ClinVar Miner

List of variants reported as likely benign for Adams-Oliver syndrome by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1574
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_017617.5(NOTCH1):c.5011G>A (p.Val1671Ile) rs2229968 0.00847
NM_017617.5(NOTCH1):c.64C>T (p.Pro22Ser) rs114832250 0.00587
NM_017617.5(NOTCH1):c.5018+20C>T rs139772121 0.00296
NM_001278689.2(EOGT):c.122G>T (p.Arg41Leu) rs116007086 0.00262
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp) rs201620358 0.00221
NM_017617.5(NOTCH1):c.4028C>T (p.Ala1343Val) rs183156491 0.00171
NM_017617.5(NOTCH1):c.1511G>A (p.Arg504His) rs201768800 0.00110
NM_017617.5(NOTCH1):c.7648A>G (p.Ile2550Val) rs188270459 0.00103
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 0.00071
NM_017617.5(NOTCH1):c.1389C>T (p.Asn463=) rs61733293 0.00067
NM_001278689.2(EOGT):c.621-14A>T rs202028314 0.00062
NM_017617.5(NOTCH1):c.4168C>A (p.Pro1390Thr) rs191645600 0.00061
NM_017617.5(NOTCH1):c.311A>G (p.Asn104Ser) rs199654211 0.00060
NM_017617.5(NOTCH1):c.4898G>A (p.Arg1633His) rs375018022 0.00059
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.6291G>A (p.Pro2097=) rs201987555 0.00057
NM_017617.5(NOTCH1):c.7606G>A (p.Val2536Ile) rs111627256 0.00057
NM_017617.5(NOTCH1):c.6836C>T (p.Ala2279Val) rs200370953 0.00056
NM_017617.5(NOTCH1):c.3970G>A (p.Val1324Met) rs149057410 0.00048
NM_017617.5(NOTCH1):c.5781G>A (p.Thr1927=) rs367587437 0.00048
NM_017617.5(NOTCH1):c.4930C>T (p.Leu1644=) rs568700183 0.00046
NM_017617.5(NOTCH1):c.6108C>T (p.Ala2036=) rs369167693 0.00046
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.6409C>T (p.Pro2137Ser) rs372698234 0.00044
NM_017617.5(NOTCH1):c.5403A>G (p.Ser1801=) rs201358664 0.00043
NM_017617.5(NOTCH1):c.701G>A (p.Arg234His) rs150737112 0.00042
NM_017617.5(NOTCH1):c.3644-4G>A rs376161552 0.00040
NM_001278689.2(EOGT):c.252A>G (p.Lys84=) rs150080769 0.00038
NM_017617.5(NOTCH1):c.2495C>T (p.Pro832Leu) rs559917218 0.00037
NM_017617.5(NOTCH1):c.1981G>A (p.Gly661Ser) rs201077220 0.00035
NM_017617.5(NOTCH1):c.4014G>A (p.Ala1338=) rs377217445 0.00035
NM_017617.5(NOTCH1):c.6636C>T (p.Asp2212=) rs370606059 0.00035
NM_017617.5(NOTCH1):c.6429C>T (p.Asn2143=) rs369845924 0.00034
NM_017617.5(NOTCH1):c.1038C>T (p.His346=) rs376951155 0.00033
NM_017617.5(NOTCH1):c.7223T>C (p.Leu2408Pro) rs767728582 0.00031
NM_017617.5(NOTCH1):c.2674C>T (p.Arg892Cys) rs578228721 0.00030
NM_017617.5(NOTCH1):c.2434G>A (p.Gly812Arg) rs201620755 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.6975T>C (p.Pro2325=) rs200814776 0.00024
NM_017617.5(NOTCH1):c.879C>T (p.Thr293=) rs370170212 0.00024
NM_001278689.2(EOGT):c.516-9A>G rs374408350 0.00023
NM_017617.5(NOTCH1):c.1956G>A (p.Ser652=) rs376101458 0.00022
NM_017617.5(NOTCH1):c.2349C>T (p.Phe783=) rs200092299 0.00022
NM_017617.5(NOTCH1):c.2970-9C>T rs568052902 0.00021
NM_017617.5(NOTCH1):c.7387G>A (p.Ala2463Thr) rs537210445 0.00021
NM_017617.5(NOTCH1):c.1787C>T (p.Thr596Met) rs61755997 0.00020
NM_017617.5(NOTCH1):c.2353+13C>T rs200756000 0.00020
NM_017617.5(NOTCH1):c.2433C>T (p.Ala811=) rs61751552 0.00020
NM_017617.5(NOTCH1):c.3198G>A (p.Ser1066=) rs199892488 0.00020
NM_017617.5(NOTCH1):c.7298T>C (p.Phe2433Ser) rs201493851 0.00020
NM_001278689.2(EOGT):c.1437+11A>G rs377709151 0.00019
NM_017617.5(NOTCH1):c.2037C>T (p.Ile679=) rs367591933 0.00019
NM_017617.5(NOTCH1):c.3325+11G>A rs373779257 0.00019
NM_017617.5(NOTCH1):c.5384+14G>A rs755122664 0.00019
NM_017617.5(NOTCH1):c.5604C>T (p.Asp1868=) rs370916730 0.00019
NM_017617.5(NOTCH1):c.6082+10C>T rs114120958 0.00019
NM_017617.5(NOTCH1):c.6685G>A (p.Val2229Met) rs202096917 0.00019
NM_017617.5(NOTCH1):c.6733G>A (p.Gly2245Arg) rs201613894 0.00019
NM_017617.5(NOTCH1):c.6898G>A (p.Gly2300Arg) rs587778573 0.00019
NM_017617.5(NOTCH1):c.7090A>G (p.Ser2364Gly) rs201045092 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.383G>A (p.Arg128His) rs754086897 0.00018
NM_017617.5(NOTCH1):c.2427C>T (p.Asp809=) rs775162462 0.00017
NM_017617.5(NOTCH1):c.1903+14C>T rs370541870 0.00016
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.454G>A (p.Gly152Ser) rs750242131 0.00015
NM_017617.5(NOTCH1):c.591C>T (p.Asn197=) rs370684825 0.00015
NM_017617.5(NOTCH1):c.6180+9G>A rs200371378 0.00015
NM_001278689.2(EOGT):c.591A>G (p.Glu197=) rs576952007 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.4988G>A (p.Arg1663Gln) rs749490844 0.00014
NM_017617.5(NOTCH1):c.631A>G (p.Thr211Ala) rs376902925 0.00014
NM_017617.5(NOTCH1):c.6376G>A (p.Gly2126Arg) rs572960572 0.00014
NM_017617.5(NOTCH1):c.6509G>A (p.Ser2170Asn) rs200254239 0.00014
NM_001278689.2(EOGT):c.300C>T (p.Val100=) rs371677485 0.00013
NM_017617.5(NOTCH1):c.1699A>G (p.Ile567Val) rs369067940 0.00013
NM_017617.5(NOTCH1):c.1914C>T (p.Cys638=) rs373068883 0.00013
NM_017617.5(NOTCH1):c.1146C>T (p.Asn382=) rs368665838 0.00012
NM_017617.5(NOTCH1):c.1670-19C>T rs377686947 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.5015G>A (p.Arg1672His) rs372830543 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.4864C>T (p.Arg1622Cys) rs747447584 0.00011
NM_017617.5(NOTCH1):c.5273G>A (p.Arg1758His) rs373841359 0.00011
NM_017617.5(NOTCH1):c.5472+9C>T rs200788026 0.00011
NM_017617.5(NOTCH1):c.5631C>T (p.Arg1877=) rs35627681 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.2207+15C>T rs187086513 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.4096G>A (p.Gly1366Ser) rs778270588 0.00010
NM_017617.5(NOTCH1):c.4458C>G (p.Pro1486=) rs747236263 0.00010
NM_017617.5(NOTCH1):c.6057C>T (p.Ala2019=) rs758702512 0.00010
NM_017617.5(NOTCH1):c.6744C>T (p.Asn2248=) rs372771288 0.00010
NM_017617.5(NOTCH1):c.6938G>A (p.Arg2313Gln) rs371069660 0.00010
NM_017617.5(NOTCH1):c.695C>A (p.Thr232Asn) rs869025493 0.00010
NM_001278689.2(EOGT):c.421-7C>T rs770810315 0.00009
NM_017617.5(NOTCH1):c.1099+20G>A rs376139196 0.00009
NM_017617.5(NOTCH1):c.1555+16G>A rs368798926 0.00009
NM_017617.5(NOTCH1):c.1590C>T (p.Asp530=) rs562807473 0.00009
NM_017617.5(NOTCH1):c.1670-18G>A rs375041394 0.00009
NM_017617.5(NOTCH1):c.1904-13G>A rs371069516 0.00009
NM_017617.5(NOTCH1):c.2724C>T (p.Ile908=) rs61751547 0.00009
NM_017617.5(NOTCH1):c.3334G>A (p.Val1112Ile) rs370696201 0.00009
NM_017617.5(NOTCH1):c.390G>A (p.Pro130=) rs61751559 0.00009
NM_017617.5(NOTCH1):c.3966C>T (p.Cys1322=) rs753290862 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+13C>T rs752508890 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.5301C>T (p.Leu1767=) rs372154581 0.00009
NM_017617.5(NOTCH1):c.6083-5C>T rs199786076 0.00009
NM_017617.5(NOTCH1):c.7645C>T (p.Arg2549Cys) rs200893930 0.00009
NM_001278689.2(EOGT):c.315G>A (p.Thr105=) rs755939220 0.00008
NM_017617.5(NOTCH1):c.1870G>A (p.Ala624Thr) rs372771179 0.00008
NM_017617.5(NOTCH1):c.3171+9G>A rs377541723 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.4296C>T (p.Phe1432=) rs774697636 0.00008
NM_017617.5(NOTCH1):c.4314C>T (p.Arg1438=) rs757256477 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.6083-4G>A rs570242146 0.00008
NM_017617.5(NOTCH1):c.1904-17A>C rs764534604 0.00007
NM_017617.5(NOTCH1):c.2014+16C>T rs199814619 0.00007
NM_017617.5(NOTCH1):c.2292C>T (p.Asn764=) rs775201110 0.00007
NM_017617.5(NOTCH1):c.2388G>A (p.Ala796=) rs561956078 0.00007
NM_017617.5(NOTCH1):c.2538A>G (p.Gln846=) rs1235141133 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.3807C>T (p.Asn1269=) rs1008389563 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.4313G>A (p.Arg1438His) rs61751541 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.6082+18C>T rs200956958 0.00007
NM_017617.5(NOTCH1):c.7413G>A (p.Ser2471=) rs367706382 0.00007
NM_017617.5(NOTCH1):c.975C>T (p.Asn325=) rs746111102 0.00007
NM_001278689.2(EOGT):c.624T>C (p.Phe208=) rs371892977 0.00006
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.2108G>A (p.Arg703His) rs561126575 0.00006
NM_017617.5(NOTCH1):c.2207+14C>T rs369626003 0.00006
