ClinVar Miner

List of variants studied for Adams-Oliver syndrome

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 815
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HGVS dbSNP
DOCK6, 1-BP DUP, 1245T
NC_000009.11:g.(?_138683633)_(139440248_?)del
NC_000009.11:g.(?_138683633)_(139440248_?)dup
NC_000009.11:g.(?_139390503)_(139438574_?)dup
NM_001278689.2(EOGT):c.1074del (p.Gly359fs) rs587776994
NM_001278689.2(EOGT):c.1130G>A (p.Arg377Gln) rs587776995
NM_001278689.2(EOGT):c.1213A>G (p.Arg405Gly) rs35545453
NM_001278689.2(EOGT):c.1335-1G>A rs185181819
NM_001278689.2(EOGT):c.176C>G (p.Thr59Ser)
NM_001278689.2(EOGT):c.311+1G>T rs369583084
NM_001278689.2(EOGT):c.404G>A (p.Cys135Tyr) rs1247059195
NM_001278689.2(EOGT):c.620G>C (p.Trp207Ser) rs587776993
NM_001278689.2(EOGT):c.78_81del (p.His27fs) rs771160630
NM_001278689.2(EOGT):c.831+2T>C rs1559604548
NM_005349.3(RBPJ):c.188A>G (p.Glu63Gly) rs387907270
NM_005349.3(RBPJ):c.193A>G (p.Arg65Gly) rs1553878211
NM_005349.3(RBPJ):c.196T>G (p.Phe66Val) rs1553880029
NM_005349.3(RBPJ):c.505A>G (p.Lys169Glu) rs387907271
NM_005349.3(RBPJ):c.996C>A (p.Ser332Arg) rs1553882550
NM_017617.3(NOTCH1):c.5019-13_5019-10delATTG rs374419074
NM_017617.5(NOTCH1):c.102C>T (p.Gly34=)
NM_017617.5(NOTCH1):c.1038C>T (p.His346=) rs376951155
NM_017617.5(NOTCH1):c.1077C>T (p.Cys359=) rs202235419
NM_017617.5(NOTCH1):c.1094G>A (p.Arg365His) rs775991013
NM_017617.5(NOTCH1):c.1100-7T>C rs376603720
NM_017617.5(NOTCH1):c.1100-8C>T rs545088400
NM_017617.5(NOTCH1):c.1109G>A (p.Cys370Tyr) rs1564199987
NM_017617.5(NOTCH1):c.1122C>T (p.Asp374=) rs192683347
NM_017617.5(NOTCH1):c.1125A>G (p.Ala375=) rs371954544
NM_017617.5(NOTCH1):c.1146C>T (p.Asn382=) rs368665838
NM_017617.5(NOTCH1):c.1185G>A (p.Lys395=) rs774399901
NM_017617.5(NOTCH1):c.1205C>T (p.Ser402Leu) rs1037236860
NM_017617.5(NOTCH1):c.1220C>G (p.Pro407Arg) rs754529382
NM_017617.5(NOTCH1):c.1237G>A (p.Val413Met)
NM_017617.5(NOTCH1):c.1250C>T (p.Ser417Leu) rs757631575
NM_017617.5(NOTCH1):c.1255+9C>T rs775401272
NM_017617.5(NOTCH1):c.1256-8C>G rs1052776009
NM_017617.5(NOTCH1):c.1269C>T (p.Cys423=)
NM_017617.5(NOTCH1):c.1277C>G (p.Ala426Gly) rs528033027
NM_017617.5(NOTCH1):c.1285T>C (p.Cys429Arg) rs587777736
NM_017617.5(NOTCH1):c.1293C>T (p.Asn431=) rs372751855
NM_017617.5(NOTCH1):c.1295C>T (p.Thr432Met) rs200562991
NM_017617.5(NOTCH1):c.1309G>A (p.Glu437Lys) rs1060502238
NM_017617.5(NOTCH1):c.1343G>A (p.Arg448Gln) rs864622056
NM_017617.5(NOTCH1):c.1345T>C (p.Cys449Arg) rs864622057
NM_017617.5(NOTCH1):c.1367G>A (p.Cys456Tyr) rs864622058
NM_017617.5(NOTCH1):c.1369G>A (p.Val457Ile)
NM_017617.5(NOTCH1):c.1389C>T (p.Asn463=) rs61733293
NM_017617.5(NOTCH1):c.1393G>A (p.Ala465Thr) rs1057523819
NM_017617.5(NOTCH1):c.1396del (p.Thr466fs) rs1564199476
NM_017617.5(NOTCH1):c.1440C>T (p.Pro480=) rs61751555
NM_017617.5(NOTCH1):c.1441+4C>T rs764082065
NM_017617.5(NOTCH1):c.1441+8G>A rs765031085
NM_017617.5(NOTCH1):c.1441G>C (p.Gly481Arg) rs1448146225
NM_017617.5(NOTCH1):c.1442-3C>T
NM_017617.5(NOTCH1):c.1477G>A (p.Glu493Lys) rs1554729862
NM_017617.5(NOTCH1):c.147C>T (p.Gly49=) rs746002433
NM_017617.5(NOTCH1):c.1510C>T (p.Arg504Cys) rs752071569
NM_017617.5(NOTCH1):c.1511G>A (p.Arg504His) rs201768800
NM_017617.5(NOTCH1):c.1514G>A (p.Cys505Tyr) rs1060502240
NM_017617.5(NOTCH1):c.152C>A (p.Ala51Asp)
NM_017617.5(NOTCH1):c.1539G>C (p.Gln513His)
NM_017617.5(NOTCH1):c.153C>T (p.Ala51=) rs748048002
NM_017617.5(NOTCH1):c.1553C>T (p.Thr518Met) rs377535397
NM_017617.5(NOTCH1):c.1556-9C>T rs150834418
NM_017617.5(NOTCH1):c.1567C>T (p.His523Tyr) rs572103199
NM_017617.5(NOTCH1):c.156C>T (p.Phe52=) rs536299678
NM_017617.5(NOTCH1):c.157G>A (p.Val53Met) rs757497167
NM_017617.5(NOTCH1):c.1582G>A (p.Asp528Asn) rs757988142
NM_017617.5(NOTCH1):c.1590C>T (p.Asp530=) rs562807473
NM_017617.5(NOTCH1):c.1635C>T (p.Asp545=) rs11574889
NM_017617.5(NOTCH1):c.1649dup (p.Tyr550Ter) rs864622059
NM_017617.5(NOTCH1):c.1650C>T (p.Tyr550=) rs371634784
NM_017617.5(NOTCH1):c.165G>A (p.Pro55=) rs373793124
NM_017617.5(NOTCH1):c.1664C>T (p.Thr555Met) rs746796894
NM_017617.5(NOTCH1):c.1665G>A (p.Thr555=) rs148331061
NM_017617.5(NOTCH1):c.1669+5G>A rs771590616
NM_017617.5(NOTCH1):c.1670-10_1670-9inv rs1060502241
NM_017617.5(NOTCH1):c.1682C>T (p.Thr561Met)
NM_017617.5(NOTCH1):c.1693G>A (p.Val565Met)
NM_017617.5(NOTCH1):c.1699A>G (p.Ile567Val) rs369067940
NM_017617.5(NOTCH1):c.16G>A (p.Ala6Thr) rs1564217184
NM_017617.5(NOTCH1):c.1711G>A (p.Asp571Asn) rs373125283
NM_017617.5(NOTCH1):c.1747G>A (p.Gly583Ser) rs757066417
NM_017617.5(NOTCH1):c.1749C>T (p.Gly583=) rs751367001
NM_017617.5(NOTCH1):c.1752C>T (p.Val584=) rs902251832
NM_017617.5(NOTCH1):c.1753G>A (p.Ala585Thr) rs775217381
NM_017617.5(NOTCH1):c.1792C>T (p.His598Tyr)
NM_017617.5(NOTCH1):c.17_18delinsTT (p.Ala6Val) rs878855023
NM_017617.5(NOTCH1):c.1800C>T (p.Cys600=)
NM_017617.5(NOTCH1):c.1801G>A (p.Glu601Lys)
NM_017617.5(NOTCH1):c.1815C>G (p.Asn605Lys)
NM_017617.5(NOTCH1):c.1837C>T (p.Arg613Cys) rs763988265
NM_017617.5(NOTCH1):c.1843G>A (p.Gly615Arg)
NM_017617.5(NOTCH1):c.1862G>A (p.Arg621His) rs138504021
NM_017617.5(NOTCH1):c.1863C>T (p.Arg621=) rs749374016
NM_017617.5(NOTCH1):c.1864G>A (p.Asp622Asn)
NM_017617.5(NOTCH1):c.186G>C (p.Pro62=) rs374320445
NM_017617.5(NOTCH1):c.1903+10C>G rs375704312
NM_017617.5(NOTCH1):c.1903+6C>T rs753388966
NM_017617.5(NOTCH1):c.1904-3C>A rs748118679
NM_017617.5(NOTCH1):c.1914C>T (p.Cys638=) rs373068883
