ClinVar Miner

List of variants reported as likely pathogenic for central nervous system cancer

Included ClinVar conditions (49):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 582
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HGVS dbSNP gnomAD frequency
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter) rs142441643 0.00025
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_004168.4(SDHA):c.1A>G (p.Met1Val) rs1061517 0.00013
NM_004168.4(SDHA):c.1534C>T (p.Arg512Ter) rs748089700 0.00005
NM_003000.3(SDHB):c.269G>A (p.Arg90Gln) rs570278423 0.00004
NM_004168.4(SDHA):c.1663+3G>C rs751904543 0.00004
NM_004168.4(SDHA):c.563G>A (p.Arg188Gln) rs139881415 0.00004
NM_032043.3(BRIP1):c.1045G>C (p.Ala349Pro) rs149364097 0.00004
NM_003000.3(SDHB):c.418G>T (p.Val140Phe) rs267607032 0.00003
NM_003000.3(SDHB):c.650G>A (p.Arg217His) rs747518441 0.00003
NM_004168.4(SDHA):c.1741G>A (p.Gly581Arg) rs771111180 0.00003
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652 0.00002
NM_004168.4(SDHA):c.1765C>T (p.Arg589Trp) rs387906780 0.00002
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys) rs80359013 0.00001
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp) rs80359075 0.00001
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) rs121909224 0.00001
NM_000314.8(PTEN):c.517C>T (p.Arg173Cys) rs121913293 0.00001
NM_000314.8(PTEN):c.518G>A (p.Arg173His) rs121913294 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.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.725G>A (p.Cys242Tyr) rs121912655 0.00001
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) rs28934575 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_001349798.2(FBXW7):c.1973G>A (p.Arg658Gln) rs759610249 0.00001
NM_003000.3(SDHB):c.137G>A (p.Arg46Gln) rs772551056 0.00001
NM_003000.3(SDHB):c.143A>T (p.Asp48Val) rs202101384 0.00001
NM_003000.3(SDHB):c.221A>C (p.Asp74Ala) rs876658713 0.00001
NM_003000.3(SDHB):c.286G>A (p.Gly96Ser) rs587782243 0.00001
NM_003000.3(SDHB):c.287G>A (p.Gly96Asp) rs778952116 0.00001
NM_003000.3(SDHB):c.380T>G (p.Ile127Ser) rs786201095 0.00001
NM_003000.3(SDHB):c.649C>T (p.Arg217Cys) rs200245469 0.00001
NM_003000.3(SDHB):c.688C>T (p.Arg230Cys) rs138996609 0.00001
NM_003000.3(SDHB):c.689G>A (p.Arg230His) rs587782604 0.00001
NM_003000.3(SDHB):c.725G>A (p.Arg242His) rs74315368 0.00001
NM_003000.3(SDHB):c.744C>G (p.Asn248Lys) rs1131691058 0.00001
NM_004168.4(SDHA):c.1432_1432+1del rs878854627 0.00001
NM_004168.4(SDHA):c.150+1G>A rs1057523165 0.00001
NM_004168.4(SDHA):c.1660C>T (p.Arg554Trp) rs9809219 0.00001
NM_004168.4(SDHA):c.1663+1G>T rs766667009 0.00001
NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp) rs200397144 0.00001
