NM_001348946.2(ABCB1):c.3435T>C (p.Ile1145=)
|
rs1045642
|
0.57896
|
NM_007294.4(BRCA1):c.671-248_671-246dup
|
rs5820483
|
0.33157
|
NM_000400.4(ERCC2):c.2251A>C (p.Lys751Gln)
|
rs13181
|
0.31719
|
NM_007294.4(BRCA1):c.5152+66G>A
|
rs3092994
|
0.30314
|
NM_007294.4(BRCA1):c.4308T>C (p.Ser1436=)
|
rs1060915
|
0.29170
|
NM_007294.4(BRCA1):c.2311T>C (p.Leu771=)
|
rs16940
|
0.29035
|
NM_000059.4(BRCA2):c.3396A>G (p.Lys1132=)
|
rs1801406
|
0.28273
|
NM_007294.4(BRCA1):c.5074+65G>A
|
rs8176235
|
0.23738
|
NM_007294.4(BRCA1):c.5074+284C>A
|
rs11654396
|
0.23139
|
NM_000903.3(NQO1):c.559C>T (p.Pro187Ser)
|
rs1800566
|
0.20869
|
NM_000059.4(BRCA2):c.-26G>A
|
rs1799943
|
0.20795
|
NM_000368.5(TSC1):c.1142-33A>G
|
rs6597586
|
0.15388
|
NM_000368.5(TSC1):c.965T>C (p.Met322Thr)
|
rs1073123
|
0.15387
|
NM_000548.5(TSC2):c.482-3C>T
|
rs1800720
|
0.12927
|
NM_004827.3(ABCG2):c.421C>A (p.Gln141Lys)
|
rs2231142
|
0.09384
|
NM_000368.5(TSC1):c.2829C>T (p.Ala943=)
|
rs4962081
|
0.08329
|
NM_000222.3(KIT):c.1621A>C (p.Met541Leu)
|
rs3822214
|
0.07727
|
NM_006297.3(XRCC1):c.580C>T (p.Arg194Trp)
|
rs1799782
|
0.06906
|
NM_002412.5(MGMT):c.-28C>T
|
rs16906252
|
0.05114
|
NM_002019.4(FLT1):c.2901G>A (p.Ala967=)
|
rs56314249
|
0.03272
|
NM_000368.5(TSC1):c.3324C>T (p.Gly1108=)
|
rs35593170
|
0.00704
|
NM_006182.4(DDR2):c.1513G>A (p.Gly505Ser)
|
rs115169993
|
0.00292
|
NM_000368.5(TSC1):c.2646C>T (p.Ala882=)
|
rs118203720
|
0.00269
|
NM_000368.5(TSC1):c.1726T>C (p.Leu576=)
|
rs118203567
|
0.00165
|
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys)
|
rs1801155
|
0.00116
|
NM_000251.3(MSH2):c.942+3A>T
|
rs193922376
|
0.00072
|
NM_024529.5(CDC73):c.-11G>A
|
rs80356643
|
0.00056
|
NM_003000.3(SDHB):c.158G>A (p.Gly53Glu)
|
rs34916635
|
0.00041
|
NM_032043.3(BRIP1):c.2220G>T (p.Gln740His)
|
rs45589637
|
0.00041
|
NM_024642.5(GALNT12):c.566A>G (p.Asn189Ser)
|
rs183981750
|
0.00039
|
NM_004360.5(CDH1):c.808T>G (p.Ser270Ala)
|
rs587776399
|
0.00038
|
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe)
|
rs77375493
|
0.00036
|
NM_004364.5(CEBPA):c.724G>A (p.Gly242Ser)
|
rs530569305
|
0.00031
|
NM_004360.5(CDH1):c.2413G>A (p.Asp805Asn)
|
rs200894246
|
0.00026
|
NM_005228.5(EGFR):c.2543C>T (p.Pro848Leu)
|
rs148934350
|
0.00026
|
NM_005732.4(RAD50):c.1094G>A (p.Arg365Gln)
|
rs146370443
|
0.00026
|
NM_004119.3(FLT3):c.2211G>C (p.Met737Ile)
|
rs148592477
|
0.00025
|
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter)
|
rs142441643
|
0.00025
|
NM_004360.5(CDH1):c.8C>G (p.Pro3Arg)
|
rs587782484
|
0.00023
|
NM_000051.4(ATM):c.8734A>G (p.Arg2912Gly)
|
rs376676328
|
0.00019
|
NM_000535.7(PMS2):c.1243G>A (p.Val415Met)
|
rs138387687
|
0.00019
|
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)
|
rs121434629
|
0.00018
|
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys)
|
rs141568342
|
0.00015
|
NM_020975.6(RET):c.2522C>T (p.Pro841Leu)
|
rs149891333
|
0.00015
|
NM_000051.4(ATM):c.4066A>G (p.Asn1356Asp)
|
rs147600485
|
0.00014
|
NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser)
|
rs587780179
|
0.00014
|
NM_000051.4(ATM):c.8560C>T (p.Arg2854Cys)
|
rs201958469
|
0.00013
|
NM_000179.3(MSH6):c.650A>G (p.Asp217Gly)
|
rs554012110
|
0.00013
|
NM_000251.3(MSH2):c.2425G>A (p.Glu809Lys)
|
rs202145681
|
0.00013
|
NM_000465.4(BARD1):c.659T>C (p.Leu220Ser)
|
rs138593305
|
0.00013
|
NM_000251.3(MSH2):c.128A>G (p.Tyr43Cys)
|
rs17217723
|
0.00011
|
NM_004360.5(CDH1):c.1223C>T (p.Ala408Val)
|
rs138135866
|
0.00011
|
NM_032043.3(BRIP1):c.3444C>A (p.Asp1148Glu)
|
rs28997573
|
0.00011
|
NM_000368.5(TSC1):c.3303G>A (p.Glu1101=)
|
rs118203751
|
0.00010
|
NM_000051.4(ATM):c.6475T>G (p.Cys2159Gly)
|
rs150408832
|
0.00009
|
NM_000465.4(BARD1):c.1127C>T (p.Ser376Leu)
|
rs587782333
|
0.00009
|
NM_004168.4(SDHA):c.1055G>A (p.Arg352Gln)
|
rs199844384
|
0.00009
|
NM_000142.5(FGFR3):c.1887C>T (p.Asn629=)
|
rs104886004
|
0.00007
|
NM_000465.4(BARD1):c.946T>G (p.Leu316Val)
|
rs587782325
|
0.00007
|
NM_000251.3(MSH2):c.382C>G (p.Leu128Val)
|
rs145649774
|
0.00006
|
NM_005228.5(EGFR):c.2544G>A (p.Pro848=)
|
rs104886012
|
0.00006
|
NM_006182.4(DDR2):c.187C>G (p.Leu63Val)
|
rs144594252
|
0.00006
|
NM_024529.5(CDC73):c.1066+8T>C
|
rs80356647
|
0.00006
|
NM_000245.4(MET):c.4007G>A (p.Arg1336Gln)
|
rs369312680
|
0.00005
|
NM_000249.4(MLH1):c.1489C>T (p.Arg497Trp)
|
rs200830026
|
0.00005
|
NM_000038.6(APC):c.6977G>A (p.Arg2326Gln)
|
rs531178000
|
0.00004
|
NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter)
|
rs587779852
|
0.00004
|
NM_000051.4(ATM):c.8968G>A (p.Glu2990Lys)
|
rs1800558
|
0.00004
|
NM_000179.3(MSH6):c.1402C>T (p.Arg468Cys)
|
rs369456858
|
0.00004
|
NM_000249.4(MLH1):c.299G>A (p.Arg100Gln)
|
rs63750266
|
0.00004
|
NM_000249.4(MLH1):c.808A>G (p.Thr270Ala)
|
rs371302926
|
0.00004
|
NM_000465.4(BARD1):c.1877A>G (p.Asn626Ser)
|
rs587781443
|
0.00004
|
NM_000465.4(BARD1):c.97G>C (p.Ala33Pro)
|
rs587782465
|
0.00004
|
NM_000535.7(PMS2):c.1A>G (p.Met1Val)
|
rs587779333
|
0.00004
|
NM_000546.6(TP53):c.460G>A (p.Gly154Ser)
|
rs137852789
|
0.00004
|
NM_002878.4(RAD51D):c.796C>T (p.Arg266Cys)
|
rs587781813
|
0.00004
|
NM_004168.4(SDHA):c.313-7T>C
|
rs201972549
|
0.00004
|
NM_004972.4(JAK2):c.2571+5A>C
|
rs775085241
|
0.00004
|
NM_024675.4(PALB2):c.2674G>A (p.Glu892Lys)
|
rs45476495
|
0.00004
|
NM_000051.4(ATM):c.2222A>G (p.Tyr741Cys)
|
rs878853492
|
0.00003
|
NM_000251.3(MSH2):c.1906G>C (p.Ala636Pro)
|
rs63750875
|
0.00003
|
NM_004360.5(CDH1):c.2074G>A (p.Ala692Thr)
|
rs376854556
|
0.00003
|
NM_020975.6(RET):c.1737C>G (p.Asn579Lys)
|
rs144455821
|
0.00003
|
NM_020975.6(RET):c.1998G>T (p.Lys666Asn)
|
rs146646971
|
0.00003
|
NM_032043.3(BRIP1):c.2469G>T (p.Arg823Ser)
|
rs587780239
|
0.00003
|
NM_000059.4(BRCA2):c.72A>T (p.Leu24Phe)
|
rs397507909
|
0.00002
|
NM_000142.5(FGFR3):c.1935C>T (p.Leu645=)
|
rs104886006
|
0.00002
|
NM_000321.3(RB1):c.1981C>T (p.Arg661Trp)
|
rs137853294
|
0.00002
|
NM_004168.4(SDHA):c.1652C>T (p.Thr551Met)
|
rs181238392
|
0.00002
|
NM_004168.4(SDHA):c.1679C>T (p.Thr560Met)
