ClinVar Miner

List of variants reported as uncertain significance for Moyamoya syndrome

Included ClinVar conditions (48):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 979
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HGVS dbSNP
NC_000001.10:g.(?_155880221)_(156109650_?)del
NC_000002.12:g.38981747C>A
NC_000002.12:g.38981748G>A
NC_000002.12:g.38981810A>G
NC_000002.12:g.38981835C>G
NC_000002.12:g.38982013A>G
NC_000002.12:g.38982074A>G
NC_000002.12:g.38982498A>G
NC_000002.12:g.38982533G>A
NC_000002.12:g.38982572T>G
NC_000002.12:g.38982594A>G
NC_000002.12:g.38982666A>G
NC_000002.12:g.38982675G>A
NC_000002.12:g.38982783T>G
NC_000002.12:g.38982931G>T
NC_000002.12:g.38983162C>T
NC_000002.12:g.38983312G>T
NC_000002.12:g.38983567G>C
NC_000002.12:g.38983578T>A
NC_000002.12:g.38983768T>G
NC_000002.12:g.38983826C>A
NC_000002.12:g.38984062T>G
NC_000002.12:g.38984183T>C
NC_000002.12:g.38984289C>T
NC_000002.12:g.38984347C>T
NC_000002.12:g.38984412T>C
NC_000002.12:g.38984428C>A
NC_000002.12:g.38984433G>A
NC_000002.12:g.38984554A>G
NC_000002.12:g.38984775C>A
NC_000002.12:g.38984951G>A
NC_000002.12:g.38985160G>A
NC_000002.12:g.38985265G>A
NC_000002.12:g.38985341T>G
NC_000002.12:g.38985403T>C
NC_000002.12:g.38985416G>A
NC_000002.12:g.38985594A>G
NC_000002.12:g.38985606A>C
NC_000002.12:g.38985639T>C
NC_000002.12:g.38985714G>T
NC_000002.12:g.38985803T>C
NC_000002.12:g.38986234T>C
NC_000002.12:g.39006536G>A
NC_000002.12:g.39022768G>T
NC_000002.12:g.39022793C>T
NC_000002.12:g.39051278T>C
NC_000002.12:g.39054664T>C
NC_000003.12:g.12664140G>C
NC_000011.10:g.(?_532616)_(534342_?)dup
NC_000011.10:g.(?_532636)_(534322_?)del
NC_000011.10:g.(?_532636)_(534322_?)dup
NC_000011.10:g.(?_534206)_(534328_?)dup
NC_000011.9:g.(?_532626)_(534332_?)dup
NC_000011.9:g.(?_532631)_(532755_?)dup
NC_000011.9:g.(?_532631)_(534375_?)dup
NC_000012.12:g.112418936G>T
NC_000014.8:g.(?_50092240)_(50698021_?)dup
NC_000014.9:g.(?_50188487)_(50204419_?)dup
NC_000021.9:g.46445778G>A
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415
NM_000518.4(HBB):c.34G>A (p.Val12Ile) rs33974228
NM_000518.5(HBB):c.*18C>A
NM_000518.5(HBB):c.*53C>A rs886048393
NM_000518.5(HBB):c.*56A>T rs537944366
NM_000518.5(HBB):c.*59A>G
NM_000518.5(HBB):c.246C>A (p.Leu82=) rs145669504
NM_000518.5(HBB):c.274C>T (p.Leu92=) rs769583496
NM_000518.5(HBB):c.294C>T (p.His98=) rs34515413
NM_000518.5(HBB):c.324C>T (p.Gly108=) rs193922562
NM_000518.5(HBB):c.402G>C (p.Val134=) rs113082294
NM_000518.5(HBB):c.85C>T (p.Leu29=)
NM_000518.5(HBB):c.92+6T>C rs35724775
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857
NM_001320141.2(RPL6):c.-296G>C
NM_001320141.2(RPL6):c.-322C>T
NM_001354689.3(RAF1):c.*113T>G rs886057914
NM_001354689.3(RAF1):c.*120C>A
NM_001354689.3(RAF1):c.*162T>C rs886057913
NM_001354689.3(RAF1):c.*190G>A rs528863135
NM_001354689.3(RAF1):c.*410A>G
NM_001354689.3(RAF1):c.*627C>T rs879160471
NM_001354689.3(RAF1):c.*628G>T
NM_001354689.3(RAF1):c.*630A>G
NM_001354689.3(RAF1):c.*640T>C rs759464247
NM_001354689.3(RAF1):c.*643C>G
NM_001354689.3(RAF1):c.*647G>T
NM_001354689.3(RAF1):c.*706C>T
NM_001354689.3(RAF1):c.*729_*732AACA[4] rs371820097
NM_001354689.3(RAF1):c.*729_*732AACA[6] rs371820097
NM_001354689.3(RAF1):c.*73T>A
NM_001354689.3(RAF1):c.*840A>T
NM_001354689.3(RAF1):c.*841C>T
NM_001354689.3(RAF1):c.-107C>T
NM_001354689.3(RAF1):c.-110G>A rs886057917
NM_001354689.3(RAF1):c.-139T>G rs886057918
NM_001354689.3(RAF1):c.-146C>G rs886057919
NM_001354689.3(RAF1):c.-181T>C rs886057920
NM_001354689.3(RAF1):c.-201C>A rs532668125
NM_001354689.3(RAF1):c.-204G>C rs547543588
NM_001354689.3(RAF1):c.-209G>A rs727504351
NM_001354689.3(RAF1):c.-264C>G
NM_001354689.3(RAF1):c.-27+7G>A rs886057916
NM_001354689.3(RAF1):c.-53G>A
NM_001354689.3(RAF1):c.-59C>G
NM_001354689.3(RAF1):c.119G>A (p.Arg40His) rs192632236
NM_001354689.3(RAF1):c.122G>A (p.Arg41Gln) rs145611571
NM_001354689.3(RAF1):c.124G>A (p.Ala42Thr) rs200856000
NM_001354689.3(RAF1):c.125C>T (p.Ala42Val) rs11549992
NM_001354689.3(RAF1):c.1352A>C (p.Lys451Thr)
NM_001354689.3(RAF1):c.1527G>C (p.Leu509Phe) rs1553610155
NM_001354689.3(RAF1):c.1781A>G (p.Tyr594Cys) rs370242565
NM_001354689.3(RAF1):c.1874C>T (p.Ser625Phe) rs730881004
NM_001354689.3(RAF1):c.1890A>G (p.Gln630=) rs141791080
NM_001354689.3(RAF1):c.21T>C (p.Ala7=) rs886057915
NM_001354689.3(RAF1):c.231C>T (p.Ser77=) rs1450510914
NM_001354689.3(RAF1):c.462C>G (p.Ile154Met) rs367732360
NM_001354689.3(RAF1):c.600T>C (p.Thr200=) rs779808613
NM_001354689.3(RAF1):c.601A>G (p.Ile201Val) rs757700986
NM_001354689.3(RAF1):c.654A>G (p.Arg218=)
NM_001354689.3(RAF1):c.659_660del (p.Ser220fs)
NM_001354689.3(RAF1):c.680+6T>C rs371846795
NM_001354689.3(RAF1):c.903T>A (p.Ile301=)
NM_001354689.3(RAF1):c.969A>C (p.Thr323=) rs5746219
NM_001354689.3(RAF1):c.993C>T (p.Pro331=) rs1553613022
NM_001354689.3(RAF1):c.994G>A (p.Val332Met) rs555034652
NM_001374258.1(BRAF):c.-12C>T
NM_001374258.1(BRAF):c.-56C>T
NM_001374258.1(BRAF):c.1056T>A (p.Asp352Glu)
NM_001374258.1(BRAF):c.1066C>G (p.Gln356Glu)
NM_001374258.1(BRAF):c.1068A>G (p.Gln356=) rs143335467
NM_001374258.1(BRAF):c.1300T>C (p.Ser434Pro)
NM_001374258.1(BRAF):c.1452G>A (p.Arg484=) rs56101602
NM_001374258.1(BRAF):c.1575G>T (p.Leu525Phe) rs180177036
NM_001374258.1(BRAF):c.1689A>G (p.Pro563=)
NM_001374258.1(BRAF):c.1814+14G>A rs184144181
NM_001374258.1(BRAF):c.2063A>G (p.Glu688Gly)
NM_001374258.1(BRAF):c.2401+144G>C
NM_001374258.1(BRAF):c.2401+163A>G
NM_001374258.1(BRAF):c.2401+223A>G
NM_001374258.1(BRAF):c.2401+236T>C
NM_001374258.1(BRAF):c.2401+27T>C rs727502903
