NM_000376.3(VDR):c.1025-49G>T
|
rs7975232
|
0.55284
|
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe)
|
rs77724903
|
0.00178
|
NM_000157.4(GBA1):c.1200G>A (p.Met400Ile)
|
rs149487315
|
0.00091
|
NM_000135.4(FANCA):c.3524C>T (p.Pro1175Leu)
|
rs147017625
|
0.00083
|
NM_000249.4(MLH1):c.1151T>A (p.Val384Asp)
|
rs63750447
|
0.00077
|
NM_001846.4(COL4A2):c.4987G>A (p.Gly1663Ser)
|
rs12877501
|
0.00043
|
NM_001048174.2(MUTYH):c.850-2A>G
|
rs77542170
|
0.00035
|
NM_000400.4(ERCC2):c.545C>T (p.Ala182Val)
|
rs142936491
|
0.00029
|
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)
|
rs121434629
|
0.00018
|
NM_000537.4(REN):c.1216C>T (p.Arg406Cys)
|
rs547414447
|
0.00018
|
NM_000142.5(FGFR3):c.158G>C (p.Ser53Thr)
|
rs201433984
|
0.00014
|
NM_021922.3(FANCE):c.598C>T (p.Arg200Cys)
|
rs763151358
|
0.00007
|
NM_000059.4(BRCA2):c.1096T>G (p.Leu366Val)
|
rs587779357
|
0.00006
|
NM_000143.4(FH):c.1127A>C (p.Gln376Pro)
|
rs200796606
|
0.00005
|
NM_001360.3(DHCR7):c.583G>A (p.Ala195Thr)
|
rs151170252
|
0.00004
|
NM_004360.5(CDH1):c.2494G>A (p.Val832Met)
|
rs35572355
|
0.00004
|
NM_000094.4(COL7A1):c.1370C>T (p.Pro457Leu)
|
rs200396882
|
0.00003
|
NM_000465.4(BARD1):c.1247T>G (p.Leu416Arg)
|
rs878853996
|
0.00003
|
NM_020975.6(RET):c.1998G>T (p.Lys666Asn)
|
rs146646971
|
0.00003
|
NM_000546.6(TP53):c.743G>A (p.Arg248Gln)
|
rs11540652
|
0.00002
|
NM_001048174.2(MUTYH):c.655C>T (p.Arg219Ter)
|
rs587782885
|
0.00002
|
NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys)
|
rs139770721
|
0.00001
|
NM_000059.4(BRCA2):c.7759C>T (p.Leu2587Phe)
|
rs56335340
|
0.00001
|
NM_000179.3(MSH6):c.2504del (p.Gln835fs)
|
rs1572727440
|
0.00001
|
NM_000245.4(MET):c.3281A>G (p.His1094Arg)
|
rs121913243
|
0.00001
|
NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp)
|
rs63751275
|
0.00001
|
NM_000516.7(GNAS):c.601C>T (p.Arg201Cys)
|
rs11554273
|
0.00001
|
NM_000516.7(GNAS):c.602G>A (p.Arg201His)
|
rs121913495
|
0.00001
|
NM_000535.7(PMS2):c.614A>C (p.Gln205Pro)
|
rs587779342
|
0.00001
|
NM_000545.8(HNF1A):c.1556C>T (p.Pro519Leu)
|
rs749673816
|
0.00001
|
NM_000546.6(TP53):c.374C>T (p.Thr125Met)
|
rs786201057
|
0.00001
|
NM_000546.6(TP53):c.395A>G (p.Lys132Arg)
|
rs1057519996
|
0.00001
|
NM_000546.6(TP53):c.488A>G (p.Tyr163Cys)
|
rs148924904
|
0.00001
|
NM_000546.6(TP53):c.523C>T (p.Arg175Cys)
|
rs138729528
|
0.00001
|
NM_000546.6(TP53):c.535C>T (p.His179Tyr)
|
rs587780070
|
0.00001
|
NM_000546.6(TP53):c.536A>G (p.His179Arg)
|
rs1057519991
|
0.00001
|
NM_000546.6(TP53):c.542G>A (p.Arg181His)
|
rs397514495
|
0.00001
|
NM_000546.6(TP53):c.578A>C (p.His193Pro)
|
rs786201838
|
0.00001
|
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys)
|
rs121912666
|
0.00001
|
NM_000546.6(TP53):c.711G>A (p.Met237Ile)
|
rs587782664
|
0.00001
|
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr)
|
rs730882005
|
0.00001
|
NM_000546.6(TP53):c.716A>C (p.Asn239Thr)
|
rs1057519999
|
0.00001
|
NM_000546.6(TP53):c.725G>A (p.Cys242Tyr)
|
rs121912655
|
0.00001
|
NM_000546.6(TP53):c.733G>A (p.Gly245Ser)
|
rs28934575
|
0.00001
|
NM_000546.6(TP53):c.817C>T (p.Arg273Cys)
|
rs121913343
|
0.00001
|
NM_000546.6(TP53):c.824G>A (p.Cys275Tyr)
|
rs863224451
|
0.00001
|
NM_000546.6(TP53):c.841G>A (p.Asp281Asn)
|
rs764146326
|
0.00001
|
NM_000546.6(TP53):c.844C>T (p.Arg282Trp)
|
rs28934574
|
0.00001
|
NM_000551.4(VHL):c.499C>T (p.Arg167Trp)
|
rs5030820
|
0.00001
|
NM_001372078.1(REV3L):c.559A>T (p.Arg187Trp)
|
rs1057519367
|
0.00001
|
NM_002524.5(NRAS):c.35G>A (p.Gly12Asp)
|
rs121913237
|
0.00001
|
NM_002880.4(RAF1):c.770C>G (p.Ser257Trp)
|
rs80338796
|
0.00001
|
NM_004260.4(RECQL4):c.1096G>C (p.Gly366Arg)
|
rs763114749
|
0.00001
|
NM_004360.5(CDH1):c.1566-1G>C
|
rs113583899
|
0.00001
|
NM_004360.5(CDH1):c.2164+2T>C
|
rs876661120
|
0.00001
|
NM_004360.5(CDH1):c.2194C>T (p.Arg732Trp)
|
rs864622198
|
0.00001
|
NM_004448.4(ERBB2):c.2570A>G (p.Asn857Ser)
|
rs28933370
|
0.00001
|
NM_005896.4(IDH1):c.394C>T (p.Arg132Cys)
|
rs121913499
|
0.00001
|
NM_005896.4(IDH1):c.395G>A (p.Arg132His)
|
rs121913500
|
0.00001
|
NM_006758.3(U2AF1):c.101C>A (p.Ser34Tyr)
|
rs371769427
|
0.00001
|
NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys)
|
rs540635787
|
0.00001
|
NM_012433.4(SF3B1):c.1873C>G (p.Arg625Gly)
|
rs775623976
|
0.00001
|
NM_012433.4(SF3B1):c.1996A>C (p.Lys666Gln)
|
rs754688962
|
0.00001
|
NM_012433.4(SF3B1):c.2225G>A (p.Gly742Asp)
|
rs755415626
|
0.00001
|
NM_020975.6(RET):c.1826G>A (p.Cys609Tyr)
|
rs77939446
|
0.00001
|
NM_020975.6(RET):c.1900T>C (p.Cys634Arg)
|
rs75076352
|
0.00001
|
NM_020975.6(RET):c.2671T>G (p.Ser891Ala)
|
rs75234356
|
0.00001
|
NM_021930.6(RINT1):c.1107+1G>T
|
rs200989342
|
0.00001
|
NM_144997.7(FLCN):c.779+1G>T
|
rs758175953
|
0.00001
|
NC_000001.10:g.(?_193099294)_(193111206_?)del
|
|
|
NC_000001.10:g.(?_193172919)_(193205492_?)dup
|
|
|
NC_000001.10:g.(?_193172925)_(193205486_?)dup
|
|
|
NC_000001.11:g.(?_193130168)_(193135595_?)del
|
|
|
NC_000016.10:g.(?_68737292)_(68737463_?)del
|
|
|
NC_000016.10:g.(?_68810187)_(68813505_?)del
|
|
|
NC_000016.10:g.(?_68821991)_(68822235_?)del
|
|
|
NC_000016.10:g.(?_68821995)_(68823632_?)del
|
|
|
NC_000016.10:g.(?_68833290)_(68835537_?)del
|
|
|
NC_000016.9:g.(?_68835563)_(68835806_?)dup
|
|
|
NC_000016.9:g.(?_68835563)_(68847408_?)dup
|
|
|
NC_000016.9:g.(?_68835567)_(68835802_?)dup
|
|
|
NC_000016.9:g.(?_68835567)_(68847404_?)dup
|
|
|
NC_000016.9:g.(?_68840396)_(68842352_?)del
|
|
|
NC_000016.9:g.(?_68842317)_(68847408_?)del
|
|
|
NC_000016.9:g.(?_68842317)_(68849672_?)dup
|
|
|
NC_000016.9:g.(?_68842317)_(68853338_?)dup
|
|
|
NC_000016.9:g.(?_68853177)_(68863706_?)dup
|
|
|
NC_000016.9:g.(?_68855894)_(68857539_?)del
|
|
|
NM_000038.6(APC):c.1312+3A>G
|
rs863225311
|
|
NM_000038.6(APC):c.2928_2929del (p.Gly977fs)
|
rs2149880355
|
|
NM_000038.6(APC):c.3340C>T (p.Arg1114Ter)
|
rs121913331
|
|
NM_000038.6(APC):c.4638_4639del (p.Asn1546fs)
|
rs1561594148
|
|
NM_000038.6(APC):c.532-8G>A
|
rs1060503323
|
|
NM_000051.4(ATM):c.411C>A (p.Tyr137Ter)
|
rs756160533
|
|
NM_000059.4(BRCA2):c.4963del (p.Tyr1655fs)
|
rs886040557
|
|
NM_000059.4(BRCA2):c.82_147del (p.Leu29_Ser50del)
|
rs1593882341
|
|
NM_000075.4(CDK4):c.70C>A (p.Arg24Ser)
|
rs11547328
|
|
NM_000075.4(CDK4):c.70C>T (p.Arg24Cys)
|
rs11547328
|
|
NM_000075.4(CDK4):c.71G>A (p.Arg24His)
|
rs104894340
|
|
NM_000075.4(CDK4):c.71G>T (p.Arg24Leu)
|
rs104894340
|
|
NM_000077.5(CDKN2A):c.149A>G (p.Gln50Arg)
|
rs587778189
|
|
NM_000077.5(CDKN2A):c.150G>T (p.Gln50His)
|
rs1057519882
|
|
