NM_000535.7(PMS2):c.780C>G (p.Ser260=)
|
rs1805319
|
0.82058
|
NM_000546.6(TP53):c.74+38C>G
|
rs1642785
|
0.66254
|
NM_000516.7(GNAS):c.393C>T (p.Ile131=)
|
rs7121
|
0.56988
|
NM_014585.6(SLC40A1):c.663T>C (p.Val221=)
|
rs2304704
|
0.51099
|
NM_177438.3(DICER1):c.4206+13del
|
rs35300142
|
0.49104
|
NM_177438.3(DICER1):c.4206+9_4206+11del
|
rs367764979
|
0.46952
|
NM_145725.3(TRAF3):c.386T>C (p.Met129Thr)
|
rs1131877
|
0.43864
|
NM_177438.3(DICER1):c.4206+9G>T
|
rs1778057
|
0.25695
|
NM_003126.4(SPTA1):c.6531-12C>T
|
rs28525570
|
0.25447
|
NM_000249.4(MLH1):c.1039-31A>T
|
rs59684491
|
0.22372
|
NM_177438.3(DICER1):c.4206+11del
|
rs58202892
|
0.21617
|
NC_000011.10:g.5254939G>A
|
rs7482144
|
0.20740
|
NM_017763.6(RNF43):c.2309-15G>C
|
rs2158460
|
0.17956
|
NM_003227.4(TFR2):c.1851C>T (p.Ala617=)
|
rs2075674
|
0.16252
|
NM_000559.3(HBG1):c.-29G>A
|
rs368698783
|
0.15026
|
NM_001042492.3(NF1):c.6642+45T>A
|
rs17883614
|
0.12771
|
NM_001082486.2(ACD):c.413+3A>G
|
rs8058187
|
0.12302
|
NM_003001.5(SDHC):c.77+32A>T
|
rs77828459
|
0.12254
|
NM_002691.4(POLD1):c.810T>C (p.Ala270=)
|
rs1143666
|
0.12250
|
NM_002691.4(POLD1):c.589+31A>G
|
rs1726804
|
0.11778
|
NM_003002.4(SDHD):c.315-32T>C
|
rs4151637
|
0.11444
|
NM_003002.4(SDHD):c.170-29A>G
|
rs9919624
|
0.11431
|
NM_003002.4(SDHD):c.204C>T (p.Ser68=)
|
rs9919552
|
0.11428
|
NM_002691.4(POLD1):c.3218+10A>G
|
rs2463239
|
0.11362
|
NM_003002.4(SDHD):c.315-1646C>T
|
rs111659413
|
0.10719
|
NM_002691.4(POLD1):c.2244T>C (p.Ser748=)
|
rs1274607
|
0.10634
|
NM_002354.3(EPCAM):c.*118T>C
|
rs1421
|
0.10369
|
NM_000410.4(HFE):c.187C>G (p.His63Asp)
|
rs1799945
|
0.10170
|
NM_001023.4(RPS20):c.-6A>G
|
rs1128142
|
0.09799
|
NM_002691.4(POLD1):c.3121-19C>T
|
rs3212330
|
0.09350
|
NM_002691.4(POLD1):c.758+25G>A
|
rs3212328
|
0.08665
|
NM_177438.3(DICER1):c.4206+9_4206+19del
|
rs748368348
|
0.08619
|
NM_177438.3(DICER1):c.4206+21del
|
rs781195791
|
0.08611
|
NM_002691.4(POLD1):c.1243-34G>A
|
rs3218764
|
0.08605
|
NM_000249.4(MLH1):c.1039-33A>T
|
rs1158086051
|
0.08491
|
NM_002691.4(POLD1):c.3218+32C>T
|
rs2463238
|
0.08056
|
NM_006231.4(POLE):c.1226+45C>T
|
rs5744761
|
0.07418
|
NM_000132.4(F8):c.6769A>G (p.Met2257Val)
|
rs1800297
|
0.07378
|
NM_000264.5(PTCH1):c.1504-8T>C
|
rs2277184
|
0.07277
|
NM_000245.4(MET):c.534C>T (p.Ser178=)
|
rs35775721
|
0.07211
|
NM_006231.4(POLE):c.2469-15G>A
|
rs5744833
|
0.07057
|
NM_144997.7(FLCN):c.397-13G>A
|
rs3744123
|
0.07012
|
NM_000517.6(HBA2):c.-24C>G
|
rs772829778
|
0.06872
|
NM_004329.3(BMPR1A):c.431-26T>A
|
rs7920259
|
0.06507
|
NM_001099274.3(TINF2):c.400-20_400-18dup
|
rs58372573
|
0.06483
|
NM_001099274.3(TINF2):c.1140G>A (p.Pro380=)
|
rs10141326
|
0.06408
|
NM_000051.4(ATM):c.901+25T>G
|
rs1800735
|
0.06260
|
NM_000051.4(ATM):c.378T>A (p.Asp126Glu)
|
rs2234997
|
0.06244
|
NM_000051.4(ATM):c.4777-20A>G
|
rs3218678
|
0.06221
|
NM_000245.4(MET):c.1131C>T (p.Ile377=)
|
rs28444388
|
0.05590
|
NM_006231.4(POLE):c.4445-33C>T
|
rs5744942
|
0.05559
|
NM_000249.4(MLH1):c.1558+14G>A
|
rs41562513
|
0.05554
|
NM_024675.4(PALB2):c.-47G>A
|
rs8053188
|
0.04991
|
NM_005359.6(SMAD4):c.956-31G>A
|
rs11875522
|
0.04946
|
NM_000064.4(C3):c.2430G>A (p.Ser810=)
|
rs2230207
|
0.04934
|
NM_000249.4(MLH1):c.1039-31del
|
rs756911937
|
0.04867
|
NM_002691.4(POLD1):c.1495-44A>G
|
rs3219396
|
0.04859
|
NM_000558.5(HBA1):c.-24C>G
|
rs374054030
|
0.04854
|
NM_001048174.2(MUTYH):c.22G>A (p.Val8Met)
|
rs3219484
|
0.04794
|
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg)
|
rs1799950
|
0.04695
|
NM_000064.4(C3):c.3810+205T>A
|
rs11569582
|
0.04691
|
NM_000264.5(PTCH1):c.3583A>T (p.Thr1195Ser)
|
rs2236405
|
0.04656
|
NC_000005.10:g.112707473A>C
|
rs75580617
|
0.04642
|
NM_003001.5(SDHC):c.77+36T>A
|
rs117507008
|
0.04608
|
NM_002691.4(POLD1):c.1548C>T (p.Ala516=)
|
rs2230247
|
0.04514
|
NM_002691.4(POLD1):c.1539G>A (p.Leu513=)
|
rs2230246
|
0.04513
|
NM_000059.4(BRCA2):c.2971A>G (p.Asn991Asp)
|
rs1799944
|
0.04357
|
NM_018975.4(TERF2IP):c.-25C>A
|
rs2233810
|
0.04346
|
NM_004329.3(BMPR1A):c.435G>A (p.Pro145=)
|
rs11818239
|
0.04296
|
NM_004655.4(AXIN2):c.432T>C (p.Ile144=)
|
rs2240307
|
0.04207
|
NM_006019.4(TCIRG1):c.166C>T (p.Arg56Trp)
|
rs36027301
|
0.04199
|
NM_004329.3(BMPR1A):c.675+12G>A
|
rs12267107
|
0.04183
|
NM_000455.5(STK11):c.291-32C>T
|
rs57281474
|
0.04127
|
NM_007194.4(CHEK2):c.252A>G (p.Glu84=)
|
rs1805129
|
0.04009
|
NM_002439.5(MSH3):c.1897-8A>G
|
rs6151800
|
0.03966
|
NM_000535.7(PMS2):c.288C>T (p.Ala96=)
|
rs12532895
|
0.03944
|
NM_004360.5(CDH1):c.531+10G>C
|
rs33963999
|
0.03907
|
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr)
|
rs1800562
|
0.03880
|
NM_004360.5(CDH1):c.2253C>T (p.Asn751=)
|
rs33964119
|
0.03869
|
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val)
|
rs1801426
|
0.03864
|
NM_002439.5(MSH3):c.792+50G>A
|
rs6151630
|
0.03852
|
NM_020975.6(RET):c.2508C>T (p.Ser836=)
|
rs1800862
|
0.03791
|
NM_001042492.3(NF1):c.6148-29_6148-28insA
|
rs66638017
|
0.03789
|
NM_000264.5(PTCH1):c.3141T>G (p.Leu1047=)
|
rs2066835
|
0.03773
|
NM_000059.4(BRCA2):c.2229T>C (p.His743=)
|
rs1801499
|
0.03698
|
NM_000059.4(BRCA2):c.865A>C (p.Asn289His)
|
rs766173
|
0.03693
|
NM_000059.4(BRCA2):c.1365A>G (p.Ser455=)
|
rs1801439
|
0.03688
|
NM_000249.4(MLH1):c.1039-29A>T
|
rs6771325
|
0.03662
|
NM_177438.3(DICER1):c.4680G>A (p.Ala1560=)
|
rs61729797
|
0.03654
|
NM_177438.3(DICER1):c.3033G>A (p.Ala1011=)
|
rs8019857
|
0.03643
|
NM_000402.4(G6PD):c.292G>A (p.Val98Met)
|
rs1050828
|
0.03616
|
NM_000179.3(MSH6):c.261-36A>G
|
rs1800931
|
0.03614
|
NM_177438.3(DICER1):c.5096-49del
|
rs141740313
|
0.03614
|
NM_000251.3(MSH2):c.2005+42G>T
|
rs17218446
|
0.03590
|
NM_002691.4(POLD1):c.1860G>A (p.Thr620=)
|
rs1726790
|
0.03590
|
NM_002691.4(POLD1):c.971-12C>T
|
rs1673044
|
0.03582
|
NM_002691.4(POLD1):c.234C>G (p.Arg78=)
|
rs2228665
|
0.03571
|
NM_144997.7(FLCN):c.1233G>A (p.Glu411=)
|
rs61750032
|
0.03557
|
NM_001082486.2(ACD):c.1371G>T (p.Pro457=)
|
rs14920
|
0.03535
|
NM_015450.3(POT1):c.1884A>C (p.Thr628=)
|
rs17147565
|
0.03412
|
NM_000245.4(MET):c.144G>A (p.Ala48=)
|
rs11762213
|
0.03399
|
NM_002354.3(EPCAM):c.904-12T>C
|
rs62139669
|
0.03374
|
NM_004360.5(CDH1):c.48+5C>G
|
rs77312180
|
0.03370
|
NM_000051.4(ATM):c.4578C>T (p.Pro1526=)
|
rs1800889
|
0.03196
|
NM_002691.4(POLD1):c.970+28C>T
|
rs1726806
|
0.03185
|
NM_002691.4(POLD1):c.518G>A (p.Ser173Asn)
|
rs1726803
|
0.03166
|
NM_000143.4(FH):c.1302C>T (p.Cys434=)
|
rs2070080
|
0.03163
|
NM_001038.6(SCNN1A):c.-55+5G>C
|
rs13306617
|
0.03104
|
NM_000245.4(MET):c.1701+25A>G
|
rs73469198
|
0.03101
|
NM_032043.3(BRIP1):c.94-18T>G
|
rs2138005
|
0.03086
|
NM_000038.6(APC):c.7704A>G (p.Gly2568=)
|
rs35043160
|
0.02992
|
NM_001040108.2(MLH3):c.2159A>G (p.Tyr720Cys)
|
rs28756988
|
0.02978
|
NM_000051.4(ATM):c.3403-15T>A
|
rs79701258
|
0.02975
|
NM_000249.4(MLH1):c.1039-33del
|
rs768143505
|
0.02957
|
NM_018975.4(TERF2IP):c.970A>G (p.Lys324Glu)
|
rs4888444
|
0.02920
|
NM_144997.7(FLCN):c.726A>T (p.Thr242=)
|
rs113938514
|
0.02907
|
NM_004168.4(SDHA):c.113A>T (p.Asp38Val)
|
rs34635677
|
0.02888
|
NM_000143.4(FH):c.309C>T (p.Ala103=)
|
rs10926501
|
0.02876
|
NM_003002.4(SDHD):c.315-1708C>T
|
rs113458823
|
0.02846
|
NM_000051.4(ATM):c.657T>C (p.Cys219=)
|
rs2235003
|
0.02841
|
NM_002354.3(EPCAM):c.492-5T>C
|
rs78608315
|
0.02826
|
NM_001370259.2(MEN1):c.435C>T (p.Ser145=)
|
rs61736636
|
0.02784
|
NM_002691.4(POLD1):c.1173C>T (p.Asp391=)
|
rs2230244
|
0.02764
|
NM_020975.6(RET):c.1264-5C>T
|
rs9282835
|
0.02749
|
NM_001903.5(CTNNA1):c.540A>C (p.Leu180=)
|
rs11552054
|
0.02707
|
NM_000051.4(ATM):c.662+38T>C
|
rs2235004
|
0.02706
|
NM_006231.4(POLE):c.3379-5T>C
|
rs5744886
|
0.02670
|
NM_000791.4(DHFR):c.-400A>G
|
rs2405875
|
0.02618
|
NM_001083603.1(PTCH1):c.163G>C (p.Asp55His)
|
rs73527759
|
0.02608
|
NM_000455.5(STK11):c.816C>T (p.Tyr272=)
|
rs9282859
|
0.02603
|
NM_002691.4(POLD1):c.463+9C>T
|
rs1673046
|
0.02570
|
NM_001023.4(RPS20):c.4-11T>C
|
rs113118429
|
0.02567
|
NM_000051.4(ATM):c.1254A>G (p.Gln418=)
|
rs4987943
|
0.02542
|
NM_003000.3(SDHB):c.200+35G>A
|
rs61769190
|
0.02530
|
NM_024675.4(PALB2):c.3300T>G (p.Thr1100=)
|
rs45516100
|
0.02529
|
NM_000535.7(PMS2):c.1532C>T (p.Thr511Met)
|
rs74902811
|
0.02492
|
NM_004360.5(CDH1):c.1320+45G>C
|
rs33950903
|
0.02489
|
NM_000051.4(ATM):c.8786+8A>C
|
rs4986839
|
0.02488
|
NM_001903.5(CTNNA1):c.2434-28C>A
|
rs28363502
|
0.02483
|
NM_000143.4(FH):c.927G>A (p.Pro309=)
|
rs61737760
|
0.02428
|
NM_000143.4(FH):c.268-22A>T
|
rs2275162
|
0.02420
|
NM_004329.3(BMPR1A):c.1342+6A>G
|
rs55763614
|
0.02404
|
NM_000245.4(MET):c.3633-38A>G
|
rs115240747
|
0.02393
|
NM_004656.4(BAP1):c.1786A>G (p.Ser596Gly)
|
rs79014342
|
0.02383
|
NM_000249.4(MLH1):c.2152C>T (p.His718Tyr)
|
rs2020873
|
0.02345
|
NM_006231.4(POLE):c.3126G>A (p.Lys1042=)
|
rs5744856
|
0.02344
|
NM_000251.3(MSH2):c.380A>G (p.Asn127Ser)
|
rs17217772
|
0.02317
|
NM_001048174.2(MUTYH):c.115+30A>G
|
rs3219485
|
0.02310
|
NM_000535.7(PMS2):c.1488C>T (p.His496=)
|
rs1805320
|
0.02307
|
NM_000455.5(STK11):c.264C>A (p.Ile88=)
|
rs56354945
|
0.02303
|
NM_002354.3(EPCAM):c.859-7C>T
|
rs72882786
|
0.02290
|
NM_024426.6(WT1):c.662-1928_662-1927del
|
rs71873106
|
0.02282
|
NM_213653.4(HJV):c.929C>G (p.Ala310Gly)
|
rs7540883
|
0.02277
|
NM_000455.5(STK11):c.734+41T>C
|
rs115624397
|
0.02258
|
NM_144997.7(FLCN):c.780-33G>A
|
rs114077642
|
0.02254
|
NM_000264.5(PTCH1):c.735A>G (p.Thr245=)
|
rs1805154
|
0.02243
|
NM_002691.4(POLD1):c.1687-50C>T
|
rs3219400
|
0.02223
|
NM_002691.4(POLD1):c.1687-46C>T
|
rs3219401
|
0.02218
|
NM_000051.4(ATM):c.5497-8T>C
|
rs3092829
|
0.02183
|
NM_000535.7(PMS2):c.1531A>G (p.Thr511Ala)
|
rs2228007
|
0.02174
|
NM_024675.4(PALB2):c.2014G>C (p.Glu672Gln)
|
rs45532440
|
0.02171
|
NM_000051.4(ATM):c.2639-17G>T
|
rs2234994
|
0.02161
|
NM_000051.4(ATM):c.497-48T>G
|
rs2235001
|
0.02158
|
NM_000051.4(ATM):c.4138C>T (p.His1380Tyr)
|
rs3092856
|
0.02156
|
NM_017763.6(RNF43):c.2309-29C>T
|
rs2158459
|
0.02153
|
NM_001142864.4(PIEZO1):c.1365G>A (p.Thr455=)
|
rs61742623
|
0.02147
|
NM_000465.4(BARD1):c.1933T>C (p.Cys645Arg)
|
rs2228456
|
0.02135
|
NM_024675.4(PALB2):c.629C>T (p.Pro210Leu)
|
rs57605939
|
0.02101
|
NM_000551.4(VHL):c.341-37G>A
|
rs115744107
|
0.02087
|
NM_001040108.2(MLH3):c.2390G>A (p.Arg797His)
|
rs28756991
|
0.02060
|
NM_002691.4(POLD1):c.2154+13_2154+14insA
|
rs3218767
|
0.02057
|
NM_004360.5(CDH1):c.1896C>T (p.His632=)
|
rs33969373
|
0.02054
|
NM_006231.4(POLE):c.4290+5C>T
|
rs5744936
|
0.02053
|
NM_006231.4(POLE):c.2340G>A (p.Ser780=)
|
rs5744822
|
0.02051
|
NM_001040108.2(MLH3):c.2221G>T (p.Val741Phe)
|
rs28756990
|
0.02049
|
NM_001903.5(CTNNA1):c.2226C>G (p.Val742=)
|
rs11552052
|
0.02031
|
NM_001146227.3(RPS20):c.343T>C (p.Ser115Pro)
|
rs79444047
|
0.02024
|
NM_000249.4(MLH1):c.116+220T>G
|
rs4647205
|
0.02010
|
NM_000077.5(CDKN2A):c.442G>A (p.Ala148Thr)
|
rs3731249
|
0.02007
|
NM_000179.3(MSH6):c.2253T>C (p.Asn751=)
|
rs2020913
|
0.02003
|
NM_002691.4(POLD1):c.317-42C>T
|
rs3219374
|
0.01992
|
NM_001040108.2(MLH3):c.666G>A (p.Lys222=)
|
rs28756980
|
0.01977
|
NM_004656.4(BAP1):c.1413T>G (p.Ala471=)
|
rs34736117
|
0.01973
|
NM_000251.3(MSH2):c.573C>T (p.Leu191=)
|
rs1800151
|
0.01972
|
NM_001040108.2(MLH3):c.444G>C (p.Val148=)
|
rs11556091
|
0.01944
|
NM_000249.4(MLH1):c.1039-35A>T
|
rs867680022
|
0.01897
|
NM_001040108.2(MLH3):c.4242+13C>G
|
rs77157930
|
0.01890
|
NM_000051.4(ATM):c.1541G>A (p.Gly514Asp)
|
rs2235000
|
0.01889
|
NM_024675.4(PALB2):c.1684+29A>G
|
rs74320059
|
0.01884
|
NM_001354604.2(MITF):c.1031+31T>C
|
rs55754687
|
0.01857
|
NM_006231.4(POLE):c.2320-13A>G
|
rs75329753
|
0.01853
|
NM_213653.4(HJV):c.98-6C>G
|
rs56025621
|
0.01841
|
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met)
|
rs4987117
|
0.01834
|
NM_022051.3(EGLN1):c.471G>C (p.Gln157His)
|
rs61750991
|
0.01830
|
NM_177438.3(DICER1):c.4206+9_4206+17del
|
rs772457274
|
0.01816
|
NM_004329.3(BMPR1A):c.67+46C>T
|
rs73351703
|
0.01806
|
NM_000249.4(MLH1):c.381-41A>G
|
rs4647245
|
0.01794
|
NM_177438.3(DICER1):c.2997T>G (p.Leu999=)
|
rs12018992
|
0.01764
|
NM_000130.4(F5):c.1601G>A (p.Arg534Gln)
|
rs6025
|
0.01762
|
NM_013372.7(GREM1):c.207C>G (p.Pro69=)
|
rs2280738
|
0.01757
|
NM_000245.4(MET):c.1124A>G (p.Asn375Ser)
|
rs33917957
|
0.01723
|
NM_024675.4(PALB2):c.2993G>A (p.Gly998Glu)
|
rs45551636
|
0.01717
|
NM_000251.3(MSH2):c.965G>A (p.Gly322Asp)
|
rs4987188
|
0.01714
|
NM_001354604.2(MITF):c.330G>A (p.Thr110=)
|
rs9849776
|
0.01713
|
NM_002691.4(POLD1):c.1713C>T (p.Pro571=)
|
rs2230248
|
0.01698
|
NM_000038.6(APC):c.7504G>A (p.Gly2502Ser)
|
rs2229995
|
0.01693
|
NM_177438.3(DICER1):c.4206+15del
|
rs778075402
|
0.01669
|
NM_002354.3(EPCAM):c.*265A>T
|
rs11554292
|
0.01658
|
NM_000535.7(PMS2):c.1866G>A (p.Met622Ile)
|
rs1805324
|
0.01651
|
NM_144997.7(FLCN):c.872-13A>G
|
rs114970273
|
0.01651
|
NM_144997.7(FLCN):c.1176+30C>T
|
rs75593733
|
0.01643
|
NM_004360.5(CDH1):c.2634C>T (p.Gly878=)
|
rs2229044
|
0.01638
|
NM_000546.6(TP53):c.993+12T>C
|
rs1800899
|
0.01614
|
NM_002354.3(EPCAM):c.*36G>A
|
rs77204711
|
0.01614
|
NM_001267550.2(TTN):c.8467G>T (p.Val2823Phe)
|
rs33917087
|
0.01611
|
NM_003001.5(SDHC):c.-38G>A
|
rs112556972
|
0.01611
|
NM_000051.4(ATM):c.186-17A>G
|
rs4987907
|
0.01587
|
NM_007194.4(CHEK2):c.1542+11T>A
|
rs17881716
|
0.01583
|
NM_000264.5(PTCH1):c.318C>T (p.Leu106=)
|
rs1805153
|
0.01567
|
NM_020975.6(RET):c.2944C>T (p.Arg982Cys)
|
rs17158558
|
0.01567
|
NM_000051.4(ATM):c.2193C>T (p.Tyr731=)
|
rs2229019
|
0.01543
|
NM_001042492.3(NF1):c.2851-16T>C
|
rs17880825
|
0.01543
|
NM_000051.4(ATM):c.1636C>G (p.Leu546Val)
|
rs2227924
|
0.01541
|
NM_177438.3(DICER1):c.4206+19del
|
rs754431682
|
0.01535
|
NM_004168.4(SDHA):c.1305G>T (p.Leu435=)
|
rs35964044
|
0.01515
|
NM_004329.3(BMPR1A):c.1140C>T (p.Asp380=)
|
rs35572415
|
0.01512
|
NM_000465.4(BARD1):c.1314+29C>G
|
rs71579845
|
0.01508
|
NM_024675.4(PALB2):c.1010T>C (p.Leu337Ser)
|
rs45494092
|
0.01508
|
NM_000143.4(FH):c.904+47G>A
|
rs145209119
|
0.01502
|
NM_006231.4(POLE):c.5379-27G>A
|
rs5744965
|
0.01498
|
NM_001040108.2(MLH3):c.2533A>G (p.Ser845Gly)
|
rs28756992
|
0.01483
|
NM_000051.4(ATM):c.3161C>G (p.Pro1054Arg)
|
rs1800057
|
0.01452
|
NM_177438.3(DICER1):c.4206+9_4206+13del
|
rs745445238
|
0.01449
|
NM_144997.7(FLCN):c.1176+31G>A
|
rs41340844
|
0.01448
|
NM_000465.4(BARD1):c.1670G>C (p.Cys557Ser)
|
rs28997576
|
0.01443
|
NM_006231.4(POLE):c.2550C>T (p.Ile850=)
|
rs5744834
|
0.01438
|
NM_000388.4(CASR):c.1333A>G (p.Thr445Ala)
|
rs12493789
|
0.01436
|
NM_004360.5(CDH1):c.1008+47T>C
|
rs34374107
|
0.01435
|
NM_000251.3(MSH2):c.1077-10T>C
|
rs17224360
|
0.01428
|
NM_006231.4(POLE):c.6418G>A (p.Glu2140Lys)
|
rs5745066
|
0.01416
|
NM_001354897.2(APC):c.-416A>G
|
rs116505416
|
0.01415
|
NM_177438.3(DICER1):c.3198T>C (p.Thr1066=)
|
rs114964211
|
0.01414
|
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr)
|
rs33935154
|
0.01412
|
NM_001042492.3(NF1):c.8113+20G>A
|
rs55747230
|
0.01406
|
NM_006231.4(POLE):c.5678+4C>T
|
rs5744973
|
0.01405
|
NM_006231.4(POLE):c.6330+18C>T
|
rs5745024
|
0.01405
|
NM_000051.4(ATM):c.6095+15T>C
|
rs3212321
|
0.01395
|
NM_000051.4(ATM):c.2614C>T (p.Pro872Ser)
|
rs3218673
|
0.01393
|
NM_000051.4(ATM):c.2685A>G (p.Leu895=)
|
rs3218687
|
0.01393
|
NM_007294.4(BRCA1):c.*36C>G
|
rs3092995
|
0.01385
|
NM_000179.3(MSH6):c.1164C>T (p.His388=)
|
rs55708305
|
0.01384
|
NM_001042492.3(NF1):c.168C>T (p.Ser56=)
|
rs17881168
|
0.01374
|
NM_004655.4(AXIN2):c.1383C>T (p.Ser461=)
|
rs9914661
|
0.01367
|
NM_000179.3(MSH6):c.2272C>T (p.Leu758=)
|
rs56371757
|
0.01363
|
NM_004655.4(AXIN2):c.1615G>A (p.Val539Met)
|
rs9913621
|
0.01361
|
NM_001040108.2(MLH3):c.691A>C (p.Lys231Gln)
|
rs28756981
|
0.01348
|
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile)
|
rs1799967
|
0.01348
|
NM_003001.5(SDHC):c.-32T>C
|
rs115782155
|
0.01342
|
NM_004329.3(BMPR1A):c.-25A>G
|
rs116346662
|
0.01322
|
NM_006231.4(POLE):c.91G>T (p.Ala31Ser)
|
rs34047482
|
0.01320
|
NM_002691.4(POLD1):c.2251-23A>G
|
rs3218769
|
0.01319
|
NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln)
|
rs607969
|
0.01309
|
NM_003000.3(SDHB):c.8C>G (p.Ala3Gly)
|
rs11203289
|
0.01309
|
NM_000249.4(MLH1):c.1039-27T>A
|
rs9862158
|
0.01307
|
NM_000518.5(HBB):c.20A>T (p.Glu7Val)
|
rs334
|
0.01298
|
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys)
|
rs28929474
|
0.01282
|
NM_000059.4(BRCA2):c.8830A>T (p.Ile2944Phe)
|
rs4987047
|
0.01281
|
NM_000051.4(ATM):c.3403-34T>A
|
rs148368017
|
0.01280
|
NM_000546.6(TP53):c.639A>G (p.Arg213=)
|
rs1800372
|
0.01275
|
NM_000077.5(CDKN2A):c.-25C>T
|
rs144481587
|
0.01273
|
NM_006231.4(POLE):c.6330+19G>A
|
rs5745025
|
0.01268
|
NM_000051.4(ATM):c.3118A>G (p.Met1040Val)
|
rs3092857
|
0.01233
|
NM_000059.4(BRCA2):c.8460A>C (p.Val2820=)
|
rs9590940
|
0.01220
|
NM_000551.4(VHL):c.463+43A>G
|
rs34661876
|
0.01217
|
NM_058216.3(RAD51C):c.90G>A (p.Ala30=)
|
rs115414895
|
0.01193
|
NM_001903.5(CTNNA1):c.546T>G (p.Pro182=)
|
rs28363395
|
0.01185
|
NM_000038.6(APC):c.3732A>G (p.Gln1244=)
|
rs74380081
|
0.01174
|
NM_000038.6(APC):c.1695A>G (p.Glu565=)
|
rs77921116
|
0.01170
|
NM_000249.4(MLH1):c.474C>T (p.Asn158=)
|
rs4647256
|
0.01161
|
NM_001701.4(BAAT):c.350A>G (p.Lys117Arg)
|
rs115215226
|
0.01157
|
NM_024529.5(CDC73):c.828+29A>T
|
rs138541554
|
0.01151
|
NM_000051.4(ATM):c.4258C>T (p.Leu1420Phe)
|
rs1800058
|
0.01150
|
NM_000038.6(APC):c.730-29A>T
|
rs75083764
|
0.01144
|
NM_001903.5(CTNNA1):c.1390-11A>G
|
rs28363461
|
0.01143
|
NM_001903.5(CTNNA1):c.1405C>T (p.Leu469=)
|
rs28363462
|
0.01143
|
NM_001040108.2(MLH3):c.1258G>A (p.Val420Ile)
|
rs28756982
|
0.01142
|
NM_006231.4(POLE):c.2174-8G>A
|
rs117409343
|
0.01137
|
NM_000038.6(APC):c.7201C>T (p.Leu2401=)
|
rs2229994
|
0.01134
|
NM_000251.3(MSH2):c.2766T>C (p.Phe922=)
|
rs55859129
|
0.01118
|
NC_000005.10:g.112707477del
|
rs201014315
|
0.01117
|
NC_000005.10:g.112707478G>C
|
rs59923692
|
0.01117
|
NM_004168.4(SDHA):c.822C>T (p.Gly274=)
|
rs34771391
|
0.01114
|
NM_000051.4(ATM):c.6572+12G>T
|
rs3218677
|
0.01112
|
NM_017763.6(RNF43):c.2280G>A (p.Pro760=)
|
rs61746279
|
0.01112
|
NM_002691.4(POLD1):c.2862G>C (p.Thr954=)
|
rs3219440
|
0.01109
|
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn)
|
rs4986852
|
0.01109
|
NM_005918.4(MDH2):c.429G>A (p.Pro143=)
|
rs11538801
|
0.01103
|
NM_002878.4(RAD51D):c.698A>G (p.Glu233Gly)
|
rs28363284
|
0.01102
|
NM_015450.3(POT1):c.1792+50A>G
|
rs146966778
|
0.01095
|
NM_001048174.2(MUTYH):c.1517G>A (p.Arg506Gln)
|
rs3219497
|
0.01092
|
NM_000264.5(PTCH1):c.2199A>G (p.Ser733=)
|
rs2227970
|
0.01091
|
NM_000535.7(PMS2):c.2275+25C>T
|
rs184115126
|
0.01090
|
NM_002691.4(POLD1):c.971-35C>T
|
rs56368556
|
0.01086
|
NM_000051.4(ATM):c.735C>T (p.Val245=)
|
rs3218674
|
0.01085
|
NM_002691.4(POLD1):c.849G>T (p.Gln283His)
|
rs113282414
|
0.01085
|
NM_006231.4(POLE):c.5811+46G>A
|
rs5744992
|
0.01076
|
NM_002528.7(NTHL1):c.116-17C>T
|
rs2233518
|
0.01075
|
NM_000535.7(PMS2):c.1557T>C (p.Tyr519=)
|
rs6972869
|
0.01065
|
NM_000059.4(BRCA2):c.8487+19A>G
|
rs11571743
|
0.01055
|
NM_007294.4(BRCA1):c.3418A>G (p.Ser1140Gly)
|
rs2227945
|
0.01054
|
NM_001040108.2(MLH3):c.2896T>C (p.Ser966Pro)
|
rs17782839
|
0.01052
|
NM_000535.7(PMS2):c.705+36C>T
|
rs111908557
|
0.01046
|
NM_000410.4(HFE):c.193A>T (p.Ser65Cys)
|
rs1800730
|
0.01042
|
NM_002691.4(POLD1):c.202+41G>A
|
rs56055109
|
0.01037
|
NM_003001.5(SDHC):c.77+28A>T
|
rs199581931
|
0.01032
|
NM_001083603.3(PTCH1):c.-132G>A
|
rs118133906
|
0.01024
|
NM_007294.4(BRCA1):c.212+23T>A
|
rs8176128
|
0.01018
|
NM_001903.5(CTNNA1):c.588+45A>G
|
rs28363396
|
0.01010
|
NM_000551.4(VHL):c.340+648T>C
|
rs73024533
|
0.01009
|
NM_177438.3(DICER1):c.4206+9del
|
rs368080354
|
0.01007
|
NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser)
|
rs1805318
|
0.01006
|
NM_000249.4(MLH1):c.1039-29del
|
rs746933807
|
0.01004
|
NM_000388.4(CASR):c.2610G>A (p.Glu870=)
|
rs143738711
|
0.01002
|
NM_016169.4(SUFU):c.1023-23C>G
|
rs117407459
|
0.01001
|
NM_139027.6(ADAMTS13):c.2195C>T (p.Ala732Val)
|
rs41314453
|
0.01000
|
NM_001048174.2(MUTYH):c.1460C>T (p.Ser487Phe)
|
rs140118273
|
0.00997
|
NM_001903.5(CTNNA1):c.2343A>G (p.Gln781=)
|
rs75050399
|
0.00996
|
NM_000249.4(MLH1):c.588+11G>C
|
rs4647258
|
0.00993
|
NM_002528.7(NTHL1):c.116-37T>C
|
rs3211968
|
0.00990
|
NM_001040108.2(MLH3):c.2825C>T (p.Thr942Ile)
|
rs17102999
|
0.00989
|
NM_000264.5(PTCH1):c.*1+37A>G
|
rs56237839
|
0.00987
|
NM_002691.4(POLD1):c.1686+47G>A
|
rs3219399
|
0.00986
|
NM_001146227.3(RPS20):c.*35G>A
|
rs150975205
|
0.00985
|
NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg)
|
rs4986860
|
0.00984
|
NM_000546.6(TP53):c.1101-49C>T
|
rs17881850
|
0.00982
|
NM_002067.5(GNA11):c.736-6C>T
|
rs116848044
|
0.00980
|
NM_000506.5(F2):c.*97G>A
|
rs1799963
|
0.00979
|
NM_000245.4(MET):c.-14-13C>T
|
rs36080330
|
0.00978
|
NM_002691.4(POLD1):c.1761C>T (p.Ile587=)
|
rs3218755
|
0.00976
|
NM_000546.6(TP53):c.108G>A (p.Pro36=)
|
rs1800370
|
0.00974
|
NM_004360.5(CDH1):c.933C>G (p.Leu311=)
|
rs35539711
|
0.00974
|
NM_000038.6(APC):c.1312+27G>A
|
rs74975092
|
0.00973
|
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu)
|
rs56082113
|
0.00964
|
NM_000264.5(PTCH1):c.3845C>T (p.Pro1282Leu)
|
rs2227968
|
0.00959
|
NM_006231.4(POLE):c.2928C>T (p.Arg976=)
|
rs5744845
|
0.00958
|
NM_177438.3(DICER1):c.1935G>A (p.Pro645=)
|
rs61751177
|
0.00958
|
NM_006231.4(POLE):c.1795-22C>T
|
rs5744797
|
0.00955
|
NM_001040108.2(MLH3):c.3827+44C>T
|
rs55761037
|
0.00954
|
NM_000791.4(DHFR):c.-416C>G
|
rs2001675
|
0.00949
|
NM_001040108.2(MLH3):c.3570+28A>T
|
rs67547819
|
0.00949
|
NM_006231.4(POLE):c.5583A>C (p.Ser1861=)
|
rs5744972
|
0.00949
|
NM_003738.5(PTCH2):c.90G>A (p.Leu30=)
|
rs45573433
|
0.00945
|
NM_000051.4(ATM):c.3993+40G>A
|
rs3218709
|
0.00933
|
NM_000245.4(MET):c.2888-36G>A
|
rs35624294
|
0.00931
|
NM_004655.4(AXIN2):c.1573C>G (p.Pro525Ala)
|
rs73346297
|
0.00930
|
NM_000546.6(TP53):c.1100+30A>T
|
rs17880847
|
0.00929
|
NM_001127511.3(APC):c.78C>A (p.Ser26Arg)
|
rs113782655
|
0.00928
|
NM_000249.4(MLH1):c.1732-19T>A
|
rs77120160
|
0.00923
|
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro)
|
rs33927012
|
0.00921
|
NM_000249.4(MLH1):c.1039-26T>A
|
rs1360955428
|
0.00920
|
NM_024675.4(PALB2):c.925A>G (p.Ile309Val)
|
rs3809683
|
0.00919
|
NM_000038.6(APC):c.2608C>T (p.Pro870Ser)
|
rs33974176
|
0.00917
|
NM_000249.4(MLH1):c.1959G>T (p.Leu653=)
|
rs1800146
|
0.00913
|
NM_006231.4(POLE):c.3265_3275+15dup
|
rs1555225627
|
0.00913
|
NM_000245.4(MET):c.2975C>T (p.Thr992Ile)
|
rs56391007
|
0.00911
|
NM_001040108.2(MLH3):c.8A>G (p.Lys3Arg)
|
rs114829239
|
0.00905
|
NM_002691.4(POLD1):c.1137+34G>A
|
rs55808115
|
0.00904
|
NM_006231.4(POLE):c.5804G>A (p.Cys1935Tyr)
|
rs5744991
|
0.00898
|
NM_006206.6(PDGFRA):c.236G>A (p.Gly79Asp)
|
rs36035373
|
0.00897
|
UGT1A1*6
|
rs4148323
|
0.00891
|
NM_000264.5(PTCH1):c.1854C>T (p.Cys618=)
|
rs62637628
|
0.00887
|
NM_001040108.2(MLH3):c.3988-35C>T
|
rs45622433
|
0.00881
|
NM_020975.6(RET):c.375C>A (p.Val125=)
|
rs1800859
|
0.00877
|
NM_000179.3(MSH6):c.3306T>A (p.Thr1102=)
|
rs2020910
|
0.00869
|
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr)
|
rs11571707
|
0.00868
|
NM_002878.4(RAD51D):c.-38G>T
|
rs114252524
|
0.00868
|
NM_000051.4(ATM):c.2572T>C (p.Phe858Leu)
|
rs1800056
|
0.00861
|
NM_000535.7(PMS2):c.52A>G (p.Ile18Val)
|
rs63750123
|
0.00861
|
NM_000059.4(BRCA2):c.7806-40A>G
|
rs9590939
|
0.00858
|
NM_000546.6(TP53):c.97-6C>T
|
rs35117667
|
0.00847
|
NM_000321.3(RB1):c.1695+30060C>A
|
rs17071686
|
0.00841
|
NM_058216.3(RAD51C):c.405-49C>T
|
rs116809738
|
0.00838
|
NM_000051.4(ATM):c.2922-21T>G
|
rs149096247
|
0.00835
|
NM_001243133.2(NLRP3):c.592G>A (p.Val198Met)
|
rs121908147
|
0.00835
|
NM_000264.5(PTCH1):c.1641C>T (p.Ser547=)
|
rs2066830
|
0.00827
|
NM_000051.4(ATM):c.8419-19A>G
|
rs12279930
|
0.00824
|
NM_000249.4(MLH1):c.637G>A (p.Val213Met)
|
rs2308317
|
0.00818
|
NM_017763.6(RNF43):c.1585C>T (p.Arg529Trp)
|
rs62636625
|
0.00813
|
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr)
|
rs11571769
|
0.00809
|
NM_177438.3(DICER1):c.1887G>A (p.Thr629=)
|
rs141651702
|
0.00806
|
NM_006231.4(POLE):c.1007A>G (p.Asn336Ser)
|
rs5744760
|
0.00805
|
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=)
|
rs36060526
|
0.00793
|
NM_000059.4(BRCA2):c.7017G>C (p.Lys2339Asn)
|
rs45574331
|
0.00792
|
NM_000059.4(BRCA2):c.9730G>A (p.Val3244Ile)
|
rs11571831
|
0.00792
|
NM_000059.4(BRCA2):c.5418A>G (p.Glu1806=)
|
rs34351119
|
0.00791
|
NM_002439.5(MSH3):c.1567G>A (p.Glu523Lys)
|
rs34058399
|
0.00789
|
NM_000465.4(BARD1):c.609A>C (p.Gly203=)
|
rs28997574
|
0.00787
|
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile)
|
rs63750055
|
0.00784
|
NM_000051.4(ATM):c.2119T>C (p.Ser707Pro)
|
rs4986761
|
0.00782
|
NM_177438.3(DICER1):c.2370G>A (p.Arg790=)
|
rs112712209
|
0.00777
|
NM_004069.6(AP2S1):c.328-22C>T
|
rs45527038
|
0.00776
|
NM_001040108.2(MLH3):c.1870G>C (p.Glu624Gln)
|
rs28756986
|
0.00772
|
NM_000059.4(BRCA2):c.1788T>C (p.Asp596=)
|
rs11571642
|
0.00768
|
NM_002485.5(NBN):c.37+5G>A
|
rs116735828
|
0.00767
|
NM_000059.4(BRCA2):c.516+21A>T
|
rs11571622
|
0.00765
|
NM_002691.4(POLD1):c.970+49C>T
|
rs3218761
|
0.00765
|
NM_005359.6(SMAD4):c.455-43A>T
|
rs149541014
|
0.00759
|
NM_000051.4(ATM):c.544G>C (p.Val182Leu)
|
rs3218707
|
0.00757
|
NM_001040108.2(MLH3):c.3379+38A>G
|
rs28757009
|
0.00755
|
NM_001142864.4(PIEZO1):c.7529C>T (p.Pro2510Leu)
|
rs61745086
|
0.00748
|
NM_000465.4(BARD1):c.2212A>G (p.Ile738Val)
|
rs61754118
|
0.00745
|
NM_000245.4(MET):c.1085T>C (p.Met362Thr)
|
rs77523018
|
0.00742
|
NM_000245.4(MET):c.390C>T (p.Leu130=)
|
rs150588908
|
0.00740
|
NM_000051.4(ATM):c.3993+48A>G
|
rs3218712
|
0.00736
|
NM_000465.4(BARD1):c.1972C>T (p.Arg658Cys)
|
rs3738888
|
0.00736
|
NM_017763.6(RNF43):c.2261G>C (p.Gly754Ala)
|
rs115553539
|
0.00733
|
NM_002691.4(POLD1):c.3218+9C>T
|
rs3219448
|
0.00727
|
NM_000051.4(ATM):c.4776+41C>T
|
rs114726455
|
0.00726
|
NM_001039569.2(AP1S3):c.97C>T (p.Arg33Trp)
|
rs138292988
|
0.00725
|
NM_144997.7(FLCN):c.1538+14T>G
|
rs112111994
|
0.00721
|
NM_001127511.3(APC):c.-152C>T
|
rs138386816
|
0.00719
|
NM_000051.4(ATM):c.146C>G (p.Ser49Cys)
|
rs1800054
|
0.00712
|
NM_007294.4(BRCA1):c.1971A>G (p.Gln657=)
|
rs28897679
|
0.00707
|
NM_002691.4(POLD1):c.88C>T (p.Arg30Trp)
|
rs3218772
|
0.00706
|
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser)
|
rs34677591
|
0.00706
|
NM_000038.6(APC):c.4326T>A (p.Pro1442=)
|
rs67622085
|
0.00705
|
NM_003001.5(SDHC):c.*84G>C
|
rs201210474
|
0.00703
|
NM_003738.5(PTCH2):c.1073G>A (p.Arg358His)
|
rs139624405
|
0.00701
|
NM_005918.4(MDH2):c.555G>A (p.Lys185=)
|
rs142812282
|
0.00700
|
NM_015450.3(POT1):c.1687-5T>A
|
rs35062732
|
0.00699
|
NM_005359.6(SMAD4):c.1308+33_1308+34del
|
rs201683280
|
0.00695
|
NM_000059.4(BRCA2):c.517-19C>T
|
rs11571623
|
0.00693
|
NM_000075.4(CDK4):c.696G>A (p.Leu232=)
|
rs2227953
|
0.00692
|
NM_177438.3(DICER1):c.4206+9_4206+15del
|
rs199508452
|
0.00691
|
NM_000075.4(CDK4):c.447A>G (p.Thr149=)
|
rs2069501
|
0.00690
|
NM_003002.4(SDHD):c.312C>T (p.His104=)
|
rs61734352
|
0.00690
|
NM_177438.3(DICER1):c.4206+17del
|
rs746189044
|
0.00689
|
NM_001082486.2(ACD):c.923G>A (p.Gly308Glu)
|
rs147189192
|
0.00679
|
NM_003002.4(SDHD):c.149A>G (p.His50Arg)
|
rs11214077
|
0.00679
|
NM_006231.4(POLE):c.1470C>T (p.Asp490=)
|
rs5744777
|
0.00679
|
NM_000038.6(APC):c.5265G>A (p.Ala1755=)
|
rs34506289
|
0.00675
|
NM_002691.4(POLD1):c.2546G>A (p.Arg849His)
|
rs3218775
|
0.00670
|
NM_000051.4(ATM):c.6995T>C (p.Leu2332Pro)
|
rs4988111
|
0.00660
|
NM_000791.4(DHFR):c.-259C>T
|
rs6151597
|
0.00658
|
NM_003001.5(SDHC):c.78-23C>G
|
rs144938556
|
0.00658
|
NM_000051.4(ATM):c.3747-34A>G
|
rs3092840
|
0.00656
|
NM_000059.4(BRCA2):c.5704G>A
|
rs4987048
|
0.00655
|
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala)
|
rs28363317
|
0.00653
|
NM_000051.4(ATM):c.6235G>A (p.Val2079Ile)
|
rs1800060
|
0.00649
|
NM_004655.4(AXIN2):c.2282C>A (p.Ala761Asp)
|
rs79732150
|
0.00649
|
NM_016169.4(SUFU):c.1018G>T (p.Ala340Ser)
|
rs34135067
|
0.00646
|
NM_000051.4(ATM):c.*44A>G
|
rs55900855
|
0.00643
|
NM_000245.4(MET):c.948A>G (p.Ile316Met)
|
rs35225896
|
0.00641
|
NM_000051.4(ATM):c.3383A>G (p.Gln1128Arg)
|
rs2229020
|
0.00636
|
NM_000455.5(STK11):c.369G>A (p.Gln123=)
|
rs140112347
|
0.00636
|
NM_177438.3(DICER1):c.4206+11G>T
|
rs774504706
|
0.00632
|
NM_000121.4(EPOR):c.1460A>G (p.Asn487Ser)
|
rs62638745
|
0.00627
|
NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln)
|
rs45575636
|
0.00625
|
NM_004360.5(CDH1):c.1711+47G>A
|
rs35667437
|
0.00620
|
NM_001430.5(EPAS1):c.2255C>T (p.Pro752Leu)
|
rs113593554
|
0.00614
|
NM_000361.3(THBD):c.1092G>A (p.Glu364=)
|
rs73901577
|
0.00611
|
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr)
|
rs28897727
|
0.00609
|
NM_000051.4(ATM):c.5793T>C (p.Ala1931=)
|
rs3092910
|
0.00608
|
NM_001040108.2(MLH3):c.4243-37_4243-1dup
|
rs56393982
|
0.00607
|
NM_006231.4(POLE):c.776G>A (p.Arg259His)
|
rs61732929
|
0.00604
|
NM_000051.4(ATM):c.*29C>G
|
rs3218711
|
0.00603
|
NM_000051.4(ATM):c.4042T>C (p.Leu1348=)
|
rs56355831
|
0.00599
|
NM_000059.4(BRCA2):c.9257-16T>C
|
rs11571818
|
0.00597
|
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter)
|
rs11571833
|
0.00597
|
NM_000143.4(FH):c.53C>T (p.Pro18Leu)
|
rs201887750
|
0.00597
|
NM_001048174.2(MUTYH):c.1347G>C (p.Thr449=)
|
rs74318065
|
0.00596
|
NM_032043.3(BRIP1):c.206-21T>C
|
rs2048717
|
0.00589
|
NM_000179.3(MSH6):c.3557-40T>A
|
rs189436849
|
0.00587
|
NM_016169.4(SUFU):c.-33C>T
|
rs201649559
|
0.00587
|
NM_000038.6(APC):c.1959G>A (p.Arg653=)
|
rs72541809
|
0.00583
|
NM_000249.4(MLH1):c.589-15C>T
|
rs55658850
|
0.00582
|
NM_177438.3(DICER1):c.5095+13C>T
|
rs116247322
|
0.00577
|
NM_004655.4(AXIN2):c.1060-41T>C
|
rs149089442
|
0.00575
|
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln)
|
rs1801166
|
0.00570
|
NM_000321.3(RB1):c.2521-11G>A
|
rs4151624
|
0.00570
|
NM_000051.4(ATM):c.186-7C>T
|
rs55674039
|
0.00568
|
NM_002067.5(GNA11):c.321+9G>A
|
rs143987260
|
0.00567
|
NM_000179.3(MSH6):c.1186C>G (p.Leu396Val)
|
rs2020908
|
0.00565
|
NM_000535.7(PMS2):c.1569C>G (p.Ser523=)
|
rs141458772
|
0.00560
|
NM_007194.4(CHEK2):c.1343T>G (p.Ile448Ser)
|
rs17886163
|
0.00555
|
NM_002691.4(POLD1):c.2250+46G>C
|
rs138169420
|
0.00553
|
NM_001040108.2(MLH3):c.408T>C (p.Asp136=)
|
rs61755655
|
0.00552
|
NM_001040108.2(MLH3):c.3217G>A (p.Asp1073Asn)
|
rs28756993
|
0.00551
|
NM_006231.4(POLE):c.6494G>A (p.Arg2165His)
|
rs5745068
|
0.00550
|
NM_144997.7(FLCN):c.*17G>T
|
rs115885284
|
0.00549
|
NM_017849.4(TMEM127):c.409+45G>C
|
rs140817879
|
0.00545
|
NM_000059.4(BRCA2):c.-11C>T
|
rs76874770
|
0.00539
|
NM_177438.3(DICER1):c.5241G>A (p.Ser1747=)
|
rs114861074
|
0.00539
|
NM_005359.6(SMAD4):c.*11C>T
|
rs11663402
|
0.00538
|
NM_001082486.2(ACD):c.1207-10C>T
|
rs67185288
|
0.00536
|
NM_003000.3(SDHB):c.766-40C>T
|
rs147408869
|
0.00536
|
NM_001082486.2(ACD):c.801C>T (p.Ala267=)
|
rs72549181
|
0.00530
|
NM_024675.4(PALB2):c.53A>G (p.Lys18Arg)
|
rs138789658
|
0.00530
|
NM_000077.5(CDKN2A):c.379G>T (p.Ala127Ser)
|
rs6413464
|
0.00527
|
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu)
|
rs72553883
|
0.00518
|
NM_000051.4(ATM):c.6088A>G (p.Ile2030Val)
|
rs145847315
|
0.00517
|
NM_007294.4(BRCA1):c.5406+8T>C
|
rs55946644
|
0.00514
|
NM_004360.5(CDH1):c.1712-37T>G
|
rs35831514
|
0.00513
|
NM_006231.4(POLE):c.6763A>T (p.Ile2255Phe)
|
rs73155056
|
0.00513
|
NM_058216.3(RAD51C):c.572-17G>T
|
rs193023469
|
0.00513
|
NM_000038.6(APC):c.1958+8T>C
|
rs62626346
|
0.00510
|
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)
|
rs104895094
|
0.00506
|
NM_000038.6(APC):c.532-32T>C
|
rs112108777
|
0.00505
|
NM_006231.4(POLE):c.1359+9G>A
|
rs75135381
|
0.00498
|
NM_000038.6(APC):c.5250C>G (p.Val1750=)
|
rs2229997
|
0.00497
|
NM_001040108.2(MLH3):c.3987+15C>T
|
rs117251698
|
0.00496
|
NM_000251.3(MSH2):c.984C>T (p.Ala328=)
|
rs4987189
|
0.00495
|
NM_001127511.3(APC):c.-181C>T
|
rs115658307
|
0.00491
|
NM_000535.7(PMS2):c.2445+30A>G
|
rs549704870
|
0.00490
|
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=)
|
rs28897734
|
0.00488
|
NM_002691.4(POLD1):c.1275C>T (p.Ala425=)
|
rs3219392
|
0.00486
|
NM_002386.4(MC1R):c.425G>A (p.Arg142His)
|
rs11547464
|
0.00480
|
NM_032043.3(BRIP1):c.2236A>G (p.Ile746Val)
|
rs111536363
|
0.00480
|
NM_000546.6(TP53):c.672+31A>G
|
rs34949160
|
0.00479
|
NM_000251.3(MSH2):c.1666T>C (p.Leu556=)
|
rs61756466
|
0.00471
|
NM_001082486.2(ACD):c.494-20C>T
|
rs59443695
|
0.00465
|
NM_007294.4(BRCA1):c.5468-10C>A
|
rs8176316
|
0.00464
|
NM_003000.3(SDHB):c.24C>T (p.Ser8=)
|
rs148738139
|
0.00461
|
NM_002691.4(POLD1):c.589+31del
|
rs572354560
|
0.00459
|
NM_000638.4(VTN):c.377A>T (p.Glu126Val)
|
rs112887300
|
0.00458
|
NM_002878.4(RAD51D):c.695G>A (p.Arg232Gln)
|
rs28363283
|
0.00457
|
NM_000465.4(BARD1):c.1738G>A (p.Glu580Lys)
|
rs35306212
|
0.00455
|
NM_001430.5(EPAS1):c.1121T>A (p.Phe374Tyr)
|
rs150797491
|
0.00455
|
NM_006231.4(POLE):c.1359+18C>T
|
rs5744775
|
0.00455
|
NM_003001.5(SDHC):c.354T>C (p.Phe118=)
|
rs61733156
|
0.00454
|
NM_013372.7(GREM1):c.-111G>A
|
rs556187651
|
0.00452
|
NM_024675.4(PALB2):c.2794G>A (p.Val932Met)
|
rs45624036
|
0.00449
|
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala)
|
rs2020912
|
0.00448
|
NM_006231.4(POLE):c.6817A>T (p.Thr2273Ser)
|
rs73481453
|
0.00444
|
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val)
|
rs1801673
|
0.00441
|
NM_006231.4(POLE):c.6658-38C>T
|
rs144237037
|
0.00436
|
NM_000179.3(MSH6):c.457+13A>G
|
rs1800933
|
0.00434
|
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)
|
rs17879961
|
0.00434
|
NM_004656.4(BAP1):c.2057-4G>T
|
rs149499021
|
0.00433
|
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser)
|
rs2227922
|
0.00431
|
NM_000791.4(DHFR):c.-411G>A
|
rs201149584
|
0.00430
|
NM_004168.4(SDHA):c.969C>T (p.Gly323=)
|
rs142849100
|
0.00430
|
NM_000051.4(ATM):c.5762+27G>A
|
rs3218686
|
0.00428
|
NM_000186.4(CFH):c.2850G>T (p.Gln950His)
|
rs149474608
|
0.00425
|
NM_000051.4(ATM):c.6437G>C (p.Ser2146Thr)
|
rs56815840
|
0.00424
|
NM_000249.4(MLH1):c.545+20A>T
|
rs121909453
|
0.00424
|
NM_001042492.3(NF1):c.7738+46G>A
|
rs199641099
|
0.00422
|
NM_000245.4(MET):c.504G>T (p.Glu168Asp)
|
rs55985569
|
0.00420
|
NM_000051.4(ATM):c.2250+22A>C
|
rs3218692
|
0.00419
|
NM_000051.4(ATM):c.2250+34A>C
|
rs3218705
|
0.00419
|
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly)
|
rs28897689
|
0.00419
|
NM_001142864.4(PIEZO1):c.2423G>A (p.Arg808Gln)
|
rs202103485
|
0.00418
|
NM_000051.4(ATM):c.5005+18G>A
|
rs76290788
|
0.00414
|
NM_000249.4(MLH1):c.453+25A>G
|
rs4647246
|
0.00414
|
NM_000518.4(HBB):c.19G>A (p.Glu7Lys)
|
rs33930165
|
0.00414
|
NM_001142864.4(PIEZO1):c.2344G>A (p.Gly782Ser)
|
rs200970763
|
0.00414
|
NM_001903.5(CTNNA1):c.618G>C (p.Gln206His)
|
rs150893072
|
0.00414
|
NM_000038.6(APC):c.933+30A>G
|
rs145211300
|
0.00412
|
NM_003000.3(SDHB):c.-37T>C
|
rs143031690
|
0.00411
|
NM_001099274.3(TINF2):c.1092G>A (p.Leu364=)
|
rs184422577
|
0.00410
|
NM_002439.5(MSH3):c.2254-19T>G
|
rs41562717
|
0.00405
|
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)
|
rs34557412
|
0.00403
|
NM_000249.4(MLH1):c.1852A>G (p.Lys618Glu)
|
rs35001569
|
0.00399
|
NM_002878.4(RAD51D):c.873C>T (p.Arg291=)
|
rs140848654
|
0.00399
|
NM_000249.4(MLH1):c.307-29C>A
|
rs139620056
|
0.00398
|
NM_000251.3(MSH2):c.1662-9G>A
|
rs17218356
|
0.00398
|
NM_004360.5(CDH1):c.532-18C>T
|
rs200673941
|
0.00398
|
NM_000059.4(BRCA2):c.6347A>G (p.His2116Arg)
|
rs55953736
|
0.00396
|
NM_004655.4(AXIN2):c.2109G>A (p.Arg703=)
|
rs116525755
|
0.00396
|
NM_004655.4(AXIN2):c.1410C>T (p.His470=)
|
rs149483825
|
0.00394
|
NM_001379610.1(SPINK1):c.163C>T (p.Pro55Ser)
|
rs111966833
|
0.00389
|
NM_000051.4(ATM):c.1176C>G (p.Gly392=)
|
rs1800727
|
0.00388
|
NM_002691.4(POLD1):c.1384-35A>G
|
rs115643912
|
0.00387
|
NM_002691.4(POLD1):c.*27G>A
|
rs3218766
|
0.00385
|
NM_004168.4(SDHA):c.456+20G>C
|
rs193283468
|
0.00385
|
NM_000038.6(APC):c.729+23T>C
|
rs75111475
|
0.00381
|
NM_001042492.3(NF1):c.-22G>C
|
rs556823296
|
0.00381
|
NM_000051.4(ATM):c.5005+21_5005+22insGC
|
rs547799081
|
0.00378
|
NM_018975.4(TERF2IP):c.796-41C>G
|
rs183325553
|
0.00378
|
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln)
|
rs41276738
|
0.00377
|
NM_004656.4(BAP1):c.1838C>T (p.Thr613Met)
|
rs35448940
|
0.00377
|
NM_004656.4(BAP1):c.783G>A (p.Gln261=)
|
rs35003777
|
0.00377
|
NM_000535.7(PMS2):c.1609G>A (p.Glu537Lys)
|
rs115052399
|
0.00370
|
NM_173648.4(CCDC141):c.2299G>A (p.Asp767Asn)
|
rs141939661
|
0.00367
|
NM_002528.7(NTHL1):c.116-10C>G
|
rs3211970
|
0.00366
|
NM_004064.5(CDKN1B):c.426G>A (p.Thr142=)
|
rs149775942
|
0.00366
|
NM_004656.4(BAP1):c.1729+8T>C
|
rs150945583
|
0.00364
|
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu)
|
rs77931234
|
0.00363
|
NM_000051.4(ATM):c.5497-15G>C
|
rs3092828
|
0.00363
|
NM_032043.3(BRIP1):c.517C>T (p.Arg173Cys)
|
rs4988345
|
0.00363
|
NM_000038.6(APC):c.7862C>G (p.Ser2621Cys)
|
rs72541816
|
0.00358
|
NM_000059.4(BRCA2):c.2960A>T (p.Asn987Ile)
|
rs2227944
|
0.00356
|
NM_000059.4(BRCA2):c.2786T>C (p.Leu929Ser)
|
rs2227943
|
0.00355
|
NM_001042492.3(NF1):c.2252-31A>T
|
rs141082540
|
0.00355
|
NM_058216.3(RAD51C):c.376G>A (p.Ala126Thr)
|
rs61758784
|
0.00349
|
NM_000455.5(STK11):c.1062C>G (p.Phe354Leu)
|
rs59912467
|
0.00348
|
NM_000535.7(PMS2):c.1266G>A (p.Glu422=)
|
rs138049175
|
0.00348
|
NM_001042492.3(NF1):c.6148-30T>A
|
rs199874130
|
0.00348
|
NM_004360.5(CDH1):c.2439+22C>T
|
rs34751606
|
0.00346
|
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)
|
rs36053993
|
0.00341
|
NM_000075.4(CDK4):c.354+48T>C
|
rs147481248
|
0.00340
|
NM_000303.3(PMM2):c.422G>A (p.Arg141His)
|
rs28936415
|
0.00338
|
NM_004064.5(CDKN1B):c.577C>T (p.Leu193Phe)
|
rs73281150
|
0.00338
|
NM_001430.5(EPAS1):c.574-11G>A
|
rs199730851
|
0.00336
|
NM_004360.5(CDH1):c.833-16C>G
|
rs33984587
|
0.00332
|
NM_000088.4(COL1A1):c.613C>G (p.Pro205Ala)
|
rs72667032
|
0.00331
|
NM_000245.4(MET):c.-14-4G>A
|
rs144126521
|
0.00331
|
NM_002439.5(MSH3):c.1896+18C>T
|
rs150904071
|
0.00330
|
NM_001099274.3(TINF2):c.1236C>T (p.Asn412=)
|
rs117234138
|
0.00329
|
NM_004656.4(BAP1):c.1891-30G>C
|
rs146661777
|
0.00328
|
NM_004656.4(BAP1):c.660-26T>A
|
rs139414598
|
0.00328
|
NM_000245.4(MET):c.2908C>T (p.Arg970Cys)
|
rs34589476
|
0.00327
|
NM_177438.3(DICER1):c.1509+32A>G
|
rs144973109
|
0.00326
|
NM_006231.4(POLE):c.4259C>T (p.Ala1420Val)
|
rs41561818
|
0.00325
|
NM_001040108.2(MLH3):c.3315C>A (p.Asp1105Glu)
|
rs28757008
|
0.00323
|
NM_000094.4(COL7A1):c.6654C>G (p.Gly2218=)
|
rs151111203
|
0.00322
|
NM_021175.4(HAMP):c.92C>T (p.Thr31Met)
|
rs146776859
|
0.00322
|
NM_058216.3(RAD51C):c.186A>G (p.Gln62=)
|
rs28363303
|
0.00322
|
NM_006231.4(POLE):c.123G>A (p.Thr41=)
|
rs5744734
|
0.00320
|
NM_006231.4(POLE):c.3459+22C>T
|
rs5744887
|
0.00320
|
NM_020975.6(RET):c.1063+47G>A
|
rs372177579
|
0.00315
|
NM_000251.3(MSH2):c.339G>A (p.Lys113=)
|
rs35898375
|
0.00313
|
NM_006231.4(POLE):c.779G>A (p.Arg260Gln)
|
rs5744752
|
0.00312
|
NM_024675.4(PALB2):c.1572A>G (p.Ser524=)
|
rs45472400
|
0.00312
|
NM_000336.3(SCNN1B):c.777-5T>C
|
rs61759915
|
0.00311
|
NM_004360.5(CDH1):c.1774G>A (p.Ala592Thr)
|
rs35187787
|
0.00311
|
NM_004656.4(BAP1):c.1002A>G (p.Leu334=)
|
rs28997577
|
0.00310
|
NM_020975.6(RET):c.166C>A (p.Leu56Met)
|
rs145633958
|
0.00310
|
NM_024675.4(PALB2):c.1419A>C (p.Pro473=)
|
rs62625275
|
0.00309
|
NM_000038.6(APC):c.3471G>A (p.Glu1157=)
|
rs143927847
|
0.00308
|
NM_000059.4(BRCA2):c.3869G>A (p.Cys1290Tyr)
|
rs41293485
|
0.00307
|
NM_001042492.3(NF1):c.5235G>A (p.Lys1745=)
|
rs17887014
|
0.00305
|
NM_002528.7(NTHL1):c.113C>T (p.Ala38Val)
|
rs202082304
|
0.00305
|
NM_032043.3(BRIP1):c.577G>A (p.Val193Ile)
|
rs4988346
|
0.00305
|
NM_004656.4(BAP1):c.1026C>T (p.Ser342=)
|
rs71651686
|
0.00304
|
NM_015450.3(POT1):c.903G>T (p.Gln301His)
|
rs116916706
|
0.00304
|
NM_000179.3(MSH6):c.458-39C>T
|
rs142060571
|
0.00302
|
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr)
|
rs55688530
|
0.00301
|
NM_000051.4(ATM):c.6007-44G>A
|
rs185700860
|
0.00300
|
NM_001048174.2(MUTYH):c.1103-27C>T
|
rs3219490
|
0.00300
|
NM_005918.4(MDH2):c.415G>A (p.Val139Ile)
|
rs111879470
|
0.00300
|
NM_004655.4(AXIN2):c.1530G>A (p.Thr510=)
|
rs141014640
|
0.00299
|
NM_006231.4(POLE):c.6658-25G>A
|
rs5745080
|
0.00299
|
NM_025077.4(TOE1):c.-45G>A
|
rs2275602
|
0.00299
|
NM_000249.4(MLH1):c.1963A>G (p.Ile655Val)
|
rs55907433
|
0.00297
|
NM_002691.4(POLD1):c.783C>T (p.Val261=)
|
rs34269084
|
0.00296
|
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=)
|
rs28897724
|
0.00295
|
NM_002691.4(POLD1):c.778A>G (p.Ile260Val)
|
rs8105725
|
0.00295
|
NM_006231.4(POLE):c.16G>C (p.Gly6Arg)
|
rs202220778
|
0.00293
|
NM_002691.4(POLD1):c.1977C>T (p.Ile659=)
|
rs45605236
|
0.00290
|
NM_000059.4(BRCA2):c.5640T>G (p.Asn1880Lys)
|
rs11571657
|
0.00288
|
NM_000051.4(ATM):c.3993+5G>T
|
rs3092842
|
0.00287
|
NM_001199138.2(NLRC4):c.2357G>T (p.Gly786Val)
|
rs149451729
|
0.00287
|
NM_024675.4(PALB2):c.2590C>T (p.Pro864Ser)
|
rs45568339
|
0.00287
|
NM_000038.6(APC):c.3165A>T (p.Ile1055=)
|
rs61734287
|
0.00286
|
NM_006231.4(POLE):c.6820C>G (p.Leu2274Val)
|
rs148788180
|
0.00284
|
NM_018975.4(TERF2IP):c.795+39C>T
|
rs140028318
|
0.00283
|
NM_000301.5(PLG):c.112A>G (p.Lys38Glu)
|
rs73015965
|
0.00282
|
NM_000264.5(PTCH1):c.109G>C (p.Gly37Arg)
|
rs199976372
|
0.00281
|
NM_006231.4(POLE):c.-29C>G
|
rs571026345
|
0.00281
|
NM_005359.6(SMAD4):c.249+24A>G
|
rs77389132
|
0.00278
|
NM_000059.4(BRCA2):c.68-7T>A
|
rs81002830
|
0.00277
|
NM_144997.7(FLCN):c.1177-21G>A
|
rs150687840
|
0.00276
|
NM_000077.5(CDKN2A):c.174A>C (p.Arg58=)
|
rs201208890
|
0.00273
|
NM_000059.4(BRCA2):c.4241C>T (p.Thr1414Met)
|
rs70953664
|
0.00272
|
NM_000038.6(APC):c.4360A>G (p.Lys1454Glu)
|
rs111866410
|
0.00271
|
NM_032043.3(BRIP1):c.2097+7G>A
|
rs4988352
|
0.00271
|
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp)
|
rs116100695
|
0.00270
|
NM_002439.5(MSH3):c.2511G>A (p.Leu837=)
|
rs149628160
|
0.00270
|
NM_007194.4(CHEK2):c.592+50A>T
|
rs17881298
|
0.00270
|
NM_000038.6(APC):c.4893T>C (p.Ser1631=)
|
rs35634377
|
0.00268
|
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys)
|
rs1799954
|
0.00268
|
NM_005359.6(SMAD4):c.354G>A (p.Ala118=)
|
rs145988618
|
0.00268
|
NM_006231.4(POLE):c.2468+31T>C
|
rs5744824
|
0.00268
|
NM_000314.8(PTEN):c.-165C>G
|
rs575260016
|
0.00267
|
NM_000051.4(ATM):c.2362A>C (p.Ser788Arg)
|
rs641252
|
0.00265
|
NM_004655.4(AXIN2):c.2406-32T>C
|
rs200075109
|
0.00263
|
NM_000551.4(VHL):c.74C>T (p.Pro25Leu)
|
rs35460768
|
0.00261
|
NM_004360.5(CDH1):c.1680G>C (p.Thr560=)
|
rs35741240
|
0.00261
|
NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His)
|
rs35029074
|
0.00260
|
NM_017763.6(RNF43):c.582+30C>T
|
rs79125070
|
0.00260
|
NM_013372.7(GREM1):c.103C>G (p.Pro35Ala)
|
rs111262341
|
0.00259
|
NM_004329.3(BMPR1A):c.618A>G (p.Leu206=)
|
rs55992440
|
0.00257
|
NM_004656.4(BAP1):c.1250+42G>A
|
rs150454901
|
0.00257
|
NM_000038.6(APC):c.3264G>A (p.Lys1088=)
|
rs114774495
|
0.00255
|
NM_004360.5(CDH1):c.324A>G (p.Arg108=)
|
rs116542018
|
0.00255
|
NM_001903.5(CTNNA1):c.1748-16G>C
|
rs187293176
|
0.00254
|
NM_000179.3(MSH6):c.3911G>A (p.Arg1304Lys)
|
rs34625968
|
0.00253
|
NM_002691.4(POLD1):c.433G>A (p.Ala145Thr)
|
rs137953986
|
0.00253
|
NM_007294.4(BRCA1):c.4987-20A>G
|
rs80358035
|
0.00252
|
NM_001082486.2(ACD):c.819C>T (p.Pro273=)
|
rs138740815
|
0.00251
|
NM_000038.6(APC):c.3386T>C (p.Leu1129Ser)
|
rs143638171
|
0.00250
|
NM_006231.4(POLE):c.3583-31T>C
|
rs5744899
|
0.00250
|
NM_017763.6(RNF43):c.1010G>A (p.Arg337Gln)
|
rs138844366
|
0.00248
|
NM_000245.4(MET):c.2584-23T>A
|
rs201491944
|
0.00247
|
NM_004656.4(BAP1):c.2057-22A>C
|
rs144083199
|
0.00246
|
NM_000051.4(ATM):c.2921+19dup
|
rs56112367
|
0.00245
|
NM_006231.4(POLE):c.4149+42C>T
|
rs139763727
|
0.00245
|
NM_000065.5(C6):c.2381+2T>C
|
rs76202909
|
0.00242
|
NM_000245.4(MET):c.2365-21G>C
|
rs140853140
|
0.00242
|
NM_000535.7(PMS2):c.2275+42T>C
|
rs181380255
|
0.00242
|
NM_144997.7(FLCN):c.779+50G>T
|
rs112496006
|
0.00242
|
NM_006231.4(POLE):c.4184A>G (p.Tyr1395Cys)
|
rs5744933
|
0.00240
|
NM_006231.4(POLE):c.51C>G (p.Gly17=)
|
rs780436496
|
0.00240
|
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile)
|
rs1800744
|
0.00240
|
NM_177438.3(DICER1):c.1377-4T>G
|
rs192490028
|
0.00240
|
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile)
|
rs28897749
|
0.00239
|
NM_000179.3(MSH6):c.4002-28_4002-26dup
|
rs200989473
|
0.00238
|
NM_000179.3(MSH6):c.3439-16C>T
|
rs192614006
|
0.00237
|
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys)
|
rs1800386
|
0.00237
|
NM_021098.3(CACNA1H):c.6418G>A (p.Ala2140Thr)
|
rs59487037
|
0.00237
|
NM_000264.5(PTCH1):c.3804+32T>C
|
rs199982439
|
0.00236
|
NM_004360.5(CDH1):c.345G>A (p.Thr115=)
|
rs1801023
|
0.00236
|
NM_004656.4(BAP1):c.123-48T>G
|
rs143273211
|
0.00235
|
NM_007194.4(CHEK2):c.593-14C>T
|
rs145754558
|
0.00235
|
NM_002439.5(MSH3):c.2732T>G (p.Leu911Trp)
|
rs41545019
|
0.00233
|
NM_007294.4(BRCA1):c.114G>A (p.Lys38=)
|
rs1800062
|
0.00233
|
NM_000051.4(ATM):c.8011-38A>G
|
rs200440370
|
0.00232
|
NM_003000.3(SDHB):c.170A>G (p.His57Arg)
|
rs35962811
|
0.00231
|
NM_000465.4(BARD1):c.1977A>G (p.Arg659=)
|
rs147215925
|
0.00230
|
NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=)
|
rs1799952
|
0.00228
|
NM_005359.6(SMAD4):c.1086T>C (p.Phe362=)
|
rs1801250
|
0.00228
|
NM_133510.4(RAD51B):c.619G>T (p.Val207Leu)
|
rs28908168
|
0.00228
|
NM_001903.5(CTNNA1):c.2013G>A (p.Ala671=)
|
rs28363488
|
0.00226
|
NM_021870.3(FGG):c.323C>G (p.Ala108Gly)
|
rs148685782
|
0.00222
|
NM_002439.5(MSH3):c.1571A>C (p.Asn524Thr)
|
rs55724159
|
0.00220
|
NM_017763.6(RNF43):c.380G>A (p.Arg127Gln)
|
rs35219874
|
0.00220
|
NM_001040108.2(MLH3):c.3987+7C>A
|
rs28757028
|
0.00219
|
NM_000465.4(BARD1):c.620A>G (p.Lys207Arg)
|
rs34969857
|
0.00218
|
NM_000376.3(VDR):c.933G>A (p.Glu311=)
|
rs150775215
|
0.00217
|
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr)
|
rs41419545
|
0.00217
|
NM_002067.5(GNA11):c.322-49A>C
|
rs186707232
|
0.00216
|
NM_000051.4(ATM):c.370A>G (p.Ile124Val)
|
rs148590073
|
0.00215
|
NM_000038.6(APC):c.705A>G (p.Leu235=)
|
rs147036141
|
0.00213
|
NM_001430.5(EPAS1):c.2457G>A (p.Val819=)
|
rs149994721
|
0.00213
|
NM_000077.5(CDKN2A):c.150+37G>C
|
rs45456595
|
0.00212
|
NM_002354.3(EPCAM):c.*16A>G
|
rs147650232
|
0.00212
|
NM_000085.5(CLCNKB):c.171G>A (p.Gly57=)
|
rs150723240
|
0.00210
|
NM_177438.3(DICER1):c.4206+23del
|
rs762786263
|
0.00210
|
NM_007294.4(BRCA1):c.2167A>G (p.Asn723Asp)
|
rs4986845
|
0.00209
|
NM_139027.6(ADAMTS13):c.1370C>T (p.Pro457Leu)
|
rs36220240
|
0.00209
|
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser)
|
rs147241704
|
0.00207
|
NM_015450.3(POT1):c.924A>G (p.Gln308=)
|
rs34398311
|
0.00206
|
NM_006231.4(POLE):c.5334C>T (p.Ala1778=)
|
rs11146986
|
0.00205
|
NM_000059.4(BRCA2):c.7150C>A (p.Gln2384Lys)
|
rs55977008
|
0.00203
|
NM_000535.7(PMS2):c.2182A>G (p.Thr728Ala)
|
rs141893001
|
0.00203
|
NM_001354604.2(MITF):c.880+9C>G
|
rs181810413
|
0.00203
|
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro)
|
rs11571746
|
0.00202
|
NM_024675.4(PALB2):c.1810C>T (p.Leu604=)
|
rs144015319
|
0.00202
|
NM_000251.3(MSH2):c.*226A>G
|
rs17225060
|
0.00201
|
NM_001354604.2(MITF):c.366C>T (p.His122=)
|
rs140663277
|
0.00201
|
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu)
|
rs17883862
|
0.00201
|
NM_177438.3(DICER1):c.4206+9_4206+21del
|
rs746597527
|
0.00201
|
NM_000051.4(ATM):c.162T>C (p.Tyr54=)
|
rs3218690
|
0.00200
|
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys)
|
rs121918007
|
0.00200
|
NM_001903.5(CTNNA1):c.589-5T>C
|
rs186236339
|
0.00200
|
NM_001040108.2(MLH3):c.3644-13C>T
|
rs189760727
|
0.00199
|
NM_001358263.1(HK1):c.75+20082A>G
|
rs187500777
|
0.00198
|
NM_001040108.2(MLH3):c.2425A>G (p.Met809Val)
|
rs61752722
|
0.00197
|
NM_002691.4(POLD1):c.56G>A (p.Arg19His)
|
rs3218773
|
0.00197
|
NM_032043.3(BRIP1):c.584T>C (p.Leu195Pro)
|
rs4988347
|
0.00197
|
NM_024529.5(CDC73):c.*12C>A
|
rs193025205
|
0.00196
|
NM_000051.4(ATM):c.8269-14A>T
|
rs114320959
|
0.00195
|
NM_001042492.3(NF1):c.5035A>G (p.Ile1679Val)
|
rs147327414
|
0.00195
|
NM_000388.4(CASR):c.2730C>A (p.Pro910=)
|
rs34200949
|
0.00194
|
NM_002439.5(MSH3):c.1887T>C (p.Tyr629=)
|
rs139201310
|
0.00193
|
NM_024675.4(PALB2):c.2256A>G (p.Gly752=)
|
rs147120218
|
0.00193
|
NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn)
|
rs143340522
|
0.00192
|
NM_004329.3(BMPR1A):c.777G>A (p.Ala259=)
|
rs56108371
|
0.00192
|
NM_000059.4(BRCA2):c.231T>G (p.Thr77=)
|
rs114446594
|
0.00191
|
NM_002354.3(EPCAM):c.859-6A>G
|
rs150307203
|
0.00191
|
NM_002439.5(MSH3):c.2480A>G (p.His827Arg)
|
rs138339194
|
0.00191
|
NM_032043.3(BRIP1):c.2493-50G>T
|
rs142108255
|
0.00191
|
NM_000551.4(VHL):c.340+5G>C
|
rs61758376
|
0.00190
|
NM_007194.4(CHEK2):c.1407G>A (p.Val469=)
|
rs17881378
|
0.00190
|
NM_000245.4(MET):c.1715G>A (p.Ser572Asn)
|
rs199771406
|
0.00188
|
NM_000249.4(MLH1):c.790+10A>G
|
rs182733777
|
0.00188
|
NM_002691.4(POLD1):c.378C>T (p.Arg126=)
|
rs145324823
|
0.00188
|
NM_000051.4(ATM):c.1229T>C (p.Val410Ala)
|
rs56128736
|
0.00186
|
NM_021098.3(CACNA1H):c.6717C>T (p.Gly2239=)
|
rs143733790
|
0.00186
|
NM_000251.3(MSH2):c.23C>T (p.Thr8Met)
|
rs17217716
|
0.00184
|
NM_033629.6(TREX1):c.797A>G (p.Glu266Gly)
|
rs55999987
|
0.00184
|
NM_000791.4(DHFR):c.-367T>C
|
rs141080879
|
0.00183
|
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala)
|
rs28897710
|
0.00182
|
NM_000535.7(PMS2):c.23+10G>C
|
rs192027828
|
0.00182
|
NM_003001.5(SDHC):c.*78G>A
|
rs182629842
|
0.00182
|
NM_007194.4(CHEK2):c.1100del (p.Thr367fs)
|
rs555607708
|
0.00181
|
NM_004168.4(SDHA):c.1911C>T (p.Val637=)
|
rs11557098
|
0.00180
|
NM_177438.3(DICER1):c.1825G>T (p.Asp609Tyr)
|
rs114947750
|
0.00180
|
NM_000075.4(CDK4):c.355-48G>C
|
rs3211614
|
0.00179
|
NM_003000.3(SDHB):c.423+20T>A
|
rs190139590
|
0.00179
|
NM_004655.4(AXIN2):c.2272G>A (p.Ala758Thr)
|
rs145007501
|
0.00179
|
NM_006231.4(POLE):c.2561+6T>C
|
rs116231808
|
0.00179
|
NM_001903.5(CTNNA1):c.1845C>T (p.Ser615=)
|
rs150965493
|
0.00178
|
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe)
|
rs77724903
|
0.00178
|
NM_000249.4(MLH1):c.1039-33_1039-31del
|
rs759939526
|
0.00177
|
NM_000314.8(PTEN):c.210-39A>G
|
rs370918174
|
0.00177
|
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu)
|
rs116373169
|
0.00177
|
NM_000465.4(BARD1):c.33G>T (p.Gln11His)
|
rs143914387
|
0.00176
|
NM_002691.4(POLD1):c.773C>T (p.Thr258Met)
|
rs76131127
|
0.00176
|
NM_177438.3(DICER1):c.3972G>A (p.Lys1324=)
|
rs45562437
|
0.00174
|
NM_001126049.2(KLLN):c.339_340del (p.Ala115fs)
|
rs749052307
|
0.00173
|
NM_032043.3(BRIP1):c.2286T>C (p.Arg762=)
|
rs61754141
|
0.00173
|
NM_001040108.2(MLH3):c.735C>T (p.Tyr245=)
|
rs111782152
|
0.00172
|
NM_001040108.2(MLH3):c.1939C>T (p.Arg647Cys)
|
rs28756987
|
0.00171
|
NM_177438.3(DICER1):c.2115T>C (p.Ile705=)
|
rs140087741
|
0.00171
|
NM_000059.4(BRCA2):c.1798T>C (p.Tyr600His)
|
rs75419644
|
0.00170
|
NM_006231.4(POLE):c.4523G>A (p.Arg1508His)
|
rs142508245
|
0.00170
|
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg)
|
rs1800059
|
0.00169
|
NM_004655.4(AXIN2):c.1713-18G>A
|
rs147664289
|
0.00169
|
NM_000314.8(PTEN):c.132C>T (p.Gly44=)
|
rs150651961
|
0.00168
|
NM_001040108.2(MLH3):c.-4T>G
|
rs28756977
|
0.00168
|
NM_001040108.2(MLH3):c.1799G>A (p.Arg600Gln)
|
rs28756984
|
0.00168
|
NM_001040108.2(MLH3):c.2167G>A (p.Val723Ile)
|
rs28756989
|
0.00168
|
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)
|
rs34612342
|
0.00168
|
NM_006231.4(POLE):c.6453C>T (p.Tyr2151=)
|
rs116076060
|
0.00167
|
NM_000051.4(ATM):c.609C>T (p.Asp203=)
|
rs144709948
|
0.00166
|
NM_001099274.3(TINF2):c.74G>C (p.Gly25Ala)
|
rs202093758
|
0.00166
|
NM_000051.4(ATM):c.7788+8G>T
|
rs112775908
|
0.00165
|
NM_004655.4(AXIN2):c.1200+19T>C
|
rs116931989
|
0.00165
|
NM_007294.4(BRCA1):c.21C>T (p.Arg7=)
|
rs149402012
|
0.00165
|
NM_177438.3(DICER1):c.20A>G (p.Gln7Arg)
|
rs117358479
|
0.00165
|
NM_000249.4(MLH1):c.885-24T>A
|
rs201594027
|
0.00164
|
NM_001082486.2(ACD):c.459-27T>C
|
rs187847017
|
0.00164
|
NM_177438.3(DICER1):c.4515T>C (p.Ser1505=)
|
rs141308332
|
0.00164
|
NM_000388.4(CASR):c.748G>A (p.Glu250Lys)
|
rs62269092
|
0.00163
|
NM_004655.4(AXIN2):c.1200+18T>G
|
rs117258157
|
0.00163
|
NM_144997.7(FLCN):c.618+23G>A
|
rs201373940
|
0.00162
|
NM_003126.4(SPTA1):c.7104G>T (p.Lys2368Asn)
|
rs112884419
|
0.00161
|
NM_017763.6(RNF43):c.662G>A (p.Arg221Gln)
|
rs2285990
|
0.00161
|
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys)
|
rs149617956
|
0.00160
|
NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu)
|
rs138213197
|
0.00160
|
NM_177438.3(DICER1):c.1753-43G>A
|
rs74899136
|
0.00160
|
NM_000251.3(MSH2):c.1277-8T>C
|
rs145400590
|
0.00159
|
NM_002691.4(POLD1):c.80A>T (p.Asp27Val)
|
rs150066950
|
0.00159
|
NM_004360.5(CDH1):c.2292C>T (p.Asp764=)
|
rs61747636
|
0.00159
|
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys)
|
rs4987046
|
0.00158
|
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala)
|
rs11571747
|
0.00158
|
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile)
|
rs3211299
|
0.00158
|
NM_000245.4(MET):c.1528-38A>T
|
rs574459492
|
0.00158
|
NM_000245.4(MET):c.1528-39T>A
|
rs556216308
|
0.00158
|
NM_007294.4(BRCA1):c.1137T>G (p.Ile379Met)
|
rs56128296
|
0.00158
|
NM_177438.3(DICER1):c.2650+13del
|
rs528577189
|
0.00158
|
NM_000143.4(FH):c.1236+14C>T
|
rs149241949
|
0.00157
|
NM_003000.3(SDHB):c.300T>C (p.Ser100=)
|
rs11541235
|
0.00157
|
NM_002528.7(NTHL1):c.503T>C (p.Ile168Thr)
|
rs1805378
|
0.00155
|
NM_004360.5(CDH1):c.164-45T>C
|
rs189978842
|
0.00155
|
NM_000245.4(MET):c.654G>A (p.Arg218=)
|
rs35284565
|
0.00153
|
NM_000465.4(BARD1):c.2282G>A (p.Ser761Asn)
|
rs142155101
|
0.00153
|
NM_001903.5(CTNNA1):c.536C>T (p.Ala179Val)
|
rs28363394
|
0.00153
|
NM_004329.3(BMPR1A):c.1299C>T (p.Phe433=)
|
rs150946485
|
0.00153
|
NM_002691.4(POLD1):c.971-4G>A
|
rs200144991
|
0.00152
|
NM_007194.4(CHEK2):c.444+24C>T
|
rs121908699
|
0.00150
|
NM_007294.4(BRCA1):c.4113G>A (p.Gly1371=)
|
rs147448807
|
0.00150
|
NM_006231.4(POLE):c.5124C>T (p.Phe1708=)
|
rs114891564
|
0.00149
|
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala)
|
rs28940579
|
0.00147
|
NM_004656.4(BAP1):c.*37G>A
|
rs139307137
|
0.00147
|
NM_007294.4(BRCA1):c.2109A>G (p.Thr703=)
|
rs4986844
|
0.00147
|
NM_000038.6(APC):c.8068G>A (p.Ala2690Thr)
|
rs140868933
|
0.00146
|
NM_000059.4(BRCA2):c.3515C>T (p.Ser1172Leu)
|
rs80358600
|
0.00146
|
NM_017763.6(RNF43):c.1007G>A (p.Gly336Asp)
|
rs199598395
|
0.00146
|
NM_004360.5(CDH1):c.2440-6C>G
|
rs139757930
|
0.00145
|
NM_007294.4(BRCA1):c.4600G>A (p.Val1534Met)
|
rs55815649
|
0.00145
|
NM_000038.6(APC):c.6921G>A (p.Ser2307=)
|
rs2229993
|
0.00143
|
NM_000249.4(MLH1):c.2146G>A (p.Val716Met)
|
rs35831931
|
0.00143
|
NM_000251.3(MSH2):c.1387-8G>T
|
rs187525243
|
0.00143
|
NM_002439.5(MSH3):c.1992G>A (p.Gln664=)
|
rs144019582
|
0.00143
|
NM_004360.5(CDH1):c.1272C>T (p.Val424=)
|
rs61756284
|
0.00143
|
NM_024675.4(PALB2):c.2742C>T (p.Phe914=)
|
rs115759702
|
0.00143
|
NM_000535.7(PMS2):c.2395C>T (p.Arg799Trp)
|
rs149202766
|
0.00142
|
NM_002691.4(POLD1):c.2967G>A (p.Thr989=)
|
rs3218752
|
0.00142
|
NM_002691.4(POLD1):c.2577C>T (p.Gly859=)
|
rs149366027
|
0.00140
|
NM_000051.4(ATM):c.1066-6T>G
|
rs201686625
|
0.00139
|
NM_000143.4(FH):c.905-39A>G
|
rs200809528
|
0.00139
|
NM_000314.8(PTEN):c.-9C>G
|
rs11202592
|
0.00139
|
NM_016169.4(SUFU):c.910+14C>T
|
rs202247757
|
0.00139
|
NM_000251.3(MSH2):c.1737A>G (p.Lys579=)
|
rs61756467
|
0.00138
|
NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter)
|
rs150766139
|
0.00138
|
NM_000051.4(ATM):c.998C>T (p.Ser333Phe)
|
rs28904919
|
0.00137
|
NM_000059.4(BRCA2):c.631+43G>T
|
rs276174869
|
0.00137
|
NM_001146227.3(RPS20):c.*14C>T
|
rs78022071
|
0.00137
|
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp)
|
rs1800709
|
0.00137
|
NM_002439.5(MSH3):c.792+8G>A
|
rs147777411
|
0.00136
|
NM_001082486.2(ACD):c.80G>A (p.Arg27Gln)
|
rs142507451
|
0.00135
|
NM_002691.4(POLD1):c.2007-4G>A
|
rs202035484
|
0.00135
|
NM_017763.6(RNF43):c.1093G>A (p.Ala365Thr)
|
rs79309393
|
0.00135
|
NM_000179.3(MSH6):c.3647-6T>A
|
rs182871847
|
0.00134
|
NM_058195.4(CDKN2A):c.194-3652G>C
|
rs531597737
|
0.00134
|
NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=)
|
rs28897762
|
0.00132
|
NM_000455.5(STK11):c.598-36C>T
|
rs532466406
|
0.00131
|
NM_002878.4(RAD51D):c.666A>G (p.Glu222=)
|
rs114012742
|
0.00131
|
NM_000314.8(PTEN):c.79+35C>T
|
rs190707033
|
0.00130
|
NM_000448.3(RAG1):c.577G>A (p.Glu193Lys)
|
rs34841221
|
0.00130
|
NM_002439.5(MSH3):c.1794G>A (p.Ser598=)
|
rs61753791
|
0.00130
|
NM_004360.5(CDH1):c.88C>A (p.Pro30Thr)
|
rs139866691
|
0.00129
|
NM_000264.5(PTCH1):c.3692T>C (p.Val1231Ala)
|
rs182045135
|
0.00128
|
NM_000388.4(CASR):c.1775A>G (p.Asn592Ser)
|
rs117375173
|
0.00128
|
NM_001040108.2(MLH3):c.4242+28G>C
|
rs188956387
|
0.00128
|
NM_004655.4(AXIN2):c.1807G>C (p.Ala603Pro)
|
rs145353986
|
0.00128
|
NM_015450.3(POT1):c.1506-43A>G
|
rs376679541
|
0.00128
|
NM_177438.3(DICER1):c.4891T>G (p.Ser1631Ala)
|
rs145551486
|
0.00128
|
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser)
|
rs28897747
|
0.00127
|
