NM_002253.4(KDR):c.3848+15T>C
|
rs2412617
|
0.99680
|
NM_133171.5(ELMO2):c.1980T>C (p.Asp660=)
|
rs2257495
|
0.98384
|
NM_005401.5(PTPN14):c.-26G>A
|
rs10864100
|
0.83031
|
NM_005401.5(PTPN14):c.2688+26C>T
|
rs3013451
|
0.82386
|
NM_005401.5(PTPN14):c.978A>G (p.Arg326=)
|
rs7550799
|
0.82382
|
NM_005401.5(PTPN14):c.3252A>G (p.Glu1084=)
|
rs1135352
|
0.81332
|
NC_000007.14:g.22727026C>G
|
rs1800795
|
0.70949
|
NM_000546.6(TP53):c.215C>G (p.Pro72Arg)
|
rs1042522
|
0.62654
|
NM_032208.3(ANTXR1):c.1185+16C>A
|
rs6749826
|
0.45542
|
NM_005401.5(PTPN14):c.758+5T>G
|
rs11580603
|
0.37880
|
NM_005401.5(PTPN14):c.*26G>A
|
rs2291831
|
0.15689
|
NM_002253.4(KDR):c.1444T>C (p.Cys482Arg)
|
rs34231037
|
0.02299
|
NM_002734.5(PRKAR1A):c.87G>A (p.Ala29=)
|
rs3730349
|
0.01815
|
NM_133171.5(ELMO2):c.963G>A (p.Arg321=)
|
rs41310805
|
0.01127
|
NM_000791.4(DHFR):c.-416C>G
|
rs2001675
|
0.00949
|
NM_000546.6(TP53):c.97-6C>T
|
rs35117667
|
0.00847
|
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)
|
rs17879961
|
0.00434
|
NM_002734.5(PRKAR1A):c.204G>A (p.Leu68=)
|
rs74863634
|
0.00405
|
NM_182925.5(FLT4):c.2860C>T (p.Pro954Ser)
|
rs34255532
|
0.00275
|
NM_002734.5(PRKAR1A):c.1029C>T (p.Gly343=)
|
rs1803241
|
0.00265
|
NM_133171.5(ELMO2):c.1134G>A (p.Leu378=)
|
rs8124302
|
0.00264
|
NM_000551.4(VHL):c.74C>T (p.Pro25Leu)
|
rs35460768
|
0.00261
|
NM_032208.3(ANTXR1):c.1553C>T (p.Ala518Val)
|
rs139807657
|
0.00253
|
NM_002253.4(KDR):c.2312C>T (p.Thr771Met)
|
rs149745504
|
0.00198
|
NM_000546.6(TP53):c.139C>T (p.Pro47Ser)
|
rs1800371
|
0.00123
|
NM_033360.4(KRAS):c.5-18A>G
|
rs200189105
|
0.00100
|
NM_001146079.2(CLDN14):c.185A>G (p.Tyr62Cys)
|
rs148223897
|
0.00048
|
NM_000546.5(TP53):c.319T>C (p.Tyr107His)
|
rs368771578
|
0.00028
|
NM_000077.5(CDKN2A):c.318G>A (p.Val106=)
|
rs199888003
|
0.00026
|
NM_004985.5(KRAS):c.24A>G (p.Val8=)
|
rs147406419
|
0.00025
|
NM_002734.5(PRKAR1A):c.489T>C (p.Thr163=)
|
rs143672551
|
0.00021
|
NM_000546.6(TP53):c.672+18G>C
|
rs199578278
|
0.00014
|
NM_002734.5(PRKAR1A):c.156A>G (p.Glu52=)
|
rs141432364
|
0.00012
|
NM_017563.5(IL17RD):c.572C>T (p.Pro191Leu)
|
rs200088377
|
0.00012
|
NM_002734.5(PRKAR1A):c.381T>C (p.Ala127=)
|
rs372669687
|
0.00011
|
NM_033360.4(KRAS):c.90C>T (p.Asp30=)
|
rs113623140
|
0.00011
|
NM_000546.6(TP53):c.847C>T (p.Arg283Cys)
|
rs149633775
|
0.00009
|
NM_002734.5(PRKAR1A):c.502+12_502+13del
|
rs764075585
|
0.00009
|
NM_002734.5(PRKAR1A):c.1024C>T (p.Arg342Cys)
|
rs146383819
|
0.00006
|
NM_017563.5(IL17RD):c.676G>A (p.Gly226Ser)
|
rs577890523
|
0.00006
|
NM_033360.4(KRAS):c.4+5G>A
|
rs201789109
|
0.00006
|
NM_000546.6(TP53):c.460G>A (p.Gly154Ser)
|
rs137852789
|
0.00004
|
NM_001146079.2(CLDN14):c.427G>A (p.Val143Met)
|
rs776564488
|
0.00004
|
NM_001291303.3(FAT4):c.9273C>A (p.Phe3091Leu)
|
rs748266278
|
0.00004
|
NM_002734.5(PRKAR1A):c.549+20A>G
|
rs981055703
|
0.00004
|
NM_004985.5(KRAS):c.451-5652C>T
|
rs727505314
|
0.00004
|
NM_000546.6(TP53):c.467G>A (p.Arg156His)
|
rs371524413
|
0.00003
|
NM_000551.4(VHL):c.628C>T (p.Arg210Trp)
|
rs774380450
|
0.00003
|
NM_001374353.1(GLI2):c.2593A>T (p.Thr865Ser)
|
rs1332140763
|
0.00003
|
NM_002253.4(KDR):c.3439C>T (p.Pro1147Ser)
|
rs121917766
|
0.00003
|
NM_000546.6(TP53):c.-12C>T
|
rs375229869
|
0.00002
|
NM_000546.6(TP53):c.466C>T (p.Arg156Cys)
|
rs563378859
|
0.00002
|
NM_000546.6(TP53):c.743G>A (p.Arg248Gln)
|
rs11540652
|
0.00002
|
NM_001395002.1(MAP4K4):c.1694G>A (p.Arg565Gln)
|
rs781410462
|
0.00002
|
NM_033360.4(KRAS):c.389C>T (p.Ala130Val)
|
rs730880473
|
0.00002
|
NM_133171.5(ELMO2):c.1416+9C>G
|
rs770529533
|
0.00002
|
NM_000492.4(CFTR):c.2490+2T>C
|
rs1057516216
|
0.00001
|
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_000546.6(TP53):c.1000G>C (p.Gly334Arg)
|
rs730882028
|
0.00001
|
NM_000546.6(TP53):c.1001G>A (p.Gly334Glu)
|
rs1286563734
|
0.00001
|
