ClinVar Miner

List of variants reported as likely pathogenic for Squamous cell carcinoma of the head and neck

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ClinVar version:
Total variants: 335
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HGVS dbSNP
NM_000077.4(CDKN2A):c.149A>G (p.Gln50Arg) rs587778189
NM_000077.4(CDKN2A):c.239G>A (p.Arg80Gln) rs1057519883
NM_000077.4(CDKN2A):c.247C>T (p.His83Tyr) rs121913385
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_000314.7(PTEN):c.389G>A (p.Arg130Gln) rs121909229
NM_000314.7(PTEN):c.389G>C (p.Arg130Pro) rs121909229
NM_000314.7(PTEN):c.389G>T (p.Arg130Leu) rs121909229
NM_000516.6(GNAS):c.601C>T (p.Arg201Cys) rs11554273
NM_000516.6(GNAS):c.602G>A (p.Arg201His) rs121913495
NM_000516.6(GNAS):c.602G>T (p.Arg201Leu) rs121913495
NM_000546.6(TP53):c.396G>C (p.Lys132Asn) rs866775781
NM_000546.6(TP53):c.451C>T (p.Pro151Ser) rs28934874
NM_000546.6(TP53):c.542G>A (p.Arg181His) rs397514495
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) rs587778720
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) rs121912666
NM_000546.6(TP53):c.718A>G (p.Ser240Gly) rs1567549584
NM_000546.6(TP53):c.722C>G (p.Ser241Cys) rs28934573
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) rs28934575
NM_000546.6(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652
NM_000546.6(TP53):c.797G>A (p.Gly266Glu) rs193920774
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) rs28934574
NM_000546.6(TP53):c.845G>C (p.Arg282Pro) rs730882008
NM_001025203.1(U2AF1):c.101C>A (p.Ser34Tyr) rs371769427
NM_001025203.1(U2AF1):c.101C>T (p.Ser34Phe) rs371769427
NM_001126112.2(TP53):c.373A>C (p.Thr125Pro) rs1057520003
NM_001126112.2(TP53):c.374C>A (p.Thr125Lys) rs786201057
NM_001126112.2(TP53):c.374C>G (p.Thr125Arg) rs786201057
NM_001126112.2(TP53):c.374C>T (p.Thr125Met) rs786201057
NM_001126112.2(TP53):c.394A>C (p.Lys132Gln) rs747342068
NM_001126112.2(TP53):c.394A>G (p.Lys132Glu) rs747342068
NM_001126112.2(TP53):c.395A>C (p.Lys132Thr) rs1057519996
NM_001126112.2(TP53):c.395A>G (p.Lys132Arg) rs1057519996
NM_001126112.2(TP53):c.395A>T (p.Lys132Met) rs1057519996
NM_001126112.2(TP53):c.421T>A (p.Cys141Ser) rs1057519978
NM_001126112.2(TP53):c.421T>C (p.Cys141Arg) rs1057519978
NM_001126112.2(TP53):c.421T>G (p.Cys141Gly) rs1057519978
NM_001126112.2(TP53):c.422G>A (p.Cys141Tyr) rs587781288
NM_001126112.2(TP53):c.422G>T (p.Cys141Phe) rs587781288
NM_001126112.2(TP53):c.423C>G (p.Cys141Trp) rs1057519977
NM_001126112.2(TP53):c.431A>C (p.Gln144Pro) rs786203071
NM_001126112.2(TP53):c.431A>T (p.Gln144Leu) rs786203071
NM_001126112.2(TP53):c.432G>T (p.Gln144His) rs786201419
NM_001126112.2(TP53):c.451C>A (p.Pro151Thr) rs28934874
NM_001126112.2(TP53):c.451C>G (p.Pro151Ala) rs28934874
NM_001126112.2(TP53):c.452C>A (p.Pro151His) rs1057520000
NM_001126112.2(TP53):c.452C>G (p.Pro151Arg) rs1057520000
