NM_017617.5(NOTCH1):c.2263_2265del (p.Asn755del)
|
rs587778559
|
0.00021
|
NM_017617.5(NOTCH1):c.383G>A (p.Arg128His)
|
rs754086897
|
0.00019
|
NM_017617.5(NOTCH1):c.2218G>A (p.Asp740Asn)
|
rs200816814
|
0.00018
|
NM_017617.5(NOTCH1):c.454G>A (p.Gly152Ser)
|
rs750242131
|
0.00017
|
NM_017617.5(NOTCH1):c.839A>G (p.Asn280Ser)
|
rs367825691
|
0.00017
|
NM_017617.5(NOTCH1):c.2191C>T (p.Arg731Trp)
|
rs199666126
|
0.00016
|
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.1837C>T (p.Arg613Cys)
|
rs763988265
|
0.00011
|
NM_017617.5(NOTCH1):c.2359A>G (p.Asn787Asp)
|
rs199672693
|
0.00011
|
NM_017617.5(NOTCH1):c.2636G>A (p.Arg879Gln)
|
rs368011392
|
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.6788G>A (p.Arg2263Gln)
|
rs200521815
|
0.00010
|
NM_017617.5(NOTCH1):c.2352C>T (p.Ser784=)
|
rs774701000
|
0.00009
|
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.4373C>T (p.Ala1458Val)
|
rs374352922
|
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.4795G>A (p.Val1599Met)
|
rs543770603
|
0.00007
|
NM_017617.5(NOTCH1):c.6283C>T (p.Arg2095Cys)
|
rs780873661
|
0.00007
|
NM_017617.5(NOTCH1):c.6583G>A (p.Gly2195Ser)
|
rs376422513
|
0.00007
|
NM_017617.5(NOTCH1):c.7397C>T (p.Thr2466Met)
|
rs369167555
|
0.00007
|
NM_017617.5(NOTCH1):c.1510C>T (p.Arg504Cys)
|
rs752071569
|
0.00006
|
NM_017617.5(NOTCH1):c.274G>C (p.Gly92Arg)
|
rs1397413424
|
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.448G>A (p.Ala150Thr)
|
rs372660483
|
0.00006
|
NM_017617.5(NOTCH1):c.4718C>T (p.Thr1573Met)
|
rs573864607
|
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.7363A>G (p.Thr2455Ala)
|
rs536167222
|
0.00006
|
NM_017617.5(NOTCH1):c.1664C>T (p.Thr555Met)
|
rs746796894
|
0.00005
|
NM_017617.5(NOTCH1):c.2521G>A (p.Gly841Ser)
|
rs369259434
|
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.4238G>A (p.Arg1413His)
|
rs371068504
|
0.00005
|
NM_017617.5(NOTCH1):c.4492A>G (p.Lys1498Glu)
|
rs745681787
|
0.00005
|
NM_017617.5(NOTCH1):c.4793G>A (p.Arg1598His)
|
rs755124691
|
0.00005
|
NM_017617.5(NOTCH1):c.5248G>A (p.Val1750Met)
|
rs368396893
|
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.1904-3C>A
|
rs748118679
|
0.00004
|
NM_017617.5(NOTCH1):c.2207+6C>T
|
rs545872006
|
0.00004
|
NM_017617.5(NOTCH1):c.2353G>A (p.Gly785Ser)
|
rs764191723
|
0.00004
|
NM_017617.5(NOTCH1):c.2576C>T (p.Thr859Met)
|
rs199505287
|
0.00004
|
NM_017617.5(NOTCH1):c.2728G>A (p.Asp910Asn)
|
rs765293859
|
0.00004
|
NM_017617.5(NOTCH1):c.3121G>A (p.Gly1041Ser)
|
rs375260339
|
0.00004
|
NM_017617.5(NOTCH1):c.3374C>T (p.Ala1125Val)
|
rs200871631
|
0.00004
|
NM_017617.5(NOTCH1):c.3905G>A (p.Arg1302His)
|
rs762091081
|
0.00004
|
NM_017617.5(NOTCH1):c.3980A>G (p.Asn1327Ser)
|
rs751874720
|
0.00004
|
NM_017617.5(NOTCH1):c.5017G>A (p.Gly1673Ser)
|
rs1226514285
|
0.00004
|
NM_017617.5(NOTCH1):c.5416A>G (p.Met1806Val)
|
rs114479009
|
0.00004
|
NM_017617.5(NOTCH1):c.5542C>A (p.Leu1848Met)
|
rs35652719
|
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.6577A>G (p.Ser2193Gly)
|
rs1060502236
|
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.1441+4C>T
|
rs764082065
|
0.00003
|
NM_017617.5(NOTCH1):c.1543G>C (p.Glu515Gln)
|
rs749085650
|
0.00003
|
NM_017617.5(NOTCH1):c.1554G>A (p.Thr518=)
|
rs190721271
|
0.00003
|
NM_017617.5(NOTCH1):c.1747G>A (p.Gly583Ser)
|
rs757066417
|
0.00003
|
NM_017617.5(NOTCH1):c.2003C>T (p.Pro668Leu)
|
rs576030298
|
0.00003
|
NM_017617.5(NOTCH1):c.2458C>T (p.Pro820Ser)
|
rs1379596542
|
0.00003
|
NM_017617.5(NOTCH1):c.3110A>C (p.Gln1037Pro)
|
rs1408874772
|
0.00003
|
NM_017617.5(NOTCH1):c.3341G>A (p.Arg1114His)
|
rs777684045
|
0.00003
|
NM_017617.5(NOTCH1):c.3510+3G>A
|
rs372739350
|
0.00003
|
NM_017617.5(NOTCH1):c.3664G>A (p.Val1222Met)
|
rs112900950
|
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.500C>T (p.Pro167Leu)
|
rs370951369
|
0.00003
|
NM_017617.5(NOTCH1):c.5716G>A (p.Ala1906Thr)
|
rs779880917
|
0.00003
|
NM_017617.5(NOTCH1):c.6481C>T (p.Pro2161Ser)
|
rs201518848
|
0.00003
|
NM_017617.5(NOTCH1):c.7115G>A (p.Arg2372Gln)
|
rs373119531
|
0.00003
|
NM_017617.5(NOTCH1):c.7279G>A (p.Gly2427Ser)
|
rs370722609
|
0.00003
|
NM_017617.5(NOTCH1):c.7541_7542del (p.Pro2514fs)
|
rs763016003
|
0.00003
|
NM_017617.5(NOTCH1):c.1250C>T (p.Ser417Leu)
|
rs757631575
|
0.00002
|
NM_017617.5(NOTCH1):c.1357G>A (p.Val453Ile)
|
rs761629787
|
0.00002
|
NM_017617.5(NOTCH1):c.148G>A (p.Gly50Arg)
|
rs776758626
|
0.00002
|
NM_017617.5(NOTCH1):c.152C>A (p.Ala51Asp)
|
rs771954465
|
0.00002
|
NM_017617.5(NOTCH1):c.1693G>A (p.Val565Met)
|
rs750330670
|
0.00002
|
NM_017617.5(NOTCH1):c.2014+6C>T
|
rs529806324
|
0.00002
|
NM_017617.5(NOTCH1):c.2068G>A (p.Gly690Arg)
|
rs764112977
|
0.00002
|
NM_017617.5(NOTCH1):c.2297G>T (p.Gly766Val)
|
rs374434131
|
0.00002
|
NM_017617.5(NOTCH1):c.2917G>A (p.Ala973Thr)
|
rs200699541
|
0.00002
|
NM_017617.5(NOTCH1):c.3269C>G (p.Thr1090Ser)
|
rs761508282
|
0.00002
|
NM_017617.5(NOTCH1):c.3701G>A (p.Arg1234Gln)
|
rs773926521
|
0.00002
|
NM_017617.5(NOTCH1):c.3900C>T (p.Thr1300=)
|
rs201791826
|
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.5471G>A (p.Arg1824Gln)
|
rs765309913
|
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.708G>A (p.Thr236=)
|
rs774679591
|
0.00002
|
NM_017617.5(NOTCH1):c.7372C>A (p.Pro2458Thr)
|
rs752802795
|
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.1000G>A (p.Glu334Lys)
|
rs779061035
|
0.00001
|
NM_017617.5(NOTCH1):c.1094G>A (p.Arg365His)
|
rs775991013
|
0.00001
|
NM_017617.5(NOTCH1):c.1205C>T (p.Ser402Leu)
|
rs1037236860
|
0.00001
|
NM_017617.5(NOTCH1):c.1220C>T (p.Pro407Leu)
|
rs754529382
|
0.00001
|
NM_017617.5(NOTCH1):c.1237G>A (p.Val413Met)
|
rs373770404
|
0.00001
|
NM_017617.5(NOTCH1):c.157G>A (p.Val53Met)
|
rs757497167
|
0.00001
|
NM_017617.5(NOTCH1):c.1582G>A (p.Asp528Asn)
|
rs757988142
|
0.00001
|
NM_017617.5(NOTCH1):c.1636G>A (p.Gly546Arg)
|
rs764185451
|
0.00001
|