NM_004168.4(SDHA):c.1754G>A (p.Arg585Gln) rs752360961 0.00001
NM_004168.4(SDHA):c.1885dup (p.Tyr629fs) rs750865703 0.00001
NM_004168.4(SDHA):c.1909-2A>G rs747939816 0.00001
NM_004168.4(SDHA):c.562C>T (p.Arg188Trp) rs553257776 0.00001
NM_004168.4(SDHA):c.778G>A (p.Gly260Arg) rs940845256 0.00001
NM_004168.4(SDHA):c.818C>T (p.Thr273Ile) rs587781720 0.00001
NM_004168.4(SDHA):c.923C>T (p.Thr308Met) rs1457666982 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_017841.4(SDHAF2):c.260+3A>G rs1445986287 0.00001
NM_017841.4(SDHAF2):c.37-1G>C rs761956866 0.00001
NM_017841.4(SDHAF2):c.371-2A>G rs375280597 0.00001
NM_022552.5(DNMT3A):c.2710C>T (p.Pro904Ser) rs1558650888 0.00001
NC_000001.10:g.(?_17349093)_(17350579_?)del
NC_000001.10:g.(?_17349097)_(17359646_?)dup
NC_000001.10:g.(?_17354234)_(17359650_?)dup
NC_000001.10:g.(?_17356590)_(17359633_?)del
NC_000001.10:g.(?_17359545)_(17359650_?)dup
NC_000001.10:g.(?_17371236)_(17371403_?)dup
NC_000001.10:g.(?_17371256)_(17371383_?)dup
NC_000019.9:g.(?_11168921)_(11169575_?)dup
NM_000051.4(ATM):c.8535G>A (p.Trp2845Ter) rs1555138291
NM_000059.4(BRCA2):c.-39-1_-39del rs758732038
NM_000059.4(BRCA2):c.15del (p.Glu7fs) rs1064795072
NM_000059.4(BRCA2):c.1889del (p.Thr630fs) rs80359315
NM_000059.4(BRCA2):c.2279del (p.Leu760fs) rs886038071
NM_000059.4(BRCA2):c.3222dup (p.Ser1075Ter)
NM_000059.4(BRCA2):c.3722_3723insA (p.Phe1241fs)
NM_000059.4(BRCA2):c.4851dup (p.Asp1618Ter)
NM_000059.4(BRCA2):c.574_575del (p.Met192fs) rs80359533
NM_000059.4(BRCA2):c.6787delinsTT (p.Val2263fs)
NM_000059.4(BRCA2):c.8165C>T (p.Thr2722Ile) rs80359062
NM_000059.4(BRCA2):c.9010_9013del (p.Lys3004fs)
NM_000059.4(BRCA2):c.9599C>G (p.Ser3200Ter) rs80359230
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
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_000546.6(TP53):c.1140del (p.His380fs) rs1555524108
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.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.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.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.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.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.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.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.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.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.811G>A (p.Glu271Lys) rs1060501191
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.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_001042492.3(NF1):c.8161-2A>G
NM_001111067.4(ACVR1):c.772A>G (p.Arg258Gly) rs863224846
NM_001111067.4(ACVR1):c.773G>T (p.Arg258Met) rs1057519875
NM_001111067.4(ACVR1):c.983G>A (p.Gly328Glu) rs387906589