NM_000077.5(CDKN2A):c.239G>A (p.Arg80Gln)
|
rs1057519883
|
|
NM_000077.5(CDKN2A):c.247C>G (p.His83Asp)
|
rs121913385
|
|
NM_000077.5(CDKN2A):c.247C>T (p.His83Tyr)
|
rs121913385
|
|
NM_000077.5(CDKN2A):c.248A>G (p.His83Arg)
|
rs1057519881
|
|
NM_000077.5(CDKN2A):c.249C>G (p.His83Gln)
|
rs34968276
|
|
NM_000123.4(ERCC5):c.1081del (p.Leu361fs)
|
rs2140527110
|
|
NM_000136.3(FANCC):c.595dup (p.Leu199fs)
|
rs1057519366
|
|
NM_000141.5(FGFR2):c.1141T>C (p.Tyr381His)
|
rs387906678
|
|
NM_000141.5(FGFR2):c.1144T>C (p.Cys382Arg)
|
rs121913474
|
|
NM_000141.5(FGFR2):c.1145G>A (p.Cys382Tyr)
|
rs1057519900
|
|
NM_000141.5(FGFR2):c.1605G>A (p.Met535Ile)
|
rs1057519800
|
|
NM_000141.5(FGFR2):c.1605G>C (p.Met535Ile)
|
rs1057519800
|
|
NM_000141.5(FGFR2):c.1605G>T (p.Met535Ile)
|
rs1057519800
|
|
NM_000141.5(FGFR2):c.1611G>A (p.Met537Ile)
|
rs1057519799
|
|
NM_000141.5(FGFR2):c.1611G>C (p.Met537Ile)
|
rs1057519799
|
|
NM_000141.5(FGFR2):c.1611G>T (p.Met537Ile)
|
rs1057519799
|
|
NM_000141.5(FGFR2):c.1639A>G (p.Ile547Val)
|
rs1057519798
|
|
NM_000141.5(FGFR2):c.1642A>C (p.Ile548Leu)
|
rs1057519901
|
|
NM_000141.5(FGFR2):c.1645A>C (p.Asn549His)
|
rs1057519045
|
|
NM_000141.5(FGFR2):c.1647T>A (p.Asn549Lys)
|
rs121913476
|
|
NM_000141.5(FGFR2):c.1647T>G (p.Asn549Lys)
|
rs121913476
|
|
NM_000141.5(FGFR2):c.1690G>A (p.Val564Ile)
|
rs1057519797
|
|
NM_000141.5(FGFR2):c.1694A>G (p.Glu565Gly)
|
rs121918506
|
|
NM_000141.5(FGFR2):c.1849T>A (p.Leu617Met)
|
rs1057519796
|
|
NM_000141.5(FGFR2):c.1914T>A (p.Asn638Lys)
|
rs1057519854
|
|
NM_000141.5(FGFR2):c.1975A>G (p.Lys659Glu)
|
rs1057519795
|
|
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp)
|
rs79184941
|
|
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys)
|
rs121913482
|
|
NM_000179.3(MSH6):c.2300C>T (p.Thr767Ile)
|
rs587781462
|
|
NM_000179.3(MSH6):c.2314C>T (p.Arg772Trp)
|
rs63750138
|
|
NM_000179.3(MSH6):c.3477C>A (p.Tyr1159Ter)
|
rs398123231
|
|
NM_000179.3(MSH6):c.3557-3_3573del
|
rs2104521349
|
|
NM_000179.3(MSH6):c.3701_3706dup (p.Glu1234_Leu1235dup)
|
rs63750523
|
|
NM_000222.3(KIT):c.1924A>G (p.Lys642Glu)
|
rs121913512
|
|
NM_000222.3(KIT):c.1926A>C (p.Lys642Asn)
|
rs1057519907
|
|
NM_000245.4(MET):c.3280C>T (p.His1094Tyr)
|
rs121913244
|
|
NM_000245.4(MET):c.3658G>A (p.Val1220Ile)
|
rs121913670
|
|
NM_000245.4(MET):c.3688T>C (p.Tyr1230His)
|
rs121913247
|
|
NM_000245.4(MET):c.3689A>G (p.Tyr1230Cys)
|
rs121913246
|
|
NM_000245.4(MET):c.3749T>C (p.Met1250Thr)
|
rs121913245
|
|
NM_000249.4(MLH1):c.109G>A (p.Glu37Lys)
|
rs63751012
|
|
NM_000249.4(MLH1):c.116+3A>G
|
rs1553637475
|
|
NM_000249.4(MLH1):c.116+5G>C
|
rs267607710
|
|
NM_000249.4(MLH1):c.1355C>T (p.Thr452Ile)
|
rs1575538276
|
|
NM_000249.4(MLH1):c.1989G>T (p.Glu663Asp)
|
rs63751662
|
|
NM_000249.4(MLH1):c.208-3C>T
|
rs267607720
|
|
NM_000249.4(MLH1):c.2246T>C (p.Leu749Pro)
|
rs267607894
|
|
NM_000249.4(MLH1):c.2258_2259dup (p.Glu754fs)
|
rs1060500698
|
|
NM_000249.4(MLH1):c.250A>G (p.Lys84Glu)
|
rs63750641
|
|
NM_000249.4(MLH1):c.304G>A (p.Glu102Lys)
|
rs63750453
|
|
NM_000249.4(MLH1):c.332C>T (p.Ala111Val)
|
rs63750539
|
|
NM_000249.4(MLH1):c.454-13A>G
|
rs267607749
|
|
NM_000251.3(MSH2):c.1067T>G (p.Ile356Arg)
|
rs753075410
|
|
NM_000251.3(MSH2):c.134C>A (p.Ala45Glu)
|
rs63750285
|
|
NM_000251.3(MSH2):c.1807G>A (p.Asp603Asn)
|
rs63750657
|
|
NM_000251.3(MSH2):c.2005+3_2005+14del
|
rs587779125
|
|
NM_000251.3(MSH2):c.2005G>T (p.Gly669Cys)
|
rs63751668
|
|
NM_000251.3(MSH2):c.211G>C (p.Gly71Arg)
|
rs587782659
|
|
NM_000251.3(MSH2):c.518T>C (p.Leu173Pro)
|
rs63750070
|
|
NM_000251.3(MSH2):c.568CTC[1] (p.Leu191del)
|
rs587779165
|
|
NM_000280.4:c.1267A>T
|
|
|
NM_000314.8(PTEN):c.388C>G (p.Arg130Gly)
|
rs121909224
|
|
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln)
|
rs121909229
|
|
NM_000314.8(PTEN):c.389G>C (p.Arg130Pro)
|
rs121909229
|
|
NM_000314.8(PTEN):c.389G>T (p.Arg130Leu)
|
rs121909229
|
|
NM_000314.8(PTEN):c.698G>A (p.Arg233Gln)
|
rs770025422
|
|
NM_000455.5(STK11):c.580G>A (p.Asp194Asn)
|
rs121913315
|
|
NM_000455.5(STK11):c.647C>T (p.Ser216Phe)
|
rs1057520017
|
|
NM_000458.4(HNF1B):c.1130_1131del (p.Ser377fs)
|
rs2147473703
|
|
NM_000458.4(HNF1B):c.634C>T (p.Gln212Ter)
|
rs2147553451
|
|
NM_000458.4(HNF1B):c.865A>G (p.Asn289Asp)
|
|
|
NM_000516.7(GNAS):c.602G>T (p.Arg201Leu)
|
rs121913495
|
|
NM_000535.7(PMS2):c.1144+250_2175-1948del
|
|
|
NM_000545.8(HNF1A):c.1136C>A (p.Pro379His)
|
rs371717826
|
|
NM_000545.8(HNF1A):c.1310-2A>G
|
rs2135847311
|
|
NM_000545.8(HNF1A):c.818AAG[2] (p.Glu275del)
|
rs1288094664
|
|
NM_000546.6(TP53):c.1031T>C (p.Leu344Pro)
|
rs121912662
|
|
NM_000546.6(TP53):c.1140del (p.His380fs)
|
rs1555524108
|
|
NM_000546.6(TP53):c.245_260del (p.Pro82fs)
|
|
|
NM_000546.6(TP53):c.314G>T (p.Gly105Val)
|
rs587781504
|
|
NM_000546.6(TP53):c.332T>A (p.Leu111Gln)
|
rs1057519997
|
|
NM_000546.6(TP53):c.332T>C (p.Leu111Pro)
|
rs1057519997
|
|
NM_000546.6(TP53):c.332T>G (p.Leu111Arg)
|
rs1057519997
|
|
NM_000546.6(TP53):c.373A>C (p.Thr125Pro)
|
rs1057520003
|
|
NM_000546.6(TP53):c.374C>A (p.Thr125Lys)
|
rs786201057
|
|
NM_000546.6(TP53):c.374C>G (p.Thr125Arg)
|
rs786201057
|
|
NM_000546.6(TP53):c.380C>T (p.Ser127Phe)
|
rs730881999
|
|
NM_000546.6(TP53):c.388C>G (p.Leu130Val)
|
rs863224683
|
|
NM_000546.6(TP53):c.394A>C (p.Lys132Gln)
|
rs747342068
|
|
NM_000546.6(TP53):c.394A>G (p.Lys132Glu)
|
rs747342068
|
|
NM_000546.6(TP53):c.395A>C (p.Lys132Thr)
|
rs1057519996
|
|
NM_000546.6(TP53):c.395A>T (p.Lys132Met)
|
rs1057519996
|
|
NM_000546.6(TP53):c.396G>C (p.Lys132Asn)
|
rs866775781
|
|
NM_000546.6(TP53):c.403T>A (p.Cys135Ser)
|
rs1057519975
|
|
NM_000546.6(TP53):c.403T>C (p.Cys135Arg)
|
rs1057519975
|
|
NM_000546.6(TP53):c.403T>G (p.Cys135Gly)
|
rs1057519975
|
|
NM_000546.6(TP53):c.404G>A (p.Cys135Tyr)
|
rs587781991
|
|
NM_000546.6(TP53):c.404G>T (p.Cys135Phe)
|
rs587781991
|
|
NM_000546.6(TP53):c.405C>G (p.Cys135Trp)
|
rs1057519976
|
|
NM_000546.6(TP53):c.421T>A (p.Cys141Ser)
|
rs1057519978
|
|
NM_000546.6(TP53):c.421T>C (p.Cys141Arg)
|
rs1057519978
|
|
NM_000546.6(TP53):c.421T>G (p.Cys141Gly)
|
rs1057519978
|
|
NM_000546.6(TP53):c.422G>A (p.Cys141Tyr)
|
rs587781288
|
|
NM_000546.6(TP53):c.422G>T (p.Cys141Phe)
|
rs587781288
|
|
NM_000546.6(TP53):c.423C>G (p.Cys141Trp)
|
rs1057519977
|
|
NM_000546.6(TP53):c.427G>A (p.Val143Met)
|
rs587782620
|
|
NM_000546.6(TP53):c.431A>C (p.Gln144Pro)
|
rs786203071
|
|
NM_000546.6(TP53):c.431A>T (p.Gln144Leu)
|
rs786203071
|
|
NM_000546.6(TP53):c.432G>T (p.Gln144His)
|
rs786201419
|
|
