ClinVar Miner

List of variants in gene NOTCH1 reported as likely benign for Adams-Oliver syndrome 5

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1274
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HGVS dbSNP gnomAD frequency
NM_017617.5(NOTCH1):c.5011G>A (p.Val1671Ile) rs2229968 0.00898
NM_017617.5(NOTCH1):c.3767C>T (p.Pro1256Leu) rs80340744 0.00645
NM_017617.5(NOTCH1):c.64C>T (p.Pro22Ser) rs114832250 0.00587
NM_017617.5(NOTCH1):c.1042G>C (p.Ala348Pro) rs201236538 0.00418
NM_017617.5(NOTCH1):c.5018+20C>T rs139772121 0.00320
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp) rs201620358 0.00223
NM_017617.5(NOTCH1):c.4028C>T (p.Ala1343Val) rs183156491 0.00171
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.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.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.1389C>T (p.Asn463=) rs61733293 0.00068
NM_017617.5(NOTCH1):c.4898G>A (p.Arg1633His) rs375018022 0.00064
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.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.311A>G (p.Asn104Ser) rs199654211 0.00056
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.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.1553C>T (p.Thr518Met) rs377535397 0.00044
NM_017617.5(NOTCH1):c.4262A>G (p.Asn1421Ser) rs76473337 0.00044
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.4014G>A (p.Ala1338=) rs377217445 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.2674C>T (p.Arg892Cys) rs578228721 0.00031
NM_017617.5(NOTCH1):c.7223T>C (p.Leu2408Pro) rs767728582 0.00031
NM_017617.5(NOTCH1):c.2434G>A (p.Gly812Arg) rs201620755 0.00029
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.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.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.1903+14C>T rs370541870 0.00017
NM_017617.5(NOTCH1):c.2427C>T (p.Asp809=) rs775162462 0.00017
NM_017617.5(NOTCH1):c.454G>A (p.Gly152Ser) rs750242131 0.00017
NM_017617.5(NOTCH1):c.2148G>A (p.Glu716=) rs376468003 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.4866C>T (p.Arg1622=) rs772314400 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.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.4905C>T (p.Ala1635=) rs751446074 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.1099+20G>A rs376139196 0.00012
NM_017617.5(NOTCH1):c.1146C>T (p.Asn382=) rs368665838 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.2863C>T (p.Arg955Cys) rs370797169 0.00011
NM_017617.5(NOTCH1):c.4015-10T>C rs989085577 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.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.4458C>G (p.Pro1486=) rs747236263 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.695C>A (p.Thr232Asn) rs869025493 0.00010
NM_017617.5(NOTCH1):c.1904-13G>A rs371069516 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.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.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.7645C>T (p.Arg2549Cys) rs200893930 0.00009
NM_017617.5(NOTCH1):c.1870G>A (p.Ala624Thr) rs372771179 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.5018+13C>T rs752508890 0.00008
NM_017617.5(NOTCH1):c.516C>T (p.Gly172=) rs377685034 0.00008
NM_017617.5(NOTCH1):c.5224G>T (p.Ala1742Ser) rs760669267 0.00008
NM_017617.5(NOTCH1):c.2014+16C>T rs199814619 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.3901+19C>T rs373752718 0.00007
NM_017617.5(NOTCH1):c.4101G>A (p.Pro1367=) rs374921637 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.4809C>T (p.Asn1603=) rs370523171 0.00007
NM_017617.5(NOTCH1):c.5682C>T (p.Gly1894=) rs541372272 0.00007
NM_017617.5(NOTCH1):c.1026C>T (p.Ala342=) rs755895298 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.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.2640C>T (p.His880=) rs374946182 0.00006