NM_001374258.1(BRAF):c.316G>A (p.Gly106Arg) rs749247588
NM_001374258.1(BRAF):c.469G>A (p.Val157Ile) rs1258111302
NM_001374258.1(BRAF):c.563G>C (p.Arg188Thr)
NM_001374258.1(BRAF):c.64G>A (p.Asp22Asn) rs397507456
NM_001374258.1(BRAF):c.708C>T (p.Asn236=) rs138333692
NM_002524.4(NRAS):c.-132C>T rs886045109
NM_002524.4(NRAS):c.-179G>C rs886045110
NM_002524.4(NRAS):c.-209A>G rs886045111
NM_002524.4(NRAS):c.-242G>C rs886045112
NM_002524.4(NRAS):c.-245C>T rs886045113
NM_002524.5(NRAS):c.*1062_*1063del rs775070295
NM_002524.5(NRAS):c.*1105C>T
NM_002524.5(NRAS):c.*111A>G rs188272768
NM_002524.5(NRAS):c.*1382G>T rs886045105
NM_002524.5(NRAS):c.*1466A>T
NM_002524.5(NRAS):c.*1509A>G
NM_002524.5(NRAS):c.*1571A>G
NM_002524.5(NRAS):c.*1629C>G
NM_002524.5(NRAS):c.*1643G>C rs571329214
NM_002524.5(NRAS):c.*1656C>T rs886045104
NM_002524.5(NRAS):c.*1845T>C
NM_002524.5(NRAS):c.*1887T>C
NM_002524.5(NRAS):c.*1914A>G
NM_002524.5(NRAS):c.*1936C>G
NM_002524.5(NRAS):c.*1974T>C
NM_002524.5(NRAS):c.*2178G>A rs886045103
NM_002524.5(NRAS):c.*2188C>A
NM_002524.5(NRAS):c.*2226G>C
NM_002524.5(NRAS):c.*2328G>A
NM_002524.5(NRAS):c.*2412G>A
NM_002524.5(NRAS):c.*2513T>A rs150969241
NM_002524.5(NRAS):c.*2523A>G
NM_002524.5(NRAS):c.*2546C>T rs778203603
NM_002524.5(NRAS):c.*2589G>A
NM_002524.5(NRAS):c.*2618A>G
NM_002524.5(NRAS):c.*2630G>A rs886045102
NM_002524.5(NRAS):c.*2677A>T rs886045101
NM_002524.5(NRAS):c.*2714G>T rs886045100
NM_002524.5(NRAS):c.*2767C>T
NM_002524.5(NRAS):c.*2805T>C rs776606789
NM_002524.5(NRAS):c.*2811C>A
NM_002524.5(NRAS):c.*2844T>A rs530053161
NM_002524.5(NRAS):c.*2860G>A rs886045099
NM_002524.5(NRAS):c.*3020A>G
NM_002524.5(NRAS):c.*3062C>T rs886045098
NM_002524.5(NRAS):c.*3103G>T
NM_002524.5(NRAS):c.*3341A>T
NM_002524.5(NRAS):c.*3362T>C
NM_002524.5(NRAS):c.*3392T>C rs886045097
NM_002524.5(NRAS):c.*3404T>C rs185234485
NM_002524.5(NRAS):c.*340G>A
NM_002524.5(NRAS):c.*3430T>A
NM_002524.5(NRAS):c.*344A>G rs746680042
NM_002524.5(NRAS):c.*536C>T rs886045108
NM_002524.5(NRAS):c.*651C>T
NM_002524.5(NRAS):c.*774A>G rs886045107
NM_002524.5(NRAS):c.*935dup rs886045106
NM_002524.5(NRAS):c.-106G>T rs755583487
NM_002524.5(NRAS):c.112-6C>G
NM_002524.5(NRAS):c.112-8A>G rs9724626
NM_002524.5(NRAS):c.250A>G (p.Ile84Val) rs376177995
NM_002524.5(NRAS):c.360G>A (p.Leu120=) rs143020946
NM_002524.5(NRAS):c.380C>G (p.Thr127Arg) rs779899354
NM_002524.5(NRAS):c.553C>T (p.Pro185Ser) rs374061873
NM_002755.3(MAP2K1):c.-220C>T rs886051365
NM_002755.3(MAP2K1):c.-405T>G rs886051363
NM_002755.3(MAP2K1):c.-456C>G rs886051362
NM_002755.3(MAP2K1):c.-461C>T rs886051361
NM_002755.3(MAP2K1):c.323G>T (p.Arg108Leu) rs727504819
NM_002755.3(MAP2K1):c.370C>T (p.Pro124Ser) rs1057519732
NM_002755.3(MAP2K1):c.503A>G (p.Lys168Arg) rs886051366
NM_002755.3(MAP2K1):c.961C>T (p.Pro321Ser) rs771613524
NM_002755.4(MAP2K1):c.1068+12_1068+15del rs397516788
NM_002755.4(MAP2K1):c.1068+9A>G rs368800650
NM_002755.4(MAP2K1):c.1069-12C>A rs781412352
NM_002755.4(MAP2K1):c.1130C>T (p.Ser377Phe) rs371140798
NM_002755.4(MAP2K1):c.1137C>T (p.Ile379=) rs150841154
NM_002834.4(PTPN11):c.*1015C>G rs538946251
NM_002834.4(PTPN11):c.*1035A>G rs886048970
NM_002834.4(PTPN11):c.*1157_*1159ATG[13] rs80269561
NM_002834.4(PTPN11):c.*1157_*1159ATG[16] rs80269561
NM_002834.4(PTPN11):c.*1157_*1159ATG[17] rs80269561
NM_002834.4(PTPN11):c.*1332G>A rs886048973
NM_002834.4(PTPN11):c.*1536T>G rs371375321
NM_002834.4(PTPN11):c.*1588C>G rs886048974
NM_002834.4(PTPN11):c.*1729A>G rs886048975
NM_002834.4(PTPN11):c.*1806G>A rs766598691
NM_002834.4(PTPN11):c.*1946G>A rs886048976
NM_002834.4(PTPN11):c.*2493C>T rs886048977
NM_002834.4(PTPN11):c.*2540G>T rs886048978
NM_002834.4(PTPN11):c.*2731G>A rs768622106
NM_002834.4(PTPN11):c.*2907A>C rs886048979
NM_002834.4(PTPN11):c.*2928A>T rs565075386
NM_002834.4(PTPN11):c.*3231T>G rs769489372
NM_002834.4(PTPN11):c.*3244A>G rs763237386
NM_002834.4(PTPN11):c.*325G>A rs192080780
NM_002834.4(PTPN11):c.*3300T>C rs886048980
NM_002834.4(PTPN11):c.*3720T>C rs886048981
NM_002834.4(PTPN11):c.*4019C>T rs886048982
NM_002834.4(PTPN11):c.*41_*46del rs886048967
NM_002834.4(PTPN11):c.*50C>T rs730880328
NM_002834.4(PTPN11):c.*656del rs886048968
NM_002834.4(PTPN11):c.*687C>T rs748512308
NM_002834.4(PTPN11):c.*740C>T rs886048969
NM_002834.4(PTPN11):c.-139G>A rs886048964
NM_002834.4(PTPN11):c.-179G>C rs545369072
NM_002834.4(PTPN11):c.-245C>G rs886048963
NM_002834.4(PTPN11):c.1048T>G (p.Ser350Ala) rs146571700
NM_002834.4(PTPN11):c.1190C>T (p.Thr397Met) rs767503386
NM_002834.4(PTPN11):c.1221A>G (p.Gly407=) rs532529560
NM_002834.4(PTPN11):c.1277A>C (p.His426Pro) rs727505389
NM_002834.4(PTPN11):c.1361C>T (p.Pro454Leu) rs1566185599
NM_002834.4(PTPN11):c.1379+6A>G rs746958309
NM_002834.4(PTPN11):c.1380-14C>G rs193922657
NM_002834.4(PTPN11):c.14+8G>T rs886048965
NM_002834.4(PTPN11):c.1579C>T (p.Arg527Cys) rs191525506
NM_002834.4(PTPN11):c.1599+4C>A rs142606486
NM_002834.4(PTPN11):c.473G>C (p.Gly158Ala) rs1555267825
NM_002834.4(PTPN11):c.53A>G (p.Asn18Ser) rs587778635
NM_002834.4(PTPN11):c.824A>C (p.Asn275Thr) rs397507528
NM_002834.4(PTPN11):c.853+8T>C rs886048966
NM_002834.5(PTPN11):c.*1038G>A
NM_002834.5(PTPN11):c.*1419G>A
NM_002834.5(PTPN11):c.*1520C>T
NM_002834.5(PTPN11):c.*1616C>T
NM_002834.5(PTPN11):c.*1830G>A
NM_002834.5(PTPN11):c.*2096T>G
NM_002834.5(PTPN11):c.*2150G>T
NM_002834.5(PTPN11):c.*2179C>T
NM_002834.5(PTPN11):c.*2608C>T
NM_002834.5(PTPN11):c.*2822A>G
NM_002834.5(PTPN11):c.*3971A>G
NM_002834.5(PTPN11):c.*474A>G
NM_002834.5(PTPN11):c.*64C>G
NM_002834.5(PTPN11):c.*673G>A
NM_002834.5(PTPN11):c.*682T>C