NM_001126112.2(TP53):c.473G>C (p.Arg158Pro) rs587782144
NM_001126112.2(TP53):c.487T>A (p.Tyr163Asn) rs786203436
NM_001126112.2(TP53):c.487T>C (p.Tyr163His) rs786203436
NM_001126112.2(TP53):c.487T>G (p.Tyr163Asp) rs786203436
NM_001126112.2(TP53):c.488A>G (p.Tyr163Cys) rs148924904
NM_001126112.2(TP53):c.517G>A (p.Val173Met) rs876660754
NM_001126112.2(TP53):c.517G>T (p.Val173Leu) rs876660754
NM_001126112.2(TP53):c.518T>A (p.Val173Glu) rs1057519747
NM_001126112.2(TP53):c.518T>C (p.Val173Ala) rs1057519747
NM_001126112.2(TP53):c.518T>G (p.Val173Gly) rs1057519747
NM_001126112.2(TP53):c.523C>G (p.Arg175Gly) rs138729528
NM_001126112.2(TP53):c.523C>T (p.Arg175Cys) rs138729528
NM_001126112.2(TP53):c.526T>A (p.Cys176Ser) rs967461896
NM_001126112.2(TP53):c.526T>C (p.Cys176Arg) rs967461896
NM_001126112.2(TP53):c.526T>G (p.Cys176Gly) rs967461896
NM_001126112.2(TP53):c.527G>A (p.Cys176Tyr) rs786202962
NM_001126112.2(TP53):c.527G>T (p.Cys176Phe) rs786202962
NM_001126112.2(TP53):c.528C>G (p.Cys176Trp) rs1057519980
NM_001126112.2(TP53):c.535C>A (p.His179Asn) rs587780070
NM_001126112.2(TP53):c.535C>G (p.His179Asp) rs587780070
NM_001126112.2(TP53):c.535C>T (p.His179Tyr) rs587780070
NM_001126112.2(TP53):c.536A>C (p.His179Pro) rs1057519991
NM_001126112.2(TP53):c.536A>G (p.His179Arg) rs1057519991
NM_001126112.2(TP53):c.536A>T (p.His179Leu) rs1057519991
NM_001126112.2(TP53):c.537T>G (p.His179Gln) rs876660821
NM_001126112.2(TP53):c.577C>A (p.His193Asn) rs876658468
NM_001126112.2(TP53):c.577C>G (p.His193Asp) rs876658468
NM_001126112.2(TP53):c.577C>T (p.His193Tyr) rs876658468
NM_001126112.2(TP53):c.578A>C (p.His193Pro) rs786201838
NM_001126112.2(TP53):c.578A>G (p.His193Arg) rs786201838
NM_001126112.2(TP53):c.578A>T (p.His193Leu) rs786201838
NM_001126112.2(TP53):c.580C>T (p.Leu194Phe) rs587780071
NM_001126112.2(TP53):c.581T>A (p.Leu194His) rs1057519998
NM_001126112.2(TP53):c.581T>C (p.Leu194Pro) rs1057519998
NM_001126112.2(TP53):c.581T>G (p.Leu194Arg) rs1057519998
NM_001126112.2(TP53):c.583A>T (p.Ile195Phe) rs942158624
NM_001126112.2(TP53):c.584T>A (p.Ile195Asn) rs760043106
NM_001126112.2(TP53):c.584T>C (p.Ile195Thr) rs760043106
NM_001126112.2(TP53):c.584T>G (p.Ile195Ser) rs760043106
NM_001126112.2(TP53):c.585C>G (p.Ile195Met) rs1057519994
NM_001126112.2(TP53):c.587G>C (p.Arg196Pro) rs483352697
NM_001126112.2(TP53):c.613T>A (p.Tyr205Asn) rs1057520008
NM_001126112.2(TP53):c.613T>C (p.Tyr205His) rs1057520008
NM_001126112.2(TP53):c.613T>G (p.Tyr205Asp) rs1057520008
NM_001126112.2(TP53):c.614A>C (p.Tyr205Ser) rs1057520007
NM_001126112.2(TP53):c.614A>G (p.Tyr205Cys) rs1057520007
NM_001126112.2(TP53):c.614A>T (p.Tyr205Phe) rs1057520007
NM_001126112.2(TP53):c.637C>G (p.Arg213Gly) rs397516436
NM_001126112.2(TP53):c.638G>C (p.Arg213Pro) rs587778720
NM_001126112.2(TP53):c.638G>T (p.Arg213Leu) rs587778720