NM_000546.6(TP53):c.1010G>A (p.Arg337His)
|
rs121912664
|
0.00001
|
NM_000546.6(TP53):c.1048C>G (p.Leu350Val)
|
rs768046010
|
0.00001
|
NM_000546.6(TP53):c.374C>T (p.Thr125Met)
|
rs786201057
|
0.00001
|
NM_000546.6(TP53):c.375G>A (p.Thr125=)
|
rs55863639
|
0.00001
|
NM_000546.6(TP53):c.38C>T (p.Pro13Leu)
|
rs878854070
|
0.00001
|
NM_000546.6(TP53):c.393C>A (p.Asn131Lys)
|
rs769270327
|
0.00001
|
NM_000546.6(TP53):c.395A>G (p.Lys132Arg)
|
rs1057519996
|
0.00001
|
NM_000546.6(TP53):c.455C>T (p.Pro152Leu)
|
rs587782705
|
0.00001
|
NM_000546.6(TP53):c.461G>A (p.Gly154Asp)
|
rs762846821
|
0.00001
|
NM_000546.6(TP53):c.473G>A (p.Arg158His)
|
rs587782144
|
0.00001
|
NM_000546.6(TP53):c.524G>A (p.Arg175His)
|
rs28934578
|
0.00001
|
NM_000546.6(TP53):c.535C>T (p.His179Tyr)
|
rs587780070
|
0.00001
|
NM_000546.6(TP53):c.541C>T (p.Arg181Cys)
|
rs587782596
|
0.00001
|
NM_000546.6(TP53):c.542G>A (p.Arg181His)
|
rs397514495
|
0.00001
|
NM_000546.6(TP53):c.560-1G>A
|
rs1202793339
|
0.00001
|
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys)
|
rs121912666
|
0.00001
|
NM_000546.6(TP53):c.711G>A (p.Met237Ile)
|
rs587782664
|
0.00001
|
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr)
|
rs730882005
|
0.00001
|
NM_000546.6(TP53):c.733G>A (p.Gly245Ser)
|
rs28934575
|
0.00001
|
NM_000546.6(TP53):c.760A>G (p.Ile254Val)
|
rs746601313
|
0.00001
|
NM_000546.6(TP53):c.817C>T (p.Arg273Cys)
|
rs121913343
|
0.00001
|
NM_000546.6(TP53):c.824G>A (p.Cys275Tyr)
|
rs863224451
|
0.00001
|
NM_000546.6(TP53):c.848G>A (p.Arg283His)
|
rs371409680
|
0.00001
|
NM_002473.6(MYH9):c.5308C>T (p.Arg1770Cys)
|
rs1430793034
|
0.00001
|
NM_002734.5(PRKAR1A):c.1025G>A (p.Arg342His)
|
rs760033566
|
0.00001
|
NM_002734.5(PRKAR1A):c.549+10A>C
|
rs751413552
|
0.00001
|
NM_004444.5(EPHB4):c.1405G>A (p.Val469Ile)
|
rs775083333
|
0.00001
|
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp)
|
rs121913529
|
0.00001
|
NM_004985.5(KRAS):c.57G>C (p.Leu19Phe)
|
rs121913538
|
0.00001
|
NM_005896.4(IDH1):c.394C>T (p.Arg132Cys)
|
rs121913499
|
0.00001
|
NM_005896.4(IDH1):c.395G>A (p.Arg132His)
|
rs121913500
|
0.00001
|
NM_007217.4(PDCD10):c.474+5G>A
|
rs1553759139
|
0.00001
|
NM_012433.4(SF3B1):c.1873C>G (p.Arg625Gly)
|
rs775623976
|
0.00001
|
NM_017617.5(NOTCH1):c.5674G>A (p.Gly1892Arg)
|
rs761427888
|
0.00001
|
NM_024870.4(PREX2):c.3355G>A (p.Ala1119Thr)
|
rs778089198
|
0.00001
|
NM_032208.3(ANTXR1):c.976G>A (p.Ala326Thr)
|
rs119475040
|
0.00001
|
NM_033360.4(KRAS):c.112-5C>T
|
rs376520586
|
0.00001
|
NM_133171.5(ELMO2):c.1065+1G>A
|
rs768410753
|
0.00001
|
NM_133171.5(ELMO2):c.1447C>T (p.Arg483Ter)
|
rs1372506599
|
0.00001
|
46;XX;ins(3;1)(q23;p22p32)dn
|
|
|
46;XX;t(4;14)(p15.2;q13)dn
|
|
|
46;XX;t(6;17)(q13;q21)dn
|
|
|
46;XY;inv(6)(p22q13)dn
|
|
|
46;XY;t(1;4)(q32;q11)
|
|
|
46;XY;t(7;13)(p15.3;q14.1)dn
|
|
|
GRCh37/hg19 14q24.1(chr14:68126321-68269053)x3
|
|
|
GRCh37/hg19 15q11.2(chr15:22770421-23082328)x1
|
|
|
GRCh37/hg19 8q23.3(chr8:114378494-114450308)
|
|
|
NM_000051.4(ATM):c.1837_1839del (p.Val613del)
|
rs2135353566
|
|
NM_000077.5(CDKN2A):c.50C>G (p.Ala17Gly)
|
|
|
NM_000141.5(FGFR2):c.1144T>C (p.Cys382Arg)
|
rs121913474
|
|
NM_000179.3(MSH6):c.3644T>A (p.Leu1215Ter)
|
rs2104526529
|
|
NM_000215.4(JAK3):c.1765G>A (p.Gly589Ser)
|
rs886039394
|
|
NM_000249.4(MLH1):c.884G>T (p.Ser295Ile)
|
rs63750144
|
|
NM_000268.4(NF2):c.575A>G (p.Tyr192Cys)
|
rs1555993319
|
|
NM_000271.5(NPC1):c.1315A>G (p.Ile439Val)
|
rs933640981
|
|
NM_000314.8(PTEN):c.675T>G (p.Tyr225Ter)
|
rs1057520900
|
|
NM_000362.5(TIMP3):c.311T>C (p.Leu104Pro)
|
rs1555985260
|
|
NM_000368.5(TSC1):c.2356C>T (p.Arg786Ter)
|
rs118203682
|
|
NM_000420.3(KEL):c.604G>A (p.Gly202Ser)
|
rs2116680039
|
|
NM_000420.3(KEL):c.961C>T (p.Gln321Ter)
|
rs980885552
|
|
NM_000459.5(TEK):c.3314_3315delinsTGACCT (p.Thr1105fs)
|
rs2131267739
|
|
NM_000489.6(ATRX):c.3904del (p.Arg1302fs)
