NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu)
|
rs17883862
|
0.00201
|
NM_003977.4(AIP):c.911G>A (p.Arg304Gln)
|
rs104894190
|
0.00115
|
NM_004752.4(GCM2):c.1181A>C (p.Tyr394Ser)
|
rs142287570
|
0.00050
|
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe)
|
rs77375493
|
0.00036
|
NM_001982.4(ERBB3):c.4009G>A (p.Ala1337Thr)
|
rs755855285
|
0.00014
|
NM_001135608.3(ARHGAP26):c.1250A>G (p.Asn417Ser)
|
rs121918546
|
0.00010
|
NM_058172.6(ANTXR2):c.1074del (p.Ala359fs)
|
rs312262693
|
0.00004
|
NM_003977.4(AIP):c.40C>T (p.Gln14Ter)
|
rs104894194
|
0.00002
|
NM_000516.7(GNAS):c.601C>T (p.Arg201Cys)
|
rs11554273
|
0.00001
|
NM_000516.7(GNAS):c.602G>A (p.Arg201His)
|
rs121913495
|
0.00001
|
NM_002524.5(NRAS):c.35G>A (p.Gly12Asp)
|
rs121913237
|
0.00001
|
NM_003977.4(AIP):c.910C>T (p.Arg304Ter)
|
rs104894195
|
0.00001
|
NM_004985.5(KRAS):c.34G>A (p.Gly12Ser)
|
rs121913530
|
0.00001
|
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp)
|
rs121913529
|
0.00001
|
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp)
|
rs112445441
|
0.00001
|
NM_005373.3(MPL):c.1544G>T (p.Trp515Leu)
|
rs121913615
|
0.00001
|
NM_022124.6(CDH23):c.6344G>A (p.Arg2115His)
|
rs1270566026
|
0.00001
|
NM_022124.6(CDH23):c.9886G>A (p.Asp3296Asn)
|
rs372388344
|
0.00001
|
NM_207122.2(EXT2):c.863A>G (p.Asn288Ser)
|
rs745738318
|
0.00001
|
ARHGAP26, 52-BP INS
|
|
|
ARHGAP26, 74-BP INS
|
|
|
CDC73, 41-BP DUP/INS
|
|
|
FLT3, INTERNAL TANDEM DUP
|
|
|
NC_000009.12:g.21931006A>G
|
rs2131048008
|
|
NC_000009.12:g.21931079A>G
|
rs2131048129
|
|
NF1, IVS34, G-A, +18
|
|
|
NM_000127.3(EXT1):c.1016G>A (p.Gly339Asp)
|
rs119103288
|
|
NM_000127.3(EXT1):c.1018C>T (p.Arg340Cys)
|
rs119103290
|
|
NM_000127.3(EXT1):c.1019G>A (p.Arg340His)
|
rs119103287
|
|
NM_000127.3(EXT1):c.1019G>T (p.Arg340Leu)
|
rs119103287
|
|
NM_000127.3(EXT1):c.1469del (p.Leu490fs)
|
rs886039356
|
|
NM_000127.3(EXT1):c.1664dup (p.Asn555fs)
|
rs1586993159
|
|
NM_000127.3(EXT1):c.357C>A (p.Tyr119Ter)
|
rs119103289
|
|
NM_000127.3(EXT1):c.416_419dup (p.Ser141fs)
|
rs2130043564
|
|
NM_000127.3(EXT1):c.713del (p.Ser238fs)
|
rs2130042099
|
|
NM_000127.3(EXT1):c.962+1G>C
|
rs886039353
|
|
NM_000127.3(EXT1):c.962+3_962+6del
|
rs1586279285
|
|
NM_000222.3(KIT):c.2446G>T (p.Asp816Tyr)
|
rs121913506
|
|
NM_000388.4(CASR):c.1745G>A (p.Cys582Tyr)
|
rs104893690
|
|
NM_000388.4(CASR):c.1942C>T (p.Arg648Ter)
|
rs104893705
|
|
NM_000388.4(CASR):c.2009G>A (p.Gly670Glu)
|
rs104893700
|
|
NM_000388.4(CASR):c.2241_2242delinsT (p.Pro748fs)
|
rs869320729
|
|
NM_000388.4(CASR):c.280G>T (p.Gly94Ter)
|
rs104893709
|
|
NM_000388.4(CASR):c.553C>T (p.Arg185Ter)
|
rs104893707
|
|
NM_000388.4(CASR):c.554G>A (p.Arg185Gln)
|
rs104893689
|
|
NM_000388.4(CASR):c.680G>T (p.Arg227Leu)