NM_017617.5(NOTCH1):c.1918A>G (p.Ile640Val) rs1307313338
NM_017617.5(NOTCH1):c.1933_1934TG[1] (p.Ala646fs) rs1554729443
NM_017617.5(NOTCH1):c.1950C>T (p.Cys650=) rs147086700
NM_017617.5(NOTCH1):c.1956G>A (p.Ser652=) rs376101458
NM_017617.5(NOTCH1):c.1962C>T (p.Thr654=) rs61751554
NM_017617.5(NOTCH1):c.1972A>G (p.Lys658Glu) rs1260932753
NM_017617.5(NOTCH1):c.1981G>A (p.Gly661Ser) rs201077220
NM_017617.5(NOTCH1):c.19C>T (p.Pro7Ser) rs1397523469
NM_017617.5(NOTCH1):c.2014+6C>T rs529806324
NM_017617.5(NOTCH1):c.2014+7G>A rs562353347
NM_017617.5(NOTCH1):c.2037C>T (p.Ile679=) rs367591933
NM_017617.5(NOTCH1):c.2049G>A (p.Ala683=) rs61751553
NM_017617.5(NOTCH1):c.2080G>A (p.Glu694Lys) rs79782048
NM_017617.5(NOTCH1):c.2085C>T (p.Asp695=) rs200573958
NM_017617.5(NOTCH1):c.20C>T (p.Pro7Leu) rs1554733804
NM_017617.5(NOTCH1):c.2108G>A (p.Arg703His) rs561126575
NM_017617.5(NOTCH1):c.2112C>T (p.Cys704=) rs757495549
NM_017617.5(NOTCH1):c.2124C>T (p.Tyr708=) rs376744729
NM_017617.5(NOTCH1):c.2126A>G (p.His709Arg) rs373233257
NM_017617.5(NOTCH1):c.2127C>T (p.His709=) rs755898711
NM_017617.5(NOTCH1):c.2134A>G (p.Thr712Ala)
NM_017617.5(NOTCH1):c.2136C>A (p.Thr712=) rs369346436
NM_017617.5(NOTCH1):c.2191C>T (p.Arg731Trp) rs199666126
NM_017617.5(NOTCH1):c.2205C>T (p.Asn735=) rs2229970
NM_017617.5(NOTCH1):c.2207+10G>A rs191892426
NM_017617.5(NOTCH1):c.2207+5G>A rs1214619547
NM_017617.5(NOTCH1):c.2207+7G>A rs138935812
NM_017617.5(NOTCH1):c.2207+9C>T rs751315476
NM_017617.5(NOTCH1):c.2218G>A (p.Asp740Asn) rs200816814
NM_017617.5(NOTCH1):c.2263_2265del (p.Asn755del) rs587778559
NM_017617.5(NOTCH1):c.2291A>G (p.Asn764Ser) rs1454630791
NM_017617.5(NOTCH1):c.2292C>T (p.Asn764=) rs775201110
NM_017617.5(NOTCH1):c.2318G>C (p.Ser773Thr) rs758073507
NM_017617.5(NOTCH1):c.2326G>A (p.Val776Met) rs377286829
NM_017617.5(NOTCH1):c.2326G>T (p.Val776Leu)
NM_017617.5(NOTCH1):c.2340G>A (p.Arg780=) rs767935604
NM_017617.5(NOTCH1):c.2352C>T (p.Ser784=) rs774701000
NM_017617.5(NOTCH1):c.2354-5T>C rs371944522
NM_017617.5(NOTCH1):c.2355T>C (p.Gly785=) rs199719103
NM_017617.5(NOTCH1):c.2359A>G (p.Asn787Asp) rs199672693
NM_017617.5(NOTCH1):c.2365C>T (p.Gln789Ter) rs1554729118
NM_017617.5(NOTCH1):c.236G>A (p.Arg79His) rs768517628
NM_017617.5(NOTCH1):c.2380G>T (p.Glu794Ter) rs1554729113
NM_017617.5(NOTCH1):c.2388G>A (p.Ala796=) rs561956078
NM_017617.5(NOTCH1):c.2425G>A (p.Asp809Asn) rs762729988
NM_017617.5(NOTCH1):c.2434G>A (p.Gly812Arg) rs201620755
NM_017617.5(NOTCH1):c.244G>A (p.Val82Met) rs571831870
NM_017617.5(NOTCH1):c.244G>T (p.Val82Leu)
NM_017617.5(NOTCH1):c.2458C>T (p.Pro820Ser) rs1379596542
NM_017617.5(NOTCH1):c.246G>C (p.Val82=) rs1055942607
NM_017617.5(NOTCH1):c.2495C>T (p.Pro832Leu) rs559917218
NM_017617.5(NOTCH1):c.2496G>T (p.Pro832=) rs61751551
NM_017617.5(NOTCH1):c.2501C>G (p.Ala834Gly) rs202144877
NM_017617.5(NOTCH1):c.2501C>T (p.Ala834Val) rs202144877
NM_017617.5(NOTCH1):c.2503C>T (p.Pro835Ser) rs377353441
NM_017617.5(NOTCH1):c.2505C>A (p.Pro835=) rs111756273
NM_017617.5(NOTCH1):c.2511C>T (p.Pro837=) rs201521828
NM_017617.5(NOTCH1):c.2542G>A (p.Glu848Lys) rs35136134
NM_017617.5(NOTCH1):c.2558_2560del (p.Phe853del) rs779164170
NM_017617.5(NOTCH1):c.256G>T (p.Ala86Ser) rs373941045
NM_017617.5(NOTCH1):c.2576C>T (p.Thr859Met) rs199505287
NM_017617.5(NOTCH1):c.2588-9G>T rs757973986
NM_017617.5(NOTCH1):c.2604C>T (p.Val868=) rs115235667
NM_017617.5(NOTCH1):c.2611A>G (p.Asn871Asp)
NM_017617.5(NOTCH1):c.2635C>T (p.Arg879Trp) rs587778563
NM_017617.5(NOTCH1):c.2636G>A (p.Arg879Gln) rs368011392
NM_017617.5(NOTCH1):c.2636G>T (p.Arg879Leu) rs368011392
NM_017617.5(NOTCH1):c.263G>A (p.Ser88Asn) rs191357265
NM_017617.5(NOTCH1):c.2640C>T (p.His880=) rs374946182
NM_017617.5(NOTCH1):c.2646A>T (p.Ala882=) rs61751550
NM_017617.5(NOTCH1):c.2664C>T (p.His888=) rs61751548
NM_017617.5(NOTCH1):c.2665G>A (p.Gly889Ser) rs557590721
NM_017617.5(NOTCH1):c.2666G>T (p.Gly889Val) rs1554728783
NM_017617.5(NOTCH1):c.2674C>T (p.Arg892Cys) rs578228721
NM_017617.5(NOTCH1):c.2691C>T (p.Ala897=) rs11574895
NM_017617.5(NOTCH1):c.2699G>A (p.Ser900Asn)
NM_017617.5(NOTCH1):c.269_270delinsTG (p.Ala90Val) rs1554730737
NM_017617.5(NOTCH1):c.2704C>T (p.Arg902Cys) rs1448345366
NM_017617.5(NOTCH1):c.2712C>T (p.Cys904=) rs369645726
NM_017617.5(NOTCH1):c.2724C>T (p.Ile908=) rs61751547
NM_017617.5(NOTCH1):c.2725G>A (p.Asp909Asn)
NM_017617.5(NOTCH1):c.2727C>T (p.Asp909=) rs752854629
NM_017617.5(NOTCH1):c.2728G>A (p.Asp910Asn)
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp) rs201620358
NM_017617.5(NOTCH1):c.2743C>G (p.Pro915Ala) rs878855024
NM_017617.5(NOTCH1):c.2744C>T (p.Pro915Leu)
NM_017617.5(NOTCH1):c.2745G>A (p.Pro915=) rs766331471
NM_017617.5(NOTCH1):c.274G>C (p.Gly92Arg) rs1397413424
NM_017617.5(NOTCH1):c.2753A>G (p.Asn918Ser) rs367586502
NM_017617.5(NOTCH1):c.2769A>G (p.Thr923=) rs201985795
NM_017617.5(NOTCH1):c.2784G>A (p.Thr928=) rs200082362
NM_017617.5(NOTCH1):c.2805C>T (p.Pro935=) rs200332386
NM_017617.5(NOTCH1):c.2806G>A (p.Gly936Ser) rs773847667
NM_017617.5(NOTCH1):c.2813G>A (p.Arg938Gln) rs35962301
NM_017617.5(NOTCH1):c.2863C>T (p.Arg955Cys) rs370797169
NM_017617.5(NOTCH1):c.2864G>A (p.Arg955His) rs557049479
NM_017617.5(NOTCH1):c.2868C>A (p.Asn956Lys)
NM_017617.5(NOTCH1):c.2868C>T (p.Asn956=) rs760227470
NM_017617.5(NOTCH1):c.2882C>T (p.Thr961Met) rs377343669
NM_017617.5(NOTCH1):c.2908A>G (p.Thr970Ala)