|
rs775350508
|
0.00002
|
NM_004327.4(BCR):c.2699A>G (p.Asn900Ser)
|
rs752530462
|
0.00002
|
NM_005762.3(TRIM28):c.1216+23C>T
|
rs398122526
|
0.00002
|
NM_017617.5(NOTCH1):c.6979C>T (p.Arg2327Trp)
|
rs751007903
|
0.00002
|
NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter)
|
rs180177132
|
0.00002
|
NM_000051.4(ATM):c.2T>C (p.Met1Thr)
|
rs786203606
|
0.00001
|
NM_000051.4(ATM):c.3663G>A (p.Trp1221Ter)
|
rs864622490
|
0.00001
|
NM_000051.4(ATM):c.496+3A>G
|
rs876658311
|
0.00001
|
NM_000051.4(ATM):c.7630-2A>C
|
rs587779866
|
0.00001
|
NM_000051.4(ATM):c.8983C>A (p.Leu2995Ile)
|
rs142322668
|
0.00001
|
NM_000059.4(BRCA2):c.3264_3265insTT (p.Gln1089fs)
|
rs80359380
|
0.00001
|
NM_000059.4(BRCA2):c.5188A>T (p.Asn1730Tyr)
|
rs397507770
|
0.00001
|
NM_000059.4(BRCA2):c.6235del (p.Val2079fs)
|
rs397507835
|
0.00001
|
NM_000059.4(BRCA2):c.8414T>C (p.Leu2805Ser)
|
rs397507983
|
0.00001
|
NM_000179.3(MSH6):c.1097A>G (p.Tyr366Cys)
|
rs1482767334
|
0.00001
|
NM_000179.3(MSH6):c.1346T>C (p.Leu449Pro)
|
rs63750741
|
0.00001
|
NM_000179.3(MSH6):c.1565A>G (p.Gln522Arg)
|
rs63751009
|
0.00001
|
NM_000179.3(MSH6):c.467C>G (p.Ser156Ter)
|
rs63749873
|
0.00001
|
NM_000179.3(MSH6):c.651dup (p.Lys218Ter)
|
rs63750955
|
0.00001
|
NM_000179.3(MSH6):c.905G>A (p.Arg302Lys)
|
rs587781510
|
0.00001
|
NM_000249.4(MLH1):c.1897-7C>T
|
rs373078652
|
0.00001
|
NM_000251.3(MSH2):c.1175A>T (p.Lys392Met)
|
rs61756465
|
0.00001
|
NM_000321.3(RB1):c.1268G>A (p.Gly423Glu)
|
rs748635133
|
0.00001
|
NM_000368.5(TSC1):c.1250C>T (p.Thr417Ile)
|
rs77464996
|
0.00001
|
NM_000368.5(TSC1):c.203A>G (p.His68Arg)
|
rs118203347
|
0.00001
|
NM_000465.4(BARD1):c.1448A>G (p.His483Arg)
|
rs587781874
|
0.00001
|
NM_000465.4(BARD1):c.1808C>A (p.Thr603Lys)
|
rs730881421
|
0.00001
|
NM_000465.4(BARD1):c.1868G>A (p.Gly623Glu)
|
rs587782252
|
0.00001
|
NM_000465.4(BARD1):c.614A>G (p.Lys205Arg)
|
rs587782437
|
0.00001
|
NM_000535.7(PMS2):c.1715C>T (p.Ala572Val)
|
rs770625733
|
0.00001
|
NM_000535.7(PMS2):c.2567T>G (p.Leu856Arg)
|
rs587782342
|
0.00001
|
NM_000546.6(TP53):c.462C>T (p.Gly154=)
|
rs137852793
|
0.00001
|
NM_000546.6(TP53):c.969G>A (p.Leu323=)
|
rs672601297
|
0.00001
|
NM_001002295.2(GATA3):c.1032C>T (p.Leu344=)
|
rs104886017
|
0.00001
|
NM_001002295.2(GATA3):c.925-16C>T
|
rs104886016
|
0.00001
|
NM_001641.4(APEX1):c.259G>C (p.Glu87Gln)
|
rs762384959
|
0.00001
|
NM_004168.4(SDHA):c.1099C>G (p.Gln367Glu)
|
rs780941330
|
0.00001
|
NM_004360.5(CDH1):c.1493A>C (p.Asp498Ala)
|
rs876661065
|
0.00001
|
NM_004360.5(CDH1):c.2398C>T (p.Arg800Cys)
|
rs587782162
|
0.00001
|
NM_004360.5(CDH1):c.370C>T (p.Arg124Cys)
|
rs748086082
|
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.437C>T (p.Ala146Val)
|
rs1057519725
|
0.00001
|
NM_005228.5(EGFR):c.2327G>A (p.Arg776His)
|
rs483352806
|
0.00001
|
NM_005228.5(EGFR):c.2602G>A (p.Glu868Lys)
|
rs104886013
|
0.00001
|
NM_005896.4(IDH1):c.395G>A (p.Arg132His)
|
rs121913500
|
0.00001
|
NM_007194.4(CHEK2):c.1265G>A (p.Ser422Asn)
|
rs549755590
|
0.00001
|
NM_020975.6(RET):c.1826G>A (p.Cys609Tyr)
|
rs77939446
|
0.00001
|
NM_020975.6(RET):c.2370G>T (p.Leu790Phe)
|
rs75030001
|
0.00001
|
NM_024675.4(PALB2):c.1616_1617dup (p.Asn540fs)
|
rs786203346
|
0.00001
|
NM_032043.3(BRIP1):c.1315C>T (p.Arg439Ter)
|
rs587780226
|
0.00001
|
GRCh37/hg19 17q21.31(chr17:41230488-41235856)x3
|
|
|
GRCh37/hg19 7p22.1(chr7:6026390-6027251)x3
|
|
|
NM_000038.6(APC):c.2413C>T (p.Arg805Ter)
|
rs587779783
|
|
NM_000044.6(AR):c.2629T>C (p.Phe877Leu)
|
rs1057519864
|
|
NM_000051.4(ATM):c.2546T>C (p.Val849Ala)
|
rs1555082209
|
|
NM_000051.4(ATM):c.2638+2T>C
|
rs587779826
|
|
NM_000051.4(ATM):c.2849T>G (p.Leu950Arg)
|
rs786203054
|
|
NM_000051.4(ATM):c.3245_3247delinsTGAT (p.His1082fs)
|
rs587776549
|
|
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer)
|
rs587779834
|
|
NM_000051.4(ATM):c.4643A>T (p.Asp1548Val)
|
rs1448017467
|
|
NM_000051.4(ATM):c.6916_6917del (p.Leu2307fs)
|
rs878853535
|
|
NM_000051.4(ATM):c.809G>A (p.Arg270Lys)
|
rs587781857
|
|
NM_000051.4(ATM):c.8565T>G (p.Ser2855Arg)
|
rs780905851
|
|
NM_000051.4(ATM):c.8623A>C (p.Asn2875His)
|
rs1057519869
|
|
NM_000051.4(ATM):c.8879G>A (p.Trp2960Ter)
|
rs1131691149
|
|
NM_000059.4(BRCA2):c.-33T>C
|
rs397507566
|
|
NM_000059.4(BRCA2):c.10071del (p.Gly3358fs)
|
rs397507567
|
|
NM_000059.4(BRCA2):c.1082del (p.Asn361fs)
|
rs397507569
|
|
NM_000059.4(BRCA2):c.1176_1180del (p.Cys393fs)
|
rs397507574
|
|
NM_000059.4(BRCA2):c.1241T>A (p.Leu414Ter)
|
rs397507576
|
|
NM_000059.4(BRCA2):c.1310_1311del (p.Lys437fs)
|
rs397507578
|
|
NM_000059.4(BRCA2):c.1335_1338del (p.Leu446fs)
|
rs397507580
|
|
NM_000059.4(BRCA2):c.133G>T (p.Glu45Ter)
|
rs397507581
|
|
NM_000059.4(BRCA2):c.1389del (p.Val464fs)
|
rs397507584
|
|
NM_000059.4(BRCA2):c.1392_1393insT (p.Val465fs)
|
rs397507585
|
|
NM_000059.4(BRCA2):c.1423G>T (p.Glu475Ter)
|
rs397507587
|
|
NM_000059.4(BRCA2):c.1449_1451delinsTTAC (p.Val484fs)
|
rs397507589
|
|
NM_000059.4(BRCA2):c.1496A>G (p.Gln499Arg)
|
rs397507590
|
|
NM_000059.4(BRCA2):c.158A>G (p.Lys53Arg)
|
rs397507595
|
|
NM_000059.4(BRCA2):c.1596_1597del (p.Glu532fs)
|
rs80359292
|
|
NM_000059.4(BRCA2):c.1612_1613del (p.Ser538fs)
|
rs397507597
|
|
NM_000059.4(BRCA2):c.1636del (p.Cys546fs)
|
rs397507598
|
|
NM_000059.4(BRCA2):c.1646_1649del (p.Lys549fs)
|
rs397507599
|
|
NM_000059.4(BRCA2):c.172G>T (p.Glu58Ter)
|
rs397507603
|
|
NM_000059.4(BRCA2):c.1813_1814insC (p.Ile605fs)
|
rs80359308
|
|
NM_000059.4(BRCA2):c.1851dup (p.Ala618fs)
|
rs397507610
|
|
NM_000059.4(BRCA2):c.1855dup (p.Gln619fs)
|
rs397507611
|
|
NM_000059.4(BRCA2):c.1881del (p.Pro628fs)
|
rs397507612
|
|
NM_000059.4(BRCA2):c.1901del (p.Ala634fs)
|
rs397507614
|
|
NM_000059.4(BRCA2):c.226T>C (p.Ser76Pro)
|
rs397507622
|
|
NM_000059.4(BRCA2):c.2372C>A (p.Ser791Ter)
|
rs397507624
|
|
NM_000059.4(BRCA2):c.241T>C (p.Phe81Leu)
|
rs80358507
|
|
NM_000059.4(BRCA2):c.246dup (p.Glu83fs)
|
rs397507630
|
|
NM_000059.4(BRCA2):c.2596_2599del (p.Glu866fs)
|
rs397507633
|