NM_017617.5(NOTCH1):c.2640C>T (p.His880=) rs374946182 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.3270C>T (p.Thr1090=) rs773990513 0.00006
NM_017617.5(NOTCH1):c.3271G>A (p.Gly1091Ser) rs768095251 0.00006
NM_017617.5(NOTCH1):c.404-13C>G rs766360723 0.00006
NM_017617.5(NOTCH1):c.4718C>T (p.Thr1573Met) rs573864607 0.00006
NM_017617.5(NOTCH1):c.5118C>T (p.Leu1706=) rs747037396 0.00006
NM_017617.5(NOTCH1):c.5183C>T (p.Pro1728Leu) rs766358616 0.00006
NM_017617.5(NOTCH1):c.5550C>T (p.Ala1850=) rs374451515 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.6457G>A (p.Val2153Met) rs375073677 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.7425C>T (p.Pro2475=) rs772308416 0.00006
NM_017617.5(NOTCH1):c.7617T>G (p.Pro2539=) rs375444185 0.00006
NM_001278689.2(EOGT):c.1215-18T>G rs550137927 0.00005
NM_001278689.2(EOGT):c.421-19T>C rs774998840 0.00005
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.2339G>A (p.Arg780Gln) rs750859847 0.00005
NM_017617.5(NOTCH1):c.2355T>C (p.Gly785=) rs199719103 0.00005
NM_017617.5(NOTCH1):c.2588-16T>G rs781139940 0.00005
NM_017617.5(NOTCH1):c.2727C>T (p.Asp909=) rs752854629 0.00005
NM_017617.5(NOTCH1):c.2741-12G>A rs370769571 0.00005
NM_017617.5(NOTCH1):c.2744C>T (p.Pro915Leu) rs755058802 0.00005
NM_017617.5(NOTCH1):c.2812C>T (p.Arg938Trp) rs554142958 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.339C>T (p.Asn113=) rs369947231 0.00005
NM_017617.5(NOTCH1):c.4027G>A (p.Ala1343Thr) rs369654090 0.00005
NM_017617.5(NOTCH1):c.4077C>T (p.Asn1359=) rs775108554 0.00005
NM_017617.5(NOTCH1):c.4143C>T (p.Pro1381=) rs539950718 0.00005
NM_017617.5(NOTCH1):c.4328C>T (p.Pro1443Leu) rs750010764 0.00005
NM_017617.5(NOTCH1):c.4635C>T (p.Cys1545=) rs775752102 0.00005
NM_017617.5(NOTCH1):c.4656G>A (p.Ala1552=) rs375091696 0.00005
NM_017617.5(NOTCH1):c.4698C>T (p.Pro1566=) rs200462746 0.00005
NM_017617.5(NOTCH1):c.4833C>T (p.His1611=) rs1308437413 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.5373C>T (p.Ser1791=) rs777013344 0.00005
NM_017617.5(NOTCH1):c.5384+10C>T rs748380110 0.00005
NM_017617.5(NOTCH1):c.5416A>G (p.Met1806Val) rs114479009 0.00005
NM_017617.5(NOTCH1):c.5765A>G (p.Asn1922Ser) rs765708087 0.00005
NM_017617.5(NOTCH1):c.5793C>A (p.Ala1931=) rs569844183 0.00005
NM_017617.5(NOTCH1):c.5853C>T (p.Ser1951=) rs373902356 0.00005
NM_017617.5(NOTCH1):c.6090C>T (p.Ser2030=) rs773621396 0.00005
NM_017617.5(NOTCH1):c.61+7G>T rs753396547 0.00005
NM_017617.5(NOTCH1):c.6750G>A (p.Ala2250=) rs758285863 0.00005
NM_017617.5(NOTCH1):c.6783C>T (p.Gly2261=) rs749536941 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_001278689.2(EOGT):c.1458G>A (p.Gly486=) rs191230655 0.00004
NM_017617.5(NOTCH1):c.1023C>T (p.Ser341=) rs200324222 0.00004
NM_017617.5(NOTCH1):c.1256-16C>T rs374025845 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.2126A>G (p.His709Arg) rs373233257 0.00004
NM_017617.5(NOTCH1):c.2613C>T (p.Asn871=) rs767614547 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.3171+12G>A rs753242532 0.00004
NM_017617.5(NOTCH1):c.3210C>T (p.Asn1070=) rs768144709 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.4015-7C>T rs761783451 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.4587-6C>T rs368601709 0.00004
NM_017617.5(NOTCH1):c.4713C>T (p.Ala1571=) rs377357743 0.00004
NM_017617.5(NOTCH1):c.4800G>A (p.Leu1600=) rs761609069 0.00004
NM_017617.5(NOTCH1):c.5115G>A (p.Ala1705=) rs201797774 0.00004
NM_017617.5(NOTCH1):c.5168-4G>A rs751709616 0.00004
NM_017617.5(NOTCH1):c.5220G>A (p.Ala1740=) rs758562368 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.5638+7G>C rs747630187 0.00004
NM_017617.5(NOTCH1):c.5639-14C>T rs770070044 0.00004
NM_017617.5(NOTCH1):c.5715C>T (p.Asp1905=) rs748200129 0.00004
NM_017617.5(NOTCH1):c.573C>T (p.His191=) rs763733336 0.00004
NM_017617.5(NOTCH1):c.6083-15G>C rs935662425 0.00004
NM_017617.5(NOTCH1):c.6150C>T (p.Asn2050=) rs757372588 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.6453C>T (p.Pro2151=) rs377302245 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.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.743-4G>T rs748001079 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.773T>C (p.Ile258Thr) rs1217015143 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_001278689.2(EOGT):c.1467G>A (p.Pro489=) rs188086670 0.00003
NM_001278689.2(EOGT):c.515+7T>A rs764750079 0.00003
NM_001278689.2(EOGT):c.516-8T>C rs766271301 0.00003
NM_001278689.2(EOGT):c.620+16C>T rs370215381 0.00003
NM_001278689.2(EOGT):c.728-7A>C rs778701502 0.00003
NM_017617.5(NOTCH1):c.1218C>G (p.Gly406=) rs778362940 0.00003
NM_017617.5(NOTCH1):c.1335G>A (p.Thr445=) rs564566136 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.2015-13G>A rs772867940 0.00003
NM_017617.5(NOTCH1):c.210C>T (p.Asn70=) rs763414200 0.00003
NM_017617.5(NOTCH1):c.2207+19C>G rs760094286 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.2503C>T (p.Pro835Ser) rs377353441 0.00003
NM_017617.5(NOTCH1):c.2511C>T (p.Pro837=) rs201521828 0.00003
NM_017617.5(NOTCH1):c.2520C>T (p.Asn840=) rs546222078 0.00003
NM_017617.5(NOTCH1):c.2541C>T (p.Ser847=) rs763472606 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.2740+15G>A rs1399805738 0.00003
NM_017617.5(NOTCH1):c.2754C>T (p.Asn918=) rs373787791 0.00003
NM_017617.5(NOTCH1):c.2995G>A (p.Val999Met) rs756840659 0.00003
NM_017617.5(NOTCH1):c.3012G>A (p.Ser1004=) rs371301397 0.00003
NM_017617.5(NOTCH1):c.3076G>A (p.Asp1026Asn) rs772134978 0.00003
NM_017617.5(NOTCH1):c.3283G>A (p.Asp1095Asn) rs774818130 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.3642G>A (p.Gln1214=) rs577243605 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.403+17A>T rs544324440 0.00003
NM_017617.5(NOTCH1):c.411G>A (p.Ser137=) rs560826996 0.00003
NM_017617.5(NOTCH1):c.4308C>T (p.Ala1436=) rs749702298 0.00003
NM_017617.5(NOTCH1):c.4326G>A (p.Pro1442=) rs376469653 0.00003
NM_017617.5(NOTCH1):c.4329G>A (p.Pro1443=) rs1466689418 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.4467C>T (p.Asn1489=) rs773323801 0.00003
NM_017617.5(NOTCH1):c.4572G>A (p.Ala1524=) rs745794855 0.00003
NM_017617.5(NOTCH1):c.4587-12C>T rs747774591 0.00003
NM_017617.5(NOTCH1):c.4587-5C>G rs780617240 0.00003
NM_017617.5(NOTCH1):c.4596C>T (p.Tyr1532=) rs751774685 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.5070G>A (p.Ser1690=) rs370200858 0.00003
NM_017617.5(NOTCH1):c.5103A>G (p.Ala1701=) rs776610176 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.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.5639-16G>A rs773383571 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.597C>T (p.Val199=) rs747342494 0.00003
NM_017617.5(NOTCH1):c.5991G>A (p.Thr1997=) rs577642121 0.00003
NM_017617.5(NOTCH1):c.6082+19G>A rs780533166 0.00003
NM_017617.5(NOTCH1):c.6180+8C>T rs769015966 0.00003
NM_017617.5(NOTCH1):c.6181-15G>A rs375436198 0.00003
NM_017617.5(NOTCH1):c.621C>T (p.Arg207=) rs756164624 0.00003
NM_017617.5(NOTCH1):c.6223G>A (p.Glu2075Lys) rs549258808 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.6577A>G (p.Ser2193Gly) rs1060502236 0.00003
NM_017617.5(NOTCH1):c.6612G>A (p.Glu2204=) rs1344385768 0.00003
NM_017617.5(NOTCH1):c.6684C>T (p.Ser2228=) rs369358839 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.7278C>T (p.Ser2426=) rs757461161 0.00003
NM_017617.5(NOTCH1):c.7314G>A (p.Pro2438=) rs370442918 0.00003
NM_017617.5(NOTCH1):c.7377G>A (p.Gln2459=) rs1317170488 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.7599C>T (p.Ser2533=) rs781317676 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_001278689.2(EOGT):c.312-20A>G rs144575839 0.00002
NM_017617.5(NOTCH1):c.1044C>T (p.Ala348=) rs749267756 0.00002
NM_017617.5(NOTCH1):c.114A>G (p.Glu38=) rs375506915 0.00002
NM_017617.5(NOTCH1):c.1221G>A (p.Pro407=) rs367567190 0.00002
NM_017617.5(NOTCH1):c.1255+14C>T rs1208037012 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.1369G>A (p.Val457Ile) rs573153379 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.1676C>T (p.Thr559Met) rs376055493 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.1758C>A (p.Thr586=) rs369523266 0.00002