NM_002834.5(PTPN11):c.*684G>A
NM_002834.5(PTPN11):c.*720C>T
NM_002834.5(PTPN11):c.*799G>A
NM_002834.5(PTPN11):c.*802G>A
NM_002834.5(PTPN11):c.-151C>A
NM_002834.5(PTPN11):c.-161T>A
NM_002834.5(PTPN11):c.-71C>T
NM_002834.5(PTPN11):c.-77G>A
NM_002834.5(PTPN11):c.1449T>G (p.Gly483=) rs143238917
NM_002834.5(PTPN11):c.1650G>A (p.Ala550=) rs374896287
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met) rs148176616
NM_002834.5(PTPN11):c.1678C>T (p.Leu560Phe) rs397516797
NM_002834.5(PTPN11):c.1682C>T (p.Pro561Leu) rs141140214
NM_002834.5(PTPN11):c.392A>G (p.Lys131Arg) rs397516805
NM_002834.5(PTPN11):c.48A>G (p.Ala16=) rs372736227
NM_002834.5(PTPN11):c.526-8C>A rs184804143
NM_002834.5(PTPN11):c.556C>T (p.Arg186Trp) rs143433437
NM_002834.5(PTPN11):c.925A>G (p.Ile309Val) rs201787206
NM_002880.3(RAF1):c.-339_-338AG[1] rs527774250
NM_004333.6(BRAF):c.*3C>T rs746680490
NM_004333.6(BRAF):c.1023A>G (p.Pro341=) rs56092510
NM_004333.6(BRAF):c.1024A>G (p.Ile342Val) rs201481342
NM_004333.6(BRAF):c.1166G>A (p.Arg389His) rs577372072
NM_004333.6(BRAF):c.1205C>G (p.Pro402Arg) rs199927105
NM_004333.6(BRAF):c.1237G>A (p.Val413Met) rs377093637
NM_004333.6(BRAF):c.1495A>C (p.Lys499Gln)
NM_004333.6(BRAF):c.1796C>T (p.Thr599Ile) rs121913375
NM_004333.6(BRAF):c.1940A>G (p.Tyr647Cys) rs1562939198
NM_004333.6(BRAF):c.2128-15dup rs373442098
NM_004333.6(BRAF):c.2128-16_2128-15del rs886062015
NM_004333.6(BRAF):c.2128-27_2128-16delinsTCT rs886062016
NM_004333.6(BRAF):c.2128-36dup rs60814637
NM_004333.6(BRAF):c.2128-4del rs886062014
NM_004333.6(BRAF):c.2196C>G (p.Ser732=) rs142592480
NM_004333.6(BRAF):c.437G>A (p.Arg146Gln) rs557241012
NM_004333.6(BRAF):c.72G>C (p.Glu24Asp) rs587778114
NM_004333.6(BRAF):c.793G>C (p.Gly265Arg) rs397516905
NM_004333.6(BRAF):c.981-14C>A rs200002171
NM_004409.5(DMPK):c.161-189T>C rs752437441
NM_005188.3(CBL):c.2519G>C (p.Cys840Ser) rs376536789
NM_005343.4(HRAS):c.106A>G (p.Ile36Val) rs1060502663
NM_005343.4(HRAS):c.111+6C>T rs377130570
NM_005343.4(HRAS):c.112-7_112-5del
NM_005343.4(HRAS):c.133G>A (p.Val45Ile)
NM_005343.4(HRAS):c.174_192del (p.Gly60fs) rs878854757
NM_005343.4(HRAS):c.175G>A (p.Ala59Thr) rs727503093
NM_005343.4(HRAS):c.178G>A (p.Gly60Ser)
NM_005343.4(HRAS):c.17_19TGG[3] (p.Val9del)
NM_005343.4(HRAS):c.186_206dup (p.Glu62_Arg68dup) rs1554884966
NM_005343.4(HRAS):c.188_230dup (p.Phe78fs)
NM_005343.4(HRAS):c.203G>A (p.Arg68Gln) rs730880461
NM_005343.4(HRAS):c.238T>A (p.Cys80Ser) rs1370566417
NM_005343.4(HRAS):c.275A>C (p.Asp92Ala)
NM_005343.4(HRAS):c.277A>G (p.Ile93Val) rs587782949
NM_005343.4(HRAS):c.280C>T (p.His94Tyr)
NM_005343.4(HRAS):c.282C>G (p.His94Gln)
NM_005343.4(HRAS):c.290+6C>A rs878854758
NM_005343.4(HRAS):c.290+9C>G
NM_005343.4(HRAS):c.302A>G (p.Lys101Arg) rs1131691997
NM_005343.4(HRAS):c.317C>G (p.Ser106Trp) rs730880462
NM_005343.4(HRAS):c.317C>T (p.Ser106Leu) rs730880462
NM_005343.4(HRAS):c.31G>A (p.Ala11Thr) rs727504496
NM_005343.4(HRAS):c.332T>C (p.Met111Thr) rs1564789063
NM_005343.4(HRAS):c.367C>T (p.Arg123Cys) rs369106578
NM_005343.4(HRAS):c.368G>C (p.Arg123Pro) rs730880464
NM_005343.4(HRAS):c.36C>T (p.Gly12=) rs727504424
NM_005343.4(HRAS):c.382C>T (p.Arg128Trp)
NM_005343.4(HRAS):c.383G>C (p.Arg128Pro) rs1554884794
NM_005343.4(HRAS):c.388G>C (p.Ala130Pro) rs1564788957
NM_005343.4(HRAS):c.391C>T (p.Gln131Ter) rs376688893
NM_005343.4(HRAS):c.394G>A (p.Asp132Asn) rs759893630
NM_005343.4(HRAS):c.397C>T (p.Leu133Phe) rs776888712
NM_005343.4(HRAS):c.398T>A (p.Leu133His) rs766801436
NM_005343.4(HRAS):c.401C>T (p.Ala134Val) rs397517141
NM_005343.4(HRAS):c.410A>C (p.Tyr137Ser)
NM_005343.4(HRAS):c.412G>A (p.Gly138Ser) rs397517142
NM_005343.4(HRAS):c.413G>A (p.Gly138Asp) rs1554884772
NM_005343.4(HRAS):c.418C>T (p.Pro140Ser) rs144001095
NM_005343.4(HRAS):c.41T>G (p.Val14Gly)
NM_005343.4(HRAS):c.422A>G (p.Tyr141Cys)
NM_005343.4(HRAS):c.424A>C (p.Ile142Leu) rs1564788848
NM_005343.4(HRAS):c.445C>T (p.Arg149Trp) rs1554884750
NM_005343.4(HRAS):c.450+139dup rs35613389
NM_005343.4(HRAS):c.451-3C>T
NM_005343.4(HRAS):c.452G>C (p.Gly151Ala) rs1362209698
NM_005343.4(HRAS):c.45C>T (p.Gly15=) rs727504614
NM_005343.4(HRAS):c.460G>A (p.Asp154Asn) rs745497215
NM_005343.4(HRAS):c.461A>T (p.Asp154Val) rs1434040739
NM_005343.4(HRAS):c.473C>T (p.Thr158Met) rs587778400
NM_005343.4(HRAS):c.481C>T (p.Arg161Cys)
NM_005343.4(HRAS):c.487A>T (p.Ile163Phe) rs1564787934
NM_005343.4(HRAS):c.490C>T (p.Arg164Trp) rs779101895
NM_005343.4(HRAS):c.491G>C (p.Arg164Pro)
NM_005343.4(HRAS):c.498C>A (p.His166Gln) rs878854760
NM_005343.4(HRAS):c.4A>G (p.Thr2Ala) rs878854761
NM_005343.4(HRAS):c.505C>T (p.Arg169Trp) rs151229168
NM_005343.4(HRAS):c.506G>A (p.Arg169Gln) rs142218590
NM_005343.4(HRAS):c.508A>T (p.Lys170Ter) rs372936166
NM_005343.4(HRAS):c.518C>T (p.Pro173Leu) rs1171786943
NM_005343.4(HRAS):c.520C>G (p.Pro174Ala)
NM_005343.4(HRAS):c.532G>C (p.Gly178Arg)
NM_005343.4(HRAS):c.538G>A (p.Gly180Ser)
NM_005343.4(HRAS):c.546G>A (p.Met182Ile) rs748639813
NM_005343.4(HRAS):c.548G>A (p.Ser183Asn)
NM_005343.4(HRAS):c.552dup (p.Lys185fs) rs1554884418
NM_005343.4(HRAS):c.565T>G (p.Ser189Ala)
NM_005343.4(HRAS):c.5C>T (p.Thr2Met)
NM_005343.4(HRAS):c.81T>C (p.His27=) rs12628
NM_005633.3(SOS1):c.*1094_*1097delTTTG rs886056016
NM_005633.3(SOS1):c.*1224A>G rs886056015
NM_005633.3(SOS1):c.*1303C>A rs115153488
NM_005633.3(SOS1):c.*1309A>G rs145273962
NM_005633.3(SOS1):c.*1385A>G rs868000333
NM_005633.3(SOS1):c.*1589T>G rs886056014
NM_005633.3(SOS1):c.*1678C>A rs886056013
NM_005633.3(SOS1):c.*1684G>C rs886056012
NM_005633.3(SOS1):c.*1694del rs767903412