|
rs2148497062
|
|
NM_000489.6(ATRX):c.6235C>T (p.Arg2079Ter)
|
rs2148020083
|
|
NM_000516.7(GNAS):c.602G>T (p.Arg201Leu)
|
rs121913495
|
|
NM_000546.6(TP53):c.1009C>T (p.Arg337Cys)
|
rs587782529
|
|
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter)
|
rs730882029
|
|
NM_000546.6(TP53):c.1029G>C (p.Glu343Asp)
|
|
|
NM_000546.6(TP53):c.1031T>C (p.Leu344Pro)
|
rs121912662
|
|
NM_000546.6(TP53):c.1081G>C (p.Gly361Arg)
|
rs1555524361
|
|
NM_000546.6(TP53):c.1120G>A (p.Gly374Ser)
|
rs587781858
|
|
NM_000546.6(TP53):c.1140del (p.His380fs)
|
rs1555524108
|
|
NM_000546.6(TP53):c.1145A>C (p.Lys382Thr)
|
rs2072835191
|
|
NM_000546.6(TP53):c.158G>A (p.Trp53Ter)
|
rs876658483
|
|
NM_000546.6(TP53):c.159G>A (p.Trp53Ter)
|
rs1064794618
|
|
NM_000546.6(TP53):c.245_260del (p.Pro82fs)
|
|
|
NM_000546.6(TP53):c.272G>A (p.Trp91Ter)
|
rs2073465664
|
|
NM_000546.6(TP53):c.322G>A (p.Gly108Ser)
|
rs587782461
|
|
NM_000546.6(TP53):c.322G>C (p.Gly108Arg)
|
rs587782461
|
|
NM_000546.6(TP53):c.329G>C (p.Arg110Pro)
|
rs11540654
|
|
NM_000546.6(TP53):c.373A>C (p.Thr125Pro)
|
rs1057520003
|
|
NM_000546.6(TP53):c.374C>A (p.Thr125Lys)
|
rs786201057
|
|
NM_000546.6(TP53):c.374C>G (p.Thr125Arg)
|
rs786201057
|
|
NM_000546.6(TP53):c.375G>C (p.Thr125=)
|
rs55863639
|
|
NM_000546.6(TP53):c.378C>G (p.Tyr126Ter)
|
rs1567554500
|
|
NM_000546.6(TP53):c.380C>T (p.Ser127Phe)
|
rs730881999
|
|
NM_000546.6(TP53):c.388C>G (p.Leu130Val)
|
rs863224683
|
|
NM_000546.6(TP53):c.389T>C (p.Leu130Pro)
|
rs1131691013
|
|
NM_000546.6(TP53):c.394A>C (p.Lys132Gln)
|
rs747342068
|
|
NM_000546.6(TP53):c.394A>G (p.Lys132Glu)
|
rs747342068
|
|
NM_000546.6(TP53):c.395A>C (p.Lys132Thr)
|
rs1057519996
|
|
NM_000546.6(TP53):c.395A>T (p.Lys132Met)
|
rs1057519996
|
|
NM_000546.6(TP53):c.396G>C (p.Lys132Asn)
|
rs866775781
|
|
NM_000546.6(TP53):c.403T>A (p.Cys135Ser)
|
rs1057519975
|
|
NM_000546.6(TP53):c.403T>C (p.Cys135Arg)
|
rs1057519975
|
|
NM_000546.6(TP53):c.403T>G (p.Cys135Gly)
|
rs1057519975
|
|
NM_000546.6(TP53):c.404G>A (p.Cys135Tyr)
|
rs587781991
|
|
NM_000546.6(TP53):c.404G>T (p.Cys135Phe)
|
rs587781991
|
|
NM_000546.6(TP53):c.405C>G (p.Cys135Trp)
|
rs1057519976
|
|
NM_000546.6(TP53):c.406C>T (p.Gln136Ter)
|
|
|
NM_000546.6(TP53):c.413C>T (p.Ala138Val)
|
rs750600586
|
|
NM_000546.6(TP53):c.427G>A (p.Val143Met)
|
rs587782620
|
|
NM_000546.6(TP53):c.440T>A (p.Val147Asp)
|
rs1453167097
|
|
NM_000546.6(TP53):c.445T>C (p.Ser149Pro)
|
|
|
NM_000546.6(TP53):c.448_460del (p.Thr150fs)
|
rs1064792930
|
|
NM_000546.6(TP53):c.451C>A (p.Pro151Thr)
|
rs28934874
|
|
NM_000546.6(TP53):c.451C>G (p.Pro151Ala)
|
rs28934874
|
|
NM_000546.6(TP53):c.451C>T (p.Pro151Ser)
|
rs28934874
|
|
NM_000546.6(TP53):c.452C>A (p.Pro151His)
|
rs1057520000
|
|
NM_000546.6(TP53):c.452C>G (p.Pro151Arg)
|
rs1057520000
|
|
NM_000546.6(TP53):c.470T>C (p.Val157Ala)
|
rs1131691023
|
|
NM_000546.6(TP53):c.475_481dup (p.Ala161fs)
|
rs863223301
|
|
NM_000546.6(TP53):c.476C>T (p.Ala159Val)
|
rs1555526131
|
|
NM_000546.6(TP53):c.47A>G (p.Gln16Arg)
|
rs2073520057
|
|
NM_000546.6(TP53):c.481G>A (p.Ala161Thr)
|
rs193920817
|
|
NM_000546.6(TP53):c.487T>C (p.Tyr163His)
|
rs786203436
|
|
NM_000546.6(TP53):c.48G>C (p.Gln16His)
|
rs1597376489
|
|
NM_000546.6(TP53):c.499C>T (p.Gln167Ter)
|
rs1555526097
|
|
NM_000546.6(TP53):c.517G>A (p.Val173Met)
|
rs876660754
|
|
NM_000546.6(TP53):c.517G>T (p.Val173Leu)
|
rs876660754
|
|
NM_000546.6(TP53):c.518T>A (p.Val173Glu)
|
rs1057519747
|
|
NM_000546.6(TP53):c.518T>C (p.Val173Ala)
|
rs1057519747
|
|
NM_000546.6(TP53):c.518T>G (p.Val173Gly)
|
rs1057519747
|
|
NM_000546.6(TP53):c.527G>A (p.Cys176Tyr)
|
rs786202962
|
|
NM_000546.6(TP53):c.532del (p.His178fs)
|
rs786202525
|
|
NM_000546.6(TP53):c.533A>C (p.His178Pro)
|
rs1555526004
|
|
NM_000546.6(TP53):c.535C>G (p.His179Asp)
|
rs587780070
|
|
NM_000546.6(TP53):c.536A>T (p.His179Leu)
|
