln)
NM_017617.5(NOTCH1):c.1684C>T (p.His562Tyr)
NM_017617.5(NOTCH1):c.168A>G (p.Arg56=)
NM_017617.5(NOTCH1):c.1698C>G (p.Asp566Glu)
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.170G>A (p.Cys57Tyr)
NM_017617.5(NOTCH1):c.1711G>A (p.Asp571Asn) rs373125283
NM_017617.5(NOTCH1):c.1713C>T (p.Asp571=)
NM_017617.5(NOTCH1):c.1715C>A (p.Pro572His)
NM_017617.5(NOTCH1):c.1719C>T (p.Asp573=)
NM_017617.5(NOTCH1):c.1740C>T (p.Cys580=)
NM_017617.5(NOTCH1):c.1741A>G (p.Lys581Glu) rs778992111
NM_017617.5(NOTCH1):c.1746C>T (p.Asp582=)
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.1755C>T (p.Ala585=)
NM_017617.5(NOTCH1):c.1756A>C (p.Thr586Pro) rs764854903
NM_017617.5(NOTCH1):c.1756A>G (p.Thr586Ala) rs764854903
NM_017617.5(NOTCH1):c.1757C>T (p.Thr586Ile) rs1843254040
NM_017617.5(NOTCH1):c.1760T>C (p.Phe587Ser) rs771440130
NM_017617.5(NOTCH1):c.1762A>C (p.Thr588Pro) rs747384159
NM_017617.5(NOTCH1):c.1768C>T (p.Leu590Phe)
NM_017617.5(NOTCH1):c.1769T>G (p.Leu590Arg)
NM_017617.5(NOTCH1):c.1770C>G (p.Leu590=) rs949220276
NM_017617.5(NOTCH1):c.1784_1787del (p.Tyr595fs) rs2133363840
NM_017617.5(NOTCH1):c.178C>A (p.Pro60Thr)
NM_017617.5(NOTCH1):c.1792C>T (p.His598Tyr) rs1589066307
NM_017617.5(NOTCH1):c.1794C>T (p.His598=) rs1261287469
NM_017617.5(NOTCH1):c.1797C>A (p.His599Gln)
NM_017617.5(NOTCH1):c.1799G>T (p.Cys600Phe) rs1843252800
NM_017617.5(NOTCH1):c.1800_1801dup (p.Glu601fs) rs1843252720
NM_017617.5(NOTCH1):c.1809C>T (p.Asn603=)
NM_017617.5(NOTCH1):c.1815C>G (p.Asn605Lys) rs781029850
NM_017617.5(NOTCH1):c.1821C>T (p.Cys607=)
NM_017617.5(NOTCH1):c.1830G>A (p.Gln610=) rs2133363599
NM_017617.5(NOTCH1):c.1848C>A (p.Gly616=)
NM_017617.5(NOTCH1):c.1851C>T (p.Thr617=) rs761199261
NM_017617.5(NOTCH1):c.1854C>T (p.Cys618=)
NM_017617.5(NOTCH1):c.1857G>A (p.Gln619=)
NM_017617.5(NOTCH1):c.1861C>G (p.Arg621Gly) rs774622686
NM_017617.5(NOTCH1):c.186G>A (p.Pro62=) rs374320445
NM_017617.5(NOTCH1):c.1871C>G (p.Ala624Gly)
NM_017617.5(NOTCH1):c.1888C>G (p.Leu630Val) rs2133363294
NM_017617.5(NOTCH1):c.1892A>G (p.Lys631Arg)
NM_017617.5(NOTCH1):c.1894G>A (p.Gly632Arg) rs2133363267
NM_017617.5(NOTCH1):c.1896_1897delinsTG (p.Thr633Ala) rs1843250416
NM_017617.5(NOTCH1):c.1899C>G (p.Thr633=)
NM_017617.5(NOTCH1):c.1903+14C>G
NM_017617.5(NOTCH1):c.1903+15G>A
NM_017617.5(NOTCH1):c.1903+6C>G
NM_017617.5(NOTCH1):c.1903+7G>A rs760116150
NM_017617.5(NOTCH1):c.1903+7G>T rs760116150
NM_017617.5(NOTCH1):c.1904-15G>A
NM_017617.5(NOTCH1):c.1904-16C>A
NM_017617.5(NOTCH1):c.1904-16C>T rs775848413
NM_017617.5(NOTCH1):c.1904-17A>C
NM_017617.5(NOTCH1):c.1904-20G>A
NM_017617.5(NOTCH1):c.1904-20G>C
NM_017617.5(NOTCH1):c.1904-3C>T rs748118679
NM_017617.5(NOTCH1):c.1904-9C>T rs2133362915
NM_017617.5(NOTCH1):c.1906C>T (p.Pro636Ser)
NM_017617.5(NOTCH1):c.1915G>A (p.Glu639Lys)
NM_017617.5(NOTCH1):c.1923C>T (p.Asn641=)
NM_017617.5(NOTCH1):c.1935_1936del (p.Ala646fs) rs1554729443
NM_017617.5(NOTCH1):c.1936G>A (p.Ala646Thr)
NM_017617.5(NOTCH1):c.1945C>T (p.Pro649Ser)
NM_017617.5(NOTCH1):c.1959C>A (p.Gly653=) rs776402525
NM_017617.5(NOTCH1):c.1961C>T (p.Thr654Ile) rs765651994
NM_017617.5(NOTCH1):c.1966C>T (p.Leu656=) rs776930100
NM_017617.5(NOTCH1):c.1971C>T (p.Asp657=) rs1843246881
NM_017617.5(NOTCH1):c.1977C>T (p.Ile659=) rs766577980
NM_017617.5(NOTCH1):c.1978G>A (p.Asp660Asn) rs368996332
NM_017617.5(NOTCH1):c.1988A>G (p.Glu663Gly)
NM_017617.5(NOTCH1):c.199C>T (p.Pro67Ser)
NM_017617.5(NOTCH1):c.2004G>A (p.Pro668=)
NM_017617.5(NOTCH1):c.200C>T (p.Pro67Leu)
NM_017617.5(NOTCH1):c.2012C>A (p.Thr671Lys) rs2133362310
NM_017617.5(NOTCH1):c.2012C>T (p.Thr671Ile)
NM_017617.5(NOTCH1):c.2014+10C>A rs1589065951
NM_017617.5(NOTCH1):c.2014+10C>T
NM_017617.5(NOTCH1):c.2014+11C>T rs1348123089
NM_017617.5(NOTCH1):c.2014+17G>A
NM_017617.5(NOTCH1):c.2014+17G>T
NM_017617.5(NOTCH1):c.2014+8G>A
NM_017617.5(NOTCH1):c.2015-10C>T
NM_017617.5(NOTCH1):c.2015-11C>T
NM_017617.5(NOTCH1):c.2015-13G>C rs772867940
NM_017617.5(NOTCH1):c.2015-2A>G
NM_017617.5(NOTCH1):c.2015-2del rs2133361331
NM_017617.5(NOTCH1):c.201C>A (p.Pro67=) rs764636339
NM_017617.5(NOTCH1):c.2026A>T (p.Asn676Tyr)
NM_017617.5(NOTCH1):c.2033A>G (p.Asn678Ser)
NM_017617.5(NOTCH1):c.2039A>G (p.Asp680Gly) rs2133361218
NM_017617.5(NOTCH1):c.2041G>A (p.Glu681Lys)
NM_017617.5(NOTCH1):c.2046T>C (p.Cys682=)
NM_017617.5(NOTCH1):c.2051G>C (p.Gly684Ala)
NM_017617.5(NOTCH1):c.2053A>T (p.Asn685Tyr)
NM_017617.5(NOTCH1):c.2054A>G (p.Asn685Ser)
NM_017617.5(NOTCH1):c.2056C>T (p.Pro686Ser)
NM_017617.5(NOTCH1):c.2066A>G (p.Asn689Ser)
NM_017617.5(NOTCH1):c.2103C>A (p.Thr701=)
NM_017617.5(NOTCH1):c.2103C>G (p.Thr701=)
NM_017617.5(NOTCH1):c.2118G>A (p.Glu706=)
NM_017617.5(NOTCH1):c.2125C>A (p.His709Asn) rs2133360792
NM_017617.5(NOTCH1):c.2148G>C (p.Glu716Asp) rs376468003
NM_017617.5(NOTCH1):c.214G>A (p.Gly72Arg)
NM_017617.5(NOTCH1):c.2153A>G (p.Asn718Ser) rs1843232044
NM_017617.5(NOTCH1):c.2157G>A (p.Glu719=)
NM_017617.5(NOTCH1):c.2169C>T (p.Asn723=)
NM_017617.5(NOTCH1):c.2172C>G (p.Pro724=)
NM_017617.5(NOTCH1):c.2176G>A (p.Val726Ile)
NM_017617.5(NOTCH1):c.2181C>T (p.His727=)
NM_017617.5(NOTCH1):c.2185G>A (p.Ala729Thr) rs1400821402
NM_017617.5(NOTCH1):c.2185G>T (p.Ala729Ser)
NM_017617.5(NOTCH1):c.2186C>T (p.Ala729Val) rs1843231402
NM_017617.5(NOTCH1):c.2207+19C>G
NM_017617.5(NOTCH1):c.2208-10C>T
NM_017617.5(NOTCH1):c.2208-11C>G
NM_017617.5(NOTCH1):c.2208-14G>C
NM_017617.5(NOTCH1):c.2210A>T (p.Tyr737Phe)
NM_017617.5(NOTCH1):c.2218G>T (p.Asp740Tyr)
NM_017617.5(NOTCH1):c.2220C>A (p.Asp740Glu)
NM_017617.5(NOTCH1):c.2226C>G (p.Asp742Glu) rs201889382
NM_017617.5(NOTCH1):c.2243C>A (p.Thr748Asn) rs1284149123
NM_017617.5(NOTCH1):c.2257A>C (p.Asn753His)
NM_017617.5(NOTCH1):c.2280C>A (p.Asn760Lys)
NM_017617.5(NOTCH1):c.2291A>G (p.Asn764Ser) rs1454630791
NM_017617.5(NOTCH1):c.2293G>A (p.Gly765Ser) rs993388875
NM_017617.5(NOTCH1):c.2296G>A (p.Gly766Ser)
NM_017617.5(NOTCH1):c.2296G>C (p.Gly766Arg)
NM_017617.5(NOTCH1):c.2314A>C (p.Thr772Pro)
NM_017617.5(NOTCH1):c.2315C>A (p.Thr772Asn)
NM_017617.5(NOTCH1):c.2318G>A (p.Ser773Asn)
NM_017617.5(NOTCH1):c.2318G>C (p.Ser773Thr) rs758073507
NM_017617.5(NOTCH1):c.2318G>T (p.Ser773Ile)
NM_017617.5(NOTCH1):c.2319_2354-74del rs2133358321
NM_017617.5(NOTCH1):c.2326G>T (p.Val776Leu) rs377286829
NM_017617.5(NOTCH1):c.2326_2328del (p.Val776del)
NM_017617.5(NOTCH1):c.2328G>A (p.Val776=)
NM_017617.5(NOTCH1):c.232G>A (p.Asp78Asn)
NM_017617.5(NOTCH1):c.2333C>T (p.Thr778Ile)
NM_017617.5(NOTCH1):c.2334C>T (p.Thr778=) rs1246624794
NM_017617.5(NOTCH1):c.2336G>C (p.Cys779Ser)
NM_017617.5(NOTCH1):c.2338C>T (p.Arg780Trp) rs756642176
NM_017617.5(NOTCH1):c.2346C>A (p.Gly782=)
NM_017617.5(NOTCH1):c.2351G>C (p.Ser784Thr)
NM_017617.5(NOTCH1):c.2353+11T>A
NM_017617.5(NOTCH1):c.2353+16G>A
NM_017617.5(NOTCH1):c.2353+20C>G
NM_017617.5(NOTCH1):c.2354-16G>A
NM_017617.5(NOTCH1):c.2354-8C>T rs779665060
NM_017617.5(NOTCH1):c.2354-9T>C
NM_017617.5(NOTCH1):c.2359A>C (p.Asn787His)
NM_017617.5(NOTCH1):c.2365C>T (p.Gln789Ter) rs1554729118
NM_017617.5(NOTCH1):c.2369C>T (p.Thr790Ile)
NM_017617.5(NOTCH1):c.236G>A (p.Arg79His) rs768517628
NM_017617.5(NOTCH1):c.2372A>G (p.Asn791Ser) rs2133358146
NM_017617.5(NOTCH1):c.2377_2379del (p.Asn793del) rs587778561
NM_017617.5(NOTCH1):c.2378A>T (p.Asn793Ile)
NM_017617.5(NOTCH1):c.2379C>G (p.Asn793Lys)
NM_017617.5(NOTCH1):c.2380G>T (p.Glu794Ter) rs1554729113
NM_017617.5(NOTCH1):c.2387C>T (p.Ala796Val)