NM_000546.6(TP53):c.451C>A (p.Pro151Thr)
|
rs28934874
|
|
NM_000546.6(TP53):c.451C>G (p.Pro151Ala)
|
rs28934874
|
|
NM_000546.6(TP53):c.451C>T (p.Pro151Ser)
|
rs28934874
|
|
NM_000546.6(TP53):c.452C>A (p.Pro151His)
|
rs1057520000
|
|
NM_000546.6(TP53):c.452C>G (p.Pro151Arg)
|
rs1057520000
|
|
NM_000546.6(TP53):c.470T>C (p.Val157Ala)
|
rs1131691023
|
|
NM_000546.6(TP53):c.476C>T (p.Ala159Val)
|
rs1555526131
|
|
NM_000546.6(TP53):c.481G>A (p.Ala161Thr)
|
rs193920817
|
|
NM_000546.6(TP53):c.487T>A (p.Tyr163Asn)
|
rs786203436
|
|
NM_000546.6(TP53):c.487T>C (p.Tyr163His)
|
rs786203436
|
|
NM_000546.6(TP53):c.487T>G (p.Tyr163Asp)
|
rs786203436
|
|
NM_000546.6(TP53):c.517G>A (p.Val173Met)
|
rs876660754
|
|
NM_000546.6(TP53):c.517G>T (p.Val173Leu)
|
rs876660754
|
|
NM_000546.6(TP53):c.518T>A (p.Val173Glu)
|
rs1057519747
|
|
NM_000546.6(TP53):c.518T>C (p.Val173Ala)
|
rs1057519747
|
|
NM_000546.6(TP53):c.518T>G (p.Val173Gly)
|
rs1057519747
|
|
NM_000546.6(TP53):c.523C>G (p.Arg175Gly)
|
rs138729528
|
|
NM_000546.6(TP53):c.526T>A (p.Cys176Ser)
|
rs967461896
|
|
NM_000546.6(TP53):c.526T>C (p.Cys176Arg)
|
rs967461896
|
|
NM_000546.6(TP53):c.526T>G (p.Cys176Gly)
|
rs967461896
|
|
NM_000546.6(TP53):c.527G>A (p.Cys176Tyr)
|
rs786202962
|
|
NM_000546.6(TP53):c.527G>T (p.Cys176Phe)
|
rs786202962
|
|
NM_000546.6(TP53):c.528C>G (p.Cys176Trp)
|
rs1057519980
|
|
NM_000546.6(TP53):c.533A>C (p.His178Pro)
|
rs1555526004
|
|
NM_000546.6(TP53):c.535C>A (p.His179Asn)
|
rs587780070
|
|
NM_000546.6(TP53):c.535C>G (p.His179Asp)
|
rs587780070
|
|
NM_000546.6(TP53):c.536A>C (p.His179Pro)
|
rs1057519991
|
|
NM_000546.6(TP53):c.536A>T (p.His179Leu)
|
rs1057519991
|
|
NM_000546.6(TP53):c.537T>G (p.His179Gln)
|
rs876660821
|
|
NM_000546.6(TP53):c.559+1G>A
|
rs1131691042
|
|
NM_000546.6(TP53):c.577C>A (p.His193Asn)
|
rs876658468
|
|
NM_000546.6(TP53):c.577C>G (p.His193Asp)
|
rs876658468
|
|
NM_000546.6(TP53):c.577C>T (p.His193Tyr)
|
rs876658468
|
|
NM_000546.6(TP53):c.578A>G (p.His193Arg)
|
rs786201838
|
|
NM_000546.6(TP53):c.578A>T (p.His193Leu)
|
rs786201838
|
|
NM_000546.6(TP53):c.580C>T (p.Leu194Phe)
|
rs587780071
|
|
NM_000546.6(TP53):c.581T>A (p.Leu194His)
|
rs1057519998
|
|
NM_000546.6(TP53):c.581T>C (p.Leu194Pro)
|
rs1057519998
|
|
NM_000546.6(TP53):c.581T>G (p.Leu194Arg)
|
rs1057519998
|
|
NM_000546.6(TP53):c.583A>T (p.Ile195Phe)
|
rs942158624
|
|
NM_000546.6(TP53):c.584T>A (p.Ile195Asn)
|
rs760043106
|
|
NM_000546.6(TP53):c.584T>C (p.Ile195Thr)
|
rs760043106
|
|
NM_000546.6(TP53):c.584T>G (p.Ile195Ser)
|
rs760043106
|
|
NM_000546.6(TP53):c.585C>G (p.Ile195Met)
|
rs1057519994
|
|
NM_000546.6(TP53):c.587G>C (p.Arg196Pro)
|
rs483352697
|
|
NM_000546.6(TP53):c.613T>A (p.Tyr205Asn)
|
rs1057520008
|
|
NM_000546.6(TP53):c.613T>C (p.Tyr205His)
|
rs1057520008
|
|
NM_000546.6(TP53):c.613T>G (p.Tyr205Asp)
|
rs1057520008
|
|
NM_000546.6(TP53):c.614A>C (p.Tyr205Ser)
|
rs1057520007
|
|
NM_000546.6(TP53):c.614A>G (p.Tyr205Cys)
|
rs1057520007
|
|
NM_000546.6(TP53):c.614A>T (p.Tyr205Phe)
|
rs1057520007
|
|
NM_000546.6(TP53):c.637C>G (p.Arg213Gly)
|
rs397516436
|
|
NM_000546.6(TP53):c.638G>A (p.Arg213Gln)
|
rs587778720
|
|
NM_000546.6(TP53):c.638G>C (p.Arg213Pro)
|
rs587778720
|
|
NM_000546.6(TP53):c.638G>T (p.Arg213Leu)
|
rs587778720
|
|
NM_000546.6(TP53):c.641A>G (p.His214Arg)
|
rs1057519992
|
|
NM_000546.6(TP53):c.641A>T (p.His214Leu)
|
rs1057519992
|
|
NM_000546.6(TP53):c.643A>G (p.Ser215Gly)
|
rs886039484
|
|
NM_000546.6(TP53):c.644G>A (p.Ser215Asn)
|
rs587782177
|
|
NM_000546.6(TP53):c.644G>T (p.Ser215Ile)
|
rs587782177
|
|
NM_000546.6(TP53):c.645T>G (p.Ser215Arg)
|
rs1057520001
|
|
NM_000546.6(TP53):c.646G>A (p.Val216Met)
|
rs730882025
|
|
NM_000546.6(TP53):c.646G>T (p.Val216Leu)
|
rs730882025
|
|
NM_000546.6(TP53):c.647T>A (p.Val216Glu)
|
rs1057520004
|
|
NM_000546.6(TP53):c.647T>G (p.Val216Gly)
|
rs1057520004
|
|
NM_000546.6(TP53):c.658T>A (p.Tyr220Asn)
|
rs530941076
|
|
NM_000546.6(TP53):c.658T>C (p.Tyr220His)
|
rs530941076
|
|
NM_000546.6(TP53):c.658T>G (p.Tyr220Asp)
|
rs530941076
|
|
NM_000546.6(TP53):c.659A>C (p.Tyr220Ser)
|
rs121912666
|
|
NM_000546.6(TP53):c.700T>A (p.Tyr234Asn)
|
rs864622237
|
|
NM_000546.6(TP53):c.700T>C (p.Tyr234His)
|
rs864622237
|
|
NM_000546.6(TP53):c.700T>G (p.Tyr234Asp)
|
rs864622237
|
|
NM_000546.6(TP53):c.701A>C (p.Tyr234Ser)
|
rs587780073
|
|
NM_000546.6(TP53):c.701A>G (p.Tyr234Cys)
|
rs587780073
|
|
NM_000546.6(TP53):c.706T>A (p.Tyr236Asn)
|
rs587782289
|
|
NM_000546.6(TP53):c.706T>G (p.Tyr236Asp)
|
rs587782289
|
|
NM_000546.6(TP53):c.707A>G (p.Tyr236Cys)
|
rs730882026
|
|
NM_000546.6(TP53):c.709A>G (p.Met237Val)
|
rs730882004
|
|
NM_000546.6(TP53):c.710T>A (p.Met237Lys)
|
rs765848205
|
|
NM_000546.6(TP53):c.711G>T (p.Met237Ile)
|
rs587782664
|
|
NM_000546.6(TP53):c.712T>C (p.Cys238Arg)
|
rs1057519981
|
|
NM_000546.6(TP53):c.712T>G (p.Cys238Gly)
|
rs1057519981
|
|
NM_000546.6(TP53):c.713G>C (p.Cys238Ser)
|
rs730882005
|
|
NM_000546.6(TP53):c.713G>T (p.Cys238Phe)
|
rs730882005
|
|
NM_000546.6(TP53):c.715A>G (p.Asn239Asp)
|
rs876660807
|
|
NM_000546.6(TP53):c.716A>G (p.Asn239Ser)
|
rs1057519999
|
|
NM_000546.6(TP53):c.717C>G (p.Asn239Lys)
|
rs1057522275
|
|
NM_000546.6(TP53):c.717del (p.Asn239fs)
|
|
|
NM_000546.6(TP53):c.721T>C (p.Ser241Pro)
|
rs1057520002
|
|
NM_000546.6(TP53):c.721T>G (p.Ser241Ala)
|
rs1057520002
|
|
NM_000546.6(TP53):c.722C>A (p.Ser241Tyr)
|
rs28934573
|
|
NM_000546.6(TP53):c.722C>G (p.Ser241Cys)
|
rs28934573
|
|
NM_000546.6(TP53):c.722C>T (p.Ser241Phe)
|
rs28934573
|
|
NM_000546.6(TP53):c.722_728del (p.Ser241fs)
|
|
|
NM_000546.6(TP53):c.724T>A (p.Cys242Ser)
|
rs1057519982
|
|
NM_000546.6(TP53):c.724T>G (p.Cys242Gly)
|
rs1057519982
|
|
NM_000546.6(TP53):c.725G>T (p.Cys242Phe)
|
rs121912655
|
|
NM_000546.6(TP53):c.726C>G (p.Cys242Trp)
|
rs375874539
|
|
NM_000546.6(TP53):c.730G>A (p.Gly244Ser)
|
rs1057519989
|
|
NM_000546.6(TP53):c.730G>C (p.Gly244Arg)
|
rs1057519989
|
|
NM_000546.6(TP53):c.730G>T (p.Gly244Cys)
|
rs1057519989
|
|
NM_000546.6(TP53):c.731G>A (p.Gly244Asp)
|
rs985033810
|
|
NM_000546.6(TP53):c.731G>T (p.Gly244Val)
|
rs985033810
|
|
NM_000546.6(TP53):c.733G>C (p.Gly245Arg)
|
rs28934575
|
|
NM_000546.6(TP53):c.733G>T (p.Gly245Cys)
|
rs28934575
|
|
NM_000546.6(TP53):c.734G>A (p.Gly245Asp)
|
rs121912656
|
|
NM_000546.6(TP53):c.734G>C (p.Gly245Ala)
|
rs121912656
|
|
NM_000546.6(TP53):c.734G>T (p.Gly245Val)
|
rs121912656
|
|
NM_000546.6(TP53):c.742C>G (p.Arg248Gly)
|
rs121912651
|
|
NM_000546.6(TP53):c.742C>T (p.Arg248Trp)
|
rs121912651
|
|