rs1057519991
|
|
NM_000546.6(TP53):c.559+1G>A
|
rs1131691042
|
|
NM_000546.6(TP53):c.559+5G>C
|
rs1555525956
|
|
NM_000546.6(TP53):c.574C>G (p.Gln192Glu)
|
|
|
NM_000546.6(TP53):c.575A>G (p.Gln192Arg)
|
rs730882002
|
|
NM_000546.6(TP53):c.578A>G (p.His193Arg)
|
rs786201838
|
|
NM_000546.6(TP53):c.584T>C (p.Ile195Thr)
|
rs760043106
|
|
NM_000546.6(TP53):c.586C>T (p.Arg196Ter)
|
rs397516435
|
|
NM_000546.6(TP53):c.617T>G (p.Leu206Trp)
|
|
|
NM_000546.6(TP53):c.637C>G (p.Arg213Gly)
|
rs397516436
|
|
NM_000546.6(TP53):c.638G>A (p.Arg213Gln)
|
rs587778720
|
|
NM_000546.6(TP53):c.638G>C (p.Arg213Pro)
|
rs587778720
|
|
NM_000546.6(TP53):c.638G>T (p.Arg213Leu)
|
rs587778720
|
|
NM_000546.6(TP53):c.644G>A (p.Ser215Asn)
|
rs587782177
|
|
NM_000546.6(TP53):c.646G>A (p.Val216Met)
|
rs730882025
|
|
NM_000546.6(TP53):c.658T>C (p.Tyr220His)
|
rs530941076
|
|
NM_000546.6(TP53):c.671A>G (p.Glu224Gly)
|
rs1131691028
|
|
NM_000546.6(TP53):c.672+1G>A
|
rs863224499
|
|
NM_000546.6(TP53):c.677G>C (p.Gly226Ala)
|
rs970212462
|
|
NM_000546.6(TP53):c.700T>A (p.Tyr234Asn)
|
rs864622237
|
|
NM_000546.6(TP53):c.700T>C (p.Tyr234His)
|
rs864622237
|
|
NM_000546.6(TP53):c.700T>G (p.Tyr234Asp)
|
rs864622237
|
|
NM_000546.6(TP53):c.701A>C (p.Tyr234Ser)
|
rs587780073
|
|
NM_000546.6(TP53):c.701A>G (p.Tyr234Cys)
|
rs587780073
|
|
NM_000546.6(TP53):c.711G>T (p.Met237Ile)
|
rs587782664
|
|
NM_000546.6(TP53):c.715A>G (p.Asn239Asp)
|
rs876660807
|
|
NM_000546.6(TP53):c.717C>G (p.Asn239Lys)
|
rs1057522275
|
|
NM_000546.6(TP53):c.717del (p.Asn239fs)
|
|
|
NM_000546.6(TP53):c.722C>T (p.Ser241Phe)
|
rs28934573
|
|
NM_000546.6(TP53):c.722_728del (p.Ser241fs)
|
|
|
NM_000546.6(TP53):c.728T>C (p.Met243Thr)
|
rs730882006
|
|
NM_000546.6(TP53):c.72dup (p.Leu25fs)
|
rs2151047224
|
|
NM_000546.6(TP53):c.730G>A (p.Gly244Ser)
|
rs1057519989
|
|
NM_000546.6(TP53):c.734G>A (p.Gly245Asp)
|
rs121912656
|
|
NM_000546.6(TP53):c.734G>T (p.Gly245Val)
|
rs121912656
|
|
NM_000546.6(TP53):c.742C>T (p.Arg248Trp)
|
rs121912651
|
|
NM_000546.6(TP53):c.743G>T (p.Arg248Leu)
|
rs11540652
|
|
NM_000546.6(TP53):c.745A>T (p.Arg249Trp)
|
rs587782082
|
|
NM_000546.6(TP53):c.748C>G (p.Pro250Ala)
|
|
|
NM_000546.6(TP53):c.783-10T>G
|
|
|
NM_000546.6(TP53):c.799C>G (p.Arg267Gly)
|
|
|
NM_000546.6(TP53):c.799C>T (p.Arg267Trp)
|
rs55832599
|
|
NM_000546.6(TP53):c.809T>G (p.Phe270Cys)
|
rs1057519986
|
|
NM_000546.6(TP53):c.817C>A (p.Arg273Ser)
|
rs121913343
|
|
NM_000546.6(TP53):c.817C>G (p.Arg273Gly)
|
rs121913343
|
|
NM_000546.6(TP53):c.818G>A (p.Arg273His)
|
rs28934576
|
|
NM_000546.6(TP53):c.818G>C (p.Arg273Pro)
|
rs28934576
|
|
NM_000546.6(TP53):c.818G>T (p.Arg273Leu)
|
rs28934576
|
|
NM_000546.6(TP53):c.823T>C (p.Cys275Arg)
|
rs1057519983
|
|
NM_000546.6(TP53):c.824G>C (p.Cys275Ser)
|
rs863224451
|
|
NM_000546.6(TP53):c.824G>T (p.Cys275Phe)
|
rs863224451
|
|
NM_000546.6(TP53):c.830G>A (p.Cys277Tyr)
|
rs763098116
|
|
NM_000546.6(TP53):c.835G>A (p.Gly279Arg)
|
rs1555525248
|
|
NM_000546.6(TP53):c.838A>G (p.Arg280Gly)
|
rs753660142
|
|
NM_000546.6(TP53):c.842A>C (p.Asp281Ala)
|
rs587781525
|
|
NM_000546.6(TP53):c.845G>A (p.Arg282Gln)
|
rs730882008
|
|
NM_000546.6(TP53):c.845G>C (p.Arg282Pro)
|
rs730882008
|
|
NM_000546.6(TP53):c.845G>T (p.Arg282Leu)
|
rs730882008
|
|
NM_000546.6(TP53):c.851C>G (p.Thr284Arg)
|
|
|
NM_000546.6(TP53):c.854A>T (p.Glu285Val)
|
rs121912667
|
|
NM_000546.6(TP53):c.871A>G (p.Lys291Glu)
|
rs1555525126
|
|
NM_000546.6(TP53):c.876A>T (p.Lys292Asn)
|
|
|
NM_000546.6(TP53):c.893A>C (p.Glu298Ala)
|
|
|
NM_000546.6(TP53):c.934A>G (p.Thr312Ala)
|
|
|
NM_000546.6(TP53):c.950A>T (p.Gln317Leu)
|
rs1159579789
|
|
NM_000546.6(TP53):c.96+1G>T
|
rs1131691003
|
|
NM_000546.6(TP53):c.965C>G (p.Pro322Arg)
|
|
|
NM_000546.6(TP53):c.967C>G (p.Leu323Val)
|
|
|
NM_000546.6(TP53):c.97-11C>G
|
rs769697802
|
|
NM_000546.6(TP53):c.974G>A (p.Gly325Glu)