NM_017617.5(NOTCH1):c.1821C>T (p.Cys607=) rs371525014 0.00002
NM_017617.5(NOTCH1):c.1861C>T (p.Arg621Cys) rs774622686 0.00002
NM_017617.5(NOTCH1):c.1929T>C (p.Asp643=) rs527323201 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.2261A>G (p.Asn754Ser) rs761072761 0.00002
NM_017617.5(NOTCH1):c.2297G>T (p.Gly766Val) rs374434131 0.00002
NM_017617.5(NOTCH1):c.2353+16G>A rs771973233 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.2631G>A (p.Pro877=) rs777573424 0.00002
NM_017617.5(NOTCH1):c.2741-18C>T rs775954871 0.00002
NM_017617.5(NOTCH1):c.2835C>G (p.Asp945Glu) rs756174213 0.00002
NM_017617.5(NOTCH1):c.2896A>G (p.Ser966Gly) rs745928497 0.00002
NM_017617.5(NOTCH1):c.289C>T (p.Leu97Phe) rs1399662154 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.3034G>A (p.Gly1012Ser) rs776957107 0.00002
NM_017617.5(NOTCH1):c.3099C>T (p.Gly1033=) rs775567314 0.00002
NM_017617.5(NOTCH1):c.3120C>T (p.Cys1040=) rs1189026962 0.00002
NM_017617.5(NOTCH1):c.3171+11C>T rs757898668 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.3261C>T (p.Ser1087=) rs543586029 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.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.4026C>T (p.Gly1342=) rs745417181 0.00002
NM_017617.5(NOTCH1):c.4080C>T (p.Gly1360=) rs745455844 0.00002
NM_017617.5(NOTCH1):c.4251C>T (p.Pro1417=) rs1453185145 0.00002
NM_017617.5(NOTCH1):c.4312C>T (p.Arg1438Cys) rs746077264 0.00002
NM_017617.5(NOTCH1):c.4413G>A (p.Ala1471=) rs756867304 0.00002
NM_017617.5(NOTCH1):c.4587-11G>A rs778356792 0.00002
NM_017617.5(NOTCH1):c.4671C>T (p.Asp1557=) rs757602593 0.00002
NM_017617.5(NOTCH1):c.474C>T (p.Phe158=) rs774011231 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.5167+20G>A rs895590492 0.00002
NM_017617.5(NOTCH1):c.5190G>A (p.Pro1730=) rs369854704 0.00002
NM_017617.5(NOTCH1):c.5256C>T (p.Cys1752=) rs770333134 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.5916C>T (p.Asp1972=) rs1045892978 0.00002
NM_017617.5(NOTCH1):c.5934+8G>A rs747822127 0.00002
NM_017617.5(NOTCH1):c.6019G>A (p.Val2007Met) rs374168429 0.00002
NM_017617.5(NOTCH1):c.6054C>T (p.His2018=) rs202198360 0.00002
NM_017617.5(NOTCH1):c.6065A>G (p.Asn2022Ser) rs369621601 0.00002
NM_017617.5(NOTCH1):c.6069C>T (p.Ala2023=) rs375920679 0.00002
NM_017617.5(NOTCH1):c.6083-10T>G rs1380449680 0.00002
NM_017617.5(NOTCH1):c.6204C>T (p.Ala2068=) rs767118276 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.672C>T (p.Pro224=) rs777019253 0.00002
NM_017617.5(NOTCH1):c.6749C>T (p.Ala2250Val) rs777809068 0.00002
NM_017617.5(NOTCH1):c.6759C>T (p.Pro2253=) rs770738954 0.00002
NM_017617.5(NOTCH1):c.6948C>T (p.Ser2316=) rs771142030 0.00002
NM_017617.5(NOTCH1):c.7114C>T (p.Arg2372Trp) rs754234580 0.00002
NM_017617.5(NOTCH1):c.714C>T (p.Asp238=) rs532058137 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.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.788G>A (p.Gly263Glu) rs768903474 0.00002
NM_017617.5(NOTCH1):c.81C>T (p.Pro27=) rs1293509255 0.00002
NM_017617.5(NOTCH1):c.823G>A (p.Gly275Ser) rs371333249 0.00002
NM_001278689.2(EOGT):c.1153-17T>G rs538774454 0.00001
NM_001278689.2(EOGT):c.1158A>G (p.Val386=) rs758054412 0.00001
NM_001278689.2(EOGT):c.1214+16T>C rs769801252 0.00001
NM_001278689.2(EOGT):c.1368C>T (p.Asp456=) rs750519290 0.00001
NM_001278689.2(EOGT):c.1386C>T (p.Gly462=) rs1575701273 0.00001
NM_001278689.2(EOGT):c.1440C>T (p.Gly480=) rs778355816 0.00001
NM_001278689.2(EOGT):c.1488C>T (p.Phe496=) rs771945573 0.00001
NM_001278689.2(EOGT):c.1524T>C (p.Ala508=) rs1575699109 0.00001
NM_001278689.2(EOGT):c.495C>T (p.Asn165=) rs763682959 0.00001
NM_001278689.2(EOGT):c.515+17T>C rs540955313 0.00001
NM_001278689.2(EOGT):c.585G>A (p.Thr195=) rs761982280 0.00001
NM_001278689.2(EOGT):c.620+19A>T rs574412438 0.00001
NM_001278689.2(EOGT):c.663T>A (p.Pro221=) rs779628950 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.1047C>T (p.Thr349=) rs755872359 0.00001
NM_017617.5(NOTCH1):c.1058G>A (p.Arg353His) rs750215904 0.00001
NM_017617.5(NOTCH1):c.1062G>C (p.Val354=) rs767138404 0.00001
NM_017617.5(NOTCH1):c.1068C>T (p.Ser356=) rs756916163 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+15_1255+16del rs775945192 0.00001
NM_017617.5(NOTCH1):c.1255+20G>T rs1253206998 0.00001
NM_017617.5(NOTCH1):c.1255+9C>T rs775401272 0.00001
NM_017617.5(NOTCH1):c.1256-9C>T rs1401233481 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.128C>T (p.Thr43Met) rs371103280 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.1334C>T (p.Thr445Met) rs752919688 0.00001
NM_017617.5(NOTCH1):c.1356C>T (p.Asp452=) rs767527946 0.00001
NM_017617.5(NOTCH1):c.1373C>T (p.Ser458Leu) rs769569937 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.140+14C>T rs749885017 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.1530T>C (p.Asn510=) rs1222845749 0.00001
NM_017617.5(NOTCH1):c.153C>T (p.Ala51=) rs748048002 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.1619G>A (p.Gly540Asp) rs767618789 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.1652C>T (p.Thr551Ile) rs1218640363 0.00001
NM_017617.5(NOTCH1):c.1669+12C>T rs780649182 0.00001
NM_017617.5(NOTCH1):c.1670-11C>T rs953522524 0.00001
NM_017617.5(NOTCH1):c.1670-7G>T rs1242028632 0.00001
NM_017617.5(NOTCH1):c.1683G>A (p.Thr561=) rs766351093 0.00001
NM_017617.5(NOTCH1):c.1698C>T (p.Asp566=) rs541992446 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.1719C>T (p.Asp573=) rs1002136018 0.00001
NM_017617.5(NOTCH1):c.1721C>T (p.Pro574Leu) rs771263341 0.00001
NM_017617.5(NOTCH1):c.1726C>T (p.His576Tyr) rs1409484433 0.00001
NM_017617.5(NOTCH1):c.1728C>T (p.His576=) rs778012887 0.00001
NM_017617.5(NOTCH1):c.1749C>T (p.Gly583=) rs751367001 0.00001
NM_017617.5(NOTCH1):c.1755C>T (p.Ala585=) rs1466659725 0.00001
NM_017617.5(NOTCH1):c.1761C>T (p.Phe587=) rs1176092277 0.00001
NM_017617.5(NOTCH1):c.1770C>G (p.Leu590=) rs949220276 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.1904-15G>A rs373307296 0.00001
NM_017617.5(NOTCH1):c.1904-20G>A rs762328294 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.1923C>T (p.Asn641=) rs369706432 0.00001
NM_017617.5(NOTCH1):c.1924C>G (p.Leu642Val) rs755740633 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.2014+8G>A rs372627206 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.2033A>G (p.Asn678Ser) rs370515392 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.2172C>G (p.Pro724=) rs1344204097 0.00001
NM_017617.5(NOTCH1):c.2175C>T (p.Cys725=) rs770313470 0.00001
NM_017617.5(NOTCH1):c.2181C>T (p.His727=) rs760278621 0.00001
NM_017617.5(NOTCH1):c.2207+9C>T rs751315476 0.00001
NM_017617.5(NOTCH1):c.2291A>G (p.Asn764Ser) rs1454630791 0.00001
NM_017617.5(NOTCH1):c.2333C>T (p.Thr778Ile) rs765822790 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.2353+20C>G rs1223067178 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.249A>G (p.Ala83=) rs2540469919 0.00001
NM_017617.5(NOTCH1):c.2501C>T (p.Ala834Val) rs202144877 0.00001
NM_017617.5(NOTCH1):c.2549A>G (p.Tyr850Cys) rs775846884 0.00001
NM_017617.5(NOTCH1):c.2550T>C (p.Tyr850=) rs969268360 0.00001
NM_017617.5(NOTCH1):c.2588-15C>T rs757061203 0.00001
NM_017617.5(NOTCH1):c.2594C>T (p.Thr865Ile) rs1342719071 0.00001
NM_017617.5(NOTCH1):c.2611A>G (p.Asn871Asp) rs200235006 0.00001
NM_017617.5(NOTCH1):c.2626A>G (p.Ser876Gly) rs1291929434 0.00001
NM_017617.5(NOTCH1):c.2643C>T (p.Gly881=) rs750777328 0.00001
NM_017617.5(NOTCH1):c.2661C>T (p.Thr887=) rs61751549 0.00001
NM_017617.5(NOTCH1):c.2667C>T (p.Gly889=) rs770793676 0.00001
NM_017617.5(NOTCH1):c.2670C>T (p.Gly890=) rs538965250 0.00001
NM_017617.5(NOTCH1):c.2675G>A (p.Arg892His) rs199506721 0.00001
NM_017617.5(NOTCH1):c.2679C>T (p.Cys893=) rs373306460 0.00001