NM_000791.4(DHFR):c.-443G>A
|
rs577919981
|
0.00127
|
NM_002691.4(POLD1):c.590-40C>T
|
rs8105475
|
0.00127
|
NM_000059.4(BRCA2):c.6821G>T (p.Gly2274Val)
|
rs55712212
|
0.00126
|
NM_000791.4(DHFR):c.-419C>G
|
rs1574197
|
0.00126
|
NM_000051.4(ATM):c.4473C>T (p.Phe1491=)
|
rs4988008
|
0.00125
|
NM_001322934.2(NFKB2):c.1288C>T (p.Pro430Ser)
|
rs202001697
|
0.00125
|
NM_006231.4(POLE):c.6675C>T (p.Arg2225=)
|
rs149973644
|
0.00125
|
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg)
|
rs11212587
|
0.00124
|
NM_000465.4(BARD1):c.158+41G>T
|
rs555835196
|
0.00124
|
NM_000546.6(TP53):c.139C>T (p.Pro47Ser)
|
rs1800371
|
0.00123
|
NM_004655.4(AXIN2):c.2428G>A (p.Asp810Asn)
|
rs140344858
|
0.00123
|
NM_004936.4(CDKN2B):c.256G>A (p.Asp86Asn)
|
rs148421170
|
0.00123
|
NM_006231.4(POLE):c.861T>A (p.Asp287Glu)
|
rs139075637
|
0.00122
|
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp)
|
rs45478192
|
0.00121
|
NM_024675.4(PALB2):c.3495G>A (p.Ser1165=)
|
rs45439097
|
0.00121
|
NM_177438.3(DICER1):c.5145C>T (p.Leu1715=)
|
rs139500905
|
0.00121
|
NM_000059.4(BRCA2):c.9257-49T>C
|
rs117850955
|
0.00120
|
NM_001040108.2(MLH3):c.359T>C (p.Phe120Ser)
|
rs28756979
|
0.00120
|
NM_000245.4(MET):c.2584-9T>C
|
rs74994656
|
0.00119
|
NM_001370259.2(MEN1):c.1296G>A (p.Leu432=)
|
rs138770431
|
0.00119
|
NM_000535.7(PMS2):c.2340C>T (p.Pro780=)
|
rs142230276
|
0.00117
|
NM_007294.4(BRCA1):c.591C>T (p.Cys197=)
|
rs1799965
|
0.00117
|
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys)
|
rs1801155
|
0.00116
|
NM_000051.4(ATM):c.5005+43G>A
|
rs144753630
|
0.00116
|
NM_002878.4(RAD51D):c.146C>T (p.Ala49Val)
|
rs140317560
|
0.00116
|
NM_016169.4(SUFU):c.600C>T (p.Ile200=)
|
rs149513330
|
0.00116
|
NM_000249.4(MLH1):c.-7C>T
|
rs104894994
|
0.00115
|
NM_000038.6(APC):c.423-17T>A
|
rs534684461
|
0.00114
|
NM_000314.8(PTEN):c.-461G>A
|
rs1209261790
|
0.00114
|
NM_000143.4(FH):c.-11C>T
|
rs200942733
|
0.00113
|
NM_001048174.2(MUTYH):c.914-27G>A
|
rs188830619
|
0.00113
|
NM_020461.4(TUBGCP6):c.589T>C (p.Ser197Pro)
|
rs138586345
|
0.00113
|
NM_032043.3(BRIP1):c.890A>G (p.Lys297Arg)
|
rs28997570
|
0.00113
|
NM_000179.3(MSH6):c.4001+39C>G
|
rs201482798
|
0.00112
|
NM_002439.5(MSH3):c.2041C>T (p.Pro681Ser)
|
rs115198722
|
0.00112
|
NM_002691.4(POLD1):c.2979G>A (p.Thr993=)
|
rs3218774
|
0.00112
|
NM_004655.4(AXIN2):c.2051C>T (p.Ala684Val)
|
rs138287857
|
0.00112
|
NM_058216.3(RAD51C):c.837+13T>C
|
rs188613030
|
0.00112
|
NM_002439.5(MSH3):c.2318+11A>G
|
rs200378976
|
0.00111
|
NM_004168.4(SDHA):c.1065-43G>A
|
rs193132294
|
0.00111
|
NM_000249.4(MLH1):c.-28A>G
|
rs56198082
|
0.00110
|
NM_002691.4(POLD1):c.2275G>A (p.Val759Ile)
|
rs145473716
|
0.00110
|
NM_000059.4(BRCA2):c.1040A>G (p.Gln347Arg)
|
rs55800493
|
0.00109
|
NM_000059.4(BRCA2):c.1911T>C (p.Gly637=)
|
rs11571652
|
0.00109
|
NM_002691.4(POLD1):c.33C>T (p.Pro11=)
|
rs3218768
|
0.00109
|
NM_004655.4(AXIN2):c.1532C>T (p.Thr511Met)
|
rs200883019
|
0.00109
|
NM_000059.4(BRCA2):c.175C>G (p.Pro59Ala)
|
rs56091799
|
0.00108
|
NM_001040108.2(MLH3):c.3746C>T (p.Ser1249Phe)
|
rs139265757
|
0.00108
|
NM_002067.5(GNA11):c.189C>T (p.His63=)
|
rs61731116
|
0.00108
|
NM_004656.4(BAP1):c.931+36A>T
|
rs376200445
|
0.00108
|
NM_007294.4(BRCA1):c.765G>A (p.Glu255=)
|
rs62625299
|
0.00107
|
NM_001099274.3(TINF2):c.771C>T (p.His257=)
|
rs75124018
|
0.00106
|
NM_006231.4(POLE):c.1323G>A (p.Pro441=)
|
rs116573514
|
0.00106
|
NM_007294.4(BRCA1):c.3083G>A (p.Arg1028His)
|
rs80357459
|
0.00106
|
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter)
|
rs121434254
|
0.00105
|
NM_058216.3(RAD51C):c.195A>G (p.Arg65=)
|
rs45511291
|
0.00105
|
NM_001040108.2(MLH3):c.4351G>A (p.Glu1451Lys)
|
rs28939071
|
0.00104
|
NM_005359.6(SMAD4):c.565C>T (p.Arg189Cys)
|
rs140743238
|
0.00104
|
NM_032043.3(BRIP1):c.790C>T (p.Arg264Trp)
|
rs28997569
|
0.00104
|
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys)
|
rs138327406
|
0.00103
|
NM_002691.4(POLD1):c.3054G>A (p.Val1018=)
|
rs369613619
|
0.00103
|
NM_024675.4(PALB2):c.1194G>A (p.Val398=)
|
rs61755173
|
0.00103
|
NM_000059.4(BRCA2):c.6057C>T (p.Asn2019=)
|
rs147961615
|
0.00102
|
NM_000410.4(HFE):c.502G>C (p.Glu168Gln)
|
rs146519482
|
0.00102
|
NM_001040108.2(MLH3):c.394G>A (p.Ala132Thr)
|
rs148095325
|
0.00102
|
NM_001082486.2(ACD):c.132C>T (p.Gly44=)
|
rs138527794
|
0.00102
|
NM_001126108.2(SLC12A3):c.363G>C (p.Glu121Asp)
|
rs146632606
|
0.00102
|
NM_000038.6(APC):c.423-16A>T
|
rs78919815
|
0.00101
|
NM_000051.4(ATM):c.2125-48T>C
|
rs371067508
|
0.00101
|
NM_000179.3(MSH6):c.984C>T (p.Ser328=)
|
rs138143769
|
0.00101
|
NM_000552.5(VWF):c.5191T>A (p.Ser1731Thr)
|
rs61750603
|
0.00101
|
NM_006231.4(POLE):c.1360-6C>T
|
rs139836643
|
0.00101
|
NM_001040108.2(MLH3):c.3488G>A (p.Gly1163Asp)
|
rs28757011
|
0.00100
|
NM_001040108.2(MLH3):c.423C>T (p.Ser141=)
|
rs142179277
|
0.00100
|
NM_000143.4(FH):c.556-28T>C
|
rs199773673
|
0.00099
|
NM_002354.3(EPCAM):c.*73C>T
|
rs1803881
|
0.00099
|
NM_006231.4(POLE):c.-44C>A
|
rs754662026
|
0.00099
|
NM_024675.4(PALB2):c.2365C>T (p.Leu789=)
|
rs145805054
|
0.00099
|
NM_177438.3(DICER1):c.4014G>A (p.Ala1338=)
|
rs143454689
|
0.00099
|
NM_000264.5(PTCH1):c.2173C>T (p.Pro725Ser)
|
rs149258400
|
0.00098
|
NM_000552.5(VWF):c.1922C>T (p.Ala641Val)
|
rs61754019
|
0.00098
|
NM_001082486.2(ACD):c.613A>G (p.Thr205Ala)
|
rs139438549
|
0.00098
|
NM_001903.5(CTNNA1):c.301+20T>G
|
rs201543087
|
0.00098
|
NM_002691.4(POLD1):c.1620C>T (p.Gly540=)
|
rs140216790
|
0.00098
|
NM_007294.4(BRCA1):c.4883T>C (p.Met1628Thr)
|
rs4986854
|
0.00098
|
NM_015450.3(POT1):c.1022A>G (p.Gln341Arg)
|
rs554325914
|
0.00098
|
NM_020975.6(RET):c.626-41G>A
|
rs572623103
|
0.00098
|
NM_000059.4(BRCA2):c.2883G>A (p.Gln961=)
|
rs11571655
|
0.00097
|
NM_000077.5(CDKN2A):c.-2G>A
|
rs191394143
|
0.00097
|
NM_004360.5(CDH1):c.388-44G>A
|
rs368884824
|
0.00097
|
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu)
|
rs34231402
|
0.00096
|
NM_000051.4(ATM):c.6860G>C (p.Gly2287Ala)
|
rs1800061
|
0.00096
|
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=)
|
rs28897711
|
0.00096
|
NM_000179.3(MSH6):c.3265T>C (p.Leu1089=)
|
rs34490141
|
0.00096
|
NM_002439.5(MSH3):c.1453+15T>C
|
rs200717987
|
0.00096
|
NM_024529.5(CDC73):c.730-46A>G
|
rs140402302
|
0.00096
|
NM_002691.4(POLD1):c.2250+33G>A
|
rs3219422
|
0.00095
|
NM_007294.4(BRCA1):c.3022A>G (p.Met1008Val)
|
rs56321129
|
0.00095
|
NM_002691.4(POLD1):c.3120+12G>A
|
rs182231620
|
0.00094
|
NM_004655.4(AXIN2):c.1101C>T (p.Pro367=)
|
rs141697521
|
0.00094
|
NM_006231.4(POLE):c.1347G>A (p.Thr449=)
|
rs142373951
|
0.00094
|
NM_000038.6(APC):c.7514G>A (p.Arg2505Gln)
|
rs147549623
|
0.00093
|
NM_001040108.2(MLH3):c.2670G>A (p.Met890Ile)
|
rs147021156
|
0.00093
|
NM_006231.4(POLE):c.5379-28C>T
|
rs5744964
|
0.00093
|
NM_000038.6(APC):c.835-24A>T
|
rs200399868
|
0.00091
|
NM_000314.8(PTEN):c.801+23G>A
|
rs116160352
|
0.00091
|
NM_002067.5(GNA11):c.705C>T (p.Tyr235=)
|
rs138168314
|
0.00091
|
NM_006231.4(POLE):c.1924-23A>G
|
rs201098665
|
0.00091
|
NM_018975.4(TERF2IP):c.711G>A (p.Glu237=)
|
rs72563120
|
0.00090
|
NM_002439.5(MSH3):c.2005C>T (p.Arg669Trp)
|
rs35045151
|
0.00089
|
NM_000038.6(APC):c.6821C>T (p.Ala2274Val)
|
rs34919187
|
0.00088
|
NM_000535.7(PMS2):c.180C>G (p.Asp60Glu)
|
rs200313585
|
0.00088
|
NM_002691.4(POLD1):c.2628C>T (p.Ile876=)
|
rs75874199
|
0.00088
|
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn)
|
rs41294980
|
0.00087
|
NM_000264.5(PTCH1):c.2304C>T (p.Thr768=)
|
rs1805156
|
0.00086
|
NM_000264.5(PTCH1):c.4048C>T (p.Arg1350Trp)
|
rs140417636
|
0.00086
|
NM_000388.4(CASR):c.1631G>A (p.Arg544Gln)
|
rs115230894
|
0.00086
|
NM_000535.7(PMS2):c.251-20T>G
|
rs149343081
|
0.00086
|
NM_002528.7(NTHL1):c.274C>T (p.Arg92Cys)
|
rs148104494
|
0.00086
|
NM_000551.4(VHL):c.341-38C>T
|
rs185858030
|
0.00084
|
NM_002067.5(GNA11):c.476+46G>T
|
rs370011696
|
0.00084
|
NM_004655.4(AXIN2):c.1985T>C (p.Leu662Pro)
|
rs142476324
|
0.00084
|
NM_015450.3(POT1):c.702+30T>C
|
rs200074955
|
0.00084
|
NM_000264.5(PTCH1):c.1306G>A (p.Asp436Asn)
|
rs142274954
|
0.00083
|
NM_002691.4(POLD1):c.612C>T (p.His204=)
|
rs147881471
|
0.00083
|
NM_004329.3(BMPR1A):c.67+25T>C
|
rs191498701
|
0.00083
|
NM_004360.5(CDH1):c.387+27C>T
|
rs33932809
|
0.00083
|
NM_000059.4(BRCA2):c.978C>A (p.Ser326Arg)
|
rs28897706
|
0.00082
|
NM_006231.4(POLE):c.139C>T (p.Arg47Trp)
|
rs143626223
|
0.00082
|
NM_024675.4(PALB2):c.2587-38C>G
|
rs180177119
|
0.00082
|
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr)
|
rs149711770
|
0.00081
|
NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys)
|
rs150792276
|
0.00081
|
NM_004329.3(BMPR1A):c.1327C>T (p.Arg443Cys)
|
rs35619497
|
0.00081
|
NM_000455.5(STK11):c.920+32G>A
|
rs374147918
|
0.00080
|
NM_001142864.4(PIEZO1):c.3602C>T (p.Thr1201Met)
|
rs372935580
|
0.00080
|
NM_144997.7(FLCN):c.1414C>G (p.Pro472Ala)
|
rs151312899
|
0.00080
|
NM_000321.3(RB1):c.920C>T (p.Thr307Ile)
|
rs183898408
|
0.00079
|
NM_024675.4(PALB2):c.2835-27C>T
|
rs199757736
|
0.00079
|
NM_032043.3(BRIP1):c.2257+19A>C
|
rs77851913
|
0.00079
|
NM_001430.5(EPAS1):c.1104G>A (p.Met368Ile)
|
rs61757375
|
0.00078
|
NM_002691.4(POLD1):c.2565-17G>A
|
rs200576676
|
0.00078
|
NM_003227.4(TFR2):c.1097G>A (p.Arg366His)
|
rs184812195
|
0.00078
|
NM_016169.4(SUFU):c.412G>A (p.Ala138Thr)
|
rs34406289
|
0.00078
|
NM_032043.3(BRIP1):c.918+15T>A
|
rs117820198
|
0.00078
|
NM_000051.4(ATM):c.2096A>G (p.Glu699Gly)
|
rs147934285
|
0.00077
|
NM_000249.4(MLH1):c.1151T>A (p.Val384Asp)
|
rs63750447
|
0.00077
|
NM_000455.5(STK11):c.*16+10G>A
|
rs587781180
|
0.00077
|
NM_000535.7(PMS2):c.2187C>G (p.Leu729=)
|
rs373630535
|
0.00077
|
NM_001099274.3(TINF2):c.706C>T (p.Pro236Ser)
|
rs199422321
|
0.00077
|
NM_000051.4(ATM):c.3150T>C (p.Leu1050=)
|
rs3092859
|
0.00076
|
NM_000251.3(MSH2):c.1511-29T>C
|
rs186239388
|
0.00076
|
NM_000264.5(PTCH1):c.3387C>T (p.Gly1129=)
|
rs28446339
|
0.00076
|
NM_004655.4(AXIN2):c.270C>T (p.Asp90=)
|
rs141655687
|
0.00076
|
NM_000264.5(PTCH1):c.2888-44C>T
|
rs45602737
|
0.00075
|
NM_002439.5(MSH3):c.2436-13G>T
|
rs372204576
|
0.00075
|
NM_004655.4(AXIN2):c.1168A>G (p.Ser390Gly)
|
rs139871607
|
0.00075
|
NM_017763.6(RNF43):c.1825C>T (p.Arg609Trp)
|
rs139405076
|
0.00075
|
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe)
|
rs41293475
|
0.00074
|
NM_000059.4(BRCA2):c.1514T>C (p.Ile505Thr)
|
rs28897708
|
0.00074
|
NM_000245.4(MET):c.3549C>T (p.Gly1183=)
|
rs371165052
|
0.00074
|
NM_058216.3(RAD51C):c.146-8A>G
|
rs201079501
|
0.00074
|
NM_177438.3(DICER1):c.2614G>A (p.Ala872Thr)
|
rs149242330
|
0.00074
|
NM_000251.3(MSH2):c.646-46del
|
rs752468406
|
0.00073
|
NM_001040108.2(MLH3):c.2838C>A (p.Ser946=)
|
rs181990057
|
0.00073
|
NM_001370259.2(MEN1):c.-22C>A
|
rs374749001
|
0.00073
|
NM_006231.4(POLE):c.3718G>A (p.Glu1240Lys)
|
rs113594027
|
0.00073
|
NM_000249.4(MLH1):c.2104-11G>A
|
rs147984696
|
0.00072
|
NM_000251.3(MSH2):c.942+3A>T
|
rs193922376
|
0.00072
|
NM_000264.5(PTCH1):c.3805-9C>T
|
rs2236404
|
0.00072
|
NM_000535.7(PMS2):c.2149G>A (p.Val717Met)
|
rs201671325
|
0.00072
|
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu)
|
rs2235006
|
0.00071
|
NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val)
|
rs149755320
|
0.00071
|
NM_006231.4(POLE):c.6004+11A>G
|
rs201591857
|
0.00071
|
NM_144997.7(FLCN):c.959G>A (p.Arg320Gln)
|
rs143483053
|
0.00071
|
NM_000551.4(VHL):c.150C>G (p.Ala50=)
|
rs61751580
|
0.00070
|
NM_004655.4(AXIN2):c.1545C>T (p.His515=)
|
rs139316692
|
0.00070
|
NM_007194.4(CHEK2):c.320-5T>A
|
rs121908700
|
0.00070
|
NM_177438.3(DICER1):c.3428T>C (p.Leu1143Pro)
|
rs139786661
|
0.00070
|
NM_177438.3(DICER1):c.59C>T (p.Ala20Val)
|
rs147660793
|
0.00070
|
NM_177438.3(DICER1):c.924C>T (p.Ala308=)
|
rs142397473
|
0.00070
|
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe)
|
rs55639415
|
0.00069
|
NM_001040108.2(MLH3):c.3571-26G>T
|
rs369710216
|
0.00069
|
NM_032043.3(BRIP1):c.3459T>C (p.Asp1153=)
|
rs4987050
|
0.00069
|
NM_000245.4(MET):c.1039G>A (p.Ala347Thr)
|
rs200074800
|
0.00068
|
NM_000314.8(PTEN):c.804C>A (p.Asp268Glu)
|
rs398123328
|
0.00068
|
NM_004064.5(CDKN1B):c.165G>A (p.Ala55=)
|
rs16908375
|
0.00068
|
NM_006231.4(POLE):c.3851G>A (p.Arg1284Gln)
|
rs149462407
|
0.00068
|
NM_020975.6(RET):c.1465G>A (p.Asp489Asn)
|
rs9282834
|
0.00068
|
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala)
|
rs63751005
|
0.00067
|
NM_000264.5(PTCH1):c.3633C>G (p.Pro1211=)
|
rs56007343
|
0.00067
|
NM_000455.5(STK11):c.597+14del
|
rs536282050
|
0.00067
|
NM_000551.4(VHL):c.183C>G (p.Pro61=)
|
rs63650860
|
0.00067
|
NM_000128.4(F11):c.403G>T (p.Glu135Ter)
|
rs121965063
|
0.00066
|
NM_000143.4(FH):c.105G>A (p.Ser35=)
|
rs181655698
|
0.00066
|
NM_000179.3(MSH6):c.1665A>G (p.Ala555=)
|
rs146785465
|
0.00066
|
NM_000264.5(PTCH1):c.3155C>T (p.Thr1052Met)
|
rs138911275
|
0.00066
|
NM_003052.5(SLC34A1):c.782G>A (p.Arg261His)
|
rs144306414
|
0.00066
|
NM_007294.4(BRCA1):c.2733A>G (p.Gly911=)
|
rs1800740
|
0.00066
|
NM_021067.5(GINS1):c.247C>T (p.Arg83Cys)
|
rs137901350
|
0.00066
|
NM_000264.5(PTCH1):c.2787C>T (p.Asn929=)
|
rs145196322
|
0.00065
|
NM_006231.4(POLE):c.3046G>A (p.Val1016Met)
|
rs147692158
|
0.00065
|
NM_007194.4(CHEK2):c.-6G>A
|
rs376995740
|
0.00065
|
NM_007294.4(BRCA1):c.3024G>A (p.Met1008Ile)
|
rs1800704
|
0.00065
|
NM_007294.4(BRCA1):c.981A>G (p.Thr327=)
|
rs1800063
|
0.00065
|
NC_000005.10:g.112707477A>G
|
rs190326008
|
0.00064
|
NM_000179.3(MSH6):c.663A>C (p.Glu221Asp)
|
rs41557217
|
0.00064
|
NM_000249.4(MLH1):c.1039-25T>A
|
rs764852270
|
0.00064
|
NM_000551.4(VHL):c.340+578C>T
|
rs139622356
|
0.00064
|
NM_004360.5(CDH1):c.2520C>T (p.Ser840=)
|
rs140328601
|
0.00064
|
NM_004655.4(AXIN2):c.1250C>T (p.Ala417Val)
|
rs201460658
|
0.00064
|
NM_004655.4(AXIN2):c.2285G>A (p.Ser762Asn)
|
rs117688560
|
0.00064
|
NM_007294.4(BRCA1):c.3302G>A (p.Ser1101Asn)
|
rs41293447
|
0.00064
|
NM_007294.4(BRCA1):c.4812A>G (p.Gln1604=)
|
rs28897693
|
0.00064
|
NM_017763.6(RNF43):c.970C>A (p.Gln324Lys)
|
rs111856468
|
0.00064
|
NM_000388.4(CASR):c.906C>T (p.Ser302=)
|
rs201067850
|
0.00063
|
NM_006231.4(POLE):c.4057A>G (p.Ser1353Gly)
|
rs141619382
|
0.00063
|
NM_144997.7(FLCN):c.397-12G>T
|
rs199958635
|
0.00063
|
NM_000249.4(MLH1):c.375A>G (p.Ala125=)
|
rs1800144
|
0.00062
|
NM_002691.4(POLD1):c.455C>T (p.Ala152Val)
|
rs41563714
|
0.00062
|
NM_017763.6(RNF43):c.1592G>A (p.Arg531His)
|
rs148619997
|
0.00062
|
NM_000245.4(MET):c.467C>T (p.Ser156Leu)
|
rs56311081
|
0.00061
|
NM_001040108.2(MLH3):c.1234A>G (p.Lys412Glu)
|
rs61754769
|
0.00061
|
NM_001048174.2(MUTYH):c.1393-28G>A
|
rs373226007
|
0.00061
|
NM_002528.7(NTHL1):c.355-34G>A
|
rs369651668
|
0.00061
|
NM_002691.4(POLD1):c.581C>G (p.Ser194Cys)
|
rs144656348
|
0.00061
|
NM_000455.5(STK11):c.945G>A (p.Pro315=)
|
rs376329042
|
0.00060
|
NM_002691.4(POLD1):c.883G>A (p.Val295Met)
|
rs199545019
|
0.00060
|
NM_007294.4(BRCA1):c.1487G>A (p.Arg496His)
|
rs28897677
|
0.00060
|
NM_024675.4(PALB2):c.2996+17T>C
|
rs180177128
|
0.00060
|
NM_000179.3(MSH6):c.1508C>G (p.Ser503Cys)
|
rs63750897
|
0.00059
|
NM_000321.3(RB1):c.1966C>T (p.Arg656Trp)
|
rs142509759
|
0.00059
|
NM_000535.7(PMS2):c.86G>C (p.Gly29Ala)
|
rs146176004
|
0.00059
|
NM_004656.4(BAP1):c.519T>C (p.Tyr173=)
|
rs143901408
|
0.00059
|
NM_058195.4(CDKN2A):c.194-3650G>A
|
rs730881676
|
0.00059
|
NM_177438.3(DICER1):c.5203C>T (p.Leu1735=)
|
rs188609628
|
0.00059
|
NM_000179.3(MSH6):c.1869C>T (p.Pro623=)
|
rs141242295
|
0.00058
|
NM_000245.4(MET):c.406G>A (p.Val136Ile)
|
rs199701987
|
0.00058
|
NM_001082486.2(ACD):c.337-22C>A
|
rs371007556
|
0.00058
|
NM_001142864.4(PIEZO1):c.6905G>A (p.Arg2302His)
|
rs200555745
|
0.00058
|
NM_002528.7(NTHL1):c.355-37C>T
|
rs3087466
|
0.00058
|
NM_003000.3(SDHB):c.765+29G>A
|
rs41273161
|
0.00058
|
NM_004329.3(BMPR1A):c.1419T>G (p.Val473=)
|
rs145756629
|
0.00058
|
NM_017763.6(RNF43):c.597G>A (p.Val199=)
|
rs77499318
|
0.00058
|
NM_024675.4(PALB2):c.2851T>C (p.Ser951Pro)
|
rs149522412
|
0.00058
|
NM_024675.4(PALB2):c.2997-34A>C
|
rs200676448
|
0.00058
|
NM_144997.7(FLCN):c.871+47G>A
|
rs142934950
|
0.00058
|
NM_000264.5(PTCH1):c.3487G>A (p.Gly1163Ser)
|
rs113663584
|
0.00057
|
NM_004360.5(CDH1):c.2439+10C>T
|
rs35236080
|
0.00057
|
NM_006231.4(POLE):c.6004+43C>T
|
rs202115116
|
0.00057
|
NM_000038.6(APC):c.3173A>G (p.Asp1058Gly)
|
rs148725540
|
0.00056
|
NM_001040108.2(MLH3):c.2043T>C (p.Tyr681=)
|
rs143573376
|
0.00056
|
NM_002691.4(POLD1):c.1138-8A>G
|
rs41544624
|
0.00056
|
NM_003001.5(SDHC):c.77+31T>A
|
rs759799321
|
0.00056
|
NM_004656.4(BAP1):c.294C>T (p.Ser98=)
|
rs140641333
|
0.00056
|
NM_015450.3(POT1):c.949+40A>G
|
rs182906205
|
0.00056
|
NM_020975.6(RET):c.833C>A (p.Thr278Asn)
|
rs35118262
|
0.00056
|
NM_024529.5(CDC73):c.-11G>A
|
rs80356643
|
0.00056
|
NM_000245.4(MET):c.71G>A (p.Gly24Glu)
|
rs180985111
|
0.00055
|
NM_001376013.1(EPB41):c.2443C>T (p.Arg815Cys)
|
rs148459745
|
0.00055
|
NM_004656.4(BAP1):c.376-50C>T
|
rs370668123
|
0.00055
|
NM_006231.4(POLE):c.2173+48C>A
|
rs375204111
|
0.00055
|
NM_024675.4(PALB2):c.2749-18C>T
|
rs182194007
|
0.00055
|
NM_032043.3(BRIP1):c.430G>A (p.Ala144Thr)
|
rs116952709
|
0.00055
|
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg)
|
rs28897712
|
0.00054
|
NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn)
|
rs28897716
|
0.00054
|
NM_002016.2(FLG):c.6109C>T (p.Arg2037Ter)
|
rs200002200
|
0.00054
|
NM_002528.7(NTHL1):c.*30T>C
|
rs371249070
|
0.00054
|
NM_003000.3(SDHB):c.21C>T (p.Leu7=)
|
rs147815442
|
0.00054
|
NM_000038.6(APC):c.1240C>T (p.Arg414Cys)
|
rs137854567
|
0.00053
|
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys)
|
rs34640941
|
0.00053
|
NM_000059.4(BRCA2):c.7435+6G>A
|
rs81002852
|
0.00053
|
NM_000245.4(MET):c.3523-12C>G
|
rs186524917
|
0.00053
|
NM_000251.3(MSH2):c.1563T>C (p.Tyr521=)
|
rs63750330
|
0.00053
|
NM_000455.5(STK11):c.426C>T (p.Ser142=)
|
rs758448869
|
0.00053
|
NM_001082486.2(ACD):c.22G>A (p.Val8Ile)
|
rs149365469
|
0.00053
|
NM_002691.4(POLD1):c.1665C>T (p.Val555=)
|
rs150238541
|
0.00053
|
NM_006231.4(POLE):c.6495C>T (p.Arg2165=)
|
rs114778730
|
0.00053
|
NM_144997.7(FLCN):c.1269C>T (p.His423=)
|
rs41464156
|
0.00053
|
NM_000298.6(PKLR):c.1529G>A (p.Arg510Gln)
|
rs113403872
|
0.00052
|
NM_000051.4(ATM):c.8592C>T (p.Tyr2864=)
|
rs56025670
|
0.00051
|
NM_000143.4(FH):c.77C>T (p.Pro26Leu)
|
rs187226800
|
0.00051
|
NM_000264.5(PTCH1):c.3947A>G (p.Tyr1316Cys)
|
rs147067171
|
0.00051
|
NM_000264.5(PTCH1):c.4128C>T (p.Ser1376=)
|
rs142148876
|
0.00051
|
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe)
|
rs200078204
|
0.00051
|
NM_000546.6(TP53):c.783-33T>C
|
rs113302588
|
0.00051
|
NM_000551.4(VHL):c.463+8C>T
|
rs5030834
|
0.00051
|
NM_001048174.2(MUTYH):c.841C>T (p.Arg281Cys)
|
rs138089183
|
0.00051
|
NM_004329.3(BMPR1A):c.1243G>A (p.Glu415Lys)
|
rs140592056
|
0.00051
|
NM_004655.4(AXIN2):c.1908-21C>G
|
rs190627728
|
0.00051
|
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys)
|
rs77130927
|
0.00051
|
NM_032043.3(BRIP1):c.1935+11G>A
|
rs79121306
|
0.00051
|
NM_004656.4(BAP1):c.501G>A (p.Ala167=)
|
rs148631953
|
0.00050
|
NM_006363.6(SEC23B):c.74C>A (p.Pro25His)
|
rs6045440
|
0.00050
|
NM_020975.6(RET):c.*29C>A
|
rs199639914
|
0.00050
|
NM_021870.3(FGG):c.140C>T (p.Thr47Ile)
|
rs138511699
|
0.00050
|
NM_000264.5(PTCH1):c.2560+8G>A
|
rs201541845
|
0.00049
|
NM_000465.4(BARD1):c.215+12C>T
|
rs373816832
|
0.00049
|
NM_000535.7(PMS2):c.354-34C>G
|
rs200029834
|
0.00049
|
NM_001243133.2(NLRP3):c.2176A>G (p.Ser726Gly)
|
rs147946775
|
0.00049
|
NM_001377304.1(GFI1B):c.503G>T (p.Cys168Phe)
|
rs527297896
|
0.00049
|
NM_017763.6(RNF43):c.2091C>T (p.His697=)
|
rs199916345
|
0.00049
|
NM_017763.6(RNF43):c.319G>A (p.Val107Ile)
|
rs199909371
|
0.00049
|
NM_000038.6(APC):c.295C>T (p.Arg99Trp)
|
rs139196838
|
0.00048
|
NM_000059.4(BRCA2):c.631+25C>T
|
rs367871824
|
0.00048
|
NM_000059.4(BRCA2):c.7544C>T (p.Thr2515Ile)
|
rs28897744
|
0.00048
|
NM_000059.4(BRCA2):c.7994A>G (p.Asp2665Gly)
|
rs28897745
|
0.00048
|
NM_001040108.2(MLH3):c.2911G>A (p.Val971Ile)
|
rs41555714
|
0.00048
|
NM_001142864.4(PIEZO1):c.5312C>T (p.Pro1771Leu)
|
rs202099525
|
0.00048
|
NM_001370259.2(MEN1):c.1049+9C>T
|
rs200517349
|
0.00048
|
NM_002528.7(NTHL1):c.526-44G>C
|
rs2233521
|
0.00048
|
NM_203447.4(DOCK8):c.5612A>G (p.Tyr1871Cys)
|
rs140403518
|
0.00048
|
NM_000059.4(BRCA2):c.9411T>G (p.Thr3137=)
|
rs1799968
|
0.00047
|
NM_000059.4(BRCA2):c.9649-19G>A
|
rs11571830
|
0.00047
|
NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp)
|
rs143671872
|
0.00047
|
NM_000143.4(FH):c.1299C>T (p.Asn433=)
|
rs201994824
|
0.00047
|
NM_000455.5(STK11):c.1185A>G (p.Thr395=)
|
rs370207155
|
0.00047
|
NM_006231.4(POLE):c.5659G>A (p.Val1887Met)
|
rs114119067
|
0.00047
|
NM_020975.6(RET):c.3112A>G (p.Thr1038Ala)
|
rs201740483
|
0.00047
|
NM_058216.3(RAD51C):c.706-18T>C
|
rs56401264
|
0.00047
|
NM_000051.4(ATM):c.1986T>C (p.Phe662=)
|
rs1800055
|
0.00046
|
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala)
|
rs140856217
|
0.00046
|
NM_000059.4(BRCA2):c.7976+45G>C
|
rs11571718
|
0.00046
|
NM_000251.3(MSH2):c.815C>T (p.Ala272Val)
|
rs34136999
|
0.00046
|
NM_002691.4(POLD1):c.2103C>T (p.Tyr701=)
|
rs201483538
|
0.00046
|
NM_004655.4(AXIN2):c.2052G>A (p.Ala684=)
|
rs200573256
|
0.00046
|
NM_006231.4(POLE):c.1337G>A (p.Arg446Gln)
|
rs151273553
|
0.00046
|
NM_007294.4(BRCA1):c.2566T>C (p.Tyr856His)
|
rs80356892
|
0.00046
|
NM_017763.6(RNF43):c.575C>T (p.Pro192Leu)
|
rs139557480
|
0.00046
|
NM_000059.4(BRCA2):c.5879G>A (p.Cys1960Tyr)
|
rs56157628
|
0.00045
|
NM_000077.5(CDKN2A):c.273G>A (p.Leu91=)
|
rs4987127
|
0.00045
|
NM_001048174.2(MUTYH):c.914-9C>T
|
rs3219488
|
0.00045
|
NM_002691.4(POLD1):c.2052G>C (p.Gln684His)
|
rs144143245
|
0.00045
|
NM_002691.4(POLD1):c.653G>A (p.Arg218His)
|
rs150010804
|
0.00045
|
NM_004360.5(CDH1):c.1744C>T (p.Leu582=)
|
rs1801025
|
0.00045
|
NM_000051.4(ATM):c.3342G>A (p.Lys1114=)
|
rs138393322
|
0.00044
|
NM_000059.4(BRCA2):c.4585G>A (p.Gly1529Arg)
|
rs28897728
|
0.00044
|
NM_000388.4(CASR):c.1733-9A>G
|
rs190731787
|
0.00044
|
NM_001048174.2(MUTYH):c.11C>T (p.Pro4Leu)
|
rs79777494
|
0.00044
|
NM_001048174.2(MUTYH):c.264+11G>A
|
rs139977567
|
0.00044
|
NM_001048174.2(MUTYH):c.32G>A (p.Gly11Asp)
|
rs75321043
|
0.00044
|
NM_015450.3(POT1):c.-34T>C
|
rs202009081
|
0.00044
|
NM_017763.6(RNF43):c.837C>T (p.Phe279=)
|
rs141997049
|
0.00044
|
NM_000037.4(ANK1):c.4448T>G (p.Leu1483Arg)
|
rs141408004
|
0.00043
|
NM_000251.3(MSH2):c.1680T>C (p.Asn560=)
|
rs200056411
|
0.00043
|
NM_000264.5(PTCH1):c.4324C>T (p.Arg1442Trp)
|
rs143464326
|
0.00043
|
NM_001048174.2(MUTYH):c.1365C>T (p.Thr455=)
|
rs150269172
|
0.00043
|
NM_001127511.3(APC):c.-166C>T
|
rs904001781
|
0.00043
|
NM_004655.4(AXIN2):c.733C>T (p.Pro245Ser)
|
rs62640028
|
0.00043
|
NM_007294.4(BRCA1):c.4096+36A>G
|
rs45620639
|
0.00043
|
NM_177438.3(DICER1):c.4206+11_4206+13del
|
rs752585711
|
0.00043
|
NM_177438.3(DICER1):c.438+11T>C
|
rs376038413
|
0.00043
|
NM_000251.3(MSH2):c.1886A>G (p.Gln629Arg)
|
rs61756468
|
0.00042
|
NM_000251.3(MSH2):c.2005+49T>G
|
rs201999276
|
0.00042
|
NM_015450.3(POT1):c.1127A>G (p.Gln376Arg)
|
rs143635917
|
0.00042
|
NM_000038.6(APC):c.2322C>T (p.Asp774=)
|
rs145792879
|
0.00041
|
NM_000249.4(MLH1):c.702G>A (p.Glu234=)
|
rs35908749
|
0.00041
|
NM_000249.4(MLH1):c.884+39G>A
|
rs370283452
|
0.00041
|
NM_001048174.2(MUTYH):c.1174C>A (p.Leu392Met)
|
rs144079536
|
0.00041
|
NM_001354604.2(MITF):c.881-7T>A
|
rs200580325
|
0.00041
|
NM_002691.4(POLD1):c.1932C>G (p.Asp644Glu)
|
rs80214209
|
0.00041
|
NM_002691.4(POLD1):c.3068-14C>T
|
rs3218758
|
0.00041
|
NM_002691.4(POLD1):c.317-25G>A
|
rs149385400
|
0.00041
|
NM_002878.4(RAD51D):c.932T>A (p.Ile311Asn)
|
rs145309168
|
0.00041
|
NM_003000.3(SDHB):c.158G>A (p.Gly53Glu)
|
rs34916635
|
0.00041
|
NM_006231.4(POLE):c.1015G>A (p.Asp339Asn)
|
rs149029910
|
0.00041
|
NM_006231.4(POLE):c.3881G>A (p.Arg1294His)
|
rs115455318
|
0.00041
|
NM_022051.3(EGLN1):c.470A>G (p.Gln157Arg)
|
rs748272071
|
0.00041
|
NM_032043.3(BRIP1):c.2220G>T (p.Gln740His)
|
rs45589637
|
0.00041
|
NM_175914.5(HNF4A):c.726G>A (p.Val242=)
|
rs145280017
|
0.00041
|
NM_000038.6(APC):c.2805C>T (p.Tyr935=)
|
rs137854575
|
0.00040
|
NM_000204.5(CFI):c.355G>A (p.Gly119Arg)
|
rs141853578
|
0.00040
|
NM_000249.4(MLH1):c.198C>T (p.Thr66=)
|
rs61751642
|
0.00040
|
NM_000264.5(PTCH1):c.945+20G>A
|
rs374618901
|
0.00040
|
NM_003000.3(SDHB):c.287-26A>G
|
rs201397253
|
0.00040
|
NM_004329.3(BMPR1A):c.430+25G>A
|
rs200416589
|
0.00040
|
NM_006231.4(POLE):c.2171C>T (p.Ala724Val)
|
rs61734163
|
0.00040
|
NM_177438.3(DICER1):c.3269+14G>A
|
rs201906274
|
0.00040
|
NC_000002.12:g.47386975A>G
|
rs539981178
|
0.00039
|
NM_000038.6(APC):c.2847G>T (p.Met949Ile)
|
rs147394539
|
0.00039
|
NM_000245.4(MET):c.3810C>T (p.Gly1270=)
|
rs200865810
|
0.00039
|
NM_000251.3(MSH2):c.1168C>T (p.Leu390Phe)
|
rs17224367
|
0.00039
|
NM_000314.8(PTEN):c.802-34C>A
|
rs531071483
|
0.00039
|
NM_000535.7(PMS2):c.1560G>A (p.Ala520=)
|
rs201167814
|
0.00039
|
NM_000551.4(VHL):c.241C>T (p.Pro81Ser)
|
rs104893829
|
0.00039
|
NM_001040108.2(MLH3):c.837C>T (p.Cys279=)
|
rs149962294
|
0.00039
|
NM_002691.4(POLD1):c.*22C>T
|
rs369354335
|
0.00039
|
NM_002691.4(POLD1):c.2954-29C>T
|
rs368911467
|
0.00039
|
NM_007294.4(BRCA1):c.4484+39A>G
|
rs371380546
|
0.00039
|
NM_000038.6(APC):c.3650A>C (p.Asn1217Thr)
|
rs138933660
|
0.00038
|
NM_000051.4(ATM):c.7390T>C (p.Cys2464Arg)
|
rs55801750
|
0.00038
|
NM_000245.4(MET):c.901A>G (p.Thr301Ala)
|
rs201687037
|
0.00038
|
NM_000251.3(MSH2):c.1511-41G>C
|
rs202215396
|
0.00038
|
NM_000535.7(PMS2):c.1268C>G (p.Ala423Gly)
|
rs756883400
|
0.00038
|
NM_001040108.2(MLH3):c.3344G>A (p.Arg1115Gln)
|
rs78311619
|
0.00038
|
NM_002878.4(RAD51D):c.904-11T>A
|
rs374449943
|
0.00038
|
NM_004360.5(CDH1):c.808T>G (p.Ser270Ala)
|
rs587776399
|
0.00038
|
NM_006231.4(POLE):c.2026+9C>T
|
rs373790607
|
0.00038
|
NM_006231.4(POLE):c.3275+42A>G
|
rs370319609
|
0.00038
|
NM_017763.6(RNF43):c.2054C>A (p.Thr685Asn)
|
rs34464652
|
0.00038
|
NM_019616.4(F7):c.995C>T (p.Ala332Val)
|
rs36209567
|
0.00038
|
NM_144997.7(FLCN):c.397-21G>C
|
rs149414632
|
0.00038
|
NM_000038.6(APC):c.730-22G>C
|
rs115634618
|
0.00037
|
NM_000075.4(CDK4):c.764G>A (p.Arg255His)
|
rs144657355
|
0.00037
|
NM_000179.3(MSH6):c.1449G>T (p.Val483=)
|
rs35590297
|
0.00037
|
NM_000249.4(MLH1):c.977T>C (p.Val326Ala)
|
rs63751049
|
0.00037
|
NM_000388.4(CASR):c.2064C>T (p.Phe688=)
|
rs150869744
|
0.00037
|
NM_001184.4(ATR):c.6023G>T (p.Arg2008Leu)
|
rs145569221
|
0.00037
|
NM_002878.4(RAD51D):c.26G>C (p.Cys9Ser)
|
rs140825795
|
0.00037
|
NM_004656.4(BAP1):c.288G>A (p.Leu96=)
|
rs117382883
|
0.00037
|
NM_007194.4(CHEK2):c.*18C>T
|
rs17884403
|
0.00037
|
NM_144997.7(FLCN):c.619-20C>T
|
rs202217257
|
0.00037
|
NM_000038.6(APC):c.1958+33A>G
|
rs141414393
|
0.00036
|
NM_000038.6(APC):c.6857C>T (p.Ala2286Val)
|
rs200587641
|
0.00036
|
NM_000051.4(ATM):c.6808-22C>A
|
rs3218700
|
0.00036
|
NM_000264.5(PTCH1):c.4325G>A (p.Arg1442Gln)
|
rs56023271
|
0.00036
|
NM_001082486.2(ACD):c.99+18G>A
|
rs369046068
|
0.00036
|
NM_005359.6(SMAD4):c.1448-33T>A
|
rs368121123
|
0.00036
|
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe)
|
rs56009889
|
0.00035
|
NM_000455.5(STK11):c.1284G>A (p.Ser428=)
|
rs369097329
|
0.00035
|
NM_001040108.2(MLH3):c.3440A>T (p.Asn1147Ile)
|
rs142124529
|
0.00035
|
NM_001048174.2(MUTYH):c.850-2A>G
|
rs77542170
|
0.00035
|
NM_004656.4(BAP1):c.1035G>C (p.Gly345=)
|
rs369744075
|
0.00035
|
NM_005373.3(MPL):c.305G>C (p.Arg102Pro)
|
rs28928907
|
0.00035
|
NM_015450.3(POT1):c.846C>T (p.Asn282=)
|
rs142704514
|
0.00035
|
NM_024675.4(PALB2):c.1470C>T (p.Pro490=)
|
rs45612837
|
0.00035
|
NM_000038.6(APC):c.607C>G (p.Gln203Glu)
|
rs141576417
|
0.00034
|
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro)
|
rs139552233
|
0.00034
|
NM_000051.4(ATM):c.4402G>A (p.Val1468Ile)
|
rs369903995
|
0.00034
|
NM_000249.4(MLH1):c.1321G>A (p.Ala441Thr)
|
rs63750365
|
0.00034
|
NM_000463.3(UGT1A1):c.674T>G (p.Val225Gly)
|
rs35003977
|
0.00034
|
NM_001040108.2(MLH3):c.1637G>T (p.Arg546Ile)
|
rs55725216
|
0.00034
|
NM_001099274.3(TINF2):c.734C>A (p.Ser245Tyr)
|
rs142777869
|
0.00034
|
NM_002691.4(POLD1):c.945C>T (p.Phe315=)
|
rs150116169
|
0.00034
|
NM_006231.4(POLE):c.*18G>T
|
rs573406234
|
0.00034
|
NM_006231.4(POLE):c.1359+19G>A
|
rs375000942
|
0.00034
|
NM_006231.4(POLE):c.1534G>A (p.Ala512Thr)
|
rs113998091
|
0.00034
|
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr)
|
rs200050883
|
0.00034
|
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu)
|
rs55906931
|
0.00034
|
NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer)
|
rs747253294
|
0.00034
|
NM_032043.3(BRIP1):c.380-17T>A
|
rs200050729
|
0.00034
|
NM_198253.3(TERT):c.219+7C>T
|
rs573817924
|
0.00034
|
NM_000251.3(MSH2):c.2154A>G (p.Gln718=)
|
rs63750810
|
0.00033
|
NM_002528.7(NTHL1):c.116-16G>A
|
rs145790217
|
0.00033
|
NM_005359.6(SMAD4):c.1392C>T (p.Ala464=)
|
rs140487104
|
0.00033
|
NM_006231.4(POLE):c.6714C>T (p.Cys2238=)
|
rs200082120
|
0.00033
|
NM_177438.3(DICER1):c.5096-24C>T
|
rs147293630
|
0.00033
|
NM_000038.6(APC):c.645+33G>A
|
rs200162147
|
0.00032
|
NM_000051.4(ATM):c.2494C>T (p.Arg832Cys)
|
rs2229022
|
0.00032
|
NM_000059.4(BRCA2):c.223G>C (p.Ala75Pro)
|
rs28897701
|
0.00032
|
NM_000059.4(BRCA2):c.8187G>T (p.Lys2729Asn)
|
rs80359065
|
0.00032
|
NM_000179.3(MSH6):c.3488A>T (p.Glu1163Val)
|
rs63750252
|
0.00032
|
NM_000535.7(PMS2):c.988+11T>C
|
rs139969671
|
0.00032
|
NM_000536.4(RAG2):c.644C>T (p.Thr215Ile)
|
rs35691292
|
0.00032
|
NM_001040108.2(MLH3):c.2449A>G (p.Ser817Gly)
|
rs143278116
|
0.00032
|
NM_002439.5(MSH3):c.1394A>G (p.Tyr465Cys)
|
rs35009542
|
0.00032
|
NM_003001.5(SDHC):c.20+22G>C
|
rs182261879
|
0.00032
|
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met)
|
rs142763740
|
0.00032
|
NM_000038.6(APC):c.4905G>A (p.Gly1635=)
|
rs137988845
|
0.00031
|
NM_000038.6(APC):c.7490C>T (p.Ser2497Leu)
|
rs141010008
|
0.00031
|
NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val)
|
rs79538375
|
0.00031
|
NM_000187.4(HGD):c.1102A>G (p.Met368Val)
|
rs120074173
|
0.00031
|
NM_000251.3(MSH2):c.435T>G (p.Ile145Met)
|
rs63750124
|
0.00031
|
NM_001040108.2(MLH3):c.4011+15T>G
|
rs139032600
|
0.00031
|
NM_001048174.2(MUTYH):c.1392+2C>T
|
rs140288388
|
0.00031
|
NM_001082486.2(ACD):c.109G>A (p.Asp37Asn)
|
rs142662151
|
0.00031
|
NM_001082486.2(ACD):c.997G>A (p.Ala333Thr)
|
rs202104741
|
0.00031
|
NM_001142864.4(PIEZO1):c.3181C>G (p.Pro1061Ala)
|
rs748155949
|
0.00031
|
NM_004655.4(AXIN2):c.1685C>T (p.Pro562Leu)
|
rs149764887
|
0.00031
|
NM_004655.4(AXIN2):c.2213C>T (p.Ser738Phe)
|
rs139209450
|
0.00031
|
NM_004656.4(BAP1):c.1962A>C (p.Val654=)
|
rs148624125
|
0.00031
|
NM_006231.4(POLE):c.5173+17A>G
|
rs368209692
|
0.00031
|
NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys)
|
rs28897687
|
0.00031
|
NM_000051.4(ATM):c.4949A>G (p.Asn1650Ser)
|
rs55870064
|
0.00030
|
NM_000251.3(MSH2):c.2005+47T>G
|
rs751227018
|
0.00030
|
NM_000535.7(PMS2):c.706-3C>T
|
rs1229860023
|
0.00030
|
NM_001040108.2(MLH3):c.1168T>A (p.Phe390Ile)
|
rs61752721
|
0.00030
|
NM_001142864.4(PIEZO1):c.7471C>T (p.Arg2491Trp)
|
rs201746476
|
0.00030
|
NM_002691.4(POLD1):c.714G>A (p.Thr238=)
|
rs149096523
|
0.00030
|
NM_000051.4(ATM):c.4324T>C (p.Tyr1442His)
|
rs201666889
|
0.00029
|
NM_000075.4(CDK4):c.625C>T (p.Arg209Cys)
|
rs140644696
|
0.00029
|
NM_000077.5(CDKN2A):c.-14C>T
|
rs764244718
|
0.00029
|
NM_000249.4(MLH1):c.1897-17C>G
|
rs2308316
|
0.00029
|
NM_000249.4(MLH1):c.207+35C>T
|
rs376593743
|
0.00029
|
NM_000251.3(MSH2):c.471C>A (p.Gly157=)
|
rs61756463
|
0.00029
|
NM_000465.4(BARD1):c.346C>T (p.His116Tyr)
|
rs144856889
|
0.00029
|
NM_000535.7(PMS2):c.572A>G (p.Tyr191Cys)
|
rs375289386
|
0.00029
|
NM_002528.7(NTHL1):c.74G>A (p.Arg25Lys)
|
rs2302172
|
0.00029
|
NM_002691.4(POLD1):c.961G>A (p.Gly321Ser)
|
rs41554817
|
0.00029
|
NM_004360.5(CDH1):c.1937-25C>A
|
rs201760019
|
0.00029
|
NM_006231.4(POLE):c.5496T>C (p.Leu1832=)
|
rs147543146
|
0.00029
|
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His)
|
rs56012641
|
0.00029
|
NM_007294.4(BRCA1):c.536A>G (p.Tyr179Cys)
|
rs56187033
|
0.00029
|
NM_016169.4(SUFU):c.318-17C>A
|
rs201198734
|
0.00029
|
NM_144997.7(FLCN):c.268G>T (p.Ala90Ser)
|
rs141140415
|
0.00029
|
NM_000038.6(APC):c.3511C>T (p.Arg1171Cys)
|
rs201830995
|
0.00028
|
NM_000059.4(BRCA2):c.425+33A>G
|
rs200065709
|
0.00028
|
NM_000137.4(FAH):c.1062+5G>A
|
rs80338901
|
0.00028
|
NM_000179.3(MSH6):c.3217C>T (p.Pro1073Ser)
|
rs142254875
|
0.00028
|
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)
|
rs5030868
|
0.00028
|
NM_002439.5(MSH3):c.2262A>G (p.Ile754Met)
|
rs200819607
|
0.00028
|
NM_002439.5(MSH3):c.356C>T (p.Ser119Phe)
|
rs144607594
|
0.00028
|
NM_004360.5(CDH1):c.892G>A (p.Ala298Thr)
|
rs142822590
|
0.00028
|
NM_006231.4(POLE):c.2320-28A>C
|
rs199693164
|
0.00028
|
NM_006231.4(POLE):c.2510T>C (p.Phe837Ser)
|
rs139182500
|
0.00028
|
NM_007294.4(BRCA1):c.548-17G>T
|
rs80358014
|
0.00028
|
NM_017763.6(RNF43):c.849+19T>C
|
rs374448803
|
0.00028
|
NM_144997.7(FLCN):c.1149C>T (p.Leu383=)
|
rs150752548
|
0.00028
|
NM_000179.3(MSH6):c.-18G>T
|
rs199913053
|
0.00027
|
NM_000245.4(MET):c.1966-17T>C
|
rs555288487
|
0.00027
|
NM_000264.5(PTCH1):c.1216-6C>A
|
rs186008764
|
0.00027
|
NM_000455.5(STK11):c.*8C>T
|
rs587782259
|
0.00027
|
NM_000465.4(BARD1):c.1491A>G (p.Pro497=)
|
rs61754117
|
0.00027
|
NM_001332.4(CTNND2):c.1520A>C (p.Gln507Pro)
|
rs142843736
|
0.00027
|
NM_002691.4(POLD1):c.1795G>A (p.Ala599Thr)
|
rs149569984
|
0.00027
|
NM_004360.5(CDH1):c.303C>T (p.Tyr101=)
|
rs150789339
|
0.00027
|
NM_006231.4(POLE):c.1020+29C>T
|
rs369332806
|
0.00027
|
NM_006231.4(POLE):c.4941C>T (p.Phe1647=)
|
rs145639967
|
0.00027
|
NM_007194.4(CHEK2):c.1604G>A (p.Arg535His)
|
rs544216926
|
0.00027
|
NM_007294.4(BRCA1):c.3713C>T (p.Pro1238Leu)
|
rs28897688
|
0.00027
|
NM_020975.6(RET):c.2673G>A (p.Ser891=)
|
rs201620214
|
0.00027
|
NM_000038.6(APC):c.8266A>G (p.Ile2756Val)
|
rs146115809
|
0.00026
|
NM_000051.4(ATM):c.1595G>A (p.Cys532Tyr)
|
rs35963548
|
0.00026
|
NM_000051.4(ATM):c.4362A>C (p.Lys1454Asn)
|
rs148993589
|
0.00026
|
NM_000059.4(BRCA2):c.1395A>C (p.Val465=)
|
rs11571641
|
0.00026
|
NM_000059.4(BRCA2):c.4584C>T (p.Ser1528=)
|
rs80359788
|
0.00026
|
NM_000059.4(BRCA2):c.4686A>G (p.Gln1562=)
|
rs28897730
|
0.00026
|
NM_000059.4(BRCA2):c.516+14C>T
|
rs182828913
|
0.00026
|
NM_000059.4(BRCA2):c.6853A>G (p.Ile2285Val)
|
rs56272235
|
0.00026
|
NM_000059.4(BRCA2):c.9292T>C (p.Tyr3098His)
|
rs41293521
|
0.00026
|
NM_000077.5(CDKN2A):c.318G>A (p.Val106=)
|
rs199888003
|
0.00026
|
NM_000179.3(MSH6):c.4002-10T>A
|
rs545466048
|
0.00026
|
NM_000400.4(ERCC2):c.1606G>A (p.Val536Met)
|
rs142568756
|
0.00026
|
NM_000518.5(HBB):c.118C>T (p.Gln40Ter)
|
rs11549407
|
0.00026
|
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser)
|
rs200513014
|
0.00026
|
NM_000553.6(WRN):c.2986G>A (p.Asp996Asn)
|
rs138379977
|
0.00026
|
NM_002528.7(NTHL1):c.835C>T (p.Gln279Ter)
|
rs146347092
|
0.00026
|
NM_004360.5(CDH1):c.2413G>A (p.Asp805Asn)
|
rs200894246
|
0.00026
|
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe)
|
rs137853011
|
0.00026
|
NM_007194.4(CHEK2):c.444+19T>C
|
rs200501745
|
0.00026
|
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val)
|
rs28897675
|
0.00026
|
NM_024675.4(PALB2):c.1000T>G (p.Tyr334Asp)
|
rs202241382
|
0.00026
|
NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp)
|
rs150624408
|
0.00026
|
NM_000038.6(APC):c.221-29G>C
|
rs369645686
|
0.00025
|
NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr)
|
rs150757822
|
0.00025
|
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His)
|
rs56328701
|
0.00025
|
NM_000059.4(BRCA2):c.440A>G (p.Gln147Arg)
|
rs80358674
|
0.00025
|
NM_000059.4(BRCA2):c.9876G>A (p.Pro3292=)
|
rs369047997
|
0.00025
|
NM_000143.4(FH):c.1391-40C>G
|
rs200343739
|
0.00025
|
NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser)
|
rs17420802
|
0.00025
|
NM_000546.6(TP53):c.704A>G (p.Asn235Ser)
|
rs144340710
|
0.00025
|
NM_001023.4(RPS20):c.150G>A (p.Val50=)
|
rs146149290
|
0.00025
|
NM_001142864.4(PIEZO1):c.5627G>A (p.Arg1876Lys)
|
rs201967733
|
0.00025
|
NM_002691.4(POLD1):c.1686+42C>T
|
rs185839121
|
0.00025
|
NM_002691.4(POLD1):c.3257G>A (p.Arg1086Gln)
|
rs3219457
|
0.00025
|
NM_002878.4(RAD51D):c.413A>G (p.Asn138Ser)
|
rs201676898
|
0.00025
|
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter)
|
rs142441643
|
0.00025
|
NM_004329.3(BMPR1A):c.1433G>A (p.Arg478His)
|
rs113849804
|
0.00025
|
NM_004655.4(AXIN2):c.1059+8C>T
|
rs367595502
|
0.00025
|
NM_004655.4(AXIN2):c.1201-23C>T
|
rs572748824
|
0.00025
|
NM_005359.6(SMAD4):c.1448-49G>C
|
rs375313666
|
0.00025
|
NM_006231.4(POLE):c.1405C>T (p.Leu469=)
|
rs368303888
|
0.00025
|
NM_006231.4(POLE):c.2865-39C>A
|
rs376216671
|
0.00025
|
NM_177438.3(DICER1):c.1124C>G (p.Pro375Arg)
|
rs148758903
|
0.00025
|
NM_000038.6(APC):c.5274T>A (p.Ser1758=)
|
rs199600387
|
0.00024
|
NM_000059.4(BRCA2):c.6455C>A (p.Ser2152Tyr)
|
rs80358881
|
0.00024
|
NM_000245.4(MET):c.967A>G (p.Ser323Gly)
|
rs201467281
|
0.00024
|
NM_000249.4(MLH1):c.1039-35_1039-33del
|
rs773376086
|
0.00024
|
NM_000251.3(MSH2):c.1277-16T>C
|
rs368653974
|
0.00024
|
NM_000264.5(PTCH1):c.584+14C>T
|
rs372641261
|
0.00024
|
NM_000465.4(BARD1):c.668A>G (p.Glu223Gly)
|
rs145009419
|
0.00024
|
NM_000791.4(DHFR):c.-349G>A
|
rs146523896
|
0.00024
|
NM_002439.5(MSH3):c.2685C>T (p.Thr895=)
|
rs61753792
|
0.00024
|
NM_002691.4(POLD1):c.463+24T>C
|
rs372578888
|
0.00024
|
NM_002691.4(POLD1):c.885G>C (p.Val295=)
|
rs201946114
|
0.00024
|
NM_002691.4(POLD1):c.970+47G>C
|
rs202018595
|
0.00024
|
NM_004655.4(AXIN2):c.-33A>C
|
rs190687283
|
0.00024
|
NM_004655.4(AXIN2):c.879A>G (p.Pro293=)
|
rs374479599
|
0.00024
|
NM_006231.4(POLE):c.2683G>A (p.Ala895Thr)
|
rs201115064
|
0.00024
|
NM_006363.6(SEC23B):c.325G>A (p.Glu109Lys)
|
rs121918221
|
0.00024
|
NM_007294.4(BRCA1):c.4358-10C>T
|
rs80358111
|
0.00024
|
NM_007294.4(BRCA1):c.528G>A (p.Thr176=)
|
rs34545365
|
0.00024
|
NM_013372.7(GREM1):c.-49G>A
|
rs535570187
|
0.00024
|
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala)
|
rs28903098
|
0.00024
|
NM_058195.4(CDKN2A):c.69C>T (p.Phe23=)
|
rs374360796
|
0.00024
|
NM_058216.3(RAD51C):c.145+12T>G
|
rs377297129
|
0.00024
|
NM_144997.7(FLCN):c.715C>T (p.Arg239Cys)
|
rs78683075
|
0.00024
|
NM_000038.6(APC):c.6526T>C (p.Leu2176=)
|
rs183468041
|
0.00023
|
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn)
|
rs56087561
|
0.00023
|
NM_000179.3(MSH6):c.3438+11_3438+14del
|
rs377746844
|
0.00023
|
NM_000179.3(MSH6):c.73G>T (p.Ala25Ser)
|
rs267608026
|
0.00023
|
NM_000455.5(STK11):c.1194G>A (p.Ala398=)
|
rs184271025
|
0.00023
|
NM_001006658.3(CR2):c.1931G>A (p.Cys644Tyr)
|
rs149972318
|
0.00023
|
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln)
|
rs149866955
|
0.00023
|
NM_004360.5(CDH1):c.687+33G>A
|
rs199545571
|
0.00023
|
NM_004360.5(CDH1):c.8C>G (p.Pro3Arg)
|
rs587782484
|
0.00023
|
NM_006231.4(POLE):c.3379-12C>T
|
rs187618435
|
0.00023
|
NM_006231.4(POLE):c.5379-19C>T
|
rs376722984
|
0.00023
|
NM_006231.4(POLE):c.691C>T (p.Arg231Cys)
|
rs146592584
|
0.00023
|
NM_006231.4(POLE):c.761C>T (p.Pro254Leu)
|
rs200211438
|
0.00023
|
NM_007294.4(BRCA1):c.1486C>T (p.Arg496Cys)
|
rs28897676
|
0.00023
|
NM_017763.6(RNF43):c.1821G>A (p.Ser607=)
|
rs200680078
|
0.00023
|
NM_032043.3(BRIP1):c.1794+48G>A
|
rs767074722
|
0.00023
|
NM_032043.3(BRIP1):c.2380-23T>A
|
rs532683816
|
0.00023
|
NM_000059.4(BRCA2):c.7976+35C>A
|
rs181176701
|
0.00022
|
NM_000059.4(BRCA2):c.9038C>T (p.Thr3013Ile)
|
rs28897755
|
0.00022
|
NM_000059.4(BRCA2):c.9502-12T>G
|
rs81002803
|
0.00022
|
NM_000077.5(CDKN2A):c.373G>C (p.Asp125His)
|
rs146179135
|
0.00022
|
NM_000143.4(FH):c.7C>G (p.Arg3Gly)
|
rs202166344
|
0.00022
|
NM_000245.4(MET):c.1076G>A (p.Arg359Gln)
|
rs201274041
|
0.00022
|
NM_000249.4(MLH1):c.2066A>G (p.Gln689Arg)
|
rs63750702
|
0.00022
|
NM_000249.4(MLH1):c.307-19A>G
|
rs121909451
|
0.00022
|
NM_000251.3(MSH2):c.1787A>G (p.Asn596Ser)
|
rs41295288
|
0.00022
|
NM_000251.3(MSH2):c.2005+48_2005+49insG
|
rs554890815
|
0.00022
|
NM_000314.8(PTEN):c.-622C>T
|
rs911535376
|
0.00022
|
NM_000535.7(PMS2):c.953A>G (p.Tyr318Cys)
|
rs139438201
|
0.00022
|
NM_002439.5(MSH3):c.2438A>G (p.Lys813Arg)
|
rs150446804
|
0.00022
|
NM_004360.5(CDH1):c.2589C>T (p.Asn863=)
|
rs115817750
|
0.00022
|
NM_004360.5(CDH1):c.33G>C (p.Leu11=)
|
rs730881654
|
0.00022
|
NM_007294.4(BRCA1):c.807G>A (p.Leu269=)
|
rs149867679
|
0.00022
|
NM_013372.7(GREM1):c.-76C>G
|
rs898995478
|
0.00022
|
NM_015450.3(POT1):c.1228G>C (p.Asp410His)
|
rs79314063
|
0.00022
|
NM_020975.6(RET):c.2410G>A (p.Val804Met)
|
rs79658334
|
0.00022
|
NM_000038.6(APC):c.3352A>G (p.Asn1118Asp)
|
rs140493115
|
0.00021
|
NM_000051.4(ATM):c.3403-15_3403-14insTA
|
rs1555091084
|
0.00021
|
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp)
|
rs80358755
|
0.00021
|
NM_000059.4(BRCA2):c.682-32A>G
|
rs376686897
|
0.00021
|
NM_000143.4(FH):c.1303G>A (p.Val435Met)
|
rs147528200
|
0.00021
|
NM_000179.3(MSH6):c.*49_*68dup
|
rs777409019
|
0.00021
|
NM_000245.4(MET):c.4105T>C (p.Leu1369=)
|
rs45575438
|
0.00021
|
NM_000264.5(PTCH1):c.3150C>T (p.Pro1050=)
|
rs149398794
|
0.00021
|
NM_000264.5(PTCH1):c.3919C>T (p.Pro1307Ser)
|
rs574880967
|
0.00021
|
NM_000465.4(BARD1):c.1347A>G (p.Gln449=)
|
rs373257776
|
0.00021
|
NM_000535.7(PMS2):c.1567T>A (p.Ser523Thr)
|
rs63751132
|
0.00021
|
NM_001006658.3(CR2):c.3033G>C (p.Gln1011His)
|
rs200182370
|
0.00021
|
NM_001040108.2(MLH3):c.3465+50C>A
|
rs375745203
|
0.00021
|
NM_001040108.2(MLH3):c.4180G>A (p.Ala1394Thr)
|
rs138006166
|
0.00021
|
NM_001048174.2(MUTYH):c.848G>A (p.Arg283Lys)
|
rs149342980
|
0.00021
|
NM_001083603.3(PTCH1):c.36G>T (p.Val12=)
|
rs200215582
|
0.00021
|
NM_002354.3(EPCAM):c.*176A>G
|
rs181258023
|
0.00021
|
NM_002439.5(MSH3):c.1174-12A>G
|
rs202083881
|
0.00021
|
NM_002691.4(POLD1):c.317-39T>G
|
rs753812502
|
0.00021
|
NM_004360.5(CDH1):c.670C>T (p.Arg224Cys)
|
rs200310662
|
0.00021
|
NM_004656.4(BAP1):c.932-38C>T
|
rs200846682
|
0.00021
|
NM_006231.4(POLE):c.519C>T (p.Ala173=)
|
rs187690610
|
0.00021
|
NM_006231.4(POLE):c.561C>T (p.Tyr187=)
|
rs143938822
|
0.00021
|
NM_006231.4(POLE):c.5811+26G>A
|
rs202120601
|
0.00021
|
NM_007294.4(BRCA1):c.2477C>A (p.Thr826Lys)
|
rs28897683
|
0.00021
|
NM_007294.4(BRCA1):c.571G>A (p.Val191Ile)
|
rs80357090
|
0.00021
|
NM_017763.6(RNF43):c.1114C>T (p.Pro372Ser)
|
rs201204271
|
0.00021
|
NM_024675.4(PALB2):c.656A>G (p.Asp219Gly)
|
rs45594034
|
0.00021
|
NM_177438.3(DICER1):c.4901T>C (p.Leu1634Ser)
|
rs149723645
|
0.00021
|
NM_177438.3(DICER1):c.5364+20A>T
|
rs150893725
|
0.00021
|
NM_000038.6(APC):c.3006C>T (p.Ala1002=)
|
rs72541810
|
0.00020
|
NM_000051.4(ATM):c.3402+17T>C
|
rs3092825
|
0.00020
|
NM_000059.4(BRCA2):c.1385A>G (p.Glu462Gly)
|
rs56403624
|
0.00020
|
NM_000059.4(BRCA2):c.198A>G (p.Gln66=)
|
rs28897700
|
0.00020
|
NM_000059.4(BRCA2):c.5710C>G (p.Leu1904Val)
|
rs55875643
|
0.00020
|
NM_000455.5(STK11):c.1296G>A (p.Gln432=)
|
rs587781179
|
0.00020
|
NM_001048174.2(MUTYH):c.1102+17C>T
|
rs369034810
|
0.00020
|
NM_001354604.2(MITF):c.955+40A>T
|
rs780050293
|
0.00020
|
NM_003001.5(SDHC):c.120G>A (p.Arg40=)
|
rs36097930
|
0.00020
|
NM_006231.4(POLE):c.1645T>C (p.Ser549Pro)
|
rs115558715
|
0.00020
|
NM_024675.4(PALB2):c.1492G>T (p.Asp498Tyr)
|
rs75023630
|
0.00020
|
NM_024675.4(PALB2):c.2244A>G (p.Thr748=)
|
rs750048627
|
0.00020
|
NM_144997.7(FLCN):c.246C>T (p.Cys82=)
|
rs150712346
|
0.00020
|
NM_144997.7(FLCN):c.396+4A>G
|
rs370353839
|
0.00020
|
NM_000038.6(APC):c.1488A>T (p.Thr496=)
|
rs9282599
|
0.00019
|
NM_000038.6(APC):c.2205G>A (p.Ala735=)
|
rs141001261
|
0.00019
|
NM_000051.4(ATM):c.1272T>C (p.Pro424=)
|
rs35578748
|
0.00019
|
NM_000051.4(ATM):c.4768C>T (p.Leu1590Phe)
|
rs35962982
|
0.00019
|
NM_000051.4(ATM):c.4980C>T (p.Asn1660=)
|
rs144338238
|
0.00019
|
NM_000051.4(ATM):c.7475T>G (p.Leu2492Arg)
|
rs56399857
|
0.00019
|
NM_000051.4(ATM):c.8734A>G (p.Arg2912Gly)
|
rs376676328
|
0.00019
|
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs)
|
rs80359550
|
0.00019
|
NM_000059.4(BRCA2):c.6322C>T (p.Arg2108Cys)
|
rs55794205
|
0.00019
|
NM_000059.4(BRCA2):c.8905G>A (p.Val2969Met)
|
rs59004709
|
0.00019
|
NM_000059.4(BRCA2):c.9770A>G (p.Lys3257Arg)
|
rs55847618
|
0.00019
|
NM_000077.5(CDKN2A):c.51C>A (p.Ala17=)
|
rs764362225
|
0.00019
|
NM_000143.4(FH):c.1237-12A>T
|
rs74405673
|
0.00019
|
NM_000179.3(MSH6):c.3961A>G (p.Arg1321Gly)
|
rs41295278
|
0.00019
|
NM_000179.3(MSH6):c.4001+11_4001+15dup
|
rs587779302
|
0.00019
|
NM_000245.4(MET):c.3522+12G>T
|
rs200624981
|
0.00019
|
NM_000251.3(MSH2):c.1276+47T>A
|
rs148018406
|
0.00019
|
NM_000251.3(MSH2):c.138C>G (p.His46Gln)
|
rs33946261
|
0.00019
|
NM_000441.2(SLC26A4):c.412G>T (p.Val138Phe)
|
rs111033199
|
0.00019
|
NM_000535.7(PMS2):c.1243G>A (p.Val415Met)
|
rs138387687
|
0.00019
|
NM_000546.6(TP53):c.1079G>C (p.Gly360Ala)
|
rs35993958
|
0.00019
|
NM_001040108.2(MLH3):c.3280+14A>T
|
rs142042839
|
0.00019
|
NM_001040108.2(MLH3):c.3563C>G (p.Ser1188Ter)
|
rs193219754
|
0.00019
|
NM_001354604.2(MITF):c.329C>T (p.Thr110Met)
|
rs190215588
|
0.00019
|
NM_001355436.2(SPTB):c.1182+3A>G
|
rs45556435
|
0.00019
|
NM_002528.7(NTHL1):c.791+10T>G
|
rs564181825
|
0.00019
|
NM_002691.4(POLD1):c.2007-5C>T
|
rs199506387
|
0.00019
|
NM_005535.3(IL12RB1):c.833C>T (p.Thr278Met)
|
rs201223132
|
0.00019
|
NM_006231.4(POLE):c.3378+10A>G
|
rs193075152
|
0.00019
|
NM_006231.4(POLE):c.6006G>A (p.Ala2002=)
|
rs146902214
|
0.00019
|
NM_006231.4(POLE):c.6532-19G>T
|
rs201114228
|
0.00019
|
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His)
|
rs139366548
|
0.00019
|
NM_007294.4(BRCA1):c.4484+14A>G
|
rs80358022
|
0.00019
|
NM_007294.4(BRCA1):c.5005G>T (p.Ala1669Ser)
|
rs80357087
|
0.00019
|
NM_007294.4(BRCA1):c.828A>G (p.Thr276=)
|
rs186274774
|
0.00019
|
NM_015450.3(POT1):c.1792+40T>G
|
rs371196958
|
0.00019
|
NM_015450.3(POT1):c.64A>G (p.Ile22Val)
|
rs375440229
|
0.00019
|
NM_032043.3(BRIP1):c.36G>T (p.Gly12=)
|
rs45566938
|
0.00019
|
NM_032043.3(BRIP1):c.380-5A>G
|
rs587782131
|
0.00019
|
NM_144997.7(FLCN):c.592G>A (p.Asp198Asn)
|
rs200168437
|
0.00019
|
NM_199242.3(UNC13D):c.887C>T (p.Pro296Leu)
|
rs541737648
|
0.00019
|
NM_000038.6(APC):c.3374T>C (p.Val1125Ala)
|
rs377278397
|
0.00018
|
NM_000038.6(APC):c.4237A>G (p.Met1413Val)
|
rs141519952
|
0.00018
|
NM_000038.6(APC):c.5009C>T (p.Ala1670Val)
|
rs202228932
|
0.00018
|
NM_000059.4(BRCA2):c.2350A>G (p.Met784Val)
|
rs11571653
|
0.00018
|
NM_000059.4(BRCA2):c.7976+23C>T
|
rs183623188
|
0.00018
|
NM_000251.3(MSH2):c.1730T>C (p.Ile577Thr)
|
rs63749910
|
0.00018
|
NM_000455.5(STK11):c.618G>A (p.Ala206=)
|
rs370976710
|
0.00018
|
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)
|
rs121434629
|
0.00018
|
NM_000535.7(PMS2):c.2253T>C (p.Phe751=)
|
rs1805325
|
0.00018
|
NM_000546.6(TP53):c.1014C>T (p.Phe338=)
|
rs150293825
|
0.00018
|
NM_000552.5(VWF):c.5014G>A (p.Gly1672Arg)
|
rs61750598
|
0.00018
|
NM_001040108.2(MLH3):c.2547T>C (p.Ser849=)
|
rs183078420
|
0.00018
|
NM_001040108.2(MLH3):c.3137G>A (p.Arg1046Gln)
|
rs201303087
|
0.00018
|
NM_001048174.2(MUTYH):c.1102+9A>T
|
rs587780742
|
0.00018
|
NM_001370259.2(MEN1):c.762G>A (p.Leu254=)
|
rs199909967
|
0.00018
|
NM_002354.3(EPCAM):c.859-3C>G
|
rs201314303
|
0.00018
|
NM_002528.7(NTHL1):c.115+24C>T
|
rs758065714
|
0.00018
|
NM_002691.4(POLD1):c.2017G>A (p.Glu673Lys)
|
rs61751955
|
0.00018
|
NM_002878.4(RAD51D):c.904-3C>T
|
rs45478491
|
0.00018
|
NM_004360.5(CDH1):c.2412C>T (p.Pro804=)
|
rs202075199
|
0.00018
|
NM_007294.4(BRCA1):c.5406+33A>T
|
rs80358092
|
0.00018
|
NM_144997.7(FLCN):c.1300+48C>G
|
rs565858485
|
0.00018
|
NM_144997.7(FLCN):c.1523A>G (p.Lys508Arg)
|
rs199643834
|
0.00018
|
NM_177438.3(DICER1):c.4819C>T (p.Arg1607Trp)
|
rs189119295
|
0.00018
|
NM_198253.3(TERT):c.604G>A (p.Ala202Thr)
|
rs121918661
|
0.00018
|
NM_000051.4(ATM):c.1009C>T (p.Arg337Cys)
|
rs138398778
|
0.00017
|
NM_000051.4(ATM):c.2467-31T>C
|
rs141761716
|
0.00017
|
NM_000051.4(ATM):c.6108T>C (p.Tyr2036=)
|
rs3092826
|
0.00017
|
NM_000249.4(MLH1):c.1040C>A (p.Thr347Asn)
|
rs201541505
|
0.00017
|
NM_000251.3(MSH2):c.2005+50T>G
|
rs554780147
|
0.00017
|
NM_000264.5(PTCH1):c.1728+16T>A
|
rs758961945
|
0.00017
|
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met)
|
rs587780046
|
0.00017
|
NM_000791.4(DHFR):c.-197G>A
|
rs534679562
|
0.00017
|
NM_002067.5(GNA11):c.*29G>C
|
rs376237181
|
0.00017
|
NM_002528.7(NTHL1):c.275G>A (p.Arg92His)
|
rs145644817
|
0.00017
|
NM_002691.4(POLD1):c.1137+42C>T
|
rs564899107
|
0.00017
|
NM_002691.4(POLD1):c.2006+16C>T
|
rs372942171
|
0.00017
|
NM_002691.4(POLD1):c.2718-46C>T
|
rs565857345
|
0.00017
|
NM_004004.6(GJB2):c.-23+1G>A
|
rs80338940
|
0.00017
|
NM_006231.4(POLE):c.5173+18C>T
|
rs201587262
|
0.00017
|
NM_006231.4(POLE):c.6747+39C>T
|
rs200926632
|
0.00017
|
NM_006363.6(SEC23B):c.40C>T (p.Arg14Trp)
|
rs121918222
|
0.00017
|
NM_007294.4(BRCA1):c.3748G>A (p.Glu1250Lys)
|
rs28897686
|
0.00017
|
NM_024675.4(PALB2):c.2135C>T (p.Ala712Val)
|
rs141458731
|
0.00017
|
NM_032043.3(BRIP1):c.587A>G (p.Asn196Ser)
|
rs550707862
|
0.00017
|
NM_144997.7(FLCN):c.580C>T (p.Arg194Trp)
|
rs138070947
|
0.00017
|
NM_177438.3(DICER1):c.3261G>A (p.Ala1087=)
|
rs369869162
|
0.00017
|
NM_177438.3(DICER1):c.4207-3C>T
|
rs376041812
|
0.00017
|
NM_000038.6(APC):c.6510A>C (p.Pro2170=)
|
rs138571760
|
0.00016
|
NM_000038.6(APC):c.6669A>G (p.Ser2223=)
|
rs372680843
|
0.00016
|
NM_000051.4(ATM):c.3403-16_3403-15insA
|
rs569564716
|
0.00016
|
NM_000051.4(ATM):c.7224G>A (p.Ser2408=)
|
rs145747513
|
0.00016
|
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp)
|
rs201199629
|
0.00016
|
NM_000059.4(BRCA2):c.3417G>A (p.Lys1139=)
|
rs145625991
|
0.00016
|
NM_000059.4(BRCA2):c.9649-20C>T
|
rs56177715
|
0.00016
|
NM_000075.4(CDK4):c.684-4A>T
|
rs370609910
|
0.00016
|
NM_000077.5(CDKN2A):c.384G>A (p.Arg128=)
|
rs199901898
|
0.00016
|
NM_000130.5(F5):c.6401C>T (p.Thr2134Met)
|
rs199601865
|
0.00016
|
NM_000179.3(MSH6):c.3160A>T (p.Ile1054Phe)
|
rs267608075
|
0.00016
|
NM_000245.4(MET):c.1412G>A (p.Gly471Glu)
|
rs373312981
|
0.00016
|
NM_000245.4(MET):c.4087G>A (p.Ala1363Thr)
|
rs45578433
|
0.00016
|
NM_000249.4(MLH1):c.65G>C (p.Gly22Ala)
|
rs41295280
|
0.00016
|
NM_000251.3(MSH2):c.1275A>G (p.Glu425=)
|
rs63751650
|
0.00016
|
NM_000264.5(PTCH1):c.4001G>A (p.Ser1334Asn)
|
rs200620662
|
0.00016
|
NM_000268.4(NF2):c.114+20G>T
|
rs746868503
|
0.00016
|
NM_000314.8(PTEN):c.234C>T (p.Thr78=)
|
rs35917308
|
0.00016
|
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr)
|
rs201343342
|
0.00016
|
NM_001040108.2(MLH3):c.713A>C (p.Tyr238Ser)
|
rs144707485
|
0.00016
|
NM_001048174.2(MUTYH):c.1483C>T (p.Arg495Cys)
|
rs147480076
|
0.00016
|
NM_001048174.2(MUTYH):c.616G>A (p.Val206Met)
|
rs200165598
|
0.00016
|
NM_002439.5(MSH3):c.16C>T (p.Pro6Ser)
|
rs374904719
|
0.00016
|
NM_002439.5(MSH3):c.359-33A>G
|
rs370734697
|
0.00016
|
NM_002691.4(POLD1):c.2185G>A (p.Glu729Lys)
|
rs200931999
|
0.00016
|
NM_002691.4(POLD1):c.2337G>A (p.Ala779=)
|
rs147108748
|
0.00016
|
NM_003000.3(SDHB):c.642+17T>C
|
rs200597595
|
0.00016
|
NM_004168.4(SDHA):c.955A>C (p.Ile319Leu)
|
rs377509915
|
0.00016
|
NM_004360.5(CDH1):c.388-21C>A
|
rs769585694
|
0.00016
|
NM_004655.4(AXIN2):c.1242G>A (p.Arg414=)
|
rs200325634
|
0.00016
|
NM_004655.4(AXIN2):c.780T>C (p.Ser260=)
|
rs147681058
|
0.00016
|
NM_004656.4(BAP1):c.376-4G>A
|
rs369277958
|
0.00016
|
NM_004656.4(BAP1):c.534C>T (p.Gly178=)
|
rs200285587
|
0.00016
|
NM_004656.4(BAP1):c.912C>A (p.Ala304=)
|
rs201809705
|
0.00016
|
NM_006231.4(POLE):c.-32C>G
|
rs764493951
|
0.00016
|
NM_006231.4(POLE):c.154C>T (p.Arg52Trp)
|
rs115452881
|
0.00016
|
NM_006231.4(POLE):c.3245G>A (p.Arg1082His)
|
rs201744227
|
0.00016
|
NM_006231.4(POLE):c.3862G>A (p.Ala1288Thr)
|
rs200398117
|
0.00016
|
NM_006231.4(POLE):c.6331-24C>T
|
rs201573387
|
0.00016
|
NM_006231.4(POLE):c.6597C>T (p.Ile2199=)
|
rs147611144
|
0.00016
|
NM_007194.4(CHEK2):c.715G>A (p.Glu239Lys)
|
rs121908702
|
0.00016
|
NM_007294.4(BRCA1):c.3296C>T (p.Pro1099Leu)
|
rs80357201
|
0.00016
|
NM_024675.4(PALB2):c.3054G>C (p.Glu1018Asp)
|
rs183489969
|
0.00016
|
NM_032043.3(BRIP1):c.2440C>T (p.Arg814Cys)
|
rs201869624
|
0.00016
|
NM_144997.7(FLCN):c.1062+7G>A
|
rs540198776
|
0.00016
|
NM_144997.7(FLCN):c.1278C>T (p.Ile426=)
|
rs41459448
|
0.00016
|
NM_000038.6(APC):c.1606G>A (p.Glu536Lys)
|
rs138098808
|
0.00015
|
NM_000038.6(APC):c.6985A>G (p.Ile2329Val)
|
rs146048493
|
0.00015
|
NM_000051.4(ATM):c.8156G>A (p.Arg2719His)
|
rs55982963
|
0.00015
|
NM_000264.5(PTCH1):c.2485G>A (p.Val829Met)
|
rs201125580
|
0.00015
|
NM_000314.8(PTEN):c.802-12T>C
|
rs587781129
|
0.00015
|
NM_000535.7(PMS2):c.1467G>A (p.Glu489=)
|
rs542522853
|
0.00015
|
NM_001082486.2(ACD):c.846C>T (p.Pro282=)
|
rs199856965
|
0.00015
|
NM_002354.3(EPCAM):c.*257T>G
|
rs578005343
|
0.00015
|
NM_002691.4(POLD1):c.3219-42G>C
|
rs759477141
|
0.00015
|
NM_003801.4(GPAA1):c.1477_1478del (p.Arg493fs)
|
rs782339984
|
0.00015
|
NM_004360.5(CDH1):c.2329G>A (p.Asp777Asn)
|
rs372989292
|
0.00015
|
NM_004656.4(BAP1):c.1407C>T (p.Ser469=)
|
rs150524807
|
0.00015
|
NM_006231.4(POLE):c.2974G>A (p.Ala992Thr)
|
rs115193764
|
0.00015
|
NM_006231.4(POLE):c.3460-34G>A
|
rs183039142
|
0.00015
|
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys)
|
rs141568342
|
0.00015
|
NM_017763.6(RNF43):c.640C>G (p.Leu214Val)
|
rs200626293
|
0.00015
|
NM_024675.4(PALB2):c.2515-46A>G
|
rs138588349
|
0.00015
|
NM_177438.3(DICER1):c.2040+29T>C
|
rs370866625
|
0.00015
|
NM_177438.3(DICER1):c.3792G>A (p.Thr1264=)
|
rs778862635
|
0.00015
|
NM_000038.6(APC):c.6609T>C (p.Val2203=)
|
rs149328018
|
0.00014
|
NM_000051.4(ATM):c.4110-25G>A
|
rs368881313
|
0.00014
|
NM_000059.4(BRCA2):c.4061C>T (p.Thr1354Met)
|
rs80358656
|
0.00014
|
NM_000143.4(FH):c.122C>T (p.Ala41Val)
|
rs201486221
|
0.00014
|
NM_000143.4(FH):c.379-49G>A
|
rs201168370
|
0.00014
|
NM_000179.3(MSH6):c.2398G>C (p.Val800Leu)
|
rs61748083
|
0.00014
|
NM_000179.3(MSH6):c.884A>G (p.Lys295Arg)
|
rs267608051
|
0.00014
|
NM_000249.4(MLH1):c.803A>G (p.Glu268Gly)
|
rs63750650
|
0.00014
|
NM_000251.3(MSH2):c.1748A>G (p.Asn583Ser)
|
rs201118107
|
0.00014
|
NM_000251.3(MSH2):c.367-27A>C
|
rs369231703
|
0.00014
|
NM_000264.5(PTCH1):c.2678G>A (p.Arg893His)
|
rs138154222
|
0.00014
|
NM_000329.3(RPE65):c.11+5G>A
|
rs61751276
|
0.00014
|
NM_000465.4(BARD1):c.279A>G (p.Gln93=)
|
rs370000575
|
0.00014
|
NM_000546.6(TP53):c.869G>A (p.Arg290His)
|
rs55819519
|
0.00014
|
NM_000551.4(VHL):c.246C>T (p.Arg82=)
|
rs587780993
|
0.00014
|
NM_001040108.2(MLH3):c.3637G>A (p.Glu1213Lys)
|
rs140899869
|
0.00014
|
NM_001040108.2(MLH3):c.3752G>A (p.Arg1251Gln)
|
rs201721635
|
0.00014
|
NM_001360016.2(G6PD):c.1360C>T (p.Arg454Cys)
|
rs398123546
|
0.00014
|
NM_001370259.2(MEN1):c.1351-4C>T
|
rs764408631
|
0.00014
|
NM_002382.5(MAX):c.36+11G>C
|
rs377066570
|
0.00014
|
NM_004064.5(CDKN1B):c.482C>G (p.Ser161Cys)
|
rs373917399
|
0.00014
|
NM_004329.3(BMPR1A):c.676-6A>C
|
rs186999445
|
0.00014
|
NM_004655.4(AXIN2):c.1305G>A (p.Pro435=)
|
rs369221405
|
0.00014
|
NM_004655.4(AXIN2):c.1975C>T (p.Arg659Trp)
|
rs142670753
|
0.00014
|
NM_004656.4(BAP1):c.2091C>T (p.Ser697=)
|
rs754513396
|
0.00014
|
NM_006231.4(POLE):c.1583C>T (p.Thr528Met)
|
rs116263919
|
0.00014
|
NM_006231.4(POLE):c.1740C>T (p.His580=)
|
rs114972594
|
0.00014
|
NM_006231.4(POLE):c.4237G>A (p.Glu1413Lys)
|
rs372901803
|
0.00014
|
NM_006231.4(POLE):c.6004+5G>T
|
rs372169366
|
0.00014
|
NM_007194.4(CHEK2):c.-4C>T
|
rs374938148
|
0.00014
|
NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser)
|
rs587780179
|
0.00014
|
NM_020975.6(RET):c.1063+9G>A
|
rs765463636
|
0.00014
|
NM_020975.6(RET):c.1699G>A (p.Asp567Asn)
|
rs147219360
|
0.00014
|
NM_024675.4(PALB2):c.2586+10A>G
|
rs373321719
|
0.00014
|
NM_032043.3(BRIP1):c.-30-3T>C
|
rs370728413
|
0.00014
|
NM_058216.3(RAD51C):c.784T>G (p.Leu262Val)
|
rs149331537
|
0.00014
|
NM_144997.7(FLCN):c.1281C>G (p.Pro427=)
|
rs372207262
|
0.00014
|
NM_144997.7(FLCN):c.1463C>T (p.Ala488Val)
|
rs200660337
|
0.00014
|
NM_177438.3(DICER1):c.3820A>C (p.Arg1274=)
|
rs142193936
|
0.00014
|
NM_000051.4(ATM):c.1773T>C (p.Asn591=)
|
rs61734356
|
0.00013
|
NM_000051.4(ATM):c.2606C>G (p.Ala869Gly)
|
rs145513717
|
0.00013
|
NM_000051.4(ATM):c.8671+9T>G
|
rs200190537
|
0.00013
|
NM_000059.4(BRCA2):c.3445A>G (p.Met1149Val)
|
rs80358589
|
0.00013
|
NM_000075.4(CDK4):c.122A>G (p.Asn41Ser)
|
rs144890720
|
0.00013
|
NM_000085.5(CLCNKB):c.112T>C (p.Trp38Arg)
|
rs375301415
|
0.00013
|
NM_000143.4(FH):c.739-10T>C
|
rs201971572
|
0.00013
|
NM_000179.3(MSH6):c.59C>T (p.Ala20Val)
|
rs63750664
|
0.00013
|
NM_000179.3(MSH6):c.650A>G (p.Asp217Gly)
|
rs554012110
|
0.00013
|
NM_000251.3(MSH2):c.505A>G (p.Ile169Val)
|
rs63750716
|
0.00013
|
NM_000455.5(STK11):c.1071G>T (p.Glu357Asp)
|
rs556651007
|
0.00013
|
NM_000465.4(BARD1):c.659T>C (p.Leu220Ser)
|
rs138593305
|
0.00013
|
NM_000535.7(PMS2):c.1556A>G (p.Tyr519Cys)
|
rs63750649
|
0.00013
|
NM_000535.7(PMS2):c.240C>T (p.Phe80=)
|
rs143162541
|
0.00013
|
NM_000535.7(PMS2):c.255G>A (p.Leu85=)
|
rs200491279
|
0.00013
|
NM_000535.7(PMS2):c.620G>A (p.Gly207Glu)
|
rs374704824
|
0.00013
|
NM_000551.4(VHL):c.629G>A (p.Arg210Gln)
|
rs138780791
|
0.00013
|
NM_001127511.3(APC):c.-109C>G