NM_017617.5(NOTCH1):c.2917G>A (p.Ala973Thr) rs200699541
NM_017617.5(NOTCH1):c.2951C>T (p.Thr984Met) rs769132985
NM_017617.5(NOTCH1):c.2970-9C>T rs568052902
NM_017617.5(NOTCH1):c.2983G>A (p.Gly995Ser)
NM_017617.5(NOTCH1):c.3001G>A (p.Gly1001Ser) rs763621169
NM_017617.5(NOTCH1):c.301C>A (p.Pro101Thr)
NM_017617.5(NOTCH1):c.3034G>A (p.Gly1012Ser) rs776957107
NM_017617.5(NOTCH1):c.3042G>A (p.Thr1014=) rs371532644
NM_017617.5(NOTCH1):c.3100G>A (p.Gly1034Ser) rs981281975
NM_017617.5(NOTCH1):c.3104C>T (p.Thr1035Ile) rs886039138
NM_017617.5(NOTCH1):c.3109C>G (p.Gln1037Glu) rs878855025
NM_017617.5(NOTCH1):c.3114C>T (p.Asp1038=) rs769755236
NM_017617.5(NOTCH1):c.3115G>A (p.Gly1039Ser) rs200207651
NM_017617.5(NOTCH1):c.3118T>C (p.Cys1040Arg) rs1060502235
NM_017617.5(NOTCH1):c.311A>G (p.Asn104Ser) rs199654211
NM_017617.5(NOTCH1):c.3150C>A (p.Gly1050=) rs1060504523
NM_017617.5(NOTCH1):c.3171+9G>A rs377541723
NM_017617.5(NOTCH1):c.3190G>A (p.Asp1064Asn) rs375931404
NM_017617.5(NOTCH1):c.3198G>A (p.Ser1066=) rs199892488
NM_017617.5(NOTCH1):c.3213C>T (p.Gly1071=) rs528993886
NM_017617.5(NOTCH1):c.3245G>A (p.Arg1082His)
NM_017617.5(NOTCH1):c.3245G>T (p.Arg1082Leu) rs758471372
NM_017617.5(NOTCH1):c.3249C>T (p.Cys1083=) rs139994842
NM_017617.5(NOTCH1):c.3250G>C (p.Glu1084Gln)
NM_017617.5(NOTCH1):c.3266G>A (p.Trp1089Ter) rs1554728428
NM_017617.5(NOTCH1):c.3269C>G (p.Thr1090Ser) rs761508282
NM_017617.5(NOTCH1):c.3270C>T (p.Thr1090=) rs773990513
NM_017617.5(NOTCH1):c.3271G>A (p.Gly1091Ser) rs768095251
NM_017617.5(NOTCH1):c.3281G>A (p.Cys1094Tyr) rs1554728424
NM_017617.5(NOTCH1):c.3288G>C (p.Val1096=) rs374944458
NM_017617.5(NOTCH1):c.3294C>T (p.Ser1098=) rs61751546
NM_017617.5(NOTCH1):c.3315G>T (p.Ala1105=) rs3812602
NM_017617.5(NOTCH1):c.3320G>A (p.Arg1107Gln) rs756087913
NM_017617.5(NOTCH1):c.3325+10T>C rs1060504526
NM_017617.5(NOTCH1):c.3333C>T (p.Asp1111=) rs61751545
NM_017617.5(NOTCH1):c.3334G>A (p.Val1112Ile)
NM_017617.5(NOTCH1):c.3341G>A (p.Arg1114His) rs777684045
NM_017617.5(NOTCH1):c.3365G>A (p.Cys1122Tyr)
NM_017617.5(NOTCH1):c.3370G>A (p.Asp1124Asn) rs1564192948
NM_017617.5(NOTCH1):c.3373G>A (p.Ala1125Thr)
NM_017617.5(NOTCH1):c.3374C>T (p.Ala1125Val) rs200871631
NM_017617.5(NOTCH1):c.3384G>A (p.Thr1128=) rs200608278
NM_017617.5(NOTCH1):c.339C>T (p.Asn113=) rs369947231
NM_017617.5(NOTCH1):c.3401A>G (p.Gln1134Arg) rs374230681
NM_017617.5(NOTCH1):c.3403G>A (p.Ala1135Thr) rs1554728380
NM_017617.5(NOTCH1):c.3405G>A (p.Ala1135=) rs192914380
NM_017617.5(NOTCH1):c.3417C>T (p.Gly1139=)
NM_017617.5(NOTCH1):c.3442G>A (p.Glu1148Lys) rs1060502239
NM_017617.5(NOTCH1):c.3469G>A (p.Gly1157Arg) rs549630973
NM_017617.5(NOTCH1):c.3510+3G>A rs372739350
NM_017617.5(NOTCH1):c.3511-10G>A rs139838537
NM_017617.5(NOTCH1):c.3528C>T (p.His1176=) rs202133782
NM_017617.5(NOTCH1):c.3553G>A (p.Asp1185Asn)
NM_017617.5(NOTCH1):c.3555C>T (p.Asp1185=) rs530064649
NM_017617.5(NOTCH1):c.3569A>G (p.His1190Arg)
NM_017617.5(NOTCH1):c.3582C>T (p.Asn1194=) rs746547529
NM_017617.5(NOTCH1):c.3598G>A (p.Asp1200Asn) rs544640305
NM_017617.5(NOTCH1):c.3631C>T (p.Arg1211Trp)
NM_017617.5(NOTCH1):c.3632G>A (p.Arg1211Gln)
NM_017617.5(NOTCH1):c.3642G>A (p.Gln1214=)
NM_017617.5(NOTCH1):c.3644-4G>A rs376161552
NM_017617.5(NOTCH1):c.3644-5C>T rs371070297
NM_017617.5(NOTCH1):c.3663C>T (p.Asn1221=) rs780527525
NM_017617.5(NOTCH1):c.3664G>A (p.Val1222Met) rs112900950
NM_017617.5(NOTCH1):c.3679C>T (p.Pro1227Ser) rs777652834
NM_017617.5(NOTCH1):c.368C>T (p.Thr123Met) rs187473846
NM_017617.5(NOTCH1):c.3694G>A (p.Val1232Met) rs750169914
NM_017617.5(NOTCH1):c.3706C>T (p.Pro1236Ser) rs749988739
NM_017617.5(NOTCH1):c.3741G>C (p.Gln1247His)
NM_017617.5(NOTCH1):c.3767C>T (p.Pro1256Leu) rs80340744
NM_017617.5(NOTCH1):c.3768G>T (p.Pro1256=) rs779987984
NM_017617.5(NOTCH1):c.376A>G (p.Lys126Glu)
NM_017617.5(NOTCH1):c.3780G>C (p.Val1260=) rs201354526
NM_017617.5(NOTCH1):c.3788G>A (p.Arg1263His) rs377594681
NM_017617.5(NOTCH1):c.3807C>T (p.Asn1269=) rs1008389563
NM_017617.5(NOTCH1):c.3829G>A (p.Asp1277Asn) rs550872754
NM_017617.5(NOTCH1):c.382C>T (p.Arg128Cys)
NM_017617.5(NOTCH1):c.3831C>T (p.Asp1277=) rs374989581
NM_017617.5(NOTCH1):c.3835C>T (p.Arg1279Cys) rs182330532
NM_017617.5(NOTCH1):c.3836G>A (p.Arg1279His) rs61751543
NM_017617.5(NOTCH1):c.383G>A (p.Arg128His) rs754086897
NM_017617.5(NOTCH1):c.3852C>T (p.Cys1284=) rs377289044
NM_017617.5(NOTCH1):c.3853G>A (p.Val1285Met) rs756972680
NM_017617.5(NOTCH1):c.3860G>A (p.Arg1287His)
NM_017617.5(NOTCH1):c.3874C>T (p.His1292Tyr) rs372348365
NM_017617.5(NOTCH1):c.3887G>A (p.Arg1296His)
NM_017617.5(NOTCH1):c.3901+10G>A rs561404862
NM_017617.5(NOTCH1):c.3901+9C>T rs370537711
NM_017617.5(NOTCH1):c.3901G>A (p.Gly1301Arg) rs1227711223
NM_017617.5(NOTCH1):c.3908G>A (p.Arg1303His) rs768775024
NM_017617.5(NOTCH1):c.390G>A (p.Pro130=) rs61751559
NM_017617.5(NOTCH1):c.3918C>T (p.Ser1306=) rs770781173
NM_017617.5(NOTCH1):c.3954T>A (p.Asn1318Lys) rs754634957
NM_017617.5(NOTCH1):c.3966C>T (p.Cys1322=) rs753290862
NM_017617.5(NOTCH1):c.3974C>A (p.Ala1325Asp) rs896438598
NM_017617.5(NOTCH1):c.4010C>G (p.Pro1337Arg) rs1043832212
NM_017617.5(NOTCH1):c.4014G>A (p.Ala1338=) rs377217445
NM_017617.5(NOTCH1):c.4027G>A (p.Ala1343Thr) rs369654090
NM_017617.5(NOTCH1):c.4028C>T (p.Ala1343Val) rs183156491
NM_017617.5(NOTCH1):c.4031C>T (p.Thr1344Met) rs201215245
NM_017617.5(NOTCH1):c.4046C>T (p.Ala1349Val)
NM_017617.5(NOTCH1):c.4049G>A (p.Arg1350His)