NM_000546.6(TP53):c.743G>C (p.Arg248Pro)
|
rs11540652
|
|
NM_000546.6(TP53):c.743G>T (p.Arg248Leu)
|
rs11540652
|
|
NM_000546.6(TP53):c.745A>G (p.Arg249Gly)
|
rs587782082
|
|
NM_000546.6(TP53):c.745A>T (p.Arg249Trp)
|
rs587782082
|
|
NM_000546.6(TP53):c.746G>A (p.Arg249Lys)
|
rs587782329
|
|
NM_000546.6(TP53):c.746G>C (p.Arg249Thr)
|
rs587782329
|
|
NM_000546.6(TP53):c.746G>T (p.Arg249Met)
|
rs587782329
|
|
NM_000546.6(TP53):c.763A>T (p.Ile255Phe)
|
rs1057519995
|
|
NM_000546.6(TP53):c.764T>A (p.Ile255Asn)
|
rs876659675
|
|
NM_000546.6(TP53):c.764T>C (p.Ile255Thr)
|
rs876659675
|
|
NM_000546.6(TP53):c.764T>G (p.Ile255Ser)
|
rs876659675
|
|
NM_000546.6(TP53):c.796G>C (p.Gly266Arg)
|
rs1057519990
|
|
NM_000546.6(TP53):c.797G>A (p.Gly266Glu)
|
rs193920774
|
|
NM_000546.6(TP53):c.797G>T (p.Gly266Val)
|
rs193920774
|
|
NM_000546.6(TP53):c.799C>T (p.Arg267Trp)
|
rs55832599
|
|
NM_000546.6(TP53):c.808T>A (p.Phe270Ile)
|
rs1057519988
|
|
NM_000546.6(TP53):c.808T>G (p.Phe270Val)
|
rs1057519988
|
|
NM_000546.6(TP53):c.809T>C (p.Phe270Ser)
|
rs1057519986
|
|
NM_000546.6(TP53):c.809T>G (p.Phe270Cys)
|
rs1057519986
|
|
NM_000546.6(TP53):c.810T>G (p.Phe270Leu)
|
rs1057519987
|
|
NM_000546.6(TP53):c.814G>A (p.Val272Met)
|
rs121912657
|
|
NM_000546.6(TP53):c.814G>T (p.Val272Leu)
|
rs121912657
|
|
NM_000546.6(TP53):c.815T>A (p.Val272Glu)
|
rs876660333
|
|
NM_000546.6(TP53):c.815T>G (p.Val272Gly)
|
rs876660333
|
|
NM_000546.6(TP53):c.817C>A (p.Arg273Ser)
|
rs121913343
|
|
NM_000546.6(TP53):c.818G>A (p.Arg273His)
|
rs28934576
|
|
NM_000546.6(TP53):c.818G>C (p.Arg273Pro)
|
rs28934576
|
|
NM_000546.6(TP53):c.818G>T (p.Arg273Leu)
|
rs28934576
|
|
NM_000546.6(TP53):c.820G>C (p.Val274Leu)
|
rs1057520005
|
|
NM_000546.6(TP53):c.820G>T (p.Val274Phe)
|
rs1057520005
|
|
NM_000546.6(TP53):c.821T>A (p.Val274Asp)
|
rs1057520006
|
|
NM_000546.6(TP53):c.821T>C (p.Val274Ala)
|
rs1057520006
|
|
NM_000546.6(TP53):c.821T>G (p.Val274Gly)
|
rs1057520006
|
|
NM_000546.6(TP53):c.823T>C (p.Cys275Arg)
|
rs1057519983
|
|
NM_000546.6(TP53):c.824G>C (p.Cys275Ser)
|
rs863224451
|
|
NM_000546.6(TP53):c.824G>T (p.Cys275Phe)
|
rs863224451
|
|
NM_000546.6(TP53):c.830G>A (p.Cys277Tyr)
|
rs763098116
|
|
NM_000546.6(TP53):c.832C>A (p.Pro278Thr)
|
rs17849781
|
|
NM_000546.6(TP53):c.832C>G (p.Pro278Ala)
|
rs17849781
|
|
NM_000546.6(TP53):c.832C>T (p.Pro278Ser)
|
rs17849781
|
|
NM_000546.6(TP53):c.833C>A (p.Pro278His)
|
rs876659802
|
|
NM_000546.6(TP53):c.833C>G (p.Pro278Arg)
|
rs876659802
|
|
NM_000546.6(TP53):c.833C>T (p.Pro278Leu)
|
rs876659802
|
|
NM_000546.6(TP53):c.838A>G (p.Arg280Gly)
|
rs753660142
|
|
NM_000546.6(TP53):c.839G>A (p.Arg280Lys)
|
rs121912660
|
|
NM_000546.6(TP53):c.839G>C (p.Arg280Thr)
|
rs121912660
|
|
NM_000546.6(TP53):c.839G>T (p.Arg280Ile)
|
rs121912660
|
|
NM_000546.6(TP53):c.841G>C (p.Asp281His)
|
rs764146326
|
|
NM_000546.6(TP53):c.841G>T (p.Asp281Tyr)
|
rs764146326
|
|
NM_000546.6(TP53):c.842A>C (p.Asp281Ala)
|
rs587781525
|
|
NM_000546.6(TP53):c.842A>G (p.Asp281Gly)
|
rs587781525
|
|
NM_000546.6(TP53):c.842A>T (p.Asp281Val)
|
rs587781525
|
|
NM_000546.6(TP53):c.843C>G (p.Asp281Glu)
|
rs1057519984
|
|
NM_000546.6(TP53):c.844C>G (p.Arg282Gly)
|
rs28934574
|
|
NM_000546.6(TP53):c.845G>A (p.Arg282Gln)
|
rs730882008
|
|
NM_000546.6(TP53):c.845G>C (p.Arg282Pro)
|
rs730882008
|
|
NM_000546.6(TP53):c.856G>A (p.Glu286Lys)
|
rs786201059
|
|
NM_000546.6(TP53):c.856G>C (p.Glu286Gln)
|
rs786201059
|
|
NM_000546.6(TP53):c.857A>C (p.Glu286Ala)
|
rs1057519985
|
|
NM_000546.6(TP53):c.857A>G (p.Glu286Gly)
|
rs1057519985
|
|
NM_000546.6(TP53):c.857A>T (p.Glu286Val)
|
rs1057519985
|
|
NM_000551.4(VHL):c.154G>A (p.Glu52Lys)
|
rs373068386
|
|
NM_000551.4(VHL):c.266T>A (p.Leu89His)
|
rs5030807
|
|
NM_000551.4(VHL):c.319C>G (p.Arg107Gly)
|
rs397516440
|
|
NM_000551.4(VHL):c.473T>A (p.Leu158Gln)
|
rs121913346
|
|
NM_000551.4(VHL):c.481C>T (p.Arg161Ter)
|
rs5030818
|
|
NM_000876.4(IGF2R):c.52_58del (p.Arg18fs)
|
rs1783569729
|
|
NM_001007228.2(SPOP):c.259T>A (p.Tyr87Asn)
|
rs1057519972
|
|
NM_001007228.2(SPOP):c.260A>C (p.Tyr87Ser)
|
rs1057519971
|
|
NM_001007228.2(SPOP):c.260A>G (p.Tyr87Cys)
|
rs1057519971
|
|
NM_001007228.2(SPOP):c.304T>G (p.Phe102Val)
|
rs1057519964
|
|
NM_001007228.2(SPOP):c.305T>G (p.Phe102Cys)
|
rs193920894
|
|
NM_001007228.2(SPOP):c.306C>G (p.Phe102Leu)
|
rs1057519965
|
|
NM_001007228.2(SPOP):c.391T>A (p.Trp131Arg)
|
rs1057519968
|
|
NM_001007228.2(SPOP):c.391T>G (p.Trp131Gly)
|
rs1057519968
|
|
NM_001007228.2(SPOP):c.392G>C (p.Trp131Ser)
|
rs1057519969
|
|
NM_001007228.2(SPOP):c.393G>T (p.Trp131Cys)
|
rs1057519970
|
|
NM_001007228.2(SPOP):c.397T>A (p.Phe133Ile)
|
rs1057519966
|
|
NM_001007228.2(SPOP):c.397T>G (p.Phe133Val)
|
rs1057519966
|
|
NM_001007228.2(SPOP):c.398T>C (p.Phe133Ser)
|
rs1057519967
|
|
NM_001007228.2(SPOP):c.398T>G (p.Phe133Cys)
|
rs1057519967
|
|
NM_001007228.2(SPOP):c.399C>G (p.Phe133Leu)
|
rs193921065
|
|
NM_001048174.2(MUTYH):c.629A>G (p.Asn210Ser)
|
rs1057517765
|
|
NM_001111067.4(ACVR1):c.772A>G (p.Arg258Gly)
|
rs863224846
|
|
NM_001111067.4(ACVR1):c.773G>T (p.Arg258Met)
|
rs1057519875
|
|
NM_001123385.2(BCOR):c.398_399insAC (p.Ala134fs)
|
rs1555919960
|
|
NM_001123385.2(BCOR):c.4063G>T (p.Glu1355Ter)
|
rs780712297
|
|
NM_001123385.2(BCOR):c.4787_4802del (p.Gly1596fs)
|
rs1555913337
|
|
NM_001281766.3(EPHA5):c.1748G>A (p.Gly583Glu)
|
rs1057520012
|
|
NM_001349798.2(FBXW7):c.1393C>G (p.Arg465Gly)
|
rs867384286
|
|
NM_001349798.2(FBXW7):c.1393C>T (p.Arg465Cys)
|
rs867384286
|
|
NM_001349798.2(FBXW7):c.1394G>A (p.Arg465His)
|
rs1057519895
|
|
NM_001349798.2(FBXW7):c.1394G>C (p.Arg465Pro)
|
rs1057519895
|
|
NM_001349798.2(FBXW7):c.1394G>T (p.Arg465Leu)
|
rs1057519895
|
|
NM_001349798.2(FBXW7):c.1435C>G (p.Arg479Gly)
|
rs747241612
|
|
NM_001349798.2(FBXW7):c.1436G>A (p.Arg479Gln)
|
rs866987936
|
|
NM_001349798.2(FBXW7):c.1436G>C (p.Arg479Pro)
|
rs866987936
|
|
NM_001349798.2(FBXW7):c.1436G>T (p.Arg479Leu)
|
rs866987936
|
|
NM_001349798.2(FBXW7):c.1513C>A (p.Arg505Ser)
|
rs149680468
|
|
NM_001349798.2(FBXW7):c.1513C>G (p.Arg505Gly)
|
rs149680468
|
|
NM_001349798.2(FBXW7):c.1513C>T (p.Arg505Cys)
|
rs149680468
|
|
NM_001349798.2(FBXW7):c.1514G>A (p.Arg505His)
|
rs1057519896
|
|
NM_001349798.2(FBXW7):c.1514G>T (p.Arg505Leu)
|
rs1057519896
|
|
NM_001368894.2(PAX6):c.112C>G (p.Arg38Gly)
|
rs397514640
|
|
NM_001368894.2(PAX6):c.256G>C (p.Gly86Arg)
|
rs759557055
|
|
NM_001378902.1(ROS1):c.6076G>A (p.Gly2026Arg)
|
rs1057519788
|
|
NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys)