NM_001111067.4(ACVR1):c.983G>T (p.Gly328Val) rs387906589
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_001386298.1(CIC):c.3017_3018insT (p.Gly1008fs) rs1568503055
NM_001386298.1(CIC):c.3370C>T (p.Arg1124Trp) rs1568504941
NM_001904.4(CTNNB1):c.133T>G (p.Ser45Ala) rs121913407
NM_001904.4(CTNNB1):c.98C>G (p.Ser33Cys) rs121913400
NM_002107.7(H3-3A):c.100G>C (p.Gly34Arg) rs1057519902
NM_002107.7(H3-3A):c.83A>T (p.Lys28Met) rs1057519903
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_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_002834.5(PTPN11):c.214G>A (p.Ala72Thr) rs121918453
NM_002834.5(PTPN11):c.215C>A (p.Ala72Asp) rs121918454
NM_002834.5(PTPN11):c.215C>T (p.Ala72Val) rs121918454
NM_003000.2(SDHB):c.201-?_765+?dup
NM_003000.3(SDHB):c.120G>C (p.Lys40Asn) rs1570958090
NM_003000.3(SDHB):c.127G>C (p.Ala43Pro)
NM_003000.3(SDHB):c.137G>T (p.Arg46Leu) rs772551056
NM_003000.3(SDHB):c.200+5G>T rs1553178726
NM_003000.3(SDHB):c.203G>A (p.Cys68Tyr) rs587782904
NM_003000.3(SDHB):c.206G>T (p.Gly69Val) rs2101529108
NM_003000.3(SDHB):c.221A>G (p.Asp74Gly)
NM_003000.3(SDHB):c.258_260dup (p.Thr86_Leu87insPhe) rs2101528919
NM_003000.3(SDHB):c.260T>C (p.Leu87Ser) rs727504457
NM_003000.3(SDHB):c.269G>T (p.Arg90Leu) rs570278423
NM_003000.3(SDHB):c.277T>C (p.Cys93Arg) rs727503415
NM_003000.3(SDHB):c.278G>A (p.Cys93Tyr)
NM_003000.3(SDHB):c.286G>T (p.Gly96Cys) rs587782243
NM_003000.3(SDHB):c.287-10_295del
NM_003000.3(SDHB):c.289A>T (p.Ile97Phe) rs1553177769
NM_003000.3(SDHB):c.293G>A (p.Cys98Tyr) rs1553177768
NM_003000.3(SDHB):c.296G>A (p.Gly99Asp) rs878854576
NM_003000.3(SDHB):c.412G>T (p.Asp138Tyr) rs786203529
NM_003000.3(SDHB):c.424-79_424-2del
NM_003000.3(SDHB):c.540+1G>A rs1553177667
NM_003000.3(SDHB):c.540_540+13del rs1553177666
NM_003000.3(SDHB):c.566G>A (p.Cys189Tyr)
NM_003000.3(SDHB):c.567T>G (p.Cys189Trp) rs2101516550
NM_003000.3(SDHB):c.572G>A (p.Cys191Tyr) rs2077978456
NM_003000.3(SDHB):c.586T>C (p.Cys196Arg) rs2101516484
NM_003000.3(SDHB):c.589C>T (p.Pro197Ser) rs2077978300
NM_003000.3(SDHB):c.590C>G (p.Pro197Arg) rs74315367
NM_003000.3(SDHB):c.598T>C (p.Trp200Arg) rs1557739966
NM_003000.3(SDHB):c.598dup (p.Trp200fs) rs2101516417
NM_003000.3(SDHB):c.600G>A (p.Trp200Ter) rs397516836
NM_003000.3(SDHB):c.640C>T (p.Gln214Ter) rs876658461
NM_003000.3(SDHB):c.641A>G (p.Gln214Arg) rs781590955
NM_003000.3(SDHB):c.642_642+6del rs876660368
NM_003000.3(SDHB):c.643-1G>A rs1553177292
NM_003000.3(SDHB):c.650G>T (p.Arg217Leu) rs747518441
NM_003000.3(SDHB):c.72+2T>G
NM_003000.3(SDHB):c.724C>T (p.Arg242Cys) rs786203251
NM_003000.3(SDHB):c.729C>G (p.Cys243Trp) rs2101513669
NM_003000.3(SDHB):c.73-1G>A rs1131691055
NM_003000.3(SDHB):c.73-1G>T rs1131691055