NM_001126112.2(TP53):c.646G>A (p.Val216Met) rs730882025
NM_001126112.2(TP53):c.646G>T (p.Val216Leu) rs730882025
NM_001126112.2(TP53):c.647T>A (p.Val216Glu) rs1057520004
NM_001126112.2(TP53):c.647T>G (p.Val216Gly) rs1057520004
NM_001126112.2(TP53):c.658T>A (p.Tyr220Asn) rs530941076
NM_001126112.2(TP53):c.658T>C (p.Tyr220His) rs530941076
NM_001126112.2(TP53):c.658T>G (p.Tyr220Asp) rs530941076
NM_001126112.2(TP53):c.659A>C (p.Tyr220Ser) rs121912666
NM_001126112.2(TP53):c.700T>A (p.Tyr234Asn) rs864622237
NM_001126112.2(TP53):c.700T>C (p.Tyr234His) rs864622237
NM_001126112.2(TP53):c.700T>G (p.Tyr234Asp) rs864622237
NM_001126112.2(TP53):c.701A>C (p.Tyr234Ser) rs587780073
NM_001126112.2(TP53):c.701A>G (p.Tyr234Cys) rs587780073
NM_001126112.2(TP53):c.706T>A (p.Tyr236Asn) rs587782289
NM_001126112.2(TP53):c.706T>G (p.Tyr236Asp) rs587782289
NM_001126112.2(TP53):c.707A>G (p.Tyr236Cys) rs730882026
NM_001126112.2(TP53):c.709A>G (p.Met237Val) rs730882004
NM_001126112.2(TP53):c.710T>A (p.Met237Lys) rs765848205
NM_001126112.2(TP53):c.711G>A (p.Met237Ile) rs587782664
NM_001126112.2(TP53):c.712T>C (p.Cys238Arg) rs1057519981
NM_001126112.2(TP53):c.712T>G (p.Cys238Gly) rs1057519981
NM_001126112.2(TP53):c.713G>A (p.Cys238Tyr) rs730882005
NM_001126112.2(TP53):c.713G>C (p.Cys238Ser) rs730882005
NM_001126112.2(TP53):c.713G>T (p.Cys238Phe) rs730882005
NM_001126112.2(TP53):c.715A>G (p.Asn239Asp) rs876660807
NM_001126112.2(TP53):c.716A>C (p.Asn239Thr) rs1057519999
NM_001126112.2(TP53):c.716A>G (p.Asn239Ser) rs1057519999
NM_001126112.2(TP53):c.721T>C (p.Ser241Pro) rs1057520002
NM_001126112.2(TP53):c.721T>G (p.Ser241Ala) rs1057520002
NM_001126112.2(TP53):c.722C>A (p.Ser241Tyr) rs28934573
NM_001126112.2(TP53):c.722C>T (p.Ser241Phe) rs28934573
NM_001126112.2(TP53):c.724T>A (p.Cys242Ser) rs1057519982
NM_001126112.2(TP53):c.724T>G (p.Cys242Gly) rs1057519982
NM_001126112.2(TP53):c.725G>A (p.Cys242Tyr) rs121912655
NM_001126112.2(TP53):c.725G>T (p.Cys242Phe) rs121912655
NM_001126112.2(TP53):c.726C>G (p.Cys242Trp) rs375874539
NM_001126112.2(TP53):c.730G>A (p.Gly244Ser) rs1057519989
NM_001126112.2(TP53):c.730G>C (p.Gly244Arg) rs1057519989
NM_001126112.2(TP53):c.730G>T (p.Gly244Cys) rs1057519989
NM_001126112.2(TP53):c.731G>A (p.Gly244Asp) rs985033810
NM_001126112.2(TP53):c.731G>T (p.Gly244Val) rs985033810
NM_001126112.2(TP53):c.733G>C (p.Gly245Arg) rs28934575
NM_001126112.2(TP53):c.733G>T (p.Gly245Cys) rs28934575
NM_001126112.2(TP53):c.734G>A (p.Gly245Asp) rs121912656
NM_001126112.2(TP53):c.734G>C (p.Gly245Ala) rs121912656
NM_001126112.2(TP53):c.734G>T (p.Gly245Val) rs121912656
NM_001126112.2(TP53):c.742C>G (p.Arg248Gly) rs121912651
NM_001126112.2(TP53):c.743G>C (p.Arg248Pro) rs11540652
NM_001126112.2(TP53):c.743G>T (p.Arg248Leu) rs11540652
NM_001126112.2(TP53):c.745A>G (p.Arg249Gly) rs587782082
NM_001126112.2(TP53):c.745A>T (p.Arg249Trp) rs587782082
