ClinVar Miner

List of variants in gene NOTCH1 reported as uncertain significance by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 516
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HGVS dbSNP gnomAD frequency
NM_017617.5(NOTCH1):c.5506G>A (p.Asp1836Asn) rs200100726 0.00093
NM_017617.5(NOTCH1):c.6980G>A (p.Arg2327Gln) rs202065858 0.00088
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.3970G>A (p.Val1324Met) rs149057410 0.00048
NM_017617.5(NOTCH1):c.6409C>T (p.Pro2137Ser) rs372698234 0.00046
NM_017617.5(NOTCH1):c.1553C>T (p.Thr518Met) rs377535397 0.00044
NM_017617.5(NOTCH1):c.701G>A (p.Arg234His) rs150737112 0.00041
NM_017617.5(NOTCH1):c.4014G>A (p.Ala1338=) rs377217445 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.2674C>T (p.Arg892Cys) rs578228721 0.00031
NM_017617.5(NOTCH1):c.7223T>C (p.Leu2408Pro) rs767728582 0.00031
NM_017617.5(NOTCH1):c.5189C>T (p.Pro1730Leu) rs375897519 0.00024
NM_017617.5(NOTCH1):c.2263_2265del (p.Asn755del) rs587778559 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.2218G>A (p.Asp740Asn) rs200816814 0.00018
NM_017617.5(NOTCH1):c.3644-5C>T rs371070297 0.00018
NM_017617.5(NOTCH1):c.839A>G (p.Asn280Ser) rs367825691 0.00017
NM_017617.5(NOTCH1):c.2191C>T (p.Arg731Trp) rs199666126 0.00016
NM_017617.5(NOTCH1):c.3011C>T (p.Ser1004Leu) rs201163739 0.00016
NM_017617.5(NOTCH1):c.4988G>A (p.Arg1663Gln) rs749490844 0.00015
NM_017617.5(NOTCH1):c.*5C>T rs746945124 0.00014
NM_017617.5(NOTCH1):c.2354-5T>C rs371944522 0.00014
NM_017617.5(NOTCH1):c.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.2206G>A (p.Gly736Arg) rs201662530 0.00013
NM_017617.5(NOTCH1):c.851C>T (p.Pro284Leu) rs376104770 0.00013
NM_017617.5(NOTCH1):c.2359A>G (p.Asn787Asp) rs199672693 0.00011
NM_017617.5(NOTCH1):c.2863C>T (p.Arg955Cys) rs370797169 0.00011
NM_017617.5(NOTCH1):c.4828G>T (p.Ala1610Ser) rs369467132 0.00011
NM_017617.5(NOTCH1):c.5273G>A (p.Arg1758His) rs373841359 0.00011
NM_017617.5(NOTCH1):c.6938G>A (p.Arg2313Gln) rs371069660 0.00011
NM_017617.5(NOTCH1):c.1295C>T (p.Thr432Met) rs200562991 0.00010
NM_017617.5(NOTCH1):c.2636G>A (p.Arg879Gln) rs368011392 0.00010
NM_017617.5(NOTCH1):c.4096G>A (p.Gly1366Ser) rs778270588 0.00010
NM_017617.5(NOTCH1):c.4372G>A (p.Ala1458Thr) rs200495793 0.00010
NM_017617.5(NOTCH1):c.4537G>A (p.Gly1513Ser) rs765844768 0.00010
NM_017617.5(NOTCH1):c.5414T>C (p.Leu1805Pro) rs201779159 0.00010
NM_017617.5(NOTCH1):c.4157C>T (p.Pro1386Leu) rs367710569 0.00009
NM_017617.5(NOTCH1):c.4652G>T (p.Ser1551Ile) rs774068657 0.00009
NM_017617.5(NOTCH1):c.527G>A (p.Arg176Gln) rs375065108 0.00009
NM_017617.5(NOTCH1):c.7645C>T (p.Arg2549Cys) rs200893930 0.00009
NM_017617.5(NOTCH1):c.1870G>A (p.Ala624Thr) rs372771179 0.00008
NM_017617.5(NOTCH1):c.4313G>A (p.Arg1438His) rs61751541 0.00008
NM_017617.5(NOTCH1):c.4373C>T (p.Ala1458Val) rs374352922 0.00008
NM_017617.5(NOTCH1):c.5224G>T (p.Ala1742Ser) rs760669267 0.00008
NM_017617.5(NOTCH1):c.7313C>T (p.Pro2438Leu) rs199777870 0.00008
NM_017617.5(NOTCH1):c.3853G>A (p.Val1285Met) rs756972680 0.00007
NM_017617.5(NOTCH1):c.4307C>T (p.Ala1436Val) rs371303106 0.00007
NM_017617.5(NOTCH1):c.4927G>A (p.Ala1643Thr) rs566680728 0.00007
NM_017617.5(NOTCH1):c.6283C>T (p.Arg2095Cys) rs780873661 0.00007
NM_017617.5(NOTCH1):c.7397C>T (p.Thr2466Met) rs369167555 0.00007
NM_017617.5(NOTCH1):c.1510C>T (p.Arg504Cys) rs752071569 0.00006
NM_017617.5(NOTCH1):c.1945C>A (p.Pro649Thr) rs780710009 0.00006
NM_017617.5(NOTCH1):c.2620G>A (p.Val874Ile) rs776698364 0.00006