NM_017617.5(NOTCH1):c.1648T>G (p.Tyr550Asp)
|
rs1843262478
|
0.00001
|
NM_017617.5(NOTCH1):c.1669+5G>A
|
rs771590616
|
0.00001
|
NM_017617.5(NOTCH1):c.1676C>T (p.Thr559Met)
|
rs376055493
|
0.00001
|
NM_017617.5(NOTCH1):c.1721C>T (p.Pro574Leu)
|
rs771263341
|
0.00001
|
NM_017617.5(NOTCH1):c.1750G>A (p.Val584Ile)
|
rs763886355
|
0.00001
|
NM_017617.5(NOTCH1):c.1760T>A (p.Phe587Tyr)
|
rs771440130
|
0.00001
|
NM_017617.5(NOTCH1):c.1775G>A (p.Arg592His)
|
rs544117297
|
0.00001
|
NM_017617.5(NOTCH1):c.1778C>T (p.Pro593Leu)
|
rs886039014
|
0.00001
|
NM_017617.5(NOTCH1):c.1903+6C>T
|
rs753388966
|
0.00001
|
NM_017617.5(NOTCH1):c.1918A>G (p.Ile640Val)
|
rs1307313338
|
0.00001
|
NM_017617.5(NOTCH1):c.1924C>G (p.Leu642Val)
|
rs755740633
|
0.00001
|
NM_017617.5(NOTCH1):c.1972A>G (p.Lys658Glu)
|
rs1260932753
|
0.00001
|
NM_017617.5(NOTCH1):c.2074A>G (p.Thr692Ala)
|
rs1385815860
|
0.00001
|
NM_017617.5(NOTCH1):c.2128G>A (p.Asp710Asn)
|
rs950236535
|
0.00001
|
NM_017617.5(NOTCH1):c.2207+5G>A
|
rs1214619547
|
0.00001
|
NM_017617.5(NOTCH1):c.244G>A (p.Val82Met)
|
rs571831870
|
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.2597G>C (p.Cys866Ser)
|
rs763469662
|
0.00001
|
NM_017617.5(NOTCH1):c.2605G>A (p.Asp869Asn)
|
rs1420968156
|
0.00001
|
NM_017617.5(NOTCH1):c.2614G>A (p.Glu872Lys)
|
rs762050048
|
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.2882C>T (p.Thr961Met)
|
rs377343669
|
0.00001
|
NM_017617.5(NOTCH1):c.3040A>T (p.Thr1014Ser)
|
rs1181594680
|
0.00001
|
NM_017617.5(NOTCH1):c.3095A>G (p.His1032Arg)
|
rs1397562033
|
0.00001
|
NM_017617.5(NOTCH1):c.3211G>A (p.Gly1071Ser)
|
rs587778566
|
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.3442G>A (p.Glu1148Lys)
|
rs1060502239
|
0.00001
|
NM_017617.5(NOTCH1):c.347C>T (p.Thr116Ile)
|
rs1308100068
|
0.00001
|
NM_017617.5(NOTCH1):c.3482C>T (p.Thr1161Met)
|
rs769903954
|
0.00001
|
NM_017617.5(NOTCH1):c.3529G>A (p.Gly1177Arg)
|
rs754086177
|
0.00001
|
NM_017617.5(NOTCH1):c.3569A>G (p.His1190Arg)
|
rs775438678
|
0.00001
|
NM_017617.5(NOTCH1):c.3644-7C>G
|
rs1243301340
|
0.00001
|
NM_017617.5(NOTCH1):c.3694G>A (p.Val1232Met)
|
rs750169914
|
0.00001
|
NM_017617.5(NOTCH1):c.3733G>A (p.Val1245Met)
|
rs926643780
|
0.00001
|
NM_017617.5(NOTCH1):c.3787C>T (p.Arg1263Cys)
|
rs1415111675
|
0.00001
|
NM_017617.5(NOTCH1):c.3866A>G (p.Asn1289Ser)
|
rs1281437674
|
0.00001
|
NM_017617.5(NOTCH1):c.3879C>T (p.Cys1293=)
|
rs777242726
|
0.00001
|
NM_017617.5(NOTCH1):c.3901G>A (p.Gly1301Arg)
|
rs1227711223
|
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.4052C>T (p.Thr1351Ile)
|
rs1357611221
|
0.00001
|
NM_017617.5(NOTCH1):c.4066C>T (p.Arg1356Cys)
|
rs587778567
|
0.00001
|
NM_017617.5(NOTCH1):c.4180G>A (p.Gly1394Ser)
|
rs1210347209
|
0.00001
|
NM_017617.5(NOTCH1):c.4237C>A (p.Arg1413Ser)
|
rs1348438354
|
0.00001
|
NM_017617.5(NOTCH1):c.4264G>A (p.Gly1422Arg)
|
rs1255471066
|
0.00001
|
NM_017617.5(NOTCH1):c.4309G>A (p.Gly1437Arg)
|
rs780500109
|
0.00001
|
NM_017617.5(NOTCH1):c.4451A>G (p.Asn1484Ser)
|
rs759828439
|
0.00001
|
NM_017617.5(NOTCH1):c.4472C>T (p.Thr1491Met)
|
rs369915496
|
0.00001
|
NM_017617.5(NOTCH1):c.452A>G (p.Asn151Ser)
|
rs766362765
|
0.00001
|
NM_017617.5(NOTCH1):c.4568G>A (p.Arg1523His)
|
rs367589813
|
0.00001
|
NM_017617.5(NOTCH1):c.4571C>T (p.Ala1524Val)
|
rs774374213
|
0.00001
|
NM_017617.5(NOTCH1):c.4588C>T (p.Pro1530Ser)
|
rs750808945
|
0.00001
|
NM_017617.5(NOTCH1):c.4654G>A (p.Ala1552Thr)
|
rs1438164851
|
0.00001
|
NM_017617.5(NOTCH1):c.4655C>T (p.Ala1552Val)
|
rs748862853
|
0.00001
|
NM_017617.5(NOTCH1):c.4675C>T (p.Leu1559=)
|
rs370713185
|
0.00001
|
NM_017617.5(NOTCH1):c.4717A>G (p.Thr1573Ala)
|
rs762492041
|
0.00001
|
NM_017617.5(NOTCH1):c.4742C>T (p.Pro1581Leu)
|
rs746431035
|
0.00001
|
NM_017617.5(NOTCH1):c.4865G>A (p.Arg1622His)
|
rs778271353
|
0.00001
|
NM_017617.5(NOTCH1):c.4880G>A (p.Arg1627His)
|
rs946083212
|
0.00001
|
NM_017617.5(NOTCH1):c.4952C>T (p.Ser1651Leu)
|
rs1243453790
|
0.00001
|
NM_017617.5(NOTCH1):c.499C>T (p.Pro167Ser)
|
rs1439038323
|
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.5284C>T (p.Arg1762Trp)
|
rs1356199208
|
0.00001
|
NM_017617.5(NOTCH1):c.5350C>T (p.Arg1784Trp)
|
rs1843010487
|
0.00001
|
NM_017617.5(NOTCH1):c.5384+6C>T
|
rs747363366
|
0.00001
|
NM_017617.5(NOTCH1):c.5413C>T (p.Leu1805Phe)
|
rs775497405
|
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.5495C>G (p.Pro1832Arg)
|
rs1425070721
|
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.5674G>A (p.Gly1892Arg)
|
rs761427888
|
0.00001
|
NM_017617.5(NOTCH1):c.5690C>T (p.Thr1897Met)
|
rs746237272
|
0.00001
|
NM_017617.5(NOTCH1):c.5784C>T (p.Gly1928=)
|
rs773571672
|
0.00001
|
NM_017617.5(NOTCH1):c.5804C>T (p.Ala1935Val)
|
rs374787627
|
0.00001
|
NM_017617.5(NOTCH1):c.581C>T (p.Thr194Ile)
|
rs760005580
|
0.00001
|
NM_017617.5(NOTCH1):c.5836C>T (p.Arg1946Cys)
|
rs1440167765
|
0.00001
|
NM_017617.5(NOTCH1):c.6213G>A (p.Glu2071=)
|
rs761295801
|
0.00001
|
NM_017617.5(NOTCH1):c.6293G>A (p.Arg2098His)
|
rs759998676
|
0.00001
|
NM_017617.5(NOTCH1):c.632C>G (p.Thr211Ser)
|
rs1401319182
|
0.00001
|
NM_017617.5(NOTCH1):c.6343G>A (p.Glu2115Lys)
|
rs777219891
|
0.00001
|
NM_017617.5(NOTCH1):c.6392G>A (p.Gly2131Asp)
|
rs1842933513
|
0.00001
|
NM_017617.5(NOTCH1):c.6422C>T (p.Ser2141Leu)
|
rs767822693
|
0.00001
|
NM_017617.5(NOTCH1):c.6593C>T (p.Ser2198Leu)
|
rs761562076
|
0.00001
|
NM_017617.5(NOTCH1):c.6595C>T (p.Pro2199Ser)
|
rs988164569
|
0.00001
|
NM_017617.5(NOTCH1):c.6743A>C (p.Asn2248Thr)
|
rs1554826464
|
0.00001
|
NM_017617.5(NOTCH1):c.6748G>T (p.Ala2250Ser)
|
rs1436539393
|
0.00001
|
NM_017617.5(NOTCH1):c.674C>G (p.Ser225Trp)
|
rs553542677
|
0.00001
|
NM_017617.5(NOTCH1):c.6758C>T (p.Pro2253Leu)
|
rs1204397173
|
0.00001
|
NM_017617.5(NOTCH1):c.6781G>T (p.Gly2261Cys)
|
rs768817065
|
0.00001
|
NM_017617.5(NOTCH1):c.6812C>T (p.Pro2271Leu)
|
rs1223321022
|
0.00001