|
rs761634030
|
0.00013
|
NM_001127511.3(APC):c.119G>C (p.Ser40Thr)
|
rs587778028
|
0.00013
|
NM_002439.5(MSH3):c.1177G>A (p.Val393Met)
|
rs761779919
|
0.00013
|
NM_002439.5(MSH3):c.1194C>T (p.Gly398=)
|
rs141118996
|
0.00013
|
NM_002439.5(MSH3):c.2336G>A (p.Arg779His)
|
rs199791286
|
0.00013
|
NM_002439.5(MSH3):c.562C>T (p.Arg188Cys)
|
rs147289289
|
0.00013
|
NM_002691.4(POLD1):c.1017G>T (p.Ser339=)
|
rs373404887
|
0.00013
|
NM_002691.4(POLD1):c.2251-8G>A
|
rs56051075
|
0.00013
|
NM_002691.4(POLD1):c.2727G>A (p.Lys909=)
|
rs753176146
|
0.00013
|
NM_002691.4(POLD1):c.371T>C (p.Val124Ala)
|
rs199993010
|
0.00013
|
NM_004360.5(CDH1):c.-49G>T
|
rs564350060
|
0.00013
|
NM_004360.5(CDH1):c.2635G>A (p.Gly879Ser)
|
rs200911775
|
0.00013
|
NM_004655.4(AXIN2):c.1327C>T (p.Leu443=)
|
rs371691797
|
0.00013
|
NM_004655.4(AXIN2):c.144C>T (p.Pro48=)
|
rs144099816
|
0.00013
|
NM_004655.4(AXIN2):c.1712G>A (p.Gly571Asp)
|
rs146744662
|
0.00013
|
NM_004656.4(BAP1):c.1735G>A (p.Gly579Arg)
|
rs370004702
|
0.00013
|
NM_004656.4(BAP1):c.879G>A (p.Pro293=)
|
rs200787553
|
0.00013
|
NM_007194.4(CHEK2):c.7C>T (p.Arg3Trp)
|
rs199708878
|
0.00013
|
NM_007294.4(BRCA1):c.1911T>C (p.Thr637=)
|
rs62625305
|
0.00013
|
NM_007294.4(BRCA1):c.2773A>C (p.Ile925Leu)
|
rs4986847
|
0.00013
|
NM_017763.6(RNF43):c.655C>T (p.Arg219Cys)
|
rs373068965
|
0.00013
|
NM_024675.4(PALB2):c.232G>A (p.Val78Ile)
|
rs515726085
|
0.00013
|
NM_024675.4(PALB2):c.48+7G>C
|
rs190626072
|
0.00013
|
NM_177438.3(DICER1):c.4051-39A>T
|
rs374557615
|
0.00013
|
NM_000038.6(APC):c.1631T>C (p.Ile544Thr)
|
rs144056494
|
0.00012
|
NM_000038.6(APC):c.450A>G (p.Lys150=)
|
rs116020626
|
0.00012
|
NM_000038.6(APC):c.6873A>T (p.Gln2291His)
|
rs148878262
|
0.00012
|
NM_000051.4(ATM):c.4375G>A (p.Gly1459Arg)
|
rs145667735
|
0.00012
|
NM_000057.4(BLM):c.2333C>G (p.Ser778Cys)
|
rs139610577
|
0.00012
|
NM_000059.4(BRCA2):c.1889C>T (p.Thr630Ile)
|
rs80358479
|
0.00012
|
NM_000059.4(BRCA2):c.2919G>A (p.Ser973=)
|
rs45525041
|
0.00012
|
NM_000059.4(BRCA2):c.3055C>G (p.Leu1019Val)
|
rs55638633
|
0.00012
|
NM_000143.4(FH):c.379-15A>T
|
rs374529177
|
0.00012
|
NM_000179.3(MSH6):c.3203G>A (p.Arg1068Gln)
|
rs398123230
|
0.00012
|
NM_000245.4(MET):c.1966-32G>C
|
rs564891216
|
0.00012
|
NM_000249.4(MLH1):c.1050A>G (p.Pro350=)
|
rs137937003
|
0.00012
|
NM_000264.5(PTCH1):c.2671G>A (p.Gly891Ser)
|
rs570091335
|
0.00012
|
NM_000314.8(PTEN):c.1197A>G (p.Gln399=)
|
rs374684043
|
0.00012
|
NM_000465.4(BARD1):c.1152C>T (p.Ser384=)
|
rs368291318
|
0.00012
|
NM_001048174.2(MUTYH):c.1393-17C>G
|
rs199664013
|
0.00012
|
NM_001363763.2(CDKN2A):c.-4+331G>A
|
rs745927507
|
0.00012
|
NM_002439.5(MSH3):c.2044G>C (p.Val682Leu)
|
rs145657887
|
0.00012
|
NM_002439.5(MSH3):c.3072G>C (p.Gln1024His)
|
rs147640909
|
0.00012
|
NM_002691.4(POLD1):c.1495-14G>A
|
rs542376819
|
0.00012
|
NM_004360.5(CDH1):c.1409C>T (p.Thr470Ile)
|
rs370864592
|
0.00012
|
NM_006231.4(POLE):c.1227-49G>A
|
rs373243003
|
0.00012
|
NM_006231.4(POLE):c.1559A>G (p.Gln520Arg)
|
rs780865223
|
0.00012
|
NM_006231.4(POLE):c.6274G>A (p.Gly2092Ser)
|
rs757559474
|
0.00012
|
NM_006231.4(POLE):c.6674G>A (p.Arg2225His)
|
rs538875477
|
0.00012
|
NM_006949.4(STXBP2):c.1393C>T (p.Arg465Cys)
|
rs542557411
|
0.00012
|
NM_007194.4(CHEK2):c.410G>A (p.Arg137Gln)
|
rs368570187
|
0.00012
|
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala)
|
rs80357467
|
0.00012
|
NM_012452.3(TNFRSF13B):c.58C>T (p.Arg20Cys)
|
rs200013015
|
0.00012
|
NM_017763.6(RNF43):c.1302C>T (p.Pro434=)
|
rs201383492
|
0.00012
|
NM_017849.4(TMEM127):c.665C>T (p.Ala222Val)
|
rs373951977
|
0.00012
|
NM_032043.3(BRIP1):c.2564G>A (p.Arg855His)
|
rs200894063
|
0.00012
|
NM_032043.3(BRIP1):c.3069C>T (p.Leu1023=)
|
rs61754142
|
0.00012
|
NM_058216.3(RAD51C):c.200A>G (p.Glu67Gly)
|
rs375451955
|
0.00012
|
NM_058216.3(RAD51C):c.405-22T>G
|
rs201382713
|
0.00012
|
NM_177438.3(DICER1):c.4802A>T (p.Lys1601Met)
|
rs181018393
|
0.00012
|
NM_177438.3(DICER1):c.5643T>C (p.Thr1881=)
|
rs199574382
|
0.00012
|
NM_000038.6(APC):c.7621A>G (p.Ile2541Val)
|
rs587778033
|
0.00011
|
NM_000051.4(ATM):c.1727T>C (p.Ile576Thr)
|
rs730881342
|
0.00011
|
NM_000051.4(ATM):c.5185G>C (p.Val1729Leu)
|
rs3092907
|
0.00011
|
NM_000051.4(ATM):c.5890A>G (p.Lys1964Glu)
|
rs201963507
|
0.00011
|
NM_000051.4(ATM):c.6343G>A (p.Val2115Ile)
|
rs587780634
|
0.00011
|
NM_000051.4(ATM):c.6348-8T>C
|
rs730881292
|
0.00011
|
NM_000051.4(ATM):c.7789-21T>G
|
rs371070275
|
0.00011
|
NM_000051.4(ATM):c.7919C>T (p.Thr2640Ile)
|
rs4988125
|
0.00011
|
NM_000059.4(BRCA2):c.2680G>A (p.Val894Ile)
|
rs28897715
|
0.00011
|
NM_000059.4(BRCA2):c.6317T>C (p.Leu2106Pro)
|
rs56172926
|
0.00011
|
NM_000059.4(BRCA2):c.8633-26A>G
|
rs56268579
|
0.00011
|
NM_000059.4(BRCA2):c.9501+9A>C
|
rs81002867
|
0.00011
|
NM_000143.4(FH):c.132+20C>T
|
rs768086355
|
0.00011
|
NM_000143.4(FH):c.6C>T (p.Tyr2=)
|
rs199971078
|
0.00011
|
NM_000179.3(MSH6):c.3674C>T (p.Thr1225Met)
|
rs63750370
|
0.00011
|
NM_000179.3(MSH6):c.628-7C>A
|
rs373129248
|
0.00011
|
NM_000249.4(MLH1):c.884+16A>G
|
rs377598055
|
0.00011
|
NM_000251.3(MSH2):c.128A>G (p.Tyr43Cys)
|
rs17217723
|
0.00011
|
NM_000251.3(MSH2):c.198C>T (p.Tyr66=)
|
rs730881784
|
0.00011
|
NM_000251.3(MSH2):c.2006-47C>T
|
rs377575976
|
0.00011
|
NM_000251.3(MSH2):c.2203A>G (p.Ile735Val)
|
rs2229061
|
0.00011
|
NM_000251.3(MSH2):c.2785C>T (p.Arg929Ter)
|
rs551060742
|
0.00011
|
NM_000251.3(MSH2):c.508C>G (p.Gln170Glu)
|
rs63750843
|
0.00011
|
NM_000314.8(PTEN):c.-835C>T
|
rs587779994
|
0.00011
|
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr)
|
rs202004587
|
0.00011
|
NM_000314.8(PTEN):c.254-39G>T
|
rs35034871
|
0.00011
|
NM_000455.5(STK11):c.825G>A (p.Pro275=)
|
rs202011521
|
0.00011
|
NM_000535.7(PMS2):c.1559C>T (p.Ala520Val)
|
rs63751300
|
0.00011
|
NM_000546.6(TP53):c.217G>A (p.Val73Met)
|
rs587782423
|
0.00011
|
NM_000546.6(TP53):c.97-9C>T
|
rs202217267
|
0.00011
|
NM_001023.4(RPS20):c.228G>A (p.Thr76=)
|
rs540124601
|
0.00011
|
NM_001048174.2(MUTYH):c.1034C>T (p.Ala345Val)
|
rs35352891
|
0.00011
|
NM_001048174.2(MUTYH):c.1464G>A (p.Pro488=)
|
rs143796254
|
0.00011
|
NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu)
|
rs199422209
|
0.00011
|
NM_002528.7(NTHL1):c.526-11_526-10del
|
rs764393572
|
0.00011
|
NM_002691.4(POLD1):c.1785C>T (p.Asp595=)
|
rs769563176
|
0.00011
|
NM_002691.4(POLD1):c.2669C>T (p.Ala890Val)
|
rs146344351
|
0.00011
|
NM_002691.4(POLD1):c.432C>T (p.Phe144=)
|
rs550836711
|
0.00011
|
NM_002691.4(POLD1):c.521G>A (p.Arg174Gln)
|
rs141976385
|
0.00011
|
NM_002691.4(POLD1):c.574C>T (p.Leu192=)
|
rs374937343
|
0.00011
|
NM_002691.4(POLD1):c.759-34C>G
|
rs375678038
|
0.00011
|
NM_002878.4(RAD51D):c.145-40C>T
|
rs370850037
|
0.00011
|
NM_004329.3(BMPR1A):c.961C>T (p.Leu321=)
|
rs377412651
|
0.00011
|
NM_004329.3(BMPR1A):c.98C>G (p.Thr33Ser)
|
rs142454490
|
0.00011
|
NM_004360.5(CDH1):c.1223C>T (p.Ala408Val)
|
rs138135866
|
0.00011
|
NM_004655.4(AXIN2):c.1882C>T (p.Arg628Trp)
|
rs200201811
|
0.00011
|
NM_004656.4(BAP1):c.1946G>A (p.Cys649Tyr)
|
rs151308667
|
0.00011
|
NM_006231.4(POLE):c.1226+13G>A
|
rs577646338
|
0.00011
|
NM_006231.4(POLE):c.285+13C>A
|
rs76960367
|
0.00011
|
NM_006231.4(POLE):c.4169G>A (p.Arg1390His)
|
rs200776293
|
0.00011
|
NM_006231.4(POLE):c.4660G>A (p.Glu1554Lys)
|
rs143247306
|
0.00011
|
NM_006231.4(POLE):c.6658-7C>A
|
rs531482240
|
0.00011
|
NM_007294.4(BRCA1):c.1065G>A (p.Lys355=)
|
rs41286292
|
0.00011
|
NM_007294.4(BRCA1):c.2002C>T (p.Leu668Phe)
|
rs80357250
|
0.00011
|
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys)
|
rs41286300
|
0.00011
|
NM_007294.4(BRCA1):c.3823A>G (p.Ile1275Val)
|
rs80357280
|
0.00011
|
NM_007294.4(BRCA1):c.441+18C>T
|
rs371973519
|
0.00011
|
NM_007294.4(BRCA1):c.5158A>G (p.Thr1720Ala)
|
rs56195342
|
0.00011
|
NM_007294.4(BRCA1):c.693G>A (p.Thr231=)
|
rs62625298
|
0.00011
|
NM_012452.3(TNFRSF13B):c.797C>T (p.Thr266Ile)
|
rs752825527
|
0.00011
|
NM_015450.3(POT1):c.1686+32A>G
|
rs749702835
|
0.00011
|
NM_016169.4(SUFU):c.1232C>T (p.Thr411Met)
|
rs368020224
|
0.00011
|
NM_020975.6(RET):c.1522+35C>T
|
rs377130948
|
0.00011
|
NM_024675.4(PALB2):c.1250C>A (p.Ser417Tyr)
|
rs45510998
|
0.00011
|
NM_032043.3(BRIP1):c.3444C>A (p.Asp1148Glu)
|
rs28997573
|
0.00011
|
NM_032638.5(GATA2):c.30G>T (p.Trp10Cys)
|
rs367785289
|
0.00011
|
NM_058216.3(RAD51C):c.*25C>G
|
rs28363336
|
0.00011
|
NM_139276.3(STAT3):c.2228G>T (p.Gly743Val)
|
rs151033214
|
0.00011
|
NM_177438.3(DICER1):c.-20A>G
|
rs370105837
|
0.00011
|
NM_177438.3(DICER1):c.1377-25T>A
|
rs370631119
|
0.00011
|
NM_177438.3(DICER1):c.4804G>A (p.Ala1602Thr)
|
rs145669719
|
0.00011
|
NM_000038.6(APC):c.388A>G (p.Ser130Gly)
|
rs150973053
|
0.00010
|
NM_000038.6(APC):c.4918C>T (p.Arg1640Trp)
|
rs373440614
|
0.00010
|
NM_000051.4(ATM):c.1703G>T (p.Arg568Ile)
|
rs200381392
|
0.00010
|
NM_000051.4(ATM):c.7789-15G>C
|
rs781449587
|
0.00010
|
NM_000059.4(BRCA2):c.10045A>G (p.Thr3349Ala)
|
rs80358387
|
0.00010
|
NM_000059.4(BRCA2):c.8633-16C>G
|
rs81002818
|
0.00010
|
NM_000143.4(FH):c.217G>A (p.Val73Met)
|
rs201878591
|
0.00010
|
NM_000143.4(FH):c.33G>C (p.Ser11=)
|
rs200542051
|
0.00010
|
NM_000179.3(MSH6):c.1729C>T (p.Arg577Cys)
|
rs542838372
|
0.00010
|
NM_000179.3(MSH6):c.1875C>T (p.Ser625=)
|
rs63749886
|
0.00010
|
NM_000179.3(MSH6):c.2417C>G (p.Ser806Cys)
|
rs372990379
|
0.00010
|
NM_000179.3(MSH6):c.3245C>T (p.Pro1082Leu)
|
rs191109849
|
0.00010
|
NM_000179.3(MSH6):c.3788G>A (p.Arg1263His)
|
rs147852216
|
0.00010
|
NM_000249.4(MLH1):c.1964T>C (p.Ile655Thr)
|
rs63751225
|
0.00010
|
NM_000251.3(MSH2):c.1386+23T>G
|
rs747646424
|
0.00010
|
NM_000251.3(MSH2):c.2210+7G>T
|
rs374675118
|
0.00010
|
NM_000264.5(PTCH1):c.1809C>T (p.Arg603=)
|
rs145690756
|
0.00010
|
NM_000455.5(STK11):c.787T>C (p.Leu263=)
|
rs372378119
|
0.00010
|
NM_000465.4(BARD1):c.2002-11C>T
|
rs187240320
|
0.00010
|
NM_000535.7(PMS2):c.379G>A (p.Ala127Thr)
|
rs114090343
|
0.00010
|
NM_000546.6(TP53):c.673-37C>T
|
rs374907737
|
0.00010
|
NM_000551.4(VHL):c.598C>T (p.Arg200Trp)
|
rs28940298
|
0.00010
|
NM_001040108.2(MLH3):c.2638C>G (p.Leu880Val)
|
rs201453923
|
0.00010
|
NM_001040108.2(MLH3):c.3367C>T (p.Gln1123Ter)
|
rs151133595
|
0.00010
|
NM_001040108.2(MLH3):c.3636C>T (p.Gly1212=)
|
rs571755678
|
0.00010
|
NM_001048174.2(MUTYH):c.-6-7G>A
|
rs780029247
|
0.00010
|
NM_001048174.2(MUTYH):c.397G>C (p.Asp133His)
|
rs564930066
|
0.00010
|
NM_001364905.1(LRBA):c.6827G>A (p.Arg2276His)
|
rs200802435
|
0.00010
|
NM_002439.5(MSH3):c.2010C>T (p.Thr670=)
|
rs201724154
|
0.00010
|
NM_002439.5(MSH3):c.2180G>A (p.Arg727Gln)
|
rs148896355
|
0.00010
|
NM_002439.5(MSH3):c.3000T>G (p.Asp1000Glu)
|
rs139205893
|
0.00010
|
NM_002439.5(MSH3):c.316C>G (p.Gln106Glu)
|
rs149350323
|
0.00010
|
NM_002528.7(NTHL1):c.115+17G>A
|
rs377258199
|
0.00010
|
NM_002691.4(POLD1):c.102C>T (p.Phe34=)
|
rs754716741
|
0.00010
|
NM_002691.4(POLD1):c.1731C>T (p.Gly577=)
|
rs376473853
|
0.00010
|
NM_002691.4(POLD1):c.2953+38G>C
|
rs370217646
|
0.00010
|
NM_002691.4(POLD1):c.355C>T (p.Arg119Cys)
|
rs747614571
|
0.00010
|
NM_002691.4(POLD1):c.666G>A (p.Pro222=)
|
rs746678748
|
0.00010
|
NM_002878.4(RAD51D):c.137C>G (p.Ser46Cys)
|
rs587780102
|
0.00010
|
NM_003000.3(SDHB):c.113G>A (p.Arg38His)
|
rs143058777
|
0.00010
|
NM_004655.4(AXIN2):c.1907+17G>A
|
rs201487132
|
0.00010
|
NM_004655.4(AXIN2):c.2142-20C>T
|
rs764171738
|
0.00010
|
NM_005359.6(SMAD4):c.*12G>A
|
rs148687037
|
0.00010
|
NM_005359.6(SMAD4):c.21G>A (p.Thr7=)
|
rs142292491
|
0.00010
|
NM_005359.6(SMAD4):c.424+5G>A
|
rs200772603
|
0.00010
|
NM_005359.6(SMAD4):c.454+38G>C
|
rs201924714
|
0.00010
|
NM_006231.4(POLE):c.2773T>C (p.Ser925Pro)
|
rs141552148
|
0.00010
|
NM_006231.4(POLE):c.556G>A (p.Ala186Thr)
|
rs375213599
|
0.00010
|
NM_006231.4(POLE):c.6531+6G>T
|
rs774747998
|
0.00010
|
NM_006231.4(POLE):c.6730C>T (p.Leu2244Phe)
|
rs375741031
|
0.00010
|
NM_006231.4(POLE):c.718G>A (p.Val240Met)
|
rs371882716
|
0.00010
|
NM_007294.4(BRCA1):c.4097-28A>G
|
rs869320777
|
0.00010
|
NM_007294.4(BRCA1):c.594-34T>C
|
rs147314539
|
0.00010
|
NM_015450.3(POT1):c.771A>T (p.Thr257=)
|
rs762679439
|
0.00010
|
NM_017763.6(RNF43):c.434G>A (p.Arg145Gln)
|
rs151209912
|
0.00010
|
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)
|
rs137852986
|
0.00010
|
NM_058216.3(RAD51C):c.431T>C (p.Ile144Thr)
|
rs28363307
|
0.00010
|
NM_177438.3(DICER1):c.*20A>G
|
rs200095508
|
0.00010
|
NM_177438.3(DICER1):c.3773T>C (p.Met1258Thr)
|
rs144095207
|
0.00010
|
NM_177438.3(DICER1):c.3791C>T (p.Thr1264Met)
|
rs139346443
|
0.00010
|
NM_177438.3(DICER1):c.439-7A>T
|
rs376762569
|
0.00010
|
NM_000038.6(APC):c.1958+10G>T
|
rs375175370
|
0.00009
|
NM_000038.6(APC):c.2586C>G (p.Asn862Lys)
|
rs147972247
|
0.00009
|
NM_000038.6(APC):c.3786T>C (p.Tyr1262=)
|
rs147411334
|
0.00009
|
NM_000038.6(APC):c.645+50A>G
|
rs377697545
|
0.00009
|
NM_000038.6(APC):c.6525A>G (p.Thr2175=)
|
rs200151646
|
0.00009
|
NM_000038.6(APC):c.95A>G (p.Asn32Ser)
|
rs539108537
|
0.00009
|
NM_000051.4(ATM):c.4414T>G (p.Leu1472Val)
|
rs539676759
|
0.00009
|
NM_000051.4(ATM):c.5005+7_5005+8del
|
rs587780626
|
0.00009
|
NM_000051.4(ATM):c.5583G>A (p.Leu1861=)
|
rs781383087
|
0.00009
|
NM_000051.4(ATM):c.670A>G (p.Lys224Glu)
|
rs145053092
|
0.00009
|
NM_000053.4(ATP7B):c.2336G>A (p.Trp779Ter)
|
rs137853283
|
0.00009
|
NM_000059.4(BRCA2):c.1568A>G (p.His523Arg)
|
rs80358443
|
0.00009
|
NM_000059.4(BRCA2):c.2538A>C (p.Ser846=)
|
rs11571654
|
0.00009
|
NM_000059.4(BRCA2):c.3218A>G (p.Gln1073Arg)
|
rs80358566
|
0.00009
|
NM_000059.4(BRCA2):c.4314C>T (p.Val1438=)
|
rs730881590
|
0.00009
|
NM_000059.4(BRCA2):c.4614T>C (p.Ser1538=)
|
rs45520945
|
0.00009
|
NM_000059.4(BRCA2):c.4656T>C (p.Gly1552=)
|
rs41293491
|
0.00009
|
NM_000059.4(BRCA2):c.4977C>T (p.Ser1659=)
|
rs45484897
|
0.00009
|
NM_000059.4(BRCA2):c.516+18T>C
|
rs81002834
|
0.00009
|
NM_000059.4(BRCA2):c.5455C>T (p.Pro1819Ser)
|
rs80358768
|
0.00009
|
NM_000059.4(BRCA2):c.6338A>G (p.Asn2113Ser)
|
rs80358874
|
0.00009
|
NM_000059.4(BRCA2):c.7435+23A>G
|
rs761412178
|
0.00009
|
NM_000059.4(BRCA2):c.7601C>T (p.Ala2534Val)
|
rs74047012
|
0.00009
|
NM_000153.4(GALC):c.1586C>T (p.Thr529Met)
|
rs200960659
|
0.00009
|
NM_000179.3(MSH6):c.3024C>T (p.Thr1008=)
|
rs587780675
|
0.00009
|
NM_000179.3(MSH6):c.3172+20T>C
|
rs3136335
|
0.00009
|
NM_000179.3(MSH6):c.3439-10T>A
|
rs730881819
|
0.00009
|
NM_000179.3(MSH6):c.3727A>T (p.Thr1243Ser)
|
rs147453999
|
0.00009
|
NM_000179.3(MSH6):c.660A>C (p.Glu220Asp)
|
rs1800938
|
0.00009
|
NM_000245.4(MET):c.110T>C (p.Val37Ala)
|
rs201315884
|
0.00009
|
NM_000245.4(MET):c.1863-12T>G
|
rs35189619
|
0.00009
|
NM_000245.4(MET):c.3236A>G (p.His1079Arg)
|
rs758292223
|
0.00009
|
NM_000249.4(MLH1):c.1808C>G (p.Pro603Arg)
|
rs63750876
|
0.00009
|
NM_000251.3(MSH2):c.-29C>T
|
rs199841800
|
0.00009
|
NM_000251.3(MSH2):c.317G>A (p.Arg106Lys)
|
rs41295286
|
0.00009
|
NM_000264.5(PTCH1):c.3531C>T (p.Phe1177=)
|
rs587780702
|
0.00009
|
NM_000264.5(PTCH1):c.3816C>T (p.Pro1272=)
|
rs369295226
|
0.00009
|
NM_000268.4(NF2):c.1206C>T (p.Ala402=)
|
rs137953976
|
0.00009
|
NM_000388.4(CASR):c.1510G>A (p.Val504Met)
|
rs201536450
|
0.00009
|
NM_000455.5(STK11):c.735-9G>A
|
rs201899557
|
0.00009
|
NM_000455.5(STK11):c.863-14C>T
|
rs756001994
|
0.00009
|
NM_000465.4(BARD1):c.1059C>G (p.Pro353=)
|
rs368649242
|
0.00009
|
NM_000465.4(BARD1):c.1694G>A (p.Arg565His)
|
rs146946984
|
0.00009
|
NM_000546.6(TP53):c.847C>T (p.Arg283Cys)
|
rs149633775
|
0.00009
|
NM_000551.4(VHL):c.340+742G>T
|
rs186099278
|
0.00009
|
NM_000791.4(DHFR):c.-334T>G
|
rs145429648
|
0.00009
|
NM_001040108.2(MLH3):c.2356G>A (p.Val786Ile)
|
rs372089146
|
0.00009
|
NM_001040108.2(MLH3):c.2435G>C (p.Ser812Thr)
|
rs763408801
|
0.00009
|
NM_001040108.2(MLH3):c.3827+39A>G
|
rs567086056
|
0.00009
|
NM_001048174.2(MUTYH):c.583A>G (p.Ile195Val)
|
rs200872702
|
0.00009
|
NM_001048174.2(MUTYH):c.606+14C>G
|
rs752537118
|
0.00009
|
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His)
|
rs140342925
|
0.00009
|
NM_001082486.2(ACD):c.488A>G (p.Asn163Ser)
|
rs370512338
|
0.00009
|
NM_001283009.2(RTEL1):c.2956C>T (p.Arg986Ter)
|
rs373740199
|
0.00009
|
NM_001370259.2(MEN1):c.511C>T (p.Arg171Trp)
|
rs143329068
|
0.00009
|
NM_001374385.1(ATP8B1):c.1982T>C (p.Ile661Thr)
|
rs121909100
|
0.00009
|
NM_002528.7(NTHL1):c.-20G>T
|
rs749337739
|
0.00009
|
NM_002528.7(NTHL1):c.115+10C>A
|
rs756945300
|
0.00009
|
NM_002528.7(NTHL1):c.607C>T (p.Leu203=)
|
rs369076851
|
0.00009
|
NM_002528.7(NTHL1):c.746A>G (p.Lys249Arg)
|
rs373067940
|
0.00009
|
NM_002691.4(POLD1):c.1593C>T (p.Asn531=)
|
rs757383245
|
0.00009
|
NM_002691.4(POLD1):c.1626C>T (p.Pro542=)
|
rs201208120
|
0.00009
|
NM_002878.4(RAD51D):c.145-47G>C
|
rs367563429
|
0.00009
|
NM_002878.4(RAD51D):c.196G>A (p.Val66Met)
|
rs56026142
|
0.00009
|
NM_002878.4(RAD51D):c.82+32G>A
|
rs368396213
|
0.00009
|
NM_002878.4(RAD51D):c.864C>T (p.Gly288=)
|
rs138557828
|
0.00009
|
NM_004168.4(SDHA):c.1661G>A (p.Arg554Gln)
|
rs376391115
|
0.00009
|
NM_004329.3(BMPR1A):c.1348G>A (p.Val450Met)
|
rs55932635
|
0.00009
|
NM_004360.5(CDH1):c.1138-44G>A
|
rs374676556
|
0.00009
|
NM_004360.5(CDH1):c.1359C>T (p.His453=)
|
rs114861467
|
0.00009
|
NM_004360.5(CDH1):c.2644G>A (p.Asp882Asn)
|
rs200104963
|
0.00009
|
NM_004655.4(AXIN2):c.2406-8C>G
|
rs143905290
|
0.00009
|
NM_004656.4(BAP1):c.1116+40C>T
|
rs373554042
|
0.00009
|
NM_004656.4(BAP1):c.1872G>A (p.Gly624=)
|
rs375950004
|
0.00009
|
NM_005720.4(ARPC1B):c.51C>G (p.Asn17Lys)
|
rs142972568
|
0.00009
|
NM_006231.4(POLE):c.1905C>T (p.Ile635=)
|
rs145203544
|
0.00009
|
NM_006231.4(POLE):c.3049C>T (p.Leu1017=)
|
rs371831931
|
0.00009
|
NM_006231.4(POLE):c.4047G>A (p.Ala1349=)
|
rs201746181
|
0.00009
|
NM_006231.4(POLE):c.4055G>C (p.Gly1352Ala)
|
rs147088333
|
0.00009
|
NM_006231.4(POLE):c.431A>G (p.His144Arg)
|
rs755709875
|
0.00009
|
NM_006231.4(POLE):c.4719C>T (p.Leu1573=)
|
rs115219846
|
0.00009
|
NM_006231.4(POLE):c.4889G>A (p.Arg1630Gln)
|
rs750180239
|
0.00009
|
NM_007194.4(CHEK2):c.*7T>C
|
rs121908710
|
0.00009
|
NM_007194.4(CHEK2):c.1095+19G>A
|
rs200020484
|
0.00009
|
NM_007194.4(CHEK2):c.1217G>A (p.Arg406His)
|
rs200649225
|
0.00009
|
NM_007194.4(CHEK2):c.319+2T>A
|
rs587782401
|
0.00009
|
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly)
|
rs28909982
|
0.00009
|
NM_007194.4(CHEK2):c.444+1G>A
|
rs121908698
|
0.00009
|
NM_007194.4(CHEK2):c.556A>C (p.Asn186His)
|
rs146198085
|
0.00009
|
NM_007294.4(BRCA1):c.2352G>A (p.Ser784=)
|
rs372017932
|
0.00009
|
NM_007294.4(BRCA1):c.314A>G (p.Tyr105Cys)
|
rs28897673
|
0.00009
|
NM_007294.4(BRCA1):c.5152+20T>A
|
rs376836050
|
0.00009
|
NM_015450.3(POT1):c.9+6A>G
|
rs750242979
|
0.00009
|
NM_016169.4(SUFU):c.1272C>T (p.Tyr424=)
|
rs771084342
|
0.00009
|
NM_017763.6(RNF43):c.873C>A (p.Leu291=)
|
rs148147597
|
0.00009
|
NM_020975.6(RET):c.2940-45C>T
|
rs370072408
|
0.00009
|
NM_020975.6(RET):c.961G>A (p.Gly321Arg)
|
rs377767388
|
0.00009
|
NM_024675.4(PALB2):c.12T>C (p.Pro4=)
|
rs567706422
|
0.00009
|
NM_024675.4(PALB2):c.1544A>G (p.Lys515Arg)
|
rs515726072
|
0.00009
|
NM_024675.4(PALB2):c.2586+30G>A
|
rs769118926
|
0.00009
|
NM_024675.4(PALB2):c.3251C>T (p.Ser1084Leu)
|
rs62625271
|
0.00009
|
NM_024675.4(PALB2):c.3508C>T (p.His1170Tyr)
|
rs200283306
|
0.00009
|
NM_058216.3(RAD51C):c.506T>C (p.Val169Ala)
|
rs587780256
|
0.00009
|
NM_144997.7(FLCN):c.1539-6C>T
|
rs779028759
|
0.00009
|
NM_177438.3(DICER1):c.1752+38A>G
|
rs1242183535
|
0.00009
|
NM_177438.3(DICER1):c.2257-26C>T
|
rs187698827
|
0.00009
|
NM_177438.3(DICER1):c.5527+7T>A
|
rs375239471
|
0.00009
|
NM_000038.6(APC):c.-19+509G>A
|
rs745770540
|
0.00008
|
NM_000038.6(APC):c.6724A>G (p.Ser2242Gly)
|
rs201375478
|
0.00008
|
NM_000038.6(APC):c.721G>A (p.Glu241Lys)
|
rs777603154
|
0.00008
|
NM_000051.4(ATM):c.2466+7A>G
|
rs55812024
|
0.00008
|
NM_000059.4(BRCA2):c.5635G>A (p.Glu1879Lys)
|
rs55996097
|
0.00008
|
NM_000059.4(BRCA2):c.6748A>G (p.Thr2250Ala)
|
rs80358899
|
0.00008
|
NM_000059.4(BRCA2):c.9501+3A>T
|
rs61757642
|
0.00008
|
NM_000179.3(MSH6):c.1474A>G (p.Met492Val)
|
rs61754783
|
0.00008
|
NM_000179.3(MSH6):c.2281A>G (p.Arg761Gly)
|
rs199876321
|
0.00008
|
NM_000245.4(MET):c.3497G>A (p.Arg1166Gln)
|
rs199763277
|
0.00008
|
NM_000249.4(MLH1):c.1558+5G>A
|
rs199935667
|
0.00008
|
NM_000249.4(MLH1):c.1742C>T (p.Pro581Leu)
|
rs63751684
|
0.00008
|
NM_000251.3(MSH2):c.1488A>G (p.Leu496=)
|
rs267607960
|
0.00008
|
NM_000251.3(MSH2):c.1690A>G (p.Thr564Ala)
|
rs55778204
|
0.00008
|
NM_000251.3(MSH2):c.2500G>A (p.Ala834Thr)
|
rs63750757
|
0.00008
|
NM_000251.3(MSH2):c.4G>A (p.Ala2Thr)
|
rs63750466
|
0.00008
|
NM_000264.5(PTCH1):c.4302C>T (p.Asp1434=)
|
rs201357130
|
0.00008
|
NM_000354.6(SERPINA7):c.1163A>G (p.Asp388Gly)
|
rs143311397
|
0.00008
|
NM_000455.5(STK11):c.598-7G>A
|
rs377502057
|
0.00008
|
NM_000465.4(BARD1):c.1339C>G (p.Leu447Val)
|
rs376727038
|
0.00008
|
NM_000465.4(BARD1):c.1409A>G (p.Asn470Ser)
|
rs587781976
|
0.00008
|
NM_000535.7(PMS2):c.164-48A>G
|
rs779666340
|
0.00008
|
NM_000535.7(PMS2):c.2127C>T (p.Phe709=)
|
rs199943748
|
0.00008
|
NM_000546.6(TP53):c.559+24C>T
|
rs56181208
|
0.00008
|
NM_000551.4(VHL):c.5C>T (p.Pro2Leu)
|
rs111246617
|
0.00008
|
NM_000969.5(RPL5):c.418G>A (p.Gly140Ser)
|
rs121434406
|
0.00008
|
NM_001048174.2(MUTYH):c.1333G>A (p.Ala445Thr)
|
rs192816572
|
0.00008
|
NM_001048174.2(MUTYH):c.1400G>A (p.Arg467His)
|
rs144111588
|
0.00008
|
NM_001048174.2(MUTYH):c.901G>A (p.Val301Met)
|
rs147718169
|
0.00008
|
NM_001082486.2(ACD):c.493+7T>C
|
rs199626332
|
0.00008
|
NM_001082486.2(ACD):c.962C>T (p.Ser321Leu)
|
rs374925782
|
0.00008
|
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His)
|
rs201540674
|
0.00008
|
NM_002528.7(NTHL1):c.769G>A (p.Ala257Thr)
|
rs148474733
|
0.00008
|
NM_002691.4(POLD1):c.2317G>A (p.Ala773Thr)
|
rs753865441
|
0.00008
|
NM_002691.4(POLD1):c.2565-24G>A
|
rs373040718
|
0.00008
|
NM_002878.4(RAD51D):c.355T>C (p.Cys119Arg)
|
rs201313861
|
0.00008
|
NM_003001.5(SDHC):c.405+13G>A
|
rs369274171
|
0.00008
|
NM_004360.5(CDH1):c.1020G>A (p.Thr340=)
|
rs61747632
|
0.00008
|
NM_004360.5(CDH1):c.164T>G (p.Val55Gly)
|
rs587778174
|
0.00008
|
NM_004655.4(AXIN2):c.475G>T (p.Asp159Tyr)
|
rs753036084
|
0.00008
|
NM_004656.4(BAP1):c.642C>T (p.Ile214=)
|
rs200953639
|
0.00008
|
NM_005359.6(SMAD4):c.852A>G (p.Gln284=)
|
rs144378484
|
0.00008
|
NM_006231.4(POLE):c.2481C>T (p.Tyr827=)
|
rs149513974
|
0.00008
|
NM_006231.4(POLE):c.3378+7G>T
|
rs755370377
|
0.00008
|
NM_006231.4(POLE):c.4101C>T (p.Tyr1367=)
|
rs780694561
|
0.00008
|
NM_006231.4(POLE):c.5480C>T (p.Ser1827Leu)
|
rs763031537
|
0.00008
|
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr)
|
rs531398630
|
0.00008
|
NM_007194.4(CHEK2):c.134C>T (p.Thr45Met)
|
rs558321010
|
0.00008
|
NM_007194.4(CHEK2):c.1597A>G (p.Thr533Ala)
|
rs562517792
|
0.00008
|
NM_007294.4(BRCA1):c.4644G>A (p.Thr1548=)
|
rs28897692
|
0.00008
|
NM_020461.4(TUBGCP6):c.5263_5273dup (p.Arg1763fs)
|
rs775659848
|
0.00008
|
NM_024529.5(CDC73):c.1067-23A>T
|
rs750567180
|
0.00008
|
NM_058216.3(RAD51C):c.-19G>A
|
rs375889604
|
0.00008
|
NM_144997.7(FLCN):c.687C>T (p.Phe229=)
|
rs754710935
|
0.00008
|
NM_000038.6(APC):c.3624C>T (p.Thr1208=)
|
rs730882125
|
0.00007
|
NM_000038.6(APC):c.4533C>T (p.Leu1511=)
|
rs150089434
|
0.00007
|
NM_000038.6(APC):c.729+31A>G
|
rs374626709
|
0.00007
|
NM_000038.6(APC):c.7717A>G (p.Ile2573Val)
|
rs145444830
|
0.00007
|
NM_000038.6(APC):c.8389A>G (p.Ser2797Gly)
|
rs147287751
|
0.00007
|
NM_000051.4(ATM):c.2021A>G (p.His674Arg)
|
rs201762714
|
0.00007
|
NM_000051.4(ATM):c.902G>A (p.Gly301Asp)
|
rs202208861
|
0.00007
|
NM_000059.4(BRCA2):c.1167G>A (p.Pro389=)
|
rs148607710
|
0.00007
|
NM_000059.4(BRCA2):c.1644G>A (p.Gln548=)
|
rs55986646
|
0.00007
|
NM_000059.4(BRCA2):c.3568C>T (p.Arg1190Trp)
|
rs80358604
|
0.00007
|
NM_000059.4(BRCA2):c.3839A>T (p.Asp1280Val)
|
rs56337919
|
0.00007
|
NM_000059.4(BRCA2):c.8953+16C>T
|
rs81002892
|
0.00007
|
NM_000093.5(COL5A1):c.65C>G (p.Pro22Arg)
|
rs863223467
|
0.00007
|
NM_000179.3(MSH6):c.2384T>C (p.Ile795Thr)
|
rs202127474
|
0.00007
|
NM_000245.4(MET):c.1862C>T (p.Thr621Ile)
|
rs375951814
|
0.00007
|
NM_000249.4(MLH1):c.1379A>C (p.Glu460Ala)
|
rs202038499
|
0.00007
|
NM_000249.4(MLH1):c.277A>G (p.Ser93Gly)
|
rs41295282
|
0.00007
|
NM_000249.4(MLH1):c.545+19G>T
|
rs41285099
|
0.00007
|
NM_000249.4(MLH1):c.545+43C>G
|
rs267607761
|
0.00007
|
NM_000249.4(MLH1):c.649C>T (p.Arg217Cys)
|
rs4986984
|
0.00007
|
NM_000251.3(MSH2):c.1045C>G (p.Pro349Ala)
|
rs267607939
|
0.00007
|
NM_000251.3(MSH2):c.1560A>G (p.Gly520=)
|
rs63750820
|
0.00007
|
NM_000251.3(MSH2):c.2732T>G (p.Leu911Arg)
|
rs41295182
|
0.00007
|
NM_000264.5(PTCH1):c.3241G>A (p.Val1081Met)
|
rs587778629
|
0.00007
|
NM_000388.4(CASR):c.2356A>G (p.Ile786Val)
|
rs371882068
|
0.00007
|
NM_000388.4(CASR):c.848T>C (p.Ile283Thr)
|
rs142745096
|
0.00007
|
NM_000455.5(STK11):c.*16+12C>T
|
rs730881966
|
0.00007
|
NM_000455.5(STK11):c.357C>T (p.Asn119=)
|
rs372511774
|
0.00007
|
NM_000455.5(STK11):c.734+20G>A
|
rs375315233
|
0.00007
|
NM_000518.5(HBB):c.92+6T>C
|
rs35724775
|
0.00007
|
NM_000535.7(PMS2):c.2068A>C (p.Lys690Gln)
|
rs587781909
|
0.00007
|
NM_000535.7(PMS2):c.230A>C (p.Glu77Ala)
|
rs777095030
|
0.00007
|
NM_000535.7(PMS2):c.2446-45G>A
|
rs1017915874
|
0.00007
|
NM_000535.7(PMS2):c.2559C>G (p.Ile853Met)
|
rs371673459
|
0.00007
|
NM_000535.7(PMS2):c.384G>A (p.Ser128=)
|
rs371342884
|
0.00007
|
NM_001040108.2(MLH3):c.4268G>A (p.Arg1423His)
|
rs752635498
|
0.00007
|
NM_002439.5(MSH3):c.1028-30A>G
|
rs56116918
|
0.00007
|
NM_002439.5(MSH3):c.2695A>G (p.Met899Val)
|
rs756956247
|
0.00007
|
NM_002439.5(MSH3):c.3131-17C>T
|
rs369935724
|
0.00007
|
NM_002528.7(NTHL1):c.685+17G>A
|
rs553209172
|
0.00007
|
NM_002691.4(POLD1):c.1503C>T (p.Asn501=)
|
rs371647100
|
0.00007
|
NM_002691.4(POLD1):c.2178G>C (p.Gln726His)
|
rs747483140
|
0.00007
|
NM_002691.4(POLD1):c.607G>A (p.Gly203Arg)
|
rs369896998
|
0.00007
|
NM_003000.3(SDHB):c.178A>G (p.Thr60Ala)
|
rs34599281
|
0.00007
|
NM_003000.3(SDHB):c.225T>C (p.Ala75=)
|
rs201762207
|
0.00007
|
NM_004064.5(CDKN1B):c.234G>A (p.Glu78=)
|
rs751794433
|
0.00007
|
NM_004069.6(AP2S1):c.327+8C>T
|
rs367711427
|
0.00007
|
NM_004329.3(BMPR1A):c.499A>G (p.Met167Val)
|
rs200951235
|
0.00007
|
NM_004360.5(CDH1):c.1297G>A (p.Asp433Asn)
|
rs199886166
|
0.00007
|
NM_004360.5(CDH1):c.1298A>G (p.Asp433Gly)
|
rs376097289
|
0.00007
|
NM_004360.5(CDH1):c.1710T>C (p.Asn570=)
|
rs202115589
|
0.00007
|
NM_004655.4(AXIN2):c.2182G>A (p.Ala728Thr)
|
rs141260153
|
0.00007
|
NM_004656.4(BAP1):c.1749G>A (p.Ser583=)
|
rs147775249
|
0.00007
|
NM_006231.4(POLE):c.6111C>T (p.Ala2037=)
|
rs541439106
|
0.00007
|
NM_007194.4(CHEK2):c.1421G>A (p.Arg474His)
|
rs121908706
|
0.00007
|
NM_007294.4(BRCA1):c.1865C>T (p.Ala622Val)
|
rs56039126
|
0.00007
|
NM_007294.4(BRCA1):c.3783A>G (p.Leu1261=)
|
rs80356831
|
0.00007
|
NM_007294.4(BRCA1):c.5332+13G>T
|
rs372391060
|
0.00007
|
NM_144997.7(FLCN):c.552C>A (p.Asn184Lys)
|
rs143525924
|
0.00007
|
NM_144997.7(FLCN):c.802C>T (p.Arg268Trp)
|
rs762370059
|
0.00007
|
NM_177438.3(DICER1):c.1692G>A (p.Ala564=)
|
rs143117334
|
0.00007
|
NM_177438.3(DICER1):c.179C>T (p.Thr60Ile)
|
rs587778228
|
0.00007
|
NM_177438.3(DICER1):c.4050+8A>G
|
rs746668314
|
0.00007
|
NM_177438.3(DICER1):c.439-32A>G
|
rs369801468
|
0.00007
|
NM_177438.3(DICER1):c.5276A>G (p.Lys1759Arg)
|
rs144259142
|
0.00007
|
NM_199242.3(UNC13D):c.794C>G (p.Pro265Arg)
|
rs200265541
|
0.00007
|
NC_000005.10:g.112707468T>G
|
rs538243333
|
0.00006
|
NM_000038.6(APC):c.1005A>G (p.Leu335=)
|
rs3797704
|
0.00006
|
NM_000038.6(APC):c.1139G>A (p.Arg380Gln)
|
rs587782886
|
0.00006
|
NM_000038.6(APC):c.1193A>G (p.Lys398Arg)
|
rs145912662
|
0.00006
|
NM_000038.6(APC):c.221-41A>G
|
rs183515660
|
0.00006
|
NM_000038.6(APC):c.2527A>G (p.Ser843Gly)
|
rs536223189
|
0.00006
|
NM_000038.6(APC):c.5026A>G (p.Arg1676Gly)
|
rs370560998
|
0.00006
|
NM_000038.6(APC):c.5140G>A (p.Asp1714Asn)
|
rs148275069
|
0.00006
|
NM_000038.6(APC):c.7399C>A (p.Pro2467Thr)
|
rs372305287
|
0.00006
|
NM_000038.6(APC):c.7929A>G (p.Leu2643=)
|
rs138796072
|
0.00006
|
NM_000051.4(ATM):c.1010G>A (p.Arg337His)
|
rs202160435
|
0.00006
|
NM_000051.4(ATM):c.115A>G (p.Thr39Ala)
|
rs779297339
|
0.00006
|
NM_000051.4(ATM):c.3689A>G (p.Asn1230Ser)
|
rs587782195
|
0.00006
|
NM_000051.4(ATM):c.610G>A (p.Gly204Arg)
|
rs147915571
|
0.00006
|
NM_000051.4(ATM):c.7062G>A (p.Ala2354=)
|
rs143489373
|
0.00006
|
NM_000051.4(ATM):c.7521C>T (p.Asp2507=)
|
rs751234924
|
0.00006
|
NM_000051.4(ATM):c.8921C>T (p.Pro2974Leu)
|
rs139379666
|
0.00006
|
NM_000059.4(BRCA2):c.1011C>T (p.Asn337=)
|
rs41293473
|
0.00006
|
NM_000059.4(BRCA2):c.1362A>G (p.Lys454=)
|
rs55919657
|
0.00006
|
NM_000059.4(BRCA2):c.1662T>G (p.Cys554Trp)
|
rs80358451
|
0.00006
|
NM_000059.4(BRCA2):c.2490C>T (p.Asn830=)
|
rs56331088
|
0.00006
|
NM_000059.4(BRCA2):c.3715A>G (p.Lys1239Glu)
|
rs374191973
|
0.00006
|
NM_000059.4(BRCA2):c.4828G>A (p.Val1610Met)
|
rs80358705
|
0.00006
|
NM_000059.4(BRCA2):c.6325G>A (p.Val2109Ile)
|
rs79456940
|
0.00006
|
NM_000059.4(BRCA2):c.831T>G (p.Asn277Lys)
|
rs28897705
|
0.00006
|
NM_000059.4(BRCA2):c.8662C>T (p.Arg2888Cys)
|
rs80359123
|
0.00006
|
NM_000077.5(CDKN2A):c.150+27A>C
|
rs762508111
|
0.00006
|
NM_000135.4(FANCA):c.862G>T (p.Glu288Ter)
|
rs148100796
|
0.00006
|
NM_000137.4(FAH):c.1009G>A (p.Gly337Ser)
|
rs80338900
|
0.00006
|
NM_000179.3(MSH6):c.1050C>T (p.Ala350=)
|
rs730881802
|
0.00006
|
NM_000179.3(MSH6):c.178T>C (p.Leu60=)
|
rs35819209
|
0.00006
|
NM_000179.3(MSH6):c.3986C>T (p.Ser1329Leu)
|
rs199594809
|
0.00006
|
NM_000245.4(MET):c.12C>T (p.Pro4=)
|
rs772251895
|
0.00006
|
NM_000245.4(MET):c.3168T>C (p.Ser1056=)
|
rs376069508
|
0.00006
|
NM_000245.4(MET):c.3811G>A (p.Val1271Met)
|
rs751186512
|
0.00006
|
NM_000249.4(MLH1):c.1013A>G (p.Asn338Ser)
|
rs63751467
|
0.00006
|
NM_000249.4(MLH1):c.1360G>C (p.Gly454Arg)
|
rs63750527
|
0.00006
|
NM_000249.4(MLH1):c.1733A>G (p.Glu578Gly)
|
rs63751612
|
0.00006
|
NM_000249.4(MLH1):c.1989+37T>C
|
rs374195343
|
0.00006
|
NM_000249.4(MLH1):c.2174G>A (p.Arg725His)
|
rs566928243
|
0.00006
|
NM_000249.4(MLH1):c.453G>A (p.Thr151=)
|
rs369521379
|
0.00006
|
NM_000249.4(MLH1):c.955G>A (p.Glu319Lys)
|
rs63750796
|
0.00006
|
NM_000251.3(MSH2):c.1321A>C (p.Thr441Pro)
|
rs587779086
|
0.00006
|
NM_000251.3(MSH2):c.2271C>T (p.Tyr757=)
|
rs56076152
|
0.00006
|
NM_000251.3(MSH2):c.2503A>C (p.Asn835His)
|
rs41295296
|
0.00006
|
NM_000251.3(MSH2):c.499G>C (p.Asp167His)
|
rs63750255
|
0.00006
|
NM_000251.3(MSH2):c.944G>T (p.Gly315Val)
|
rs202026056
|
0.00006
|
NM_000314.8(PTEN):c.720C>T (p.Tyr240=)
|
rs190070312
|
0.00006
|
NM_000455.5(STK11):c.734+17C>G
|
rs751929304
|
0.00006
|
NM_000455.5(STK11):c.842C>T (p.Pro281Leu)
|
rs121913322
|
0.00006
|
NM_000455.5(STK11):c.992G>A (p.Arg331Gln)
|
rs371264852
|
0.00006
|
NM_000465.4(BARD1):c.716T>A (p.Leu239Gln)
|
rs200359745
|
0.00006
|
NM_000465.4(BARD1):c.722C>G (p.Ser241Cys)
|
rs3738885
|
0.00006
|
NM_000517.4(HBA2):c.427T>C (p.Ter143Gln)
|
rs41464951
|
0.00006
|
NM_000518.5(HBB):c.79G>A (p.Glu27Lys)
|
rs33950507
|
0.00006
|
NM_000535.7(PMS2):c.1145-10G>A
|
rs533551639
|
0.00006
|
NM_000535.7(PMS2):c.1379G>A (p.Gly460Asp)
|
rs150201462
|
0.00006
|
NM_000535.7(PMS2):c.1937G>T (p.Arg646Met)
|
rs372341850
|
0.00006
|
NM_000535.7(PMS2):c.477G>A (p.Val159=)
|
rs147701251
|
0.00006
|
NM_000535.7(PMS2):c.632G>A (p.Arg211Gln)
|
rs587781934
|
0.00006
|
NM_000535.7(PMS2):c.944G>A (p.Arg315Gln)
|
rs116314131
|
0.00006
|
NM_000546.6(TP53):c.1015G>A (p.Glu339Lys)
|
rs17882252
|
0.00006
|
NM_000546.6(TP53):c.248C>T (p.Ala83Val)
|
rs201717599
|
0.00006
|
NM_000551.4(VHL):c.-47C>T
|
rs745439844
|
0.00006
|
NM_000551.4(VHL):c.340+837A>G
|
rs190906863
|
0.00006
|
NM_001023.4(RPS20):c.87A>G (p.Val29=)
|
rs138869126
|
0.00006
|
NM_001040108.2(MLH3):c.2224C>T (p.Arg742Cys)
|
rs774817891
|
0.00006
|
NM_001040108.2(MLH3):c.3312C>T (p.Ser1104=)
|
rs149369905
|
0.00006
|
NM_001040108.2(MLH3):c.3455G>A (p.Arg1152His)
|
rs374041909
|
0.00006
|
NM_001040108.2(MLH3):c.3466G>A (p.Val1156Ile)
|
rs184741686
|
0.00006
|
NM_001048174.2(MUTYH):c.305-13C>G
|
rs201207780
|
0.00006
|
NM_001048174.2(MUTYH):c.461G>T (p.Arg154Leu)
|
rs143353451
|
0.00006
|
NM_001048174.2(MUTYH):c.488G>A (p.Arg163Gln)
|
rs369677603
|
0.00006
|
NM_001082486.2(ACD):c.414-45dup
|
rs780272705
|
0.00006
|
NM_001099274.3(TINF2):c.62A>G (p.Gln21Arg)
|
rs367835995
|
0.00006
|
NM_001127511.3(APC):c.125G>A (p.Gly42Asp)
|
rs1057517570
|
0.00006
|
NM_001354604.2(MITF):c.345A>G (p.Glu115=)
|
rs370482858
|
0.00006
|
NM_002067.5(GNA11):c.879C>T (p.Pro293=)
|
rs372711795
|
0.00006
|
NM_002354.3(EPCAM):c.*261G>C
|
rs189199539
|
0.00006
|
NM_002439.5(MSH3):c.1258A>G (p.Ser420Gly)
|
rs55660516
|
0.00006
|
NM_002528.7(NTHL1):c.29C>G (p.Thr10Ser)
|
rs370539291
|
0.00006
|
NM_002528.7(NTHL1):c.576C>T (p.Tyr192=)
|
rs541989951
|
0.00006
|
NM_002691.4(POLD1):c.1562G>A (p.Arg521Gln)
|
rs143076166
|
0.00006
|
NM_002691.4(POLD1):c.1696G>A (p.Glu566Lys)
|
rs372429157
|
0.00006
|
NM_002691.4(POLD1):c.17G>A (p.Arg6Gln)
|
rs778275831
|
0.00006
|
NM_002691.4(POLD1):c.1893-6A>C
|
rs963949260
|
0.00006
|
NM_002691.4(POLD1):c.2700C>T (p.His900=)
|
rs769965495
|
0.00006
|
NM_002691.4(POLD1):c.301A>T (p.Ile101Phe)
|
rs140858857
|
0.00006
|
NM_002691.4(POLD1):c.3218+5G>A
|
rs569395274
|
0.00006
|
NM_002691.4(POLD1):c.651G>A (p.Pro217=)
|
rs199622672
|
0.00006
|
NM_002878.4(RAD51D):c.145-4G>A
|
rs201361465
|
0.00006
|
NM_002894.3(RBBP8):c.2455-4T>G
|
rs374660795
|
0.00006
|
NM_002907.4(RECQL):c.1241G>A (p.Cys414Tyr)
|
rs149937760
|
0.00006
|
NM_003000.3(SDHB):c.112C>T (p.Arg38Cys)
|
rs202119350
|
0.00006
|
NM_003000.3(SDHB):c.317A>G (p.Asn106Ser)
|
rs934514080
|
0.00006
|
NM_003000.3(SDHB):c.642+47C>T
|
rs201882049
|
0.00006
|
NM_003001.5(SDHC):c.179+10G>A
|
rs532455044
|
0.00006
|
NM_004260.4(RECQL4):c.1852C>T (p.Arg618Trp)
|
rs766726409
|
0.00006
|
NM_004329.3(BMPR1A):c.1520A>G (p.Asn507Ser)
|
rs750840234
|
0.00006
|
NM_004360.5(CDH1):c.1422C>T (p.Thr474=)
|
rs375843744
|
0.00006
|
NM_004360.5(CDH1):c.393C>T (p.Ser131=)
|
rs145430811
|
0.00006
|
NM_004655.4(AXIN2):c.1201-7C>T
|
rs760667639
|
0.00006
|
NM_004655.4(AXIN2):c.1267C>T (p.Leu423Phe)
|
rs376630432
|
0.00006
|
NM_004655.4(AXIN2):c.2237+3G>A
|
rs376584101
|
0.00006
|
NM_004655.4(AXIN2):c.242C>T (p.Ser81Phe)
|
rs146238336
|
0.00006
|
NM_004655.4(AXIN2):c.623C>T (p.Ala208Val)
|
rs201531372
|
0.00006
|
NM_004656.4(BAP1):c.1116+50G>A
|
rs756419402
|
0.00006
|
NM_004656.4(BAP1):c.37+31G>C
|
rs200628603
|
0.00006
|
NM_004944.4(DNASE1L3):c.1A>T (p.Met1Leu)
|
rs142482733
|
0.00006
|
NM_006231.4(POLE):c.1288G>A (p.Ala430Thr)
|
rs140566004
|
0.00006
|
NM_006231.4(POLE):c.1795-48G>A
|
rs202069042
|
0.00006
|
NM_006231.4(POLE):c.2026+50G>A
|
rs374062368
|
0.00006
|
NM_006231.4(POLE):c.2468+12C>T
|
rs776938447
|
0.00006
|
NM_006231.4(POLE):c.3615G>A (p.Pro1205=)
|
rs560825851
|
0.00006
|
NM_006231.4(POLE):c.4444+18C>T
|
rs780605858
|
0.00006
|
NM_006231.4(POLE):c.6039C>T (p.Asp2013=)
|
rs371563366
|
0.00006
|
NM_006231.4(POLE):c.6262C>T (p.Pro2088Ser)
|
rs749342382
|
0.00006
|
NM_006231.4(POLE):c.6716C>T (p.Ala2239Val)
|
rs190813054
|
0.00006
|
NM_007194.4(CHEK2):c.1023C>T (p.Asn341=)
|
rs377668478
|
0.00006
|
NM_007194.4(CHEK2):c.1260-10C>G
|
rs730881706
|
0.00006
|
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu)
|
rs587780180
|
0.00006
|
NM_007194.4(CHEK2):c.539G>A (p.Arg180His)
|
rs137853009
|
0.00006
|
NM_007194.4(CHEK2):c.541C>T (p.Arg181Cys)
|
rs137853010
|
0.00006
|
NM_007194.4(CHEK2):c.542G>A (p.Arg181His)
|
rs121908701
|
0.00006
|
NM_007294.4(BRCA1):c.1534C>T (p.Leu512Phe)
|
rs41286294
|
0.00006
|
NM_007294.4(BRCA1):c.1617G>A (p.Thr539=)
|
rs372002119
|
0.00006
|
NM_007294.4(BRCA1):c.2412G>C (p.Gln804His)
|
rs55746541
|
0.00006
|
NM_007294.4(BRCA1):c.2428A>T (p.Asn810Tyr)
|
rs28897682
|
0.00006
|
NM_007294.4(BRCA1):c.301+7G>A
|
rs80358113
|
0.00006
|
NM_007294.4(BRCA1):c.3608G>A (p.Arg1203Gln)
|
rs55930959
|
0.00006
|
NM_007294.4(BRCA1):c.3640G>A (p.Glu1214Lys)
|
rs80356923
|
0.00006
|
NM_007294.4(BRCA1):c.3739G>A (p.Val1247Ile)
|
rs80357191
|
0.00006
|
NM_007294.4(BRCA1):c.4185+29C>T
|
rs273900726
|
0.00006
|
NM_007294.4(BRCA1):c.4636G>A (p.Asp1546Asn)
|
rs28897691
|
0.00006
|
NM_007294.4(BRCA1):c.5278-14C>G
|
rs80358105
|
0.00006
|
NM_015450.3(POT1):c.1416T>G (p.Ser472Arg)
|
rs146643991
|
0.00006
|
NM_015450.3(POT1):c.939C>T (p.Asp313=)
|
rs746756338
|
0.00006
|
NM_017763.6(RNF43):c.1682G>A (p.Arg561Gln)
|
rs553934414
|
0.00006
|
NM_017763.6(RNF43):c.1969C>T (p.Arg657Trp)
|
rs766439784
|
0.00006
|
NM_024675.4(PALB2):c.1001A>G (p.Tyr334Cys)
|
rs200620434
|
0.00006
|
NM_024675.4(PALB2):c.1935G>A (p.Glu645=)
|
rs141707455
|
0.00006
|
NM_024675.4(PALB2):c.2866G>A (p.Glu956Lys)
|
rs1219715328
|
0.00006
|
NM_024675.4(PALB2):c.3297G>A (p.Thr1099=)
|
rs45565738
|
0.00006
|
NM_024675.4(PALB2):c.3428T>A (p.Leu1143His)
|
rs62625284
|
0.00006
|
NM_024675.4(PALB2):c.765T>C (p.Asp255=)
|
rs45465299
|
0.00006
|
NM_024675.4(PALB2):c.768C>T (p.Ser256=)
|
rs45487491
|
0.00006
|
NM_032043.3(BRIP1):c.2087C>T (p.Pro696Leu)
|
rs147755155
|
0.00006
|
NM_032043.3(BRIP1):c.2233G>A (p.Ala745Thr)
|
rs587780235
|
0.00006
|
NM_032043.3(BRIP1):c.3103C>T (p.Arg1035Cys)
|
rs45437094
|
0.00006
|
NM_032043.3(BRIP1):c.550G>T (p.Asp184Tyr)
|
rs201047375
|
0.00006
|
NM_058216.3(RAD51C):c.492T>G (p.Phe164Leu)
|
rs573992101
|
0.00006
|
NM_058216.3(RAD51C):c.870T>A (p.Ile290=)
|
rs376402418
|
0.00006
|
NM_144997.7(FLCN):c.1283C>T (p.Pro428Leu)
|
rs199889477
|
0.00006
|
NM_177438.3(DICER1):c.2720T>C (p.Ile907Thr)
|
rs200408568
|
0.00006
|
NM_177438.3(DICER1):c.2987+33A>C
|
rs371443605
|
0.00006
|
NM_000038.6(APC):c.1409-26T>G
|
rs9282598
|
0.00005
|
NM_000038.6(APC):c.2438A>G (p.Asn813Ser)
|
rs201522866
|
0.00005
|
NM_000038.6(APC):c.4688T>C (p.Leu1563Pro)
|
rs201675099
|
0.00005
|
NM_000051.4(ATM):c.2220A>G (p.Ala740=)
|
rs56353517
|
0.00005
|
NM_000051.4(ATM):c.2376+20G>C
|
rs140364468
|
0.00005
|
NM_000051.4(ATM):c.3016A>G (p.Met1006Val)
|
rs139893395
|
0.00005
|
NM_000051.4(ATM):c.4724G>A (p.Arg1575His)
|
rs550552791
|
0.00005
|
NM_000051.4(ATM):c.7983T>C (p.Asp2661=)
|
rs143972422
|
0.00005
|
NM_000059.4(BRCA2):c.2550A>G (p.Gln850=)
|
rs80359785
|
0.00005
|
NM_000059.4(BRCA2):c.426-37T>A
|
rs81002859
|
0.00005
|
NM_000059.4(BRCA2):c.5552T>G (p.Ile1851Ser)
|
rs80358776
|
0.00005
|
NM_000059.4(BRCA2):c.5985C>T (p.Asn1995=)
|
rs374620036
|
0.00005
|
NM_000059.4(BRCA2):c.750G>A (p.Val250=)
|
rs143214959
|
0.00005
|
NM_000059.4(BRCA2):c.8090G>A (p.Ser2697Asn)
|
rs80359051
|
0.00005
|
NM_000059.4(BRCA2):c.8092G>A (p.Ala2698Thr)
|
rs80359052
|
0.00005
|
NM_000059.4(BRCA2):c.8525G>A (p.Arg2842His)
|
rs80359105
|
0.00005
|
NM_000059.4(BRCA2):c.9275A>G (p.Tyr3092Cys)
|
rs80359195
|
0.00005
|
NM_000064.4(C3):c.193A>C (p.Lys65Gln)
|
rs539992721
|
0.00005
|
NM_000143.4(FH):c.399T>C (p.Asn133=)
|
rs376056309
|
0.00005
|
NM_000143.4(FH):c.738+19T>C
|
rs200220212
|
0.00005
|
NM_000175.5(GPI):c.671C>T (p.Thr224Met)
|
rs61754634
|
0.00005
|
NM_000179.3(MSH6):c.147C>T (p.Ala49=)
|
rs768803986
|
0.00005
|
NM_000179.3(MSH6):c.1844G>C (p.Cys615Ser)
|
rs730881793
|
0.00005
|
NM_000179.3(MSH6):c.2239C>T (p.Leu747=)
|
rs63751305
|
0.00005
|
NM_000179.3(MSH6):c.3399T>C (p.Thr1133=)
|
rs61748084
|
0.00005
|
NM_000179.3(MSH6):c.3852G>A (p.Thr1284=)
|
rs2229018
|
0.00005
|
NM_000245.4(MET):c.100G>A (p.Glu34Lys)
|
rs764246939
|
0.00005
|
NM_000245.4(MET):c.1063G>A (p.Glu355Lys)
|
rs561295443
|
0.00005
|
NM_000245.4(MET):c.4007G>A (p.Arg1336Gln)
|
rs369312680
|
0.00005
|
NM_000245.4(MET):c.632T>G (p.Leu211Trp)
|
rs45483396
|
0.00005
|
NM_000249.4(MLH1):c.1020C>G (p.Ser340=)
|
rs374770981
|
0.00005
|
NM_000249.4(MLH1):c.1937A>G (p.Tyr646Cys)
|
rs35045067
|
0.00005
|
NM_000249.4(MLH1):c.438A>G (p.Gln146=)
|
rs377279035
|
0.00005
|
NM_000251.3(MSH2):c.1774A>G (p.Met592Val)
|
rs371614039
|
0.00005
|
NM_000251.3(MSH2):c.843A>T (p.Ser281=)
|
rs150197753
|
0.00005
|
NM_000264.5(PTCH1):c.2704-11C>T
|
rs779097397
|
0.00005
|
NM_000314.8(PTEN):c.802-2A>T
|
rs587782455
|
0.00005
|
NM_000455.5(STK11):c.*16+7C>T
|
rs992400907
|
0.00005
|
NM_000455.5(STK11):c.465-18G>T
|
rs587781177
|
0.00005
|
NM_000455.5(STK11):c.465-5C>T
|
rs567202367
|
0.00005
|
NM_000455.5(STK11):c.678C>T (p.Asn226=)
|
rs748832988
|
0.00005
|
NM_000455.5(STK11):c.920+6C>T
|
rs730881964
|
0.00005
|
NM_000465.4(BARD1):c.1593C>T (p.Val531=)
|
rs564894014
|
0.00005
|
NM_000465.4(BARD1):c.709C>G (p.Gln237Glu)
|
rs587780035
|
0.00005
|
NM_000465.4(BARD1):c.738A>G (p.Pro246=)
|
rs587780859
|
0.00005
|
NM_000465.4(BARD1):c.841C>T (p.Pro281Ser)
|
rs200059956
|
0.00005
|
NM_000504.4(F10):c.1097G>A (p.Arg366His)
|
rs143715673
|
0.00005
|
NM_000518.5(HBB):c.92+1G>A
|
rs33971440
|
0.00005
|
NM_000535.7(PMS2):c.682G>A (p.Gly228Ser)
|
rs376258383
|
0.00005
|
NM_000546.6(TP53):c.75-40G>A
|
rs372756865
|
0.00005
|
NM_000546.6(TP53):c.75-41C>T
|
rs569425726
|
0.00005
|
NM_000546.6(TP53):c.782+12C>T
|
rs17881780
|
0.00005
|
NM_000551.4(VHL):c.340+621T>C
|
rs562162481
|
0.00005
|
NM_001040108.2(MLH3):c.3539G>A (p.Arg1180His)
|
rs377022215
|
0.00005
|
NM_001040108.2(MLH3):c.3828-15A>C
|
rs200169541
|
0.00005
|
NM_001048174.2(MUTYH):c.229G>A (p.Asp77Asn)
|
rs587780746
|
0.00005
|
NM_001082486.2(ACD):c.1226G>A (p.Arg409His)
|
rs374742891
|
0.00005
|
NM_001082486.2(ACD):c.1268C>T (p.Thr423Met)
|
rs372747629
|
0.00005
|
NM_001082486.2(ACD):c.446A>G (p.Tyr149Cys)
|
rs200909340
|
0.00005
|
NM_001082486.2(ACD):c.617A>C (p.His206Pro)
|
rs755371076
|
0.00005
|
NM_001082486.2(ACD):c.793C>G (p.Leu265Val)
|
rs200934242
|
0.00005
|
NM_002067.5(GNA11):c.372C>T (p.Phe124=)
|
rs559730941
|
0.00005
|
NM_002439.5(MSH3):c.1340+31C>T
|
rs573277887
|
0.00005
|
NM_002691.4(POLD1):c.1322C>T (p.Thr441Met)
|
rs376711125
|
0.00005
|
NM_002691.4(POLD1):c.3103G>C (p.Glu1035Gln)
|
rs879254134
|
0.00005
|
NM_004360.5(CDH1):c.699C>T (p.His233=)
|
rs115494727
|
0.00005
|
NM_004655.4(AXIN2):c.-35A>C
|
rs979482699
|
0.00005
|
NM_004655.4(AXIN2):c.1450G>A (p.Gly484Ser)
|
rs371446806
|
0.00005
|
NM_004655.4(AXIN2):c.1481C>T (p.Pro494Leu)
|
rs730881396
|
0.00005
|
NM_004655.4(AXIN2):c.2140C>T (p.Arg714Trp)
|
rs148765149
|
0.00005
|
NM_004655.4(AXIN2):c.2249C>T (p.Pro750Leu)
|
rs772888193
|
0.00005
|
NM_004655.4(AXIN2):c.957-37C>T
|
rs770028299
|
0.00005
|
NM_006231.4(POLE):c.4952+11T>A
|
rs779889181
|
0.00005
|
NM_006231.4(POLE):c.5253C>T (p.Ala1751=)
|
rs765888059
|
0.00005
|
NM_006231.4(POLE):c.5742T>C (p.Leu1914=)
|
rs541999794
|
0.00005
|
NM_006231.4(POLE):c.6668A>G (p.Lys2223Arg)
|
rs367970442
|
0.00005
|
NM_007194.4(CHEK2):c.1494T>C (p.Leu498=)
|
rs531931623
|
0.00005
|
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp)
|
rs137853007
|
0.00005
|
NM_007294.4(BRCA1):c.1974G>C (p.Met658Ile)
|
rs55678461
|
0.00005
|
NM_007294.4(BRCA1):c.5117G>C (p.Gly1706Ala)
|
rs80356860
|
0.00005
|
NM_007294.4(BRCA1):c.670+16G>A
|
rs199916228
|
0.00005
|
NM_015450.3(POT1):c.526G>A (p.Gly176Arg)
|
rs774576173
|
0.00005
|
NM_017763.6(RNF43):c.1556G>A (p.Arg519Gln)
|
rs200166143
|
0.00005
|
NM_017763.6(RNF43):c.688-25A>G
|
rs369378022
|
0.00005
|
NM_022051.3(EGLN1):c.575A>G (p.Lys192Arg)
|
rs75538505
|
0.00005
|
NM_024675.4(PALB2):c.2442G>A (p.Glu814=)
|
rs140776736
|
0.00005
|
NM_144997.7(FLCN):c.1300+14C>T
|
rs200823760
|
0.00005
|
NM_144997.7(FLCN):c.1692C>T (p.His564=)
|
rs201810397
|
0.00005
|
NM_144997.7(FLCN):c.346C>A (p.Gln116Lys)
|
rs398124536
|
0.00005
|
NM_144997.7(FLCN):c.708C>T (p.Asn236=)
|
rs750394475
|
0.00005
|
NM_177438.3(DICER1):c.1691C>T (p.Ala564Val)
|
rs201298288
|
0.00005
|
NM_177438.3(DICER1):c.4992G>A (p.Ser1664=)
|
rs781268313
|
0.00005
|
NM_177438.3(DICER1):c.734+6C>T
|
rs200212137
|
0.00005
|
NM_000038.6(APC):c.1762G>A (p.Val588Ile)
|
rs372416031
|
0.00004
|
NM_000038.6(APC):c.3245C>G (p.Thr1082Ser)
|
rs730881244
|
0.00004
|
NM_000038.6(APC):c.3436C>T (p.Arg1146Cys)
|
rs202168805
|
0.00004
|
NM_000038.6(APC):c.4073C>T (p.Ala1358Val)
|
rs730881249
|
0.00004
|
NM_000038.6(APC):c.449A>G (p.Lys150Arg)
|
rs371085910
|
0.00004
|
NM_000038.6(APC):c.5528C>T (p.Pro1843Leu)
|
rs368080169
|
0.00004
|
NM_000038.6(APC):c.5839A>G (p.Thr1947Ala)
|
rs746346292
|
0.00004
|
NM_000038.6(APC):c.5894A>C (p.His1965Pro)
|
rs773776516
|
0.00004
|
NM_000038.6(APC):c.6019T>C (p.Tyr2007His)
|
rs745811356
|
0.00004
|
NM_000038.6(APC):c.6135C>T (p.Ser2045=)
|
rs187297940
|
0.00004
|
NM_000038.6(APC):c.6682A>G (p.Arg2228Gly)
|
rs199648202
|
0.00004
|
NM_000038.6(APC):c.6977G>A (p.Arg2326Gln)
|
rs531178000
|
0.00004
|
NM_000038.6(APC):c.7402T>C (p.Ser2468Pro)
|
rs375586273
|
0.00004
|
NM_000038.6(APC):c.776G>A (p.Arg259Gln)
|
rs767457050
|
0.00004
|
NM_000038.6(APC):c.8061A>G (p.Ser2687=)
|
rs746180965
|
0.00004
|
NM_000038.6(APC):c.8261G>A (p.Ser2754Asn)
|
rs369721828
|
0.00004
|
NM_000038.6(APC):c.883A>G (p.Ser295Gly)
|
rs587780611
|
0.00004
|
NM_000051.4(ATM):c.-18G>A
|
rs374303671
|
0.00004
|
NM_000051.4(ATM):c.1402_1403del (p.Lys468fs)
|
rs587781347
|
0.00004
|
NM_000051.4(ATM):c.1888G>A (p.Val630Met)
|
rs148191382
|
0.00004
|
NM_000051.4(ATM):c.2040C>T (p.Phe680=)
|
rs587780855
|
0.00004
|
NM_000051.4(ATM):c.3468G>A (p.Thr1156=)
|
rs148358896
|
0.00004
|
NM_000051.4(ATM):c.3577-6G>A
|
rs56006345
|
0.00004
|
NM_000051.4(ATM):c.4148C>T (p.Ser1383Leu)
|
rs141087784
|
0.00004
|
NM_000051.4(ATM):c.5868C>T (p.Leu1956=)
|
rs540054724
|
0.00004
|
NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter)
|
rs587779852
|
0.00004
|
NM_000051.4(ATM):c.6101G>A (p.Arg2034Gln)
|
rs3218670
|
0.00004
|
NM_000051.4(ATM):c.6114C>T (p.His2038=)
|
rs774993357
|
0.00004
|
NM_000051.4(ATM):c.8428A>C (p.Lys2810Gln)
|
rs730881325
|
0.00004
|
NM_000051.4(ATM):c.8558C>T (p.Thr2853Met)
|
rs141534716
|
0.00004
|
NM_000059.4(BRCA2):c.1181A>C (p.Glu394Ala)
|
rs56016241
|
0.00004
|
NM_000059.4(BRCA2):c.280C>T (p.Pro94Ser)
|
rs80358531
|
0.00004
|
NM_000059.4(BRCA2):c.2987T>G (p.Leu996Arg)
|
rs80358545
|
0.00004
|
NM_000059.4(BRCA2):c.425+36A>G
|
rs201865785
|
0.00004
|
NM_000059.4(BRCA2):c.4570T>G (p.Phe1524Val)
|
rs56386506
|
0.00004
|
NM_000059.4(BRCA2):c.5303_5304del (p.Leu1768fs)
|
rs80359505
|
0.00004
|
NM_000059.4(BRCA2):c.5793A>G (p.Gln1931=)
|
rs371682489
|
0.00004
|
NM_000059.4(BRCA2):c.6290C>T (p.Thr2097Met)
|
rs80358866
|
0.00004
|
NM_000059.4(BRCA2):c.67+40G>A
|
rs371493518
|
0.00004
|
NM_000059.4(BRCA2):c.7102T>G (p.Leu2368Val)
|
rs397507382
|
0.00004
|
NM_000059.4(BRCA2):c.7806-48A>G
|
rs751904687
|
0.00004
|
NM_000059.4(BRCA2):c.8723T>G (p.Val2908Gly)
|
rs28897753
|
0.00004
|
NM_000059.4(BRCA2):c.8918G>A (p.Arg2973His)
|
rs80359143
|
0.00004
|
NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter)
|
rs80359212
|
0.00004
|
NM_000059.4(BRCA2):c.9586A>G (p.Lys3196Glu)
|
rs80359228
|
0.00004
|
NM_000075.4(CDK4):c.460G>C (p.Val154Leu)
|
rs563692823
|
0.00004
|
NM_000075.4(CDK4):c.905C>T (p.Pro302Leu)
|
rs749477862
|
0.00004
|
NM_000077.5(CDKN2A):c.197A>G (p.His66Arg)
|
rs756750256
|
0.00004
|
NM_000077.5(CDKN2A):c.405G>A (p.Gly135=)
|
rs751586391
|
0.00004
|
NM_000128.4(F11):c.400C>T (p.Gln134Ter)
|
rs756908183
|
0.00004
|
NM_000143.4(FH):c.-3A>G
|
rs202145941
|
0.00004
|
NM_000143.4(FH):c.1482A>G (p.Ala494=)
|
rs201559643
|
0.00004
|
NM_000143.4(FH):c.302G>A (p.Arg101Gln)
|
rs75086406
|
0.00004
|
NM_000143.4(FH):c.556-4A>G
|
rs370229813
|
0.00004
|
NM_000143.4(FH):c.580G>A (p.Ala194Thr)
|
rs587782215
|
0.00004
|
NM_000179.3(MSH6):c.-24G>A
|
rs876661137
|
0.00004
|
NM_000179.3(MSH6):c.107C>T (p.Ala36Val)
|
rs61756469
|
0.00004
|
NM_000179.3(MSH6):c.1402C>T (p.Arg468Cys)
|
rs369456858
|
0.00004
|
NM_000179.3(MSH6):c.2271C>T (p.Thr757=)
|
rs142172006
|
0.00004
|
NM_000179.3(MSH6):c.2418C>T (p.Ser806=)
|
rs770992427
|
0.00004
|
NM_000179.3(MSH6):c.2904C>G (p.Val968=)
|
rs150683226
|
0.00004
|
NM_000179.3(MSH6):c.3557-3A>T
|
rs41295274
|
0.00004
|
NM_000179.3(MSH6):c.3729A>G (p.Thr1243=)
|
rs773807182
|
0.00004
|
NM_000245.4(MET):c.1278C>T (p.Arg426=)
|
rs748508881
|
0.00004
|
NM_000245.4(MET):c.1374A>G (p.Ser458=)
|
rs755165691
|
0.00004
|
NM_000245.4(MET):c.1984A>G (p.Ile662Val)
|
rs765244598
|
0.00004
|
NM_000245.4(MET):c.2677T>A (p.Leu893Ile)
|
rs376104371
|
0.00004
|
NM_000245.4(MET):c.2825C>T (p.Ser942Leu)
|
rs375576430
|
0.00004
|
NM_000245.4(MET):c.2909G>A (p.Arg970His)
|
rs45607832
|
0.00004
|
NM_000245.4(MET):c.3459G>A (p.Pro1153=)
|
rs201245213
|
0.00004
|
NM_000245.4(MET):c.4034T>C (p.Ile1345Thr)
|
rs768188910
|
0.00004
|
NM_000249.4(MLH1):c.1269G>A (p.Arg423=)
|
rs373076967
|
0.00004
|
NM_000249.4(MLH1):c.1565G>A (p.Arg522Gln)
|
rs63751630
|
0.00004
|
NM_000249.4(MLH1):c.1633A>G (p.Thr545Ala)
|
rs267607840
|
0.00004
|
NM_000249.4(MLH1):c.2252A>G (p.Lys751Arg)
|
rs140195825
|
0.00004
|
NM_000249.4(MLH1):c.381-43C>G
|
rs368847278
|
0.00004
|
NM_000249.4(MLH1):c.794G>A (p.Arg265His)
|
rs63751448
|
0.00004
|
NM_000251.3(MSH2):c.1830C>T (p.His610=)
|
rs766326295
|
0.00004
|
NM_000251.3(MSH2):c.2211-6C>A
|
rs267608003
|
0.00004
|
NM_000264.5(PTCH1):c.1664A>G (p.Asn555Ser)
|
rs181192122
|
0.00004
|
NM_000264.5(PTCH1):c.897G>A (p.Pro299=)
|
rs56141639
|
0.00004
|
NM_000264.5(PTCH1):c.91G>A (p.Gly31Arg)
|
rs768512190
|
0.00004
|
NM_000400.4(ERCC2):c.1459C>T (p.Arg487Trp)
|
rs562132292
|
0.00004
|
NM_000455.5(STK11):c.316C>T (p.Arg106Trp)
|
rs587782115
|
0.00004
|
NM_000455.5(STK11):c.374+11C>T
|
rs368923696
|
0.00004
|
NM_000455.5(STK11):c.42G>A (p.Glu14=)
|
rs758769888
|
0.00004
|
NM_000455.5(STK11):c.651G>A (p.Pro217=)
|
rs368348370
|
0.00004
|
NM_000455.5(STK11):c.723T>C (p.Ala241=)
|
rs533550278
|
0.00004
|
NM_000455.5(STK11):c.862+23C>T
|
rs200302435
|
0.00004
|
NM_000455.5(STK11):c.920+29G>A
|
rs191273506
|
0.00004
|
NM_000465.4(BARD1):c.160A>G (p.Thr54Ala)
|
rs200254470
|
0.00004
|
NM_000465.4(BARD1):c.1678-18C>G
|
rs376045331
|
0.00004
|
NM_000465.4(BARD1):c.1921C>T (p.Arg641Ter)
|
rs587781948
|
0.00004
|
NM_000465.4(BARD1):c.253G>T (p.Val85Leu)
|
rs370359540
|
0.00004
|
NM_000465.4(BARD1):c.76A>G (p.Met26Val)
|
rs587781570
|
0.00004
|
NM_000465.4(BARD1):c.783A>G (p.Leu261=)
|
rs201862973
|
0.00004
|
NM_000535.7(PMS2):c.*17G>C
|
rs556089649
|
0.00004
|
NM_000535.7(PMS2):c.1211C>G (p.Pro404Arg)
|
rs536111818
|
0.00004
|
NM_000535.7(PMS2):c.166C>G (p.Leu56Val)
|
rs371011390
|
0.00004
|
NM_000535.7(PMS2):c.178G>A (p.Asp60Asn)
|
rs587782176
|
0.00004
|
NM_000535.7(PMS2):c.1936A>C (p.Arg646=)
|
rs369582237
|
0.00004
|
NM_000535.7(PMS2):c.1A>G (p.Met1Val)
|
rs587779333
|
0.00004
|
NM_000535.7(PMS2):c.2347G>A (p.Val783Ile)
|
rs553286217
|
0.00004
|
NM_000535.7(PMS2):c.2356C>A (p.Leu786Met)
|
rs576055272
|
0.00004
|
NM_000535.7(PMS2):c.24-43A>G
|
rs367977895
|
0.00004
|
NM_000535.7(PMS2):c.2446-26G>A
|
rs1454211746
|
0.00004
|
NM_000535.7(PMS2):c.475G>A (p.Val159Met)
|
rs142416537
|
0.00004
|
NM_000535.7(PMS2):c.705+12C>T
|
rs368486366
|
0.00004
|
NM_000535.7(PMS2):c.831G>A (p.Thr277=)
|
rs116481522
|
0.00004
|
NM_000546.6(TP53):c.246G>A (p.Pro82=)
|
rs372397095
|
0.00004
|
NM_000546.6(TP53):c.255T>C (p.Pro85=)
|
rs775515332
|
0.00004
|
NM_000546.6(TP53):c.554G>A (p.Ser185Asn)
|
rs150607408
|
0.00004
|
NM_000546.6(TP53):c.642T>G (p.His214Gln)
|
rs587781386
|
0.00004
|
NM_000546.6(TP53):c.672+35G>T
|
rs587778001
|
0.00004
|
NM_000546.6(TP53):c.998G>A (p.Arg333His)
|
rs573154688
|
0.00004
|
NM_000551.4(VHL):c.119C>T (p.Pro40Leu)
|
rs200343185
|
0.00004
|
NM_000551.4(VHL):c.213C>T (p.Pro71=)
|
rs201663073
|
0.00004
|
NM_000551.4(VHL):c.631A>C (p.Met211Leu)
|
rs200019083
|
0.00004
|
NM_000553.6(WRN):c.1504G>C (p.Gly502Arg)
|
rs755548890
|
0.00004
|
NM_000785.4(CYP27B1):c.1166G>A (p.Arg389His)
|
rs118204009
|
0.00004
|
NM_000791.4(DHFR):c.-379C>T
|
rs772266495
|
0.00004
|
NM_000791.4(DHFR):c.-381T>G
|
rs773388641
|
0.00004
|
NM_000791.4(DHFR):c.-384G>C
|
rs564858245
|
0.00004
|
NM_001040108.2(MLH3):c.1082A>G (p.Asp361Gly)
|
rs749840648
|
0.00004
|
NM_001040108.2(MLH3):c.1827A>G (p.Ile609Met)
|
rs374951352
|
0.00004
|
NM_001040108.2(MLH3):c.2093A>G (p.Gln698Arg)
|
rs148876417
|
0.00004
|
NM_001040108.2(MLH3):c.3643+33A>G
|
rs1287057450
|
0.00004
|
NM_001040108.2(MLH3):c.3723C>T (p.Tyr1241=)
|
rs145627040
|
0.00004
|
NM_001040108.2(MLH3):c.629G>A (p.Arg210Gln)
|
rs143631202
|
0.00004
|
NM_001048174.2(MUTYH):c.1240-20C>T
|
rs184154021
|
0.00004
|
NM_001048174.2(MUTYH):c.1309C>G (p.Pro437Ala)
|
rs375597447
|
0.00004
|
NM_001048174.2(MUTYH):c.305-6C>T
|
rs376600220
|
0.00004
|
NM_001048174.2(MUTYH):c.421-2A>C
|
rs786203161
|
0.00004
|
NM_001048174.2(MUTYH):c.87C>T (p.Asn29=)
|
rs141679570
|
0.00004
|
NM_001048174.2(MUTYH):c.914-21T>C
|
rs780013757
|
0.00004
|
NM_001048174.2(MUTYH):c.954G>A (p.Ser318=)
|
rs372673338
|
0.00004
|
NM_001082486.2(ACD):c.513T>G (p.Leu171=)
|
rs755523137
|
0.00004
|
NM_001127511.3(APC):c.-188C>T
|
rs761454123
|
0.00004
|
NM_001127511.3(APC):c.133C>T (p.Arg45Cys)
|
rs755954869
|
0.00004
|
NM_001242896.3(DEPDC5):c.1909C>T (p.Arg637Ter)
|
rs780960812
|
0.00004
|
NM_001267550.2(TTN):c.97441G>A (p.Gly32481Arg)
|
rs111616037
|
0.00004
|
NM_001354604.2(MITF):c.-29C>T
|
rs764723775
|
0.00004
|
NM_001370259.2(MEN1):c.1098A>T (p.Glu366Asp)
|
rs149383809
|
0.00004
|
NM_001572.5(IRF7):c.553C>T (p.Gln185Ter)
|
rs756347258
|
0.00004
|
NM_001701.4(BAAT):c.390G>T (p.Arg130Ser)
|
rs551090726
|
0.00004
|
NM_002067.5(GNA11):c.912G>A (p.Ala304=)
|
rs145170690
|
0.00004
|
NM_002439.5(MSH3):c.1361G>A (p.Arg454Gln)
|
rs144798521
|
0.00004
|
NM_002439.5(MSH3):c.2173G>A (p.Glu725Lys)
|
rs200612739
|
0.00004
|
NM_002439.5(MSH3):c.2235G>A (p.Val745=)
|
rs761801255
|
0.00004
|
NM_002439.5(MSH3):c.2557G>C (p.Glu853Gln)
|
rs200185323
|
0.00004
|
NM_002439.5(MSH3):c.845C>T (p.Thr282Ile)
|
rs202184623
|
0.00004
|
NM_002439.5(MSH3):c.982C>T (p.Arg328Trp)
|
rs745412081
|
0.00004
|
NM_002528.7(NTHL1):c.120G>A (p.Ala40=)
|
rs143726834
|
0.00004
|
NM_002528.7(NTHL1):c.138C>T (p.Pro46=)
|
rs752395301
|
0.00004
|
NM_002528.7(NTHL1):c.354+4G>T
|
rs771353497
|
0.00004
|
NM_002528.7(NTHL1):c.765C>T (p.Arg255=)
|
rs902599622
|
0.00004
|
NM_002528.7(NTHL1):c.9C>T (p.Ala3=)
|
rs765855021
|
0.00004
|
NM_002691.4(POLD1):c.160G>A (p.Glu54Lys)
|
rs1368414810
|
0.00004
|
NM_002691.4(POLD1):c.1794C>T (p.Ile598=)
|
rs369152704
|
0.00004
|
NM_002691.4(POLD1):c.1930G>A (p.Asp644Asn)
|
rs763465385
|
0.00004
|
NM_002691.4(POLD1):c.2007-14G>A
|
rs374710307
|
0.00004
|
NM_002691.4(POLD1):c.2016C>T (p.Ala672=)
|
rs761142119
|
0.00004
|
NM_002691.4(POLD1):c.2429C>T (p.Ala810Val)
|
rs765981178
|
0.00004
|
NM_002691.4(POLD1):c.2549G>A (p.Arg850His)
|
rs764432550
|
0.00004
|
NM_002691.4(POLD1):c.2718-5C>T
|
rs368965066
|
0.00004
|
NM_002691.4(POLD1):c.3219-28C>T
|
rs763799482
|
0.00004
|
NM_002691.4(POLD1):c.384C>T (p.Phe128=)
|
rs571335388
|
0.00004
|
NM_002691.4(POLD1):c.530G>A (p.Arg177His)
|
rs3218750
|
0.00004
|
NM_002878.4(RAD51D):c.493C>T (p.Arg165Trp)
|
rs544654228
|
0.00004
|
NM_002878.4(RAD51D):c.796C>T (p.Arg266Cys)
|
rs587781813
|
0.00004
|
NM_002878.4(RAD51D):c.797G>A (p.Arg266His)
|
rs779808083
|
0.00004
|
NM_003000.3(SDHB):c.552C>T (p.Tyr184=)
|
rs202098600
|
0.00004
|
NM_003001.5(SDHC):c.*45C>A
|
rs370435919
|
0.00004
|
NM_003001.5(SDHC):c.118C>T (p.Arg40Trp)
|
rs978019587
|
0.00004
|
NM_003001.5(SDHC):c.490A>T (p.Met164Leu)
|
rs200375156
|
0.00004
|
NM_003235.5(TG):c.6695C>T (p.Pro2232Leu)
|
rs201514086
|
0.00004
|
NM_003738.5(PTCH2):c.3210G>C (p.Leu1070Phe)
|
rs138220875
|
0.00004
|
NM_003801.4(GPAA1):c.149T>A (p.Met50Lys)
|
rs200581623
|
0.00004
|
NM_004168.4(SDHA):c.1724C>T (p.Ala575Val)
|
rs750327309
|
0.00004
|
NM_004329.3(BMPR1A):c.1167-29A>G
|
rs777122940
|
0.00004
|
NM_004329.3(BMPR1A):c.1167-31C>T
|
rs769122446
|
0.00004
|
NM_004329.3(BMPR1A):c.1474-10T>C
|
rs369633360
|
0.00004
|
NM_004329.3(BMPR1A):c.1474-9A>G
|
rs372031054
|
0.00004
|
NM_004329.3(BMPR1A):c.1498A>G (p.Met500Val)
|
rs376651641
|
0.00004
|
NM_004329.3(BMPR1A):c.383A>G (p.Asn128Ser)
|
rs375165807
|
0.00004
|
NM_004329.3(BMPR1A):c.430+11C>T
|
rs762244358
|
0.00004
|
NM_004360.5(CDH1):c.1023T>C (p.Tyr341=)
|
rs587776398
|
0.00004
|
NM_004360.5(CDH1):c.1224G>A (p.Ala408=)
|
rs200161607
|
0.00004
|
NM_004360.5(CDH1):c.1392C>T (p.Val464=)
|
rs373811706
|
0.00004
|
NM_004360.5(CDH1):c.2020A>T (p.Asn674Tyr)
|
rs201637081
|
0.00004
|
NM_004360.5(CDH1):c.2280C>T (p.Gly760=)
|
rs768547540
|
0.00004
|
NM_004360.5(CDH1):c.2387G>A (p.Arg796Gln)
|
rs587782549
|
0.00004
|
NM_004360.5(CDH1):c.2427T>A (p.Asn809Lys)
|
rs772173832
|
0.00004
|
NM_004360.5(CDH1):c.2474C>T (p.Pro825Leu)
|
rs587781312
|
0.00004
|
NM_004360.5(CDH1):c.2494G>A (p.Val832Met)
|
rs35572355
|
0.00004
|
NM_004360.5(CDH1):c.84C>T (p.Cys28=)
|
rs587780789
|
0.00004
|
NM_004655.4(AXIN2):c.1553A>G (p.Tyr518Cys)
|
rs368289818
|
0.00004
|
NM_004655.4(AXIN2):c.2083G>T (p.Ala695Ser)
|
rs140510381
|
0.00004
|
NM_004655.4(AXIN2):c.549G>A (p.Glu183=)
|
rs370765600
|
0.00004
|
NM_004656.4(BAP1):c.1461C>T (p.Thr487=)
|
rs762466375
|
0.00004
|
NM_004656.4(BAP1):c.255+22G>C
|
rs761358401
|
0.00004
|
NM_004656.4(BAP1):c.659+17T>A
|
rs753960146
|
0.00004
|
NM_004656.4(BAP1):c.878C>T (p.Pro293Leu)
|
rs777664260
|
0.00004
|
NM_005359.6(SMAD4):c.228A>G (p.Arg76=)
|
rs587780556
|
0.00004
|
NM_005359.6(SMAD4):c.249+16G>A
|
rs751563004
|
0.00004
|
NM_006231.4(POLE):c.1357C>G (p.Gln453Glu)
|
rs781360770
|
0.00004
|
NM_006231.4(POLE):c.155G>A (p.Arg52Gln)