|
NM_000059.4(BRCA2):c.2612delinsTTT (p.Ser871fs)
|
rs397507635
|
|
NM_000059.4(BRCA2):c.2637_2638del (p.Glu880fs)
|
rs397507636
|
|
NM_000059.4(BRCA2):c.2684del (p.Ala895fs)
|
rs80359342
|
|
NM_000059.4(BRCA2):c.2773dup (p.Ser925fs)
|
rs397507640
|
|
NM_000059.4(BRCA2):c.2774_2775del (p.Ser925fs)
|
rs397507641
|
|
NM_000059.4(BRCA2):c.2828_2831del (p.Ile943fs)
|
rs397507643
|
|
NM_000059.4(BRCA2):c.2950G>T (p.Glu984Ter)
|
rs397507648
|
|
NM_000059.4(BRCA2):c.2990T>A (p.Leu997Ter)
|
rs397507649
|
|
NM_000059.4(BRCA2):c.3014_3015dup (p.Gly1006fs)
|
rs397507650
|
|
NM_000059.4(BRCA2):c.316+4del
|
rs397507656
|
|
NM_000059.4(BRCA2):c.316+5G>C
|
rs81002840
|
|
NM_000059.4(BRCA2):c.3235del (p.Ser1079fs)
|
rs397507660
|
|
NM_000059.4(BRCA2):c.3296C>G (p.Ser1099Ter)
|
rs397507663
|
|
NM_000059.4(BRCA2):c.3366_3367del (p.Gln1124fs)
|
rs397507665
|
|
NM_000059.4(BRCA2):c.3449_3450insAG (p.Ile1151fs)
|
rs1555283246
|
|
NM_000059.4(BRCA2):c.3531_3534del (p.Asp1177fs)
|
rs397507673
|
|
NM_000059.4(BRCA2):c.3536G>A (p.Ser1179Asn)
|
rs397507674
|
|
NM_000059.4(BRCA2):c.3556_3565del (p.Val1186fs)
|
rs397507676
|
|
NM_000059.4(BRCA2):c.364del (p.Thr122fs)
|
rs397507680
|
|
NM_000059.4(BRCA2):c.3773_3774del (p.Ile1258fs)
|
rs397507685
|
|
NM_000059.4(BRCA2):c.3830del (p.Asn1277fs)
|
rs397507689
|
|
NM_000059.4(BRCA2):c.3863dup (p.Asn1288fs)
|
rs397507693
|
|
NM_000059.4(BRCA2):c.3895_3897del (p.Glu1299del)
|
rs397507696
|
|
NM_000059.4(BRCA2):c.3929del (p.Thr1310fs)
|
rs397507699
|
|
NM_000059.4(BRCA2):c.4097_4098insCATC (p.Lys1367fs)
|
rs397507704
|
|
NM_000059.4(BRCA2):c.4101dup (p.Leu1368fs)
|
rs397507705
|
|
NM_000059.4(BRCA2):c.4136dup (p.Ile1380fs)
|
rs397507708
|
|
NM_000059.4(BRCA2):c.4536_4539dup (p.Glu1514Ter)
|
rs397507724
|
|
NM_000059.4(BRCA2):c.4544del (p.Lys1515fs)
|
rs397507725
|
|
NM_000059.4(BRCA2):c.4566G>T (p.Leu1522Phe)
|
rs397507729
|
|
NM_000059.4(BRCA2):c.4593del (p.Val1532fs)
|
rs397507731
|
|
NM_000059.4(BRCA2):c.464_468del (p.Arg155fs)
|
rs397507735
|
|
NM_000059.4(BRCA2):c.466_467insT (p.Asp156fs)
|
rs397507736
|
|
NM_000059.4(BRCA2):c.4684C>T (p.Gln1562Ter)
|
rs397507737
|
|
NM_000059.4(BRCA2):c.4695_4698dup (p.Leu1567fs)
|
rs397507738
|
|
NM_000059.4(BRCA2):c.4731dup (p.Leu1578fs)
|
rs397507740
|
|
NM_000059.4(BRCA2):c.483T>G (p.Cys161Trp)
|
rs397507745
|
|
NM_000059.4(BRCA2):c.4848_4849del (p.Leu1616_Ser1617insTer)
|
rs397507746
|
|
NM_000059.4(BRCA2):c.488_489del (p.Ser163fs)
|
rs397507747
|
|
NM_000059.4(BRCA2):c.4917del (p.His1640fs)
|
rs397507749
|
|
NM_000059.4(BRCA2):c.4926_4935del (p.Asn1642fs)
|
rs397507750
|
|
NM_000059.4(BRCA2):c.4999dup (p.Ser1667fs)
|
rs397507754
|
|
NM_000059.4(BRCA2):c.5045del (p.Ser1682fs)
|
rs397507756
|
|
NM_000059.4(BRCA2):c.5115_5119del (p.Asn1706fs)
|
rs397507759
|
|
NM_000059.4(BRCA2):c.5131del (p.Tyr1710_Val1711insTer)
|
rs397507760
|
|
NM_000059.4(BRCA2):c.516+1dup
|
rs397507763
|
|
NM_000059.4(BRCA2):c.5164_5168dup (p.Ile1724fs)
|
rs397507765
|
|
NM_000059.4(BRCA2):c.5171del (p.Ile1724fs)
|
rs397507767
|
|
NM_000059.4(BRCA2):c.5250del (p.Tyr1751fs)
|
rs397507776
|
|
NM_000059.4(BRCA2):c.5291C>G (p.Ser1764Ter)
|
rs397507778
|
|
NM_000059.4(BRCA2):c.5389_5390del (p.Ala1797fs)
|
rs397507783
|
|
NM_000059.4(BRCA2):c.5433_5436del (p.Glu1811fs)
|
rs397507784
|
|
NM_000059.4(BRCA2):c.5580_5584del (p.Lys1860fs)
|
rs397507789
|
|
NM_000059.4(BRCA2):c.5650_5659del (p.Ile1884fs)
|
rs397507794
|
|
NM_000059.4(BRCA2):c.5683G>C (p.Glu1895Gln)
|
rs146351301
|
|
NM_000059.4(BRCA2):c.572A>G (p.Asp191Gly)
|
rs397507798
|
|
NM_000059.4(BRCA2):c.5774_5777del (p.Gln1925fs)
|
rs397507804
|
|
NM_000059.4(BRCA2):c.5799_5800del (p.Asn1933fs)
|
rs397507807
|
|
NM_000059.4(BRCA2):c.5829_5830del (p.Lys1944fs)
|
rs397507808
|
|
NM_000059.4(BRCA2):c.5835_5843dup (p.Cys1948Ter)
|
rs397507809
|
|
NM_000059.4(BRCA2):c.5851_5854dup (p.Leu1952Ter)
|
rs80359543
|
|
NM_000059.4(BRCA2):c.5944del (p.Ser1982fs)
|
rs796460349
|
|
NM_000059.4(BRCA2):c.5946_5950del (p.Ser1982fs)
|
rs397507813
|
|
NM_000059.4(BRCA2):c.595_599dup (p.Pro201fs)
|
rs397507816
|
|
NM_000059.4(BRCA2):c.5964_5965del (p.Ser1989fs)
|
rs397507817
|
|
NM_000059.4(BRCA2):c.6018T>A (p.Ser2006Arg)
|
rs397507821
|
|
NM_000059.4(BRCA2):c.602C>G (p.Pro201Arg)
|
rs397507822
|
|
NM_000059.4(BRCA2):c.6060_6063del (p.Glu2020fs)
|
rs397507825
|
|
NM_000059.4(BRCA2):c.617C>G (p.Ser206Cys)
|
rs397507832
|
|
NM_000059.4(BRCA2):c.6206del (p.Ile2068_Leu2069insTer)
|
rs397507834
|
|
NM_000059.4(BRCA2):c.6276del (p.His2093fs)
|
rs397507837
|
|
NM_000059.4(BRCA2):c.631+2T>C
|
rs81002899
|
|
NM_000059.4(BRCA2):c.632T>C (p.Val211Ala)
|
rs397507843
|
|
NM_000059.4(BRCA2):c.6384A>C (p.Lys2128Asn)
|
rs397507847
|
|
NM_000059.4(BRCA2):c.6390dup (p.Lys2131Ter)
|
rs397507848
|
|
NM_000059.4(BRCA2):c.6406_6407del (p.Leu2136fs)
|
rs397507850
|
|
NM_000059.4(BRCA2):c.6428del (p.Ser2142_Ser2143insTer)
|
rs397507854
|
|
NM_000059.4(BRCA2):c.6437_6440del (p.Asn2146fs)
|
rs397507855
|
|
NM_000059.4(BRCA2):c.6447_6448del (p.Lys2150fs)
|
rs397507857
|
|
NM_000059.4(BRCA2):c.6491_6495del (p.Gln2164fs)
|
rs397507863
|
|
NM_000059.4(BRCA2):c.6527del (p.Asn2176fs)
|
rs397507864
|
|
NM_000059.4(BRCA2):c.6589del (p.Thr2197fs)
|
rs397507868
|
|
NM_000059.4(BRCA2):c.6635_6636del (p.Cys2212fs)
|
rs397507872
|
|
NM_000059.4(BRCA2):c.664C>T (p.Pro222Ser)
|
rs397507873
|
|
NM_000059.4(BRCA2):c.6652dup (p.Asp2218fs)
|
rs397507874
|
|
NM_000059.4(BRCA2):c.6684del (p.Glu2229fs)
|
rs397507876
|
|
NM_000059.4(BRCA2):c.671A>T (p.Asp224Val)
|
rs397507878
|
|
NM_000059.4(BRCA2):c.68-9T>G
|
rs397507883
|
|
NM_000059.4(BRCA2):c.6800C>A (p.Ser2267Ter)
|
rs377698594
|
|
NM_000059.4(BRCA2):c.6841+80_6841+83del
|
rs11571661
|
|
NM_000059.4(BRCA2):c.6996del (p.Cys2332fs)
|
rs397507889
|
|
NM_000059.4(BRCA2):c.7067_7068del (p.Phe2356fs)
|
rs397507894
|
|
NM_000059.4(BRCA2):c.7082_7100dup (p.Thr2367_Leu2368insPheValTer)
|
rs397507895
|
|
NM_000059.4(BRCA2):c.7166del (p.Arg2389fs)
|
rs397507898
|
|
NM_000059.4(BRCA2):c.7187dup (p.Leu2396fs)