|
rs121434592
|
|
NM_001654.5(ARAF):c.640T>G (p.Ser214Ala)
|
rs1057519876
|
|
NM_001654.5(ARAF):c.641C>G (p.Ser214Cys)
|
rs1057519786
|
|
NM_001654.5(ARAF):c.641C>T (p.Ser214Phe)
|
rs1057519786
|
|
NM_001664.4(RHOA):c.118G>A (p.Glu40Lys)
|
rs1057519951
|
|
NM_001664.4(RHOA):c.118G>C (p.Glu40Gln)
|
rs1057519951
|
|
NM_001664.4(RHOA):c.125A>C (p.Tyr42Ser)
|
rs1057519954
|
|
NM_001664.4(RHOA):c.125A>G (p.Tyr42Cys)
|
rs1057519954
|
|
NM_001664.4(RHOA):c.125A>T (p.Tyr42Phe)
|
rs1057519954
|
|
NM_001664.4(RHOA):c.13C>T (p.Arg5Trp)
|
rs1057519952
|
|
NM_001664.4(RHOA):c.14G>A (p.Arg5Gln)
|
rs1057519953
|
|
NM_001664.4(RHOA):c.14G>T (p.Arg5Leu)
|
rs1057519953
|
|
NM_001903.5(CTNNA1):c.105+1G>C
|
rs374313094
|
|
NM_001903.5(CTNNA1):c.1390-6_1392delinsA
|
|
|
NM_001903.5(CTNNA1):c.1997del (p.Gly666fs)
|
rs1181915653
|
|
NM_001903.5(CTNNA1):c.2008dup (p.Arg670fs)
|
|
|
NM_001903.5(CTNNA1):c.2017_2018dup (p.Met673fs)
|
|
|
NM_001903.5(CTNNA1):c.468+1G>T
|
|
|
NM_001904.4(CTNNB1):c.100G>C (p.Gly34Arg)
|
rs121913399
|
|
NM_001904.4(CTNNB1):c.101G>A (p.Gly34Glu)
|
rs28931589
|
|
NM_001904.4(CTNNB1):c.101G>C (p.Gly34Ala)
|
rs28931589
|
|
NM_001904.4(CTNNB1):c.101G>T (p.Gly34Val)
|
rs28931589
|
|
NM_001904.4(CTNNB1):c.109T>C (p.Ser37Pro)
|
rs121913228
|
|
NM_001904.4(CTNNB1):c.109T>G (p.Ser37Ala)
|
rs121913228
|
|
NM_001904.4(CTNNB1):c.110C>A (p.Ser37Tyr)
|
rs121913403
|
|
NM_001904.4(CTNNB1):c.110C>G (p.Ser37Cys)
|
rs121913403
|
|
NM_001904.4(CTNNB1):c.110C>T (p.Ser37Phe)
|
rs121913403
|
|
NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala)
|
rs121913412
|
|
NM_001904.4(CTNNB1):c.122C>A (p.Thr41Asn)
|
rs121913413
|
|
NM_001904.4(CTNNB1):c.122C>T (p.Thr41Ile)
|
rs121913413
|
|
NM_001904.4(CTNNB1):c.133T>C (p.Ser45Pro)
|
rs121913407
|
|
NM_001904.4(CTNNB1):c.134C>A (p.Ser45Tyr)
|
rs121913409
|
|
NM_001904.4(CTNNB1):c.134C>G (p.Ser45Cys)
|
rs121913409
|
|
NM_001904.4(CTNNB1):c.134C>T (p.Ser45Phe)
|
rs121913409
|
|
NM_001904.4(CTNNB1):c.1530dup (p.Val511fs)
|
rs1575330336
|
|
NM_001904.4(CTNNB1):c.94G>A (p.Asp32Asn)
|
rs28931588
|
|
NM_001904.4(CTNNB1):c.94G>C (p.Asp32His)
|
rs28931588
|
|
NM_001904.4(CTNNB1):c.94G>T (p.Asp32Tyr)
|
rs28931588
|
|
NM_001904.4(CTNNB1):c.95A>C (p.Asp32Ala)
|
rs121913396
|
|
NM_001904.4(CTNNB1):c.95A>G (p.Asp32Gly)
|
rs121913396
|
|
NM_001904.4(CTNNB1):c.95A>T (p.Asp32Val)
|
rs121913396
|
|
NM_001904.4(CTNNB1):c.97T>A (p.Ser33Thr)
|
rs1057519886
|
|
NM_001904.4(CTNNB1):c.97T>C (p.Ser33Pro)
|
rs1057519886
|
|
NM_001904.4(CTNNB1):c.97T>G (p.Ser33Ala)
|
rs1057519886
|
|
NM_001904.4(CTNNB1):c.98C>A (p.Ser33Tyr)
|
rs121913400
|
|
NM_001904.4(CTNNB1):c.98C>G (p.Ser33Cys)
|
rs121913400
|
|
NM_001904.4(CTNNB1):c.98C>T (p.Ser33Phe)
|
rs121913400
|
|
NM_001982.4(ERBB3):c.310G>A (p.Val104Met)
|
rs1057519893
|
|
NM_001982.4(ERBB3):c.310G>T (p.Val104Leu)
|
rs1057519893
|
|
NM_001982.4(ERBB3):c.889G>A (p.Asp297Asn)
|
rs1057519891
|
|
NM_001982.4(ERBB3):c.889G>T (p.Asp297Tyr)
|
rs1057519891
|
|
NM_001982.4(ERBB3):c.890A>T (p.Asp297Val)
|
rs1057519892
|
|
NM_002107.7(H3-3A):c.100G>C (p.Gly34Arg)
|
rs1057519902
|
|
NM_002168.4(IDH2):c.514A>G (p.Arg172Gly)
|
rs1057519906
|
|
NM_002168.4(IDH2):c.514A>T (p.Arg172Trp)
|
rs1057519906
|
|
NM_002168.4(IDH2):c.515G>A (p.Arg172Lys)
|
rs121913503
|
|
NM_002168.4(IDH2):c.515G>T (p.Arg172Met)
|
rs121913503
|
|
NM_002467.6(MYC):c.173C>T (p.Pro58Leu)
|
rs1057519918
|
|
NM_002467.6(MYC):c.217A>C (p.Thr73Pro)
|
rs750664148
|
|
NM_002467.6(MYC):c.218C>T (p.Thr73Ile)
|
rs756091827
|
|
NM_002485.5(NBN):c.657_661del (p.Lys219fs)
|
rs587776650
|
|
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys)
|
rs121913254
|
|
NM_002524.5(NRAS):c.182A>C (p.Gln61Pro)
|
rs11554290
|
|
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg)
|
rs11554290
|
|
NM_002524.5(NRAS):c.182A>T (p.Gln61Leu)
|
rs11554290
|
|
NM_002524.5(NRAS):c.183A>T (p.Gln61His)
|
rs121913255
|
|
NM_002524.5(NRAS):c.34G>A (p.Gly12Ser)
|
rs121913250
|
|
NM_002524.5(NRAS):c.34G>C (p.Gly12Arg)
|
rs121913250
|
|
NM_002524.5(NRAS):c.34G>T (p.Gly12Cys)
|
rs121913250
|
|
NM_002524.5(NRAS):c.35G>C (p.Gly12Ala)
|
rs121913237
|
|
NM_002524.5(NRAS):c.35G>T (p.Gly12Val)
|
rs121913237
|
|
NM_002524.5(NRAS):c.37G>C (p.Gly13Arg)
|
rs121434595
|
|
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp)
|
rs121434596
|
|
NM_002524.5(NRAS):c.38G>T (p.Gly13Val)
|
rs121434596
|
|
NM_002529.4(NTRK1):c.1768G>A (p.Glu590Lys)
|
rs1647927494
|
|
NM_002755.4(MAP2K1):c.157T>A (p.Phe53Ile)
|
rs1057519728
|
|
NM_002755.4(MAP2K1):c.157T>G (p.Phe53Val)
|
rs1057519728
|
|
NM_002755.4(MAP2K1):c.159T>G (p.Phe53Leu)
|
rs1057519908
|
|
NM_002755.4(MAP2K1):c.170A>C (p.Lys57Thr)
|
rs1057519909
|
|
NM_002755.4(MAP2K1):c.171G>C (p.Lys57Asn)
|
rs869025608
|
|
NM_002755.4(MAP2K1):c.171G>T (p.Lys57Asn)
|
rs869025608
|
|
NM_002755.4(MAP2K1):c.361T>A (p.Cys121Ser)
|
rs1057519856
|
|
NM_002755.4(MAP2K1):c.362G>C (p.Cys121Ser)
|
rs1057519731
|
|
NM_002834.5(PTPN11):c.1508G>T (p.Gly503Val)
|
rs397507546
|
|
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu)
|
rs80338796
|
|
NM_002957.6(RXRA):c.1280C>A (p.Ser427Tyr)
|
rs1057519958
|
|
NM_002957.6(RXRA):c.1280C>T (p.Ser427Phe)
|
rs1057519958
|
|
NM_003400.4(XPO1):c.1711G>A (p.Glu571Lys)
|
rs1057520009
|
|
NM_003400.4(XPO1):c.1712A>C (p.Glu571Ala)
|
rs1057520010
|
|
NM_003400.4(XPO1):c.1712A>T (p.Glu571Val)
|
rs1057520010
|
|
NM_004048.4(B2M):c.1A>G (p.Met1Val)
|
rs1023835002
|
|
NM_004048.4(B2M):c.1A>T (p.Met1Leu)
|
rs1023835002
|
|
NM_004048.4(B2M):c.2T>C (p.Met1Thr)
|
rs1057519879
|
|
NM_004048.4(B2M):c.2T>G (p.Met1Arg)
|
rs1057519879
|
|
NM_004048.4(B2M):c.3G>A (p.Met1Ile)
|
rs1057519877
|
|
NM_004304.5(ALK):c.3455T>G (p.Leu1152Arg)
|
rs1057519785
|
|
NM_004304.5(ALK):c.3522C>A (p.Phe1174Leu)
|
rs863225281
|
|
NM_004304.5(ALK):c.3522C>G (p.Phe1174Leu)
|
rs863225281
|
|
NM_004304.5(ALK):c.3586C>A (p.Leu1196Met)
|
rs1057519784
|
|
NM_004304.5(ALK):c.3604G>A (p.Gly1202Arg)
|
rs1057519783
|
|
NM_004304.5(ALK):c.3617C>A (p.Ser1206Tyr)
|
rs1057519782
|
|
NM_004304.5(ALK):c.3806G>C (p.Gly1269Ala)
|
rs1057519781
|
|
NM_004333.6(BRAF):c.1397G>A (p.Gly466Glu)
|
rs121913351
|
|
NM_004333.6(BRAF):c.1397G>C (p.Gly466Ala)
|
rs121913351
|
|
NM_004333.6(BRAF):c.1397G>T (p.Gly466Val)
|
rs121913351
|
|
NM_004333.6(BRAF):c.1405G>C (p.Gly469Arg)
|
rs121913357
|
|
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu)
|
rs121913355
|
|
NM_004333.6(BRAF):c.1406G>C (p.Gly469Ala)
|
rs121913355
|
|
NM_004333.6(BRAF):c.1406G>T (p.Gly469Val)
|
rs121913355
|