NM_017617.5(NOTCH1):c.3001G>A (p.Gly1001Ser) rs763621169 0.00006
NM_017617.5(NOTCH1):c.3271G>A (p.Gly1091Ser) rs768095251 0.00006
NM_017617.5(NOTCH1):c.3338C>T (p.Ala1113Val) rs377351349 0.00006
NM_017617.5(NOTCH1):c.3788G>A (p.Arg1263His) rs377594681 0.00006
NM_017617.5(NOTCH1):c.4328C>T (p.Pro1443Leu) rs750010764 0.00006
NM_017617.5(NOTCH1):c.5776C>T (p.Arg1926Cys) rs199652954 0.00006
NM_017617.5(NOTCH1):c.7130C>T (p.Pro2377Leu) rs761839390 0.00006
NM_017617.5(NOTCH1):c.7292G>A (p.Arg2431Gln) rs753752321 0.00006
NM_017617.5(NOTCH1):c.7363A>G (p.Thr2455Ala) rs536167222 0.00006
NM_017617.5(NOTCH1):c.2521G>A (p.Gly841Ser) rs369259434 0.00005
NM_017617.5(NOTCH1):c.2744C>T (p.Pro915Leu) rs755058802 0.00005
NM_017617.5(NOTCH1):c.2783C>T (p.Thr928Met) rs764921648 0.00005
NM_017617.5(NOTCH1):c.2908A>G (p.Thr970Ala) rs201053795 0.00005
NM_017617.5(NOTCH1):c.3553G>A (p.Asp1185Asn) rs548083258 0.00005
NM_017617.5(NOTCH1):c.382C>T (p.Arg128Cys) rs371868900 0.00005
NM_017617.5(NOTCH1):c.4027G>A (p.Ala1343Thr) rs369654090 0.00005
NM_017617.5(NOTCH1):c.4238G>A (p.Arg1413His) rs371068504 0.00005
NM_017617.5(NOTCH1):c.4793G>A (p.Arg1598His) rs755124691 0.00005
NM_017617.5(NOTCH1):c.5183C>T (p.Pro1728Leu) rs766358616 0.00005
NM_017617.5(NOTCH1):c.6205G>A (p.Ala2069Thr) rs567909904 0.00005
NM_017617.5(NOTCH1):c.7016C>A (p.Ala2339Asp) rs773134608 0.00005
NM_017617.5(NOTCH1):c.7229C>T (p.Pro2410Leu) rs560981171 0.00005
NM_017617.5(NOTCH1):c.1864G>A (p.Asp622Asn) rs367873715 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.2576C>T (p.Thr859Met) rs199505287 0.00004
NM_017617.5(NOTCH1):c.3017C>T (p.Thr1006Ile) rs367860186 0.00004
NM_017617.5(NOTCH1):c.3373G>A (p.Ala1125Thr) rs767963898 0.00004
NM_017617.5(NOTCH1):c.3700C>T (p.Arg1234Trp) rs761304479 0.00004
NM_017617.5(NOTCH1):c.3989G>A (p.Arg1330His) rs1180096756 0.00004
NM_017617.5(NOTCH1):c.5017G>A (p.Gly1673Ser) rs1226514285 0.00004
NM_017617.5(NOTCH1):c.5168-4G>A rs751709616 0.00004
NM_017617.5(NOTCH1):c.5219C>T (p.Ala1740Val) rs777962754 0.00004
NM_017617.5(NOTCH1):c.6284G>A (p.Arg2095His) rs756874994 0.00004
NM_017617.5(NOTCH1):c.6383C>T (p.Pro2128Leu) rs770713134 0.00004
NM_017617.5(NOTCH1):c.6521A>G (p.Lys2174Arg) rs761602495 0.00004
NM_017617.5(NOTCH1):c.6727G>A (p.Gly2243Ser) rs61751491 0.00004
NM_017617.5(NOTCH1):c.7385C>T (p.Pro2462Leu) rs767435492 0.00004
NM_017617.5(NOTCH1):c.7498C>G (p.His2500Asp) rs763902589 0.00004
NM_017617.5(NOTCH1):c.773T>C (p.Ile258Thr) rs1217015143 0.00004
NM_017617.5(NOTCH1):c.1262A>G (p.Asn421Ser) rs928512979 0.00003
NM_017617.5(NOTCH1):c.128C>T (p.Thr43Met) rs371103280 0.00003
NM_017617.5(NOTCH1):c.1801G>A (p.Glu601Lys) rs749381544 0.00003
NM_017617.5(NOTCH1):c.2107C>T (p.Arg703Cys) rs746213819 0.00003
NM_017617.5(NOTCH1):c.2458C>T (p.Pro820Ser) rs1379596542 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.2995G>A (p.Val999Met) rs756840659 0.00003
NM_017617.5(NOTCH1):c.3510+3G>A rs372739350 0.00003
NM_017617.5(NOTCH1):c.3552C>T (p.Ile1184=) rs773375573 0.00003
NM_017617.5(NOTCH1):c.4013C>T (p.Ala1338Val) rs1397249771 0.00003
NM_017617.5(NOTCH1):c.4078G>A (p.Gly1360Ser) rs769493139 0.00003
NM_017617.5(NOTCH1):c.4918G>A (p.Ala1640Thr) rs976118697 0.00003
NM_017617.5(NOTCH1):c.500C>T (p.Pro167Leu) rs370951369 0.00003
NM_017617.5(NOTCH1):c.526C>T (p.Arg176Trp) rs575513935 0.00003
NM_017617.5(NOTCH1):c.5422G>A (p.Asp1808Asn) rs571739078 0.00003
NM_017617.5(NOTCH1):c.5573T>C (p.Met1858Thr) rs375102032 0.00003