NM_017617.5(NOTCH1):c.2741-12G>A rs370769571 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.339C>T (p.Asn113=) rs369947231 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.4718C>T (p.Thr1573Met) rs573864607 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.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.7251G>A (p.Pro2417=) rs368498380 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.1670-8C>T rs527374781 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.2744C>T (p.Pro915Leu) rs755058802 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.4027G>A (p.Ala1343Thr) rs369654090 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.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.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.1272G>A (p.Glu424=) rs377342874 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.1903+10C>G rs375704312 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.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.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.3513C>T (p.Cys1171=) rs758860870 0.00004
NM_017617.5(NOTCH1):c.3732C>T (p.Cys1244=) rs746262173 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.4143C>T (p.Pro1381=) rs539950718 0.00004
NM_017617.5(NOTCH1):c.4185C>T (p.Asn1395=) rs749570626 0.00004
NM_017617.5(NOTCH1):c.4344G>A (p.Ala1448=) rs763497791 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.5070G>A (p.Ser1690=) rs370200858 0.00004
NM_017617.5(NOTCH1):c.5168-4G>A rs751709616 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.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.6384G>A (p.Pro2128=) rs746762310 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.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.7569G>A (p.Ser2523=) rs534623042 0.00004
NM_017617.5(NOTCH1):c.7641C>T (p.Ile2547=) rs370124241 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.1446C>T (p.Tyr482=) rs757373430 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.1988A>T (p.Glu663Val) rs1468283318 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.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.2654A>G (p.Gln885Arg) rs764327751 0.00003
NM_017617.5(NOTCH1):c.2665G>A (p.Gly889Ser) rs557590721 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.3171+12G>A rs753242532 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.3552C>T (p.Ile1184=) rs773375573 0.00003
NM_017617.5(NOTCH1):c.3583G>A (p.Gly1195Arg) rs777194812 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.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.4015-7C>T rs761783451 0.00003
NM_017617.5(NOTCH1):c.4077C>T (p.Asn1359=) rs775108554 0.00003
NM_017617.5(NOTCH1):c.411G>A (p.Ser137=) rs560826996 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.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.500C>T (p.Pro167Leu) rs370951369 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.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.5499C>T (p.Asp1833=) rs754075361 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.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.6351C>A (p.Asn2117Lys) rs755509796 0.00003
NM_017617.5(NOTCH1):c.6753C>T (p.Ala2251=) rs542875894 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.742+20G>A rs754496640 0.00003
NM_017617.5(NOTCH1):c.7431C>T (p.Thr2477=) rs748244353 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.1044C>T (p.Ala348=) rs749267756 0.00002
NM_017617.5(NOTCH1):c.1221G>A (p.Pro407=) rs367567190 0.00002
NM_017617.5(NOTCH1):c.1256-15G>A rs200086842 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.1555+18C>G rs376982757 0.00002
NM_017617.5(NOTCH1):c.1677G>A (p.Thr559=) rs1391226025 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.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+7G>A rs562353347 0.00002
NM_017617.5(NOTCH1):c.2112C>T (p.Cys704=) rs757495549 0.00002