|
rs28936684
|
|
NM_000388.4(CASR):c.889G>A (p.Glu297Lys)
|
rs121909259
|
|
NM_000388.4:c.2628_2629insAlu
|
|
|
NM_000516.7(GNAS):c.680A>G (p.Gln227Arg)
|
rs121913494
|
|
NM_000516.7(GNAS):c.681G>C (p.Gln227His)
|
rs137854533
|
|
NM_000546.6(TP53):c.475_481dup (p.Ala161fs)
|
rs863223301
|
|
NM_000546.6(TP53):c.722C>T (p.Ser241Phe)
|
rs28934573
|
|
NM_001042492.3(NF1):c.1642-8A>G
|
rs267606602
|
|
NM_001042492.3(NF1):c.4677G>A (p.Trp1559Ter)
|
rs137854555
|
|
NM_001370259.2(MEN1):c.1350+1G>A
|
rs863223311
|
|
NM_001987.5(ETV6):c.1307_1308insGGG (p.His436delinsGlnGly)
|
rs587776710
|
|
NM_001987.5(ETV6):c.226G>T (p.Glu76Ter)
|
rs121434637
|
|
NM_002049.4(GATA1):c.154_173dup (p.Ala59fs)
|
rs398124628
|
|
NM_002070.4(GNAI2):c.535C>G (p.Arg179Gly)
|
rs137853226
|
|
NM_002520.7(NPM1):c.860_863dup (p.Trp288fs)
|
rs587776806
|
|
NM_002520.7(NPM1):c.863_864insCATG (p.Trp288fs)
|
rs1554138188
|
|
NM_002520.7(NPM1):c.863_864insCCTG (p.Trp288fs)
|
rs1554138189
|
|
NM_002520.7(NPM1):c.863_864insCGTG (p.Trp288fs)
|
rs1554138188
|
|
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp)
|
rs121434596
|
|
NM_002834.5(PTPN11):c.226G>A (p.Glu76Lys)
|
rs121918464
|
|
NM_002834.5(PTPN11):c.227A>C (p.Glu76Ala)
|
rs121918465
|
|
NM_002834.5(PTPN11):c.227A>G (p.Glu76Gly)
|
rs121918465
|
|
NM_002834.5(PTPN11):c.227A>T (p.Glu76Val)
|
rs121918465
|
|
NM_003977.4(AIP):c.469-1G>A
|
rs267606555
|
|
NM_003977.4(AIP):c.543del (p.Ile182fs)
|
rs267606559
|
|
NM_003977.4(AIP):c.64C>T (p.Arg22Ter)
|
rs121908357
|
|
NM_003977.4(AIP):c.66_71del (p.Gly23_Glu24del)
|
rs267606567
|
|
NM_003977.4(AIP):c.804C>A (p.Tyr268Ter)
|
rs121908356
|
|
NM_003977.4(AIP):c.824dup (p.His275fs)
|
rs267606580
|
|
NM_004119.3(FLT3):c.2503G>A (p.Asp835Asn)
|
rs121913488
|
|
NM_004119.3(FLT3):c.2503G>C (p.Asp835His)
|
rs121913488
|
|
NM_004119.3(FLT3):c.2503G>T (p.Asp835Tyr)
|
rs121913488
|
|
NM_004119.3(FLT3):c.2503_2505del (p.Asp835del)
|
rs121913486
|
|
NM_004119.3(FLT3):c.2504A>T (p.Asp835Val)
|
rs121909646
|
|
NM_004119.3(FLT3):c.2505T>A (p.Asp835Glu)
|
rs121913487
|
|
NM_004119.3(FLT3):c.2520_2521insGGATCC (p.Ser840_Asn841insGlySer)
|
rs398122514
|
|
NM_004343.3(CALR):c.1092_1143del52 (p.Leu367Thrfs)
|
rs1555760738
|
|
NM_004364.5(CEBPA):c.115_121del (p.Pro39fs)
|
rs587776848
|
|
NM_004364.5(CEBPA):c.148G>T (p.Glu50Ter)
|
rs121912791
|
|
NM_004364.5(CEBPA):c.211_214dup (p.Ala72fs)
|
rs587776849
|
|
NM_004364.5(CEBPA):c.251A>T (p.His84Leu)
|
rs28931590
|
|
NM_004364.5(CEBPA):c.68del (p.Pro23fs)
|
rs137852728
|
|
NM_004364.5(CEBPA):c.925_951dup (p.Glu309_Leu317dup)
|
rs1555741967
|
|
NM_004364.5(CEBPA):c.935_991dup (p.Gln312_Gln330dup)
|
rs1555741948
|
|
NM_004752.3(GCM2):c.[1136T>A;751C>G]
|
|
|