NM_017617.5(NOTCH1):c.6313A>G (p.Met2105Val) rs748138179 0.00003
NM_017617.5(NOTCH1):c.6481C>T (p.Pro2161Ser) rs201518848 0.00003
NM_017617.5(NOTCH1):c.6760G>A (p.Glu2254Lys) rs1163673587 0.00003
NM_017617.5(NOTCH1):c.6770C>T (p.Ala2257Val) rs377112509 0.00003
NM_017617.5(NOTCH1):c.7115G>A (p.Arg2372Gln) rs373119531 0.00003
NM_017617.5(NOTCH1):c.1250C>T (p.Ser417Leu) rs757631575 0.00002
NM_017617.5(NOTCH1):c.148G>A (p.Gly50Arg) rs776758626 0.00002
NM_017617.5(NOTCH1):c.2068G>A (p.Gly690Arg) rs764112977 0.00002
NM_017617.5(NOTCH1):c.2441A>G (p.Lys814Arg) rs747529236 0.00002
NM_017617.5(NOTCH1):c.2812C>T (p.Arg938Trp) rs554142958 0.00002
NM_017617.5(NOTCH1):c.2903C>T (p.Thr968Met) rs781201059 0.00002
NM_017617.5(NOTCH1):c.2917G>A (p.Ala973Thr) rs200699541 0.00002
NM_017617.5(NOTCH1):c.3286G>A (p.Val1096Met) rs369730402 0.00002
NM_017617.5(NOTCH1):c.3679C>T (p.Pro1227Ser) rs777652834 0.00002
NM_017617.5(NOTCH1):c.3701G>A (p.Arg1234Gln) rs773926521 0.00002
NM_017617.5(NOTCH1):c.3741G>C (p.Gln1247His) rs781658171 0.00002
NM_017617.5(NOTCH1):c.4348G>A (p.Glu1450Lys) rs147841035 0.00002
NM_017617.5(NOTCH1):c.5023A>G (p.Ile1675Val) rs375408767 0.00002
NM_017617.5(NOTCH1):c.5050C>A (p.Gln1684Lys) rs1843029493 0.00002
NM_017617.5(NOTCH1):c.5069C>T (p.Ser1690Leu) rs552065719 0.00002
NM_017617.5(NOTCH1):c.5398G>A (p.Ala1800Thr) rs569203312 0.00002
NM_017617.5(NOTCH1):c.6229G>A (p.Ala2077Thr) rs759749364 0.00002
NM_017617.5(NOTCH1):c.6365C>T (p.Pro2122Leu) rs767587816 0.00002
NM_017617.5(NOTCH1):c.6749C>T (p.Ala2250Val) rs777809068 0.00002
NM_017617.5(NOTCH1):c.6814C>T (p.Arg2272Cys) rs752505638 0.00002
NM_017617.5(NOTCH1):c.6979C>T (p.Arg2327Trp) rs751007903 0.00002
NM_017617.5(NOTCH1):c.775G>A (p.Asp259Asn) rs763187824 0.00002
NM_017617.5(NOTCH1):c.823G>A (p.Gly275Ser) rs371333249 0.00002
NM_017617.5(NOTCH1):c.1007T>C (p.Ile336Thr) rs753734433 0.00001
NM_017617.5(NOTCH1):c.1096A>G (p.Thr366Ala) rs1554730065 0.00001
NM_017617.5(NOTCH1):c.1214C>T (p.Thr405Met) rs370746889 0.00001
NM_017617.5(NOTCH1):c.1220C>T (p.Pro407Leu) rs754529382 0.00001
NM_017617.5(NOTCH1):c.1256-5G>A rs773981257 0.00001
NM_017617.5(NOTCH1):c.1309G>A (p.Glu437Lys) rs1060502238 0.00001
NM_017617.5(NOTCH1):c.157G>A (p.Val53Met) rs757497167 0.00001
NM_017617.5(NOTCH1):c.1669+5G>A rs771590616 0.00001
NM_017617.5(NOTCH1):c.1750G>A (p.Val584Ile) rs763886355 0.00001
NM_017617.5(NOTCH1):c.1775G>A (p.Arg592His) rs544117297 0.00001
NM_017617.5(NOTCH1):c.1778C>T (p.Pro593Leu) rs886039014 0.00001
NM_017617.5(NOTCH1):c.1838G>A (p.Arg613His) rs369522885 0.00001
NM_017617.5(NOTCH1):c.1972A>G (p.Lys658Glu) rs1260932753 0.00001
NM_017617.5(NOTCH1):c.1987G>A (p.Glu663Lys) rs548000491 0.00001
NM_017617.5(NOTCH1):c.2038G>A (p.Asp680Asn) rs749761941 0.00001
NM_017617.5(NOTCH1):c.2074A>G (p.Thr692Ala) rs1385815860 0.00001
NM_017617.5(NOTCH1):c.2093A>G (p.Asn698Ser) rs1338004985 0.00001
NM_017617.5(NOTCH1):c.211G>A (p.Ala71Thr) rs753106233 0.00001
NM_017617.5(NOTCH1):c.2501C>T (p.Ala834Val) rs202144877 0.00001
NM_017617.5(NOTCH1):c.2510C>G (p.Pro837Arg) rs777663026 0.00001
NM_017617.5(NOTCH1):c.2564G>A (p.Cys855Tyr) rs759862433 0.00001
NM_017617.5(NOTCH1):c.2611A>G (p.Asn871Asp) rs200235006 0.00001
NM_017617.5(NOTCH1):c.2644G>A (p.Ala882Thr) rs767886377 0.00001
NM_017617.5(NOTCH1):c.2753A>G (p.Asn918Ser) rs367586502 0.00001
NM_017617.5(NOTCH1):c.2869G>A (p.Gly957Arg) rs773902766 0.00001
NM_017617.5(NOTCH1):c.2882C>T (p.Thr961Met) rs377343669 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.3095A>G (p.His1032Arg) rs1397562033 0.00001