|
rs121912659
|
|
NM_000546.6(TP53):c.978A>T (p.Glu326Asp)
|
rs1000256867
|
|
NM_000546.6(TP53):c.97_99del (p.Ser33del)
|
|
|
NM_000551.4(VHL):c.194C>T (p.Ser65Leu)
|
rs5030826
|
|
NM_000551.4(VHL):c.530_536del (p.Arg177fs)
|
rs1575932266
|
|
NM_000969.5(RPL5):c.74-1G>C
|
rs1553284997
|
|
NM_001009944.3(PKD1):c.359T>C (p.Ile120Thr)
|
rs1555459345
|
|
NM_001114753.3(ENG):c.920dup (p.Asn307fs)
|
rs1554810174
|
|
NM_001123385.2(BCOR):c.398_399insAC (p.Ala134fs)
|
rs1555919960
|
|
NM_001123385.2(BCOR):c.4063G>T (p.Glu1355Ter)
|
rs780712297
|
|
NM_001123385.2(BCOR):c.4787_4802del (p.Gly1596fs)
|
rs1555913337
|
|
NM_001146079.2(CLDN14):c.116_118del (p.Asn39del)
|
|
|
NM_001146079.2(CLDN14):c.337G>C (p.Ala113Pro)
|
rs138631461
|
|
NM_001197104.2(KMT2A):c.2318dup (p.Ser774fs)
|
rs782297546
|
|
NM_001243133.2(NLRP3):c.29G>T (p.Arg10Met)
|
rs2103083622
|
|
NM_001256071.3(RNF213):c.114C>G (p.Asn38Lys)
|
|
|
NM_001284236.3(ZFYVE16):c.3442G>T (p.Asp1148Tyr)
|
rs1554047435
|
|
NM_001291303.3(FAT4):c.13985C>G (p.Ala4662Gly)
|
rs1727604042
|
|
NM_001349798.2(FBXW7):c.1393C>G (p.Arg465Gly)
|
rs867384286
|
|
NM_001349798.2(FBXW7):c.1393C>T (p.Arg465Cys)
|
rs867384286
|
|
NM_001349798.2(FBXW7):c.1394G>A (p.Arg465His)
|
rs1057519895
|
|
NM_001349798.2(FBXW7):c.1394G>C (p.Arg465Pro)
|
rs1057519895
|
|
NM_001349798.2(FBXW7):c.1394G>T (p.Arg465Leu)
|
rs1057519895
|
|
NM_001367977.2(SCUBE2):c.2057G>A (p.Cys686Tyr)
|
rs1555238867
|
|
NM_001374828.1(ARID1B):c.4453C>T (p.Gln1485Ter)
|
rs2128366503
|
|
NM_001374828.1(ARID1B):c.6337C>T (p.Arg2113Ter)
|
rs797045283
|
|
NM_001412.4(EIF1AX):c.17G>T (p.Gly6Val)
|
|
|
NM_001455.4(FOXO3):c.583A>T (p.Lys195Ter)
|
rs1554209779
|
|
NM_001530.4(HIF1A):c.1369G>A (p.Glu457Lys)
|
|
|
NM_001530.4(HIF1A):c.148G>C (p.Val50Leu)
|
|
|
NM_001530.4(HIF1A):c.1961C>T (p.Ala654Val)
|
|
|
NM_001792.5(CDH2):c.2075A>G (p.Asn692Ser)
|
rs1555630396
|
|
NM_001844.5(COL2A1):c.1955A>G (p.Glu652Gly)
|
rs2136556852
|
|
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.121A>G (p.Thr41Ala)
|
rs121913412
|
|
NM_001904.4(CTNNB1):c.122C>A (p.Thr41Asn)
|
rs121913413
|
|
NM_001904.4(CTNNB1):c.122C>T (p.Thr41Ile)
|
rs121913413
|
|
NM_001904.4(CTNNB1):c.133T>C (p.Ser45Pro)
|
rs121913407
|
|
NM_001904.4(CTNNB1):c.134C>A (p.Ser45Tyr)
|
rs121913409
|
|
NM_001904.4(CTNNB1):c.134C>G (p.Ser45Cys)
|
rs121913409
|
|
NM_001904.4(CTNNB1):c.134C>T (p.Ser45Phe)
|
rs121913409
|
|
NM_002060.3(GJA4):c.121G>T (p.Gly41Cys)
|
rs1640240555
|
|
NM_002107.7(H3-3A):c.100G>C (p.Gly34Arg)
|
rs1057519902
|
|
NM_002253.4(KDR):c.1136C>T (p.Ala379Val)
|
|
|
NM_002253.4(KDR):c.3006G>C (p.Leu1002Phe)
|
|
|
NM_002253.4(KDR):c.3663T>C (p.Ser1221=)
|
|
|
NM_002401.5(MAP3K3):c.1323C>G (p.Ile441Met)
|
rs2143631386
|
|
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys)
|
rs121913254
|
|
NM_002524.5(NRAS):c.182A>C (p.Gln61Pro)
|
rs11554290
|
|
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg)
|
rs11554290
|
|
NM_002524.5(NRAS):c.182A>T (p.Gln61Leu)
|
rs11554290
|
|
NM_002524.5(NRAS):c.183A>T (p.Gln61His)
|
rs121913255
|
|
NM_002524.5(NRAS):c.191_196dup (p.Ser65_Ala66insAspSer)
|
|
|
NM_002734.5(PRKAR1A):c.1003C>T (p.Arg335Cys)
|
rs1555815121
|
|
NM_002734.5(PRKAR1A):c.25A>G (p.Ser9Gly)
|
rs778468626
|
|
NM_002734.5(PRKAR1A):c.424GAT[1] (p.Asp143del)
|
rs1308936763
|
|
NM_002734.5(PRKAR1A):c.440+15T>C
|
rs78183210
|
|
NM_002734.5(PRKAR1A):c.464C>T (p.Ser155Leu)
|
rs1568696484
|
|
NM_002734.5(PRKAR1A):c.503-13dup
|
rs138285568
|
|
NM_002734.5(PRKAR1A):c.550G>A (p.Val184Ile)
|
rs773162575
|
|
NM_002734.5(PRKAR1A):c.618_621del (p.Ile206fs)
|
rs281864791
|
|
NM_002734.5(PRKAR1A):c.691T>C (p.Tyr231His)
|
rs2143324114
|
|
NM_002734.5(PRKAR1A):c.709-7_709-2del
|
rs281864801
|
|
NM_002734.5(PRKAR1A):c.770-9G>T
|
rs562094333
|
|
NM_002734.5(PRKAR1A):c.797C>T (p.Thr266Met)
|
rs1329426125
|
|