|
rs397507901
|
|
NM_000059.4(BRCA2):c.71T>A (p.Leu24Ter)
|
rs397507902
|
|
NM_000059.4(BRCA2):c.7210_7216delinsTG (p.Lys2404fs)
|
rs397507904
|
|
NM_000059.4(BRCA2):c.7224_7227del (p.Pro2409fs)
|
rs397507905
|
|
NM_000059.4(BRCA2):c.7366C>G (p.Gln2456Glu)
|
rs397507912
|
|
NM_000059.4(BRCA2):c.7525_7526insT (p.Ser2509fs)
|
rs1555286270
|
|
NM_000059.4(BRCA2):c.7618-1G>C
|
rs397507389
|
|
NM_000059.4(BRCA2):c.7618-27T>A
|
rs397507925
|
|
NM_000059.4(BRCA2):c.7636_7645del (p.Ser2546fs)
|
rs397507927
|
|
NM_000059.4(BRCA2):c.7675_7676insAAAC (p.Ser2559Ter)
|
rs397507929
|
|
NM_000059.4(BRCA2):c.7680del (p.Gln2561fs)
|
rs80359673
|
|
NM_000059.4(BRCA2):c.775A>T (p.Arg259Ter)
|
rs397507937
|
|
NM_000059.4(BRCA2):c.7963del (p.Gln2655fs)
|
rs397507945
|
|
NM_000059.4(BRCA2):c.8056C>T (p.Leu2686Phe)
|
rs397507960
|
|
NM_000059.4(BRCA2):c.8162T>G (p.Leu2721Arg)
|
rs80359061
|
|
NM_000059.4(BRCA2):c.8175G>A (p.Trp2725Ter)
|
rs397507965
|
|
NM_000059.4(BRCA2):c.8191C>T (p.Gln2731Ter)
|
rs397507966
|
|
NM_000059.4(BRCA2):c.8228_8229insA (p.Arg2744fs)
|
rs397507970
|
|
NM_000059.4(BRCA2):c.8255TTC[1] (p.Leu2753del)
|
rs397507971
|
|
NM_000059.4(BRCA2):c.8317_8330del (p.Ser2773fs)
|
rs397507976
|
|
NM_000059.4(BRCA2):c.8331_8332del (p.Lys2777fs)
|
rs397507978
|
|
NM_000059.4(BRCA2):c.8332-1G>C
|
rs397507979
|
|
NM_000059.4(BRCA2):c.8348dup (p.Arg2784fs)
|
rs397507980
|
|
NM_000059.4(BRCA2):c.8396G>C (p.Arg2799Thr)
|
rs397507982
|
|
NM_000059.4(BRCA2):c.8415_8416del (p.Leu2805fs)
|
rs397507402
|
|
NM_000059.4(BRCA2):c.8415dup (p.Ser2806fs)
|
rs397507985
|
|
NM_000059.4(BRCA2):c.8434GGA[1] (p.Gly2813del)
|
rs397507986
|
|
NM_000059.4(BRCA2):c.8528del (p.Asn2843fs)
|
rs397507989
|
|
NM_000059.4(BRCA2):c.8532_8533del (p.Glu2846fs)
|
rs397507990
|
|
NM_000059.4(BRCA2):c.8601dup (p.Lys2868Ter)
|
rs397507995
|
|
NM_000059.4(BRCA2):c.8632+2T>G
|
rs397507998
|
|
NM_000059.4(BRCA2):c.8642_8643insTT (p.Thr2881_Lys2882insTer)
|
rs397507999
|
|
NM_000059.4(BRCA2):c.8644A>T (p.Lys2882Ter)
|
rs397508000
|
|
NM_000059.4(BRCA2):c.8646_8649del (p.Lys2882fs)
|
rs397508001
|
|
NM_000059.4(BRCA2):c.8672C>G (p.Thr2891Arg)
|
rs1401510742
|
|
NM_000059.4(BRCA2):c.8680C>T (p.Gln2894Ter)
|
rs397508002
|
|
NM_000059.4(BRCA2):c.8754+11A>C
|
rs397508005
|
|
NM_000059.4(BRCA2):c.8817_8820del (p.Lys2939fs)
|
rs397508010
|
|
NM_000059.4(BRCA2):c.8820_8823del (p.Gln2941fs)
|
rs397508011
|
|
NM_000059.4(BRCA2):c.8890dup (p.Arg2964fs)
|
rs397508017
|
|
NM_000059.4(BRCA2):c.8912dup (p.Leu2972fs)
|
rs80359731
|
|
NM_000059.4(BRCA2):c.8950del (p.Ser2984fs)
|
rs397508022
|
|
NM_000059.4(BRCA2):c.8953+5G>T
|
rs397508023
|
|
NM_000059.4(BRCA2):c.8956dup (p.Ile2986fs)
|
rs397508024
|
|
NM_000059.4(BRCA2):c.9007G>T (p.Gly3003Ter)
|
rs397508029
|
|
NM_000059.4(BRCA2):c.9018_9019insTCTA (p.Arg3007fs)
|
rs397508030
|
|
NM_000059.4(BRCA2):c.9094_9097del (p.Lys3032fs)
|
rs397507419
|
|
NM_000059.4(BRCA2):c.9100dup (p.Gln3034fs)
|
rs397508036
|
|
NM_000059.4(BRCA2):c.9117+2T>A
|
rs397508038
|
|
NM_000059.4(BRCA2):c.9262dup (p.Ala3088fs)
|
rs397508042
|
|
NM_000059.4(BRCA2):c.9291T>A (p.Cys3097Ter)
|
rs397508044
|
|
NM_000059.4(BRCA2):c.9324_9325insATTA (p.Leu3109fs)
|
rs397508046
|
|
NM_000059.4(BRCA2):c.9356_9357delinsG (p.Met3118_Leu3119insTer)
|
rs397508048
|
|
NM_000059.4(BRCA2):c.9498dup (p.Glu3167Ter)
|
rs397508055
|
|
NM_000059.4(BRCA2):c.9502-28A>G
|
rs397508059
|
|
NM_000059.4(BRCA2):c.9705_9706insG (p.Lys3236fs)
|
rs397508064
|
|
NM_000059.4(BRCA2):c.993_994dup (p.Ile332fs)
|
rs80359777
|
|
NM_000142.5(FGFR3):c.1908C>G (p.Phe636Leu)
|
rs104886005
|
|
NM_000142.5(FGFR3):c.2129G>T (p.Gly710Val)
|
rs104886023
|
|
NM_000142.5(FGFR3):c.2135G>A (p.Arg712His)
|
rs104886024
|
|
NM_000179.3(MSH6):c.*24_*28del
|
rs587779200
|
|
NM_000179.3(MSH6):c.1190_1191del (p.Tyr397fs)
|
rs63750439
|
|
NM_000179.3(MSH6):c.1480G>T (p.Ala494Ser)
|
rs758699749
|
|
NM_000179.3(MSH6):c.1614_1615delinsAG (p.Tyr538_Leu539delinsTer)
|
rs267608049
|
|
NM_000179.3(MSH6):c.1645del (p.Ser549fs)
|
rs876661033
|
|
NM_000179.3(MSH6):c.2075A>G (p.Lys692Arg)
|
rs975991506
|
|
NM_000179.3(MSH6):c.2230dup (p.Glu744fs)
|
rs786201050
|
|
NM_000179.3(MSH6):c.2931C>G (p.Tyr977Ter)
|
rs63750111
|
|
NM_000179.3(MSH6):c.2983G>T (p.Glu995Ter)
|
rs63750258
|
|
NM_000179.3(MSH6):c.322T>C (p.Cys108Arg)
|
rs1668689651
|
|
NM_000179.3(MSH6):c.3261del (p.Phe1088fs)
|
rs267608078
|
|
NM_000179.3(MSH6):c.3439-1G>T
|
rs587779263
|
|
NM_000179.3(MSH6):c.3450A>C (p.Leu1150Phe)
|
rs762134820
|
|
NM_000179.3(MSH6):c.3768T>G (p.Tyr1256Ter)
|
rs63751058
|
|
NM_000179.3(MSH6):c.3848_3850dup (p.Ile1283dup)
|
rs1553333420
|
|
NM_000179.3(MSH6):c.3959_3962del (p.Ala1320fs)
|
rs267608120
|
|
NM_000179.3(MSH6):c.3984_3987dup (p.Leu1330fs)
|
rs267608121
|
|
NM_000222.3(KIT):c.1727T>C (p.Leu576Pro)
|
rs121913513
|
|
NM_000245.4(MET):c.1357G>A (p.Ala453Thr)
|
rs1793019219
|
|
NM_000245.4(MET):c.2432T>A (p.Leu811Gln)
|
rs1554396554
|
|
NM_000249.4(MLH1):c.1039-2329_1409+827del
|
|
|
NM_000249.4(MLH1):c.112A>C (p.Asn38His)
|
rs63750580
|
|
NM_000249.4(MLH1):c.1381A>T (p.Lys461Ter)
|
rs63750540
|
|
NM_000249.4(MLH1):c.1489dup (p.Arg497fs)
|
rs63750855
|
|
NM_000249.4(MLH1):c.1558+1G>T
|
rs267607832
|
|
NM_000249.4(MLH1):c.1667+2_1667+8delinsATTT
|
rs587778938
|
|
NM_000249.4(MLH1):c.1731+2247_1897-402del
|
|
|
NM_000249.4(MLH1):c.1731G>A (p.Ser577=)
|
rs63751657
|
|
NM_000249.4(MLH1):c.1758dup (p.Met587fs)
|
rs63749863
|
|
NM_000249.4(MLH1):c.1774A>G (p.Ser592Gly)
|
rs2125984638
|
|
NM_000249.4(MLH1):c.1823C>T (p.Ala608Val)
|
rs267607864
|
|
NM_000249.4(MLH1):c.1831_1832del (p.Ile611fs)
|
rs63750150
|
|
NM_000249.4(MLH1):c.1865T>A (p.Leu622His)
|
rs63750693
|
|
NM_000249.4(MLH1):c.2044_2045del (p.Met682fs)
|
rs878853785
|
|
NM_000249.4(MLH1):c.2142G>A (p.Trp714Ter)
|
rs63750978
|
|
NM_000249.4(MLH1):c.2195_2198dup (p.His733fs)
|
rs267607903
|
|
NM_000249.4(MLH1):c.2252_2253del (p.Lys751fs)
|
rs267607901
|
|
NM_000249.4(MLH1):c.2269dup (p.Ter757LeuextTer?)
