ClinVar Miner

List of variants reported as likely pathogenic for Neoplasm of the large intestine

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 352
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HGVS dbSNP
NM_000038.6(APC):c.2626C>T (p.Arg876Ter) rs121913333
NM_000038.6(APC):c.3340C>T (p.Arg1114Ter) rs121913331
NM_000038.6(APC):c.3916G>T (p.Glu1306Ter) rs121913462
NM_000038.6(APC):c.4012C>T (p.Gln1338Ter) rs121913327
NM_000038.6(APC):c.4099C>T (p.Gln1367Ter) rs121913328
NM_000038.6(APC):c.4132C>T (p.Gln1378Ter) rs121913329
NM_000038.6(APC):c.4135G>T (p.Glu1379Ter) rs121913326
NM_000038.6(APC):c.4285C>T (p.Gln1429Ter) rs74535574
NM_000038.6(APC):c.4348C>T (p.Arg1450Ter) rs121913332
NM_000077.4(CDKN2A):c.149A>G (p.Gln50Arg) rs587778189
NM_000077.4(CDKN2A):c.150G>T (p.Gln50His) rs1057519882
NM_000077.4(CDKN2A):c.239G>A (p.Arg80Gln) rs1057519883
NM_000314.7(PTEN):c.388C>G (p.Arg130Gly) rs121909224
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_000314.7(PTEN):c.698G>A (p.Arg233Gln) rs770025422
NM_000546.5(TP53):c.373A>C (p.Thr125Pro) rs1057520003
NM_000546.5(TP53):c.374C>A (p.Thr125Lys) rs786201057
NM_000546.5(TP53):c.374C>G (p.Thr125Arg) rs786201057
NM_000546.5(TP53):c.374C>T (p.Thr125Met) rs786201057
NM_000546.5(TP53):c.394A>C (p.Lys132Gln) rs747342068
NM_000546.5(TP53):c.394A>G (p.Lys132Glu) rs747342068
NM_000546.5(TP53):c.395A>C (p.Lys132Thr) rs1057519996
NM_000546.5(TP53):c.395A>G (p.Lys132Arg) rs1057519996
NM_000546.5(TP53):c.395A>T (p.Lys132Met) rs1057519996
NM_000546.5(TP53):c.396G>C (p.Lys132Asn) rs866775781
NM_000546.5(TP53):c.403T>A (p.Cys135Ser) rs1057519975
NM_000546.5(TP53):c.403T>C (p.Cys135Arg) rs1057519975
NM_000546.5(TP53):c.403T>G (p.Cys135Gly) rs1057519975
NM_000546.5(TP53):c.404G>A (p.Cys135Tyr) rs587781991
NM_000546.5(TP53):c.404G>T (p.Cys135Phe) rs587781991
NM_000546.5(TP53):c.405C>G (p.Cys135Trp) rs1057519976
NM_000546.5(TP53):c.421T>A (p.Cys141Ser) rs1057519978
NM_000546.5(TP53):c.421T>C (p.Cys141Arg) rs1057519978
NM_000546.5(TP53):c.421T>G (p.Cys141Gly) rs1057519978
NM_000546.5(TP53):c.422G>A (p.Cys141Tyr) rs587781288
NM_000546.5(TP53):c.422G>T (p.Cys141Phe) rs587781288
NM_000546.5(TP53):c.423C>G (p.Cys141Trp) rs1057519977
NM_000546.5(TP53):c.451C>A (p.Pro151Thr) rs28934874
NM_000546.5(TP53):c.451C>G (p.Pro151Ala) rs28934874
NM_000546.5(TP53):c.451C>T (p.Pro151Ser) rs28934874
NM_000546.5(TP53):c.452C>A (p.Pro151His) rs1057520000
NM_000546.5(TP53):c.452C>G (p.Pro151Arg) rs1057520000
NM_000546.5(TP53):c.487T>A (p.Tyr163Asn) rs786203436
NM_000546.5(TP53):c.487T>C (p.Tyr163His) rs786203436