|
NM_017617.5(NOTCH1):c.6868A>G (p.Ser2290Gly)
|
rs1842924133
|
0.00001
|
NM_017617.5(NOTCH1):c.6895G>A (p.Gly2299Ser)
|
rs1020747496
|
0.00001
|
NM_017617.5(NOTCH1):c.68G>C (p.Arg23Pro)
|
rs869025260
|
0.00001
|
NM_017617.5(NOTCH1):c.7033G>A (p.Gly2345Ser)
|
rs1325758824
|
0.00001
|
NM_017617.5(NOTCH1):c.707C>T (p.Thr236Met)
|
rs537766290
|
0.00001
|
NM_017617.5(NOTCH1):c.7128G>T (p.Gln2376His)
|
rs369935287
|
0.00001
|
NM_017617.5(NOTCH1):c.712G>A (p.Asp238Asn)
|
rs550554578
|
0.00001
|
NM_017617.5(NOTCH1):c.7138G>A (p.Val2380Met)
|
rs769693988
|
0.00001
|
NM_017617.5(NOTCH1):c.7150C>G (p.Gln2384Glu)
|
rs375119074
|
0.00001
|
NM_017617.5(NOTCH1):c.7157A>G (p.Gln2386Arg)
|
rs746658493
|
0.00001
|
NM_017617.5(NOTCH1):c.7172A>T (p.Gln2391Leu)
|
rs1169052272
|
0.00001
|
NM_017617.5(NOTCH1):c.7188C>G (p.Asn2396Lys)
|
rs1842917968
|
0.00001
|
NM_017617.5(NOTCH1):c.7238C>T (p.Pro2413Leu)
|
rs1842916834
|
0.00001
|
NM_017617.5(NOTCH1):c.7273G>A (p.Ala2425Thr)
|
rs1364332299
|
0.00001
|
NM_017617.5(NOTCH1):c.7291C>T (p.Arg2431Trp)
|
rs758410389
|
0.00001
|
NM_017617.5(NOTCH1):c.7417G>A (p.Val2473Ile)
|
rs1358523874
|
0.00001
|
NM_017617.5(NOTCH1):c.7430C>T (p.Thr2477Ile)
|
rs1373474592
|
0.00001
|
NM_017617.5(NOTCH1):c.7472C>A (p.Ser2491Tyr)
|
rs757165853
|
0.00001
|
NM_017617.5(NOTCH1):c.751G>A (p.Gly251Ser)
|
rs755667439
|
0.00001
|
NM_017617.5(NOTCH1):c.7545G>T (p.Glu2515Asp)
|
rs1365732147
|
0.00001
|
NM_017617.5(NOTCH1):c.7568C>T (p.Ser2523Leu)
|
rs1554826328
|
0.00001
|
NM_017617.5(NOTCH1):c.7642G>A (p.Ala2548Thr)
|
rs761156723
|
0.00001
|
NM_017617.5(NOTCH1):c.826G>A (p.Val276Met)
|
rs369721921
|
0.00001
|
NM_017617.5(NOTCH1):c.865+5G>A
|
rs1307085130
|
0.00001
|
NM_017617.5(NOTCH1):c.866-3C>T
|
rs950602055
|
0.00001
|
NM_017617.5(NOTCH1):c.949G>A (p.Gly317Ser)
|
rs749696049
|
0.00001
|
NC_000009.11:g.(?_139390513)_(139440248_?)dup
|
|
|
NC_000009.11:g.(?_139390523)_(139438574_?)dup
|
|
|
NC_000009.11:g.(?_139438456)_(139440238_?)dup
|
|
|
NC_000009.12:g.(?_136496051)_(136523999_?)del
|
|
|
NM_017617.5(NOTCH1):c.1017T>G (p.Cys339Trp)
|
|
|
NM_017617.5(NOTCH1):c.1018G>A (p.Ala340Thr)
|
|
|
NM_017617.5(NOTCH1):c.1027G>A (p.Ala343Thr)
|
rs1843317533
|
|
NM_017617.5(NOTCH1):c.103G>A (p.Gly35Arg)
|
rs1843774247
|
|
NM_017617.5(NOTCH1):c.1067C>T (p.Ser356Phe)
|
rs1843316270
|
|
NM_017617.5(NOTCH1):c.1070T>C (p.Phe357Ser)
|
rs1843316172
|
|
NM_017617.5(NOTCH1):c.1081T>C (p.Cys361Arg)
|
rs1843315932
|
|
NM_017617.5(NOTCH1):c.1093C>T (p.Arg365Cys)
|
rs1064795070
|
|
NM_017617.5(NOTCH1):c.1109G>A (p.Cys370Tyr)
|
rs1564199987
|
|
NM_017617.5(NOTCH1):c.1220C>G (p.Pro407Arg)
|
rs754529382
|
|
NM_017617.5(NOTCH1):c.1242T>G (p.Asp414Glu)
|
rs1843307597
|
|
NM_017617.5(NOTCH1):c.1277C>G (p.Ala426Gly)
|
rs528033027
|
|
NM_017617.5(NOTCH1):c.1295C>G (p.Thr432Arg)
|
rs200562991
|
|
NM_017617.5(NOTCH1):c.1363G>A (p.Glu455Lys)
|
|
|
NM_017617.5(NOTCH1):c.1369G>T (p.Val457Phe)
|
|
|
NM_017617.5(NOTCH1):c.1379C>T (p.Pro460Leu)
|
|
|
NM_017617.5(NOTCH1):c.1385A>G (p.Gln462Arg)
|
|
|
NM_017617.5(NOTCH1):c.142T>A (p.Cys48Ser)
|
|
|
NM_017617.5(NOTCH1):c.1440C>A (p.Pro480=)
|
rs61751555
|
|
NM_017617.5(NOTCH1):c.1441G>C (p.Gly481Arg)
|
rs1448146225
|
|
NM_017617.5(NOTCH1):c.1442-3C>T
|
rs1589067790
|
|
NM_017617.5(NOTCH1):c.1442G>T (p.Gly481Val)
|
rs2133367544
|
|
NM_017617.5(NOTCH1):c.1474G>A (p.Asp492Asn)
|
|
|
NM_017617.5(NOTCH1):c.1477G>A (p.Glu493Lys)
|
rs1554729862
|
|
NM_017617.5(NOTCH1):c.1477G>C (p.Glu493Gln)
|
|
|
NM_017617.5(NOTCH1):c.1483_1484delinsAA (p.Ala495Asn)
|
|
|
NM_017617.5(NOTCH1):c.1487G>C (p.Ser496Thr)
|
rs2133367463
|
|
NM_017617.5(NOTCH1):c.1496G>T (p.Cys499Phe)
|
rs1843292131
|
|
NM_017617.5(NOTCH1):c.1514G>A (p.Cys505Tyr)
|
rs1060502240
|
|
NM_017617.5(NOTCH1):c.1522A>G (p.Lys508Glu)
|
|
|
NM_017617.5(NOTCH1):c.1527C>G (p.Ile509Met)
|
|
|
NM_017617.5(NOTCH1):c.1528A>G (p.Asn510Asp)
|
|
|
NM_017617.5(NOTCH1):c.1539G>C (p.Gln513His)
|
rs747069934
|
|
NM_017617.5(NOTCH1):c.1555+5G>A
|
|
|
NM_017617.5(NOTCH1):c.1555+6G>A
|
|
|
NM_017617.5(NOTCH1):c.1577A>G (p.Gln526Arg)
|
|
|
NM_017617.5(NOTCH1):c.1601G>A (p.Ser534Asn)
|
|
|
NM_017617.5(NOTCH1):c.1618G>C (p.Gly540Arg)
|
|
|
NM_017617.5(NOTCH1):c.1648T>C (p.Tyr550His)
|
|
|
NM_017617.5(NOTCH1):c.1661G>A (p.Cys554Tyr)
|
rs2133365061
|
|
NM_017617.5(NOTCH1):c.1669+3G>A
|
|
|
NM_017617.5(NOTCH1):c.1669+4C>A
|
rs1227337588
|
|
NM_017617.5(NOTCH1):c.1669+4C>T
|
|
|
NM_017617.5(NOTCH1):c.1670-7G>A
|
|
|
NM_017617.5(NOTCH1):c.1679G>A (p.Gly560Glu)
|
|
|
NM_017617.5(NOTCH1):c.1684C>T (p.His562Tyr)
|
|
|
NM_017617.5(NOTCH1):c.1698C>G (p.Asp566Glu)
|
|
|
NM_017617.5(NOTCH1):c.1701C>G (p.Ile567Met)
|
rs773932034
|
|
NM_017617.5(NOTCH1):c.170G>A (p.Cys57Tyr)
|
|
|
NM_017617.5(NOTCH1):c.1711G>A (p.Asp571Asn)
|
rs373125283
|
|
NM_017617.5(NOTCH1):c.1741A>G (p.Lys581Glu)
|
rs778992111
|
|
NM_017617.5(NOTCH1):c.1753G>A (p.Ala585Thr)
|
rs775217381
|
|
NM_017617.5(NOTCH1):c.1756A>G (p.Thr586Ala)
|
rs764854903
|
|
NM_017617.5(NOTCH1):c.1757C>T (p.Thr586Ile)
|
rs1843254040
|
|
NM_017617.5(NOTCH1):c.1760T>C (p.Phe587Ser)
|
rs771440130
|
|
NM_017617.5(NOTCH1):c.1762A>C (p.Thr588Pro)
|
rs747384159
|
|
NM_017617.5(NOTCH1):c.1769T>G (p.Leu590Arg)
|
|
|
NM_017617.5(NOTCH1):c.1792C>T (p.His598Tyr)
|
rs1589066307
|
|
NM_017617.5(NOTCH1):c.1797C>A (p.His599Gln)
|
|
|
NM_017617.5(NOTCH1):c.1799G>T (p.Cys600Phe)
|
rs1843252800
|
|
NM_017617.5(NOTCH1):c.1815C>G (p.Asn605Lys)
|
rs781029850
|
|
NM_017617.5(NOTCH1):c.1861C>G (p.Arg621Gly)
|
rs774622686
|
|
NM_017617.5(NOTCH1):c.1871C>G (p.Ala624Gly)
|
|
|
NM_017617.5(NOTCH1):c.1888C>G (p.Leu630Val)
|
rs2133363294
|
|
NM_017617.5(NOTCH1):c.1892A>G (p.Lys631Arg)
|
|
|
NM_017617.5(NOTCH1):c.1894G>A (p.Gly632Arg)
|
rs2133363267
|
|
NM_017617.5(NOTCH1):c.1896_1897delinsTG (p.Thr633Ala)
|
rs1843250416
|
|
NM_017617.5(NOTCH1):c.1903+15G>A
|
|
|