|
rs1553666143
|
|
NM_000249.4(MLH1):c.306+5G>A
|
rs267607735
|
|
NM_000249.4(MLH1):c.392C>G (p.Ser131Ter)
|
rs63749818
|
|
NM_000249.4(MLH1):c.454-1G>A
|
rs193922370
|
|
NM_000249.4(MLH1):c.466T>C (p.Phe156Leu)
|
rs1060500691
|
|
NM_000249.4(MLH1):c.545+3A>G
|
rs267607760
|
|
NM_000249.4(MLH1):c.589-2A>G
|
rs267607767
|
|
NM_000249.4(MLH1):c.649C>A (p.Arg217Ser)
|
rs4986984
|
|
NM_000249.4(MLH1):c.670G>A (p.Val224Ile)
|
rs1553644251
|
|
NM_000249.4(MLH1):c.731G>A (p.Gly244Asp)
|
rs63750303
|
|
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys)
|
rs63751194
|
|
NM_000251.1(MSH2):c.-823_1076+5984del
|
|
|
NM_000251.3(MSH2):c.1165C>T (p.Arg389Ter)
|
rs587779075
|
|
NM_000251.3(MSH2):c.1216C>G (p.Arg406Gly)
|
rs63751108
|
|
NM_000251.3(MSH2):c.1277-1180_1386+2226delinsCATTCTCTTTGAAAA
|
|
|
NM_000251.3(MSH2):c.1387-9T>A
|
rs587779087
|
|
NM_000251.3(MSH2):c.1457_1460del (p.Asn486fs)
|
rs1114167806
|
|
NM_000251.3(MSH2):c.1786_1788del (p.Asn596del)
|
rs63749831
|
|
NM_000251.3(MSH2):c.181C>T (p.Gln61Ter)
|
rs63750951
|
|
NM_000251.3(MSH2):c.2063T>G (p.Met688Arg)
|
rs63749993
|
|
NM_000251.3(MSH2):c.2152C>T (p.Gln718Ter)
|
rs587779139
|
|
NM_000251.3(MSH2):c.2185_2192delinsCCCT (p.Met729fs)
|
rs2104378383
|
|
NM_000251.3(MSH2):c.388_389del (p.Gln130fs)
|
rs63750704
|
|
NM_000251.3(MSH2):c.655dup (p.Arg219fs)
|
rs1558461615
|
|
NM_000251.3(MSH2):c.743A>G (p.Lys248Arg)
|
rs1064794704
|
|
NM_000251.3(MSH2):c.998G>A (p.Cys333Tyr)
|
rs63750828
|
|
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter)
|
rs121909219
|
|
NM_000368.5(TSC1):c.1041G>A (p.Trp347Ter)
|
rs118203491
|
|
NM_000368.5(TSC1):c.132dup (p.Val46fs)
|
rs118203337
|
|
NM_000368.5(TSC1):c.1354G>C (p.Gly452Arg)
|
rs118203519
|
|
NM_000368.5(TSC1):c.1525C>T (p.Arg509Ter)
|
rs118203542
|
|
NM_000368.5(TSC1):c.1579C>T (p.Gln527Ter)
|
rs118203549
|
|
NM_000368.5(TSC1):c.163C>T (p.Gln55Ter)
|
rs118203343
|
|
NM_000368.5(TSC1):c.1669del (p.Leu557fs)
|
rs118203556
|
|
NM_000368.5(TSC1):c.1727_1748delinsG (p.Leu576_Pro583delinsCys)
|
rs118203569
|
|
NM_000368.5(TSC1):c.1907_1908del (p.Glu636fs)
|
rs118203599
|
|
NM_000368.5(TSC1):c.1958_1959del (p.Ile653fs)
|
rs118203602
|
|
NM_000368.5(TSC1):c.1997+67AG[2]
|
rs118203612
|
|
NM_000368.5(TSC1):c.2074C>T (p.Arg692Ter)
|
rs118203631
|
|
NM_000368.5(TSC1):c.2080C>T (p.Gln694Ter)
|
rs397514789
|
|
NM_000368.5(TSC1):c.245A>C (p.Lys82Thr)
|
rs118203356
|
|
NM_000368.5(TSC1):c.2625+1G>A
|
rs118203715
|
|
NM_000368.5(TSC1):c.2626-4T[17_21]
|
|
|
NM_000368.5(TSC1):c.3030G>T (p.Glu1010Asp)
|
rs118203741
|
|
NM_000368.5(TSC1):c.473T>G (p.Phe158Cys)
|
rs118203385
|
|
NM_000368.5(TSC1):c.489A>T (p.Ser163=)
|
rs118203386
|
|
NM_000368.5(TSC1):c.524dup (p.Tyr176fs)
|
rs118203393
|
|
NM_000368.5(TSC1):c.569del (p.Arg190fs)
|
rs118203401
|
|
NM_000368.5(TSC1):c.658G>T (p.Val220Phe)
|
rs397514830
|
|
NM_000368.5(TSC1):c.663+1G>A
|
rs118203419
|
|
NM_000368.5(TSC1):c.664-1G>A
|
rs118203423
|
|
NM_000465.4(BARD1):c.1887G>A (p.Trp629Ter)
|
rs878854003
|
|
NM_000465.4(BARD1):c.1935_1954dup (p.Glu652fs)
|
rs587780024
|
|
NM_000465.4(BARD1):c.273G>A (p.Trp91Ter)
|
rs2106135008
|
|
NM_000465.4(BARD1):c.673G>T (p.Glu225Ter)
|
rs1064793049
|
|
NM_000535.7(PMS2):c.1238_1239delinsGG (p.Lys413Arg)
|
rs587780041
|
|
NM_000535.7(PMS2):c.1831dup (p.Ile611fs)
|
rs63750250
|
|
NM_000535.7(PMS2):c.2002A>G (p.Ile668Val)
|
rs869320619
|
|
NM_000535.7(PMS2):c.2192_2196del (p.Leu731fs)
|
rs63750695
|
|
NM_000535.7(PMS2):c.251-2A>C
|
rs587779340
|
|
NM_000535.7(PMS2):c.662C>T (p.Pro221Leu)
|
rs878854056
|
|
NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer)
|
rs267608150
|
|
NM_000535.7(PMS2):c.903G>T (p.Lys301Asn)
|
rs267608153
|
|
NM_000535.7(PMS2):c.989-1G>T
|
rs587780064
|
|
NM_000535.7(PMS2):c.989-296_1144+706del
|
|
|
NM_000546.6(TP53):c.386C>T (p.Ala129Val)
|
rs137852792
|
|
NM_000546.6(TP53):c.414del (p.Lys139fs)
|
rs137852794
|
|
NM_000546.6(TP53):c.448_459del (p.Thr150_Pro153del)
|
rs137852790
|
|
NM_000546.6(TP53):c.450_459del (p.Pro151fs)
|
rs137852791
|
|
NM_000546.6(TP53):c.666G>T (p.Pro222=)
|
rs72661118
|
|
NM_000546.6(TP53):c.886C>T (p.His296Tyr)
|
rs672601296
|
|
NM_001002295.1:c.1482-5C>T
|
|
|
NM_001348946.2(ABCB1):c.2677T>A (p.Ser893Thr)
|
rs2032582
|
|
NM_001407648.1(BRCA1):c.548-2429del
|
rs397509289
|
|
NM_001654.5(ARAF):c.641C>G (p.Ser214Cys)
|
rs1057519786
|
|
NM_001987.5(ETV6):c.641C>T (p.Pro214Leu)
|
rs724159947
|
|
NM_002019.4(FLT1):c.2654_2655insA (p.Gly886fs)
|
rs555490448
|
|
NM_002019.4(FLT1):c.2708-29A>C
|
rs558381447
|
|
NM_002019.4(FLT1):c.2708-39G>C
|
rs537105078
|
|
NM_002019.4(FLT1):c.2871A>T (p.Leu957=)
|
rs148695719
|
|
NM_002019.4(FLT1):c.3042_3043insA (p.Ser1015fs)
|
rs573848371
|
|
NM_002019.4(FLT1):c.3175-69A>T
|
rs576912997
|
|
NM_002019.4(FLT1):c.3204T>C (p.Pro1068=)
|
rs2296189
|
|
NM_002019.4(FLT1):c.3287-16A>C
|
rs537403174
|
|
NM_002019.4(FLT1):c.3329G>C (p.Cys1110Ser)
|
rs730882263
|
|
NM_002354.2(EPCAM):c.859-1430_*2033del
|
|
|
NM_002354.3(EPCAM):c.-1C>G
|
rs533255660
|
|
NM_002439.5(MSH3):c.1914CTT[1] (p.Phe639del)
|
rs758193305
|
|
NM_002485.5(NBN):c.657_661del (p.Lys219fs)
|
rs587776650
|
|
NM_002485.5(NBN):c.93_94del (p.Ala32fs)
|
rs864622253
|
|
NM_002907.4(RECQL):c.623A>G (p.Tyr208Cys)
|
rs2137374083
|
|
NM_003072.5(SMARCA4):c.4781A>G (p.Lys1594Arg)
|
rs1555796197
|
|
NM_004168.4(SDHA):c.1012del (p.Ala338fs)
|
rs1295239305
|
|
NM_004168.4(SDHA):c.245_252del (p.Glu82fs)
|
rs1734890180
|
|
NM_004168.4(SDHA):c.456+3_456+4delinsCT
|
rs1734966566
|
|
NM_004304.5(ALK):c.3455T>G (p.Leu1152Arg)
|
rs1057519785
|
|
NM_004304.5(ALK):c.3467G>A (p.Cys1156Tyr)
|
rs1057519859
|
|
NM_004304.5(ALK):c.3522C>A (p.Phe1174Leu)
|
rs863225281
|
|
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.3806G>C (p.Gly1269Ala)
|
rs1057519781
|
|
NM_004327.4(BCR):c.2707+21G>T
|
rs527236142
|
|
NM_004327.4(BCR):c.2750T>A (p.Val917Asp)
|
rs527236143
|
|
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu)
|
rs113488022
|
|
NM_004333.6(BRAF):c.1807C>T (p.Arg603Ter)
|
rs104886015
|
|
NM_004360.5(CDH1):c.1009_1010del (p.Ser337Phefs)
|
rs786201045
|
|
NM_004360.5(CDH1):c.1015C>G (p.Pro339Ala)
|
rs1555515709
|
|
NM_004360.5(CDH1):c.1137G>A (p.Thr379=)
|
rs587783050
|
|
NM_004360.5(CDH1):c.1202C>T (p.Ala401Val)
|
rs150795245
|
|
NM_004360.5(CDH1):c.1454T>C (p.Ile485Thr)
|
rs587783049
|
|
NM_004360.5(CDH1):c.1488_1494del (p.Glu497fs)
|
rs876658261
|
|
NM_004360.5(CDH1):c.1565+1G>A
|
rs587780113
|
|
NM_004360.5(CDH1):c.1942G>T (p.Glu648Ter)
|
rs971882211
|
|
NM_004360.5(CDH1):c.2064_2065del (p.Cys688_Glu689delinsTer)
|
rs587781276
|
|
NM_004360.5(CDH1):c.504del (p.Gly169fs)
|
rs864622655
|
|