|
rs372459649
|
0.00004
|
NM_006231.4(POLE):c.2561+20C>T
|
rs778807482
|
0.00004
|
NM_006231.4(POLE):c.2599G>A (p.Val867Ile)
|
rs374200895
|
0.00004
|
NM_006231.4(POLE):c.2763C>T (p.Tyr921=)
|
rs767254003
|
0.00004
|
NM_006231.4(POLE):c.2770C>T (p.Arg924Cys)
|
rs369751686
|
0.00004
|
NM_006231.4(POLE):c.2879A>G (p.Asn960Ser)
|
rs746311547
|
0.00004
|
NM_006231.4(POLE):c.3275+16A>G
|
rs5744858
|
0.00004
|
NM_006231.4(POLE):c.330+3G>A
|
rs369152225
|
0.00004
|
NM_006231.4(POLE):c.3595G>A (p.Glu1199Lys)
|
rs1012418859
|
0.00004
|
NM_006231.4(POLE):c.3939G>A (p.Thr1313=)
|
rs150282789
|
0.00004
|
NM_006231.4(POLE):c.4552-11C>T
|
rs202176361
|
0.00004
|
NM_006231.4(POLE):c.4556G>A (p.Arg1519His)
|
rs376530977
|
0.00004
|
NM_006231.4(POLE):c.4779G>T (p.Leu1593=)
|
rs542995085
|
0.00004
|
NM_006231.4(POLE):c.5174-6G>C
|
rs770466844
|
0.00004
|
NM_006231.4(POLE):c.5412G>A (p.Lys1804=)
|
rs144218410
|
0.00004
|
NM_006231.4(POLE):c.5515C>T (p.Arg1839Cys)
|
rs141519273
|
0.00004
|
NM_006231.4(POLE):c.555C>T (p.Asp185=)
|
rs763871536
|
0.00004
|
NM_006231.4(POLE):c.5811+12G>A
|
rs765804223
|
0.00004
|
NM_006231.4(POLE):c.6018C>T (p.Ala2006=)
|
rs111709550
|
0.00004
|
NM_006231.4(POLE):c.6135C>T (p.Pro2045=)
|
rs368662693
|
0.00004
|
NM_006231.4(POLE):c.6445C>T (p.Arg2149Cys)
|
rs771490182
|
0.00004
|
NM_006231.4(POLE):c.6539C>T (p.Ala2180Val)
|
rs552452448
|
0.00004
|
NM_006231.4(POLE):c.720+16T>C
|
rs200320553
|
0.00004
|
NM_006231.4(POLE):c.834G>A (p.Thr278=)
|
rs758368160
|
0.00004
|
NM_006516.4(SLC2A1):c.179C>T (p.Thr60Met)
|
rs142986731
|
0.00004
|
NM_007194.4(CHEK2):c.-10dup
|
rs886037743
|
0.00004
|
NM_007194.4(CHEK2):c.1336A>G (p.Asn446Asp)
|
rs121908705
|
0.00004
|
NM_007194.4(CHEK2):c.1470C>A (p.Asp490Glu)
|
rs587780178
|
0.00004
|
NM_007294.4(BRCA1):c.-19-31T>G
|
rs750463455
|
0.00004
|
NM_007294.4(BRCA1):c.1616C>T (p.Thr539Met)
|
rs80357374
|
0.00004
|
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly)
|
rs28897672
|
0.00004
|
NM_007294.4(BRCA1):c.2351C>T (p.Ser784Leu)
|
rs55914168
|
0.00004
|
NM_007294.4(BRCA1):c.3454G>A (p.Asp1152Asn)
|
rs80357175
|
0.00004
|
NM_007294.4(BRCA1):c.4036G>A (p.Glu1346Lys)
|
rs80357407
|
0.00004
|
NM_007294.4(BRCA1):c.427G>A (p.Glu143Lys)
|
rs80356991
|
0.00004
|
NM_007294.4(BRCA1):c.4357+17A>G
|
rs80358180
|
0.00004
|
NM_007294.4(BRCA1):c.446A>C (p.Glu149Ala)
|
rs397507233
|
0.00004
|
NM_007294.4(BRCA1):c.4625C>G (p.Ser1542Cys)
|
rs41293457
|
0.00004
|
NM_007294.4(BRCA1):c.4676-8C>G
|
rs80358021
|
0.00004
|
NM_007294.4(BRCA1):c.4729T>C (p.Ser1577Pro)
|
rs80356909
|
0.00004
|
NM_007294.4(BRCA1):c.5252G>A (p.Arg1751Gln)
|
rs80357442
|
0.00004
|
NM_007294.4(BRCA1):c.75C>T (p.Pro25=)
|
rs80356839
|
0.00004
|
NM_015450.3(POT1):c.1793-25G>A
|
rs575804706
|
0.00004
|
NM_015450.3(POT1):c.879A>G (p.Glu293=)
|
rs759178052
|
0.00004
|
NM_017763.6(RNF43):c.1112G>A (p.Arg371Gln)
|
rs929720505
|
0.00004
|
NM_017763.6(RNF43):c.1317G>A (p.Arg439=)
|
rs767663775
|
0.00004
|
NM_017763.6(RNF43):c.1564A>C (p.Met522Leu)
|
rs758649188
|
0.00004
|
NM_017763.6(RNF43):c.1902C>G (p.Pro634=)
|
rs200818613
|
0.00004
|
NM_018943.3(TUBA8):c.1154C>T (p.Ala385Val)
|
rs756503256
|
0.00004
|
NM_018975.4(TERF2IP):c.1175G>A (p.Arg392Gln)
|
rs369765785
|
0.00004
|
NM_020975.6(RET):c.2477A>C (p.Tyr826Ser)
|
rs34617196
|
0.00004
|
NM_024529.5(CDC73):c.1154+20A>C
|
rs567786660
|
0.00004
|
NM_024675.4(PALB2):c.1699C>T (p.His567Tyr)
|
rs370422990
|
0.00004
|
NM_024675.4(PALB2):c.1861C>A (p.Pro621Thr)
|
rs756116550
|
0.00004
|
NM_024675.4(PALB2):c.194C>T (p.Pro65Leu)
|
rs62625272
|
0.00004
|
NM_024675.4(PALB2):c.2289G>C (p.Leu763Phe)
|
rs373478248
|
0.00004
|
NM_024675.4(PALB2):c.2674G>A (p.Glu892Lys)
|
rs45476495
|
0.00004
|
NM_024675.4(PALB2):c.3351-41G>A
|
rs372107434
|
0.00004
|
NM_024675.4(PALB2):c.48+39C>A
|
rs768839390
|
0.00004
|
NM_032043.3(BRIP1):c.1626C>T (p.Ser542=)
|
rs373709958
|
0.00004
|
NM_032043.3(BRIP1):c.2593C>T (p.Arg865Trp)
|
rs578022079
|
0.00004
|
NM_032043.3(BRIP1):c.297C>T (p.Asp99=)
|
rs201617644
|
0.00004
|
NM_032638.5(GATA2):c.1391G>T (p.Ser464Ile)
|
rs770949428
|
0.00004
|
NM_058216.3(RAD51C):c.1062A>G (p.Ala354=)
|
rs201000407
|
0.00004
|
NM_058216.3(RAD51C):c.774del (p.Thr259fs)
|
rs754367349
|
0.00004
|
NM_144997.7(FLCN):c.1300+12C>T
|
rs565983064
|
0.00004
|
NM_144997.7(FLCN):c.1513G>A (p.Val505Ile)
|
rs376715412
|
0.00004
|
NM_144997.7(FLCN):c.65C>T (p.Thr22Met)
|
rs768734584
|
0.00004
|
NM_177438.3(DICER1):c.1317C>G (p.Thr439=)
|
rs528592903
|
0.00004
|
NM_177438.3(DICER1):c.2118C>T (p.Gly706=)
|
rs191755360
|
0.00004
|
NM_177438.3(DICER1):c.2658C>T (p.Asp886=)
|
rs771049445
|
0.00004
|
NM_177438.3(DICER1):c.2805-12T>C
|
rs747770541
|
0.00004
|
NM_177438.3(DICER1):c.2951A>G (p.Asn984Ser)
|
rs750932552
|
0.00004
|
NM_177438.3(DICER1):c.4206+9_4206+23del
|
rs766236360
|
0.00004
|
NM_177438.3(DICER1):c.4554T>A (p.Val1518=)
|
rs752773026
|
0.00004
|
NM_177438.3(DICER1):c.5364+19G>A
|
rs200765325
|
0.00004
|
NM_177438.3(DICER1):c.897G>A (p.Ser299=)
|
rs201842071
|
0.00004
|
NM_198253.3(TERT):c.219+37A>C
|
rs754596246
|
0.00004
|
NM_203447.4(DOCK8):c.2033G>A (p.Arg678His)
|
rs146223665
|
0.00004
|
NM_000038.6(APC):c.385G>C (p.Glu129Gln)
|
rs376628500
|
0.00003
|
NM_000038.6(APC):c.4334C>T (p.Thr1445Ile)
|
rs760686348
|
0.00003
|
NM_000038.6(APC):c.6750C>T (p.Gly2250=)
|
rs555799753
|
0.00003
|
NM_000038.6(APC):c.7174C>A (p.Pro2392Thr)
|
rs730881257
|
0.00003
|
NM_000038.6(APC):c.7264A>G (p.Thr2422Ala)
|
rs730881260
|
0.00003
|
NM_000038.6(APC):c.756C>T (p.Thr252=)
|
rs771535363
|
0.00003
|
NM_000038.6(APC):c.757G>A (p.Gly253Ser)
|
rs772806807
|
0.00003
|
NM_000051.4(ATM):c.2013A>T (p.Ile671=)
|
rs1371341017
|
0.00003
|
NM_000051.4(ATM):c.2697C>T (p.Asp899=)
|
rs786202978
|
0.00003
|
NM_000051.4(ATM):c.2735A>G (p.Gln912Arg)
|
rs730881353
|
0.00003
|
NM_000051.4(ATM):c.496+18T>A
|
rs762171014
|
0.00003
|
NM_000051.4(ATM):c.5683C>T (p.His1895Tyr)
|
rs766901049
|
0.00003
|
NM_000051.4(ATM):c.6554T>C (p.Ile2185Thr)
|
rs779611511
|
0.00003
|
NM_000051.4(ATM):c.6604T>G (p.Tyr2202Asp)
|
rs730881311
|
0.00003
|
NM_000051.4(ATM):c.6888A>T (p.Ala2296=)
|
rs200735689
|
0.00003
|
NM_000051.4(ATM):c.7191A>G (p.Gln2397=)
|
rs768906734
|
0.00003
|
NM_000051.4(ATM):c.8419-16_8419-13del
|
rs774275044
|
0.00003
|
NM_000051.4(ATM):c.8546G>A (p.Arg2849Gln)
|
rs587782202
|
0.00003
|
NM_000053.4(ATP7B):c.2668G>A (p.Val890Met)
|
rs786204718
|
0.00003
|
NM_000059.4(BRCA2):c.*15G>A
|
rs376501142
|
0.00003
|
NM_000059.4(BRCA2):c.1744A>C (p.Thr582Pro)
|
rs80358457
|
0.00003
|
NM_000059.4(BRCA2):c.1917G>A (p.Leu639=)
|
rs779226644
|
0.00003
|
NM_000059.4(BRCA2):c.316+12A>G
|
rs186419778
|
0.00003
|
NM_000059.4(BRCA2):c.3225T>C (p.Ser1075=)
|
rs779228375
|
0.00003
|
NM_000059.4(BRCA2):c.323A>G (p.Asn108Ser)
|
rs80358568
|
0.00003
|
NM_000059.4(BRCA2):c.3462C>T (p.Thr1154=)
|
rs4986856
|
0.00003
|
NM_000059.4(BRCA2):c.3910A>G (p.Thr1304Ala)
|
rs28897723
|
0.00003
|
NM_000059.4(BRCA2):c.4269T>C (p.Thr1423=)
|
rs786201377
|
0.00003
|
NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs)
|
rs11571658
|
0.00003
|
NM_000059.4(BRCA2):c.6935A>T (p.Asp2312Val)
|
rs80358916
|
0.00003
|
NM_000059.4(BRCA2):c.6938-26T>C
|
rs774079948
|
0.00003
|
NM_000059.4(BRCA2):c.7436-49G>A
|
rs370581599
|
0.00003
|
NM_000059.4(BRCA2):c.8010G>A (p.Ser2670=)
|
rs146430937
|
0.00003
|
NM_000059.4(BRCA2):c.8694G>A (p.Leu2898=)
|
rs556762256
|
0.00003
|
NM_000059.4(BRCA2):c.9256+28T>A
|
rs779846458
|
0.00003
|
NM_000077.5(CDKN2A):c.206A>G (p.Glu69Gly)
|
rs372670098
|
0.00003
|
NM_000130.5(F5):c.1034G>A (p.Arg345Gln)
|
rs201078171
|
0.00003
|
NM_000143.4(FH):c.207C>T (p.Gly69=)
|
rs370392829
|
0.00003
|
NM_000179.3(MSH6):c.-2G>T
|
rs374748889
|
0.00003
|
NM_000179.3(MSH6):c.-8C>T
|
rs565211544
|
0.00003
|
NM_000179.3(MSH6):c.2780T>C (p.Ile927Thr)
|
rs587779926
|
0.00003
|
NM_000179.3(MSH6):c.3284G>A (p.Arg1095His)
|
rs63750253
|
0.00003
|
NM_000179.3(MSH6):c.3543C>G (p.Asp1181Glu)
|
rs267608100
|
0.00003
|
NM_000179.3(MSH6):c.3772C>G (p.Gln1258Glu)
|
rs63750554
|
0.00003
|
NM_000179.3(MSH6):c.4002-14T>C
|
rs587781041
|
0.00003
|
NM_000179.3(MSH6):c.628-12C>T
|
rs752105994
|
0.00003
|
NM_000245.4(MET):c.1701+14A>G
|
rs768638354
|
0.00003
|
NM_000245.4(MET):c.1701+47T>G
|
rs754198809
|
0.00003
|
NM_000245.4(MET):c.2555T>A (p.Met852Lys)
|
rs369758288
|
0.00003
|
NM_000245.4(MET):c.3230T>C (p.Ile1077Thr)
|
rs1177400289
|
0.00003
|
NM_000245.4(MET):c.666G>A (p.Thr222=)
|
rs1444020594
|
0.00003
|
NM_000245.4(MET):c.762A>C (p.Glu254Asp)
|
rs760278126
|
0.00003
|
NM_000249.4(MLH1):c.1487C>T (p.Pro496Leu)
|
rs63750226
|
0.00003
|
NM_000249.4(MLH1):c.453+20G>T
|
rs759417195
|
0.00003
|
NM_000249.4(MLH1):c.539T>G (p.Val180Gly)
|
rs63750102
|
0.00003
|
NM_000249.4(MLH1):c.884+15A>G
|
rs372817491
|
0.00003
|
NM_000249.4(MLH1):c.991G>A (p.Glu331Lys)
|
rs550914672
|
0.00003
|
NM_000251.3(MSH2):c.1366A>G (p.Thr456Ala)
|
rs758636279
|
0.00003
|
NM_000251.3(MSH2):c.211+8C>T
|
rs267607916
|
0.00003
|
NM_000251.3(MSH2):c.2120G>A (p.Cys707Tyr)
|
rs373226409
|
0.00003
|
NM_000251.3(MSH2):c.2205C>T (p.Ile735=)
|
rs533553381
|
0.00003
|
NM_000251.3(MSH2):c.594A>G (p.Glu198=)
|
rs369685768
|
0.00003
|
NM_000251.3(MSH2):c.817G>A (p.Val273Ile)
|
rs530814648
|
0.00003
|
NM_000251.3(MSH2):c.835C>G (p.Leu279Val)
|
rs375351205
|
0.00003
|
NM_000264.5(PTCH1):c.3629C>T (p.Pro1210Leu)
|
rs781062564
|
0.00003
|
NM_000264.5(PTCH1):c.3639C>T (p.His1213=)
|
rs761797443
|
0.00003
|
NM_000264.5(PTCH1):c.3641C>T (p.Thr1214Met)
|
rs200029534
|
0.00003
|
NM_000264.5(PTCH1):c.4012C>T (p.Arg1338Cys)
|
rs374346190
|
0.00003
|
NM_000298.6(PKLR):c.401T>A (p.Val134Asp)
|
rs574051756
|
0.00003
|
NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln)
|
rs375709098
|
0.00003
|
NM_000321.3(RB1):c.2626C>T (p.Arg876Cys)
|
rs143105337
|
0.00003
|
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr)
|
rs5030869
|
0.00003
|
NM_000455.5(STK11):c.1100C>T (p.Thr367Met)
|
rs587782835
|
0.00003
|
NM_000455.5(STK11):c.1226G>A (p.Arg409Gln)
|
rs587782364
|
0.00003
|
NM_000455.5(STK11):c.552C>T (p.Leu184=)
|
rs587780719
|
0.00003
|
NM_000455.5(STK11):c.615G>A (p.Ala205=)
|
rs532889728
|
0.00003
|
NM_000455.5(STK11):c.911G>A (p.Arg304Gln)
|
rs376280361
|
0.00003
|
NM_000465.4(BARD1):c.1028C>T (p.Thr343Ile)
|
rs201032007
|
0.00003
|
NM_000465.4(BARD1):c.1622C>T (p.Ser541Leu)
|
rs777937955
|
0.00003
|
NM_000465.4(BARD1):c.1690C>T (p.Gln564Ter)
|
rs587780021
|
0.00003
|
NM_000465.4(BARD1):c.1915T>C (p.Cys639Arg)
|
rs587781376
|
0.00003
|
NM_000465.4(BARD1):c.568G>A (p.Asp190Asn)
|
rs369561166
|
0.00003
|
NM_000535.7(PMS2):c.1096G>C (p.Asp366His)
|
rs141769057
|
0.00003
|
NM_000535.7(PMS2):c.1145-16G>A
|
rs576825560
|
0.00003
|
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys)
|
rs267608161
|
0.00003
|
NM_000535.7(PMS2):c.2275+45C>T
|
rs754969553
|
0.00003
|
NM_000535.7(PMS2):c.364A>C (p.Ile122Leu)
|
rs761748894
|
0.00003
|
NM_000535.7(PMS2):c.751G>A (p.Val251Met)
|
rs142434011
|
0.00003
|
NM_000535.7(PMS2):c.883C>T (p.Arg295Trp)
|
rs182246929
|
0.00003
|
NM_000535.7(PMS2):c.924G>C (p.Glu308Asp)
|
rs114185660
|
0.00003
|
NM_000546.6(TP53):c.1120G>C (p.Gly374Arg)
|
rs587781858
|
0.00003
|
NM_000546.6(TP53):c.30C>T (p.Val10=)
|
rs568171603
|
0.00003
|
NM_000546.6(TP53):c.467G>A (p.Arg156His)
|
rs371524413
|
0.00003
|
NM_000546.6(TP53):c.509C>T (p.Thr170Met)
|
rs779000871
|
0.00003
|
NM_000546.6(TP53):c.903A>G (p.Pro301=)
|
rs72661120
|
0.00003
|
NM_000551.4(VHL):c.340+20G>A
|
rs757151154
|
0.00003
|
NM_000551.4(VHL):c.628C>T (p.Arg210Trp)
|
rs774380450
|
0.00003
|
NM_000791.4(DHFR):c.-369G>C
|
rs780457592
|
0.00003
|
NM_001023.4(RPS20):c.333G>A (p.Glu111=)
|
rs752579707
|
0.00003
|
NM_001023.4(RPS20):c.4-16A>G
|
rs755008239
|
0.00003
|
NM_001040108.2(MLH3):c.2941G>A (p.Gly981Ser)
|
rs377337763
|
0.00003
|
NM_001040108.2(MLH3):c.3235A>G (p.Thr1079Ala)
|
rs200350079
|
0.00003
|
NM_001040108.2(MLH3):c.4097T>C (p.Ile1366Thr)
|
rs61752724
|
0.00003
|
NM_001040108.2(MLH3):c.958T>G (p.Cys320Gly)
|
rs1334932761
|
0.00003
|
NM_001042492.3(NF1):c.8216T>C (p.Ile2739Thr)
|
rs752541243
|
0.00003
|
NM_001048174.2(MUTYH):c.1130C>T (p.Pro377Leu)
|
rs529008617
|
0.00003
|
NM_001048174.2(MUTYH):c.1399C>T (p.Arg467Cys)
|
rs587781668
|
0.00003
|
NM_001048174.2(MUTYH):c.1472G>A (p.Arg491Gln)
|
rs369410616
|
0.00003
|
NM_001048174.2(MUTYH):c.14G>A (p.Arg5Gln)
|
rs587780081
|
0.00003
|
NM_001048174.2(MUTYH):c.1516C>T (p.Arg506Trp)
|
rs144616312
|
0.00003
|
NM_001048174.2(MUTYH):c.304+37C>T
|
rs376746333
|
0.00003
|
NM_001048174.2(MUTYH):c.420+34C>T
|
rs556365985
|
0.00003
|
NM_001048174.2(MUTYH):c.991C>A (p.Pro331Thr)
|
rs587782773
|
0.00003
|
NM_001082486.2(ACD):c.1017C>T (p.Ser339=)
|
rs769298187
|
0.00003
|
NM_001082486.2(ACD):c.602C>T (p.Ala201Val)
|
rs777707916
|
0.00003
|
NM_001099274.3(TINF2):c.1221+3G>C
|
rs762455414
|
0.00003
|
NM_001110556.2(FLNA):c.1693C>T (p.Pro565Ser)
|
rs782580317
|
0.00003
|
NM_001114748.2(TMEM240):c.239C>T (p.Thr80Met)
|
rs606231454
|
0.00003
|
NM_001127511.3(APC):c.130G>A (p.Ala44Thr)
|
rs367773779
|
0.00003
|
NM_001127511.3(APC):c.71C>T (p.Ser24Phe)
|
rs770241997
|
0.00003
|
NM_001322934.2(NFKB2):c.472C>T (p.Arg158Trp)
|
rs776075705
|
0.00003
|
NM_001354604.2(MITF):c.1031+15G>A
|
rs144757214
|
0.00003
|
NM_001354604.2(MITF):c.1179+4C>T
|
rs749869303
|
0.00003
|
NM_001354604.2(MITF):c.1569G>A (p.Glu523=)
|
rs200830148
|
0.00003
|
NM_001354604.2(MITF):c.513G>A (p.Pro171=)
|
rs774998383
|
0.00003
|
NM_001363763.2(CDKN2A):c.-4+284G>C
|
rs1460140954
|
0.00003
|
NM_001385012.1(NBEA):c.73G>A (p.Ala25Thr)
|
rs1363004176
|
0.00003
|
NM_001903.5(CTNNA1):c.505A>G (p.Asn169Asp)
|
rs778667305
|
0.00003
|
NM_002067.5(GNA11):c.736-12C>T
|
rs544105544
|
0.00003
|
NM_002439.5(MSH3):c.1365C>T (p.Val455=)
|
rs771995449
|
0.00003
|
NM_002439.5(MSH3):c.1897-41T>C
|
rs767911868
|
0.00003
|
NM_002439.5(MSH3):c.2006G>A (p.Arg669Gln)
|
rs372048303
|
0.00003
|
NM_002439.5(MSH3):c.2084+9C>T
|
rs752910192
|
0.00003
|
NM_002439.5(MSH3):c.2172C>T (p.Asp724=)
|
rs541680738
|
0.00003
|
NM_002439.5(MSH3):c.2835A>G (p.Ile945Met)
|
rs750951036
|
0.00003
|
NM_002439.5(MSH3):c.3231T>C (p.Asp1077=)
|
rs529394454
|
0.00003
|
NM_002439.5(MSH3):c.358+5G>A
|
rs200850015
|
0.00003
|
NM_002439.5(MSH3):c.582C>G (p.Asp194Glu)
|
rs749446559
|
0.00003
|
NM_002439.5(MSH3):c.792+31T>G
|
rs752928843
|
0.00003
|
NM_002439.5(MSH3):c.923A>T (p.Lys308Met)
|
rs746243211
|
0.00003
|
NM_002485.5(NBN):c.302T>C (p.Val101Ala)
|
rs185493105
|
0.00003
|
NM_002528.7(NTHL1):c.273C>T (p.Ile91=)
|
rs751900193
|
0.00003
|
NM_002528.7(NTHL1):c.345C>T (p.Ala115=)
|
rs781125710
|
0.00003
|
NM_002528.7(NTHL1):c.577G>A (p.Gly193Ser)
|
rs200007034
|
0.00003
|
NM_002691.4(POLD1):c.1157G>A (p.Arg386His)
|
rs764023083
|
0.00003
|
NM_002691.4(POLD1):c.1278C>T (p.Gly426=)
|
rs751077073
|
0.00003
|
NM_002691.4(POLD1):c.1362C>T (p.Arg454=)
|
rs773075581
|
0.00003
|
NM_002691.4(POLD1):c.1775+16G>A
|
rs201259846
|
0.00003
|
NM_002691.4(POLD1):c.2293G>A (p.Val765Met)
|
rs759190487
|
0.00003
|
NM_002691.4(POLD1):c.2517C>T (p.Leu839=)
|
rs374928804
|
0.00003
|
NM_002691.4(POLD1):c.3016G>A (p.Ala1006Thr)
|
rs376197467
|
0.00003
|
NM_002691.4(POLD1):c.3068-12G>A
|
rs376581180
|
0.00003
|
NM_002691.4(POLD1):c.3249G>A (p.Lys1083=)
|
rs760214407
|
0.00003
|
NM_002691.4(POLD1):c.328C>T (p.Pro110Ser)
|
rs531059492
|
0.00003
|
NM_002691.4(POLD1):c.554C>T (p.Pro185Leu)
|
rs370292497
|
0.00003
|
NM_002691.4(POLD1):c.841-10A>G
|
rs140160345
|
0.00003
|
NM_002878.4(RAD51D):c.202G>A (p.Gly68Ser)
|
rs775045445
|
0.00003
|
NM_003000.3(SDHB):c.-6G>A
|
rs2295056
|
0.00003
|
NM_003000.3(SDHB):c.541-36G>A
|
rs537705928
|
0.00003
|
NM_004329.3(BMPR1A):c.430+41T>C
|
rs777675370
|
0.00003
|
NM_004360.5(CDH1):c.1161C>T (p.Asn387=)
|
rs111266450
|
0.00003
|
NM_004360.5(CDH1):c.1417G>A (p.Val473Ile)
|
rs36087757
|
0.00003
|
NM_004360.5(CDH1):c.160A>G (p.Arg54Gly)
|
rs587781329
|
0.00003
|
NM_004360.5(CDH1):c.1689C>T (p.Ala563=)
|
rs587780786
|
0.00003
|
NM_004360.5(CDH1):c.1783C>T (p.Pro595Ser)
|
rs755622441
|
0.00003
|
NM_004360.5(CDH1):c.221G>A (p.Arg74Gln)
|
rs761562625
|
0.00003
|
NM_004360.5(CDH1):c.2331C>T (p.Asp777=)
|
rs114265540
|
0.00003
|
NM_004360.5(CDH1):c.2350C>T (p.Arg784Cys)
|
rs775922721
|
0.00003
|
NM_004360.5(CDH1):c.304G>A (p.Ala102Thr)
|
rs368492235
|
0.00003
|
NM_004360.5(CDH1):c.499G>A (p.Glu167Lys)
|
rs769076258
|
0.00003
|
NM_004655.4(AXIN2):c.1200+20C>T
|
rs766847390
|
0.00003
|
NM_004655.4(AXIN2):c.1201-19C>T
|
rs773001468
|
0.00003
|
NM_004655.4(AXIN2):c.1284C>T (p.Ser428=)
|
rs750126379
|
0.00003
|
NM_004655.4(AXIN2):c.1636G>A (p.Gly546Ser)
|
rs780472818
|
0.00003
|
NM_004655.4(AXIN2):c.2123C>T (p.Ser708Leu)
|
rs587780123
|
0.00003
|
NM_004655.4(AXIN2):c.2405+4A>G
|
rs377423720
|
0.00003
|
NM_004655.4(AXIN2):c.645C>T (p.Leu215=)
|
rs767834824
|
0.00003
|
NM_004656.4(BAP1):c.1217A>T (p.Glu406Val)
|
rs535695655
|
0.00003
|
NM_004656.4(BAP1):c.1219G>A (p.Asp407Asn)
|
rs765347562
|
0.00003
|
NM_004656.4(BAP1):c.1291G>A (p.Gly431Ser)
|
rs915913191
|
0.00003
|
NM_004656.4(BAP1):c.1890+11G>A
|
rs537090290
|
0.00003
|
NM_004656.4(BAP1):c.1944G>A (p.Ala648=)
|
rs150494756
|
0.00003
|
NM_004656.4(BAP1):c.2103C>T (p.Arg701=)
|
rs757780962
|
0.00003
|
NM_004656.4(BAP1):c.255+6_255+7insA
|
rs778194859
|
0.00003
|
NM_004656.4(BAP1):c.783+12T>G
|
rs749694454
|
0.00003
|
NM_004656.4(BAP1):c.783+15T>G
|
rs769511685
|
0.00003
|
NM_004936.4(CDKN2B):c.156+18G>T
|
rs372340557
|
0.00003
|
NM_005359.6(SMAD4):c.1215C>T (p.His405=)
|
rs751732234
|
0.00003
|
NM_006231.4(POLE):c.-47G>T
|
rs1014146082
|
0.00003
|
NM_006231.4(POLE):c.1274A>G (p.Lys425Arg)
|
rs757186755
|
0.00003
|
NM_006231.4(POLE):c.1281C>T (p.Ala427=)
|
rs371586756
|
0.00003
|
NM_006231.4(POLE):c.1389T>C (p.Ala463=)
|
rs1014643567
|
0.00003
|
NM_006231.4(POLE):c.1471G>A (p.Glu491Lys)
|
rs776770625
|
0.00003
|
NM_006231.4(POLE):c.1473+42C>T
|
rs145932396
|
0.00003
|
NM_006231.4(POLE):c.1473+43C>T
|
rs144166399
|
0.00003
|
NM_006231.4(POLE):c.1837G>A (p.Val613Ile)
|
rs200471266
|
0.00003
|
NM_006231.4(POLE):c.1847G>A (p.Arg616His)
|
rs764558974
|
0.00003
|
NM_006231.4(POLE):c.2271C>T (p.Thr757=)
|
rs765532123
|
0.00003
|
NM_006231.4(POLE):c.2276G>A (p.Arg759His)
|
rs746774432
|
0.00003
|
NM_006231.4(POLE):c.2333A>C (p.Lys778Thr)
|
rs868832791
|
0.00003
|
NM_006231.4(POLE):c.3065C>T (p.Ala1022Val)
|
rs756998826
|
0.00003
|
NM_006231.4(POLE):c.3582+5C>T
|
rs775661457
|
0.00003
|
NM_006231.4(POLE):c.4112G>A (p.Arg1371Gln)
|
rs535074635
|
0.00003
|
NM_006231.4(POLE):c.4125G>A (p.Ala1375=)
|
rs374210113
|
0.00003
|
NM_006231.4(POLE):c.424-10C>T
|
rs748433747
|
0.00003
|
NM_006231.4(POLE):c.424-20G>A
|
rs781020097
|
0.00003
|
NM_006231.4(POLE):c.4551+18C>T
|
rs747006780
|
0.00003
|
NM_006231.4(POLE):c.4708C>T (p.Arg1570Ter)
|
rs1037592848
|
0.00003
|
NM_006231.4(POLE):c.5002G>A (p.Gly1668Ser)
|
rs371348453
|
0.00003
|
NM_006231.4(POLE):c.5173+10C>T
|
rs371098994
|
0.00003
|
NM_006231.4(POLE):c.5339C>G (p.Ala1780Gly)
|
rs1024088828
|
0.00003
|
NM_006231.4(POLE):c.5467C>T (p.Arg1823Cys)
|
rs753627422
|
0.00003
|
NM_006231.4(POLE):c.5478G>T (p.Arg1826=)
|
rs537648186
|
0.00003
|
NM_006231.4(POLE):c.5553-22G>A
|
rs765357630
|
0.00003
|
NM_006231.4(POLE):c.5730C>G (p.Cys1910Trp)
|
rs549163600
|
0.00003
|
NM_006231.4(POLE):c.6321C>T (p.Tyr2107=)
|
rs201656807
|
0.00003
|
NM_006231.4(POLE):c.786C>T (p.Asp262=)
|
rs201223598
|
0.00003
|
NM_007194.4(CHEK2):c.1022A>C (p.Asn341Thr)
|
rs773846607
|
0.00003
|
NM_007194.4(CHEK2):c.1133C>T (p.Thr378Ile)
|
rs587780167
|
0.00003
|
NM_007194.4(CHEK2):c.1561C>T (p.Arg521Trp)
|
rs533475838
|
0.00003
|
NM_007194.4(CHEK2):c.1581C>T (p.Ala527=)
|
rs781593101
|
0.00003
|
NM_007194.4(CHEK2):c.917G>C (p.Gly306Ala)
|
rs587780192
|
0.00003
|
NM_007294.4(BRCA1):c.1573G>A (p.Val525Ile)
|
rs80357273
|
0.00003
|
NM_007294.4(BRCA1):c.1881C>G (p.Val627=)
|
rs80356838
|
0.00003
|
NM_007294.4(BRCA1):c.2123C>A (p.Ser708Tyr)
|
rs80357182
|
0.00003
|
NM_007294.4(BRCA1):c.3747C>T (p.Thr1249=)
|
rs587780801
|
0.00003
|
NM_007294.4(BRCA1):c.5189A>G (p.Asn1730Ser)
|
rs80357171
|
0.00003
|
NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter)
|
rs80357123
|
0.00003
|
NM_007294.4(BRCA1):c.5347A>C (p.Met1783Leu)
|
rs80357012
|
0.00003
|
NM_007294.4(BRCA1):c.612G>C (p.Leu204Phe)
|
rs80357394
|
0.00003
|
NM_007294.4(BRCA1):c.671-8A>G
|
rs80358144
|
0.00003
|
NM_007294.4(BRCA1):c.811G>A (p.Val271Met)
|
rs80357244
|
0.00003
|
NM_012433.4(SF3B1):c.1997A>G (p.Lys666Arg)
|
rs374250186
|
0.00003
|
NM_015450.3(POT1):c.1256A>G (p.Tyr419Cys)
|
rs770213689
|
0.00003
|
NM_015450.3(POT1):c.1490C>A (p.Thr497Lys)
|
rs879897044
|
0.00003
|
NM_015450.3(POT1):c.1810G>A (p.Glu604Lys)
|
rs753762757
|
0.00003
|
NM_015450.3(POT1):c.950-40T>C
|
rs544128807
|
0.00003
|
NM_016169.4(SUFU):c.873C>T (p.Ile291=)
|
rs763453891
|
0.00003
|
NM_017763.6(RNF43):c.-9G>A
|
rs201981237
|
0.00003
|
NM_017763.6(RNF43):c.1210C>T (p.Arg404Cys)
|
rs767761157
|
0.00003
|
NM_017763.6(RNF43):c.1948C>T (p.Arg650Ter)
|
rs371553160
|
0.00003
|
NM_017763.6(RNF43):c.615G>A (p.Val205=)
|
rs377300761
|
0.00003
|
NM_020975.6(RET):c.3090C>T (p.Asp1030=)
|
rs142859395
|
0.00003
|
NM_020975.6(RET):c.3185A>G (p.Tyr1062Cys)
|
rs587778659
|
0.00003
|
NM_024675.4(PALB2):c.1189A>T (p.Thr397Ser)
|
rs367578415
|
0.00003
|
NM_024675.4(PALB2):c.1272C>T (p.Ala424=)
|
rs754720030
|
0.00003
|
NM_024675.4(PALB2):c.2897T>C (p.Ile966Thr)
|
rs587780214
|
0.00003
|
NM_024675.4(PALB2):c.2997-28C>T
|
rs1031537530
|
0.00003
|
NM_024675.4(PALB2):c.3113+34T>C
|
rs201387125
|
0.00003
|
NM_024675.4(PALB2):c.3146T>C (p.Met1049Thr)
|
rs138273800
|
0.00003
|
NM_024675.4(PALB2):c.3201+10G>A
|
rs759499251
|
0.00003
|
NM_032043.3(BRIP1):c.1372G>T (p.Glu458Ter)
|
rs587780228
|
0.00003
|
NM_032043.3(BRIP1):c.1444A>G (p.Ile482Val)
|
rs142744352
|
0.00003
|
NM_032043.3(BRIP1):c.1652C>A (p.Ala551Glu)
|
rs375246789
|
0.00003
|
NM_032043.3(BRIP1):c.2285G>A (p.Arg762His)
|
rs200960251
|
0.00003
|
NM_032043.3(BRIP1):c.2748C>T (p.Tyr916=)
|
rs555200296
|
0.00003
|
NM_032043.3(BRIP1):c.2854A>G (p.Ile952Val)
|
rs200239986
|
0.00003
|
NM_032043.3(BRIP1):c.312T>G (p.Thr104=)
|
rs769190318
|
0.00003
|
NM_032043.3(BRIP1):c.3651G>A (p.Trp1217Ter)
|
rs542698396
|
0.00003
|
NM_032043.3(BRIP1):c.728T>C (p.Ile243Thr)
|
rs587781860
|
0.00003
|
NM_032492.4(JAGN1):c.211C>T (p.Pro71Ser)
|
rs200023062
|
0.00003
|
NM_058195.4(CDKN2A):c.193+16G>A
|
rs752309957
|
0.00003
|
NM_058195.4(CDKN2A):c.56G>T (p.Arg19Leu)
|
rs748616717
|
0.00003
|
NM_058216.3(RAD51C):c.706-13C>G
|
rs747406535
|
0.00003
|
NM_058216.3(RAD51C):c.905-19T>C
|
rs368114768
|
0.00003
|
NM_144997.7(FLCN):c.-12C>T
|
rs779391001
|
0.00003
|
NM_144997.7(FLCN):c.1140C>T (p.Asp380=)
|
rs768454196
|
0.00003
|
NM_144997.7(FLCN):c.12C>T (p.Ile4=)
|
rs752123350
|
0.00003
|
NM_144997.7(FLCN):c.1433-36C>T
|
rs564294188
|
0.00003
|
NM_144997.7(FLCN):c.1637A>G (p.Asn546Ser)
|
rs775149348
|
0.00003
|
NM_144997.7(FLCN):c.429C>T (p.Phe143=)
|
rs773792624
|
0.00003
|
NM_144997.7(FLCN):c.450T>C (p.Phe150=)
|
rs200672897
|
0.00003
|
NM_144997.7(FLCN):c.971A>G (p.Gln324Arg)
|
rs767368450
|
0.00003
|
NM_177438.3(DICER1):c.1813A>G (p.Met605Val)
|
rs759958601
|
0.00003
|
NM_177438.3(DICER1):c.4102C>T (p.Arg1368Cys)
|
rs752740048
|
0.00003
|
NM_177438.3(DICER1):c.4295C>T (p.Pro1432Leu)
|
rs747593690
|
0.00003
|
NM_177438.3(DICER1):c.574-19G>T
|
rs372965421
|
0.00003
|
NM_000038.6(APC):c.1554G>A (p.Thr518=)
|
rs546568052
|
0.00002
|
NM_000038.6(APC):c.2026A>G (p.Ile676Val)
|
rs745529713
|
0.00002
|
NM_000038.6(APC):c.220+16G>T
|
rs756214797
|
0.00002
|
NM_000038.6(APC):c.423-29C>T
|
rs925761509
|
0.00002
|
NM_000038.6(APC):c.4310A>G (p.Lys1437Arg)
|
rs745825088
|
0.00002
|
NM_000038.6(APC):c.5823A>G (p.Pro1941=)
|
rs770869007
|
0.00002
|
NM_000038.6(APC):c.6512G>A (p.Gly2171Glu)
|
rs748745776
|
0.00002
|
NM_000038.6(APC):c.6539A>G (p.Lys2180Arg)
|
rs762955111
|
0.00002
|
NM_000038.6(APC):c.7105C>T (p.Pro2369Ser)
|
rs377308875
|
0.00002
|
NM_000038.6(APC):c.7443T>A (p.Thr2481=)
|
rs147757080
|
0.00002
|
NM_000038.6(APC):c.7821C>T (p.Ser2607=)
|
rs532235331
|
0.00002
|
NM_000038.6(APC):c.8141G>A (p.Arg2714His)
|
rs747362422
|
0.00002
|
NM_000038.6(APC):c.8199A>G (p.Gln2733=)
|
rs372365378
|
0.00002
|
NM_000051.4(ATM):c.1235+20T>G
|
rs762656752
|
0.00002
|
NM_000051.4(ATM):c.1379C>T (p.Thr460Met)
|
rs587781841
|
0.00002
|
NM_000051.4(ATM):c.2159G>A (p.Arg720His)
|
rs55830714
|
0.00002
|
NM_000051.4(ATM):c.2921+16C>A
|
rs558376224
|
0.00002
|
NM_000051.4(ATM):c.3212A>G (p.Asn1071Ser)
|
rs755237639
|
0.00002
|
NM_000051.4(ATM):c.3219A>G (p.Val1073=)
|
rs752849892
|
0.00002
|
NM_000051.4(ATM):c.3402+16A>G
|
rs763382531
|
0.00002
|
NM_000051.4(ATM):c.3993+1G>A
|
rs200196781
|
0.00002
|
NM_000051.4(ATM):c.3994-2A>G
|
rs587782276
|
0.00002
|
NM_000051.4(ATM):c.4306C>T (p.His1436Tyr)
|
rs544891616
|
0.00002
|
NM_000051.4(ATM):c.4437-9C>T
|
rs766003804
|
0.00002
|
NM_000051.4(ATM):c.5762+6G>A
|
rs776532221
|
0.00002
|
NM_000051.4(ATM):c.6153C>T (p.Leu2051=)
|
rs876658452
|
0.00002
|
NM_000051.4(ATM):c.6199-18_6199-15del
|
rs777036353
|
0.00002
|
NM_000051.4(ATM):c.6396A>G (p.Leu2132=)
|
rs370537345
|
0.00002
|
NM_000051.4(ATM):c.7563C>T (p.Tyr2521=)
|
rs772228129
|
0.00002
|
NM_000051.4(ATM):c.7775C>G (p.Ser2592Cys)
|
rs755009196
|
0.00002
|
NM_000051.4(ATM):c.7788+19C>T
|
rs201990371
|
0.00002
|
NM_000051.4(ATM):c.8450A>G (p.Tyr2817Cys)
|
rs747764678
|
0.00002
|
NM_000051.4(ATM):c.8786+1G>A
|
rs17174393
|
0.00002
|
NM_000059.4(BRCA2):c.10089A>G (p.Ile3363Met)
|
rs80358390
|
0.00002
|
NM_000059.4(BRCA2):c.10154G>A (p.Arg3385His)
|
rs80358398
|
0.00002
|
NM_000059.4(BRCA2):c.10202C>T (p.Thr3401Met)
|
rs55853199
|
0.00002
|
NM_000059.4(BRCA2):c.167A>C (p.Asn56Thr)
|
rs80358454
|
0.00002
|
NM_000059.4(BRCA2):c.179A>G (p.Asn60Ser)
|
rs80358463
|
0.00002
|
NM_000059.4(BRCA2):c.1804G>A (p.Gly602Arg)
|
rs80358466
|
0.00002
|
NM_000059.4(BRCA2):c.2256C>T (p.Asp752=)
|
rs766384913
|
0.00002
|
NM_000059.4(BRCA2):c.2944A>C (p.Ile982Leu)
|
rs28897717
|
0.00002
|
NM_000059.4(BRCA2):c.3310A>C (p.Thr1104Pro)
|
rs80358577
|
0.00002
|
NM_000059.4(BRCA2):c.353G>A (p.Arg118His)
|
rs80358603
|
0.00002
|
NM_000059.4(BRCA2):c.3916G>A (p.Val1306Ile)
|
rs80358636
|
0.00002
|
NM_000059.4(BRCA2):c.3962A>G (p.Asp1321Gly)
|
rs80358645
|
0.00002
|
NM_000059.4(BRCA2):c.4178C>T (p.Ala1393Val)
|
rs398122776
|
0.00002
|
NM_000059.4(BRCA2):c.4767A>G (p.Pro1589=)
|
rs755818549
|
0.00002
|
NM_000059.4(BRCA2):c.4779A>C (p.Glu1593Asp)
|
rs80358703
|
0.00002
|
NM_000059.4(BRCA2):c.5113A>G (p.Ile1705Val)
|
rs80358737
|
0.00002
|
NM_000059.4(BRCA2):c.7413A>G (p.Thr2471=)
|
rs138067005
|
0.00002
|
NM_000059.4(BRCA2):c.7534C>T (p.Leu2512Phe)
|
rs80358980
|
0.00002
|
NM_000059.4(BRCA2):c.7616A>G (p.Gln2539Arg)
|
rs144728108
|
0.00002
|
NM_000059.4(BRCA2):c.7618-22T>C
|
rs750402304
|
0.00002
|
NM_000059.4(BRCA2):c.794-11T>C
|
rs81002822
|
0.00002
|
NM_000059.4(BRCA2):c.7986G>A (p.Thr2662=)
|
rs1057522378
|
0.00002
|
NM_000059.4(BRCA2):c.8007A>G (p.Arg2669=)
|
rs143999963
|
0.00002
|
NM_000059.4(BRCA2):c.800G>A (p.Gly267Glu)
|
rs80359036
|
0.00002
|
NM_000059.4(BRCA2):c.8331+16C>G
|
rs730881595
|
0.00002
|
NM_000059.4(BRCA2):c.8360G>A (p.Arg2787His)
|
rs80359078
|
0.00002
|
NM_000059.4(BRCA2):c.8739C>G (p.Asp2913Glu)
|
rs786201996
|
0.00002
|
NM_000059.4(BRCA2):c.9285C>T (p.Asp3095=)
|
rs80359198
|
0.00002
|
NM_000059.4(BRCA2):c.9501+4A>G
|
rs81002848
|
0.00002
|
NM_000059.4(BRCA2):c.9918C>A (p.Thr3306=)
|
rs562881210
|
0.00002
|
NM_000075.4(CDK4):c.763C>T (p.Arg255Cys)
|
rs587778188
|
0.00002
|
NM_000077.5(CDKN2A):c.151G>A (p.Val51Ile)
|
rs762630679
|
0.00002
|
NM_000077.5(CDKN2A):c.198C>T (p.His66=)
|
rs374984975
|
0.00002
|
NM_000138.5(FBN1):c.5518C>T (p.Arg1840Cys)
|
rs765387131
|
0.00002
|
NM_000143.4(FH):c.1283T>C (p.Val428Ala)
|
rs201644919
|
0.00002
|
NM_000143.4(FH):c.358A>G (p.Ile120Val)
|
rs199641124
|
0.00002
|
NM_000143.4(FH):c.702T>G (p.Thr234=)
|
rs201083387
|
0.00002
|
NM_000179.3(MSH6):c.166_171dup (p.54GP[3])
|
rs786201776
|
0.00002
|
NM_000179.3(MSH6):c.1773A>G (p.Pro591=)
|
rs752239740
|
0.00002
|
NM_000179.3(MSH6):c.2092C>G (p.Gln698Glu)
|
rs63750832
|
0.00002
|
NM_000179.3(MSH6):c.3163G>A (p.Ala1055Thr)
|
rs587779254
|
0.00002
|
NM_000179.3(MSH6):c.321T>C (p.Pro107=)
|
rs730881823
|
0.00002
|
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys)
|
rs63750617
|
0.00002
|
NM_000179.3(MSH6):c.354A>G (p.Thr118=)
|
rs558590898
|
0.00002
|
NM_000179.3(MSH6):c.3557G>A (p.Gly1186Asp)
|
rs587781690
|
0.00002
|
NM_000179.3(MSH6):c.457+31T>G
|
rs574391322
|
0.00002
|
NM_000179.3(MSH6):c.759T>C (p.Asp253=)
|
rs757143365
|
0.00002
|
NM_000179.3(MSH6):c.899G>A (p.Arg300Gln)
|
rs55760494
|
0.00002
|
NM_000179.3(MSH6):c.94G>T (p.Gly32Cys)
|
rs776859837
|
0.00002
|
NM_000245.4(MET):c.1343G>A (p.Gly448Glu)
|
rs750256779
|
0.00002
|
NM_000245.4(MET):c.1862+24T>A
|
rs758246482
|
0.00002
|
NM_000245.4(MET):c.2102+12T>G
|
rs199685502
|
0.00002
|
NM_000245.4(MET):c.2216G>A (p.Arg739His)
|
rs45553236
|
0.00002
|
NM_000245.4(MET):c.2755G>A (p.Val919Ile)
|
rs759522148
|
0.00002
|
NM_000245.4(MET):c.2888-41T>C
|
rs775541395
|
0.00002
|
NM_000245.4(MET):c.4145G>A (p.Arg1382Gln)
|
rs752694306
|
0.00002
|
NM_000249.4(MLH1):c.226G>A (p.Val76Ile)
|
rs878853788
|
0.00002
|
NM_000249.4(MLH1):c.303T>G (p.Gly101=)
|
rs4647220
|
0.00002
|
NM_000249.4(MLH1):c.595G>C (p.Glu199Gln)
|
rs63749887
|
0.00002
|
NM_000251.3(MSH2):c.1276+7A>G
|
rs748554540
|
0.00002
|
NM_000251.3(MSH2):c.1570C>T (p.Arg524Cys)
|
rs755818010
|
0.00002
|
NM_000251.3(MSH2):c.2006-36_2006-33dup
|
rs587779126
|
0.00002
|
NM_000251.3(MSH2):c.2362A>C (p.Thr788Pro)
|
rs774440277
|
0.00002
|
NM_000251.3(MSH2):c.2379G>T (p.Gln793His)
|
rs767520406
|
0.00002
|
NM_000251.3(MSH2):c.2635-11A>G
|
rs201291595
|
0.00002
|
NM_000251.3(MSH2):c.2777T>A (p.Ile926Asn)
|
rs199747712
|
0.00002
|
NM_000264.5(PTCH1):c.1067+14C>T
|
rs759069478
|
0.00002
|
NM_000264.5(PTCH1):c.1215+14C>T
|
rs367857273
|
0.00002
|
NM_000264.5(PTCH1):c.129C>T (p.Ala43=)
|
rs763200358
|
0.00002
|
NM_000264.5(PTCH1):c.3621C>T (p.Phe1207=)
|
rs778335980
|
0.00002
|
NM_000314.8(PTEN):c.164+28A>G
|
rs754309090
|
0.00002
|
NM_000388.4(CASR):c.1377+17T>C
|
rs200650843
|
0.00002
|
NM_000398.7(CYB5R3):c.875G>A (p.Gly292Asp)
|
rs121965016
|
0.00002
|
NM_000455.5(STK11):c.*16+16G>C
|
rs762548463
|
0.00002
|
NM_000455.5(STK11):c.-9G>A
|
rs770466669
|
0.00002
|
NM_000455.5(STK11):c.1108+3G>A
|
rs755746417
|
0.00002
|
NM_000455.5(STK11):c.1109-14C>T
|
rs780434041
|
0.00002
|
NM_000455.5(STK11):c.1168G>A (p.Val390Met)
|
rs374078532
|
0.00002
|
NM_000455.5(STK11):c.1229C>T (p.Ala410Val)
|
rs372329880
|
0.00002
|
NM_000455.5(STK11):c.734+44G>A
|
rs556200126
|
0.00002
|
NM_000463.3(UGT1A1):c.1021C>T (p.Arg341Ter)
|
rs72551349
|
0.00002
|
NM_000465.4(BARD1):c.1194A>G (p.Thr398=)
|
rs781482219
|
0.00002
|
NM_000465.4(BARD1):c.1212C>G (p.Tyr404Ter)
|
rs587782681
|
0.00002
|
NM_000465.4(BARD1):c.1569-13C>G
|
rs587780018
|
0.00002
|
NM_000465.4(BARD1):c.2051A>G (p.Lys684Arg)
|
rs780161956
|
0.00002
|
NM_000465.4(BARD1):c.556A>G (p.Ser186Gly)
|
rs16852741
|
0.00002
|
NM_000527.5(LDLR):c.268G>A (p.Asp90Asn)
|
rs749038326
|
0.00002
|
NM_000535.7(PMS2):c.1170G>A (p.Ala390=)
|
rs755578413
|
0.00002
|
NM_000535.7(PMS2):c.1981G>A (p.Glu661Lys)
|
rs778531080
|
0.00002
|
NM_000535.7(PMS2):c.2240G>C (p.Arg747Thr)
|
rs587782671
|
0.00002
|
NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu)
|
rs587779338
|
0.00002
|
NM_000535.7(PMS2):c.972C>A (p.Asn324Lys)
|
rs182085259
|
0.00002
|
NM_000546.6(TP53):c.466C>T (p.Arg156Cys)
|
rs563378859
|
0.00002
|
NM_000546.6(TP53):c.582T>C (p.Leu194=)
|
rs370216745
|
0.00002
|
NM_000546.6(TP53):c.612G>A (p.Glu204=)
|
rs749629973
|
0.00002
|
NM_000546.6(TP53):c.665C>T (p.Pro222Leu)
|
rs146340390
|
0.00002
|
NM_000546.6(TP53):c.743G>A (p.Arg248Gln)
|
rs11540652
|
0.00002
|
NM_000551.4(VHL):c.315G>C (p.Thr105=)
|
rs769102979
|
0.00002
|
NM_000791.4(DHFR):c.-425G>C
|
rs2405876
|
0.00002
|
NM_001018115.3(FANCD2):c.3865C>T (p.Pro1289Ser)
|
rs781605384
|
0.00002
|
NM_001040108.2(MLH3):c.1004C>T (p.Thr335Ile)
|
rs762823997
|
0.00002
|
NM_001040108.2(MLH3):c.1479A>G (p.Glu493=)
|
rs771363474
|
0.00002
|
NM_001040108.2(MLH3):c.2562G>A (p.Lys854=)
|
rs778046851
|
0.00002
|
NM_001040108.2(MLH3):c.278G>A (p.Arg93Gln)
|
rs781779034
|
0.00002
|
NM_001040108.2(MLH3):c.3568C>A (p.Gln1190Lys)
|
rs779651509
|
0.00002
|
NM_001040108.2(MLH3):c.3987+12C>A
|
rs752403053
|
0.00002
|
NM_001040108.2(MLH3):c.4289G>A (p.Arg1430His)
|
rs760305520
|
0.00002
|
NM_001048174.2(MUTYH):c.460C>T (p.Arg154Cys)
|
rs747993448
|
0.00002
|
NM_001048174.2(MUTYH):c.914-18G>A
|
rs750710892
|
0.00002
|
NM_001082486.2(ACD):c.1213C>A (p.Pro405Thr)
|
rs201441120
|
0.00002
|
NM_001082486.2(ACD):c.1370C>T (p.Pro457Leu)
|
rs150387011
|
0.00002
|
NM_001082486.2(ACD):c.609T>C (p.Pro203=)
|
rs752926001
|
0.00002
|
NM_001082486.2(ACD):c.829+35C>T
|
rs377522855
|
0.00002
|
NM_001082486.2(ACD):c.853A>G (p.Met285Val)
|
rs780951085
|
0.00002
|
NM_001082486.2(ACD):c.99+20C>T
|
rs751731124
|
0.00002
|
NM_001099274.3(TINF2):c.507+14A>G
|
rs888526948
|
0.00002
|
NM_001127511.3(APC):c.-79G>A
|
rs1369181601
|
0.00002
|
NM_001903.5(CTNNA1):c.1143+5T>C
|
rs766106863
|
0.00002
|
NM_001972.4(ELANE):c.556G>A (p.Val186Ile)
|
rs140642538
|
0.00002
|
NM_002067.5(GNA11):c.150C>T (p.Ser50=)
|
rs759067107
|
0.00002
|
NM_002382.5(MAX):c.329A>C (p.Gln110Pro)
|
rs775808138
|
0.00002
|
NM_002439.5(MSH3):c.1028-6T>C
|
rs769258876
|
0.00002
|
NM_002439.5(MSH3):c.2160A>G (p.Gln720=)
|
rs774324304
|
0.00002
|
NM_002439.5(MSH3):c.2748T>C (p.Ala916=)
|
rs771253300
|
0.00002
|
NM_002439.5(MSH3):c.3001-9T>C
|
rs1004547624
|
0.00002
|
NM_002439.5(MSH3):c.3035C>T (p.Pro1012Leu)
|
rs371367632
|
0.00002
|
NM_002439.5(MSH3):c.3338T>C (p.Met1113Thr)
|
rs747331232
|
0.00002
|
NM_002439.5(MSH3):c.888C>T (p.Arg296=)
|
rs555948314
|
0.00002
|
NM_002528.7(NTHL1):c.20G>C (p.Arg7Thr)
|
rs930166212
|
0.00002
|
NM_002528.7(NTHL1):c.332A>G (p.Tyr111Cys)
|
rs138812334
|
0.00002
|
NM_002691.4(POLD1):c.-1-44T>C
|
rs3219364
|
0.00002
|
NM_002691.4(POLD1):c.1041G>A (p.Pro347=)
|
rs41553718
|
0.00002
|
NM_002691.4(POLD1):c.1138-3C>T
|
rs200072694
|
0.00002
|
NM_002691.4(POLD1):c.132G>A (p.Met44Ile)
|
rs757575448
|
0.00002
|
NM_002691.4(POLD1):c.1384-17C>G
|
rs770762282
|
0.00002
|
NM_002691.4(POLD1):c.1791C>T (p.Pro597=)
|
rs138293440
|
0.00002
|
NM_002691.4(POLD1):c.2346G>A (p.Val782=)
|
rs1406011948
|
0.00002
|
NM_002691.4(POLD1):c.2430G>A (p.Ala810=)
|
rs763386334
|
0.00002
|
NM_002691.4(POLD1):c.2564G>T (p.Arg855Leu)
|
rs868847470
|
0.00002
|
NM_002691.4(POLD1):c.258G>A (p.Ala86=)
|
rs200687128
|
0.00002
|
NM_002691.4(POLD1):c.2598C>T (p.Asp866=)
|
rs773567499
|
0.00002
|
NM_002691.4(POLD1):c.2624G>A (p.Arg875His)
|
rs754832710
|
0.00002
|
NM_002691.4(POLD1):c.3219-4G>A
|
rs756232002
|
0.00002
|
NM_002691.4(POLD1):c.376C>T (p.Arg126Cys)
|
rs864622753
|
0.00002
|
NM_002878.4(RAD51D):c.334G>A (p.Gly112Ser)
|
rs753856224
|
0.00002
|
NM_002878.4(RAD51D):c.481-26C>T
|
rs1185393926
|
0.00002
|
NM_002878.4(RAD51D):c.620C>T (p.Ser207Leu)
|
rs370228071
|
0.00002
|
NM_002878.4(RAD51D):c.872G>A (p.Arg291His)
|
rs150134822
|
0.00002
|
NM_003000.3(SDHB):c.130A>G (p.Ile44Val)
|
rs200418115
|
0.00002
|
NM_003000.3(SDHB):c.765+13G>A
|
rs115561881
|
0.00002
|
NM_003001.5(SDHC):c.180-47G>A
|
rs762913083
|
0.00002
|
NM_003001.5(SDHC):c.31C>T (p.Arg11Cys)
|
rs759914119
|
0.00002
|
NM_003001.5(SDHC):c.43C>T (p.Arg15Ter)
|
rs201286421
|
0.00002
|
NM_003002.4(SDHD):c.435C>T (p.His145=)
|
rs200062830
|
0.00002
|
NM_004069.6(AP2S1):c.328-30C>T
|
rs541382293
|
0.00002
|
NM_004329.3(BMPR1A):c.12A>G (p.Leu4=)
|
rs772729006
|
0.00002
|
NM_004329.3(BMPR1A):c.1343-45G>T
|
rs781280256
|
0.00002
|
NM_004360.5(CDH1):c.1004G>A (p.Arg335Gln)
|
rs373364873
|
0.00002
|
NM_004360.5(CDH1):c.2098C>A (p.Pro700Thr)
|
rs878854681
|
0.00002
|
NM_004360.5(CDH1):c.2103C>T (p.Val701=)
|
rs730881656
|
0.00002
|
NM_004360.5(CDH1):c.2202A>T (p.Arg734Ser)
|
rs745717070
|
0.00002
|
NM_004360.5(CDH1):c.2355C>T (p.Asn785=)
|
rs375988871
|
0.00002
|
NM_004360.5(CDH1):c.2359G>A (p.Val787Ile)
|
rs766270336
|
0.00002
|
NM_004360.5(CDH1):c.2590G>A (p.Glu864Lys)
|
rs142927667
|
0.00002
|
NM_004360.5(CDH1):c.2595G>C (p.Trp865Cys)
|
rs778019174
|
0.00002
|
NM_004360.5(CDH1):c.388-8C>T
|
rs774601444
|
0.00002
|
NM_004360.5(CDH1):c.833-34T>C
|
rs574599168
|
0.00002
|
NM_004655.4(AXIN2):c.1059+22G>A
|
rs777775745
|
0.00002
|
NM_004655.4(AXIN2):c.1557C>G (p.Ile519Met)
|
rs374444786
|
0.00002
|
NM_004655.4(AXIN2):c.1744A>C (p.Asn582His)
|
rs567511335
|
0.00002
|
NM_004655.4(AXIN2):c.1976G>A (p.Arg659Gln)
|
rs730881400
|
0.00002
|
NM_004655.4(AXIN2):c.2447C>T (p.Ala816Val)
|
rs755508971
|
0.00002
|
NM_004655.4(AXIN2):c.845C>T (p.Pro282Leu)
|
rs772279739
|
0.00002
|
NM_004656.4(BAP1):c.210C>T (p.Ser70=)
|
rs558581070
|
0.00002
|
NM_004656.4(BAP1):c.597C>T (p.Asp199=)
|
rs747458975
|
0.00002
|
NM_004656.4(BAP1):c.648C>T (p.Leu216=)
|
rs758650064
|
0.00002
|
NM_005359.6(SMAD4):c.647A>G (p.Asn216Ser)
|
rs138386557
|
0.00002
|
NM_006231.4(POLE):c.-8A>G
|
rs1057521786
|
0.00002
|
NM_006231.4(POLE):c.1055A>C (p.Gln352Pro)
|
rs766094330
|
0.00002
|
NM_006231.4(POLE):c.1089C>T (p.Asn363=)
|
rs146639652
|
0.00002
|
NM_006231.4(POLE):c.1277C>T (p.Ala426Val)
|
rs374920539
|
0.00002
|
NM_006231.4(POLE):c.1533C>T (p.His511=)
|
rs545378475
|
0.00002
|
NM_006231.4(POLE):c.1717C>T (p.Arg573Trp)
|
rs373000452
|
0.00002
|
NM_006231.4(POLE):c.2209A>G (p.Thr737Ala)
|
rs779102091
|
0.00002
|
NM_006231.4(POLE):c.2343G>A (p.Ala781=)
|
rs199751241
|
0.00002
|
NM_006231.4(POLE):c.2748G>A (p.Pro916=)
|
rs756542563
|
0.00002
|
NM_006231.4(POLE):c.2865-8T>C
|
rs768655308
|
0.00002
|
NM_006231.4(POLE):c.318T>C (p.Ile106=)
|
rs770759936
|
0.00002
|
NM_006231.4(POLE):c.3913G>A (p.Gly1305Arg)
|
rs563990655
|
0.00002
|
NM_006231.4(POLE):c.4026C>T (p.Ala1342=)
|
rs764030317
|
0.00002
|
NM_006231.4(POLE):c.4270G>A (p.Glu1424Lys)
|
rs575419120
|
0.00002
|
NM_006231.4(POLE):c.4900C>T (p.Arg1634Cys)
|
rs769762523
|
0.00002
|
NM_006231.4(POLE):c.5468G>A (p.Arg1823His)
|
rs767747669
|
0.00002
|
NM_006231.4(POLE):c.552C>T (p.Ser184=)
|
rs878854884
|
0.00002
|
NM_006231.4(POLE):c.553G>A (p.Asp185Asn)
|
rs369506007
|
0.00002
|
NM_006231.4(POLE):c.626A>G (p.Lys209Arg)
|
rs754559038
|
0.00002
|
NM_006231.4(POLE):c.6328A>G (p.Lys2110Glu)
|
rs746736600
|
0.00002
|
NM_006231.4(POLE):c.6417C>T (p.Ser2139=)
|
rs766935890
|
0.00002
|
NM_006231.4(POLE):c.6434G>A (p.Arg2145Gln)
|
rs770009143
|
0.00002
|
NM_006231.4(POLE):c.6531+19G>A
|
rs1209524249
|
0.00002
|
NM_006231.4(POLE):c.6531+46C>T
|
rs1330290276
|
0.00002
|
NM_006231.4(POLE):c.6605C>T (p.Thr2202Met)
|
rs764457707
|
0.00002
|
NM_006231.4(POLE):c.6658-18G>A
|
rs575414442
|
0.00002
|
NM_006231.4(POLE):c.6803C>T (p.Ser2268Leu)
|
rs373791036
|
0.00002
|
NM_006231.4(POLE):c.850A>G (p.Lys284Glu)
|
rs568483856
|
0.00002
|
NM_006231.4(POLE):c.910-5G>A
|
rs750101293
|
0.00002
|
NM_006767.4(LZTR1):c.353G>A (p.Arg118His)
|
rs769001939
|
0.00002
|
NM_006947.4(SRP72):c.1460T>C (p.Leu487Pro)
|
rs1328792939
|
0.00002
|
NM_007194.4(CHEK2):c.1091T>C (p.Ile364Thr)
|
rs774179198
|
0.00002
|
NM_007194.4(CHEK2):c.1383C>G (p.Asp461Glu)
|
rs1060502702
|
0.00002
|
NM_007194.4(CHEK2):c.176C>A (p.Thr59Lys)
|
rs149991239
|
0.00002
|
NM_007194.4(CHEK2):c.480A>G (p.Ile160Met)
|
rs575910805
|
0.00002
|
NM_007194.4(CHEK2):c.600C>G (p.Val200=)
|
rs141685349
|
0.00002
|
NM_007194.4(CHEK2):c.931G>A (p.Asp311Asn)
|
rs587782347
|
0.00002
|
NM_007294.4(BRCA1):c.2217A>G (p.Lys739=)
|
rs200521980
|
0.00002
|
NM_007294.4(BRCA1):c.2808T>G (p.Asp936Glu)
|
rs730881485
|
0.00002
|
NM_007294.4(BRCA1):c.3130A>G (p.Ile1044Val)
|
rs80357271
|
0.00002
|
NM_007294.4(BRCA1):c.3657G>C (p.Glu1219Asp)
|
rs80356876
|
0.00002
|
NM_007294.4(BRCA1):c.4097-11T>C
|
rs80358072
|
0.00002
|
NM_007294.4(BRCA1):c.4245A>G (p.Glu1415=)
|
rs41293453
|
0.00002
|
NM_007294.4(BRCA1):c.5068A>C (p.Lys1690Gln)
|
rs397507239
|
0.00002
|
NM_007294.4(BRCA1):c.5074+6C>G
|
rs80358032
|
0.00002
|
NM_007294.4(BRCA1):c.509G>A (p.Arg170Gln)
|
rs80357264
|
0.00002
|
NM_007294.4(BRCA1):c.5175A>G (p.Glu1725=)
|
rs191373374
|
0.00002
|
NM_007294.4(BRCA1):c.5334T>C (p.Asp1778=)
|
rs754152768
|
0.00002
|
NM_007294.4(BRCA1):c.594-15G>C
|
rs80358102
|
0.00002
|
NM_015450.3(POT1):c.1183G>A (p.Gly395Ser)
|
rs757373061
|
0.00002
|
NM_015450.3(POT1):c.869+12G>A
|
rs762326478
|
0.00002
|
NM_016169.4(SUFU):c.684-17C>G
|
rs1454924481
|
0.00002
|
NM_017763.6(RNF43):c.1605G>A (p.Ser535=)
|
rs767179579
|
0.00002
|
NM_017763.6(RNF43):c.1801T>A (p.Ser601Thr)
|
rs751001722
|
0.00002
|
NM_017763.6(RNF43):c.340C>T (p.Arg114Trp)
|
rs768842372
|
0.00002
|
NM_017763.6(RNF43):c.849+46T>C
|
rs199830498
|
0.00002
|
NM_017841.4(SDHAF2):c.98G>A (p.Arg33His)
|
rs777442412
|
0.00002
|
NM_020975.6(RET):c.1264-4C>T
|
rs587780806
|
0.00002
|
NM_020975.6(RET):c.2358T>C (p.His786=)
|
rs758715544
|
0.00002
|
NM_020975.6(RET):c.723C>T (p.Ala241=)
|
rs544252468
|
0.00002
|
NM_021871.4(FGA):c.1653del (p.Gly552fs)
|
rs773619297
|
0.00002
|
NM_024675.4(PALB2):c.1379A>G (p.Gln460Arg)
|
rs749494645
|
0.00002
|
NM_024675.4(PALB2):c.1743A>G (p.Leu581=)
|
rs180177105
|
0.00002
|
NM_024675.4(PALB2):c.1767G>A (p.Thr589=)
|
rs769849072
|
0.00002
|
NM_024675.4(PALB2):c.2167_2168del (p.Met723fs)
|
rs587776416
|
0.00002
|
NM_024675.4(PALB2):c.2228A>G (p.Tyr743Cys)
|
rs141749524
|
0.00002
|
NM_024675.4(PALB2):c.2417C>T (p.Pro806Leu)
|
rs45464991
|
0.00002
|
NM_024675.4(PALB2):c.2564T>C (p.Leu855Pro)
|
rs774497779
|
0.00002
|
NM_024675.4(PALB2):c.2755G>A (p.Val919Ile)
|
rs775193384
|
0.00002
|
NM_024675.4(PALB2):c.2903C>G (p.Ala968Gly)
|
rs369132015
|
0.00002
|
NM_024675.4(PALB2):c.2978C>T (p.Thr993Met)
|
rs61756146
|
0.00002
|
NM_024675.4(PALB2):c.3256C>T (p.Arg1086Ter)
|
rs587776527
|
0.00002
|
NM_024675.4(PALB2):c.3432C>T (p.Leu1144=)
|
rs748363227
|
0.00002
|
NM_030773.4(TUBB1):c.436G>A (p.Gly146Arg)
|
rs371852125
|
0.00002
|
NM_032043.3(BRIP1):c.1433A>G (p.His478Arg)
|
rs45501097
|
0.00002
|
NM_032043.3(BRIP1):c.1899C>G (p.Ile633Met)
|
rs28997572
|
0.00002
|
NM_032043.3(BRIP1):c.2575+7T>A
|
rs750874535
|
0.00002
|
NM_032043.3(BRIP1):c.2606A>G (p.Gln869Arg)
|
rs1060501733
|
0.00002
|
NM_032043.3(BRIP1):c.2804T>G (p.Val935Gly)
|
rs4988356
|
0.00002
|
NM_032043.3(BRIP1):c.3298G>A (p.Asp1100Asn)
|
rs587781923
|
0.00002
|
NM_032043.3(BRIP1):c.507+20A>C
|
rs369270945
|
0.00002
|
NM_032043.3(BRIP1):c.778A>G (p.Thr260Ala)
|
rs138743097
|
0.00002
|
NM_058216.3(RAD51C):c.1026+43C>T
|
rs750859385
|
0.00002
|
NM_058216.3(RAD51C):c.706-2A>G
|
rs587780259
|
0.00002
|
NM_144997.7(FLCN):c.1049G>A (p.Arg350Gln)
|
rs190786280
|
0.00002
|
NM_144997.7(FLCN):c.1084C>T (p.Arg362Cys)
|
rs557336321
|
0.00002
|
NM_144997.7(FLCN):c.1101C>T (p.His367=)
|
rs1451481907
|
0.00002
|
NM_144997.7(FLCN):c.1174C>T (p.Arg392Trp)
|
rs1060502374
|
0.00002
|
NM_144997.7(FLCN):c.703G>A (p.Gly235Ser)
|
rs200693409
|
0.00002
|
NM_172351.3(CD46):c.565T>G (p.Tyr189Asp)
|
rs202071781
|
0.00002
|
NM_177438.3(DICER1):c.1449C>T (p.Gly483=)
|
rs569346627
|
0.00002
|
NM_177438.3(DICER1):c.1767G>A (p.Lys589=)
|
rs967583633
|
0.00002
|
NM_177438.3(DICER1):c.2651-17C>T
|
rs992475406
|
0.00002
|
NM_177438.3(DICER1):c.278G>A (p.Gly93Glu)
|
rs776219930
|
0.00002
|
NM_177438.3(DICER1):c.2805-39C>A
|
rs1484367262
|
0.00002
|
NM_177438.3(DICER1):c.3099G>T (p.Leu1033=)
|
rs768709390
|
0.00002
|
NM_177438.3(DICER1):c.3676G>A (p.Glu1226Lys)
|
rs748087536
|
0.00002
|
NM_177438.3(DICER1):c.4401C>T (p.Ile1467=)
|
rs530896743
|
0.00002
|
NM_177438.3(DICER1):c.5516G>A (p.Arg1839Gln)
|
rs587778233
|
0.00002
|
NM_177438.3(DICER1):c.5527+30A>T
|
rs766703776
|
0.00002
|
NM_177438.3(DICER1):c.5625C>T (p.Asp1875=)
|
rs781156066
|
0.00002
|
NM_198253.3(TERT):c.45C>T (p.Arg15=)
|
rs750133706
|
0.00002
|
NC_000005.10:g.112707408C>G
|
rs989021062
|
0.00001
|
NC_000005.10:g.112707449G>A
|
rs1031191403
|
0.00001
|
NM_000038.6(APC):c.1192A>C (p.Lys398Gln)
|
rs765196085
|
0.00001
|
NM_000038.6(APC):c.1408+50T>A
|
rs773914353
|
0.00001
|
NM_000038.6(APC):c.1549-20A>G
|
rs993325922
|
0.00001
|
NM_000038.6(APC):c.1571G>A (p.Gly524Asp)
|
rs587782868
|
0.00001
|
NM_000038.6(APC):c.1744-14C>A
|
rs761403505
|
0.00001
|
NM_000038.6(APC):c.1863T>C (p.Thr621=)
|
rs72541808
|
0.00001
|
NM_000038.6(APC):c.1965C>T (p.Ile655=)
|
rs765309567
|
0.00001
|
NM_000038.6(APC):c.212G>A (p.Arg71His)
|
rs750503329
|
0.00001
|
NM_000038.6(APC):c.2666A>G (p.Lys889Arg)
|
rs1350986347
|
0.00001
|
NM_000038.6(APC):c.2668G>A (p.Val890Ile)
|
rs779998847
|
0.00001
|
NM_000038.6(APC):c.2763A>G (p.Ala921=)
|
rs750259615
|
0.00001
|
NM_000038.6(APC):c.2785C>T (p.His929Tyr)
|
rs1183098771
|
0.00001
|
NM_000038.6(APC):c.281G>A (p.Arg94His)
|
rs774229223
|
0.00001
|
NM_000038.6(APC):c.3161A>C (p.His1054Pro)
|
rs777538550
|
0.00001
|
NM_000038.6(APC):c.3313C>T (p.Arg1105Trp)
|
rs768454793
|
0.00001
|
NM_000038.6(APC):c.3323A>G (p.Asn1108Ser)
|
rs151286353
|
0.00001
|
NM_000038.6(APC):c.3378C>G (p.Ser1126Arg)
|
rs149353082
|
0.00001
|
NM_000038.6(APC):c.3959T>A (p.Val1320Glu)
|
rs760485028
|
0.00001
|
NM_000038.6(APC):c.4100A>G (p.Gln1367Arg)
|
rs1399790840
|
0.00001
|
NM_000038.6(APC):c.4364A>G (p.Asn1455Ser)
|
rs751262428
|
0.00001
|
NM_000038.6(APC):c.4450G>C (p.Asp1484His)
|
rs1165759330
|
0.00001
|
NM_000038.6(APC):c.4766G>A (p.Arg1589His)
|
rs374048423
|
0.00001
|
NM_000038.6(APC):c.4857A>G (p.Pro1619=)
|
rs564651232
|
0.00001
|
NM_000038.6(APC):c.5105G>A (p.Gly1702Glu)
|
rs769273526
|
0.00001
|
NM_000038.6(APC):c.5224C>T (p.Arg1742Cys)
|
rs876658835
|
0.00001
|
NM_000038.6(APC):c.5264C>T (p.Ala1755Val)
|
rs771967537
|
0.00001
|
NM_000038.6(APC):c.5451A>G (p.Lys1817=)
|
rs1004701019
|
0.00001
|
NM_000038.6(APC):c.5712A>G (p.Gln1904=)
|
rs755851369
|
0.00001
|
NM_000038.6(APC):c.5805G>A (p.Gln1935=)
|
rs377040690
|
0.00001
|
NM_000038.6(APC):c.5959A>G (p.Ile1987Val)
|
rs1269798265
|
0.00001
|
NM_000038.6(APC):c.6446A>C (p.His2149Pro)
|
rs749230730
|
0.00001
|
NM_000038.6(APC):c.6601G>A (p.Gly2201Arg)
|
rs753573633
|
0.00001
|
NM_000038.6(APC):c.6610C>G (p.Arg2204Gly)
|
rs752654519
|
0.00001
|
NM_000038.6(APC):c.6674C>G (p.Ser2225Cys)
|
rs759307079
|
0.00001
|
NM_000038.6(APC):c.672C>T (p.Ile224=)
|
rs367816013
|
0.00001
|
NM_000038.6(APC):c.6754C>G (p.Pro2252Ala)
|
rs587778035
|
0.00001
|
NM_000038.6(APC):c.6948A>G (p.Pro2316=)
|
rs202144406
|
0.00001
|
NM_000038.6(APC):c.715G>A (p.Ala239Thr)
|
rs777760565
|
0.00001
|
NM_000038.6(APC):c.7194C>T (p.Ser2398=)
|
rs565688379
|
0.00001
|
NM_000038.6(APC):c.7389A>C (p.Glu2463Asp)
|
rs587782127
|
0.00001
|
NM_000038.6(APC):c.7478T>C (p.Leu2493Pro)
|
rs769889352
|
0.00001
|
NM_000038.6(APC):c.7533C>T (p.Leu2511=)
|
rs1057522957
|
0.00001
|
NM_000038.6(APC):c.7573C>T (p.Arg2525Cys)
|
rs774952444
|
0.00001
|
NM_000038.6(APC):c.7588C>T (p.Arg2530Trp)
|
rs730881265
|
0.00001
|
NM_000038.6(APC):c.764A>G (p.His255Arg)
|
rs530670052
|
0.00001
|
NM_000038.6(APC):c.7750G>A (p.Ala2584Thr)
|
rs763786323
|
0.00001
|
NM_000038.6(APC):c.7766A>G (p.Glu2589Gly)
|
rs200406572
|
0.00001
|
NM_000038.6(APC):c.7914T>A (p.Ala2638=)
|
rs758440266
|
0.00001
|
NM_000038.6(APC):c.8203G>A (p.Gly2735Arg)
|
rs376392084
|
0.00001
|
NM_000038.6(APC):c.8447G>A (p.Arg2816Gln)
|
rs769704991
|
0.00001
|
NM_000038.6(APC):c.918T>G (p.Ser306Arg)
|
rs730881231
|
0.00001
|
NM_000038.6(APC):c.933+5C>A
|
rs573528468
|
0.00001
|
NM_000051.4(ATM):c.1021G>A (p.Val341Ile)
|
rs200601781
|
0.00001
|
NM_000051.4(ATM):c.1236-8T>C
|
rs756160331
|
0.00001
|
NM_000051.4(ATM):c.1444A>C (p.Lys482Gln)
|
rs202173660
|
0.00001
|
NM_000051.4(ATM):c.1709T>C (p.Phe570Ser)
|
rs777301065
|
0.00001
|
NM_000051.4(ATM):c.1814A>G (p.His605Arg)
|
rs771877351
|
0.00001
|
NM_000051.4(ATM):c.1960C>A (p.Gln654Lys)
|
rs528165789
|
0.00001
|
NM_000051.4(ATM):c.1977G>T (p.Lys659Asn)
|
rs1060501565
|
0.00001
|
NM_000051.4(ATM):c.2012T>A (p.Ile671Lys)
|
rs750897021
|
0.00001
|
NM_000051.4(ATM):c.2019G>A (p.Lys673=)
|
rs786203021
|
0.00001
|
NM_000051.4(ATM):c.2062G>A (p.Glu688Lys)
|
rs769338089
|
0.00001
|
NM_000051.4(ATM):c.2564T>C (p.Met855Thr)
|
rs587779824
|
0.00001
|
NM_000051.4(ATM):c.2630G>C (p.Ser877Thr)
|
rs370269552
|
0.00001
|
NM_000051.4(ATM):c.2800A>G (p.Ser934Gly)
|
rs772054979
|
0.00001
|
NM_000051.4(ATM):c.280A>G (p.Met94Val)
|
rs864622758
|
0.00001
|
NM_000051.4(ATM):c.2867G>A (p.Gly956Glu)
|
rs752099312
|
0.00001
|
NM_000051.4(ATM):c.3108C>T (p.Phe1036=)
|
rs867514913
|
0.00001
|
NM_000051.4(ATM):c.3155C>T (p.Ala1052Val)
|
rs876660350
|
0.00001
|
NM_000051.4(ATM):c.332-1G>A
|
rs747855862
|
0.00001
|
NM_000051.4(ATM):c.3332T>C (p.Leu1111Pro)
|
rs876658363
|
0.00001
|
NM_000051.4(ATM):c.3402+9A>G
|
rs761919506
|
0.00001
|
NM_000051.4(ATM):c.3504C>T (p.Cys1168=)
|
rs876658368
|
0.00001
|
NM_000051.4(ATM):c.3576G>A (p.Lys1192=)
|
rs587776551
|
0.00001
|
NM_000051.4(ATM):c.3613C>T (p.Arg1205Cys)
|
rs760928285
|
0.00001
|
NM_000051.4(ATM):c.3994-50C>T
|
rs753142634
|
0.00001
|
NM_000051.4(ATM):c.4109+11T>C
|
rs749158400
|
0.00001
|
NM_000051.4(ATM):c.4135C>T (p.Pro1379Ser)
|
rs1555096828
|
0.00001
|
NM_000051.4(ATM):c.4236+12T>C
|
rs369996463
|
0.00001
|
NM_000051.4(ATM):c.4237-8T>C
|
rs750427647
|
0.00001
|
NM_000051.4(ATM):c.4612-4T>G
|
rs569983068
|
0.00001
|
NM_000051.4(ATM):c.4640T>C (p.Ile1547Thr)
|
rs1555100432
|
0.00001
|
NM_000051.4(ATM):c.4853G>A (p.Arg1618Gln)
|
rs765759912
|
0.00001
|
NM_000051.4(ATM):c.48A>G (p.Glu16=)
|
rs774768437
|
0.00001
|
NM_000051.4(ATM):c.5319+6_5319+7del
|
rs777478613
|
0.00001
|
NM_000051.4(ATM):c.5417T>C (p.Ile1806Thr)
|
rs773546064
|
0.00001
|
NM_000051.4(ATM):c.5645G>A (p.Arg1882Gln)
|
rs587782236
|
0.00001
|
NM_000051.4(ATM):c.5674+6C>G
|
rs780204400
|
0.00001
|
NM_000051.4(ATM):c.5693G>A (p.Arg1898Gln)
|
rs370680798
|
0.00001
|
NM_000051.4(ATM):c.5798G>A (p.Trp1933Ter)
|
rs876658740
|
0.00001
|
NM_000051.4(ATM):c.5934A>C (p.Glu1978Asp)
|
rs945198632
|
0.00001
|
NM_000051.4(ATM):c.6006+8T>C
|
rs56019194
|
0.00001
|
NM_000051.4(ATM):c.6681C>T (p.Arg2227=)
|
rs775850434
|
0.00001
|
NM_000051.4(ATM):c.680C>T (p.Ser227Leu)
|
rs762998620
|
0.00001
|
NM_000051.4(ATM):c.6974C>T (p.Ala2325Val)
|
rs200940211
|
0.00001
|
NM_000051.4(ATM):c.6997dup
|
rs587781299
|
0.00001
|
NM_000051.4(ATM):c.7089+20C>T
|
rs730881275
|
0.00001
|
NM_000051.4(ATM):c.7383C>T (p.Arg2461=)
|
rs1429991894
|
0.00001
|
NM_000051.4(ATM):c.7502A>G (p.Asn2501Ser)
|
rs531617441
|
0.00001
|
NM_000051.4(ATM):c.7542T>C (p.Tyr2514=)
|
rs777925486
|
0.00001
|
NM_000051.4(ATM):c.7620C>A (p.Val2540=)
|
rs863224298
|
0.00001
|
NM_000051.4(ATM):c.7793G>A (p.Arg2598Gln)
|
rs140263969
|
0.00001
|
NM_000051.4(ATM):c.79G>A (p.Val27Ile)
|
rs754770960
|
0.00001
|
NM_000051.4(ATM):c.8155C>T (p.Arg2719Cys)
|
rs138526014
|
0.00001
|
NM_000051.4(ATM):c.8327T>C (p.Ile2776Thr)
|
rs746475628
|
0.00001
|
NM_000051.4(ATM):c.8355T>C (p.Asp2785=)
|
rs372834825
|
0.00001
|
NM_000051.4(ATM):c.8393C>A (p.Ala2798Asp)
|
rs772992098
|
0.00001
|
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys)
|
rs587779872
|
0.00001
|
NM_000051.4(ATM):c.8532T>C (p.Ile2844=)
|
rs730881278
|
0.00001
|
NM_000051.4(ATM):c.8672G>A (p.Gly2891Asp)
|
rs748192003
|
0.00001
|
NM_000051.4(ATM):c.8730C>G (p.Leu2910=)
|
rs551041839
|
0.00001
|
NM_000051.4(ATM):c.8741T>C (p.Ile2914Thr)
|
rs780303327
|
0.00001
|
NM_000051.4(ATM):c.8850+17G>A
|
rs1027667991
|
0.00001
|
NM_000051.4(ATM):c.8850+4A>C
|
rs587782335
|
0.00001
|
NM_000051.4(ATM):c.8851-48G>A
|
rs778014061
|
0.00001
|
NM_000051.4(ATM):c.943_944del (p.Leu315fs)
|
rs768024233
|
0.00001
|
NM_000051.4(ATM):c.94C>T (p.Arg32Cys)
|
rs148061139
|
0.00001
|
NM_000059.4(BRCA2):c.10054C>G (p.Leu3352Val)
|
rs1475702169
|
0.00001
|
NM_000059.4(BRCA2):c.10076A>G (p.Glu3359Gly)
|
rs80358389
|
0.00001
|
NM_000059.4(BRCA2):c.116C>T (p.Ala39Val)
|
rs398122724
|
0.00001
|
NM_000059.4(BRCA2):c.1466C>G (p.Ser489Cys)
|
rs587782535
|
0.00001
|
NM_000059.4(BRCA2):c.1550A>G (p.Asn517Ser)
|
rs80358439
|
0.00001
|
NM_000059.4(BRCA2):c.2082T>C (p.Asn694=)
|
rs777141329
|
0.00001
|
NM_000059.4(BRCA2):c.2122T>A (p.Ser708Thr)
|
rs80358488
|
0.00001
|
NM_000059.4(BRCA2):c.2133C>T (p.Cys711=)
|
rs535547513
|
0.00001
|
NM_000059.4(BRCA2):c.2416G>C (p.Asp806His)
|
rs56404215
|
0.00001
|
NM_000059.4(BRCA2):c.2491G>A (p.Val831Ile)
|
rs397507287
|
0.00001
|
NM_000059.4(BRCA2):c.2771A>T (p.Asn924Ile)
|
rs80358530
|
0.00001
|
NM_000059.4(BRCA2):c.2830A>T (p.Lys944Ter)
|
rs80358533
|
0.00001
|
NM_000059.4(BRCA2):c.2924T>A (p.Ile975Asn)
|
rs398122756
|
0.00001
|
NM_000059.4(BRCA2):c.301T>C (p.Phe101Leu)
|
rs2072290175
|
0.00001
|
NM_000059.4(BRCA2):c.3101T>C (p.Ile1034Thr)
|
rs545974734
|
0.00001
|
NM_000059.4(BRCA2):c.3302A>G (p.His1101Arg)
|
rs398122761
|
0.00001
|
NM_000059.4(BRCA2):c.3517A>T (p.Ile1173Phe)
|
rs431825308
|
0.00001
|
NM_000059.4(BRCA2):c.3628G>A (p.Asp1210Asn)
|
rs774392592
|
0.00001
|
NM_000059.4(BRCA2):c.3893T>C (p.Ile1298Thr)
|
rs80358633
|
0.00001
|
NM_000059.4(BRCA2):c.4258del (p.Asp1420fs)
|
rs80359436
|
0.00001
|
NM_000059.4(BRCA2):c.441A>G (p.Gln147=)
|
rs80358676
|
0.00001
|
NM_000059.4(BRCA2):c.4725C>T (p.Asp1575=)
|
rs752402938
|
0.00001
|
NM_000059.4(BRCA2):c.4830G>A (p.Val1610=)
|
rs80359789
|
0.00001
|
NM_000059.4(BRCA2):c.5081G>C (p.Arg1694Thr)
|
rs753721331
|
0.00001
|
NM_000059.4(BRCA2):c.517-11T>C
|
rs81002828
|
0.00001
|
NM_000059.4(BRCA2):c.518G>T (p.Gly173Val)
|
rs28897702
|
0.00001
|
NM_000059.4(BRCA2):c.5225A>T (p.Asn1742Ile)
|
rs756463217
|
0.00001
|
NM_000059.4(BRCA2):c.5278T>G (p.Ser1760Ala)
|
rs28897735
|
0.00001
|
NM_000059.4(BRCA2):c.5427C>T (p.Cys1809=)
|
rs80359791
|
0.00001
|
NM_000059.4(BRCA2):c.5529A>C (p.Ala1843=)
|
rs372951842
|
0.00001
|
NM_000059.4(BRCA2):c.5663A>G (p.Lys1888Arg)
|
rs80358791
|
0.00001
|
NM_000059.4(BRCA2):c.5870T>C (p.Ile1957Thr)
|
rs587782320
|
0.00001
|
NM_000059.4(BRCA2):c.6231G>C (p.Lys2077Asn)
|
rs541826447
|
0.00001
|
NM_000059.4(BRCA2):c.6287C>G (p.Pro2096Arg)
|
rs587781396
|
0.00001
|
NM_000059.4(BRCA2):c.6399_6401del (p.Asn2135del)
|
rs80359581
|
0.00001
|
NM_000059.4(BRCA2):c.6437A>G (p.Asn2146Ser)
|
rs768512381
|
0.00001
|
NM_000059.4(BRCA2):c.6443C>A (p.Ser2148Tyr)
|
rs80358880
|
0.00001
|
NM_000059.4(BRCA2):c.6458C>T (p.Pro2153Leu)
|
rs276174873
|
0.00001
|
NM_000059.4(BRCA2):c.6485A>G (p.Lys2162Arg)
|
rs11571660
|
0.00001
|
NM_000059.4(BRCA2):c.6734T>A (p.Leu2245Gln)
|
rs772795886
|
0.00001
|
NM_000059.4(BRCA2):c.6772G>A (p.Glu2258Lys)
|
rs730881549
|
0.00001
|
NM_000059.4(BRCA2):c.68-17A>G
|
rs1060504621
|
0.00001
|
NM_000059.4(BRCA2):c.682-13A>G
|
rs81002888
|
0.00001
|
NM_000059.4(BRCA2):c.6841+33A>G
|
rs775099979
|
0.00001
|
NM_000059.4(BRCA2):c.6943A>C (p.Ile2315Leu)
|
rs80358918
|
0.00001
|
NM_000059.4(BRCA2):c.7007+24A>G
|
rs200506766
|
0.00001
|
NM_000059.4(BRCA2):c.7008-44A>G
|
rs760633856
|
0.00001
|
NM_000059.4(BRCA2):c.7055C>T (p.Pro2352Leu)
|
rs80358934
|
0.00001
|
NM_000059.4(BRCA2):c.7232A>C (p.Lys2411Thr)
|
rs80358950
|
0.00001
|
NM_000059.4(BRCA2):c.7436-4A>G
|
rs81002904
|
0.00001
|
NM_000059.4(BRCA2):c.7438T>G (p.Leu2480Val)
|
rs80358965
|
0.00001
|
NM_000059.4(BRCA2):c.7521A>G (p.Pro2507=)
|
rs759383358
|
0.00001
|
NM_000059.4(BRCA2):c.7558C>T (p.Arg2520Ter)
|
rs80358981
|
0.00001
|
NM_000059.4(BRCA2):c.7759C>T (p.Leu2587Phe)
|
rs56335340
|
0.00001
|
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys)
|
rs80359013
|
0.00001
|
NM_000059.4(BRCA2):c.7976+36G>A
|
rs372549503
|
0.00001
|
NM_000059.4(BRCA2):c.7992T>A (p.Ile2664=)
|
rs80359800
|
0.00001
|
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu)
|
rs80359035
|
0.00001
|
NM_000059.4(BRCA2):c.8117A>G (p.Asn2706Ser)
|
rs80359055
|
0.00001
|
NM_000059.4(BRCA2):c.8351G>A (p.Arg2784Gln)
|
rs80359076
|
0.00001
|
NM_000059.4(BRCA2):c.8452G>A (p.Val2818Ile)
|
rs80359094
|
0.00001
|
NM_000059.4(BRCA2):c.8575del (p.Gln2859fs)
|
rs80359718
|
0.00001
|
NM_000059.4(BRCA2):c.8599A>C (p.Thr2867Pro)
|
rs80359119
|
0.00001
|
NM_000059.4(BRCA2):c.8915T>G (p.Leu2972Trp)
|
rs80359142
|
0.00001
|
NM_000059.4(BRCA2):c.8953+34T>C
|
rs201726150
|
0.00001
|
NM_000059.4(BRCA2):c.8954-17C>T
|
rs1223711283
|
0.00001
|
NM_000059.4(BRCA2):c.909T>G (p.Ser303=)
|
rs757430441
|
0.00001
|
NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=)
|
rs28897756
|
0.00001
|
NM_000059.4(BRCA2):c.9187C>T (p.Pro3063Ser)
|
rs80359176
|
0.00001
|
NM_000059.4(BRCA2):c.9205T>C (p.Cys3069Arg)
|
rs398122611
|
0.00001
|
NM_000059.4(BRCA2):c.9242T>C (p.Val3081Ala)
|
rs80359189
|
0.00001
|
NM_000059.4(BRCA2):c.927A>G (p.Ser309=)
|
rs80359806
|
0.00001
|
NM_000059.4(BRCA2):c.9338T>C (p.Ile3113Thr)
|
rs770003991
|
0.00001
|
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile)
|
rs28897759
|
0.00001
|
NM_000059.4(BRCA2):c.9396A>G (p.Lys3132=)
|
rs201172050
|
0.00001
|
NM_000059.4(BRCA2):c.9509A>G (p.Asp3170Gly)
|
rs80359224
|
0.00001
|
NM_000059.4(BRCA2):c.971G>C (p.Arg324Thr)
|
rs397507435
|
0.00001
|
NM_000059.4(BRCA2):c.9735A>G (p.Ser3245=)
|
rs773112850
|
0.00001
|
NM_000059.4(BRCA2):c.987G>A (p.Arg329=)
|
rs561002197
|
0.00001
|
NM_000059.4(BRCA2):c.9905G>A (p.Arg3302Lys)
|
rs80359249
|
0.00001
|
NM_000059.4(BRCA2):c.9945A>G (p.Lys3315=)
|
rs752308575
|