NM_017617.5(NOTCH1):c.4049G>C (p.Arg1350Pro) rs150343794
NM_017617.5(NOTCH1):c.4049G>T (p.Arg1350Leu) rs150343794
NM_017617.5(NOTCH1):c.4056C>T (p.Cys1352=) rs200099319
NM_017617.5(NOTCH1):c.4064T>C (p.Leu1355Pro)
NM_017617.5(NOTCH1):c.4067G>A (p.Arg1356His) rs864622727
NM_017617.5(NOTCH1):c.4071C>A (p.Cys1357Ter) rs1564191302
NM_017617.5(NOTCH1):c.4096G>A (p.Gly1366Ser) rs778270588
NM_017617.5(NOTCH1):c.4101G>A (p.Pro1367=) rs374921637
NM_017617.5(NOTCH1):c.4120T>C (p.Cys1374Arg) rs864622060
NM_017617.5(NOTCH1):c.4127del (p.Gly1376fs)
NM_017617.5(NOTCH1):c.4129C>T (p.Pro1377Ser) rs61751542
NM_017617.5(NOTCH1):c.4137G>A (p.Thr1379=) rs762733162
NM_017617.5(NOTCH1):c.4141C>T (p.Pro1381Ser)
NM_017617.5(NOTCH1):c.4143C>T (p.Pro1381=) rs539950718
NM_017617.5(NOTCH1):c.4157C>T (p.Pro1386Leu) rs367710569
NM_017617.5(NOTCH1):c.415C>T (p.Gln139Ter) rs1554730670
NM_017617.5(NOTCH1):c.4168C>A (p.Pro1390Thr) rs191645600
NM_017617.5(NOTCH1):c.4185C>T (p.Asn1395=) rs749570626
NM_017617.5(NOTCH1):c.4197C>T (p.Asn1399=) rs989398598
NM_017617.5(NOTCH1):c.4222G>A (p.Glu1408Lys) rs587778569
NM_017617.5(NOTCH1):c.4222G>T (p.Glu1408Ter) rs587778569
NM_017617.5(NOTCH1):c.4237C>A (p.Arg1413Ser) rs1348438354
NM_017617.5(NOTCH1):c.4238G>A (p.Arg1413His) rs371068504
NM_017617.5(NOTCH1):c.4241G>C (p.Cys1414Ser) rs1554728005
NM_017617.5(NOTCH1):c.4263C>T (p.Asn1421=) rs547687521
NM_017617.5(NOTCH1):c.4271T>C (p.Leu1424Ser) rs954507677
NM_017617.5(NOTCH1):c.4282C>G (p.Leu1428Val)
NM_017617.5(NOTCH1):c.4290C>T (p.Tyr1430=) rs78857347
NM_017617.5(NOTCH1):c.4307C>T (p.Ala1436Val) rs371303106
NM_017617.5(NOTCH1):c.4313G>A (p.Arg1438His) rs61751541
NM_017617.5(NOTCH1):c.4314C>T (p.Arg1438=) rs757256477
NM_017617.5(NOTCH1):c.432C>T (p.Cys144=) rs373713957
NM_017617.5(NOTCH1):c.4336G>A (p.Glu1446Lys) rs1198437870
NM_017617.5(NOTCH1):c.4348G>A (p.Glu1450Lys)
NM_017617.5(NOTCH1):c.4371C>T (p.Asp1457=) rs368677987
NM_017617.5(NOTCH1):c.4372G>A (p.Ala1458Thr) rs200495793
NM_017617.5(NOTCH1):c.4374G>A (p.Ala1458=) rs777768691
NM_017617.5(NOTCH1):c.4407C>T (p.Asn1469=) rs202231073
NM_017617.5(NOTCH1):c.4412C>T (p.Ala1471Val)
NM_017617.5(NOTCH1):c.4413G>A (p.Ala1471=) rs756867304
NM_017617.5(NOTCH1):c.4417G>A (p.Gly1473Ser)
NM_017617.5(NOTCH1):c.4451A>G (p.Asn1484Ser) rs759828439
NM_017617.5(NOTCH1):c.4472C>T (p.Thr1491Met) rs369915496
NM_017617.5(NOTCH1):c.4487G>A (p.Cys1496Tyr) rs587781259
NM_017617.5(NOTCH1):c.4492A>G (p.Lys1498Glu)
NM_017617.5(NOTCH1):c.4506C>T (p.Asp1502=) rs751191827
NM_017617.5(NOTCH1):c.4507G>C (p.Gly1503Arg)
NM_017617.5(NOTCH1):c.452A>G (p.Asn151Ser)
NM_017617.5(NOTCH1):c.4536C>T (p.Ala1512=) rs61751540
NM_017617.5(NOTCH1):c.4549G>A (p.Asp1517Asn) rs1554727954
NM_017617.5(NOTCH1):c.454G>A (p.Gly152Ser) rs750242131
NM_017617.5(NOTCH1):c.4551C>T (p.Asp1517=) rs766737406
NM_017617.5(NOTCH1):c.4586+10C>T rs760225110
NM_017617.5(NOTCH1):c.4626C>T (p.Asp1542=) rs142375989
NM_017617.5(NOTCH1):c.4635C>T (p.Cys1545=) rs775752102
NM_017617.5(NOTCH1):c.4640A>G (p.Gln1547Arg) rs1055806143
NM_017617.5(NOTCH1):c.4653C>T (p.Ser1551=) rs368495371
NM_017617.5(NOTCH1):c.4654G>A (p.Ala1552Thr)
NM_017617.5(NOTCH1):c.4655C>T (p.Ala1552Val)
NM_017617.5(NOTCH1):c.4656G>A (p.Ala1552=) rs375091696
NM_017617.5(NOTCH1):c.4663G>A (p.Glu1555Lys)
NM_017617.5(NOTCH1):c.4663G>T (p.Glu1555Ter) rs746342893
NM_017617.5(NOTCH1):c.4686G>A (p.Ala1562=) rs1392196185
NM_017617.5(NOTCH1):c.4699G>A (p.Glu1567Lys) rs1333725995
NM_017617.5(NOTCH1):c.4710G>A (p.Ala1570=) rs773978978
NM_017617.5(NOTCH1):c.4739dup (p.Met1580fs) rs864622061
NM_017617.5(NOTCH1):c.4790G>T (p.Ser1597Ile) rs1564190486
NM_017617.5(NOTCH1):c.4793G>A (p.Arg1598His) rs755124691
NM_017617.5(NOTCH1):c.4794C>T (p.Arg1598=) rs558708604
NM_017617.5(NOTCH1):c.4795G>A (p.Val1599Met)
NM_017617.5(NOTCH1):c.4809C>T (p.Asn1603=) rs370523171
NM_017617.5(NOTCH1):c.4823G>A (p.Arg1608His) rs76371972
NM_017617.5(NOTCH1):c.4827C>T (p.Asp1609=) rs113634293
NM_017617.5(NOTCH1):c.4828G>T (p.Ala1610Ser) rs369467132
NM_017617.5(NOTCH1):c.4829C>T (p.Ala1610Val) rs1554727837
NM_017617.5(NOTCH1):c.4860C>T (p.Tyr1620=) rs375196212
NM_017617.5(NOTCH1):c.4880G>A (p.Arg1627His) rs946083212
NM_017617.5(NOTCH1):c.4887C>T (p.His1629=) rs61751539
NM_017617.5(NOTCH1):c.4915G>A (p.Ala1639Thr) rs878855026
NM_017617.5(NOTCH1):c.4917C>T (p.Ala1639=) rs371365065
NM_017617.5(NOTCH1):c.4918G>A (p.Ala1640Thr) rs976118697
NM_017617.5(NOTCH1):c.4930C>T (p.Leu1644=) rs568700183
NM_017617.5(NOTCH1):c.4952C>T (p.Ser1651Leu) rs1243453790
NM_017617.5(NOTCH1):c.4971C>G (p.Ser1657Arg) rs367838230
NM_017617.5(NOTCH1):c.4971C>T (p.Ser1657=) rs367838230
NM_017617.5(NOTCH1):c.4985G>A (p.Arg1662Gln) rs774808496
NM_017617.5(NOTCH1):c.4988G>A (p.Arg1663Gln) rs749490844
NM_017617.5(NOTCH1):c.4C>G (p.Pro2Ala)
NM_017617.5(NOTCH1):c.5011G>A (p.Val1671Ile) rs2229968
NM_017617.5(NOTCH1):c.5015G>A (p.Arg1672His) rs372830543
NM_017617.5(NOTCH1):c.5017G>A (p.Gly1673Ser) rs1226514285
NM_017617.5(NOTCH1):c.5019-6G>A rs978561896
NM_017617.5(NOTCH1):c.501A>T (p.Pro167=) rs1554730657
NM_017617.5(NOTCH1):c.5023A>G (p.Ile1675Val) rs375408767
NM_017617.5(NOTCH1):c.5069C>T (p.Ser1690Leu) rs552065719
NM_017617.5(NOTCH1):c.5073G>A (p.Gln1691=) rs61751538
NM_017617.5(NOTCH1):c.5103A>G (p.Ala1701=) rs776610176
NM_017617.5(NOTCH1):c.5115G>A (p.Ala1705=) rs201797774
NM_017617.5(NOTCH1):c.5118C>T (p.Leu1706=) rs747037396
NM_017617.5(NOTCH1):c.5124G>T (p.Ser1708=) rs35980907