NM_017617.5(NOTCH1):c.2405A>G (p.Asn802Ser) rs2133358091
NM_017617.5(NOTCH1):c.240A>G (p.Arg80=)
NM_017617.5(NOTCH1):c.2410G>C (p.Gly804Arg)
NM_017617.5(NOTCH1):c.2414C>T (p.Thr805Met)
NM_017617.5(NOTCH1):c.2415G>A (p.Thr805=) rs774284462
NM_017617.5(NOTCH1):c.2415G>C (p.Thr805=) rs774284462
NM_017617.5(NOTCH1):c.2415G>T (p.Thr805=)
NM_017617.5(NOTCH1):c.2416T>A (p.Cys806Ser) rs1805487567
NM_017617.5(NOTCH1):c.2420T>C (p.Ile807Thr) rs1265223880
NM_017617.5(NOTCH1):c.2424C>T (p.Asp808=)
NM_017617.5(NOTCH1):c.2428G>C (p.Val810Leu) rs948647691
NM_017617.5(NOTCH1):c.242G>T (p.Gly81Val)
NM_017617.5(NOTCH1):c.2435G>C (p.Gly812Ala) rs1843208318
NM_017617.5(NOTCH1):c.2439C>T (p.Tyr813=) rs1057515422
NM_017617.5(NOTCH1):c.2446A>G (p.Asn816Asp) rs1589064290
NM_017617.5(NOTCH1):c.2447A>G (p.Asn816Ser)
NM_017617.5(NOTCH1):c.2448C>T (p.Asn816=) rs1422745093
NM_017617.5(NOTCH1):c.2448dup (p.Cys817fs) rs1589064285
NM_017617.5(NOTCH1):c.244G>T (p.Val82Leu) rs571831870
NM_017617.5(NOTCH1):c.2452C>G (p.Leu818Val) rs199841979
NM_017617.5(NOTCH1):c.2460C>G (p.Pro820=)
NM_017617.5(NOTCH1):c.2466A>G (p.Thr822=)
NM_017617.5(NOTCH1):c.2467+17dup
NM_017617.5(NOTCH1):c.2467+7G>T rs1843207149
NM_017617.5(NOTCH1):c.2468-10C>T rs2133355112
NM_017617.5(NOTCH1):c.2468-5C>A rs932196144
NM_017617.5(NOTCH1):c.2468-5C>T
NM_017617.5(NOTCH1):c.2468-6C>G
NM_017617.5(NOTCH1):c.2475G>A (p.Thr825=) rs766045141
NM_017617.5(NOTCH1):c.2479G>A (p.Glu827Lys) rs760376139
NM_017617.5(NOTCH1):c.2481G>A (p.Glu827=)
NM_017617.5(NOTCH1):c.2491G>A (p.Ala831Thr)
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.2501C>G (p.Ala834Gly) rs202144877
NM_017617.5(NOTCH1):c.2504_2506del (p.Pro835_Ser836delinsArg)
NM_017617.5(NOTCH1):c.2509C>T (p.Pro837Ser) rs1843176956
NM_017617.5(NOTCH1):c.2514C>T (p.Cys838=) rs1554728839
NM_017617.5(NOTCH1):c.2520CGG[1] (p.Gly842del) rs754554370
NM_017617.5(NOTCH1):c.2521G>C (p.Gly841Arg)
NM_017617.5(NOTCH1):c.2526G>A (p.Gly842=)
NM_017617.5(NOTCH1):c.2527G>A (p.Glu843Lys) rs750170645
NM_017617.5(NOTCH1):c.2529G>A (p.Glu843=) rs1191070636
NM_017617.5(NOTCH1):c.2538A>G (p.Gln846=)
NM_017617.5(NOTCH1):c.2540C>G (p.Ser847Cys)
NM_017617.5(NOTCH1):c.254A>G (p.Tyr85Cys)
NM_017617.5(NOTCH1):c.2558T>G (p.Phe853Cys) rs1843175664
NM_017617.5(NOTCH1):c.2558_2560del (p.Phe853del) rs779164170
NM_017617.5(NOTCH1):c.256G>T (p.Ala86Ser) rs373941045
NM_017617.5(NOTCH1):c.2574C>T (p.Pro858=) rs1589063028
NM_017617.5(NOTCH1):c.2580C>T (p.Gly860=) rs761604720
NM_017617.5(NOTCH1):c.2587+19C>G rs577190264
NM_017617.5(NOTCH1):c.2587+19C>T
NM_017617.5(NOTCH1):c.2587+1G>T
NM_017617.5(NOTCH1):c.2588-11C>G
NM_017617.5(NOTCH1):c.2588-17del
NM_017617.5(NOTCH1):c.2588-20G>A rs371359766
NM_017617.5(NOTCH1):c.2588-20G>C
NM_017617.5(NOTCH1):c.2588-7C>T
NM_017617.5(NOTCH1):c.258C>G (p.Ala86=)
NM_017617.5(NOTCH1):c.2594C>T (p.Thr865Ile)
NM_017617.5(NOTCH1):c.2595C>T (p.Thr865=)
NM_017617.5(NOTCH1):c.260G>A (p.Cys87Tyr)
NM_017617.5(NOTCH1):c.2613C>G (p.Asn871Lys)
NM_017617.5(NOTCH1):c.2619C>T (p.Cys873=)
NM_017617.5(NOTCH1):c.2623C>A (p.Leu875Met)
NM_017617.5(NOTCH1):c.262A>G (p.Ser88Gly)
NM_017617.5(NOTCH1):c.2631G>C (p.Pro877=)
NM_017617.5(NOTCH1):c.2636G>T (p.Arg879Leu) rs368011392
NM_017617.5(NOTCH1):c.2655G>C (p.Gln885His) rs2133353313
NM_017617.5(NOTCH1):c.2661C>T (p.Thr887=)
NM_017617.5(NOTCH1):c.2666G>T (p.Gly889Val) rs1554728783
NM_017617.5(NOTCH1):c.2670C>T (p.Gly890=)
NM_017617.5(NOTCH1):c.2673C>T (p.Tyr891=)
NM_017617.5(NOTCH1):c.2677T>C (p.Cys893Arg)
NM_017617.5(NOTCH1):c.2677T>G (p.Cys893Gly)
NM_017617.5(NOTCH1):c.2679C>T (p.Cys893=) rs373306460
NM_017617.5(NOTCH1):c.2685C>T (p.Cys895=) rs2133353146
NM_017617.5(NOTCH1):c.2689G>A (p.Ala897Thr) rs2133353126
NM_017617.5(NOTCH1):c.2699G>A (p.Ser900Asn) rs1589062647
NM_017617.5(NOTCH1):c.269_270delinsTG (p.Ala90Val) rs1554730737
NM_017617.5(NOTCH1):c.2702G>A (p.Gly901Glu)
NM_017617.5(NOTCH1):c.2705G>A (p.Arg902His) rs373075482
NM_017617.5(NOTCH1):c.2710T>C (p.Cys904Arg) rs1843166003
NM_017617.5(NOTCH1):c.2717C>T (p.Thr906Ile) rs2133352988
NM_017617.5(NOTCH1):c.271C>T (p.Leu91=)
NM_017617.5(NOTCH1):c.272T>C (p.Leu91Pro)
NM_017617.5(NOTCH1):c.2740+12C>A
NM_017617.5(NOTCH1):c.2740+12C>G
NM_017617.5(NOTCH1):c.2740+13G>A
NM_017617.5(NOTCH1):c.2740+15G>A
NM_017617.5(NOTCH1):c.2740+16del
NM_017617.5(NOTCH1):c.2740+17C>T
NM_017617.5(NOTCH1):c.2740+18T>C
NM_017617.5(NOTCH1):c.2741-12G>C
NM_017617.5(NOTCH1):c.2741-17C>T
NM_017617.5(NOTCH1):c.2741-6T>A rs2133351503
NM_017617.5(NOTCH1):c.2741-7C>T
NM_017617.5(NOTCH1):c.2743C>G (p.Pro915Ala) rs878855024
NM_017617.5(NOTCH1):c.2757G>A (p.Gly919=) rs1843152166
NM_017617.5(NOTCH1):c.2759G>A (p.Gly920Asp)
NM_017617.5(NOTCH1):c.2759dup (p.Ser921fs)
NM_017617.5(NOTCH1):c.2768C>T (p.Thr923Ile)
NM_017617.5(NOTCH1):c.277T>G (p.Phe93Val)
NM_017617.5(NOTCH1):c.2786C>A (p.Ala929Asp) rs1218875928
NM_017617.5(NOTCH1):c.2793C>T (p.Cys931=) rs557156741
NM_017617.5(NOTCH1):c.2794G>A (p.Asp932Asn)
NM_017617.5(NOTCH1):c.2802G>A (p.Leu934=)
NM_017617.5(NOTCH1):c.2806G>C (p.Gly936Arg)
NM_017617.5(NOTCH1):c.2811C>T (p.Phe937=) rs2133351104
NM_017617.5(NOTCH1):c.2834A>T (p.Asp945Val)
NM_017617.5(NOTCH1):c.2839_2841del (p.Asn947del)
NM_017617.5(NOTCH1):c.2841C>T (p.Asn947=)
NM_017617.5(NOTCH1):c.2842G>T (p.Glu948Ter)
NM_017617.5(NOTCH1):c.2844G>A (p.Glu948=) rs2133350962
NM_017617.5(NOTCH1):c.2849C>T (p.Ala950Val) rs777658333
NM_017617.5(NOTCH1):c.2851A>G (p.Ser951Gly) rs1843150410
NM_017617.5(NOTCH1):c.2854G>C (p.Asp952His)
NM_017617.5(NOTCH1):c.2859C>T (p.Pro953=) rs2133350864
NM_017617.5(NOTCH1):c.2864G>A (p.Arg955His) rs557049479
NM_017617.5(NOTCH1):c.2868C>A (p.Asn956Lys) rs760227470
NM_017617.5(NOTCH1):c.2871G>T (p.Gly957=)
NM_017617.5(NOTCH1):c.2880C>A (p.Cys960Ter)
NM_017617.5(NOTCH1):c.2883G>A (p.Thr961=)
NM_017617.5(NOTCH1):c.2883G>T (p.Thr961=) rs774785001
NM_017617.5(NOTCH1):c.2890G>A (p.Val964Met)
NM_017617.5(NOTCH1):c.2896A>G (p.Ser966Gly)
NM_017617.5(NOTCH1):c.2898_2899delinsGA (p.Ser966_Tyr967delinsArgAsn) rs1843149230
NM_017617.5(NOTCH1):c.289C>T (p.Leu97Phe)
NM_017617.5(NOTCH1):c.2902A>G (p.Thr968Ala)
NM_017617.5(NOTCH1):c.2918C>T (p.Ala973Val)
NM_017617.5(NOTCH1):c.2919A>G (p.Ala973=) rs766105850
NM_017617.5(NOTCH1):c.2922C>T (p.Gly974=) rs1380594425
NM_017617.5(NOTCH1):c.2931G>A (p.Gly977=)
NM_017617.5(NOTCH1):c.2931G>C (p.Gly977=) rs767071793
NM_017617.5(NOTCH1):c.2935C>T (p.His979Tyr) rs1380298048
NM_017617.5(NOTCH1):c.2950A>G (p.Thr984Ala) rs1843147969
NM_017617.5(NOTCH1):c.2952G>C (p.Thr984=)
NM_017617.5(NOTCH1):c.2958C>T (p.Asp986=) rs775739575
NM_017617.5(NOTCH1):c.2963C>T (p.Thr988Ile) rs1843147704
NM_017617.5(NOTCH1):c.2969+13C>G
NM_017617.5(NOTCH1):c.2969+18G>A
NM_017617.5(NOTCH1):c.2969+2TG[3]
NM_017617.5(NOTCH1):c.2969+6C>T
NM_017617.5(NOTCH1):c.2969+9G>A
NM_017617.5(NOTCH1):c.2970-10C>T rs2133349102
NM_017617.5(NOTCH1):c.2970-20G>T rs367927174
NM_017617.5(NOTCH1):c.2970-5T>G
NM_017617.5(NOTCH1):c.2970-7C>T
NM_017617.5(NOTCH1):c.2970-7del rs34868738
NM_017617.5(NOTCH1):c.2970-9C>G
NM_017617.5(NOTCH1):c.2994C>T (p.Cys998=)
NM_017617.5(NOTCH1):c.299C>T (p.Thr100Ile)
NM_017617.5(NOTCH1):c.3000C>T (p.Asp1000=)
NM_017617.5(NOTCH1):c.3016A>T (p.Thr1006Ser)
NM_017617.5(NOTCH1):c.301C>A (p.Pro101Thr) rs746491686
NM_017617.5(NOTCH1):c.3036C>T (p.Gly1012=)
NM_017617.5(NOTCH1):c.3042G>C (p.Thr1014=)
NM_017617.5(NOTCH1):c.3045C>T (p.Gly1015=) rs2133348920
