ClinVar Miner

List of variants reported as likely pathogenic by Database of Curated Mutations (DoCM)

Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 1114
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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.3928_3938del (p.Glu1309_Lys1310insTer) rs1057519843
NM_000038.6(APC):c.3928_3947del (p.Glu1309_Lys1310insTer) rs1057519844
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_000038.6(APC):c.4396_4400del (p.Ser1465_Gly1466insTer) rs1057519845
NM_000038.6(APC):c.4669_4676del (p.Thr1556_Ile1557insTer) rs1057519846
NM_000061.2(BTK):c.121G>A (p.Glu41Lys) rs1057520045
NM_000061.2(BTK):c.1441T>A (p.Cys481Ser) rs1057519826
NM_000061.2(BTK):c.1442G>C (p.Cys481Ser) rs1057519825
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_000077.4(CDKN2A):c.149A>G (p.Gln50Arg) rs587778189
NM_000077.4(CDKN2A):c.150G>T (p.Gln50His) rs1057519882
NM_000077.4(CDKN2A):c.172C>T (p.Arg58Ter) rs121913387
NM_000077.4(CDKN2A):c.181G>T (p.Glu61Ter) rs121913382
NM_000077.4(CDKN2A):c.205G>T (p.Glu69Ter) rs121913383
NM_000077.4(CDKN2A):c.238C>T (p.Arg80Ter) rs121913388
NM_000077.4(CDKN2A):c.239G>A (p.Arg80Gln) rs1057519883
NM_000077.4(CDKN2A):c.247C>G (p.His83Asp) rs121913385
NM_000077.4(CDKN2A):c.247C>T (p.His83Tyr) rs121913385
NM_000077.4(CDKN2A):c.248A>G (p.His83Arg) rs1057519881
NM_000077.4(CDKN2A):c.249C>G (p.His83Gln) rs34968276
NM_000077.4(CDKN2A):c.250G>T (p.Asp84Tyr) rs11552822
NM_000077.4(CDKN2A):c.262G>T (p.Glu88Ter) rs121913384
NM_000077.4(CDKN2A):c.322G>T (p.Asp108Tyr) rs121913381
NM_000077.4(CDKN2A):c.329G>A (p.Trp110Ter) rs1057519852
NM_000077.4(CDKN2A):c.330G>A (p.Trp110Ter) rs121913389
NM_000077.4(CDKN2A):c.340C>A (p.Pro114Thr) rs104894104
NM_000077.4(CDKN2A):c.341C>A (p.Pro114His) rs121913386
NM_000077.4(CDKN2A):c.341C>T (p.Pro114Leu) rs121913386
NM_000125.3(ESR1):c.1138G>C (p.Glu380Gln) rs1057519827
NM_000141.4(FGFR2):c.1025G>A (p.Cys342Tyr) rs121918487
NM_000141.4(FGFR2):c.1115C>G (p.Ser372Cys) rs121913477
NM_000141.4(FGFR2):c.1121A>G (p.Asp374Gly) rs1057520028
NM_000141.4(FGFR2):c.1124A>G (p.Tyr375Cys) rs121913478
NM_000141.4(FGFR2):c.1141T>C (p.Tyr381His) rs387906678
NM_000141.4(FGFR2):c.1144T>C (p.Cys382Arg) rs121913474
NM_000141.4(FGFR2):c.1145G>A (p.Cys382Tyr) rs1057519900
NM_000141.4(FGFR2):c.1570A>G (p.Thr524Ala) rs1057520044
NM_000141.4(FGFR2):c.1605G>A (p.Met535Ile) rs1057519800
NM_000141.4(FGFR2):c.1605G>C (p.Met535Ile) rs1057519800
NM_000141.4(FGFR2):c.1605G>T (p.Met535Ile) rs1057519800
NM_000141.4(FGFR2):c.1611G>A (p.Met537Ile) rs1057519799
NM_000141.4(FGFR2):c.1611G>C (p.Met537Ile) rs1057519799
NM_000141.4(FGFR2):c.1611G>T (p.Met537Ile) rs1057519799
NM_000141.4(FGFR2):c.1639A>G (p.Ile547Val) rs1057519798
NM_000141.4(FGFR2):c.1642A>C (p.Ile548Leu) rs1057519901
NM_000141.4(FGFR2):c.1645A>C (p.Asn549His) rs1057519045
NM_000141.4(FGFR2):c.1647T>A (p.Asn549Lys) rs121913476
NM_000141.4(FGFR2):c.1647T>G (p.Asn549Lys) rs121913476
NM_000141.4(FGFR2):c.1690G>A (p.Val564Ile) rs1057519797
NM_000141.4(FGFR2):c.1694A>C (p.Glu565Ala) rs121918506
NM_000141.4(FGFR2):c.1694A>G (p.Glu565Gly) rs121918506
NM_000141.4(FGFR2):c.1849T>A (p.Leu617Met) rs1057519796
NM_000141.4(FGFR2):c.1913A>C (p.Asn638Thr) rs777169135
NM_000141.4(FGFR2):c.1914T>A (p.Asn638Lys) rs1057519854
NM_000141.4(FGFR2):c.1972A>G (p.Lys658Glu) rs1057520027
NM_000141.4(FGFR2):c.1974A>T (p.Lys658Asn) rs1057520029
NM_000141.4(FGFR2):c.1975A>G (p.Lys659Glu) rs1057519795
NM_000141.4(FGFR2):c.755C>G (p.Ser252Trp) rs79184941
NM_000141.4(FGFR2):c.758C>G (p.Pro253Arg) rs77543610
NM_000141.4(FGFR2):c.870G>C (p.Trp290Cys) rs121918499
NM_000141.4(FGFR2):c.929A>G (p.Lys310Arg) rs121913475
NM_000142.4(FGFR3):c.1108G>T (p.Gly370Cys) rs121913479
NM_000142.4(FGFR3):c.1111A>T (p.Ser371Cys) rs121913484
NM_000142.4(FGFR3):c.1118A>G (p.Tyr373Cys) rs121913485
NM_000142.4(FGFR3):c.1172C>A (p.Ala391Glu) rs28931615
NM_000142.4(FGFR3):c.1657G>A (p.Val553Met) rs199544087
NM_000142.4(FGFR3):c.1943A>C (p.Tyr648Ser) rs587779383
NM_000142.4(FGFR3):c.1943A>T (p.Tyr648Phe) rs587779383
NM_000142.4(FGFR3):c.1948A>C (p.Lys650Gln) rs78311289
NM_000142.4(FGFR3):c.1948A>G (p.Lys650Glu) rs78311289
NM_000142.4(FGFR3):c.2089G>T (p.Gly697Cys) rs121913480
NM_000142.4(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_000142.4(FGFR3):c.746C>G (p.Ser249Cys) rs121913483
NM_000215.3(JAK3):c.1503G>C (p.Gln501His) rs201283129
NM_000215.3(JAK3):c.1503G>T (p.Gln501His) rs201283129
NM_000215.3(JAK3):c.1715C>T (p.Ala572Val) rs121913504
NM_000215.3(JAK3):c.1970G>A (p.Arg657Gln) rs758959409
NM_000215.3(JAK3):c.2143G>A (p.Val715Ile) rs1057520020
NM_000215.3(JAK3):c.2164G>A (p.Val722Ile) rs3213409
NM_000215.3(JAK3):c.260T>C (p.Ile87Thr) rs1057519770
NM_000215.3(JAK3):c.394C>A (p.Pro132Thr) rs3212723
NM_000222.2(KIT):c.154G>A (p.Asp52Asn) rs121913505
NM_000222.2(KIT):c.1669T>A (p.Trp557Arg) rs121913235
NM_000222.2(KIT):c.1669T>C (p.Trp557Arg) rs121913235