NM_017617.5(NOTCH1):c.3100G>A (p.Gly1034Ser) rs981281975 0.00001
NM_017617.5(NOTCH1):c.3142C>T (p.Pro1048Ser) rs770521856 0.00001
NM_017617.5(NOTCH1):c.3160C>A (p.Pro1054Thr) rs1018501056 0.00001
NM_017617.5(NOTCH1):c.3214G>A (p.Gly1072Ser) rs780582836 0.00001
NM_017617.5(NOTCH1):c.3244C>T (p.Arg1082Cys) rs1386494518 0.00001
NM_017617.5(NOTCH1):c.3350A>G (p.Gln1117Arg) rs764816819 0.00001
NM_017617.5(NOTCH1):c.3404C>T (p.Ala1135Val) rs370300490 0.00001
NM_017617.5(NOTCH1):c.3496G>A (p.Gly1166Ser) rs754815022 0.00001
NM_017617.5(NOTCH1):c.3529G>A (p.Gly1177Arg) rs754086177 0.00001
NM_017617.5(NOTCH1):c.3569A>G (p.His1190Arg) rs775438678 0.00001
NM_017617.5(NOTCH1):c.3632G>A (p.Arg1211Gln) rs756362905 0.00001
NM_017617.5(NOTCH1):c.3685G>A (p.Val1229Ile) rs766198119 0.00001
NM_017617.5(NOTCH1):c.3694G>A (p.Val1232Met) rs750169914 0.00001
NM_017617.5(NOTCH1):c.3954T>A (p.Asn1318Lys) rs754634957 0.00001
NM_017617.5(NOTCH1):c.3991G>A (p.Gly1331Arg) rs769908800 0.00001
NM_017617.5(NOTCH1):c.4010C>G (p.Pro1337Arg) rs1043832212 0.00001
NM_017617.5(NOTCH1):c.4024G>A (p.Gly1342Ser) rs748933222 0.00001
NM_017617.5(NOTCH1):c.4237C>A (p.Arg1413Ser) rs1348438354 0.00001
NM_017617.5(NOTCH1):c.4309G>A (p.Gly1437Arg) rs780500109 0.00001
NM_017617.5(NOTCH1):c.4472C>T (p.Thr1491Met) rs369915496 0.00001
NM_017617.5(NOTCH1):c.452A>G (p.Asn151Ser) rs766362765 0.00001
NM_017617.5(NOTCH1):c.4568G>A (p.Arg1523His) rs367589813 0.00001
NM_017617.5(NOTCH1):c.4663G>A (p.Glu1555Lys) rs746342893 0.00001
NM_017617.5(NOTCH1):c.4742C>T (p.Pro1581Leu) rs746431035 0.00001
NM_017617.5(NOTCH1):c.4880G>A (p.Arg1627His) rs946083212 0.00001
NM_017617.5(NOTCH1):c.5092G>A (p.Asp1698Asn) rs1417478070 0.00001
NM_017617.5(NOTCH1):c.5234T>C (p.Val1745Ala) rs1843012616 0.00001
NM_017617.5(NOTCH1):c.5282G>A (p.Arg1761Gln) rs750318685 0.00001
NM_017617.5(NOTCH1):c.5452C>G (p.Leu1818Val) rs1064796983 0.00001
NM_017617.5(NOTCH1):c.5492T>C (p.Leu1831Pro) rs1085307869 0.00001
NM_017617.5(NOTCH1):c.5560C>T (p.Arg1854Cys) rs376689092 0.00001
NM_017617.5(NOTCH1):c.5572A>C (p.Met1858Leu) rs779337715 0.00001
NM_017617.5(NOTCH1):c.5629C>T (p.Arg1877Cys) rs1446708596 0.00001
NM_017617.5(NOTCH1):c.5690C>T (p.Thr1897Met) rs746237272 0.00001
NM_017617.5(NOTCH1):c.5734G>A (p.Asp1912Asn) rs375978224 0.00001
NM_017617.5(NOTCH1):c.581C>T (p.Thr194Ile) rs760005580 0.00001
NM_017617.5(NOTCH1):c.613G>A (p.Val205Ile) rs979299004 0.00001
NM_017617.5(NOTCH1):c.6223G>A (p.Glu2075Lys) rs549258808 0.00001
NM_017617.5(NOTCH1):c.6259C>T (p.Arg2087Trp) rs373806373 0.00001
NM_017617.5(NOTCH1):c.6260G>A (p.Arg2087Gln) rs768543030 0.00001
NM_017617.5(NOTCH1):c.632C>G (p.Thr211Ser) rs1401319182 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.6476G>A (p.Arg2159His) rs1060502233 0.00001
NM_017617.5(NOTCH1):c.649C>T (p.Arg217Trp) rs757003332 0.00001
NM_017617.5(NOTCH1):c.6503G>A (p.Cys2168Tyr) rs1055326153 0.00001
NM_017617.5(NOTCH1):c.6593C>T (p.Ser2198Leu) rs761562076 0.00001
NM_017617.5(NOTCH1):c.6637G>A (p.Val2213Met) rs376241938 0.00001
NM_017617.5(NOTCH1):c.6743A>C (p.Asn2248Thr) rs1554826464 0.00001
NM_017617.5(NOTCH1):c.674C>G (p.Ser225Trp) rs553542677 0.00001
NM_017617.5(NOTCH1):c.6781G>T (p.Gly2261Cys) rs768817065 0.00001
NM_017617.5(NOTCH1):c.68G>C (p.Arg23Pro) rs869025260 0.00001
NM_017617.5(NOTCH1):c.6949G>A (p.Gly2317Ser) rs747022065 0.00001
NM_017617.5(NOTCH1):c.7033G>A (p.Gly2345Ser) rs1325758824 0.00001