NM_005633.3(SOS1):c.*2048_*2050dup rs761591990
NM_005633.3(SOS1):c.*2063_*2066dup rs886056011
NM_005633.3(SOS1):c.*2208dup rs886056010
NM_005633.3(SOS1):c.*2218T>A rs886056009
NM_005633.3(SOS1):c.*223C>T rs886056022
NM_005633.3(SOS1):c.*2497G>A rs886056008
NM_005633.3(SOS1):c.*2503_*2506dup rs886056007
NM_005633.3(SOS1):c.*298C>G rs886056021
NM_005633.3(SOS1):c.*3189_*3192del rs572584074
NM_005633.3(SOS1):c.*3416_*3417del rs200892895
NM_005633.3(SOS1):c.*3451A>T rs78411167
NM_005633.3(SOS1):c.*3463A>G rs886056006
NM_005633.3(SOS1):c.*3566_*3568del rs886056005
NM_005633.3(SOS1):c.*3725T>C rs72799430
NM_005633.3(SOS1):c.*3727G>C rs886056004
NM_005633.3(SOS1):c.*4023T>C rs1043800
NM_005633.3(SOS1):c.*4110C>A rs886056003
NM_005633.3(SOS1):c.*4265A>G rs377303107
NM_005633.3(SOS1):c.*4C>T rs188849286
NM_005633.3(SOS1):c.*534C>T rs773935049
NM_005633.3(SOS1):c.*544C>T rs886056020
NM_005633.3(SOS1):c.*642T>C rs886056019
NM_005633.3(SOS1):c.*696G>A rs886056018
NM_005633.3(SOS1):c.*758A>T rs182650589
NM_005633.3(SOS1):c.*766del rs533720751
NM_005633.3(SOS1):c.*855G>A rs886056017
NM_005633.3(SOS1):c.*909G>A rs147219108
NM_005633.3(SOS1):c.1018C>T (p.Pro340Ser) rs190222208
NM_005633.3(SOS1):c.1098T>A (p.Asp366Glu) rs730881040
NM_005633.3(SOS1):c.109A>G (p.Thr37Ala) rs150565592
NM_005633.3(SOS1):c.1385T>A (p.Phe462Tyr) rs730881043
NM_005633.3(SOS1):c.1490G>A (p.Arg497Gln) rs371314838
NM_005633.3(SOS1):c.1564A>C (p.Asn522His) rs761094509
NM_005633.3(SOS1):c.1574T>C (p.Ile525Thr) rs146722878
NM_005633.3(SOS1):c.1659G>A (p.Met553Ile) rs886056025
NM_005633.3(SOS1):c.1720G>A (p.Val574Ile) rs727504641
NM_005633.3(SOS1):c.1727G>T (p.Arg576Ile) rs1553356023
NM_005633.3(SOS1):c.1829T>C (p.Ile610Thr) rs776146535
NM_005633.3(SOS1):c.1989A>C (p.Ile663=) rs587781172
NM_005633.3(SOS1):c.2121T>C (p.Asp707=) rs571408451
NM_005633.3(SOS1):c.225A>G (p.Gln75=) rs560037748
NM_005633.3(SOS1):c.2316G>C (p.Glu772Asp) rs1176763588
NM_005633.3(SOS1):c.233T>G (p.Phe78Cys) rs201352584
NM_005633.3(SOS1):c.2371C>A (p.Leu791Ile) rs142004123
NM_005633.3(SOS1):c.2760G>A (p.Arg920=) rs149092581
NM_005633.3(SOS1):c.2789T>C (p.Phe930Ser) rs886056024
NM_005633.3(SOS1):c.2966G>A (p.Arg989Lys) rs202043599
NM_005633.3(SOS1):c.3032A>G (p.Asn1011Ser) rs8192671
NM_005633.3(SOS1):c.3068C>G (p.Pro1023Arg)
NM_005633.3(SOS1):c.3269C>T (p.Pro1090Leu) rs730881034
NM_005633.3(SOS1):c.3286T>A (p.Ser1096Thr) rs376722127
NM_005633.3(SOS1):c.3290G>C (p.Ser1097Thr) rs727505379
NM_005633.3(SOS1):c.3347-3C>T rs779326746
NM_005633.3(SOS1):c.3392G>A (p.Arg1131Lys) rs768113420
NM_005633.3(SOS1):c.3418T>A (p.Leu1140Ile) rs375550588
NM_005633.3(SOS1):c.3433G>A (p.Asp1145Asn) rs727505383
NM_005633.3(SOS1):c.3585A>G (p.Arg1195=) rs587781173
NM_005633.3(SOS1):c.3624T>C (p.Pro1208=) rs763107563
NM_005633.3(SOS1):c.3658G>A (p.Val1220Met) rs776814547
NM_005633.3(SOS1):c.3709C>G (p.Pro1237Ala) rs371408734
NM_005633.3(SOS1):c.3793T>G (p.Ser1265Ala) rs886056023
NM_005633.3(SOS1):c.487A>G (p.Lys163Glu) rs886042206
NM_005633.3(SOS1):c.553A>G (p.Ile185Val) rs143962515
NM_005633.3(SOS1):c.587C>T (p.Ser196Leu) rs199898869
NM_005633.3(SOS1):c.5A>T (p.Gln2Leu) rs886056026
NM_005633.3(SOS1):c.643T>C (p.Tyr215His) rs730881039
NM_005633.3(SOS1):c.675T>G (p.Val225=) rs371482290
NM_005633.3(SOS1):c.848T>C (p.Phe283Ser)
NM_005633.3(SOS1):c.864+12A>C rs374379005
NM_005633.3(SOS1):c.865-4T>C rs750788947
NM_005633.3(SOS1):c.899G>A (p.Arg300Gln) rs754374236
NM_005633.3(SOS1):c.929G>A (p.Arg310His) rs143481916
NM_005633.3(SOS1):c.979A>G (p.Ile327Val) rs758546951
NM_005633.3(SOS1):c.985G>A (p.Glu329Lys) rs756679265
NM_006031.6(PCNT):c.*110G>A
NM_006031.6(PCNT):c.*126A>G
NM_006031.6(PCNT):c.*179G>A
NM_006031.6(PCNT):c.*221C>G
NM_006031.6(PCNT):c.*225G>A
NM_006031.6(PCNT):c.*234C>T
NM_006031.6(PCNT):c.*307A>G rs879391669
NM_006031.6(PCNT):c.*318A>G
NM_006031.6(PCNT):c.*421A>G rs886057198
NM_006031.6(PCNT):c.-33A>G
NM_006031.6(PCNT):c.-35T>A rs886057177
NM_006031.6(PCNT):c.1040A>G (p.Lys347Arg) rs80166001
NM_006031.6(PCNT):c.1064A>G (p.Asp355Gly)
NM_006031.6(PCNT):c.1083A>G (p.Leu361=)
NM_006031.6(PCNT):c.1107T>C (p.His369=) rs113731555
NM_006031.6(PCNT):c.1155A>G (p.Ala385=) rs201944549
NM_006031.6(PCNT):c.1181T>C (p.Ile394Thr)
NM_006031.6(PCNT):c.1185T>C (p.Phe395=) rs764314231
NM_006031.6(PCNT):c.1236T>C (p.His412=) rs769637090
NM_006031.6(PCNT):c.1370A>G (p.Glu457Gly) rs147868583
NM_006031.6(PCNT):c.138C>T (p.Val46=) rs762863150
NM_006031.6(PCNT):c.1396G>A (p.Glu466Lys)
NM_006031.6(PCNT):c.1479G>A (p.Ala493=) rs199864153
NM_006031.6(PCNT):c.1483A>G (p.Thr495Ala)
NM_006031.6(PCNT):c.1586A>G (p.Asp529Gly)
NM_006031.6(PCNT):c.1590T>C (p.Ala530=)
NM_006031.6(PCNT):c.16G>C (p.Glu6Gln) rs761540486
NM_006031.6(PCNT):c.1716A>G (p.Lys572=)
NM_006031.6(PCNT):c.1716A>T (p.Lys572Asn)
NM_006031.6(PCNT):c.1737T>C (p.Asp579=)
NM_006031.6(PCNT):c.1761+13G>A
NM_006031.6(PCNT):c.1971C>G (p.Asp657Glu) rs150892737
NM_006031.6(PCNT):c.2075T>C (p.Ile692Thr) rs886057179
NM_006031.6(PCNT):c.2154+7C>A
NM_006031.6(PCNT):c.2247A>C (p.Glu749Asp) rs202246527
NM_006031.6(PCNT):c.2358A>G (p.Ile786Met)
NM_006031.6(PCNT):c.2376A>C (p.Arg792=)
NM_006031.6(PCNT):c.2444C>T (p.Thr815Met) rs201895762
NM_006031.6(PCNT):c.244G>A (p.Ala82Thr) rs143870030
NM_006031.6(PCNT):c.2470C>T (p.Leu824=) rs61735803
NM_006031.6(PCNT):c.2545G>A (p.Gly849Arg) rs776223654
NM_006031.6(PCNT):c.2545G>T (p.Gly849Trp)
NM_006031.6(PCNT):c.2610-7G>A
NM_006031.6(PCNT):c.2610-8T>C rs377164652
NM_006031.6(PCNT):c.262G>A (p.Ala88Thr)
NM_006031.6(PCNT):c.2647A>G (p.Ser883Gly) rs771897801