NM_000222.2(KIT):c.1669T>G (p.Trp557Gly) rs121913235
NM_000222.2(KIT):c.1670G>C (p.Trp557Ser) rs1057520032
NM_000222.2(KIT):c.1670_1671delinsTT (p.Trp557Phe) rs1057520035
NM_000222.2(KIT):c.1671G>C (p.Trp557Cys) rs1057520033
NM_000222.2(KIT):c.1672A>C (p.Lys558Gln) rs1057520031
NM_000222.2(KIT):c.1672A>G (p.Lys558Glu) rs1057520031
NM_000222.2(KIT):c.1674G>T (p.Lys558Asn) rs200375589
NM_000222.2(KIT):c.1675G>A (p.Val559Ile) rs121913520
NM_000222.2(KIT):c.1676T>A (p.Val559Asp) rs121913517
NM_000222.2(KIT):c.1676T>C (p.Val559Ala) rs121913517
NM_000222.2(KIT):c.1676T>G (p.Val559Gly) rs121913517
NM_000222.2(KIT):c.1676_1678TTG[1] (p.Val560del) rs121913685
NM_000222.2(KIT):c.1679T>A (p.Val560Asp) rs121913521
NM_000222.2(KIT):c.1679T>G (p.Val560Gly) rs121913521
NM_000222.2(KIT):c.1679_1680inv (p.Val560Glu) rs1057520034
NM_000222.2(KIT):c.1727T>C (p.Leu576Pro) rs121913513
NM_000222.2(KIT):c.1924A>G (p.Lys642Glu) rs121913512
NM_000222.2(KIT):c.1926A>C (p.Lys642Asn) rs1057519907
NM_000222.2(KIT):c.1961T>A (p.Val654Glu) rs121913523
NM_000222.2(KIT):c.1961T>C (p.Val654Ala) rs121913523
NM_000222.2(KIT):c.2009C>T (p.Thr670Ile) rs121913516
NM_000222.2(KIT):c.2446G>C (p.Asp816His) rs121913506
NM_000222.2(KIT):c.2446G>T (p.Asp816Tyr) rs121913506
NM_000222.2(KIT):c.2447A>T (p.Asp816Val) rs121913507
NM_000222.2(KIT):c.2459A>T (p.Asp820Val) rs121913682
NM_000222.2(KIT):c.2465A>T (p.Asn822Ile) rs993022333
NM_000222.2(KIT):c.2466T>A (p.Asn822Lys) rs121913514
NM_000222.2(KIT):c.2466T>G (p.Asn822Lys) rs121913514
NM_000222.2(KIT):c.2467T>G (p.Tyr823Asp) rs1057519761
NM_000222.2(KIT):c.2474T>C (p.Val825Ala) rs121913524
NM_000222.2(KIT):c.2485G>C (p.Ala829Pro) rs1057519713
NM_000222.2(KIT):c.2515G>A (p.Glu839Lys) rs121913509
NM_000249.3(MLH1):c.1151T>A (p.Val384Asp) rs63750447
NM_000314.7(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.7(PTEN):c.388C>G (p.Arg130Gly) rs121909224
NM_000314.7(PTEN):c.388C>T (p.Arg130Ter) 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.517C>T (p.Arg173Cys) rs121913293
NM_000314.7(PTEN):c.518G>A (p.Arg173His) rs121913294
NM_000314.7(PTEN):c.698G>A (p.Arg233Gln) rs770025422
NM_000314.7(PTEN):c.700C>T (p.Arg234Trp) rs786201730
NM_000321.2(RB1):c.1072C>T (p.Arg358Ter) rs121913301
NM_000321.2(RB1):c.1363C>T (p.Arg455Ter) rs121913302
NM_000321.2(RB1):c.1654C>T (p.Arg552Ter) rs121913303
NM_000321.2(RB1):c.1666C>T (p.Arg556Ter) rs121913304
NM_000321.2(RB1):c.1735C>T (p.Arg579Ter) rs121913305
NM_000321.2(RB1):c.2117G>T (p.Cys706Phe) rs121913295
NM_000321.2(RB1):c.2242G>T (p.Glu748Ter) rs121913297
NM_000321.2(RB1):c.409G>T (p.Glu137Ter) rs121913296
NM_000321.2(RB1):c.596T>A (p.Leu199Ter) rs121913298
NM_000321.2(RB1):c.958C>T (p.Arg320Ter) rs121913300
NM_000455.4(STK11):c.1060T>C (p.Phe354Leu) rs1057520018
NM_000455.4(STK11):c.1088C>T (p.Thr363Ile) rs587778695
NM_000455.4(STK11):c.109C>T (p.Gln37Ter) rs121913324
NM_000455.4(STK11):c.200T>C (p.Leu67Pro) rs137853077
NM_000455.4(STK11):c.256C>G (p.Arg86Gly) rs1057520039
NM_000455.4(STK11):c.323A>G (p.Lys108Arg) rs1057520040
NM_000455.4(STK11):c.368A>G (p.Gln123Arg) rs764449808
NM_000455.4(STK11):c.487G>T (p.Gly163Cys) rs730881972
NM_000455.4(STK11):c.508C>T (p.Gln170Ter) rs121913323
NM_000455.4(STK11):c.526G>A (p.Asp176Asn) rs730881979
NM_000455.4(STK11):c.530T>A (p.Ile177Asn) rs1057520041
NM_000455.4(STK11):c.580G>A (p.Asp194Asn) rs121913315
NM_000455.4(STK11):c.580G>T (p.Asp194Tyr) rs121913315
NM_000455.4(STK11):c.581A>T (p.Asp194Val) rs121913316
NM_000455.4(STK11):c.582C>A (p.Asp194Glu) rs786202134
NM_000455.4(STK11):c.582C>G (p.Asp194Glu) rs786202134
NM_000455.4(STK11):c.587G>T (p.Gly196Val) rs1057519858
NM_000455.4(STK11):c.595G>A (p.Glu199Lys) rs121913317
NM_000455.4(STK11):c.595G>T (p.Glu199Ter) rs121913317
NM_000455.4(STK11):c.644G>A (p.Gly215Asp) rs1057520038
NM_000455.4(STK11):c.647C>T (p.Ser216Phe) rs1057520017
NM_000455.4(STK11):c.717G>C (p.Trp239Cys) rs137853082
NM_000455.4(STK11):c.842C>T (p.Pro281Leu) rs121913322
NM_000455.4(STK11):c.910C>T (p.Arg304Trp) rs786201090
NM_000455.4(STK11):c.924G>C (p.Trp308Cys) rs1057520042
NM_000455.4(STK11):c.971C>T (p.Pro324Leu) rs367807476
NM_000455.4(STK11):c.996G>A (p.Trp332Ter) rs121913325
NM_000459.4(TEK):c.2228G>C (p.Gly743Ala) rs202131936
NM_000546.5(TP53):c.332T>A (p.Leu111Gln) rs1057519997
NM_000546.5(TP53):c.332T>C (p.Leu111Pro) rs1057519997
NM_000546.5(TP53):c.332T>G (p.Leu111Arg) rs1057519997
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.431A>C (p.Gln144Pro) rs786203071
NM_000546.5(TP53):c.431A>T (p.Gln144Leu) rs786203071
NM_000546.5(TP53):c.432G>T (p.Gln144His) rs786201419
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.524G>A (p.Arg175His) rs28934578
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.643A>G (p.Ser215Gly) rs886039484
NM_000546.5(TP53):c.644G>A (p.Ser215Asn) rs587782177
NM_000546.5(TP53):c.644G>T (p.Ser215Ile) rs587782177
NM_000546.5(TP53):c.645T>G (p.Ser215Arg) rs1057520001
NM_000546.5(TP53):c.646G>A (p.Val216Met) rs730882025