NM_017617.5(NOTCH1):c.7138G>A (p.Val2380Met) rs769693988 0.00001
NM_017617.5(NOTCH1):c.7150C>G (p.Gln2384Glu) rs375119074 0.00001
NM_017617.5(NOTCH1):c.7188C>G (p.Asn2396Lys) rs1842917968 0.00001
NM_017617.5(NOTCH1):c.7291C>T (p.Arg2431Trp) rs758410389 0.00001
NM_017617.5(NOTCH1):c.7430C>T (p.Thr2477Ile) rs1373474592 0.00001
NM_017617.5(NOTCH1):c.7545G>T (p.Glu2515Asp) rs1365732147 0.00001
NM_017617.5(NOTCH1):c.7568C>T (p.Ser2523Leu) rs1554826328 0.00001
NM_017617.5(NOTCH1):c.7631A>G (p.Gln2544Arg) rs764749582 0.00001
NM_017617.5(NOTCH1):c.79C>A (p.Pro27Thr) rs769784635 0.00001
NM_017617.5(NOTCH1):c.949G>A (p.Gly317Ser) rs749696049 0.00001
NM_017617.5(NOTCH1):c.1018G>A (p.Ala340Thr)
NM_017617.5(NOTCH1):c.1024G>A (p.Ala342Thr)
NM_017617.5(NOTCH1):c.1046C>T (p.Thr349Ile)
NM_017617.5(NOTCH1):c.1058G>A (p.Arg353His)
NM_017617.5(NOTCH1):c.1146C>A (p.Asn382Lys)
NM_017617.5(NOTCH1):c.1156A>G (p.Asn386Asp)
NM_017617.5(NOTCH1):c.1189A>G (p.Ile397Val)
NM_017617.5(NOTCH1):c.1196C>A (p.Thr399Asn)
NM_017617.5(NOTCH1):c.1325A>C (p.Gln442Pro)
NM_017617.5(NOTCH1):c.1363G>C (p.Glu455Gln) rs1554729950
NM_017617.5(NOTCH1):c.1379C>T (p.Pro460Leu)
NM_017617.5(NOTCH1):c.139G>C (p.Val47Leu)
NM_017617.5(NOTCH1):c.1430T>A (p.Ile477Asn) rs1843299891
NM_017617.5(NOTCH1):c.1489A>G (p.Ser497Gly)
NM_017617.5(NOTCH1):c.1533G>T (p.Glu511Asp)
NM_017617.5(NOTCH1):c.1549C>G (p.Pro517Ala)
NM_017617.5(NOTCH1):c.1553C>G (p.Thr518Arg)
NM_017617.5(NOTCH1):c.1591G>A (p.Glu531Lys)
NM_017617.5(NOTCH1):c.1625A>C (p.Lys542Thr)
NM_017617.5(NOTCH1):c.1640C>T (p.Pro547Leu)
NM_017617.5(NOTCH1):c.164C>G (p.Pro55Arg)
NM_017617.5(NOTCH1):c.1684C>T (p.His562Tyr)
NM_017617.5(NOTCH1):c.1701C>G (p.Ile567Met) rs773932034
NM_017617.5(NOTCH1):c.1711G>A (p.Asp571Asn) rs373125283
NM_017617.5(NOTCH1):c.1719C>A (p.Asp573Glu) rs1002136018
NM_017617.5(NOTCH1):c.1726C>T (p.His576Tyr)
NM_017617.5(NOTCH1):c.1753G>A (p.Ala585Thr) rs775217381
NM_017617.5(NOTCH1):c.1816G>A (p.Glu606Lys) rs1381792229
NM_017617.5(NOTCH1):c.1862G>T (p.Arg621Leu)
NM_017617.5(NOTCH1):c.1898C>T (p.Thr633Ile)
NM_017617.5(NOTCH1):c.1915G>A (p.Glu639Lys)
NM_017617.5(NOTCH1):c.1951G>T (p.Asp651Tyr)
NM_017617.5(NOTCH1):c.1982G>C (p.Gly661Ala)
NM_017617.5(NOTCH1):c.2092A>G (p.Asn698Asp)
NM_017617.5(NOTCH1):c.2150T>C (p.Val717Ala)
NM_017617.5(NOTCH1):c.2185G>T (p.Ala729Ser)
NM_017617.5(NOTCH1):c.2218G>T (p.Asp740Tyr)
NM_017617.5(NOTCH1):c.2243C>A (p.Thr748Asn) rs1284149123
NM_017617.5(NOTCH1):c.2252A>C (p.Asp751Ala) rs1843215798
NM_017617.5(NOTCH1):c.2280C>A (p.Asn760Lys)
NM_017617.5(NOTCH1):c.2291A>G (p.Asn764Ser) rs1454630791
NM_017617.5(NOTCH1):c.2315C>A (p.Thr772Asn)
NM_017617.5(NOTCH1):c.2338C>T (p.Arg780Trp) rs756642176
NM_017617.5(NOTCH1):c.2350A>G (p.Ser784Gly)
NM_017617.5(NOTCH1):c.2351G>C (p.Ser784Thr)
NM_017617.5(NOTCH1):c.2374A>C (p.Ile792Leu)
NM_017617.5(NOTCH1):c.2408A>G (p.Gln803Arg)
NM_017617.5(NOTCH1):c.2414C>A (p.Thr805Lys)
NM_017617.5(NOTCH1):c.2446A>G (p.Asn816Asp) rs1589064290
NM_017617.5(NOTCH1):c.2461T>C (p.Tyr821His)
NM_017617.5(NOTCH1):c.2481G>C (p.Glu827Asp)
NM_017617.5(NOTCH1):c.2494C>T (p.Pro832Ser)
NM_017617.5(NOTCH1):c.2498G>A (p.Cys833Tyr)
NM_017617.5(NOTCH1):c.2501C>G (p.Ala834Gly) rs202144877
NM_017617.5(NOTCH1):c.2507G>A (p.Ser836Asn)
NM_017617.5(NOTCH1):c.2518A>C (p.Asn840His)
NM_017617.5(NOTCH1):c.2524G>A (p.Gly842Arg)
NM_017617.5(NOTCH1):c.2527G>A (p.Glu843Lys) rs750170645
NM_017617.5(NOTCH1):c.2549A>G (p.Tyr850Cys)
NM_017617.5(NOTCH1):c.2558_2560del (p.Phe853del) rs779164170