NM_002890.3(RASA1):c.1657dup (p.Tyr553fs)
|
rs2112474795
|
|
NM_002890.3(RASA1):c.475_476del (p.Leu159fs)
|
rs797044451
|
|
NM_003002.4(SDHD):c.1A>G (p.Met1Val)
|
rs104894307
|
|
NM_003070.5(SMARCA2):c.2564G>T (p.Arg855Leu)
|
rs1471482709
|
|
NM_003070.5(SMARCA2):c.3638G>C (p.Arg1213Pro)
|
rs1314729940
|
|
NM_003072.5(SMARCA4):c.276G>C (p.Gln92His)
|
rs1555752030
|
|
NM_003073.5(SMARCB1):c.110G>C (p.Arg37Pro)
|
rs398122368
|
|
NM_003482.4(KMT2D):c.11047C>T (p.Gln3683Ter)
|
rs1565779530
|
|
NM_003482.4(KMT2D):c.15689G>A (p.Cys5230Tyr)
|
rs2137715091
|
|
NM_004297.4(GNA14):c.215C>T (p.Thr72Met)
|
|
|
NM_004297.4(GNA14):c.356T>C (p.Met119Thr)
|
|
|
NM_004297.4(GNA14):c.614A>T (p.Gln205Leu)
|
rs1554685903
|
|
NM_004297.4(GNA14):c.817G>C (p.Asp273His)
|
|
|
NM_004333.6(BRAF):c.1780G>A (p.Asp594Asn)
|
rs397516896
|
|
NM_004333.6(BRAF):c.1780G>C (p.Asp594His)
|
rs397516896
|
|
NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly)
|
rs121913338
|
|
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu)
|
rs113488022
|
|
NM_004333.6(BRAF):c.1906C>T (p.Gln636Ter)
|
rs1585998247
|
|
NM_004380.3(CREBBP):c.4336C>G (p.Arg1446Gly)
|
rs398124146
|
|
NM_004380.3(CREBBP):c.4336C>T (p.Arg1446Cys)
|
rs398124146
|
|
NM_004380.3(CREBBP):c.4337G>A (p.Arg1446His)
|
rs1057519884
|
|
NM_004380.3(CREBBP):c.4337G>T (p.Arg1446Leu)
|
rs1057519884
|
|
NM_004444.5(EPHB4):c.1295_1296del (p.Glu432fs)
|
rs2116449991
|
|
NM_004444.5(EPHB4):c.1526C>G (p.Ala509Gly)
|
rs146937374
|
|
NM_004444.5(EPHB4):c.2600T>C (p.Phe867Ser)
|
rs2116413948
|
|
NM_004557.4(NOTCH4):c.4855C>A (p.Leu1619Met)
|
rs755664291
|
|
NM_004656.4(BAP1):c.188C>G (p.Ser63Cys)
|
rs747311942
|
|
NM_004656.4(BAP1):c.374A>C (p.Glu125Ala)
|
rs1553645926
|
|
NM_004972.4(JAK2):c.2385G>T (p.Arg795Ser)
|
rs1819621092
|
|
NM_004985.5(KRAS):c.112-9C>T
|
rs727504298
|
|
NM_004985.5(KRAS):c.183A>T (p.Gln61His)
|
rs17851045
|
|
NM_004985.5(KRAS):c.197_223dup (p.Ala66_Thr74dup)
|
rs2141509708
|
|
NM_004985.5(KRAS):c.34G>C (p.Gly12Arg)
|
rs121913530
|
|
NM_004985.5(KRAS):c.35G>T (p.Gly12Val)
|
rs121913529
|
|
NM_004985.5(KRAS):c.388_389delinsAT (p.Ala130Ile)
|
rs1951383854
|
|
NM_004985.5(KRAS):c.458A>T (p.Asp153Val)
|
rs104894360
|
|
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg)
|
rs727503110
|
|
NM_004991.4(MECOM):c.2200C>T (p.Gln734Ter)
|
rs1553838272
|
|
NM_005120.3(MED12):c.130G>A (p.Gly44Ser)
|
rs199469669
|
|
NM_005228.5(EGFR):c.1881-858G>T
|
rs909905659
|
|
NM_005343.4(HRAS):c.172_177delinsGTCCTGGATGTT (p.Thr58_Ala59delinsValLeuAspVal)
|
rs1589792836
|
|
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser)
|
rs104894229
|
|
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys)
|
rs104894229
|
|
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala)
|
rs104894230
|
|
NM_005401.5(PTPN14):c.*6320C>T
|
|
|
NM_005401.5(PTPN14):c.-154-22749A>G
|
|
|
NM_005401.5(PTPN14):c.-154-42562G>A
|
|
|
NM_005401.5(PTPN14):c.1574C>T (p.Pro525Leu)
|
|
|
NM_005401.5(PTPN14):c.2164C>T (p.Pro722Ser)
|
|
|
NM_005401.5(PTPN14):c.2596A>G (p.Met866Val)
|
|
|
NM_005401.5(PTPN14):c.3500T>C (p.Ile1167Thr)
|
|
|
NM_005401.5(PTPN14):c.401_402insTT (p.Leu135fs)
|
rs1558092113
|
|
NM_005401.5(PTPN14):c.581+60_669+877del
|
|
|
NM_005401.5(PTPN14):c.679G>T (p.Gly227Ter)
|
|
|
NM_005401.5(PTPN14):c.715A>T (p.Ile239Phe)
|
|
|
NM_005401.5(PTPN14):c.929+24del
|
rs11322819
|
|
NM_005465.7(AKT3):c.1393C>T (p.Arg465Trp)
|
rs587776935
|
|
NM_005633.4(SOS1):c.1300G>A (p.Gly434Arg)
|
rs397517148
|
|
NM_005896.4(IDH1):c.394C>A (p.Arg132Ser)
|
rs121913499
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NM_005896.4(IDH1):c.394C>G (p.Arg132Gly)
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rs121913499
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NM_005896.4(IDH1):c.395G>T (p.Arg132Leu)
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rs121913500