NM_003000.3(SDHB):c.73-2A>C
NM_003000.3(SDHB):c.73-2A>T rs1474282888
NM_003000.3(SDHB):c.756_765+4del rs1553177267
NM_003000.3(SDHB):c.765+1G>A rs2101513511
NM_003000.3(SDHB):c.774_778del (p.Asn258fs)
NM_003000.3(SDHB):c.780dup (p.Lys261fs) rs1557738304
NM_003000.3(SDHB):c.784_787dup (p.Ile263fs) rs1553176976
NM_003000.3(SDHB):c.785_786insG (p.Ile263fs) rs1553176979
NM_003072.5(SMARCA4):c.1064del (p.Ile355fs)
NM_003072.5(SMARCA4):c.1101_1119-550del rs2086204386
NM_003072.5(SMARCA4):c.1119-2A>C rs1568430280
NM_003072.5(SMARCA4):c.1245+1G>A
NM_003072.5(SMARCA4):c.1408C>T (p.Gln470Ter) rs1555757738
NM_003072.5(SMARCA4):c.1752_1755del (p.Lys585fs) rs2087041072
NM_003072.5(SMARCA4):c.1757_1760del (p.Lys586fs) rs1342399494
NM_003072.5(SMARCA4):c.1813-1G>C
NM_003072.5(SMARCA4):c.1943+1G>A rs2087817491
NM_003072.5(SMARCA4):c.1947_2001+3del
NM_003072.5(SMARCA4):c.2002-1G>A rs2146189762
NM_003072.5(SMARCA4):c.2002-2A>G rs1568462513
NM_003072.5(SMARCA4):c.2062A>T (p.Lys688Ter)
NM_003072.5(SMARCA4):c.2124-2A>G rs2088710706
NM_003072.5(SMARCA4):c.2194T>C (p.Tyr732His)
NM_003072.5(SMARCA4):c.2195A>G (p.Tyr732Cys)
NM_003072.5(SMARCA4):c.2263A>G (p.Lys755Glu) rs2146238910
NM_003072.5(SMARCA4):c.2274+1G>C rs867740591
NM_003072.5(SMARCA4):c.2274+1G>T
NM_003072.5(SMARCA4):c.229G>T (p.Glu77Ter) rs1568419675
NM_003072.5(SMARCA4):c.2303T>C (p.Leu768Pro)
NM_003072.5(SMARCA4):c.2350G>T (p.Gly784Trp) rs2146279050
NM_003072.5(SMARCA4):c.2438+1G>A rs1555774786
NM_003072.5(SMARCA4):c.2503_2505+6del
NM_003072.5(SMARCA4):c.2617-1G>A rs1600277713
NM_003072.5(SMARCA4):c.2681C>G (p.Thr894Arg)
NM_003072.5(SMARCA4):c.2837C>G (p.Pro946Arg) rs1555778830
NM_003072.5(SMARCA4):c.2852G>C (p.Gly951Ala)
NM_003072.5(SMARCA4):c.2860-1G>A rs1060502102
NM_003072.5(SMARCA4):c.2860-2A>G rs2146451944
NM_003072.5(SMARCA4):c.2936G>A (p.Arg979Gln)
NM_003072.5(SMARCA4):c.2974-2A>G rs2146471651
NM_003072.5(SMARCA4):c.3081+1G>T rs1600301361
NM_003072.5(SMARCA4):c.3095C>A (p.Thr1032Asn)
NM_003072.5(SMARCA4):c.3216-1G>T rs1568498107
NM_003072.5(SMARCA4):c.3422_3427delinsTCTTCT (p.Thr1141_Asn1143delinsIlePheTyr) rs2074872521
NM_003072.5(SMARCA4):c.3440_3441del (p.Gly1146_Ser1147insTer)
NM_003072.5(SMARCA4):c.3469C>T (p.Arg1157Trp)
NM_003072.5(SMARCA4):c.3546+1G>A rs2146603666
NM_003072.5(SMARCA4):c.3546+2T>C
NM_003072.5(SMARCA4):c.3557C>T (p.Ala1186Val) rs1600388982
NM_003072.5(SMARCA4):c.356-2A>G
NM_003072.5(SMARCA4):c.3774+2T>A rs1475054297
NM_003072.5(SMARCA4):c.3774+2T>C rs1475054297
NM_003072.5(SMARCA4):c.3774+2T>G
NM_003072.5(SMARCA4):c.3951+2T>C rs1555785056
NM_003072.5(SMARCA4):c.3952-1G>A rs1600405252
NM_003072.5(SMARCA4):c.3952-2A>G rs1308562238
NM_003072.5(SMARCA4):c.4220del (p.Lys1407fs)