0.00001
|
NM_000075.4(CDK4):c.-2G>A
|
rs771607042
|
0.00001
|
NM_000075.4(CDK4):c.141A>C (p.Gly47=)
|
rs863224320
|
0.00001
|
NM_000075.4(CDK4):c.245G>A (p.Arg82Gln)
|
rs3211612
|
0.00001
|
NM_000075.4(CDK4):c.24A>C (p.Pro8=)
|
rs756789126
|
0.00001
|
NM_000075.4(CDK4):c.365G>A (p.Arg122His)
|
rs34386532
|
0.00001
|
NM_000075.4(CDK4):c.523-4T>A
|
rs587780667
|
0.00001
|
NM_000075.4(CDK4):c.553G>A (p.Val185Ile)
|
rs757302656
|
0.00001
|
NM_000077.5(CDKN2A):c.103G>A (p.Gly35Arg)
|
rs757066045
|
0.00001
|
NM_000077.5(CDKN2A):c.151-4G>C
|
rs529380972
|
0.00001
|
NM_000077.5(CDKN2A):c.224C>T (p.Pro75Leu)
|
rs772411700
|
0.00001
|
NM_000077.5(CDKN2A):c.2T>A (p.Met1Lys)
|
rs759871071
|
0.00001
|
NM_000135.4(FANCA):c.3109C>A (p.Pro1037Thr)
|
rs771174892
|
0.00001
|
NM_000143.4(FH):c.*36A>G
|
rs778697601
|
0.00001
|
NM_000143.4(FH):c.1003C>T (p.Leu335=)
|
rs1203364199
|
0.00001
|
NM_000143.4(FH):c.1048C>T (p.Arg350Trp)
|
rs755436052
|
0.00001
|
NM_000143.4(FH):c.104C>T (p.Ser35Leu)
|
rs942065027
|
0.00001
|
NM_000143.4(FH):c.1237-9C>T
|
rs767413280
|
0.00001
|
NM_000143.4(FH):c.151C>T (p.Arg51Trp)
|
rs778678782
|
0.00001
|
NM_000143.4(FH):c.178C>T (p.Leu60=)
|
rs201146499
|
0.00001
|
NM_000143.4(FH):c.468C>A (p.Val156=)
|
rs202061330
|
0.00001
|
NM_000143.4(FH):c.555+17T>C
|
rs201109559
|
0.00001
|
NM_000143.4(FH):c.648T>A (p.Asp216Glu)
|
rs199536615
|
0.00001
|
NM_000143.4(FH):c.655G>A (p.Asp219Asn)
|
rs11545656
|
0.00001
|
NM_000143.4(FH):c.816C>T (p.Leu272=)
|
rs775368701
|
0.00001
|
NM_000143.4(FH):c.959C>T (p.Ala320Val)
|
rs202147731
|
0.00001
|
NM_000179.3(MSH6):c.-12C>G
|
rs766407370
|
0.00001
|
NM_000179.3(MSH6):c.1168G>A (p.Asp390Asn)
|
rs147737737
|
0.00001
|
NM_000179.3(MSH6):c.1275C>A (p.Ile425=)
|
rs786203122
|
0.00001
|
NM_000179.3(MSH6):c.1444C>T (p.Arg482Ter)
|
rs63750909
|
0.00001
|
NM_000179.3(MSH6):c.1445G>A (p.Arg482Gln)
|
rs773226008
|
0.00001
|
NM_000179.3(MSH6):c.1813A>G (p.Thr605Ala)
|
rs780167298
|
0.00001
|
NM_000179.3(MSH6):c.1830G>C (p.Lys610Asn)
|
rs201735525
|
0.00001
|
NM_000179.3(MSH6):c.1984A>G (p.Met662Val)
|
rs1060502935
|
0.00001
|
NM_000179.3(MSH6):c.2074A>C (p.Lys692Gln)
|
rs752532578
|
0.00001
|
NM_000179.3(MSH6):c.2154C>T (p.Ser718=)
|
rs771662801
|
0.00001
|
NM_000179.3(MSH6):c.2223C>T (p.Asn741=)
|
rs769668640
|
0.00001
|
NM_000179.3(MSH6):c.225G>A (p.Gly75=)
|
rs786202321
|
0.00001
|
NM_000179.3(MSH6):c.2515G>C (p.Asp839His)
|
rs1553413868
|
0.00001
|
NM_000179.3(MSH6):c.2550C>T (p.Tyr850=)
|
rs374230313
|
0.00001
|
NM_000179.3(MSH6):c.2694T>C (p.Pro898=)
|
rs769668106
|
0.00001
|
NM_000179.3(MSH6):c.2875C>T (p.Arg959Cys)
|
rs751973865
|
0.00001
|
NM_000179.3(MSH6):c.3113A>G (p.Tyr1038Cys)
|
rs773357672
|
0.00001
|
NM_000179.3(MSH6):c.3334G>A (p.Asp1112Asn)
|
rs773955368
|
0.00001
|
NM_000179.3(MSH6):c.3439G>A (p.Ala1147Thr)
|
rs770054790
|
0.00001
|
NM_000179.3(MSH6):c.3441T>G (p.Ala1147=)
|
rs1389565996
|
0.00001
|
NM_000179.3(MSH6):c.3514dup (p.Arg1172fs)
|
rs63751327
|
0.00001
|
NM_000179.3(MSH6):c.3565A>G (p.Thr1189Ala)
|
rs753778809
|
0.00001
|
NM_000179.3(MSH6):c.3754T>C (p.Leu1252=)
|
rs1415810815
|
0.00001
|
NM_000179.3(MSH6):c.3801+6T>C
|
rs749922503
|
0.00001
|
NM_000179.3(MSH6):c.3879T>C (p.Ala1293=)
|
rs752369374
|
0.00001
|
NM_000179.3(MSH6):c.4002-8A>C
|
rs778957100
|
0.00001
|
NM_000179.3(MSH6):c.627+17A>T
|
rs768348101
|
0.00001
|
NM_000179.3(MSH6):c.892C>T (p.Arg298Ter)
|
rs146816935
|
0.00001
|
NM_000231.3(SGCG):c.385+2T>C
|
rs200206447
|
0.00001
|
NM_000245.4(MET):c.*20C>G
|
rs757592643
|
0.00001
|
NM_000245.4(MET):c.1451A>G (p.His484Arg)
|
rs781545528
|
0.00001
|
NM_000245.4(MET):c.1584A>G (p.Gln528=)
|
rs55755322
|
0.00001
|
NM_000245.4(MET):c.1644G>A (p.Ser548=)
|
rs750584257
|
0.00001
|
NM_000245.4(MET):c.2278A>G (p.Ile760Val)
|
rs786202191
|
0.00001
|
NM_000245.4(MET):c.249G>C (p.Glu83Asp)
|
rs751158831
|
0.00001
|
NM_000245.4(MET):c.2673C>T (p.Ala891=)
|
rs561131509
|
0.00001
|
NM_000245.4(MET):c.3276A>T (p.Val1092=)
|
rs757338659
|
0.00001
|
NM_000245.4(MET):c.3281A>G (p.His1094Arg)
|
rs121913243
|
0.00001
|
NM_000245.4(MET):c.3509G>A (p.Arg1170Gln)
|
rs369838973
|
0.00001
|
NM_000245.4(MET):c.3799-5A>G
|
rs1340355638
|
0.00001
|
NM_000245.4(MET):c.3935+15T>C
|
rs375531399
|
0.00001
|
NM_000245.4(MET):c.3972C>T (p.Ala1324=)
|
rs201519623
|
0.00001
|
NM_000245.4(MET):c.4122C>T (p.Asn1374=)
|
rs370767911
|
0.00001
|
NM_000245.4(MET):c.689C>T (p.Thr230Met)
|
rs587780740
|
0.00001
|
NM_000245.4(MET):c.808G>C (p.Asp270His)
|
rs1060503542
|
0.00001
|
NM_000246.4(CIITA):c.1444G>A (p.Glu482Lys)
|
rs772224355
|
0.00001
|
NM_000249.4(MLH1):c.-11C>T
|
rs776898290
|
0.00001
|
NM_000249.4(MLH1):c.1039-5T>C
|
rs587782626
|
0.00001
|
NM_000249.4(MLH1):c.1451A>G (p.Asp484Gly)
|
rs876659795
|
0.00001
|
NM_000249.4(MLH1):c.1460G>A (p.Arg487Gln)
|
rs587778917
|
0.00001
|
NM_000249.4(MLH1):c.1551A>G (p.Gly517=)
|
rs373322226
|
0.00001
|
NM_000249.4(MLH1):c.1559-40A>G
|
rs1289167246
|
0.00001
|
NM_000249.4(MLH1):c.1647T>C (p.Leu549=)
|
rs768770694
|
0.00001
|
NM_000249.4(MLH1):c.1731+25T>C
|
rs1234145820
|
0.00001
|
NM_000249.4(MLH1):c.1775G>C (p.Ser592Thr)
|
rs587782621
|
0.00001
|
NM_000249.4(MLH1):c.1990-30A>G
|
rs775545664
|
0.00001
|
NM_000249.4(MLH1):c.2104-22T>G
|
rs267607890
|
0.00001
|
NM_000249.4(MLH1):c.2190T>C (p.Pro730=)
|
rs1057521673
|
0.00001
|
NM_000249.4(MLH1):c.244A>G (p.Thr82Ala)
|
rs587778998
|
0.00001
|
NM_000249.4(MLH1):c.306+15C>G
|
rs1047862390
|
0.00001
|
NM_000249.4(MLH1):c.306G>A (p.Glu102=)
|
rs63751665
|
0.00001
|
NM_000249.4(MLH1):c.541G>A (p.Gly181Ser)
|
rs1064795694
|
0.00001
|
NM_000249.4(MLH1):c.622C>T (p.Pro208Ser)
|
rs587781509
|
0.00001
|
NM_000249.4(MLH1):c.636C>T (p.Thr212=)
|
rs138735345
|
0.00001
|
NM_000249.4(MLH1):c.739T>G (p.Ser247Ala)
|
rs63750948
|
0.00001
|
NM_000249.4(MLH1):c.790+20A>G
|
rs774777889
|
0.00001
|
NM_000249.4(MLH1):c.791-14T>C
|
rs751254837
|
0.00001
|
NM_000249.4(MLH1):c.848A>G (p.Tyr283Cys)
|
rs201931669
|
0.00001
|
NM_000249.4(MLH1):c.943C>T (p.His315Tyr)
|
rs151119913
|
0.00001
|
NM_000251.3(MSH2):c.-4C>T
|
rs1376741577
|
0.00001
|
NM_000251.3(MSH2):c.1077-3C>T
|
rs758182607
|
0.00001
|
NM_000251.3(MSH2):c.10C>A (p.Gln4Lys)
|
rs878853797
|
0.00001
|
NM_000251.3(MSH2):c.1124C>T (p.Thr375Ile)
|
rs774539871
|
0.00001
|
NM_000251.3(MSH2):c.1360A>G (p.Ile454Val)
|
rs587781627
|
0.00001
|
NM_000251.3(MSH2):c.146A>T (p.Asp49Val)
|
rs63750335
|
0.00001
|
NM_000251.3(MSH2):c.1759+9A>C
|
rs994093288
|
0.00001
|
NM_000251.3(MSH2):c.2005+46T>G
|
rs1005837916
|
0.00001
|
NM_000251.3(MSH2):c.2006-4G>A
|
rs369853630
|
0.00001
|
NM_000251.3(MSH2):c.2048G>T (p.Gly683Val)
|
rs755920849
|
0.00001
|
NM_000251.3(MSH2):c.2164G>A (p.Val722Ile)
|
rs587781996
|
0.00001
|
NM_000251.3(MSH2):c.2211-36A>G
|
rs772752045
|
0.00001
|
NM_000251.3(MSH2):c.2211-7G>A
|
rs764972956
|
0.00001
|
NM_000251.3(MSH2):c.366+39A>G
|
rs761928912
|
0.00001
|
NM_000251.3(MSH2):c.645+3A>G
|
rs587779168
|
0.00001
|
NM_000251.3(MSH2):c.646-3T>C
|
rs267607930
|
0.00001
|
NM_000251.3(MSH2):c.728G>A (p.Arg243Gln)
|
rs63751455
|
0.00001
|
NM_000251.3(MSH2):c.755A>G (p.Gln252Arg)
|
rs370906735
|
0.00001
|
NM_000251.3(MSH2):c.972G>A (p.Gln324=)
|
rs63750505
|
0.00001
|
NM_000251.3(MSH2):c.992A>G (p.Asn331Ser)
|
rs779673318
|
0.00001
|
NM_000260.4(MYO7A):c.3289C>T (p.Gln1097Ter)
|
rs548381313
|
0.00001
|
NM_000264.5(PTCH1):c.1001A>G (p.Tyr334Cys)
|
rs1841406856
|
0.00001
|
NM_000264.5(PTCH1):c.1347+9C>T
|
rs775905392
|
0.00001
|
NM_000264.5(PTCH1):c.2016G>A (p.Thr672=)
|
rs776286129
|
0.00001
|
NM_000264.5(PTCH1):c.2679C>T (p.Arg893=)
|
rs752658093
|
0.00001
|
NM_000264.5(PTCH1):c.3156G>A (p.Thr1052=)
|
rs549164233
|
0.00001
|
NM_000264.5(PTCH1):c.3443T>C (p.Ile1148Thr)
|
rs1838650766
|
0.00001
|
NM_000264.5(PTCH1):c.3565G>A (p.Gly1189Ser)
|
rs767535853
|
0.00001
|
NM_000264.5(PTCH1):c.4162G>A (p.Gly1388Arg)
|
rs587778631
|
0.00001
|
NM_000264.5(PTCH1):c.945+10A>C
|
rs771708898
|
0.00001
|
NM_000298.6(PKLR):c.1091G>A (p.Gly364Asp)
|
rs981579065
|
0.00001
|
NM_000314.8(PTEN):c.210-9T>C
|
rs751744545
|
0.00001
|
NM_000314.8(PTEN):c.440A>G (p.Lys147Arg)
|
rs757087471
|
0.00001
|
NM_000321.3(RB1):c.1489A>G (p.Thr497Ala)
|
rs776531398
|
0.00001
|
NM_000321.3(RB1):c.2242G>A (p.Glu748Lys)
|
rs121913297
|
0.00001
|
NM_000329.3(RPE65):c.344T>C (p.Ile115Thr)
|
rs1645929674
|
0.00001
|
NM_000342.3(SLC4A1):c.1462G>A (p.Val488Met)
|
rs28931584
|
0.00001
|
NM_000361.3(THBD):c.1557A>G (p.Ile519Met)
|
rs537228949
|
0.00001
|
NM_000388.4(CASR):c.1189G>A (p.Gly397Arg)
|
rs1064794291
|
0.00001
|
NM_000388.4(CASR):c.2301G>A (p.Glu767=)
|
rs769706960
|
0.00001
|
NM_000388.4(CASR):c.2393C>T (p.Pro798Leu)
|
rs1060502856
|
0.00001
|
NM_000388.4(CASR):c.2838G>A (p.Gln946=)
|
rs774889993
|
0.00001
|
NM_000388.4(CASR):c.40A>G (p.Thr14Ala)
|
rs199515839
|
0.00001
|
NM_000388.4(CASR):c.492+5T>A
|
rs200277155
|
0.00001
|
NM_000431.4(MVK):c.59A>C (p.His20Pro)
|
rs104895295
|
0.00001
|
NM_000455.5(STK11):c.*11C>T
|
rs553039153
|
0.00001
|
NM_000455.5(STK11):c.1036G>A (p.Gly346Ser)
|
rs375431906
|
0.00001
|
NM_000455.5(STK11):c.1039G>A (p.Ala347Thr)
|
rs369744528
|
0.00001
|
NM_000455.5(STK11):c.1151G>A (p.Arg384Gln)
|
rs371102112
|
0.00001
|
NM_000455.5(STK11):c.1153G>A (p.Gly385Ser)
|
rs763586612
|
0.00001
|
NM_000455.5(STK11):c.1208A>G (p.Lys403Arg)
|
rs587781633
|
0.00001
|
NM_000455.5(STK11):c.1217C>T (p.Ala406Val)
|
rs748202003
|
0.00001
|
NM_000455.5(STK11):c.300A>G (p.Gln100=)
|
rs765890997
|
0.00001
|
NM_000455.5(STK11):c.462C>T (p.His154=)
|
rs786201418
|
0.00001
|
NM_000455.5(STK11):c.559G>A (p.Gly187Ser)
|
rs587782032
|
0.00001
|
NM_000455.5(STK11):c.597+31G>A
|
rs764179419
|
0.00001
|
NM_000455.5(STK11):c.734+19C>T
|
rs372338167
|
0.00001
|
NM_000455.5(STK11):c.765C>T (p.Phe255=)
|
rs769912677
|
0.00001
|
NM_000455.5(STK11):c.882G>A (p.Pro294=)
|
rs587781178
|
0.00001
|
NM_000455.5(STK11):c.921-8G>A
|
rs863224362
|
0.00001
|
NM_000465.4(BARD1):c.1016G>A (p.Ser339Asn)
|
rs201261729
|
0.00001
|
NM_000465.4(BARD1):c.1083A>G (p.Glu361=)
|
rs778116528
|
0.00001
|
NM_000465.4(BARD1):c.1279_1281del (p.Arg427del)
|
rs1378231954
|
0.00001
|
NM_000465.4(BARD1):c.1307C>G (p.Ser436Cys)
|
rs752234478
|
0.00001
|
NM_000465.4(BARD1):c.1396-22del
|
rs750290706
|
0.00001
|
NM_000465.4(BARD1):c.1569-16G>A
|
rs781375440
|
0.00001
|
NM_000465.4(BARD1):c.1677+17C>T
|
rs774325249
|
0.00001
|
NM_000465.4(BARD1):c.1718T>C (p.Ile573Thr)
|
rs587780022
|
0.00001
|
NM_000465.4(BARD1):c.173G>A (p.Arg58Lys)
|
rs774009993
|
0.00001
|
NM_000465.4(BARD1):c.2013G>A (p.Leu671=)
|
rs759021562
|
0.00001
|
NM_000465.4(BARD1):c.2075T>C (p.Ile692Thr)
|
rs587782555
|
0.00001
|
NM_000465.4(BARD1):c.2178C>T (p.Pro726=)
|
rs201873551
|
0.00001
|
NM_000465.4(BARD1):c.2262A>G (p.Lys754=)
|
rs1446285640
|
0.00001
|
NM_000465.4(BARD1):c.274A>T (p.Ile92Leu)
|
rs750878896
|
0.00001
|
NM_000465.4(BARD1):c.388A>G (p.Lys130Glu)
|
rs776760754
|
0.00001
|
NM_000465.4(BARD1):c.632T>C (p.Leu211Ser)
|
rs762171436
|
0.00001
|
NM_000465.4(BARD1):c.73G>C (p.Ala25Pro)
|
rs751646468
|
0.00001
|
NM_000465.4(BARD1):c.889G>A (p.Val297Ile)
|
rs754720101
|
0.00001
|
NM_000465.4(BARD1):c.926C>T (p.Thr309Ile)
|
rs1236791029
|
0.00001
|
NM_000508.3(FGA):c.112A>G (p.Arg38Gly)
|
rs121909608
|
0.00001
|
NM_000518.5(HBB):c.25_26del (p.Lys9fs)
|
rs35497102
|
0.00001
|
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly)
|
rs121908025
|
0.00001
|
NM_000535.7(PMS2):c.-18G>C
|
rs200624125
|
0.00001
|
NM_000535.7(PMS2):c.1167A>G (p.Ala389=)
|
rs748920792
|
0.00001
|
NM_000535.7(PMS2):c.1225G>C (p.Gly409Arg)
|
rs864622553
|
0.00001
|
NM_000535.7(PMS2):c.1240G>T (p.Asp414Tyr)
|
rs370752614
|
0.00001
|
NM_000535.7(PMS2):c.1360C>T (p.Leu454=)
|
rs1338448094
|
0.00001
|
NM_000535.7(PMS2):c.1587G>A (p.Ser529=)
|
rs786201709
|
0.00001
|
NM_000535.7(PMS2):c.1602C>G (p.Asp534Glu)
|
rs1554297497
|
0.00001
|
NM_000535.7(PMS2):c.1674C>T (p.Thr558=)
|
rs876658134
|
0.00001
|
NM_000535.7(PMS2):c.1686T>G (p.Phe562Leu)
|
rs764749700
|
0.00001
|
NM_000535.7(PMS2):c.1713C>T (p.Leu571=)
|
rs745774944
|
0.00001
|
NM_000535.7(PMS2):c.1715C>T (p.Ala572Val)
|
rs770625733
|
0.00001
|
NM_000535.7(PMS2):c.1753C>A (p.Leu585Ile)
|
rs63750947
|
0.00001
|
NM_000535.7(PMS2):c.1765G>C (p.Asp589His)
|
rs749727182
|
0.00001
|
NM_000535.7(PMS2):c.2035A>G (p.Ile679Val)
|
rs587780047
|
0.00001
|
NM_000535.7(PMS2):c.2036T>C (p.Ile679Thr)
|
rs778251286
|
0.00001
|
NM_000535.7(PMS2):c.2148C>T (p.Thr716=)
|
rs748404138
|
0.00001
|
NM_000535.7(PMS2):c.2174+39A>G
|
rs760327865
|
0.00001
|
NM_000535.7(PMS2):c.229G>A (p.Glu77Lys)
|
rs751235177
|
0.00001
|
NM_000535.7(PMS2):c.2335G>A (p.Gly779Arg)
|
rs587780053
|
0.00001
|
NM_000535.7(PMS2):c.2382dup (p.Gly795fs)
|
rs1231406078
|
0.00001
|
NM_000535.7(PMS2):c.2404C>T (p.Arg802Ter)
|
rs63751466
|
0.00001
|
NM_000535.7(PMS2):c.2476G>A (p.Glu826Lys)
|
rs587782828
|
0.00001
|
NM_000535.7(PMS2):c.320G>T (p.Arg107Leu)
|
rs63751284
|
0.00001
|
NM_000535.7(PMS2):c.608C>G (p.Thr203Ser)
|
rs779946576
|
0.00001
|
NM_000535.7(PMS2):c.667A>G (p.Ile223Val)
|
rs876660067
|
0.00001
|
NM_000535.7(PMS2):c.706-48T>C
|
rs765707036
|
0.00001
|
NM_000535.7(PMS2):c.720T>A (p.Ile240=)
|
rs777148436
|
0.00001
|
NM_000535.7(PMS2):c.750C>T (p.Ser250=)
|
rs200439295
|
0.00001
|
NM_000535.7(PMS2):c.803+22G>C
|
rs775392039
|
0.00001
|
NM_000535.7(PMS2):c.903+20G>C
|
rs750189082
|
0.00001
|
NM_000535.7(PMS2):c.913C>G (p.Leu305Val)
|
rs750420143
|
0.00001
|
NM_000546.6(TP53):c.144C>T (p.Asp48=)
|
rs587781460
|
0.00001
|
NM_000546.6(TP53):c.221C>T (p.Ala74Val)
|
rs587781832
|
0.00001
|
NM_000546.6(TP53):c.282A>G (p.Ser94=)
|
rs771721337
|
0.00001
|
NM_000546.6(TP53):c.321C>T (p.Tyr107=)
|
rs770776262
|
0.00001
|
NM_000546.6(TP53):c.328C>T (p.Arg110Cys)
|
rs587781371
|
0.00001
|
NM_000546.6(TP53):c.376-1G>A
|
rs868137297
|
0.00001
|
NM_000546.6(TP53):c.455C>T (p.Pro152Leu)
|
rs587782705
|
0.00001
|
NM_000546.6(TP53):c.473G>A (p.Arg158His)
|
rs587782144
|
0.00001
|
NM_000546.6(TP53):c.523C>T (p.Arg175Cys)
|
rs138729528
|
0.00001
|
NM_000546.6(TP53):c.524G>A (p.Arg175His)
|
rs28934578
|
0.00001
|
NM_000546.6(TP53):c.542G>A (p.Arg181His)
|
rs397514495
|
0.00001
|
NM_000546.6(TP53):c.559G>A (p.Gly187Ser)
|
rs776167460
|
0.00001
|
NM_000546.6(TP53):c.560-1G>A
|
rs1202793339
|
0.00001
|
NM_000546.6(TP53):c.572C>G (p.Pro191Arg)
|
rs587778718
|
0.00001
|
NM_000546.6(TP53):c.919+7A>C
|
rs199527475
|
0.00001
|
NM_000551.4(VHL):c.-35G>A
|
rs587780992
|
0.00001
|
NM_000551.4(VHL):c.340+770T>C
|
rs1346312258
|
0.00001
|
NM_000551.4(VHL):c.341-10G>C
|
rs140064807
|
0.00001
|
NM_000552.5(VWF):c.3390C>T (p.Cys1130=)
|
rs1591865617
|
0.00001
|
NM_000552.5(VWF):c.3944G>A (p.Arg1315His)
|
rs61749396
|
0.00001
|
NM_000791.4(DHFR):c.-239T>A
|
rs775714088
|
0.00001
|
NM_000791.4(DHFR):c.-319G>A
|
rs749586225
|
0.00001
|
NM_000791.4(DHFR):c.-391A>G
|
rs910557064
|
0.00001
|
NM_000791.4(DHFR):c.-476C>G
|
rs1196929384
|
0.00001
|
NM_001040108.2(MLH3):c.1306A>G (p.Asn436Asp)
|
rs754824568
|
0.00001
|
NM_001040108.2(MLH3):c.1519A>G (p.Met507Val)
|
rs371891794
|
0.00001
|
NM_001040108.2(MLH3):c.1794T>C (p.Tyr598=)
|
rs139018020
|
0.00001
|
NM_001040108.2(MLH3):c.1955C>T (p.Thr652Ile)
|
rs769332499
|
0.00001
|
NM_001040108.2(MLH3):c.2218A>G (p.Ile740Val)
|
rs1892322400
|
0.00001
|
NM_001040108.2(MLH3):c.2668A>G (p.Met890Val)
|
rs970455680
|
0.00001
|
NM_001040108.2(MLH3):c.3280+19T>C
|
rs773682420
|
0.00001
|
NM_001040108.2(MLH3):c.3280+9G>A
|
rs766230638
|
0.00001
|
NM_001040108.2(MLH3):c.330G>A (p.Ser110=)
|
rs189749330
|
0.00001
|
NM_001040108.2(MLH3):c.3335C>T (p.Pro1112Leu)
|
rs138166592
|
0.00001
|
NM_001040108.2(MLH3):c.3411G>A (p.Ser1137=)
|
rs746749487
|
0.00001
|
NM_001040108.2(MLH3):c.3644-43G>A
|
rs778971284
|
0.00001
|
NM_001040108.2(MLH3):c.3716-10C>T
|
rs374204567
|
0.00001
|
NM_001040108.2(MLH3):c.3751C>T (p.Arg1251Trp)
|
rs754799700
|
0.00001
|
NM_001040108.2(MLH3):c.3784C>T (p.Pro1262Ser)
|
rs372912259
|
0.00001
|
NM_001040108.2(MLH3):c.3950G>A (p.Arg1317Gln)
|
rs1434472127
|
0.00001
|
NM_001040108.2(MLH3):c.4012-16C>T
|
rs45498895
|
0.00001
|
NM_001040108.2(MLH3):c.4027G>A (p.Gly1343Arg)
|
rs28757040
|
0.00001
|
NM_001040108.2(MLH3):c.4127A>G (p.Glu1376Gly)
|
rs748701618
|
0.00001
|
NM_001040108.2(MLH3):c.41G>A (p.Arg14His)
|
rs760072474
|
0.00001
|
NM_001040108.2(MLH3):c.6C>G (p.Ile2Met)
|
rs776416749
|
0.00001
|
NM_001042492.3(NF1):c.6704+3A>G
|
rs375560135
|
0.00001
|
NM_001048174.2(MUTYH):c.1102+1G>A
|
rs587781337
|
0.00001
|
NM_001048174.2(MUTYH):c.1102+42_1102+43del
|
rs775033999
|
0.00001
|
NM_001048174.2(MUTYH):c.1103-44C>T
|
rs771062894
|
0.00001
|
NM_001048174.2(MUTYH):c.1125G>A (p.Glu375=)
|
rs876660199
|
0.00001
|
NM_001048174.2(MUTYH):c.1134C>T (p.Ser378=)
|
rs759460243
|
0.00001
|
NM_001048174.2(MUTYH):c.1239+16A>G
|
rs1057521503
|
0.00001
|
NM_001048174.2(MUTYH):c.1380C>T (p.Thr460=)
|
rs373973053
|
0.00001
|
NM_001048174.2(MUTYH):c.160T>C (p.Ser54Pro)
|
rs773198648
|
0.00001
|
NM_001048174.2(MUTYH):c.206G>A (p.Arg69Gln)
|
rs755653922
|
0.00001
|
NM_001048174.2(MUTYH):c.379-47C>T
|
rs151105575
|
0.00001
|
NM_001048174.2(MUTYH):c.492+7G>A
|
rs756863931
|
0.00001
|
NM_001048174.2(MUTYH):c.595G>A (p.Ala199Thr)
|
rs369854269
|
0.00001
|
NM_001048174.2(MUTYH):c.606+29G>A
|
rs1164268987
|
0.00001
|
NM_001048174.2(MUTYH):c.704+7T>A
|
rs369052315
|
0.00001
|
NM_001048174.2(MUTYH):c.736C>T (p.Arg246Trp)
|
rs769237459
|
0.00001
|
NM_001048174.2(MUTYH):c.773G>A (p.Gly258Glu)
|
rs730881833
|
0.00001
|
NM_001048174.2(MUTYH):c.796C>T (p.Arg266Cys)
|
rs199840380
|
0.00001
|
NM_001048174.2(MUTYH):c.800C>T (p.Pro267Leu)
|
rs374950566
|
0.00001
|
NM_001048174.2(MUTYH):c.802C>T (p.Leu268=)
|
rs778782508
|
0.00001
|
NM_001048174.2(MUTYH):c.835C>T (p.Arg279Trp)
|
rs759822330
|
0.00001
|
NM_001048174.2(MUTYH):c.842G>A (p.Arg281His)
|
rs587782727
|
0.00001
|
NM_001048174.2(MUTYH):c.903G>C (p.Val301=)
|
rs749048388
|
0.00001
|
NM_001065.4(TNFRSF1A):c.1226G>T (p.Arg409Leu)
|
rs561674960
|
0.00001
|
NM_001082486.2(ACD):c.114C>G (p.Ala38=)
|
rs756189227
|
0.00001
|
NM_001082486.2(ACD):c.1237G>T (p.Ala413Ser)
|
rs779041176
|
0.00001
|
NM_001082486.2(ACD):c.689C>A (p.Ser230Tyr)
|
rs752793753
|
0.00001
|
NM_001099274.3(TINF2):c.1076G>A (p.Cys359Tyr)
|
rs368350757
|
0.00001
|
NM_001099274.3(TINF2):c.793C>T (p.Arg265Ter)
|
rs200320654
|
0.00001
|
NM_001111.5(ADAR):c.2433_2434del (p.Ala813fs)
|
rs779357448
|
0.00001
|
NM_001126108.2(SLC12A3):c.2660G>A (p.Arg887Gln)
|
rs369360334
|
0.00001
|
NM_001127511.3(APC):c.-39T>A
|
rs1466692709
|
0.00001
|
NM_001127511.3(APC):c.-68G>C
|
rs1163893701
|
0.00001
|
NM_001127511.3(APC):c.165+3G>T
|
rs765384591
|
0.00001
|
NM_001127511.3(APC):c.27G>C (p.Pro9=)
|
rs761592349
|
0.00001
|
NM_001127511.3(APC):c.30C>A (p.Val10=)
|
rs917976853
|
0.00001
|
NM_001128425.2(MUTYH):c.2T>C (p.Met1Thr)
|
rs865954220
|
0.00001
|
NM_001130004.2(ACTN1):c.673G>A (p.Glu225Lys)
|
rs387907350
|
0.00001
|
NM_001142864.4(PIEZO1):c.5284C>T (p.Arg1762Cys)
|
rs1184084921
|
0.00001
|
NM_001287.6(CLCN7):c.746C>T (p.Pro249Leu)
|
rs2038850050
|
0.00001
|
NM_001354604.2(MITF):c.666+8A>G
|
rs560348035
|
0.00001
|
NM_001354604.2(MITF):c.763-50C>A
|
rs756211227
|
0.00001
|
NM_001364905.1(LRBA):c.6847G>A (p.Asp2283Asn)
|
rs939898061
|
0.00001
|
NM_001370259.2(MEN1):c.1185+19A>G
|
rs1456615213
|
0.00001
|
NM_001370259.2(MEN1):c.1392G>A (p.Ala464=)
|
rs754445482
|
0.00001
|
NM_001378974.1(FBXW11):c.1543C>T (p.Arg515Cys)
|
rs1265464557
|
0.00001
|
NM_001903.5(CTNNA1):c.1185G>A (p.Leu395=)
|
rs748186935
|
0.00001
|
NM_001903.5(CTNNA1):c.1663G>A (p.Val555Ile)
|
rs201877485
|
0.00001
|
NM_001903.5(CTNNA1):c.1966G>A (p.Val656Ile)
|
rs564390551
|
0.00001
|
NM_001903.5(CTNNA1):c.2148C>G (p.Ala716=)
|
rs775187806
|
0.00001
|
NM_001903.5(CTNNA1):c.2442C>T (p.Ser814=)
|
rs143248909
|
0.00001
|
NM_001903.5(CTNNA1):c.2511C>T (p.Tyr837=)
|
rs768589719
|
0.00001
|
NM_002067.5(GNA11):c.137-39C>T
|
rs1442317846
|
0.00001
|
NM_002382.5(MAX):c.425C>T (p.Ser142Leu)
|
rs760147253
|
0.00001
|
NM_002439.5(MSH3):c.1037C>T (p.Pro346Leu)
|
rs773569755
|
0.00001
|
NM_002439.5(MSH3):c.1149G>A (p.Lys383=)
|
rs776871293
|
0.00001
|
NM_002439.5(MSH3):c.1210A>G (p.Ser404Gly)
|
rs753497335
|
0.00001
|
NM_002439.5(MSH3):c.1293C>T (p.Ala431=)
|
rs760654110
|
0.00001
|
NM_002439.5(MSH3):c.1340+6T>C
|
rs749448458
|
0.00001
|
NM_002439.5(MSH3):c.1523A>G (p.Lys508Arg)
|
rs763370550
|
0.00001
|
NM_002439.5(MSH3):c.1584A>G (p.Leu528=)
|
rs1262725129
|
0.00001
|
NM_002439.5(MSH3):c.1834G>A (p.Glu612Lys)
|
rs759247521
|
0.00001
|
NM_002439.5(MSH3):c.1877G>A (p.Cys626Tyr)
|
rs780102728
|
0.00001
|
NM_002439.5(MSH3):c.1897-15del
|
rs750269580
|
0.00001
|
NM_002439.5(MSH3):c.1935A>G (p.Leu645=)
|
rs1164830782
|
0.00001
|
NM_002439.5(MSH3):c.2342A>T (p.His781Leu)
|
rs753129920
|
0.00001
|
NM_002439.5(MSH3):c.2383C>T (p.Leu795Phe)
|
rs768661033
|
0.00001
|
NM_002439.5(MSH3):c.2436-3T>C
|
rs374901174
|
0.00001
|
NM_002439.5(MSH3):c.2442C>G (p.Phe814Leu)
|
rs759094395
|
0.00001
|
NM_002439.5(MSH3):c.2571T>A (p.Ile857=)
|
rs781196482
|
0.00001
|
NM_002439.5(MSH3):c.2813+34G>T
|
rs780197668
|
0.00001
|
NM_002439.5(MSH3):c.2813+9G>A
|
rs369244653
|
0.00001
|
NM_002439.5(MSH3):c.2845C>T (p.Gln949Ter)
|
rs758546167
|
0.00001
|
NM_002439.5(MSH3):c.2857A>T (p.Met953Leu)
|
rs528928531
|
0.00001
|
NM_002439.5(MSH3):c.2936G>C (p.Arg979Thr)
|
rs1174658305
|
0.00001
|
NM_002439.5(MSH3):c.307A>G (p.Lys103Glu)
|
rs759128700
|
0.00001
|
NM_002439.5(MSH3):c.3191C>T (p.Ala1064Val)
|
rs1354644574
|
0.00001
|
NM_002439.5(MSH3):c.3303-16T>G
|
rs767324024
|
0.00001
|
NM_002439.5(MSH3):c.359-36A>G
|
rs762161316
|
0.00001
|
NM_002439.5(MSH3):c.558G>A (p.Ser186=)
|
rs760604405
|
0.00001
|
NM_002439.5(MSH3):c.590T>G (p.Leu197Arg)
|
rs1181059079
|
0.00001
|
NM_002439.5(MSH3):c.670C>T (p.Arg224Trp)
|
rs748207601
|
0.00001
|
NM_002439.5(MSH3):c.690G>A (p.Thr230=)
|
rs751177946
|
0.00001
|
NM_002439.5(MSH3):c.840T>C (p.Phe280=)
|
rs1255740947
|
0.00001
|
NM_002439.5(MSH3):c.886C>T (p.Arg296Cys)
|
rs201216791
|
0.00001
|
NM_002439.5(MSH3):c.909G>C (p.Lys303Asn)
|
rs757164724
|
0.00001
|
NM_002528.7(NTHL1):c.-1C>T
|
rs532310992
|
0.00001
|
NM_002528.7(NTHL1):c.174G>A (p.Val58=)
|
rs769199407
|
0.00001
|
NM_002528.7(NTHL1):c.225G>C (p.Lys75Asn)
|
rs1432630427
|
0.00001
|
NM_002528.7(NTHL1):c.354+16_354+19dup
|
rs761177500
|
0.00001
|
NM_002528.7(NTHL1):c.41G>A (p.Ser14Asn)
|
rs746090969
|
0.00001
|
NM_002528.7(NTHL1):c.443C>T (p.Ala148Val)
|
rs748576083
|
0.00001
|
NM_002528.7(NTHL1):c.614C>T (p.Ala205Val)
|
rs748719278
|
0.00001
|
NM_002528.7(NTHL1):c.621G>A (p.Pro207=)
|
rs745383145
|
0.00001
|
NM_002528.7(NTHL1):c.680G>A (p.Gly227Asp)
|
rs1055874267
|
0.00001
|
NM_002528.7(NTHL1):c.81G>A (p.Glu27=)
|
rs1596227883
|
0.00001
|
NM_002691.4(POLD1):c.1029C>T (p.Arg343=)
|
rs759213871
|
0.00001
|
NM_002691.4(POLD1):c.1268G>A (p.Arg423His)
|
rs199576140
|
0.00001
|
NM_002691.4(POLD1):c.1608G>A (p.Ala536=)
|
rs568549476
|
0.00001
|
NM_002691.4(POLD1):c.162G>A (p.Glu54=)
|
rs977829339
|
0.00001
|
NM_002691.4(POLD1):c.1687-16C>T
|
rs745548510
|
0.00001
|
NM_002691.4(POLD1):c.1691T>G (p.Met564Arg)
|
rs748444470
|
0.00001
|
NM_002691.4(POLD1):c.1776-20C>T
|
rs746366643
|
0.00001
|
NM_002691.4(POLD1):c.1782C>T (p.Tyr594=)
|
rs147546995
|
0.00001
|
NM_002691.4(POLD1):c.1867C>T (p.Arg623Trp)
|
rs768773535
|
0.00001
|
NM_002691.4(POLD1):c.2238C>T (p.Ser746=)
|
rs1348543193
|
0.00001
|
NM_002691.4(POLD1):c.2250+3C>T
|
rs779097933
|
0.00001
|
NM_002691.4(POLD1):c.2300C>T (p.Ser767Leu)
|
rs556196668
|
0.00001
|
NM_002691.4(POLD1):c.2327G>A (p.Arg776Gln)
|
rs141801845
|
0.00001
|
NM_002691.4(POLD1):c.2424C>A (p.Arg808=)
|
rs878854536
|
0.00001
|
NM_002691.4(POLD1):c.242G>A (p.Arg81Gln)
|
rs755461109
|
0.00001
|
NM_002691.4(POLD1):c.2463C>T (p.His821=)
|
rs150607556
|
0.00001
|
NM_002691.4(POLD1):c.2545C>T (p.Arg849Cys)
|
rs759987234
|
0.00001
|
NM_002691.4(POLD1):c.2565-18C>T
|
rs754566158
|
0.00001
|
NM_002691.4(POLD1):c.2599G>A (p.Val867Ile)
|
rs367680864
|
0.00001
|
NM_002691.4(POLD1):c.2677G>A (p.Asp893Asn)
|
rs747559034
|
0.00001
|
NM_002691.4(POLD1):c.2736C>T (p.Pro912=)
|
rs372269344
|
0.00001
|
NM_002691.4(POLD1):c.2773G>A (p.Val925Met)
|
rs746950229
|
0.00001
|
NM_002691.4(POLD1):c.2787C>T (p.Ala929=)
|
rs1057522848
|
0.00001
|
NM_002691.4(POLD1):c.2803G>A (p.Ala935Thr)
|
rs555452657
|
0.00001
|
NM_002691.4(POLD1):c.2820+12C>T
|
rs567217817
|
0.00001
|
NM_002691.4(POLD1):c.2821-4G>A
|
rs369042179
|
0.00001
|
NM_002691.4(POLD1):c.2821-5C>T
|
rs1057521374
|
0.00001
|
NM_002691.4(POLD1):c.2937C>T (p.Ala979=)
|
rs1060504361
|
0.00001
|
NM_002691.4(POLD1):c.3094C>T (p.Arg1032Trp)
|
rs760766848
|
0.00001
|
NM_002691.4(POLD1):c.3218+1G>A
|
rs1484837283
|
0.00001
|
NM_002691.4(POLD1):c.3219-13C>T
|
rs781762349
|
0.00001
|
NM_002691.4(POLD1):c.3221G>A (p.Arg1074Gln)
|
rs541931950
|
0.00001
|
NM_002691.4(POLD1):c.3231C>T (p.Pro1077=)
|
rs770660636
|
0.00001
|
NM_002691.4(POLD1):c.323C>T (p.Ala108Val)
|
rs577686721
|
0.00001
|
NM_002691.4(POLD1):c.37G>A (p.Val13Met)
|
rs760884573
|
0.00001
|
NM_002691.4(POLD1):c.394G>A (p.Asp132Asn)
|
rs781132734
|
0.00001
|
NM_002691.4(POLD1):c.464G>C (p.Gly155Ala)
|
rs553279670
|
0.00001
|
NM_002691.4(POLD1):c.46A>G (p.Lys16Glu)
|
rs765185645
|
0.00001
|
NM_002691.4(POLD1):c.475G>A (p.Glu159Lys)
|
rs969950434
|
0.00001
|
NM_002691.4(POLD1):c.50G>A (p.Arg17Gln)
|
rs373637566
|
0.00001
|
NM_002691.4(POLD1):c.555G>A (p.Pro185=)
|
rs543351285
|
0.00001
|
NM_002691.4(POLD1):c.55C>T (p.Arg19Cys)
|
rs368033860
|
0.00001
|
NM_002691.4(POLD1):c.583C>T (p.Arg195Ter)
|
rs377690809
|
0.00001
|
NM_002691.4(POLD1):c.590-10C>G
|
rs762015952
|
0.00001
|
NM_002691.4(POLD1):c.820G>A (p.Ala274Thr)
|
rs878854557
|
0.00001
|
NM_002691.4(POLD1):c.971-8C>T
|
rs373712816
|
0.00001
|
NM_002693.3(POLG):c.679C>T (p.Arg227Trp)
|
rs121918056
|
0.00001
|
NM_002769.5(PRSS1):c.365G>A (p.Arg122His)
|
rs111033565
|
0.00001
|
NM_002878.4(RAD51D):c.131G>A (p.Gly44Asp)
|
rs374730714
|
0.00001
|
NM_002878.4(RAD51D):c.346G>A (p.Val116Ile)
|
rs753009349
|
0.00001
|
NM_002878.4(RAD51D):c.576+12G>A
|
rs757751100
|
0.00001
|
NM_002878.4(RAD51D):c.630G>A (p.Ala210=)
|
rs762585552
|
0.00001
|
NM_002878.4(RAD51D):c.667+48C>T
|
rs751115328
|
0.00001
|
NM_002878.4(RAD51D):c.716G>A (p.Arg239Gln)
|
rs780921112
|
0.00001
|
NM_002878.4(RAD51D):c.758G>A (p.Arg253Gln)
|
rs1060502963
|
0.00001
|
NM_002948.5(RPL15):c.604C>T (p.Arg202Cys)
|
rs988983281
|
0.00001
|
NM_003000.3(SDHB):c.*30C>T
|
rs199701267
|
0.00001
|
NM_003000.3(SDHB):c.143A>T (p.Asp48Val)
|
rs202101384
|
0.00001
|
NM_003000.3(SDHB):c.268C>T (p.Arg90Ter)
|
rs74315366
|
0.00001
|
NM_003000.3(SDHB):c.286+16C>T
|
rs200305451
|
0.00001
|
NM_003000.3(SDHB):c.323G>A (p.Gly108Asp)
|
rs767062764
|
0.00001
|
NM_003000.3(SDHB):c.47C>G (p.Thr16Arg)
|
rs775350144
|
0.00001
|
NM_003000.3(SDHB):c.519C>T (p.Ser173=)
|
rs768454654
|
0.00001
|
NM_003000.3(SDHB):c.642+15A>G
|
rs368427218
|
0.00001
|
NM_003000.3(SDHB):c.649C>T (p.Arg217Cys)
|
rs200245469
|
0.00001
|
NM_003000.3(SDHB):c.689G>A (p.Arg230His)
|
rs587782604
|
0.00001
|
NM_003000.3(SDHB):c.766-20T>C
|
rs750144449
|
0.00001
|
NM_003000.3(SDHB):c.769C>G (p.Leu257Val)
|
rs761350633
|
0.00001
|
NM_003001.5(SDHC):c.11T>C (p.Leu4Pro)
|
rs774299337
|
0.00001
|
NM_003001.5(SDHC):c.148C>T (p.Arg50Cys)
|
rs587778661
|
0.00001
|
NM_003001.5(SDHC):c.263C>T (p.Ser88Leu)
|
rs778212096
|
0.00001
|
NM_003001.5(SDHC):c.54T>G (p.Phe18Leu)
|
rs200761743
|
0.00001
|
NM_003001.5(SDHC):c.85C>G (p.Pro29Ala)
|
rs878854588
|
0.00001
|
NM_003001.5(SDHC):c.8C>T (p.Ala3Val)
|
rs142139022
|
0.00001
|
NM_003002.4(SDHD):c.270G>A (p.Ala90=)
|
rs766656463
|
0.00001
|
NM_003126.4(SPTA1):c.2671C>T (p.Arg891Ter)
|
rs755630903
|
0.00001
|
NM_004064.5(CDKN1B):c.149G>A (p.Arg50Lys)
|
rs771913043
|
0.00001
|
NM_004069.6(AP2S1):c.154-29C>T
|
rs534575535
|
0.00001
|
NM_004329.3(BMPR1A):c.1191C>G (p.Pro397=)
|
rs751078831
|
0.00001
|
NM_004329.3(BMPR1A):c.1215A>C (p.Lys405Asn)
|
rs587781522
|
0.00001
|
NM_004329.3(BMPR1A):c.1274A>T (p.Tyr425Phe)
|
rs758599378
|
0.00001
|
NM_004329.3(BMPR1A):c.1536C>T (p.Leu512=)
|
rs758796892
|
0.00001
|
NM_004329.3(BMPR1A):c.1549A>G (p.Ile517Val)
|
rs754607465
|
0.00001
|
NM_004329.3(BMPR1A):c.230+37G>A
|
rs201927554
|
0.00001
|
NM_004329.3(BMPR1A):c.230+49A>G
|
rs1262952075
|
0.00001
|
NM_004329.3(BMPR1A):c.524G>A (p.Cys175Tyr)
|
rs370091063
|
0.00001
|
NM_004329.3(BMPR1A):c.571C>T (p.Arg191Cys)
|
rs1053423400
|
0.00001
|
NM_004329.3(BMPR1A):c.676-5T>C
|
rs200537780
|
0.00001
|
NM_004329.3(BMPR1A):c.713G>A (p.Arg238Gln)
|
rs191742018
|
0.00001
|
NM_004329.3(BMPR1A):c.761G>A (p.Arg254His)
|
rs766908700
|
0.00001
|
NM_004360.5(CDH1):c.-21G>C
|
rs901086196
|
0.00001
|
NM_004360.5(CDH1):c.-8G>A
|
rs879449703
|
0.00001
|
NM_004360.5(CDH1):c.1127A>G (p.Asn376Ser)
|
rs1169866178
|
0.00001
|
NM_004360.5(CDH1):c.163+17G>C
|
rs1005743424
|
0.00001
|
NM_004360.5(CDH1):c.163+20G>A
|
rs1057520806
|
0.00001
|
NM_004360.5(CDH1):c.1711+6G>T
|
rs1555516597
|
0.00001
|
NM_004360.5(CDH1):c.1936A>G (p.Thr646Ala)
|
rs771064558
|
0.00001
|
NM_004360.5(CDH1):c.2046G>A (p.Glu682=)
|
rs753209043
|
0.00001
|
NM_004360.5(CDH1):c.2332G>A (p.Ala778Thr)
|
rs777078601
|
0.00001
|
NM_004360.5(CDH1):c.2578G>T (p.Asp860Tyr)
|
rs1412506259
|
0.00001
|
NM_004360.5(CDH1):c.27G>A (p.Ser9=)
|
rs786201257
|
0.00001
|
NM_004360.5(CDH1):c.604G>A (p.Val202Ile)
|
rs546716073
|
0.00001
|
NM_004360.5(CDH1):c.870C>T (p.Asp290=)
|
rs755215407
|
0.00001
|
NM_004360.5(CDH1):c.879G>A (p.Val293=)
|
rs778959722
|
0.00001
|
NM_004655.4(AXIN2):c.1102G>A (p.Ala368Thr)
|
rs772636882
|
0.00001
|
NM_004655.4(AXIN2):c.1103C>T (p.Ala368Val)
|
rs1480983759
|
0.00001
|
NM_004655.4(AXIN2):c.1200+8G>A
|
rs776372607
|
0.00001
|
NM_004655.4(AXIN2):c.13A>G (p.Met5Val)
|
rs148691166
|
0.00001
|
NM_004655.4(AXIN2):c.1422T>C (p.His474=)
|
rs748049932
|
0.00001
|
NM_004655.4(AXIN2):c.1582A>G (p.Lys528Glu)
|
rs756551019
|
0.00001
|
NM_004655.4(AXIN2):c.1748G>A (p.Gly583Glu)
|
rs777186938
|
0.00001
|
NM_004655.4(AXIN2):c.1907+11C>A
|
rs781296066
|
0.00001
|
NM_004655.4(AXIN2):c.1931A>G (p.Tyr644Cys)
|
rs1025003994
|
0.00001
|
NM_004655.4(AXIN2):c.1962C>A (p.Gly654=)
|
rs377642903
|
0.00001
|
NM_004655.4(AXIN2):c.2033T>C (p.Leu678Pro)
|
rs368798367
|
0.00001
|
NM_004655.4(AXIN2):c.2141+19T>A
|
rs959818231
|
0.00001
|
NM_004655.4(AXIN2):c.2222G>A (p.Ser741Asn)
|
rs781309325
|
0.00001
|
NM_004655.4(AXIN2):c.2274G>A (p.Ala758=)
|
rs756178538
|
0.00001
|
NM_004655.4(AXIN2):c.2420A>T (p.Lys807Ile)
|
rs780367025
|
0.00001
|
NM_004655.4(AXIN2):c.370G>A (p.Asp124Asn)
|
rs755990979
|
0.00001
|
NM_004655.4(AXIN2):c.564G>C (p.Gln188His)
|
rs753137017
|
0.00001
|
NM_004655.4(AXIN2):c.592G>C (p.Glu198Gln)
|
rs772550463
|
0.00001
|
NM_004655.4(AXIN2):c.808G>A (p.Gly270Arg)
|
rs2044291330
|
0.00001
|
NM_004655.4(AXIN2):c.815+4A>G
|
rs565020131
|
0.00001
|
NM_004655.4(AXIN2):c.893A>G (p.Asn298Ser)
|
rs139274803
|
0.00001
|
NM_004655.4(AXIN2):c.940A>G (p.Met314Val)
|
rs778252248
|
0.00001
|
NM_004655.4(AXIN2):c.956+24G>A
|
rs767683517
|
0.00001
|
NM_004655.4(AXIN2):c.956+39A>G
|
rs549469886
|
0.00001
|
NM_004656.4(BAP1):c.1165C>T (p.Arg389Cys)
|
rs373809972
|
0.00001
|
NM_004656.4(BAP1):c.1166G>A (p.Arg389His)
|
rs770778299
|
0.00001
|
NM_004656.4(BAP1):c.1251-3C>T
|
rs767276752
|
0.00001
|
NM_004656.4(BAP1):c.1548G>A (p.Pro516=)
|
rs148990823
|
0.00001
|
NM_004656.4(BAP1):c.1663C>A (p.Pro555Thr)
|
rs753264498
|
0.00001
|
NM_004656.4(BAP1):c.1669A>G (p.Ile557Val)
|
rs776549962
|
0.00001
|
NM_004656.4(BAP1):c.2158C>T (p.Arg720Cys)
|
rs759611495
|
0.00001
|
NM_004656.4(BAP1):c.256-18C>T
|
rs1379738285
|
0.00001
|
NM_004656.4(BAP1):c.341G>A (p.Arg114His)
|
rs773494626
|
0.00001
|
NM_004656.4(BAP1):c.360G>A (p.Lys120=)
|
rs749405309
|
0.00001
|
NM_004656.4(BAP1):c.405G>A (p.Pro135=)
|
rs768046980
|
0.00001
|
NM_004656.4(BAP1):c.423T>C (p.His141=)
|
rs757571975
|
0.00001
|
NM_004656.4(BAP1):c.438-2A>G
|
rs587776879
|
0.00001
|
NM_004656.4(BAP1):c.487C>T (p.Arg163Trp)
|
rs1385279115
|
0.00001
|
NM_004656.4(BAP1):c.54C>T (p.Leu18=)
|
rs769459561
|
0.00001
|
NM_004656.4(BAP1):c.581-4C>T
|
rs1578225974
|
0.00001
|
NM_004656.4(BAP1):c.588G>C (p.Trp196Cys)
|
rs1193212091
|
0.00001
|
NM_004656.4(BAP1):c.67+46C>T
|
rs775402861
|
0.00001
|
NM_004656.4(BAP1):c.67+5G>C
|
rs1033651300
|
0.00001
|
NM_004656.4(BAP1):c.720G>A (p.Lys240=)
|
rs1379682858
|
0.00001
|
NM_004656.4(BAP1):c.783+2T>C
|
rs774730309
|
0.00001
|
NM_005359.6(SMAD4):c.1492T>C (p.Leu498=)
|
rs1057520520
|
0.00001
|
NM_005359.6(SMAD4):c.470T>C (p.Met157Thr)
|
rs756675590
|
0.00001
|
NM_005359.6(SMAD4):c.566G>A (p.Arg189His)
|
rs759288477
|
0.00001
|
NM_005359.6(SMAD4):c.672G>A (p.Gln224=)
|
rs1397172791
|
0.00001
|
NM_005359.6(SMAD4):c.788-31C>T
|
rs1342126153
|
0.00001
|
NM_005359.6(SMAD4):c.827A>T (p.Tyr276Phe)
|
rs1229812463
|
0.00001
|
NM_005359.6(SMAD4):c.855C>T (p.Asn285=)
|
rs1187796771
|
0.00001
|
NM_005359.6(SMAD4):c.917A>G (p.Asn306Ser)
|
rs730881953
|
0.00001
|
NM_005359.6(SMAD4):c.955+15A>G
|
rs185228929
|
0.00001
|
NM_005359.6(SMAD4):c.956-17C>T
|
rs1315017766
|
0.00001
|
NM_005732.4(RAD50):c.756+2T>C
|
rs764122619
|
0.00001
|
NM_005918.4(MDH2):c.505G>A (p.Val169Met)
|
rs145207041
|
0.00001
|
NM_006231.4(POLE):c.1032C>T (p.Ile344=)
|
rs763678641
|
0.00001
|
NM_006231.4(POLE):c.109C>T (p.Arg37Trp)
|
rs753101641
|
0.00001
|
NM_006231.4(POLE):c.1197G>A (p.Ala399=)
|
rs1000162996
|
0.00001
|
NM_006231.4(POLE):c.1224C>A (p.Leu408=)
|
rs748536025
|
0.00001
|
NM_006231.4(POLE):c.1226+40G>A
|
rs370594302
|
0.00001
|
NM_006231.4(POLE):c.1227-29C>T
|
rs762128600
|
0.00001
|
NM_006231.4(POLE):c.1278G>A (p.Ala426=)
|
rs1437075270
|
0.00001
|
NM_006231.4(POLE):c.1326G>A (p.Glu442=)
|
rs745411507
|
0.00001
|
NM_006231.4(POLE):c.1419C>T (p.Tyr473=)
|
rs369961557
|
0.00001
|
NM_006231.4(POLE):c.1605C>G (p.Asp535Glu)
|
rs2042958233
|
0.00001
|
NM_006231.4(POLE):c.1687-39T>G
|
rs376101669
|
0.00001
|
NM_006231.4(POLE):c.1696G>A (p.Ala566Thr)
|
rs773813430
|
0.00001
|
NM_006231.4(POLE):c.1736G>A (p.Arg579His)
|
rs149296223
|
0.00001
|
NM_006231.4(POLE):c.1789G>A (p.Glu597Lys)
|
rs768396766
|
0.00001
|
NM_006231.4(POLE):c.1794+16G>A
|
rs770818395
|
0.00001
|
NM_006231.4(POLE):c.1846C>T (p.Arg616Cys)
|
rs752076074
|
0.00001
|
NM_006231.4(POLE):c.2087C>T (p.Pro696Leu)
|
rs766037063
|
0.00001
|
NM_006231.4(POLE):c.2217G>A (p.Val739=)
|
rs374750963
|
0.00001
|
NM_006231.4(POLE):c.229C>T (p.Arg77Cys)
|
rs1060500889
|
0.00001
|
NM_006231.4(POLE):c.2320-33C>G
|
rs764670001
|
0.00001
|
NM_006231.4(POLE):c.2320-41G>A
|
rs550421855
|
0.00001
|
NM_006231.4(POLE):c.2320-8C>T
|
rs745933620
|
0.00001
|
NM_006231.4(POLE):c.2322G>A (p.Val774=)
|
rs1057524564
|
0.00001
|
NM_006231.4(POLE):c.2358C>T (p.Gly786=)
|
rs1278181584
|
0.00001
|
NM_006231.4(POLE):c.2377C>T (p.Arg793Cys)
|
rs376624527
|
0.00001
|
NM_006231.4(POLE):c.2662G>A (p.Val888Met)
|
rs1314058108
|
0.00001
|
NM_006231.4(POLE):c.2682C>T (p.Gly894=)
|
rs757453683
|
0.00001
|
NM_006231.4(POLE):c.285+30C>T
|
rs184271897
|
0.00001
|
NM_006231.4(POLE):c.3275+38T>C
|
rs5744859
|
0.00001
|
NM_006231.4(POLE):c.3308C>A (p.Pro1103His)
|
rs759126051
|
0.00001
|
NM_006231.4(POLE):c.331-27A>C
|
rs1365832415
|
0.00001
|
NM_006231.4(POLE):c.3447G>A (p.Ala1149=)
|
rs758702382
|
0.00001
|
NM_006231.4(POLE):c.3492C>T (p.Pro1164=)
|
rs754348616
|
0.00001
|
NM_006231.4(POLE):c.3587C>T (p.Thr1196Met)
|
rs866237249
|
0.00001
|
NM_006231.4(POLE):c.3588G>A (p.Thr1196=)
|
rs771747587
|
0.00001
|
NM_006231.4(POLE):c.3645C>T (p.Phe1215=)
|
rs758716323
|
0.00001
|
NM_006231.4(POLE):c.3695A>C (p.Lys1232Thr)
|
rs774999422
|
0.00001
|
NM_006231.4(POLE):c.3866G>A (p.Arg1289His)
|
rs781298285
|
0.00001
|
NM_006231.4(POLE):c.3990G>A (p.Pro1330=)
|
rs777546371
|
0.00001
|
NM_006231.4(POLE):c.4005+7A>G
|
rs372329585
|
0.00001
|
NM_006231.4(POLE):c.4100A>G (p.Tyr1367Cys)
|
rs1365073969
|
0.00001
|
NM_006231.4(POLE):c.4149+3A>C
|
rs1358505756
|
0.00001
|
NM_006231.4(POLE):c.4156C>T (p.Arg1386Trp)
|
rs747619107
|
0.00001
|
NM_006231.4(POLE):c.4193A>G (p.Tyr1398Cys)
|
rs878854868
|
0.00001
|
NM_006231.4(POLE):c.4198T>C (p.Tyr1400His)
|
rs761011442
|
0.00001
|
NM_006231.4(POLE):c.4236C>T (p.Asn1412=)
|
rs377245595
|
0.00001
|
NM_006231.4(POLE):c.424-50T>C
|
rs1205301176
|
0.00001
|
NM_006231.4(POLE):c.4290+21G>A
|
rs544899153
|
0.00001
|
NM_006231.4(POLE):c.4399C>A (p.His1467Asn)
|
rs753417741
|
0.00001
|
NM_006231.4(POLE):c.4411C>T (p.Arg1471Cys)
|
rs528264567
|
0.00001
|
NM_006231.4(POLE):c.4445-19G>A
|
rs1396516668
|
0.00001
|
NM_006231.4(POLE):c.4490A>G (p.Lys1497Arg)
|
rs557957962
|
0.00001
|
NM_006231.4(POLE):c.44C>T (p.Ala15Val)
|
rs1565986587
|
0.00001
|
NM_006231.4(POLE):c.4551+15C>T
|
rs770422878
|
0.00001
|
NM_006231.4(POLE):c.4581C>T (p.Gly1527=)
|
rs772646117
|
0.00001
|
NM_006231.4(POLE):c.4789G>A (p.Ala1597Thr)
|
rs752184541
|
0.00001
|
NM_006231.4(POLE):c.4827G>A (p.Val1609=)
|
rs770382974
|
0.00001
|
NM_006231.4(POLE):c.4934A>G (p.Gln1645Arg)
|
rs878854879
|
0.00001
|
NM_006231.4(POLE):c.5035C>T (p.Arg1679Cys)
|
rs768244569
|
0.00001
|
NM_006231.4(POLE):c.5168C>T (p.Ser1723Phe)
|
rs996998835
|
0.00001
|
NM_006231.4(POLE):c.5274C>T (p.Phe1758=)
|
rs921653059
|
0.00001
|
NM_006231.4(POLE):c.5304C>T (p.Asp1768=)
|
rs747138372
|
0.00001
|
NM_006231.4(POLE):c.5346C>T (p.Tyr1782=)
|
rs761902063
|
0.00001
|
NM_006231.4(POLE):c.5361del (p.Cys1788fs)
|
rs752558475
|
0.00001
|
NM_006231.4(POLE):c.5379-14A>C
|
rs1210105737
|
0.00001
|
NM_006231.4(POLE):c.5397C>T (p.Val1799=)
|
rs770069897
|
0.00001
|
NM_006231.4(POLE):c.5572C>T (p.Arg1858Cys)
|
rs1193081581
|
0.00001
|
NM_006231.4(POLE):c.557C>T (p.Ala186Val)
|
rs151325267
|
0.00001
|
NM_006231.4(POLE):c.5633G>A (p.Arg1878His)
|
rs374022997
|
0.00001
|
NM_006231.4(POLE):c.578+47A>G
|
rs1389319633
|
0.00001
|
NM_006231.4(POLE):c.5811+6C>T
|
rs753430384
|
0.00001
|
NM_006231.4(POLE):c.5812-10T>C
|
rs1357148818
|
0.00001
|
NM_006231.4(POLE):c.5812-1G>T
|
rs1296022681
|
0.00001
|
NM_006231.4(POLE):c.5812-4A>G
|
rs377036606
|
0.00001
|
NM_006231.4(POLE):c.5845G>A (p.Glu1949Lys)
|
rs779394509
|
0.00001
|
NM_006231.4(POLE):c.5901G>A (p.Ala1967=)
|
rs200474862
|
0.00001
|
NM_006231.4(POLE):c.6019G>A (p.Val2007Met)
|
rs748106601
|
0.00001
|
NM_006231.4(POLE):c.6045G>A (p.Leu2015=)
|
rs764220093
|
0.00001
|
NM_006231.4(POLE):c.6073G>A (p.Val2025Met)
|
rs995579204
|
0.00001
|
NM_006231.4(POLE):c.6156G>A (p.Gln2052=)
|
rs149841283
|
0.00001
|
NM_006231.4(POLE):c.6166G>A (p.Ala2056Thr)
|
rs58916399
|
0.00001
|
NM_006231.4(POLE):c.62+34C>T
|
rs1158594758
|
0.00001
|
NM_006231.4(POLE):c.6210T>A (p.Ile2070=)
|
rs139990705
|
0.00001
|
NM_006231.4(POLE):c.6257T>C (p.Met2086Thr)
|
rs528752399
|
0.00001
|
NM_006231.4(POLE):c.6532-14C>T
|
rs1483343976
|
0.00001
|
NM_006231.4(POLE):c.664C>T (p.Arg222Cys)
|
rs767503360
|
0.00001
|
NM_006231.4(POLE):c.6748-20G>C
|
rs139246810
|
0.00001
|
NM_006231.4(POLE):c.720+20G>A
|
rs771352389
|
0.00001
|
NM_006231.4(POLE):c.765A>G (p.Val255=)
|
rs898919469
|
0.00001
|
NM_006231.4(POLE):c.775C>T (p.Arg259Cys)
|
rs777638541
|
0.00001
|
NM_006231.4(POLE):c.797G>T (p.Arg266Leu)
|
rs115786159
|
0.00001
|
NM_006231.4(POLE):c.808G>A (p.Val270Met)
|
rs374237142
|
0.00001
|
NM_006231.4(POLE):c.833C>T (p.Thr278Met)
|
rs764254754
|
0.00001
|
NM_006231.4(POLE):c.90G>A (p.Ser30=)
|
rs369224511
|
0.00001
|
NM_006231.4(POLE):c.974A>G (p.Lys325Arg)
|
rs1555229291
|
0.00001
|
NM_006231.4(POLE):c.996T>C (p.Phe332=)
|
rs779159186
|
0.00001
|
NM_006563.5(KLF1):c.954G>C (p.Trp318Cys)
|
rs769526751
|
0.00001
|
NM_007194.4(CHEK2):c.1009-7T>G
|
rs763174055
|
0.00001
|
NM_007194.4(CHEK2):c.1036C>T (p.Arg346Cys)
|
rs201206424
|
0.00001
|
NM_007194.4(CHEK2):c.1039G>A (p.Asp347Asn)
|
rs28909980
|
0.00001
|
NM_007194.4(CHEK2):c.1067C>T (p.Ser356Leu)
|
rs121908703
|
0.00001
|
NM_007194.4(CHEK2):c.1201A>G (p.Thr401Ala)
|
rs121908704
|
0.00001
|
NM_007194.4(CHEK2):c.1260-1G>A
|
rs786201906
|
0.00001
|
NM_007194.4(CHEK2):c.1260-8A>G
|
rs863224747
|
0.00001
|
NM_007194.4(CHEK2):c.1375+26T>C
|
rs527418829
|
0.00001
|
NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys)
|
rs540635787
|
0.00001
|
NM_007194.4(CHEK2):c.1452G>A (p.Pro484=)
|
rs749156425
|
0.00001
|
NM_007194.4(CHEK2):c.1522C>G (p.Leu508Val)
|
rs876660898
|
0.00001
|
NM_007194.4(CHEK2):c.1593G>A (p.Glu531=)
|
rs758555487
|
0.00001
|
NM_007194.4(CHEK2):c.319G>A (p.Glu107Lys)
|
rs775320614
|
0.00001
|
NM_007194.4(CHEK2):c.381A>G (p.Glu127=)
|
rs199929178
|
0.00001
|
NM_007194.4(CHEK2):c.434G>A (p.Arg145Gln)
|
rs587781667
|
0.00001
|
NM_007194.4(CHEK2):c.445-10T>C
|
rs1060504692
|
0.00001
|
NM_007194.4(CHEK2):c.683+9T>C
|
rs1060504691
|
0.00001
|
NM_007194.4(CHEK2):c.73G>A (p.Val25Ile)
|
rs142243299
|
0.00001
|
NM_007194.4(CHEK2):c.787G>C (p.Glu263Gln)
|
rs730881686
|
0.00001
|
NM_007194.4(CHEK2):c.847-7T>G
|
rs1057520267
|
0.00001
|
NM_007194.4(CHEK2):c.851G>A (p.Cys284Tyr)
|
rs876658150
|
0.00001
|
NM_007194.4(CHEK2):c.85C>T (p.Gln29Ter)
|
rs761494650
|
0.00001
|
NM_007194.4(CHEK2):c.8G>A (p.Arg3Gln)
|
rs779607427
|
0.00001
|
NM_007194.4(CHEK2):c.906A>C (p.Glu302Asp)
|
rs587780190
|
0.00001
|
NM_007194.4(CHEK2):c.908+18T>A
|
rs755416802
|
0.00001
|
NM_007194.4(CHEK2):c.990G>A (p.Gln330=)
|
rs9625537
|
0.00001
|
NM_007294.4(BRCA1):c.*22G>C
|
rs1346384762
|
0.00001
|
NM_007294.4(BRCA1):c.1333G>C (p.Glu445Gln)
|
rs80356915
|
0.00001
|
NM_007294.4(BRCA1):c.154C>T (p.Leu52Phe)
|
rs80357084
|
0.00001
|
NM_007294.4(BRCA1):c.1687C>T (p.Gln563Ter)
|
rs80356898
|
0.00001
|
NM_007294.4(BRCA1):c.1797T>C (p.Asn599=)
|
rs756211343
|
0.00001
|
NM_007294.4(BRCA1):c.1879G>A (p.Val627Ile)
|
rs80357425
|
0.00001
|
NM_007294.4(BRCA1):c.2078A>G (p.Asp693Gly)
|
rs756748588
|
0.00001
|
NM_007294.4(BRCA1):c.2281G>C (p.Glu761Gln)
|
rs397507198
|
0.00001
|
NM_007294.4(BRCA1):c.230C>T (p.Thr77Met)
|
rs80357209
|
0.00001
|
NM_007294.4(BRCA1):c.2475del (p.Asp825fs)
|
rs80357970
|
0.00001
|
NM_007294.4(BRCA1):c.2503C>T (p.His835Tyr)
|
rs751656678
|
0.00001
|
NM_007294.4(BRCA1):c.2584A>G (p.Lys862Glu)
|
rs80356927
|
0.00001
|
NM_007294.4(BRCA1):c.2597G>A (p.Arg866His)
|
rs80356911
|
0.00001
|
NM_007294.4(BRCA1):c.2613G>A (p.Pro871=)
|
rs587782608
|
0.00001
|
NM_007294.4(BRCA1):c.2630A>G (p.Asn877Ser)
|
rs786203689
|
0.00001
|
NM_007294.4(BRCA1):c.2666C>T (p.Ser889Phe)
|
rs769712441
|
0.00001
|
NM_007294.4(BRCA1):c.267C>G (p.Ile89Met)
|
rs80356963
|
0.00001
|
NM_007294.4(BRCA1):c.2902C>T (p.Pro968Ser)
|
rs1182090591
|
0.00001
|
NM_007294.4(BRCA1):c.3082C>T (p.Arg1028Cys)
|
rs80357049
|
0.00001
|
NM_007294.4(BRCA1):c.3327A>C (p.Lys1109Asn)
|
rs41293449
|
0.00001
|
NM_007294.4(BRCA1):c.3416G>T (p.Ser1139Ile)
|
rs80357228
|
0.00001
|
NM_007294.4(BRCA1):c.3518G>A (p.Ser1173Asn)
|
rs746949187
|
0.00001
|
NM_007294.4(BRCA1):c.3540C>T (p.Ser1180=)
|
rs928545955
|
0.00001
|
NM_007294.4(BRCA1):c.3541G>A (p.Val1181Ile)
|
rs56336919
|
0.00001
|
NM_007294.4(BRCA1):c.3587C>T (p.Thr1196Ile)
|
rs80356944
|
0.00001
|
NM_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter)
|
rs62625308
|
0.00001
|
NM_007294.4(BRCA1):c.3625T>G (p.Leu1209Val)
|
rs273900711
|
0.00001
|
NM_007294.4(BRCA1):c.3659A>T (p.Asp1220Val)
|
rs766572561
|
0.00001
|
NM_007294.4(BRCA1):c.3800T>C (p.Leu1267Ser)
|
rs587782190
|
0.00001
|
NM_007294.4(BRCA1):c.3868A>G (p.Lys1290Glu)
|
rs80357254
|
0.00001
|
NM_007294.4(BRCA1):c.4204C>T (p.His1402Tyr)
|
rs80357365
|
0.00001
|
NM_007294.4(BRCA1):c.4222C>T (p.Gln1408Ter)
|
rs80356989
|
0.00001
|
NM_007294.4(BRCA1):c.4328G>A (p.Arg1443Gln)
|
rs4986849
|
0.00001
|
NM_007294.4(BRCA1):c.4357+14G>T
|
rs760989937
|
0.00001
|
NM_007294.4(BRCA1):c.4357+16C>A
|
rs1060504577
|
0.00001
|
NM_007294.4(BRCA1):c.4380T>C (p.Ser1460=)
|
rs786203100
|
0.00001
|
NM_007294.4(BRCA1):c.4643C>T (p.Thr1548Met)
|
rs273900737
|
0.00001
|
NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter)
|
rs80357433
|
0.00001
|
NM_007294.4(BRCA1):c.4765C>T (p.Arg1589Cys)
|
rs80357002
|
0.00001
|
NM_007294.4(BRCA1):c.5074+29T>C
|
rs778992032
|
0.00001
|
NM_007294.4(BRCA1):c.508C>T (p.Arg170Trp)
|
rs80357325
|
0.00001
|
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln)
|
rs41293459
|
0.00001
|
NM_007294.4(BRCA1):c.5153-13A>G
|
rs45471406
|
0.00001
|
NM_007294.4(BRCA1):c.5412C>T (p.Val1804=)
|
rs730881456
|
0.00001
|
NM_007294.4(BRCA1):c.5439T>C (p.Asp1813=)
|
rs760396669
|
0.00001
|
NM_007294.4(BRCA1):c.5444G>A (p.Trp1815Ter)
|
rs80356962
|
0.00001
|
NM_007294.4(BRCA1):c.547+42G>A
|
rs1273859752
|
0.00001
|
NM_007294.4(BRCA1):c.5504G>A (p.Arg1835Gln)
|
rs273902776
|
0.00001
|
NM_007294.4(BRCA1):c.5514G>T (p.Val1838=)
|
rs786201248
|
0.00001
|
NM_007294.4(BRCA1):c.5571G>T (p.Gln1857His)
|
rs28897699
|
0.00001
|
NM_007294.4(BRCA1):c.5586C>T (p.His1862=)
|
rs774127304
|
0.00001
|
NM_007294.4(BRCA1):c.564A>G (p.Glu188=)
|
rs768065826
|
0.00001
|
NM_007294.4(BRCA1):c.825C>T (p.Gly275=)
|
rs397509328
|
0.00001
|
NM_007294.4(BRCA1):c.988G>A (p.Asp330Asn)
|
rs397507259
|
0.00001
|
NM_013372.7(GREM1):c.105G>T (p.Pro35=)
|
rs746525315
|
0.00001
|
NM_014915.3(ANKRD26):c.-126T>C
|
rs1589393792
|
0.00001
|
NM_015450.3(POT1):c.1130C>G (p.Ser377Cys)
|
rs776187798
|
0.00001
|
NM_015450.3(POT1):c.1369+10T>A
|
rs773549874
|
0.00001
|
NM_015450.3(POT1):c.1411A>C (p.Asn471His)
|
rs1562977912
|
0.00001
|
NM_015450.3(POT1):c.1534A>G (p.Ile512Val)
|
rs1179111946
|
0.00001
|
NM_015450.3(POT1):c.1555G>A (p.Val519Ile)
|
rs776873207
|
0.00001
|
NM_015450.3(POT1):c.1565C>T (p.Thr522Ile)
|
rs754745002
|
0.00001
|
NM_015450.3(POT1):c.1595-17T>G
|
rs760900938
|
0.00001
|
NM_015450.3(POT1):c.315G>A (p.Thr105=)
|
rs377547236
|
0.00001
|
NM_015450.3(POT1):c.635G>A (p.Arg212Gln)
|
rs746903370
|
0.00001
|
NM_015450.3(POT1):c.73G>A (p.Val25Ile)
|
rs375825837
|
0.00001
|
NM_015450.3(POT1):c.77A>G (p.Tyr26Cys)
|
rs1197625483
|
0.00001
|
NM_015450.3(POT1):c.87G>A (p.Val29=)
|
rs1481759760
|
0.00001
|
NM_015450.3(POT1):c.899A>G (p.Asn300Ser)
|
rs573222502
|
0.00001
|
NM_015450.3(POT1):c.9+8G>A
|
rs767433441
|
0.00001
|
NM_015450.3(POT1):c.916A>G (p.Ile306Val)
|
rs1415345156
|
0.00001
|
NM_015450.3(POT1):c.991C>T (p.Gln331Ter)
|
rs531061783
|
0.00001
|
NM_015450.3(POT1):c.994C>T (p.Leu332=)
|
rs138223484
|
0.00001
|
NM_015450.3(POT1):c.996A>G (p.Leu332=)
|
rs1224859801
|
0.00001
|
NM_016169.4(SUFU):c.1055C>A (p.Ser352Tyr)
|
rs1464341550
|
0.00001
|
NM_016169.4(SUFU):c.529A>G (p.Met177Val)
|
rs758672583
|
0.00001
|
NM_016169.4(SUFU):c.645C>T (p.Asn215=)
|
rs551772204
|
0.00001
|
NM_017763.6(RNF43):c.1102C>T (p.Arg368Trp)
|
rs568220750
|
0.00001
|
NM_017763.6(RNF43):c.1360C>T (p.Arg454Cys)
|
rs1055597951
|
0.00001
|
NM_017763.6(RNF43):c.1604C>T (p.Ser535Leu)
|
rs369428576
|
0.00001
|
NM_017763.6(RNF43):c.163A>G (p.Met55Val)
|
rs752403399
|
0.00001
|
NM_017763.6(RNF43):c.1645C>G (p.His549Asp)
|
rs1428642923
|
0.00001
|
NM_017763.6(RNF43):c.1654C>T (p.Arg552Cys)
|
rs746033324
|
0.00001
|
NM_017763.6(RNF43):c.1675A>C (p.Lys559Gln)
|
rs777723421
|
0.00001
|
NM_017763.6(RNF43):c.1885G>A (p.Ala629Thr)
|
rs538022572
|
0.00001
|
NM_017763.6(RNF43):c.2003G>A (p.Arg668Gln)
|
rs184604359
|
0.00001
|
NM_017763.6(RNF43):c.405T>C (p.Ser135=)
|
rs765811705
|
0.00001
|
NM_017763.6(RNF43):c.503A>G (p.Asp168Gly)
|
rs368233607
|
0.00001
|
NM_017849.4(TMEM127):c.380G>A (p.Arg127His)
|
rs777665433
|
0.00001
|
NM_018975.4(TERF2IP):c.602C>T (p.Pro201Leu)
|
rs762304444
|
0.00001
|
NM_020975.6(RET):c.1306A>G (p.Ile436Val)
|
rs770736612
|
0.00001
|
NM_020975.6(RET):c.1462A>T (p.Thr488Ser)
|
rs753733901
|
0.00001
|
NM_020975.6(RET):c.1522+20A>G
|
rs1053383471
|
0.00001
|
NM_020975.6(RET):c.2370G>T (p.Leu790Phe)
|
rs75030001
|
0.00001
|
NM_020975.6(RET):c.2730+12C>T
|
rs372080924
|
0.00001
|
NM_020975.6(RET):c.2939+7G>A
|
rs374565577
|
0.00001
|
NM_020975.6(RET):c.3052C>T (p.Leu1018Phe)
|
rs766330880
|
0.00001
|
NM_020975.6(RET):c.626-49C>T
|
rs1381620754
|
0.00001
|
NM_021175.4(HAMP):c.91-1G>A
|
rs761907472
|
0.00001
|
NM_021870.3(FGG):c.502A>G (p.Thr168Ala)
|
rs141559764
|
0.00001
|
NM_022437.3(ABCG8):c.1608G>A (p.Trp536Ter)
|
rs544500542
|
0.00001
|
NM_024529.5(CDC73):c.1137C>G (p.Asp379Glu)
|
rs774536123
|
0.00001
|
NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter)
|
rs180177100
|
0.00001
|
NM_024675.4(PALB2):c.1408A>G (p.Thr470Ala)
|
rs150636811
|
0.00001
|
NM_024675.4(PALB2):c.1660G>A (p.Glu554Lys)
|
rs377486858
|
0.00001
|
NM_024675.4(PALB2):c.1697G>A (p.Arg566His)
|
rs144617793
|
0.00001
|
NM_024675.4(PALB2):c.206A>C (p.His69Pro)
|
rs749443090
|
0.00001
|
NM_024675.4(PALB2):c.212-45T>C
|
rs528563270
|
0.00001
|
NM_024675.4(PALB2):c.2197A>G (p.Thr733Ala)
|
rs879254051
|
0.00001
|
NM_024675.4(PALB2):c.2277A>G (p.Gln759=)
|
rs786202524
|
0.00001
|
NM_024675.4(PALB2):c.2344C>T (p.Pro782Ser)
|
rs786203296
|
0.00001
|
NM_024675.4(PALB2):c.2356C>T (p.His786Tyr)
|
rs786203608
|
0.00001
|
NM_024675.4(PALB2):c.2435C>T (p.Pro812Leu)
|
rs774502617
|
0.00001
|
NM_024675.4(PALB2):c.2456A>G (p.Lys819Arg)
|
rs587778585
|
0.00001
|
NM_024675.4(PALB2):c.2505C>T (p.Ser835=)
|
rs756502783
|
0.00001
|
NM_024675.4(PALB2):c.2596G>T (p.Gly866Cys)
|
rs780415750
|
0.00001
|
NM_024675.4(PALB2):c.2748+13C>G
|
rs771355581
|
0.00001
|
NM_024675.4(PALB2):c.2835-11A>G
|
rs747232850
|
0.00001
|
NM_024675.4(PALB2):c.2859T>C (p.Asp953=)
|
rs515726101
|
0.00001
|
NM_024675.4(PALB2):c.2922G>T (p.Lys974Asn)
|
rs730881892
|
0.00001
|
NM_024675.4(PALB2):c.312T>C (p.Pro104=)
|
rs749203259
|
0.00001
|
NM_024675.4(PALB2):c.315G>C (p.Glu105Asp)
|
rs515726108
|
0.00001
|
NM_024675.4(PALB2):c.3276C>T (p.Leu1092=)
|
rs779003246
|
0.00001
|
NM_024675.4(PALB2):c.330A>G (p.Gly110=)
|
rs876660773
|
0.00001
|
NM_024675.4(PALB2):c.3320T>C (p.Leu1107Pro)
|
rs149194681
|
0.00001
|
NM_024675.4(PALB2):c.3350+11A>G
|
rs515726114
|
0.00001
|
NM_024675.4(PALB2):c.3391A>G (p.Ile1131Val)
|
rs774517454
|
0.00001
|
NM_024675.4(PALB2):c.3449T>G (p.Leu1150Arg)
|
rs45566737
|
0.00001
|
NM_024675.4(PALB2):c.3518C>T (p.Ala1173Val)
|
rs146659762
|
0.00001
|
NM_024675.4(PALB2):c.48+50C>T
|
rs1227997015
|
0.00001
|
NM_024675.4(PALB2):c.481G>C (p.Asp161His)
|
rs769841151
|
0.00001
|
NM_024675.4(PALB2):c.495C>T (p.Gly165=)
|
rs200937538
|
0.00001
|
NM_024675.4(PALB2):c.546C>T (p.Ile182=)
|
rs1597098917
|
0.00001
|
NM_024675.4(PALB2):c.78G>A (p.Arg26=)
|
rs45572434
|
0.00001
|
NM_024675.4(PALB2):c.814G>A (p.Glu272Lys)
|
rs515726127
|
0.00001
|
NM_024675.4(PALB2):c.831C>T (p.Asp277=)
|
rs62625273
|
0.00001
|
NM_024675.4(PALB2):c.84C>T (p.Tyr28=)
|
rs761533286
|
0.00001
|
NM_024675.4(PALB2):c.899C>T (p.Thr300Ile)
|
rs528541334
|
0.00001
|
NM_032043.3(BRIP1):c.1198G>T (p.Asp400Tyr)
|
rs764711572
|
0.00001
|
NM_032043.3(BRIP1):c.1357G>A (p.Ala453Thr)
|
rs587780227
|
0.00001
|
NM_032043.3(BRIP1):c.1442G>A (p.Gly481Asp)
|
rs200062099
|
0.00001
|
NM_032043.3(BRIP1):c.1455T>C (p.Ala485=)
|
rs773489367
|
0.00001
|
NM_032043.3(BRIP1):c.1473+6A>G
|
rs587780827
|
0.00001
|
NM_032043.3(BRIP1):c.1474-3T>C
|
rs552752779
|
0.00001
|
NM_032043.3(BRIP1):c.1795-33T>C
|
rs1412016871
|
0.00001
|
NM_032043.3(BRIP1):c.1795-9T>G
|
rs777006706
|
0.00001
|
NM_032043.3(BRIP1):c.2098-3T>C
|
rs1057520463
|
0.00001
|
NM_032043.3(BRIP1):c.2258A>G (p.Asp753Gly)
|
rs745578572
|
0.00001
|
NM_032043.3(BRIP1):c.2284C>T (p.Arg762Cys)
|
rs587778136
|
0.00001
|
NM_032043.3(BRIP1):c.2345T>C (p.Ile782Thr)
|
rs778758437
|
0.00001
|
NM_032043.3(BRIP1):c.2441G>A (p.Arg814His)
|
rs45468199
|
0.00001
|
NM_032043.3(BRIP1):c.2569A>G (p.Ile857Val)
|
rs28904918
|
0.00001
|
NM_032043.3(BRIP1):c.2576-36T>G
|
rs760331024
|
0.00001
|
NM_032043.3(BRIP1):c.2732dup (p.Thr912fs)
|
rs752780954
|
0.00001
|
NM_032043.3(BRIP1):c.2765T>G (p.Leu922Ter)
|
rs587782410
|
0.00001
|
NM_032043.3(BRIP1):c.2811T>C (p.Asp937=)
|
rs374335608
|
0.00001
|
NM_032043.3(BRIP1):c.2906-15T>A
|
rs771068891
|
0.00001
|
NM_032043.3(BRIP1):c.3050C>T (p.Pro1017Leu)
|
rs747907706
|
0.00001
|
NM_032043.3(BRIP1):c.3075A>T (p.Ser1025=)
|
rs1060504319
|
0.00001
|
NM_032043.3(BRIP1):c.3140T>C (p.Leu1047Ser)
|
rs786203344
|
0.00001
|
NM_032043.3(BRIP1):c.3149C>A (p.Thr1050Asn)
|
rs373040333
|
0.00001
|
NM_032043.3(BRIP1):c.3154A>G (p.Lys1052Glu)
|
rs1285783476
|
0.00001
|
NM_032043.3(BRIP1):c.3178G>A (p.Val1060Ile)
|
rs149016505
|
0.00001
|
NM_032043.3(BRIP1):c.326A>G (p.Asn109Ser)
|
rs587782734
|
0.00001
|
NM_032043.3(BRIP1):c.3354T>C (p.Asn1118=)
|
rs757427210
|
0.00001
|
NM_032043.3(BRIP1):c.3388A>G (p.Ile1130Val)
|
rs786202549
|
0.00001
|
NM_032043.3(BRIP1):c.3727G>T (p.Gly1243Cys)
|
rs587780250
|
0.00001
|
NM_032043.3(BRIP1):c.627+5G>A
|
rs745727200
|
0.00001
|
NM_032043.3(BRIP1):c.679C>G (p.Gln227Glu)
|
rs45459799
|
0.00001
|
NM_032043.3(BRIP1):c.774G>C (p.Gln258His)
|
rs1198536492
|
0.00001
|
NM_032977.4(CASP10):c.1159C>G (p.Pro387Ala)
|
rs759782468
|
0.00001
|
NM_052872.4(IL17F):c.3G>C (p.Met1Ile)
|
rs752517532
|
0.00001
|
NM_058195.4(CDKN2A):c.-39G>A
|
rs1064793537
|
0.00001
|
NM_058195.4(CDKN2A):c.178C>T (p.Leu60Phe)
|
rs769257927
|
0.00001
|
NM_058195.4(CDKN2A):c.193+13C>T
|
rs777267719
|
0.00001
|
NM_058216.3(RAD51C):c.1096C>T (p.Arg366Trp)
|
rs587782449
|
0.00001
|
NM_058216.3(RAD51C):c.487A>G (p.Ser163Gly)
|
rs776904180
|
0.00001
|
NM_058216.3(RAD51C):c.497T>C (p.Val166Ala)
|
rs765300465
|
0.00001
|
NM_058216.3(RAD51C):c.523G>A (p.Ala175Thr)
|
rs587780838
|
0.00001
|
NM_058216.3(RAD51C):c.621T>A (p.His207Gln)
|
rs786201848
|
0.00001
|
NM_058216.3(RAD51C):c.654G>A (p.Glu218=)
|
rs1388636466
|
0.00001
|
NM_058216.3(RAD51C):c.709C>T (p.Arg237Ter)
|
rs770637624
|
0.00001
|
NM_058216.3(RAD51C):c.710G>A (p.Arg237Gln)
|
rs370393672
|
0.00001
|
NM_058216.3(RAD51C):c.730A>G (p.Ile244Val)
|
rs199886026
|
0.00001
|
NM_058216.3(RAD51C):c.772C>T (p.Arg258Cys)
|
rs587782474
|
0.00001
|
NM_058216.3(RAD51C):c.904+5G>T
|
rs587782702
|
0.00001
|
NM_058216.3(RAD51C):c.905-2_905-1del
|
rs587781995
|
0.00001
|
NM_058216.3(RAD51C):c.905-2del
|
rs876658652
|
0.00001
|
NM_144997.7(FLCN):c.1059G>A (p.Arg353=)
|
rs751513488
|
0.00001
|
NM_144997.7(FLCN):c.1227C>T (p.Tyr409=)
|
rs561236067
|
0.00001
|
NM_144997.7(FLCN):c.1266G>A (p.Pro422=)
|
rs751013842
|
0.00001
|
NM_144997.7(FLCN):c.1599G>C (p.Gln533His)
|
rs190965235
|
0.00001
|
NM_144997.7(FLCN):c.1635C>G (p.Asp545Glu)
|
rs760329266
|
0.00001
|
NM_144997.7(FLCN):c.169C>T (p.Arg57Trp)
|
rs746507528
|
0.00001
|
NM_144997.7(FLCN):c.1700C>T (p.Ser567Phe)
|
rs1466102804
|
0.00001
|
NM_144997.7(FLCN):c.237G>A (p.Ser79=)
|
rs771650940
|
0.00001
|
NM_144997.7(FLCN):c.410G>A (p.Arg137His)
|
rs1289872207
|
0.00001
|
NM_144997.7(FLCN):c.42C>T (p.His14=)
|
rs766288960
|
0.00001
|
NM_144997.7(FLCN):c.535C>T (p.Arg179Trp)
|
rs774358971
|
0.00001
|
NM_144997.7(FLCN):c.603G>T (p.Gln201His)
|
rs759405317
|
0.00001
|
NM_144997.7(FLCN):c.680C>T (p.Thr227Met)
|
rs747675386
|
0.00001
|
NM_144997.7(FLCN):c.779+1G>T
|
rs758175953
|
0.00001
|
NM_144997.7(FLCN):c.871+35C>T
|
rs370794931
|
0.00001
|
NM_177438.3(DICER1):c.1143C>T (p.Leu381=)
|
rs372592852
|
0.00001
|
NM_177438.3(DICER1):c.145-38G>A
|
rs760770267
|
0.00001
|
NM_177438.3(DICER1):c.1607G>A (p.Arg536His)
|
rs965350808
|
0.00001
|
NM_177438.3(DICER1):c.1625A>G (p.Glu542Gly)
|
rs761391603
|
0.00001
|
NM_177438.3(DICER1):c.1886C>T (p.Thr629Met)
|
rs750410087
|
0.00001
|
NM_177438.3(DICER1):c.2011A>G (p.Ile671Val)
|
rs768315203
|
0.00001
|
NM_177438.3(DICER1):c.2040+16G>T
|
rs201592071
|
0.00001
|
NM_177438.3(DICER1):c.2116+7A>G
|
rs563163879
|
0.00001
|
NM_177438.3(DICER1):c.2257-13T>A
|
rs765918712
|
0.00001
|
NM_177438.3(DICER1):c.2263G>A (p.Glu755Lys)
|
rs1555370957
|
0.00001
|
NM_177438.3(DICER1):c.2553G>A (p.Gln851=)
|
rs373715574
|
0.00001
|
NM_177438.3(DICER1):c.263A>T (p.Asp88Val)
|
rs775828379
|
0.00001
|
NM_177438.3(DICER1):c.2857G>A (p.Asp953Asn)
|
rs745810853
|
0.00001
|
NM_177438.3(DICER1):c.320C>T (p.Ala107Val)
|
rs1060503655
|
0.00001
|
NM_177438.3(DICER1):c.3269+12C>T
|
rs775380766
|
0.00001
|
NM_177438.3(DICER1):c.3459C>T (p.Cys1153=)
|
rs1300692476
|
0.00001
|
NM_177438.3(DICER1):c.3516T>G (p.Leu1172=)
|
rs1190256792
|
0.00001
|
NM_177438.3(DICER1):c.379C>G (p.Leu127Val)
|
rs560739585
|
0.00001
|
NM_177438.3(DICER1):c.392C>T (p.Ala131Val)
|
rs774138190
|
0.00001
|
NM_177438.3(DICER1):c.3987A>G (p.Thr1329=)
|
rs373810197
|
0.00001
|
NM_177438.3(DICER1):c.4091G>C (p.Gly1364Ala)
|
rs1467554488
|
0.00001
|
NM_177438.3(DICER1):c.4207-13C>G
|
rs116910771
|
0.00001
|
NM_177438.3(DICER1):c.4357A>G (p.Ile1453Val)
|
rs1040361162
|
0.00001
|
NM_177438.3(DICER1):c.4575G>A (p.Val1525=)
|
rs189516161
|
0.00001
|
NM_177438.3(DICER1):c.4815T>C (p.Pro1605=)
|
rs1060504976
|
0.00001
|
NM_177438.3(DICER1):c.4873T>C (p.Ser1625Pro)
|
rs529131866
|
0.00001
|
NM_177438.3(DICER1):c.4888C>T (p.Arg1630Cys)
|
rs549532374
|
0.00001
|
NM_177438.3(DICER1):c.4970A>C (p.Lys1657Thr)
|
rs778780063
|
0.00001
|
NM_177438.3(DICER1):c.5190G>A (p.Gly1730=)
|
rs371759757
|
0.00001
|
NM_177438.3(DICER1):c.5527+10G>T
|
rs764254400
|
0.00001
|
NM_177438.3(DICER1):c.5529A>G (p.Glu1843=)
|
rs768311617
|
0.00001
|
NM_177438.3(DICER1):c.5552G>A (p.Arg1851His)
|
rs1426678586
|
0.00001
|
NM_177438.3(DICER1):c.5580G>A (p.Met1860Ile)
|
rs1228225906
|
0.00001
|
NM_177438.3(DICER1):c.5648A>G (p.Glu1883Gly)
|
rs1299000813
|
0.00001
|
NM_177438.3(DICER1):c.573+15T>C
|
rs201489168
|
0.00001
|