NM_004364.5(CEBPA):c.141del (p.Ala48fs)
|
rs137852730
|
|
NM_004364.5(CEBPA):c.147_165del (p.Glu50fs)
|
rs2145264004
|
|
NM_004364.5(CEBPA):c.157G>A (p.Gly53Ser)
|
rs1967196253
|
|
NM_004364.5(CEBPA):c.158del (p.Gly53fs)
|
rs2145264074
|
|
NM_004364.5(CEBPA):c.189del (p.Asp63fs)
|
rs2145263853
|
|
NM_004364.5(CEBPA):c.314_315insT (p.Phe106fs)
|
rs2145263088
|
|
NM_004364.5(CEBPA):c.442G>T (p.Glu148Ter)
|
rs1388478228
|
|
NM_004364.5(CEBPA):c.68del (p.Pro23fs)
|
rs137852728
|
|
NM_004364.5(CEBPA):c.68dup (p.His24fs)
|
rs137852728
|
|
NM_004364.5(CEBPA):c.932A>C (p.Gln311Pro)
|
rs2145258913
|
|
NM_004448.4(ERBB2):c.2494-3C>T
|
rs104886007
|
|
NM_004448.4(ERBB2):c.2506C>T (p.Leu836=)
|
rs104886008
|
|
NM_004448.4(ERBB2):c.2520G>A (p.Arg840=)
|
rs104886011
|
|
NM_004448.4(ERBB2):c.2535C>T (p.Asp845=)
|
rs137852788
|
|
NM_004448.4(ERBB2):c.2568C>T (p.Pro856=)
|
rs104886009
|
|
NM_004448.4(ERBB2):c.2605C>T (p.Leu869=)
|
rs104886010
|
|
NM_004448.4(ERBB2):c.3146G>A (p.Ser1049Asn)
|
rs104886025
|
|
NM_004985.5(KRAS):c.34G>T (p.Gly12Cys)
|
rs121913530
|
|
NM_004985.5(KRAS):c.35G>C (p.Gly12Ala)
|
rs121913529
|
|
NM_004985.5(KRAS):c.40G>A (p.Val14Ile)
|
rs104894365
|
|
NM_005157.6(ABL1):c.949T>C (p.Phe317Leu)
|
rs1057519773
|
|
NM_005228.5(EGFR):c.2236G>C (p.Glu746Gln)
|
rs121913427
|
|
NM_005228.5(EGFR):c.2265C>G (p.Ala755=)
|
rs727503017
|
|
NM_005228.5(EGFR):c.2389T>A (p.Cys797Ser)
|
rs1057519861
|
|
NM_005228.5(EGFR):c.2625+8G>A
|
rs104886014
|
|
NM_005228.5(EGFR):c.2866G>A (p.Asp956Asn)
|
rs104886026
|
|
NM_006182.4(DDR2):c.1912A>T (p.Ile638Phe)
|
rs1057519789
|
|
NM_006182.4(DDR2):c.2304T>A (p.Ser768Arg)
|
rs267598140
|
|
NM_006182.4(DDR2):c.2321G>T (p.Gly774Val)
|
rs1057519790
|
|
NM_006182.4(DDR2):c.757G>T (p.Gly253Cys)
|
rs376303676
|
|
NM_006218.2:c.1821+51A>T
|
|
|
NM_006218.4(PIK3CA):c.1375_1386del (p.Ile459_Thr462del)
|
rs2108400738
|
|
NM_006218.4(PIK3CA):c.1412C>T (p.Pro471Leu)
|
rs1057519872
|
|
NM_006218.4(PIK3CA):c.1540-56C>T
|
rs104886002
|
|
NM_006218.4(PIK3CA):c.1571G>A (p.Arg524Lys)
|
rs104885999
|
|
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys)
|
rs104886003
|
|
NM_006218.4(PIK3CA):c.1664+18G>A
|
rs104886001
|
|
NM_006218.4(PIK3CA):c.1664G>A (p.Arg555Lys)
|
rs104886000
|
|
NM_006218.4(PIK3CA):c.1769G>A (p.Trp590Ter)
|
rs104886021
|
|
NM_007294.3(BRCA1):c.2995C>A (p.Leu999Ile)
|
rs80356848
|
|
NM_007294.4(BRCA1):c.1040del (p.Leu347fs)
|
rs397508828
|
|
NM_007294.4(BRCA1):c.1063A>T (p.Lys355Ter)
|
rs397508829
|
|
NM_007294.4(BRCA1):c.1076C>T (p.Pro359Leu)
|
rs397508831
|
|
NM_007294.4(BRCA1):c.1080_1081insA (p.Ser361fs)
|
rs397508832
|
|
NM_007294.4(BRCA1):c.1099dup (p.Thr367fs)
|
rs397508835
|
|
NM_007294.4(BRCA1):c.1100dup (p.Thr367_Glu368insTer)
|
rs397508836
|
|
NM_007294.4(BRCA1):c.1112del (p.Pro371fs)
|
rs397508837
|
|
NM_007294.4(BRCA1):c.1122_1123del (p.Leu375fs)
|
rs397508839
|
|
NM_007294.4(BRCA1):c.1158_1159del (p.Ser387fs)
|
rs397508842
|
|
NM_007294.4(BRCA1):c.1159dup (p.Ser387fs)
|
rs397508842
|
|
NM_007294.4(BRCA1):c.1175_1178del (p.Leu392fs)
|
rs397508844
|
|
NM_007294.4(BRCA1):c.1193C>A (p.Ser398Ter)
|
rs80357068
|
|
NM_007294.4(BRCA1):c.1217del (p.Asn406fs)
|
rs397508846
|
|
NM_007294.4(BRCA1):c.122del (p.His41fs)
|
rs397508847
|
|
NM_007294.4(BRCA1):c.1262A>G (p.Glu421Gly)
|
rs397508849
|
|
NM_007294.4(BRCA1):c.1265_1266dup (p.Ser423fs)
|
rs397508850
|
|
NM_007294.4(BRCA1):c.1279G>T (p.Glu427Ter)
|
rs397508851
|
|
NM_007294.4(BRCA1):c.1293_1295delinsGA (p.Leu432fs)
|
rs397508852
|
|
NM_007294.4(BRCA1):c.130T>C (p.Cys44Arg)
|
rs80357327
|
|
NM_007294.4(BRCA1):c.130T>G (p.Cys44Gly)
|
rs80357327
|
|
NM_007294.4(BRCA1):c.1319dup (p.Leu440fs)
|
rs80357683
|
|
NM_007294.4(BRCA1):c.1339dup (p.Val447fs)
|
rs397508855
|
|
NM_007294.4(BRCA1):c.135-6T>G
|
rs397508859
|
|
NM_007294.4(BRCA1):c.1363_1364insGA (p.Asn455fs)
|
rs397508860
|
|
NM_007294.4(BRCA1):c.1380del (p.Phe461fs)
|
rs397508863
|
|
NM_007294.4(BRCA1):c.1393T>G (p.Tyr465Asp)
|
rs397508869
|
|
NM_007294.4(BRCA1):c.1458T>A (p.Phe486Leu)
|
rs80357400
|
|
NM_007294.4(BRCA1):c.1499_1508dup (p.Lys503_Arg504insTer)
|
rs397508873
|
|
NM_007294.4(BRCA1):c.1504_1518del (p.Leu502_Arg506del)
|
rs397508875
|
|
NM_007294.4(BRCA1):c.1506_1510del (p.Leu502_Lys503insTer)
|
rs397508876
|
|
NM_007294.4(BRCA1):c.1517_1521del (p.Arg506fs)
|
rs397508879
|
|
NM_007294.4(BRCA1):c.1519A>T (p.Arg507Ter)
|
rs397508880
|
|
NM_007294.4(BRCA1):c.1544A>G (p.Glu515Gly)
|
rs397508881
|
|
NM_007294.4(BRCA1):c.1565_1566insC (p.Leu523fs)
|
rs397508884
|
|
NM_007294.4(BRCA1):c.1570del (p.Ala524fs)
|
rs397508886
|
|
NM_007294.4(BRCA1):c.1595_1601del (p.Ile532fs)
|
rs397508888
|
|
NM_007294.4(BRCA1):c.160del (p.Gln54fs)
|
rs397508890
|
|
NM_007294.4(BRCA1):c.1631A>C (p.Gln544Pro)
|
rs397508892
|
|
NM_007294.4(BRCA1):c.1655G>T (p.Gly552Val)
|
rs397508893
|
|
NM_007294.4(BRCA1):c.1660G>T (p.Glu554Ter)
|
rs397508894
|
|
NM_007294.4(BRCA1):c.1669A>G (p.Thr557Ala)
|
rs397508895
|
|
NM_007294.4(BRCA1):c.167A>G (p.Lys56Arg)
|
rs397508897
|
|
NM_007294.4(BRCA1):c.168A>T (p.Lys56Asn)
|
rs397508898
|
|
NM_007294.4(BRCA1):c.1690A>C (p.Asn564His)
|
rs397507191
|
|
NM_007294.4(BRCA1):c.1700del (p.Asn567fs)
|
rs80357784
|
|
NM_007294.4(BRCA1):c.1716dup (p.Ser573fs)
|
rs397508900
|
|
NM_007294.4(BRCA1):c.1741A>T (p.Lys581Ter)
|
rs397508905
|
|
NM_007294.4(BRCA1):c.1744A>G (p.Thr582Ala)
|
rs397508906
|
|
NM_007294.4(BRCA1):c.178_179del (p.Gln60fs)
|
rs397508907
|
|
NM_007294.4(BRCA1):c.1817del (p.Pro606fs)
|
rs397508910
|
|
NM_007294.4(BRCA1):c.1846dup (p.Ser616fs)
|
rs397508914
|
|
NM_007294.4(BRCA1):c.188T>C (p.Leu63Ser)
|
rs80357086
|
|
NM_007294.4(BRCA1):c.190_193del (p.Cys64fs)
|
rs397508917
|
|
NM_007294.4(BRCA1):c.1932T>G (p.Cys644Trp)
|
rs397508918
|
|
NM_007294.4(BRCA1):c.1960A>G (p.Lys654Glu)
|
rs80357355
|
|
NM_007294.4(BRCA1):c.1963dup (p.Tyr655fs)
|
rs397508924
|
|
NM_007294.4(BRCA1):c.1967A>G (p.Asn656Ser)
|
rs397508925
|
|
NM_007294.4(BRCA1):c.2012_2013dup (p.Lys672fs)
|
rs397508928
|
|
NM_007294.4(BRCA1):c.2021del (p.Pro674fs)
|
rs397508930
|
|
NM_007294.4(BRCA1):c.2028_2029del (p.Gly677fs)
|
rs397508931
|
|
NM_007294.4(BRCA1):c.2048del (p.Lys683fs)
|
rs397508933
|
|
NM_007294.4(BRCA1):c.2075_2076del (p.His692fs)
|
rs397508936
|
|
NM_007294.4(BRCA1):c.2086del (p.Thr696fs)
|
rs397508937
|
|
NM_007294.4(BRCA1):c.211dup (p.Arg71fs)
|
rs397508938
|
|
NM_007294.4(BRCA1):c.2166del (p.Asn723fs)
|
rs397508943
|
|
NM_007294.4(BRCA1):c.2174del (p.Ser725fs)
|
rs397508944
|
|
NM_007294.4(BRCA1):c.2196del (p.Glu733fs)
|
rs397508948
|
|
NM_007294.4(BRCA1):c.2211_2212del (p.Thr737_Val738insTer)
|
rs397508950
|
|
NM_007294.4(BRCA1):c.2216_2217del (p.Lys739fs)
|