NM_017617.5(NOTCH1):c.2566G>T (p.Val856Phe)
NM_017617.5(NOTCH1):c.2576C>G (p.Thr859Arg)
NM_017617.5(NOTCH1):c.2594C>T (p.Thr865Ile)
NM_017617.5(NOTCH1):c.2613C>G (p.Asn871Lys)
NM_017617.5(NOTCH1):c.2626A>G (p.Ser876Gly)
NM_017617.5(NOTCH1):c.2636G>T (p.Arg879Leu) rs368011392
NM_017617.5(NOTCH1):c.2658C>A (p.Asn886Lys)
NM_017617.5(NOTCH1):c.2659A>G (p.Thr887Ala)
NM_017617.5(NOTCH1):c.269_270delinsTG (p.Ala90Val) rs1554730737
NM_017617.5(NOTCH1):c.2705G>A (p.Arg902His) rs373075482
NM_017617.5(NOTCH1):c.2708A>C (p.Asn903Thr)
NM_017617.5(NOTCH1):c.2741-3C>G
NM_017617.5(NOTCH1):c.2743C>G (p.Pro915Ala) rs878855024
NM_017617.5(NOTCH1):c.2759G>C (p.Gly920Ala)
NM_017617.5(NOTCH1):c.2762C>T (p.Ser921Phe)
NM_017617.5(NOTCH1):c.2768C>T (p.Thr923Ile)
NM_017617.5(NOTCH1):c.2771A>C (p.Asp924Ala)
NM_017617.5(NOTCH1):c.2778C>G (p.Ile926Met)
NM_017617.5(NOTCH1):c.2864G>A (p.Arg955His) rs557049479
NM_017617.5(NOTCH1):c.2890G>A (p.Val964Met)
NM_017617.5(NOTCH1):c.2898_2899delinsGA (p.Ser966_Tyr967delinsArgAsn) rs1843149230
NM_017617.5(NOTCH1):c.2899T>A (p.Tyr967Asn)
NM_017617.5(NOTCH1):c.289C>T (p.Leu97Phe)
NM_017617.5(NOTCH1):c.2902A>G (p.Thr968Ala)
NM_017617.5(NOTCH1):c.2914C>T (p.Pro972Ser)
NM_017617.5(NOTCH1):c.2918C>T (p.Ala973Val)
NM_017617.5(NOTCH1):c.2928C>A (p.Ser976Arg)
NM_017617.5(NOTCH1):c.2954C>T (p.Pro985Leu)
NM_017617.5(NOTCH1):c.3010T>G (p.Ser1004Ala)
NM_017617.5(NOTCH1):c.3041C>T (p.Thr1014Met)
NM_017617.5(NOTCH1):c.3061G>C (p.Asp1021His)
NM_017617.5(NOTCH1):c.3080C>T (p.Ser1027Leu)
NM_017617.5(NOTCH1):c.3098G>A (p.Gly1033Asp)
NM_017617.5(NOTCH1):c.3104C>T (p.Thr1035Ile) rs886039138
NM_017617.5(NOTCH1):c.3109C>G (p.Gln1037Glu) rs878855025
NM_017617.5(NOTCH1):c.3114C>G (p.Asp1038Glu)
NM_017617.5(NOTCH1):c.3148G>A (p.Gly1050Ser)
NM_017617.5(NOTCH1):c.3160C>T (p.Pro1054Ser)
NM_017617.5(NOTCH1):c.3176T>C (p.Leu1059Pro)
NM_017617.5(NOTCH1):c.3181C>T (p.His1061Tyr) rs766126767
NM_017617.5(NOTCH1):c.3236C>T (p.Thr1079Ile)
NM_017617.5(NOTCH1):c.3238C>G (p.Gln1080Glu)
NM_017617.5(NOTCH1):c.3268A>G (p.Thr1090Ala)
NM_017617.5(NOTCH1):c.3283G>A (p.Asp1095Asn)
NM_017617.5(NOTCH1):c.3326-3C>T
NM_017617.5(NOTCH1):c.335G>A (p.Arg112His) rs768625801
NM_017617.5(NOTCH1):c.3383C>T (p.Thr1128Met)
NM_017617.5(NOTCH1):c.338A>G (p.Asn113Ser)
NM_017617.5(NOTCH1):c.3456C>G (p.Ser1152Arg)
NM_017617.5(NOTCH1):c.3465G>C (p.Gln1155His)
NM_017617.5(NOTCH1):c.3511-3C>T
NM_017617.5(NOTCH1):c.3527A>G (p.His1176Arg)
NM_017617.5(NOTCH1):c.352G>A (p.Asp118Asn) rs745590123
NM_017617.5(NOTCH1):c.3536A>T (p.Asn1179Ile)
NM_017617.5(NOTCH1):c.3549G>T (p.Glu1183Asp)
NM_017617.5(NOTCH1):c.3556G>A (p.Glu1186Lys)
NM_017617.5(NOTCH1):c.3579G>T (p.Gln1193His) rs61751544
NM_017617.5(NOTCH1):c.3600C>G (p.Asp1200Glu)
NM_017617.5(NOTCH1):c.3604C>T (p.Pro1202Ser) rs1554728268
NM_017617.5(NOTCH1):c.3609C>A (p.Asn1203Lys) rs1843104558
NM_017617.5(NOTCH1):c.3635G>T (p.Gly1212Val)
NM_017617.5(NOTCH1):c.3638C>G (p.Thr1213Ser) rs750536437
NM_017617.5(NOTCH1):c.3667G>A (p.Asp1223Asn)
NM_017617.5(NOTCH1):c.3694G>T (p.Val1232Leu)
NM_017617.5(NOTCH1):c.3732C>G (p.Cys1244Trp)
NM_017617.5(NOTCH1):c.376A>G (p.Lys126Glu) rs1589072528
NM_017617.5(NOTCH1):c.3770C>G (p.Pro1257Arg)
NM_017617.5(NOTCH1):c.3853G>T (p.Val1285Leu) rs756972680
NM_017617.5(NOTCH1):c.3870C>G (p.Asp1290Glu)
NM_017617.5(NOTCH1):c.3899C>T (p.Thr1300Ile)
NM_017617.5(NOTCH1):c.3970G>T (p.Val1324Leu) rs149057410
NM_017617.5(NOTCH1):c.4014+3A>G
NM_017617.5(NOTCH1):c.4031C>G (p.Thr1344Arg) rs201215245