NM_017617.5(NOTCH1):c.2217C>T (p.Cys739=) rs752226005 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.2468-20C>T rs756381967 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.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.3325+9C>A rs1413516206 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.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.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.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.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.5167+19C>T rs751046078 0.00002
NM_017617.5(NOTCH1):c.5190G>A (p.Pro1730=) rs369854704 0.00002
NM_017617.5(NOTCH1):c.5340G>A (p.Lys1780=) rs148187717 0.00002
NM_017617.5(NOTCH1):c.5639-17C>T rs749795813 0.00002
NM_017617.5(NOTCH1):c.5830G>A (p.Ala1944Thr) rs371414501 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.6321C>T (p.His2107=) rs532201830 0.00002
NM_017617.5(NOTCH1):c.6366G>A (p.Pro2122=) rs762003410 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.6948C>T (p.Ser2316=) rs771142030 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.7278C>T (p.Ser2426=) rs757461161 0.00002
NM_017617.5(NOTCH1):c.7284C>T (p.His2428=) rs1248029549 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.823G>A (p.Gly275Ser) rs371333249 0.00002
NM_017617.5(NOTCH1):c.948C>T (p.His316=) rs904456632 0.00002
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.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.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.123T>C (p.Asn41=) rs1207676067 0.00001
NM_017617.5(NOTCH1):c.1255+9C>T rs775401272 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.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.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.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.1581C>T (p.Tyr527=) rs1299929890 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.1669+12C>T rs780649182 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.1761C>T (p.Phe587=) rs1176092277 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.1904-4T>C rs552137707 0.00001
NM_017617.5(NOTCH1):c.1904-7C>T rs771097212 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.1977C>A (p.Ile659=) rs766577980 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.2047G>A (p.Ala683Thr) rs756434709 0.00001
NM_017617.5(NOTCH1):c.2115C>T (p.Pro705=) rs777838108 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.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+9C>T rs751315476 0.00001
NM_017617.5(NOTCH1):c.2261A>G (p.Asn754Ser) rs761072761 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.2464A>G (p.Thr822Ala) rs1245057191 0.00001
NM_017617.5(NOTCH1):c.2468-4G>A rs752696927 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.2588-15C>T rs757061203 0.00001
NM_017617.5(NOTCH1):c.2611A>G (p.Asn871Asp) rs200235006 0.00001
NM_017617.5(NOTCH1):c.2631G>A (p.Pro877=) rs777573424 0.00001
NM_017617.5(NOTCH1):c.2643C>T (p.Gly881=) rs750777328 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.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.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.2916C>T (p.Pro972=) rs754724517 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.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.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.3172-7T>C rs370144650 0.00001
NM_017617.5(NOTCH1):c.3190G>A (p.Asp1064Asn) rs375931404 0.00001
NM_017617.5(NOTCH1):c.3213C>T (p.Gly1071=) rs528993886 0.00001
NM_017617.5(NOTCH1):c.3231C>T (p.Thr1077=) rs781656729 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.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.3469G>A (p.Gly1157Arg) rs549630973 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.3514G>A (p.Val1172Met) rs1234358553 0.00001
NM_017617.5(NOTCH1):c.351C>T (p.Cys117=) rs768642611 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.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.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.3663C>T (p.Asn1221=) rs780527525 0.00001
NM_017617.5(NOTCH1):c.3669C>T (p.Asp1223=) rs781546439 0.00001