NM_000546.5(TP53):c.646G>T (p.Val216Leu) rs730882025
NM_000546.5(TP53):c.647T>A (p.Val216Glu) rs1057520004
NM_000546.5(TP53):c.647T>G (p.Val216Gly) rs1057520004
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.724T>A (p.Cys242Ser) rs1057519982
NM_000546.5(TP53):c.724T>G (p.Cys242Gly) rs1057519982
NM_000546.5(TP53):c.725G>A (p.Cys242Tyr) rs121912655
NM_000546.5(TP53):c.725G>T (p.Cys242Phe) rs121912655
NM_000546.5(TP53):c.726C>G (p.Cys242Trp) rs375874539
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.745A>G (p.Arg249Gly) rs587782082
NM_000546.5(TP53):c.745A>T (p.Arg249Trp) rs587782082
NM_000546.5(TP53):c.746G>A (p.Arg249Lys) rs587782329
NM_000546.5(TP53):c.746G>C (p.Arg249Thr) rs587782329
NM_000546.5(TP53):c.746G>T (p.Arg249Met) rs587782329
NM_000546.5(TP53):c.763A>T (p.Ile255Phe) rs1057519995
NM_000546.5(TP53):c.764T>A (p.Ile255Asn) rs876659675
NM_000546.5(TP53):c.764T>C (p.Ile255Thr) rs876659675
NM_000546.5(TP53):c.764T>G (p.Ile255Ser) rs876659675
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.808T>A (p.Phe270Ile) rs1057519988
NM_000546.5(TP53):c.808T>G (p.Phe270Val) rs1057519988
NM_000546.5(TP53):c.809T>C (p.Phe270Ser) rs1057519986
NM_000546.5(TP53):c.809T>G (p.Phe270Cys) rs1057519986
NM_000546.5(TP53):c.810T>G (p.Phe270Leu) rs1057519987
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.817C>T (p.Arg273Cys) 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.838A>G (p.Arg280Gly) rs753660142
NM_000546.5(TP53):c.839G>A (p.Arg280Lys) rs121912660
NM_000546.5(TP53):c.839G>C (p.Arg280Thr) rs121912660
NM_000546.5(TP53):c.839G>T (p.Arg280Ile) rs121912660
NM_000546.5(TP53):c.841G>A (p.Asp281Asn) rs764146326
NM_000546.5(TP53):c.841G>C (p.Asp281His) rs764146326
NM_000546.5(TP53):c.841G>T (p.Asp281Tyr) rs764146326
NM_000546.5(TP53):c.842A>C (p.Asp281Ala) rs587781525
NM_000546.5(TP53):c.842A>G (p.Asp281Gly) rs587781525
NM_000546.5(TP53):c.842A>T (p.Asp281Val) rs587781525
NM_000546.5(TP53):c.843C>G (p.Asp281Glu) rs1057519984
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_000551.3(VHL):c.241C>T (p.Pro81Ser) rs104893829
NM_000551.3(VHL):c.254T>C (p.Leu85Pro) rs5030828
NM_000551.3(VHL):c.266T>A (p.Leu89His) rs5030807
NM_000551.3(VHL):c.473T>A (p.Leu158Gln) rs121913346
NM_000551.3(VHL):c.481C>T (p.Arg161Ter) rs5030818
NM_000551.3(VHL):c.499C>T (p.Arg167Trp) rs5030820
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_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_001077488.4(GNAS):c.683A>T (p.Gln228Leu) rs121913494
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_001105.5(ACVR1):c.772A>G (p.Arg258Gly) rs863224846
NM_001105.5(ACVR1):c.773G>T (p.Arg258Met) rs1057519875
NM_001105.5(ACVR1):c.983G>A (p.Gly328Glu) rs387906589
NM_001105.5(ACVR1):c.983G>T (p.Gly328Val) rs387906589
NM_001127500.3(MET):c.2962C>T (p.Arg988Cys) rs34589476
NM_001127500.3(MET):c.3029C>T (p.Thr1010Ile) rs56391007
NM_001127500.3(MET):c.3328G>A (p.Val1110Ile) rs786202724
NM_001127500.3(MET):c.3334C>T (p.His1112Tyr) rs121913244
NM_001127500.3(MET):c.3335A>G (p.His1112Arg) rs121913243
NM_001127500.3(MET):c.3352A>T (p.Asn1118Tyr) rs1057520030
NM_001127500.3(MET):c.3736G>A (p.Asp1246Asn) rs121913671
NM_001127500.3(MET):c.3736G>C (p.Asp1246His) rs121913671
NM_001127500.3(MET):c.3742T>C (p.Tyr1248His) rs121913247
NM_001127500.3(MET):c.3743A>G (p.Tyr1248Cys) rs121913246
NM_001127500.3(MET):c.3757T>G (p.Tyr1253Asp) rs1057519824
NM_001127500.3(MET):c.3803T>C (p.Met1268Thr) rs121913245
NM_001127500.3(MET):c.3804G>A (p.Met1268Ile) rs121913676
NM_001127500.3(MET):c.3804G>C (p.Met1268Ile) rs121913676
NM_001127500.3(MET):c.3804G>T (p.Met1268Ile) rs121913676
NM_001145661.2(GATA2):c.1061C>T (p.Thr354Met) rs387906631
NM_001145661.2(GATA2):c.1192C>T (p.Arg398Trp) rs387906629
NM_001172567.2(MYD88):c.779T>C (p.Leu260Pro) rs387907272
NM_001197125.1(IRF3):c.-518G>A rs1057519880
NM_001278626.1(CRNKL1):c.-319+36C>T rs1057519885
NM_001313903.1(NFE2L2):c.93+142G>C rs1057519922
NM_001313903.1(NFE2L2):c.93+143A>T rs1057519923
NM_001313903.1(NFE2L2):c.93+144G>T rs1057519924
NM_001313904.1(NFE2L2):c.-144A>G rs1057519921
NM_001313904.1(NFE2L2):c.-145G>A rs1057519920
NM_001313904.1(NFE2L2):c.-145G>C rs1057519920
NM_001313904.1(NFE2L2):c.-145G>T rs1057519920
NM_001429.4(EP300):c.4195G>A (p.Asp1399Asn) rs1057519889
NM_001429.4(EP300):c.4195G>T (p.Asp1399Tyr) rs1057519889
NM_001626.6(AKT2):c.1112G>A (p.Arg371His) rs778561687
NM_001626.6(AKT2):c.904A>G (p.Ser302Gly) rs1057519754
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_001754.4(RUNX1):c.484A>G (p.Arg162Gly) rs1057519751
NM_001754.4(RUNX1):c.485G>A (p.Arg162Lys) rs1057519750
NM_001754.4(RUNX1):c.486G>C (p.Arg162Ser) rs1057519749
NM_001754.4(RUNX1):c.486G>T (p.Arg162Ser) rs1057519749
NM_001754.4(RUNX1):c.601C>T (p.Arg201Ter) rs1057519748
NM_001904.4(CTNNB1):c.100G>A (p.Gly34Arg) rs121913399
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.118A>C (p.Thr40Pro) rs1057519836
NM_001904.4(CTNNB1):c.118A>G (p.Thr40Ala) rs1057519836