NM_000546.5(TP53):c.487T>G (p.Tyr163Asp) rs786203436
NM_000546.5(TP53):c.488A>G (p.Tyr163Cys) rs148924904
NM_000546.5(TP53):c.517G>A (p.Val173Met) rs876660754
NM_000546.5(TP53):c.517G>T (p.Val173Leu) rs876660754
NM_000546.5(TP53):c.518T>A (p.Val173Glu) rs1057519747
NM_000546.5(TP53):c.518T>C (p.Val173Ala) rs1057519747
NM_000546.5(TP53):c.518T>G (p.Val173Gly) rs1057519747
NM_000546.5(TP53):c.523C>G (p.Arg175Gly) rs138729528
NM_000546.5(TP53):c.523C>T (p.Arg175Cys) rs138729528
NM_000546.5(TP53):c.526T>A (p.Cys176Ser) rs967461896
NM_000546.5(TP53):c.526T>C (p.Cys176Arg) rs967461896
NM_000546.5(TP53):c.526T>G (p.Cys176Gly) rs967461896
NM_000546.5(TP53):c.527G>A (p.Cys176Tyr) rs786202962
NM_000546.5(TP53):c.527G>T (p.Cys176Phe) rs786202962
NM_000546.5(TP53):c.528C>G (p.Cys176Trp) rs1057519980
NM_000546.5(TP53):c.535C>A (p.His179Asn) rs587780070
NM_000546.5(TP53):c.535C>G (p.His179Asp) rs587780070
NM_000546.5(TP53):c.535C>T (p.His179Tyr) rs587780070
NM_000546.5(TP53):c.536A>C (p.His179Pro) rs1057519991
NM_000546.5(TP53):c.536A>G (p.His179Arg) rs1057519991
NM_000546.5(TP53):c.536A>T (p.His179Leu) rs1057519991
NM_000546.5(TP53):c.537T>G (p.His179Gln) rs876660821
NM_000546.5(TP53):c.577C>A (p.His193Asn) rs876658468
NM_000546.5(TP53):c.577C>G (p.His193Asp) rs876658468
NM_000546.5(TP53):c.577C>T (p.His193Tyr) rs876658468
NM_000546.5(TP53):c.578A>C (p.His193Pro) rs786201838
NM_000546.5(TP53):c.578A>G (p.His193Arg) rs786201838
NM_000546.5(TP53):c.578A>T (p.His193Leu) rs786201838
NM_000546.5(TP53):c.580C>T (p.Leu194Phe) rs587780071
NM_000546.5(TP53):c.581T>A (p.Leu194His) rs1057519998
NM_000546.5(TP53):c.581T>C (p.Leu194Pro) rs1057519998
NM_000546.5(TP53):c.581T>G (p.Leu194Arg) rs1057519998
NM_000546.5(TP53):c.583A>T (p.Ile195Phe) rs942158624
NM_000546.5(TP53):c.584T>A (p.Ile195Asn) rs760043106
NM_000546.5(TP53):c.584T>C (p.Ile195Thr) rs760043106
NM_000546.5(TP53):c.584T>G (p.Ile195Ser) rs760043106
NM_000546.5(TP53):c.585C>G (p.Ile195Met) rs1057519994
NM_000546.5(TP53):c.587G>C (p.Arg196Pro) rs483352697
NM_000546.5(TP53):c.613T>A (p.Tyr205Asn) rs1057520008
NM_000546.5(TP53):c.613T>C (p.Tyr205His) rs1057520008
NM_000546.5(TP53):c.613T>G (p.Tyr205Asp) rs1057520008
NM_000546.5(TP53):c.614A>C (p.Tyr205Ser) rs1057520007
NM_000546.5(TP53):c.614A>G (p.Tyr205Cys) rs1057520007
NM_000546.5(TP53):c.614A>T (p.Tyr205Phe) rs1057520007
NM_000546.5(TP53):c.637C>G (p.Arg213Gly) rs397516436
NM_000546.5(TP53):c.638G>A (p.Arg213Gln) rs587778720
NM_000546.5(TP53):c.638G>C (p.Arg213Pro) rs587778720
NM_000546.5(TP53):c.638G>T (p.Arg213Leu) rs587778720