NM_017617.5(NOTCH1):c.3684C>T (p.Pro1228=) rs753711100 0.00001
NM_017617.5(NOTCH1):c.3693C>T (p.Pro1231=) rs1330174392 0.00001
NM_017617.5(NOTCH1):c.3723C>T (p.Asn1241=) rs369637862 0.00001
NM_017617.5(NOTCH1):c.3862G>A (p.Val1288Ile) rs752264096 0.00001
NM_017617.5(NOTCH1):c.3874C>T (p.His1292Tyr) rs372348365 0.00001
NM_017617.5(NOTCH1):c.3908G>A (p.Arg1303His) rs768775024 0.00001
NM_017617.5(NOTCH1):c.3960C>T (p.Gly1320=) rs1843089049 0.00001
NM_017617.5(NOTCH1):c.3991G>A (p.Gly1331Arg) rs769908800 0.00001
NM_017617.5(NOTCH1):c.4014+8C>G rs748956877 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.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.4197C>T (p.Asn1399=) rs989398598 0.00001
NM_017617.5(NOTCH1):c.4263C>T (p.Asn1421=) rs547687521 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.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.4425C>T (p.Asp1475=) rs371948072 0.00001
NM_017617.5(NOTCH1):c.4428C>T (p.Gly1476=) rs765751888 0.00001
NM_017617.5(NOTCH1):c.447C>T (p.Cys149=) rs1042034779 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.4587-9C>T rs1390687627 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.4709C>T (p.Ala1570Val) rs199860726 0.00001
NM_017617.5(NOTCH1):c.4710G>A (p.Ala1570=) rs773978978 0.00001
NM_017617.5(NOTCH1):c.4719G>A (p.Thr1573=) rs775105774 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.4880G>A (p.Arg1627His) rs946083212 0.00001
NM_017617.5(NOTCH1):c.4919C>T (p.Ala1640Val) rs1183355532 0.00001
NM_017617.5(NOTCH1):c.4959C>G (p.Leu1653=) rs773609261 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.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.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.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.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.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.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.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.5652G>A (p.Pro1884=) rs766279504 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.5805C>T (p.Ala1935=) rs774693459 0.00001
NM_017617.5(NOTCH1):c.612C>T (p.Cys204=) rs1208829487 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.6223G>A (p.Glu2075Lys) rs549258808 0.00001
NM_017617.5(NOTCH1):c.6227C>T (p.Thr2076Ile) rs1022510242 0.00001
NM_017617.5(NOTCH1):c.6237G>A (p.Val2079=) rs1246059704 0.00001
NM_017617.5(NOTCH1):c.6259C>T (p.Arg2087Trp) rs373806373 0.00001
NM_017617.5(NOTCH1):c.6350A>C (p.Asn2117Thr) rs765820020 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.6475C>T (p.Arg2159Cys) rs371742334 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.6645G>A (p.Ser2215=) rs745339419 0.00001
NM_017617.5(NOTCH1):c.6756G>A (p.Lys2252=) rs1842926814 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.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.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.6915T>C (p.Asn2305=) rs1223420495 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.7047G>A (p.Pro2349=) rs775336930 0.00001
NM_017617.5(NOTCH1):c.7075C>T (p.Leu2359=) rs374362224 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.7134C>T (p.His2378=) rs775424890 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.7161A>T (p.Pro2387=) rs1413339098 0.00001
NM_017617.5(NOTCH1):c.7189C>T (p.Leu2397=) rs374789141 0.00001
NM_017617.5(NOTCH1):c.7315A>C (p.Ser2439Arg) rs942055234 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.7554C>T (p.Asp2518=) rs771410115 0.00001
NM_017617.5(NOTCH1):c.7584C>T (p.Asn2528=) rs778937268 0.00001
NM_017617.5(NOTCH1):c.7590C>T (p.Ser2530=) rs371067732 0.00001
NM_017617.5(NOTCH1):c.7667A>G (p.Ter2556=) rs190691338 0.00001
NM_017617.5(NOTCH1):c.822C>T (p.Asp274=) rs775275739 0.00001
NM_017617.5(NOTCH1):c.865+19G>A rs775120395 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
NM_017617.5(NOTCH1):c.1005C>A (p.Asn335Lys)
NM_017617.5(NOTCH1):c.1014C>T (p.Asp338=)