NM_017617.5(NOTCH1):c.304C>T (p.Leu102=)
NM_017617.5(NOTCH1):c.305T>G (p.Leu102Arg) rs2133379239
NM_017617.5(NOTCH1):c.3060C>T (p.His1020=)
NM_017617.5(NOTCH1):c.3061G>C (p.Asp1021His)
NM_017617.5(NOTCH1):c.3067A>G (p.Asn1023Asp)
NM_017617.5(NOTCH1):c.3087C>A (p.Pro1029=)
NM_017617.5(NOTCH1):c.3087C>T (p.Pro1029=)
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.3110A>G (p.Gln1037Arg) rs1408874772
NM_017617.5(NOTCH1):c.3112G>A (p.Asp1038Asn) rs2133348754
NM_017617.5(NOTCH1):c.3118T>C (p.Cys1040Arg) rs1060502235
NM_017617.5(NOTCH1):c.3129C>T (p.Tyr1043=) rs752650941
NM_017617.5(NOTCH1):c.3137C>A (p.Thr1046Asn)
NM_017617.5(NOTCH1):c.3140G>A (p.Cys1047Tyr) rs1843132240
NM_017617.5(NOTCH1):c.3143C>A (p.Pro1048His)
NM_017617.5(NOTCH1):c.3150C>A (p.Gly1050=) rs1060504523
NM_017617.5(NOTCH1):c.3155C>T (p.Thr1052Ile)
NM_017617.5(NOTCH1):c.3156T>G (p.Thr1052=)
NM_017617.5(NOTCH1):c.3160C>T (p.Pro1054Ser)
NM_017617.5(NOTCH1):c.3165C>A (p.Asn1055Lys) rs1431940702
NM_017617.5(NOTCH1):c.3171+11C>T
NM_017617.5(NOTCH1):c.3171+14C>G
NM_017617.5(NOTCH1):c.3171+3G>A
NM_017617.5(NOTCH1):c.3171+6del
NM_017617.5(NOTCH1):c.3172-14C>T
NM_017617.5(NOTCH1):c.3172-4C>G
NM_017617.5(NOTCH1):c.3172-4C>T
NM_017617.5(NOTCH1):c.3172-5C>G
NM_017617.5(NOTCH1):c.3181C>T (p.His1061Tyr) rs766126767
NM_017617.5(NOTCH1):c.3192C>T (p.Asp1064=) rs587778565
NM_017617.5(NOTCH1):c.3197C>T (p.Ser1066Leu)
NM_017617.5(NOTCH1):c.3221G>A (p.Cys1074Tyr) rs1843122994
NM_017617.5(NOTCH1):c.3230C>T (p.Thr1077Ile) rs1843122920
NM_017617.5(NOTCH1):c.3232C>T (p.His1078Tyr) rs1233569898
NM_017617.5(NOTCH1):c.3236C>T (p.Thr1079Ile)
NM_017617.5(NOTCH1):c.3245G>T (p.Arg1082Leu) rs758471372
NM_017617.5(NOTCH1):c.3250G>C (p.Glu1084Gln) rs766361207
NM_017617.5(NOTCH1):c.3257C>G (p.Pro1086Arg)
NM_017617.5(NOTCH1):c.3260G>A (p.Ser1087Asn)
NM_017617.5(NOTCH1):c.3261C>A (p.Ser1087Arg)
NM_017617.5(NOTCH1):c.3262G>A (p.Gly1088Ser) rs531420022
NM_017617.5(NOTCH1):c.3262G>C (p.Gly1088Arg) rs531420022
NM_017617.5(NOTCH1):c.3263G>A (p.Gly1088Asp)
NM_017617.5(NOTCH1):c.3266G>A (p.Trp1089Ter) rs1554728428
NM_017617.5(NOTCH1):c.3271G>T (p.Gly1091Cys)
NM_017617.5(NOTCH1):c.3281G>A (p.Cys1094Tyr) rs1554728424
NM_017617.5(NOTCH1):c.3283G>A (p.Asp1095Asn)
NM_017617.5(NOTCH1):c.3291C>T (p.Pro1097=) rs1234909362
NM_017617.5(NOTCH1):c.3295G>A (p.Val1099Met)
NM_017617.5(NOTCH1):c.3295G>T (p.Val1099Leu)
NM_017617.5(NOTCH1):c.3300C>G (p.Ser1100=) rs1484716795
NM_017617.5(NOTCH1):c.3312T>A (p.Ala1104=) rs2133347063
NM_017617.5(NOTCH1):c.3315G>A (p.Ala1105=) rs3812602
NM_017617.5(NOTCH1):c.3319C>T (p.Arg1107Ter) rs41309764
NM_017617.5(NOTCH1):c.3325+10T>C rs1060504526
NM_017617.5(NOTCH1):c.3325+18C>T rs762473735
NM_017617.5(NOTCH1):c.3326-13C>A
NM_017617.5(NOTCH1):c.3326-14C>G
NM_017617.5(NOTCH1):c.3326-15C>A rs371180086
NM_017617.5(NOTCH1):c.3326-8C>T rs2133346689
NM_017617.5(NOTCH1):c.3326-9C>T rs994509635
NM_017617.5(NOTCH1):c.3326G>C (p.Gly1109Ala) rs772310059
NM_017617.5(NOTCH1):c.3327T>C (p.Gly1109=)
NM_017617.5(NOTCH1):c.3344T>C (p.Leu1115Pro)
NM_017617.5(NOTCH1):c.3345G>T (p.Leu1115=) rs752440904
NM_017617.5(NOTCH1):c.3353A>G (p.His1118Arg) rs1843118145
NM_017617.5(NOTCH1):c.3356G>T (p.Gly1119Val)
NM_017617.5(NOTCH1):c.335G>A (p.Arg112His) rs768625801
NM_017617.5(NOTCH1):c.335G>T (p.Arg112Leu)
NM_017617.5(NOTCH1):c.3365G>A (p.Cys1122Tyr) rs1589060802
NM_017617.5(NOTCH1):c.3370G>A (p.Asp1124Asn) rs1564192948
NM_017617.5(NOTCH1):c.3372C>T (p.Asp1124=) rs530959956
NM_017617.5(NOTCH1):c.3383C>T (p.Thr1128Met)
NM_017617.5(NOTCH1):c.338A>G (p.Asn113Ser)
NM_017617.5(NOTCH1):c.3394C>T (p.Arg1132Cys)
NM_017617.5(NOTCH1):c.3395G>A (p.Arg1132His) rs1336014812
NM_017617.5(NOTCH1):c.3401_3402delinsTT (p.Gln1134Leu)
NM_017617.5(NOTCH1):c.3403G>A (p.Ala1135Thr) rs1554728380
NM_017617.5(NOTCH1):c.3417C>T (p.Gly1139=) rs753526994
NM_017617.5(NOTCH1):c.3426T>C (p.Cys1142=)
NM_017617.5(NOTCH1):c.3451C>T (p.Pro1151Ser)
NM_017617.5(NOTCH1):c.3455G>C (p.Ser1152Thr) rs1843116111
NM_017617.5(NOTCH1):c.3456C>A (p.Ser1152Arg) rs1354855330
NM_017617.5(NOTCH1):c.3465G>A (p.Gln1155=)
NM_017617.5(NOTCH1):c.3465G>C (p.Gln1155His)
NM_017617.5(NOTCH1):c.3495C>A (p.Gly1165=)
NM_017617.5(NOTCH1):c.3504C>G (p.Ser1168=)
NM_017617.5(NOTCH1):c.3504C>T (p.Ser1168=) rs1475139232
NM_017617.5(NOTCH1):c.3510+11C>T rs1057524613
NM_017617.5(NOTCH1):c.3510+17G>A
NM_017617.5(NOTCH1):c.3510+18G>A
NM_017617.5(NOTCH1):c.3510+3G>C rs372739350
NM_017617.5(NOTCH1):c.3510+9C>T
NM_017617.5(NOTCH1):c.3511-13G>A
NM_017617.5(NOTCH1):c.3511-15C>G
NM_017617.5(NOTCH1):c.3511-18G>A
NM_017617.5(NOTCH1):c.3511-18G>T rs780629106
NM_017617.5(NOTCH1):c.3520G>A (p.Gly1174Ser) rs1272399533
NM_017617.5(NOTCH1):c.352G>A (p.Asp118Asn) rs745590123
NM_017617.5(NOTCH1):c.3530G>C (p.Gly1177Ala)
NM_017617.5(NOTCH1):c.3537C>G (p.Asn1179Lys)
NM_017617.5(NOTCH1):c.3539G>A (p.Cys1180Tyr) rs1218904003
NM_017617.5(NOTCH1):c.3541T>C (p.Ser1181Pro)
NM_017617.5(NOTCH1):c.3542C>T (p.Ser1181Phe)
NM_017617.5(NOTCH1):c.3544GAG[1] (p.Glu1183del) rs1370411882
NM_017617.5(NOTCH1):c.3547G>A (p.Glu1183Lys) rs1300209111
NM_017617.5(NOTCH1):c.3549G>A (p.Glu1183=) rs760814014
NM_017617.5(NOTCH1):c.3549G>T (p.Glu1183Asp)
NM_017617.5(NOTCH1):c.354C>T (p.Asp118=)
NM_017617.5(NOTCH1):c.3550A>T (p.Ile1184Phe)
NM_017617.5(NOTCH1):c.3551T>C (p.Ile1184Thr)
NM_017617.5(NOTCH1):c.3556G>A (p.Glu1186Lys)
NM_017617.5(NOTCH1):c.3556G>C (p.Glu1186Gln)
NM_017617.5(NOTCH1):c.3579G>A (p.Gln1193=) rs61751544
NM_017617.5(NOTCH1):c.3579G>T (p.Gln1193His) rs61751544
NM_017617.5(NOTCH1):c.3585G>A (p.Gly1195=) rs1843105001
NM_017617.5(NOTCH1):c.3596T>C (p.Leu1199Pro)
NM_017617.5(NOTCH1):c.3604C>T (p.Pro1202Ser) rs1554728268
NM_017617.5(NOTCH1):c.3609C>A (p.Asn1203Lys) rs1843104558
NM_017617.5(NOTCH1):c.3638C>G (p.Thr1213Ser) rs750536437
NM_017617.5(NOTCH1):c.3643+16C>T
NM_017617.5(NOTCH1):c.3644-14A>G
NM_017617.5(NOTCH1):c.3649C>T (p.His1217Tyr) rs1327576450
NM_017617.5(NOTCH1):c.3660C>T (p.Ile1220=)
NM_017617.5(NOTCH1):c.3667G>A (p.Asp1223Asn)
NM_017617.5(NOTCH1):c.3667G>T (p.Asp1223Tyr)
NM_017617.5(NOTCH1):c.3677A>G (p.Asn1226Ser)
NM_017617.5(NOTCH1):c.3683C>T (p.Pro1228Leu) rs561646185
NM_017617.5(NOTCH1):c.3684del (p.Val1229fs)
NM_017617.5(NOTCH1):c.3689A>C (p.Asp1230Ala)
NM_017617.5(NOTCH1):c.3692C>A (p.Pro1231His)
NM_017617.5(NOTCH1):c.3693C>G (p.Pro1231=)
NM_017617.5(NOTCH1):c.3707C>T (p.Pro1236Leu)
NM_017617.5(NOTCH1):c.3715T>C (p.Phe1239Leu) rs1478449371
NM_017617.5(NOTCH1):c.3715T>G (p.Phe1239Val)
NM_017617.5(NOTCH1):c.3725G>C (p.Gly1242Ala)
NM_017617.5(NOTCH1):c.3728C>T (p.Thr1243Ile)
NM_017617.5(NOTCH1):c.3730T>G (p.Cys1244Gly)
NM_017617.5(NOTCH1):c.3732C>G (p.Cys1244Trp)
NM_017617.5(NOTCH1):c.3747C>T (p.Gly1249=)
NM_017617.5(NOTCH1):c.374A>T (p.Tyr125Phe) rs779240492
NM_017617.5(NOTCH1):c.3768G>T (p.Pro1256=) rs779987984
NM_017617.5(NOTCH1):c.376A>G (p.Lys126Glu) rs1589072528
NM_017617.5(NOTCH1):c.3770C>G (p.Pro1257Arg)
NM_017617.5(NOTCH1):c.3778G>T (p.Val1260Leu)
NM_017617.5(NOTCH1):c.3788G>T (p.Arg1263Leu)
NM_017617.5(NOTCH1):c.3792_3793del (p.Cys1264_Glu1265delinsTer)
NM_017617.5(NOTCH1):c.3812G>A (p.Cys1271Tyr)
NM_017617.5(NOTCH1):c.3813C>T (p.Cys1271=)
NM_017617.5(NOTCH1):c.3814C>T (p.Leu1272=)
NM_017617.5(NOTCH1):c.3819C>G (p.Ser1273=) rs2133343514
NM_017617.5(NOTCH1):c.3832G>A (p.Ala1278Thr) rs1406056612
NM_017617.5(NOTCH1):c.3833C>T (p.Ala1278Val)