NM_000546.5(TP53):c.641A>G (p.His214Arg) rs1057519992
NM_000546.5(TP53):c.641A>T (p.His214Leu) rs1057519992
NM_000546.5(TP53):c.658T>A (p.Tyr220Asn) rs530941076
NM_000546.5(TP53):c.658T>C (p.Tyr220His) rs530941076
NM_000546.5(TP53):c.658T>G (p.Tyr220Asp) rs530941076
NM_000546.5(TP53):c.659A>C (p.Tyr220Ser) rs121912666
NM_000546.5(TP53):c.659A>G (p.Tyr220Cys) rs121912666
NM_000546.5(TP53):c.700T>A (p.Tyr234Asn) rs864622237
NM_000546.5(TP53):c.700T>C (p.Tyr234His) rs864622237
NM_000546.5(TP53):c.700T>G (p.Tyr234Asp) rs864622237
NM_000546.5(TP53):c.701A>C (p.Tyr234Ser) rs587780073
NM_000546.5(TP53):c.701A>G (p.Tyr234Cys) rs587780073
NM_000546.5(TP53):c.706T>A (p.Tyr236Asn) rs587782289
NM_000546.5(TP53):c.706T>G (p.Tyr236Asp) rs587782289
NM_000546.5(TP53):c.707A>G (p.Tyr236Cys) rs730882026
NM_000546.5(TP53):c.709A>G (p.Met237Val) rs730882004
NM_000546.5(TP53):c.710T>A (p.Met237Lys) rs765848205
NM_000546.5(TP53):c.711G>A (p.Met237Ile) rs587782664
NM_000546.5(TP53):c.712T>C (p.Cys238Arg) rs1057519981
NM_000546.5(TP53):c.712T>G (p.Cys238Gly) rs1057519981
NM_000546.5(TP53):c.713G>A (p.Cys238Tyr) rs730882005
NM_000546.5(TP53):c.713G>C (p.Cys238Ser) rs730882005
NM_000546.5(TP53):c.713G>T (p.Cys238Phe) rs730882005
NM_000546.5(TP53):c.715A>G (p.Asn239Asp) rs876660807
NM_000546.5(TP53):c.716A>C (p.Asn239Thr) rs1057519999
NM_000546.5(TP53):c.716A>G (p.Asn239Ser) rs1057519999
NM_000546.5(TP53):c.721T>C (p.Ser241Pro) rs1057520002
NM_000546.5(TP53):c.721T>G (p.Ser241Ala) rs1057520002
NM_000546.5(TP53):c.722C>A (p.Ser241Tyr) rs28934573
NM_000546.5(TP53):c.722C>G (p.Ser241Cys) rs28934573
NM_000546.5(TP53):c.722C>T (p.Ser241Phe) rs28934573
NM_000546.5(TP53):c.730G>A (p.Gly244Ser) rs1057519989
NM_000546.5(TP53):c.730G>C (p.Gly244Arg) rs1057519989
NM_000546.5(TP53):c.730G>T (p.Gly244Cys) rs1057519989
NM_000546.5(TP53):c.731G>A (p.Gly244Asp) rs985033810
NM_000546.5(TP53):c.731G>T (p.Gly244Val) rs985033810
NM_000546.5(TP53):c.733G>A (p.Gly245Ser) rs28934575
NM_000546.5(TP53):c.733G>C (p.Gly245Arg) rs28934575
NM_000546.5(TP53):c.733G>T (p.Gly245Cys) rs28934575
NM_000546.5(TP53):c.734G>A (p.Gly245Asp) rs121912656
NM_000546.5(TP53):c.734G>C (p.Gly245Ala) rs121912656
NM_000546.5(TP53):c.734G>T (p.Gly245Val) rs121912656
NM_000546.5(TP53):c.742C>G (p.Arg248Gly) rs121912651
NM_000546.5(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.5(TP53):c.743G>A (p.Arg248Gln) rs11540652
NM_000546.5(TP53):c.743G>C (p.Arg248Pro) rs11540652
NM_000546.5(TP53):c.743G>T (p.Arg248Leu) rs11540652
NM_000546.5(TP53):c.796G>C (p.Gly266Arg) rs1057519990