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.1068C>T (p.Ser356=)
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.1110C>T (p.Cys370=)
NM_017617.5(NOTCH1):c.1125A>C (p.Ala375=) rs371954544
NM_017617.5(NOTCH1):c.1218C>G (p.Gly406=)
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.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.1386G>A (p.Gln462=) rs2133368484
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.1441+11C>A rs376506127
NM_017617.5(NOTCH1):c.1441+11del
NM_017617.5(NOTCH1):c.1442-12C>T rs1241878638
NM_017617.5(NOTCH1):c.1442-17_1442-16del
NM_017617.5(NOTCH1):c.1467C>G (p.Val489=)
NM_017617.5(NOTCH1):c.1527C>T (p.Ile509=) rs2133367383
NM_017617.5(NOTCH1):c.1530T>C (p.Asn510=)
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.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.1591G>A (p.Glu531Lys)
NM_017617.5(NOTCH1):c.1599C>A (p.Ala533=) rs1304388033
NM_017617.5(NOTCH1):c.1652C>T (p.Thr551Ile)
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.168A>G (p.Arg56=)
NM_017617.5(NOTCH1):c.1701C>A (p.Ile567=) rs773932034
NM_017617.5(NOTCH1):c.1702G>A (p.Asp568Asn) rs562413261
NM_017617.5(NOTCH1):c.1713C>T (p.Asp571=)
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.1752C>T (p.Val584=) rs902251832
NM_017617.5(NOTCH1):c.1755C>T (p.Ala585=)
NM_017617.5(NOTCH1):c.1756A>C (p.Thr586Pro) rs764854903
NM_017617.5(NOTCH1):c.1770C>G (p.Leu590=) rs949220276
NM_017617.5(NOTCH1):c.1794C>T (p.His598=) rs1261287469
NM_017617.5(NOTCH1):c.1809C>T (p.Asn603=)
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.1857G>A (p.Gln619=)
NM_017617.5(NOTCH1):c.186G>A (p.Pro62=) rs374320445
NM_017617.5(NOTCH1):c.1899C>G (p.Thr633=)
NM_017617.5(NOTCH1):c.1903+14C>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.1904-9C>T rs2133362915
NM_017617.5(NOTCH1):c.1915G>A (p.Glu639Lys)
NM_017617.5(NOTCH1):c.1923C>T (p.Asn641=)
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.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.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.2056C>T (p.Pro686Ser)
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.2181C>T (p.His727=)
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.2218G>T (p.Asp740Tyr)
NM_017617.5(NOTCH1):c.2291A>G (p.Asn764Ser) rs1454630791
NM_017617.5(NOTCH1):c.2296G>A (p.Gly766Ser)
NM_017617.5(NOTCH1):c.2318G>T (p.Ser773Ile)
NM_017617.5(NOTCH1):c.2326G>T (p.Val776Leu) rs377286829
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.2346C>A (p.Gly782=)
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.240A>G (p.Arg80=)
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.2439C>T (p.Tyr813=) rs1057515422
NM_017617.5(NOTCH1):c.2448C>T (p.Asn816=) rs1422745093
NM_017617.5(NOTCH1):c.2460C>G (p.Pro820=)
NM_017617.5(NOTCH1):c.2468-10C>T rs2133355112
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.2496G>A (p.Pro832=) rs61751551
NM_017617.5(NOTCH1):c.2514C>T (p.Cys838=) rs1554728839
NM_017617.5(NOTCH1):c.2521G>C (p.Gly841Arg)
NM_017617.5(NOTCH1):c.2529G>A (p.Glu843=) rs1191070636
NM_017617.5(NOTCH1):c.2538A>G (p.Gln846=)
NM_017617.5(NOTCH1):c.2574C>T (p.Pro858=) rs1589063028
NM_017617.5(NOTCH1):c.2587+19C>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.2631G>C (p.Pro877=)
NM_017617.5(NOTCH1):c.2661C>T (p.Thr887=)
NM_017617.5(NOTCH1):c.2670C>T (p.Gly890=)
NM_017617.5(NOTCH1):c.2673C>T (p.Tyr891=)
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.2705G>A (p.Arg902His) rs373075482
NM_017617.5(NOTCH1):c.271C>T (p.Leu91=)
NM_017617.5(NOTCH1):c.2740+12C>A
NM_017617.5(NOTCH1):c.2740+12C>G
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.2741-7C>T
NM_017617.5(NOTCH1):c.2757G>A (p.Gly919=) rs1843152166
NM_017617.5(NOTCH1):c.2786C>A (p.Ala929Asp) rs1218875928
NM_017617.5(NOTCH1):c.2794G>A (p.Asp932Asn)
NM_017617.5(NOTCH1):c.2802G>A (p.Leu934=)
NM_017617.5(NOTCH1):c.2811C>T (p.Phe937=) rs2133351104
NM_017617.5(NOTCH1):c.2844G>A (p.Glu948=) rs2133350962