NM_017617.5(NOTCH1):c.2685C>T (p.Cys895=) rs2133353146 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.2705G>A (p.Arg902His) rs373075482 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.2741-7C>T rs533595456 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.2794G>A (p.Asp932Asn) rs758642073 0.00001
NM_017617.5(NOTCH1):c.27C>G (p.Leu9=) rs1422526202 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.2883G>A (p.Thr961=) rs774785001 0.00001
NM_017617.5(NOTCH1):c.2895C>T (p.Asp965=) rs769901855 0.00001
NM_017617.5(NOTCH1):c.2916C>T (p.Pro972=) rs754724517 0.00001
NM_017617.5(NOTCH1):c.2919A>G (p.Ala973=) rs766105850 0.00001
NM_017617.5(NOTCH1):c.2969+7G>A rs770026189 0.00001
NM_017617.5(NOTCH1):c.2970-15C>G rs749173624 0.00001
NM_017617.5(NOTCH1):c.2970-5T>G rs1406514520 0.00001
NM_017617.5(NOTCH1):c.2983G>A (p.Gly995Ser) rs868369610 0.00001
NM_017617.5(NOTCH1):c.3000C>T (p.Asp1000=) rs751055570 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.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.3129C>T (p.Tyr1043=) rs752650941 0.00001
NM_017617.5(NOTCH1):c.3172-7T>C rs370144650 0.00001
NM_017617.5(NOTCH1):c.3176T>C (p.Leu1059Pro) rs776624865 0.00001
NM_017617.5(NOTCH1):c.3190G>A (p.Asp1064Asn) rs375931404 0.00001
NM_017617.5(NOTCH1):c.3197C>T (p.Ser1066Leu) rs771739312 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.3282C>T (p.Cys1094=) rs748813647 0.00001
NM_017617.5(NOTCH1):c.3285C>T (p.Asp1095=) rs770364830 0.00001
NM_017617.5(NOTCH1):c.3326-12C>T rs1346042597 0.00001
NM_017617.5(NOTCH1):c.3326-13C>A rs776228201 0.00001
NM_017617.5(NOTCH1):c.3326-5C>T rs765346348 0.00001
NM_017617.5(NOTCH1):c.3345G>T (p.Leu1115=) rs752440904 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.3510+11C>T rs1057524613 0.00001
NM_017617.5(NOTCH1):c.3510+18G>A rs780687041 0.00001
NM_017617.5(NOTCH1):c.3511-13G>A rs925720926 0.00001
NM_017617.5(NOTCH1):c.3511-15C>G rs934417658 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.354C>T (p.Asp118=) rs910485742 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+14C>T rs776243821 0.00001
NM_017617.5(NOTCH1):c.3643+9C>T rs764985096 0.00001
NM_017617.5(NOTCH1):c.3644-14A>G rs772817430 0.00001
NM_017617.5(NOTCH1):c.3644-7C>G rs1243301340 0.00001
NM_017617.5(NOTCH1):c.3663C>T (p.Asn1221=) rs780527525 0.00001
NM_017617.5(NOTCH1):c.3667G>A (p.Asp1223Asn) rs373064962 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.3833C>T (p.Ala1278Val) rs772287969 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.3891T>C (p.Ala1297=) rs1278218107 0.00001
NM_017617.5(NOTCH1):c.3901+20G>A rs746813873 0.00001
NM_017617.5(NOTCH1):c.3902-7C>T rs1843090422 0.00001
NM_017617.5(NOTCH1):c.3907C>T (p.Arg1303Cys) rs774526596 0.00001
NM_017617.5(NOTCH1):c.3908G>A (p.Arg1303His) rs768775024 0.00001
NM_017617.5(NOTCH1):c.3912C>T (p.Cys1304=) rs763045035 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.4067G>A (p.Arg1356His) rs864622727 0.00001
NM_017617.5(NOTCH1):c.4074C>T (p.Leu1358=) rs762830852 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.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.4297G>A (p.Gly1433Arg) rs751904604 0.00001
NM_017617.5(NOTCH1):c.429G>A (p.Pro143=) rs757406877 0.00001
NM_017617.5(NOTCH1):c.4311G>T (p.Gly1437=) rs770154932 0.00001
NM_017617.5(NOTCH1):c.4336G>A (p.Glu1446Lys) rs1198437870 0.00001
NM_017617.5(NOTCH1):c.4343C>T (p.Ala1448Val) rs1479377696 0.00001
NM_017617.5(NOTCH1):c.4357G>A (p.Glu1453Lys) rs746144524 0.00001
NM_017617.5(NOTCH1):c.4362C>T (p.Cys1454=) rs944984360 0.00001
NM_017617.5(NOTCH1):c.4371C>T (p.Asp1457=) rs368677987 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.4425C>T (p.Asp1475=) rs371948072 0.00001
NM_017617.5(NOTCH1):c.4428C>T (p.Gly1476=) rs765751888 0.00001
NM_017617.5(NOTCH1):c.4477T>C (p.Ser1493Pro) rs749283347 0.00001
NM_017617.5(NOTCH1):c.447C>T (p.Cys149=) rs1042034779 0.00001
NM_017617.5(NOTCH1):c.4482G>T (p.Leu1494=) rs1443043549 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.456T>C (p.Gly152=) rs1044385750 0.00001
NM_017617.5(NOTCH1):c.4587-18G>A rs771904231 0.00001
NM_017617.5(NOTCH1):c.4587-9C>T rs1390687627 0.00001
NM_017617.5(NOTCH1):c.4593G>A (p.Leu1531=) rs757510080 0.00001
NM_017617.5(NOTCH1):c.45C>G (p.Pro15=) rs764936481 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.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.4749G>A (p.Glu1583=) rs1172144342 0.00001
NM_017617.5(NOTCH1):c.4776C>T (p.Phe1592=) rs752861485 0.00001
NM_017617.5(NOTCH1):c.4780C>T (p.Arg1594Trp) rs1213244424 0.00001
NM_017617.5(NOTCH1):c.480C>T (p.Ala160=) rs762389418 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.4867G>A (p.Glu1623Lys) rs187112709 0.00001
NM_017617.5(NOTCH1):c.486C>T (p.Tyr162=) rs1249681332 0.00001
NM_017617.5(NOTCH1):c.4878G>A (p.Leu1626=) rs748490635 0.00001
NM_017617.5(NOTCH1):c.4880G>A (p.Arg1627His) rs946083212 0.00001
NM_017617.5(NOTCH1):c.4911C>T (p.Gly1637=) rs953232466 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.5168-20C>T rs755553224 0.00001
NM_017617.5(NOTCH1):c.5168-5C>T rs757370134 0.00001
NM_017617.5(NOTCH1):c.5181G>A (p.Glu1727=) rs1843014055 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.5196G>A (p.Ala1732=) rs748738760 0.00001
NM_017617.5(NOTCH1):c.5227G>A (p.Ala1743Thr) rs767215912 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.5281C>T (p.Arg1761Trp) rs756191146 0.00001
NM_017617.5(NOTCH1):c.5282G>A (p.Arg1761Gln) rs750318685 0.00001
NM_017617.5(NOTCH1):c.5333C>T (p.Ala1778Val) rs1422917398 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.5446G>A (p.Glu1816Lys) rs763140976 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+16C>T rs531223178 0.00001
NM_017617.5(NOTCH1):c.5472+18C>T rs199812169 0.00001
NM_017617.5(NOTCH1):c.5472+7C>T rs759639844 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.5473-12C>T rs1322217113 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.5557C>T (p.Leu1853=) rs371071658 0.00001
NM_017617.5(NOTCH1):c.5559G>A (p.Leu1853=) rs879405041 0.00001
NM_017617.5(NOTCH1):c.5560C>T (p.Arg1854Cys) rs376689092 0.00001
NM_017617.5(NOTCH1):c.5605G>T (p.Ala1869Ser) rs200603539 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.5625T>C (p.Asn1875=) rs2540429467 0.00001
NM_017617.5(NOTCH1):c.5652G>A (p.Pro1884=) rs766279504 0.00001
NM_017617.5(NOTCH1):c.5680G>A (p.Gly1894Ser) rs1334842062 0.00001
NM_017617.5(NOTCH1):c.5717C>T (p.Ala1906Val) rs756056361 0.00001
NM_017617.5(NOTCH1):c.5790C>T (p.Thr1930=) rs772372556 0.00001
NM_017617.5(NOTCH1):c.5805C>T (p.Ala1935=) rs774693459 0.00001
NM_017617.5(NOTCH1):c.5830G>A (p.Ala1944Thr) rs371414501 0.00001
NM_017617.5(NOTCH1):c.5934+10G>A rs778371302 0.00001
NM_017617.5(NOTCH1):c.5935-19G>A rs375090448 0.00001
NM_017617.5(NOTCH1):c.5944C>T (p.Arg1982Trp) rs764422420 0.00001
NM_017617.5(NOTCH1):c.5945G>A (p.Arg1982Gln) rs763052700 0.00001
NM_017617.5(NOTCH1):c.5971C>T (p.Arg1991Cys) rs759553984 0.00001
NM_017617.5(NOTCH1):c.5981A>G (p.Asp1994Gly) rs1454512890 0.00001
NM_017617.5(NOTCH1):c.5995C>T (p.Leu1999=) rs1208814818 0.00001
NM_017617.5(NOTCH1):c.6013C>T (p.Leu2005=) rs557773323 0.00001
NM_017617.5(NOTCH1):c.6058G>A (p.Asp2020Asn) rs752928106 0.00001
NM_017617.5(NOTCH1):c.6072A>T (p.Val2024=) rs1842959494 0.00001
NM_017617.5(NOTCH1):c.6083-16T>G rs1050080917 0.00001
NM_017617.5(NOTCH1):c.6084C>G (p.Gly2028=) rs1060504524 0.00001
NM_017617.5(NOTCH1):c.6091G>A (p.Ala2031Thr) rs932710972 0.00001
NM_017617.5(NOTCH1):c.61+11A>G rs1400816809 0.00001
NM_017617.5(NOTCH1):c.61+17C>T rs1257267003 0.00001
NM_017617.5(NOTCH1):c.6111C>T (p.Ala2037=) rs749488166 0.00001
NM_017617.5(NOTCH1):c.612C>T (p.Cys204=) rs1208829487 0.00001
NM_017617.5(NOTCH1):c.6131C>T (p.Ala2044Val) rs1085307562 0.00001
NM_017617.5(NOTCH1):c.6135T>C (p.Val2045=) rs920077656 0.00001
NM_017617.5(NOTCH1):c.6156T>A (p.Ala2052=) rs768912472 0.00001
NM_017617.5(NOTCH1):c.6181-16C>T rs754919355 0.00001
NM_017617.5(NOTCH1):c.6181-5C>G rs750080333 0.00001
NM_017617.5(NOTCH1):c.6198T>C (p.Phe2066=) rs1842936899 0.00001
NM_017617.5(NOTCH1):c.62-9C>T rs368106834 0.00001