NM_003072.5(SMARCA4):c.4471C>T (p.Arg1491Ter) rs758517117
NM_003072.5(SMARCA4):c.4636-1G>A rs1290351732
NM_003072.5(SMARCA4):c.4769-2A>G
NM_003072.5(SMARCA4):c.761-2A>T rs1479379455
NM_003072.5(SMARCA4):c.859+1G>T rs2145798387
NM_003072.5(SMARCA4):c.87_222+48del rs2145722767
NM_003533.3(H3C11):c.82A>G (p.Lys28Glu) rs1057519905
NM_003533.3(H3C11):c.83A>T (p.Lys28Met) rs1057519904
NM_004168.4(SDHA):c.1015T>C (p.Ser339Pro) rs1553999041
NM_004168.4(SDHA):c.1064+1G>T rs1579402807
NM_004168.4(SDHA):c.1064+2T>A rs1553999072
NM_004168.4(SDHA):c.1064+2T>C
NM_004168.4(SDHA):c.1064+2T>G rs1553999072
NM_004168.4(SDHA):c.1065-2A>G
NM_004168.4(SDHA):c.1260+1G>A rs1735710012
NM_004168.4(SDHA):c.1260+1G>T
NM_004168.4(SDHA):c.1260+2T>A rs1735710103
NM_004168.4(SDHA):c.1261-1G>A rs1735779936
NM_004168.4(SDHA):c.1261-2A>G rs1579409293
NM_004168.4(SDHA):c.1304T>G (p.Leu435Arg) rs1579409500
NM_004168.4(SDHA):c.1334C>T (p.Ser445Leu) rs1296066077
NM_004168.4(SDHA):c.1351C>T (p.Arg451Cys) rs1553999752
NM_004168.4(SDHA):c.1432+1G>A
NM_004168.4(SDHA):c.1432+1G>C rs878854628
NM_004168.4(SDHA):c.1432+1G>T rs878854628
NM_004168.4(SDHA):c.1432+1_1432+2delinsAG rs1579410180
NM_004168.4(SDHA):c.1432+2T>G
NM_004168.4(SDHA):c.1433-2A>G
NM_004168.4(SDHA):c.150+1G>C rs1057523165
NM_004168.4(SDHA):c.150_150+1delinsTA rs2126539987
NM_004168.4(SDHA):c.151-1G>C rs1458851277
NM_004168.4(SDHA):c.151-2A>G
NM_004168.4(SDHA):c.1551+1G>A rs759806010
NM_004168.4(SDHA):c.1551+1G>C
NM_004168.4(SDHA):c.1552-1G>C
NM_004168.4(SDHA):c.1571C>T (p.Ala524Val) rs137852767
NM_004168.4(SDHA):c.1579del (p.Arg527fs) rs1579437839
NM_004168.4(SDHA):c.1663+1G>A rs766667009
NM_004168.4(SDHA):c.1664-16_1666del
NM_004168.4(SDHA):c.1664-1G>A
NM_004168.4(SDHA):c.1664-2A>G rs2126633124
NM_004168.4(SDHA):c.1752_1753inv (p.Arg585Trp)
NM_004168.4(SDHA):c.1765C>G (p.Arg589Gly) rs387906780
NM_004168.4(SDHA):c.1766G>A (p.Arg589Gln) rs763766162
NM_004168.4(SDHA):c.1769del (p.Gly590fs) rs1554001958
NM_004168.4(SDHA):c.1773_1774dup (p.His592fs) rs1561010948
NM_004168.4(SDHA):c.1794+1G>A rs876659595
NM_004168.4(SDHA):c.1795-1G>T rs778516878
NM_004168.4(SDHA):c.1832del (p.Gln611fs) rs1554002451
NM_004168.4(SDHA):c.1866G>A (p.Trp622Ter) rs1579445179
NM_004168.4(SDHA):c.1909-1G>A rs1159597886
NM_004168.4(SDHA):c.1A>T (p.Met1Leu) rs1061517
NM_004168.4(SDHA):c.210dup (p.Gly71fs) rs1553997340
NM_004168.4(SDHA):c.284C>G (p.Pro95Arg) rs1553997377
NM_004168.4(SDHA):c.2T>C (p.Met1Thr) rs750380279
NM_004168.4(SDHA):c.2T>G (p.Met1Arg) rs750380279
NM_004168.4(SDHA):c.312+1G>A rs2126543441
NM_004168.4(SDHA):c.456+1G>A rs1579384604
NM_004168.4(SDHA):c.456+1G>T rs1579384604
NM_004168.4(SDHA):c.457-1G>A
NM_004168.4(SDHA):c.484del (p.Arg162fs) rs1734988578