NM_017617.5(NOTCH1):c.1903+6C>G
|
|
|
NM_017617.5(NOTCH1):c.1904-3C>T
|
rs748118679
|
|
NM_017617.5(NOTCH1):c.1906C>T (p.Pro636Ser)
|
|
|
NM_017617.5(NOTCH1):c.1936G>A (p.Ala646Thr)
|
|
|
NM_017617.5(NOTCH1):c.1945C>T (p.Pro649Ser)
|
|
|
NM_017617.5(NOTCH1):c.1988A>G (p.Glu663Gly)
|
|
|
NM_017617.5(NOTCH1):c.199C>T (p.Pro67Ser)
|
|
|
NM_017617.5(NOTCH1):c.200C>T (p.Pro67Leu)
|
|
|
NM_017617.5(NOTCH1):c.2012C>A (p.Thr671Lys)
|
rs2133362310
|
|
NM_017617.5(NOTCH1):c.2012C>T (p.Thr671Ile)
|
|
|
NM_017617.5(NOTCH1):c.2039A>G (p.Asp680Gly)
|
rs2133361218
|
|
NM_017617.5(NOTCH1):c.2041G>A (p.Glu681Lys)
|
|
|
NM_017617.5(NOTCH1):c.2051G>C (p.Gly684Ala)
|
|
|
NM_017617.5(NOTCH1):c.2053A>T (p.Asn685Tyr)
|
|
|
NM_017617.5(NOTCH1):c.2054A>G (p.Asn685Ser)
|
|
|
NM_017617.5(NOTCH1):c.2066A>G (p.Asn689Ser)
|
|
|
NM_017617.5(NOTCH1):c.2125C>A (p.His709Asn)
|
rs2133360792
|
|
NM_017617.5(NOTCH1):c.2148G>C (p.Glu716Asp)
|
rs376468003
|
|
NM_017617.5(NOTCH1):c.214G>A (p.Gly72Arg)
|
|
|
NM_017617.5(NOTCH1):c.2153A>G (p.Asn718Ser)
|
rs1843232044
|
|
NM_017617.5(NOTCH1):c.2172C>G (p.Pro724=)
|
|
|
NM_017617.5(NOTCH1):c.2185G>A (p.Ala729Thr)
|
rs1400821402
|
|
NM_017617.5(NOTCH1):c.2185G>T (p.Ala729Ser)
|
|
|
NM_017617.5(NOTCH1):c.2186C>T (p.Ala729Val)
|
rs1843231402
|
|
NM_017617.5(NOTCH1):c.2210A>T (p.Tyr737Phe)
|
|
|
NM_017617.5(NOTCH1):c.2220C>A (p.Asp740Glu)
|
|
|
NM_017617.5(NOTCH1):c.2226C>G (p.Asp742Glu)
|
rs201889382
|
|
NM_017617.5(NOTCH1):c.2243C>A (p.Thr748Asn)
|
rs1284149123
|
|
NM_017617.5(NOTCH1):c.2257A>C (p.Asn753His)
|
|
|
NM_017617.5(NOTCH1):c.2280C>A (p.Asn760Lys)
|
|
|
NM_017617.5(NOTCH1):c.2291A>G (p.Asn764Ser)
|
rs1454630791
|
|
NM_017617.5(NOTCH1):c.2293G>A (p.Gly765Ser)
|
rs993388875
|
|
NM_017617.5(NOTCH1):c.2296G>C (p.Gly766Arg)
|
|
|
NM_017617.5(NOTCH1):c.2314A>C (p.Thr772Pro)
|
|
|
NM_017617.5(NOTCH1):c.2315C>A (p.Thr772Asn)
|
|
|
NM_017617.5(NOTCH1):c.2318G>A (p.Ser773Asn)
|
|
|
NM_017617.5(NOTCH1):c.2318G>C (p.Ser773Thr)
|
rs758073507
|
|
NM_017617.5(NOTCH1):c.2326G>T (p.Val776Leu)
|
rs377286829
|
|
NM_017617.5(NOTCH1):c.2326_2328del (p.Val776del)
|
|
|
NM_017617.5(NOTCH1):c.2336G>C (p.Cys779Ser)
|
|
|
NM_017617.5(NOTCH1):c.2351G>C (p.Ser784Thr)
|
|
|
NM_017617.5(NOTCH1):c.236G>A (p.Arg79His)
|
rs768517628
|
|
NM_017617.5(NOTCH1):c.2372A>G (p.Asn791Ser)
|
rs2133358146
|
|
NM_017617.5(NOTCH1):c.2377_2379del (p.Asn793del)
|
rs587778561
|
|
NM_017617.5(NOTCH1):c.2378A>T (p.Asn793Ile)
|
|
|
NM_017617.5(NOTCH1):c.2379C>G (p.Asn793Lys)
|
|
|
NM_017617.5(NOTCH1):c.2405A>G (p.Asn802Ser)
|
rs2133358091
|
|
NM_017617.5(NOTCH1):c.2410G>C (p.Gly804Arg)
|
|
|
NM_017617.5(NOTCH1):c.2416T>A (p.Cys806Ser)
|
rs1805487567
|
|
NM_017617.5(NOTCH1):c.2420T>C (p.Ile807Thr)
|
rs1265223880
|
|
NM_017617.5(NOTCH1):c.2428G>C (p.Val810Leu)
|
rs948647691
|
|
NM_017617.5(NOTCH1):c.242G>T (p.Gly81Val)
|
|
|
NM_017617.5(NOTCH1):c.2435G>C (p.Gly812Ala)
|
rs1843208318
|
|
NM_017617.5(NOTCH1):c.2446A>G (p.Asn816Asp)
|
rs1589064290
|
|
NM_017617.5(NOTCH1):c.244G>T (p.Val82Leu)
|
rs571831870
|
|
NM_017617.5(NOTCH1):c.2452C>G (p.Leu818Val)
|
rs199841979
|
|
NM_017617.5(NOTCH1):c.2466A>G (p.Thr822=)
|
|
|
NM_017617.5(NOTCH1):c.2467+7G>T
|
rs1843207149
|
|
NM_017617.5(NOTCH1):c.2468-5C>A
|
rs932196144
|
|
NM_017617.5(NOTCH1):c.2491G>A (p.Ala831Thr)
|
|
|
NM_017617.5(NOTCH1):c.2501C>G (p.Ala834Gly)
|
rs202144877
|
|
NM_017617.5(NOTCH1):c.2504_2506del (p.Pro835_Ser836delinsArg)
|
|
|
NM_017617.5(NOTCH1):c.2509C>T (p.Pro837Ser)
|
rs1843176956
|
|
NM_017617.5(NOTCH1):c.2520CGG[1] (p.Gly842del)
|
rs754554370
|
|
NM_017617.5(NOTCH1):c.2527G>A (p.Glu843Lys)
|
rs750170645
|
|
NM_017617.5(NOTCH1):c.2540C>G (p.Ser847Cys)
|
|
|
NM_017617.5(NOTCH1):c.254A>G (p.Tyr85Cys)
|
|
|
NM_017617.5(NOTCH1):c.2558T>G (p.Phe853Cys)
|
rs1843175664
|
|
NM_017617.5(NOTCH1):c.2558_2560del (p.Phe853del)
|
rs779164170
|
|
NM_017617.5(NOTCH1):c.256G>T (p.Ala86Ser)
|
rs373941045
|
|
NM_017617.5(NOTCH1):c.2580C>T (p.Gly860=)
|
rs761604720
|
|
NM_017617.5(NOTCH1):c.260G>A (p.Cys87Tyr)
|
|
|
NM_017617.5(NOTCH1):c.2613C>G (p.Asn871Lys)
|
|
|
NM_017617.5(NOTCH1):c.2623C>A (p.Leu875Met)
|
|
|
NM_017617.5(NOTCH1):c.262A>G (p.Ser88Gly)
|
|
|
NM_017617.5(NOTCH1):c.2636G>T (p.Arg879Leu)
|
rs368011392
|
|
NM_017617.5(NOTCH1):c.2655G>C (p.Gln885His)
|
rs2133353313
|
|
NM_017617.5(NOTCH1):c.2666G>T (p.Gly889Val)
|
rs1554728783
|
|
NM_017617.5(NOTCH1):c.2677T>C (p.Cys893Arg)
|
|
|
NM_017617.5(NOTCH1):c.2677T>G (p.Cys893Gly)
|
|
|
NM_017617.5(NOTCH1):c.2689G>A (p.Ala897Thr)
|
rs2133353126
|
|
NM_017617.5(NOTCH1):c.2699G>A (p.Ser900Asn)
|
rs1589062647
|
|
NM_017617.5(NOTCH1):c.269_270delinsTG (p.Ala90Val)
|
rs1554730737
|
|
NM_017617.5(NOTCH1):c.2702G>A (p.Gly901Glu)
|
|
|
NM_017617.5(NOTCH1):c.2705G>A (p.Arg902His)
|
rs373075482
|
|
NM_017617.5(NOTCH1):c.2710T>C (p.Cys904Arg)
|
rs1843166003
|
|
NM_017617.5(NOTCH1):c.2717C>T (p.Thr906Ile)
|
rs2133352988
|
|
NM_017617.5(NOTCH1):c.272T>C (p.Leu91Pro)
|
|
|
NM_017617.5(NOTCH1):c.2741-6T>A
|
rs2133351503
|
|
NM_017617.5(NOTCH1):c.2743C>G (p.Pro915Ala)
|
rs878855024
|
|
NM_017617.5(NOTCH1):c.2759G>A (p.Gly920Asp)
|
|
|
NM_017617.5(NOTCH1):c.2768C>T (p.Thr923Ile)
|
|
|
NM_017617.5(NOTCH1):c.277T>G (p.Phe93Val)
|
|
|
NM_017617.5(NOTCH1):c.2806G>C (p.Gly936Arg)
|
|
|
NM_017617.5(NOTCH1):c.2834A>T (p.Asp945Val)
|
|
|
NM_017617.5(NOTCH1):c.2839_2841del (p.Asn947del)
|
|
|
NM_017617.5(NOTCH1):c.2849C>T (p.Ala950Val)
|
rs777658333
|
|
NM_017617.5(NOTCH1):c.2851A>G (p.Ser951Gly)
|
rs1843150410
|
|
NM_017617.5(NOTCH1):c.2868C>A (p.Asn956Lys)
|
rs760227470
|
|
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.2918C>T (p.Ala973Val)
|
|
|
NM_017617.5(NOTCH1):c.2950A>G (p.Thr984Ala)
|
rs1843147969
|
|
NM_017617.5(NOTCH1):c.2952G>C (p.Thr984=)
|
|
|
NM_017617.5(NOTCH1):c.2963C>T (p.Thr988Ile)
|
rs1843147704
|
|
NM_017617.5(NOTCH1):c.2969+18G>A
|
|
|
NM_017617.5(NOTCH1):c.2969+2TG[3]