NM_017617.5(NOTCH1):c.6205G>A (p.Ala2069Thr) rs567909904 0.00001
NM_017617.5(NOTCH1):c.6213G>A (p.Glu2071=) rs761295801 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.6252T>C (p.Phe2084=) rs1411703550 0.00001
NM_017617.5(NOTCH1):c.6258C>T (p.Asn2086=) rs747133201 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.6362G>A (p.Ser2121Asn) rs761054017 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.6450G>T (p.Lys2150Asn) rs1409851158 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.6556G>A (p.Gly2186Ser) rs1437234014 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.6594G>A (p.Ser2198=) rs774256366 0.00001
NM_017617.5(NOTCH1):c.6645G>A (p.Ser2215=) rs745339419 0.00001
NM_017617.5(NOTCH1):c.6647C>T (p.Pro2216Leu) rs771450276 0.00001
NM_017617.5(NOTCH1):c.66G>C (p.Pro22=) rs775812729 0.00001
NM_017617.5(NOTCH1):c.6756G>A (p.Lys2252=) rs1842926814 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.6819C>T (p.Leu2273=) rs778759745 0.00001
NM_017617.5(NOTCH1):c.687C>T (p.Asn229=) rs535217359 0.00001
NM_017617.5(NOTCH1):c.688G>A (p.Gly230Arg) rs1027492078 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.6924C>T (p.Cys2308=) rs756653663 0.00001
NM_017617.5(NOTCH1):c.6966A>G (p.Gln2322=) rs1318983291 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.700C>T (p.Arg234Cys) rs567890045 0.00001
NM_017617.5(NOTCH1):c.7011A>C (p.Thr2337=) rs766464482 0.00001
NM_017617.5(NOTCH1):c.7028A>T (p.Gln2343Leu) rs768695849 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.7080C>T (p.Ser2360=) rs1842919950 0.00001
NM_017617.5(NOTCH1):c.708G>A (p.Thr236=) rs774679591 0.00001
NM_017617.5(NOTCH1):c.7104G>A (p.Leu2368=) rs779525805 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.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.726G>A (p.Glu242=) rs1843394434 0.00001
NM_017617.5(NOTCH1):c.7312C>T (p.Pro2438Ser) rs1163865960 0.00001
NM_017617.5(NOTCH1):c.7315A>C (p.Ser2439Arg) rs942055234 0.00001
NM_017617.5(NOTCH1):c.7416G>T (p.Leu2472=) rs558374809 0.00001
NM_017617.5(NOTCH1):c.742+13G>A rs1233164878 0.00001
NM_017617.5(NOTCH1):c.743-17G>A rs759467563 0.00001
NM_017617.5(NOTCH1):c.743-6C>T rs200395304 0.00001
NM_017617.5(NOTCH1):c.7461G>A (p.Gln2487=) rs1248949192 0.00001
NM_017617.5(NOTCH1):c.7475C>T (p.Ser2492Leu) rs751367016 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.7614C>T (p.Ser2538=) rs1842909779 0.00001
NM_017617.5(NOTCH1):c.7627A>G (p.Met2543Val) rs752428699 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.844C>T (p.Arg282Cys) rs1468729123 0.00001
NM_017617.5(NOTCH1):c.865+19G>A rs775120395 0.00001
NM_017617.5(NOTCH1):c.866-16C>G rs370655335 0.00001
NM_017617.5(NOTCH1):c.866-7C>T rs368001435 0.00001
NM_017617.5(NOTCH1):c.948C>T (p.His316=) rs904456632 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_001278689.2(EOGT):c.1084-8G>T rs1251218119
NM_001278689.2(EOGT):c.1137C>A (p.Ile379=) rs768193075
NM_001278689.2(EOGT):c.1152+14A>G
NM_001278689.2(EOGT):c.1209G>A (p.Lys403=) rs981266167
NM_001278689.2(EOGT):c.124T>C (p.Leu42=) rs2091525759
NM_001278689.2(EOGT):c.1437+15C>G rs377724323
NM_001278689.2(EOGT):c.1438-8T>A
NM_001278689.2(EOGT):c.1446T>C (p.His482=) rs2471373565
NM_001278689.2(EOGT):c.1455G>C (p.Leu485=) rs2471373369
NM_001278689.2(EOGT):c.204A>G (p.Pro68=)
NM_001278689.2(EOGT):c.210+10A>C rs1410315129
NM_001278689.2(EOGT):c.211-9A>G rs2471640651
NM_001278689.2(EOGT):c.300C>G (p.Val100=) rs371677485
NM_001278689.2(EOGT):c.311+12del rs2471639258
NM_001278689.2(EOGT):c.312-10T>C rs1559615651
NM_001278689.2(EOGT):c.357T>C (p.Ala119=)
NM_001278689.2(EOGT):c.421-16T>A rs2471614330
NM_001278689.2(EOGT):c.421-6C>T rs2091409901
NM_001278689.2(EOGT):c.45A>C (p.Ser15=) rs2471650715
NM_001278689.2(EOGT):c.471C>A (p.Thr157=) rs560607406
NM_001278689.2(EOGT):c.516-23_516-19del rs373543747
NM_001278689.2(EOGT):c.618A>T (p.Ser206=) rs373952598
NM_001278689.2(EOGT):c.621-14del rs779286473
NM_001278689.2(EOGT):c.727+16T>G rs2107336057
NM_001278689.2(EOGT):c.831+19T>A rs2471555473
NM_017617.5(NOTCH1):c.1005C>A (p.Asn335Lys) rs1373881914
NM_017617.5(NOTCH1):c.1014C>T (p.Asp338=) rs1843317765
NM_017617.5(NOTCH1):c.1059T>C (p.Arg353=) rs2133370746
NM_017617.5(NOTCH1):c.105G>C (p.Gly35=) rs1477771733
NM_017617.5(NOTCH1):c.1099+14G>A
NM_017617.5(NOTCH1):c.1100-16G>A rs146815871
NM_017617.5(NOTCH1):c.1100-17C>G
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=) rs2133369947
NM_017617.5(NOTCH1):c.1125A>C (p.Ala375=) rs371954544
NM_017617.5(NOTCH1):c.1131C>T (p.Ile377=)
NM_017617.5(NOTCH1):c.1179T>C (p.Asn393=)
NM_017617.5(NOTCH1):c.117G>A (p.Ala39=)
NM_017617.5(NOTCH1):c.1212C>T (p.Tyr404=)
NM_017617.5(NOTCH1):c.1251G>A (p.Ser417=) rs764212360
NM_017617.5(NOTCH1):c.1251G>C (p.Ser417=) rs764212360
NM_017617.5(NOTCH1):c.1255+10dup rs2540461038
NM_017617.5(NOTCH1):c.1255+13dup rs2540461032
NM_017617.5(NOTCH1):c.1255+19G>A rs1843307010
NM_017617.5(NOTCH1):c.1255+19G>T rs1843307010
NM_017617.5(NOTCH1):c.1256-10C>T rs2540460729
NM_017617.5(NOTCH1):c.1256-13G>T rs2133369121
NM_017617.5(NOTCH1):c.1256-15G>T rs200086842
NM_017617.5(NOTCH1):c.1256-6C>T
NM_017617.5(NOTCH1):c.1256-8C>G rs1052776009
NM_017617.5(NOTCH1):c.1256-9C>G rs1401233481
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.1374G>A (p.Ser458=) rs886039016
NM_017617.5(NOTCH1):c.1386G>A (p.Gln462=) rs2133368484
NM_017617.5(NOTCH1):c.140+11C>A rs2540492440
NM_017617.5(NOTCH1):c.140+15T>G rs1379464090
NM_017617.5(NOTCH1):c.140+18G>A
NM_017617.5(NOTCH1):c.140+20del rs751297042
NM_017617.5(NOTCH1):c.140+9C>G rs1843773316
NM_017617.5(NOTCH1):c.141-11T>C
NM_017617.5(NOTCH1):c.1428C>T (p.Cys476=)
NM_017617.5(NOTCH1):c.1441+11C>A rs376506127
NM_017617.5(NOTCH1):c.1441+11del rs771024805
NM_017617.5(NOTCH1):c.1442-11C>G
NM_017617.5(NOTCH1):c.1442-11C>T
NM_017617.5(NOTCH1):c.1442-12C>T rs1241878638
NM_017617.5(NOTCH1):c.1442-17_1442-16del rs1214692388
NM_017617.5(NOTCH1):c.1447G>A (p.Glu483Lys)
NM_017617.5(NOTCH1):c.1467C>G (p.Val489=) rs1329915700
NM_017617.5(NOTCH1):c.1482T>C (p.Cys494=)
NM_017617.5(NOTCH1):c.1527C>T (p.Ile509=) rs2133367383
NM_017617.5(NOTCH1):c.1543G>A (p.Glu515Lys) rs749085650
NM_017617.5(NOTCH1):c.1551C>A (p.Pro517=) rs755821306
NM_017617.5(NOTCH1):c.1555+11C>T rs2540459560
NM_017617.5(NOTCH1):c.1555+13C>G rs2540459559
NM_017617.5(NOTCH1):c.1555+16G>T
NM_017617.5(NOTCH1):c.1555+17C>T rs760877301
NM_017617.5(NOTCH1):c.1556-17C>A rs2540458063
NM_017617.5(NOTCH1):c.1556-19C>G
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] rs747100045
NM_017617.5(NOTCH1):c.1556-23TCCCC[4] rs747100045
NM_017617.5(NOTCH1):c.1556-23_1556-20del rs1375225950
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.1570C>T (p.Leu524=)
NM_017617.5(NOTCH1):c.1591G>A (p.Glu531Lys) rs937879671
NM_017617.5(NOTCH1):c.1599C>A (p.Ala533=) rs1304388033
NM_017617.5(NOTCH1):c.1669+18C>T
NM_017617.5(NOTCH1):c.1669+9_1669+10inv
NM_017617.5(NOTCH1):c.1670-10_1670-9inv
NM_017617.5(NOTCH1):c.1670-20C>T
NM_017617.5(NOTCH1):c.168A>G (p.Arg56=) rs779582015
NM_017617.5(NOTCH1):c.1695G>A (p.Val565=)
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=) rs1017787746
NM_017617.5(NOTCH1):c.1740C>T (p.Cys580=) rs2540456948
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.1794C>T (p.His598=) rs1261287469
NM_017617.5(NOTCH1):c.1809C>T (p.Asn603=) rs2133363733
NM_017617.5(NOTCH1):c.1830G>A (p.Gln610=) rs2133363599
NM_017617.5(NOTCH1):c.1833C>G (p.Pro611=)
NM_017617.5(NOTCH1):c.1848C>A (p.Gly616=) rs776185489
NM_017617.5(NOTCH1):c.1851C>T (p.Thr617=) rs761199261
NM_017617.5(NOTCH1):c.1857G>A (p.Gln619=) rs772435714
NM_017617.5(NOTCH1):c.186G>A (p.Pro62=) rs374320445
NM_017617.5(NOTCH1):c.1892A>C (p.Lys631Thr)
NM_017617.5(NOTCH1):c.1897A>T (p.Thr633Ser)
NM_017617.5(NOTCH1):c.1899C>G (p.Thr633=) rs754684715
NM_017617.5(NOTCH1):c.189C>T (p.Cys63=)
NM_017617.5(NOTCH1):c.1903+14C>G rs370541870
NM_017617.5(NOTCH1):c.1903+15G>C
NM_017617.5(NOTCH1):c.1903+7G>A rs760116150