rs80357802
|
|
NM_007294.4(BRCA1):c.2308del (p.Ser770fs)
|
rs397508956
|
|
NM_007294.4(BRCA1):c.230C>G (p.Thr77Arg)
|
rs80357209
|
|
NM_007294.4(BRCA1):c.230delinsGTCAACTTGTT (p.Thr77fs)
|
rs397508957
|
|
NM_007294.4(BRCA1):c.2310_2311insC (p.Val772fs)
|
rs1555589947
|
|
NM_007294.4(BRCA1):c.2325_2326insA (p.Asp776fs)
|
rs397508959
|
|
NM_007294.4(BRCA1):c.2389del (p.Glu797fs)
|
rs397508965
|
|
NM_007294.4(BRCA1):c.2413T>C (p.Cys805Arg)
|
rs397508966
|
|
NM_007294.4(BRCA1):c.2440_2441insA (p.Leu814fs)
|
rs397508969
|
|
NM_007294.4(BRCA1):c.2486_2487del (p.Gly828_Phe829insTer)
|
rs80357658
|
|
NM_007294.4(BRCA1):c.2551del (p.Glu851fs)
|
rs397508977
|
|
NM_007294.4(BRCA1):c.2556del (p.Asp853fs)
|
rs397508978
|
|
NM_007294.4(BRCA1):c.2556dup (p.Asp853Ter)
|
rs397508978
|
|
NM_007294.4(BRCA1):c.2564_2565insTTGAT (p.Gln855delinsHisTer)
|
rs397508982
|
|
NM_007294.4(BRCA1):c.2600A>G (p.Gln867Arg)
|
rs397508985
|
|
NM_007294.4(BRCA1):c.2603C>A (p.Ser868Ter)
|
rs80356925
|
|
NM_007294.4(BRCA1):c.2659_2660insA (p.Ala887fs)
|
rs397508991
|
|
NM_007294.4(BRCA1):c.2665dup (p.Ser889fs)
|
rs397508992
|
|
NM_007294.4(BRCA1):c.2671del (p.Ser891fs)
|
rs397508993
|
|
NM_007294.4(BRCA1):c.2675T>C (p.Leu892Ser)
|
rs397508994
|
|
NM_007294.4(BRCA1):c.2679_2680del (p.Lys894fs)
|
rs397508995
|
|
NM_007294.4(BRCA1):c.2689_2690insA (p.Pro897fs)
|
rs397508999
|
|
NM_007294.4(BRCA1):c.2728C>T (p.Gln910Ter)
|
rs397509004
|
|
NM_007294.4(BRCA1):c.273T>G (p.Cys91Trp)
|
rs397509006
|
|
NM_007294.4(BRCA1):c.2745dup (p.Asn916Ter)
|
rs397509008
|
|
NM_007294.4(BRCA1):c.2798_2799del (p.Gly933fs)
|
rs397509011
|
|
NM_007294.4(BRCA1):c.2812_2813del (p.Pro938fs)
|
rs730882056
|
|
NM_007294.4(BRCA1):c.2844_2853del (p.Gly949fs)
|
rs397509017
|
|
NM_007294.4(BRCA1):c.2848dup (p.Ser950fs)
|
rs397509018
|
|
NM_007294.4(BRCA1):c.2870dup (p.Phe958fs)
|
rs397509020
|
|
NM_007294.4(BRCA1):c.2872_2876del (p.Phe958fs)
|
rs397509021
|
|
NM_007294.4(BRCA1):c.2879G>A (p.Gly960Asp)
|
rs397509022
|
|
NM_007294.4(BRCA1):c.2921dup (p.Leu974fs)
|
rs80357611
|
|
NM_007294.4(BRCA1):c.2929_2930dup (p.Tyr978fs)
|
rs397509025
|
|
NM_007294.4(BRCA1):c.2967del (p.Phe989fs)
|
rs397509028
|
|
NM_007294.4(BRCA1):c.3072C>G (p.Ser1024Arg)
|
rs397509033
|
|
NM_007294.4(BRCA1):c.3074C>T (p.Thr1025Ile)
|
rs397509034
|
|
NM_007294.4(BRCA1):c.3125_3134del (p.Ser1042fs)
|
rs397509036
|
|
NM_007294.4(BRCA1):c.3140T>C (p.Val1047Ala)
|
rs397509037
|
|
NM_007294.4(BRCA1):c.3152C>G (p.Thr1051Ser)
|
rs397509039
|
|
NM_007294.4(BRCA1):c.3157del (p.Glu1053fs)
|
rs397509041
|
|
NM_007294.4(BRCA1):c.3157dup (p.Glu1053fs)
|
rs397509042
|
|
NM_007294.4(BRCA1):c.3164del (p.Gly1055fs)
|
rs397509043
|
|
NM_007294.4(BRCA1):c.3169_3172del (p.Ser1057fs)
|
rs397509045
|
|
NM_007294.4(BRCA1):c.3183del (p.Ile1061fs)
|
rs397509046
|
|
NM_007294.4(BRCA1):c.3211dup (p.Glu1071fs)
|
rs397509047
|
|
NM_007294.4(BRCA1):c.3228A>T (p.Arg1076Ser)
|
rs397509048
|
|
NM_007294.4(BRCA1):c.3289del (p.Ser1097fs)
|
rs80357686
|
|
NM_007294.4(BRCA1):c.329A>C (p.Lys110Thr)
|
rs397509053
|
|
NM_007294.4(BRCA1):c.3359_3363del (p.Val1120fs)
|
rs397509060
|
|
NM_007294.4(BRCA1):c.340T>C (p.Ser114Pro)
|
rs397509062
|
|
NM_007294.4(BRCA1):c.3413del (p.Gly1138fs)
|
rs397509063
|
|
NM_007294.4(BRCA1):c.3416del (p.Ser1139fs)
|
rs397509064
|
|
NM_007294.4(BRCA1):c.3420dup (p.His1141fs)
|
rs397509065
|
|
NM_007294.4(BRCA1):c.3450del (p.Asp1151fs)
|
rs397509068
|
|
NM_007294.4(BRCA1):c.3450dup (p.Asp1151Ter)
|
rs397509069
|
|
NM_007294.4(BRCA1):c.3468del (p.Asp1156fs)
|
rs397509070
|
|
NM_007294.4(BRCA1):c.346G>A (p.Glu116Lys)
|
rs397509071
|
|
NM_007294.4(BRCA1):c.3479_3488del (p.Lys1160fs)
|
rs397509073
|
|
NM_007294.4(BRCA1):c.3481del (p.Glu1161fs)
|
rs397509074
|
|
NM_007294.4(BRCA1):c.3491G>T (p.Ser1164Ile)
|
rs397509075
|
|
NM_007294.4(BRCA1):c.3505_3509del (p.Asn1168_Asp1169insTer)
|
rs397509078
|
|
NM_007294.4(BRCA1):c.3540_3541del (p.Val1181fs)
|
rs397509080
|
|
NM_007294.4(BRCA1):c.3549_3550del (p.Gly1184fs)
|
rs730882057
|
|
NM_007294.4(BRCA1):c.3575_3576insAA (p.Phe1193fs)
|
rs397509082
|
|
NM_007294.4(BRCA1):c.3613G>C (p.Gly1205Arg)
|
rs80357294
|
|
NM_007294.4(BRCA1):c.3621_3626delinsAA (p.Leu1209fs)
|
rs397509087
|
|
NM_007294.4(BRCA1):c.3626dup (p.Leu1209fs)
|
rs80357571
|
|
NM_007294.4(BRCA1):c.3647T>G (p.Leu1216Ter)
|
rs397509091
|
|
NM_007294.4(BRCA1):c.3649dup (p.Ser1217fs)
|
rs1555587345
|
|
NM_007294.4(BRCA1):c.3715del (p.Ser1239fs)
|
rs397509096
|
|
NM_007294.4(BRCA1):c.3716dup (p.Gln1240fs)
|
rs397509097
|
|
NM_007294.4(BRCA1):c.3722C>G (p.Ser1241Cys)
|
rs80357143
|
|
NM_007294.4(BRCA1):c.3758C>A (p.Ser1253Tyr)
|
rs397509100
|
|
NM_007294.4(BRCA1):c.3771_3778del (p.Glu1257fs)
|
rs397509104
|
|
NM_007294.4(BRCA1):c.3772G>T (p.Glu1258Ter)
|
rs397509105
|
|
NM_007294.4(BRCA1):c.3782T>G (p.Leu1261Ter)
|
rs397507219
|
|
NM_007294.4(BRCA1):c.3822_3823insT (p.Ile1275fs)
|
rs397509111
|
|
NM_007294.4(BRCA1):c.3829G>C (p.Ala1277Pro)
|
rs397509112
|
|
NM_007294.4(BRCA1):c.3871_3872insC (p.Cys1291fs)
|
rs397509114
|
|
NM_007294.4(BRCA1):c.3876del (p.Ala1293fs)
|
rs397509115
|
|
NM_007294.4(BRCA1):c.3880_3883del (p.Ser1294fs)
|
rs397509116
|
|
NM_007294.4(BRCA1):c.38_39delinsGGG (p.Asn13fs)
|
rs1567823382
|
|
NM_007294.4(BRCA1):c.3927_3930del (p.Asn1309fs)
|
rs397509120
|
|
NM_007294.4(BRCA1):c.3982dup (p.Ser1328fs)
|
rs397509124
|
|
NM_007294.4(BRCA1):c.3999del (p.Gly1334fs)
|
rs397509125
|
|
NM_007294.4(BRCA1):c.4029TGA[1] (p.Asp1344del)
|
rs397509129
|
|
NM_007294.4(BRCA1):c.4072G>A (p.Glu1358Lys)
|
rs397509136
|
|
NM_007294.4(BRCA1):c.4094del (p.Asn1364_Leu1365insTer)
|
rs397509138
|
|
NM_007294.4(BRCA1):c.4097-141A>C
|
rs799916
|
|
NM_007294.4(BRCA1):c.4116T>A (p.Cys1372Ter)
|
rs397509140
|
|
NM_007294.4(BRCA1):c.4167del (p.Ser1389fs)
|
rs397509145
|
|
NM_007294.4(BRCA1):c.4172T>C (p.Ile1391Thr)
|
rs397509146
|
|
NM_007294.4(BRCA1):c.4183_4185delCAG (p.Gln1396del)
|
rs397509147
|
|
NM_007294.4(BRCA1):c.4186-1G>A
|
rs397509150
|
|
NM_007294.4(BRCA1):c.4237G>T (p.Glu1413Ter)
|
rs397509153
|
|
NM_007294.4(BRCA1):c.4242_4243insT (p.Glu1415Ter)
|
rs397509155
|
|
NM_007294.4(BRCA1):c.4253T>G (p.Leu1418Ter)
|
rs397509157
|
|
NM_007294.4(BRCA1):c.4282_4283del (p.Ser1428fs)
|
rs397509159
|
|
NM_007294.4(BRCA1):c.4307_4308del (p.Ser1436fs)
|
rs397509161
|
|
NM_007294.4(BRCA1):c.4343G>C (p.Ser1448Thr)
|
rs80357354
|
|
NM_007294.4(BRCA1):c.4357+6T>G
|
rs80358143
|
|
NM_007294.4(BRCA1):c.437_440del (p.Ser146fs)
|
rs397509168
|
|
NM_007294.4(BRCA1):c.4391dup (p.Ile1465fs)
|
rs80357916
|
|
NM_007294.4(BRCA1):c.4396del (p.Ser1466fs)
|
rs397509170
|
|
NM_007294.4(BRCA1):c.4447del (p.Ser1483fs)
|
rs397509177
|
|