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.2871G>T (p.Gly957=)
NM_017617.5(NOTCH1):c.2883G>A (p.Thr961=)
NM_017617.5(NOTCH1):c.2883G>T (p.Thr961=) rs774785001
NM_017617.5(NOTCH1):c.2896A>G (p.Ser966Gly)
NM_017617.5(NOTCH1):c.289C>T (p.Leu97Phe)
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>C (p.Gly977=) rs767071793
NM_017617.5(NOTCH1):c.2935C>T (p.His979Tyr) rs1380298048
NM_017617.5(NOTCH1):c.2958C>T (p.Asp986=) rs775739575
NM_017617.5(NOTCH1):c.2969+13C>G
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.2970-9C>G
NM_017617.5(NOTCH1):c.3000C>T (p.Asp1000=)
NM_017617.5(NOTCH1):c.3036C>T (p.Gly1012=)
NM_017617.5(NOTCH1):c.3042G>C (p.Thr1014=)
NM_017617.5(NOTCH1):c.304C>T (p.Leu102=)
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.3129C>T (p.Tyr1043=) rs752650941
NM_017617.5(NOTCH1):c.3150C>A (p.Gly1050=) rs1060504523
NM_017617.5(NOTCH1):c.3156T>G (p.Thr1052=)
NM_017617.5(NOTCH1):c.3160C>T (p.Pro1054Ser)
NM_017617.5(NOTCH1):c.3171+11C>T
NM_017617.5(NOTCH1):c.3171+14C>G
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.3192C>T (p.Asp1064=) rs587778565
NM_017617.5(NOTCH1):c.3197C>T (p.Ser1066Leu)
NM_017617.5(NOTCH1):c.3261C>A (p.Ser1087Arg)
NM_017617.5(NOTCH1):c.3262G>A (p.Gly1088Ser) rs531420022
NM_017617.5(NOTCH1):c.3283G>A (p.Asp1095Asn)
NM_017617.5(NOTCH1):c.3291C>T (p.Pro1097=) rs1234909362
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.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.3327T>C (p.Gly1109=)
NM_017617.5(NOTCH1):c.3345G>T (p.Leu1115=) rs752440904
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.3426T>C (p.Cys1142=)
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+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.3542C>T (p.Ser1181Phe)
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.354C>T (p.Asp118=)
NM_017617.5(NOTCH1):c.3579G>A (p.Gln1193=) rs61751544
NM_017617.5(NOTCH1):c.3585G>A (p.Gly1195=) rs1843105001
NM_017617.5(NOTCH1):c.3644-14A>G
NM_017617.5(NOTCH1):c.3660C>T (p.Ile1220=)
NM_017617.5(NOTCH1):c.3667G>A (p.Asp1223Asn)
NM_017617.5(NOTCH1):c.3693C>G (p.Pro1231=)
NM_017617.5(NOTCH1):c.3768G>T (p.Pro1256=) rs779987984
NM_017617.5(NOTCH1):c.3813C>T (p.Cys1271=)
NM_017617.5(NOTCH1):c.3819C>G (p.Ser1273=) rs2133343514
NM_017617.5(NOTCH1):c.3833C>T (p.Ala1278Val)
NM_017617.5(NOTCH1):c.3853G>T (p.Val1285Leu) rs756972680
NM_017617.5(NOTCH1):c.387C>T (p.Cys129=)
NM_017617.5(NOTCH1):c.3891T>C (p.Ala1297=)
NM_017617.5(NOTCH1):c.3901+20G>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.3915G>A (p.Glu1305=) rs1554728133
NM_017617.5(NOTCH1):c.4015-19T>C
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.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.4049G>A (p.Arg1350His) 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.4098C>G (p.Gly1366=) rs2133340927
NM_017617.5(NOTCH1):c.411G>T (p.Ser137=) rs560826996
NM_017617.5(NOTCH1):c.4128C>G (p.Gly1376=) rs1292953898
NM_017617.5(NOTCH1):c.4137G>C (p.Thr1379=) rs762733162
NM_017617.5(NOTCH1):c.4144G>A (p.Glu1382Lys)
NM_017617.5(NOTCH1):c.4149C>T (p.Cys1383=) rs1843072777
NM_017617.5(NOTCH1):c.4173C>T (p.Cys1391=) rs1589058923
NM_017617.5(NOTCH1):c.4212G>A (p.Glu1404=) rs2133340344
NM_017617.5(NOTCH1):c.4236C>T (p.Tyr1412=)
NM_017617.5(NOTCH1):c.4266G>A (p.Gly1422=)
NM_017617.5(NOTCH1):c.4287C>T (p.Asp1429=) rs2133339971
NM_017617.5(NOTCH1):c.4297G>A (p.Gly1433Arg)
NM_017617.5(NOTCH1):c.429G>T (p.Pro143=) rs757406877
NM_017617.5(NOTCH1):c.4311G>T (p.Gly1437=)
NM_017617.5(NOTCH1):c.4335C>T (p.Ile1445=) rs373960609
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.4374G>C (p.Ala1458=)
NM_017617.5(NOTCH1):c.4383G>A (p.Lys1461=)
NM_017617.5(NOTCH1):c.4389C>T (p.Cys1463=)
NM_017617.5(NOTCH1):c.438C>T (p.Ser146=) rs1589072128
NM_017617.5(NOTCH1):c.4443C>T (p.Leu1481=) rs2133339138
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.4482G>A (p.Leu1494=)
NM_017617.5(NOTCH1):c.4482G>T (p.Leu1494=)
NM_017617.5(NOTCH1):c.4497C>T (p.Tyr1499=) rs1843064502