NM_004168.4(SDHA):c.621+1G>A rs1735002961
NM_004168.4(SDHA):c.622-1G>A rs1285132774
NM_004168.4(SDHA):c.63+1G>C
NM_004168.4(SDHA):c.63+2del rs1579369969
NM_004168.4(SDHA):c.64-2A>C
NM_004168.4(SDHA):c.688del (p.Glu230fs) rs1553998199
NM_004168.4(SDHA):c.757_758del (p.Val253fs) rs1553998254
NM_004168.4(SDHA):c.762_770+17del rs1041809852
NM_004168.4(SDHA):c.769_770+77del
NM_004168.4(SDHA):c.771-1G>C rs1735353141
NM_004168.4(SDHA):c.778G>C (p.Gly260Arg) rs940845256
NM_004168.4(SDHA):c.895+1del rs2126568833
NM_004168.4(SDHA):c.895+2T>C
NM_004168.4(SDHA):c.896-2A>G
NM_004168.4(SDHA):c.896-2del
NM_004168.4(SDHA):c.944dup (p.Gly316fs) rs1579402180
NM_004168.4(SDHA):c.964C>T (p.Gln322Ter)
NM_004168.4:c.(1260_1261)_(1432_1433)del
NM_004304.5(ALK):c.3383G>C (p.Gly1128Ala) rs113994088
NM_004304.5(ALK):c.3575G>C (p.Arg1192Pro) rs113994089
NM_004304.5(ALK):c.3824G>A (p.Arg1275Gln) rs113994087
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.1799T>A (p.Val600Glu) rs113488022
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_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_005228.5(EGFR):c.1793G>C (p.Gly598Ala) rs139236063
NM_005228.5(EGFR):c.1793G>T (p.Gly598Val) rs139236063
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.322A>G (p.Arg108Gly) rs1057519888
NM_005228.5(EGFR):c.323G>A (p.Arg108Lys) rs1057519828
NM_005228.5(EGFR):c.787A>C (p.Thr263Pro) rs1057519829
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.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_005378.6(MYCN):c.131C>T (p.Pro44Leu) rs1057519919
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_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.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.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_006767.4(LZTR1):c.320+2T>C
NM_013263.5(BRD7):c.1834C>T (p.Arg612Ter) rs796065051
NM_015450.3(POT1):c.910dup (p.Asp304fs)
NM_017841.4(SDHAF2):c.229_230del (p.Arg77fs) rs1336819076
NM_017841.4(SDHAF2):c.267del (p.Phe89fs) rs766035180
NM_017841.4(SDHAF2):c.28del (p.Ser10fs) rs1861838658
NM_017841.4(SDHAF2):c.301C>T (p.Gln101Ter)
NM_017841.4(SDHAF2):c.305_306insA (p.Asn103fs) rs753554501
NM_017841.4(SDHAF2):c.355dup (p.Tyr119fs) rs1456129845
NM_017841.4(SDHAF2):c.406del (p.Val136fs)
NM_017841.4(SDHAF2):c.42_45del (p.Ala15fs) rs1862009020
NM_017841.4(SDHAF2):c.9_19del (p.Ser4fs)
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_032444.4(SLX4):c.859_860del (p.Ser287fs) rs1567176006
NM_177438.3(DICER1):c.5425G>A (p.Gly1809Arg) rs1595314951
NM_181523.3(PIK3R1):c.1126G>C (p.Gly376Arg) rs1057519757
NM_181523.3(PIK3R1):c.1690A>G (p.Asn564Asp) rs1057519841
inv(22)(q12.2q12.2)

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