NM_000546.5(TP53):c.797G>A (p.Gly266Glu) rs193920774
NM_000546.5(TP53):c.797G>T (p.Gly266Val) rs193920774
NM_000546.5(TP53):c.814G>A (p.Val272Met) rs121912657
NM_000546.5(TP53):c.814G>T (p.Val272Leu) rs121912657
NM_000546.5(TP53):c.815T>A (p.Val272Glu) rs876660333
NM_000546.5(TP53):c.815T>G (p.Val272Gly) rs876660333
NM_000546.5(TP53):c.817C>A (p.Arg273Ser) rs121913343
NM_000546.5(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.5(TP53):c.818G>C (p.Arg273Pro) rs28934576
NM_000546.5(TP53):c.818G>T (p.Arg273Leu) rs28934576
NM_000546.5(TP53):c.820G>C (p.Val274Leu) rs1057520005
NM_000546.5(TP53):c.820G>T (p.Val274Phe) rs1057520005
NM_000546.5(TP53):c.821T>A (p.Val274Asp) rs1057520006
NM_000546.5(TP53):c.821T>C (p.Val274Ala) rs1057520006
NM_000546.5(TP53):c.821T>G (p.Val274Gly) rs1057520006
NM_000546.5(TP53):c.823T>C (p.Cys275Arg) rs1057519983
NM_000546.5(TP53):c.824G>A (p.Cys275Tyr) rs863224451
NM_000546.5(TP53):c.824G>C (p.Cys275Ser) rs863224451
NM_000546.5(TP53):c.824G>T (p.Cys275Phe) rs863224451
NM_000546.5(TP53):c.832C>A (p.Pro278Thr) rs17849781
NM_000546.5(TP53):c.832C>G (p.Pro278Ala) rs17849781
NM_000546.5(TP53):c.832C>T (p.Pro278Ser) rs17849781
NM_000546.5(TP53):c.833C>A (p.Pro278His) rs876659802
NM_000546.5(TP53):c.833C>G (p.Pro278Arg) rs876659802
NM_000546.5(TP53):c.833C>T (p.Pro278Leu) rs876659802
NM_000546.5(TP53):c.844C>G (p.Arg282Gly) rs28934574
NM_000546.5(TP53):c.844C>T (p.Arg282Trp) rs28934574
NM_000546.5(TP53):c.845G>A (p.Arg282Gln) rs730882008
NM_000546.5(TP53):c.845G>C (p.Arg282Pro) rs730882008
NM_000546.5(TP53):c.856G>A (p.Glu286Lys) rs786201059
NM_000546.5(TP53):c.856G>C (p.Glu286Gln) rs786201059
NM_000546.5(TP53):c.857A>C (p.Glu286Ala) rs1057519985
NM_000546.5(TP53):c.857A>G (p.Glu286Gly) rs1057519985
NM_000546.5(TP53):c.857A>T (p.Glu286Val) rs1057519985
NM_000546.5(TP53):c.916C>T (p.Arg306Ter) rs121913344
NM_001077488.4(GNAS):c.604C>T (p.Arg202Cys) rs11554273
NM_001077488.4(GNAS):c.605G>A (p.Arg202His) rs121913495
NM_001077488.4(GNAS):c.605G>T (p.Arg202Leu) rs121913495
NM_001079846.1(CREBBP):c.4222C>G (p.Arg1408Gly) rs398124146
NM_001079846.1(CREBBP):c.4222C>T (p.Arg1408Cys) rs398124146
NM_001079846.1(CREBBP):c.4223G>A (p.Arg1408His) rs1057519884
NM_001079846.1(CREBBP):c.4223G>T (p.Arg1408Leu) rs1057519884
NM_001626.6(AKT2):c.904A>G (p.Ser302Gly) rs1057519754
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_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.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_001982.3(ERBB3):c.310G>A (p.Val104Met) rs1057519893