NM_017617.5(NOTCH1):c.5168-10G>A rs199903655
NM_017617.5(NOTCH1):c.5168-4G>A rs751709616
NM_017617.5(NOTCH1):c.5175C>T (p.Thr1725=) rs61751536
NM_017617.5(NOTCH1):c.5189C>T (p.Pro1730Leu) rs375897519
NM_017617.5(NOTCH1):c.5190G>A (p.Pro1730=) rs369854704
NM_017617.5(NOTCH1):c.5193G>A (p.Pro1731=) rs773981674
NM_017617.5(NOTCH1):c.5195C>T (p.Ala1732Val) rs768040014
NM_017617.5(NOTCH1):c.5218G>T (p.Ala1740Ser) rs864622062
NM_017617.5(NOTCH1):c.5220G>A (p.Ala1740=) rs758562368
NM_017617.5(NOTCH1):c.5223G>A (p.Ala1741=) rs766444406
NM_017617.5(NOTCH1):c.5224G>T (p.Ala1742Ser) rs760669267
NM_017617.5(NOTCH1):c.5226C>T (p.Ala1742=) rs116316039
NM_017617.5(NOTCH1):c.5272C>G (p.Arg1758Gly) rs777859108
NM_017617.5(NOTCH1):c.5273G>A (p.Arg1758His)
NM_017617.5(NOTCH1):c.527G>A (p.Arg176Gln) rs375065108
NM_017617.5(NOTCH1):c.527_528delinsTT (p.Arg176Leu) rs1564203258
NM_017617.5(NOTCH1):c.5282G>A (p.Arg1761Gln) rs750318685
NM_017617.5(NOTCH1):c.5284C>T (p.Arg1762Trp) rs1356199208
NM_017617.5(NOTCH1):c.5285G>A (p.Arg1762Gln) rs942439472
NM_017617.5(NOTCH1):c.5307C>T (p.Phe1769=) rs1400804279
NM_017617.5(NOTCH1):c.5344A>C (p.Lys1782Gln)
NM_017617.5(NOTCH1):c.5361C>T (p.Leu1787=) rs760147171
NM_017617.5(NOTCH1):c.5365G>A (p.Glu1789Lys) rs1198855127
NM_017617.5(NOTCH1):c.5384+6C>T
NM_017617.5(NOTCH1):c.5403A>G (p.Ser1801=) rs201358664
NM_017617.5(NOTCH1):c.5407G>A (p.Gly1803Ser) rs369526652
NM_017617.5(NOTCH1):c.5414T>C (p.Leu1805Pro) rs201779159
NM_017617.5(NOTCH1):c.5416A>G (p.Met1806Val)
NM_017617.5(NOTCH1):c.5418G>A (p.Met1806Ile)
NM_017617.5(NOTCH1):c.5421C>T (p.Asp1807=) rs376590737
NM_017617.5(NOTCH1):c.5423A>G (p.Asp1808Gly)
NM_017617.5(NOTCH1):c.5445C>T (p.Asp1815=) rs61751535
NM_017617.5(NOTCH1):c.5452C>G (p.Leu1818Val) rs1064796983
NM_017617.5(NOTCH1):c.5471G>A (p.Arg1824Gln) rs765309913
NM_017617.5(NOTCH1):c.5492T>C (p.Leu1831Pro) rs1085307869
NM_017617.5(NOTCH1):c.5500C>G (p.Leu1834Val) rs73668312
NM_017617.5(NOTCH1):c.5500C>T (p.Leu1834=) rs73668312
NM_017617.5(NOTCH1):c.5505C>T (p.Asp1835=) rs760776152
NM_017617.5(NOTCH1):c.5506G>A (p.Asp1836Asn) rs200100726
NM_017617.5(NOTCH1):c.550C>T (p.Gln184Ter)
NM_017617.5(NOTCH1):c.5535_5536delinsAA (p.Gln1846Lys) rs878855027
NM_017617.5(NOTCH1):c.5550C>T (p.Ala1850=) rs374451515
NM_017617.5(NOTCH1):c.5560C>T (p.Arg1854Cys) rs376689092
NM_017617.5(NOTCH1):c.5561G>A (p.Arg1854His) rs878855028
NM_017617.5(NOTCH1):c.5568T>C (p.Ser1856=) rs535478432
NM_017617.5(NOTCH1):c.5572A>C (p.Met1858Leu) rs779337715
NM_017617.5(NOTCH1):c.5605G>T (p.Ala1869Ser) rs200603539
NM_017617.5(NOTCH1):c.5673C>T (p.Ser1891=) rs2229972
NM_017617.5(NOTCH1):c.5676G>A (p.Gly1892=) rs763584589
NM_017617.5(NOTCH1):c.5679C>T (p.Gly1893=) rs2229973
NM_017617.5(NOTCH1):c.5685G>A (p.Leu1895=) rs1060504521
NM_017617.5(NOTCH1):c.5690C>T (p.Thr1897Met) rs746237272
NM_017617.5(NOTCH1):c.5698A>G (p.Ser1900Gly) rs200190466
NM_017617.5(NOTCH1):c.5715C>T (p.Asp1905=) rs748200129
NM_017617.5(NOTCH1):c.5716G>A (p.Ala1906Thr) rs779880917
NM_017617.5(NOTCH1):c.5718G>A (p.Ala1906=) rs369730620
NM_017617.5(NOTCH1):c.5776C>T (p.Arg1926Cys) rs199652954
NM_017617.5(NOTCH1):c.5777G>A (p.Arg1926His) rs771407924
NM_017617.5(NOTCH1):c.5780C>T (p.Thr1927Met) rs1554826860
NM_017617.5(NOTCH1):c.5781G>A (p.Thr1927=) rs367587437
NM_017617.5(NOTCH1):c.5784C>T (p.Gly1928=) rs773571672
NM_017617.5(NOTCH1):c.5804C>T (p.Ala1935Val)
NM_017617.5(NOTCH1):c.5829C>A (p.Ala1943=) rs1036442909
NM_017617.5(NOTCH1):c.5830G>A (p.Ala1944Thr) rs371414501
NM_017617.5(NOTCH1):c.5901G>A (p.Ala1967=)
NM_017617.5(NOTCH1):c.5916C>T (p.Asp1972=) rs1045892978
NM_017617.5(NOTCH1):c.591C>T (p.Asn197=) rs370684825
NM_017617.5(NOTCH1):c.5934+8G>A rs747822127
NM_017617.5(NOTCH1):c.5965G>A (p.Asp1989Asn) rs587777734
NM_017617.5(NOTCH1):c.5971C>T (p.Arg1991Cys)
NM_017617.5(NOTCH1):c.5972G>A (p.Arg1991His) rs1371022203
NM_017617.5(NOTCH1):c.5981A>G (p.Asp1994Gly) rs1454512890
NM_017617.5(NOTCH1):c.5987C>T (p.Thr1996Met)
NM_017617.5(NOTCH1):c.5988G>A (p.Thr1996=) rs186453356
NM_017617.5(NOTCH1):c.6010C>T (p.Arg2004Cys)
NM_017617.5(NOTCH1):c.6027C>T (p.Gly2009=) rs1232741465
NM_017617.5(NOTCH1):c.6049_6050del (p.Ser2017fs) rs864622063
NM_017617.5(NOTCH1):c.6058G>A (p.Asp2020Asn) rs752928106
NM_017617.5(NOTCH1):c.6061G>A (p.Val2021Ile)
NM_017617.5(NOTCH1):c.6082+5G>A
NM_017617.5(NOTCH1):c.6083-5C>T rs199786076
NM_017617.5(NOTCH1):c.6084C>G (p.Gly2028=) rs1060504524
NM_017617.5(NOTCH1):c.608G>A (p.Arg203His) rs182763411
NM_017617.5(NOTCH1):c.6094C>T (p.Leu2032=) rs1060504525
NM_017617.5(NOTCH1):c.6100T>C (p.Trp2034Arg) rs1554826698
NM_017617.5(NOTCH1):c.6105C>T (p.Ala2035=) rs188357478
NM_017617.5(NOTCH1):c.6108C>T (p.Ala2036=) rs369167693
NM_017617.5(NOTCH1):c.6109G>T (p.Ala2037Ser) rs1060502237
NM_017617.5(NOTCH1):c.6111C>T (p.Ala2037=) rs749488166
NM_017617.5(NOTCH1):c.6120T>C (p.Asn2040=) rs201625763
NM_017617.5(NOTCH1):c.6128C>T (p.Ala2043Val) rs1554826688
NM_017617.5(NOTCH1):c.6149A>G (p.Asn2050Ser) rs759344174
NM_017617.5(NOTCH1):c.6152G>C (p.Gly2051Ala)
NM_017617.5(NOTCH1):c.6153G>A (p.Gly2051=) rs1554826678
NM_017617.5(NOTCH1):c.6177C>T (p.Asn2059=) rs992614355
NM_017617.5(NOTCH1):c.6180+9G>A rs200371378
NM_017617.5(NOTCH1):c.6180+9G>T rs200371378
NM_017617.5(NOTCH1):c.62-8C>T rs202023246
NM_017617.5(NOTCH1):c.621C>T (p.Arg207=) rs756164624
NM_017617.5(NOTCH1):c.6222C>T (p.Tyr2074=) rs764551640