NM_001904.4(CTNNB1):c.118A>T (p.Thr40Ser) rs1057519836
NM_001904.4(CTNNB1):c.119C>G (p.Thr40Ser) rs1057519837
NM_001904.4(CTNNB1):c.119C>T (p.Thr40Ile) rs1057519837
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.133T>G (p.Ser45Ala) 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.37G>A (p.Ala13Thr) rs121913394
NM_001904.4(CTNNB1):c.61G>A (p.Ala21Thr) rs121913395
NM_001904.4(CTNNB1):c.65T>C (p.Val22Ala) rs77064436
NM_001904.4(CTNNB1):c.65_115del (p.Val22_Gly38del) rs121913416
NM_001904.4(CTNNB1):c.74_97del (p.Trp25_Asp32del) rs121913417
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_001982.3(ERBB3):c.2426A>G (p.Gln809Arg) rs931676601
NM_001982.3(ERBB3):c.310G>A (p.Val104Met) rs1057519893
NM_001982.3(ERBB3):c.310G>T (p.Val104Leu) rs1057519893
NM_001982.3(ERBB3):c.785C>A (p.Pro262His) rs1057519817
NM_001982.3(ERBB3):c.850G>A (p.Gly284Arg) rs1057519803
NM_001982.3(ERBB3):c.889G>A (p.Asp297Asn) rs1057519891
NM_001982.3(ERBB3):c.889G>T (p.Asp297Tyr) rs1057519891
NM_001982.3(ERBB3):c.890A>T (p.Asp297Val) rs1057519892
NM_002067.5(GNA11):c.626A>C (p.Gln209Pro) rs1057519742
NM_002067.5(GNA11):c.626A>T (p.Gln209Leu) rs1057519742
NM_002072.5(GNAQ):c.625_626delinsTT (p.Gln209Leu) rs1057519853
NM_002072.5(GNAQ):c.626A>C (p.Gln209Pro) rs121913492
NM_002072.5(GNAQ):c.626A>T (p.Gln209Leu) rs121913492
NM_002107.6(H3-3A):c.100G>C (p.Gly34Arg) rs1057519902
NM_002107.6(H3-3A):c.83A>T (p.Lys28Met) rs1057519903
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_002185.5(IL7R):c.553A>T (p.Ser185Cys) rs1057519759
NM_002227.4(JAK1):c.1901C>A (p.Ala634Asp) rs869312953
NM_002227.4(JAK1):c.1937C>T (p.Ser646Phe) rs151047872
NM_002227.4(JAK1):c.1972G>T (p.Val658Phe) rs1057519753
NM_002467.6(MYC):c.169C>T (p.Pro57Ser) rs1057519849
NM_002467.6(MYC):c.173C>T (p.Pro58Leu) rs1057519918
NM_002467.6(MYC):c.176C>T (p.Ala59Val) rs775522201
NM_002467.6(MYC):c.217A>C (p.Thr73Pro) rs750664148
NM_002467.6(MYC):c.218C>T (p.Thr73Ile) rs756091827
NM_002467.6(MYC):c.230C>T (p.Ser77Phe) rs1057519850
NM_002467.6(MYC):c.302A>C (p.Asn101Thr) rs121918683
NM_002467.6(MYC):c.778C>G (p.Pro260Ala) rs1057519851
NM_002520.6(NPM1):c.862_863insCATG (p.Trp288fs) rs1057519744
NM_002520.6(NPM1):c.862_863insCCTG (p.Trp288fs) rs1057519744
NM_002520.6(NPM1):c.862_863insTCAG (p.Trp288fs) rs1057519744
NM_002520.6(NPM1):c.862_863insTCTG (p.Trp288fs) rs1057519744
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) rs121913254
NM_002524.5(NRAS):c.181C>T (p.Gln61Ter) rs121913254
NM_002524.5(NRAS):c.181_182delinsAG (p.Gln61Arg) rs1057519834
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>C (p.Gln61His) rs121913255
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>A (p.Gly12Asp) rs121913237
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>A (p.Gly13Ser) rs121434595
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_002524.5(NRAS):c.52G>A (p.Ala18Thr) rs121913248
NM_002661.5(PLCG2):c.1993C>T (p.Arg665Trp) rs1057519831
NM_002661.5(PLCG2):c.2535A>C (p.Leu845Phe) rs1057519832
NM_002661.5(PLCG2):c.2535A>T (p.Leu845Phe) rs1057519832
NM_002721.5(PPP6C):c.790C>T (p.Arg264Cys) rs763733111
NM_002745.4(MAPK1):c.964G>A (p.Glu322Lys) rs1057519911
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.167A>C (p.Gln56Pro) rs1057519729
NM_002755.3(MAP2K1):c.169A>G (p.Lys57Glu) rs397516790
NM_002755.3(MAP2K1):c.170A>C (p.Lys57Thr) rs1057519909
NM_002755.3(MAP2K1):c.171G>C (p.Lys57Asn) rs869025608
NM_002755.3(MAP2K1):c.171G>T (p.Lys57Asn) rs869025608
NM_002755.3(MAP2K1):c.199G>A (p.Asp67Asn) rs727504317
NM_002755.3(MAP2K1):c.296T>C (p.Ile99Thr) rs1057519819
NM_002755.3(MAP2K1):c.308T>A (p.Ile103Asn) rs730880502
NM_002755.3(MAP2K1):c.332T>A (p.Ile111Asn) rs1057519730
NM_002755.3(MAP2K1):c.356A>C (p.His119Pro) rs1057519820
NM_002755.3(MAP2K1):c.360G>C (p.Glu120Asp) rs1057519821
NM_002755.3(MAP2K1):c.360G>T (p.Glu120Asp) rs1057519821
NM_002755.3(MAP2K1):c.361T>A (p.Cys121Ser) rs1057519856
NM_002755.3(MAP2K1):c.362G>C (p.Cys121Ser) rs1057519731
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_002755.3(MAP2K1):c.383G>A (p.Gly128Asp) rs121908596
NM_002755.3(MAP2K1):c.385T>C (p.Phe129Leu) rs1057519805
NM_002755.3(MAP2K1):c.632T>A (p.Val211Asp) rs1057519822
NM_002755.3(MAP2K1):c.644T>C (p.Leu215Pro) rs1057519823
NM_002834.4(PTPN11):c.1508G>T (p.Gly503Val) rs397507546
NM_002834.4(PTPN11):c.214G>A (p.Ala72Thr) rs121918453
NM_002834.4(PTPN11):c.215C>A (p.Ala72Asp) rs121918454
NM_002834.4(PTPN11):c.215C>T (p.Ala72Val) rs121918454
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.1103G>C (p.Trp368Ser) rs1057519815
NM_002880.3(RAF1):c.1472C>T (p.Thr491Ile) rs80338799
NM_002880.3(RAF1):c.1837C>G (p.Leu613Val) rs80338797
NM_002880.3(RAF1):c.769T>C (p.Ser257Pro) rs727505017
NM_002880.3(RAF1):c.770C>G (p.Ser257Trp) rs80338796
NM_002880.3(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_002880.3(RAF1):c.776C>T (p.Ser259Phe) rs397516827
NM_002880.3(RAF1):c.781C>G (p.Pro261Ala) rs121434594