NM_017617.5(NOTCH1):c.383G>T (p.Arg128Leu)
NM_017617.5(NOTCH1):c.3852C>G (p.Cys1284Trp) rs377289044
NM_017617.5(NOTCH1):c.3852C>T (p.Cys1284=) rs377289044
NM_017617.5(NOTCH1):c.3853G>T (p.Val1285Leu) rs756972680
NM_017617.5(NOTCH1):c.3868G>A (p.Asp1290Asn)
NM_017617.5(NOTCH1):c.3870C>G (p.Asp1290Glu)
NM_017617.5(NOTCH1):c.387C>T (p.Cys129=)
NM_017617.5(NOTCH1):c.3880G>A (p.Glu1294Lys)
NM_017617.5(NOTCH1):c.3886C>A (p.Arg1296Ser) rs1056341092
NM_017617.5(NOTCH1):c.3890C>T (p.Ala1297Val)
NM_017617.5(NOTCH1):c.3891T>C (p.Ala1297=)
NM_017617.5(NOTCH1):c.3900C>G (p.Thr1300=)
NM_017617.5(NOTCH1):c.3901+11C>T
NM_017617.5(NOTCH1):c.3901+20G>A
NM_017617.5(NOTCH1):c.3901+4G>A
NM_017617.5(NOTCH1):c.3901+5G>A
NM_017617.5(NOTCH1):c.3901+9C>A
NM_017617.5(NOTCH1):c.3902-5C>T
NM_017617.5(NOTCH1):c.3902-6C>T rs1226411358
NM_017617.5(NOTCH1):c.3902-7C>T
NM_017617.5(NOTCH1):c.3907C>T (p.Arg1303Cys)
NM_017617.5(NOTCH1):c.390G>C (p.Pro130=)
NM_017617.5(NOTCH1):c.390G>T (p.Pro130=) rs61751559
NM_017617.5(NOTCH1):c.3912C>T (p.Cys1304=)
NM_017617.5(NOTCH1):c.3913G>C (p.Glu1305Gln)
NM_017617.5(NOTCH1):c.3915G>A (p.Glu1305=) rs1554728133
NM_017617.5(NOTCH1):c.3919G>A (p.Val1307Ile)
NM_017617.5(NOTCH1):c.3936A>C (p.Lys1312Asn)
NM_017617.5(NOTCH1):c.394G>A (p.Gly132Ser)
NM_017617.5(NOTCH1):c.3970G>T (p.Val1324Leu) rs149057410
NM_017617.5(NOTCH1):c.3974C>A (p.Ala1325Asp) rs896438598
NM_017617.5(NOTCH1):c.3977C>T (p.Ser1326Phe)
NM_017617.5(NOTCH1):c.3984C>T (p.Thr1328=)
NM_017617.5(NOTCH1):c.3985G>A (p.Ala1329Thr) rs763098618
NM_017617.5(NOTCH1):c.4001G>A (p.Cys1334Tyr)
NM_017617.5(NOTCH1):c.4014+9A>G rs1843087537
NM_017617.5(NOTCH1):c.4014G>C (p.Ala1338=) rs377217445
NM_017617.5(NOTCH1):c.4015-19T>C
NM_017617.5(NOTCH1):c.4015-6G>A
NM_017617.5(NOTCH1):c.4016G>C (p.Gly1339Ala) rs1131692021
NM_017617.5(NOTCH1):c.4020C>T (p.Phe1340=)
NM_017617.5(NOTCH1):c.4021G>A (p.Glu1341Lys)
NM_017617.5(NOTCH1):c.4021G>T (p.Glu1341Ter)
NM_017617.5(NOTCH1):c.4025G>A (p.Gly1342Asp)
NM_017617.5(NOTCH1):c.4026C>T (p.Gly1342=)
NM_017617.5(NOTCH1):c.4029C>A (p.Ala1343=) rs969014492
NM_017617.5(NOTCH1):c.403+14C>T
NM_017617.5(NOTCH1):c.403+16C>T
NM_017617.5(NOTCH1):c.403+19C>T
NM_017617.5(NOTCH1):c.403+3G>A
NM_017617.5(NOTCH1):c.403+3del rs2133378865
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.4032G>A (p.Thr1344=)
NM_017617.5(NOTCH1):c.404-5T>C rs1229789449
NM_017617.5(NOTCH1):c.404-6C>G
NM_017617.5(NOTCH1):c.4044C>T (p.Asp1348=)
NM_017617.5(NOTCH1):c.4045G>A (p.Ala1349Thr) rs553328686
NM_017617.5(NOTCH1):c.4049G>A (p.Arg1350His) rs150343794
NM_017617.5(NOTCH1):c.4049G>C (p.Arg1350Pro) rs150343794
NM_017617.5(NOTCH1):c.4049G>T (p.Arg1350Leu) rs150343794
NM_017617.5(NOTCH1):c.4053C>A (p.Thr1351=) rs1267241464
NM_017617.5(NOTCH1):c.4058G>A (p.Gly1353Asp) rs1274662962
NM_017617.5(NOTCH1):c.405G>A (p.Gly135=)
NM_017617.5(NOTCH1):c.4064T>C (p.Leu1355Pro) rs1589059022
NM_017617.5(NOTCH1):c.4071C>A (p.Cys1357Ter) rs1564191302
NM_017617.5(NOTCH1):c.4081G>A (p.Gly1361Ser)
NM_017617.5(NOTCH1):c.4091T>C (p.Ile1364Thr)
NM_017617.5(NOTCH1):c.4096G>C (p.Gly1366Arg) rs778270588
NM_017617.5(NOTCH1):c.4098C>G (p.Gly1366=) rs2133340927
NM_017617.5(NOTCH1):c.410C>A (p.Ser137Ter)
NM_017617.5(NOTCH1):c.410C>T (p.Ser137Leu)
NM_017617.5(NOTCH1):c.4112C>T (p.Thr1371Ile)
NM_017617.5(NOTCH1):c.411G>T (p.Ser137=) rs560826996
NM_017617.5(NOTCH1):c.4120T>C (p.Cys1374Arg) rs864622060
NM_017617.5(NOTCH1):c.4127del (p.Gly1376fs) rs1589058964
NM_017617.5(NOTCH1):c.4128C>G (p.Gly1376=) rs1292953898
NM_017617.5(NOTCH1):c.4130C>T (p.Pro1377Leu) rs1843073620
NM_017617.5(NOTCH1):c.4137G>C (p.Thr1379=) rs762733162
NM_017617.5(NOTCH1):c.4141C>T (p.Pro1381Ser) rs1589058950
NM_017617.5(NOTCH1):c.4142C>T (p.Pro1381Leu) rs752551426
NM_017617.5(NOTCH1):c.4144G>A (p.Glu1382Lys)
NM_017617.5(NOTCH1):c.4149C>T (p.Cys1383=) rs1843072777
NM_017617.5(NOTCH1):c.415C>T (p.Gln139Ter) rs1554730670
NM_017617.5(NOTCH1):c.4162A>C (p.Ser1388Arg) rs2133340569
NM_017617.5(NOTCH1):c.4169C>T (p.Pro1390Leu)
NM_017617.5(NOTCH1):c.4173C>T (p.Cys1391=) rs1589058923
NM_017617.5(NOTCH1):c.4181G>A (p.Gly1394Asp)
NM_017617.5(NOTCH1):c.4183A>G (p.Asn1395Asp)
NM_017617.5(NOTCH1):c.4185C>A (p.Asn1395Lys)
NM_017617.5(NOTCH1):c.4212G>A (p.Glu1404=) rs2133340344
NM_017617.5(NOTCH1):c.4213C>T (p.Pro1405Ser) rs1416597670
NM_017617.5(NOTCH1):c.4214C>T (p.Pro1405Leu)
NM_017617.5(NOTCH1):c.4221C>T (p.Ser1407=)
NM_017617.5(NOTCH1):c.4222G>T (p.Glu1408Ter) rs587778569
NM_017617.5(NOTCH1):c.4228C>T (p.Pro1410Ser)
NM_017617.5(NOTCH1):c.4235A>G (p.Tyr1412Cys) rs2133340251
NM_017617.5(NOTCH1):c.4236C>T (p.Tyr1412=)
NM_017617.5(NOTCH1):c.4237C>T (p.Arg1413Cys) rs1348438354
NM_017617.5(NOTCH1):c.4241G>C (p.Cys1414Ser) rs1554728005
NM_017617.5(NOTCH1):c.4266G>A (p.Gly1422=)
NM_017617.5(NOTCH1):c.4282C>G (p.Leu1428Val) rs1363126385
NM_017617.5(NOTCH1):c.4287C>T (p.Asp1429=) rs2133339971
NM_017617.5(NOTCH1):c.428C>T (p.Pro143Leu) rs1228192276
NM_017617.5(NOTCH1):c.428del (p.Pro143fs) rs2133377982
NM_017617.5(NOTCH1):c.4294T>A (p.Phe1432Ile) rs1843069355
NM_017617.5(NOTCH1):c.4297G>A (p.Gly1433Arg)
NM_017617.5(NOTCH1):c.4297G>C (p.Gly1433Arg) rs751904604
NM_017617.5(NOTCH1):c.429G>T (p.Pro143=) rs757406877
NM_017617.5(NOTCH1):c.4304G>C (p.Gly1435Ala) rs1247192040
NM_017617.5(NOTCH1):c.4311G>T (p.Gly1437=)
NM_017617.5(NOTCH1):c.4312C>A (p.Arg1438Ser) rs746077264
NM_017617.5(NOTCH1):c.4325C>T (p.Pro1442Leu)
NM_017617.5(NOTCH1):c.4327C>A (p.Pro1443Thr)
NM_017617.5(NOTCH1):c.4332G>A (p.Leu1444=)
NM_017617.5(NOTCH1):c.4335C>G (p.Ile1445Met) rs373960609
NM_017617.5(NOTCH1):c.4335C>T (p.Ile1445=) rs373960609
NM_017617.5(NOTCH1):c.433G>A (p.Ala145Thr) rs1388726872
NM_017617.5(NOTCH1):c.433G>T (p.Ala145Ser)
NM_017617.5(NOTCH1):c.4343C>T (p.Ala1448Val)
NM_017617.5(NOTCH1):c.4356C>A (p.Pro1452=)
NM_017617.5(NOTCH1):c.4362C>T (p.Cys1454=) rs944984360
NM_017617.5(NOTCH1):c.4363C>T (p.Gln1455Ter) rs2133339552
NM_017617.5(NOTCH1):c.4368G>A (p.Glu1456=)
NM_017617.5(NOTCH1):c.436_450dup (p.Ala150_Asn151insSerAsnProCysAla)
NM_017617.5(NOTCH1):c.4374G>C (p.Ala1458=)
NM_017617.5(NOTCH1):c.4383G>A (p.Lys1461=)
NM_017617.5(NOTCH1):c.4383G>T (p.Lys1461Asn) rs2133339457
NM_017617.5(NOTCH1):c.4384G>A (p.Val1462Ile)
NM_017617.5(NOTCH1):c.4389C>T (p.Cys1463=)
NM_017617.5(NOTCH1):c.438C>T (p.Ser146=) rs1589072128
NM_017617.5(NOTCH1):c.4393C>G (p.Leu1465Val) rs779863069
NM_017617.5(NOTCH1):c.4396C>T (p.Gln1466Ter) rs2133339381
NM_017617.5(NOTCH1):c.4411G>A (p.Ala1471Thr) rs1414066424
NM_017617.5(NOTCH1):c.4411G>T (p.Ala1471Ser)
NM_017617.5(NOTCH1):c.4412C>A (p.Ala1471Glu)
NM_017617.5(NOTCH1):c.4412C>G (p.Ala1471Gly) rs376799353
NM_017617.5(NOTCH1):c.4443C>T (p.Leu1481=) rs2133339138
NM_017617.5(NOTCH1):c.4444A>G (p.Asn1482Asp) rs1843065776
NM_017617.5(NOTCH1):c.4449C>G (p.Phe1483Leu)
NM_017617.5(NOTCH1):c.4450A>G (p.Asn1484Asp)
NM_017617.5(NOTCH1):c.4467C>G (p.Asn1489Lys)
NM_017617.5(NOTCH1):c.4468T>G (p.Cys1490Gly) rs1843065225
NM_017617.5(NOTCH1):c.4470C>T (p.Cys1490=)
NM_017617.5(NOTCH1):c.4477T>C (p.Ser1493Pro)
NM_017617.5(NOTCH1):c.4480C>T (p.Leu1494=)
NM_017617.5(NOTCH1):c.4481T>G (p.Leu1494Arg)
NM_017617.5(NOTCH1):c.4482G>A (p.Leu1494=)
NM_017617.5(NOTCH1):c.4482G>T (p.Leu1494=)
NM_017617.5(NOTCH1):c.4483C>T (p.Gln1495Ter) rs1036363986
NM_017617.5(NOTCH1):c.4483_4504del (p.Gln1495fs)
NM_017617.5(NOTCH1):c.4487G>A (p.Cys1496Tyr) rs587781259