NM_017617.5(NOTCH1):c.6227C>T (p.Thr2076Ile) rs1022510242
NM_017617.5(NOTCH1):c.6229G>A (p.Ala2077Thr)
NM_017617.5(NOTCH1):c.622G>A (p.Ala208Thr) rs745817995
NM_017617.5(NOTCH1):c.6275A>C (p.His2092Pro) rs1554826539
NM_017617.5(NOTCH1):c.6284G>A (p.Arg2095His) rs756874994
NM_017617.5(NOTCH1):c.6291G>A (p.Pro2097=) rs201987555
NM_017617.5(NOTCH1):c.6293G>A (p.Arg2098His)
NM_017617.5(NOTCH1):c.6294C>T (p.Arg2098=) rs777111928
NM_017617.5(NOTCH1):c.6310C>T (p.Arg2104Cys)
NM_017617.5(NOTCH1):c.6313A>G (p.Met2105Val)
NM_017617.5(NOTCH1):c.6321C>T (p.His2107=) rs532201830
NM_017617.5(NOTCH1):c.6342C>G (p.Asp2114Glu)
NM_017617.5(NOTCH1):c.6343G>A (p.Glu2115Lys) rs777219891
NM_017617.5(NOTCH1):c.6362G>A (p.Ser2121Asn) rs761054017
NM_017617.5(NOTCH1):c.6363C>T (p.Ser2121=) rs61751533
NM_017617.5(NOTCH1):c.6365C>T (p.Pro2122Leu) rs767587816
NM_017617.5(NOTCH1):c.6375C>T (p.His2125=) rs369009290
NM_017617.5(NOTCH1):c.6376G>A (p.Gly2126Arg) rs572960572
NM_017617.5(NOTCH1):c.6396G>A (p.Thr2132=) rs554843595
NM_017617.5(NOTCH1):c.6397C>T (p.Pro2133Ser) rs61733294
NM_017617.5(NOTCH1):c.6409C>T (p.Pro2137Ser) rs372698234
NM_017617.5(NOTCH1):c.6413C>T (p.Pro2138Leu)
NM_017617.5(NOTCH1):c.6422C>T (p.Ser2141Leu) rs767822693
NM_017617.5(NOTCH1):c.6429C>T (p.Asn2143=) rs369845924
NM_017617.5(NOTCH1):c.6454G>C (p.Gly2152Arg) rs116317506
NM_017617.5(NOTCH1):c.6457G>A (p.Val2153Met) rs375073677
NM_017617.5(NOTCH1):c.6463G>A (p.Gly2155Ser) rs1035043614
NM_017617.5(NOTCH1):c.6470A>C (p.Lys2157Thr) rs1564568574
NM_017617.5(NOTCH1):c.6475C>T (p.Arg2159Cys) rs371742334
NM_017617.5(NOTCH1):c.6476G>A (p.Arg2159His) rs1060502233
NM_017617.5(NOTCH1):c.64C>T (p.Pro22Ser) rs114832250
NM_017617.5(NOTCH1):c.6503G>A (p.Cys2168Tyr) rs1055326153
NM_017617.5(NOTCH1):c.6509G>A (p.Ser2170Asn) rs200254239
NM_017617.5(NOTCH1):c.6517G>A (p.Ala2173Thr) rs1060502234
NM_017617.5(NOTCH1):c.6521A>G (p.Lys2174Arg) rs761602495
NM_017617.5(NOTCH1):c.6532G>A (p.Ala2178Thr)
NM_017617.5(NOTCH1):c.6536G>A (p.Arg2179Gln) rs587778571
NM_017617.5(NOTCH1):c.6568C>T (p.Leu2190=) rs1037034230
NM_017617.5(NOTCH1):c.6570G>C (p.Leu2190=) rs200630233
NM_017617.5(NOTCH1):c.6573G>A (p.Leu2191=) rs758591166
NM_017617.5(NOTCH1):c.6577A>G (p.Ser2193Gly) rs1060502236
NM_017617.5(NOTCH1):c.6593C>T (p.Ser2198Leu) rs761562076
NM_017617.5(NOTCH1):c.6636C>T (p.Asp2212=) rs370606059
NM_017617.5(NOTCH1):c.663C>T (p.Pro221=) rs11574872
NM_017617.5(NOTCH1):c.6648G>A (p.Pro2216=) rs3812596
NM_017617.5(NOTCH1):c.6666G>A (p.Pro2222=) rs202229687
NM_017617.5(NOTCH1):c.6685G>A (p.Val2229Met) rs202096917
NM_017617.5(NOTCH1):c.6714C>T (p.Pro2238=) rs201499253
NM_017617.5(NOTCH1):c.6733G>A (p.Gly2245Arg) rs201613894
NM_017617.5(NOTCH1):c.6745G>A (p.Val2249Met) rs369457922
NM_017617.5(NOTCH1):c.674C>G (p.Ser225Trp)
NM_017617.5(NOTCH1):c.6760G>A (p.Glu2254Lys) rs1163673587
NM_017617.5(NOTCH1):c.6769G>A (p.Ala2257Thr) rs587778572
NM_017617.5(NOTCH1):c.6777T>C (p.Gly2259=) rs61751490
NM_017617.5(NOTCH1):c.6784G>A (p.Gly2262Ser) rs780071276
NM_017617.5(NOTCH1):c.6788G>A (p.Arg2263Gln) rs200521815
NM_017617.5(NOTCH1):c.6836C>T (p.Ala2279Val) rs200370953
NM_017617.5(NOTCH1):c.6853G>A (p.Val2285Ile) rs61751489
NM_017617.5(NOTCH1):c.6870C>T (p.Ser2290=) rs61751488
NM_017617.5(NOTCH1):c.687C>T (p.Asn229=) rs535217359
NM_017617.5(NOTCH1):c.6895G>A (p.Gly2299Ser) rs1020747496
NM_017617.5(NOTCH1):c.6897C>T (p.Gly2299=)
NM_017617.5(NOTCH1):c.6898G>A (p.Gly2300Arg) rs587778573
NM_017617.5(NOTCH1):c.6924C>T (p.Cys2308=) rs756653663
NM_017617.5(NOTCH1):c.6937C>T (p.Arg2313Trp)
NM_017617.5(NOTCH1):c.6938G>A (p.Arg2313Gln) rs371069660
NM_017617.5(NOTCH1):c.6949G>A (p.Gly2317Ser) rs747022065
NM_017617.5(NOTCH1):c.6976C>T (p.Leu2326=) rs756811995
NM_017617.5(NOTCH1):c.6979C>T (p.Arg2327Trp) rs751007903
NM_017617.5(NOTCH1):c.6980G>A (p.Arg2327Gln) rs202065858
NM_017617.5(NOTCH1):c.6991G>A (p.Ala2331Thr) rs111309246
NM_017617.5(NOTCH1):c.6993A>G (p.Ala2331=) rs1554826428
NM_017617.5(NOTCH1):c.7017C>T (p.Ala2339=) rs1342843228
NM_017617.5(NOTCH1):c.701G>A (p.Arg234His) rs150737112
NM_017617.5(NOTCH1):c.702C>T (p.Arg234=) rs1392150131
NM_017617.5(NOTCH1):c.707C>T (p.Thr236Met) rs537766290
NM_017617.5(NOTCH1):c.7090A>G (p.Ser2364Gly) rs201045092
NM_017617.5(NOTCH1):c.7115G>A (p.Arg2372Gln) rs373119531
NM_017617.5(NOTCH1):c.711C>T (p.Gly237=) rs61751557
NM_017617.5(NOTCH1):c.7130C>T (p.Pro2377Leu)
NM_017617.5(NOTCH1):c.7145C>T (p.Thr2382Ile) rs1564567924
NM_017617.5(NOTCH1):c.7161A>T (p.Pro2387=) rs1413339098
NM_017617.5(NOTCH1):c.7193A>G (p.Gln2398Arg) rs1564567879
NM_017617.5(NOTCH1):c.7209G>A (p.Gln2403=) rs61751486
NM_017617.5(NOTCH1):c.7223T>C (p.Leu2408Pro) rs767728582
NM_017617.5(NOTCH1):c.7224G>A (p.Leu2408=) rs761927126
NM_017617.5(NOTCH1):c.7232_7234CAC[7] (p.Pro2414_Pro2415dup)
NM_017617.5(NOTCH1):c.7233A>G (p.Pro2411=) rs11574911
NM_017617.5(NOTCH1):c.7250C>T (p.Pro2417Leu) rs370652630
NM_017617.5(NOTCH1):c.7251G>A (p.Pro2417=) rs368498380
NM_017617.5(NOTCH1):c.7279G>A (p.Gly2427Ser) rs370722609
NM_017617.5(NOTCH1):c.7289G>C (p.Gly2430Ala) rs36049318
NM_017617.5(NOTCH1):c.7292G>A (p.Arg2431Gln)
NM_017617.5(NOTCH1):c.7298T>C (p.Phe2433Ser)
NM_017617.5(NOTCH1):c.7313C>T (p.Pro2438Leu) rs199777870
NM_017617.5(NOTCH1):c.7338G>A (p.Leu2446=) rs35320927
NM_017617.5(NOTCH1):c.7357G>A (p.Val2453Met)
NM_017617.5(NOTCH1):c.7363A>G (p.Thr2455Ala) rs536167222
NM_017617.5(NOTCH1):c.7366A>G (p.Ile2456Val)
