ClinVar Miner

List of variants reported as likely pathogenic for adenocarcinoma

Included ClinVar conditions (109):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 879
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HGVS dbSNP gnomAD frequency
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)

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