NM_017617.5(NOTCH1):c.4497C>T (p.Tyr1499=) rs1843064502
NM_017617.5(NOTCH1):c.4507G>A (p.Gly1503Ser)
NM_017617.5(NOTCH1):c.4507G>C (p.Gly1503Arg) rs1243264280
NM_017617.5(NOTCH1):c.4513T>C (p.Cys1505Arg) rs1843064220
NM_017617.5(NOTCH1):c.4520G>A (p.Ser1507Asn)
NM_017617.5(NOTCH1):c.4548C>G (p.Phe1516Leu)
NM_017617.5(NOTCH1):c.4549G>A (p.Asp1517Asn) rs1554727954
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.4586+11G>A
NM_017617.5(NOTCH1):c.4586+11G>C rs777578180
NM_017617.5(NOTCH1):c.4586+14G>A
NM_017617.5(NOTCH1):c.4586+17C>T
NM_017617.5(NOTCH1):c.4586+6G>T
NM_017617.5(NOTCH1):c.4587-10C>A
NM_017617.5(NOTCH1):c.4587-10C>T
NM_017617.5(NOTCH1):c.4587-10dup rs766780122
NM_017617.5(NOTCH1):c.4587-12C>T
NM_017617.5(NOTCH1):c.4587-18G>A
NM_017617.5(NOTCH1):c.4587-1G>T
NM_017617.5(NOTCH1):c.4587-4A>G rs2133337921
NM_017617.5(NOTCH1):c.4587-5C>G
NM_017617.5(NOTCH1):c.4587-5C>T
NM_017617.5(NOTCH1):c.4587-8C>A rs1470543120
NM_017617.5(NOTCH1):c.4590C>G (p.Pro1530=) rs1357545431
NM_017617.5(NOTCH1):c.4593G>A (p.Leu1531=)
NM_017617.5(NOTCH1):c.4597G>A (p.Asp1533Asn)
NM_017617.5(NOTCH1):c.461A>G (p.Gln154Arg)
NM_017617.5(NOTCH1):c.4622G>C (p.Ser1541Thr)
NM_017617.5(NOTCH1):c.4624G>A (p.Asp1542Asn) rs1339004050
NM_017617.5(NOTCH1):c.4627G>A (p.Gly1543Arg) rs533102436
NM_017617.5(NOTCH1):c.4640A>G (p.Gln1547Arg) rs1055806143
NM_017617.5(NOTCH1):c.4643G>A (p.Gly1548Asp)
NM_017617.5(NOTCH1):c.4659G>A (p.Glu1553=)
NM_017617.5(NOTCH1):c.4663G>T (p.Glu1555Ter) rs746342893
NM_017617.5(NOTCH1):c.4664A>C (p.Glu1555Ala) rs781602537
NM_017617.5(NOTCH1):c.4664A>T (p.Glu1555Val)
NM_017617.5(NOTCH1):c.4668G>A (p.Trp1556Ter) rs2133337500
NM_017617.5(NOTCH1):c.4675C>A (p.Leu1559Met)
NM_017617.5(NOTCH1):c.4685C>A (p.Ala1562Glu)
NM_017617.5(NOTCH1):c.4692T>C (p.His1564=)
NM_017617.5(NOTCH1):c.4699G>A (p.Glu1567Lys) rs1333725995
NM_017617.5(NOTCH1):c.4720C>T (p.Leu1574=) rs2133337220
NM_017617.5(NOTCH1):c.4739dup (p.Met1580fs) rs864622061
NM_017617.5(NOTCH1):c.4740G>A (p.Met1580Ile) rs990474354
NM_017617.5(NOTCH1):c.4741C>T (p.Pro1581Ser) rs769288225
NM_017617.5(NOTCH1):c.4749G>A (p.Glu1583=)
NM_017617.5(NOTCH1):c.4753C>T (p.Leu1585=)
NM_017617.5(NOTCH1):c.4758_4759insCA (p.Asn1587fs) rs1843055667
NM_017617.5(NOTCH1):c.475G>C (p.Glu159Gln)
NM_017617.5(NOTCH1):c.4761C>G (p.Asn1587Lys)
NM_017617.5(NOTCH1):c.4761C>T (p.Asn1587=) rs777947269
NM_017617.5(NOTCH1):c.4763G>A (p.Ser1588Asn) rs1843055486
NM_017617.5(NOTCH1):c.4765T>C (p.Ser1589Pro) rs1490218456
NM_017617.5(NOTCH1):c.4773C>G (p.His1591Gln)
NM_017617.5(NOTCH1):c.4776C>A (p.Phe1592Leu) rs752861485
NM_017617.5(NOTCH1):c.4778T>C (p.Leu1593Pro)
NM_017617.5(NOTCH1):c.4780C>T (p.Arg1594Trp)
NM_017617.5(NOTCH1):c.4788C>T (p.Leu1596=) rs2133336800
NM_017617.5(NOTCH1):c.478G>A (p.Ala160Thr)
NM_017617.5(NOTCH1):c.4790G>T (p.Ser1597Ile) rs1564190486
NM_017617.5(NOTCH1):c.4791C>T (p.Ser1597=)
NM_017617.5(NOTCH1):c.4794C>G (p.Arg1598=) rs558708604
NM_017617.5(NOTCH1):c.4797G>C (p.Val1599=)
NM_017617.5(NOTCH1):c.4802A>G (p.His1601Arg) rs2133336705
NM_017617.5(NOTCH1):c.4806C>G (p.Thr1602=)
NM_017617.5(NOTCH1):c.480C>T (p.Ala160=) rs762389418
NM_017617.5(NOTCH1):c.4812G>C (p.Val1604=)
NM_017617.5(NOTCH1):c.4814T>C (p.Val1605Ala)
NM_017617.5(NOTCH1):c.4815_4816insCCCCCC (p.Val1605_Phe1606insProPro)
NM_017617.5(NOTCH1):c.4820A>G (p.Lys1607Arg)
NM_017617.5(NOTCH1):c.4829C>T (p.Ala1610Val) rs1554727837
NM_017617.5(NOTCH1):c.4834G>A (p.Gly1612Ser) rs1166328821
NM_017617.5(NOTCH1):c.4836C>T (p.Gly1612=)
NM_017617.5(NOTCH1):c.4853C>A (p.Pro1618His)
NM_017617.5(NOTCH1):c.4855TAC[1] (p.Tyr1620del)
NM_017617.5(NOTCH1):c.4857C>T (p.Tyr1619=)
NM_017617.5(NOTCH1):c.485A>G (p.Tyr162Cys)
NM_017617.5(NOTCH1):c.4861G>A (p.Gly1621Ser)
NM_017617.5(NOTCH1):c.4864C>T (p.Arg1622Cys)
NM_017617.5(NOTCH1):c.4866C>G (p.Arg1622=) rs772314400
NM_017617.5(NOTCH1):c.486C>T (p.Tyr162=)
NM_017617.5(NOTCH1):c.4870G>C (p.Glu1624Gln) rs1843052920
NM_017617.5(NOTCH1):c.4878G>A (p.Leu1626=)
NM_017617.5(NOTCH1):c.4881C>T (p.Arg1627=)
NM_017617.5(NOTCH1):c.4890C>T (p.Pro1630=)
NM_017617.5(NOTCH1):c.4891A>G (p.Ile1631Val)
NM_017617.5(NOTCH1):c.4897C>A (p.Arg1633Ser)
NM_017617.5(NOTCH1):c.4902C>G (p.Ala1634=)
NM_017617.5(NOTCH1):c.4902C>T (p.Ala1634=)
NM_017617.5(NOTCH1):c.4903G>A (p.Ala1635Thr)
NM_017617.5(NOTCH1):c.4908G>T (p.Glu1636Asp) rs1275439825
NM_017617.5(NOTCH1):c.4911C>G (p.Gly1637=)
NM_017617.5(NOTCH1):c.4915G>A (p.Ala1639Thr) rs878855026
NM_017617.5(NOTCH1):c.4917C>A (p.Ala1639=)
NM_017617.5(NOTCH1):c.4926C>T (p.Asp1642=)
NM_017617.5(NOTCH1):c.4927G>C (p.Ala1643Pro)
NM_017617.5(NOTCH1):c.4929C>A (p.Ala1643=)
NM_017617.5(NOTCH1):c.4931T>C (p.Leu1644Pro)
NM_017617.5(NOTCH1):c.4932G>C (p.Leu1644=)
NM_017617.5(NOTCH1):c.4938C>A (p.Gly1646=)
NM_017617.5(NOTCH1):c.4941G>A (p.Gln1647=) rs1589058142
NM_017617.5(NOTCH1):c.4953G>A (p.Ser1651=) rs761306198
NM_017617.5(NOTCH1):c.4953G>T (p.Ser1651=) rs761306198
NM_017617.5(NOTCH1):c.4953GCT[1] (p.Leu1653del)
NM_017617.5(NOTCH1):c.4961C>A (p.Pro1654His) rs1381525257
NM_017617.5(NOTCH1):c.4964G>A (p.Gly1655Asp)
NM_017617.5(NOTCH1):c.4969A>T (p.Ser1657Cys)
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.4982G>A (p.Arg1661Gln)
NM_017617.5(NOTCH1):c.4985G>A (p.Arg1662Gln) rs774808496
NM_017617.5(NOTCH1):c.4987C>T (p.Arg1663Trp)
NM_017617.5(NOTCH1):c.4988G>T (p.Arg1663Leu)
NM_017617.5(NOTCH1):c.5006T>C (p.Met1669Thr)
NM_017617.5(NOTCH1):c.5007G>A (p.Met1669Ile)
NM_017617.5(NOTCH1):c.5016C>T (p.Arg1672=) rs1251609154
NM_017617.5(NOTCH1):c.5018+12C>T rs1225398496
NM_017617.5(NOTCH1):c.5018+5G>A
NM_017617.5(NOTCH1):c.5018+6_5018+9del
NM_017617.5(NOTCH1):c.5019-10G>A
NM_017617.5(NOTCH1):c.5019-13_5019-10del rs374419074
NM_017617.5(NOTCH1):c.5019-18C>T
NM_017617.5(NOTCH1):c.5019-20CT[2] rs748274615
NM_017617.5(NOTCH1):c.5019-3C>T
NM_017617.5(NOTCH1):c.5019-9T>C rs1589057393
NM_017617.5(NOTCH1):c.501A>T (p.Pro167=) rs1554730657
NM_017617.5(NOTCH1):c.5025C>T (p.Ile1675=)
NM_017617.5(NOTCH1):c.5026G>A (p.Val1676Ile) rs1261408162
NM_017617.5(NOTCH1):c.5032C>T (p.Leu1678=)
NM_017617.5(NOTCH1):c.5057T>G (p.Val1686Gly)
NM_017617.5(NOTCH1):c.5064C>G (p.Ala1688=)
NM_017617.5(NOTCH1):c.5073G>C (p.Gln1691His) rs61751538
NM_017617.5(NOTCH1):c.5101G>A (p.Ala1701Thr) rs1443819558
NM_017617.5(NOTCH1):c.5119G>A (p.Ala1707Thr)
NM_017617.5(NOTCH1):c.5124G>A (p.Ser1708=) rs35980907
NM_017617.5(NOTCH1):c.5128G>C (p.Gly1710Arg)
NM_017617.5(NOTCH1):c.5137A>G (p.Asn1713Asp)
NM_017617.5(NOTCH1):c.5138A>C (p.Asn1713Thr) rs200053816
NM_017617.5(NOTCH1):c.513T>C (p.His171=)
NM_017617.5(NOTCH1):c.5140A>G (p.Ile1714Val) rs2133333190
NM_017617.5(NOTCH1):c.5154C>A (p.Ile1718=)
NM_017617.5(NOTCH1):c.5155G>A (p.Glu1719Lys) rs750085425
NM_017617.5(NOTCH1):c.5161G>A (p.Val1721Met)
NM_017617.5(NOTCH1):c.5167+18C>A
NM_017617.5(NOTCH1):c.5167+19C>G rs751046078
NM_017617.5(NOTCH1):c.5167+20G>A
NM_017617.5(NOTCH1):c.5167+3A>G rs1025172473
NM_017617.5(NOTCH1):c.5168-16G>A rs2133331940
NM_017617.5(NOTCH1):c.5168-18del
NM_017617.5(NOTCH1):c.5168-20C>T
NM_017617.5(NOTCH1):c.5168-5C>G
NM_017617.5(NOTCH1):c.5168-7C>T rs1589056781
NM_017617.5(NOTCH1):c.5168-8G>A rs781506247
NM_017617.5(NOTCH1):c.5168G>A (p.Ser1723Asn)
NM_017617.5(NOTCH1):c.5176G>A (p.Val1726Met)
NM_017617.5(NOTCH1):c.5181G>A (p.Glu1727=)
NM_017617.5(NOTCH1):c.5181G>T (p.Glu1727Asp) rs1843014055
NM_017617.5(NOTCH1):c.5191C>A (p.Pro1731Thr)