NM_001982.3(ERBB3):c.310G>T (p.Val104Leu) rs1057519893
NM_002168.3(IDH2):c.418C>T (p.Arg140Trp) rs267606870
NM_002168.3(IDH2):c.419G>A (p.Arg140Gln) rs121913502
NM_002168.3(IDH2):c.419G>T (p.Arg140Leu) rs121913502
NM_002168.3(IDH2):c.514A>G (p.Arg172Gly) rs1057519906
NM_002168.3(IDH2):c.514A>T (p.Arg172Trp) rs1057519906
NM_002168.3(IDH2):c.515G>A (p.Arg172Lys) rs121913503
NM_002168.3(IDH2):c.515G>T (p.Arg172Met) rs121913503
NM_002524.5(NRAS):c.182A>C (p.Gln61Pro) 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>C (p.Gly12Arg) rs121913250
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_002755.3(MAP2K1):c.157T>A (p.Phe53Ile) rs1057519728
NM_002755.3(MAP2K1):c.157T>G (p.Phe53Val) rs1057519728
NM_002755.3(MAP2K1):c.159T>G (p.Phe53Leu) rs1057519908
NM_002755.3(MAP2K1):c.370C>T (p.Pro124Ser) rs1057519732
NM_002755.3(MAP2K1):c.371C>A (p.Pro124Gln) rs397516792
NM_002755.3(MAP2K1):c.371C>T (p.Pro124Leu) rs397516792
NM_002834.4(PTPN11):c.1508G>T (p.Gly503Val) rs397507546
NM_002834.4(PTPN11):c.226G>A (p.Glu76Lys) rs121918464
NM_002834.4(PTPN11):c.227A>C (p.Glu76Ala) rs121918465
NM_002834.4(PTPN11):c.227A>G (p.Glu76Gly) rs121918465
NM_002880.3(RAF1):c.770C>G (p.Ser257Trp) rs80338796
NM_002880.3(RAF1):c.770C>T (p.Ser257Leu) rs80338796
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_004048.3(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.1405G>C (p.Gly469Arg) rs121913357
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_004442.7(EPHB2):c.2359G>A (p.Gly787Arg) rs138551214
NM_004448.3(ERBB2):c.2033G>A (p.Arg678Gln) rs1057519862
NM_004448.3(ERBB2):c.2263T>A (p.Leu755Met) rs1057519890
NM_004448.3(ERBB2):c.2263_2264delinsCC (p.Leu755Pro) rs121913469
NM_004448.3(ERBB2):c.2264T>C (p.Leu755Ser) rs121913470
NM_004448.3(ERBB2):c.2264T>G (p.Leu755Trp) rs121913470
NM_004448.3(ERBB2):c.2329G>A (p.Val777Met) rs121913471
NM_004448.3(ERBB2):c.2329G>T (p.Val777Leu) rs121913471
NM_004448.3(ERBB2):c.2524G>A (p.Val842Ile) rs1057519738
NM_004448.3(ERBB2):c.929C>A (p.Ser310Tyr) rs1057519816
NM_004448.3(ERBB2):c.929C>T (p.Ser310Phe) rs1057519816
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_004985.5(KRAS):c.175G>A (p.Ala59Thr) rs121913528
NM_004985.5(KRAS):c.181C>G (p.Gln61Glu) rs121913238
NM_004985.5(KRAS):c.182A>C (p.Gln61Pro) rs121913240
NM_004985.5(KRAS):c.64C>A (p.Gln22Lys) rs121913236
NM_005228.5(EGFR):c.1474A>G (p.Ser492Gly) rs1057519760
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.34G>A (p.Gly12Ser) rs104894229