NM_002880.3(RAF1):c.781C>T (p.Pro261Ser) rs121434594
NM_002880.3(RAF1):c.782C>T (p.Pro261Leu) rs397516828
NM_002880.3(RAF1):c.788T>C (p.Val263Ala) rs397516830
NM_002944.2(ROS1):c.6094G>A (p.Gly2032Arg) rs1057519788
NM_002957.6(RXRA):c.1280C>A (p.Ser427Tyr) rs1057519958
NM_002957.6(RXRA):c.1280C>T (p.Ser427Phe) rs1057519958
NM_003318.5(TTK):c.2089G>T (p.Asp697Tyr) rs1057520011
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_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_004119.2(FLT3):c.1715A>G (p.Tyr572Cys) rs121913491
NM_004119.2(FLT3):c.1736T>C (p.Val579Ala) rs1057520022
NM_004119.2(FLT3):c.1771T>G (p.Tyr591Asp) rs1057520043
NM_004119.2(FLT3):c.1772A>G (p.Tyr591Cys) rs1057520024
NM_004119.2(FLT3):c.1775T>C (p.Val592Ala) rs1057520025
NM_004119.2(FLT3):c.1780T>C (p.Phe594Leu) rs1057520021
NM_004119.2(FLT3):c.1855G>T (p.Gly619Cys) rs1057519769
NM_004119.2(FLT3):c.1952A>G (p.Asp651Gly) rs1057519768
NM_004119.2(FLT3):c.1987A>C (p.Lys663Gln) rs1057520026
NM_004119.2(FLT3):c.2026A>G (p.Asn676Asp) rs1057519767
NM_004119.2(FLT3):c.2028C>A (p.Asn676Lys) rs1057519766
NM_004119.2(FLT3):c.2028C>G (p.Asn676Lys) rs1057519766
NM_004119.2(FLT3):c.2059A>T (p.Ile687Phe) rs1057519765
NM_004119.2(FLT3):c.2073T>A (p.Phe691Leu) rs1057519764
NM_004119.2(FLT3):c.2073T>G (p.Phe691Leu) rs1057519764
NM_004119.2(FLT3):c.2503_2504delinsTT (p.Asp835Phe) rs1057519763
NM_004119.2(FLT3):c.2503_2505del (p.Asp835del) rs121913486
NM_004119.2(FLT3):c.2506A>G (p.Ile836Val) rs1057519726
NM_004119.2(FLT3):c.2506A>T (p.Ile836Phe) rs1057519726
NM_004119.2(FLT3):c.2507T>G (p.Ile836Ser) rs1057520023
NM_004119.2(FLT3):c.2508_2510del (p.Ile836del) rs121913490
NM_004119.2(FLT3):c.2516A>G (p.Asp839Gly) rs991132188
NM_004119.2(FLT3):c.2521A>C (p.Asn841His) rs772061268
NM_004119.2(FLT3):c.2523C>A (p.Asn841Lys) rs749281035
NM_004119.2(FLT3):c.2524T>C (p.Tyr842His) rs1057519762
NM_004119.2(FLT3):c.2525A>G (p.Tyr842Cys) rs376588714
NM_004197.1(STK19):c.265G>A (p.Asp89Asn) rs267600971
NM_004304.5(ALK):c.3383G>C (p.Gly1128Ala) rs113994088
NM_004304.5(ALK):c.3455T>G (p.Leu1152Arg) rs1057519785
NM_004304.5(ALK):c.3497T>G (p.Met1166Arg) rs1057520019
NM_004304.5(ALK):c.3520T>C (p.Phe1174Leu) rs281864719
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.3575G>C (p.Arg1192Pro) rs113994089
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.3733T>A (p.Phe1245Ile) rs281864720
NM_004304.5(ALK):c.3733T>C (p.Phe1245Leu) rs281864720
NM_004304.5(ALK):c.3749T>C (p.Ile1250Thr) rs113994092
NM_004304.5(ALK):c.3806G>C (p.Gly1269Ala) rs1057519781
NM_004304.5(ALK):c.3824G>A (p.Arg1275Gln) rs113994087
NM_004304.5(ALK):c.3824G>T (p.Arg1275Leu) rs113994087
NM_004333.6(BRAF):c.1330C>T (p.Arg444Trp) rs121913371
NM_004333.6(BRAF):c.1390G>A (p.Gly464Arg) rs121913349
NM_004333.6(BRAF):c.1391G>A (p.Gly464Glu) rs121913348
NM_004333.6(BRAF):c.1391G>T (p.Gly464Val) rs121913348
NM_004333.6(BRAF):c.1396G>A (p.Gly466Arg) rs121913353
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>A (p.Gly469Arg) rs121913357
NM_004333.6(BRAF):c.1405G>C (p.Gly469Arg) rs121913357
NM_004333.6(BRAF):c.1405_1406delinsTC (p.Gly469Ser) rs1057519720
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.1411G>T (p.Val471Phe) rs121913376
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.1756G>A (p.Glu586Lys) rs121913340
NM_004333.6(BRAF):c.1760A>C (p.Asp587Ala) rs121913335
NM_004333.6(BRAF):c.1761C>A (p.Asp587Glu) rs121913336
NM_004333.6(BRAF):c.1761C>G (p.Asp587Glu) rs121913336
NM_004333.6(BRAF):c.1774A>G (p.Ile592Val) rs121913363
NM_004333.6(BRAF):c.1776A>G (p.Ile592Met) rs121913362
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>C (p.Asp594Ala) rs121913338
NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly) rs121913338
NM_004333.6(BRAF):c.1783T>C (p.Phe595Leu) rs794729219
NM_004333.6(BRAF):c.1784T>C (p.Phe595Ser) rs121913225
NM_004333.6(BRAF):c.1785T>A (p.Phe595Leu) rs121913341
NM_004333.6(BRAF):c.1785T>G (p.Phe595Leu) rs121913341
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.1789C>G (p.Leu597Val) rs121913369
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.1796C>T (p.Thr599Ile) rs121913375
NM_004333.6(BRAF):c.1798G>C (p.Val600Leu) rs121913378
NM_004333.6(BRAF):c.1798G>T (p.Val600Leu) rs121913378
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu) rs113488022
NM_004333.6(BRAF):c.1799T>C (p.Val600Ala) rs113488022
NM_004333.6(BRAF):c.1799_1800delinsAA (p.Val600Glu) rs121913377
NM_004333.6(BRAF):c.1801A>G (p.Lys601Glu) rs121913364
NM_004333.6(BRAF):c.1801_1803del (p.Lys601del) rs121913226
NM_004333.6(BRAF):c.1802A>C (p.Lys601Thr) rs397507484
NM_004333.6(BRAF):c.1802A>G (p.Lys601Arg) rs397507484
NM_004333.6(BRAF):c.1803A>C (p.Lys601Asn) rs121913365
NM_004333.6(BRAF):c.1803A>T (p.Lys601Asn) rs121913365
NM_004333.6(BRAF):c.1813_1814delinsTT (p.Ser605Phe) rs121913372
NM_004333.6(BRAF):c.1814G>A (p.Ser605Asn) rs121913373
NM_004431.5(EPHA2):c.1171G>A (p.Gly391Arg) rs34192549