NM_017617.5(NOTCH1):c.1903+7G>T rs760116150
NM_017617.5(NOTCH1):c.1904-10A>C
NM_017617.5(NOTCH1):c.1904-16C>A rs775848413
NM_017617.5(NOTCH1):c.1904-16C>T rs775848413
NM_017617.5(NOTCH1):c.1904-20G>C rs762328294
NM_017617.5(NOTCH1):c.1904-9C>T rs2133362915
NM_017617.5(NOTCH1):c.1911C>T (p.Asn637=)
NM_017617.5(NOTCH1):c.1915G>A (p.Glu639Lys) rs779794980
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 rs1589065951
NM_017617.5(NOTCH1):c.2014+11C>T rs1348123089
NM_017617.5(NOTCH1):c.2014+17G>A rs117807334
NM_017617.5(NOTCH1):c.2014+17G>T rs117807334
NM_017617.5(NOTCH1):c.2014+20G>A
NM_017617.5(NOTCH1):c.2015-10C>T rs2540455003
NM_017617.5(NOTCH1):c.2015-11C>T rs1206401301
NM_017617.5(NOTCH1):c.2015-13G>C rs772867940
NM_017617.5(NOTCH1):c.2015-5C>G
NM_017617.5(NOTCH1):c.2015-8G>A
NM_017617.5(NOTCH1):c.201C>A (p.Pro67=) rs764636339
NM_017617.5(NOTCH1):c.2026A>T (p.Asn676Tyr) rs1224303901
NM_017617.5(NOTCH1):c.2056C>T (p.Pro686Ser) rs1178627457
NM_017617.5(NOTCH1):c.2076C>T (p.Thr692=)
NM_017617.5(NOTCH1):c.2083G>T (p.Asp695Tyr) rs767162403
NM_017617.5(NOTCH1):c.2103C>A (p.Thr701=) rs1359387399
NM_017617.5(NOTCH1):c.2103C>G (p.Thr701=) rs1359387399
NM_017617.5(NOTCH1):c.2118G>A (p.Glu706=) rs1564196927
NM_017617.5(NOTCH1):c.2208-10C>T rs2540453174
NM_017617.5(NOTCH1):c.2208-11C>G rs2540453178
NM_017617.5(NOTCH1):c.2208-14G>C rs2540453182
NM_017617.5(NOTCH1):c.2218G>T (p.Asp740Tyr) rs200816814
NM_017617.5(NOTCH1):c.2244C>A (p.Thr748=) rs1344101185
NM_017617.5(NOTCH1):c.2296G>A (p.Gly766Ser) rs768836936
NM_017617.5(NOTCH1):c.2318G>T (p.Ser773Ile) rs758073507
NM_017617.5(NOTCH1):c.2326G>T (p.Val776Leu) rs377286829
NM_017617.5(NOTCH1):c.232G>A (p.Asp78Asn) rs1564203920
NM_017617.5(NOTCH1):c.2334C>T (p.Thr778=) rs1246624794
NM_017617.5(NOTCH1):c.2346C>A (p.Gly782=) rs1564196226
NM_017617.5(NOTCH1):c.2353+11T>A rs947426537
NM_017617.5(NOTCH1):c.2354-16G>A rs1843210355
NM_017617.5(NOTCH1):c.2354-6C>T rs1405914952
NM_017617.5(NOTCH1):c.2354-8C>T rs779665060
NM_017617.5(NOTCH1):c.2354-9T>C rs2540452322
NM_017617.5(NOTCH1):c.240A>G (p.Arg80=) rs2133379499
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=) rs774284462
NM_017617.5(NOTCH1):c.2439C>T (p.Tyr813=) rs1057515422
NM_017617.5(NOTCH1):c.243C>T (p.Gly81=)
NM_017617.5(NOTCH1):c.2448C>T (p.Asn816=) rs1422745093
NM_017617.5(NOTCH1):c.2456T>C (p.Leu819Pro)
NM_017617.5(NOTCH1):c.2459C>A (p.Pro820His)
NM_017617.5(NOTCH1):c.2460C>G (p.Pro820=) rs1456445004
NM_017617.5(NOTCH1):c.2467+7G>T rs1843207149
NM_017617.5(NOTCH1):c.2468-10C>T rs2133355112
NM_017617.5(NOTCH1):c.2468-4G>T
NM_017617.5(NOTCH1):c.2468-5C>T rs932196144
NM_017617.5(NOTCH1):c.2468-6C>G rs2133355089
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=) rs2133354982
NM_017617.5(NOTCH1):c.2496G>A (p.Pro832=) rs61751551
NM_017617.5(NOTCH1):c.2502C>T (p.Ala834=)
NM_017617.5(NOTCH1):c.2505C>T (p.Pro835=)
NM_017617.5(NOTCH1):c.2514C>T (p.Cys838=) rs1554728839
NM_017617.5(NOTCH1):c.2521G>C (p.Gly841Arg) rs369259434
NM_017617.5(NOTCH1):c.2529G>A (p.Glu843=) rs1191070636
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+18C>G
NM_017617.5(NOTCH1):c.2587+19C>T rs577190264
NM_017617.5(NOTCH1):c.2588-11C>G rs375851186
NM_017617.5(NOTCH1):c.2588-13T>C
NM_017617.5(NOTCH1):c.2588-17del rs2540448472
NM_017617.5(NOTCH1):c.2588-20G>A rs371359766
NM_017617.5(NOTCH1):c.2588-20G>C rs371359766
NM_017617.5(NOTCH1):c.2588-7C>T rs2540448455
NM_017617.5(NOTCH1):c.258C>G (p.Ala86=) rs2133379442
NM_017617.5(NOTCH1):c.2631G>C (p.Pro877=) rs777573424
NM_017617.5(NOTCH1):c.2636G>T (p.Arg879Leu) rs368011392
NM_017617.5(NOTCH1):c.2645C>T (p.Ala882Val)
NM_017617.5(NOTCH1):c.2673C>T (p.Tyr891=) rs2133353216
NM_017617.5(NOTCH1):c.271C>T (p.Leu91=) rs1589072636
NM_017617.5(NOTCH1):c.2740+12C>A rs36119806
NM_017617.5(NOTCH1):c.2740+12C>G rs36119806
NM_017617.5(NOTCH1):c.2740+16del rs757089079
NM_017617.5(NOTCH1):c.2740+17C>T rs1805326048
NM_017617.5(NOTCH1):c.2740+18T>C rs2133352777
NM_017617.5(NOTCH1):c.2741-12G>C rs370769571
NM_017617.5(NOTCH1):c.2741-17C>T rs771595991
NM_017617.5(NOTCH1):c.2741-6T>A rs2133351503
NM_017617.5(NOTCH1):c.2742C>T (p.Asn914=)
NM_017617.5(NOTCH1):c.2757G>A (p.Gly919=) rs1843152166
NM_017617.5(NOTCH1):c.2760C>T (p.Gly920=)
NM_017617.5(NOTCH1):c.2786C>A (p.Ala929Asp) rs1218875928
NM_017617.5(NOTCH1):c.2802G>A (p.Leu934=) rs2133351141
NM_017617.5(NOTCH1):c.2802G>T (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.2864G>T (p.Arg955Leu)
NM_017617.5(NOTCH1):c.2867A>G (p.Asn956Ser)
NM_017617.5(NOTCH1):c.2871G>T (p.Gly957=) rs1311601303
NM_017617.5(NOTCH1):c.2883G>T (p.Thr961=) rs774785001
NM_017617.5(NOTCH1):c.2909C>T (p.Thr970Ile)
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 rs7864720
NM_017617.5(NOTCH1):c.2969+9G>A rs1185506770
NM_017617.5(NOTCH1):c.2970-10C>T rs2133349102
NM_017617.5(NOTCH1):c.2970-20G>T rs367927174
NM_017617.5(NOTCH1):c.2970-7C>T rs1474312116
NM_017617.5(NOTCH1):c.2970-8C>T
NM_017617.5(NOTCH1):c.2970-9C>G rs568052902
NM_017617.5(NOTCH1):c.297G>C (p.Leu99=)
NM_017617.5(NOTCH1):c.3022C>T (p.Leu1008=)
NM_017617.5(NOTCH1):c.3036C>T (p.Gly1012=) rs2540444415
NM_017617.5(NOTCH1):c.3042G>C (p.Thr1014=) rs371532644
NM_017617.5(NOTCH1):c.3045C>T (p.Gly1015=) rs2133348920
NM_017617.5(NOTCH1):c.304C>T (p.Leu102=) rs1468241000
NM_017617.5(NOTCH1):c.3057G>A (p.Gln1019=)
NM_017617.5(NOTCH1):c.3067A>G (p.Asn1023Asp) rs1436414503
NM_017617.5(NOTCH1):c.3087C>A (p.Pro1029=) rs1278575888
NM_017617.5(NOTCH1):c.3087C>T (p.Pro1029=) rs1278575888
NM_017617.5(NOTCH1):c.3126C>T (p.Ser1042=)
NM_017617.5(NOTCH1):c.3141C>T (p.Cys1047=) rs1221606038
NM_017617.5(NOTCH1):c.3150C>A (p.Gly1050=) rs1060504523
NM_017617.5(NOTCH1):c.3156T>G (p.Thr1052=) rs2540444144
NM_017617.5(NOTCH1):c.3160C>T (p.Pro1054Ser) rs1018501056
NM_017617.5(NOTCH1):c.3171+14C>G rs2540444078
NM_017617.5(NOTCH1):c.3172-14C>T rs2133347807
NM_017617.5(NOTCH1):c.3172-4C>G rs751720939
NM_017617.5(NOTCH1):c.3172-4C>T rs751720939
NM_017617.5(NOTCH1):c.3172-5C>G rs762077987
NM_017617.5(NOTCH1):c.3192C>T (p.Asp1064=) rs587778565
NM_017617.5(NOTCH1):c.3261C>A (p.Ser1087Arg) rs543586029
NM_017617.5(NOTCH1):c.3262G>A (p.Gly1088Ser) rs531420022
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+12T>C
NM_017617.5(NOTCH1):c.3325+18C>T rs762473735
NM_017617.5(NOTCH1):c.3325+8G>A
NM_017617.5(NOTCH1):c.3326-14C>G rs1843119201
NM_017617.5(NOTCH1):c.3326-15C>A rs371180086
NM_017617.5(NOTCH1):c.3326-17C>T
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=) rs748468291
NM_017617.5(NOTCH1):c.3350A>G (p.Gln1117Arg) rs764816819
NM_017617.5(NOTCH1):c.3356G>A (p.Gly1119Glu) rs765929402
NM_017617.5(NOTCH1):c.3372C>T (p.Asp1124=) rs530959956
NM_017617.5(NOTCH1):c.3383C>T (p.Thr1128Met) rs1340595829
NM_017617.5(NOTCH1):c.338A>G (p.Asn113Ser) rs1416140685
NM_017617.5(NOTCH1):c.3426T>C (p.Cys1142=) rs2540442347
NM_017617.5(NOTCH1):c.3477C>T (p.Thr1159=)
NM_017617.5(NOTCH1):c.3495C>A (p.Gly1165=) rs778909557
NM_017617.5(NOTCH1):c.3504C>G (p.Ser1168=) rs1475139232
NM_017617.5(NOTCH1):c.3504C>T (p.Ser1168=) rs1475139232
NM_017617.5(NOTCH1):c.3510+16A>C
NM_017617.5(NOTCH1):c.3510+9C>T rs2133346142
NM_017617.5(NOTCH1):c.3511-18G>A rs780629106
NM_017617.5(NOTCH1):c.3511-18G>T rs780629106
NM_017617.5(NOTCH1):c.3511-8C>T
NM_017617.5(NOTCH1):c.3525C>T (p.Tyr1175=)
NM_017617.5(NOTCH1):c.3542C>T (p.Ser1181Phe) rs766409196
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.3579G>A (p.Gln1193=) rs61751544
NM_017617.5(NOTCH1):c.3585G>A (p.Gly1195=) rs1843105001
NM_017617.5(NOTCH1):c.3660C>T (p.Ile1220=) rs2133344309
NM_017617.5(NOTCH1):c.3693C>G (p.Pro1231=) rs1330174392
NM_017617.5(NOTCH1):c.36G>T (p.Ala12=) rs1843806561
NM_017617.5(NOTCH1):c.3704G>A (p.Ser1235Asn)
NM_017617.5(NOTCH1):c.3768G>T (p.Pro1256=) rs779987984
NM_017617.5(NOTCH1):c.378G>A (p.Lys126=)
NM_017617.5(NOTCH1):c.3808G>A (p.Glu1270Lys)
NM_017617.5(NOTCH1):c.3813C>T (p.Cys1271=) rs1471864651
NM_017617.5(NOTCH1):c.3819C>G (p.Ser1273=) rs2133343514