NM_017617.5(NOTCH1):c.5195C>T (p.Ala1732Val) rs768040014
NM_017617.5(NOTCH1):c.5196G>A (p.Ala1732=)
NM_017617.5(NOTCH1):c.5201T>A (p.Leu1734Gln) rs780546252
NM_017617.5(NOTCH1):c.5205C>T (p.His1735=)
NM_017617.5(NOTCH1):c.520A>C (p.Thr174Pro) rs771225163
NM_017617.5(NOTCH1):c.5211G>T (p.Met1737Ile)
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.5227G>A (p.Ala1743Thr)
NM_017617.5(NOTCH1):c.523T>G (p.Cys175Gly)
NM_017617.5(NOTCH1):c.5256C>G (p.Cys1752Trp)
NM_017617.5(NOTCH1):c.5256C>T (p.Cys1752=)
NM_017617.5(NOTCH1):c.525C>T (p.Cys175=)
NM_017617.5(NOTCH1):c.5266C>T (p.Leu1756=) rs746342953
NM_017617.5(NOTCH1):c.5270C>T (p.Ser1757Phe) rs1843012177
NM_017617.5(NOTCH1):c.5272C>G (p.Arg1758Gly) rs777859108
NM_017617.5(NOTCH1):c.5272C>T (p.Arg1758Cys)
NM_017617.5(NOTCH1):c.527_528delinsTT (p.Arg176Leu) rs1564203258
NM_017617.5(NOTCH1):c.5281C>T (p.Arg1761Trp)
NM_017617.5(NOTCH1):c.5285G>A (p.Arg1762Gln) rs942439472
NM_017617.5(NOTCH1):c.5296C>A (p.Gln1766Lys) rs1843011278
NM_017617.5(NOTCH1):c.5297A>G (p.Gln1766Arg)
NM_017617.5(NOTCH1):c.5298G>A (p.Gln1766=)
NM_017617.5(NOTCH1):c.5299C>G (p.Leu1767Val)
NM_017617.5(NOTCH1):c.5307C>T (p.Phe1769=) rs1400804279
NM_017617.5(NOTCH1):c.5310_5314dup (p.Gly1772fs)
NM_017617.5(NOTCH1):c.5326T>G (p.Ser1776Ala)
NM_017617.5(NOTCH1):c.5332G>C (p.Ala1778Pro) rs986394043
NM_017617.5(NOTCH1):c.5333C>G (p.Ala1778Gly) rs1422917398
NM_017617.5(NOTCH1):c.5333C>T (p.Ala1778Val)
NM_017617.5(NOTCH1):c.5342A>G (p.Lys1781Arg)
NM_017617.5(NOTCH1):c.5350C>G (p.Arg1784Gly) rs1843010487
NM_017617.5(NOTCH1):c.5356C>T (p.Pro1786Ser) rs1843010413
NM_017617.5(NOTCH1):c.5358C>T (p.Pro1786=)
NM_017617.5(NOTCH1):c.5362G>A (p.Gly1788Ser) rs1843010334
NM_017617.5(NOTCH1):c.5370C>T (p.Asp1790=) rs2133330858
NM_017617.5(NOTCH1):c.5384+3G>C rs1843010026
NM_017617.5(NOTCH1):c.5384+8G>A
NM_017617.5(NOTCH1):c.5385-10C>T rs2133330224
NM_017617.5(NOTCH1):c.5385-17G>A rs746960421
NM_017617.5(NOTCH1):c.5385-2dup
NM_017617.5(NOTCH1):c.5385-3C>T
NM_017617.5(NOTCH1):c.5385-7C>T
NM_017617.5(NOTCH1):c.5385-9A>G rs2133330218
NM_017617.5(NOTCH1):c.5386C>T (p.Pro1796Ser)
NM_017617.5(NOTCH1):c.5388C>T (p.Pro1796=)
NM_017617.5(NOTCH1):c.538A>G (p.Asn180Asp)
NM_017617.5(NOTCH1):c.5394G>A (p.Lys1798=)
NM_017617.5(NOTCH1):c.5402C>G (p.Ser1801Ter)
NM_017617.5(NOTCH1):c.5418G>A (p.Met1806Ile) rs556708225
NM_017617.5(NOTCH1):c.5423A>G (p.Asp1808Gly) rs1589056398
NM_017617.5(NOTCH1):c.5427C>T (p.Asn1809=)
NM_017617.5(NOTCH1):c.5434G>A (p.Glu1812Lys) rs1843005451
NM_017617.5(NOTCH1):c.5438G>C (p.Trp1813Ser)
NM_017617.5(NOTCH1):c.5438G>T (p.Trp1813Leu) rs755659037
NM_017617.5(NOTCH1):c.5444A>G (p.Asp1815Gly)
NM_017617.5(NOTCH1):c.5446G>A (p.Glu1816Lys)
NM_017617.5(NOTCH1):c.5447A>G (p.Glu1816Gly) rs2133329831
NM_017617.5(NOTCH1):c.5455G>C (p.Glu1819Gln) rs2133329789
NM_017617.5(NOTCH1):c.5462A>G (p.Lys1821Arg)
NM_017617.5(NOTCH1):c.5470C>T (p.Arg1824Trp)
NM_017617.5(NOTCH1):c.5471G>T (p.Arg1824Leu)
NM_017617.5(NOTCH1):c.5472+15T>A
NM_017617.5(NOTCH1):c.5472+16C>T
NM_017617.5(NOTCH1):c.5472+18C>A
NM_017617.5(NOTCH1):c.5472+18C>G
NM_017617.5(NOTCH1):c.5472+19G>A
NM_017617.5(NOTCH1):c.5472+19G>C rs755674060
NM_017617.5(NOTCH1):c.5472+7C>T
NM_017617.5(NOTCH1):c.5472+8G>T
NM_017617.5(NOTCH1):c.5473-12C>T
NM_017617.5(NOTCH1):c.5473-15A>C
NM_017617.5(NOTCH1):c.5475C>T (p.Phe1825=)
NM_017617.5(NOTCH1):c.5476G>A (p.Glu1826Lys) rs374103443
NM_017617.5(NOTCH1):c.5479G>A (p.Glu1827Lys)
NM_017617.5(NOTCH1):c.547G>C (p.Gly183Arg) rs1843399830
NM_017617.5(NOTCH1):c.5500C>G (p.Leu1834Val) rs73668312
NM_017617.5(NOTCH1):c.5502G>C (p.Leu1834=) rs1259279311
NM_017617.5(NOTCH1):c.5508C>A (p.Asp1836Glu)
NM_017617.5(NOTCH1):c.550C>T (p.Gln184Ter) rs1589072024
NM_017617.5(NOTCH1):c.5519A>G (p.His1840Arg)
NM_017617.5(NOTCH1):c.5532T>C (p.Thr1844=)
NM_017617.5(NOTCH1):c.5535_5536delinsAA (p.Gln1846Lys) rs878855027
NM_017617.5(NOTCH1):c.553A>C (p.Lys185Gln)
NM_017617.5(NOTCH1):c.5540A>C (p.His1847Pro) rs1843001736
NM_017617.5(NOTCH1):c.5557C>T (p.Leu1853=)
NM_017617.5(NOTCH1):c.5559G>A (p.Leu1853=)
NM_017617.5(NOTCH1):c.5561G>A (p.Arg1854His) rs878855028
NM_017617.5(NOTCH1):c.5563A>C (p.Met1855Leu)
NM_017617.5(NOTCH1):c.5567C>A (p.Ser1856Tyr)
NM_017617.5(NOTCH1):c.556C>T (p.Pro186Ser)
NM_017617.5(NOTCH1):c.5570C>G (p.Ala1857Gly) rs1370862526
NM_017617.5(NOTCH1):c.5571C>T (p.Ala1857=)
NM_017617.5(NOTCH1):c.557C>T (p.Pro186Leu) rs2133377659
NM_017617.5(NOTCH1):c.5591A>G (p.Gln1864Arg)
NM_017617.5(NOTCH1):c.5594G>A (p.Gly1865Asp) rs2133328665
NM_017617.5(NOTCH1):c.5599G>T (p.Val1867Phe)
NM_017617.5(NOTCH1):c.5603A>T (p.Asp1868Val)
NM_017617.5(NOTCH1):c.5605G>A (p.Ala1869Thr) rs200603539
NM_017617.5(NOTCH1):c.5605G>T (p.Ala1869Ser) rs200603539
NM_017617.5(NOTCH1):c.5607C>T (p.Ala1869=)
NM_017617.5(NOTCH1):c.5612G>T (p.Cys1871Phe)
NM_017617.5(NOTCH1):c.5620G>A (p.Val1874Ile)
NM_017617.5(NOTCH1):c.5630G>A (p.Arg1877His)
NM_017617.5(NOTCH1):c.5638+19A>C
NM_017617.5(NOTCH1):c.5639-10G>C rs1842984290
NM_017617.5(NOTCH1):c.5639-14C>T
NM_017617.5(NOTCH1):c.5639-16G>A
NM_017617.5(NOTCH1):c.5639-19C>A
NM_017617.5(NOTCH1):c.5639-7T>C rs1842984230
NM_017617.5(NOTCH1):c.5651C>T (p.Pro1884Leu) rs545259523
NM_017617.5(NOTCH1):c.5661C>T (p.Ile1887=) rs750185397
NM_017617.5(NOTCH1):c.5671A>G (p.Ser1891Gly) rs2133326726
NM_017617.5(NOTCH1):c.5678G>T (p.Gly1893Val) rs1292487339
NM_017617.5(NOTCH1):c.5680G>A (p.Gly1894Ser)
NM_017617.5(NOTCH1):c.5685G>A (p.Leu1895=) rs1060504521
NM_017617.5(NOTCH1):c.5691G>A (p.Thr1897=) rs373612059
NM_017617.5(NOTCH1):c.5697C>A (p.Asn1899Lys) rs747229390
NM_017617.5(NOTCH1):c.5698A>G (p.Ser1900Gly) rs200190466
NM_017617.5(NOTCH1):c.569G>A (p.Arg190His) rs761616770
NM_017617.5(NOTCH1):c.5712G>T (p.Glu1904Asp)
NM_017617.5(NOTCH1):c.5717C>T (p.Ala1906Val)
NM_017617.5(NOTCH1):c.5731T>C (p.Ser1911Pro) rs2133326413
NM_017617.5(NOTCH1):c.5733C>A (p.Ser1911=)
NM_017617.5(NOTCH1):c.5739C>T (p.Phe1913=)
NM_017617.5(NOTCH1):c.5742C>T (p.Ile1914=)
NM_017617.5(NOTCH1):c.5751C>A (p.Gly1917=) rs752199771
NM_017617.5(NOTCH1):c.5751C>T (p.Gly1917=)
NM_017617.5(NOTCH1):c.5763C>G (p.His1921Gln)
NM_017617.5(NOTCH1):c.5766C>A (p.Asn1922Lys)
NM_017617.5(NOTCH1):c.5768A>G (p.Gln1923Arg) rs1842981791
NM_017617.5(NOTCH1):c.5772A>C (p.Thr1924=)
NM_017617.5(NOTCH1):c.5777G>T (p.Arg1926Leu) rs771407924
NM_017617.5(NOTCH1):c.5780C>T (p.Thr1927Met) rs1554826860
NM_017617.5(NOTCH1):c.578G>T (p.Gly193Val) rs774966208
NM_017617.5(NOTCH1):c.5795T>C (p.Leu1932Ser) rs1842981231
NM_017617.5(NOTCH1):c.5806G>T (p.Ala1936Ser)
NM_017617.5(NOTCH1):c.580A>C (p.Thr194Pro) rs770333242
NM_017617.5(NOTCH1):c.5814C>T (p.Tyr1938=)
NM_017617.5(NOTCH1):c.5819G>A (p.Arg1940His) rs897872809
NM_017617.5(NOTCH1):c.5820C>T (p.Arg1940=)
NM_017617.5(NOTCH1):c.5829C>A (p.Ala1943=) rs1036442909
NM_017617.5(NOTCH1):c.5836C>G (p.Arg1946Gly)
NM_017617.5(NOTCH1):c.5888C>A (p.Thr1963Asn)
NM_017617.5(NOTCH1):c.5899G>A (p.Ala1967Thr)
NM_017617.5(NOTCH1):c.5905G>A (p.Val1969Met) rs1842979490
NM_017617.5(NOTCH1):c.5906dup (p.Ser1970fs)
NM_017617.5(NOTCH1):c.5907G>A (p.Val1969=)
NM_017617.5(NOTCH1):c.5919A>G (p.Ala1973=) rs781224907
NM_017617.5(NOTCH1):c.5920C>A (p.Gln1974Lys)
NM_017617.5(NOTCH1):c.5922A>G (p.Gln1974=) rs770803201
NM_017617.5(NOTCH1):c.592G>A (p.Glu198Lys)
NM_017617.5(NOTCH1):c.5934+10G>A
NM_017617.5(NOTCH1):c.5934+12C>G
NM_017617.5(NOTCH1):c.5934+20G>A