NM_177438.3(DICER1):c.734+48A>G
|
rs757870448
|
0.00001
|
NM_177438.3(DICER1):c.742T>A (p.Ser248Thr)
|
rs759633210
|
0.00001
|
NM_177438.3(DICER1):c.884C>G (p.Ser295Cys)
|
rs548231008
|
0.00001
|
NM_198252.3(GSN):c.487G>A (p.Asp163Asn)
|
rs121909715
|
0.00001
|
NM_198253.3(TERT):c.-139C>T
|
rs35550267
|
0.00001
|
NM_198253.3(TERT):c.203C>A (p.Ala68Asp)
|
rs1421869855
|
0.00001
|
NC_000005.10:g.112707386G>A
|
rs1351477360
|
|
NC_000005.10:g.112707409G>C
|
rs1020543876
|
|
NM_000020.3(ACVRL1):c.1166G>A (p.Cys389Tyr)
|
|
|
NM_000032.5(ALAS2):c.1513A>G (p.Asn505Asp)
|
|
|
NM_000032.5(ALAS2):c.1584del (p.Met528fs)
|
|
|
NM_000037.4(ANK1):c.2462-2del
|
|
|
NM_000037.4(ANK1):c.2803C>T (p.Arg935Ter)
|
rs2150597061
|
|
NM_000037.4(ANK1):c.2839A>C (p.Thr947Pro)
|
|
|
NM_000037.4(ANK1):c.3392T>C (p.Ile1131Thr)
|
|
|
NM_000037.4(ANK1):c.4218_4219dup (p.Met1407fs)
|
|
|
NM_000037.4(ANK1):c.4585_4588dup (p.Ala1530fs)
|
|
|
NM_000037.4(ANK1):c.4699del (p.Gln1567fs)
|
|
|
NM_000037.4(ANK1):c.4792_4798del (p.His1598fs)
|
|
|
NM_000037.4(ANK1):c.4820C>G (p.Ser1607Ter)
|
|
|
NM_000037.4(ANK1):c.893_897del (p.Ile298fs)
|
|
|
NM_000038.6(APC):c.*43A>T
|
rs2150007415
|
|
NM_000038.6(APC):c.1124G>A (p.Gly375Asp)
|
rs1554080027
|
|
NM_000038.6(APC):c.1159C>T (p.Leu387Phe)
|
|
|
NM_000038.6(APC):c.1161C>T (p.Leu387=)
|
|
|
NM_000038.6(APC):c.1211T>C (p.Ile404Thr)
|
rs1762855929
|
|
NM_000038.6(APC):c.1214G>A (p.Arg405Gln)
|
rs587782383
|
|
NM_000038.6(APC):c.1279C>A (p.His427Asn)
|
rs587779781
|
|
NM_000038.6(APC):c.1312+24G>A
|
|
|
NM_000038.6(APC):c.1312+47G>T
|
rs924919382
|
|
NM_000038.6(APC):c.1408+14del
|
|
|
NM_000038.6(APC):c.1408+28_1408+29del
|
|
|
NM_000038.6(APC):c.1408+8A>G
|
rs1057523135
|
|
NM_000038.6(APC):c.1409-1G>A
|
rs863225313
|
|
NM_000038.6(APC):c.1409-27T>A
|
|
|
NM_000038.6(APC):c.1437G>A (p.Leu479=)
|
rs1114167598
|
|
NM_000038.6(APC):c.1438C>A (p.Gln480Lys)
|
rs570514864
|
|
NM_000038.6(APC):c.154C>G (p.Gln52Glu)
|
|
|
NM_000038.6(APC):c.1570G>A (p.Gly524Ser)
|
rs1174962542
|
|
NM_000038.6(APC):c.1626+30T>C
|
|
|
NM_000038.6(APC):c.1626+50G>A
|
|
|
NM_000038.6(APC):c.1627-33G>A
|
|
|
NM_000038.6(APC):c.1703G>A (p.Ser568Asn)
|
rs962373452
|
|
NM_000038.6(APC):c.1710A>C (p.Lys570Asn)
|
rs1182822563
|
|
NM_000038.6(APC):c.1743+17T>G
|
rs900659935
|
|
NM_000038.6(APC):c.1743+27A>G
|
|
|
NM_000038.6(APC):c.1743+42T>C
|
|
|
NM_000038.6(APC):c.1754T>A (p.Leu585His)
|
|
|
NM_000038.6(APC):c.1754T>C (p.Leu585Pro)
|
|
|
NM_000038.6(APC):c.1918C>A (p.Arg640=)
|
|
|
NM_000038.6(APC):c.1989A>G (p.Gln663=)
|
rs864622539
|
|
NM_000038.6(APC):c.203T>A (p.Leu68Ter)
|
rs1554069549
|
|
NM_000038.6(APC):c.2085G>A (p.Gln695=)
|
rs2149860192
|
|
NM_000038.6(APC):c.211C>A (p.Arg71Ser)
|
rs767741687
|
|
NM_000038.6(APC):c.2181G>C (p.Arg727Ser)
|
rs1346075889
|
|
NM_000038.6(APC):c.220+16G>C
|
rs756214797
|
|
NM_000038.6(APC):c.221-27A>C
|
|
|
NM_000038.6(APC):c.2280A>T (p.Leu760=)
|
|
|
NM_000038.6(APC):c.2552G>A (p.Ser851Asn)
|
rs1554084260
|
|
NM_000038.6(APC):c.2567G>A (p.Arg856His)
|
rs757164742
|
|
NM_000038.6(APC):c.2575G>T (p.Gly859Cys)
|
rs919202692
|
|
NM_000038.6(APC):c.259C>T (p.Leu87=)
|
rs569640184
|
|
NM_000038.6(APC):c.2606A>C (p.Asn869Thr)
|
|
|
NM_000038.6(APC):c.2626C>T (p.Arg876Ter)
|
rs121913333
|
|
NM_000038.6(APC):c.2664C>T (p.Ala888=)
|
rs939537800
|
|
NM_000038.6(APC):c.2756G>T (p.Arg919Ile)
|
|
|
NM_000038.6(APC):c.2819C>T (p.Ser940Leu)
|
rs544709767
|
|
NM_000038.6(APC):c.289G>A (p.Gly97Arg)
|
rs2149788254
|
|
NM_000038.6(APC):c.2970T>G (p.Asp990Glu)
|
rs1397548815
|
|
NM_000038.6(APC):c.2978A>T (p.Lys993Met)
|
|
|
NM_000038.6(APC):c.3060A>G (p.Glu1020=)
|
rs1057522595
|
|
NM_000038.6(APC):c.3183_3187del (p.Lys1061_Gln1062insTer)
|
rs587779352
|
|
NM_000038.6(APC):c.3189T>G (p.Ser1063Arg)
|
|
|
NM_000038.6(APC):c.3193C>A (p.Gln1065Lys)
|
rs1330361513
|
|
NM_000038.6(APC):c.3207G>T (p.Arg1069Ser)
|
rs762867687
|
|
NM_000038.6(APC):c.3462AGA[2] (p.Glu1157del)
|
rs386833391
|
|
NM_000038.6(APC):c.347G>A (p.Gly116Asp)
|
rs369999291
|
|
NM_000038.6(APC):c.3560T>C (p.Ile1187Thr)
|
rs730881246
|
|
NM_000038.6(APC):c.3707C>T (p.Ala1236Val)
|
|
|
NM_000038.6(APC):c.3742A>G (p.Thr1248Ala)
|
rs2149898167
|
|
NM_000038.6(APC):c.3890A>T (p.Asp1297Val)
|
|
|
NM_000038.6(APC):c.3891T>G (p.Asp1297Glu)
|
rs1580641196
|
|
NM_000038.6(APC):c.3969T>A (p.Val1323=)
|
rs1465937926
|
|
NM_000038.6(APC):c.3990T>A (p.Pro1330=)
|
rs758667746
|
|
NM_000038.6(APC):c.4020T>C (p.Ser1340=)
|
rs746379898
|
|
NM_000038.6(APC):c.4127A>G (p.Tyr1376Cys)
|
rs756664931
|
|
NM_000038.6(APC):c.4176A>C (p.Ser1392=)
|
rs2149908318
|
|
NM_000038.6(APC):c.4184G>A (p.Ser1395Asn)
|
|
|
NM_000038.6(APC):c.4219_4220del (p.Gln1406_Ser1407insTer)
|
|
|
NM_000038.6(APC):c.422+12T>A
|
|
|
NM_000038.6(APC):c.423-17dup
|
rs35031194
|
|
NM_000038.6(APC):c.423-4del
|
rs730881230
|
|
NM_000038.6(APC):c.423-4dup
|
rs730881230
|
|
NM_000038.6(APC):c.423G>T (p.Arg141Ser)
|
rs863224458
|
|
NM_000038.6(APC):c.4293_4316dup (p.Pro1441_Pro1442insSerArgSerLysThrProProPro)
|
|
|
NM_000038.6(APC):c.4348C>T (p.Arg1450Ter)
|
rs121913332
|
|
NM_000038.6(APC):c.4350_4378dup (p.Ala1460fs)
|
rs2149912455
|
|
NM_000038.6(APC):c.4440G>C (p.Gln1480His)
|
rs876659881
|
|
NM_000038.6(APC):c.4481A>G (p.Glu1494Gly)
|
rs2149915821
|
|
NM_000038.6(APC):c.4552A>G (p.Lys1518Glu)
|
rs1554085958
|
|
NM_000038.6(APC):c.4590A>G (p.Glu1530=)
|
rs1233687155
|
|
NM_000038.6(APC):c.4665_4667del (p.Lys1555_Thr1556delinsAsn)
|
|
|
NM_000038.6(APC):c.466G>A (p.Asp156Asn)
|
rs1554071538
|
|
NM_000038.6(APC):c.4702GAT[3] (p.Asp1571del)
|
rs587782888
|
|
NM_000038.6(APC):c.4758G>A (p.Lys1586=)
|
rs1060504890
|
|
NM_000038.6(APC):c.4765C>G (p.Arg1589Gly)
|
rs72541813
|
|
NM_000038.6(APC):c.4765C>T (p.Arg1589Cys)
|
rs72541813
|
|
NM_000038.6(APC):c.4766G>T (p.Arg1589Leu)
|
rs374048423
|
|
NM_000038.6(APC):c.4787A>G (p.Gln1596Arg)
|
rs1561595516
|
|
NM_000038.6(APC):c.4850T>C (p.Leu1617Pro)
|
|
|
NM_000038.6(APC):c.4902G>A (p.Pro1634=)
|
rs876659202
|
|
NM_000038.6(APC):c.4965A>G (p.Thr1655=)
|
rs863224282
|
|
NM_000038.6(APC):c.4986C>T (p.Ile1662=)
|
rs876658910
|
|
NM_000038.6(APC):c.4993C>T (p.Pro1665Ser)
|
rs1561596883
|
|
NM_000038.6(APC):c.5272T>C (p.Ser1758Pro)
|
rs1765907418
|
|
NM_000038.6(APC):c.5305A>C (p.Lys1769Gln)
|
|
|
NM_000038.6(APC):c.531+35T>C
|
|
|
NM_000038.6(APC):c.532-37C>G
|
|
|
NM_000038.6(APC):c.5335A>T (p.Ile1779Leu)
|
rs1255903182
|
|
NM_000038.6(APC):c.537C>A (p.Ser179=)
|
rs149736402
|
|
NM_000038.6(APC):c.5421CAA[1] (p.Asn1808del)
|
rs587782002
|
|
NM_000038.6(APC):c.5450A>G (p.Lys1817Arg)
|
|
|
NM_000038.6(APC):c.5740G>A (p.Ala1914Thr)
|
|
|
NM_000038.6(APC):c.5766G>A (p.Gln1922=)
|
rs2149948639
|
|
NM_000038.6(APC):c.5814del (p.Asp1939fs)
|
|
|
NM_000038.6(APC):c.5894A>G (p.His1965Arg)
|
rs773776516
|
|
NM_000038.6(APC):c.5899T>A (p.Ser1967Thr)
|
|
|
NM_000038.6(APC):c.6114G>T (p.Leu2038=)
|
rs1580667688
|
|
NM_000038.6(APC):c.6156G>A (p.Lys2052=)
|
rs1580668268
|
|
NM_000038.6(APC):c.6354TGC[5] (p.Ala2122dup)
|
rs587780602
|
|
NM_000038.6(APC):c.6358G>C (p.Ala2120Pro)
|
rs754015152
|
|
NM_000038.6(APC):c.6359C>T (p.Ala2120Val)
|
rs1580669989
|
|
NM_000038.6(APC):c.6441A>G (p.Pro2147=)
|
|
|
NM_000038.6(APC):c.6493C>A (p.Pro2165Thr)
|
rs775501375
|
|
NM_000038.6(APC):c.650G>C (p.Arg217Thr)
|
|
|
NM_000038.6(APC):c.6514G>T (p.Glu2172Ter)
|
rs864622314
|
|
NM_000038.6(APC):c.6552A>C (p.Glu2184Asp)
|
rs1580671887
|
|
NM_000038.6(APC):c.656C>A (p.Ala219Asp)
|
rs1561502152
|
|
NM_000038.6(APC):c.6576A>G (p.Lys2192=)
|
rs876659760
|
|
NM_000038.6(APC):c.6579A>G (p.Lys2193=)
|
rs908184283
|
|
NM_000038.6(APC):c.6688A>G (p.Met2230Val)
|
rs751547785
|
|
NM_000038.6(APC):c.6717CTC[1] (p.Ser2242del)
|
rs1766283239
|
|
NM_000038.6(APC):c.675A>G (p.Glu225=)
|
rs2149684305
|
|
NM_000038.6(APC):c.6855T>G (p.Val2285=)
|
rs1057524550
|
|
NM_000038.6(APC):c.6907G>A (p.Gly2303Arg)
|
rs544549596
|
|
NM_000038.6(APC):c.6932G>C (p.Arg2311Thr)
|
rs878853468
|
|
NM_000038.6(APC):c.7079G>A (p.Gly2360Asp)
|
rs750960862
|
|
NM_000038.6(APC):c.729+21G>C
|
|
|
NM_000038.6(APC):c.7297G>A (p.Glu2433Lys)
|
rs1766439260
|
|
NM_000038.6(APC):c.730-14C>G
|
|
|
NM_000038.6(APC):c.730-38C>T
|
|
|
NM_000038.6(APC):c.7461C>G (p.Ser2487=)
|
rs1580682885
|
|
NM_000038.6(APC):c.7540A>T (p.Thr2514Ser)
|
rs545125246
|
|
NM_000038.6(APC):c.7575C>A (p.Arg2525=)
|
rs767974190
|
|
NM_000038.6(APC):c.75A>G (p.Gln25=)
|
rs876659361
|
|
NM_000038.6(APC):c.7832C>T (p.Thr2611Ile)
|
rs587778037
|
|
NM_000038.6(APC):c.7853A>G (p.Asn2618Ser)
|
rs1580687270
|
|
NM_000038.6(APC):c.7867A>G (p.Thr2623Ala)
|
rs1060503368
|
|
NM_000038.6(APC):c.7887C>A (p.Thr2629=)
|
|
|
NM_000038.6(APC):c.7887C>T (p.Thr2629=)
|
rs754051042
|
|
NM_000038.6(APC):c.7898G>T (p.Gly2633Val)
|
rs1766594323
|
|
NM_000038.6(APC):c.7969G>A (p.Val2657Ile)
|
rs769433536
|
|
NM_000038.6(APC):c.8043G>A (p.Pro2681=)
|
rs149347068
|
|
NM_000038.6(APC):c.8147T>A (p.Val2716Glu)
|
rs1766663996
|
|
NM_000038.6(APC):c.8209G>A (p.Glu2737Lys)
|
rs1766678816
|
|
NM_000038.6(APC):c.8245T>A (p.Ser2749Thr)
|
rs1064794391
|
|
NM_000038.6(APC):c.8319T>C (p.Pro2773=)
|
rs587780539
|
|
NM_000038.6(APC):c.834+19C>T
|
|
|
NM_000038.6(APC):c.834+36T>C
|
|
|
NM_000038.6(APC):c.834+4A>G
|
|
|
NM_000038.6(APC):c.8481A>G (p.Gly2827=)
|
rs1554089192
|
|
NM_000038.6(APC):c.867C>A (p.Ala289=)
|
|
|
NM_000038.6(APC):c.934-33G>A
|
|
|
NM_000038.6(APC):c.934-42A>G
|
|
|
NM_000038.6(APC):c.98A>T (p.His33Leu)
|
|
|
NM_000043.6(FAS):c.272A>G (p.Tyr91Cys)
|
|
|
NM_000043.6(FAS):c.335G>C (p.Gly112Ala)
|
|
|
NM_000043.6(FAS):c.586C>T (p.Gln196Ter)
|
|
|
NM_000051.4(ATM):c.-15C>T
|
rs1204830852
|
|
NM_000051.4(ATM):c.-1C>T
|
rs2078804456
|
|
NM_000051.4(ATM):c.-31+238G>A
|
|
|
NM_000051.4(ATM):c.1066-24A>G
|
|
|
NM_000051.4(ATM):c.1066-31del
|
rs35813860
|
|
NM_000051.4(ATM):c.1066-31dup
|
rs35813860
|
|
NM_000051.4(ATM):c.1066-32_1066-31del
|
|
|
NM_000051.4(ATM):c.1066-3C>T
|
rs1565378708
|
|
NM_000051.4(ATM):c.1190_1191del (p.Lys397fs)
|
rs2079998938
|
|
NM_000051.4(ATM):c.1236-3del
|
rs34325032
|
|
NM_000051.4(ATM):c.1236-3dup
|
rs34325032
|
|
NM_000051.4(ATM):c.1236-4_1236-3del
|
rs34325032
|
|
NM_000051.4(ATM):c.1236-4_1236-3dup
|
rs34325032
|
|
NM_000051.4(ATM):c.1264A>T (p.Lys422Ter)
|
rs1555070678
|
|
NM_000051.4(ATM):c.1290_1291del (p.Cys430_Glu431delinsTer)
|
rs587781598
|
|
NM_000051.4(ATM):c.1367T>A (p.Leu456Ter)
|
|
|
NM_000051.4(ATM):c.1381G>C (p.Glu461Gln)
|
|
|
NM_000051.4(ATM):c.1401C>T (p.Asp467=)
|
|
|
NM_000051.4(ATM):c.1446del (p.Lys482fs)
|
rs1060501670
|
|
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs)
|
rs587779817
|
|
NM_000051.4(ATM):c.1607+48AC[5]
|
|
|
NM_000051.4(ATM):c.1608-11T>G
|
|
|
NM_000051.4(ATM):c.1679A>G (p.Glu560Gly)
|
rs762476611
|
|
NM_000051.4(ATM):c.1802+28G>T
|
|
|
NM_000051.4(ATM):c.1802+33_1802+45del
|
|
|
NM_000051.4(ATM):c.1802+35_1802+36del
|
rs749339972
|
|
NM_000051.4(ATM):c.1802+36dup
|
|
|
NM_000051.4(ATM):c.1802+39T>C
|
|
|
NM_000051.4(ATM):c.1803-2A>G
|
rs1057517358
|
|
NM_000051.4(ATM):c.1803-35G>C
|
|
|
NM_000051.4(ATM):c.1803-9T>C
|
rs2135352230
|
|
NM_000051.4(ATM):c.185+24C>T
|
|
|
NM_000051.4(ATM):c.186-33G>A
|
|
|
NM_000051.4(ATM):c.186-40A>G
|
|
|
NM_000051.4(ATM):c.1898+2T>G
|
rs587782124
|
|
NM_000051.4(ATM):c.190T>G (p.Leu64Val)
|
|
|
NM_000051.4(ATM):c.2124+19del
|
rs35211268
|
|
NM_000051.4(ATM):c.2124+21A>T
|
|
|
NM_000051.4(ATM):c.2127T>G (p.Ile709Met)
|
rs56252953
|
|
NM_000051.4(ATM):c.214A>G (p.Thr72Ala)
|
rs1223998386
|
|
NM_000051.4(ATM):c.216A>G (p.Thr72=)
|
|
|
NM_000051.4(ATM):c.2223T>G (p.Tyr741Ter)
|
rs1057524111
|
|
NM_000051.4(ATM):c.2250+16C>G
|
rs2135395339
|
|
NM_000051.4(ATM):c.2250+29G>A
|
|
|
NM_000051.4(ATM):c.2251-18dup
|
rs730881284
|
|
NM_000051.4(ATM):c.2305G>A (p.Glu769Lys)
|
rs1591546453
|
|
NM_000051.4(ATM):c.2376+40A>G
|
|
|
NM_000051.4(ATM):c.2386A>C (p.Asn796His)
|
rs201793499
|
|
NM_000051.4(ATM):c.2421A>G (p.Leu807=)
|
|
|
NM_000051.4(ATM):c.2438A>C (p.Asn813Thr)
|
|
|
NM_000051.4(ATM):c.2442C>A (p.Asp814Glu)
|
rs3218695
|
|
NM_000051.4(ATM):c.2458A>T (p.Lys820Ter)
|
|
|
NM_000051.4(ATM):c.2467-48G>A
|
|
|
NM_000051.4(ATM):c.2512A>G (p.Met838Val)
|
rs1555082132
|
|
NM_000051.4(ATM):c.2547G>A (p.Val849=)
|
rs1060504262
|
|
NM_000051.4(ATM):c.2551G>C (p.Asp851His)
|
|
|
NM_000051.4(ATM):c.2565G>C (p.Met855Ile)
|
rs2081308163
|
|
NM_000051.4(ATM):c.2599A>C (p.Ser867Arg)
|
|
|
NM_000051.4(ATM):c.2638+24G>A
|
|
|
NM_000051.4(ATM):c.2638+7A>G
|
rs1555082379
|
|
NM_000051.4(ATM):c.2639-27_2639-22del
|
rs4987971
|
|
NM_000051.4(ATM):c.2639-30T>C
|
|
|
NM_000051.4(ATM):c.2639-30_2639-29del
|
|
|
NM_000051.4(ATM):c.2639-39G>A
|
|
|
NM_000051.4(ATM):c.2639-50A>G
|
|
|
NM_000051.4(ATM):c.2679A>G (p.Gln893=)
|
rs139316519
|
|
NM_000051.4(ATM):c.2716T>A (p.Leu906Met)
|
rs368047468
|
|
NM_000051.4(ATM):c.2761G>A (p.Ala921Thr)
|
rs1565419701
|
|
NM_000051.4(ATM):c.2805G>C (p.Thr935=)
|
rs55934812
|
|
NM_000051.4(ATM):c.2817C>G (p.Thr939=)
|
rs1555083440
|
|
NM_000051.4(ATM):c.2817C>T (p.Thr939=)
|
rs1555083440
|
|
NM_000051.4(ATM):c.2838+15A>G
|
|
|
NM_000051.4(ATM):c.2838+28_2838+29insA
|
|
|
NM_000051.4(ATM):c.2839-18del
|
|
|
NM_000051.4(ATM):c.2873A>G (p.Glu958Gly)
|
rs587778069
|
|
NM_000051.4(ATM):c.2921+2T>G
|
rs2135549026
|
|
NM_000051.4(ATM):c.2921+38G>C
|
|
|
NM_000051.4(ATM):c.2922-37C>A
|
|
|
NM_000051.4(ATM):c.2922-8del
|
rs373881770
|
|
NM_000051.4(ATM):c.2922-8dup
|
rs373881770
|
|
NM_000051.4(ATM):c.2922-9_2922-8del
|
|
|
NM_000051.4(ATM):c.2922-9_2922-8dup
|
|
|
NM_000051.4(ATM):c.2960G>A (p.Cys987Tyr)
|
rs1555085052
|
|
NM_000051.4(ATM):c.2983C>G (p.Leu995Val)
|
rs587779831
|
|
NM_000051.4(ATM):c.3051G>A (p.Gln1017=)
|
|
|
NM_000051.4(ATM):c.3061G>C (p.Val1021Leu)
|
|
|
NM_000051.4(ATM):c.3078-10T>G
|
rs2135564722
|
|
NM_000051.4(ATM):c.3078-12A>T
|
rs1555085749
|
|
NM_000051.4(ATM):c.3078-45T>C
|
|
|
NM_000051.4(ATM):c.3121G>A (p.Ala1041Thr)
|
rs748752687
|
|
NM_000051.4(ATM):c.3148C>T (p.Leu1050Phe)
|
|
|
NM_000051.4(ATM):c.3153+41T>A
|
|
|
NM_000051.4(ATM):c.3154-4G>A
|
rs199543313
|
|
NM_000051.4(ATM):c.3284+37T>A
|
|
|
NM_000051.4(ATM):c.3284+3A>G
|
rs1591610398
|
|
NM_000051.4(ATM):c.331+2T>G
|
rs1555055358
|
|
NM_000051.4(ATM):c.331+37C>T
|
|
|
NM_000051.4(ATM):c.331+48C>T
|
|
|
NM_000051.4(ATM):c.3352A>G (p.Thr1118Ala)
|
rs572564322
|
|
NM_000051.4(ATM):c.3376A>G (p.Lys1126Glu)
|
rs1310591343
|
|
NM_000051.4(ATM):c.3402+32_3402+34del
|
rs545376366
|
|
NM_000051.4(ATM):c.3402+39T>C
|
|
|
NM_000051.4(ATM):c.3402+45T>C
|
|
|
NM_000051.4(ATM):c.3403-15del
|
|
|
NM_000051.4(ATM):c.3403-15dup
|
rs1555091083
|
|
NM_000051.4(ATM):c.3403-16_3403-15dup
|
|
|
NM_000051.4(ATM):c.3482T>G (p.Val1161Gly)
|
|
|
NM_000051.4(ATM):c.3489C>T (p.Ser1163=)
|
rs864622097
|
|
NM_000051.4(ATM):c.3513G>T (p.Gln1171His)
|
rs757201878
|
|
NM_000051.4(ATM):c.3519G>C (p.Leu1173Phe)
|
rs1565442034
|
|
NM_000051.4(ATM):c.3577-46T>C
|
|
|
NM_000051.4(ATM):c.359T>C (p.Leu120Pro)
|
rs1555059081
|
|
NM_000051.4(ATM):c.3673C>T (p.Gln1225Ter)
|
rs1555092430
|
|
NM_000051.4(ATM):c.3712_3716del (p.Leu1238fs)
|
rs786201675
|
|
NM_000051.4(ATM):c.3746+27dup
|
|
|
NM_000051.4(ATM):c.3747-28C>A
|
|
|
NM_000051.4(ATM):c.3747-43A>T
|
|
|
NM_000051.4(ATM):c.3747-4T>C
|
|
|
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer)
|
rs587779834
|
|
NM_000051.4(ATM):c.3827A>G (p.Gln1276Arg)
|
rs770183693
|
|
NM_000051.4(ATM):c.3847_3848dup (p.Leu1283_Thr1284insTer)
|
|
|
NM_000051.4(ATM):c.3993+28C>A
|
|
|
NM_000051.4(ATM):c.3993+34C>G
|
|
|
NM_000051.4(ATM):c.3993+40G>T
|
|
|
NM_000051.4(ATM):c.3994-11_3994-4del
|
rs1060501665
|
|
NM_000051.4(ATM):c.3994-32A>G
|
|
|
NM_000051.4(ATM):c.3994-9C>T
|
rs767111803
|
|
NM_000051.4(ATM):c.4110-37A>T
|
|
|
NM_000051.4(ATM):c.4148C>A (p.Ser1383Ter)
|
rs141087784
|
|
NM_000051.4(ATM):c.4150C>A (p.His1384Asn)
|
rs876660576
|
|
NM_000051.4(ATM):c.4179C>A (p.Ile1393=)
|
rs775688446
|
|
NM_000051.4(ATM):c.4236+14A>C
|
|
|
NM_000051.4(ATM):c.4236+15_4236+17del
|
rs1064794349
|
|
NM_000051.4(ATM):c.4237-13_4237-10del
|
|
|
NM_000051.4(ATM):c.4237-29A>G
|
|
|
NM_000051.4(ATM):c.4237-31C>T
|
|
|
NM_000051.4(ATM):c.4237-37dup
|
|
|
NM_000051.4(ATM):c.4315C>G (p.Leu1439Val)
|
rs1591663019
|
|
NM_000051.4(ATM):c.4385C>T (p.Ala1462Val)
|
|
|
NM_000051.4(ATM):c.4416G>C (p.Leu1472Phe)
|
|
|
NM_000051.4(ATM):c.4437-14dup
|
rs730881290
|
|
NM_000051.4(ATM):c.4437-30T>G
|
|
|
NM_000051.4(ATM):c.4437-32GTT[3]
|
|
|
NM_000051.4(ATM):c.4564G>C (p.Gly1522Arg)
|
rs1064795495
|
|
NM_000051.4(ATM):c.4611+23A>G
|
|
|
NM_000051.4(ATM):c.4611+28G>A
|
|
|
NM_000051.4(ATM):c.4632_4635del (p.Lys1543_Tyr1544insTer)
|
rs1064794236
|
|
NM_000051.4(ATM):c.4635A>G (p.Leu1545=)
|
rs2135810263
|
|
NM_000051.4(ATM):c.4641A>C (p.Ile1547=)
|
|
|
NM_000051.4(ATM):c.4641A>G (p.Ile1547Met)
|
|
|
NM_000051.4(ATM):c.4776+19T>C
|
|
|
NM_000051.4(ATM):c.4776+43_4776+44del
|
|
|
NM_000051.4(ATM):c.478_482del (p.Ser160fs)
|
rs587780624
|
|
NM_000051.4(ATM):c.4901C>A (p.Ala1634Asp)
|
|
|
NM_000051.4(ATM):c.4909+11T>A
|
|
|
NM_000051.4(ATM):c.490T>C (p.Trp164Arg)
|
rs1060501699
|
|
NM_000051.4(ATM):c.496+18T>C
|
rs762171014
|
|
NM_000051.4(ATM):c.496+36T>C
|
|
|
NM_000051.4(ATM):c.497-46T>C
|
|
|
NM_000051.4(ATM):c.497-4del
|
rs768748099
|
|
NM_000051.4(ATM):c.497-4dup
|
rs768748099
|
|
NM_000051.4(ATM):c.497-5_497-4del
|
rs768748099
|
|
NM_000051.4(ATM):c.4975A>T (p.Ile1659Leu)
|
|
|
NM_000051.4(ATM):c.4988G>C (p.Gly1663Ala)
|
|
|
NM_000051.4(ATM):c.5005+21G>A
|
|
|
NM_000051.4(ATM):c.5005+42C>G
|
|
|
NM_000051.4(ATM):c.5006-49G>A
|
|
|
NM_000051.4(ATM):c.5006-50T>C
|
|
|
NM_000051.4(ATM):c.5178-25T>C
|
|
|
NM_000051.4(ATM):c.5229A>G (p.Thr1743=)
|
rs878853519
|
|
NM_000051.4(ATM):c.5232G>T (p.Lys1744Asn)
|
|
|
NM_000051.4(ATM):c.5320-33C>T
|
|
|
NM_000051.4(ATM):c.5320-48A>G
|
|
|
NM_000051.4(ATM):c.5326G>T (p.Glu1776Ter)
|
rs1555106321
|
|
NM_000051.4(ATM):c.5347_5350del (p.Glu1783fs)
|
rs2135927504
|
|
NM_000051.4(ATM):c.534T>G (p.Pro178=)
|
rs1060504293
|
|
NM_000051.4(ATM):c.5369A>T (p.Asp1790Val)
|
rs746945284
|
|
NM_000051.4(ATM):c.5405dup (p.His1802fs)
|
rs1555106452
|
|
NM_000051.4(ATM):c.5410A>C (p.Ile1804Leu)
|
|
|
NM_000051.4(ATM):c.5417_5422del (p.Ile1806_Lys1807del)
|
|
|
NM_000051.4(ATM):c.5496+24A>G
|
|
|
NM_000051.4(ATM):c.550A>G (p.Arg184Gly)
|
rs1555066377
|
|
NM_000051.4(ATM):c.5561_5568dup (p.Ser1857fs)
|
|
|
NM_000051.4(ATM):c.5561del (p.Thr1854fs)
|
|
|
NM_000051.4(ATM):c.5615G>A (p.Ser1872Asn)
|
rs761257154
|
|
NM_000051.4(ATM):c.5623C>A (p.Arg1875=)
|
rs376603775
|
|
NM_000051.4(ATM):c.5669_5674+1del
|
|
|
NM_000051.4(ATM):c.5675-48T>C
|
|
|
NM_000051.4(ATM):c.5675-4T>A
|
rs56075338
|
|
NM_000051.4(ATM):c.5677T>C (p.Ser1893Pro)
|
|
|
NM_000051.4(ATM):c.5748_5750del (p.Met1916_Arg1917delinsIle)
|
rs876659524
|
|
NM_000051.4(ATM):c.5762+1G>A
|
rs869312756
|
|
NM_000051.4(ATM):c.5762+26C>T
|
rs78330259
|
|
NM_000051.4(ATM):c.5887G>A (p.Asp1963Asn)
|
rs864622148
|
|
NM_000051.4(ATM):c.5919-12T>C
|
|
|
NM_000051.4(ATM):c.5961T>C (p.Ser1987=)
|
rs1060504265
|
|
NM_000051.4(ATM):c.6006+17C>T
|
|
|
NM_000051.4(ATM):c.6007-3C>G
|
rs2084583739
|
|
NM_000051.4(ATM):c.6095+26G>T
|
|
|
NM_000051.4(ATM):c.6095+47A>G
|
|
|
NM_000051.4(ATM):c.6100C>T (p.Arg2034Ter)
|
rs532480170
|
|
NM_000051.4(ATM):c.6114C>G (p.His2038Gln)
|
rs774993357
|
|
NM_000051.4(ATM):c.6293T>C (p.Leu2098Pro)
|
rs587780631
|
|
NM_000051.4(ATM):c.6298T>C (p.Tyr2100His)
|
rs1555114752
|
|
NM_000051.4(ATM):c.6343G>C (p.Val2115Leu)
|
rs587780634
|
|
NM_000051.4(ATM):c.6347+31dup
|
rs58978479
|
|
NM_000051.4(ATM):c.6347+38C>G
|
|
|
NM_000051.4(ATM):c.6347+47C>T
|
|
|
NM_000051.4(ATM):c.6348-19del
|
|
|
NM_000051.4(ATM):c.6348-44G>A
|
|
|
NM_000051.4(ATM):c.6381A>T (p.Ser2127=)
|
|
|
NM_000051.4(ATM):c.6404T>C (p.Leu2135Pro)
|
rs1591100266
|
|
NM_000051.4(ATM):c.6452+29T>G
|
|
|
NM_000051.4(ATM):c.6453-37_6453-34del
|
|
|
NM_000051.4(ATM):c.6498G>A (p.Val2166=)
|
rs746514937
|
|
NM_000051.4(ATM):c.6498_6499del (p.Tyr2167fs)
|
rs1060501707
|
|
NM_000051.4(ATM):c.6527T>G (p.Leu2176Trp)
|
rs1555117194
|
|
NM_000051.4(ATM):c.6572+26T>A
|
|
|
NM_000051.4(ATM):c.6573-25A>G
|
|
|
NM_000051.4(ATM):c.6573-30C>G
|
|
|
NM_000051.4(ATM):c.6573-34C>A
|
|
|
NM_000051.4(ATM):c.6573-34C>G
|
|
|
NM_000051.4(ATM):c.6573-36C>A
|
|
|
NM_000051.4(ATM):c.6573-36C>G
|
|
|
NM_000051.4(ATM):c.6573-41C>A
|
|
|
NM_000051.4(ATM):c.6573-41C>G
|
|
|
NM_000051.4(ATM):c.662+48C>T
|
|
|
NM_000051.4(ATM):c.662+8_662+12del
|
rs864622475
|
|
NM_000051.4(ATM):c.6622C>T (p.His2208Tyr)
|
rs1060501641
|
|
NM_000051.4(ATM):c.663-37C>T
|
|
|
NM_000051.4(ATM):c.666A>G (p.Gln222=)
|
|
|
NM_000051.4(ATM):c.6808-32G>A
|
|
|
NM_000051.4(ATM):c.6895T>C (p.Phe2299Leu)
|
rs1555119886
|
|
NM_000051.4(ATM):c.68G>A (p.Arg23Gln)
|
rs587779858
|
|
NM_000051.4(ATM):c.6975+20T>C
|
rs781322757
|
|
NM_000051.4(ATM):c.6975+22G>A
|
|
|
NM_000051.4(ATM):c.6975G>A (p.Ala2325=)
|
rs556778314
|
|
NM_000051.4(ATM):c.6983C>T (p.Pro2328Leu)
|
rs786202730
|
|
NM_000051.4(ATM):c.7057C>G (p.Pro2353Ala)
|
rs1591142717
|
|
NM_000051.4(ATM):c.7075A>C (p.Thr2359Pro)
|
|
|
NM_000051.4(ATM):c.7091C>A (p.Ala2364Glu)
|
|
|
NM_000051.4(ATM):c.72+22A>T
|
|
|
NM_000051.4(ATM):c.7200A>G (p.Arg2400=)
|
rs1060501534
|
|
NM_000051.4(ATM):c.7220C>T (p.Ser2407Leu)
|
|
|
NM_000051.4(ATM):c.7223C>T (p.Ser2408Leu)
|
rs730881315
|
|
NM_000051.4(ATM):c.7235A>G (p.Asn2412Ser)
|
rs786203311
|
|
NM_000051.4(ATM):c.7307+32G>A
|
|
|
NM_000051.4(ATM):c.7307+50_7307+51del
|
|
|
NM_000051.4(ATM):c.7338G>C (p.Glu2446Asp)
|
|
|
NM_000051.4(ATM):c.7367A>T (p.Lys2456Ile)
|
|
|
NM_000051.4(ATM):c.741del (p.Arg248fs)
|
|
|
NM_000051.4(ATM):c.7515+45_7515+46del
|
|
|
NM_000051.4(ATM):c.7515+47_7515+48insTTC
|
|
|
NM_000051.4(ATM):c.7516-9del
|
rs573494809
|
|
NM_000051.4(ATM):c.7516-9dup
|
rs573494809
|
|
NM_000051.4(ATM):c.7570G>A (p.Ala2524Thr)
|
rs769142993
|
|
NM_000051.4(ATM):c.7629_7629+4del
|
rs876660041
|
|
NM_000051.4(ATM):c.7630-41_7630-38del
|
|
|
NM_000051.4(ATM):c.763G>C (p.Gly255Arg)
|
rs770911662
|
|
NM_000051.4(ATM):c.7699_7702del (p.Asn2567fs)
|
rs1060501547
|
|
NM_000051.4(ATM):c.7789-25A>G
|
|
|
NM_000051.4(ATM):c.7848G>T (p.Met2616Ile)
|
|
|
NM_000051.4(ATM):c.785T>C (p.Leu262Ser)
|
rs864622163
|
|
NM_000051.4(ATM):c.7927+13dup
|
rs587781324
|
|
NM_000051.4(ATM):c.7928-54_7928-49del
|
|
|
NM_000051.4(ATM):c.7969A>C (p.Lys2657Gln)
|
|
|
NM_000051.4(ATM):c.8010+21G>A
|
|
|
NM_000051.4(ATM):c.8010+30dup
|
rs3218702
|
|
NM_000051.4(ATM):c.8010+33A>T
|
|
|
NM_000051.4(ATM):c.8010+38A>G
|
|
|
NM_000051.4(ATM):c.8010+46del
|
|
|
NM_000051.4(ATM):c.8014G>T (p.Asp2672Tyr)
|
rs1555127024
|
|
NM_000051.4(ATM):c.8050C>T (p.Gln2684Ter)
|
rs1555127102
|
|
NM_000051.4(ATM):c.8103A>G (p.Ile2701Met)
|
|
|
NM_000051.4(ATM):c.8122G>A (p.Asp2708Asn)
|
rs587782719
|
|
NM_000051.4(ATM):c.8146G>T (p.Val2716Phe)
|
rs730881385
|
|
NM_000051.4(ATM):c.8148T>C (p.Val2716=)
|
|
|
NM_000051.4(ATM):c.8152-19A>C
|
|
|
NM_000051.4(ATM):c.8211A>T (p.Thr2737=)
|
rs876660946
|
|
NM_000051.4(ATM):c.8268+39_8268+40del
|
|
|
NM_000051.4(ATM):c.8269-39G>T
|
|
|
NM_000051.4(ATM):c.8325C>T (p.Pro2775=)
|
|
|
NM_000051.4(ATM):c.8354A>G (p.Asp2785Gly)
|
rs1591248589
|
|
NM_000051.4(ATM):c.8395_8404del (p.Phe2799fs)
|
rs786202800
|
|
NM_000051.4(ATM):c.8418+28T>C
|
|
|
NM_000051.4(ATM):c.8418+47C>T
|
|
|
NM_000051.4(ATM):c.8419-24_8419-21del
|
|
|
NM_000051.4(ATM):c.8419-37A>G
|
|
|
NM_000051.4(ATM):c.8419-38_8419-37del
|
|
|
NM_000051.4(ATM):c.8419-54_8419-49del
|
|
|
NM_000051.4(ATM):c.8421G>A (p.Glu2807=)
|
rs1555137945
|
|
NM_000051.4(ATM):c.8584+1G>A
|
rs876658182
|
|
NM_000051.4(ATM):c.8584+9_8584+11del
|
rs1064794534
|
|
NM_000051.4(ATM):c.8599G>C (p.Gly2867Arg)
|
rs2137079086
|
|
NM_000051.4(ATM):c.8655dup (p.Val2886fs)
|
rs753961188
|
|
NM_000051.4(ATM):c.8672-22T>G
|
|
|
NM_000051.4(ATM):c.8681T>C (p.Phe2894Ser)
|
|
|
NM_000051.4(ATM):c.8698C>G (p.Leu2900Val)
|
|
|
NM_000051.4(ATM):c.8732C>T (p.Thr2911Ile)
|
rs794728018
|
|
NM_000051.4(ATM):c.875del (p.Pro292fs)
|
|
|
NM_000051.4(ATM):c.8786+40G>A
|
|
|
NM_000051.4(ATM):c.8787-25G>A
|
|
|
NM_000051.4(ATM):c.8787-28T>C
|
|
|
NM_000051.4(ATM):c.8823_8824del (p.Gln2942fs)
|
rs1555143538
|
|
NM_000051.4(ATM):c.8850+25_8850+26del
|
|
|
NM_000051.4(ATM):c.8850+28T>G
|
|
|
NM_000051.4(ATM):c.8939T>C (p.Leu2980Pro)
|
|
|
NM_000051.4(ATM):c.901+7del
|
|
|
NM_000051.4(ATM):c.9032T>G (p.Met3011Arg)
|
rs1555151804
|
|
NM_000051.4(ATM):c.9078C>T (p.Leu3026=)
|
rs901284125
|
|
NM_000051.4(ATM):c.9086G>T (p.Gly3029Val)
|
rs201199629
|
|
NM_000051.4(ATM):c.9135C>T (p.Leu3045=)
|
rs2137926498
|
|
NM_000051.4(ATM):c.9168G>A (p.Val3056=)
|
rs1591388522
|
|
NM_000051.4(ATM):c.923G>A (p.Trp308Ter)
|
rs1591510553
|
|
NM_000057.4(BLM):c.1544del (p.Asn515fs)
|
rs367543043
|
|
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs)
|
rs80359351
|
|
NM_000059.4(BRCA2):c.-37T>A
|
rs2138697690
|
|
NM_000059.4(BRCA2):c.-39-12_-39-10del
|
rs276174798
|
|
NM_000059.4(BRCA2):c.10028A>T (p.Glu3343Val)
|
|
|
NM_000059.4(BRCA2):c.10078A>G (p.Lys3360Glu)
|
rs1593202262
|
|
NM_000059.4(BRCA2):c.10119C>T (p.Pro3373=)
|
rs1555290047
|
|
NM_000059.4(BRCA2):c.10194G>A (p.Gln3398=)
|
rs1555290067
|
|
NM_000059.4(BRCA2):c.10211G>A (p.Cys3404Tyr)
|
rs587782614
|
|
NM_000059.4(BRCA2):c.10253_10256del (p.Ile3418fs)
|
rs80359259
|
|
NM_000059.4(BRCA2):c.1106A>G (p.Asn369Ser)
|
|
|
NM_000059.4(BRCA2):c.1115A>G (p.Asn372Ser)
|
rs876658943
|
|
NM_000059.4(BRCA2):c.1133G>A (p.Ser378Asn)
|
rs1593892009
|
|
NM_000059.4(BRCA2):c.1153A>G (p.Lys385Glu)
|
rs80358411
|
|
NM_000059.4(BRCA2):c.1166C>A (p.Pro389Gln)
|
rs397507263
|
|
NM_000059.4(BRCA2):c.1198C>G (p.Leu400Val)
|
rs1413065373
|
|
NM_000059.4(BRCA2):c.121C>T (p.Pro41Ser)
|
rs80358415
|
|
NM_000059.4(BRCA2):c.1233dup (p.Pro412fs)
|
rs80359270
|
|
NM_000059.4(BRCA2):c.1242dup (p.His415fs)
|
|
|
NM_000059.4(BRCA2):c.1305A>G (p.Arg435=)
|
rs2137469893
|
|
NM_000059.4(BRCA2):c.1310_1313del (p.Lys437fs)
|
rs80359277
|
|
NM_000059.4(BRCA2):c.1354C>T (p.Leu452=)
|
rs80358424
|
|
NM_000059.4(BRCA2):c.1364C>G (p.Ser455Ter)
|
rs2072410817
|
|
NM_000059.4(BRCA2):c.1388C>T (p.Thr463Ile)
|
rs151011453
|
|
NM_000059.4(BRCA2):c.145G>T (p.Glu49Ter)
|
rs80358435
|
|
NM_000059.4(BRCA2):c.1460C>A (p.Ala487Glu)
|
rs56390402
|
|
NM_000059.4(BRCA2):c.1545T>G (p.Thr515=)
|
rs786202158
|
|
NM_000059.4(BRCA2):c.1592A>C (p.Lys531Thr)
|
rs876658771
|
|
NM_000059.4(BRCA2):c.1610A>C (p.Glu537Ala)
|
rs2072417616
|
|
NM_000059.4(BRCA2):c.162CAA[1] (p.Asn56del)
|
rs11571587
|
|
NM_000059.4(BRCA2):c.1632T>G (p.Thr544=)
|
|
|
NM_000059.4(BRCA2):c.1670_1683del (p.Asn556_Leu557insTer)
|
rs397507600
|
|
NM_000059.4(BRCA2):c.1679A>G (p.Asn560Ser)
|
|
|
NM_000059.4(BRCA2):c.1730C>T (p.Ala577Val)
|
rs876661280
|
|
NM_000059.4(BRCA2):c.1773_1776del (p.Ile591fs)
|
rs80359304
|
|
NM_000059.4(BRCA2):c.1777G>T (p.Ala593Ser)
|
rs431825286
|
|
NM_000059.4(BRCA2):c.1805del (p.Gly602fs)
|
rs397507608
|
|
NM_000059.4(BRCA2):c.1813del (p.Ile605fs)
|
rs80359306
|
|
NM_000059.4(BRCA2):c.1813dup (p.Ile605fs)
|
rs80359306
|
|
NM_000059.4(BRCA2):c.1816C>A (p.Pro606Thr)
|
rs765924757
|
|
NM_000059.4(BRCA2):c.1854delinsAA (p.Gln619fs)
|
rs276174815
|
|
NM_000059.4(BRCA2):c.1883C>T (p.Pro628Leu)
|
|
|
NM_000059.4(BRCA2):c.1889C>A (p.Thr630Lys)
|
rs80358479
|
|
NM_000059.4(BRCA2):c.1909+21_1909+22del
|
|
|
NM_000059.4(BRCA2):c.1909+22del
|
rs276174816
|
|
NM_000059.4(BRCA2):c.1909+22dup
|
rs276174816
|
|
NM_000059.4(BRCA2):c.1909+9_1909+10del
|
rs527732001
|
|
NM_000059.4(BRCA2):c.1910-34C>A
|
|
|
NM_000059.4(BRCA2):c.1942T>C (p.Ser648Pro)
|
|
|
NM_000059.4(BRCA2):c.2025_2026del (p.Cys676fs)
|
rs886040402
|
|
NM_000059.4(BRCA2):c.2064T>C (p.Tyr688=)
|
|
|
NM_000059.4(BRCA2):c.2231C>G (p.Ser744Ter)
|
rs397507282
|
|
NM_000059.4(BRCA2):c.2271_2272del (p.Leu759fs)
|
rs886040420
|
|
NM_000059.4(BRCA2):c.2344C>T (p.Leu782=)
|
rs749810048
|
|
NM_000059.4(BRCA2):c.2361_2362dup (p.Gly788fs)
|
|
|
NM_000059.4(BRCA2):c.2376C>G (p.Tyr792Ter)
|
rs80358503
|
|
NM_000059.4(BRCA2):c.237A>C (p.Ile79=)
|
rs2138705128
|
|
NM_000059.4(BRCA2):c.2396A>G (p.Lys799Arg)
|
rs1555282656
|
|
NM_000059.4(BRCA2):c.2435del (p.Asn812fs)
|
rs80359329
|
|
NM_000059.4(BRCA2):c.2450del (p.Lys817fs)
|
rs80359331
|
|
NM_000059.4(BRCA2):c.2471T>G (p.Leu824Ter)
|
rs397507631
|
|
NM_000059.4(BRCA2):c.2542A>T (p.Lys848Ter)
|
|
|
NM_000059.4(BRCA2):c.2670del (p.Phe890fs)
|
rs1555282786
|
|
NM_000059.4(BRCA2):c.2758C>A (p.Pro920Thr)
|
rs397507293
|
|
NM_000059.4(BRCA2):c.2803G>C (p.Asp935His)
|
rs28897716
|
|
NM_000059.4(BRCA2):c.2828T>C (p.Ile943Thr)
|
rs2137490364
|
|
NM_000059.4(BRCA2):c.3071_3073del (p.Ile1024del)
|
rs754836679
|
|
NM_000059.4(BRCA2):c.3084A>C (p.Lys1028Asn)
|
rs1555283043
|
|
NM_000059.4(BRCA2):c.316+32A>G
|
|
|
NM_000059.4(BRCA2):c.3170_3174del (p.Lys1057fs)
|
rs80359373
|
|
NM_000059.4(BRCA2):c.3263C>T (p.Pro1088Leu)
|
rs876660365
|
|
NM_000059.4(BRCA2):c.3315T>C (p.Pro1105=)
|
rs2137495376
|
|
NM_000059.4(BRCA2):c.3318C>G (p.Ser1106Arg)
|
rs1298550035
|
|
NM_000059.4(BRCA2):c.3385C>T (p.Gln1129Ter)
|
rs1555283209
|
|
NM_000059.4(BRCA2):c.340C>A (p.His114Asn)
|
rs587778129
|
|
NM_000059.4(BRCA2):c.3426del (p.Phe1142fs)
|
|
|
NM_000059.4(BRCA2):c.3483T>C (p.Asp1161=)
|
rs2137497052
|
|
NM_000059.4(BRCA2):c.3503T>A (p.Met1168Lys)
|
rs80358598
|
|
NM_000059.4(BRCA2):c.3599_3600del (p.Asp1199_Cys1200insTer)
|
rs80359391
|
|
NM_000059.4(BRCA2):c.3614C>A (p.Ser1205Tyr)
|
|
|
NM_000059.4(BRCA2):c.3615T>C (p.Ser1205=)
|
rs769677997
|
|
NM_000059.4(BRCA2):c.365C>G (p.Thr122Ser)
|
rs2137446441
|
|
NM_000059.4(BRCA2):c.3668A>G (p.His1223Arg)
|
rs398122768
|
|
NM_000059.4(BRCA2):c.3751dup (p.Thr1251fs)
|
rs397507683
|
|
NM_000059.4(BRCA2):c.3759A>G (p.Ala1253=)
|
|
|
NM_000059.4(BRCA2):c.3762G>T (p.Glu1254Asp)
|
rs777028631
|
|
NM_000059.4(BRCA2):c.3772A>G (p.Ile1258Val)
|
rs587782720
|
|
NM_000059.4(BRCA2):c.3786A>T (p.Ser1262=)
|
rs1042077901
|
|
NM_000059.4(BRCA2):c.37G>T (p.Glu13Ter)
|
rs80358622
|
|
NM_000059.4(BRCA2):c.3836A>G (p.Asn1279Ser)
|
rs1060502384
|
|
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs)
|
rs80359405
|
|
NM_000059.4(BRCA2):c.3952G>A (p.Glu1318Lys)
|
|
|
NM_000059.4(BRCA2):c.4079A>C (p.Asp1360Ala)
|
|
|
NM_000059.4(BRCA2):c.4090A>C (p.Ile1364Leu)
|
rs56248502
|
|
NM_000059.4(BRCA2):c.4095T>A (p.Cys1365Ter)
|
rs80358658
|
|
NM_000059.4(BRCA2):c.4126G>A (p.Gly1376Arg)
|
|
|
NM_000059.4(BRCA2):c.4126G>C (p.Gly1376Arg)
|
|
|
NM_000059.4(BRCA2):c.4127G>A (p.Gly1376Glu)
|
rs780458959
|
|
NM_000059.4(BRCA2):c.4139_4140dup (p.Lys1381fs)
|
rs276174842
|
|
NM_000059.4(BRCA2):c.4143AGA[1] (p.Glu1382del)
|
rs80359432
|
|
NM_000059.4(BRCA2):c.4307T>C (p.Ile1436Thr)
|
rs746472081
|
|
NM_000059.4(BRCA2):c.4320A>C (p.Lys1440Asn)
|
rs769535925
|
|
NM_000059.4(BRCA2):c.4383C>G (p.Ser1461=)
|
rs2137505715
|
|
NM_000059.4(BRCA2):c.4411A>T (p.Arg1471Ter)
|
rs1555283772
|
|
NM_000059.4(BRCA2):c.4470A>T (p.Ile1490=)
|
rs1593902461
|
|
NM_000059.4(BRCA2):c.44_45insATT (p.Ile14_Phe15insLeu)
|
rs80359445
|
|
NM_000059.4(BRCA2):c.4513A>G (p.Thr1505Ala)
|
rs80358682
|
|
NM_000059.4(BRCA2):c.4523G>T (p.Gly1508Val)
|
|
|
NM_000059.4(BRCA2):c.4563A>T (p.Leu1521=)
|
rs206075
|
|
NM_000059.4(BRCA2):c.4567G>A (p.Gly1523Ser)
|
rs587781418
|
|
NM_000059.4(BRCA2):c.4578dup (p.Ala1527fs)
|
|
|
NM_000059.4(BRCA2):c.4626G>T (p.Val1542=)
|
rs772004723
|
|
NM_000059.4(BRCA2):c.4631del (p.Asn1544fs)
|
rs80359460
|
|
NM_000059.4(BRCA2):c.4633C>T (p.Leu1545Phe)
|
rs1566230846
|
|
NM_000059.4(BRCA2):c.4657A>G (p.Thr1553Ala)
|
|
|
NM_000059.4(BRCA2):c.4696A>G (p.Thr1566Ala)
|
rs1555283904
|
|
NM_000059.4(BRCA2):c.469_470del (p.Lys157fs)
|
rs397507739
|
|
NM_000059.4(BRCA2):c.4736C>T (p.Ala1579Val)
|
rs1555283920
|
|
NM_000059.4(BRCA2):c.475+1G>A
|
rs81002797
|
|
NM_000059.4(BRCA2):c.476-17C>T
|
|
|
NM_000059.4(BRCA2):c.476-7C>A
|
|
|
NM_000059.4(BRCA2):c.4782G>T (p.Met1594Ile)
|
rs876658930
|
|
NM_000059.4(BRCA2):c.4792C>G (p.Leu1598Val)
|
|
|
NM_000059.4(BRCA2):c.4957A>G (p.Thr1653Ala)
|
rs587782186
|
|
NM_000059.4(BRCA2):c.4966A>C (p.Thr1656Pro)
|
|
|
NM_000059.4(BRCA2):c.4967C>T (p.Thr1656Ile)
|
rs876659777
|
|
NM_000059.4(BRCA2):c.5021G>C (p.Ser1674Thr)
|
rs876660602
|
|
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs)
|
rs80359479
|
|
NM_000059.4(BRCA2):c.5095G>A (p.Asp1699Asn)
|
rs80358731
|
|
NM_000059.4(BRCA2):c.5146_5149del (p.Tyr1716fs)
|
rs276174854
|
|
NM_000059.4(BRCA2):c.516+14del
|
rs1336445194
|
|
NM_000059.4(BRCA2):c.516+43G>A
|
|
|
NM_000059.4(BRCA2):c.5169T>C (p.Thr1723=)
|
rs1555284091
|
|
NM_000059.4(BRCA2):c.516G>A (p.Lys172=)
|
rs80359790
|
|
NM_000059.4(BRCA2):c.517-20A>G
|
rs1555281029
|
|
NM_000059.4(BRCA2):c.517-42A>G
|
|
|
NM_000059.4(BRCA2):c.517-5C>G
|
rs2137451850
|
|
NM_000059.4(BRCA2):c.517-7C>T
|
rs2137451844
|
|
NM_000059.4(BRCA2):c.5180dup (p.Asn1727fs)
|
rs80359491
|
|
NM_000059.4(BRCA2):c.5191C>T (p.His1731Tyr)
|
rs80358745
|
|
NM_000059.4(BRCA2):c.5206_5207del (p.Gln1736fs)
|
|
|
NM_000059.4(BRCA2):c.5210A>T (p.Asp1737Val)
|
rs587778120
|
|
NM_000059.4(BRCA2):c.5213_5216del (p.Thr1738fs)
|
rs80359493
|
|
NM_000059.4(BRCA2):c.5237C>T (p.Ser1746Phe)
|
rs2137515447
|
|
NM_000059.4(BRCA2):c.5238dup (p.Asn1747Ter)
|
rs80359499
|
|
NM_000059.4(BRCA2):c.5272_5274del (p.Asn1758del)
|
rs587780655
|
|
NM_000059.4(BRCA2):c.5297A>G (p.Asn1766Ser)
|
|
|
NM_000059.4(BRCA2):c.5351del (p.Asn1784fs)
|
rs80359507
|
|
NM_000059.4(BRCA2):c.5351dup (p.Asn1784fs)
|
rs80359507
|
|
NM_000059.4(BRCA2):c.5352del (p.Asn1784fs)
|
rs398122531
|
|
NM_000059.4(BRCA2):c.5437C>A (p.Leu1813Ile)
|
rs1555284228
|
|
NM_000059.4(BRCA2):c.5474C>G (p.Ala1825Gly)
|
rs397507352
|
|
NM_000059.4(BRCA2):c.5494T>C (p.Ser1832Pro)
|
rs1555284247
|
|
NM_000059.4(BRCA2):c.5576_5579del (p.Ile1859fs)
|
rs80359520
|
|
NM_000059.4(BRCA2):c.5593A>G (p.Ile1865Val)
|
rs587781455
|
|
NM_000059.4(BRCA2):c.5596T>C (p.Phe1866Leu)
|
rs80358779
|
|
NM_000059.4(BRCA2):c.5606G>A (p.Ser1869Asn)
|
rs1555284296
|
|
NM_000059.4(BRCA2):c.5621_5624del (p.Ile1874fs)
|
rs80359526
|
|
NM_000059.4(BRCA2):c.5625G>T (p.Lys1875Asn)
|
rs1316343192
|
|
NM_000059.4(BRCA2):c.5634C>T (p.Asn1878=)
|
rs80358784
|
|
NM_000059.4(BRCA2):c.565G>T (p.Asp189Tyr)
|
rs1555281067
|
|
NM_000059.4(BRCA2):c.5682C>T (p.Tyr1894=)
|
rs41293497
|
|
NM_000059.4(BRCA2):c.5722_5723del (p.Leu1908fs)
|
rs80359530
|
|
NM_000059.4(BRCA2):c.5754_5755del (p.His1918fs)
|
rs397507803
|
|
NM_000059.4(BRCA2):c.575T>C (p.Met192Thr)
|
rs80358805
|
|
NM_000059.4(BRCA2):c.5773C>A (p.Gln1925Lys)
|
rs80358806
|
|
NM_000059.4(BRCA2):c.5835A>T (p.Ile1945=)
|
|
|
NM_000059.4(BRCA2):c.5924G>A (p.Cys1975Tyr)
|
rs767378196
|
|
NM_000059.4(BRCA2):c.6051A>C (p.Lys2017Asn)
|
|
|
NM_000059.4(BRCA2):c.6068_6072del (p.Asp2023fs)
|
rs80359555
|
|
NM_000059.4(BRCA2):c.6078_6079del (p.Glu2028fs)
|
rs80359557
|
|
NM_000059.4(BRCA2):c.6080G>A (p.Arg2027Lys)
|
rs431825337
|
|
NM_000059.4(BRCA2):c.6082_6086del (p.Glu2028fs)
|
rs80359558
|
|
NM_000059.4(BRCA2):c.614G>C (p.Ser205Thr)
|
|
|
NM_000059.4(BRCA2):c.6154_6155del (p.Ser2052fs)
|
|
|
NM_000059.4(BRCA2):c.6160G>A (p.Ala2054Thr)
|
rs80358855
|
|
NM_000059.4(BRCA2):c.6164T>A (p.Phe2055Tyr)
|
|
|
NM_000059.4(BRCA2):c.6170G>T (p.Gly2057Val)
|
rs876660308
|
|
NM_000059.4(BRCA2):c.6182C>T (p.Ala2061Val)
|
|
|
NM_000059.4(BRCA2):c.6221A>G (p.His2074Arg)
|
|
|
NM_000059.4(BRCA2):c.6304G>A (p.Val2102Ile)
|
rs80358869
|
|
NM_000059.4(BRCA2):c.631+7A>G
|
rs431825339
|
|
NM_000059.4(BRCA2):c.632-27C>G
|
|
|
NM_000059.4(BRCA2):c.6373del (p.Thr2125fs)
|
rs80359577
|
|
NM_000059.4(BRCA2):c.6440_6443del (p.His2147fs)
|
|
|
NM_000059.4(BRCA2):c.6476A>G (p.Gln2159Arg)
|
rs763486267
|
|
NM_000059.4(BRCA2):c.6486_6489del (p.Lys2162fs)
|
rs80359598
|
|
NM_000059.4(BRCA2):c.6489dup (p.Gln2164fs)
|
|
|
NM_000059.4(BRCA2):c.6513G>C (p.Val2171=)
|
rs206076
|
|
NM_000059.4(BRCA2):c.6513G>T (p.Val2171=)
|
rs206076
|
|
NM_000059.4(BRCA2):c.6523G>C (p.Glu2175Gln)
|
rs876658412
|
|
NM_000059.4(BRCA2):c.6536T>C (p.Val2179Ala)
|
|
|
NM_000059.4(BRCA2):c.6641dup (p.Tyr2215fs)
|
rs80359613
|
|
NM_000059.4(BRCA2):c.67+1G>A
|
rs81002796
|
|
NM_000059.4(BRCA2):c.67+1G>T
|
rs81002796
|
|
NM_000059.4(BRCA2):c.67+39_67+43del
|
|
|
NM_000059.4(BRCA2):c.6711TGA[1] (p.Asp2238del)
|
rs786202738
|
|
NM_000059.4(BRCA2):c.6728C>G (p.Ser2243Cys)
|
rs876659031
|
|
NM_000059.4(BRCA2):c.6747C>T (p.Ala2249=)
|
rs786201405
|
|
NM_000059.4(BRCA2):c.6764C>T (p.Thr2255Ile)
|
|
|
NM_000059.4(BRCA2):c.68-7del
|
rs276174878
|
|
NM_000059.4(BRCA2):c.68-7dup
|
rs276174878
|
|
NM_000059.4(BRCA2):c.682-12_682-11del
|
rs276174879
|
|
NM_000059.4(BRCA2):c.682-27A>C
|
|
|
NM_000059.4(BRCA2):c.6823G>A (p.Glu2275Lys)
|
rs587782362
|
|
NM_000059.4(BRCA2):c.6830T>C (p.Leu2277Pro)
|
|
|
NM_000059.4(BRCA2):c.6905A>T (p.Lys2302Ile)
|
rs1212600749
|
|
NM_000059.4(BRCA2):c.6916G>C (p.Ala2306Pro)
|
rs730881550
|
|
NM_000059.4(BRCA2):c.6938-45del
|
|
|
NM_000059.4(BRCA2):c.6952C>T (p.Arg2318Ter)
|
rs80358920
|
|
NM_000059.4(BRCA2):c.6958T>C (p.Leu2320=)
|
rs1438402956
|
|
NM_000059.4(BRCA2):c.7006dup (p.Arg2336fs)
|
rs886040683
|
|
NM_000059.4(BRCA2):c.7007+9T>C
|
rs1566237887
|
|
NM_000059.4(BRCA2):c.7008-20A>G
|
rs81002903
|
|
NM_000059.4(BRCA2):c.7043A>G (p.Asn2348Ser)
|
rs747817752
|
|
NM_000059.4(BRCA2):c.7069_7070del (p.Leu2357fs)
|
rs80359636
|
|
NM_000059.4(BRCA2):c.7177dup (p.Met2393fs)
|
rs397507899
|
|
NM_000059.4(BRCA2):c.7188G>A (p.Leu2396=)
|
rs587780871
|
|
NM_000059.4(BRCA2):c.721A>T (p.Lys241Ter)
|
rs876659100
|
|
NM_000059.4(BRCA2):c.7312G>A (p.Asp2438Asn)
|
rs776936973
|
|
NM_000059.4(BRCA2):c.7312G>T (p.Asp2438Tyr)
|
rs776936973
|
|
NM_000059.4(BRCA2):c.7331A>T (p.Asp2444Val)
|
rs431825352
|
|
NM_000059.4(BRCA2):c.755_758del (p.Asp252fs)
|
rs80359659
|
|
NM_000059.4(BRCA2):c.7562T>C (p.Ile2521Thr)
|
rs80358984
|
|
NM_000059.4(BRCA2):c.7581A>G (p.Val2527=)
|
rs1409888455
|
|
NM_000059.4(BRCA2):c.7610A>G (p.His2537Arg)
|
rs80358988
|
|
NM_000059.4(BRCA2):c.7617+1G>A
|
rs397507922
|
|
NM_000059.4(BRCA2):c.7618-21G>T
|
rs376957350
|
|
NM_000059.4(BRCA2):c.7618-43_7618-39del
|
rs772312421
|
|
NM_000059.4(BRCA2):c.7690A>C (p.Thr2564Pro)
|
rs2072709406
|
|
NM_000059.4(BRCA2):c.771_775del (p.Asn257fs)
|
rs80359671
|
|
NM_000059.4(BRCA2):c.7796A>G (p.Glu2599Gly)
|
rs780715340
|
|
NM_000059.4(BRCA2):c.7805+17G>A
|
rs371300428
|
|
NM_000059.4(BRCA2):c.7806-15C>T
|
rs1555286802
|
|
NM_000059.4(BRCA2):c.7857G>A (p.Trp2619Ter)
|
rs80359011
|
|
NM_000059.4(BRCA2):c.7872T>C (p.Tyr2624=)
|
rs863224468
|
|
NM_000059.4(BRCA2):c.7875A>G (p.Arg2625=)
|
rs2137577015
|
|
NM_000059.4(BRCA2):c.7895C>A (p.Ala2632Glu)
|
|
|
NM_000059.4(BRCA2):c.790C>A (p.His264Asn)
|
rs1450949342
|
|
NM_000059.4(BRCA2):c.7913_7917del (p.Ala2637_Phe2638insTer)
|
rs80359686
|
|
NM_000059.4(BRCA2):c.793+35TTG[3]
|
rs765056110
|
|
NM_000059.4(BRCA2):c.794-45A>G
|
|
|
NM_000059.4(BRCA2):c.794-49T>C
|
|
|
NM_000059.4(BRCA2):c.7954G>A (p.Val2652Met)
|
rs1466452770
|
|
NM_000059.4(BRCA2):c.7964A>G (p.Gln2655Arg)
|
rs80359024
|
|
NM_000059.4(BRCA2):c.7974C>T (p.Tyr2658=)
|
rs80359025
|
|
NM_000059.4(BRCA2):c.7976G>A (p.Arg2659Lys)
|
rs80359027
|
|
NM_000059.4(BRCA2):c.7977-1G>C
|
rs81002874
|
|
NM_000059.4(BRCA2):c.7977-37C>T
|
|
|
NM_000059.4(BRCA2):c.7987G>A (p.Glu2663Lys)
|
rs80359030
|
|
NM_000059.4(BRCA2):c.7988A>T (p.Glu2663Val)
|
rs80359031
|
|
NM_000059.4(BRCA2):c.805dup (p.Thr269fs)
|
rs886040744
|
|
NM_000059.4(BRCA2):c.8084C>T (p.Ser2695Leu)
|
rs80359048
|
|
NM_000059.4(BRCA2):c.8165C>G (p.Thr2722Arg)
|
rs80359062
|
|
NM_000059.4(BRCA2):c.8198A>T (p.Asp2733Val)
|
|
|
NM_000059.4(BRCA2):c.8331+2T>C
|
rs398122602
|
|
NM_000059.4(BRCA2):c.8332-28A>G
|
rs377320530
|
|
NM_000059.4(BRCA2):c.8332-44T>C
|
|
|
NM_000059.4(BRCA2):c.8369C>T (p.Thr2790Ile)
|
|
|
NM_000059.4(BRCA2):c.8398C>T (p.Pro2800Ser)
|
rs80359086
|
|
NM_000059.4(BRCA2):c.8399C>A (p.Pro2800His)
|
rs80359087
|
|
NM_000059.4(BRCA2):c.8433T>G (p.Asp2811Glu)
|
|
|
NM_000059.4(BRCA2):c.8460A>G (p.Val2820=)
|
rs9590940
|
|
NM_000059.4(BRCA2):c.8487+39T>C
|
rs2137598446
|
|
NM_000059.4(BRCA2):c.8487+47C>A
|
rs11571744
|
|
NM_000059.4(BRCA2):c.8487+47C>T
|
rs11571744
|
|
NM_000059.4(BRCA2):c.8487+49A>G
|
|
|
NM_000059.4(BRCA2):c.8488-40T>C
|
|
|
NM_000059.4(BRCA2):c.8488-5T>C
|
rs533806629
|
|
NM_000059.4(BRCA2):c.8536G>T (p.Glu2846Ter)
|
rs886040781
|
|
NM_000059.4(BRCA2):c.8562T>C (p.Tyr2854=)
|
rs786201333
|
|
NM_000059.4(BRCA2):c.8576A>G (p.Gln2859Arg)
|
|
|
NM_000059.4(BRCA2):c.860T>A (p.Met287Lys)
|
rs2072398884
|
|
NM_000059.4(BRCA2):c.8632+15A>G
|
rs1566249455
|
|
NM_000059.4(BRCA2):c.8632+9A>C
|
|
|
NM_000059.4(BRCA2):c.8638_8647del (p.Thr2880fs)
|
|
|
NM_000059.4(BRCA2):c.8699A>T (p.Asp2900Val)
|
rs398122712
|
|
NM_000059.4(BRCA2):c.8730del (p.Asn2910fs)
|
rs397508004
|
|
NM_000059.4(BRCA2):c.8754+19AT[3]
|
rs878853613
|
|
NM_000059.4(BRCA2):c.8754+3G>C
|
rs397508007
|
|
NM_000059.4(BRCA2):c.8755-8G>A
|
rs764986193
|
|
NM_000059.4(BRCA2):c.8837_8841del (p.Leu2946fs)
|
|
|
NM_000059.4(BRCA2):c.8842_8849del (p.Ile2948fs)
|
|
|
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn)
|
rs28897754
|
|
NM_000059.4(BRCA2):c.8931T>A (p.Tyr2977Ter)
|
rs886040801
|
|
NM_000059.4(BRCA2):c.8953+24T>C
|
|
|
NM_000059.4(BRCA2):c.8954-5_8954-2del
|
rs587782878
|
|
NM_000059.4(BRCA2):c.9021A>G (p.Arg3007=)
|
|
|
NM_000059.4(BRCA2):c.9026_9030del (p.Tyr3009fs)
|
rs80359741
|
|
NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs)
|
rs397507419
|
|
NM_000059.4(BRCA2):c.9104A>C (p.Tyr3035Ser)
|
rs80359165
|
|
NM_000059.4(BRCA2):c.9117+34A>G
|
|
|
NM_000059.4(BRCA2):c.9117+47A>T
|
|
|
NM_000059.4(BRCA2):c.9205T>G (p.Cys3069Gly)
|
rs398122611
|
|
NM_000059.4(BRCA2):c.9253dup (p.Thr3085fs)
|
rs80359752
|
|
NM_000059.4(BRCA2):c.9256+14_9256+19del
|
rs1555288595
|
|
NM_000059.4(BRCA2):c.9256+28del
|
rs751714705
|
|
NM_000059.4(BRCA2):c.9257-8C>T
|
rs11571819
|
|
NM_000059.4(BRCA2):c.9257G>C (p.Gly3086Ala)
|
rs574271678
|
|
NM_000059.4(BRCA2):c.9364G>A (p.Ala3122Thr)
|
rs587782313
|
|
NM_000059.4(BRCA2):c.9408del (p.Thr3137fs)
|
rs80359761
|
|
NM_000059.4(BRCA2):c.9437T>C (p.Phe3146Ser)
|
rs786202000
|
|
NM_000059.4(BRCA2):c.9458G>T (p.Gly3153Val)
|
rs80359220
|
|
NM_000059.4(BRCA2):c.9501+35G>T
|
|
|
NM_000059.4(BRCA2):c.9580_9581del (p.Pro3194fs)
|
rs80359771
|
|
NM_000059.4(BRCA2):c.9613G>T (p.Ala3205Ser)
|
|
|
NM_000059.4(BRCA2):c.9621C>A (p.Ile3207=)
|
|
|
NM_000059.4(BRCA2):c.9649-6T>A
|
|
|
NM_000059.4(BRCA2):c.9839C>G (p.Pro3280Arg)
|
rs80359246
|
|
NM_000059.4(BRCA2):c.9945del (p.Glu3316fs)
|
rs431825381
|
|
NM_000059.4(BRCA2):c.994del (p.Ile332fs)
|
rs80359777
|
|
NM_000061.3(BTK):c.1111T>C (p.Ser371Pro)
|
|
|
NM_000063.6(C2):c.841_849+19del
|
rs9332736
|
|
NM_000064.4(C3):c.1686+22T>G
|
|
|
NM_000064.4(C3):c.1687-22G>A
|
|
|
NM_000064.4(C3):c.1774C>T (p.Arg592Trp)
|
|
|
NM_000075.4(CDK4):c.-19-9_-19-8del
|
rs1378433780
|
|
NM_000075.4(CDK4):c.102C>G (p.Leu34=)
|
rs758515796
|
|
NM_000075.4(CDK4):c.180G>A (p.Leu60=)
|
rs1555201367
|
|
NM_000075.4(CDK4):c.218+35A>T
|
|
|
NM_000075.4(CDK4):c.310C>A (p.Leu104Met)
|
rs759535768
|
|
NM_000075.4(CDK4):c.355-40C>G
|
|
|
NM_000075.4(CDK4):c.369G>T (p.Gln123His)
|
rs1955231243
|
|
NM_000075.4(CDK4):c.479G>T (p.Gly160Val)
|
|
|
NM_000075.4(CDK4):c.48C>T (p.Ala16=)
|
|
|
NM_000075.4(CDK4):c.523-36C>T
|
|
|
NM_000075.4(CDK4):c.590T>C (p.Met197Thr)
|
rs975342748
|
|
NM_000075.4(CDK4):c.647G>C (p.Gly216Ala)
|
rs1955206366
|
|
NM_000075.4(CDK4):c.683+48T>G
|
|
|
NM_000075.4(CDK4):c.684-4A>G
|
rs370609910
|
|
NM_000075.4(CDK4):c.752C>G (p.Pro251Arg)
|
rs143670820
|
|
NM_000075.4(CDK4):c.819+18G>A
|
rs2140382516
|
|
NM_000075.4(CDK4):c.819+39_819+40del
|
rs3211623
|
|
NM_000075.4(CDK4):c.819+43G>T
|
|
|
NM_000075.4(CDK4):c.819+50G>C
|
|
|
NM_000075.4(CDK4):c.819+50_819+53del
|
|
|
NM_000075.4(CDK4):c.851T>C (p.Ile284Thr)
|
rs751365131
|
|
NM_000077.5(CDKN2A):c.*7C>A
|
|
|
NM_000077.5(CDKN2A):c.-16GGCGGCGGGGAGCAGCATGGAGCC[1] (p.Ala4_Pro11del)
|
rs587780668
|
|
NM_000077.5(CDKN2A):c.-22G>T
|
|
|
NM_000077.5(CDKN2A):c.-8G>A
|
rs1563893014
|
|
NM_000077.5(CDKN2A):c.150+25G>T
|
|
|
NM_000077.5(CDKN2A):c.150+40C>G
|
|
|
NM_000077.5(CDKN2A):c.151-45T>C
|
|
|
NM_000077.5(CDKN2A):c.151-49G>A
|
|
|
NM_000077.5(CDKN2A):c.278C>T (p.Thr93Met)
|
|
|
NM_000077.5(CDKN2A):c.301G>C (p.Gly101Arg)
|
rs104894094
|
|
NM_000077.5(CDKN2A):c.301G>T (p.Gly101Trp)
|
rs104894094
|
|
NM_000077.5(CDKN2A):c.369T>A (p.His123Gln)
|
rs6413463
|
|
NM_000077.5(CDKN2A):c.370C>T (p.Arg124Cys)
|
rs34170727
|
|
NM_000077.5(CDKN2A):c.373G>A (p.Asp125Asn)
|
rs146179135
|
|
NM_000077.5(CDKN2A):c.457+42C>G
|
|
|
NM_000077.5(CDKN2A):c.59C>T (p.Ala20Val)
|
rs864622484
|
|
NM_000085.5(CLCNKB):c.371C>G (p.Pro124Arg)
|
|
|
NM_000090.4(COL3A1):c.798+1G>A
|
rs587779463
|
|
NM_000093.5(COL5A1):c.3582+18A>G
|
|
|
NM_000094.4(COL7A1):c.6696dup (p.Gly2233fs)
|
rs749256529
|
|
NM_000095.3(COMP):c.2048G>T (p.Arg683Leu)
|
|
|
NM_000129.4(F13A1):c.1349C>T (p.Thr450Ile)
|
|
|
NM_000130.5(F5):c.449A>G (p.Tyr150Cys)
|
|
|
NM_000132.4(F8):c.2098T>C (p.Ser700Pro)
|
|
|
NM_000132.4(F8):c.2138A>T (p.Asn713Ile)
|
|
|
NM_000132.4(F8):c.5587-93C>T
|
rs1264918703
|
|
NM_000133.4(F9):c.1304G>A (p.Cys435Tyr)
|
rs1385141619
|
|
NM_000133.4(F9):c.676C>T (p.Arg226Trp)
|
rs137852240
|
|
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs)
|
rs397507552
|
|
NM_000135.4(FANCA):c.3G>A (p.Met1Ile)
|
|
|
NM_000143.4(FH):c.*14A>G
|
|
|
NM_000143.4(FH):c.*2T>C
|
|
|
NM_000143.4(FH):c.-31C>T
|
|
|
NM_000143.4(FH):c.1061G>C (p.Gly354Ala)
|
rs1057523184
|
|
NM_000143.4(FH):c.106T>G (p.Phe36Val)
|
rs2147926878
|
|
NM_000143.4(FH):c.1224C>A (p.Phe408Leu)
|
|
|
NM_000143.4(FH):c.1236+23A>G
|
|
|
NM_000143.4(FH):c.1237-12_1237-11del
|
|
|
NM_000143.4(FH):c.1237-16T>A
|
|
|
NM_000143.4(FH):c.1237-50TC[13]
|
|
|
NM_000143.4(FH):c.1237-50TC[14]
|
|
|
NM_000143.4(FH):c.1237-50TC[15]
|
rs144131869
|
|
NM_000143.4(FH):c.1237-50TC[16]
|
rs144131869
|
|
NM_000143.4(FH):c.1237-50TC[17]
|
rs144131869
|
|
NM_000143.4(FH):c.1237-50TC[18]
|
rs144131869
|
|
NM_000143.4(FH):c.1237-50TC[20]
|
rs144131869
|
|
NM_000143.4(FH):c.1237-50TC[21]
|
rs144131869
|
|
NM_000143.4(FH):c.1237-50TC[22]
|
rs144131869
|
|
NM_000143.4(FH):c.1237-50TC[23]
|
rs144131869
|
|
NM_000143.4(FH):c.1237-50TC[24]
|
rs144131869
|
|
NM_000143.4(FH):c.1237-50TC[25]
|
rs144131869
|
|
NM_000143.4(FH):c.1237-50TC[26]
|
rs144131869
|
|
NM_000143.4(FH):c.1237-50TC[27]
|
rs144131869
|
|
NM_000143.4(FH):c.1237-50TC[28]
|
rs144131869
|
|
NM_000143.4(FH):c.1237-50TC[29]
|
rs144131869
|
|
NM_000143.4(FH):c.132+35A>G
|
rs1660315752
|
|
NM_000143.4(FH):c.1326A>G (p.Thr442=)
|
rs2147913140
|
|
NM_000143.4(FH):c.133-30C>T
|
|
|
NM_000143.4(FH):c.1379A>G (p.Asn460Ser)
|
rs767253363
|
|
NM_000143.4(FH):c.1390+17T>C
|
|
|
NM_000143.4(FH):c.1390+36G>A
|
|
|
NM_000143.4(FH):c.1390+50C>T
|
|
|
NM_000143.4(FH):c.1391-18T>G
|
|
|
NM_000143.4(FH):c.1391-19C>G
|
|
|
NM_000143.4(FH):c.1391-22C>T
|
|
|
NM_000143.4(FH):c.1391-6C>A
|
|
|
NM_000143.4(FH):c.1391G>A (p.Gly464Glu)
|
rs1131691250
|
|
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup)
|
rs367543046
|
|
NM_000143.4(FH):c.1499G>A (p.Trp500Ter)
|
rs2147911203
|
|
NM_000143.4(FH):c.151C>A (p.Arg51=)
|
rs778678782
|
|
NM_000143.4(FH):c.166A>G (p.Thr56Ala)
|
rs1232573732
|
|
NM_000143.4(FH):c.186G>A (p.Val62=)
|
|
|
NM_000143.4(FH):c.216C>T (p.Thr72=)
|
rs1341995835
|
|
NM_000143.4(FH):c.267+10A>G
|
|
|
NM_000143.4(FH):c.273A>G (p.Pro91=)
|
|
|
NM_000143.4(FH):c.378+50C>T
|
|
|
NM_000143.4(FH):c.40dup (p.Leu14fs)
|
rs1060500900
|
|
NM_000143.4(FH):c.473G>A (p.Ser158Asn)
|
rs1060500902
|
|
NM_000143.4(FH):c.555+22dup
|
rs569920379
|
|
NM_000143.4(FH):c.555+4A>G
|
rs776240700
|
|
NM_000143.4(FH):c.612T>G (p.His204Gln)
|
rs1424868653
|
|
NM_000143.4(FH):c.62C>T (p.Ala21Val)
|
rs1131691251
|
|
NM_000143.4(FH):c.698G>T (p.Arg233Leu)
|
rs121913123
|
|
NM_000143.4(FH):c.705T>C (p.His235=)
|
rs919993170
|
|
NM_000143.4(FH):c.722C>T (p.Pro241Leu)
|
rs1553341319
|
|
NM_000143.4(FH):c.904+21T>A
|
|
|
NM_000143.4(FH):c.905-16T>A
|
|
|
NM_000143.4(FH):c.92C>T (p.Ala31Val)
|
rs876659347
|
|
NM_000143.4(FH):c.941C>G (p.Ala314Gly)
|
rs1659856002
|
|
NM_000143.4(FH):c.949G>A (p.Ala317Thr)
|
|
|
NM_000143.4(FH):c.952C>T (p.His318Tyr)
|
rs398123168
|
|
NM_000146.4(FTL):c.-160A>G
|
rs398124633
|
|
NM_000169.3(GLA):c.169C>T (p.Gln57Ter)
|
rs869312259
|
|
NM_000173.7(GP1BA):c.104del (p.Lys35fs)
|
rs1555549041
|
|
NM_000173.7(GP1BA):c.1903C>T (p.Arg635Cys)
|
|
|
NM_000173.7(GP1BA):c.272C>T (p.Thr91Met)
|
|
|
NM_000173.7(GP1BA):c.58T>G (p.Cys20Gly)
|
rs2151107661
|
|
NM_000175.5(GPI):c.1022A>G (p.Tyr341Cys)
|
|
|
NM_000176.3(NR3C1):c.250C>G (p.Leu84Val)
|
|
|
NM_000179.3(MSH6):c.*23A>G
|
|
|
NM_000179.3(MSH6):c.*24_*28del
|
rs587779200
|
|
NM_000179.3(MSH6):c.-17C>G
|
rs370816858
|
|
NM_000179.3(MSH6):c.-25C>G
|
|
|
NM_000179.3(MSH6):c.-6G>T
|
rs730881822
|
|
NM_000179.3(MSH6):c.1002G>A (p.Lys334=)
|
|
|
NM_000179.3(MSH6):c.1025C>T (p.Ala342Val)
|
rs753617680
|
|
NM_000179.3(MSH6):c.1176T>A (p.Asp392Glu)
|
rs587779912
|
|
NM_000179.3(MSH6):c.1336G>T (p.Glu446Ter)
|
rs1669321230
|
|
NM_000179.3(MSH6):c.146C>T (p.Ala49Val)
|
rs775498550
|
|
NM_000179.3(MSH6):c.1479G>A (p.Glu493=)
|
|
|
NM_000179.3(MSH6):c.1483C>T (p.Arg495Ter)
|
rs587779212
|
|
NM_000179.3(MSH6):c.1511A>G (p.Lys504Arg)
|
|
|
NM_000179.3(MSH6):c.1519dup (p.Arg507fs)
|
rs876658881
|
|
NM_000179.3(MSH6):c.153C>T (p.Ser51=)
|
rs762061869
|
|
NM_000179.3(MSH6):c.1561A>T (p.Thr521Ser)
|
rs587779916
|
|
NM_000179.3(MSH6):c.157G>T (p.Ala53Ser)
|
rs2103939250
|
|
NM_000179.3(MSH6):c.159T>G (p.Ala53=)
|
|
|
NM_000179.3(MSH6):c.165T>G (p.Pro55=)
|
rs1553408290
|
|
NM_000179.3(MSH6):c.1747A>G (p.Arg583Gly)
|
rs1558662808
|
|
NM_000179.3(MSH6):c.1777del (p.Gln593fs)
|
|
|
NM_000179.3(MSH6):c.1823T>C (p.Ile608Thr)
|
rs1553413208
|
|
NM_000179.3(MSH6):c.1825C>G (p.Leu609Val)
|
rs1426910114
|
|
NM_000179.3(MSH6):c.1868C>G (p.Pro623Arg)
|
|
|
NM_000179.3(MSH6):c.1907C>G (p.Thr636Ser)
|
rs1553413281
|
|
NM_000179.3(MSH6):c.2045C>T (p.Ser682Phe)
|
rs587779225
|
|
NM_000179.3(MSH6):c.2064C>G (p.Val688=)
|
rs1057524297
|
|
NM_000179.3(MSH6):c.2084T>C (p.Leu695Pro)
|
rs2104387817
|
|
NM_000179.3(MSH6):c.2117T>G (p.Phe706Cys)
|
rs587779231
|
|
NM_000179.3(MSH6):c.2150_2153del (p.Val717fs)
|
rs267608058
|
|
NM_000179.3(MSH6):c.218A>C (p.Asn73Thr)
|
|
|
NM_000179.3(MSH6):c.2194C>T (p.Arg732Ter)
|
rs63751127
|
|
NM_000179.3(MSH6):c.2222dup (p.Asn741fs)
|
|
|
NM_000179.3(MSH6):c.2230dup (p.Glu744fs)
|
rs786201050
|
|
NM_000179.3(MSH6):c.2261C>T (p.Thr754Ile)
|
rs1669440639
|
|
NM_000179.3(MSH6):c.2282G>A (p.Arg761Lys)
|
rs587779233
|
|
NM_000179.3(MSH6):c.2291C>T (p.Thr764Ile)
|
rs561198849
|
|
NM_000179.3(MSH6):c.2407G>C (p.Asp803His)
|
rs1553413770
|
|
NM_000179.3(MSH6):c.2488T>G (p.Ser830Ala)
|
rs1572727368
|
|
NM_000179.3(MSH6):c.2530dup (p.Met844fs)
|
|
|
NM_000179.3(MSH6):c.2558A>G (p.Lys853Arg)
|
|
|
NM_000179.3(MSH6):c.255C>A (p.Pro85=)
|
rs587779242
|
|
NM_000179.3(MSH6):c.260+15del
|
rs1553408495
|
|
NM_000179.3(MSH6):c.261-14C>T
|
rs369366445
|
|
NM_000179.3(MSH6):c.2635_2653delinsTAAATCCTTAAGTTAAGTT (p.Ala879_Lys885delinsTer)
|
|
|
NM_000179.3(MSH6):c.265G>A (p.Asp89Asn)
|
rs1668683890
|
|
NM_000179.3(MSH6):c.2689A>C (p.Asn897His)
|
|
|
NM_000179.3(MSH6):c.2689A>T (p.Asn897Tyr)
|
rs1064794771
|
|
NM_000179.3(MSH6):c.2764C>T (p.Arg922Ter)
|
rs587779246
|
|
NM_000179.3(MSH6):c.2783C>A (p.Thr928Asn)
|
rs781482454
|
|
NM_000179.3(MSH6):c.2796del (p.Phe933fs)
|
rs2104424501
|
|
NM_000179.3(MSH6):c.2809T>C (p.Tyr937His)
|
|
|
NM_000179.3(MSH6):c.2849G>C (p.Ser950Thr)
|
|
|
NM_000179.3(MSH6):c.2945C>G (p.Pro982Arg)
|
rs2104432331
|
|
NM_000179.3(MSH6):c.294C>A (p.Ala98=)
|
|
|
NM_000179.3(MSH6):c.2982C>A (p.Tyr994Ter)
|
|
|
NM_000179.3(MSH6):c.2996C>A (p.Thr999Asn)
|
rs1064794488
|
|
NM_000179.3(MSH6):c.3013C>T (p.Arg1005Ter)
|
rs63750563
|
|
NM_000179.3(MSH6):c.3029C>G (p.Thr1010Ser)
|
rs768925694
|
|
NM_000179.3(MSH6):c.3059A>G (p.Asn1020Ser)
|
rs1669544206
|
|
NM_000179.3(MSH6):c.3067G>T (p.Glu1023Ter)
|
rs267608059
|
|
NM_000179.3(MSH6):c.3104G>A (p.Arg1035Gln)
|
rs730881801
|
|
NM_000179.3(MSH6):c.3150T>C (p.Ala1050=)
|
rs776990271
|
|
NM_000179.3(MSH6):c.3151G>A (p.Val1051Ile)
|
rs576269342
|
|
NM_000179.3(MSH6):c.3157T>C (p.Cys1053Arg)
|
rs2104443174
|
|
NM_000179.3(MSH6):c.3173-18T>A
|
rs189672273
|
|
NM_000179.3(MSH6):c.3173-41C>A
|
|
|
NM_000179.3(MSH6):c.3173-44dup
|
rs757801692
|
|
NM_000179.3(MSH6):c.3215G>A (p.Gly1072Asp)
|
rs781243845
|
|
NM_000179.3(MSH6):c.3217C>G (p.Pro1073Ala)
|
rs142254875
|
|
NM_000179.3(MSH6):c.3220A>G (p.Met1074Val)
|
rs730881804
|
|
NM_000179.3(MSH6):c.3221del (p.Met1074fs)
|
rs267608090
|
|
NM_000179.3(MSH6):c.3246G>A (p.Pro1082=)
|
rs3136351
|
|
NM_000179.3(MSH6):c.3246G>T (p.Pro1082=)
|
rs3136351
|
|
NM_000179.3(MSH6):c.3258C>A (p.Pro1086=)
|
rs863224331
|
|
NM_000179.3(MSH6):c.3259C>T (p.Pro1087Ser)
|
rs63750998
|
|
NM_000179.3(MSH6):c.3260C>A (p.Pro1087His)
|
rs63750753
|
|
NM_000179.3(MSH6):c.3260C>G (p.Pro1087Arg)
|
rs63750753
|
|
NM_000179.3(MSH6):c.3261del (p.Phe1088fs)
|
rs267608078
|
|
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs)
|
rs267608078
|
|
NM_000179.3(MSH6):c.3299C>T (p.Thr1100Met)
|
rs63750442
|
|
NM_000179.3(MSH6):c.334A>G (p.Asn112Asp)
|
rs864622397
|
|
NM_000179.3(MSH6):c.3384T>C (p.Tyr1128=)
|
rs544518097
|
|
NM_000179.3(MSH6):c.3416del (p.Gly1139fs)
|
rs587781544
|
|
NM_000179.3(MSH6):c.3429T>C (p.Leu1143=)
|
rs562766087
|
|
NM_000179.3(MSH6):c.3438+13dup
|
rs267608097
|
|
NM_000179.3(MSH6):c.3438+16del
|
rs1396782652
|
|
NM_000179.3(MSH6):c.3439-26_3439-25del
|
rs750310368
|
|
NM_000179.3(MSH6):c.3439-35C>A
|
|
|
NM_000179.3(MSH6):c.3439-8A>G
|
rs863224332
|
|
NM_000179.3(MSH6):c.3532_3533insTATG (p.Gly1178fs)
|
|
|
NM_000179.3(MSH6):c.3546AAT[1] (p.Ile1183del)
|
rs751279985
|
|
NM_000179.3(MSH6):c.3556+13T>C
|
rs1669884662
|
|
NM_000179.3(MSH6):c.3556+24A>G
|
|
|
NM_000179.3(MSH6):c.3556+36_3556+39del
|
rs55684722
|
|
NM_000179.3(MSH6):c.3557-49A>C
|
|
|
NM_000179.3(MSH6):c.3557-4del
|
rs267608102
|
|
NM_000179.3(MSH6):c.3557-4dup
|
rs267608102
|
|
NM_000179.3(MSH6):c.3557-5_3557-4del
|
|
|
NM_000179.3(MSH6):c.3557-5_3557-4dup
|
rs267608102
|
|
NM_000179.3(MSH6):c.3589A>G (p.Thr1197Ala)
|
|
|
NM_000179.3(MSH6):c.3609_3612del (p.His1203fs)
|
rs587779274
|
|
NM_000179.3(MSH6):c.3646+48T>G
|
|
|
NM_000179.3(MSH6):c.3647-11_3647-6del
|
rs1670035485
|
|
NM_000179.3(MSH6):c.3647-1G>A
|
rs587779279
|
|
NM_000179.3(MSH6):c.3647-2A>C
|
rs267608111
|
|
NM_000179.3(MSH6):c.3647-32_3647-29dup
|
|
|
NM_000179.3(MSH6):c.3647-38C>T
|
|
|
NM_000179.3(MSH6):c.3647-48_3647-44del
|
|
|
NM_000179.3(MSH6):c.3652G>C (p.Gly1218Arg)
|
rs776407427
|
|
NM_000179.3(MSH6):c.3664T>G (p.Phe1222Val)
|
rs775265464
|
|
NM_000179.3(MSH6):c.3697_3733dup (p.Phe1245Ter)
|
|
|
NM_000179.3(MSH6):c.3710A>C (p.Glu1237Ala)
|
rs2104540805
|
|
NM_000179.3(MSH6):c.3734T>C (p.Phe1245Ser)
|
|
|
NM_000179.3(MSH6):c.3747C>T (p.Tyr1249=)
|
rs1057520326
|
|
NM_000179.3(MSH6):c.3758T>A (p.Val1253Glu)
|
rs202066386
|
|
NM_000179.3(MSH6):c.3799_3800del (p.Met1267fs)
|
rs267608114
|
|
NM_000179.3(MSH6):c.3799dup (p.Met1267fs)
|
|
|
NM_000179.3(MSH6):c.3801+15T>C
|
rs779720344
|
|
NM_000179.3(MSH6):c.3801+23C>T
|
|
|
NM_000179.3(MSH6):c.3801+40G>A
|
|
|
NM_000179.3(MSH6):c.3801+47C>T
|
|
|
NM_000179.3(MSH6):c.3802-29A>G
|
rs752342663
|
|
NM_000179.3(MSH6):c.3839A>C (p.Gln1280Pro)
|
rs1210663110
|
|
NM_000179.3(MSH6):c.3847_3850dup (p.Thr1284fs)
|
rs267608128
|
|
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.3969T>C (p.Phe1323=)
|
rs1057520473
|
|
NM_000179.3(MSH6):c.3984_3987dup (p.Leu1330fs)
|
rs267608121
|
|
NM_000179.3(MSH6):c.3988C>T (p.Leu1330=)
|
rs768944975
|
|
NM_000179.3(MSH6):c.4001+27TAAC[3]
|
rs267608136
|
|
NM_000179.3(MSH6):c.4001+2T>C
|
rs267608131
|
|
NM_000179.3(MSH6):c.4001+2TAAC[2]
|
rs267608132
|
|
NM_000179.3(MSH6):c.4001+2TAAC[4]
|
rs267608132
|
|
NM_000179.3(MSH6):c.4001+41_4001+48dup
|
|
|
NM_000179.3(MSH6):c.4001+42_4001+45dup
|
rs587779304
|
|
NM_000179.3(MSH6):c.4001+42_4001+46dup
|
|
|
NM_000179.3(MSH6):c.4001+50_4001+51dup
|
rs199687113
|
|
NM_000179.3(MSH6):c.4001+8_4001+12dup
|
rs1424851908
|
|
NM_000179.3(MSH6):c.4001G>A (p.Arg1334Gln)
|
rs267608122
|
|
NM_000179.3(MSH6):c.4002-10del
|
rs59056100
|
|
NM_000179.3(MSH6):c.4002-10dup
|
rs59056100
|
|
NM_000179.3(MSH6):c.4002-11_4002-10del
|
rs59056100
|
|
NM_000179.3(MSH6):c.4002-11_4002-10dup
|
rs59056100
|
|
NM_000179.3(MSH6):c.4002-12_4002-10del
|
rs59056100
|
|
NM_000179.3(MSH6):c.4002-12_4002-10dup
|
rs59056100
|
|
NM_000179.3(MSH6):c.4002-13_4002-10del
|
|
|
NM_000179.3(MSH6):c.4002-14_4002-10del
|
|
|
NM_000179.3(MSH6):c.4002-15_4002-10del
|
|
|
NM_000179.3(MSH6):c.4002-26_4002-25insCTTT
|
rs1553333916
|
|
NM_000179.3(MSH6):c.4002-32_4002-29del
|
|
|
NM_000179.3(MSH6):c.4002-33A>C
|
|
|
NM_000179.3(MSH6):c.4002-44T>C
|
|
|
NM_000179.3(MSH6):c.4062_4065dup (p.Leu1356fs)
|
rs1553334056
|
|
NM_000179.3(MSH6):c.4064_*23dup (p.Leu1354_Ter1361=)
|
rs760782238
|
|
NM_000179.3(MSH6):c.4068_4071dup (p.Lys1358delinsAspTer)
|
rs55740729
|
|
NM_000179.3(MSH6):c.4071_*4dup (p.Ile1357_Ter1361=)
|
rs1491544951
|
|
NM_000179.3(MSH6):c.4077_4080dup (p.Ter1361IleextTer?)