NM_006031.6(PCNT):c.267+3A>G
NM_006031.6(PCNT):c.2677G>A (p.Ala893Thr) rs776133593
NM_006031.6(PCNT):c.2710C>T (p.Leu904Phe) rs61735804
NM_006031.6(PCNT):c.2714A>G (p.Gln905Arg) rs112231246
NM_006031.6(PCNT):c.2724C>G (p.His908Gln) rs746750267
NM_006031.6(PCNT):c.2742A>G (p.Ser914=) rs587784301
NM_006031.6(PCNT):c.2750C>T (p.Ala917Val)
NM_006031.6(PCNT):c.2784C>T (p.Gly928=)
NM_006031.6(PCNT):c.2833C>T (p.Arg945Cys) rs147358856
NM_006031.6(PCNT):c.2842G>A (p.Glu948Lys)
NM_006031.6(PCNT):c.3061C>T (p.Arg1021Trp) rs138361417
NM_006031.6(PCNT):c.3092G>A (p.Arg1031Gln)
NM_006031.6(PCNT):c.3108C>T (p.Thr1036=) rs182694054
NM_006031.6(PCNT):c.3206A>G (p.Lys1069Arg) rs886057180
NM_006031.6(PCNT):c.321G>T (p.Lys107Asn) rs138834119
NM_006031.6(PCNT):c.3220C>T (p.Arg1074Trp) rs200174202
NM_006031.6(PCNT):c.3221G>A (p.Arg1074Gln)
NM_006031.6(PCNT):c.3233C>A (p.Ala1078Glu) rs587784303
NM_006031.6(PCNT):c.3282G>T (p.Gln1094His) rs78484478
NM_006031.6(PCNT):c.3312+14G>A
NM_006031.6(PCNT):c.3333C>T (p.Ser1111=)
NM_006031.6(PCNT):c.336T>C (p.His112=) rs59157477
NM_006031.6(PCNT):c.3395G>A (p.Arg1132Gln) rs200148867
NM_006031.6(PCNT):c.339T>A (p.Pro113=) rs59662841
NM_006031.6(PCNT):c.3418_3420CTC[1] (p.Leu1141del) rs759470656
NM_006031.6(PCNT):c.3443T>C (p.Val1148Ala) rs762148129
NM_006031.6(PCNT):c.3464G>A (p.Arg1155Lys) rs886057181
NM_006031.6(PCNT):c.3581C>T (p.Ala1194Val) rs138254119
NM_006031.6(PCNT):c.3626C>T (p.Thr1209Ile)
NM_006031.6(PCNT):c.362_365CAGT[1] (p.Ser123fs) rs1569162602
NM_006031.6(PCNT):c.3682A>G (p.Met1228Val) rs886057182
NM_006031.6(PCNT):c.3714G>C (p.Met1238Ile) rs886057183
NM_006031.6(PCNT):c.3716G>A (p.Arg1239His) rs201315836
NM_006031.6(PCNT):c.3762G>A (p.Gln1254=) rs886057184
NM_006031.6(PCNT):c.379C>G (p.Pro127Ala) rs139106698
NM_006031.6(PCNT):c.3812T>G (p.Met1271Arg)
NM_006031.6(PCNT):c.3885T>C (p.Phe1295=) rs755298136
NM_006031.6(PCNT):c.389A>G (p.His130Arg)
NM_006031.6(PCNT):c.3992A>G (p.His1331Arg) rs34012939
NM_006031.6(PCNT):c.4056C>T (p.Ala1352=)
NM_006031.6(PCNT):c.406G>A (p.Gly136Ser) rs59183158
NM_006031.6(PCNT):c.4078C>T (p.Arg1360Cys) rs202221024
NM_006031.6(PCNT):c.4109G>A (p.Arg1370Gln) rs145055342
NM_006031.6(PCNT):c.4139C>T (p.Ala1380Val) rs201139850
NM_006031.6(PCNT):c.4140G>A (p.Ala1380=) rs372175239
NM_006031.6(PCNT):c.4175G>A (p.Arg1392Gln) rs587784304
NM_006031.6(PCNT):c.4176G>C (p.Arg1392=)
NM_006031.6(PCNT):c.4177G>T (p.Gly1393Trp)
NM_006031.6(PCNT):c.4222C>T (p.Arg1408Trp)
NM_006031.6(PCNT):c.4223G>A (p.Arg1408Gln) rs199661615
NM_006031.6(PCNT):c.427C>T (p.Arg143Cys) rs201176638
NM_006031.6(PCNT):c.428G>A (p.Arg143His) rs58106867
NM_006031.6(PCNT):c.4351C>T (p.Arg1451Cys) rs200606073
NM_006031.6(PCNT):c.4378G>A (p.Val1460Ile) rs766688176
NM_006031.6(PCNT):c.4387C>A (p.Leu1463Met) rs193261408
NM_006031.6(PCNT):c.4431G>A (p.Gln1477=) rs61735807
NM_006031.6(PCNT):c.4432C>T (p.Arg1478Trp) rs549834885
NM_006031.6(PCNT):c.445A>G (p.Ser149Gly) rs111737555
NM_006031.6(PCNT):c.445A>T (p.Ser149Cys) rs111737555
NM_006031.6(PCNT):c.4462C>T (p.Arg1488Trp)
NM_006031.6(PCNT):c.4474C>T (p.Arg1492Cys)
NM_006031.6(PCNT):c.4551T>C (p.Pro1517=)
NM_006031.6(PCNT):c.4555G>A (p.Asp1519Asn) rs762126145
NM_006031.6(PCNT):c.4563+11G>A
NM_006031.6(PCNT):c.4563+15C>T
NM_006031.6(PCNT):c.4568C>T (p.Ala1523Val)
NM_006031.6(PCNT):c.4584+11G>A
NM_006031.6(PCNT):c.4584+11G>C
NM_006031.6(PCNT):c.4584+3G>A
NM_006031.6(PCNT):c.4584+9G>T rs202096874
NM_006031.6(PCNT):c.4605G>T (p.Lys1535Asn) rs775413533
NM_006031.6(PCNT):c.4642A>G (p.Ile1548Val)
NM_006031.6(PCNT):c.4675A>T (p.Met1559Leu) rs180775012
NM_006031.6(PCNT):c.467A>G (p.His156Arg) rs61735825
NM_006031.6(PCNT):c.4681G>A (p.Glu1561Lys)
NM_006031.6(PCNT):c.4697G>A (p.Arg1566His)
NM_006031.6(PCNT):c.4769A>G (p.Asn1590Ser) rs587784307
NM_006031.6(PCNT):c.4775T>G (p.Val1592Gly) rs141276542
NM_006031.6(PCNT):c.4791+14A>G
NM_006031.6(PCNT):c.4791+8G>A
NM_006031.6(PCNT):c.481G>A (p.Val161Ile)
NM_006031.6(PCNT):c.4838C>T (p.Ala1613Val) rs546562229
NM_006031.6(PCNT):c.4844C>T (p.Thr1615Met) rs139581644
NM_006031.6(PCNT):c.4949G>A (p.Arg1650Gln)
NM_006031.6(PCNT):c.4953C>T (p.Arg1651=) rs760142269
NM_006031.6(PCNT):c.5027T>C (p.Ile1676Thr) rs140290722
NM_006031.6(PCNT):c.5039A>C (p.Asn1680Thr)
NM_006031.6(PCNT):c.505C>T (p.Arg169Cys)
NM_006031.6(PCNT):c.506G>A (p.Arg169His) rs61735823
NM_006031.6(PCNT):c.509G>C (p.Gly170Ala)
NM_006031.6(PCNT):c.5105C>T (p.Thr1702Met)
NM_006031.6(PCNT):c.513G>C (p.Met171Ile) rs142422937
NM_006031.6(PCNT):c.5199G>A (p.Lys1733=) rs61735808
NM_006031.6(PCNT):c.5257C>T (p.Leu1753=) rs886057185
NM_006031.6(PCNT):c.5320G>C (p.Glu1774Gln)
NM_006031.6(PCNT):c.533A>C (p.Gln178Pro)
NM_006031.6(PCNT):c.5341G>A (p.Gly1781Arg) rs200137805
NM_006031.6(PCNT):c.5347C>T (p.Pro1783Ser) rs61735809
NM_006031.6(PCNT):c.537G>A (p.Pro179=)
NM_006031.6(PCNT):c.5402C>A (p.Ala1801Asp) rs759289691
NM_006031.6(PCNT):c.5431C>T (p.Arg1811Cys) rs587784309
NM_006031.6(PCNT):c.545G>A (p.Arg182His)
NM_006031.6(PCNT):c.5470C>T (p.Leu1824Phe)
NM_006031.6(PCNT):c.5477G>C (p.Gly1826Ala) rs199847432
NM_006031.6(PCNT):c.55-5C>T rs587784310
NM_006031.6(PCNT):c.5543A>G (p.Glu1848Gly) rs201943167
NM_006031.6(PCNT):c.5554A>G (p.Met1852Val) rs142080697
NM_006031.6(PCNT):c.5563C>A (p.Arg1855=) rs151138182
NM_006031.6(PCNT):c.5582C>T (p.Ala1861Val) rs373238616
NM_006031.6(PCNT):c.5647C>T (p.Arg1883Trp)
NM_006031.6(PCNT):c.5648G>A (p.Arg1883Gln) rs770575971
NM_006031.6(PCNT):c.5677G>T (p.Ala1893Ser) rs587784311
NM_006031.6(PCNT):c.5679C>T (p.Ala1893=) rs761816773