|
|
|
NM_017617.5(NOTCH1):c.2969+6C>T
|
|
|
NM_017617.5(NOTCH1):c.299C>T (p.Thr100Ile)
|
|
|
NM_017617.5(NOTCH1):c.3016A>T (p.Thr1006Ser)
|
|
|
NM_017617.5(NOTCH1):c.3045C>T (p.Gly1015=)
|
rs2133348920
|
|
NM_017617.5(NOTCH1):c.305T>G (p.Leu102Arg)
|
rs2133379239
|
|
NM_017617.5(NOTCH1):c.3061G>C (p.Asp1021His)
|
|
|
NM_017617.5(NOTCH1):c.3104C>T (p.Thr1035Ile)
|
rs886039138
|
|
NM_017617.5(NOTCH1):c.3109C>G (p.Gln1037Glu)
|
rs878855025
|
|
NM_017617.5(NOTCH1):c.3110A>G (p.Gln1037Arg)
|
rs1408874772
|
|
NM_017617.5(NOTCH1):c.3112G>A (p.Asp1038Asn)
|
rs2133348754
|
|
NM_017617.5(NOTCH1):c.3118T>C (p.Cys1040Arg)
|
rs1060502235
|
|
NM_017617.5(NOTCH1):c.3137C>A (p.Thr1046Asn)
|
|
|
NM_017617.5(NOTCH1):c.3140G>A (p.Cys1047Tyr)
|
rs1843132240
|
|
NM_017617.5(NOTCH1):c.3143C>A (p.Pro1048His)
|
|
|
NM_017617.5(NOTCH1):c.3155C>T (p.Thr1052Ile)
|
|
|
NM_017617.5(NOTCH1):c.3165C>A (p.Asn1055Lys)
|
rs1431940702
|
|
NM_017617.5(NOTCH1):c.3171+3G>A
|
|
|
NM_017617.5(NOTCH1):c.3171+6del
|
|
|
NM_017617.5(NOTCH1):c.3181C>T (p.His1061Tyr)
|
rs766126767
|
|
NM_017617.5(NOTCH1):c.3221G>A (p.Cys1074Tyr)
|
rs1843122994
|
|
NM_017617.5(NOTCH1):c.3230C>T (p.Thr1077Ile)
|
rs1843122920
|
|
NM_017617.5(NOTCH1):c.3232C>T (p.His1078Tyr)
|
rs1233569898
|
|
NM_017617.5(NOTCH1):c.3236C>T (p.Thr1079Ile)
|
|
|
NM_017617.5(NOTCH1):c.3245G>T (p.Arg1082Leu)
|
rs758471372
|
|
NM_017617.5(NOTCH1):c.3250G>C (p.Glu1084Gln)
|
rs766361207
|
|
NM_017617.5(NOTCH1):c.3257C>G (p.Pro1086Arg)
|
|
|
NM_017617.5(NOTCH1):c.3260G>A (p.Ser1087Asn)
|
|
|
NM_017617.5(NOTCH1):c.3262G>C (p.Gly1088Arg)
|
rs531420022
|
|
NM_017617.5(NOTCH1):c.3263G>A (p.Gly1088Asp)
|
|
|
NM_017617.5(NOTCH1):c.3271G>T (p.Gly1091Cys)
|
|
|
NM_017617.5(NOTCH1):c.3283G>A (p.Asp1095Asn)
|
|
|
NM_017617.5(NOTCH1):c.3295G>A (p.Val1099Met)
|
|
|
NM_017617.5(NOTCH1):c.3295G>T (p.Val1099Leu)
|
|
|
NM_017617.5(NOTCH1):c.3326G>C (p.Gly1109Ala)
|
rs772310059
|
|
NM_017617.5(NOTCH1):c.3344T>C (p.Leu1115Pro)
|
|
|
NM_017617.5(NOTCH1):c.3353A>G (p.His1118Arg)
|
rs1843118145
|
|
NM_017617.5(NOTCH1):c.3356G>T (p.Gly1119Val)
|
|
|
NM_017617.5(NOTCH1):c.335G>A (p.Arg112His)
|
rs768625801
|
|
NM_017617.5(NOTCH1):c.3365G>A (p.Cys1122Tyr)
|
rs1589060802
|
|
NM_017617.5(NOTCH1):c.3370G>A (p.Asp1124Asn)
|
rs1564192948
|
|
NM_017617.5(NOTCH1):c.3395G>A (p.Arg1132His)
|
rs1336014812
|
|
NM_017617.5(NOTCH1):c.3401_3402delinsTT (p.Gln1134Leu)
|
|
|
NM_017617.5(NOTCH1):c.3403G>A (p.Ala1135Thr)
|
rs1554728380
|
|
NM_017617.5(NOTCH1):c.3451C>T (p.Pro1151Ser)
|
|
|
NM_017617.5(NOTCH1):c.3455G>C (p.Ser1152Thr)
|
rs1843116111
|
|
NM_017617.5(NOTCH1):c.3456C>A (p.Ser1152Arg)
|
rs1354855330
|
|
NM_017617.5(NOTCH1):c.3465G>C (p.Gln1155His)
|
|
|
NM_017617.5(NOTCH1):c.3510+17G>A
|
|
|
NM_017617.5(NOTCH1):c.3510+18G>A
|
|
|
NM_017617.5(NOTCH1):c.3510+3G>C
|
rs372739350
|
|
NM_017617.5(NOTCH1):c.3520G>A (p.Gly1174Ser)
|
rs1272399533
|
|
NM_017617.5(NOTCH1):c.3530G>C (p.Gly1177Ala)
|
|
|
NM_017617.5(NOTCH1):c.3537C>G (p.Asn1179Lys)
|
|
|
NM_017617.5(NOTCH1):c.3539G>A (p.Cys1180Tyr)
|
rs1218904003
|
|
NM_017617.5(NOTCH1):c.3541T>C (p.Ser1181Pro)
|
|
|
NM_017617.5(NOTCH1):c.3544GAG[1] (p.Glu1183del)
|
rs1370411882
|
|
NM_017617.5(NOTCH1):c.3550A>T (p.Ile1184Phe)
|
|
|
NM_017617.5(NOTCH1):c.3551T>C (p.Ile1184Thr)
|
|
|
NM_017617.5(NOTCH1):c.3556G>A (p.Glu1186Lys)
|
|
|
NM_017617.5(NOTCH1):c.3579G>T (p.Gln1193His)
|
rs61751544
|
|
NM_017617.5(NOTCH1):c.3596T>C (p.Leu1199Pro)
|
|
|
NM_017617.5(NOTCH1):c.3604C>T (p.Pro1202Ser)
|
rs1554728268
|
|
NM_017617.5(NOTCH1):c.3609C>A (p.Asn1203Lys)
|
rs1843104558
|
|
NM_017617.5(NOTCH1):c.3638C>G (p.Thr1213Ser)
|
rs750536437
|
|
NM_017617.5(NOTCH1):c.3667G>T (p.Asp1223Tyr)
|
|
|
NM_017617.5(NOTCH1):c.3683C>T (p.Pro1228Leu)
|
rs561646185
|
|
NM_017617.5(NOTCH1):c.3689A>C (p.Asp1230Ala)
|
|
|
NM_017617.5(NOTCH1):c.3692C>A (p.Pro1231His)
|
|
|
NM_017617.5(NOTCH1):c.3707C>T (p.Pro1236Leu)
|
|
|
NM_017617.5(NOTCH1):c.3715T>C (p.Phe1239Leu)
|
rs1478449371
|
|
NM_017617.5(NOTCH1):c.3725G>C (p.Gly1242Ala)
|
|
|
NM_017617.5(NOTCH1):c.3728C>T (p.Thr1243Ile)
|
|
|
NM_017617.5(NOTCH1):c.3730T>G (p.Cys1244Gly)
|
|
|
NM_017617.5(NOTCH1):c.3732C>G (p.Cys1244Trp)
|
|
|
NM_017617.5(NOTCH1):c.3747C>T (p.Gly1249=)
|
|
|
NM_017617.5(NOTCH1):c.374A>T (p.Tyr125Phe)
|
rs779240492
|
|
NM_017617.5(NOTCH1):c.376A>G (p.Lys126Glu)
|
rs1589072528
|
|
NM_017617.5(NOTCH1):c.3770C>G (p.Pro1257Arg)
|
|
|
NM_017617.5(NOTCH1):c.3778G>T (p.Val1260Leu)
|
|
|
NM_017617.5(NOTCH1):c.3812G>A (p.Cys1271Tyr)
|
|
|
NM_017617.5(NOTCH1):c.3832G>A (p.Ala1278Thr)
|
rs1406056612
|
|
NM_017617.5(NOTCH1):c.3852C>G (p.Cys1284Trp)
|
rs377289044
|
|
NM_017617.5(NOTCH1):c.3853G>T (p.Val1285Leu)
|
rs756972680
|
|
NM_017617.5(NOTCH1):c.3868G>A (p.Asp1290Asn)
|
|
|
NM_017617.5(NOTCH1):c.3870C>G (p.Asp1290Glu)
|
|
|
NM_017617.5(NOTCH1):c.3880G>A (p.Glu1294Lys)
|
|
|
NM_017617.5(NOTCH1):c.3886C>A (p.Arg1296Ser)
|
rs1056341092
|
|
NM_017617.5(NOTCH1):c.3890C>T (p.Ala1297Val)
|
|
|
NM_017617.5(NOTCH1):c.3900C>G (p.Thr1300=)
|
|
|
NM_017617.5(NOTCH1):c.3901+4G>A
|
|
|
NM_017617.5(NOTCH1):c.3901+5G>A
|
|
|
NM_017617.5(NOTCH1):c.3913G>C (p.Glu1305Gln)
|
|
|
NM_017617.5(NOTCH1):c.3936A>C (p.Lys1312Asn)
|
|
|
NM_017617.5(NOTCH1):c.394G>A (p.Gly132Ser)
|
|
|
NM_017617.5(NOTCH1):c.3970G>T (p.Val1324Leu)
|
rs149057410
|
|
NM_017617.5(NOTCH1):c.3974C>A (p.Ala1325Asp)
|
rs896438598
|
|
NM_017617.5(NOTCH1):c.4001G>A (p.Cys1334Tyr)
|
|
|
NM_017617.5(NOTCH1):c.4014+9A>G
|
rs1843087537
|
|
NM_017617.5(NOTCH1):c.4014G>C (p.Ala1338=)
|
rs377217445
|
|
NM_017617.5(NOTCH1):c.4015-6G>A
|
|
|
NM_017617.5(NOTCH1):c.4016G>C (p.Gly1339Ala)
|
rs1131692021
|
|
NM_017617.5(NOTCH1):c.4025G>A (p.Gly1342Asp)
|
|
|
NM_017617.5(NOTCH1):c.403+3G>A
|
|
|
NM_017617.5(NOTCH1):c.403+3del
|
rs2133378865
|
|
NM_017617.5(NOTCH1):c.4045G>A (p.Ala1349Thr)
|
rs553328686
|
|