NM_017617.5(NOTCH1):c.5934+6C>T
NM_017617.5(NOTCH1):c.607C>T (p.Arg203Cys)
NM_017617.5(NOTCH1):c.608G>A (p.Arg203His) rs182763411
NM_017617.5(NOTCH1):c.61+17C>T
NM_017617.5(NOTCH1):c.61+18C>A
NM_017617.5(NOTCH1):c.61+19G>A rs957002412
NM_017617.5(NOTCH1):c.613G>C (p.Val205Leu)
NM_017617.5(NOTCH1):c.6181-12C>G
NM_017617.5(NOTCH1):c.6181-16C>T
NM_017617.5(NOTCH1):c.6181-5C>G
NM_017617.5(NOTCH1):c.6181-7C>G
NM_017617.5(NOTCH1):c.6192C>T (p.Pro2064=)
NM_017617.5(NOTCH1):c.6197T>G (p.Phe2066Cys)
NM_017617.5(NOTCH1):c.6198T>C (p.Phe2066=)
NM_017617.5(NOTCH1):c.619C>T (p.Arg207Cys)
NM_017617.5(NOTCH1):c.62-14C>T rs1426366565
NM_017617.5(NOTCH1):c.62-15_62-13del
NM_017617.5(NOTCH1):c.62-16T>G rs1164452688
NM_017617.5(NOTCH1):c.62-17C>G
NM_017617.5(NOTCH1):c.62-3T>C rs2133406300
NM_017617.5(NOTCH1):c.62-4C>T
NM_017617.5(NOTCH1):c.62-5C>A
NM_017617.5(NOTCH1):c.620G>A (p.Arg207His) rs779118023
NM_017617.5(NOTCH1):c.6219C>G (p.Ser2073Arg)
NM_017617.5(NOTCH1):c.6232A>G (p.Lys2078Glu) rs1186927156
NM_017617.5(NOTCH1):c.6234G>A (p.Lys2078=) rs1485488069
NM_017617.5(NOTCH1):c.6252T>C (p.Phe2084=)
NM_017617.5(NOTCH1):c.6254C>G (p.Ala2085Gly) rs1215496202
NM_017617.5(NOTCH1):c.6254C>T (p.Ala2085Val)
NM_017617.5(NOTCH1):c.6256A>T (p.Asn2086Tyr)
NM_017617.5(NOTCH1):c.6269C>T (p.Thr2090Met) rs1215473021
NM_017617.5(NOTCH1):c.6275A>C (p.His2092Pro) rs1554826539
NM_017617.5(NOTCH1):c.6284G>T (p.Arg2095Leu) rs756874994
NM_017617.5(NOTCH1):c.6291G>T (p.Pro2097=) rs201987555
NM_017617.5(NOTCH1):c.6292C>T (p.Arg2098Cys)
NM_017617.5(NOTCH1):c.6298A>G (p.Ile2100Val)
NM_017617.5(NOTCH1):c.6300C>T (p.Ile2100=) rs773483690
NM_017617.5(NOTCH1):c.6310C>T (p.Arg2104Cys) rs1307220376
NM_017617.5(NOTCH1):c.6311G>A (p.Arg2104His) rs1842934984
NM_017617.5(NOTCH1):c.6342C>G (p.Asp2114Glu) rs746682300
NM_017617.5(NOTCH1):c.6349A>T (p.Asn2117Tyr)
NM_017617.5(NOTCH1):c.6362G>A (p.Ser2121Asn) rs761054017
NM_017617.5(NOTCH1):c.6363C>G (p.Ser2121Arg)
NM_017617.5(NOTCH1):c.6365C>G (p.Pro2122Arg)
NM_017617.5(NOTCH1):c.6368A>G (p.Gln2123Arg)
NM_017617.5(NOTCH1):c.636C>T (p.Gly212=) rs1843397551
NM_017617.5(NOTCH1):c.6373C>T (p.His2125Tyr) rs2133318919
NM_017617.5(NOTCH1):c.6375C>G (p.His2125Gln) rs369009290
NM_017617.5(NOTCH1):c.6375C>T (p.His2125=) rs369009290
NM_017617.5(NOTCH1):c.637C>T (p.Pro213Ser)
NM_017617.5(NOTCH1):c.6387G>T (p.Leu2129=)
NM_017617.5(NOTCH1):c.6392del (p.Gly2131fs)
NM_017617.5(NOTCH1):c.6393C>T (p.Gly2131=) rs1390112624
NM_017617.5(NOTCH1):c.6396G>A (p.Thr2132=) rs554843595
NM_017617.5(NOTCH1):c.6396G>C (p.Thr2132=) rs554843595
NM_017617.5(NOTCH1):c.6397C>A (p.Pro2133Thr) rs61733294
NM_017617.5(NOTCH1):c.6402C>T (p.Thr2134=) rs2133318771
NM_017617.5(NOTCH1):c.6403C>T (p.Leu2135=)
NM_017617.5(NOTCH1):c.6413dup (p.Leu2139fs) rs1842932983
NM_017617.5(NOTCH1):c.6423G>A (p.Ser2141=)
NM_017617.5(NOTCH1):c.6423G>T (p.Ser2141=)
NM_017617.5(NOTCH1):c.6424C>T (p.Pro2142Ser)
NM_017617.5(NOTCH1):c.6428A>G (p.Asn2143Ser) rs1085307778
NM_017617.5(NOTCH1):c.6430G>A (p.Gly2144Ser)
NM_017617.5(NOTCH1):c.6450G>T (p.Lys2150Asn)
NM_017617.5(NOTCH1):c.6451C>T (p.Pro2151Ser) rs1842932370
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.6463G>A (p.Gly2155Ser) rs1035043614
NM_017617.5(NOTCH1):c.6466A>G (p.Lys2156Glu)
NM_017617.5(NOTCH1):c.646G>A (p.Glu216Lys)
NM_017617.5(NOTCH1):c.6470A>C (p.Lys2157Thr) rs1564568574
NM_017617.5(NOTCH1):c.6480G>A (p.Lys2160=)
NM_017617.5(NOTCH1):c.6489C>G (p.Ser2163Arg)
NM_017617.5(NOTCH1):c.6495C>T (p.Gly2165=)
NM_017617.5(NOTCH1):c.6496C>T (p.Leu2166=) rs2133318278
NM_017617.5(NOTCH1):c.6500C>A (p.Ala2167Asp)
NM_017617.5(NOTCH1):c.6503G>C (p.Cys2168Ser)
NM_017617.5(NOTCH1):c.6512A>G (p.Lys2171Arg)
NM_017617.5(NOTCH1):c.6517G>A (p.Ala2173Thr) rs1060502234
NM_017617.5(NOTCH1):c.651G>A (p.Arg217=)
NM_017617.5(NOTCH1):c.6532G>A (p.Ala2178Thr) rs1197184303
NM_017617.5(NOTCH1):c.6535C>T (p.Arg2179Trp)
NM_017617.5(NOTCH1):c.6536G>A (p.Arg2179Gln) rs587778571
NM_017617.5(NOTCH1):c.6551A>G (p.Gln2184Arg) rs2133318027
NM_017617.5(NOTCH1):c.6552G>T (p.Gln2184His)
NM_017617.5(NOTCH1):c.6556G>A (p.Gly2186Ser)
NM_017617.5(NOTCH1):c.6557G>T (p.Gly2186Val)
NM_017617.5(NOTCH1):c.6563G>T (p.Gly2188Val)
NM_017617.5(NOTCH1):c.6567C>T (p.Cys2189=)
NM_017617.5(NOTCH1):c.6570G>C (p.Leu2190=) rs200630233
NM_017617.5(NOTCH1):c.657C>T (p.Tyr219=) rs772778125
NM_017617.5(NOTCH1):c.6585C>T (p.Gly2195=) rs1842929880
NM_017617.5(NOTCH1):c.658G>A (p.Val220Met) rs754236791
NM_017617.5(NOTCH1):c.6593C>G (p.Ser2198Trp)
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.6598G>A (p.Val2200Met)
NM_017617.5(NOTCH1):c.65C>G (p.Pro22Arg)
NM_017617.5(NOTCH1):c.6612G>A (p.Glu2204=)
NM_017617.5(NOTCH1):c.6620A>G (p.His2207Arg)
NM_017617.5(NOTCH1):c.6630G>A (p.Leu2210=) rs1589053186
NM_017617.5(NOTCH1):c.6639G>A (p.Val2213=)
NM_017617.5(NOTCH1):c.6647C>G (p.Pro2216Arg)
NM_017617.5(NOTCH1):c.6647C>T (p.Pro2216Leu)
NM_017617.5(NOTCH1):c.6651A>C (p.Pro2217=)
NM_017617.5(NOTCH1):c.6666G>A (p.Pro2222=) rs202229687
NM_017617.5(NOTCH1):c.6666G>C (p.Pro2222=) rs202229687
NM_017617.5(NOTCH1):c.6668T>C (p.Phe2223Ser) rs1842928462
NM_017617.5(NOTCH1):c.6681G>A (p.Pro2227=)
NM_017617.5(NOTCH1):c.6684C>T (p.Ser2228=)
NM_017617.5(NOTCH1):c.669C>T (p.Ser223=) rs1589071892
NM_017617.5(NOTCH1):c.66G>C (p.Pro22=)
NM_017617.5(NOTCH1):c.6700C>T (p.Leu2234=)
NM_017617.5(NOTCH1):c.6706G>A (p.Gly2236Arg)
NM_017617.5(NOTCH1):c.670C>G (p.Pro224Ala)
NM_017617.5(NOTCH1):c.6712C>T (p.Pro2238Ser)
NM_017617.5(NOTCH1):c.6715G>A (p.Asp2239Asn)
NM_017617.5(NOTCH1):c.6724C>G (p.Leu2242Val)
NM_017617.5(NOTCH1):c.6724C>T (p.Leu2242=) rs1589053091
NM_017617.5(NOTCH1):c.672C>T (p.Pro224=) rs777019253
NM_017617.5(NOTCH1):c.6732C>A (p.Ile2244=)
NM_017617.5(NOTCH1):c.6735G>A (p.Gly2245=)
NM_017617.5(NOTCH1):c.6738C>G (p.His2246Gln) rs1842927243
NM_017617.5(NOTCH1):c.6739C>G (p.Leu2247Val) rs377165086
NM_017617.5(NOTCH1):c.6739C>T (p.Leu2247=) rs377165086
NM_017617.5(NOTCH1):c.6740T>C (p.Leu2247Pro)
NM_017617.5(NOTCH1):c.6744C>G (p.Asn2248Lys) rs372771288
NM_017617.5(NOTCH1):c.6747G>A (p.Val2249=) rs751544476
NM_017617.5(NOTCH1):c.6748G>A (p.Ala2250Thr) rs1436539393
NM_017617.5(NOTCH1):c.6753C>G (p.Ala2251=) rs542875894
NM_017617.5(NOTCH1):c.6759C>G (p.Pro2253=) rs770738954
NM_017617.5(NOTCH1):c.6767C>T (p.Ala2256Val) rs759225800
NM_017617.5(NOTCH1):c.6771G>A (p.Ala2257=)
NM_017617.5(NOTCH1):c.6771G>C (p.Ala2257=)
NM_017617.5(NOTCH1):c.6773T>C (p.Leu2258Pro)
NM_017617.5(NOTCH1):c.6776G>T (p.Gly2259Val)
NM_017617.5(NOTCH1):c.677C>T (p.Pro226Leu) rs1843395886
NM_017617.5(NOTCH1):c.6791T>A (p.Leu2264Gln) rs2133317177
NM_017617.5(NOTCH1):c.6793G>C (p.Ala2265Pro)
NM_017617.5(NOTCH1):c.6810_6812del (p.Pro2271del)
NM_017617.5(NOTCH1):c.6819C>T (p.Leu2273=) rs778759745
NM_017617.5(NOTCH1):c.6851C>T (p.Thr2284Ile) rs1341934554
NM_017617.5(NOTCH1):c.6852C>A (p.Thr2284=)
NM_017617.5(NOTCH1):c.6857T>A (p.Leu2286Gln)
NM_017617.5(NOTCH1):c.6864C>T (p.Ser2288=)
NM_017617.5(NOTCH1):c.6869G>A (p.Ser2290Asn) rs763183789
NM_017617.5(NOTCH1):c.6869G>T (p.Ser2290Ile) rs763183789
NM_017617.5(NOTCH1):c.6879C>T (p.Ala2293=) rs1015422139
NM_017617.5(NOTCH1):c.6880C>G (p.Leu2294Val)
NM_017617.5(NOTCH1):c.6880C>T (p.Leu2294=)
NM_017617.5(NOTCH1):c.6884A>G (p.Asn2295Ser)
NM_017617.5(NOTCH1):c.6894G>A (p.Val2298=)
NM_017617.5(NOTCH1):c.6903C>T (p.Ser2301=) rs1842923327
NM_017617.5(NOTCH1):c.6905C>T (p.Thr2302Ile)