NM_017617.5(NOTCH1):c.4031C>T (p.Thr1344Met) rs201215245
NM_017617.5(NOTCH1):c.4049G>A (p.Arg1350His) rs150343794
NM_017617.5(NOTCH1):c.404G>C (p.Gly135Ala)
NM_017617.5(NOTCH1):c.4099C>A (p.Pro1367Thr)
NM_017617.5(NOTCH1):c.4105A>G (p.Ser1369Gly)
NM_017617.5(NOTCH1):c.4166G>T (p.Ser1389Ile)
NM_017617.5(NOTCH1):c.4184A>T (p.Asn1395Ile)
NM_017617.5(NOTCH1):c.4200G>C (p.Gln1400His)
NM_017617.5(NOTCH1):c.4210G>A (p.Glu1404Lys)
NM_017617.5(NOTCH1):c.4325C>G (p.Pro1442Arg)
NM_017617.5(NOTCH1):c.4335C>G (p.Ile1445Met) rs373960609
NM_017617.5(NOTCH1):c.433G>A (p.Ala145Thr) rs1388726872
NM_017617.5(NOTCH1):c.433G>T (p.Ala145Ser)
NM_017617.5(NOTCH1):c.4343C>T (p.Ala1448Val)
NM_017617.5(NOTCH1):c.4546T>C (p.Phe1516Leu)
NM_017617.5(NOTCH1):c.4548C>G (p.Phe1516Leu)
NM_017617.5(NOTCH1):c.4568G>T (p.Arg1523Leu)
NM_017617.5(NOTCH1):c.4587-5C>T
NM_017617.5(NOTCH1):c.4589C>T (p.Pro1530Leu)
NM_017617.5(NOTCH1):c.461A>G (p.Gln154Arg)
NM_017617.5(NOTCH1):c.4624G>A (p.Asp1542Asn) rs1339004050
NM_017617.5(NOTCH1):c.4636G>A (p.Asp1546Asn)
NM_017617.5(NOTCH1):c.4640A>G (p.Gln1547Arg) rs1055806143
NM_017617.5(NOTCH1):c.4685C>T (p.Ala1562Val)
NM_017617.5(NOTCH1):c.4696C>T (p.Pro1566Ser)
NM_017617.5(NOTCH1):c.4792C>T (p.Arg1598Cys)
NM_017617.5(NOTCH1):c.4801C>A (p.His1601Asn)
NM_017617.5(NOTCH1):c.4814T>C (p.Val1605Ala)
NM_017617.5(NOTCH1):c.4820A>G (p.Lys1607Arg)
NM_017617.5(NOTCH1):c.4822C>T (p.Arg1608Cys)
NM_017617.5(NOTCH1):c.4841A>T (p.Gln1614Leu)
NM_017617.5(NOTCH1):c.4852C>T (p.Pro1618Ser)
NM_017617.5(NOTCH1):c.4867G>C (p.Glu1623Gln)
NM_017617.5(NOTCH1):c.4870G>C (p.Glu1624Gln) rs1843052920
NM_017617.5(NOTCH1):c.4891A>G (p.Ile1631Val)
NM_017617.5(NOTCH1):c.4913G>T (p.Trp1638Leu)
NM_017617.5(NOTCH1):c.4949C>A (p.Ala1650Asp)
NM_017617.5(NOTCH1):c.4951T>G (p.Ser1651Ala)
NM_017617.5(NOTCH1):c.4963G>C (p.Gly1655Arg)
NM_017617.5(NOTCH1):c.4964G>A (p.Gly1655Asp)
NM_017617.5(NOTCH1):c.4966G>A (p.Gly1656Ser)
NM_017617.5(NOTCH1):c.4974G>C (p.Glu1658Asp)
NM_017617.5(NOTCH1):c.4987C>T (p.Arg1663Trp)
NM_017617.5(NOTCH1):c.499C>G (p.Pro167Ala)
NM_017617.5(NOTCH1):c.5008G>T (p.Asp1670Tyr)
NM_017617.5(NOTCH1):c.5092G>T (p.Asp1698Tyr)
NM_017617.5(NOTCH1):c.5132G>A (p.Ser1711Asn)
NM_017617.5(NOTCH1):c.5166G>C (p.Gln1722His)
NM_017617.5(NOTCH1):c.5167+3A>G rs1025172473
NM_017617.5(NOTCH1):c.5168G>C (p.Ser1723Thr)
NM_017617.5(NOTCH1):c.5180A>G (p.Glu1727Gly)
NM_017617.5(NOTCH1):c.5210T>C (p.Met1737Thr)
NM_017617.5(NOTCH1):c.5215G>A (p.Val1739Met) rs377294245
NM_017617.5(NOTCH1):c.5236C>T (p.Leu1746Phe)
NM_017617.5(NOTCH1):c.5266C>G (p.Leu1756Val)
NM_017617.5(NOTCH1):c.5319C>G (p.Phe1773Leu)
NM_017617.5(NOTCH1):c.5321A>G (p.Lys1774Arg)
NM_017617.5(NOTCH1):c.5340G>C (p.Lys1780Asn)
NM_017617.5(NOTCH1):c.536T>A (p.Val179Asp)
NM_017617.5(NOTCH1):c.5394G>T (p.Lys1798Asn)
NM_017617.5(NOTCH1):c.5395A>C (p.Asn1799His)
NM_017617.5(NOTCH1):c.5434G>A (p.Glu1812Lys) rs1843005451
NM_017617.5(NOTCH1):c.5438G>T (p.Trp1813Leu) rs755659037
NM_017617.5(NOTCH1):c.5441G>C (p.Gly1814Ala)
NM_017617.5(NOTCH1):c.5455G>C (p.Glu1819Gln) rs2133329789
NM_017617.5(NOTCH1):c.5474T>C (p.Phe1825Ser)
NM_017617.5(NOTCH1):c.5476G>A (p.Glu1826Lys) rs374103443
NM_017617.5(NOTCH1):c.551A>G (p.Gln184Arg)
NM_017617.5(NOTCH1):c.5536C>A (p.Gln1846Lys)
NM_017617.5(NOTCH1):c.5561G>A (p.Arg1854His) rs878855028
NM_017617.5(NOTCH1):c.5594G>A (p.Gly1865Asp) rs2133328665
NM_017617.5(NOTCH1):c.5603A>T (p.Asp1868Val)
NM_017617.5(NOTCH1):c.5612G>A (p.Cys1871Tyr)
NM_017617.5(NOTCH1):c.5630G>A (p.Arg1877His)