NM_017617.5(NOTCH1):c.4049G>C (p.Arg1350Pro)
|
rs150343794
|
|
NM_017617.5(NOTCH1):c.4064T>C (p.Leu1355Pro)
|
rs1589059022
|
|
NM_017617.5(NOTCH1):c.4081G>A (p.Gly1361Ser)
|
|
|
NM_017617.5(NOTCH1):c.4091T>C (p.Ile1364Thr)
|
|
|
NM_017617.5(NOTCH1):c.4112C>T (p.Thr1371Ile)
|
|
|
NM_017617.5(NOTCH1):c.4130C>T (p.Pro1377Leu)
|
rs1843073620
|
|
NM_017617.5(NOTCH1):c.4141C>T (p.Pro1381Ser)
|
rs1589058950
|
|
NM_017617.5(NOTCH1):c.4142C>T (p.Pro1381Leu)
|
rs752551426
|
|
NM_017617.5(NOTCH1):c.4162A>C (p.Ser1388Arg)
|
rs2133340569
|
|
NM_017617.5(NOTCH1):c.4169C>T (p.Pro1390Leu)
|
|
|
NM_017617.5(NOTCH1):c.4181G>A (p.Gly1394Asp)
|
|
|
NM_017617.5(NOTCH1):c.4185C>A (p.Asn1395Lys)
|
|
|
NM_017617.5(NOTCH1):c.4213C>T (p.Pro1405Ser)
|
rs1416597670
|
|
NM_017617.5(NOTCH1):c.4214C>T (p.Pro1405Leu)
|
|
|
NM_017617.5(NOTCH1):c.4228C>T (p.Pro1410Ser)
|
|
|
NM_017617.5(NOTCH1):c.4235A>G (p.Tyr1412Cys)
|
rs2133340251
|
|
NM_017617.5(NOTCH1):c.4237C>T (p.Arg1413Cys)
|
rs1348438354
|
|
NM_017617.5(NOTCH1):c.4241G>C (p.Cys1414Ser)
|
rs1554728005
|
|
NM_017617.5(NOTCH1):c.4282C>G (p.Leu1428Val)
|
rs1363126385
|
|
NM_017617.5(NOTCH1):c.4294T>A (p.Phe1432Ile)
|
rs1843069355
|
|
NM_017617.5(NOTCH1):c.4297G>C (p.Gly1433Arg)
|
rs751904604
|
|
NM_017617.5(NOTCH1):c.4304G>C (p.Gly1435Ala)
|
rs1247192040
|
|
NM_017617.5(NOTCH1):c.4312C>A (p.Arg1438Ser)
|
rs746077264
|
|
NM_017617.5(NOTCH1):c.4327C>A (p.Pro1443Thr)
|
|
|
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.436_450dup (p.Ala150_Asn151insSerAsnProCysAla)
|
|
|
NM_017617.5(NOTCH1):c.4383G>T (p.Lys1461Asn)
|
rs2133339457
|
|
NM_017617.5(NOTCH1):c.4384G>A (p.Val1462Ile)
|
|
|
NM_017617.5(NOTCH1):c.4393C>G (p.Leu1465Val)
|
rs779863069
|
|
NM_017617.5(NOTCH1):c.4411G>A (p.Ala1471Thr)
|
rs1414066424
|
|
NM_017617.5(NOTCH1):c.4411G>T (p.Ala1471Ser)
|
|
|
NM_017617.5(NOTCH1):c.4412C>A (p.Ala1471Glu)
|
|
|
NM_017617.5(NOTCH1):c.4412C>G (p.Ala1471Gly)
|
rs376799353
|
|
NM_017617.5(NOTCH1):c.4444A>G (p.Asn1482Asp)
|
rs1843065776
|
|
NM_017617.5(NOTCH1):c.4449C>G (p.Phe1483Leu)
|
|
|
NM_017617.5(NOTCH1):c.4450A>G (p.Asn1484Asp)
|
|
|
NM_017617.5(NOTCH1):c.4467C>G (p.Asn1489Lys)
|
|
|
NM_017617.5(NOTCH1):c.4468T>G (p.Cys1490Gly)
|
rs1843065225
|
|
NM_017617.5(NOTCH1):c.4481T>G (p.Leu1494Arg)
|
|
|
NM_017617.5(NOTCH1):c.4507G>C (p.Gly1503Arg)
|
rs1243264280
|
|
NM_017617.5(NOTCH1):c.4513T>C (p.Cys1505Arg)
|
rs1843064220
|
|
NM_017617.5(NOTCH1):c.4520G>A (p.Ser1507Asn)
|
|
|
NM_017617.5(NOTCH1):c.4586+6G>T
|
|
|
NM_017617.5(NOTCH1):c.4587-8C>A
|
rs1470543120
|
|
NM_017617.5(NOTCH1):c.4622G>C (p.Ser1541Thr)
|
|
|
NM_017617.5(NOTCH1):c.4627G>A (p.Gly1543Arg)
|
rs533102436
|
|
NM_017617.5(NOTCH1):c.4640A>G (p.Gln1547Arg)
|
rs1055806143
|
|
NM_017617.5(NOTCH1):c.4643G>A (p.Gly1548Asp)
|
|
|
NM_017617.5(NOTCH1):c.4664A>C (p.Glu1555Ala)
|
rs781602537
|
|
NM_017617.5(NOTCH1):c.4675C>A (p.Leu1559Met)
|
|
|
NM_017617.5(NOTCH1):c.4685C>A (p.Ala1562Glu)
|
|
|
NM_017617.5(NOTCH1):c.4699G>A (p.Glu1567Lys)
|
rs1333725995
|
|
NM_017617.5(NOTCH1):c.4740G>A (p.Met1580Ile)
|
rs990474354
|
|
NM_017617.5(NOTCH1):c.4741C>T (p.Pro1581Ser)
|
rs769288225
|
|
NM_017617.5(NOTCH1):c.4761C>G (p.Asn1587Lys)
|
|
|
NM_017617.5(NOTCH1):c.4763G>A (p.Ser1588Asn)
|
rs1843055486
|
|
NM_017617.5(NOTCH1):c.4765T>C (p.Ser1589Pro)
|
rs1490218456
|
|
NM_017617.5(NOTCH1):c.4773C>G (p.His1591Gln)
|
|
|
NM_017617.5(NOTCH1):c.4776C>A (p.Phe1592Leu)
|
rs752861485
|
|
NM_017617.5(NOTCH1):c.4778T>C (p.Leu1593Pro)
|
|
|
NM_017617.5(NOTCH1):c.4790G>T (p.Ser1597Ile)
|
rs1564190486
|
|
NM_017617.5(NOTCH1):c.4802A>G (p.His1601Arg)
|
rs2133336705
|
|
NM_017617.5(NOTCH1):c.4815_4816insCCCCCC (p.Val1605_Phe1606insProPro)
|
|
|
NM_017617.5(NOTCH1):c.4820A>G (p.Lys1607Arg)
|
|
|
NM_017617.5(NOTCH1):c.4829C>T (p.Ala1610Val)
|
rs1554727837
|
|
NM_017617.5(NOTCH1):c.4834G>A (p.Gly1612Ser)
|
rs1166328821
|
|
NM_017617.5(NOTCH1):c.4853C>A (p.Pro1618His)
|
|
|
NM_017617.5(NOTCH1):c.4855TAC[1] (p.Tyr1620del)
|
|
|
NM_017617.5(NOTCH1):c.485A>G (p.Tyr162Cys)
|
|
|
NM_017617.5(NOTCH1):c.4870G>C (p.Glu1624Gln)
|
rs1843052920
|
|
NM_017617.5(NOTCH1):c.4908G>T (p.Glu1636Asp)
|
rs1275439825
|
|
NM_017617.5(NOTCH1):c.4915G>A (p.Ala1639Thr)
|
rs878855026
|
|
NM_017617.5(NOTCH1):c.4927G>C (p.Ala1643Pro)
|
|
|
NM_017617.5(NOTCH1):c.4931T>C (p.Leu1644Pro)
|
|
|
NM_017617.5(NOTCH1):c.4941G>A (p.Gln1647=)
|
rs1589058142
|
|
NM_017617.5(NOTCH1):c.4953GCT[1] (p.Leu1653del)
|
|
|
NM_017617.5(NOTCH1):c.4961C>A (p.Pro1654His)
|
rs1381525257
|
|
NM_017617.5(NOTCH1):c.4969A>T (p.Ser1657Cys)
|
|
|
NM_017617.5(NOTCH1):c.4971C>G (p.Ser1657Arg)
|
rs367838230
|
|
NM_017617.5(NOTCH1):c.4985G>A (p.Arg1662Gln)
|
rs774808496
|
|
NM_017617.5(NOTCH1):c.4987C>T (p.Arg1663Trp)
|
|
|
NM_017617.5(NOTCH1):c.4988G>T (p.Arg1663Leu)
|
|
|
NM_017617.5(NOTCH1):c.5006T>C (p.Met1669Thr)
|
|
|
NM_017617.5(NOTCH1):c.5007G>A (p.Met1669Ile)
|
|
|
NM_017617.5(NOTCH1):c.5018+5G>A
|
|
|
NM_017617.5(NOTCH1):c.5018+6_5018+9del
|
|
|
NM_017617.5(NOTCH1):c.5019-3C>T
|
|
|
NM_017617.5(NOTCH1):c.5026G>A (p.Val1676Ile)
|
rs1261408162
|
|
NM_017617.5(NOTCH1):c.5057T>G (p.Val1686Gly)
|
|
|
NM_017617.5(NOTCH1):c.5101G>A (p.Ala1701Thr)
|
rs1443819558
|
|
NM_017617.5(NOTCH1):c.5128G>C (p.Gly1710Arg)
|
|
|
NM_017617.5(NOTCH1):c.5137A>G (p.Asn1713Asp)
|
|
|
NM_017617.5(NOTCH1):c.5138A>C (p.Asn1713Thr)
|
rs200053816
|
|
NM_017617.5(NOTCH1):c.5140A>G (p.Ile1714Val)
|
rs2133333190
|
|
NM_017617.5(NOTCH1):c.5155G>A (p.Glu1719Lys)
|
rs750085425
|
|
NM_017617.5(NOTCH1):c.5161G>A (p.Val1721Met)
|
|
|
NM_017617.5(NOTCH1):c.5167+3A>G
|
rs1025172473
|
|
NM_017617.5(NOTCH1):c.5168G>A (p.Ser1723Asn)
|
|
|
NM_017617.5(NOTCH1):c.5176G>A (p.Val1726Met)
|
|
|
NM_017617.5(NOTCH1):c.5181G>T (p.Glu1727Asp)
|
rs1843014055
|
|
NM_017617.5(NOTCH1):c.5191C>A (p.Pro1731Thr)
|
|
|
NM_017617.5(NOTCH1):c.520A>C (p.Thr174Pro)
|
rs771225163
|
|