NM_005343.4(HRAS):c.34G>C (p.Gly12Arg) 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>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_005359.5(SMAD4):c.1081C>G (p.Arg361Gly) rs80338963
NM_005359.5(SMAD4):c.1082G>C (p.Arg361Pro) rs377767347
NM_005359.5(SMAD4):c.1156G>A (p.Gly386Ser) rs1057519962
NM_005359.5(SMAD4):c.1156G>T (p.Gly386Cys) rs1057519962
NM_005359.5(SMAD4):c.1157G>A (p.Gly386Asp) rs121912580
NM_005359.5(SMAD4):c.1157G>C (p.Gly386Ala) rs121912580
NM_005359.5(SMAD4):c.1157G>T (p.Gly386Val) rs121912580
NM_005896.3(IDH1):c.394C>A (p.Arg132Ser) rs121913499
NM_005896.3(IDH1):c.394C>G (p.Arg132Gly) rs121913499
NM_005896.3(IDH1):c.394C>T (p.Arg132Cys) rs121913499
NM_005896.3(IDH1):c.395G>A (p.Arg132His) rs121913500
NM_005896.3(IDH1):c.395G>T (p.Arg132Leu) rs121913500
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.1035T>G (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.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.1635G>T (p.Glu545Asp) rs121913275
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.3129G>T (p.Met1043Ile) rs121913283
NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) rs121913281
NM_006218.4(PIK3CA):c.3141T>G (p.His1047Gln) rs1057519932
NM_006218.4(PIK3CA):c.3145G>A (p.Gly1049Ser) rs121913277
NM_006218.4(PIK3CA):c.316G>C (p.Gly106Arg) rs1057519931
NM_006218.4(PIK3CA):c.317G>T (p.Gly106Val) rs1057519930
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_006231.3(POLE):c.1231G>T (p.Val411Leu) rs1057519945
NM_006231.3(POLE):c.856C>T (p.Pro286Ser) rs1057519944
NM_006231.3(POLE):c.857C>A (p.Pro286His) rs1057519943
NM_006231.3(POLE):c.857C>G (p.Pro286Arg) rs1057519943
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_018315.5(FBXW7):c.1153C>G (p.Arg385Gly) rs867384286
NM_018315.5(FBXW7):c.1153C>T (p.Arg385Cys) rs867384286
NM_018315.5(FBXW7):c.1154G>A (p.Arg385His) rs1057519895
NM_018315.5(FBXW7):c.1154G>C (p.Arg385Pro) rs1057519895
NM_018315.5(FBXW7):c.1154G>T (p.Arg385Leu) rs1057519895
NM_018315.5(FBXW7):c.1195C>G (p.Arg399Gly) rs747241612
NM_018315.5(FBXW7):c.1196G>A (p.Arg399Gln) rs866987936
NM_018315.5(FBXW7):c.1196G>C (p.Arg399Pro) rs866987936
NM_018315.5(FBXW7):c.1196G>T (p.Arg399Leu) rs866987936
NM_018315.5(FBXW7):c.1273C>A (p.Arg425Ser) rs149680468
NM_018315.5(FBXW7):c.1273C>G (p.Arg425Gly) rs149680468
NM_018315.5(FBXW7):c.1273C>T (p.Arg425Cys) rs149680468
NM_018315.5(FBXW7):c.1274G>A (p.Arg425His) rs1057519896
NM_018315.5(FBXW7):c.1274G>T (p.Arg425Leu) rs1057519896
NM_018315.5(FBXW7):c.1733G>A (p.Arg578Gln) rs759610249
NM_181523.3(PIK3R1):c.1690A>G (p.Asn564Asp) rs1057519841

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