NM_017617.5(NOTCH1):c.4548C>G (p.Phe1516Leu)
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.4587-10C>A
NM_017617.5(NOTCH1):c.4587-10C>T
NM_017617.5(NOTCH1):c.4587-12C>T
NM_017617.5(NOTCH1):c.4587-18G>A
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.4590C>G (p.Pro1530=) rs1357545431
NM_017617.5(NOTCH1):c.4593G>A (p.Leu1531=)
NM_017617.5(NOTCH1):c.4624G>A (p.Asp1542Asn) rs1339004050
NM_017617.5(NOTCH1):c.4659G>A (p.Glu1553=)
NM_017617.5(NOTCH1):c.4664A>T (p.Glu1555Val)
NM_017617.5(NOTCH1):c.4720C>T (p.Leu1574=) rs2133337220
NM_017617.5(NOTCH1):c.4749G>A (p.Glu1583=)
NM_017617.5(NOTCH1):c.475G>C (p.Glu159Gln)
NM_017617.5(NOTCH1):c.4761C>T (p.Asn1587=) rs777947269
NM_017617.5(NOTCH1):c.4780C>T (p.Arg1594Trp)
NM_017617.5(NOTCH1):c.4788C>T (p.Leu1596=) rs2133336800
NM_017617.5(NOTCH1):c.4791C>T (p.Ser1597=)
NM_017617.5(NOTCH1):c.4794C>G (p.Arg1598=) rs558708604
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.4857C>T (p.Tyr1619=)
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.4878G>A (p.Leu1626=)
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.4911C>G (p.Gly1637=)
NM_017617.5(NOTCH1):c.4917C>A (p.Ala1639=)
NM_017617.5(NOTCH1):c.4932G>C (p.Leu1644=)
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.4971C>T (p.Ser1657=) rs367838230
NM_017617.5(NOTCH1):c.5016C>T (p.Arg1672=) rs1251609154
NM_017617.5(NOTCH1):c.5018+12C>T rs1225398496
NM_017617.5(NOTCH1):c.5019-10G>A
NM_017617.5(NOTCH1):c.5019-18C>T
NM_017617.5(NOTCH1):c.5019-20CT[2] rs748274615
NM_017617.5(NOTCH1):c.5019-9T>C rs1589057393
NM_017617.5(NOTCH1):c.501A>T (p.Pro167=) rs1554730657
NM_017617.5(NOTCH1):c.5032C>T (p.Leu1678=)
NM_017617.5(NOTCH1):c.5064C>G (p.Ala1688=)
NM_017617.5(NOTCH1):c.5073G>C (p.Gln1691His) rs61751538
NM_017617.5(NOTCH1):c.5119G>A (p.Ala1707Thr)
NM_017617.5(NOTCH1):c.5124G>A (p.Ser1708=) rs35980907
NM_017617.5(NOTCH1):c.5154C>A (p.Ile1718=)
NM_017617.5(NOTCH1):c.5155G>A (p.Glu1719Lys) rs750085425
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.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.5181G>A (p.Glu1727=)
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.5215G>A (p.Val1739Met) rs377294245
NM_017617.5(NOTCH1):c.5227G>A (p.Ala1743Thr)
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.5272C>T (p.Arg1758Cys)
NM_017617.5(NOTCH1):c.5281C>T (p.Arg1761Trp)
NM_017617.5(NOTCH1):c.5298G>A (p.Gln1766=)
NM_017617.5(NOTCH1):c.5307C>T (p.Phe1769=) rs1400804279
NM_017617.5(NOTCH1):c.5333C>T (p.Ala1778Val)
NM_017617.5(NOTCH1):c.5358C>T (p.Pro1786=)
NM_017617.5(NOTCH1):c.5370C>T (p.Asp1790=) rs2133330858
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.5385-7C>T
NM_017617.5(NOTCH1):c.5385-9A>G rs2133330218
NM_017617.5(NOTCH1):c.5388C>T (p.Pro1796=)
NM_017617.5(NOTCH1):c.5394G>A (p.Lys1798=)
NM_017617.5(NOTCH1):c.5438G>C (p.Trp1813Ser)
NM_017617.5(NOTCH1):c.5446G>A (p.Glu1816Lys)
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.5502G>C (p.Leu1834=) rs1259279311
NM_017617.5(NOTCH1):c.5532T>C (p.Thr1844=)
NM_017617.5(NOTCH1):c.553A>C (p.Lys185Gln)
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.5571C>T (p.Ala1857=)
NM_017617.5(NOTCH1):c.5605G>T (p.Ala1869Ser) rs200603539
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.5661C>T (p.Ile1887=) rs750185397
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.5717C>T (p.Ala1906Val)
NM_017617.5(NOTCH1):c.5733C>A (p.Ser1911=)
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.5772A>C (p.Thr1924=)
NM_017617.5(NOTCH1):c.5777G>T (p.Arg1926Leu) rs771407924
NM_017617.5(NOTCH1):c.580A>C (p.Thr194Pro) rs770333242
NM_017617.5(NOTCH1):c.5814C>T (p.Tyr1938=)
NM_017617.5(NOTCH1):c.5820C>T (p.Arg1940=)
NM_017617.5(NOTCH1):c.5907G>A (p.Val1969=)
NM_017617.5(NOTCH1):c.5919A>G (p.Ala1973=) rs781224907
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.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.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.6198T>C (p.Phe2066=)