NM_001126112.2(TP53):c.746G>A (p.Arg249Lys) rs587782329
NM_001126112.2(TP53):c.746G>C (p.Arg249Thr) rs587782329
NM_001126112.2(TP53):c.746G>T (p.Arg249Met) rs587782329
NM_001126112.2(TP53):c.796G>C (p.Gly266Arg) rs1057519990
NM_001126112.2(TP53):c.797G>T (p.Gly266Val) rs193920774
NM_001126112.2(TP53):c.808T>A (p.Phe270Ile) rs1057519988
NM_001126112.2(TP53):c.808T>G (p.Phe270Val) rs1057519988
NM_001126112.2(TP53):c.809T>C (p.Phe270Ser) rs1057519986
NM_001126112.2(TP53):c.809T>G (p.Phe270Cys) rs1057519986
NM_001126112.2(TP53):c.810T>G (p.Phe270Leu) rs1057519987
NM_001126112.2(TP53):c.814G>A (p.Val272Met) rs121912657
NM_001126112.2(TP53):c.814G>T (p.Val272Leu) rs121912657
NM_001126112.2(TP53):c.815T>A (p.Val272Glu) rs876660333
NM_001126112.2(TP53):c.815T>G (p.Val272Gly) rs876660333
NM_001126112.2(TP53):c.817C>A (p.Arg273Ser) rs121913343
NM_001126112.2(TP53):c.818G>C (p.Arg273Pro) rs28934576
NM_001126112.2(TP53):c.818G>T (p.Arg273Leu) rs28934576
NM_001126112.2(TP53):c.823T>C (p.Cys275Arg) rs1057519983
NM_001126112.2(TP53):c.824G>A (p.Cys275Tyr) rs863224451
NM_001126112.2(TP53):c.824G>C (p.Cys275Ser) rs863224451
NM_001126112.2(TP53):c.824G>T (p.Cys275Phe) rs863224451
NM_001126112.2(TP53):c.832C>A (p.Pro278Thr) rs17849781
NM_001126112.2(TP53):c.832C>G (p.Pro278Ala) rs17849781
NM_001126112.2(TP53):c.832C>T (p.Pro278Ser) rs17849781
NM_001126112.2(TP53):c.833C>A (p.Pro278His) rs876659802
NM_001126112.2(TP53):c.833C>G (p.Pro278Arg) rs876659802
NM_001126112.2(TP53):c.833C>T (p.Pro278Leu) rs876659802
NM_001126112.2(TP53):c.836G>A (p.Gly279Glu) rs1064793881
NM_001126112.2(TP53):c.838A>G (p.Arg280Gly) rs753660142
NM_001126112.2(TP53):c.839G>A (p.Arg280Lys) rs121912660
NM_001126112.2(TP53):c.839G>C (p.Arg280Thr) rs121912660
NM_001126112.2(TP53):c.839G>T (p.Arg280Ile) rs121912660
NM_001126112.2(TP53):c.841G>A (p.Asp281Asn) rs764146326
NM_001126112.2(TP53):c.841G>C (p.Asp281His) rs764146326
NM_001126112.2(TP53):c.841G>T (p.Asp281Tyr) rs764146326
NM_001126112.2(TP53):c.842A>C (p.Asp281Ala) rs587781525
NM_001126112.2(TP53):c.842A>G (p.Asp281Gly) rs587781525
NM_001126112.2(TP53):c.842A>T (p.Asp281Val) rs587781525
NM_001126112.2(TP53):c.843C>G (p.Asp281Glu) rs1057519984
NM_001126112.2(TP53):c.844C>G (p.Arg282Gly) rs28934574
NM_001126112.2(TP53):c.845G>A (p.Arg282Gln) rs730882008
NM_001126112.2(TP53):c.856G>A (p.Glu286Lys) rs786201059
NM_001126112.2(TP53):c.856G>C (p.Glu286Gln) rs786201059
NM_001126112.2(TP53):c.857A>C (p.Glu286Ala) rs1057519985
NM_001126112.2(TP53):c.857A>G (p.Glu286Gly) rs1057519985
NM_001126112.2(TP53):c.857A>T (p.Glu286Val) rs1057519985
NM_001163213.1(FGFR3):c.746C>G (p.Ser249Cys) rs121913483
NM_001289910.1(IDH2):c.262C>T (p.Arg88Trp) rs267606870
NM_001289910.1(IDH2):c.263G>A (p.Arg88Gln) rs121913502
NM_001289910.1(IDH2):c.263G>T (p.Arg88Leu) rs121913502
NM_001304718.2(PTEN):c.-363C>G rs121909224