|
NM_004333.6(BRAF):c.1741A>C (p.Asn581His)
|
rs180177040
|
|
NM_004333.6(BRAF):c.1742A>C (p.Asn581Thr)
|
rs121913370
|
|
NM_004333.6(BRAF):c.1742A>G (p.Asn581Ser)
|
rs121913370
|
|
NM_004333.6(BRAF):c.1780G>A (p.Asp594Asn)
|
rs397516896
|
|
NM_004333.6(BRAF):c.1780G>C (p.Asp594His)
|
rs397516896
|
|
NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly)
|
rs121913338
|
|
NM_004333.6(BRAF):c.1786G>A (p.Gly596Ser)
|
rs121913361
|
|
NM_004333.6(BRAF):c.1786G>C (p.Gly596Arg)
|
rs121913361
|
|
NM_004333.6(BRAF):c.1787G>A (p.Gly596Asp)
|
rs397507483
|
|
NM_004333.6(BRAF):c.1787G>T (p.Gly596Val)
|
rs397507483
|
|
NM_004333.6(BRAF):c.1790T>A (p.Leu597Gln)
|
rs121913366
|
|
NM_004333.6(BRAF):c.1790T>G (p.Leu597Arg)
|
rs121913366
|
|
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu)
|
rs113488022
|
|
NM_004333.6(BRAF):c.1801A>G (p.Lys601Glu)
|
rs121913364
|
|
NM_004333.6(BRAF):c.1802A>C (p.Lys601Thr)
|
rs397507484
|
|
NM_004333.6(BRAF):c.1803A>C (p.Lys601Asn)
|
rs121913365
|
|
NM_004360.5(CDH1):c.1008+1G>T
|
rs1960844889
|
|
NM_004360.5(CDH1):c.1008+2T>C
|
rs1060501237
|
|
NM_004360.5(CDH1):c.1008+2T>G
|
|
|
NM_004360.5(CDH1):c.1008+2_1008+4del
|
|
|
NM_004360.5(CDH1):c.1008G>A (p.Glu336=)
|
rs267606712
|
|
NM_004360.5(CDH1):c.1009-1G>C
|
rs1597894632
|
|
NM_004360.5(CDH1):c.103G>T (p.Glu35Ter)
|
rs1597838625
|
|
NM_004360.5(CDH1):c.1128_1137+1delinsGGAGT
|
|
|
NM_004360.5(CDH1):c.1137+2T>A
|
|
|
NM_004360.5(CDH1):c.1137G>A (p.Thr379=)
|
rs587783050
|
|
NM_004360.5(CDH1):c.1137G>T (p.Thr379=)
|
rs587783050
|
|
NM_004360.5(CDH1):c.1138-2A>G
|
rs2152133290
|
|
NM_004360.5(CDH1):c.1145del (p.Gly382fs)
|
rs1555515863
|
|
NM_004360.5(CDH1):c.1298_1320+12del
|
|
|
NM_004360.5(CDH1):c.12G>A (p.Trp4Ter)
|
rs1555509636
|
|
NM_004360.5(CDH1):c.1319del (p.Lys440fs)
|
|
|
NM_004360.5(CDH1):c.1320+1G>A
|
|
|
NM_004360.5(CDH1):c.1320+1G>C
|
rs886039685
|
|
NM_004360.5(CDH1):c.1321-1G>A
|
|
|
NM_004360.5(CDH1):c.1321-1G>C
|
rs2152134665
|
|
NM_004360.5(CDH1):c.1321-1G>T
|
|
|
NM_004360.5(CDH1):c.1321-6_1324del
|
|
|
NM_004360.5(CDH1):c.1321-9_1331dup
|
|
|
NM_004360.5(CDH1):c.139_163+18del
|
|
|
NM_004360.5(CDH1):c.152_163+11del
|
|
|
NM_004360.5(CDH1):c.1565+1G>A
|
rs587780113
|
|
NM_004360.5(CDH1):c.1565+1G>C
|
rs587780113
|
|
NM_004360.5(CDH1):c.1565+1G>T
|
rs587780113
|
|
NM_004360.5(CDH1):c.1565+1del
|
rs1064795267
|
|
NM_004360.5(CDH1):c.1565+2dup
|
rs1555516200
|
|
NM_004360.5(CDH1):c.1566-2A>G
|
rs1555516520
|
|
NM_004360.5(CDH1):c.1613A>T (p.Asp538Val)
|
rs863224726
|
|
NM_004360.5(CDH1):c.163+1G>A
|
rs1962463097
|
|
NM_004360.5(CDH1):c.163+2T>C
|
|
|
NM_004360.5(CDH1):c.164-1G>A
|
rs1597884512
|
|
NM_004360.5(CDH1):c.164-21_288del
|
|
|
NM_004360.5(CDH1):c.164-2A>G
|
rs2152126585
|
|
NM_004360.5(CDH1):c.1679C>G (p.Thr560Arg)
|
rs746481984
|
|
NM_004360.5(CDH1):c.1711+1G>A
|
rs886041161
|
|
NM_004360.5(CDH1):c.1711+1G>C
|
rs886041161
|
|
NM_004360.5(CDH1):c.1711+1G>T
|
|
|
NM_004360.5(CDH1):c.1711+1dup
|
rs2152137028
|
|
NM_004360.5(CDH1):c.1711+2_1711+7del
|
rs786203089
|
|
NM_004360.5(CDH1):c.1711+5G>A
|
rs1131690818
|
|
NM_004360.5(CDH1):c.1795del (p.Thr599fs)
|
|
|
NM_004360.5(CDH1):c.1895_1896del (p.His632fs)
|
rs1060501224
|
|
NM_004360.5(CDH1):c.1901C>T (p.Ala634Val)
|
rs121964878
|
|
NM_004360.5(CDH1):c.1921C>T (p.Gln641Ter)
|
rs587782750
|
|
NM_004360.5(CDH1):c.1936+1G>A
|
rs2152138630
|
|
NM_004360.5(CDH1):c.1936+5G>A
|
rs1567512631
|
|
NM_004360.5(CDH1):c.1942G>T (p.Glu648Ter)
|
rs971882211
|
|
NM_004360.5(CDH1):c.1982dup (p.Gly661_Asp662insTer)
|
|
|
NM_004360.5(CDH1):c.1A>G (p.Met1Val)
|
rs1555509622
|
|
NM_004360.5(CDH1):c.2062del (p.Cys688fs)
|
|
|
NM_004360.5(CDH1):c.2164+1G>A
|
|
|
NM_004360.5(CDH1):c.2164+1G>C
|
rs1961238458
|
|
NM_004360.5(CDH1):c.2164+1_2164+2del
|
|
|
NM_004360.5(CDH1):c.2164+1del
|
|
|
NM_004360.5(CDH1):c.2164+5G>A
|
|
|
NM_004360.5(CDH1):c.2165-1G>A
|
rs1385720097
|
|
NM_004360.5(CDH1):c.2165-1G>C
|
rs1385720097
|
|
NM_004360.5(CDH1):c.2165-1G>T
|
rs1385720097
|
|
NM_004360.5(CDH1):c.2165-2A>C
|
rs1596970624
|
|
NM_004360.5(CDH1):c.2165-2A>G
|
rs1596970624
|
|
NM_004360.5(CDH1):c.2195G>A (p.Arg732Gln)
|
rs1060501244
|
|
NM_004360.5(CDH1):c.2245C>T (p.Arg749Trp)
|
rs776975632
|
|
NM_004360.5(CDH1):c.2276G>C (p.Gly759Ala)
|
rs945866627
|
|
NM_004360.5(CDH1):c.2287G>T (p.Glu763Ter)
|
rs587780787
|
|
NM_004360.5(CDH1):c.2295+1G>A
|
|
|
NM_004360.5(CDH1):c.2295+1G>C
|
rs1596971108
|
|
NM_004360.5(CDH1):c.2296-1G>A
|
rs1057517542
|
|
NM_004360.5(CDH1):c.2296-2A>G
|
rs876660393
|
|
NM_004360.5(CDH1):c.2296-3A>G
|
rs113067020
|
|
NM_004360.5(CDH1):c.2430del (p.Phe810fs)
|
rs786203752
|
|
NM_004360.5(CDH1):c.2439+1G>T
|
rs1567516230
|
|
NM_004360.5(CDH1):c.2439+5_2439+8del
|
rs587782810
|
|
NM_004360.5(CDH1):c.2440-2A>G
|
rs1555518210
|
|
NM_004360.5(CDH1):c.2440-396_*223del
|
|
|
NM_004360.5(CDH1):c.2444del (p.Leu815fs)
|
rs1596976114
|
|
NM_004360.5(CDH1):c.2446A>T (p.Lys816Ter)
|
rs1555518211
|
|
NM_004360.5(CDH1):c.2461_2467del (p.Asp821fs)
|
|
|
NM_004360.5(CDH1):c.2488_2489dup (p.Leu831fs)
|
|
|
NM_004360.5(CDH1):c.2505_2506dup (p.Glu836fs)
|
rs1555518236
|
|
NM_004360.5(CDH1):c.2520del (p.Glu841fs)
|
|
|
NM_004360.5(CDH1):c.2T>C (p.Met1Thr)
|
rs1555509623
|
|
NM_004360.5(CDH1):c.2T>G (p.Met1Arg)
|
rs1555509623
|
|
NM_004360.5(CDH1):c.388-1G>T
|
|
|
NM_004360.5(CDH1):c.3G>A (p.Met1Ile)
|
rs878854691
|
|
NM_004360.5(CDH1):c.48+1G>A
|
rs1440280370
|
|
NM_004360.5(CDH1):c.49-1G>C
|
|
|
NM_004360.5(CDH1):c.49-1G>T
|
|
|
NM_004360.5(CDH1):c.49-2A>G
|
rs1060501226
|
|
NM_004360.5(CDH1):c.531+1G>A
|
rs1131690808
|
|
NM_004360.5(CDH1):c.531+1G>C
|
rs1131690808
|
|
NM_004360.5(CDH1):c.531+1del
|
|
|
NM_004360.5(CDH1):c.531+2T>C
|
|
|
NM_004360.5(CDH1):c.532-1G>C
|
rs771085839
|
|
NM_004360.5(CDH1):c.532-1del
|
|
|
NM_004360.5(CDH1):c.532-2A>C
|
|
|
NM_004360.5(CDH1):c.532-2A>G
|
|
|
NM_004360.5(CDH1):c.635G>T (p.Gly212Val)
|
rs1555515276
|
|
NM_004360.5(CDH1):c.656del (p.Pro219fs)
|
rs1555515284
|
|
NM_004360.5(CDH1):c.687+1G>A
|
rs1567504977
|
|
NM_004360.5(CDH1):c.687+1G>C
|
rs1567504977
|
|
NM_004360.5(CDH1):c.687+1G>T
|
rs1567504977
|
|
NM_004360.5(CDH1):c.715G>A (p.Gly239Arg)
|
rs587780537
|
|
NM_004360.5(CDH1):c.720del (p.Asn240fs)
|
rs1131690819
|
|
NM_004360.5(CDH1):c.812_833-564del
|
rs1960785868
|
|
NM_004360.5(CDH1):c.832+1G>A
|
rs878854697
|
|
NM_004360.5(CDH1):c.832+1G>T
|
rs878854697
|
|
NM_004360.5(CDH1):c.832G>A (p.Gly278Arg)
|
rs943875725
|
|
NM_004360.5(CDH1):c.833-2A>C
|
|
|
NM_004360.5(CDH1):c.833-2A>G
|