NM_006031.6(PCNT):c.5698C>T (p.Arg1900Cys)
NM_006031.6(PCNT):c.5707C>T (p.Arg1903Cys) rs548190846
NM_006031.6(PCNT):c.5708G>T (p.Arg1903Leu)
NM_006031.6(PCNT):c.571A>C (p.Thr191Pro)
NM_006031.6(PCNT):c.5726C>T (p.Pro1909Leu) rs781468861
NM_006031.6(PCNT):c.5741C>T (p.Ala1914Val) rs748285536
NM_006031.6(PCNT):c.5774A>C (p.Gln1925Pro) rs587784313
NM_006031.6(PCNT):c.5792G>A (p.Arg1931His) rs776640595
NM_006031.6(PCNT):c.5792G>T (p.Arg1931Leu) rs776640595
NM_006031.6(PCNT):c.5813A>C (p.Gln1938Pro)
NM_006031.6(PCNT):c.583C>T (p.Arg195Cys)
NM_006031.6(PCNT):c.5849G>A (p.Arg1950Gln)
NM_006031.6(PCNT):c.5855C>T (p.Ala1952Val) rs370664761
NM_006031.6(PCNT):c.5874C>T (p.His1958=)
NM_006031.6(PCNT):c.5919C>T (p.Gly1973=)
NM_006031.6(PCNT):c.5937C>T (p.Thr1979=)
NM_006031.6(PCNT):c.5960A>T (p.Asp1987Val) rs374300652
NM_006031.6(PCNT):c.5975C>T (p.Pro1992Leu) rs758977418
NM_006031.6(PCNT):c.5994+4G>A rs781737632
NM_006031.6(PCNT):c.6032C>T (p.Ala2011Val) rs145119952
NM_006031.6(PCNT):c.6072C>T (p.Thr2024=) rs143671774
NM_006031.6(PCNT):c.6093G>A (p.Gln2031=) rs138543824
NM_006031.6(PCNT):c.6144C>T (p.Gly2048=)
NM_006031.6(PCNT):c.6145G>A (p.Gly2049Ser)
NM_006031.6(PCNT):c.6147C>T (p.Gly2049=)
NM_006031.6(PCNT):c.6150+10G>C rs886057186
NM_006031.6(PCNT):c.6192C>T (p.Val2064=)
NM_006031.6(PCNT):c.6195T>G (p.Asp2065Glu) rs148389745
NM_006031.6(PCNT):c.623G>A (p.Arg208His)
NM_006031.6(PCNT):c.6295C>T (p.Pro2099Ser) rs371054707
NM_006031.6(PCNT):c.6395A>G (p.Asn2132Ser) rs886057187
NM_006031.6(PCNT):c.6410dup (p.Val2138fs) rs1173590566
NM_006031.6(PCNT):c.6416C>T (p.Thr2139Ile) rs886057188
NM_006031.6(PCNT):c.644G>A (p.Cys215Tyr) rs138962786
NM_006031.6(PCNT):c.6468A>G (p.Pro2156=) rs886057189
NM_006031.6(PCNT):c.6572C>A (p.Ser2191Tyr) rs587784315
NM_006031.6(PCNT):c.6585C>T (p.Ser2195=) rs372022297
NM_006031.6(PCNT):c.6586G>A (p.Val2196Ile)
NM_006031.6(PCNT):c.6590T>C (p.Leu2197Pro) rs369420036
NM_006031.6(PCNT):c.6593G>A (p.Gly2198Asp)
NM_006031.6(PCNT):c.6633C>T (p.Pro2211=) rs587784316
NM_006031.6(PCNT):c.6644C>T (p.Pro2215Leu)
NM_006031.6(PCNT):c.6645G>A (p.Pro2215=) rs144342729
NM_006031.6(PCNT):c.6648C>T (p.Val2216=) rs527590016
NM_006031.6(PCNT):c.6722G>A (p.Ser2241Asn) rs142402562
NM_006031.6(PCNT):c.6754A>G (p.Ser2252Gly) rs886057190
NM_006031.6(PCNT):c.6761G>A (p.Cys2254Tyr) rs141635334
NM_006031.6(PCNT):c.6768C>T (p.Ala2256=)
NM_006031.6(PCNT):c.6790G>A (p.Ala2264Thr) rs771286324
NM_006031.6(PCNT):c.6819G>A (p.Gly2273=) rs200610141
NM_006031.6(PCNT):c.688C>T (p.Arg230Cys) rs143560718
NM_006031.6(PCNT):c.6914C>T (p.Thr2305Met) rs770226991
NM_006031.6(PCNT):c.6922-4A>T rs587784317
NM_006031.6(PCNT):c.6957T>G (p.Phe2319Leu) rs61735813
NM_006031.6(PCNT):c.6983C>T (p.Pro2328Leu) rs747212974
NM_006031.6(PCNT):c.7011T>C (p.Asp2337=) rs138506849
NM_006031.6(PCNT):c.7029C>T (p.Asp2343=)
NM_006031.6(PCNT):c.7061G>T (p.Gly2354Val) rs144775948
NM_006031.6(PCNT):c.7118G>A (p.Gly2373Glu) rs147670568
NM_006031.6(PCNT):c.7136C>T (p.Pro2379Leu) rs151230453
NM_006031.6(PCNT):c.7180-7G>A rs201549624
NM_006031.6(PCNT):c.7180-8C>T rs143511166
NM_006031.6(PCNT):c.7198C>T (p.Arg2400Cys) rs751297741
NM_006031.6(PCNT):c.71A>G (p.Gln24Arg)
NM_006031.6(PCNT):c.721-5C>T rs144683591
NM_006031.6(PCNT):c.721-7G>T rs2839217
NM_006031.6(PCNT):c.7224G>A (p.Ala2408=)
NM_006031.6(PCNT):c.7230A>G (p.Ser2410=)
NM_006031.6(PCNT):c.7246C>T (p.Pro2416Ser)
NM_006031.6(PCNT):c.7259C>T (p.Pro2420Leu) rs144633170
NM_006031.6(PCNT):c.7297T>C (p.Ser2433Pro) rs113536916
NM_006031.6(PCNT):c.7304A>G (p.His2435Arg) rs373432697
NM_006031.6(PCNT):c.7309G>C (p.Gly2437Arg) rs148384323
NM_006031.6(PCNT):c.7321-10C>T rs587784318
NM_006031.6(PCNT):c.7332C>T (p.Thr2444=) rs150882711
NM_006031.6(PCNT):c.7424G>A (p.Arg2475Gln) rs149779006
NM_006031.6(PCNT):c.7465G>A (p.Glu2489Lys) rs148485670
NM_006031.6(PCNT):c.7568C>T (p.Ala2523Val)
NM_006031.6(PCNT):c.7588A>G (p.Met2530Val)
NM_006031.6(PCNT):c.7593G>A (p.Thr2531=) rs372531708
NM_006031.6(PCNT):c.7648G>A (p.Glu2550Lys) rs71326327
NM_006031.6(PCNT):c.7655G>A (p.Arg2552His) rs199589423
NM_006031.6(PCNT):c.7681C>G (p.Arg2561Gly) rs751345838
NM_006031.6(PCNT):c.7690+5G>A
NM_006031.6(PCNT):c.7699C>T (p.Leu2567=)
NM_006031.6(PCNT):c.7803G>A (p.Ala2601=) rs144869229
NM_006031.6(PCNT):c.7836C>T (p.Asp2612=) rs757858684
NM_006031.6(PCNT):c.7871C>T (p.Ser2624Phe)
NM_006031.6(PCNT):c.788A>G (p.Glu263Gly) rs886057178
NM_006031.6(PCNT):c.7903C>T (p.Leu2635Phe)
NM_006031.6(PCNT):c.7913+4C>T rs376736200
NM_006031.6(PCNT):c.7939G>A (p.Glu2647Lys)
NM_006031.6(PCNT):c.7993C>T (p.Leu2665=)
NM_006031.6(PCNT):c.8028C>T (p.His2676=) rs886057191
NM_006031.6(PCNT):c.8116G>A (p.Val2706Met) rs780988556
NM_006031.6(PCNT):c.8172C>T (p.Ile2724=) rs146717642
NM_006031.6(PCNT):c.8268G>T (p.Glu2756Asp)
NM_006031.6(PCNT):c.8284C>T (p.Arg2762Trp) rs761885630
NM_006031.6(PCNT):c.8325A>G (p.Thr2775=)
NM_006031.6(PCNT):c.8398C>T (p.Arg2800Trp) rs142608069
NM_006031.6(PCNT):c.8399G>A (p.Arg2800Gln) rs146792192
NM_006031.6(PCNT):c.8401G>C (p.Val2801Leu) rs138868039
NM_006031.6(PCNT):c.8564G>A (p.Arg2855Gln) rs568559091
NM_006031.6(PCNT):c.862C>T (p.Arg288Cys)
NM_006031.6(PCNT):c.8641C>T (p.Arg2881Trp)
NM_006031.6(PCNT):c.8672C>T (p.Ala2891Val) rs144963695
NM_006031.6(PCNT):c.8702C>T (p.Pro2901Leu)
NM_006031.6(PCNT):c.8771G>A (p.Arg2924His)
NM_006031.6(PCNT):c.8810C>T (p.Thr2937Ile)
NM_006031.6(PCNT):c.8814_8815GA[2] (p.Asp2940fs) rs1214290914
NM_006031.6(PCNT):c.8829G>A (p.Ser2943=)
NM_006031.6(PCNT):c.8873G>A (p.Arg2958His) rs574728262
NM_006031.6(PCNT):c.8894C>T (p.Ala2965Val)