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NM_006218.4(PIK3CA):c.1033A>C (p.Asn345His)
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rs1057519939
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NM_006218.4(PIK3CA):c.1034A>C (p.Asn345Thr)
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rs1057519938
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NM_006218.4(PIK3CA):c.1034A>T (p.Asn345Ile)
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rs1057519938
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NM_006218.4(PIK3CA):c.1035T>A (p.Asn345Lys)
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rs121913284
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NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg)
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rs121913272
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NM_006218.4(PIK3CA):c.1258T>G (p.Cys420Gly)
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rs121913272
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NM_006218.4(PIK3CA):c.2086G>A (p.Gly696Arg)
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rs2108413471
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NM_006218.4(PIK3CA):c.3127A>G (p.Met1043Val)
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rs1057519936
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NM_006218.4(PIK3CA):c.3127A>T (p.Met1043Leu)
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rs1057519936
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NM_006218.4(PIK3CA):c.3128T>C (p.Met1043Thr)
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rs1057519937
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NM_006218.4(PIK3CA):c.3129G>A (p.Met1043Ile)
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rs121913283
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NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr)
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rs121913281
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NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg)
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rs121913279
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NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu)
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rs121913279
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NM_006218.4(PIK3CA):c.3141T>G (p.His1047Gln)
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rs1057519932
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NM_006513.4(SARS1):c.971T>C (p.Ile324Thr)
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rs1553178399
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NM_006766.5(KAT6A):c.1433C>T (p.Thr478Ile)
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rs1554688023
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NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg)
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rs869320686
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NM_012433.4(SF3B1):c.1873C>T (p.Arg625Cys)
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rs775623976
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NM_012433.4(SF3B1):c.1874G>A (p.Arg625His)
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rs1057519961
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NM_014319.5(LEMD3):c.1522+11509_1522+11513del
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NM_014319.5(LEMD3):c.2639C>G (p.Thr880Ser)
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rs1555196298
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NM_015061.6(KDM4C):c.1112G>A (p.Arg371Gln)
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NM_017617.5(NOTCH1):c.2825G>A (p.Cys942Tyr)
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rs1554728658