rs1555515596
|
|
NM_004360.5(CDH1):c.833-476_1138-463del
|
|
|
NM_004360.5(CDH1):c.833-8_836del
|
rs1567506511
|
|
NM_004380.3(CREBBP):c.4336C>G (p.Arg1446Gly)
|
rs398124146
|
|
NM_004380.3(CREBBP):c.4336C>T (p.Arg1446Cys)
|
rs398124146
|
|
NM_004380.3(CREBBP):c.4337G>A (p.Arg1446His)
|
rs1057519884
|
|
NM_004380.3(CREBBP):c.4337G>T (p.Arg1446Leu)
|
rs1057519884
|
|
NM_004448.4(ERBB2):c.2033G>A (p.Arg678Gln)
|
rs1057519862
|
|
NM_004448.4(ERBB2):c.2263T>A (p.Leu755Met)
|
rs1057519890
|
|
NM_004448.4(ERBB2):c.2263_2264delinsCC (p.Leu755Pro)
|
rs121913469
|
|
NM_004448.4(ERBB2):c.2264T>C (p.Leu755Ser)
|
rs121913470
|
|
NM_004448.4(ERBB2):c.2264T>G (p.Leu755Trp)
|
rs121913470
|
|
NM_004448.4(ERBB2):c.2305G>A (p.Asp769Asn)
|
rs121913468
|
|
NM_004448.4(ERBB2):c.2305G>C (p.Asp769His)
|
rs121913468
|
|
NM_004448.4(ERBB2):c.2305G>T (p.Asp769Tyr)
|
rs121913468
|
|
NM_004448.4(ERBB2):c.2326G>A (p.Gly776Ser)
|
rs28933369
|
|
NM_004448.4(ERBB2):c.2329G>A (p.Val777Met)
|
rs121913471
|
|
NM_004448.4(ERBB2):c.2329G>T (p.Val777Leu)
|
rs121913471
|
|
NM_004448.4(ERBB2):c.2524G>A (p.Val842Ile)
|
rs1057519738
|
|
NM_004448.4(ERBB2):c.926G>A (p.Gly309Glu)
|
rs1057519787
|
|
NM_004448.4(ERBB2):c.929C>A (p.Ser310Tyr)
|
rs1057519816
|
|
NM_004448.4(ERBB2):c.929C>T (p.Ser310Phe)
|
rs1057519816
|
|
NM_004656.4(BAP1):c.535C>T (p.Arg179Trp)
|
rs910211860
|
|
NM_004958.4(MTOR):c.4379T>C (p.Leu1460Pro)
|
rs1057519779
|
|
NM_004958.4(MTOR):c.4447T>C (p.Cys1483Arg)
|
rs1057519914
|
|
NM_004958.4(MTOR):c.4448G>A (p.Cys1483Tyr)
|
rs786205165
|
|
NM_004958.4(MTOR):c.4448G>T (p.Cys1483Phe)
|
rs786205165
|
|
NM_004958.4(MTOR):c.4449C>G (p.Cys1483Trp)
|
rs1057519913
|
|
NM_004958.4(MTOR):c.6643T>A (p.Ser2215Thr)
|
rs1057519917
|
|
NM_004958.4(MTOR):c.6644C>A (p.Ser2215Tyr)
|
rs587777894
|
|
NM_004958.4(MTOR):c.6644C>T (p.Ser2215Phe)
|
rs587777894
|
|
NM_004958.4(MTOR):c.6667C>A (p.Gln2223Lys)
|
rs1057519778
|
|
NM_004958.4(MTOR):c.7498A>T (p.Ile2500Phe)
|
rs1057519916
|
|
NM_004958.4(MTOR):c.7500T>G (p.Ile2500Met)
|
rs1057519915
|
|
NM_004958.4(MTOR):c.7514G>C (p.Arg2505Pro)
|
rs1057519777
|
|
NM_004985.5(KRAS):c.182A>T (p.Gln61Leu)
|
rs121913240
|
|
NM_004985.5(KRAS):c.183A>T (p.Gln61His)
|
rs17851045
|
|
NM_004985.5(KRAS):c.34G>T (p.Gly12Cys)
|
rs121913530
|
|
NM_004985.5(KRAS):c.445A>T (p.Arg149Ter)
|
rs2141505552
|
|
NM_005027.4(PIK3R2):c.1681A>G (p.Asn561Asp)
|
rs1057519801
|
|
NM_005120.3(MED12):c.3670C>G (p.Leu1224Val)
|
rs1057519912
|
|
NM_005120.3(MED12):c.3670C>T (p.Leu1224Phe)
|
rs1057519912
|
|
NM_005228.5(EGFR):c.2068G>A (p.Glu690Lys)
|
rs1057519794
|
|
NM_005228.5(EGFR):c.2155G>T (p.Gly719Cys)
|
rs28929495
|
|
NM_005228.5(EGFR):c.2156G>A (p.Gly719Asp)
|
rs121913428
|
|
NM_005228.5(EGFR):c.2156G>C (p.Gly719Ala)
|
rs121913428
|
|
NM_005228.5(EGFR):c.2248G>C (p.Ala750Pro)
|
rs121913229
|
|
NM_005228.5(EGFR):c.2309_2310insGTC (p.Asp770delinsGluSer)
|
rs1554350382
|
|
NM_005228.5(EGFR):c.2573T>G (p.Leu858Arg)
|
rs121434568
|
|
NM_005228.5(EGFR):c.2582T>A (p.Leu861Gln)
|
rs121913444
|
|
NM_005343.4(HRAS):c.181C>G (p.Gln61Glu)
|
rs28933406
|
|
NM_005343.4(HRAS):c.182A>C (p.Gln61Pro)
|
rs121913233
|
|
NM_005343.4(HRAS):c.182A>T (p.Gln61Leu)
|
rs121913233
|
|
NM_005343.4(HRAS):c.183G>T (p.Gln61His)
|
rs121913496
|
|
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser)
|
rs104894229
|
|
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys)
|
rs104894229
|
|
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala)
|
rs104894230
|
|
NM_005343.4(HRAS):c.37G>A (p.Gly13Ser)
|
rs104894228
|
|
NM_005343.4(HRAS):c.37G>C (p.Gly13Arg)
|
rs104894228
|
|
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys)
|
rs104894228
|
|
NM_005343.4(HRAS):c.38G>C (p.Gly13Ala)
|
rs104894226
|
|
NM_005343.4(HRAS):c.38G>T (p.Gly13Val)
|
rs104894226
|
|
NM_005343.4(HRAS):c.436G>A (p.Ala146Thr)
|
rs104894231
|
|
NM_005343.4(HRAS):c.436G>C (p.Ala146Pro)
|
rs104894231
|
|
NM_005343.4(HRAS):c.437C>T (p.Ala146Val)
|
rs121917759
|
|
NM_005359.6(SMAD4):c.1081C>G (p.Arg361Gly)
|
rs80338963
|
|
NM_005359.6(SMAD4):c.1081C>T (p.Arg361Cys)
|
rs80338963
|
|
NM_005359.6(SMAD4):c.1082G>A (p.Arg361His)
|
rs377767347
|
|
NM_005359.6(SMAD4):c.1082G>C (p.Arg361Pro)
|
rs377767347
|
|
NM_005359.6(SMAD4):c.1156G>A (p.Gly386Ser)
|
rs1057519962
|
|
NM_005359.6(SMAD4):c.1156G>T (p.Gly386Cys)
|
rs1057519962
|
|
NM_005359.6(SMAD4):c.1157G>A (p.Gly386Asp)
|
rs121912580
|
|
NM_005359.6(SMAD4):c.1157G>C (p.Gly386Ala)
|
rs121912580
|
|
NM_005359.6(SMAD4):c.1157G>T (p.Gly386Val)
|
rs121912580
|
|
NM_005378.6(MYCN):c.131C>T (p.Pro44Leu)
|
rs1057519919
|
|
NM_005444.3(CNOT9):c.259T>C (p.Ser87Pro)
|
rs1057519956
|
|
NM_005444.3(CNOT9):c.260C>G (p.Ser87Cys)
|
rs1057519957
|
|
NM_005614.4(RHEB):c.103T>A (p.Tyr35Asn)
|
rs1057519949
|
|
NM_005614.4(RHEB):c.104A>G (p.Tyr35Cys)
|
rs1057519950
|
|
NM_005633.4(SOS1):c.697A>T (p.Asn233Tyr)
|
rs1057519963
|
|
NM_005648.4(ELOC):c.235T>A (p.Tyr79Asn)
|
rs1057519974
|
|
NM_005648.4(ELOC):c.236A>C (p.Tyr79Ser)
|
rs1057519973
|
|
NM_005648.4(ELOC):c.236A>T (p.Tyr79Phe)
|
rs1057519973
|
|
NM_005732.4(RAD50):c.1875C>G (p.Tyr625Ter)
|
rs149201802
|
|
NM_005732.4(RAD50):c.2046del (p.Val683fs)
|
|
|
NM_005732.4(RAD50):c.2524+1_2524+9del
|
|
|
NM_005896.4(IDH1):c.394C>A (p.Arg132Ser)
|
rs121913499
|
|
NM_005896.4(IDH1):c.394C>G (p.Arg132Gly)
|
rs121913499
|
|
NM_005896.4(IDH1):c.395G>T (p.Arg132Leu)
|
rs121913500
|
|
NM_006164.5(NFE2L2):c.235G>A (p.Glu79Lys)
|
rs1057519922
|
|
NM_006164.5(NFE2L2):c.235G>C (p.Glu79Gln)
|
rs1057519922
|
|
NM_006164.5(NFE2L2):c.236A>T (p.Glu79Val)
|
rs1057519923
|
|
NM_006164.5(NFE2L2):c.237G>T (p.Glu79Asp)
|
rs1057519924
|
|
NM_006164.5(NFE2L2):c.85G>A (p.Asp29Asn)
|
rs1057519920
|
|
NM_006164.5(NFE2L2):c.85G>C (p.Asp29His)
|
rs1057519920
|
|
NM_006164.5(NFE2L2):c.85G>T (p.Asp29Tyr)
|
rs1057519920
|
|
NM_006164.5(NFE2L2):c.86A>G (p.Asp29Gly)
|
rs1057519921
|
|
NM_006218.4(PIK3CA):c.1033A>C (p.Asn345His)
|
rs1057519939
|
|
NM_006218.4(PIK3CA):c.1034A>C (p.Asn345Thr)
|
rs1057519938
|
|
NM_006218.4(PIK3CA):c.1034A>T (p.Asn345Ile)
|
rs1057519938
|
|
NM_006218.4(PIK3CA):c.1035T>A (p.Asn345Lys)
|
rs121913284
|
|
NM_006218.4(PIK3CA):c.112C>A (p.Arg38Ser)
|
rs749415085
|
|
NM_006218.4(PIK3CA):c.112C>G (p.Arg38Gly)
|
rs749415085
|
|
NM_006218.4(PIK3CA):c.112C>T (p.Arg38Cys)
|
rs749415085
|
|
NM_006218.4(PIK3CA):c.113G>A (p.Arg38His)
|
rs772110575
|
|
NM_006218.4(PIK3CA):c.113G>T (p.Arg38Leu)
|
rs772110575
|
|
NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg)
|
rs121913272
|
|