|
rs575068534
|
|
NM_000179.3(MSH6):c.457+23G>A
|
|
|
NM_000179.3(MSH6):c.457+31_457+34del
|
|
|
NM_000179.3(MSH6):c.457+32TG[10]
|
rs397839804
|
|
NM_000179.3(MSH6):c.457+32TG[12]
|
rs397839804
|
|
NM_000179.3(MSH6):c.457+32TG[13]
|
|
|
NM_000179.3(MSH6):c.457+32TG[8]
|
rs397839804
|
|
NM_000179.3(MSH6):c.457+32TG[9]
|
rs397839804
|
|
NM_000179.3(MSH6):c.457+50T>A
|
|
|
NM_000179.3(MSH6):c.458-29T>G
|
|
|
NM_000179.3(MSH6):c.458-9del
|
rs1064796117
|
|
NM_000179.3(MSH6):c.461C>G (p.Ser154Ter)
|
rs1553411391
|
|
NM_000179.3(MSH6):c.473A>C (p.Glu158Ala)
|
|
|
NM_000179.3(MSH6):c.49C>T (p.Leu17=)
|
|
|
NM_000179.3(MSH6):c.606A>T (p.Pro202=)
|
|
|
NM_000179.3(MSH6):c.627+25_627+27del
|
rs560035113
|
|
NM_000179.3(MSH6):c.628-17C>A
|
rs369971640
|
|
NM_000179.3(MSH6):c.64A>G (p.Lys22Glu)
|
rs1060502897
|
|
NM_000179.3(MSH6):c.691G>C (p.Val231Leu)
|
rs1572719960
|
|
NM_000179.3(MSH6):c.742C>T (p.Arg248Ter)
|
rs63749980
|
|
NM_000179.3(MSH6):c.743G>A (p.Arg248Gln)
|
rs764870249
|
|
NM_000179.3(MSH6):c.773T>C (p.Ile258Thr)
|
rs1553412195
|
|
NM_000179.3(MSH6):c.806C>G (p.Thr269Ser)
|
rs587779322
|
|
NM_000179.3(MSH6):c.893G>A (p.Arg298Gln)
|
rs765237563
|
|
NM_000179.3(MSH6):c.926C>T (p.Ser309Phe)
|
rs544222338
|
|
NM_000179.3(MSH6):c.927T>C (p.Ser309=)
|
rs771288794
|
|
NM_000179.3(MSH6):c.928C>G (p.Leu310Val)
|
rs1060502900
|
|
NM_000179.3(MSH6):c.936_945del (p.Lys313fs)
|
|
|
NM_000179.3(MSH6):c.940A>T (p.Ser314Cys)
|
|
|
NM_000179.3(MSH6):c.97C>T (p.Arg33Cys)
|
rs730881811
|
|
NM_000179.3(MSH6):c.997dup (p.Thr333fs)
|
|
|
NM_000186.4(CFH):c.245-10_245-9dup
|
rs35507625
|
|
NM_000186.4(CFH):c.619+1G>A
|
|
|
NM_000188.3(HK1):c.586C>T (p.Arg196Ter)
|
|
|
NM_000196.4(HSD11B2):c.802+5G>C
|
|
|
NM_000204.5(CFI):c.1253A>T (p.His418Leu)
|
rs121964912
|
|
NM_000204.5(CFI):c.162C>G (p.Cys54Trp)
|
rs1553915717
|
|
NM_000204.5(CFI):c.563G>T (p.Gly188Val)
|
|
|
NM_000212.3(ITGB3):c.1192del (p.Ala398fs)
|
rs2143109249
|
|
NM_000212.3(ITGB3):c.1639T>G (p.Cys547Gly)
|
|
|
NM_000214.3(JAG1):c.712T>C (p.Cys238Arg)
|
|
|
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser)
|
rs61732874
|
|
NM_000245.4(MET):c.-14-12C>G
|
|
|
NM_000245.4(MET):c.-14-21G>A
|
|
|
NM_000245.4(MET):c.-14-26C>T
|
rs2116576794
|
|
NM_000245.4(MET):c.-14-35A>G
|
|
|
NM_000245.4(MET):c.1011G>A (p.Leu337=)
|
rs886061942
|
|
NM_000245.4(MET):c.1127A>G (p.Lys376Arg)
|
|
|
NM_000245.4(MET):c.1174C>A (p.Pro392Thr)
|
rs886061943
|
|
NM_000245.4(MET):c.1200+46A>C
|
|
|
NM_000245.4(MET):c.1232C>A (p.Ala411Glu)
|
|
|
NM_000245.4(MET):c.1276C>T (p.Arg426Cys)
|
rs774779741
|
|
NM_000245.4(MET):c.1285T>A (p.Leu429Ile)
|
rs911380470
|
|
NM_000245.4(MET):c.1354A>G (p.Ile452Val)
|
rs1793018926
|
|
NM_000245.4(MET):c.1363C>T (p.Leu455Phe)
|
rs780077898
|
|
NM_000245.4(MET):c.1392+21del
|
|
|
NM_000245.4(MET):c.1393-23G>A
|
|
|
NM_000245.4(MET):c.1428T>C (p.His476=)
|
rs1432416607
|
|
NM_000245.4(MET):c.1436T>C (p.Phe479Ser)
|
rs1793380587
|
|
NM_000245.4(MET):c.1527+33G>A
|
|
|
NM_000245.4(MET):c.1650A>G (p.Glu550=)
|
rs2116836870
|
|
NM_000245.4(MET):c.1701+56_1701+58del
|
|
|
NM_000245.4(MET):c.1701+56_1701+58dup
|
|
|
NM_000245.4(MET):c.1701+57_1701+58del
|
rs112241458
|
|
NM_000245.4(MET):c.1701+57_1701+58dup
|
rs112241458
|
|
NM_000245.4(MET):c.1701+58del
|
rs112241458
|
|
NM_000245.4(MET):c.1701+58dup
|
rs112241458
|
|
NM_000245.4(MET):c.1702-24A>T
|
|
|
NM_000245.4(MET):c.1702-25del
|
|
|
NM_000245.4(MET):c.1838C>T (p.Thr613Ile)
|
|
|
NM_000245.4(MET):c.1862+48T>G
|
|
|
NM_000245.4(MET):c.1863-11T>C
|
rs2116919514
|
|
NM_000245.4(MET):c.1896G>A (p.Lys632=)
|
rs749484691
|
|
NM_000245.4(MET):c.1966-23T>C
|
|
|
NM_000245.4(MET):c.1966-29A>T
|
rs2116922475
|
|
NM_000245.4(MET):c.1966-36A>G
|
|
|
NM_000245.4(MET):c.2102+50G>C
|
|
|
NM_000245.4(MET):c.2214C>T (p.Tyr738=)
|
|
|
NM_000245.4(MET):c.2265-21T>C
|
|
|
NM_000245.4(MET):c.2285G>A (p.Gly762Asp)
|
rs1060503541
|
|
NM_000245.4(MET):c.2308G>A (p.Val770Ile)
|
|
|
NM_000245.4(MET):c.2364+39A>G
|
|
|
NM_000245.4(MET):c.2365-14G>A
|
rs769247886
|
|
NM_000245.4(MET):c.2434C>G (p.Gln812Glu)
|
rs398123568
|
|
NM_000245.4(MET):c.2583+45T>G
|
rs768994279
|
|
NM_000245.4(MET):c.2583+50G>T
|
|
|
NM_000245.4(MET):c.2584-10_2584-9del
|
rs57349036
|
|
NM_000245.4(MET):c.2584-11_2584-9del
|
|
|
NM_000245.4(MET):c.2584-22T>A
|
|
|
NM_000245.4(MET):c.2584-24_2584-23del
|
|
|
NM_000245.4(MET):c.2584-38del
|
|
|
NM_000245.4(MET):c.2584-7del
|
rs587780736
|
|
NM_000245.4(MET):c.2584-9del
|
rs57349036
|
|
NM_000245.4(MET):c.2584-9dup
|
rs57349036
|
|
NM_000245.4(MET):c.2630T>G (p.Val877Gly)
|
|
|
NM_000245.4(MET):c.2638A>G (p.Lys880Glu)
|
rs2116983288
|
|
NM_000245.4(MET):c.2694T>C (p.Asn898=)
|
|
|
NM_000245.4(MET):c.2887+49T>G
|
|
|
NM_000245.4(MET):c.2887+5A>T
|
rs752292538
|
|
NM_000245.4(MET):c.2888-22C>T
|
|
|
NM_000245.4(MET):c.2888-27A>G
|
|
|
NM_000245.4(MET):c.2959C>G (p.Arg987Gly)
|
|
|
NM_000245.4(MET):c.3028+18G>A
|
|
|
NM_000245.4(MET):c.3029-45T>C
|
|
|
NM_000245.4(MET):c.3041A>G (p.Asn1014Ser)
|
rs2117029538
|
|
NM_000245.4(MET):c.3260-43T>A
|
|
|
NM_000245.4(MET):c.3260-43T>C
|
|
|
NM_000245.4(MET):c.3281A>C (p.His1094Pro)
|
rs121913243
|
|
NM_000245.4(MET):c.3286A>G (p.Thr1096Ala)
|
rs2117039915
|
|
NM_000245.4(MET):c.3317A>G (p.His1106Arg)
|
|
|
NM_000245.4(MET):c.3341-49A>G
|
|
|
NM_000245.4(MET):c.3399T>C (p.Asp1133=)
|
rs2117046045
|
|
NM_000245.4(MET):c.3478A>G (p.Met1160Val)
|
rs1554399597
|
|
NM_000245.4(MET):c.3523-10T>C
|
rs2117059286
|
|
NM_000245.4(MET):c.3523-48G>A
|
|
|
NM_000245.4(MET):c.356C>A (p.Ala119Asp)
|
|
|
NM_000245.4(MET):c.3593A>G (p.Lys1198Arg)
|
rs2117060321
|
|
NM_000245.4(MET):c.3632+17C>G
|
rs758230781
|
|
NM_000245.4(MET):c.3632+17C>T
|
rs758230781
|
|
NM_000245.4(MET):c.3632+44A>G
|
|
|
NM_000245.4(MET):c.3633-31C>A
|
|
|
NM_000245.4(MET):c.372C>G (p.Thr124=)
|
rs574911056
|
|
NM_000245.4(MET):c.3775_3776del (p.Lys1259fs)
|
rs2117067376
|
|
NM_000245.4(MET):c.3798+34T>C
|
|
|
NM_000245.4(MET):c.3798+9T>C
|
|
|
NM_000245.4(MET):c.3799-17G>A
|
|
|
NM_000245.4(MET):c.3935+26C>T
|
|
|
NM_000245.4(MET):c.3936-13_3936-10del
|
rs745366999
|
|
NM_000245.4(MET):c.4052A>G (p.His1351Arg)
|
rs1490801483
|
|
NM_000245.4(MET):c.4144C>T (p.Arg1382Ter)
|
rs200315561
|
|
NM_000245.4(MET):c.452C>T (p.Thr151Ile)
|
rs1584876832
|
|
NM_000245.4(MET):c.591A>G (p.Val197=)
|
|
|
NM_000245.4(MET):c.639G>C (p.Ser213=)
|
|
|
NM_000245.4(MET):c.732T>G (p.Ser244=)
|
rs770202229
|
|
NM_000245.4(MET):c.751C>G (p.His251Asp)
|
|
|
NM_000245.4(MET):c.955G>T (p.Ala319Ser)
|
rs545332056
|
|
NM_000249.4(MLH1):c.*32C>T
|
rs200903126
|
|
NM_000249.4(MLH1):c.*32CTT[1]
|
rs193922366
|
|
NM_000249.4(MLH1):c.1038+1G>A
|
rs267607816
|
|
NM_000249.4(MLH1):c.1039-10_1039-8del
|
rs57509953
|
|
NM_000249.4(MLH1):c.1039-11_1039-8del
|
rs57509953
|
|
NM_000249.4(MLH1):c.1039-11_1039-8dup
|
rs57509953
|
|
NM_000249.4(MLH1):c.1039-12_1039-8del
|
rs57509953
|
|
NM_000249.4(MLH1):c.1039-12_1039-8dup
|
|
|
NM_000249.4(MLH1):c.1039-13_1039-8del
|
rs57509953
|
|
NM_000249.4(MLH1):c.1039-14_1039-8del
|
rs57509953
|
|
NM_000249.4(MLH1):c.1039-28_1039-27insA
|
rs1491447529
|
|
NM_000249.4(MLH1):c.1039-28_1039-27insAAAATATATATATATA
|
|
|
NM_000249.4(MLH1):c.1039-29_1039-20del
|
rs2125878741
|
|
NM_000249.4(MLH1):c.1039-29_1039-21del
|
rs2125878729
|
|
NM_000249.4(MLH1):c.1039-29_1039-22del
|
rs1288220350
|
|
NM_000249.4(MLH1):c.1039-29_1039-23del
|
rs1391289170
|
|
NM_000249.4(MLH1):c.1039-29_1039-24del
|
rs1441824996
|
|
NM_000249.4(MLH1):c.1039-29_1039-25del
|
rs1327974119
|
|
NM_000249.4(MLH1):c.1039-29_1039-26del
|
rs1369115226
|
|
NM_000249.4(MLH1):c.1039-29_1039-27del
|
rs1559551269
|
|
NM_000249.4(MLH1):c.1039-30=
|
|
|
NM_000249.4(MLH1):c.1039-30_1039-29insTTTT
|
rs745689653
|
|
NM_000249.4(MLH1):c.1039-31_1039-22del
|
rs2125878535
|
|
NM_000249.4(MLH1):c.1039-31_1039-23del
|
rs1215063080
|
|
NM_000249.4(MLH1):c.1039-31_1039-24del
|
rs755745938
|
|
NM_000249.4(MLH1):c.1039-31_1039-25del
|
rs563315461
|
|
NM_000249.4(MLH1):c.1039-31_1039-26del
|
rs1178900468
|
|
NM_000249.4(MLH1):c.1039-31_1039-27del
|
rs1252143212
|
|
NM_000249.4(MLH1):c.1039-32=
|
|
|
NM_000249.4(MLH1):c.1039-33_1039-24del
|
rs1375788286
|
|
NM_000249.4(MLH1):c.1039-33_1039-25del
|
rs763206692
|
|
NM_000249.4(MLH1):c.1039-33_1039-26del
|
rs766706153
|
|
NM_000249.4(MLH1):c.1039-33_1039-27del
|
|
|
NM_000249.4(MLH1):c.1039-52TA[11]
|
rs1305207799
|
|
NM_000249.4(MLH1):c.1039-6dup
|
rs1553650466
|
|
NM_000249.4(MLH1):c.1039-8_1039-7insTA
|
rs535965616
|
|
NM_000249.4(MLH1):c.1039-8del
|
rs57509953
|
|
NM_000249.4(MLH1):c.1039-8dup
|
rs57509953
|
|
NM_000249.4(MLH1):c.1039-9_1039-8del
|
rs57509953
|
|
NM_000249.4(MLH1):c.1039-9_1039-8dup
|
rs57509953
|
|
NM_000249.4(MLH1):c.1103C>A (p.Ser368Ter)
|
|
|
NM_000249.4(MLH1):c.1117G>A (p.Gly373Arg)
|
rs766904735
|
|
NM_000249.4(MLH1):c.1136A>C (p.Tyr379Ser)
|
rs143009528
|
|
NM_000249.4(MLH1):c.116+1288T>C
|
|
|
NM_000249.4(MLH1):c.116+218T>A
|
|
|
NM_000249.4(MLH1):c.116+36T>A
|
|
|
NM_000249.4(MLH1):c.117-9A>G
|
rs1060504004
|
|
NM_000249.4(MLH1):c.1255A>G (p.Ile419Val)
|
rs781335662
|
|
NM_000249.4(MLH1):c.1404C>T (p.Asn468=)
|
rs1553651572
|
|
NM_000249.4(MLH1):c.1409+20G>T
|
rs761777923
|
|
NM_000249.4(MLH1):c.1409+23C>T
|
|
|
NM_000249.4(MLH1):c.1409+43G>A
|
|
|
NM_000249.4(MLH1):c.1409+47T>C
|
|
|
NM_000249.4(MLH1):c.1410-28G>T
|
|
|
NM_000249.4(MLH1):c.1553A>C (p.His518Pro)
|
|
|
NM_000249.4(MLH1):c.1558+17G>A
|
rs267607839
|
|
NM_000249.4(MLH1):c.1558+1G>A
|
rs267607832
|
|
NM_000249.4(MLH1):c.1620G>A (p.Leu540=)
|
rs786202409
|
|
NM_000249.4(MLH1):c.1624C>T (p.Gln542Ter)
|
rs63750192
|
|
NM_000249.4(MLH1):c.1655CCA[1] (p.Thr553del)
|
rs63751641
|
|
NM_000249.4(MLH1):c.1667+15T>C
|
rs1474788239
|
|
NM_000249.4(MLH1):c.1667+43A>G
|
|
|
NM_000249.4(MLH1):c.1667+9G>T
|
|
|
NM_000249.4(MLH1):c.1668-20_1668-19inv
|
|
|
NM_000249.4(MLH1):c.1668-36A>G
|
|
|
NM_000249.4(MLH1):c.1731+42G>A
|
|
|
NM_000249.4(MLH1):c.1732-2A>C
|
rs267607852
|
|
NM_000249.4(MLH1):c.1732-38G>A
|
|
|
NM_000249.4(MLH1):c.1783A>T (p.Ser595Cys)
|
rs876658763
|
|
NM_000249.4(MLH1):c.1812dup (p.Glu605fs)
|
rs63751240
|
|
NM_000249.4(MLH1):c.1846AAG[2] (p.Lys618del)
|
rs63751247
|
|
NM_000249.4(MLH1):c.1852_1853delinsGC (p.Lys618Ala)
|
rs35502531
|
|
NM_000249.4(MLH1):c.1853A>C (p.Lys618Thr)
|
rs63750449
|
|
NM_000249.4(MLH1):c.1853A>G (p.Lys618Arg)
|
rs63750449
|
|
NM_000249.4(MLH1):c.1873T>C (p.Tyr625His)
|
rs1413395234
|
|
NM_000249.4(MLH1):c.1896+18A>T
|
rs760744040
|
|
NM_000249.4(MLH1):c.1896+25T>C
|
rs2085328971
|
|
NM_000249.4(MLH1):c.1975C>T (p.Arg659Ter)
|
rs63751310
|
|
NM_000249.4(MLH1):c.1989+31G>A
|
|
|
NM_000249.4(MLH1):c.1990-39T>C
|
|
|
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr)
|
rs63750217
|
|
NM_000249.4(MLH1):c.2043T>C (p.Ala681=)
|
rs768595157
|
|
NM_000249.4(MLH1):c.2103+9G>A
|
rs776593087
|
|
NM_000249.4(MLH1):c.2103G>C (p.Gln701His)
|
rs63750603
|
|
NM_000249.4(MLH1):c.2105G>C (p.Ser702Thr)
|
rs973343336
|
|
NM_000249.4(MLH1):c.2110G>C (p.Val704Leu)
|
rs587781811
|
|
NM_000249.4(MLH1):c.242C>G (p.Thr81Ser)
|
rs63751069
|
|
NM_000249.4(MLH1):c.250A>G (p.Lys84Glu)
|
rs63750641
|
|
NM_000249.4(MLH1):c.299G>T (p.Arg100Leu)
|
rs63750266
|
|
NM_000249.4(MLH1):c.306+48A>T
|
|
|
NM_000249.4(MLH1):c.306+6_306+11del
|
|
|
NM_000249.4(MLH1):c.307-14C>A
|
rs1388911269
|
|
NM_000249.4(MLH1):c.350C>T (p.Thr117Met)
|
rs63750781
|
|
NM_000249.4(MLH1):c.362A>T (p.Asp121Val)
|
rs730881735
|
|
NM_000249.4(MLH1):c.367A>T (p.Lys123Ter)
|
rs63750542
|
|
NM_000249.4(MLH1):c.36C>T (p.Asp12=)
|
rs587782181
|
|
NM_000249.4(MLH1):c.380+31A>G
|
|
|
NM_000249.4(MLH1):c.380+8G>A
|
rs2125757948
|
|
NM_000249.4(MLH1):c.454-33T>C
|
|
|
NM_000249.4(MLH1):c.503del (p.Asn168fs)
|
rs63749959
|
|
NM_000249.4(MLH1):c.546-28T>G
|
|
|
NM_000249.4(MLH1):c.546-35A>G
|
|
|
NM_000249.4(MLH1):c.580G>A (p.Val194Ile)
|
rs1485929020
|
|
NM_000249.4(MLH1):c.585A>G (p.Lys195=)
|
|
|
NM_000249.4(MLH1):c.588+26G>A
|
|
|
NM_000249.4(MLH1):c.589-7T>C
|
rs371767464
|
|
NM_000249.4(MLH1):c.589-9G>A
|
rs566497442
|
|
NM_000249.4(MLH1):c.603A>G (p.Val201=)
|
rs2125808325
|
|
NM_000249.4(MLH1):c.677+23A>G
|
|
|
NM_000249.4(MLH1):c.677+41T>C
|
|
|
NM_000249.4(MLH1):c.677+48del
|
|
|
NM_000249.4(MLH1):c.677G>A (p.Arg226Gln)
|
rs63751711
|
|
NM_000249.4(MLH1):c.678-27A>T
|
|
|
NM_000249.4(MLH1):c.678-49G>A
|
rs2125821056
|
|
NM_000249.4(MLH1):c.678-8T>C
|
|
|
NM_000249.4(MLH1):c.696_698del (p.Cys233del)
|
rs1575480253
|
|
NM_000249.4(MLH1):c.790+1G>A
|
rs267607789
|
|
NM_000249.4(MLH1):c.790+48A>C
|
|
|
NM_000249.4(MLH1):c.791-23G>T
|
|
|
NM_000249.4(MLH1):c.794G>C (p.Arg265Pro)
|
rs63751448
|
|
NM_000249.4(MLH1):c.885-21TC[2]
|
rs267607804
|
|
NM_000249.4(MLH1):c.885-26_885-23del
|
|
|
NM_000249.4(MLH1):c.885-39A>G
|
|
|
NM_000251.3(MSH2):c.*10_*12del
|
rs764232113
|
|
NM_000251.3(MSH2):c.*13A>G
|
|
|
NM_000251.3(MSH2):c.*24G>A
|
|
|
NM_000251.3(MSH2):c.*45C>G
|
|
|
NM_000251.3(MSH2):c.*47G>A
|
rs1196239075
|
|
NM_000251.3(MSH2):c.-36G>A
|
|
|
NM_000251.3(MSH2):c.1072G>T (p.Glu358Ter)
|
|
|
NM_000251.3(MSH2):c.1076+24G>A
|
|
|
NM_000251.3(MSH2):c.1077-32A>T
|
|
|
NM_000251.3(MSH2):c.1077-42A>T
|
|
|
NM_000251.3(MSH2):c.1094C>A (p.Ala365Asp)
|
rs1242235025
|
|
NM_000251.3(MSH2):c.1191A>T (p.Gln397His)
|
rs768694189
|
|
NM_000251.3(MSH2):c.1237dup (p.Gln413fs)
|
|
|
NM_000251.3(MSH2):c.1276+23del
|
rs587779081
|
|
NM_000251.3(MSH2):c.1276+9T>A
|
rs1051128706
|
|
NM_000251.3(MSH2):c.1277-11C>G
|
|
|
NM_000251.3(MSH2):c.1277-33T>G
|
|
|
NM_000251.3(MSH2):c.1279A>G (p.Lys427Glu)
|
rs2103752001
|
|
NM_000251.3(MSH2):c.1294T>A (p.Leu432Met)
|
rs937218360
|
|
NM_000251.3(MSH2):c.1327C>G (p.Leu443Val)
|
rs876659906
|
|
NM_000251.3(MSH2):c.1344C>G (p.Ser448=)
|
rs1010360604
|
|
NM_000251.3(MSH2):c.1387-14_1387-11del
|
rs370436680
|
|
NM_000251.3(MSH2):c.1387-31A>G
|
|
|
NM_000251.3(MSH2):c.1510+47C>G
|
|
|
NM_000251.3(MSH2):c.1511-6A>T
|
|
|
NM_000251.3(MSH2):c.1622C>G (p.Thr541Ser)
|
|
|
NM_000251.3(MSH2):c.1661+17T>G
|
rs377461923
|
|
NM_000251.3(MSH2):c.1661+1G>A
|
rs267607969
|
|
NM_000251.3(MSH2):c.166G>A (p.Glu56Lys)
|
rs587779102
|
|
NM_000251.3(MSH2):c.1728C>T (p.Ala576=)
|
rs1410386885
|
|
NM_000251.3(MSH2):c.1760-30T>G
|
|
|
NM_000251.3(MSH2):c.1760-33C>A
|
|
|
NM_000251.3(MSH2):c.1760-4A>G
|
rs1060504409
|
|
NM_000251.3(MSH2):c.1786_1788del (p.Asn596del)
|
rs63749831
|
|
NM_000251.3(MSH2):c.1816G>T (p.Val606Phe)
|
|
|
NM_000251.3(MSH2):c.1829A>C (p.His610Pro)
|
|
|
NM_000251.3(MSH2):c.1845A>G (p.Ala615=)
|
rs2104341053
|
|
NM_000251.3(MSH2):c.1868C>T (p.Ala623Val)
|
rs781698416
|
|
NM_000251.3(MSH2):c.1890A>G (p.Gly630=)
|
rs778523544
|
|
NM_000251.3(MSH2):c.190A>G (p.Ile64Val)
|
rs1166747167
|
|
NM_000251.3(MSH2):c.1938T>C (p.Asp646=)
|
rs775484022
|
|
NM_000251.3(MSH2):c.1948T>C (p.Phe650Leu)
|
|
|
NM_000251.3(MSH2):c.195del (p.Lys65fs)
|
|
|
NM_000251.3(MSH2):c.1986del (p.Met663fs)
|
rs63749929
|
|
NM_000251.3(MSH2):c.2005+22C>T
|
|
|
NM_000251.3(MSH2):c.2005+42_2005+43del
|
rs1491316715
|
|
NM_000251.3(MSH2):c.2005+42_2005+44del
|
rs368297956
|
|
NM_000251.3(MSH2):c.2005+42del
|
|
|
NM_000251.3(MSH2):c.2005+46_2005+47insC
|
|
|
NM_000251.3(MSH2):c.2005+46_2005+47insG
|
|
|
NM_000251.3(MSH2):c.2005+60_2005+61del
|
rs76761634
|
|
NM_000251.3(MSH2):c.2005+60_2005+61dup
|
rs76761634
|
|
NM_000251.3(MSH2):c.2005+61del
|
|
|
NM_000251.3(MSH2):c.2005+61dup
|
|
|
NM_000251.3(MSH2):c.2006-1G>T
|
rs267607988
|
|
NM_000251.3(MSH2):c.2006-22T>C
|
|
|
NM_000251.3(MSH2):c.2006-42_2006-39del
|
|
|
NM_000251.3(MSH2):c.211+26G>T
|
|
|
NM_000251.3(MSH2):c.211+50G>A
|
|
|
NM_000251.3(MSH2):c.212-4del
|
rs746333570
|
|
NM_000251.3(MSH2):c.212-4dup
|
rs746333570
|
|
NM_000251.3(MSH2):c.212-50C>T
|
|
|
NM_000251.3(MSH2):c.212-5_212-4del
|
rs746333570
|
|
NM_000251.3(MSH2):c.212-6_212-4del
|
|
|
NM_000251.3(MSH2):c.2168C>T (p.Ser723Phe)
|
rs63750794
|
|
NM_000251.3(MSH2):c.2201C>G (p.Ser734Cys)
|
rs1553369204
|
|
NM_000251.3(MSH2):c.2211-19A>G
|
rs770675668
|
|
NM_000251.3(MSH2):c.2229A>G (p.Ser743=)
|
|
|
NM_000251.3(MSH2):c.2387C>G (p.Thr796Ser)
|
rs863224641
|
|
NM_000251.3(MSH2):c.2424A>G (p.Glu808=)
|
rs876660231
|
|
NM_000251.3(MSH2):c.2458+1G>C
|
|
|
NM_000251.3(MSH2):c.2458+51dup
|
|
|
NM_000251.3(MSH2):c.2459-21G>A
|
|
|
NM_000251.3(MSH2):c.2459-22C>T
|
|
|
NM_000251.3(MSH2):c.2459-31G>C
|
|
|
NM_000251.3(MSH2):c.2459-38T>G
|
|
|
NM_000251.3(MSH2):c.2527T>G (p.Cys843Gly)
|
rs1667495338
|
|
NM_000251.3(MSH2):c.2558A>G (p.Glu853Gly)
|
rs63750797
|
|
NM_000251.3(MSH2):c.2563C>T (p.Gln855Ter)
|
rs1553370404
|
|
NM_000251.3(MSH2):c.2576_2584del (p.Glu859_Gln861del)
|
rs587781278
|
|
NM_000251.3(MSH2):c.2634+19A>T
|
|
|
NM_000251.3(MSH2):c.2634G>C (p.Glu878Asp)
|
rs63751624
|
|
NM_000251.3(MSH2):c.2635-22G>C
|
|
|
NM_000251.3(MSH2):c.2635-39A>G
|
|
|
NM_000251.3(MSH2):c.2657A>G (p.Glu886Gly)
|
rs63750350
|
|
NM_000251.3(MSH2):c.265G>A (p.Val89Ile)
|
rs587782586
|
|
NM_000251.3(MSH2):c.2680dup (p.Met894fs)
|
rs876658211
|
|
NM_000251.3(MSH2):c.2714C>T (p.Thr905Ile)
|
rs267608022
|
|
NM_000251.3(MSH2):c.273TCT[2] (p.Leu94del)
|
rs267607919
|
|
NM_000251.3(MSH2):c.2782T>C (p.Ser928Pro)
|
rs587781852
|
|
NM_000251.3(MSH2):c.2801C>T (p.Thr934Met)
|
rs587779969
|
|
NM_000251.3(MSH2):c.295A>G (p.Arg99Gly)
|
|
|
NM_000251.3(MSH2):c.321dup (p.Gly108fs)
|
|
|
NM_000251.3(MSH2):c.323G>T (p.Gly108Val)
|
rs1183145967
|
|
NM_000251.3(MSH2):c.367-40C>T
|
|
|
NM_000251.3(MSH2):c.367-41T>C
|
|
|
NM_000251.3(MSH2):c.367-4T>G
|
rs876660764
|
|
NM_000251.3(MSH2):c.385_388del (p.Gln130fs)
|
|
|
NM_000251.3(MSH2):c.403C>G (p.Leu135Val)
|
rs193096019
|
|
NM_000251.3(MSH2):c.458C>G (p.Ser153Cys)
|
rs766349734
|
|
NM_000251.3(MSH2):c.479A>G (p.Gln160Arg)
|
rs1573440972
|
|
NM_000251.3(MSH2):c.492del (p.Tyr165fs)
|
|
|
NM_000251.3(MSH2):c.560T>G (p.Leu187Arg)
|
rs63751444
|
|
NM_000251.3(MSH2):c.603_604delinsTA (p.Leu201_Pro202delinsPheThr)
|
|
|
NM_000251.3(MSH2):c.645+35C>T
|
|
|
NM_000251.3(MSH2):c.646-1G>T
|
rs1114167888
|
|
NM_000251.3(MSH2):c.646-31A>C
|
|
|
NM_000251.3(MSH2):c.646-42T>C
|
|
|
NM_000251.3(MSH2):c.690T>C (p.Ala230=)
|
rs1553351595
|
|
NM_000251.3(MSH2):c.701C>G (p.Thr234Arg)
|
rs730881773
|
|
NM_000251.3(MSH2):c.752A>G (p.Glu251Gly)
|
rs2104107934
|
|
NM_000251.3(MSH2):c.757A>G (p.Met253Val)
|
rs1672827889
|
|
NM_000251.3(MSH2):c.792+36A>G
|
rs2104113194
|
|
NM_000251.3(MSH2):c.793-23G>A
|
rs17224255
|
|
NM_000251.3(MSH2):c.793-43C>G
|
|
|
NM_000251.3(MSH2):c.793G>T (p.Val265Phe)
|
rs1553352377
|
|
NM_000251.3(MSH2):c.811_814del (p.Ser271fs)
|
rs587779185
|
|
NM_000251.3(MSH2):c.860G>A (p.Gly287Glu)
|
rs587782567
|
|
NM_000251.3(MSH2):c.930T>C (p.Leu310=)
|
|
|
NM_000251.3(MSH2):c.942+12_942+29del
|
|
|
NM_000251.3(MSH2):c.942+16_942+29del
|
rs11309117
|
|
NM_000251.3(MSH2):c.942+17_942+29del
|
rs11309117
|
|
NM_000251.3(MSH2):c.942+18_942+29del
|
rs11309117
|
|
NM_000251.3(MSH2):c.942+19_942+29del
|
rs11309117
|
|
NM_000251.3(MSH2):c.942+20_942+29del
|
rs11309117
|
|
NM_000251.3(MSH2):c.942+21_942+29del
|
rs11309117
|
|
NM_000251.3(MSH2):c.942+22_942+29del
|
rs11309117
|
|
NM_000251.3(MSH2):c.942+23_942+29del
|
rs11309117
|
|
NM_000251.3(MSH2):c.942+24_942+29del
|
rs11309117
|
|
NM_000251.3(MSH2):c.942+25_942+29del
|
rs11309117
|
|
NM_000251.3(MSH2):c.942+26_942+29del
|
rs11309117
|
|
NM_000251.3(MSH2):c.942+27_942+29del
|
rs11309117
|
|
NM_000251.3(MSH2):c.942+28_942+29del
|
rs11309117
|
|
NM_000251.3(MSH2):c.942+28_942+30del
|
|
|
NM_000251.3(MSH2):c.942+29A>T
|
|
|
NM_000251.3(MSH2):c.942+29del
|
rs11309117
|
|
NM_000251.3(MSH2):c.942+29dup
|
rs11309117
|
|
NM_000251.3(MSH2):c.942+30G>A
|
|
|
NM_000251.3(MSH2):c.942+30G>T
|
|
|
NM_000251.3(MSH2):c.942+32G>T
|
|
|
NM_000251.3(MSH2):c.942+46A>G
|
|
|
NM_000251.3(MSH2):c.943-25_943-22del
|
|
|
NM_000251.3(MSH2):c.943-30A>G
|
|
|
NM_000251.3(MSH2):c.998G>A (p.Cys333Tyr)
|
rs63750828
|
|
NM_000264.5(PTCH1):c.-24GGC[3]
|
rs71366293
|
|
NM_000264.5(PTCH1):c.-24GGC[5]
|
rs71366293
|
|
NM_000264.5(PTCH1):c.-24GGC[6]
|
rs71366293
|
|
NM_000264.5(PTCH1):c.-24GGC[8]
|
rs71366293
|
|
NM_000264.5(PTCH1):c.113G>T (p.Gly38Val)
|
rs143494325
|
|
NM_000264.5(PTCH1):c.1215+23G>A
|
|
|
NM_000264.5(PTCH1):c.1215+33G>A
|
|
|
NM_000264.5(PTCH1):c.1216-43T>C
|
|
|
NM_000264.5(PTCH1):c.1216-44_1216-40delinsATGCC
|
|
|
NM_000264.5(PTCH1):c.1348-21C>T
|
|
|
NM_000264.5(PTCH1):c.149T>C (p.Leu50Pro)
|
rs1019888019
|
|
NM_000264.5(PTCH1):c.1602+15_1602+17del
|
rs528001004
|
|
NM_000264.5(PTCH1):c.1603-49G>A
|
|
|
NM_000264.5(PTCH1):c.1728+32C>G
|
|
|
NM_000264.5(PTCH1):c.1729-11del
|
rs779000277
|
|
NM_000264.5(PTCH1):c.2266C>T (p.Leu756Phe)
|
|
|
NM_000264.5(PTCH1):c.2272C>T (p.Leu758=)
|
rs863224346
|
|
NM_000264.5(PTCH1):c.2416_2419dup (p.Thr807fs)
|
|
|
NM_000264.5(PTCH1):c.2560+42G>A
|
|
|
NM_000264.5(PTCH1):c.2703+37G>T
|
|
|
NM_000264.5(PTCH1):c.2704-21C>T
|
|
|
NM_000264.5(PTCH1):c.30C>T (p.Pro10=)
|
rs1179684017
|
|
NM_000264.5(PTCH1):c.3120C>T (p.Phe1040=)
|
|
|
NM_000264.5(PTCH1):c.3306+28_3306+29del
|
|
|
NM_000264.5(PTCH1):c.3549+30G>A
|
|
|
NM_000264.5(PTCH1):c.3612G>A (p.Val1204=)
|
rs2136601481
|
|
NM_000264.5(PTCH1):c.3804+48G>C
|
|
|
NM_000264.5(PTCH1):c.3936G>A (p.Trp1312Ter)
|
rs1360926879
|
|
NM_000264.5(PTCH1):c.394+37C>G
|
rs543169448
|
|
NM_000264.5(PTCH1):c.4080C>T (p.Ser1360=)
|
rs62637631
|
|
NM_000264.5(PTCH1):c.4116G>A (p.Thr1372=)
|
rs776937004
|
|
NM_000264.5(PTCH1):c.435G>A (p.Gln145=)
|
|
|
NM_000264.5(PTCH1):c.585-41T>C
|
|
|
NM_000264.5(PTCH1):c.585-45C>G
|
|
|
NM_000264.5(PTCH1):c.946-29A>T
|
|
|
NM_000268.4(NF2):c.1097A>C (p.Glu366Ala)
|
|
|
NM_000289.6(PFKM):c.175G>A (p.Val59Met)
|
|
|
NM_000291.4(PGK1):c.491A>T (p.Asp164Val)
|
rs137852538
|
|
NM_000298.6(PKLR):c.1705C>T (p.Arg569Trp)
|
|
|
NM_000298.6(PKLR):c.625_637del (p.Arg209fs)
|
|
|
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg)
|
rs80338708
|
|
NM_000304.4(PMP22):c.278G>C (p.Gly93Ala)
|
|
|
NM_000314.6(PTEN):c.-903G>A
|
rs1044322
|
|
NM_000314.8(PTEN):c.*10dup
|
rs756681683
|
|
NM_000314.8(PTEN):c.-313A>C
|
rs1014763428
|
|
NM_000314.8(PTEN):c.-500GGC[6]
|
rs1237307954
|
|
NM_000314.8(PTEN):c.-511G>A
|
rs12573787
|
|
NM_000314.8(PTEN):c.-546GGC[6]
|
rs34413673
|
|
NM_000314.8(PTEN):c.1026+10A>G
|
rs767777911
|
|
NM_000314.8(PTEN):c.1026+28G>C
|
|
|
NM_000314.8(PTEN):c.1027-52_1027-48del
|
|
|
NM_000314.8(PTEN):c.1027G>T (p.Val343Leu)
|
|
|
NM_000314.8(PTEN):c.150T>C (p.Ile50=)
|
|
|
NM_000314.8(PTEN):c.165-24TTTG[2]
|
rs786204877
|
|
NM_000314.8(PTEN):c.209+3A>G
|
rs786202612
|
|
NM_000314.8(PTEN):c.210-42T>C
|
|
|
NM_000314.8(PTEN):c.210-7_210-3del
|
rs587780544
|
|
NM_000314.8(PTEN):c.216T>C (p.Ala72=)
|
rs1057520862
|
|
NM_000314.8(PTEN):c.222A>G (p.Arg74=)
|
rs781542973
|
|
NM_000314.8(PTEN):c.254-30dup
|
rs77494260
|
|
NM_000314.8(PTEN):c.259C>T (p.Gln87Ter)
|
rs1554898053
|
|
NM_000314.8(PTEN):c.278A>G (p.His93Arg)
|
rs121909238
|
|
NM_000314.8(PTEN):c.301_324dup (p.Leu108_Asp109insIleLysProPheCysGluAspLeu)
|
|
|
NM_000314.8(PTEN):c.314G>A (p.Cys105Tyr)
|
rs587782343
|
|
NM_000314.8(PTEN):c.354T>C (p.His118=)
|
rs1564830090
|
|
NM_000314.8(PTEN):c.389G>T (p.Arg130Leu)
|
rs121909229
|
|
NM_000314.8(PTEN):c.397G>A (p.Val133Ile)
|
rs1859977307
|
|
NM_000314.8(PTEN):c.40dup (p.Arg14fs)
|
rs587776671
|
|
NM_000314.8(PTEN):c.477G>A (p.Arg159=)
|
|
|
NM_000314.8(PTEN):c.492+14T>A
|
rs1057523132
|
|
NM_000314.8(PTEN):c.493-34dup
|
|
|
NM_000314.8(PTEN):c.493-46G>A
|
|
|
NM_000314.8(PTEN):c.500C>G (p.Thr167Ser)
|
|
|
NM_000314.8(PTEN):c.512A>G (p.Gln171Arg)
|
rs786204865
|
|
NM_000314.8(PTEN):c.534T>C (p.Tyr178=)
|
rs104894184
|
|
NM_000314.8(PTEN):c.540C>T (p.Tyr180=)
|
rs786202733
|
|
NM_000314.8(PTEN):c.632dup (p.Cys211fs)
|
rs1114167663
|
|
NM_000314.8(PTEN):c.634+7G>A
|
|
|
NM_000314.8(PTEN):c.672A>G (p.Ile224Met)
|
rs786204946
|
|
NM_000314.8(PTEN):c.67T>C (p.Leu23=)
|
|
|
NM_000314.8(PTEN):c.700C>T (p.Arg234Trp)
|
rs786201730
|
|
NM_000314.8(PTEN):c.703del (p.Glu235fs)
|
|
|
NM_000314.8(PTEN):c.765dup (p.Glu256fs)
|
|
|
NM_000314.8(PTEN):c.79+30C>T
|
|
|
NM_000314.8(PTEN):c.79+33T>A
|
|
|
NM_000314.8(PTEN):c.802-18_802-14del
|
rs786204879
|
|
NM_000314.8(PTEN):c.802-18_802-16del
|
rs1354236529
|
|
NM_000314.8(PTEN):c.802-24T>C
|
|
|
NM_000314.8(PTEN):c.802-3del
|
rs34003473
|
|
NM_000314.8(PTEN):c.802-4_802-3del
|
rs34003473
|
|
NM_000314.8(PTEN):c.802-4_802-3dup
|
rs34003473
|
|
NM_000314.8(PTEN):c.802-51_802-14del
|
rs557364463
|
|
NM_000314.8(PTEN):c.802-5_802-3dup
|
rs34003473
|
|
NM_000314.8(PTEN):c.835T>C (p.Phe279Leu)
|
|
|
NM_000314.8(PTEN):c.922C>T (p.Arg308Cys)
|
rs1064794436
|
|
NM_000314.8(PTEN):c.94ATT[1] (p.Ile33del)
|
rs1554893765
|
|
NM_000321.3(RB1):c.13A>C (p.Thr5Pro)
|
rs898303682
|
|
NM_000321.3(RB1):c.1462G>A (p.Ala488Thr)
|
|
|
NM_000321.3(RB1):c.2106+15C>T
|
|
|
NM_000321.3(RB1):c.2106+16A>C
|
|
|
NM_000321.3(RB1):c.2106+16A>G
|
|
|
NM_000321.3(RB1):c.2106+17C>A
|
|
|
NM_000321.3(RB1):c.2106+17C>G
|
|
|
NM_000321.3(RB1):c.2106+20C>T
|
|
|
NM_000321.3(RB1):c.2106+22C>A
|
|
|
NM_000321.3(RB1):c.2106+22C>G
|
|
|
NM_000321.3(RB1):c.2212-16del
|
|
|
NM_000321.3(RB1):c.2212-16dup
|
rs553094345
|
|
NM_000321.3(RB1):c.264+22T>G
|
|
|
NM_000338.3(SLC12A1):c.1697C>G (p.Thr566Ser)
|
|
|
NM_000342.3(SLC4A1):c.448C>T (p.Arg150Ter)
|
rs56361140
|
|
NM_000342.4(SLC4A1):c.1424TCT[1] (p.Phe476del)
|
|
|
NM_000342.4(SLC4A1):c.1458_1459dup (p.Ile487fs)
|
|
|
NM_000342.4(SLC4A1):c.176T>A (p.Val59Glu)
|
|
|
NM_000342.4(SLC4A1):c.1986G>T (p.Trp662Cys)
|
|
|
NM_000342.4(SLC4A1):c.2057+1G>A
|
rs2047371081
|
|
NM_000342.4(SLC4A1):c.2188C>A (p.Arg730Ser)
|
|
|
NM_000342.4(SLC4A1):c.2386G>A (p.Gly796Arg)
|
|
|
NM_000342.4(SLC4A1):c.443A>G (p.Gln148Arg)
|
|
|
NM_000342.4(SLC4A1):c.571dup (p.Gln191fs)
|
|
|
NM_000342.4(SLC4A1):c.695-2A>G
|
|
|
NM_000361.3(THBD):c.811G>A (p.Ala271Thr)
|
|
|
NM_000377.3(WAS):c.1199C>T (p.Pro400Leu)
|
rs782596670
|
|
NM_000377.3(WAS):c.167C>T (p.Ala56Val)
|
rs132630269
|
|
NM_000377.3(WAS):c.559+5G>A
|
rs886039451
|
|
NM_000388.4(CASR):c.*34AG[2]
|
|
|
NM_000388.4(CASR):c.1056G>A (p.Trp352Ter)
|
rs2107632822
|
|
NM_000388.4(CASR):c.1138A>T (p.Ser380Cys)
|
rs2074634758
|
|
NM_000388.4(CASR):c.1161C>A (p.Ser387Arg)
|
|
|
NM_000388.4(CASR):c.1164G>A (p.Ser388=)
|
rs200898785
|
|
NM_000388.4(CASR):c.1283C>A (p.Ala428Asp)
|
rs895543540
|
|
NM_000388.4(CASR):c.1378-22C>T
|
|
|
NM_000388.4(CASR):c.1406T>G (p.Phe469Cys)
|
rs1376231303
|
|
NM_000388.4(CASR):c.1466A>G (p.Tyr489Cys)
|
rs1553768108
|
|
NM_000388.4(CASR):c.1617C>G (p.Phe539Leu)
|
|
|
NM_000388.4(CASR):c.1628G>A (p.Ser543Asn)
|
|
|
NM_000388.4(CASR):c.1657G>A (p.Gly553Arg)
|
rs104893719
|
|
NM_000388.4(CASR):c.1663A>G (p.Ile555Val)
|
rs777646067
|
|
NM_000388.4(CASR):c.1716G>A (p.Glu572=)
|
rs946945741
|
|
NM_000388.4(CASR):c.185+42G>A
|
|
|
NM_000388.4(CASR):c.1989C>T (p.Ser663=)
|
rs2107649731
|
|
NM_000388.4(CASR):c.1997dup (p.Phe667fs)
|
|
|
NM_000388.4(CASR):c.2033G>A (p.Arg678His)
|
rs1278025825
|
|
NM_000388.4(CASR):c.205C>T (p.Arg69Cys)
|
rs1313627454
|
|
NM_000388.4(CASR):c.2182G>T (p.Val728Phe)
|
|
|
NM_000388.4(CASR):c.2224T>C (p.Trp742Arg)
|
|
|
NM_000388.4(CASR):c.2339C>A (p.Thr780Asn)
|
rs754332943
|
|
NM_000388.4(CASR):c.2383del (p.Arg795fs)
|
rs2107650417
|
|
NM_000388.4(CASR):c.2653_2682del (p.Ala885_Val894del)
|
rs2107650917
|
|
NM_000388.4(CASR):c.2656C>T (p.Arg886Trp)
|
rs1559969429
|
|
NM_000388.4(CASR):c.2729C>G (p.Pro910Arg)
|
rs1219288084
|
|
NM_000388.4(CASR):c.2776C>T (p.Gln926Ter)
|
rs2107651172
|
|
NM_000388.4(CASR):c.2901del (p.Phe968fs)
|
rs2107651486
|
|
NM_000388.4(CASR):c.2917G>A (p.Val973Ile)
|
rs2107651511
|
|
NM_000388.4(CASR):c.3223G>T (p.Val1075Leu)
|
rs748855270
|
|
NM_000388.4(CASR):c.440C>T (p.Ser147Leu)
|
|
|
NM_000388.4(CASR):c.61G>A (p.Gly21Arg)
|
rs1064794290
|
|
NM_000388.4(CASR):c.658C>T (p.Arg220Trp)
|
rs1482119762
|
|
NM_000388.4(CASR):c.691G>A (p.Glu231Lys)
|
rs2107632118
|
|
NM_000388.4(CASR):c.741dup (p.Asp248Ter)
|
|
|
NM_000388.4(CASR):c.773T>C (p.Val258Ala)
|
rs771989281
|
|
NM_000388.4(CASR):c.78C>G (p.Ala26=)
|
rs77852524
|
|
NM_000388.4(CASR):c.903del (p.Ser302fs)
|
rs2107632517
|
|
NM_000397.4(CYBB):c.860G>A (p.Arg287Gln)
|
|
|
NM_000407.5(GP1BB):c.236_244del (p.Pro79_Leu81del)
|
rs1601248578
|
|
NM_000407.5(GP1BB):c.316G>A (p.Gly106Ser)
|
|
|
NM_000410.4(HFE):c.622C>G (p.Pro208Ala)
|
|
|
NM_000419.5(ITGA2B):c.1229C>T (p.Pro410Leu)
|
|
|
NM_000419.5(ITGA2B):c.1878+2T>C
|
|
|
NM_000431.4(MVK):c.119G>T (p.Arg40Leu)
|
rs373095009
|
|
NM_000441.2(SLC26A4):c.1263+1G>A
|
rs1057517000
|
|
NM_000443.4(ABCB4):c.2064+3A>T
|
|
|
NM_000444.6(PHEX):c.-14_8delinsTGGGAGCAGCGTGG (p.Met1fs)
|
|
|
NM_000455.5(STK11):c.*16+12_*16+22del
|
|
|
NM_000455.5(STK11):c.-7del
|
rs1064795642
|
|
NM_000455.5(STK11):c.1077C>G (p.Asp359Glu)
|
rs1321578734
|
|
NM_000455.5(STK11):c.1108+40G>C
|
rs377730771
|
|
NM_000455.5(STK11):c.1109-23del
|
rs1446932431
|
|
NM_000455.5(STK11):c.113C>T (p.Pro38Leu)
|
rs1568690036
|
|
NM_000455.5(STK11):c.1181G>T (p.Gly394Val)
|
|
|
NM_000455.5(STK11):c.1202G>A (p.Ser401Asn)
|
rs587782291
|
|
NM_000455.5(STK11):c.1217C>G (p.Ala406Gly)
|
rs748202003
|
|
NM_000455.5(STK11):c.1224C>T (p.Gly408=)
|
rs1555740206
|
|
NM_000455.5(STK11):c.1225C>T (p.Arg409Trp)
|
rs368466538
|
|
NM_000455.5(STK11):c.1243C>A (p.Arg415Ser)
|
|
|
NM_000455.5(STK11):c.1258G>A (p.Ala420Thr)
|
rs762482152
|
|
NM_000455.5(STK11):c.1260C>A (p.Ala420=)
|
rs2145436473
|
|
NM_000455.5(STK11):c.1283C>G (p.Ser428Trp)
|
rs587781537
|
|
NM_000455.5(STK11):c.1284G>T (p.Ser428=)
|
rs369097329
|
|
NM_000455.5(STK11):c.12G>A (p.Val4=)
|
rs1379886566
|
|
NM_000455.5(STK11):c.163C>T (p.Leu55=)
|
rs1057520869
|
|
NM_000455.5(STK11):c.192G>A (p.Lys64=)
|
rs2145405404
|
|
NM_000455.5(STK11):c.290+21T>G
|
rs918874227
|
|
NM_000455.5(STK11):c.290+21_290+26dup
|
rs1555735086
|
|
NM_000455.5(STK11):c.290+38C>T
|
rs1311810080
|
|
NM_000455.5(STK11):c.290+41T>C
|
|
|
NM_000455.5(STK11):c.291-40C>T
|
|
|
NM_000455.5(STK11):c.31A>T (p.Met11Leu)
|
rs753834428
|
|
NM_000455.5(STK11):c.375-29C>T
|
|
|
NM_000455.5(STK11):c.38C>A (p.Thr13Lys)
|
|
|
NM_000455.5(STK11):c.440G>T (p.Arg147Leu)
|
|
|
NM_000455.5(STK11):c.448G>C (p.Val150Leu)
|
rs1225872771
|
|
NM_000455.5(STK11):c.464+32C>G
|
rs1568705955
|
|
NM_000455.5(STK11):c.464+34G>T
|
|
|
NM_000455.5(STK11):c.464+36G>T
|
|
|
NM_000455.5(STK11):c.464+38_464+39insTGGGGGC
|
|
|
NM_000455.5(STK11):c.464+39_464+40insAGGGGCC
|
|
|
NM_000455.5(STK11):c.464+44dup
|
rs544282452
|
|
NM_000455.5(STK11):c.465-4G>A
|
rs587780009
|
|
NM_000455.5(STK11):c.481A>C (p.Ile161Leu)
|
|
|
NM_000455.5(STK11):c.528C>T (p.Asp176=)
|
rs876658393
|
|
NM_000455.5(STK11):c.56C>T (p.Ser19Leu)
|
rs1426026332
|
|
NM_000455.5(STK11):c.597+10T>C
|
|
|
NM_000455.5(STK11):c.597+21G>T
|
rs767482086
|
|
NM_000455.5(STK11):c.597+21del
|
rs534445875
|
|
NM_000455.5(STK11):c.597+21dup
|
rs534445875
|
|
NM_000455.5(STK11):c.597+22C>T
|
|
|
NM_000455.5(STK11):c.734+36C>T
|
|
|
NM_000455.5(STK11):c.734+49G>C
|
|
|
NM_000455.5(STK11):c.735-13C>T
|
rs1180463550
|
|
NM_000455.5(STK11):c.735-46A>G
|
|
|
NM_000455.5(STK11):c.747C>T (p.Thr249=)
|
rs759546076
|
|
NM_000455.5(STK11):c.849T>G (p.Ser283=)
|
|
|
NM_000455.5(STK11):c.85A>T (p.Ile29Phe)
|
rs864622719
|
|
NM_000455.5(STK11):c.862+20G>A
|
|
|
NM_000455.5(STK11):c.862+27G>C
|
|
|
NM_000455.5(STK11):c.876C>G (p.Tyr292Ter)
|
rs148928808
|
|
NM_000455.5(STK11):c.914A>G (p.Gln305Arg)
|
rs2080788003
|
|
NM_000455.5(STK11):c.997C>T (p.Arg333Cys)
|
rs746564972
|
|
NM_000455.5(STK11):c.998G>A (p.Arg333His)
|
rs587782267
|
|
NM_000463.3(UGT1A1):c.185C>G (p.Pro62Arg)
|
|
|
NM_000465.4(BARD1):c.1075_1095del (p.Leu359_Pro365del)
|
rs28997575
|
|
NM_000465.4(BARD1):c.1148T>C (p.Met383Thr)
|
rs763596413
|
|
NM_000465.4(BARD1):c.117C>T (p.Ala39=)
|
rs786202271
|
|
NM_000465.4(BARD1):c.1315-26A>G
|
|
|
NM_000465.4(BARD1):c.1321_1324del (p.Ile441fs)
|
|
|
NM_000465.4(BARD1):c.1333G>A (p.Glu445Lys)
|
rs1553619735
|
|
NM_000465.4(BARD1):c.1395+29T>C
|
|
|
NM_000465.4(BARD1):c.1395+43G>A
|
|
|
NM_000465.4(BARD1):c.1395+50T>C
|
|
|
NM_000465.4(BARD1):c.1396-10A>T
|
rs1553619373
|
|
NM_000465.4(BARD1):c.13C>A (p.Arg5=)
|
rs766441081
|
|
NM_000465.4(BARD1):c.1412A>T (p.His471Leu)
|
|
|
NM_000465.4(BARD1):c.1479A>G (p.Gln493=)
|
rs375029767
|
|
NM_000465.4(BARD1):c.1568+11C>G
|
rs1553619191
|
|
NM_000465.4(BARD1):c.1568+39C>G
|
|
|
NM_000465.4(BARD1):c.1569-42C>T
|
|
|
NM_000465.4(BARD1):c.1577T>G (p.Phe526Cys)
|
|
|
NM_000465.4(BARD1):c.158+2T>G
|
|
|
NM_000465.4(BARD1):c.1677+5G>A
|
rs587780019
|
|
NM_000465.4(BARD1):c.1678-42G>A
|
|
|
NM_000465.4(BARD1):c.1678-43C>T
|
|
|
NM_000465.4(BARD1):c.1754T>C (p.Leu585Pro)
|
rs786201905
|
|
NM_000465.4(BARD1):c.1767A>G (p.Ala589=)
|
rs1553615121
|
|
NM_000465.4(BARD1):c.1793C>T (p.Thr598Ile)
|
rs376256852
|
|
NM_000465.4(BARD1):c.1810G>A (p.Val604Ile)
|
rs1553615089
|
|
NM_000465.4(BARD1):c.1811-40T>C
|
|
|
NM_000465.4(BARD1):c.1903+42A>G
|
|
|
NM_000465.4(BARD1):c.1904-24C>T
|
|
|
NM_000465.4(BARD1):c.1904-34dup
|
|
|
NM_000465.4(BARD1):c.1904G>A (p.Trp635Ter)
|
rs1692308262
|
|
NM_000465.4(BARD1):c.1913C>T (p.Ala638Val)
|
rs1559374246
|
|
NM_000465.4(BARD1):c.1935_1954dup (p.Glu652fs)
|
rs587780024
|
|
NM_000465.4(BARD1):c.2001+45A>G
|
|
|
NM_000465.4(BARD1):c.2001+9C>G
|
rs2105990348
|
|
NM_000465.4(BARD1):c.2005C>G (p.Pro669Ala)
|
|
|
NM_000465.4(BARD1):c.2076T>C (p.Ile692=)
|
|
|
NM_000465.4(BARD1):c.2143C>T (p.Gln715Ter)
|
rs1553612164
|
|
NM_000465.4(BARD1):c.216-14del
|
rs56130510
|
|
NM_000465.4(BARD1):c.216-15_216-14del
|
rs56130510
|
|
NM_000465.4(BARD1):c.216-15_216-14dup
|
|
|
NM_000465.4(BARD1):c.216-16_216-14del
|
rs56130510
|
|
NM_000465.4(BARD1):c.216-29dup
|
rs56130510
|
|
NM_000465.4(BARD1):c.216-37T>C
|
|
|
NM_000465.4(BARD1):c.216-3A>T
|
rs1329481396
|
|
NM_000465.4(BARD1):c.2161G>T (p.Ala721Ser)
|
rs554708247
|
|
NM_000465.4(BARD1):c.2163A>G (p.Ala721=)
|
rs786202805
|
|
NM_000465.4(BARD1):c.2191C>G (p.Arg731Gly)
|
rs76744638
|
|
NM_000465.4(BARD1):c.2272G>C (p.Ala758Pro)
|
rs863224672
|
|
NM_000465.4(BARD1):c.2300_2301del (p.Val767fs)
|
rs750413473
|
|
NM_000465.4(BARD1):c.26_40del (p.4_8NRQPR[1])
|
rs587781979
|
|
NM_000465.4(BARD1):c.364+11T>C
|
rs1695552018
|
|
NM_000465.4(BARD1):c.365-23T>A
|
|
|
NM_000465.4(BARD1):c.415A>C (p.Lys139Gln)
|
|
|
NM_000465.4(BARD1):c.501T>C (p.Pro167=)
|
|
|
NM_000465.4(BARD1):c.552C>T (p.Ser184=)
|
rs1060504193
|
|
NM_000465.4(BARD1):c.575C>A (p.Ser192Tyr)
|
rs587782482
|
|
NM_000465.4(BARD1):c.5C>T (p.Pro2Leu)
|
rs1574870182
|
|
NM_000465.4(BARD1):c.701A>T (p.Glu234Val)
|
|
|
NM_000465.4(BARD1):c.798G>C (p.Leu266Phe)
|
rs1553622436
|
|
NM_000465.4(BARD1):c.876G>A (p.Lys292=)
|
|
|
NM_000465.4(BARD1):c.966T>C (p.Arg322=)
|
|
|
NM_000478.6(ALPL):c.1015G>C (p.Gly339Arg)
|
|
|
NM_000478.6(ALPL):c.1366G>A (p.Gly456Arg)
|
rs121918016
|
|
NM_000478.6(ALPL):c.1474del (p.Ala492fs)
|
rs1558558976
|
|
NM_000478.6(ALPL):c.512A>G (p.His171Arg)
|
|
|
NM_000478.6(ALPL):c.738G>T (p.Arg246Ser)
|
rs1223142821
|
|
NM_000489.6(ATRX):c.1727C>A (p.Ser576Ter)
|
rs2071372283
|
|
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)
|
rs113993960
|
|
NM_000492.4(CFTR):c.50dup (p.Ser18fs)
|
rs397508714
|
|
NM_000504.4(F10):c.323A>T (p.Tyr108Phe)
|
|
|
NM_000504.4(F10):c.730G>A (p.Gly244Arg)
|
|
|
NM_000516.7(GNAS):c.212+3A>T
|
|
|
NM_000517.6(HBA2):c.428A>C (p.Ter143Ser)
|
rs41321345
|
|
NM_000517.6(HBA2):c.95+2_95+6del
|
rs41474145
|
|
NM_000518.5(HBB):c.17_18del (p.Pro6fs)
|
rs34889882
|
|
NM_000518.5(HBB):c.27dup (p.Ser10fs)
|
rs35699606
|
|
NM_000518.5(HBB):c.295G>A (p.Val99Met)
|
rs33933298
|
|
NM_000518.5(HBB):c.316-3C>A
|
rs33913413
|
|
NM_000518.5(HBB):c.47G>A (p.Trp16Ter)
|
rs63750783
|
|
NM_000518.5(HBB):c.93-22_95del
|
rs193922563
|
|
NM_000523.4(HOXD13):c.212_213insTGCCGCCGCCGCAGCCGCCGCTGCCGC (p.Ala71_Ser72insAlaAlaAlaAlaAlaAlaAlaAlaAla)
|
|
|
NM_000527.5(LDLR):c.*2196TA[10]
|
|
|
NM_000527.5(LDLR):c.*2196TA[7]
|
rs3980933
|
|
NM_000535.6(PMS2):c.-33C>T
|
rs562800874
|
|
NM_000535.7(PMS2):c.*2C>T
|
rs764124442
|
|
NM_000535.7(PMS2):c.*3G>A
|
rs776493195
|
|
NM_000535.7(PMS2):c.*8C>T
|
|
|
NM_000535.7(PMS2):c.-25C>G
|
|
|
NM_000535.7(PMS2):c.1076dup (p.Leu359fs)
|
rs267608156
|
|
NM_000535.7(PMS2):c.1112_1113delinsTTTA (p.Asn371fs)
|
rs587779326
|
|
NM_000535.7(PMS2):c.1144+48G>A
|
|
|
NM_000535.7(PMS2):c.1188G>C (p.Met396Ile)
|
rs1170825702
|
|
NM_000535.7(PMS2):c.1214C>T (p.Ser405Leu)
|
rs1554298036
|
|
NM_000535.7(PMS2):c.1243G>T (p.Val415Leu)
|
rs138387687
|
|
NM_000535.7(PMS2):c.1245G>A (p.Val415=)
|
rs370701800
|
|
NM_000535.7(PMS2):c.1281del (p.His428fs)
|
rs1783147885
|
|
NM_000535.7(PMS2):c.1338T>C (p.Pro446=)
|
rs786203033
|
|
NM_000535.7(PMS2):c.1437C>G (p.His479Gln)
|
rs63750685
|
|
NM_000535.7(PMS2):c.1476G>A (p.Lys492=)
|
rs766309532
|
|
NM_000535.7(PMS2):c.1493del (p.Ser498fs)
|
|
|
NM_000535.7(PMS2):c.1545C>T (p.Cys515=)
|
rs1057520347
|
|
NM_000535.7(PMS2):c.1588C>A (p.Gln530Lys)
|
rs751261543
|
|
NM_000535.7(PMS2):c.163+44TGT[2]
|
|
|
NM_000535.7(PMS2):c.164-2A>G
|
rs587779324
|
|
NM_000535.7(PMS2):c.164-38C>T
|
|
|
NM_000535.7(PMS2):c.164-43G>C
|
rs2128831315
|
|
NM_000535.7(PMS2):c.1645G>A (p.Val549Met)
|
rs1199136734
|
|
NM_000535.7(PMS2):c.166C>A (p.Leu56Ile)
|
rs371011390
|
|
NM_000535.7(PMS2):c.1673C>G (p.Thr558Ser)
|
|
|
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu)
|
rs63750668
|
|
NM_000535.7(PMS2):c.1700A>G (p.Gln567Arg)
|
rs112104877
|
|
NM_000535.7(PMS2):c.1703C>G (p.Pro568Arg)
|
rs869312801
|
|
NM_000535.7(PMS2):c.1732C>T (p.Arg578Cys)
|
rs63750534
|
|
NM_000535.7(PMS2):c.1733G>A (p.Arg578His)
|
rs63750770
|
|
NM_000535.7(PMS2):c.1842A>G (p.Lys614=)
|
rs2128722527
|
|
NM_000535.7(PMS2):c.1860T>C (p.Phe620=)
|
rs1583314594
|
|
NM_000535.7(PMS2):c.189G>A (p.Val63=)
|
rs786203074
|
|
NM_000535.7(PMS2):c.2007-41A>G
|
|
|
NM_000535.7(PMS2):c.2007-43T>C
|
|
|
NM_000535.7(PMS2):c.2007-44A>C
|
rs2128705373
|
|
NM_000535.7(PMS2):c.203T>C (p.Val68Ala)
|
|
|
NM_000535.7(PMS2):c.2160G>A (p.Gly720=)
|
rs546441038
|
|
NM_000535.7(PMS2):c.2174+25C>G
|
|
|
NM_000535.7(PMS2):c.2186_2187del (p.Leu729fs)
|
rs587779335
|
|
NM_000535.7(PMS2):c.2212G>C (p.Val738Leu)
|
rs758225108
|
|
NM_000535.7(PMS2):c.221G>A (p.Gly74Glu)
|
|
|
NM_000535.7(PMS2):c.2235A>G (p.Ile745Met)
|
rs1554294453
|
|
NM_000535.7(PMS2):c.2275+43C>T
|
|
|
NM_000535.7(PMS2):c.2275+46G>A
|
|
|
NM_000535.7(PMS2):c.2276-46C>T
|
|
|
NM_000535.7(PMS2):c.2276-8T>C
|
|
|
NM_000535.7(PMS2):c.23+31C>T
|
|
|
NM_000535.7(PMS2):c.23+42C>T
|
|
|
NM_000535.7(PMS2):c.23+44C>T
|
|
|
NM_000535.7(PMS2):c.2330C>T (p.Thr777Ile)
|
rs777728316
|
|
NM_000535.7(PMS2):c.2380C>G (p.Pro794Ala)
|
rs773393960
|
|
NM_000535.7(PMS2):c.2380C>T (p.Pro794Ser)
|
rs773393960
|
|
NM_000535.7(PMS2):c.2432C>T (p.Ala811Val)
|
rs1387206284
|
|
NM_000535.7(PMS2):c.2445+29C>T
|
|
|
NM_000535.7(PMS2):c.2445+45del
|
|
|
NM_000535.7(PMS2):c.2489dup (p.Ile831fs)
|
|
|
NM_000535.7(PMS2):c.250+49C>T
|
|
|
NM_000535.7(PMS2):c.251-33A>C
|
|
|
NM_000535.7(PMS2):c.251-34G>A
|
|
|
NM_000535.7(PMS2):c.2559C>T (p.Ile853=)
|
rs371673459
|
|
NM_000535.7(PMS2):c.296C>G (p.Thr99Ser)
|
rs786202835
|
|
NM_000535.7(PMS2):c.296C>T (p.Thr99Ile)
|
rs786202835
|
|
NM_000535.7(PMS2):c.354-174T>C
|
|
|
NM_000535.7(PMS2):c.356A>G (p.Asp119Gly)
|
rs2128819431
|
|
NM_000535.7(PMS2):c.428T>C (p.Ile143Thr)
|
rs1562690040
|
|
NM_000535.7(PMS2):c.479A>C (p.Gln160Pro)
|
rs1554303922
|
|
NM_000535.7(PMS2):c.537+37T>C
|
|
|
NM_000535.7(PMS2):c.538-37_538-33del
|
|
|
NM_000535.7(PMS2):c.538-53_538-42dup
|
rs775465039
|
|
NM_000535.7(PMS2):c.576T>C (p.Cys192=)
|
rs1554302497
|
|
NM_000535.7(PMS2):c.662C>G (p.Pro221Arg)
|
rs878854056
|
|
NM_000535.7(PMS2):c.672G>C (p.Lys224Asn)
|
rs748141595
|
|
NM_000535.7(PMS2):c.690G>C (p.Val230=)
|
rs749871098
|
|
NM_000535.7(PMS2):c.705+41G>A
|
|
|
NM_000535.7(PMS2):c.706-4del
|
rs60794673
|
|
NM_000535.7(PMS2):c.706-5_706-4del
|
rs60794673
|
|
NM_000535.7(PMS2):c.706-5_706-4dup
|
|
|
NM_000535.7(PMS2):c.706-6T>C
|
rs2128788984
|
|
NM_000535.7(PMS2):c.706-6_706-4del
|
rs60794673
|
|
NM_000535.7(PMS2):c.780C>A (p.Ser260=)
|
rs1805319
|
|
NM_000535.7(PMS2):c.787C>G (p.Leu263Val)
|
rs587779345
|
|
NM_000535.7(PMS2):c.789G>A (p.Leu263=)
|
rs755394319
|
|
NM_000535.7(PMS2):c.804-21T>C
|
rs1481725459
|
|
NM_000535.7(PMS2):c.804-49A>G
|
|
|
NM_000535.7(PMS2):c.830C>A (p.Thr277Lys)
|
rs1805322
|
|
NM_000535.7(PMS2):c.85G>C (p.Gly29Arg)
|
|
|
NM_000535.7(PMS2):c.903+23A>G
|
|
|
NM_000535.7(PMS2):c.904-25T>G
|
|
|
NM_000535.7(PMS2):c.904-2A>G
|
rs587781339
|
|
NM_000535.7(PMS2):c.909C>T (p.Cys303=)
|
rs1199497563
|
|
NM_000535.7(PMS2):c.988+44C>G
|
|
|
NM_000535.7(PMS2):c.989-23A>T
|
|
|
NM_000535.7(PMS2):c.989-2A>G
|
rs587779347
|
|
NM_000540.3(RYR1):c.7543C>A (p.Gln2515Lys)
|
|
|
NM_000546.6(TP53):c.100C>G (p.Pro34Ala)
|
rs786201968
|
|
NM_000546.6(TP53):c.1020G>C (p.Met340Ile)
|
|
|
NM_000546.6(TP53):c.1064C>G (p.Ala355Gly)
|
rs1555524382
|
|
NM_000546.6(TP53):c.1073A>T (p.Glu358Val)
|
rs773553186
|
|
NM_000546.6(TP53):c.1079G>T (p.Gly360Val)
|
rs35993958
|
|
NM_000546.6(TP53):c.1100+31C>T
|
rs2072900991
|
|
NM_000546.6(TP53):c.1101-26C>T
|
|
|
NM_000546.6(TP53):c.1101-43C>T
|
|
|
NM_000546.6(TP53):c.202G>T (p.Glu68Ter)
|
rs869312782
|
|
NM_000546.6(TP53):c.251C>T (p.Ala84Val)
|
|
|
NM_000546.6(TP53):c.309C>A (p.Tyr103Ter)
|
|
|
NM_000546.6(TP53):c.31G>C (p.Glu11Gln)
|
rs201382018
|
|
NM_000546.6(TP53):c.331C>G (p.Leu111Val)
|
|
|
NM_000546.6(TP53):c.375+1G>A
|
rs1567555445
|
|
NM_000546.6(TP53):c.375+26C>A
|
|
|
NM_000546.6(TP53):c.375+49G>A
|
|
|
NM_000546.6(TP53):c.376-24T>A
|
|
|
NM_000546.6(TP53):c.376-9T>A
|
rs2151034304
|
|
NM_000546.6(TP53):c.427G>T (p.Val143Leu)
|
rs587782620
|
|
NM_000546.6(TP53):c.451C>A (p.Pro151Thr)
|
rs28934874
|
|
NM_000546.6(TP53):c.460G>C (p.Gly154Arg)
|
rs137852789
|
|
NM_000546.6(TP53):c.469G>T (p.Val157Phe)
|
rs121912654
|
|
NM_000546.6(TP53):c.535C>G (p.His179Asp)
|
rs587780070
|
|
NM_000546.6(TP53):c.559+32C>A
|
|
|
NM_000546.6(TP53):c.63C>T (p.Asp21=)
|
rs1800369
|
|
NM_000546.6(TP53):c.646G>T (p.Val216Leu)
|
rs730882025
|
|
NM_000546.6(TP53):c.666G>T (p.Pro222=)
|
rs72661118
|
|
NM_000546.6(TP53):c.672+24T>C
|
|
|
NM_000546.6(TP53):c.672+34G>A
|
|
|
NM_000546.6(TP53):c.672+48G>A
|
rs17884607
|
|
NM_000546.6(TP53):c.672+9T>C
|
rs1057521030
|
|
NM_000546.6(TP53):c.673-29C>T
|
|
|
NM_000546.6(TP53):c.673-33C>T
|
|
|
NM_000546.6(TP53):c.673-36G>C
|
rs17880604
|
|
NM_000546.6(TP53):c.723del (p.Cys242fs)
|
rs2151021244
|
|
NM_000546.6(TP53):c.74+39A>C
|
|
|
NM_000546.6(TP53):c.74+46C>T
|
rs1356817780
|
|
NM_000546.6(TP53):c.75-17C>A
|
rs910296194
|
|
NM_000546.6(TP53):c.75-19T>A
|
rs2073508941
|
|
NM_000546.6(TP53):c.75-50T>C
|
|
|
NM_000546.6(TP53):c.783-16T>G
|
rs2151017461
|
|
NM_000546.6(TP53):c.783-16_783-15del
|
rs1064793810
|
|
NM_000546.6(TP53):c.78_95dup (p.Leu32_Ser33insProGluAsnAsnValLeu)
|
|
|
NM_000546.6(TP53):c.818G>A (p.Arg273His)
|
rs28934576
|
|
NM_000546.6(TP53):c.886C>T (p.His296Tyr)
|
rs672601296
|
|
NM_000546.6(TP53):c.916C>T (p.Arg306Ter)
|
rs121913344
|
|
NM_000546.6(TP53):c.919+23G>A
|
|
|
NM_000546.6(TP53):c.919+32G>A
|
|
|
NM_000546.6(TP53):c.935C>T (p.Thr312Ile)
|
rs145151284
|
|
NM_000546.6(TP53):c.96+36_96+49del
|
|
|
NM_000546.6(TP53):c.96+41_96+45del
|
rs776639636
|
|
NM_000546.6(TP53):c.96+41_97-53del
|
rs745875962
|
|
NM_000546.6(TP53):c.96+42_96+47del
|
rs2151044587
|
|
NM_000546.6(TP53):c.97-11C>T
|
rs769697802
|
|
NM_000546.6(TP53):c.97-44G>A
|
|
|
NM_000546.6(TP53):c.97-4A>G
|
rs746791390
|
|
NM_000546.6(TP53):c.994-17C>G
|
|
|
NM_000551.4(VHL):c.*29A>C
|
|
|
NM_000551.4(VHL):c.123_137dup (p.38SGPEE[3])
|
rs863224839
|
|
NM_000551.4(VHL):c.128C>A (p.Ser43Tyr)
|
rs202164771
|
|
NM_000551.4(VHL):c.132C>G (p.Gly44=)
|
rs1696123413
|
|
NM_000551.4(VHL):c.154G>A (p.Glu52Lys)
|
rs373068386
|
|
NM_000551.4(VHL):c.194C>G (p.Ser65Trp)
|
rs5030826
|
|
NM_000551.4(VHL):c.319C>T (p.Arg107Cys)
|
|
|
NM_000551.4(VHL):c.340+4C>A
|
|
|
NM_000551.4(VHL):c.340+630C>T
|
rs2125125896
|
|
NM_000551.4(VHL):c.340+653_340+654del
|
rs1420441572
|
|
NM_000551.4(VHL):c.340+855G>C
|
|
|
NM_000551.4(VHL):c.341-36G>T
|
|
|
NM_000551.4(VHL):c.341-48G>T
|
rs2125128116
|
|
NM_000551.4(VHL):c.345C>A (p.His115Gln)
|
rs864622646
|
|
NM_000551.4(VHL):c.34G>T (p.Glu12Ter)
|
|
|
NM_000551.4(VHL):c.366A>G (p.Ala122=)
|
rs1474241640
|
|
NM_000551.4(VHL):c.388G>A (p.Val130Ile)
|
|
|
NM_000551.4(VHL):c.3G>A (p.Met1Ile)
|
rs578091032
|
|
NM_000551.4(VHL):c.449A>G (p.Asn150Ser)
|
rs760184234
|
|
NM_000551.4(VHL):c.463+21A>G
|
rs1696268316
|
|
NM_000551.4(VHL):c.463+37_463+39del
|
rs869025658
|
|
NM_000551.4(VHL):c.463G>A (p.Val155Met)
|
rs869025659
|
|
NM_000551.4(VHL):c.46G>A (p.Glu16Lys)
|
|
|
NM_000551.4(VHL):c.541G>A (p.Val181Ile)
|
rs878854127
|
|
NM_000551.4(VHL):c.545G>A (p.Arg182Lys)
|
rs749774529
|
|
NM_000551.4(VHL):c.607C>A (p.Gln203Lys)
|
rs750711842
|
|
NM_000551.4(VHL):c.610G>C (p.Glu204Gln)
|
rs758853661
|
|
NM_000551.4(VHL):c.613C>G (p.Arg205Gly)
|
rs199926195
|
|
NM_000551.4(VHL):c.65A>G (p.Glu22Gly)
|
rs2125124570
|
|
NM_000551.4(VHL):c.82G>A (p.Asp28Asn)
|
rs1553619319
|
|
NM_000552.5(VWF):c.1117C>T (p.Arg373Ter)
|
rs62643625
|
|
NM_000552.5(VWF):c.1673A>G (p.Asp558Gly)
|
|
|
NM_000552.5(VWF):c.2067C>A (p.Cys689Ter)
|
|
|
NM_000552.5(VWF):c.2094G>T (p.Arg698Ser)
|
|
|
NM_000552.5(VWF):c.303C>G (p.Thr101=)
|
|
|
NM_000552.5(VWF):c.3175T>C (p.Ser1059Pro)
|
|
|
NM_000552.5(VWF):c.3380-11T>A
|
|
|
NM_000552.5(VWF):c.3797C>A (p.Pro1266Gln)
|
rs61749370
|
|
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu)
|
rs61749370
|
|
NM_000552.5(VWF):c.4120C>T (p.Arg1374Cys)
|
rs61750071
|
|
NM_000552.5(VWF):c.5312-2_5312-1del
|
|
|
NM_000552.5(VWF):c.6334C>T (p.Gln2112Ter)
|
|
|
NM_000552.5(VWF):c.799G>A (p.Ala267Thr)
|
|
|
NM_000552.5(VWF):c.8027G>T (p.Cys2676Phe)
|
|
|
NM_000552.5(VWF):c.8143T>A (p.Cys2715Ser)
|
|
|
NM_000552.5(VWF):c.8165del (p.Pro2722fs)
|
|
|
NM_000558.5(HBA1):c.113CCA[2] (p.Thr40del)
|
rs63751150
|
|
NM_000574.5(CD55):c.286+1G>A
|
rs376304458
|
|
NM_000587.4(C7):c.*96TCT[1]
|
|
|
NM_000587.4(C7):c.1561C>A (p.Arg521Ser)
|
rs121964920
|
|
NM_000701.8(ATP1A1):c.2629G>A (p.Gly877Ser)
|
|
|
NM_000791.4(DHFR):c.-189G>C
|
|
|
NM_000791.4(DHFR):c.-204T>A
|
|
|
NM_000791.4(DHFR):c.-213G>C
|
|
|
NM_000791.4(DHFR):c.-214C>T
|
|
|
NM_000791.4(DHFR):c.-231C>A
|
|
|
NM_000791.4(DHFR):c.-264C>A
|
rs369278563
|
|
NM_000791.4(DHFR):c.-303G>T
|
rs1749190564
|
|
NM_000791.4(DHFR):c.-397C>G
|
|
|
NM_000791.4(DHFR):c.-400del
|
|
|
NM_000791.4(DHFR):c.-406CGCTGCAGC[1]
|
rs758595508
|
|
NM_000791.4(DHFR):c.-406CGCTGCAGC[3]
|
rs758595508
|
|
NM_000791.4(DHFR):c.-408_-390del
|
|
|
NM_000791.4(DHFR):c.-408_-399del
|
|
|
NM_000791.4(DHFR):c.-410_-400del
|
|
|
NM_000791.4(DHFR):c.-415_-400del
|
|
|
NM_000791.4(DHFR):c.-416_-415insGCTGGGGG
|
|
|
NM_000791.4(DHFR):c.-416_-415insTGGGGG
|
rs755017868
|
|
NM_000791.4(DHFR):c.-417_-416insGCG
|
rs1554066077
|
|
NM_000791.4(DHFR):c.-417_-416insGCGCTGCGGCCGCTGCGG
|
rs758718643
|
|
NM_000791.4(DHFR):c.-418GGCCGCTGC[1]
|
rs758960105
|
|
NM_000791.4(DHFR):c.-418GGCCGCTGC[3]
|
rs758960105
|
|
NM_000791.4(DHFR):c.-418_-392del
|
|
|
NM_000791.4(DHFR):c.-419_-418insTGGG
|
|
|
NM_000791.4(DHFR):c.-420GGGGGCGCT[2]G[5]CG[1]
|
|
|
NM_000791.4(DHFR):c.-420G[5]CGCTGGGGGCG[1]
|
rs1554066079
|
|
NM_000791.4(DHFR):c.-420G[5]CG[1]
|
rs1554066079
|
|
NM_000791.4(DHFR):c.-420_-419insGGGGCGCTGCGGCCGCTG
|
|
|
NM_000791.4(DHFR):c.-420_-419insGGGGCGCTGCGGGCGCTG
|
|
|
NM_000791.4(DHFR):c.-424_-420CGCTGGGGG[2]CGCTGGGGCCGCTG[1]
|
|
|
NM_000791.4(DHFR):c.-425G>A
|
|
|
NM_000791.4(DHFR):c.-425GCGCTGCGG[3]
|
|
|
NM_000791.4(DHFR):c.-425_-417dup
|
rs1554066076
|
|
NM_000791.4(DHFR):c.-428G>C
|
|
|
NM_000791.4(DHFR):c.-428_-411dup
|
|
|
NM_000791.4(DHFR):c.-437GGGGCGCTG[1]
|
rs60484572
|
|
NM_000791.4(DHFR):c.-437GGGGCGCTG[3]
|
rs60484572
|
|
NM_000791.4(DHFR):c.-437GGGGCGCTG[4]
|
rs60484572
|
|
NM_000791.4(DHFR):c.-437GGGGCGCTG[5]
|
rs60484572
|
|
NM_000791.4(DHFR):c.-437GGGGCGCTG[6]
|
rs60484572
|
|
NM_000791.4(DHFR):c.-437GGGGCGCTG[7]
|
|
|
NM_000791.4(DHFR):c.-440C>G
|
rs1223470400
|
|
NM_000791.4(DHFR):c.-442A>C
|
|
|
NM_000791.4(DHFR):c.-444G>A
|
|
|
NM_000799.4(EPO):c.-203C>A
|
|
|
NM_000962.4(PTGS1):c.994C>T (p.Arg332Cys)
|
|
|
NM_000975.5(RPL11):c.165C>A (p.Tyr55Ter)
|
|
|
NM_001006658.3(CR2):c.2333G>C (p.Cys778Ser)
|
|
|
NM_001006658.3(CR2):c.2851CTT[1] (p.Leu952del)
|
rs757707093
|
|
NM_001013625.4(CFAP126):c.233G>T (p.Arg78Leu)
|
|
|
NM_001018115.3(FANCD2):c.1545+3A>G
|
|
|
NM_001023.4(RPS20):c.*21G>A
|
|
|
NM_001023.4(RPS20):c.*21del
|
|
|
NM_001023.4(RPS20):c.-22A>G
|
|
|
NM_001023.4(RPS20):c.-33A>T
|
|
|
NM_001023.4(RPS20):c.-3G>T
|
|
|
NM_001023.4(RPS20):c.-44C>T
|
|
|
NM_001023.4(RPS20):c.103+20G>A
|
|
|
NM_001023.4(RPS20):c.103+22G>T
|
|
|
NM_001023.4(RPS20):c.104-16C>T
|
|
|
NM_001023.4(RPS20):c.119T>G (p.Ile40Arg)
|
|
|
NM_001023.4(RPS20):c.177+12C>T
|
rs752988623
|
|
NM_001023.4(RPS20):c.177+14G>A
|
|
|
NM_001023.4(RPS20):c.177+19dup
|
rs34275230
|
|
NM_001023.4(RPS20):c.177+37T>C
|
|
|
NM_001023.4(RPS20):c.178-9_178-8del
|
|
|
NM_001023.4(RPS20):c.266T>C (p.Ile89Thr)
|
|
|
NM_001023.4(RPS20):c.270C>T (p.Asp90=)
|
rs199637313
|
|
NM_001023.4(RPS20):c.3+21G>A
|
|
|
NM_001023.4(RPS20):c.3+29C>T
|
|
|
NM_001023.4(RPS20):c.30C>A (p.Pro10=)
|
|
|
NM_001023.4(RPS20):c.30C>T (p.Pro10=)
|
|
|
NM_001023.4(RPS20):c.356C>G (p.Ala119Gly)
|
|
|
NM_001023.4(RPS20):c.4-39T>A
|
|
|
NM_001023.4(RPS20):c.4-3T>C
|
rs7841901
|
|
NM_001023.4(RPS20):c.4-40A>G
|
|
|
NM_001023.4(RPS20):c.4-45A>G
|
|
|
NM_001023.4(RPS20):c.84C>T (p.Asn28=)
|
|
|
NM_001023.4(RPS20):c.98A>T (p.Glu33Val)
|
|
|
NM_001025603.2(RFX5):c.1317_1320del (p.Ser439fs)
|
|
|
NM_001035.3(RYR2):c.11866A>G (p.Met3956Val)
|
|
|
NM_001040108.2(MLH3):c.1153G>C (p.Asp385His)
|
rs201389281
|
|
NM_001040108.2(MLH3):c.124del (p.Ala42fs)
|
|
|
NM_001040108.2(MLH3):c.1363G>A (p.Glu455Lys)
|
|
|
NM_001040108.2(MLH3):c.1387A>C (p.Ser463Arg)
|
rs138974583
|
|
NM_001040108.2(MLH3):c.139A>G (p.Met47Val)
|
|
|
NM_001040108.2(MLH3):c.1424C>A (p.Thr475Lys)
|
rs376219506
|
|
NM_001040108.2(MLH3):c.1484G>T (p.Ser495Ile)
|
|
|
NM_001040108.2(MLH3):c.149T>A (p.Phe50Tyr)
|
rs148409389
|
|
NM_001040108.2(MLH3):c.1534T>C (p.Phe512Leu)
|
|
|
NM_001040108.2(MLH3):c.154G>A (p.Val52Ile)
|
|
|
NM_001040108.2(MLH3):c.1729dup (p.Ala577fs)
|
|
|
NM_001040108.2(MLH3):c.1732C>G (p.Gln578Glu)
|
|
|
NM_001040108.2(MLH3):c.1809A>G (p.Leu603=)
|
|
|
NM_001040108.2(MLH3):c.1860_1862del (p.Thr621del)
|
|
|
NM_001040108.2(MLH3):c.1909C>T (p.Arg637Cys)
|
|
|
NM_001040108.2(MLH3):c.1950T>C (p.Val650=)
|
|
|
NM_001040108.2(MLH3):c.1970A>T (p.Asp657Val)
|
|
|
NM_001040108.2(MLH3):c.2004A>G (p.Gln668=)
|
rs2139571852
|
|
NM_001040108.2(MLH3):c.2156G>C (p.Trp719Ser)
|
|
|
NM_001040108.2(MLH3):c.2213A>G (p.Lys738Arg)
|
|
|
NM_001040108.2(MLH3):c.2221G>A (p.Val741Ile)
|
rs28756990
|
|
NM_001040108.2(MLH3):c.2307T>C (p.Asp769=)
|
|
|
NM_001040108.2(MLH3):c.2309C>T (p.Thr770Ile)
|
|
|
NM_001040108.2(MLH3):c.2445T>A (p.Asp815Glu)
|
|
|
NM_001040108.2(MLH3):c.2503G>A (p.Asp835Asn)
|
rs766153131
|
|
NM_001040108.2(MLH3):c.2523A>G (p.Gln841=)
|
rs1892295538
|
|
NM_001040108.2(MLH3):c.2649C>T (p.Ser883=)
|
|
|
NM_001040108.2(MLH3):c.2702A>G (p.Asn901Ser)
|
|
|
NM_001040108.2(MLH3):c.2715T>G (p.Ser905Arg)
|
|
|
NM_001040108.2(MLH3):c.2963T>C (p.Ile988Thr)
|
|
|
NM_001040108.2(MLH3):c.3011T>C (p.Met1004Thr)
|
|
|
NM_001040108.2(MLH3):c.3040G>A (p.Gly1014Ser)
|
|
|
NM_001040108.2(MLH3):c.305A>G (p.Asp102Gly)
|
|
|
NM_001040108.2(MLH3):c.3281-35G>T
|
|
|
NM_001040108.2(MLH3):c.3379+40C>T
|
|
|
NM_001040108.2(MLH3):c.3450del (p.Phe1150fs)
|
|
|
NM_001040108.2(MLH3):c.3465+36_3465+37dup
|
|
|
NM_001040108.2(MLH3):c.3465+37T>C
|
|
|
NM_001040108.2(MLH3):c.3465+37del
|
rs34505842
|
|
NM_001040108.2(MLH3):c.3465+37dup
|
rs34505842
|
|
NM_001040108.2(MLH3):c.3465+38C>T
|
|
|
NM_001040108.2(MLH3):c.3465+38CTT[4]
|
rs202056794
|
|
NM_001040108.2(MLH3):c.3465+4G>A
|
|
|
NM_001040108.2(MLH3):c.3519C>T (p.His1173=)
|
|
|
NM_001040108.2(MLH3):c.356C>T (p.Thr119Ile)
|
rs2139607474
|
|
NM_001040108.2(MLH3):c.3570+27_3570+28insTAT
|
|
|
NM_001040108.2(MLH3):c.3570+27_3570+28insTATAT
|
rs34231080
|
|
NM_001040108.2(MLH3):c.3570+27_3570+28insTATATATAT
|
rs34231080
|
|
NM_001040108.2(MLH3):c.3570+27_3570+28insTATATATATAT
|
|
|
NM_001040108.2(MLH3):c.3570+27_3570+28insTATATATATATAT
|
|
|
NM_001040108.2(MLH3):c.3570+28_3570+29insT
|
rs777236904
|
|
NM_001040108.2(MLH3):c.3570+29AT[10]
|
rs145063005
|
|
NM_001040108.2(MLH3):c.3570+29AT[23]
|
|
|
NM_001040108.2(MLH3):c.3570+29AT[24]
|
|
|
NM_001040108.2(MLH3):c.3570+29AT[7]
|
|
|
NM_001040108.2(MLH3):c.3570+29AT[8]
|
|
|
NM_001040108.2(MLH3):c.3570+29AT[9]
|
rs145063005
|
|
NM_001040108.2(MLH3):c.3570+30_3570+31insATTATAT
|
|
|
NM_001040108.2(MLH3):c.3643+16A>G
|
|
|
NM_001040108.2(MLH3):c.3643+25G>A
|
|
|
NM_001040108.2(MLH3):c.3643+44T>C
|
|
|
NM_001040108.2(MLH3):c.3643+8T>C
|
rs2139454537
|
|
NM_001040108.2(MLH3):c.3644-25A>G
|
|
|
NM_001040108.2(MLH3):c.3653T>A (p.Leu1218Gln)
|
rs1208714560
|
|
NM_001040108.2(MLH3):c.367C>T (p.Leu123=)
|
|
|
NM_001040108.2(MLH3):c.3716-24A>G
|
|
|
NM_001040108.2(MLH3):c.3731A>C (p.Gln1244Pro)
|
|
|
NM_001040108.2(MLH3):c.376A>G (p.Ser126Gly)
|
rs2139607094
|
|
NM_001040108.2(MLH3):c.3786G>T (p.Pro1262=)
|
rs28757027
|
|
NM_001040108.2(MLH3):c.3827+11C>T
|
|
|
NM_001040108.2(MLH3):c.3827+7A>G
|
|
|
NM_001040108.2(MLH3):c.3828-24del
|
rs761256304
|
|
NM_001040108.2(MLH3):c.3828-24dup
|
rs761256304
|
|
NM_001040108.2(MLH3):c.3856G>A (p.Gly1286Ser)
|
|
|
NM_001040108.2(MLH3):c.3919T>A (p.Cys1307Ser)
|
|
|
NM_001040108.2(MLH3):c.3988-14C>G
|
rs2139329191
|
|
NM_001040108.2(MLH3):c.3988-34G>A
|
|
|
NM_001040108.2(MLH3):c.4011+3A>C
|
|
|
NM_001040108.2(MLH3):c.4011+46A>G
|
|
|
NM_001040108.2(MLH3):c.4090+38C>T
|
|
|
NM_001040108.2(MLH3):c.4090+39_4090+61del
|
|
|
NM_001040108.2(MLH3):c.4091-39A>G
|
|
|
NM_001040108.2(MLH3):c.4091-6A>T
|
rs748704267
|
|
NM_001040108.2(MLH3):c.4118G>A (p.Ser1373Asn)
|
|
|
NM_001040108.2(MLH3):c.4173C>T (p.Phe1391=)
|
|
|
NM_001040108.2(MLH3):c.4242+40T>C
|
|
|
NM_001040108.2(MLH3):c.4291C>T (p.Leu1431Phe)
|
|
|
NM_001040108.2(MLH3):c.47G>A (p.Gly16Asp)
|
|
|
NM_001040108.2(MLH3):c.735CAA[1] (p.Asn246del)
|
rs774010757
|
|
NM_001040108.2(MLH3):c.755T>G (p.Leu252Trp)
|
|
|
NM_001040108.2(MLH3):c.788A>G (p.Lys263Arg)
|
rs2139599317
|
|
NM_001040108.2(MLH3):c.871A>T (p.Asn291Tyr)
|
|
|
NM_001040108.2(MLH3):c.885G>T (p.Arg295=)
|
|
|
NM_001040108.2(MLH3):c.983_986del (p.Ile328fs)
|
|
|
NM_001040458.3(ERAP1):c.1861_1864del (p.Thr621fs)
|
|
|
NM_001042492.3(NF1):c.1940A>G (p.His647Arg)
|
rs1170252879
|
|
NM_001042492.3(NF1):c.3198-4del
|
rs371047262
|
|
NM_001042492.3(NF1):c.3198-5_3198-4dup
|
rs371047262
|
|
NM_001042492.3(NF1):c.3198-7_3198-4dup
|
rs371047262
|
|
NM_001042492.3(NF1):c.3198-9_3198-4dup
|
rs371047262
|
|
NM_001042492.3(NF1):c.3827G>C (p.Arg1276Pro)
|
rs137854556
|
|
NM_001042492.3(NF1):c.3974+49del
|
rs59745739
|
|
NM_001042492.3(NF1):c.3974+49dup
|
rs59745739
|
|
NM_001042492.3(NF1):c.4836-28663G>A
|
|
|
NM_001042492.3(NF1):c.5609+5del
|
|
|
NM_001042492.3(NF1):c.61-4del
|
rs551568608
|
|
NM_001042492.3(NF1):c.6148-17_6148-16insCA
|
rs2151554187
|
|
NM_001042492.3(NF1):c.6148-17del
|
|
|
NM_001042492.3(NF1):c.6148-28del
|
rs398100472
|
|
NM_001042492.3(NF1):c.6148-29_6148-28del
|
rs398100472
|
|
NM_001042492.3(NF1):c.6805C>T (p.Arg2269Cys)
|
rs1555534961
|
|
NM_001042492.3(NF1):c.7190-33TTGT[7]
|
rs149197458
|
|
NM_001042492.3(NF1):c.730+32del
|
rs71142032
|
|
NM_001048174.2(MUTYH):c.*26A>C
|
|
|
NM_001048174.2(MUTYH):c.*34GTT[1]
|
rs373507005
|
|
NM_001048174.2(MUTYH):c.*8_*18del
|
|
|