NM_004972.4(JAK2):c.1821G>C (p.Lys607Asn)
|
rs121912472
|
|
NM_005154.5(USP8):c.2152T>C (p.Ser718Pro)
|
rs672601307
|
|
NM_005154.5(USP8):c.2152TCC[1] (p.Ser719del)
|
rs672601306
|
|
NM_005154.5(USP8):c.2159C>G (p.Pro720Arg)
|
rs672601311
|
|
NM_005157.6(ABL1):c.1052T>C (p.Met351Thr)
|
rs121913457
|
|
NM_005157.6(ABL1):c.931T>C (p.Phe311Leu)
|
rs137853304
|
|
NM_005188.4(CBL):c.1112A>G (p.Tyr371Cys)
|
rs387906666
|
|
NM_005373.3(MPL):c.1543_1544delinsAA (p.Trp515Lys)
|
rs121913616
|
|
NM_005475.3(SH2B3):c.603_607del (p.Arg202fs)
|
rs587776885
|
|
NM_007194.4(CHEK2):c.49G>T (p.Ala17Ser)
|
rs137853008
|
|
NM_015922.3(NSDHL):c.262C>T (p.Arg88Ter)
|
rs104894903
|
|
NM_015922.3(NSDHL):c.314C>T (p.Ala105Val)
|
rs104894909
|
|
NM_015922.3(NSDHL):c.451G>T (p.Glu151Ter)
|
rs104894905
|
|
NM_015922.3(NSDHL):c.544G>C (p.Ala182Pro)
|
rs104894904
|
|
NM_015922.3(NSDHL):c.613G>A (p.Gly205Ser)
|
rs104894901
|
|
NM_015922.3(NSDHL):c.628C>T (p.Gln210Ter)
|
rs104894902
|
|
NM_022124.6(CDH23):c.4136G>T (p.Arg1379Leu)
|
rs767004225
|
|
NM_022124.6(CDH23):c.9412C>T (p.Arg3138Trp)
|
rs1052484950
|
|
NM_022552.5(DNMT3A):c.2644C>T (p.Arg882Cys)
|
rs377577594
|
|
NM_022552.5(DNMT3A):c.2645G>A (p.Arg882His)
|
rs147001633
|
|
NM_024529.5(CDC73):c.131+1G>A
|
rs587776558
|
|
NM_024529.5(CDC73):c.191T>C (p.Leu64Pro)
|
rs121434264
|
|
NM_024529.5(CDC73):c.238-1G>A
|
rs587776559
|
|
NM_024529.5(CDC73):c.25C>T (p.Arg9Ter)
|
rs121434262
|
|
NM_024529.5(CDC73):c.3G>A (p.Met1Ile)
|
rs28942098
|
|
NM_024529.5(CDC73):c.679_680insAG (p.Arg227fs)
|
rs80356649
|
|
NM_024529.5(CDC73):c.766_767del (p.Val256fs)
|
rs80356650
|
|
NM_033360.4(KRAS):c.27_29dup (p.Gly10dup)
|
rs606231202
|
|
NM_054021.2(GPR101):c.1098C>A (p.Asp366Glu)
|
rs1556379508
|
|
NM_054021.2(GPR101):c.924G>C (p.Glu308Asp)
|
rs73637412
|
|
NM_058172.6(ANTXR2):c.1073dup (p.Ala359fs)
|
rs312262690
|
|
NM_058172.6(ANTXR2):c.1142A>G (p.Tyr381Cys)
|
rs137852901
|
|
NM_058172.6(ANTXR2):c.1179G>A (p.Glu393=)
|
rs546102223
|
|
NM_058172.6(ANTXR2):c.314G>A (p.Gly105Asp)
|
rs137852902
|
|
NM_058172.6(ANTXR2):c.566T>C (p.Ile189Thr)
|
rs137852905
|
|
NM_058172.6(ANTXR2):c.658G>T (p.Glu220Ter)
|
rs137852904
|
|
NM_058172.6(ANTXR2):c.986T>G (p.Leu329Arg)
|
rs137852903
|
|
NM_198291.3(SRC):c.1579G>A (p.Glu527Lys)
|
rs879255268
|
|
NM_207122.2(EXT2):c.1052C>T (p.Pro351Leu)
|
rs1954415964
|
|
NM_207122.2(EXT2):c.1305+1G>A
|
rs864309637
|
|
NM_207122.2(EXT2):c.454_457del (p.Val154fs)
|
rs864309636
|
|
NM_207122.2(EXT2):c.514C>T (p.Gln172Ter)
|
rs121918279
|
|
NM_207122.2(EXT2):c.666C>G (p.Tyr222Ter)
|
rs121918281
|
|
NM_207122.2(EXT2):c.679G>A (p.Asp227Asn)
|
rs121918280
|
|
NM_207122.2(EXT2):c.744-2A>C
|
rs864309638
|
|
NM_207122.2(EXT2):c.772C>T (p.Gln258Ter)
|
rs267606786
|
|