NM_017617.5(NOTCH1):c.7369C>G (p.Leu2457Val) rs61755043
NM_017617.5(NOTCH1):c.7390C>T (p.Leu2464=) rs372760677
NM_017617.5(NOTCH1):c.7397C>T (p.Thr2466Met) rs369167555
NM_017617.5(NOTCH1):c.7417G>A (p.Val2473Ile)
NM_017617.5(NOTCH1):c.743-1G>T rs587777735
NM_017617.5(NOTCH1):c.743-4G>T rs748001079
NM_017617.5(NOTCH1):c.7432G>A (p.Ala2478Thr)
NM_017617.5(NOTCH1):c.7449G>A (p.Thr2483=) rs375728200
NM_017617.5(NOTCH1):c.7498C>G (p.His2500Asp) rs763902589
NM_017617.5(NOTCH1):c.750C>A (p.Thr250=) rs375772590
NM_017617.5(NOTCH1):c.7515T>G (p.Pro2505=) rs34152221
NM_017617.5(NOTCH1):c.751G>A (p.Gly251Ser) rs755667439
NM_017617.5(NOTCH1):c.7529T>C (p.Leu2510Pro) rs1554826340
NM_017617.5(NOTCH1):c.7536G>A (p.Pro2512=) rs192299793
NM_017617.5(NOTCH1):c.7539C>T (p.Ser2513=) rs758931699
NM_017617.5(NOTCH1):c.7541_7542del (p.Pro2514fs) rs763016003
NM_017617.5(NOTCH1):c.7545G>T (p.Glu2515Asp) rs1365732147
NM_017617.5(NOTCH1):c.7569G>A (p.Ser2523=) rs534623042
NM_017617.5(NOTCH1):c.7585G>A (p.Val2529Ile) rs1052013977
NM_017617.5(NOTCH1):c.7606G>A (p.Val2536Ile) rs111627256
NM_017617.5(NOTCH1):c.7631A>G (p.Gln2544Arg)
NM_017617.5(NOTCH1):c.7648A>G (p.Ile2550Val) rs188270459
NM_017617.5(NOTCH1):c.7653G>A (p.Pro2551=)
NM_017617.5(NOTCH1):c.775G>A (p.Asp259Asn) rs763187824
NM_017617.5(NOTCH1):c.794_797delinsCC (p.Asn265fs) rs1554730184
NM_017617.5(NOTCH1):c.79C>A (p.Pro27Thr) rs769784635
NM_017617.5(NOTCH1):c.804C>T (p.Asn268=) rs774222164
NM_017617.5(NOTCH1):c.823G>A (p.Gly275Ser) rs371333249
NM_017617.5(NOTCH1):c.825C>T (p.Gly275=) rs61751556
NM_017617.5(NOTCH1):c.839A>G (p.Asn280Ser) rs367825691
NM_017617.5(NOTCH1):c.851C>T (p.Pro284Leu) rs376104770
NM_017617.5(NOTCH1):c.865+4C>T rs527248111
NM_017617.5(NOTCH1):c.873C>T (p.Tyr291=) rs143654474
NM_017617.5(NOTCH1):c.892G>C (p.Glu298Gln) rs1060502232
NM_017617.5(NOTCH1):c.912T>C (p.Asn304=) rs1060504522
NM_017617.5(NOTCH1):c.975C>T (p.Asn325=) rs746111102
NM_017617.5(NOTCH1):c.999C>T (p.Ser333=) rs751646144
NM_019074.4(DLL4):c.1168T>C (p.Cys390Arg) rs796065347
NM_019074.4(DLL4):c.1169G>A (p.Cys390Tyr) rs796065346
NM_019074.4(DLL4):c.1240+5G>C rs1555393082
NM_019074.4(DLL4):c.1310G>C (p.Cys437Ser) rs1555393125
NM_019074.4(DLL4):c.1365C>G (p.Cys455Trp) rs796065345
NM_019074.4(DLL4):c.1397G>A (p.Cys466Tyr) rs1247027543
NM_019074.4(DLL4):c.1660C>T (p.Gln554Ter) rs796065344
NM_019074.4(DLL4):c.1672C>T (p.Arg558Ter) rs61750844
NM_019074.4(DLL4):c.1825C>T (p.Gln609Ter) rs1555393182
NM_019074.4(DLL4):c.265_267del (p.Phe89del) rs1555392837
NM_019074.4(DLL4):c.361G>C (p.Ala121Pro) rs796065350
NM_019074.4(DLL4):c.556C>T (p.Arg186Cys) rs796065348
NM_019074.4(DLL4):c.583T>C (p.Phe195Leu) rs796065351
NM_019074.4(DLL4):c.799C>A (p.Pro267Thr) rs796065349
NM_019074.4(DLL4):c.949A>C (p.Thr317Pro) rs1555393027
NM_020754.3(ARHGAP31):c.349-9_349-7del rs771235886
NM_020754.4(ARHGAP31):c.*105T>C rs185124298
NM_020754.4(ARHGAP31):c.*1089C>T rs886057805
NM_020754.4(ARHGAP31):c.*1126A>T rs116466342
NM_020754.4(ARHGAP31):c.*1156C>G rs115630304
NM_020754.4(ARHGAP31):c.*1176T>G rs114261128
NM_020754.4(ARHGAP31):c.*1186A>G rs886057806
NM_020754.4(ARHGAP31):c.*1219C>T rs113918185
NM_020754.4(ARHGAP31):c.*1233A>G rs886057807
NM_020754.4(ARHGAP31):c.*1238T>C rs115845847
NM_020754.4(ARHGAP31):c.*1311A>T rs146808640
NM_020754.4(ARHGAP31):c.*1373G>A rs750355275
NM_020754.4(ARHGAP31):c.*1386A>T rs180781573
NM_020754.4(ARHGAP31):c.*1387_*1390CTCA[1] rs201595453
NM_020754.4(ARHGAP31):c.*1533T>C rs567101775
NM_020754.4(ARHGAP31):c.*1648C>T rs886057809
NM_020754.4(ARHGAP31):c.*1657C>T rs78943363
NM_020754.4(ARHGAP31):c.*1692G>T rs76616804
NM_020754.4(ARHGAP31):c.*1712T>C rs72968497
NM_020754.4(ARHGAP31):c.*1811G>A rs886057810
NM_020754.4(ARHGAP31):c.*183A>G rs886057804
NM_020754.4(ARHGAP31):c.*1978T>A rs886057811
NM_020754.4(ARHGAP31):c.*1987C>G rs559362755
NM_020754.4(ARHGAP31):c.*1995G>A rs186689946
NM_020754.4(ARHGAP31):c.*2051C>A rs74665630
NM_020754.4(ARHGAP31):c.*2101A>T rs886057812
NM_020754.4(ARHGAP31):c.*2110G>A rs886057813
NM_020754.4(ARHGAP31):c.*2173G>A rs534303032
NM_020754.4(ARHGAP31):c.*2178C>T rs770268525
NM_020754.4(ARHGAP31):c.*2192G>T rs566368695
NM_020754.4(ARHGAP31):c.*2281C>G rs183825811
NM_020754.4(ARHGAP31):c.*2355A>G rs12631504
NM_020754.4(ARHGAP31):c.*2471G>T rs886057814
NM_020754.4(ARHGAP31):c.*267C>T rs3732415
NM_020754.4(ARHGAP31):c.*2689C>T rs529808528
NM_020754.4(ARHGAP31):c.*2693G>A rs12494943
NM_020754.4(ARHGAP31):c.*269A>G rs74767080
NM_020754.4(ARHGAP31):c.*2743C>A rs78013508
NM_020754.4(ARHGAP31):c.*2743C>G rs78013508
NM_020754.4(ARHGAP31):c.*2744A>G rs9289129
NM_020754.4(ARHGAP31):c.*2764C>A rs886057815
NM_020754.4(ARHGAP31):c.*2801C>T rs12495539
NM_020754.4(ARHGAP31):c.*2802G>A rs77420174
NM_020754.4(ARHGAP31):c.*2842T>C rs147003993
NM_020754.4(ARHGAP31):c.*2912A>G rs886057816
NM_020754.4(ARHGAP31):c.*2935C>T rs886057817
NM_020754.4(ARHGAP31):c.*3013G>A rs73857025
NM_020754.4(ARHGAP31):c.*3021G>A rs116075883
NM_020754.4(ARHGAP31):c.*3123A>G rs574039254
NM_020754.4(ARHGAP31):c.*3166C>G rs138144745
NM_020754.4(ARHGAP31):c.*38T>G rs886057803
NM_020754.4(ARHGAP31):c.*466C>T rs116944967
NM_020754.4(ARHGAP31):c.*590C>G rs145064712
NM_020754.4(ARHGAP31):c.*590C>T rs145064712
NM_020754.4(ARHGAP31):c.*610T>A rs779853850
NM_020754.4(ARHGAP31):c.*737A>G rs185158937
NM_020754.4(ARHGAP31):c.*985_*986insC rs11391882
NM_020754.4(ARHGAP31):c.-105C>T rs886057797