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NM_017617.5(NOTCH1):c.4045_4052del (p.Ala1349fs)
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rs1554728034
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NM_021098.3(CACNA1H):c.6884C>T (p.Ser2295Phe)
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rs772718469
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NM_022455.5(NSD1):c.7147G>T (p.Gly2383Cys)
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rs1554207664
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NM_024592.5(SRD5A3):c.951_955del (p.Phe318fs)
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rs565935886
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NM_031220.4(PITPNM3):c.274C>T (p.Arg92Ter)
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rs1555556099
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NM_031443.4(CCM2):c.354C>G (p.Tyr118Ter)
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rs765548101
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NM_032119.4(ADGRV1):c.5188A>T (p.Ile1730Phe)
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rs1554079046
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NM_033360.4(KRAS):c.*101_*106del
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rs1339924833
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NM_033360.4(KRAS):c.57G>T (p.Leu19Phe)
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rs121913538
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NM_053274.3(GLMN):c.108C>A (p.Cys36Ter)
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rs770780171
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NM_133171.5(ELMO2):c.1065+1G>T
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|
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NM_133171.5(ELMO2):c.1279+19del
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rs76979752
|
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NM_133171.5(ELMO2):c.1525C>T (p.Arg509Ter)
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rs1568748859
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NM_133171.5(ELMO2):c.1802-1G>C
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rs886037918
|
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NM_133171.5(ELMO2):c.2080del (p.Leu694fs)
|
rs886037919
|
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NM_133171.5(ELMO2):c.311dup (p.Met104fs)
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rs2145827538
|
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NM_139276.3(STAT3):c.1467T>A (p.Asn489Lys)
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rs1555564365
|
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NM_152641.4(ARID2):c.2989C>T (p.Gln997Ter)
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rs1555155110
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NM_182641.4(BPTF):c.6035T>C (p.Ile2012Thr)
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NM_182925.5(FLT4):c.3179G>A (p.Arg1060Gln)
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NM_194454.3(KRIT1):c.902C>G (p.Ser301Ter)
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rs1554527169
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NM_194454.3(KRIT1):c.990-1G>A
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rs1554518790
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Single allele
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t(12;16)(q13.13;p11.2)
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|
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t(17;19)(q25.1;p13.3)
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t(6;9)(q22.1;q34.3)
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t(6;9)(q23.3;p22.3)
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t(8;9)(q13.1;p22.3)
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