NM_004431.5(EPHA2):c.1171G>C (p.Gly391Arg) rs34192549
NM_004431.5(EPHA2):c.2162G>A (p.Arg721Gln) rs116506614
NM_004439.8(EPHA5):c.1745G>A (p.Gly582Glu) rs1057520012
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.2305G>A (p.Asp769Asn) rs121913468
NM_004448.3(ERBB2):c.2305G>C (p.Asp769His) rs121913468
NM_004448.3(ERBB2):c.2305G>T (p.Asp769Tyr) rs121913468
NM_004448.3(ERBB2):c.2326G>A (p.Gly776Ser) rs28933369
NM_004448.3(ERBB2):c.2326_2327insTGT (p.Gly776delinsValCys) rs397516979
NM_004448.3(ERBB2):c.2329G>A (p.Val777Met) rs121913471
NM_004448.3(ERBB2):c.2329G>C (p.Val777Leu) rs121913471
NM_004448.3(ERBB2):c.2329G>T (p.Val777Leu) rs121913471
NM_004448.3(ERBB2):c.2354T>C (p.Leu785Pro) rs1057519857
NM_004448.3(ERBB2):c.2524G>A (p.Val842Ile) rs1057519738
NM_004448.3(ERBB2):c.2570A>G (p.Asn857Ser) rs28933370
NM_004448.3(ERBB2):c.926G>A (p.Gly309Glu) rs1057519787
NM_004448.3(ERBB2):c.926G>C (p.Gly309Ala) rs1057519787
NM_004448.3(ERBB2):c.929C>A (p.Ser310Tyr) rs1057519816
NM_004448.3(ERBB2):c.929C>T (p.Ser310Phe) rs1057519816
NM_004456.4(EZH2):c.1922A>C (p.Glu641Ala) rs1057519894
NM_004456.4(EZH2):c.1922A>T (p.Glu641Val) rs1057519894
NM_004456.4(EZH2):c.1936T>A (p.Tyr646Asn) rs267601395
NM_004456.4(EZH2):c.1936T>C (p.Tyr646His) rs267601395
NM_004456.4(EZH2):c.1937A>C (p.Tyr646Ser) rs267601394
NM_004456.4(EZH2):c.1937A>T (p.Tyr646Phe) rs267601394
NM_004456.4(EZH2):c.2045C>G (p.Ala682Gly) rs1057519833
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.6040G>A (p.Glu2014Lys) rs1057519780
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.7255G>A (p.Glu2419Lys) rs587777900
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_004972.3(JAK2):c.1691G>T (p.Arg564Leu) rs368927897
NM_004972.3(JAK2):c.1849G>T (p.Val617Phe) rs77375493
NM_004972.3(JAK2):c.2047A>G (p.Arg683Gly) rs1057519721
NM_004972.3(JAK2):c.2624C>A (p.Thr875Asn) rs1057520016
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.183A>C (p.Gln61His) rs17851045
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.351A>C (p.Lys117Asn) rs770248150
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) rs121913529
NM_004985.5(KRAS):c.35G>C (p.Gly12Ala) rs121913529
NM_004985.5(KRAS):c.35G>T (p.Gly12Val) rs121913529
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp) rs112445441
NM_004985.5(KRAS):c.38G>T (p.Gly13Val) rs112445441
NM_004985.5(KRAS):c.57G>C (p.Leu19Phe) rs121913538
NM_004985.5(KRAS):c.57G>T (p.Leu19Phe) rs121913538
NM_004985.5(KRAS):c.64C>A (p.Gln22Lys) rs121913236
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_005157.6(ABL1):c.1052T>C (p.Met351Thr) rs121913457
NM_005157.6(ABL1):c.1064A>G (p.Glu355Gly) rs121913450
NM_005157.6(ABL1):c.1075T>A (p.Phe359Ile) rs121913452
NM_005157.6(ABL1):c.1075T>C (p.Phe359Leu) rs121913452
NM_005157.6(ABL1):c.1075T>G (p.Phe359Val) rs121913452
NM_005157.6(ABL1):c.1076T>G (p.Phe359Cys) rs1057519775
NM_005157.6(ABL1):c.1187A>G (p.His396Arg) rs121913454
NM_005157.6(ABL1):c.706G>A (p.Glu236Lys) rs387906517
NM_005157.6(ABL1):c.730A>G (p.Met244Val) rs121913456
NM_005157.6(ABL1):c.742C>G (p.Leu248Val) rs121913455
NM_005157.6(ABL1):c.749G>A (p.Gly250Glu) rs121913453
NM_005157.6(ABL1):c.756G>C (p.Gln252His) rs121913458
NM_005157.6(ABL1):c.756G>T (p.Gln252His) rs121913458
NM_005157.6(ABL1):c.757T>C (p.Tyr253His) rs121913461
NM_005157.6(ABL1):c.758A>T (p.Tyr253Phe) rs121913460
NM_005157.6(ABL1):c.763G>A (p.Glu255Lys) rs121913448
NM_005157.6(ABL1):c.764A>T (p.Glu255Val) rs121913449
NM_005157.6(ABL1):c.847T>G (p.Phe283Val) rs1057519758
NM_005157.6(ABL1):c.895G>C (p.Val299Leu) rs1057519771
NM_005157.6(ABL1):c.943A>G (p.Thr315Ala) rs1057519772
NM_005157.6(ABL1):c.944C>T (p.Thr315Ile) rs121913459
NM_005157.6(ABL1):c.949T>A (p.Phe317Ile) rs1057519773
NM_005157.6(ABL1):c.949T>G (p.Phe317Val) rs1057519773
NM_005157.6(ABL1):c.950T>G (p.Phe317Cys) rs1057519774
NM_005157.6(ABL1):c.951C>A (p.Phe317Leu) rs121913451
NM_005157.6(ABL1):c.951C>G (p.Phe317Leu) rs121913451
NM_005163.2(AKT1):c.235C>A (p.Gln79Lys) rs1057519804
NM_005163.2(AKT1):c.49G>A (p.Glu17Lys) rs121434592
NM_005188.3(CBL):c.1111T>C (p.Tyr371His) rs267606706
NM_005188.3(CBL):c.1150T>C (p.Cys384Arg) rs387906664
NM_005211.3(CSF1R):c.1711T>G (p.Tyr571Asp) rs1057519802
NM_005211.3(CSF1R):c.2905T>C (p.Tyr969His) rs121913393
NM_005211.3(CSF1R):c.2906A>G (p.Tyr969Cys) rs1801271
NM_005211.3(CSF1R):c.2906A>T (p.Tyr969Phe) rs1801271
NM_005211.3(CSF1R):c.2907T>A (p.Tyr969Ter) rs121913392
NM_005211.3(CSF1R):c.2907T>G (p.Tyr969Ter) rs121913392
NM_005211.3(CSF1R):c.902T>A (p.Leu301Ter) rs121913390
NM_005211.3(CSF1R):c.902T>C (p.Leu301Ser) rs121913390
NM_005211.3(CSF1R):c.903G>T (p.Leu301Phe) rs1057520014
NM_005228.5(EGFR):c.1474A>G (p.Ser492Gly) rs1057519760
NM_005228.5(EGFR):c.1636C>T (p.Pro546Ser) rs1057519830
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.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.2193G>A (p.Trp731Ter) rs121913467
NM_005228.5(EGFR):c.2198C>T (p.Pro733Leu) rs121913446