NM_020754.4(ARHGAP31):c.-149G>A rs62265186
NM_020754.4(ARHGAP31):c.-172_-166CCCGCGG[3] rs886057796
NM_020754.4(ARHGAP31):c.-194G>A rs4687994
NM_020754.4(ARHGAP31):c.-199C>T rs886057795
NM_020754.4(ARHGAP31):c.-209C>T rs886057794
NM_020754.4(ARHGAP31):c.-295A>G rs549187231
NM_020754.4(ARHGAP31):c.-369G>A rs548441120
NM_020754.4(ARHGAP31):c.-38C>A rs72960626
NM_020754.4(ARHGAP31):c.-390G>C rs886057793
NM_020754.4(ARHGAP31):c.-40G>A rs149723943
NM_020754.4(ARHGAP31):c.-443C>G rs886057792
NM_020754.4(ARHGAP31):c.100+9C>T rs76783588
NM_020754.4(ARHGAP31):c.1044C>T (p.Asp348=) rs369521143
NM_020754.4(ARHGAP31):c.1065= (p.Val355=) rs4688001
NM_020754.4(ARHGAP31):c.1178A>G (p.Lys393Arg) rs574813801
NM_020754.4(ARHGAP31):c.1184A>G (p.Glu395Gly) rs760929413
NM_020754.4(ARHGAP31):c.1307G>A (p.Arg436Gln) rs752035106
NM_020754.4(ARHGAP31):c.1371G>T (p.Ser457=) rs753753846
NM_020754.4(ARHGAP31):c.1430C>T (p.Pro477Leu) rs200233879
NM_020754.4(ARHGAP31):c.1491C>A (p.Arg497=) rs61747387
NM_020754.4(ARHGAP31):c.1533A>G (p.Thr511=) rs77678258
NM_020754.4(ARHGAP31):c.1538C>T (p.Pro513Leu) rs886057800
NM_020754.4(ARHGAP31):c.1614A>G (p.Glu538=) rs61744411
NM_020754.4(ARHGAP31):c.1618A>G (p.Lys540Glu) rs61744410
NM_020754.4(ARHGAP31):c.1700C>T (p.Pro567Leu) rs61744178
NM_020754.4(ARHGAP31):c.1701G>A (p.Pro567=) rs2305249
NM_020754.4(ARHGAP31):c.1823C>T (p.Pro608Leu) rs773084870
NM_020754.4(ARHGAP31):c.1926+11T>C rs1463138
NM_020754.4(ARHGAP31):c.1926+13C>A rs140274779
NM_020754.4(ARHGAP31):c.1926+5A>G rs1463139
NM_020754.4(ARHGAP31):c.203+6C>T rs141911639
NM_020754.4(ARHGAP31):c.2036C>T (p.Thr679Ile) rs61736796
NM_020754.4(ARHGAP31):c.2047C>T (p.Gln683Ter) rs387907031
NM_020754.4(ARHGAP31):c.2180C>T (p.Thr727Ile) rs539048828
NM_020754.4(ARHGAP31):c.2182C>T (p.Gln728Ter) rs1553768038
NM_020754.4(ARHGAP31):c.2359C>G (p.Pro787Ala) rs186621177
NM_020754.4(ARHGAP31):c.2359C>T (p.Pro787Ser) rs186621177
NM_020754.4(ARHGAP31):c.2407G>A (p.Gly803Ser) rs3732413
NM_020754.4(ARHGAP31):c.2412G>A (p.Pro804=) rs776194035
NM_020754.4(ARHGAP31):c.2497C>T (p.Leu833Phe) rs201970872
NM_020754.4(ARHGAP31):c.2568G>A (p.Gly856=) rs770529130
NM_020754.4(ARHGAP31):c.2777C>T (p.Ala926Val) rs771980065
NM_020754.4(ARHGAP31):c.2778G>A (p.Ala926=) rs61740281
NM_020754.4(ARHGAP31):c.2814G>T (p.Gln938His) rs201519258
NM_020754.4(ARHGAP31):c.2940A>G (p.Thr980=) rs746965144
NM_020754.4(ARHGAP31):c.3104C>T (p.Thr1035Ile) rs201997376
NM_020754.4(ARHGAP31):c.3179G>A (p.Gly1060Asp) rs886057801
NM_020754.4(ARHGAP31):c.3256G>A (p.Ala1086Thr) rs61744168
NM_020754.4(ARHGAP31):c.3260del (p.Lys1087fs) rs1559999373
NM_020754.4(ARHGAP31):c.3458A>G (p.Asp1153Gly) rs184040818
NM_020754.4(ARHGAP31):c.349-7T>G rs200397968
NM_020754.4(ARHGAP31):c.3615C>T (p.Pro1205=) rs3732414
NM_020754.4(ARHGAP31):c.3801C>T (p.Pro1267=) rs200959673
NM_020754.4(ARHGAP31):c.3802G>A (p.Gly1268Arg) rs149658506
NM_020754.4(ARHGAP31):c.384G>C (p.Leu128=) rs150339878
NM_020754.4(ARHGAP31):c.3876A>G (p.Pro1292=) rs886057802
NM_020754.4(ARHGAP31):c.3953G>T (p.Gly1318Val) rs529703977
NM_020754.4(ARHGAP31):c.3983G>A (p.Arg1328Gln) rs199708581
NM_020754.4(ARHGAP31):c.4084C>G (p.Pro1362Ala) rs376066861
NM_020754.4(ARHGAP31):c.4096G>A (p.Val1366Met) rs3796360
NM_020754.4(ARHGAP31):c.4110G>A (p.Lys1370=) rs76054211
NM_020754.4(ARHGAP31):c.4132A>G (p.Ser1378Gly) rs193198313
NM_020754.4(ARHGAP31):c.4139C>T (p.Thr1380Ile)
NM_020754.4(ARHGAP31):c.432-7A>G rs10049221
NM_020754.4(ARHGAP31):c.435C>G (p.Thr145=) rs201927115
NM_020754.4(ARHGAP31):c.436T>C (p.Leu146=) rs758994452
NM_020754.4(ARHGAP31):c.473C>T (p.Ser158Phe) rs779651681
NM_020754.4(ARHGAP31):c.540-6C>T rs16829782
NM_020754.4(ARHGAP31):c.662C>T (p.Pro221Leu) rs751793
NM_020754.4(ARHGAP31):c.820C>T (p.Pro274Ser) rs139600783
NM_020754.4(ARHGAP31):c.843C>T (p.Gly281=) rs886057799
NM_020754.4(ARHGAP31):c.848T>A (p.Leu283His) rs773314411
NM_020754.4(ARHGAP31):c.881+7G>A rs78837524
NM_020754.4(ARHGAP31):c.936T>C (p.Arg312=) rs200813566
NM_020812.4(DOCK6):c.1362_1365del (p.Thr455fs) rs730882238
NM_020812.4(DOCK6):c.2104G>A (p.Gly702Ser) rs199838752
NM_020812.4(DOCK6):c.2520dup (p.Arg841fs) rs397509398
NM_020812.4(DOCK6):c.2767G>A (p.Val923Ile) rs143194982
NM_020812.4(DOCK6):c.2956-5C>T rs3810309
NM_020812.4(DOCK6):c.3154G>A (p.Glu1052Lys) rs774877657
NM_020812.4(DOCK6):c.3507A>T (p.Leu1169=) rs3810307
NM_020812.4(DOCK6):c.3562C>T (p.Gln1188Ter) rs372751467
NM_020812.4(DOCK6):c.377+12T>A rs8113582
NM_020812.4(DOCK6):c.3858T>C (p.Asp1286=) rs4804152
NM_020812.4(DOCK6):c.3876A>G (p.Leu1292=) rs4804151
NM_020812.4(DOCK6):c.3894+19G>A rs4804150
NM_020812.4(DOCK6):c.4044G>A (p.Pro1348=) rs2304154
NM_020812.4(DOCK6):c.4050T>C (p.Asn1350=) rs2304155
NM_020812.4(DOCK6):c.4107-1G>C rs397509399
NM_020812.4(DOCK6):c.4344G>A (p.Pro1448=) rs200307398
NM_020812.4(DOCK6):c.4469G>A (p.Arg1490Gln) rs200472954
NM_020812.4(DOCK6):c.4576C>T (p.Arg1526Ter) rs374530179
NM_020812.4(DOCK6):c.4824_4828del (p.Glu1609fs) rs1555826472
NM_020812.4(DOCK6):c.4895C>T (p.Ala1632Val) rs117328686
NM_020812.4(DOCK6):c.4959C>T (p.Asn1653=) rs8409
NM_020812.4(DOCK6):c.5361+4C>T rs3745682
NM_020812.4(DOCK6):c.5939+2T>C rs201387914
NM_020812.4(DOCK6):c.6097C>T (p.Leu2033Phe)
NM_020812.4(DOCK6):c.749C>T (p.Pro250Leu) rs12978266
NM_020812.4(DOCK6):c.788T>A (p.Val263Asp) rs879255610
NOTCH1, 85-KB DEL
Single allele

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