NM_006031.6(PCNT):c.8930C>T (p.Ala2977Val) rs146657011
NM_006031.6(PCNT):c.8942G>A (p.Arg2981Gln) rs747159043
NM_006031.6(PCNT):c.8947C>G (p.Leu2983Val) rs372356069
NM_006031.6(PCNT):c.8959C>T (p.Arg2987Trp) rs587784322
NM_006031.6(PCNT):c.8996+10C>G
NM_006031.6(PCNT):c.8996+5G>A rs886057193
NM_006031.6(PCNT):c.9099+13C>T
NM_006031.6(PCNT):c.9099+14G>A rs370266308
NM_006031.6(PCNT):c.9099+8G>T rs369178196
NM_006031.6(PCNT):c.9128A>G (p.Gln3043Arg) rs747647379
NM_006031.6(PCNT):c.9174G>A (p.Ala3058=) rs554275370
NM_006031.6(PCNT):c.9195_9196insGA (p.Lys3066fs) rs1569308924
NM_006031.6(PCNT):c.9211A>G (p.Arg3071Gly) rs886057194
NM_006031.6(PCNT):c.9235T>C (p.Leu3079=)
NM_006031.6(PCNT):c.9250C>G (p.Leu3084Val)
NM_006031.6(PCNT):c.9278C>G (p.Ser3093Trp) rs374857206
NM_006031.6(PCNT):c.9278C>T (p.Ser3093Leu)
NM_006031.6(PCNT):c.9280G>C (p.Glu3094Gln)
NM_006031.6(PCNT):c.9291T>C (p.Ala3097=) rs150554265
NM_006031.6(PCNT):c.9304G>A (p.Glu3102Lys) rs775636867
NM_006031.6(PCNT):c.931G>A (p.Ala311Thr) rs140196457
NM_006031.6(PCNT):c.947A>T (p.Glu316Val) rs201194745
NM_006031.6(PCNT):c.9532G>C (p.Gly3178Arg) rs372024492
NM_006031.6(PCNT):c.9564C>T (p.Ile3188=)
NM_006031.6(PCNT):c.9584G>A (p.Arg3195Lys) rs78524660
NM_006031.6(PCNT):c.9628C>T (p.Arg3210Cys)
NM_006031.6(PCNT):c.9632T>G (p.Phe3211Cys)
NM_006031.6(PCNT):c.9661C>T (p.Arg3221Trp) rs141304187
NM_006031.6(PCNT):c.9684C>T (p.Gly3228=)
NM_006031.6(PCNT):c.9694C>T (p.Arg3232Cys)
NM_006031.6(PCNT):c.9698C>G (p.Pro3233Arg) rs373681566
NM_006031.6(PCNT):c.9719C>T (p.Pro3240Leu) rs138860570
NM_006031.6(PCNT):c.9740G>A (p.Arg3247Lys) rs587784323
NM_006031.6(PCNT):c.977C>T (p.Ala326Val)
NM_006031.6(PCNT):c.9820T>G (p.Ser3274Ala) rs144044246
NM_006031.6(PCNT):c.9840-4G>A rs199857861
NM_006031.6(PCNT):c.9852C>T (p.Ser3284=) rs142800774
NM_006031.6(PCNT):c.9866T>C (p.Leu3289Ser) rs199737174
NM_006031.6(PCNT):c.9968-3C>T rs182378192
NM_006049.4(SNAPC5):c.22-143C>T rs886051367
NM_006049.4(SNAPC5):c.22-47_22-46del rs745540522
NM_006049.4(SNAPC5):c.22-512C>A rs886051368
NM_006049.4(SNAPC5):c.22-513C>A rs886051369
NM_006049.4(SNAPC5):c.22-678A>G rs770655370
NM_006049.4(SNAPC5):c.22-788T>C rs138560168
NM_006049.4(SNAPC5):c.22-795A>G rs548081932
NM_006049.4(SNAPC5):c.22-806del rs886051370
NM_006049.4(SNAPC5):c.22-815dup rs886051370
NM_006270.5(RRAS):c.11G>C (p.Gly4Ala)
NM_006270.5(RRAS):c.147C>A (p.Phe49Leu)
NM_006270.5(RRAS):c.158A>T (p.Tyr53Phe) rs908791453
NM_006270.5(RRAS):c.167C>G (p.Ser56Cys) rs537601977
NM_006270.5(RRAS):c.175G>C (p.Asp59His) rs775437600
NM_006270.5(RRAS):c.241+5G>A
NM_006270.5(RRAS):c.307G>A (p.Gly103Ser)
NM_006270.5(RRAS):c.338G>A (p.Arg113Gln) rs766259420
NM_006270.5(RRAS):c.352G>A (p.Glu118Lys)
NM_006270.5(RRAS):c.371C>T (p.Thr124Met) rs369508242
NM_006270.5(RRAS):c.394C>T (p.Arg132Cys)
NM_006270.5(RRAS):c.400G>A (p.Asp134Asn) rs374650566
NM_006270.5(RRAS):c.409G>A (p.Val137Ile) rs757080959
NM_006270.5(RRAS):c.427A>T (p.Lys143Ter)
NM_006270.5(RRAS):c.454-6C>T rs1568436933
NM_006270.5(RRAS):c.457C>A (p.Pro153Thr)
NM_006270.5(RRAS):c.472_473insTT (p.Ser158fs) rs760978291
NM_006270.5(RRAS):c.49G>T (p.Gly17Trp) rs373359206
NM_006270.5(RRAS):c.515C>T (p.Ser172Leu) rs754342165
NM_006270.5(RRAS):c.572G>A (p.Arg191Gln)
NM_006270.5(RRAS):c.623A>G (p.Lys208Arg) rs1568436746
NM_006270.5(RRAS):c.627G>T (p.Lys209Asn)
NM_006270.5(RRAS):c.631G>A (p.Gly211Arg) rs369588682
NM_006270.5(RRAS):c.649C>G (p.Leu217Val) rs988964363
NM_006270.5(RRAS):c.64G>T (p.Gly22Trp) rs754976061
NM_006270.5(RRAS):c.74C>T (p.Pro25Leu)
NM_006270.5(RRAS):c.94C>T (p.Leu32=)
NM_006767.4(LZTR1):c.1234C>T (p.Arg412Cys) rs747430075
NM_006767.4(LZTR1):c.1382C>A (p.Ala461Asp) rs1569156890
NM_006767.4(LZTR1):c.1385T>C (p.Ile462Thr) rs147684991
NM_006767.4(LZTR1):c.1585T>C (p.Tyr529His)
NM_006767.4(LZTR1):c.1739T>C (p.Leu580Pro) rs1555928697
NM_006767.4(LZTR1):c.1943-256C>T rs761685529
NM_006767.4(LZTR1):c.1982G>A (p.Gly661Glu) rs750582696
NM_006767.4(LZTR1):c.2245T>C (p.Tyr749His)
NM_006767.4(LZTR1):c.2246A>G (p.Tyr749Cys) rs755260815
NM_006767.4(LZTR1):c.2462T>C (p.Ile821Thr)
NM_006767.4(LZTR1):c.271A>G (p.Met91Val) rs1135401945
NM_006767.4(LZTR1):c.360C>A (p.His120Gln)
NM_006912.6(RIT1):c.112A>G (p.Thr38Ala) rs1557962699
NM_006912.6(RIT1):c.13A>T (p.Thr5Ser)
NM_006912.6(RIT1):c.140C>T (p.Pro47Leu)
NM_006912.6(RIT1):c.153T>G (p.Asp51Glu)
NM_006912.6(RIT1):c.163+5G>T
NM_006912.6(RIT1):c.233G>A (p.Gly78Glu) rs1557960268
NM_006912.6(RIT1):c.244T>A (p.Phe82Ile) rs869025194
NM_006912.6(RIT1):c.334C>T (p.Arg112Cys) rs375724784
NM_006912.6(RIT1):c.461G>A (p.Arg154Gln)
NM_006912.6(RIT1):c.640_643AAGA[1] (p.Lys215fs) rs766063111
NM_006912.6(RIT1):c.649del (p.Ser217fs)
NM_006912.6(RIT1):c.67A>C (p.Lys23Gln) rs869312687
NM_006939.4(SOS2):c.1146A>G (p.Gln382=) rs1178247373
NM_006939.4(SOS2):c.1320T>A (p.Asn440Lys)
NM_006939.4(SOS2):c.1429C>T (p.Arg477Trp) rs1555370121
NM_006939.4(SOS2):c.1861T>G (p.Phe621Val) rs1555370029
NM_006939.4(SOS2):c.1868G>A (p.Arg623His) rs138459515
NM_006939.4(SOS2):c.1976T>C (p.Leu659Ser)
NM_006939.4(SOS2):c.2120A>G (p.Glu707Gly) rs369462490
NM_006939.4(SOS2):c.2128G>C (p.Glu710Gln) rs768829374
NM_006939.4(SOS2):c.2161+10A>G rs201629454
NM_006939.4(SOS2):c.2168C>T (p.Ala723Val) rs1566827698
NM_006939.4(SOS2):c.220G>A (p.Val74Ile)
NM_006939.4(SOS2):c.2221G>A (p.Ala741Thr)
NM_006939.4(SOS2):c.2246A>G (p.Asn749Ser) rs761689009
NM_006939.4(SOS2):c.2261G>A (p.Ser754Asn)
NM_006939.4(SOS2):c.2264C>T (p.Pro755Leu)
NM_006939.4(SOS2):c.2304G>T (p.Gln768His) rs778281839
NM_006939.4(SOS2):c.2366T>C (p.Leu789Ser)