NM_017617.5(NOTCH1):c.5211G>T (p.Met1737Ile)
|
|
|
NM_017617.5(NOTCH1):c.5218G>T (p.Ala1740Ser)
|
rs864622062
|
|
NM_017617.5(NOTCH1):c.523T>G (p.Cys175Gly)
|
|
|
NM_017617.5(NOTCH1):c.5256C>G (p.Cys1752Trp)
|
|
|
NM_017617.5(NOTCH1):c.5270C>T (p.Ser1757Phe)
|
rs1843012177
|
|
NM_017617.5(NOTCH1):c.5272C>G (p.Arg1758Gly)
|
rs777859108
|
|
NM_017617.5(NOTCH1):c.527_528delinsTT (p.Arg176Leu)
|
rs1564203258
|
|
NM_017617.5(NOTCH1):c.5285G>A (p.Arg1762Gln)
|
rs942439472
|
|
NM_017617.5(NOTCH1):c.5296C>A (p.Gln1766Lys)
|
rs1843011278
|
|
NM_017617.5(NOTCH1):c.5297A>G (p.Gln1766Arg)
|
|
|
NM_017617.5(NOTCH1):c.5299C>G (p.Leu1767Val)
|
|
|
NM_017617.5(NOTCH1):c.5326T>G (p.Ser1776Ala)
|
|
|
NM_017617.5(NOTCH1):c.5332G>C (p.Ala1778Pro)
|
rs986394043
|
|
NM_017617.5(NOTCH1):c.5333C>G (p.Ala1778Gly)
|
rs1422917398
|
|
NM_017617.5(NOTCH1):c.5350C>G (p.Arg1784Gly)
|
rs1843010487
|
|
NM_017617.5(NOTCH1):c.5356C>T (p.Pro1786Ser)
|
rs1843010413
|
|
NM_017617.5(NOTCH1):c.5362G>A (p.Gly1788Ser)
|
rs1843010334
|
|
NM_017617.5(NOTCH1):c.5384+3G>C
|
rs1843010026
|
|
NM_017617.5(NOTCH1):c.5385-2dup
|
|
|
NM_017617.5(NOTCH1):c.5385-3C>T
|
|
|
NM_017617.5(NOTCH1):c.5386C>T (p.Pro1796Ser)
|
|
|
NM_017617.5(NOTCH1):c.538A>G (p.Asn180Asp)
|
|
|
NM_017617.5(NOTCH1):c.5418G>A (p.Met1806Ile)
|
rs556708225
|
|
NM_017617.5(NOTCH1):c.5423A>G (p.Asp1808Gly)
|
rs1589056398
|
|
NM_017617.5(NOTCH1):c.5434G>A (p.Glu1812Lys)
|
rs1843005451
|
|
NM_017617.5(NOTCH1):c.5438G>T (p.Trp1813Leu)
|
rs755659037
|
|
NM_017617.5(NOTCH1):c.5447A>G (p.Glu1816Gly)
|
rs2133329831
|
|
NM_017617.5(NOTCH1):c.5455G>C (p.Glu1819Gln)
|
rs2133329789
|
|
NM_017617.5(NOTCH1):c.5462A>G (p.Lys1821Arg)
|
|
|
NM_017617.5(NOTCH1):c.5470C>T (p.Arg1824Trp)
|
|
|
NM_017617.5(NOTCH1):c.5471G>T (p.Arg1824Leu)
|
|
|
NM_017617.5(NOTCH1):c.5476G>A (p.Glu1826Lys)
|
rs374103443
|
|
NM_017617.5(NOTCH1):c.5479G>A (p.Glu1827Lys)
|
|
|
NM_017617.5(NOTCH1):c.547G>C (p.Gly183Arg)
|
rs1843399830
|
|
NM_017617.5(NOTCH1):c.5500C>G (p.Leu1834Val)
|
rs73668312
|
|
NM_017617.5(NOTCH1):c.5508C>A (p.Asp1836Glu)
|
|
|
NM_017617.5(NOTCH1):c.5519A>G (p.His1840Arg)
|
|
|
NM_017617.5(NOTCH1):c.5535_5536delinsAA (p.Gln1846Lys)
|
rs878855027
|
|
NM_017617.5(NOTCH1):c.5540A>C (p.His1847Pro)
|
rs1843001736
|
|
NM_017617.5(NOTCH1):c.5563A>C (p.Met1855Leu)
|
|
|
NM_017617.5(NOTCH1):c.5567C>A (p.Ser1856Tyr)
|
|
|
NM_017617.5(NOTCH1):c.556C>T (p.Pro186Ser)
|
|
|
NM_017617.5(NOTCH1):c.5570C>G (p.Ala1857Gly)
|
rs1370862526
|
|
NM_017617.5(NOTCH1):c.557C>T (p.Pro186Leu)
|
rs2133377659
|
|
NM_017617.5(NOTCH1):c.5591A>G (p.Gln1864Arg)
|
|
|
NM_017617.5(NOTCH1):c.5594G>A (p.Gly1865Asp)
|
rs2133328665
|
|
NM_017617.5(NOTCH1):c.5599G>T (p.Val1867Phe)
|
|
|
NM_017617.5(NOTCH1):c.5603A>T (p.Asp1868Val)
|
|
|
NM_017617.5(NOTCH1):c.5612G>T (p.Cys1871Phe)
|
|
|
NM_017617.5(NOTCH1):c.5630G>A (p.Arg1877His)
|
|
|
NM_017617.5(NOTCH1):c.5651C>T (p.Pro1884Leu)
|
rs545259523
|
|
NM_017617.5(NOTCH1):c.5671A>G (p.Ser1891Gly)
|
rs2133326726
|
|
NM_017617.5(NOTCH1):c.5678G>T (p.Gly1893Val)
|
rs1292487339
|
|
NM_017617.5(NOTCH1):c.5697C>A (p.Asn1899Lys)
|
rs747229390
|
|
NM_017617.5(NOTCH1):c.5698A>G (p.Ser1900Gly)
|
rs200190466
|
|
NM_017617.5(NOTCH1):c.5712G>T (p.Glu1904Asp)
|
|
|
NM_017617.5(NOTCH1):c.5731T>C (p.Ser1911Pro)
|
rs2133326413
|
|
NM_017617.5(NOTCH1):c.5739C>T (p.Phe1913=)
|
|
|
NM_017617.5(NOTCH1):c.5763C>G (p.His1921Gln)
|
|
|
NM_017617.5(NOTCH1):c.5766C>A (p.Asn1922Lys)
|
|
|
NM_017617.5(NOTCH1):c.5768A>G (p.Gln1923Arg)
|
rs1842981791
|
|
NM_017617.5(NOTCH1):c.5780C>T (p.Thr1927Met)
|
rs1554826860
|
|
NM_017617.5(NOTCH1):c.578G>T (p.Gly193Val)
|
rs774966208
|
|
NM_017617.5(NOTCH1):c.5795T>C (p.Leu1932Ser)
|
rs1842981231
|
|
NM_017617.5(NOTCH1):c.5806G>T (p.Ala1936Ser)
|
|
|
NM_017617.5(NOTCH1):c.5819G>A (p.Arg1940His)
|
rs897872809
|
|
NM_017617.5(NOTCH1):c.5829C>A (p.Ala1943=)
|
rs1036442909
|
|
NM_017617.5(NOTCH1):c.5836C>G (p.Arg1946Gly)
|
|
|
NM_017617.5(NOTCH1):c.5888C>A (p.Thr1963Asn)
|
|
|
NM_017617.5(NOTCH1):c.5899G>A (p.Ala1967Thr)
|
|
|
NM_017617.5(NOTCH1):c.5905G>A (p.Val1969Met)
|
rs1842979490
|
|
NM_017617.5(NOTCH1):c.5920C>A (p.Gln1974Lys)
|
|
|
NM_017617.5(NOTCH1):c.5934+6C>T
|
|
|
NM_017617.5(NOTCH1):c.607C>T (p.Arg203Cys)
|
|
|
NM_017617.5(NOTCH1):c.6197T>G (p.Phe2066Cys)
|
|
|
NM_017617.5(NOTCH1):c.619C>T (p.Arg207Cys)
|
|
|
NM_017617.5(NOTCH1):c.62-3T>C
|
rs2133406300
|
|
NM_017617.5(NOTCH1):c.620G>A (p.Arg207His)
|
rs779118023
|
|
NM_017617.5(NOTCH1):c.6219C>G (p.Ser2073Arg)
|
|
|
NM_017617.5(NOTCH1):c.6232A>G (p.Lys2078Glu)
|
rs1186927156
|
|
NM_017617.5(NOTCH1):c.6254C>G (p.Ala2085Gly)
|
rs1215496202
|
|
NM_017617.5(NOTCH1):c.6256A>T (p.Asn2086Tyr)
|
|
|
NM_017617.5(NOTCH1):c.6269C>T (p.Thr2090Met)
|
rs1215473021
|
|
NM_017617.5(NOTCH1):c.6275A>C (p.His2092Pro)
|
rs1554826539
|
|
NM_017617.5(NOTCH1):c.6284G>T (p.Arg2095Leu)
|
rs756874994
|
|
NM_017617.5(NOTCH1):c.6310C>T (p.Arg2104Cys)
|
rs1307220376
|
|
NM_017617.5(NOTCH1):c.6311G>A (p.Arg2104His)
|
rs1842934984
|
|
NM_017617.5(NOTCH1):c.6342C>G (p.Asp2114Glu)
|
rs746682300
|
|
NM_017617.5(NOTCH1):c.6365C>G (p.Pro2122Arg)
|
|
|
NM_017617.5(NOTCH1):c.6373C>T (p.His2125Tyr)
|
rs2133318919
|
|
NM_017617.5(NOTCH1):c.637C>T (p.Pro213Ser)
|
|
|
NM_017617.5(NOTCH1):c.6392del (p.Gly2131fs)
|
|
|
NM_017617.5(NOTCH1):c.6393C>T (p.Gly2131=)
|
rs1390112624
|
|
NM_017617.5(NOTCH1):c.6397C>A (p.Pro2133Thr)
|
rs61733294
|
|
NM_017617.5(NOTCH1):c.6413dup (p.Leu2139fs)
|
rs1842932983
|
|
NM_017617.5(NOTCH1):c.6424C>T (p.Pro2142Ser)
|
|
|
NM_017617.5(NOTCH1):c.6428A>G (p.Asn2143Ser)
|
rs1085307778
|
|
NM_017617.5(NOTCH1):c.6451C>T (p.Pro2151Ser)
|
rs1842932370
|
|
NM_017617.5(NOTCH1):c.6463G>A (p.Gly2155Ser)
|
rs1035043614
|
|
NM_017617.5(NOTCH1):c.646G>A (p.Glu216Lys)
|
|
|
NM_017617.5(NOTCH1):c.6470A>C (p.Lys2157Thr)
|
rs1564568574
|
|
NM_017617.5(NOTCH1):c.6489C>G (p.Ser2163Arg)