NM_005228.5(EGFR):c.2200G>A (p.Glu734Lys) rs121913420
NM_005228.5(EGFR):c.2203G>A (p.Gly735Ser) rs121913430
NM_005228.5(EGFR):c.2225T>C (p.Val742Ala) rs121913466
NM_005228.5(EGFR):c.2234A>G (p.Lys745Arg) rs121913433
NM_005228.5(EGFR):c.2236G>A (p.Glu746Lys) rs121913427
NM_005228.5(EGFR):c.2240T>C (p.Leu747Ser) rs397517097
NM_005228.5(EGFR):c.2245G>C (p.Glu749Gln) rs1057520037
NM_005228.5(EGFR):c.2248G>C (p.Ala750Pro) rs121913229
NM_005228.5(EGFR):c.2255C>A (p.Ser752Tyr) rs121913464
NM_005228.5(EGFR):c.2257C>T (p.Pro753Ser) rs121913231
NM_005228.5(EGFR):c.2281G>A (p.Asp761Asn) rs121913418
NM_005228.5(EGFR):c.2281G>T (p.Asp761Tyr) rs121913418
NM_005228.5(EGFR):c.2303G>T (p.Ser768Ile) rs121913465
NM_005228.5(EGFR):c.2318A>G (p.His773Arg) rs121913432
NM_005228.5(EGFR):c.2369C>T (p.Thr790Met) rs121434569
NM_005228.5(EGFR):c.2428G>A (p.Gly810Ser) rs121913230
NM_005228.5(EGFR):c.2429G>A (p.Gly810Asp) rs121913431
NM_005228.5(EGFR):c.2527G>A (p.Val843Ile) rs146795390
NM_005228.5(EGFR):c.2572C>A (p.Leu858Met) rs121913443
NM_005228.5(EGFR):c.2572_2573inv (p.Leu858Arg) rs1057519847
NM_005228.5(EGFR):c.2573T>A (p.Leu858Gln) rs121434568
NM_005228.5(EGFR):c.2573T>G (p.Leu858Arg) rs121434568
NM_005228.5(EGFR):c.2573_2574delinsGT (p.Leu858Arg) rs1057519848
NM_005228.5(EGFR):c.2582T>A (p.Leu861Gln) rs121913444
NM_005228.5(EGFR):c.2582T>C (p.Leu861Pro) rs121913444
NM_005228.5(EGFR):c.2582T>G (p.Leu861Arg) rs121913444
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_005235.3(ERBB4):c.1177C>T (p.Arg393Trp) rs55671017
NM_005235.3(ERBB4):c.1354G>A (p.Glu452Lys) rs202247795
NM_005235.3(ERBB4):c.1624G>A (p.Glu542Lys) rs535202189
NM_005235.3(ERBB4):c.1630C>T (p.Arg544Trp) rs267599192
NM_005235.3(ERBB4):c.2614G>A (p.Glu872Lys) rs776347334
NM_005235.3(ERBB4):c.949G>A (p.Glu317Lys) rs267599193
NM_005343.4(HRAS):c.181C>A (p.Gln61Lys) rs28933406
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>G (p.Gln61Arg) rs121913233
NM_005343.4(HRAS):c.182A>T (p.Gln61Leu) rs121913233
NM_005343.4(HRAS):c.182_183delinsGA (p.Gln61Arg) rs1057519855
NM_005343.4(HRAS):c.182_183delinsGT (p.Gln61Arg) rs1057519855
NM_005343.4(HRAS):c.183G>C (p.Gln61His) rs121913496
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>C (p.Gly12Arg) rs104894229
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys) rs104894229
NM_005343.4(HRAS):c.35G>A (p.Gly12Asp) rs104894230
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) rs104894230
NM_005343.4(HRAS):c.35G>T (p.Gly12Val) 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_005359.5(SMAD4):c.1081C>G (p.Arg361Gly) rs80338963
NM_005359.5(SMAD4):c.1081C>T (p.Arg361Cys) rs80338963
NM_005359.5(SMAD4):c.1082G>A (p.Arg361His) rs377767347
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_005373.2(MPL):c.1513A>T (p.Ser505Cys) rs1057519752
NM_005373.2(MPL):c.1514G>A (p.Ser505Asn) rs121913614
NM_005373.2(MPL):c.1544G>T (p.Trp515Leu) rs121913615
NM_005378.6(MYCN):c.131C>T (p.Pro44Leu) rs1057519919
NM_005406.3(ROCK1):c.3577C>T (p.Pro1193Ser) rs1057520015
NM_005444.3(CNOT9):c.259T>C (p.Ser87Pro) rs1057519956
NM_005444.3(CNOT9):c.260C>G (p.Ser87Cys) rs1057519957
NM_005444.3(CNOT9):c.391C>T (p.Pro131Ser) rs1057519955
NM_005444.3(CNOT9):c.392C>T (p.Pro131Leu) rs267599211
NM_005614.4(RHEB):c.103T>A (p.Tyr35Asn) rs1057519949
NM_005614.4(RHEB):c.104A>G (p.Tyr35Cys) rs1057519950
NM_005633.3(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_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_006164.5(NFE2L2):c.235G>A (p.Glu79Lys) rs1057519922
NM_006182.4(DDR2):c.1513G>A (p.Gly505Ser) rs115169993
NM_006182.4(DDR2):c.187C>G (p.Leu63Val) rs144594252
NM_006182.4(DDR2):c.1912A>T (p.Ile638Phe) rs1057519789
NM_006182.4(DDR2):c.2321G>T (p.Gly774Val) rs1057519790
NM_006182.4(DDR2):c.716T>G (p.Leu239Arg) rs578015216
NM_006182.4(DDR2):c.757G>T (p.Gly253Cys) rs376303676
NM_006206.6(PDGFRA):c.1729C>T (p.Pro577Ser) rs1057519811
NM_006206.6(PDGFRA):c.1973T>C (p.Val658Ala) rs1057519812
NM_006206.6(PDGFRA):c.2522G>A (p.Arg841Lys) rs1057519813
NM_006206.6(PDGFRA):c.2522_2527del (p.Arg841_Asp842del) rs121913269
NM_006206.6(PDGFRA):c.2524G>T (p.Asp842Tyr) rs121913265
NM_006206.6(PDGFRA):c.2524_2525delinsAT (p.Asp842Ile) rs121913264
NM_006206.6(PDGFRA):c.2524_2532del (p.Asp842_Met844del) rs121913262
NM_006206.6(PDGFRA):c.2526_2537del (p.Ile843_Asp846del) rs1553906053
NM_006206.6(PDGFRA):c.2527_2538del (p.Ile843_Asp846del) rs121913267
NM_006206.6(PDGFRA):c.2533C>T (p.His845Tyr) rs1057519814
NM_006206.6(PDGFRA):c.2536G>T (p.Asp846Tyr) rs121908588
NM_006206.6(PDGFRA):c.2558G>A (p.Gly853Asp) rs763576329
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.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.1616C>G (p.Pro539Arg) rs121913285
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>C (p.Glu545Asp) rs121913275
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.2102A>C (p.His701Pro) rs121913282
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.3062A>G (p.Tyr1021Cys) rs121913288