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.62-4C>T
NM_017617.5(NOTCH1):c.62-5C>A
NM_017617.5(NOTCH1):c.6234G>A (p.Lys2078=) rs1485488069
NM_017617.5(NOTCH1):c.6252T>C (p.Phe2084=)
NM_017617.5(NOTCH1):c.6291G>T (p.Pro2097=) rs201987555
NM_017617.5(NOTCH1):c.6292C>T (p.Arg2098Cys)
NM_017617.5(NOTCH1):c.6300C>T (p.Ile2100=) rs773483690
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.636C>T (p.Gly212=) rs1843397551
NM_017617.5(NOTCH1):c.6387G>T (p.Leu2129=)
NM_017617.5(NOTCH1):c.6396G>A (p.Thr2132=) rs554843595
NM_017617.5(NOTCH1):c.6402C>T (p.Thr2134=) rs2133318771
NM_017617.5(NOTCH1):c.6423G>A (p.Ser2141=)
NM_017617.5(NOTCH1):c.6423G>T (p.Ser2141=)
NM_017617.5(NOTCH1):c.6450G>T (p.Lys2150Asn)
NM_017617.5(NOTCH1):c.6466A>G (p.Lys2156Glu)
NM_017617.5(NOTCH1):c.6480G>A (p.Lys2160=)
NM_017617.5(NOTCH1):c.6495C>T (p.Gly2165=)
NM_017617.5(NOTCH1):c.6496C>T (p.Leu2166=) rs2133318278
NM_017617.5(NOTCH1):c.651G>A (p.Arg217=)
NM_017617.5(NOTCH1):c.6532G>A (p.Ala2178Thr) rs1197184303
NM_017617.5(NOTCH1):c.6536G>A (p.Arg2179Gln) rs587778571
NM_017617.5(NOTCH1):c.6556G>A (p.Gly2186Ser)
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.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.6612G>A (p.Glu2204=)
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>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.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.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.6739C>T (p.Leu2247=) rs377165086
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.6771G>C (p.Ala2257=)
NM_017617.5(NOTCH1):c.6773T>C (p.Leu2258Pro)
NM_017617.5(NOTCH1):c.6819C>T (p.Leu2273=) rs778759745
NM_017617.5(NOTCH1):c.6852C>A (p.Thr2284=)
NM_017617.5(NOTCH1):c.6879C>T (p.Ala2293=) rs1015422139
NM_017617.5(NOTCH1):c.6880C>T (p.Leu2294=)
NM_017617.5(NOTCH1):c.6894G>A (p.Val2298=)
NM_017617.5(NOTCH1):c.6903C>T (p.Ser2301=) rs1842923327
NM_017617.5(NOTCH1):c.691G>A (p.Gly231Ser) rs1247729687
NM_017617.5(NOTCH1):c.6924C>T (p.Cys2308=) rs756653663
NM_017617.5(NOTCH1):c.6936C>T (p.Ser2312=) rs1190107678
NM_017617.5(NOTCH1):c.6966A>G (p.Gln2322=) rs1318983291
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.700C>T (p.Arg234Cys) rs567890045
NM_017617.5(NOTCH1):c.7011A>C (p.Thr2337=)
NM_017617.5(NOTCH1):c.7028A>T (p.Gln2343Leu)
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.7071C>T (p.Ser2357=) rs61751487
NM_017617.5(NOTCH1):c.7080C>T (p.Ser2360=)
NM_017617.5(NOTCH1):c.7098G>A (p.Gln2366=)
NM_017617.5(NOTCH1):c.7119G>A (p.Leu2373=)
NM_017617.5(NOTCH1):c.7135C>T (p.Leu2379=)
NM_017617.5(NOTCH1):c.721C>T (p.His241Tyr)
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.7251G>T (p.Pro2417=) rs368498380
NM_017617.5(NOTCH1):c.726G>A (p.Glu242=) rs1843394434
NM_017617.5(NOTCH1):c.7312C>T (p.Pro2438Ser)
NM_017617.5(NOTCH1):c.7314G>A (p.Pro2438=)
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.7407A>G (p.Pro2469=)
NM_017617.5(NOTCH1):c.7416G>T (p.Leu2472=)
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.7455C>G (p.Pro2485=)
NM_017617.5(NOTCH1):c.7461G>A (p.Gln2487=) rs1248949192
NM_017617.5(NOTCH1):c.7475C>T (p.Ser2492Leu)
NM_017617.5(NOTCH1):c.747C>T (p.Phe249=) rs2133372901
NM_017617.5(NOTCH1):c.7506A>G (p.Leu2502=)
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.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.7614C>T (p.Ser2538=)
NM_017617.5(NOTCH1):c.7641C>A (p.Ile2547=) rs370124241
NM_017617.5(NOTCH1):c.774C>T (p.Ile258=) rs764542894
NM_017617.5(NOTCH1):c.788G>A (p.Gly263Glu)
NM_017617.5(NOTCH1):c.792C>T (p.Asn264=) rs776687224
NM_017617.5(NOTCH1):c.81C>T (p.Pro27=)
NM_017617.5(NOTCH1):c.844C>T (p.Arg282Cys)
NM_017617.5(NOTCH1):c.865+18C>A
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.901C>T (p.Leu301=) rs1564200379
NM_017617.5(NOTCH1):c.912T>C (p.Asn304=) rs1060504522
NM_017617.5(NOTCH1):c.931A>C (p.Thr311Pro) rs202145498

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