NM_006939.4(SOS2):c.2384+5A>G rs376903120
NM_006939.4(SOS2):c.2396C>T (p.Pro799Leu) rs773672997
NM_006939.4(SOS2):c.2443A>G (p.Asn815Asp) rs886041958
NM_006939.4(SOS2):c.257C>T (p.Ala86Val)
NM_006939.4(SOS2):c.2600A>G (p.Asn867Ser) rs561495878
NM_006939.4(SOS2):c.2602G>A (p.Gly868Ser) rs751419448
NM_006939.4(SOS2):c.2606T>C (p.Val869Ala)
NM_006939.4(SOS2):c.2758A>G (p.Ile920Val)
NM_006939.4(SOS2):c.290G>A (p.Arg97Gln)
NM_006939.4(SOS2):c.2957G>A (p.Arg986Lys) rs772746106
NM_006939.4(SOS2):c.2969A>G (p.Glu990Gly)
NM_006939.4(SOS2):c.2983A>G (p.Met995Val)
NM_006939.4(SOS2):c.3076-3C>T
NM_006939.4(SOS2):c.3076C>T (p.Pro1026Ser) rs201874067
NM_006939.4(SOS2):c.3114A>G (p.Ile1038Met)
NM_006939.4(SOS2):c.3190T>C (p.Cys1064Arg)
NM_006939.4(SOS2):c.3235A>G (p.Thr1079Ala) rs61755576
NM_006939.4(SOS2):c.3266C>A (p.Pro1089Gln)
NM_006939.4(SOS2):c.3275C>T (p.Pro1092Leu)
NM_006939.4(SOS2):c.3277C>T (p.Pro1093Ser)
NM_006939.4(SOS2):c.3289T>C (p.Ser1097Pro)
NM_006939.4(SOS2):c.3338-4A>G rs777684425
NM_006939.4(SOS2):c.3383C>G (p.Ser1128Cys) rs1566815476
NM_006939.4(SOS2):c.3403A>G (p.Ser1135Gly) rs375478974
NM_006939.4(SOS2):c.3560C>T (p.Pro1187Leu)
NM_006939.4(SOS2):c.3584C>T (p.Ala1195Val) rs753151750
NM_006939.4(SOS2):c.3741C>G (p.Asp1247Glu)
NM_006939.4(SOS2):c.3761C>G (p.Thr1254Arg) rs772587016
NM_006939.4(SOS2):c.3781A>C (p.Thr1261Pro) rs1555367637
NM_006939.4(SOS2):c.3997T>C (p.Ter1333Arg)
NM_006939.4(SOS2):c.432G>A (p.Leu144=)
NM_006939.4(SOS2):c.496A>G (p.Met166Val) rs1555322175
NM_006939.4(SOS2):c.533A>C (p.Gln178Pro) rs1273376869
NM_006939.4(SOS2):c.542T>C (p.Ile181Thr)
NM_006939.4(SOS2):c.622G>T (p.Ala208Ser) rs61755579
NM_006939.4(SOS2):c.674G>A (p.Arg225Gln) rs780580623
NM_006939.4(SOS2):c.714T>G (p.Ser238=) rs750665891
NM_006939.4(SOS2):c.721G>A (p.Glu241Lys) rs148747022
NM_006939.4(SOS2):c.780G>T (p.Leu260Phe) rs1348457314
NM_006939.4(SOS2):c.811A>G (p.Ser271Gly)
NM_006939.4(SOS2):c.839G>C (p.Cys280Ser) rs530007285
NM_015474.3(SAMHD1):c.1037A>C (p.Glu346Ala) rs886056648
NM_015474.3(SAMHD1):c.1445G>A (p.Ser482Asn) rs373079404
NM_015474.3(SAMHD1):c.1735A>G (p.Thr579Ala) rs886056647
NM_015474.3(SAMHD1):c.602T>A (p.Ile201Asn) rs138603088
NM_015474.3(SAMHD1):c.67T>A (p.Ser23Thr) rs886056649
NM_015474.3(SAMHD1):c.840C>T (p.Val280=) rs17853622
NM_015474.4(SAMHD1):c.*104G>C
NM_015474.4(SAMHD1):c.*505T>A
NM_015474.4(SAMHD1):c.*648C>T
NM_015474.4(SAMHD1):c.*717G>C
NM_015474.4(SAMHD1):c.*871G>A
NM_015474.4(SAMHD1):c.*882T>C
NM_015474.4(SAMHD1):c.1015C>T (p.Arg339Cys)
NM_015474.4(SAMHD1):c.1271-5G>A
NM_015474.4(SAMHD1):c.1410+12G>T
NM_015474.4(SAMHD1):c.1444A>G (p.Ser482Gly)
NM_015474.4(SAMHD1):c.1725C>T (p.Asp575=)
NM_015474.4(SAMHD1):c.543A>T (p.Ala181=)
NM_015474.4(SAMHD1):c.933C>T (p.Asp311=)
NM_015474.4(SAMHD1):c.990T>C (p.Asp330=)
NM_030662.3(MAP2K2):c.26T>C (p.Leu9Pro) rs758307267
NM_030662.4(MAP2K2):c.1109A>G (p.Lys370Arg)
NM_030662.4(MAP2K2):c.1162C>T (p.Arg388Trp) rs144383241
NM_030662.4(MAP2K2):c.844C>T (p.Pro282Ser) rs142307980
NM_033360.4(KRAS):c.*1326C>T rs574966178
NM_033360.4(KRAS):c.*1622G>A rs886049194
NM_033360.4(KRAS):c.*16T>C rs779184057
NM_033360.4(KRAS):c.*1752A>G rs763217196
NM_033360.4(KRAS):c.*1777A>G rs886049193
NM_033360.4(KRAS):c.*180A>G rs886049198
NM_033360.4(KRAS):c.*1826C>G rs539213224
NM_033360.4(KRAS):c.*1831G>A rs531344668
NM_033360.4(KRAS):c.*1893A>G rs886049192
NM_033360.4(KRAS):c.*1967del rs886049191
NM_033360.4(KRAS):c.*2012T>C rs886049190
NM_033360.4(KRAS):c.*2360A>G rs886049189
NM_033360.4(KRAS):c.*2391_*2392insC rs886049188
NM_033360.4(KRAS):c.*2446G>A rs886049187
NM_033360.4(KRAS):c.*2577G>A rs886049186
NM_033360.4(KRAS):c.*2605G>A rs779071703
NM_033360.4(KRAS):c.*2815C>T rs886049185
NM_033360.4(KRAS):c.*297C>T rs886049197
NM_033360.4(KRAS):c.*3092_*3095del rs886049184
NM_033360.4(KRAS):c.*314C>T rs150334904
NM_033360.4(KRAS):c.*3269C>T rs886049183
NM_033360.4(KRAS):c.*3323T>C rs886049182
NM_033360.4(KRAS):c.*3575T>C rs749403585
NM_033360.4(KRAS):c.*3620C>T rs886049181
NM_033360.4(KRAS):c.*3672C>G rs188922523
NM_033360.4(KRAS):c.*3766A>G rs529959450
NM_033360.4(KRAS):c.*3803_*3804dup rs142323886
NM_033360.4(KRAS):c.*3875_*3878del rs886049180
NM_033360.4(KRAS):c.*4036A>G rs886049179
NM_033360.4(KRAS):c.*4187del rs34719539
NM_033360.4(KRAS):c.*4195G>A rs886049177
NM_033360.4(KRAS):c.*4549G>C rs545014897
NM_033360.4(KRAS):c.*4604G>A rs577486152
NM_033360.4(KRAS):c.*4619T>C rs768891600
NM_033360.4(KRAS):c.*4643G>A rs886049176
NM_033360.4(KRAS):c.*491C>G rs886049196
NM_033360.4(KRAS):c.*659del rs756307694
NM_033360.4(KRAS):c.*671C>T rs566222739
NM_033360.4(KRAS):c.*886A>G rs886049195
NM_033360.4(KRAS):c.*986T>C rs559143985
NM_033360.4(KRAS):c.-128C>G rs886049199
NM_033360.4(KRAS):c.-160A>G rs727503111
NM_033360.4(KRAS):c.-176_-174CGG[4] rs886049200
NM_033360.4(KRAS):c.-180G>A rs886049201
NM_033360.4(KRAS):c.111+8T>G
NM_033360.4(KRAS):c.112-5C>T rs376520586
NM_033360.4(KRAS):c.198A>G (p.Ala66=) rs200229810
NM_033360.4(KRAS):c.264A>G (p.Lys88=) rs370920665
NM_033360.4(KRAS):c.389C>T (p.Ala130Val) rs730880473
NM_033629.6(TREX1):c.218C>T (p.Pro73Leu) rs755919767
NM_033629.6(TREX1):c.923C>G (p.Ser308Cys) rs769885715
NM_080601.3(PTPN11):c.762_764ACA[2] (p.Gln257del)
NM_080628.3(TLDC2):c.18-292C>T rs886056646
NM_080628.3(TLDC2):c.18-433T>C rs757372495
NM_080628.3(TLDC2):c.18-466G>A rs886056645
NM_080628.3(TLDC2):c.18-641T>G rs886056644
NM_144670.6(A2ML1):c.1417G>T (p.Asp473Tyr) rs201950472
NM_144670.6(A2ML1):c.3397A>C (p.Asn1133His) rs1466413438

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