NM_017617.5(NOTCH1):c.6913_6916del (p.Asn2305fs)
NM_017617.5(NOTCH1):c.691G>A (p.Gly231Ser) rs1247729687
NM_017617.5(NOTCH1):c.6923G>T (p.Cys2308Phe)
NM_017617.5(NOTCH1):c.6924C>G (p.Cys2308Trp) rs756653663
NM_017617.5(NOTCH1):c.6924C>T (p.Cys2308=) rs756653663
NM_017617.5(NOTCH1):c.6925G>A (p.Glu2309Lys)
NM_017617.5(NOTCH1):c.6936C>T (p.Ser2312=) rs1190107678
NM_017617.5(NOTCH1):c.6944A>C (p.Gln2315Pro)
NM_017617.5(NOTCH1):c.6947G>A (p.Ser2316Asn)
NM_017617.5(NOTCH1):c.6950G>C (p.Gly2317Ala)
NM_017617.5(NOTCH1):c.6966A>G (p.Gln2322=) rs1318983291
NM_017617.5(NOTCH1):c.6980G>C (p.Arg2327Pro)
NM_017617.5(NOTCH1):c.6983G>T (p.Gly2328Val)
NM_017617.5(NOTCH1):c.6986G>C (p.Ser2329Thr)
NM_017617.5(NOTCH1):c.6993A>G (p.Ala2331=) rs1554826428
NM_017617.5(NOTCH1):c.6996A>G (p.Pro2332=) rs2133316587
NM_017617.5(NOTCH1):c.7000C>T (p.Pro2334Ser)
NM_017617.5(NOTCH1):c.7001C>G (p.Pro2334Arg)
NM_017617.5(NOTCH1):c.700C>T (p.Arg234Cys) rs567890045
NM_017617.5(NOTCH1):c.7010C>T (p.Thr2337Ile)
NM_017617.5(NOTCH1):c.7011A>C (p.Thr2337=)
NM_017617.5(NOTCH1):c.7028A>T (p.Gln2343Leu)
NM_017617.5(NOTCH1):c.7029G>C (p.Gln2343His)
NM_017617.5(NOTCH1):c.7036A>G (p.Met2346Val)
NM_017617.5(NOTCH1):c.7039_7047del (p.Val2347_Pro2349del)
NM_017617.5(NOTCH1):c.7042G>A (p.Gly2348Ser)
NM_017617.5(NOTCH1):c.7045C>G (p.Pro2349Ala) rs1390427898
NM_017617.5(NOTCH1):c.705C>T (p.Pro235=) rs905803751
NM_017617.5(NOTCH1):c.7065T>C (p.Ala2355=)
NM_017617.5(NOTCH1):c.7069A>T (p.Ser2357Cys)
NM_017617.5(NOTCH1):c.7071C>T (p.Ser2357=) rs61751487
NM_017617.5(NOTCH1):c.7072G>A (p.Ala2358Thr) rs780869345
NM_017617.5(NOTCH1):c.7080C>T (p.Ser2360=)
NM_017617.5(NOTCH1):c.7098G>A (p.Gln2366=)
NM_017617.5(NOTCH1):c.7110C>A (p.Ser2370Arg)
NM_017617.5(NOTCH1):c.7119G>A (p.Leu2373=)
NM_017617.5(NOTCH1):c.7120G>T (p.Ala2374Ser)
NM_017617.5(NOTCH1):c.7121C>T (p.Ala2374Val) rs2133316248
NM_017617.5(NOTCH1):c.7126C>A (p.Gln2376Lys) rs767497870
NM_017617.5(NOTCH1):c.7135C>T (p.Leu2379=)
NM_017617.5(NOTCH1):c.7138G>C (p.Val2380Leu) rs769693988
NM_017617.5(NOTCH1):c.7145C>T (p.Thr2382Ile) rs1564567924
NM_017617.5(NOTCH1):c.7147C>T (p.Gln2383Ter) rs759362012
NM_017617.5(NOTCH1):c.715G>A (p.Val239Ile)
NM_017617.5(NOTCH1):c.7175T>A (p.Met2392Lys) rs1036612594
NM_017617.5(NOTCH1):c.7175T>C (p.Met2392Thr) rs1036612594
NM_017617.5(NOTCH1):c.7177C>G (p.Gln2393Glu)
NM_017617.5(NOTCH1):c.7178A>G (p.Gln2393Arg) rs1842918022
NM_017617.5(NOTCH1):c.7193A>G (p.Gln2398Arg) rs1564567879
NM_017617.5(NOTCH1):c.7198G>A (p.Ala2400Thr) rs1842917839
NM_017617.5(NOTCH1):c.7209G>C (p.Gln2403His) rs61751486
NM_017617.5(NOTCH1):c.721C>T (p.His241Tyr)
NM_017617.5(NOTCH1):c.7222C>G (p.Leu2408Val)
NM_017617.5(NOTCH1):c.7230G>A (p.Pro2410=) rs199839390
NM_017617.5(NOTCH1):c.7230G>T (p.Pro2410=) rs199839390
NM_017617.5(NOTCH1):c.7232CAC[4] (p.Pro2415del) rs762336270
NM_017617.5(NOTCH1):c.7232CAC[6] (p.Pro2415dup) rs762336270
NM_017617.5(NOTCH1):c.7232CAC[7] (p.Pro2414_Pro2415dup) rs762336270
NM_017617.5(NOTCH1):c.7235C>G (p.Pro2412Arg) rs1842916921
NM_017617.5(NOTCH1):c.7241C>T (p.Pro2414Leu)
NM_017617.5(NOTCH1):c.7251G>T (p.Pro2417=) rs368498380
NM_017617.5(NOTCH1):c.7261G>T (p.Val2421Leu)
NM_017617.5(NOTCH1):c.726G>A (p.Glu242=) rs1843394434
NM_017617.5(NOTCH1):c.7279G>C (p.Gly2427Arg)
NM_017617.5(NOTCH1):c.7311G>T (p.Glu2437Asp) rs886039031
NM_017617.5(NOTCH1):c.7312C>T (p.Pro2438Ser)
NM_017617.5(NOTCH1):c.7314G>A (p.Pro2438=)
NM_017617.5(NOTCH1):c.7326C>T (p.Asp2442=)
NM_017617.5(NOTCH1):c.7327G>T (p.Val2443Leu) rs768311067
NM_017617.5(NOTCH1):c.7355C>T (p.Ala2452Val)
NM_017617.5(NOTCH1):c.736C>T (p.Leu246=)
NM_017617.5(NOTCH1):c.7377G>A (p.Gln2459=)
NM_017617.5(NOTCH1):c.7382G>T (p.Ser2461Ile) rs750245108
NM_017617.5(NOTCH1):c.7389C>T (p.Ala2463=)
NM_017617.5(NOTCH1):c.7402C>A (p.Leu2468Met) rs2133315021
NM_017617.5(NOTCH1):c.7405C>T (p.Pro2469Ser)
NM_017617.5(NOTCH1):c.7407A>G (p.Pro2469=)
NM_017617.5(NOTCH1):c.7416G>T (p.Leu2472=)
NM_017617.5(NOTCH1):c.7417del (p.Val2473fs) rs2133314943
NM_017617.5(NOTCH1):c.742+12C>A
NM_017617.5(NOTCH1):c.742+12_742+19del
NM_017617.5(NOTCH1):c.742+13G>A
NM_017617.5(NOTCH1):c.742+15T>C
NM_017617.5(NOTCH1):c.7426G>A (p.Val2476Met) rs763785541
NM_017617.5(NOTCH1):c.743-1G>T rs587777735
NM_017617.5(NOTCH1):c.7455C>G (p.Pro2485=)
NM_017617.5(NOTCH1):c.7461G>A (p.Gln2487=) rs1248949192
NM_017617.5(NOTCH1):c.7463A>G (p.His2488Arg)
NM_017617.5(NOTCH1):c.7475C>T (p.Ser2492Leu)
NM_017617.5(NOTCH1):c.747C>T (p.Phe249=) rs2133372901
NM_017617.5(NOTCH1):c.7482G>A (p.Val2494=) rs1268405497
NM_017617.5(NOTCH1):c.748A>T (p.Thr250Ser) rs551150550
NM_017617.5(NOTCH1):c.7506A>G (p.Leu2502=)
NM_017617.5(NOTCH1):c.7507C>T (p.Gln2503Ter)
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.7510G>A (p.Val2504Met) rs2133314443
NM_017617.5(NOTCH1):c.7529T>C (p.Leu2510Pro) rs1554826340
NM_017617.5(NOTCH1):c.752G>T (p.Gly251Val) rs749943647
NM_017617.5(NOTCH1):c.7532C>A (p.Thr2511Asn)
NM_017617.5(NOTCH1):c.753C>T (p.Gly251=)
NM_017617.5(NOTCH1):c.7549C>T (p.Pro2517Ser)
NM_017617.5(NOTCH1):c.7569G>C (p.Ser2523=) rs534623042
NM_017617.5(NOTCH1):c.7575G>A (p.Pro2525=) rs375576856
NM_017617.5(NOTCH1):c.7575G>C (p.Pro2525=) rs375576856
NM_017617.5(NOTCH1):c.7599C>T (p.Ser2533=)
NM_017617.5(NOTCH1):c.760T>C (p.Cys254Arg)
NM_017617.5(NOTCH1):c.7614C>T (p.Ser2538=)
NM_017617.5(NOTCH1):c.7622C>T (p.Thr2541Ile)
NM_017617.5(NOTCH1):c.763_773del (p.Glu255fs) rs2133372831
NM_017617.5(NOTCH1):c.7641C>A (p.Ile2547=) rs370124241
NM_017617.5(NOTCH1):c.7646G>A (p.Arg2549His)
NM_017617.5(NOTCH1):c.7652C>T (p.Pro2551Leu)
NM_017617.5(NOTCH1):c.7657G>A (p.Ala2553Thr) rs182522714
NM_017617.5(NOTCH1):c.7658C>T (p.Ala2553Val) rs2133313653
NM_017617.5(NOTCH1):c.769A>G (p.Asn257Asp)
NM_017617.5(NOTCH1):c.774C>T (p.Ile258=) rs764542894
NM_017617.5(NOTCH1):c.781T>C (p.Cys261Arg) rs2133372814
NM_017617.5(NOTCH1):c.788G>A (p.Gly263Glu)
NM_017617.5(NOTCH1):c.788G>T (p.Gly263Val)
NM_017617.5(NOTCH1):c.792C>T (p.Asn264=) rs776687224
NM_017617.5(NOTCH1):c.794_797delinsCC (p.Asn265fs) rs1554730184
NM_017617.5(NOTCH1):c.804C>A (p.Asn268Lys)
NM_017617.5(NOTCH1):c.804C>T (p.Asn268=) rs774222164
NM_017617.5(NOTCH1):c.81C>T (p.Pro27=)
NM_017617.5(NOTCH1):c.824G>C (p.Gly275Ala)
NM_017617.5(NOTCH1):c.829A>G (p.Asn277Asp)
NM_017617.5(NOTCH1):c.830A>G (p.Asn277Ser)
NM_017617.5(NOTCH1):c.844C>T (p.Arg282Cys)
NM_017617.5(NOTCH1):c.855A>G (p.Pro285=)
NM_017617.5(NOTCH1):c.865+11G>A
NM_017617.5(NOTCH1):c.865+18C>A
NM_017617.5(NOTCH1):c.865+2C>T rs1164392989
NM_017617.5(NOTCH1):c.865+4C>T rs527248111
NM_017617.5(NOTCH1):c.865+8T>C
NM_017617.5(NOTCH1):c.866-16C>G
NM_017617.5(NOTCH1):c.866-9T>C rs2133371738
NM_017617.5(NOTCH1):c.866G>C (p.Gly289Ala)
NM_017617.5(NOTCH1):c.880G>A (p.Glu294Lys)
NM_017617.5(NOTCH1):c.891C>T (p.Asp297=)
NM_017617.5(NOTCH1):c.892G>C (p.Glu298Gln) rs1060502232
NM_017617.5(NOTCH1):c.900G>C (p.Gln300His)
NM_017617.5(NOTCH1):c.901C>T (p.Leu301=) rs1564200379
NM_017617.5(NOTCH1):c.902T>C (p.Leu301Pro)
NM_017617.5(NOTCH1):c.912T>C (p.Asn304=) rs1060504522
NM_017617.5(NOTCH1):c.924C>G (p.Asn308Lys)
NM_017617.5(NOTCH1):c.931A>C (p.Thr311Pro) rs202145498
NM_017617.5(NOTCH1):c.961T>C (p.Cys321Arg) rs1843318767
NM_017617.5(NOTCH1):c.98A>G (p.Asn33Ser) rs2133406228
NM_017617.5(NOTCH1):c.997A>C (p.Ser333Arg) rs895972070
Single allele

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.