NM_017617.5(NOTCH1):c.569G>T (p.Arg190Leu)
NM_017617.5(NOTCH1):c.5723C>T (p.Ala1908Val) rs886039188
NM_017617.5(NOTCH1):c.5732C>G (p.Ser1911Cys)
NM_017617.5(NOTCH1):c.5756G>A (p.Ser1919Asn)
NM_017617.5(NOTCH1):c.5903C>T (p.Ala1968Val)
NM_017617.5(NOTCH1):c.5914G>A (p.Asp1972Asn) rs1414380652
NM_017617.5(NOTCH1):c.592G>A (p.Glu198Lys)
NM_017617.5(NOTCH1):c.602C>T (p.Ser201Phe)
NM_017617.5(NOTCH1):c.62-4C>T
NM_017617.5(NOTCH1):c.6284G>T (p.Arg2095Leu) rs756874994
NM_017617.5(NOTCH1):c.6290C>T (p.Pro2097Leu)
NM_017617.5(NOTCH1):c.629A>G (p.His210Arg)
NM_017617.5(NOTCH1):c.6301G>A (p.Ala2101Thr)
NM_017617.5(NOTCH1):c.6314T>C (p.Met2105Thr)
NM_017617.5(NOTCH1):c.6343G>C (p.Glu2115Gln)
NM_017617.5(NOTCH1):c.6375C>G (p.His2125Gln) rs369009290
NM_017617.5(NOTCH1):c.6388G>C (p.Gly2130Arg)
NM_017617.5(NOTCH1):c.6428A>G (p.Asn2143Ser) rs1085307778
NM_017617.5(NOTCH1):c.6433T>C (p.Tyr2145His)
NM_017617.5(NOTCH1):c.6454G>A (p.Gly2152Ser) rs116317506
NM_017617.5(NOTCH1):c.6487A>C (p.Ser2163Arg)
NM_017617.5(NOTCH1):c.6533C>T (p.Ala2178Val)
NM_017617.5(NOTCH1):c.6578G>A (p.Ser2193Asn)
NM_017617.5(NOTCH1):c.6583G>C (p.Gly2195Arg)
NM_017617.5(NOTCH1):c.6691C>G (p.Leu2231Val)
NM_017617.5(NOTCH1):c.6715G>A (p.Asp2239Asn)
NM_017617.5(NOTCH1):c.6724C>G (p.Leu2242Val)
NM_017617.5(NOTCH1):c.6744C>G (p.Asn2248Lys) rs372771288
NM_017617.5(NOTCH1):c.6769G>T (p.Ala2257Ser)
NM_017617.5(NOTCH1):c.6799G>C (p.Glu2267Gln)
NM_017617.5(NOTCH1):c.6851C>T (p.Thr2284Ile) rs1341934554
NM_017617.5(NOTCH1):c.6857T>A (p.Leu2286Gln)
NM_017617.5(NOTCH1):c.6860G>A (p.Gly2287Asp)
NM_017617.5(NOTCH1):c.6881T>C (p.Leu2294Pro)
NM_017617.5(NOTCH1):c.6905C>T (p.Thr2302Ile)
NM_017617.5(NOTCH1):c.691G>A (p.Gly231Ser) rs1247729687
NM_017617.5(NOTCH1):c.6927G>C (p.Glu2309Asp)
NM_017617.5(NOTCH1):c.6946A>G (p.Ser2316Gly)
NM_017617.5(NOTCH1):c.6983G>A (p.Gly2328Glu) rs1451926227
NM_017617.5(NOTCH1):c.7000C>T (p.Pro2334Ser)
NM_017617.5(NOTCH1):c.7001C>A (p.Pro2334His)
NM_017617.5(NOTCH1):c.700C>T (p.Arg234Cys) rs567890045
NM_017617.5(NOTCH1):c.7019C>T (p.Pro2340Leu)
NM_017617.5(NOTCH1):c.7030C>T (p.His2344Tyr)
NM_017617.5(NOTCH1):c.7039G>C (p.Val2347Leu)
NM_017617.5(NOTCH1):c.7040T>C (p.Val2347Ala)
NM_017617.5(NOTCH1):c.7042G>A (p.Gly2348Ser)
NM_017617.5(NOTCH1):c.7118T>C (p.Leu2373Pro)
NM_017617.5(NOTCH1):c.7124C>T (p.Thr2375Ile)
NM_017617.5(NOTCH1):c.7126C>A (p.Gln2376Lys) rs767497870
NM_017617.5(NOTCH1):c.715G>A (p.Val239Ile)
NM_017617.5(NOTCH1):c.7227GCC[3] (p.Pro2415_Gln2416insPro)
NM_017617.5(NOTCH1):c.7231C>T (p.Pro2411Ser)
NM_017617.5(NOTCH1):c.7271C>T (p.Ala2424Val)
NM_017617.5(NOTCH1):c.7311G>T (p.Glu2437Asp) rs886039031
NM_017617.5(NOTCH1):c.7324G>C (p.Asp2442His) rs2133315459
NM_017617.5(NOTCH1):c.7355C>T (p.Ala2452Val)
NM_017617.5(NOTCH1):c.7382G>A (p.Ser2461Asn)
NM_017617.5(NOTCH1):c.7423C>T (p.Pro2475Ser)
NM_017617.5(NOTCH1):c.7433C>G (p.Ala2478Gly)
NM_017617.5(NOTCH1):c.7438C>T (p.Gln2480Ter) rs1554826355
NM_017617.5(NOTCH1):c.7475C>T (p.Ser2492Leu)
NM_017617.5(NOTCH1):c.7627A>G (p.Met2543Val)
NM_017617.5(NOTCH1):c.805G>A (p.Gly269Arg)
NM_017617.5(NOTCH1):c.865+2C>T rs1164392989
NM_017617.5(NOTCH1):c.87G>T (p.Glu29Asp)
NM_017617.5(NOTCH1):c.901C>G (p.Leu301Val)
NM_017617.5(NOTCH1):c.908C>T (p.Pro303Leu)
NM_017617.5(NOTCH1):c.922A>C (p.Asn308His)
NM_017617.5(NOTCH1):c.946C>T (p.His316Tyr)
NM_017617.5(NOTCH1):c.956A>G (p.Tyr319Cys) rs1554730095
NM_017617.5(NOTCH1):c.985G>A (p.Gly329Ser)

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