NM_017617.5(NOTCH1):c.3853G>T (p.Val1285Leu) rs756972680
NM_017617.5(NOTCH1):c.387C>T (p.Cys129=) rs2133378931
NM_017617.5(NOTCH1):c.3901+9C>A rs370537711
NM_017617.5(NOTCH1):c.3902-5C>T rs1370033409
NM_017617.5(NOTCH1):c.3902-6C>T rs1226411358
NM_017617.5(NOTCH1):c.390G>C (p.Pro130=) rs61751559
NM_017617.5(NOTCH1):c.390G>T (p.Pro130=) rs61751559
NM_017617.5(NOTCH1):c.3915G>A (p.Glu1305=) rs1554728133
NM_017617.5(NOTCH1):c.3918C>G (p.Ser1306=)
NM_017617.5(NOTCH1):c.4004A>G (p.Lys1335Arg)
NM_017617.5(NOTCH1):c.4014+9A>G rs1843087537
NM_017617.5(NOTCH1):c.4015-19T>C rs2133341407
NM_017617.5(NOTCH1):c.4015-7C>G rs761783451
NM_017617.5(NOTCH1):c.4029C>A (p.Ala1343=) rs969014492
NM_017617.5(NOTCH1):c.403+14C>T rs775509031
NM_017617.5(NOTCH1):c.403+16C>T rs1431415829
NM_017617.5(NOTCH1):c.403+18G>A
NM_017617.5(NOTCH1):c.403+19C>T rs1240391047
NM_017617.5(NOTCH1):c.4031C>T (p.Thr1344Met) rs201215245
NM_017617.5(NOTCH1):c.4032G>A (p.Thr1344=) rs778180538
NM_017617.5(NOTCH1):c.404-5T>C rs1229789449
NM_017617.5(NOTCH1):c.404-6C>G rs1192551116
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=) rs2540468627
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) rs764931034
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.4197C>T (p.Asn1399=) rs989398598
NM_017617.5(NOTCH1):c.4212G>A (p.Glu1404=) rs2133340344
NM_017617.5(NOTCH1):c.4221C>A (p.Ser1407=)
NM_017617.5(NOTCH1):c.4236C>T (p.Tyr1412=) rs2133340241
NM_017617.5(NOTCH1):c.4266G>A (p.Gly1422=) rs1366218391
NM_017617.5(NOTCH1):c.4270T>C (p.Leu1424=)
NM_017617.5(NOTCH1):c.4278C>T (p.His1426=)
NM_017617.5(NOTCH1):c.4287C>T (p.Asp1429=) rs2133339971
NM_017617.5(NOTCH1):c.429G>T (p.Pro143=) rs757406877
NM_017617.5(NOTCH1):c.4325C>G (p.Pro1442Arg) rs766146375
NM_017617.5(NOTCH1):c.4335C>T (p.Ile1445=) rs373960609
NM_017617.5(NOTCH1):c.433G>T (p.Ala145Ser) rs1388726872
NM_017617.5(NOTCH1):c.4350G>A (p.Glu1450=)
NM_017617.5(NOTCH1):c.4356C>A (p.Pro1452=) rs770281345
NM_017617.5(NOTCH1):c.4374G>C (p.Ala1458=) rs777768691
NM_017617.5(NOTCH1):c.4383G>A (p.Lys1461=) rs2133339457
NM_017617.5(NOTCH1):c.4389C>T (p.Cys1463=) rs2133339423
NM_017617.5(NOTCH1):c.438C>T (p.Ser146=) rs1589072128
NM_017617.5(NOTCH1):c.4440C>T (p.Ser1480=)
NM_017617.5(NOTCH1):c.4443C>T (p.Leu1481=) rs2133339138
NM_017617.5(NOTCH1):c.4452T>C (p.Asn1484=)
NM_017617.5(NOTCH1):c.4470C>T (p.Cys1490=) rs2133339014
NM_017617.5(NOTCH1):c.4480C>T (p.Leu1494=) rs983196591
NM_017617.5(NOTCH1):c.4482G>A (p.Leu1494=) rs1443043549
NM_017617.5(NOTCH1):c.4497C>T (p.Tyr1499=) rs1843064502
NM_017617.5(NOTCH1):c.4518C>T (p.Asp1506=)
NM_017617.5(NOTCH1):c.4548C>G (p.Phe1516Leu) rs199740882
NM_017617.5(NOTCH1):c.4560C>T (p.Asp1520=) rs1057523575
NM_017617.5(NOTCH1):c.4563C>T (p.Cys1521=)
NM_017617.5(NOTCH1):c.4586+11G>A rs777578180
NM_017617.5(NOTCH1):c.4586+11G>C rs777578180
NM_017617.5(NOTCH1):c.4586+14G>A rs1843063017
NM_017617.5(NOTCH1):c.4586+17C>T rs1303173123
NM_017617.5(NOTCH1):c.4587-10C>A rs1304952326
NM_017617.5(NOTCH1):c.4587-10C>T rs1304952326
NM_017617.5(NOTCH1):c.4587-16G>T
NM_017617.5(NOTCH1):c.4587-4A>G rs2133337921
NM_017617.5(NOTCH1):c.4587-5C>T rs780617240
NM_017617.5(NOTCH1):c.4587-8C>A rs1470543120
NM_017617.5(NOTCH1):c.4590C>G (p.Pro1530=) rs1357545431
NM_017617.5(NOTCH1):c.45C>T (p.Pro15=) rs764936481
NM_017617.5(NOTCH1):c.4609A>G (p.Lys1537Glu)
NM_017617.5(NOTCH1):c.4624G>A (p.Asp1542Asn) rs1339004050
NM_017617.5(NOTCH1):c.4659G>A (p.Glu1553=) rs968015762
NM_017617.5(NOTCH1):c.4664A>T (p.Glu1555Val) rs781602537
NM_017617.5(NOTCH1):c.4674G>T (p.Gly1558=)
NM_017617.5(NOTCH1):c.4677G>A (p.Leu1559=)
NM_017617.5(NOTCH1):c.4680C>T (p.Asp1560=)
NM_017617.5(NOTCH1):c.4720C>T (p.Leu1574=) rs2133337220
NM_017617.5(NOTCH1):c.4758C>T (p.Arg1586=)
NM_017617.5(NOTCH1):c.475G>C (p.Glu159Gln) rs1238603957
NM_017617.5(NOTCH1):c.4761C>T (p.Asn1587=) rs777947269
NM_017617.5(NOTCH1):c.4767C>T (p.Ser1589=)
NM_017617.5(NOTCH1):c.4788C>T (p.Leu1596=) rs2133336800
NM_017617.5(NOTCH1):c.4791C>T (p.Ser1597=) rs2540435486
NM_017617.5(NOTCH1):c.4794C>G (p.Arg1598=) rs558708604
NM_017617.5(NOTCH1):c.4806C>G (p.Thr1602=) rs2133336674
NM_017617.5(NOTCH1):c.4812G>C (p.Val1604=) rs2133336647
NM_017617.5(NOTCH1):c.4814T>C (p.Val1605Ala) rs762734252
NM_017617.5(NOTCH1):c.4828G>A (p.Ala1610Thr)
NM_017617.5(NOTCH1):c.4851C>T (p.Phe1617=)
NM_017617.5(NOTCH1):c.4857C>T (p.Tyr1619=) rs1843053321
NM_017617.5(NOTCH1):c.4861G>A (p.Gly1621Ser) rs867637156
NM_017617.5(NOTCH1):c.4866C>G (p.Arg1622=) rs772314400
NM_017617.5(NOTCH1):c.4897C>A (p.Arg1633Ser) rs1247642509
NM_017617.5(NOTCH1):c.4902C>G (p.Ala1634=) rs1450251041
NM_017617.5(NOTCH1):c.4902C>T (p.Ala1634=) rs1450251041
NM_017617.5(NOTCH1):c.4911C>G (p.Gly1637=) rs953232466
NM_017617.5(NOTCH1):c.4917C>A (p.Ala1639=) rs371365065
NM_017617.5(NOTCH1):c.4932G>C (p.Leu1644=) rs1843050710
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.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.5018+17G>A
NM_017617.5(NOTCH1):c.5019-10G>A rs748043575
NM_017617.5(NOTCH1):c.5019-10G>T
NM_017617.5(NOTCH1):c.5019-18C>T rs2133333844
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=) rs932485586
NM_017617.5(NOTCH1):c.5047C>A (p.Arg1683=)
NM_017617.5(NOTCH1):c.5064C>G (p.Ala1688=) rs2133333563
NM_017617.5(NOTCH1):c.5073G>C (p.Gln1691His) rs61751538
NM_017617.5(NOTCH1):c.5118C>G (p.Leu1706=) rs747037396
NM_017617.5(NOTCH1):c.5119G>A (p.Ala1707Thr) rs1216073441
NM_017617.5(NOTCH1):c.5124G>A (p.Ser1708=) rs35980907
NM_017617.5(NOTCH1):c.5154C>A (p.Ile1718=) rs755764089
NM_017617.5(NOTCH1):c.5155G>A (p.Glu1719Lys) rs750085425
NM_017617.5(NOTCH1):c.5167+13C>T
NM_017617.5(NOTCH1):c.5167+18C>A rs2133333042
NM_017617.5(NOTCH1):c.5167+19C>G rs751046078
NM_017617.5(NOTCH1):c.5168-13C>T
NM_017617.5(NOTCH1):c.5168-16G>A rs2133331940
NM_017617.5(NOTCH1):c.5168-18del rs1564189116
NM_017617.5(NOTCH1):c.5168-5C>G rs757370134
NM_017617.5(NOTCH1):c.5168-7C>T rs1589056781
NM_017617.5(NOTCH1):c.5168-8G>A rs781506247
NM_017617.5(NOTCH1):c.5187C>G (p.Pro1729=)
NM_017617.5(NOTCH1):c.5195C>T (p.Ala1732Val) rs768040014
NM_017617.5(NOTCH1):c.51C>T (p.Leu17=) rs1478932209
NM_017617.5(NOTCH1):c.5201T>A (p.Leu1734Gln) rs780546252
NM_017617.5(NOTCH1):c.5215G>A (p.Val1739Met) rs377294245
NM_017617.5(NOTCH1):c.525C>T (p.Cys175=) rs1843400148
NM_017617.5(NOTCH1):c.5266C>T (p.Leu1756=) rs746342953
NM_017617.5(NOTCH1):c.5272C>T (p.Arg1758Cys) rs777859108
NM_017617.5(NOTCH1):c.5298G>A (p.Gln1766=) rs1375287179
NM_017617.5(NOTCH1):c.5307C>T (p.Phe1769=) rs1400804279
NM_017617.5(NOTCH1):c.5358C>T (p.Pro1786=) rs2133330909
NM_017617.5(NOTCH1):c.5370C>T (p.Asp1790=) rs2133330858
NM_017617.5(NOTCH1):c.5384+16C>T
NM_017617.5(NOTCH1):c.5384+8G>A rs2133330740
NM_017617.5(NOTCH1):c.5385-10C>T rs2133330224
NM_017617.5(NOTCH1):c.5385-17G>A rs746960421
NM_017617.5(NOTCH1):c.5385-5C>A
NM_017617.5(NOTCH1):c.5385-7C>T rs752418831
NM_017617.5(NOTCH1):c.5385-9A>G rs2133330218
NM_017617.5(NOTCH1):c.5388C>T (p.Pro1796=) rs1275033891
NM_017617.5(NOTCH1):c.5394G>A (p.Lys1798=) rs2133330146
NM_017617.5(NOTCH1):c.5412C>T (p.Ala1804=)
NM_017617.5(NOTCH1):c.5438G>C (p.Trp1813Ser) rs755659037
NM_017617.5(NOTCH1):c.5472+15T>A rs2133329650
NM_017617.5(NOTCH1):c.5472+18C>A rs199812169
NM_017617.5(NOTCH1):c.5472+18C>G rs199812169
NM_017617.5(NOTCH1):c.5472+19G>A rs755674060
NM_017617.5(NOTCH1):c.5472+19G>C rs755674060
NM_017617.5(NOTCH1):c.5472+8G>T rs776640246
NM_017617.5(NOTCH1):c.5473-15A>C rs969732701
NM_017617.5(NOTCH1):c.5473-6A>T
NM_017617.5(NOTCH1):c.5475C>T (p.Phe1825=) rs778371465
NM_017617.5(NOTCH1):c.5502G>C (p.Leu1834=) rs1259279311
NM_017617.5(NOTCH1):c.5532T>C (p.Thr1844=) rs775425067
NM_017617.5(NOTCH1):c.553A>C (p.Lys185Gln) rs1279772014
NM_017617.5(NOTCH1):c.5561G>A (p.Arg1854His) rs878855028
NM_017617.5(NOTCH1):c.5571C>T (p.Ala1857=) rs2133328807
NM_017617.5(NOTCH1):c.5586G>A (p.Pro1862=)
NM_017617.5(NOTCH1):c.5631C>A (p.Arg1877=) rs35627681
NM_017617.5(NOTCH1):c.5638+19A>C rs368675083