NM_007294.4(BRCA1):c.4452_4455del (p.Thr1485fs)
|
rs397509178
|
|
NM_007294.4(BRCA1):c.4471C>G (p.Pro1491Ala)
|
rs111034213
|
|
NM_007294.4(BRCA1):c.4534_4535del (p.Ser1512fs)
|
rs397509183
|
|
NM_007294.4(BRCA1):c.457_458del (p.Ser153fs)
|
rs397509185
|
|
NM_007294.4(BRCA1):c.463C>T (p.Gln155Ter)
|
rs80357180
|
|
NM_007294.4(BRCA1):c.470_477del (p.Ser157fs)
|
rs397509190
|
|
NM_007294.4(BRCA1):c.472A>T (p.Asn158Tyr)
|
rs397509192
|
|
NM_007294.4(BRCA1):c.4743A>C (p.Glu1581Asp)
|
rs397509194
|
|
NM_007294.4(BRCA1):c.4764del (p.Arg1589fs)
|
rs397509196
|
|
NM_007294.4(BRCA1):c.4777A>T (p.Ile1593Leu)
|
rs397509197
|
|
NM_007294.4(BRCA1):c.4836dup (p.Ser1613fs)
|
rs397509198
|
|
NM_007294.4(BRCA1):c.488del (p.Arg163fs)
|
rs397509202
|
|
NM_007294.4(BRCA1):c.4910del (p.Pro1637fs)
|
rs397509204
|
|
NM_007294.4(BRCA1):c.4986+5G>T
|
rs397509211
|
|
NM_007294.4(BRCA1):c.4996T>C (p.Tyr1666His)
|
rs397509215
|
|
NM_007294.4(BRCA1):c.5058T>A (p.His1686Gln)
|
rs397509218
|
|
NM_007294.4(BRCA1):c.5072C>G (p.Thr1691Arg)
|
rs80357034
|
|
NM_007294.4(BRCA1):c.5075-1G>T
|
rs1800747
|
|
NM_007294.4(BRCA1):c.5075-4G>A
|
rs397509220
|
|
NM_007294.4(BRCA1):c.5075_5078del (p.Asp1692fs)
|
rs397509223
|
|
NM_007294.4(BRCA1):c.5077_5080delinsTTCATTCTGC (p.Ala1693_Glu1694delinsPheIleLeuGln)
|
rs397509224
|
|
NM_007294.4(BRCA1):c.5087T>A (p.Val1696Glu)
|
rs397509226
|
|
NM_007294.4(BRCA1):c.5152+4A>G
|
rs397509232
|
|
NM_007294.4(BRCA1):c.5153-1G>T
|
rs80358137
|
|
NM_007294.4(BRCA1):c.5179_5192del (p.Lys1727fs)
|
rs397509234
|
|
NM_007294.4(BRCA1):c.5182del (p.Met1728fs)
|
rs34570933
|
|
NM_007294.4(BRCA1):c.5194-2A>C
|
rs80358069
|
|
NM_007294.4(BRCA1):c.5201T>C (p.Phe1734Ser)
|
rs397509237
|
|
NM_007294.4(BRCA1):c.5203G>A (p.Glu1735Lys)
|
rs397509238
|
|
NM_007294.4(BRCA1):c.5207del (p.Val1736fs)
|
rs397509239
|
|
NM_007294.4(BRCA1):c.5231del (p.Arg1744fs)
|
rs397509241
|
|
NM_007294.4(BRCA1):c.5241A>C (p.Gln1747His)
|
rs397509242
|
|
NM_007294.4(BRCA1):c.5242G>A (p.Gly1748Ser)
|
rs397507245
|
|
NM_007294.4(BRCA1):c.5245C>G (p.Pro1749Ala)
|
rs397509244
|
|
NM_007294.4(BRCA1):c.5258G>A (p.Arg1753Lys)
|
rs397509246
|
|
NM_007294.4(BRCA1):c.5258G>C (p.Arg1753Thr)
|
rs397509246
|
|
NM_007294.4(BRCA1):c.5270_5276del (p.Asp1757fs)
|
rs397509248
|
|
NM_007294.4(BRCA1):c.5277+1G>C
|
rs80358150
|
|
NM_007294.4(BRCA1):c.5277+21T>G
|
rs397509249
|
|
NM_007294.4(BRCA1):c.5277+3A>C
|
rs397509250
|
|
NM_007294.4(BRCA1):c.5277+4A>T
|
rs397509251
|
|
NM_007294.4(BRCA1):c.5277+5A>T
|
rs397509252
|
|
NM_007294.4(BRCA1):c.5278-2A>T
|
rs397509253
|
|
NM_007294.4(BRCA1):c.5278-6_5278-4del
|
rs397509254
|
|
NM_007294.4(BRCA1):c.5293G>T (p.Glu1765Ter)
|
rs397509256
|
|
NM_007294.4(BRCA1):c.5323_5324del (p.Met1775fs)
|
rs397509262
|
|
NM_007294.4(BRCA1):c.5332+1del
|
rs397509263
|
|
NM_007294.4(BRCA1):c.5332G>C (p.Asp1778His)
|
rs80357112
|
|
NM_007294.4(BRCA1):c.5332G>T (p.Asp1778Tyr)
|
rs80357112
|
|
NM_007294.4(BRCA1):c.5333-6T>G
|
rs397509266
|
|
NM_007294.4(BRCA1):c.5355G>T (p.Gln1785His)
|
rs397509269
|
|
NM_007294.4(BRCA1):c.5362G>T (p.Gly1788Cys)
|
rs397509271
|
|
NM_007294.4(BRCA1):c.5369_5385del (p.Ser1790fs)
|
rs397509272
|
|
NM_007294.4(BRCA1):c.536del (p.Tyr179fs)
|
rs397509273
|
|
NM_007294.4(BRCA1):c.5377A>T (p.Lys1793Ter)
|
rs397509274
|
|
NM_007294.4(BRCA1):c.5382G>T (p.Glu1794Asp)
|
rs397509275
|
|
NM_007294.4(BRCA1):c.5414A>C (p.His1805Pro)
|
rs397509281
|
|
NM_007294.4(BRCA1):c.5467+5G>C
|
rs397509287
|
|
NM_007294.4(BRCA1):c.5467+8G>T
|
rs80358062
|
|
NM_007294.4(BRCA1):c.5497_5506del (p.Val1833fs)
|
rs273902775
|
|
NM_007294.4(BRCA1):c.5532_5533insG (p.Tyr1845fs)
|
rs397509293
|
|
NM_007294.4(BRCA1):c.5559C>G (p.Tyr1853Ter)
|
rs80357336
|
|
NM_007294.4(BRCA1):c.557C>T (p.Ser186Phe)
|
rs55688530
|
|
NM_007294.4(BRCA1):c.594-2A>G
|
rs80358033
|
|
NM_007294.4(BRCA1):c.624_625insAGGGATGAAATCAGGAGCCA (p.Pro209fs)
|
rs397509302
|
|
NM_007294.4(BRCA1):c.62dup (p.Glu23fs)
|
rs397509303
|
|
NM_007294.4(BRCA1):c.64_65del (p.Leu22fs)
|
rs397509304
|
|
NM_007294.4(BRCA1):c.668A>G (p.Lys223Arg)
|
rs397509306
|
|
NM_007294.4(BRCA1):c.66_67insC (p.Glu23fs)
|
rs1555600909
|
|
NM_007294.4(BRCA1):c.677_678insC (p.Cys226_Glu227insTer)
|
rs397509307
|
|
NM_007294.4(BRCA1):c.72_73del (p.Pro25fs)
|
rs397509311
|
|
NM_007294.4(BRCA1):c.73C>A (p.Pro25Thr)
|
rs397509313
|
|
NM_007294.4(BRCA1):c.742dup (p.Thr248fs)
|
rs397509314
|
|
NM_007294.4(BRCA1):c.75_80dup (p.Cys27_Leu28insIleCys)
|
rs397509315
|
|
NM_007294.4(BRCA1):c.768_769insA (p.His257fs)
|
rs397509316
|
|
NM_007294.4(BRCA1):c.768_769insAG (p.His257fs)
|
rs1555593156
|
|
NM_007294.4(BRCA1):c.787G>T (p.Gly263Cys)
|
rs397509318
|
|
NM_007294.4(BRCA1):c.788G>C (p.Gly263Ala)
|
rs397509319
|
|
NM_007294.4(BRCA1):c.788G>T (p.Gly263Val)
|
rs397509319
|
|
NM_007294.4(BRCA1):c.790A>T (p.Ser264Cys)
|
rs397509321
|
|
NM_007294.4(BRCA1):c.791G>A (p.Ser264Asn)
|
rs397509322
|
|
NM_007294.4(BRCA1):c.80+6_80+9del
|
rs397509325
|
|
NM_007294.4(BRCA1):c.81-6T>A
|
rs80358179
|
|
NM_007294.4(BRCA1):c.814_824dup (p.Thr276fs)
|
rs1555593031
|
|
NM_007294.4(BRCA1):c.827_828insT (p.Asn277fs)
|
rs397509329
|
|
NM_007294.4(BRCA1):c.8T>G (p.Leu3Ter)
|
rs397509332
|
|
NM_007294.4(BRCA1):c.903_904insC (p.Ala302fs)
|
rs397509333
|
|
NM_007294.4(BRCA1):c.909del (p.Glu303fs)
|
rs397509334
|
|
NM_007294.4(BRCA1):c.961del (p.Trp321fs)
|
rs397509340
|
|
NM_007294.4(BRCA1):c.985_986del (p.Cys328_Asn329insTer)
|
rs397509341
|
|
NM_015559.3(SETBP1):c.2608G>A (p.Gly870Ser)
|
rs267607040
|
|
NM_017617.5(NOTCH1):c.4924G>C (p.Asp1642His)
|
rs1057519863
|
|
NM_017841.4(SDHAF2):c.232G>A (p.Gly78Arg)
|
rs113560320
|
|
NM_017841.4(SDHAF2):c.232G>C (p.Gly78Arg)
|
|
|
NM_020975.6(RET):c.1828A>C (p.Asn610His)
|
rs1837994023
|
|
NM_020975.6(RET):c.1998G>C (p.Lys666Asn)
|
rs146646971
|
|
NM_024426.6(WT1):c.1399C>T (p.Arg467Trp)
|
rs121907900
|
|
NM_024426.6(WT1):c.1447+4C>T
|
rs587776577
|
|
NM_024426.6(WT1):c.1447+5G>A
|
rs587776576
|
|
NM_024426.6(WT1):c.670A>T (p.Thr224Ser)
|
rs1554945246
|
|
NM_024529.5(CDC73):c.131+1G>A
|
rs587776558
|
|
NM_024529.5(CDC73):c.1418-17C>G
|
rs11583414
|
|
NM_024529.5(CDC73):c.679_680insAG (p.Arg227fs)
|
rs80356649
|
|
NM_024529.5(CDC73):c.766_767del (p.Val256fs)
|
rs80356650
|
|
NM_024675.4(PALB2):c.1490del (p.Asn497fs)
|
rs1555461253
|
|
NM_024675.4(PALB2):c.757_758del (p.Leu253fs)
|
rs180177092
|
|
NM_033360.4(KRAS):c.176C>T (p.Ala59Val)
|
rs104886029
|
|
NM_033360.4(KRAS):c.216G>A (p.Met72Ile)
|
rs104886028
|
|
NM_033360.4(KRAS):c.219G>A (p.Arg73=)
|
rs104886027
|
|
NM_177438.3(DICER1):c.5038A>G (p.Lys1680Glu)
|
rs1060503639
|
|
NM_182710.3(KAT5):c.638T>G (p.Val213Gly)
|
rs386834229
|
|
Single allele
|
|
|