|
|
|
NM_017617.5(NOTCH1):c.6500C>A (p.Ala2167Asp)
|
|
|
NM_017617.5(NOTCH1):c.6503G>C (p.Cys2168Ser)
|
|
|
NM_017617.5(NOTCH1):c.6512A>G (p.Lys2171Arg)
|
|
|
NM_017617.5(NOTCH1):c.6517G>A (p.Ala2173Thr)
|
rs1060502234
|
|
NM_017617.5(NOTCH1):c.6551A>G (p.Gln2184Arg)
|
rs2133318027
|
|
NM_017617.5(NOTCH1):c.6552G>T (p.Gln2184His)
|
|
|
NM_017617.5(NOTCH1):c.6585C>T (p.Gly2195=)
|
rs1842929880
|
|
NM_017617.5(NOTCH1):c.6593C>G (p.Ser2198Trp)
|
|
|
NM_017617.5(NOTCH1):c.6598G>A (p.Val2200Met)
|
|
|
NM_017617.5(NOTCH1):c.65C>G (p.Pro22Arg)
|
|
|
NM_017617.5(NOTCH1):c.6620A>G (p.His2207Arg)
|
|
|
NM_017617.5(NOTCH1):c.6647C>G (p.Pro2216Arg)
|
|
|
NM_017617.5(NOTCH1):c.6668T>C (p.Phe2223Ser)
|
rs1842928462
|
|
NM_017617.5(NOTCH1):c.6706G>A (p.Gly2236Arg)
|
|
|
NM_017617.5(NOTCH1):c.670C>G (p.Pro224Ala)
|
|
|
NM_017617.5(NOTCH1):c.6712C>T (p.Pro2238Ser)
|
|
|
NM_017617.5(NOTCH1):c.6724C>G (p.Leu2242Val)
|
|
|
NM_017617.5(NOTCH1):c.6738C>G (p.His2246Gln)
|
rs1842927243
|
|
NM_017617.5(NOTCH1):c.6739C>G (p.Leu2247Val)
|
rs377165086
|
|
NM_017617.5(NOTCH1):c.6740T>C (p.Leu2247Pro)
|
|
|
NM_017617.5(NOTCH1):c.6744C>G (p.Asn2248Lys)
|
rs372771288
|
|
NM_017617.5(NOTCH1):c.6748G>A (p.Ala2250Thr)
|
rs1436539393
|
|
NM_017617.5(NOTCH1):c.6767C>T (p.Ala2256Val)
|
rs759225800
|
|
NM_017617.5(NOTCH1):c.6776G>T (p.Gly2259Val)
|
|
|
NM_017617.5(NOTCH1):c.677C>T (p.Pro226Leu)
|
rs1843395886
|
|
NM_017617.5(NOTCH1):c.6791T>A (p.Leu2264Gln)
|
rs2133317177
|
|
NM_017617.5(NOTCH1):c.6793G>C (p.Ala2265Pro)
|
|
|
NM_017617.5(NOTCH1):c.6810_6812del (p.Pro2271del)
|
|
|
NM_017617.5(NOTCH1):c.6851C>T (p.Thr2284Ile)
|
rs1341934554
|
|
NM_017617.5(NOTCH1):c.6857T>A (p.Leu2286Gln)
|
|
|
NM_017617.5(NOTCH1):c.6869G>A (p.Ser2290Asn)
|
rs763183789
|
|
NM_017617.5(NOTCH1):c.6869G>T (p.Ser2290Ile)
|
rs763183789
|
|
NM_017617.5(NOTCH1):c.6880C>G (p.Leu2294Val)
|
|
|
NM_017617.5(NOTCH1):c.6905C>T (p.Thr2302Ile)
|
|
|
NM_017617.5(NOTCH1):c.6923G>T (p.Cys2308Phe)
|
|
|
NM_017617.5(NOTCH1):c.6924C>G (p.Cys2308Trp)
|
rs756653663
|
|
NM_017617.5(NOTCH1):c.6944A>C (p.Gln2315Pro)
|
|
|
NM_017617.5(NOTCH1):c.6947G>A (p.Ser2316Asn)
|
|
|
NM_017617.5(NOTCH1):c.6950G>C (p.Gly2317Ala)
|
|
|
NM_017617.5(NOTCH1):c.6980G>C (p.Arg2327Pro)
|
|
|
NM_017617.5(NOTCH1):c.6986G>C (p.Ser2329Thr)
|
|
|
NM_017617.5(NOTCH1):c.7001C>G (p.Pro2334Arg)
|
|
|
NM_017617.5(NOTCH1):c.7010C>T (p.Thr2337Ile)
|
|
|
NM_017617.5(NOTCH1):c.7029G>C (p.Gln2343His)
|
|
|
NM_017617.5(NOTCH1):c.7036A>G (p.Met2346Val)
|
|
|
NM_017617.5(NOTCH1):c.7039_7047del (p.Val2347_Pro2349del)
|
|
|
NM_017617.5(NOTCH1):c.7042G>A (p.Gly2348Ser)
|
|
|
NM_017617.5(NOTCH1):c.7069A>T (p.Ser2357Cys)
|
|
|
NM_017617.5(NOTCH1):c.7072G>A (p.Ala2358Thr)
|
rs780869345
|
|
NM_017617.5(NOTCH1):c.7110C>A (p.Ser2370Arg)
|
|
|
NM_017617.5(NOTCH1):c.7121C>T (p.Ala2374Val)
|
rs2133316248
|
|
NM_017617.5(NOTCH1):c.7138G>C (p.Val2380Leu)
|
rs769693988
|
|
NM_017617.5(NOTCH1):c.7145C>T (p.Thr2382Ile)
|
rs1564567924
|
|
NM_017617.5(NOTCH1):c.7147C>T (p.Gln2383Ter)
|
rs759362012
|
|
NM_017617.5(NOTCH1):c.715G>A (p.Val239Ile)
|
|
|
NM_017617.5(NOTCH1):c.7175T>A (p.Met2392Lys)
|
rs1036612594
|
|
NM_017617.5(NOTCH1):c.7175T>C (p.Met2392Thr)
|
rs1036612594
|
|
NM_017617.5(NOTCH1):c.7177C>G (p.Gln2393Glu)
|
|
|
NM_017617.5(NOTCH1):c.7178A>G (p.Gln2393Arg)
|
rs1842918022
|
|
NM_017617.5(NOTCH1):c.7193A>G (p.Gln2398Arg)
|
rs1564567879
|
|
NM_017617.5(NOTCH1):c.7198G>A (p.Ala2400Thr)
|
rs1842917839
|
|
NM_017617.5(NOTCH1):c.7209G>C (p.Gln2403His)
|
rs61751486
|
|
NM_017617.5(NOTCH1):c.7222C>G (p.Leu2408Val)
|
|
|
NM_017617.5(NOTCH1):c.7232CAC[6] (p.Pro2415dup)
|
rs762336270
|
|
NM_017617.5(NOTCH1):c.7232CAC[7] (p.Pro2414_Pro2415dup)
|
rs762336270
|
|
NM_017617.5(NOTCH1):c.7235C>G (p.Pro2412Arg)
|
rs1842916921
|
|
NM_017617.5(NOTCH1):c.7261G>T (p.Val2421Leu)
|
|
|
NM_017617.5(NOTCH1):c.7279G>C (p.Gly2427Arg)
|
|
|
NM_017617.5(NOTCH1):c.7311G>T (p.Glu2437Asp)
|
rs886039031
|
|
NM_017617.5(NOTCH1):c.7327G>T (p.Val2443Leu)
|
rs768311067
|
|
NM_017617.5(NOTCH1):c.7402C>A (p.Leu2468Met)
|
rs2133315021
|
|
NM_017617.5(NOTCH1):c.7405C>T (p.Pro2469Ser)
|
|
|
NM_017617.5(NOTCH1):c.7417del (p.Val2473fs)
|
rs2133314943
|
|
NM_017617.5(NOTCH1):c.7426G>A (p.Val2476Met)
|
rs763785541
|
|
NM_017617.5(NOTCH1):c.7463A>G (p.His2488Arg)
|
|
|
NM_017617.5(NOTCH1):c.748A>T (p.Thr250Ser)
|
rs551150550
|
|
NM_017617.5(NOTCH1):c.7507C>T (p.Gln2503Ter)
|
|
|
NM_017617.5(NOTCH1):c.7510G>A (p.Val2504Met)
|
rs2133314443
|
|
NM_017617.5(NOTCH1):c.7529T>C (p.Leu2510Pro)
|
rs1554826340
|
|
NM_017617.5(NOTCH1):c.752G>T (p.Gly251Val)
|
rs749943647
|
|
NM_017617.5(NOTCH1):c.7532C>A (p.Thr2511Asn)
|
|
|
NM_017617.5(NOTCH1):c.753C>T (p.Gly251=)
|
|
|
NM_017617.5(NOTCH1):c.7549C>T (p.Pro2517Ser)
|
|
|
NM_017617.5(NOTCH1):c.760T>C (p.Cys254Arg)
|
|
|
NM_017617.5(NOTCH1):c.7622C>T (p.Thr2541Ile)
|
|
|
NM_017617.5(NOTCH1):c.7657G>A (p.Ala2553Thr)
|
rs182522714
|
|
NM_017617.5(NOTCH1):c.7658C>T (p.Ala2553Val)
|
rs2133313653
|
|
NM_017617.5(NOTCH1):c.769A>G (p.Asn257Asp)
|
|
|
NM_017617.5(NOTCH1):c.781T>C (p.Cys261Arg)
|
rs2133372814
|
|
NM_017617.5(NOTCH1):c.788G>T (p.Gly263Val)
|
|
|
NM_017617.5(NOTCH1):c.804C>A (p.Asn268Lys)
|
|
|
NM_017617.5(NOTCH1):c.824G>C (p.Gly275Ala)
|
|
|
NM_017617.5(NOTCH1):c.829A>G (p.Asn277Asp)
|
|
|
NM_017617.5(NOTCH1):c.830A>G (p.Asn277Ser)
|
|
|
NM_017617.5(NOTCH1):c.865+11G>A
|
|
|
NM_017617.5(NOTCH1):c.865+2C>T
|
rs1164392989
|
|
NM_017617.5(NOTCH1):c.865+4C>T
|
rs527248111
|
|
NM_017617.5(NOTCH1):c.866G>C (p.Gly289Ala)
|
|
|
NM_017617.5(NOTCH1):c.892G>C (p.Glu298Gln)
|
rs1060502232
|
|
NM_017617.5(NOTCH1):c.900G>C (p.Gln300His)
|
|
|
NM_017617.5(NOTCH1):c.902T>C (p.Leu301Pro)
|
|
|
NM_017617.5(NOTCH1):c.924C>G (p.Asn308Lys)
|
|
|
NM_017617.5(NOTCH1):c.961T>C (p.Cys321Arg)
|
rs1843318767
|
|
NM_017617.5(NOTCH1):c.98A>G (p.Asn33Ser)
|
rs2133406228
|
|