NM_017617.5(NOTCH1):c.5639-10G>C rs1842984290
NM_017617.5(NOTCH1):c.5639-11T>C
NM_017617.5(NOTCH1):c.5639-19C>A rs542364356
NM_017617.5(NOTCH1):c.5639-19C>T
NM_017617.5(NOTCH1):c.5639-7T>C rs1842984230
NM_017617.5(NOTCH1):c.5661C>T (p.Ile1887=) rs750185397
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.5733C>A (p.Ser1911=) rs61751534
NM_017617.5(NOTCH1):c.5742C>T (p.Ile1914=) rs2133326363
NM_017617.5(NOTCH1):c.5751C>A (p.Gly1917=) rs752199771
NM_017617.5(NOTCH1):c.5751C>T (p.Gly1917=) rs752199771
NM_017617.5(NOTCH1):c.5757C>T (p.Ser1919=)
NM_017617.5(NOTCH1):c.5772A>C (p.Thr1924=) rs957720015
NM_017617.5(NOTCH1):c.5777G>T (p.Arg1926Leu) rs771407924
NM_017617.5(NOTCH1):c.5814C>T (p.Tyr1938=) rs1209737669
NM_017617.5(NOTCH1):c.5820C>T (p.Arg1940=) rs780935897
NM_017617.5(NOTCH1):c.5829C>A (p.Ala1943=) rs1036442909
NM_017617.5(NOTCH1):c.582C>T (p.Thr194=)
NM_017617.5(NOTCH1):c.5856A>G (p.Ala1952=) rs1842980218
NM_017617.5(NOTCH1):c.5907G>A (p.Val1969=) rs368798587
NM_017617.5(NOTCH1):c.5919A>G (p.Ala1973=) rs781224907
NM_017617.5(NOTCH1):c.5934+12C>G rs1337945416
NM_017617.5(NOTCH1):c.5934+20G>A rs753245844
NM_017617.5(NOTCH1):c.5935-10T>G
NM_017617.5(NOTCH1):c.5935-14T>C
NM_017617.5(NOTCH1):c.5935-5C>T
NM_017617.5(NOTCH1):c.5944C>A (p.Arg1982=) rs764422420
NM_017617.5(NOTCH1):c.5952A>G (p.Arg1984=) rs2133323187
NM_017617.5(NOTCH1):c.6009C>T (p.Ala2003=) rs2133322877
NM_017617.5(NOTCH1):c.6018C>T (p.Ala2006=) rs748935957
NM_017617.5(NOTCH1):c.6027C>T (p.Gly2009=) rs1232741465
NM_017617.5(NOTCH1):c.6054C>A (p.His2018Gln) rs202198360
NM_017617.5(NOTCH1):c.6055G>A (p.Ala2019Thr) rs3812597
NM_017617.5(NOTCH1):c.6063C>T (p.Val2021=) rs1589054533
NM_017617.5(NOTCH1):c.6082+11G>A rs775315894
NM_017617.5(NOTCH1):c.6082+15G>T
NM_017617.5(NOTCH1):c.6082+16C>T
NM_017617.5(NOTCH1):c.6083-17C>A
NM_017617.5(NOTCH1):c.6083-20C>T
NM_017617.5(NOTCH1):c.608G>A (p.Arg203His) rs182763411
NM_017617.5(NOTCH1):c.6090C>G (p.Ser2030=) rs773621396
NM_017617.5(NOTCH1):c.6094C>T (p.Leu2032=) rs1060504525
NM_017617.5(NOTCH1):c.6096G>A (p.Leu2032=) rs2133321884
NM_017617.5(NOTCH1):c.61+18C>A rs2540494851
NM_017617.5(NOTCH1):c.61+8C>T rs2540494876
NM_017617.5(NOTCH1):c.6111C>A (p.Ala2037=) rs749488166
NM_017617.5(NOTCH1):c.6117C>T (p.Asn2039=) rs2133321780
NM_017617.5(NOTCH1):c.6129C>G (p.Ala2043=)
NM_017617.5(NOTCH1):c.6129C>T (p.Ala2043=) rs563053477
NM_017617.5(NOTCH1):c.6138G>A (p.Val2046=) rs2133321656
NM_017617.5(NOTCH1):c.6153G>A (p.Gly2051=) rs1554826678
NM_017617.5(NOTCH1):c.6174C>T (p.Asn2058=)
NM_017617.5(NOTCH1):c.6177C>T (p.Asn2059=) rs992614355
NM_017617.5(NOTCH1):c.6180+11G>T rs2133321375
NM_017617.5(NOTCH1):c.6180+13C>A rs1303958303
NM_017617.5(NOTCH1):c.6180+19T>C rs2133321339
NM_017617.5(NOTCH1):c.6180+9G>C rs200371378
NM_017617.5(NOTCH1):c.6180+9G>T rs200371378
NM_017617.5(NOTCH1):c.6181-12C>G rs1842937363
NM_017617.5(NOTCH1):c.6181-14C>T
NM_017617.5(NOTCH1):c.6181-7C>G rs1283606239
NM_017617.5(NOTCH1):c.6192C>T (p.Pro2064=) rs1232916828
NM_017617.5(NOTCH1):c.62-14C>T rs1426366565
NM_017617.5(NOTCH1):c.62-15_62-13del rs1195067627
NM_017617.5(NOTCH1):c.62-16T>G rs1164452688
NM_017617.5(NOTCH1):c.62-17C>G rs1843775605
NM_017617.5(NOTCH1):c.62-4C>T rs1211170407
NM_017617.5(NOTCH1):c.62-5C>A rs1758856551
NM_017617.5(NOTCH1):c.62-9C>G
NM_017617.5(NOTCH1):c.6231C>T (p.Ala2077=)
NM_017617.5(NOTCH1):c.6234G>A (p.Lys2078=) rs1485488069
NM_017617.5(NOTCH1):c.6291G>T (p.Pro2097=) rs201987555
NM_017617.5(NOTCH1):c.6292C>T (p.Arg2098Cys) rs765618237
NM_017617.5(NOTCH1):c.6297C>T (p.Asp2099=)
NM_017617.5(NOTCH1):c.6300C>T (p.Ile2100=) rs773483690
NM_017617.5(NOTCH1):c.6324C>T (p.Asp2108=)
NM_017617.5(NOTCH1):c.633T>C (p.Thr211=)
NM_017617.5(NOTCH1):c.6349A>T (p.Asn2117Tyr) rs1394353648
NM_017617.5(NOTCH1):c.6363C>G (p.Ser2121Arg) rs61751533
NM_017617.5(NOTCH1):c.636C>T (p.Gly212=) rs1843397551
NM_017617.5(NOTCH1):c.6387G>T (p.Leu2129=) rs2133318848
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.6402C>T (p.Thr2134=) rs2133318771
NM_017617.5(NOTCH1):c.6423G>A (p.Ser2141=) rs557375925
NM_017617.5(NOTCH1):c.6423G>T (p.Ser2141=) rs557375925
NM_017617.5(NOTCH1):c.6466A>G (p.Lys2156Glu) rs756659419
NM_017617.5(NOTCH1):c.6480G>A (p.Lys2160=) rs1842931843
NM_017617.5(NOTCH1):c.6495C>T (p.Gly2165=) rs2133318284
NM_017617.5(NOTCH1):c.6496C>T (p.Leu2166=) rs2133318278
NM_017617.5(NOTCH1):c.651G>A (p.Arg217=) rs1165469738
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.6567C>T (p.Cys2189=) rs945483115
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.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.6624C>T (p.Gly2208=) rs1842929365
NM_017617.5(NOTCH1):c.6630G>A (p.Leu2210=) rs1589053186
NM_017617.5(NOTCH1):c.6639G>A (p.Val2213=) rs1177350288
NM_017617.5(NOTCH1):c.6639G>C (p.Val2213=)
NM_017617.5(NOTCH1):c.6651A>C (p.Pro2217=) rs1842928735
NM_017617.5(NOTCH1):c.6651A>G (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.6687G>A (p.Val2229=) rs1357742292
NM_017617.5(NOTCH1):c.669C>T (p.Ser223=) rs1589071892
NM_017617.5(NOTCH1):c.66G>A (p.Pro22=)
NM_017617.5(NOTCH1):c.6700C>T (p.Leu2234=) rs759021557
NM_017617.5(NOTCH1):c.6724C>T (p.Leu2242=) rs1589053091
NM_017617.5(NOTCH1):c.6732C>A (p.Ile2244=) rs1465354108
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=) rs773740881
NM_017617.5(NOTCH1):c.6773T>C (p.Leu2258Pro) rs772519230
NM_017617.5(NOTCH1):c.6852C>A (p.Thr2284=) rs777957099
NM_017617.5(NOTCH1):c.6879C>T (p.Ala2293=) rs1015422139
NM_017617.5(NOTCH1):c.6880C>T (p.Leu2294=) rs776850297
NM_017617.5(NOTCH1):c.6882G>A (p.Leu2294=)
NM_017617.5(NOTCH1):c.6889A>G (p.Thr2297Ala) rs748988550
NM_017617.5(NOTCH1):c.6894G>A (p.Val2298=) rs2540421501
NM_017617.5(NOTCH1):c.6903C>T (p.Ser2301=) rs1842923327
NM_017617.5(NOTCH1):c.6918T>C (p.Gly2306=)
NM_017617.5(NOTCH1):c.691G>A (p.Gly231Ser) rs1247729687
NM_017617.5(NOTCH1):c.6936C>T (p.Ser2312=) rs1190107678
NM_017617.5(NOTCH1):c.6951C>T (p.Gly2317=)
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.6G>A (p.Pro2=) rs2133408666
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.7083G>A (p.Gln2361=)
NM_017617.5(NOTCH1):c.7098G>A (p.Gln2366=) rs2540421103
NM_017617.5(NOTCH1):c.7119G>A (p.Leu2373=) rs1426618790
NM_017617.5(NOTCH1):c.7135C>T (p.Leu2379=) rs907960826
NM_017617.5(NOTCH1):c.7185G>A (p.Gln2395=)
NM_017617.5(NOTCH1):c.721C>T (p.His241Tyr) rs1251562545
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.7314G>C (p.Pro2438=) rs370442918
NM_017617.5(NOTCH1):c.736C>T (p.Leu246=) rs1418107633
NM_017617.5(NOTCH1):c.7382G>T (p.Ser2461Ile) rs750245108
NM_017617.5(NOTCH1):c.7389C>T (p.Ala2463=) rs2133315099
NM_017617.5(NOTCH1):c.7407A>G (p.Pro2469=) rs2540420335
NM_017617.5(NOTCH1):c.7412C>T (p.Ser2471Leu)
NM_017617.5(NOTCH1):c.742+12C>A rs1303732934
NM_017617.5(NOTCH1):c.742+12_742+19del rs896911472
NM_017617.5(NOTCH1):c.742+15T>C rs2540467872
NM_017617.5(NOTCH1):c.742+19C>T
NM_017617.5(NOTCH1):c.743-10C>T rs2540463864
NM_017617.5(NOTCH1):c.743-12C>G rs896117991
NM_017617.5(NOTCH1):c.743-19C>T rs2540463949
NM_017617.5(NOTCH1):c.7455C>G (p.Pro2485=) rs1414616532
NM_017617.5(NOTCH1):c.747C>T (p.Phe249=) rs2133372901
NM_017617.5(NOTCH1):c.7506A>G (p.Leu2502=) rs2133314462
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.753C>G (p.Gly251=)
NM_017617.5(NOTCH1):c.753C>T (p.Gly251=) rs757811287
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.7641C>A (p.Ile2547=) rs370124241
NM_017617.5(NOTCH1):c.774C>T (p.Ile258=) rs764542894
NM_017617.5(NOTCH1):c.792C>T (p.Asn264=) rs776687224
NM_017617.5(NOTCH1):c.800A>G (p.Lys267Arg)
NM_017617.5(NOTCH1):c.840C>G (p.Asn280Lys)
NM_017617.5(NOTCH1):c.865+15C>T
NM_017617.5(NOTCH1):c.865+18C>A rs55677618
NM_017617.5(NOTCH1):c.865+8T>C rs2540463561
NM_017617.5(NOTCH1):c.866-11G>C
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.919C>G (p.Gln307Glu)
NM_017617.5(NOTCH1):c.949G>C (p.Gly317Arg)

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.