NM_006218.4(PIK3CA):c.1258T>G (p.Cys420Gly)
|
rs121913272
|
|
NM_006218.4(PIK3CA):c.1357G>A (p.Glu453Lys)
|
rs1057519925
|
|
NM_006218.4(PIK3CA):c.1357G>C (p.Glu453Gln)
|
rs1057519925
|
|
NM_006218.4(PIK3CA):c.1359A>T (p.Glu453Asp)
|
rs1057519926
|
|
NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys)
|
rs121913273
|
|
NM_006218.4(PIK3CA):c.1624G>C (p.Glu542Gln)
|
rs121913273
|
|
NM_006218.4(PIK3CA):c.1625A>C (p.Glu542Ala)
|
rs1057519927
|
|
NM_006218.4(PIK3CA):c.1625A>G (p.Glu542Gly)
|
rs1057519927
|
|
NM_006218.4(PIK3CA):c.1625A>T (p.Glu542Val)
|
rs1057519927
|
|
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys)
|
rs104886003
|
|
NM_006218.4(PIK3CA):c.1633G>C (p.Glu545Gln)
|
rs104886003
|
|
NM_006218.4(PIK3CA):c.1634A>C (p.Glu545Ala)
|
rs121913274
|
|
NM_006218.4(PIK3CA):c.1634A>G (p.Glu545Gly)
|
rs121913274
|
|
NM_006218.4(PIK3CA):c.1635G>T (p.Glu545Asp)
|
rs121913275
|
|
NM_006218.4(PIK3CA):c.1636C>A (p.Gln546Lys)
|
rs121913286
|
|
NM_006218.4(PIK3CA):c.1636C>G (p.Gln546Glu)
|
rs121913286
|
|
NM_006218.4(PIK3CA):c.1637A>C (p.Gln546Pro)
|
rs397517201
|
|
NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg)
|
rs397517201
|
|
NM_006218.4(PIK3CA):c.1637A>T (p.Gln546Leu)
|
rs397517201
|
|
NM_006218.4(PIK3CA):c.1638G>T (p.Gln546His)
|
rs1057519940
|
|
NM_006218.4(PIK3CA):c.2176G>A (p.Glu726Lys)
|
rs867262025
|
|
NM_006218.4(PIK3CA):c.2177A>C (p.Glu726Ala)
|
rs1057519928
|
|
NM_006218.4(PIK3CA):c.241G>A (p.Glu81Lys)
|
rs1057519929
|
|
NM_006218.4(PIK3CA):c.263G>A (p.Arg88Gln)
|
rs121913287
|
|
NM_006218.4(PIK3CA):c.3127A>G (p.Met1043Val)
|
rs1057519936
|
|
NM_006218.4(PIK3CA):c.3127A>T (p.Met1043Leu)
|
rs1057519936
|
|
NM_006218.4(PIK3CA):c.3128T>C (p.Met1043Thr)
|
rs1057519937
|
|
NM_006218.4(PIK3CA):c.3129G>A (p.Met1043Ile)
|
rs121913283
|
|
NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr)
|
rs121913281
|
|
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg)
|
rs121913279
|
|
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu)
|
rs121913279
|
|
NM_006218.4(PIK3CA):c.3141T>G (p.His1047Gln)
|
rs1057519932
|
|
NM_006218.4(PIK3CA):c.331A>G (p.Lys111Glu)
|
rs1057519933
|
|
NM_006218.4(PIK3CA):c.332A>G (p.Lys111Arg)
|
rs1057519935
|
|
NM_006218.4(PIK3CA):c.333G>C (p.Lys111Asn)
|
rs1057519934
|
|
NM_006218.4(PIK3CA):c.353G>A (p.Gly118Asp)
|
rs587777790
|
|
NM_006231.4(POLE):c.1231G>T (p.Val411Leu)
|
rs1057519945
|
|
NM_006231.4(POLE):c.856C>T (p.Pro286Ser)
|
rs1057519944
|
|
NM_006231.4(POLE):c.857C>A (p.Pro286His)
|
rs1057519943
|
|
NM_006231.4(POLE):c.857C>G (p.Pro286Arg)
|
rs1057519943
|
|
NM_006758.3(U2AF1):c.101C>T (p.Ser34Phe)
|
rs371769427
|
|
NM_006842.3(SF3B2):c.1997A>C (p.His666Pro)
|
rs1057519959
|
|
NM_006842.3(SF3B2):c.2099A>G (p.Glu700Gly)
|
rs1057519960
|
|
NM_012433.4(SF3B1):c.1873C>T (p.Arg625Cys)
|
rs775623976
|
|
NM_012433.4(SF3B1):c.1874G>A (p.Arg625His)
|
rs1057519961
|
|
NM_012433.4(SF3B1):c.1996A>G (p.Lys666Glu)
|
rs754688962
|
|
NM_014225.6(PPP2R1A):c.547C>G (p.Arg183Gly)
|
rs1057519946
|
|
NM_014225.6(PPP2R1A):c.547C>T (p.Arg183Trp)
|
rs1057519946
|
|
NM_014225.6(PPP2R1A):c.548G>A (p.Arg183Gln)
|
rs1057519947
|
|
NM_015965.7(NDUFA13):c.44dup (p.Tyr16fs)
|
|
|
NM_015965.7(NDUFA13):c.94+1G>A
|
|
|
NM_016507.4(CDK12):c.2636G>T (p.Gly879Val)
|
rs1131692238
|
|
NM_017617.5(NOTCH1):c.2825G>A (p.Cys942Tyr)
|
rs1554728658
|
|
NM_017617.5(NOTCH1):c.4045_4052del (p.Ala1349fs)
|
rs1554728034
|
|
NM_020975.6(RET):c.1664T>G (p.Phe555Cys)
|
|
|
NM_020975.6(RET):c.1834_1860del (p.Phe612_Cys620del)
|
rs121913313
|
|
NM_020975.6(RET):c.1852T>C (p.Cys618Arg)
|
rs76262710
|
|
NM_020975.6(RET):c.1853G>A (p.Cys618Tyr)
|
rs79781594
|
|
NM_020975.6(RET):c.1859G>A (p.Cys620Tyr)
|
rs77503355
|
|
NM_020975.6(RET):c.1888T>C (p.Cys630Arg)
|
rs377767404
|
|
NM_020975.6(RET):c.1892A>G (p.Asp631Gly)
|
rs121913308
|
|
NM_020975.6(RET):c.1894_1899del (p.Glu632_Leu633del)
|
rs121913312
|
|
NM_020975.6(RET):c.1901G>A (p.Cys634Tyr)
|
rs75996173
|
|
NM_020975.6(RET):c.1902C>G (p.Cys634Trp)
|
rs77709286
|
|
NM_020975.6(RET):c.1947G>A (p.Ser649=)
|
rs377767412
|
|
NM_020975.6(RET):c.1998G>C (p.Lys666Asn)
|
rs146646971
|
|
NM_020975.6(RET):c.2304G>C (p.Glu768Asp)
|
rs78014899
|
|
NM_020975.6(RET):c.2370G>C (p.Leu790Phe)
|
rs75030001
|
|
NM_020975.6(RET):c.2410G>C (p.Val804Leu)
|
rs79658334
|
|
NM_020975.6(RET):c.2647_2648delinsTT (p.Ala883Phe)
|
rs377767429
|
|
NM_020975.6(RET):c.2694_2705del (p.Asp898_Glu901del)
|
rs121913309
|
|
NM_020975.6(RET):c.2753T>C (p.Met918Thr)
|
rs74799832
|
|
NM_021930.6(RINT1):c.1021C>G (p.Leu341Val)
|
rs151055286
|
|
NM_022552.5(DNMT3A):c.2644C>T (p.Arg882Cys)
|
rs377577594
|
|
NM_022552.5(DNMT3A):c.2645G>A (p.Arg882His)
|
rs147001633
|
|
NM_022552.5(DNMT3A):c.2645G>C (p.Arg882Pro)
|
rs147001633
|
|
NM_023110.3(FGFR1):c.1543A>G (p.Met515Val)
|
rs1057519899
|
|
NM_023110.3(FGFR1):c.1636A>G (p.Asn546Asp)
|
rs1057519898
|
|
NM_023110.3(FGFR1):c.1638C>A (p.Asn546Lys)
|
rs779707422
|
|
NM_023110.3(FGFR1):c.1966A>G (p.Lys656Glu)
|
rs869320694
|
|
NM_023110.3(FGFR1):c.1968G>C (p.Lys656Asn)
|
rs1057519897
|
|
NM_024529.5(CDC73):c.1030+2T>C
|
|
|
NM_024529.5(CDC73):c.1067-2_1069del
|
rs2102038469
|
|
NM_024529.5(CDC73):c.1155-3A>G
|
rs1060500014
|
|
NM_024529.5(CDC73):c.1316+1del
|
rs2102058495
|
|
NM_024529.5(CDC73):c.132-2A>C
|
|
|
NM_024529.5(CDC73):c.1450C>T (p.Arg484Cys)
|
rs1225502334
|
|
NM_024529.5(CDC73):c.188T>C (p.Leu63Pro)
|
rs1060500015
|
|
NM_024529.5(CDC73):c.191T>C (p.Leu64Pro)
|
rs121434264
|
|
NM_024529.5(CDC73):c.237_237+1insA
|
|
|
NM_024529.5(CDC73):c.238-8G>A
|
rs2103117753
|
|
NM_024529.5(CDC73):c.307+1G>A
|
|
|
NM_024529.5(CDC73):c.480_481del (p.His160fs)
|
rs1572152420
|
|
NM_024529.5(CDC73):c.513-1G>A
|
|
|
NM_024529.5(CDC73):c.729+1G>T
|
rs1060500012
|
|
NM_024675.4(PALB2):c.892_893del (p.Val298fs)
|
rs2142431841
|
|
NM_030662.4(MAP2K2):c.169T>G (p.Phe57Val)
|
rs121434498
|
|
NM_030662.4(MAP2K2):c.171T>G (p.Phe57Leu)
|
rs1057519910
|
|
NM_032043.3(BRIP1):c.1702_1703del (p.Asn568fs)
|
rs1057519365
|
|
NM_033360.4(KRAS):c.351A>C (p.Lys117Asn)
|
rs770248150
|
|
NM_144997.7(FLCN):c.1357_1363del (p.Gly453fs)
|
rs1131690841
|
|
NM_144997.7(FLCN):c.1657T>C (p.Trp553Arg)
|
rs1131690833
|
|
NM_144997.7(FLCN):c.189del (p.Ala64fs)
|
rs876660611
|
|
NM_152641.4(ARID2):c.2989C>T (p.Gln997Ter)
|
rs1555155110
|
|
NM_198253.3(TERT):c.200C>T (p.Ala67Val)
|
rs1554043124
|
|
NM_206937.2(LIG4):c.1673A>C (p.Gln558Pro)
|
rs751409106
|
|
NM_207122.2(EXT2):c.1242C>T (p.Ile414=)
|
rs2135127852
|
|
t(8;10)(q12.1;q23.31)
|
|
|