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.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.3145G>A (p.Gly1049Ser) rs121913277
NM_006218.4(PIK3CA):c.3145G>C (p.Gly1049Arg) 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_006218.4(PIK3CA):c.353G>A (p.Gly118Asp) rs587777790
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_006758.2(U2AF1):c.101C>A (p.Ser34Tyr) rs371769427
NM_006758.2(U2AF1):c.101C>T (p.Ser34Phe) rs371769427
NM_006758.2(U2AF1):c.470A>C (p.Gln157Pro) rs371246226
NM_006758.2(U2AF1):c.470A>G (p.Gln157Arg) rs371246226
NM_006842.3(SF3B2):c.1997A>C (p.His666Pro) rs1057519959
NM_006842.3(SF3B2):c.2099A>G (p.Glu700Gly) rs1057519960
NM_007194.4(CHEK2):c.1040A>C (p.Asp347Ala) rs786202676
NM_007194.4(CHEK2):c.1183G>T (p.Val395Phe) rs587780170
NM_012433.3(SF3B1):c.1873C>G (p.Arg625Gly) rs775623976
NM_012433.3(SF3B1):c.1873C>T (p.Arg625Cys) rs775623976
NM_012433.3(SF3B1):c.1874G>A (p.Arg625His) rs1057519961
NM_012433.3(SF3B1):c.1996A>C (p.Lys666Gln) rs754688962
NM_012433.3(SF3B1):c.1996A>G (p.Lys666Glu) rs754688962
NM_012433.3(SF3B1):c.1997A>C (p.Lys666Thr) rs374250186
NM_012433.3(SF3B1):c.1997A>G (p.Lys666Arg) rs374250186
NM_012433.3(SF3B1):c.1998G>C (p.Lys666Asn) rs377023736
NM_012433.3(SF3B1):c.1998G>T (p.Lys666Asn) rs377023736
NM_012433.3(SF3B1):c.2098A>C (p.Lys700Gln) rs559063155
NM_012433.3(SF3B1):c.2098A>G (p.Lys700Glu) rs559063155
NM_012433.3(SF3B1):c.2098A>T (p.Lys700Ter) rs559063155
NM_012433.3(SF3B1):c.2099A>C (p.Lys700Thr) rs1057519756
NM_012433.3(SF3B1):c.2099A>G (p.Lys700Arg) rs1057519756
NM_012433.3(SF3B1):c.2099A>T (p.Lys700Ile) rs1057519756
NM_012433.3(SF3B1):c.2100A>C (p.Lys700Asn) rs1057519755
NM_012433.3(SF3B1):c.2100A>T (p.Lys700Asn) rs1057519755
NM_012433.3(SF3B1):c.2225G>A (p.Gly742Asp) rs755415626
NM_014225.6(PPP2R1A):c.536C>G (p.Pro179Arg) rs786205228
NM_014225.6(PPP2R1A):c.536C>T (p.Pro179Leu) rs786205228
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_018890.4(RAC1):c.85C>A (p.Pro29Thr) rs1057519874
NM_018890.4(RAC1):c.85C>T (p.Pro29Ser) rs1057519874
NM_018890.4(RAC1):c.86C>T (p.Pro29Leu) rs1057519948
NM_020975.6(RET):c.1826G>A (p.Cys609Tyr) rs77939446
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.1900T>C (p.Cys634Arg) rs75076352
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.2304G>C (p.Glu768Asp) rs78014899
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903
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.2671T>G (p.Ser891Ala) rs75234356
NM_020975.6(RET):c.2694_2705del (p.Asp898_Glu901del) rs121913309
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_022552.4(DNMT3A):c.2644C>T (p.Arg882Cys) rs377577594
NM_022552.4(DNMT3A):c.2645G>A (p.Arg882His) rs147001633
NM_022552.4(DNMT3A):c.2645G>C (p.Arg882Pro) rs147001633
NM_022970.3(FGFR2):c.959C>G (p.Ser320Cys) rs1057519791
NM_023110.2(FGFR1):c.1543A>G (p.Met515Val) rs1057519899
NM_023110.2(FGFR1):c.1636A>G (p.Asn546Asp) rs1057519898
NM_023110.2(FGFR1):c.1638C>A (p.Asn546Lys) rs779707422
NM_023110.2(FGFR1):c.1966A>G (p.Lys656Glu) rs869320694
NM_023110.2(FGFR1):c.1968G>C (p.Lys656Asn) rs1057519897
NM_023110.2(FGFR1):c.374C>T (p.Ser125Leu) rs121913473
NM_023110.2(FGFR1):c.754C>A (p.Pro252Thr) rs121913472
NM_024426.6(WT1):c.1157_1158insTGTACGGT (p.Ala387fs) rs1057519745
NM_030662.3(MAP2K2):c.103G>A (p.Val35Met) rs1057519810
NM_030662.3(MAP2K2):c.136C>T (p.Leu46Phe) rs1057519809
NM_030662.3(MAP2K2):c.169T>G (p.Phe57Val) rs121434498
NM_030662.3(MAP2K2):c.171T>G (p.Phe57Leu) rs1057519910
NM_030662.3(MAP2K2):c.179A>C (p.Gln60Pro) rs1057519808
NM_030662.3(MAP2K2):c.373T>A (p.Cys125Ser) rs1057519807
NM_030662.3(MAP2K2):c.376A>G (p.Asn126Asp) rs1057519806
NM_030906.4(STK33):c.969T>G (p.Phe323Leu) rs1057520013
NM_033286.3(KNSTRN):c.71C>T (p.Ser24Phe) rs868438023
NM_156039.3(CSF3R):c.1843A>G (p.Thr615Ala) rs1057519776
NM_156039.3(CSF3R):c.1853C>T (p.Thr618Ile) rs796065343
NM_178170.3(NEK8):c.589G>C (p.Ala197Pro) rs756231248
NM_181523.2(PIK3R1):c.1747_1749delTGG (p.Trp583del) rs1131692243
NM_181523.3(PIK3R1):c.1126G>A (p.Gly376Arg) rs1057519757
NM_181523.3(PIK3R1):c.1126G>C (p.Gly376Arg) rs1057519757
NM_181523.3(PIK3R1):c.1314_1316AGA[1] (p.Glu439del) rs1131692242
NM_181523.3(PIK3R1):c.1381C>T (p.Arg461Ter) rs1057519838
NM_181523.3(PIK3R1):c.1678G>T (p.Asp560Tyr) rs1057519839
NM_181523.3(PIK3R1):c.1678_1695del (p.Asp560_Ser565del) rs1057519840
NM_181523.3(PIK3R1):c.1690A>G (p.Asn564Asp) rs1057519841
NM_181523.3(PIK3R1):c.1692C>A (p.Asn564Lys) rs773686816
NM_181523.3(PIK3R1):c.1692C>G (p.Asn564Lys) rs773686816
NM_181523.3(PIK3R1):c.1727_1729del (p.Thr576del) rs1057519842
NM_198291.2(SRC):c.1591C>T (p.Gln531Ter) rs121913314
NM_213647.3(FGFR4):c.1100A>G (p.Tyr367Cys) rs1057520036
NM_213647.3(FGFR4):c.1605C>A (p.Asn535Lys) rs1057519792
NM_213647.3(FGFR4):c.1605C>G (p.Asn535Lys) rs1057519792
NM_213647.3(FGFR4):c.1649T>A (p.Val550Glu) rs1057519793

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