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_001349798.2(FBXW7):c.1973G>A (p.Arg658Gln) rs759610249
NM_001374258.1(BRAF):c.1517G>T (p.Gly506Val) rs121913351
NM_001374258.1(BRAF):c.1900G>A (p.Asp634Asn) rs397516896
NM_001374258.1(BRAF):c.1901A>G (p.Asp634Gly) rs121913338
NM_001374258.1(BRAF):c.1919T>A (p.Val640Glu) rs113488022
NM_001429.4(EP300):c.4195G>A (p.Asp1399Asn) rs1057519889
NM_001429.4(EP300):c.4195G>T (p.Asp1399Tyr) rs1057519889
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_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_002755.3(MAP2K1):c.170A>C (p.Lys57Thr) rs1057519909
NM_002755.3(MAP2K1):c.171G>C (p.Lys57Asn) rs869025608
NM_003533.2(H3C11):c.82A>G (p.Lys28Glu) rs1057519905
NM_003533.2(H3C11):c.83A>T (p.Lys28Met) rs1057519904
NM_004048.3(B2M):c.1A>G (p.Met1Val) rs1023835002
NM_004048.3(B2M):c.1A>T (p.Met1Leu) rs1023835002
NM_004048.3(B2M):c.2T>C (p.Met1Thr) rs1057519879
NM_004048.3(B2M):c.2T>G (p.Met1Arg) rs1057519879
NM_004048.3(B2M):c.3G>A (p.Met1Ile) rs1057519877
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.1780G>C (p.Asp594His) rs397516896
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_004448.3(ERBB2):c.929C>A (p.Ser310Tyr) rs1057519816
NM_004448.3(ERBB2):c.929C>T (p.Ser310Phe) rs1057519816
NM_005163.2(AKT1):c.49G>A (p.Glu17Lys) rs121434592
NM_005228.5(EGFR):c.2234A>G (p.Lys745Arg) rs121913433
NM_005228.5(EGFR):c.865G>A (p.Ala289Thr) rs769696078
NM_005228.5(EGFR):c.865_866delinsAA (p.Ala289Asn) rs1057519887
NM_005228.5(EGFR):c.865_866delinsAT (p.Ala289Ile) rs1057519887
NM_005228.5(EGFR):c.866C>A (p.Ala289Asp) rs149840192
NM_005228.5(EGFR):c.866C>T (p.Ala289Val) rs149840192
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>T (p.Gly13Val) rs104894226
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_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.1030G>A (p.Val344Met) rs1057519942
NM_006218.4(PIK3CA):c.1031T>C (p.Val344Ala) rs1057519941
NM_006218.4(PIK3CA):c.1031T>G (p.Val344Gly) rs1057519941
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.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_006908.5(RAC1):c.85C>A (p.Pro29Thr) rs1057519874
NM_006908.5(RAC1):c.85C>T (p.Pro29Ser) rs1057519874
NM_006908.5(RAC1):c.86C>T (p.Pro29Leu) rs1057519948
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_030662.3(MAP2K2):c.169T>G (p.Phe57Val) rs121434498
NM_030662.3(MAP2K2):c.171T>G (p.Phe57Leu) rs1057519910
NM_058195.3(CDKN2A):c.194-3470G>T rs1057519882
NM_058195.3(CDKN2A):c.384C>T (p.Ala128=) rs121913386
NM_058197.4(CDKN2A):c.*170C>G rs121913385
NM_058197.4(CDKN2A):c.*171A>G rs1057519881
NM_058197.4(CDKN2A):c.*172C>G rs34968276
NM_058197.4(CDKN2A):c.*263C>A rs104894104
NM_058197.4(CDKN2A):c.*264C>A rs121913386
NM_138957.3(MAPK1):c.964G>A (p.Glu322Lys) rs1057519911
Single allele

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