NM_001048174.2(MUTYH):c.1008_1009insCAGGC (p.Lys337fs)
|
|
|
NM_001048174.2(MUTYH):c.1063del (p.Ala357fs)
|
rs587778536
|
|
NM_001048174.2(MUTYH):c.1102+16G>A
|
rs1644883947
|
|
NM_001048174.2(MUTYH):c.1103-4T>A
|
rs1570377661
|
|
NM_001048174.2(MUTYH):c.1131G>T (p.Pro377=)
|
rs876659935
|
|
NM_001048174.2(MUTYH):c.116-54C>G
|
rs367908623
|
|
NM_001048174.2(MUTYH):c.116-55C>T
|
rs1316542179
|
|
NM_001048174.2(MUTYH):c.1191G>C (p.Gln397His)
|
|
|
NM_001048174.2(MUTYH):c.1193G>A (p.Arg398His)
|
rs748700385
|
|
NM_001048174.2(MUTYH):c.1240-40T>C
|
|
|
NM_001048174.2(MUTYH):c.1256C>T (p.Ser419Phe)
|
|
|
NM_001048174.2(MUTYH):c.1330G>C (p.Gly444Arg)
|
rs758262369
|
|
NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del)
|
rs587778541
|
|
NM_001048174.2(MUTYH):c.1366_1367insT (p.Ala456fs)
|
|
|
NM_001048174.2(MUTYH):c.1380C>A (p.Thr460=)
|
|
|
NM_001048174.2(MUTYH):c.1393-27C>T
|
|
|
NM_001048174.2(MUTYH):c.1393-9_1393-7del
|
rs763940868
|
|
NM_001048174.2(MUTYH):c.13C>T (p.Arg5Ter)
|
rs587780088
|
|
NM_001048174.2(MUTYH):c.1435-12A>G
|
|
|
NM_001048174.2(MUTYH):c.1435-37C>G
|
|
|
NM_001048174.2(MUTYH):c.1486A>G (p.Met496Val)
|
rs587780080
|
|
NM_001048174.2(MUTYH):c.168C>A (p.Tyr56Ter)
|
rs1645371113
|
|
NM_001048174.2(MUTYH):c.200C>A (p.Ala67Asp)
|
rs1645363196
|
|
NM_001048174.2(MUTYH):c.228C>A (p.Tyr76Ter)
|
rs121908380
|
|
NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=)
|
rs121908380
|
|
NM_001048174.2(MUTYH):c.264+25G>A
|
rs1645334713
|
|
NM_001048174.2(MUTYH):c.265-37dup
|
|
|
NM_001048174.2(MUTYH):c.265-44C>T
|
|
|
NM_001048174.2(MUTYH):c.295G>A (p.Ala99Thr)
|
rs746112825
|
|
NM_001048174.2(MUTYH):c.299A>T (p.Tyr100Phe)
|
|
|
NM_001048174.2(MUTYH):c.300T>A (p.Tyr100Ter)
|
rs774798236
|
|
NM_001048174.2(MUTYH):c.304+33G>T
|
|
|
NM_001048174.2(MUTYH):c.304+5G>C
|
|
|
NM_001048174.2(MUTYH):c.317_318del (p.Glu106fs)
|
rs2149166157
|
|
NM_001048174.2(MUTYH):c.369_374dup (p.Trp124_Met125insIleTrp)
|
rs876660190
|
|
NM_001048174.2(MUTYH):c.378+9A>G
|
|
|
NM_001048174.2(MUTYH):c.379-12C>T
|
|
|
NM_001048174.2(MUTYH):c.379-49A>G
|
|
|
NM_001048174.2(MUTYH):c.462T>C (p.Arg154=)
|
rs754912875
|
|
NM_001048174.2(MUTYH):c.548T>G (p.Leu183Arg)
|
rs1645145092
|
|
NM_001048174.2(MUTYH):c.605A>G (p.Gln202Arg)
|
rs1645128943
|
|
NM_001048174.2(MUTYH):c.606+21C>A
|
rs148552450
|
|
NM_001048174.2(MUTYH):c.606+21C>G
|
rs148552450
|
|
NM_001048174.2(MUTYH):c.606+43C>G
|
|
|
NM_001048174.2(MUTYH):c.633A>G (p.Val211=)
|
rs1557474374
|
|
NM_001048174.2(MUTYH):c.652G>A (p.Val218Ile)
|
rs587780749
|
|
NM_001048174.2(MUTYH):c.704+38C>T
|
rs2149141851
|
|
NM_001048174.2(MUTYH):c.716A>C (p.Gln239Pro)
|
rs1553127846
|
|
NM_001048174.2(MUTYH):c.860A>G (p.Glu287Gly)
|
rs1557468846
|
|
NM_001048174.2(MUTYH):c.885G>C (p.Leu295=)
|
|
|
NM_001048174.2(MUTYH):c.914-25A>G
|
|
|
NM_001048174.2(MUTYH):c.948T>A (p.Pro316=)
|
|
|
NM_001048174.2(MUTYH):c.953C>G (p.Ser318Trp)
|
rs587778538
|
|
NM_001048174.2(MUTYH):c.971C>T (p.Thr324Ile)
|
rs587781703
|
|
NM_001065.4(TNFRSF1A):c.551+1067_551+1068dup
|
|
|
NM_001079872.2(CUL4B):c.1108C>T (p.Arg370Ter)
|
rs121434616
|
|
NM_001082486.2(ACD):c.*43T>C
|
|
|
NM_001082486.2(ACD):c.-29C>G
|
rs534010648
|
|
NM_001082486.2(ACD):c.-9G>C
|
rs377247506
|
|
NM_001082486.2(ACD):c.100-29G>A
|
|
|
NM_001082486.2(ACD):c.1019C>T (p.Pro340Leu)
|
rs2142968039
|
|
NM_001082486.2(ACD):c.1050C>A (p.Pro350=)
|
|
|
NM_001082486.2(ACD):c.1074C>A (p.His358Gln)
|
|
|
NM_001082486.2(ACD):c.1078G>A (p.Ala360Thr)
|
|
|
NM_001082486.2(ACD):c.1091G>C (p.Arg364Thr)
|
|
|
NM_001082486.2(ACD):c.1111G>A (p.Glu371Lys)
|
|
|
NM_001082486.2(ACD):c.1204T>G (p.Trp402Gly)
|
|
|
NM_001082486.2(ACD):c.1207-29C>G
|
|
|
NM_001082486.2(ACD):c.1231G>C (p.Gly411Arg)
|
|
|
NM_001082486.2(ACD):c.1299-28T>C
|
|
|
NM_001082486.2(ACD):c.187G>C (p.Gly63Arg)
|
rs769728392
|
|
NM_001082486.2(ACD):c.242+9C>A
|
|
|
NM_001082486.2(ACD):c.243-13C>T
|
|
|
NM_001082486.2(ACD):c.243-41T>C
|
|
|
NM_001082486.2(ACD):c.243-48G>A
|
|
|
NM_001082486.2(ACD):c.266G>T (p.Arg89Leu)
|
|
|
NM_001082486.2(ACD):c.337-18C>T
|
|
|
NM_001082486.2(ACD):c.337-21dup
|
rs745664221
|
|
NM_001082486.2(ACD):c.337-35T>C
|
|
|
NM_001082486.2(ACD):c.337-42G>C
|
|
|
NM_001082486.2(ACD):c.414-11C>T
|
|
|
NM_001082486.2(ACD):c.414-17C>G
|
rs1291861643
|
|
NM_001082486.2(ACD):c.41G>C (p.Arg14Pro)
|
|
|
NM_001082486.2(ACD):c.458+20C>T
|
|
|
NM_001082486.2(ACD):c.458+35G>A
|
|
|
NM_001082486.2(ACD):c.459-35A>C
|
|
|
NM_001082486.2(ACD):c.459-6C>G
|
|
|
NM_001082486.2(ACD):c.493+1G>T
|
|
|
NM_001082486.2(ACD):c.493+49T>A
|
|
|
NM_001082486.2(ACD):c.494-23A>C
|
|
|
NM_001082486.2(ACD):c.585G>A (p.Leu195=)
|
|
|
NM_001082486.2(ACD):c.609T>G (p.Pro203=)
|
|
|
NM_001082486.2(ACD):c.645+2T>C
|
|
|
NM_001082486.2(ACD):c.646-32C>T
|
|
|
NM_001082486.2(ACD):c.646-38_646-37del
|
rs776518322
|
|
NM_001082486.2(ACD):c.706A>T (p.Ile236Phe)
|
rs757807430
|
|
NM_001082486.2(ACD):c.743-39C>T
|
|
|
NM_001082486.2(ACD):c.803C>T (p.Ser268Phe)
|
|
|
NM_001082486.2(ACD):c.813C>T (p.Ser271=)
|
rs878924464
|
|
NM_001082486.2(ACD):c.817_828del (p.Pro273_Ser276del)
|
rs777131279
|
|
NM_001082486.2(ACD):c.830-11C>T
|
|
|
NM_001082486.2(ACD):c.830-39G>A
|
|
|
NM_001082486.2(ACD):c.844C>A (p.Pro282Thr)
|
|
|
NM_001082486.2(ACD):c.868A>G (p.Ser290Gly)
|
rs2142968732
|
|
NM_001082486.2(ACD):c.87G>A (p.Gly29=)
|
|
|
NM_001082486.2(ACD):c.924G>A (p.Gly308=)
|
|
|
NM_001082486.2(ACD):c.960C>T (p.Cys320=)
|
|
|
NM_001082486.2(ACD):c.974C>A (p.Thr325Asn)
|
rs777812658
|
|
NM_001082486.2(ACD):c.987G>A (p.Arg329=)
|
rs368215405
|
|
NM_001082486.2(ACD):c.99+24A>G
|
|
|
NM_001082486.2(ACD):c.99+5G>A
|
|
|
NM_001083603.3(PTCH1):c.154G>A (p.Glu52Lys)
|
|
|
NM_001083603.3(PTCH1):c.44G>C (p.Arg15Pro)
|
|
|
NM_001099274.3(TINF2):c.1061+14A>G
|
rs1040503982
|
|
NM_001099274.3(TINF2):c.192+30AAAG[2]
|
|
|
NM_001099274.3(TINF2):c.193-33C>G
|
|
|
NM_001099274.3(TINF2):c.399+32A>G
|
|
|
NM_001099274.3(TINF2):c.508-42T>C
|
|
|
NM_001104631.2(PDE4D):c.1534_1537del (p.Gln512fs)
|
|
|
NM_001114122.3(CHEK1):c.1036C>T (p.Gln346Ter)
|
|
|
NM_001127208.3(TET2):c.2271_2277del (p.Gln758fs)
|
|
|
NM_001127208.3(TET2):c.3788G>A (p.Cys1263Tyr)
|
|
|
NM_001127511.3(APC):c.-109C>T
|
rs761634030
|
|
NM_001127511.3(APC):c.-123C>T
|
rs185346146
|
|
NM_001127511.3(APC):c.-126G>T
|
rs948080320
|
|
NM_001127511.3(APC):c.-126dup
|
rs565045828
|
|
NM_001127511.3(APC):c.-131G>C
|
rs572582235
|
|
NM_001127511.3(APC):c.-131G>T
|
rs572582235
|
|
NM_001127511.3(APC):c.-132G>T
|
rs182500056
|
|
NM_001127511.3(APC):c.-133C>G
|
rs79896135
|
|
NM_001127511.3(APC):c.-133C>T
|
rs79896135
|
|
NM_001127511.3(APC):c.-133_-132insA
|
rs1750582620
|
|
NM_001127511.3(APC):c.-134_-133insG
|
rs1561393341
|
|
NM_001127511.3(APC):c.-140C>A
|
rs775297664
|
|
NM_001127511.3(APC):c.-140C>G
|
rs775297664
|
|
NM_001127511.3(APC):c.-182G>A
|
rs1554060189
|
|
NM_001127511.3(APC):c.-191T>C
|
rs879253783
|
|
NM_001127511.3(APC):c.-207C>T
|
|
|
NM_001127511.3(APC):c.-35G>A
|
|
|
NM_001127511.3(APC):c.123G>A (p.Pro41=)
|
rs1189155420
|
|
NM_001127511.3(APC):c.165+3G>A
|
|
|
NM_001127511.3(APC):c.1A>T (p.Met1Leu)
|
rs189807660
|
|
NM_001127511.3(APC):c.91A>G (p.Arg31Gly)
|
rs1302045127
|
|
NM_001127644.2(GABRA1):c.472A>G (p.Met158Val)
|
|
|
NM_001128425.2(MUTYH):c.187G>A (p.Gly63Arg)
|
rs541110664
|
|
NM_001128425.2(MUTYH):c.196G>A (p.Ala66Thr)
|
rs1064793421
|
|
NM_001130004.2(ACTN1):c.2225G>T (p.Gly742Val)
|
|
|
NM_001130987.2(DYSF):c.4254dup (p.Ile1419fs)
|
rs398123786
|
|
NM_001134407.3(GRIN2A):c.1A>T (p.Met1Leu)
|
|
|
NM_001142864.4(PIEZO1):c.1303A>G (p.Ser435Gly)
|
|
|
NM_001142864.4(PIEZO1):c.1930G>C (p.Val644Leu)
|
|
|
NM_001142864.4(PIEZO1):c.1960G>C (p.Ala654Pro)
|
|
|
NM_001142864.4(PIEZO1):c.2218_2229dup (p.Glu743_His744insGluGlnGlnGlu)
|
|
|
NM_001142864.4(PIEZO1):c.2247GGA[9] (p.Glu756dup)
|
rs59446030
|
|
NM_001142864.4(PIEZO1):c.3029G>A (p.Arg1010His)
|
|
|
NM_001142864.4(PIEZO1):c.3502T>G (p.Trp1168Gly)
|
|
|
NM_001142864.4(PIEZO1):c.4246G>A (p.Gly1416Arg)
|
|
|
NM_001142864.4(PIEZO1):c.4556A>C (p.Gln1519Pro)
|
|
|
NM_001142864.4(PIEZO1):c.4957C>T (p.Arg1653Cys)
|
|
|
NM_001142864.4(PIEZO1):c.5181G>C (p.Lys1727Asn)
|
|
|
NM_001142864.4(PIEZO1):c.5296A>C (p.Lys1766Gln)
|
|
|
NM_001142864.4(PIEZO1):c.5772del (p.Arg1925fs)
|
|
|
NM_001142864.4(PIEZO1):c.5975C>T (p.Thr1992Met)
|
|
|
NM_001142864.4(PIEZO1):c.6058G>A (p.Ala2020Thr)
|
rs587776989
|
|
NM_001142864.4(PIEZO1):c.6835C>T (p.Arg2279Cys)
|
|
|
NM_001142864.4(PIEZO1):c.7367G>A (p.Arg2456His)
|
rs587776988
|
|
NM_001142864.4(PIEZO1):c.7447G>A (p.Asp2483Asn)
|
|
|
NM_001142864.4(PIEZO1):c.7477CTGGAG[3] (p.2493LE[3])
|
rs587776992
|
|
NM_001146227.3(RPS20):c.*25T>A
|
|
|
NM_001146227.3(RPS20):c.*34A>C
|
|
|
NM_001146227.3(RPS20):c.*35+8T>A
|
|
|
NM_001146227.3(RPS20):c.334-22del
|
|
|
NM_001146227.3(RPS20):c.334-25_334-22del
|
|
|
NM_001146227.3(RPS20):c.334-32C>G
|
|
|
NM_001146227.3(RPS20):c.334-45T>C
|
|
|
NM_001146227.3(RPS20):c.334-9G>C
|
|
|
NM_001146227.3(RPS20):c.350A>T (p.Asp117Val)
|
|
|
NM_001146227.3(RPS20):c.418T>C (p.Cys140Arg)
|
|
|
NM_001170629.2(CHD8):c.3725G>T (p.Arg1242Leu)
|
|
|
NM_001171038.2(ASMT):c.562+2T>C
|
|
|
NM_001171038.2(ASMT):c.706G>A (p.Val236Ile)
|
|
|
NM_001172303.3(MASTL):c.661-2A>G
|
|
|
NM_001202559.1(CHURC1-FNTB):c.465+8C>A
|
|
|
NM_001202559.1(CHURC1-FNTB):c.789-16G>A
|
|
|
NM_001206744.2(TPO):c.1184_1187dup (p.Ala397fs)
|
rs763941231
|
|
NM_001253823.1(BLVRA):c.131C>A (p.Ser44Ter)
|
rs387906596
|
|
NM_001267550.2(TTN):c.1364C>T (p.Thr455Met)
|
rs368121196
|
|
NM_001270508.2(TNFAIP3):c.1129G>A (p.Val377Met)
|
|
|
NM_001271696.3(ABCB7):c.101T>C (p.Val34Ala)
|
|
|
NM_001271696.3(ABCB7):c.660T>A (p.Asn220Lys)
|
|
|
NM_001282426.2(PIK3CG):c.1499A>G (p.Asp500Gly)
|
|
|
NM_001283009.2(RTEL1):c.1949dup (p.Arg651fs)
|
|
|
NM_001322934.2(NFKB2):c.1129G>C (p.Gly377Arg)
|
|
|
NM_001348800.3(ZBTB20):c.1714C>T (p.Gln572Ter)
|
|
|
NM_001353345.2(SETD1B):c.2978-2A>G
|
|
|
NM_001354604.2(MITF):c.105-40T>C
|
rs1226144443
|
|
NM_001354712.2(THRB):c.1012C>T (p.Arg338Trp)
|
rs121918697
|
|
NM_001354930.2(RIPK1):c.1577-1G>A
|
|
|
NM_001355436.2(SPTB):c.134T>A (p.Ile45Lys)
|
|
|
NM_001355436.2(SPTB):c.1987del (p.Leu663fs)
|
|
|
NM_001355436.2(SPTB):c.2588G>A (p.Trp863Ter)
|
|
|
NM_001355436.2(SPTB):c.3507del (p.Phe1170fs)
|
|
|
NM_001355436.2(SPTB):c.3763A>G (p.Arg1255Gly)
|
|
|
NM_001355436.2(SPTB):c.3855+1del
|
|
|
NM_001355436.2(SPTB):c.404C>A (p.Ser135Tyr)
|
rs2139637283
|
|
NM_001355436.2(SPTB):c.4873C>T (p.Arg1625Ter)
|
rs2139511447
|
|
NM_001355436.2(SPTB):c.5654G>A (p.Trp1885Ter)
|
|
|
NM_001355436.2(SPTB):c.6119_6120del (p.Thr2040fs)
|
rs2139480757
|
|
NM_001355436.2(SPTB):c.640A>T (p.Lys214Ter)
|
|
|
NM_001355436.2(SPTB):c.823_825del (p.His275del)
|
|
|
NM_001355436.2(SPTB):c.885_887dup (p.His296_Ala297insHis)
|
|
|
NM_001356.5(DDX3X):c.1537G>C (p.Val513Leu)
|
rs2063927856
|
|
NM_001360.3(DHCR7):c.964-1G>C
|
rs138659167
|
|
NM_001360016.2(G6PD):c.148C>T (p.Pro50Ser)
|
|
|
NM_001363763.2(CDKN2A):c.-4+319G>C
|
|
|
NM_001363763.2(CDKN2A):c.-4+321G>C
|
|
|
NM_001363763.2(CDKN2A):c.-4+350G>A
|
|
|
NM_001363763.2(CDKN2A):c.-4+384C>T
|
|
|
NM_001363763.2(CDKN2A):c.-4+388G>C
|
|
|
NM_001364905.1(LRBA):c.5519-1G>A
|
rs1302362911
|
|
NM_001365276.2(TNXB):c.5767C>T (p.Gln1923Ter)
|
|
|
NM_001365276.2(TNXB):c.8143+1G>A
|
|
|
NM_001367721.1(CASK):c.2040-1G>A
|
rs1555977269
|
|
NM_001370259.2(MEN1):c.*3T>A
|
|
|
NM_001370259.2(MEN1):c.-13A>C
|
|
|
NM_001370259.2(MEN1):c.-23-13G>A
|
rs757883651
|
|
NM_001370259.2(MEN1):c.-23-15C>G
|
|
|
NM_001370259.2(MEN1):c.-46T>A
|
|
|
NM_001370259.2(MEN1):c.1030A>C (p.Thr344Pro)
|
|
|
NM_001370259.2(MEN1):c.1050-137C>A
|
|
|
NM_001370259.2(MEN1):c.1252G>A (p.Asp418Asn)
|
rs104894264
|
|
NM_001370259.2(MEN1):c.1540C>A (p.Pro514Thr)
|
rs150202288
|
|
NM_001370259.2(MEN1):c.1546dup (p.Arg516fs)
|
rs767319284
|
|
NM_001370259.2(MEN1):c.1643G>T (p.Gly548Val)
|
rs2136081852
|
|
NM_001370259.2(MEN1):c.1736T>C (p.Leu579Pro)
|
|
|
NM_001370259.2(MEN1):c.249_252del (p.Ile85fs)
|
rs587776841
|
|
NM_001370259.2(MEN1):c.332dup (p.Val112fs)
|
rs1555166435
|
|
NM_001370259.2(MEN1):c.376T>G (p.Trp126Gly)
|
|
|
NM_001370259.2(MEN1):c.526G>A (p.Ala176Thr)
|
rs376872829
|
|
NM_001370259.2(MEN1):c.609del (p.Asn203fs)
|
|
|
NM_001370259.2(MEN1):c.655-5dup
|
rs772016629
|
|
NM_001370259.2(MEN1):c.784-19TC[2]
|
rs764290037
|
|
NM_001370259.2(MEN1):c.784-9G>A
|
rs794728625
|
|
NM_001370259.2(MEN1):c.824G>T (p.Arg275Met)
|
|
|
NM_001370259.2(MEN1):c.825-35dup
|
rs768710094
|
|
NM_001372123.1(IKZF5):c.164A>T (p.Asp55Val)
|
|
|
NM_001374385.1(ATP8B1):c.1660G>A (p.Asp554Asn)
|
rs121909101
|
|
NM_001374385.1(ATP8B1):c.2874C>T (p.Asn958=)
|
|
|
NM_001374504.1(TMPRSS6):c.1397A>G (p.Asp466Gly)
|
|
|
NM_001375765.1(GIGYF1):c.332del (p.Leu111fs)
|
|
|
NM_001376013.1(EPB41):c.1342T>G (p.Phe448Val)
|
|
|
NM_001376013.1(EPB41):c.2444G>A (p.Arg815His)
|
|
|
NM_001376571.1(MADD):c.1784A>G (p.Tyr595Cys)
|
|
|
NM_001377304.1(GFI1B):c.962G>T (p.Arg321Leu)
|
|
|
NM_001378418.1(TCF20):c.1198del (p.Gln400fs)
|
|
|
NM_001382567.1(STIM1):c.1123G>A (p.Val375Met)
|
|
|
NM_001394966.1(NEK10):c.3282C>A (p.Tyr1094Ter)
|
|
|
NM_001429.4(EP300):c.2485C>T (p.Gln829Ter)
|
|
|
NM_001429.4(EP300):c.3889A>T (p.Arg1297Ter)
|
|
|
NM_001430.5(EPAS1):c.1035-16C>T
|
|
|
NM_001430.5(EPAS1):c.1648C>T (p.Arg550Trp)
|
|
|
NM_001430.5(EPAS1):c.218-8del
|
rs66811540
|
|
NM_001437.3(ESR2):c.335C>A (p.Ser112Ter)
|
|
|
NM_001455.4(FOXO3):c.277_296dup (p.Val100fs)
|
|
|
NM_001470.4(GABBR1):c.1079G>A (p.Arg360Gln)
|
|
|
NM_001733.7(C1R):c.769-18del
|
|
|
NM_001734.5(C1S):c.1595T>G (p.Leu532Arg)
|
|
|
NM_001739.2(CA5A):c.149C>A (p.Pro50Gln)
|
|
|
NM_001791.4(CDC42):c.409A>G (p.Ile137Val)
|
|
|
NM_001903.5(CTNNA1):c.*13C>T
|
|
|
NM_001903.5(CTNNA1):c.1017T>C (p.Ala339=)
|
rs1581178613
|
|
NM_001903.5(CTNNA1):c.1028C>T (p.Ala343Val)
|
|
|
NM_001903.5(CTNNA1):c.106-48_106-45del
|
|
|
NM_001903.5(CTNNA1):c.1143+42A>G
|
|
|
NM_001903.5(CTNNA1):c.1389+29A>G
|
|
|
NM_001903.5(CTNNA1):c.1389+47G>T
|
|
|
NM_001903.5(CTNNA1):c.1390-40_1390-39del
|
|
|
NM_001903.5(CTNNA1):c.1546+45T>A
|
|
|
NM_001903.5(CTNNA1):c.1734G>C (p.Leu578=)
|
|
|
NM_001903.5(CTNNA1):c.1747+28C>T
|
|
|
NM_001903.5(CTNNA1):c.1761T>C (p.Phe587=)
|
|
|
NM_001903.5(CTNNA1):c.1900-40C>T
|
|
|
NM_001903.5(CTNNA1):c.2010+49del
|
|
|
NM_001903.5(CTNNA1):c.2053G>A (p.Ala685Thr)
|
|
|
NM_001903.5(CTNNA1):c.2193-31C>G
|
|
|
NM_001903.5(CTNNA1):c.2328G>A (p.Leu776=)
|
rs774704189
|
|
NM_001903.5(CTNNA1):c.2434-25C>T
|
|
|
NM_001903.5(CTNNA1):c.301+43C>T
|
|
|
NM_001903.5(CTNNA1):c.468+35A>G
|
|
|
NM_001903.5(CTNNA1):c.588+4_588+5del
|
rs147724289
|
|
NM_001987.5(ETV6):c.1207A>G (p.Lys403Glu)
|
|
|
NM_001993.5(F3):c.506A>G (p.Asn169Ser)
|
|
|
NM_001994.3(F13B):c.1406A>G (p.Lys469Arg)
|
|
|
NM_001994.3(F13B):c.535G>A (p.Glu179Lys)
|
|
|
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter)
|
rs61816761
|
|
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs)
|
rs558269137
|
|
NM_002016.2(FLG):c.5945_5946del (p.Thr1982fs)
|
rs771027814
|
|
NM_002016.2(FLG):c.7339C>T (p.Arg2447Ter)
|
rs138726443
|
|
NM_002049.4(GATA1):c.757C>T (p.Arg253Trp)
|
|
|
NM_002049.4(GATA1):c.800C>T (p.Thr267Ile)
|
|
|
NM_002067.5(GNA11):c.-43_-4del
|
rs571847017
|
|
NM_002067.5(GNA11):c.-78_-21del
|
|
|
NM_002067.5(GNA11):c.1039A>G (p.Thr347Ala)
|
rs2145329319
|
|
NM_002067.5(GNA11):c.136+39C>T
|
|
|
NM_002067.5(GNA11):c.137-40G>T
|
rs1373894669
|
|
NM_002067.5(GNA11):c.137-41G>T
|
rs933651595
|
|
NM_002067.5(GNA11):c.137-6C>T
|
rs769129067
|
|
NM_002067.5(GNA11):c.145G>A (p.Glu49Lys)
|
|
|
NM_002067.5(GNA11):c.476+36_476+50del
|
rs145870964
|
|
NM_002067.5(GNA11):c.573G>A (p.Glu191=)
|
|
|
NM_002067.5(GNA11):c.735+1G>A
|
|
|
NM_002067.5(GNA11):c.735+49A>G
|
|
|
NM_002067.5(GNA11):c.741del (p.Met248fs)
|
|
|
NM_002067.5(GNA11):c.826A>T (p.Lys276Ter)
|
|
|
NM_002067.5(GNA11):c.889+15G>A
|
|
|
NM_002067.5(GNA11):c.889+32G>A
|
rs199975676
|
|
NM_002067.5(GNA11):c.889+8G>C
|
rs73527836
|
|
NM_002067.5(GNA11):c.898C>A (p.Arg300=)
|
rs1461947710
|
|
NM_002067.5(GNA11):c.955G>A (p.Asp319Asn)
|
|
|
NM_002221.4(ITPKB):c.1222T>G (p.Ser408Ala)
|
|
|
NM_002221.4(ITPKB):c.1655C>A (p.Pro552Gln)
|
|
|
NM_002250.3(KCNN4):c.1055G>A (p.Arg352His)
|
rs774455945
|
|
NM_002335.4(LRP5):c.640G>A (p.Ala214Thr)
|
rs121908671
|
|
NM_002354.3(EPCAM):c.*108T>G
|
rs2103771213
|
|
NM_002354.3(EPCAM):c.*145A>G
|
|
|
NM_002354.3(EPCAM):c.*234T>G
|
|
|
NM_002354.3(EPCAM):c.*246G>A
|
rs551199869
|
|
NM_002354.3(EPCAM):c.*302A>G
|
rs1467922902
|
|
NM_002354.3(EPCAM):c.*336C>A
|
|
|
NM_002354.3(EPCAM):c.*339_*342del
|
|
|
NM_002354.3(EPCAM):c.*344T>A
|
|
|
NM_002354.3(EPCAM):c.*56A>G
|
|
|
NM_002354.3(EPCAM):c.*74G>A
|
|
|
NM_002354.3(EPCAM):c.903+49T>A
|
|
|
NM_002354.3(EPCAM):c.903+9A>T
|
rs863224391
|
|
NM_002354.3(EPCAM):c.904-30A>T
|
|
|
NM_002354.3(EPCAM):c.906A>G (p.Ile302Met)
|
|
|
NM_002382.5(MAX):c.37-15dup
|
rs747340873
|
|
NM_002392.6(MDM2):c.857del (p.Val286fs)
|
|
|
NM_002397.5(MEF2C):c.908T>G (p.Leu303Ter)
|
|
|
NM_002439.5(MSH3):c.1028-27T>C
|
|
|
NM_002439.5(MSH3):c.1028-38A>G
|
|
|
NM_002439.5(MSH3):c.1039C>T (p.Leu347=)
|
rs1580553623
|
|
NM_002439.5(MSH3):c.1148A>G (p.Lys383Arg)
|
rs71539687
|
|
NM_002439.5(MSH3):c.1173+40A>G
|
|
|
NM_002439.5(MSH3):c.1174-15del
|
rs1749901361
|
|
NM_002439.5(MSH3):c.1174-38C>A
|
rs771276196
|
|
NM_002439.5(MSH3):c.1329C>T (p.Ala443=)
|
rs2112819215
|
|
NM_002439.5(MSH3):c.1340+12C>T
|
|
|
NM_002439.5(MSH3):c.1340+32G>A
|
|
|
NM_002439.5(MSH3):c.1340+40A>C
|
|
|
NM_002439.5(MSH3):c.1341-12T>C
|
|
|
NM_002439.5(MSH3):c.1354A>C (p.Arg452=)
|
rs760735926
|
|
NM_002439.5(MSH3):c.1425T>G (p.Phe475Leu)
|
rs1222069239
|
|
NM_002439.5(MSH3):c.1454-20_1454-17del
|
|
|
NM_002439.5(MSH3):c.1454-22G>A
|
|
|
NM_002439.5(MSH3):c.1454-37_1454-36del
|
|
|
NM_002439.5(MSH3):c.1454-5del
|
rs780632399
|
|
NM_002439.5(MSH3):c.146del (p.Pro49fs)
|
rs1580538168
|
|
NM_002439.5(MSH3):c.1568+37T>A
|
rs2112858051
|
|
NM_002439.5(MSH3):c.1569-44T>G
|
rs2112866679
|
|
NM_002439.5(MSH3):c.1569-6T>A
|
|
|
NM_002439.5(MSH3):c.1611_1614del (p.Ile537fs)
|
rs2112866803
|
|
NM_002439.5(MSH3):c.1653+35C>T
|
|
|
NM_002439.5(MSH3):c.1653+36G>A
|
rs199963081
|
|
NM_002439.5(MSH3):c.1749del (p.Leu584fs)
|
|
|
NM_002439.5(MSH3):c.1763+31C>A
|
|
|
NM_002439.5(MSH3):c.1763+40T>C
|
|
|
NM_002439.5(MSH3):c.1764-32_1764-31del
|
rs2112879762
|
|
NM_002439.5(MSH3):c.1764-40C>G
|
rs1232664738
|
|
NM_002439.5(MSH3):c.1764-44A>C
|
|
|
NM_002439.5(MSH3):c.1764-9_1764-8del
|
rs41559616
|
|
NM_002439.5(MSH3):c.1881C>G (p.Ser627Arg)
|
|
|
NM_002439.5(MSH3):c.188_189insGCAGCGGCCGCAGCGCCC (p.Pro63_Pro64insGlnArgProGlnArgPro)
|
|
|
NM_002439.5(MSH3):c.1897-17A>C
|
|
|
NM_002439.5(MSH3):c.1897-38A>G
|
|
|
NM_002439.5(MSH3):c.1902T>C (p.Ser634=)
|
rs1580033678
|
|
NM_002439.5(MSH3):c.190_191insAGCGCCCGCAGCGCCCCC (p.Pro63_Pro64insGlnArgProGlnArgPro)
|
|
|
NM_002439.5(MSH3):c.1972G>C (p.Ala658Pro)
|
rs2112884378
|
|
NM_002439.5(MSH3):c.2084+13C>T
|
|
|
NM_002439.5(MSH3):c.2084+43dup
|
rs1561471371
|
|
NM_002439.5(MSH3):c.2084+5G>A
|
rs1580034045
|
|
NM_002439.5(MSH3):c.2085-30A>C
|
|
|
NM_002439.5(MSH3):c.2089G>A (p.Gly697Arg)
|
rs2112885086
|
|
NM_002439.5(MSH3):c.2209C>T (p.Leu737=)
|
rs1580035027
|
|
NM_002439.5(MSH3):c.2254-42T>C
|
|
|
NM_002439.5(MSH3):c.2254-47T>C
|
|
|
NM_002439.5(MSH3):c.2319-1G>A
|
rs866260675
|
|
NM_002439.5(MSH3):c.2319-25A>G
|
|
|
NM_002439.5(MSH3):c.2319-42A>T
|
|
|
NM_002439.5(MSH3):c.2343C>T (p.His781=)
|
rs1186259743
|
|
NM_002439.5(MSH3):c.237+29C>T
|
|
|
NM_002439.5(MSH3):c.237+30A>T
|
|
|
NM_002439.5(MSH3):c.237+33G>C
|
|
|
NM_002439.5(MSH3):c.237+38T>G
|
|
|
NM_002439.5(MSH3):c.237+40G>A
|
|
|
NM_002439.5(MSH3):c.237+42G>T
|
rs2112798982
|
|
NM_002439.5(MSH3):c.237+45del
|
rs985762586
|
|
NM_002439.5(MSH3):c.238-37AG[3]
|
rs2112801448
|
|
NM_002439.5(MSH3):c.2435+40A>C
|
|
|
NM_002439.5(MSH3):c.2435+5G>A
|
|
|
NM_002439.5(MSH3):c.2436-31C>T
|
|
|
NM_002439.5(MSH3):c.2536T>G (p.Tyr846Asp)
|
rs1744533534
|
|
NM_002439.5(MSH3):c.2686G>A (p.Gly896Arg)
|
rs777054839
|
|
NM_002439.5(MSH3):c.272T>G (p.Leu91Trp)
|
|
|
NM_002439.5(MSH3):c.2731T>C (p.Leu911=)
|
rs753525389
|
|
NM_002439.5(MSH3):c.2744T>G (p.Met915Arg)
|
rs1745048752
|
|
NM_002439.5(MSH3):c.2745G>A (p.Met915Ile)
|
|
|
NM_002439.5(MSH3):c.2781G>A (p.Ala927=)
|
rs753651533
|
|
NM_002439.5(MSH3):c.2794G>A (p.Val932Met)
|
|
|
NM_002439.5(MSH3):c.2813+24A>G
|
|
|
NM_002439.5(MSH3):c.2813+38A>G
|
|
|
NM_002439.5(MSH3):c.2854T>C (p.Phe952Leu)
|
rs2112106328
|
|
NM_002439.5(MSH3):c.2992A>G (p.Ile998Val)
|
rs548030451
|
|
NM_002439.5(MSH3):c.3000+9C>T
|
rs2112106737
|
|
NM_002439.5(MSH3):c.3009C>T (p.Ser1003=)
|
rs747106832
|
|
NM_002439.5(MSH3):c.3027C>T (p.Thr1009=)
|
rs145319344
|
|
NM_002439.5(MSH3):c.3028del (p.His1010fs)
|
|
|
NM_002439.5(MSH3):c.3036G>A (p.Pro1012=)
|
rs190963296
|
|
NM_002439.5(MSH3):c.3078G>A (p.Gly1026=)
|
rs1159636129
|
|
NM_002439.5(MSH3):c.3127C>A (p.Pro1043Thr)
|
|
|
NM_002439.5(MSH3):c.3130+23G>T
|
rs750474686
|
|
NM_002439.5(MSH3):c.3130+37T>A
|
|
|
NM_002439.5(MSH3):c.3131-23G>C
|
|
|
NM_002439.5(MSH3):c.3131-41G>A
|
|
|
NM_002439.5(MSH3):c.322G>T (p.Glu108Ter)
|
|
|
NM_002439.5(MSH3):c.3302+15G>C
|
rs2112129041
|
|
NM_002439.5(MSH3):c.3302+28A>G
|
|
|
NM_002439.5(MSH3):c.3302+44_3302+46del
|
|
|
NM_002439.5(MSH3):c.3303-16T>C
|
rs767324024
|
|
NM_002439.5(MSH3):c.3331T>C (p.Trp1111Arg)
|
rs1459678591
|
|
NM_002439.5(MSH3):c.3338T>G (p.Met1113Arg)
|
rs747331232
|
|
NM_002439.5(MSH3):c.3385G>A (p.Glu1129Lys)
|
|
|
NM_002439.5(MSH3):c.358+12G>A
|
rs777793971
|
|
NM_002439.5(MSH3):c.358+12G>T
|
rs777793971
|
|
NM_002439.5(MSH3):c.358+28C>A
|
rs2112801974
|
|
NM_002439.5(MSH3):c.359-25G>A
|
|
|
NM_002439.5(MSH3):c.419T>G (p.Phe140Cys)
|
|
|
NM_002439.5(MSH3):c.427G>A (p.Asp143Asn)
|
rs138381683
|
|
NM_002439.5(MSH3):c.579+1G>A
|
rs2112809006
|
|
NM_002439.5(MSH3):c.579+43T>G
|
|
|
NM_002439.5(MSH3):c.647C>G (p.Thr216Ser)
|
|
|
NM_002439.5(MSH3):c.792+9T>C
|
|
|
NM_002439.5(MSH3):c.910-28A>C
|
|
|
NM_002439.5(MSH3):c.965G>A (p.Arg322Lys)
|
rs1749753063
|
|
NM_002473.6(MYH9):c.2545G>C (p.Ala849Pro)
|
|
|
NM_002473.6(MYH9):c.4025G>T (p.Arg1342Leu)
|
|
|
NM_002473.6(MYH9):c.5171A>G (p.Lys1724Arg)
|
|
|
NM_002473.6(MYH9):c.5521G>A (p.Glu1841Lys)
|
rs80338834
|
|
NM_002485.5(NBN):c.2071del
|
rs2130756322
|
|
NM_002528.7(NTHL1):c.*19C>T
|
|
|
NM_002528.7(NTHL1):c.*28G>T
|
|
|
NM_002528.7(NTHL1):c.*31G>A
|
|
|
NM_002528.7(NTHL1):c.-33G>A
|
|
|
NM_002528.7(NTHL1):c.-42G>A
|
|
|
NM_002528.7(NTHL1):c.115+10C>T
|
rs756945300
|
|
NM_002528.7(NTHL1):c.115+6G>T
|
|
|
NM_002528.7(NTHL1):c.116-31C>A
|
|
|
NM_002528.7(NTHL1):c.211dup (p.Ala71fs)
|
rs745671590
|
|
NM_002528.7(NTHL1):c.216G>C (p.Glu72Asp)
|
|
|
NM_002528.7(NTHL1):c.269A>G (p.Asn90Ser)
|
rs1442043769
|
|
NM_002528.7(NTHL1):c.302C>T (p.Pro101Leu)
|
|
|
NM_002528.7(NTHL1):c.309C>T (p.Asp103=)
|
rs2150945346
|
|
NM_002528.7(NTHL1):c.349C>A (p.Pro117Thr)
|
rs149277519
|
|
NM_002528.7(NTHL1):c.349C>G (p.Pro117Ala)
|
rs149277519
|
|
NM_002528.7(NTHL1):c.350C>T (p.Pro117Leu)
|
rs777263711
|
|
NM_002528.7(NTHL1):c.354+30dup
|
rs3211971
|
|
NM_002528.7(NTHL1):c.354+33C>T
|
|
|
NM_002528.7(NTHL1):c.355-32C>T
|
|
|
NM_002528.7(NTHL1):c.524G>A (p.Arg175Lys)
|
rs2084315998
|
|
NM_002528.7(NTHL1):c.525+22G>C
|
|
|
NM_002528.7(NTHL1):c.526-12_526-11del
|
rs2150941472
|
|
NM_002528.7(NTHL1):c.526-36del
|
|
|
NM_002528.7(NTHL1):c.526-3C>T
|
rs2084301468
|
|
NM_002528.7(NTHL1):c.526-45G>A
|
|
|
NM_002528.7(NTHL1):c.604G>A (p.Glu202Lys)
|
rs919177150
|
|
NM_002528.7(NTHL1):c.65G>A (p.Arg22Gln)
|
|
|
NM_002528.7(NTHL1):c.685+33C>T
|
|
|
NM_002528.7(NTHL1):c.686-17G>A
|
rs779450940
|
|
NM_002528.7(NTHL1):c.686-38G>C
|
|
|
NM_002528.7(NTHL1):c.688G>C (p.Val230Leu)
|
|
|
NM_002528.7(NTHL1):c.754GAG[1] (p.Glu253del)
|
rs2150938288
|
|
NM_002528.7(NTHL1):c.791+35G>A
|
|
|
NM_002528.7(NTHL1):c.792-39C>T
|
|
|
NM_002528.7(NTHL1):c.792-3C>T
|
rs3087467
|
|
NM_002528.7(NTHL1):c.7G>A (p.Ala3Thr)
|
rs753350404
|
|
NM_002528.7(NTHL1):c.863G>C (p.Arg288Pro)
|
rs148253565
|
|
NM_002528.7(NTHL1):c.890T>C (p.Leu297Pro)
|
rs2150937774
|
|
NM_002641.4(PIGA):c.242G>A (p.Arg81His)
|
rs1922162801
|
|
NM_002691.4(POLD1):c.*20GGCGGG[3]
|
|
|
NM_002691.4(POLD1):c.-1-29C>A
|
rs375760352
|
|
NM_002691.4(POLD1):c.1066A>G (p.Thr356Ala)
|
|
|
NM_002691.4(POLD1):c.1114G>A (p.Glu372Lys)
|
rs960226186
|
|
NM_002691.4(POLD1):c.1138-41A>T
|
|
|
NM_002691.4(POLD1):c.1168C>T (p.Pro390Ser)
|
rs2038747136
|
|
NM_002691.4(POLD1):c.1183G>A (p.Gly395Ser)
|
rs1555790574
|
|
NM_002691.4(POLD1):c.1215C>T (p.Tyr405=)
|
rs1555790585
|
|
NM_002691.4(POLD1):c.1242+35T>C
|
|
|
NM_002691.4(POLD1):c.1243-33C>T
|
|
|
NM_002691.4(POLD1):c.1243-43C>T
|
|
|
NM_002691.4(POLD1):c.1260C>T (p.Phe420=)
|
rs1601215186
|
|
NM_002691.4(POLD1):c.1323G>A (p.Thr441=)
|
rs768901366
|
|
NM_002691.4(POLD1):c.1328G>A (p.Arg443Gln)
|
rs1601215673
|
|
NM_002691.4(POLD1):c.1384-13C>G
|
rs536467012
|
|
NM_002691.4(POLD1):c.1384-17CCCA[4]
|
rs1307903850
|
|
NM_002691.4(POLD1):c.1384-29G>A
|
|
|
NM_002691.4(POLD1):c.1452G>A (p.Glu484=)
|
rs1191052495
|
|
NM_002691.4(POLD1):c.1494+23C>G
|
rs953362966
|
|
NM_002691.4(POLD1):c.1494+32A>C
|
|
|
NM_002691.4(POLD1):c.1494+5C>T
|
rs565428379
|
|
NM_002691.4(POLD1):c.1495-38A>T
|
|
|
NM_002691.4(POLD1):c.1495-40C>A
|
|
|
NM_002691.4(POLD1):c.1495-45C>T
|
|
|
NM_002691.4(POLD1):c.1514G>C (p.Arg505Pro)
|
|
|
NM_002691.4(POLD1):c.1672dup (p.Gln558fs)
|
rs2122340338
|
|
NM_002691.4(POLD1):c.1686+23C>T
|
|
|
NM_002691.4(POLD1):c.1686+24G>A
|
|
|
NM_002691.4(POLD1):c.1686+28C>T
|
|
|
NM_002691.4(POLD1):c.1687-10C>T
|
rs1555791489
|
|
NM_002691.4(POLD1):c.1687-32C>G
|
|
|
NM_002691.4(POLD1):c.1687-38C>T
|
rs373705242
|
|
NM_002691.4(POLD1):c.1734C>T (p.Gly578=)
|
rs1293284420
|
|
NM_002691.4(POLD1):c.1776-19_1776-18delinsTT
|
|
|
NM_002691.4(POLD1):c.1776-23G>A
|
|
|
NM_002691.4(POLD1):c.1776-24C>T
|
|
|
NM_002691.4(POLD1):c.1776-26C>T
|
|
|
NM_002691.4(POLD1):c.1783G>C (p.Asp595His)
|
|
|
NM_002691.4(POLD1):c.1791del (p.Ile598fs)
|
rs2122366299
|
|
NM_002691.4(POLD1):c.17G>C (p.Arg6Pro)
|
rs778275831
|
|
NM_002691.4(POLD1):c.1923C>G (p.Pro641=)
|
|
|
NM_002691.4(POLD1):c.2006+15T>C
|
rs569748371
|
|
NM_002691.4(POLD1):c.2006+37T>C
|
|
|
NM_002691.4(POLD1):c.2007-34C>T
|
|
|
NM_002691.4(POLD1):c.2010C>G (p.Ala670=)
|
rs1390351117
|
|
NM_002691.4(POLD1):c.201C>G (p.Asp67Glu)
|
|
|
NM_002691.4(POLD1):c.202+38A>C
|
rs755710825
|
|
NM_002691.4(POLD1):c.2071C>T (p.Leu691=)
|
rs2039021984
|
|
NM_002691.4(POLD1):c.208G>A (p.Val70Ile)
|
rs147911699
|
|
NM_002691.4(POLD1):c.208G>T (p.Val70Phe)
|
rs147911699
|
|
NM_002691.4(POLD1):c.2115C>T (p.Gly705=)
|
rs777115075
|
|
NM_002691.4(POLD1):c.2154+16C>A
|
rs545333156
|
|
NM_002691.4(POLD1):c.2154+37G>A
|
rs2122391458
|
|
NM_002691.4(POLD1):c.2154+43C>T
|
|
|
NM_002691.4(POLD1):c.2155-21G>A
|
|
|
NM_002691.4(POLD1):c.2157C>T (p.Ser719=)
|
rs760678755
|
|
NM_002691.4(POLD1):c.2250+11G>A
|
|
|
NM_002691.4(POLD1):c.2250+15_2250+24del
|
|
|
NM_002691.4(POLD1):c.2250+18G>A
|
rs761696044
|
|
NM_002691.4(POLD1):c.2388+26C>T
|
|
|
NM_002691.4(POLD1):c.2388+47G>A
|
|
|
NM_002691.4(POLD1):c.2460_2467dup (p.Arg823fs)
|
rs751309893
|
|
NM_002691.4(POLD1):c.2492C>T (p.Ala831Val)
|
|
|
NM_002691.4(POLD1):c.2515C>A (p.Leu839Ile)
|
rs878854538
|
|
NM_002691.4(POLD1):c.2554C>T (p.Leu852Phe)
|
rs2122467940
|
|
NM_002691.4(POLD1):c.2560G>T (p.Asp854Tyr)
|
rs373650022
|
|
NM_002691.4(POLD1):c.2564+15C>A
|
|
|
NM_002691.4(POLD1):c.2564+21C>T
|
rs760040436
|
|
NM_002691.4(POLD1):c.2564+53_2564+55del
|
|
|
NM_002691.4(POLD1):c.2565-13C>G
|
rs559638270
|
|
NM_002691.4(POLD1):c.2565-25C>T
|
|
|
NM_002691.4(POLD1):c.2565-32_2565-31del
|
rs754367402
|
|
NM_002691.4(POLD1):c.2565-45C>A
|
|
|
NM_002691.4(POLD1):c.2565-45C>G
|
|
|
NM_002691.4(POLD1):c.261G>A (p.Leu87=)
|
rs1555789229
|
|
NM_002691.4(POLD1):c.2694G>A (p.Gln898=)
|
|
|
NM_002691.4(POLD1):c.2705_2717+6del
|
|
|
NM_002691.4(POLD1):c.2718-38A>G
|
|
|
NM_002691.4(POLD1):c.2718-42A>C
|
rs759314322
|
|
NM_002691.4(POLD1):c.2718-45G>C
|
rs771219522
|
|
NM_002691.4(POLD1):c.2820+34C>T
|
rs1224187689
|
|
NM_002691.4(POLD1):c.2820+40C>T
|
|
|
NM_002691.4(POLD1):c.2821-26C>T
|
|
|
NM_002691.4(POLD1):c.2821-27C>G
|
|
|
NM_002691.4(POLD1):c.2821-48C>G
|
rs3219439
|
|
NM_002691.4(POLD1):c.2837T>G (p.Leu946Arg)
|
|
|
NM_002691.4(POLD1):c.2926G>T (p.Glu976Ter)
|
|
|
NM_002691.4(POLD1):c.2931C>T (p.Gly977=)
|
rs1298783717
|
|
NM_002691.4(POLD1):c.2953+34G>T
|
|
|
NM_002691.4(POLD1):c.2953+39dup
|
rs779450210
|
|
NM_002691.4(POLD1):c.2954-28G>A
|
|
|
NM_002691.4(POLD1):c.2959G>A (p.Asp987Asn)
|
rs985679759
|
|
NM_002691.4(POLD1):c.3067+12T>C
|
|
|
NM_002691.4(POLD1):c.3067+31G>A
|
|
|
NM_002691.4(POLD1):c.3067+50C>T
|
|
|
NM_002691.4(POLD1):c.3068-16A>T
|
|
|
NM_002691.4(POLD1):c.3121-27G>A
|
|
|
NM_002691.4(POLD1):c.3121-8G>A
|
rs762920108
|
|
NM_002691.4(POLD1):c.316+27C>T
|
|
|
NM_002691.4(POLD1):c.316+48G>A
|
rs754066288
|
|
NM_002691.4(POLD1):c.316+79_316+123del
|
|
|
NM_002691.4(POLD1):c.3219-24CCCTGC[3]
|
rs3219456
|
|
NM_002691.4(POLD1):c.3219-24CCCTGC[4]
|
rs3219456
|
|
NM_002691.4(POLD1):c.3219-25_3219-20dup
|
rs375276363
|
|
NM_002691.4(POLD1):c.3219-34C>T
|
|
|
NM_002691.4(POLD1):c.3219-35G>T
|
|
|
NM_002691.4(POLD1):c.3219-3C>T
|
rs1303176364
|
|
NM_002691.4(POLD1):c.324G>T (p.Ala108=)
|
rs20582
|
|
NM_002691.4(POLD1):c.3297_3298del (p.Phe1099fs)
|
|
|
NM_002691.4(POLD1):c.343C>G (p.Pro115Ala)
|
rs754917939
|
|
NM_002691.4(POLD1):c.344C>T (p.Pro115Leu)
|
|
|
NM_002691.4(POLD1):c.387G>T (p.Gly129=)
|
|
|
NM_002691.4(POLD1):c.426C>T (p.His142=)
|
rs201187429
|
|
NM_002691.4(POLD1):c.464-22C>T
|
|
|
NM_002691.4(POLD1):c.473C>T (p.Pro158Leu)
|
|
|
NM_002691.4(POLD1):c.485del (p.Gly162fs)
|
|
|
NM_002691.4(POLD1):c.590-23G>C
|
|
|
NM_002691.4(POLD1):c.590-30T>C
|
|
|
NM_002691.4(POLD1):c.617C>A (p.Pro206His)
|
|
|
NM_002691.4(POLD1):c.623C>T (p.Pro208Leu)
|
rs774030917
|
|
NM_002691.4(POLD1):c.632G>A (p.Arg211His)
|
rs373192520
|
|
NM_002691.4(POLD1):c.663C>T (p.Ala221=)
|
rs778927849
|
|
NM_002691.4(POLD1):c.664C>T (p.Pro222Ser)
|
rs1310251395
|
|
NM_002691.4(POLD1):c.758+26_758+27delinsAT
|
|
|
NM_002691.4(POLD1):c.840+29T>G
|
|
|
NM_002691.4(POLD1):c.840+36C>G
|
rs2122253379
|
|
NM_002691.4(POLD1):c.886G>C (p.Val296Leu)
|
|
|
NM_002691.4(POLD1):c.970+26C>T
|
|
|
NM_002691.4(POLD1):c.970G>A (p.Gly324Ser)
|
|
|
NM_002691.4(POLD1):c.971-24C>A
|
|
|
NM_002691.4(POLD1):c.971-47_971-35dup
|
|
|
NM_002691.4(POLD1):c.984G>T (p.Glu328Asp)
|
|
|
NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg)
|
rs397507545
|
|
NM_002843.4(PTPRJ):c.2681G>A (p.Arg894His)
|
|
|
NM_002878.4(RAD51D):c.*49C>A
|
|
|
NM_002878.4(RAD51D):c.142A>C (p.Lys48Gln)
|
rs2091787642
|
|
NM_002878.4(RAD51D):c.144+33G>C
|
|
|
NM_002878.4(RAD51D):c.145-39G>T
|
rs7207508
|
|
NM_002878.4(RAD51D):c.145-4G>T
|
rs201361465
|
|
NM_002878.4(RAD51D):c.263+43T>C
|
|
|
NM_002878.4(RAD51D):c.263+50T>G
|
|
|
NM_002878.4(RAD51D):c.264-50C>T
|
|
|
NM_002878.4(RAD51D):c.270_271dup (p.Lys91fs)
|
rs753862052
|
|
NM_002878.4(RAD51D):c.325C>T (p.Pro109Ser)
|
rs2091620469
|
|
NM_002878.4(RAD51D):c.33C>T (p.Gly11=)
|
rs760444811
|
|
NM_002878.4(RAD51D):c.345+23G>C
|
|
|
NM_002878.4(RAD51D):c.412A>C (p.Asn138His)
|
rs141690729
|
|
NM_002878.4(RAD51D):c.412A>G (p.Asn138Asp)
|
rs141690729
|
|
NM_002878.4(RAD51D):c.422T>C (p.Leu141Pro)
|
rs780938875
|
|
NM_002878.4(RAD51D):c.481-29G>A
|
|
|
NM_002878.4(RAD51D):c.493C>G (p.Arg165Gly)
|
rs544654228
|
|
NM_002878.4(RAD51D):c.552G>A (p.Glu184=)
|
rs1462752398
|
|
NM_002878.4(RAD51D):c.564T>A (p.Thr188=)
|
rs1258276444
|
|
NM_002878.4(RAD51D):c.565_568del (p.Val189fs)
|
rs2091603173
|
|
NM_002878.4(RAD51D):c.576+35C>T
|
rs2142428463
|
|
NM_002878.4(RAD51D):c.621G>A (p.Ser207=)
|
rs749859221
|
|
NM_002878.4(RAD51D):c.629C>A (p.Ala210Glu)
|
rs376855484
|
|
NM_002878.4(RAD51D):c.667+43C>T
|
|
|
NM_002878.4(RAD51D):c.668-30C>G
|
|
|
NM_002878.4(RAD51D):c.668-36C>T
|
|
|
NM_002878.4(RAD51D):c.682A>G (p.Met228Val)
|
|
|
NM_002878.4(RAD51D):c.734T>C (p.Val245Ala)
|
rs1060502956
|
|
NM_002878.4(RAD51D):c.738+1G>A
|
rs1567726124
|
|
NM_002878.4(RAD51D):c.738+29T>G
|
|
|
NM_002878.4(RAD51D):c.739-35A>G
|
|
|
NM_002878.4(RAD51D):c.7G>A (p.Val3Met)
|
rs758124349
|
|
NM_002878.4(RAD51D):c.83-45G>T
|
|
|
NM_002878.4(RAD51D):c.835G>A (p.Asp279Asn)
|
rs765271127
|
|
NM_002878.4(RAD51D):c.844G>A (p.Glu282Lys)
|
rs1447892901
|
|
NM_002878.4(RAD51D):c.886del (p.Ala296fs)
|
rs761589376
|
|
NM_002878.4(RAD51D):c.904-14A>C
|
rs2142409569
|
|
NM_002878.4(RAD51D):c.91C>G (p.Leu31Val)
|
|
|
NM_002907.4(RECQL):c.1202A>G (p.Glu401Gly)
|
|
|
NM_002907.4(RECQL):c.1667_1667+3del
|
rs564485792
|
|
NM_003000.2(SDHB):c.424-16_424-14dup
|
rs34261028
|
|
NM_003000.3(SDHB):c.*13T>C
|
|
|
NM_003000.3(SDHB):c.-13del
|
|
|
NM_003000.3(SDHB):c.15C>A (p.Val5=)
|
rs1182998682
|
|
NM_003000.3(SDHB):c.200+44A>C
|
|
|
NM_003000.3(SDHB):c.234G>A (p.Lys78=)
|
rs776971836
|
|
NM_003000.3(SDHB):c.287-40G>T
|
|
|
NM_003000.3(SDHB):c.395A>G (p.His132Arg)
|
rs74315372
|
|
NM_003000.3(SDHB):c.3G>A (p.Met1Ile)
|
rs1131691061
|
|
NM_003000.3(SDHB):c.416T>C (p.Leu139Pro)
|
|
|
NM_003000.3(SDHB):c.423+28T>C
|
|
|
NM_003000.3(SDHB):c.423+46G>C
|
|
|
NM_003000.3(SDHB):c.423+8T>C
|
rs2101522899
|
|
NM_003000.3(SDHB):c.424-13_424-11dup
|
rs1365741915
|
|
NM_003000.3(SDHB):c.424-37TTC[10]
|
rs34261028
|
|
NM_003000.3(SDHB):c.424-37TTC[6]
|
rs34261028
|
|
NM_003000.3(SDHB):c.424-37TTC[7]
|
rs34261028
|
|
NM_003000.3(SDHB):c.540+31G>A
|
rs2101521469
|
|
NM_003000.3(SDHB):c.540+41T>C
|
|
|
NM_003000.3(SDHB):c.541-32C>G
|
|
|
NM_003000.3(SDHB):c.594C>G (p.Ser198Arg)
|
|
|
NM_003000.3(SDHB):c.5C>T (p.Ala2Val)
|
rs199948437
|
|
NM_003000.3(SDHB):c.642+19G>A
|
|
|
NM_003000.3(SDHB):c.643-49G>A
|
|
|
NM_003000.3(SDHB):c.684G>A (p.Glu228=)
|
rs2101513893
|
|
NM_003000.3(SDHB):c.69G>T (p.Leu23=)
|
|
|
NM_003000.3(SDHB):c.716C>G (p.Ser239Cys)
|
rs201098090
|
|
NM_003000.3(SDHB):c.73-29del
|
rs745905902
|
|
NM_003000.3(SDHB):c.73-29dup
|
|
|
NM_003000.3(SDHB):c.73-41C>G
|
|
|
NM_003000.3(SDHB):c.765+45G>A
|
|
|
NM_003000.3(SDHB):c.766-19del
|
rs1553176985
|
|
NM_003001.5(SDHC):c.*38T>C
|
|
|
NM_003001.5(SDHC):c.-14G>C
|
|
|
NM_003001.5(SDHC):c.20+42G>A
|
|
|
NM_003001.5(SDHC):c.204C>T (p.Ser68=)
|
|
|
NM_003001.5(SDHC):c.21-14C>T
|
rs1450437203
|
|
NM_003001.5(SDHC):c.241+6dup
|
|
|
NM_003001.5(SDHC):c.242-20C>T
|
|
|
NM_003001.5(SDHC):c.242-37T>C
|
rs765053466
|
|
NM_003001.5(SDHC):c.242-3C>T
|
|
|
NM_003001.5(SDHC):c.242-40T>A
|
|
|
NM_003001.5(SDHC):c.242-9del
|
|
|
NM_003001.5(SDHC):c.405+36A>G
|
|
|
NM_003001.5(SDHC):c.406-13G>A
|
rs758615918
|
|
NM_003001.5(SDHC):c.406-14T>G
|
|
|
NM_003001.5(SDHC):c.406-14del
|
rs34744926
|
|
NM_003001.5(SDHC):c.406-14dup
|
rs34744926
|
|
NM_003001.5(SDHC):c.406-15_406-14del
|
|
|
NM_003001.5(SDHC):c.406-43T>G
|
|
|
NM_003001.5(SDHC):c.406-49A>G
|
|
|
NM_003001.5(SDHC):c.450G>T (p.Gln150His)
|
|
|
NM_003001.5(SDHC):c.66C>G (p.Leu22=)
|
rs778965036
|
|
NM_003001.5(SDHC):c.77+26_77+27insA
|
|
|
NM_003001.5(SDHC):c.77+31dup
|
rs371604278
|
|
NM_003001.5(SDHC):c.77+32A>G
|
|
|
NM_003001.5(SDHC):c.77+32_77+33del
|
rs751651691
|
|
NM_003001.5(SDHC):c.77+32del
|
|
|
NM_003001.5(SDHC):c.77+43del
|
rs368411074
|
|
NM_003001.5(SDHC):c.77+43dup
|
rs368411074
|
|
NM_003001.5(SDHC):c.7G>T (p.Ala3Ser)
|
rs748243732
|
|
NM_003001.5(SDHC):c.82G>A (p.Val28Ile)
|
rs754818119
|
|
NM_003002.4(SDHD):c.169+34_169+37dup
|
|
|
NM_003002.4(SDHD):c.314+3A>C
|
rs1555187084
|
|
NM_003002.4(SDHD):c.315-1686C>A
|
|
|
NM_003002.4(SDHD):c.337_340del (p.Asp113fs)
|
rs587776648
|
|
NM_003002.4(SDHD):c.341A>G (p.Tyr114Cys)
|
rs104894304
|
|
NM_003126.4(SPTA1):c.1112+1G>T
|
|
|
NM_003126.4(SPTA1):c.2584G>T (p.Glu862Ter)
|
|
|
NM_003126.4(SPTA1):c.2659C>T (p.Arg887Ter)
|
|
|
NM_003126.4(SPTA1):c.2980C>T (p.Arg994Ter)
|
|
|
NM_003126.4(SPTA1):c.3667C>T (p.Arg1223Ter)
|
|
|
NM_003126.4(SPTA1):c.3792_3793dup (p.Met1265fs)
|
|
|
NM_003126.4(SPTA1):c.419G>T (p.Trp140Leu)
|
|
|
NM_003126.4(SPTA1):c.4339-99C>T
|
rs200830867
|
|
NM_003126.4(SPTA1):c.4398T>A (p.Tyr1466Ter)
|
|
|
NM_003126.4(SPTA1):c.4441A>G (p.Arg1481Gly)
|
|
|
NM_003126.4(SPTA1):c.6658G>C (p.Gly2220Arg)
|
|
|
NM_003126.4(SPTA1):c.6788+1G>A
|
|
|
NM_003128.3(SPTBN1):c.3564+1G>C
|
|
|
NM_003128.3(SPTBN1):c.6277G>T (p.Glu2093Ter)
|
|
|
NM_003200.5(TCF3):c.1652G>A (p.Arg551Gln)
|
|
|
NM_003227.4(TFR2):c.1402C>T (p.Arg468Cys)
|
|
|
NM_003227.4(TFR2):c.289T>C (p.Phe97Leu)
|
|
|
NM_003247.5(THBS2):c.2783G>A (p.Arg928Gln)
|
|
|
NM_003482.4(KMT2D):c.10847T>C (p.Val3616Ala)
|
|
|
NM_003482.4(KMT2D):c.3907-2_3907-1del
|
rs2120632541
|
|
NM_003491.4(NAA10):c.215T>C (p.Ile72Thr)
|
rs1057519448
|
|
NM_003640.5(ELP1):c.512A>G (p.His171Arg)
|
|
|
NM_003738.5(PTCH2):c.1031G>T (p.Ser344Ile)
|
|
|
NM_003738.5(PTCH2):c.3358G>A (p.Val1120Met)
|
rs2148871335
|
|
NM_003742.4(ABCB11):c.3233T>C (p.Ile1078Thr)
|
|
|
NM_003742.4(ABCB11):c.3408G>C (p.Lys1136Asn)
|
|
|
NM_003742.4(ABCB11):c.3767C>T (p.Thr1256Met)
|
|
|
NM_003764.4(STX11):c.586G>C (p.Asp196His)
|
|
|
NM_003977.4(AIP):c.280-383dup
|
|
|
NM_003998.4(NFKB1):c.1043T>C (p.Phe348Ser)
|
|
|
NM_004004.6(GJB2):c.35del (p.Gly12fs)
|
rs80338939
|
|
NM_004054.4(C3AR1):c.355_356dup (p.Asp119fs)
|
rs869312973
|
|
NM_004064.5(CDKN1B):c.-31AG[1]
|
rs774454456
|
|
NM_004064.5(CDKN1B):c.219G>T (p.Lys73Asn)
|
rs573353679
|
|
NM_004064.5(CDKN1B):c.397C>A (p.Pro133Thr)
|
rs137985549
|
|
NM_004064.5(CDKN1B):c.475+30_475+31del
|
rs770608437
|
|
NM_004069.6(AP2S1):c.153+30C>T
|
|
|
NM_004069.6(AP2S1):c.267+31G>A
|
|
|
NM_004069.6(AP2S1):c.267+37T>G
|
rs751600039
|
|
NM_004069.6(AP2S1):c.268-26T>G
|
rs2122754014
|
|
NM_004069.6(AP2S1):c.3+41del
|
rs377188979
|
|
NM_004069.6(AP2S1):c.3+41dup
|
|
|
NM_004069.6(AP2S1):c.327+48G>A
|
rs200237364
|
|
NM_004069.6(AP2S1):c.346G>A (p.Glu116Lys)
|
|
|
NM_004069.6(AP2S1):c.4-49C>T
|
|
|
NM_004069.6(AP2S1):c.44G>T (p.Arg15Leu)
|
rs397514499
|
|
NM_004168.4(SDHA):c.-7A>C
|
rs751633537
|
|
NM_004168.4(SDHA):c.1319del (p.Glu440fs)
|
|
|
NM_004168.4(SDHA):c.1908+16G>C
|
|
|
NM_004168.4(SDHA):c.1909-12_1909-11del
|
rs372662724
|
|
NM_004168.4(SDHA):c.1945_1946del (p.Leu649fs)
|
rs112307877
|
|
NM_004168.4(SDHA):c.1A>T (p.Met1Leu)
|
rs1061517
|
|
NM_004168.4(SDHA):c.456G>C (p.Glu152Asp)
|
rs1579384590
|
|
NM_004168.4(SDHA):c.770+18A>G
|
|
|
NM_004260.4(RECQL4):c.2374_2375insT (p.Pro792fs)
|
rs2130677764
|
|
NM_004329.3(BMPR1A):c.*17G>A
|
rs574861235
|
|
NM_004329.3(BMPR1A):c.*43T>C
|
|
|
NM_004329.3(BMPR1A):c.-11A>C
|
|
|
NM_004329.3(BMPR1A):c.-16A>G
|
|
|
NM_004329.3(BMPR1A):c.1047T>C (p.Ile349=)
|
rs2133592176
|
|
NM_004329.3(BMPR1A):c.1102A>G (p.Ile368Val)
|
rs1589291789
|
|
NM_004329.3(BMPR1A):c.1166+23G>C
|
|
|
NM_004329.3(BMPR1A):c.1167-12C>A
|
|
|
NM_004329.3(BMPR1A):c.116C>G (p.Ser39Cys)
|
|
|
NM_004329.3(BMPR1A):c.1214A>G (p.Lys405Arg)
|
rs1064795593
|
|
NM_004329.3(BMPR1A):c.1293C>T (p.Tyr431=)
|
rs1554891344
|
|
NM_004329.3(BMPR1A):c.1343-32T>C
|
|
|
NM_004329.3(BMPR1A):c.1435T>C (p.Leu479=)
|
rs1564725667
|
|
NM_004329.3(BMPR1A):c.1473+34C>T
|
|
|
NM_004329.3(BMPR1A):c.1474-16T>A
|
rs2133623558
|
|
NM_004329.3(BMPR1A):c.1474-25C>T
|
|
|
NM_004329.3(BMPR1A):c.1528T>C (p.Ser510Pro)
|
rs2133624743
|
|
NM_004329.3(BMPR1A):c.231-33TGTTT[5]
|
rs772231659
|
|
NM_004329.3(BMPR1A):c.231-50C>A
|
|
|
NM_004329.3(BMPR1A):c.233C>T (p.Thr78Ile)
|
rs1064793490
|
|
NM_004329.3(BMPR1A):c.333+24G>C
|
|
|
NM_004329.3(BMPR1A):c.334-16A>T
|
rs143279531
|
|
NM_004329.3(BMPR1A):c.384T>C (p.Asn128=)
|
rs2133454210
|
|
NM_004329.3(BMPR1A):c.430+40A>G
|
|
|
NM_004329.3(BMPR1A):c.431-30A>G
|
|
|
NM_004329.3(BMPR1A):c.511T>C (p.Ser171Pro)
|
rs377733546
|
|
NM_004329.3(BMPR1A):c.530+24C>A
|
|
|
NM_004329.3(BMPR1A):c.530+32T>A
|
rs1288894071
|
|
NM_004329.3(BMPR1A):c.549C>T (p.Ile183=)
|
rs748339701
|
|
NM_004329.3(BMPR1A):c.588T>A (p.Asp196Glu)
|
rs1564721952
|
|
NM_004329.3(BMPR1A):c.67+19T>C
|
rs2133322249
|
|
NM_004329.3(BMPR1A):c.67+36A>G
|
|
|
NM_004329.3(BMPR1A):c.67+42A>G
|
|
|
NM_004329.3(BMPR1A):c.675+17T>C
|
rs757907606
|
|
NM_004329.3(BMPR1A):c.675+29T>A
|
|
|
NM_004329.3(BMPR1A):c.676-37C>G
|
|
|
NM_004329.3(BMPR1A):c.68-49A>G
|
|
|
NM_004329.3(BMPR1A):c.68-50_68-48del
|
|
|
NM_004329.3(BMPR1A):c.712C>T (p.Arg238Trp)
|
rs747728399
|
|
NM_004329.3(BMPR1A):c.796A>G (p.Thr266Ala)
|
rs1273972467
|
|
NM_004329.3(BMPR1A):c.825A>C (p.Thr275=)
|
rs1345972234
|
|
NM_004329.3(BMPR1A):c.868+23A>G
|
|
|
NM_004329.3(BMPR1A):c.868+43T>A
|
rs2133578295
|
|
NM_004329.3(BMPR1A):c.869-43A>G
|
|
|
NM_004329.3(BMPR1A):c.869-6G>A
|
rs1843620547
|
|
NM_004329.3(BMPR1A):c.927T>C (p.Thr309=)
|
rs779691540
|
|
NM_004329.3(BMPR1A):c.953A>G (p.Tyr318Cys)
|
rs587778111
|
|
NM_004360.5(CDH1):c.*14G>C
|
rs1031814673
|
|
NM_004360.5(CDH1):c.*29C>A
|
|
|
NM_004360.5(CDH1):c.-50C>G
|
rs876660969
|
|
NM_004360.5(CDH1):c.1009_1010del (p.Ser337Phefs)
|
rs786201045
|
|
NM_004360.5(CDH1):c.1051C>G (p.Gln351Glu)
|
rs1555515726
|
|
NM_004360.5(CDH1):c.1108G>A (p.Asp370Asn)
|
rs1960859184
|
|
NM_004360.5(CDH1):c.1137+20G>C
|
rs34210985
|
|
NM_004360.5(CDH1):c.1137+37G>C
|
|
|
NM_004360.5(CDH1):c.1138-24A>G
|
|
|
NM_004360.5(CDH1):c.1143G>T (p.Lys381Asn)
|
|
|
NM_004360.5(CDH1):c.1161C>A (p.Asn387Lys)
|
rs111266450
|
|
NM_004360.5(CDH1):c.1249A>C (p.Asn417His)
|
rs1597896022
|
|
NM_004360.5(CDH1):c.1293C>A (p.Asn431Lys)
|
|
|
NM_004360.5(CDH1):c.1308G>A (p.Leu436=)
|
rs557551011
|
|
NM_004360.5(CDH1):c.1320+41C>T
|
|
|
NM_004360.5(CDH1):c.1320+9G>T
|
rs1276697924
|
|
NM_004360.5(CDH1):c.1321-11del
|
rs761117936
|
|
NM_004360.5(CDH1):c.1321-30_1321-25del
|
|
|
NM_004360.5(CDH1):c.1321-35G>A
|
|
|
NM_004360.5(CDH1):c.1321-36C>T
|
|
|
NM_004360.5(CDH1):c.1321-40G>A
|
|
|
NM_004360.5(CDH1):c.1321-41T>C
|
|
|
NM_004360.5(CDH1):c.1336G>A (p.Ala446Thr)
|
rs876661078
|
|
NM_004360.5(CDH1):c.1363G>A (p.Ala455Thr)
|
rs876659762
|
|
NM_004360.5(CDH1):c.1421C>T (p.Thr474Ile)
|
rs1555516124
|
|
NM_004360.5(CDH1):c.152_163+11del
|
|
|
NM_004360.5(CDH1):c.1565+26C>G
|
|
|
NM_004360.5(CDH1):c.1565+2_1565+3insTT
|
rs1555516200
|
|
NM_004360.5(CDH1):c.1566-42T>C
|
|
|
NM_004360.5(CDH1):c.1572G>A (p.Arg524=)
|
|
|
NM_004360.5(CDH1):c.1601_1619del (p.Glu534fs)
|
|
|
NM_004360.5(CDH1):c.163+16C>T
|
rs1395024294
|
|
NM_004360.5(CDH1):c.163+4_163+6dup
|
rs1205684749
|
|
NM_004360.5(CDH1):c.1711+48T>A
|
|
|
NM_004360.5(CDH1):c.1712-14G>T
|
|
|
NM_004360.5(CDH1):c.1712-15T>G
|
rs1961155157
|
|
NM_004360.5(CDH1):c.1712-27C>A
|
rs2152138096
|
|
NM_004360.5(CDH1):c.1774G>T (p.Ala592Ser)
|
rs35187787
|
|
NM_004360.5(CDH1):c.1779C>T (p.Pro593=)
|
rs1596963500
|
|
NM_004360.5(CDH1):c.1876T>G (p.Phe626Val)
|
rs876660603
|
|
NM_004360.5(CDH1):c.1936+25C>T
|
|
|
NM_004360.5(CDH1):c.1937-29T>C
|
|
|
NM_004360.5(CDH1):c.1937-9T>A
|
rs765700023
|
|
NM_004360.5(CDH1):c.2005C>T (p.Leu669Phe)
|
rs1490366214
|
|
NM_004360.5(CDH1):c.2080G>A (p.Val694Ile)
|
rs587780118
|
|
NM_004360.5(CDH1):c.2140C>A (p.Leu714Ile)
|
|
|
NM_004360.5(CDH1):c.2164+17dup
|
rs34939176
|
|
NM_004360.5(CDH1):c.2164+49G>A
|
|
|
NM_004360.5(CDH1):c.2164+50A>C
|
|
|
NM_004360.5(CDH1):c.2295+24C>A
|
|
|
NM_004360.5(CDH1):c.2295+45C>T
|
|
|
NM_004360.5(CDH1):c.2295+46G>A
|
|
|
NM_004360.5(CDH1):c.2296-26T>C
|
|
|
NM_004360.5(CDH1):c.2296-46_2296-43del
|
|
|
NM_004360.5(CDH1):c.2382C>T (p.Val794=)
|
rs786203579
|
|
NM_004360.5(CDH1):c.2415T>C (p.Asp805=)
|
|
|
NM_004360.5(CDH1):c.2440-12CTT[2]
|
rs587782757
|
|
NM_004360.5(CDH1):c.2440-13C>A
|
rs1567517555
|
|
NM_004360.5(CDH1):c.2440-14C>T
|
rs1301388290
|
|
NM_004360.5(CDH1):c.2440-18T>C
|
rs773215346
|
|
NM_004360.5(CDH1):c.2493C>T (p.Leu831=)
|
rs779267700
|
|
NM_004360.5(CDH1):c.2555A>G (p.Glu852Gly)
|
|
|
NM_004360.5(CDH1):c.255C>A (p.Val85=)
|
rs755461028
|
|
NM_004360.5(CDH1):c.2597G>T (p.Gly866Val)
|
rs1410318220
|
|
NM_004360.5(CDH1):c.311A>T (p.Asp104Val)
|
rs760351575
|
|
NM_004360.5(CDH1):c.32TGC[6] (p.Leu15dup)
|
rs587782476
|
|
NM_004360.5(CDH1):c.387+30T>C
|
|
|
NM_004360.5(CDH1):c.387+35T>C
|
|
|
NM_004360.5(CDH1):c.388-35del
|
|
|
NM_004360.5(CDH1):c.388-8C>G
|
rs774601444
|
|
NM_004360.5(CDH1):c.407A>G (p.Gln136Arg)
|
rs1184630483
|
|
NM_004360.5(CDH1):c.408A>G (p.Gln136=)
|
rs1060501229
|
|
NM_004360.5(CDH1):c.455A>G (p.Gln152Arg)
|
rs1233421331
|
|
NM_004360.5(CDH1):c.48+62_48+63insCGTGCCCCAGCCC
|
rs45625236
|
|
NM_004360.5(CDH1):c.49-20C>T
|
rs545811852
|
|
NM_004360.5(CDH1):c.49G>T (p.Val17Phe)
|
|
|
NM_004360.5(CDH1):c.531+16C>A
|
rs376565246
|
|
NM_004360.5(CDH1):c.531+33G>A
|
|
|
NM_004360.5(CDH1):c.532-26T>G
|
|
|
NM_004360.5(CDH1):c.532-2A>T
|
rs2152130040
|
|
NM_004360.5(CDH1):c.532-47G>T
|
|
|
NM_004360.5(CDH1):c.56C>G (p.Ser19Cys)
|
rs1221633501
|
|
NM_004360.5(CDH1):c.673A>G (p.Ile225Val)
|
rs1555515290
|
|
NM_004360.5(CDH1):c.687+21del
|
rs778134914
|
|
NM_004360.5(CDH1):c.688-38T>G
|
|
|
NM_004360.5(CDH1):c.820G>A (p.Gly274Ser)
|
rs781513008
|
|
NM_004360.5(CDH1):c.832+20T>A
|
|
|
NM_004360.5(CDH1):c.833-49G>C
|
|
|
NM_004360.5(CDH1):c.937G>C (p.Asp313His)
|
|
|
NM_004360.5(CDH1):c.956T>C (p.Ile319Thr)
|
rs2152132083
|
|
NM_004360.5(CDH1):c.987C>T (p.Val329=)
|
|
|
NM_004380.3(CREBBP):c.5345C>T (p.Ala1782Val)
|
rs2051858361
|
|
NM_004655.4(AXIN2):c.-32T>C
|
|
|
NM_004655.4(AXIN2):c.-7C>T
|
rs1057521320
|
|
NM_004655.4(AXIN2):c.1079A>T (p.Lys360Met)
|
rs146249973
|
|
NM_004655.4(AXIN2):c.1103C>G (p.Ala368Gly)
|
|
|
NM_004655.4(AXIN2):c.1200+38G>A
|
rs202063197
|
|
NM_004655.4(AXIN2):c.1200+38G>T
|
|
|
NM_004655.4(AXIN2):c.1200+40C>T
|
rs781562976
|
|
NM_004655.4(AXIN2):c.1200+46C>T
|
|
|
NM_004655.4(AXIN2):c.1200+50C>A
|
|
|
NM_004655.4(AXIN2):c.1200+50C>G
|
|
|
NM_004655.4(AXIN2):c.1201-23_1201-21del
|
rs767180472
|
|
NM_004655.4(AXIN2):c.1201-43C>G
|
|
|
NM_004655.4(AXIN2):c.1207G>C (p.Glu403Gln)
|
rs1196309364
|
|
NM_004655.4(AXIN2):c.1210A>G (p.Arg404Gly)
|
|
|
NM_004655.4(AXIN2):c.1216G>C (p.Gly406Arg)
|
|
|
NM_004655.4(AXIN2):c.1228A>G (p.Thr410Ala)
|
|
|
NM_004655.4(AXIN2):c.1235A>G (p.Asn412Ser)
|
rs115931022
|
|
NM_004655.4(AXIN2):c.1241G>A (p.Arg414Gln)
|
rs758255310
|
|
NM_004655.4(AXIN2):c.1251G>A (p.Ala417=)
|
rs557397475
|
|
NM_004655.4(AXIN2):c.1300G>T (p.Asp434Tyr)
|
|
|
NM_004655.4(AXIN2):c.1380T>C (p.Tyr460=)
|
rs566313620
|
|
NM_004655.4(AXIN2):c.1404CCA[5] (p.His474del)
|
rs570443161
|
|
NM_004655.4(AXIN2):c.1404CCA[7] (p.His474dup)
|
rs570443161
|
|
NM_004655.4(AXIN2):c.1429T>A (p.Tyr477Asn)
|
rs1555577851
|
|
NM_004655.4(AXIN2):c.1504G>T (p.Gly502Cys)
|
rs978541876
|
|
NM_004655.4(AXIN2):c.1540G>A (p.Val514Ile)
|
|
|
NM_004655.4(AXIN2):c.1561C>T (p.His521Tyr)
|
rs2144459300
|
|
NM_004655.4(AXIN2):c.159C>T (p.Ser53=)
|
rs774320588
|
|
NM_004655.4(AXIN2):c.1712+18C>A
|
rs370314874
|
|
NM_004655.4(AXIN2):c.1712+36G>C
|
|
|
NM_004655.4(AXIN2):c.1713-11G>A
|
|
|
NM_004655.4(AXIN2):c.1713-39C>T
|
|
|
NM_004655.4(AXIN2):c.1786G>A (p.Glu596Lys)
|
rs2043935287
|
|
NM_004655.4(AXIN2):c.1801G>C (p.Gly601Arg)
|
rs750354919
|
|
NM_004655.4(AXIN2):c.1829G>C (p.Arg610Pro)
|
rs376248072
|
|
NM_004655.4(AXIN2):c.1848G>A (p.Ser616=)
|
rs1362072020
|
|
NM_004655.4(AXIN2):c.1883G>A (p.Arg628Gln)
|
rs2043931823
|
|
NM_004655.4(AXIN2):c.1890C>A (p.Ser630Arg)
|
|
|
NM_004655.4(AXIN2):c.1902C>T (p.Pro634=)
|
|
|
NM_004655.4(AXIN2):c.1907+10G>A
|
rs749191651
|
|
NM_004655.4(AXIN2):c.1907+24C>T
|
|
|
NM_004655.4(AXIN2):c.1907+45C>T
|
|
|
NM_004655.4(AXIN2):c.1908-19C>T
|
rs752207800
|
|
NM_004655.4(AXIN2):c.1971C>T (p.Ala657=)
|
rs754480214
|
|
NM_004655.4(AXIN2):c.1975C>G (p.Arg659Gly)
|
rs142670753
|
|
NM_004655.4(AXIN2):c.1983T>C (p.His661=)
|
rs199724028
|
|
NM_004655.4(AXIN2):c.2013_2024del (p.Thr672_Arg675del)
|
rs151279728
|
|
NM_004655.4(AXIN2):c.2017A>C (p.Thr673Pro)
|
|
|
NM_004655.4(AXIN2):c.2019C>A (p.Thr673=)
|
rs1450619354
|
|
NM_004655.4(AXIN2):c.2047C>T (p.Pro683Ser)
|
rs1598096797
|
|
NM_004655.4(AXIN2):c.2048C>T (p.Pro683Leu)
|
rs1555577092
|
|
NM_004655.4(AXIN2):c.2062C>A (p.Leu688Met)
|
rs35415678
|
|
NM_004655.4(AXIN2):c.2085T>C (p.Ala695=)
|
rs750097494
|
|
NM_004655.4(AXIN2):c.2117A>G (p.Glu706Gly)
|
rs1598096605
|
|
NM_004655.4(AXIN2):c.2121G>A (p.Val707=)
|
rs2144439332
|
|
NM_004655.4(AXIN2):c.2124G>C (p.Ser708=)
|
rs143243661
|
|
NM_004655.4(AXIN2):c.2149G>A (p.Val717Met)
|
|
|
NM_004655.4(AXIN2):c.2206C>A (p.Pro736Thr)
|
rs951676348
|
|
NM_004655.4(AXIN2):c.2237+12T>C
|
|
|
NM_004655.4(AXIN2):c.2237+15C>T
|
|
|
NM_004655.4(AXIN2):c.2237+35C>T
|
|
|
NM_004655.4(AXIN2):c.2237+36G>A
|
|
|
NM_004655.4(AXIN2):c.2238-20C>T
|
rs554818406
|
|
NM_004655.4(AXIN2):c.2238-27A>G
|
|
|
NM_004655.4(AXIN2):c.2238-43T>C
|
|
|
NM_004655.4(AXIN2):c.2324T>C (p.Ile775Thr)
|
rs1555576382
|
|
NM_004655.4(AXIN2):c.2405+25G>A
|
|
|
NM_004655.4(AXIN2):c.2406-49A>G
|
|
|
NM_004655.4(AXIN2):c.2420A>C (p.Lys807Thr)
|
rs780367025
|
|
NM_004655.4(AXIN2):c.249C>G (p.His83Gln)
|
rs763904249
|
|
NM_004655.4(AXIN2):c.435C>G (p.Val145=)
|
rs111470596
|
|
NM_004655.4(AXIN2):c.607G>C (p.Gly203Arg)
|
rs62640027
|
|
NM_004655.4(AXIN2):c.629T>C (p.Met210Thr)
|
rs529954883
|
|
NM_004655.4(AXIN2):c.661G>T (p.Val221Leu)
|
rs1402235122
|
|
NM_004655.4(AXIN2):c.696G>A (p.Glu232=)
|
rs1468926589
|
|
NM_004655.4(AXIN2):c.750G>T (p.Leu250Phe)
|
rs1060502149
|
|
NM_004655.4(AXIN2):c.830G>A (p.Ser277Asn)
|
rs763027598
|
|
NM_004655.4(AXIN2):c.957-31C>A
|
|
|
NM_004655.4(AXIN2):c.957-34A>G
|
rs2144501228
|
|
NM_004656.4(BAP1):c.*17C>G
|
|
|
NM_004656.4(BAP1):c.*37G>C
|
|
|
NM_004656.4(BAP1):c.*45C>G
|
rs56898787
|
|
NM_004656.4(BAP1):c.-15C>T
|
rs1705320930
|
|
NM_004656.4(BAP1):c.1065G>A (p.Gln355=)
|
|
|
NM_004656.4(BAP1):c.1117-40G>A
|
rs145366930
|
|
NM_004656.4(BAP1):c.1209dup (p.Asp404Ter)
|
rs2153226844
|
|
NM_004656.4(BAP1):c.1218G>A (p.Glu406=)
|
|
|
NM_004656.4(BAP1):c.1250+30T>G
|
|
|
NM_004656.4(BAP1):c.1251-11G>C
|
rs981419588
|
|
NM_004656.4(BAP1):c.1251-34G>A
|
|
|
NM_004656.4(BAP1):c.1363T>C (p.Ser455Pro)
|
rs1559586983
|
|
NM_004656.4(BAP1):c.1544A>G (p.Asn515Ser)
|
rs2153226674
|
|
NM_004656.4(BAP1):c.1708C>G (p.Leu570Val)
|
|
|
NM_004656.4(BAP1):c.1715C>T (p.Pro572Leu)
|
rs1553644798
|
|
NM_004656.4(BAP1):c.1729+39C>G
|
|
|
NM_004656.4(BAP1):c.1729G>A (p.Glu577Lys)
|
rs1705034786
|
|
NM_004656.4(BAP1):c.1730-42T>G
|
|
|
NM_004656.4(BAP1):c.1730-4C>T
|
|
|
NM_004656.4(BAP1):c.178C>T (p.Arg60Ter)
|
rs1253151209
|
|
NM_004656.4(BAP1):c.1801A>G (p.Lys601Glu)
|
rs142059527
|
|
NM_004656.4(BAP1):c.1805A>T (p.Glu602Val)
|
rs144993791
|
|
NM_004656.4(BAP1):c.1891-36C>T
|
|
|
NM_004656.4(BAP1):c.1891-39G>A
|
rs371637639
|
|
NM_004656.4(BAP1):c.1891-39G>C
|
|
|
NM_004656.4(BAP1):c.1926G>C (p.Glu642Asp)
|
rs1386810597
|
|
NM_004656.4(BAP1):c.1936_1937insTT (p.Tyr646fs)
|
|
|
NM_004656.4(BAP1):c.1976A>G (p.Lys659Arg)
|
|
|
NM_004656.4(BAP1):c.1983+25A>T
|
|
|
NM_004656.4(BAP1):c.1984-46C>T
|
|
|
NM_004656.4(BAP1):c.2056+27T>C
|
|
|
NM_004656.4(BAP1):c.2056+38G>T
|
|
|
NM_004656.4(BAP1):c.2056+39C>T
|
|
|
NM_004656.4(BAP1):c.2056+47C>T
|
|
|
NM_004656.4(BAP1):c.2057-16C>T
|
rs369116884
|
|
NM_004656.4(BAP1):c.2057-2A>C
|
|
|
NM_004656.4(BAP1):c.2070C>T (p.Asn690=)
|
rs1553644559
|
|
NM_004656.4(BAP1):c.2096G>A (p.Arg699Gln)
|
rs1466334306
|
|
NM_004656.4(BAP1):c.2189G>A (p.Ter730=)
|
rs771713346
|
|
NM_004656.4(BAP1):c.240G>A (p.Met80Ile)
|
rs755878197
|
|
NM_004656.4(BAP1):c.256-49dup
|
rs2153228191
|
|
NM_004656.4(BAP1):c.37+12A>G
|
|
|
NM_004656.4(BAP1):c.37+35A>T
|
|
|
NM_004656.4(BAP1):c.375+16T>A
|
rs745645585
|
|
NM_004656.4(BAP1):c.375+1G>A
|
|
|
NM_004656.4(BAP1):c.376-23C>T
|
|
|
NM_004656.4(BAP1):c.376-38G>T
|
|
|
NM_004656.4(BAP1):c.376-46C>T
|
|
|
NM_004656.4(BAP1):c.38-41C>G
|
|
|
NM_004656.4(BAP1):c.38-6A>T
|
rs1578230960
|
|
NM_004656.4(BAP1):c.39C>T (p.Gly13=)
|
|
|
NM_004656.4(BAP1):c.422A>G (p.His141Arg)
|
rs1705201896
|
|
NM_004656.4(BAP1):c.437+15_437+23del
|
rs755685938
|
|
NM_004656.4(BAP1):c.581-16T>C
|
rs573678535
|
|
NM_004656.4(BAP1):c.581-28G>A
|
|
|
NM_004656.4(BAP1):c.581-2A>G
|
rs1430317959
|
|
NM_004656.4(BAP1):c.581-43C>T
|
|
|
NM_004656.4(BAP1):c.587G>C (p.Trp196Ser)
|
rs1553645725
|
|
NM_004656.4(BAP1):c.659+14G>T
|
rs1461632762
|
|
NM_004656.4(BAP1):c.660-40G>C
|
|
|
NM_004656.4(BAP1):c.67+23G>A
|
|
|
NM_004656.4(BAP1):c.67+26C>A
|
|
|
NM_004656.4(BAP1):c.67+27C>T
|
rs539725123
|
|
NM_004656.4(BAP1):c.68-26C>T
|
|
|
NM_004656.4(BAP1):c.68-38G>T
|
rs375406375
|
|
NM_004656.4(BAP1):c.68-48A>T
|
|
|
NM_004656.4(BAP1):c.706G>A (p.Asp236Asn)
|
rs1559589762
|
|
NM_004656.4(BAP1):c.783+37A>G
|
|
|
NM_004656.4(BAP1):c.783+3A>G
|
|
|
NM_004656.4(BAP1):c.784-27C>T
|
|
|
NM_004656.4(BAP1):c.882G>A (p.Leu294=)
|
rs768447095
|
|
NM_004656.4(BAP1):c.931+43C>T
|
|
|
NM_004656.4(BAP1):c.931+4C>G
|
rs1559589067
|
|
NM_004667.6(HERC2):c.12988C>T (p.Gln4330Ter)
|
|
|
NM_004667.6(HERC2):c.8435C>T (p.Ser2812Leu)
|
|
|
NM_004672.5(MAP3K6):c.1352C>T (p.Ala451Val)
|
|
|
NM_004672.5(MAP3K6):c.2837C>T (p.Pro946Leu)
|
|
|
NM_004936.4(CDKN2B):c.*29C>A
|
|
|
NM_004936.4(CDKN2B):c.*43C>G
|
rs1821151609
|
|
NM_004936.4(CDKN2B):c.-4C>T
|
rs761414872
|
|
NM_004936.4(CDKN2B):c.122A>G (p.Asn41Ser)
|
|
|
NM_004936.4(CDKN2B):c.155A>C (p.Gln52Pro)
|
|
|
NM_004936.4(CDKN2B):c.155A>G (p.Gln52Arg)
|
|
|
NM_004936.4(CDKN2B):c.156+22C>T
|
|
|
NM_004936.4(CDKN2B):c.156+3_156+6del
|
|
|
NM_004936.4(CDKN2B):c.156+9G>A
|
|
|
NM_004936.4(CDKN2B):c.252G>C (p.Val84=)
|
|
|
NM_004936.4(CDKN2B):c.29G>T (p.Ser10Ile)
|
|
|
NM_004936.4(CDKN2B):c.325_351del (p.Arg109_Val117del)
|
|
|
NM_004936.4(CDKN2B):c.343C>T (p.Leu115=)
|
|
|
NM_004936.4(CDKN2B):c.401C>G (p.Thr134Arg)
|
|
|
NM_004936.4(CDKN2B):c.71G>A (p.Arg24Gln)
|
|
|
NM_004946.3(DOCK2):c.508G>A (p.Gly170Arg)
|
|
|
NM_005045.4(RELN):c.4339C>T (p.His1447Tyr)
|
|
|
NM_005141.5(FGB):c.956C>T (p.Pro319Leu)
|
|
|
NM_005148.4(UNC119):c.395A>C (p.Gln132Pro)
|
|
|
NM_005214.5(CTLA4):c.255_270dup (p.Met91fs)
|
|
|
NM_005359.6(SMAD4):c.-5_3del (p.Met1fs)
|
rs2144400060
|
|
NM_005359.6(SMAD4):c.1101C>A (p.Leu367=)
|
rs765051479
|
|
NM_005359.6(SMAD4):c.1139+36dup
|
|
|
NM_005359.6(SMAD4):c.1139+44T>C
|
rs28539779
|
|
NM_005359.6(SMAD4):c.1140-26A>C
|
|
|
NM_005359.6(SMAD4):c.1140-35T>C
|
|
|
NM_005359.6(SMAD4):c.1245_1248del (p.Asp415Glufs)
|
rs80338965
|
|
NM_005359.6(SMAD4):c.1309-2dup
|
|
|
NM_005359.6(SMAD4):c.1309-48G>A
|
rs1452486660
|
|
NM_005359.6(SMAD4):c.1311C>T (p.Val437=)
|
|
|
NM_005359.6(SMAD4):c.1320G>A (p.Leu440=)
|
rs1599204046
|
|
NM_005359.6(SMAD4):c.1448-6T>C
|
rs1085307437
|
|
NM_005359.6(SMAD4):c.1529dup (p.Pro511fs)
|
|
|
NM_005359.6(SMAD4):c.21G>T (p.Thr7=)
|
rs142292491
|
|
NM_005359.6(SMAD4):c.250-41C>T
|
|
|
NM_005359.6(SMAD4):c.250-42G>T
|
|
|
NM_005359.6(SMAD4):c.454+23C>T
|
|
|
NM_005359.6(SMAD4):c.455-37_455-36del
|
|
|
NM_005359.6(SMAD4):c.633T>C (p.Thr211=)
|
rs1060504027
|
|
NM_005359.6(SMAD4):c.667+30A>G
|
|
|
NM_005359.6(SMAD4):c.668-26A>G
|
|
|
NM_005359.6(SMAD4):c.700A>C (p.Ser234Arg)
|
rs758642067
|
|
NM_005359.6(SMAD4):c.756A>G (p.Gly252=)
|
rs1244121412
|
|
NM_005359.6(SMAD4):c.895G>A (p.Gly299Arg)
|
rs1330888967
|
|
NM_005359.6(SMAD4):c.904+36_904+37insAT
|
|
|
NM_005359.6(SMAD4):c.904+37T>G
|
|
|
NM_005359.6(SMAD4):c.904+43_904+45dup
|
rs386387676
|
|
NM_005359.6(SMAD4):c.904+44_904+45del
|
rs386387676
|
|
NM_005359.6(SMAD4):c.904+45del
|
rs386387676
|
|
NM_005359.6(SMAD4):c.904+45dup
|
rs386387676
|
|
NM_005359.6(SMAD4):c.904+49A>T
|
rs754541078
|
|
NM_005430.4(WNT1):c.1059C>G (p.Cys353Trp)
|
|
|
NM_005630.3(SLCO2A1):c.656C>T (p.Pro219Leu)
|
|
|
NM_005720.4(ARPC1B):c.977A>G (p.Lys326Arg)
|
|
|
NM_005732.4(RAD50):c.1193A>G (p.Lys398Arg)
|
rs876659144
|
|
NM_005845.5(ABCC4):c.2471G>A (p.Arg824His)
|
|
|
NM_005845.5(ABCC4):c.3970G>A (p.Ala1324Thr)
|
|
|
NM_005902.4(SMAD3):c.803G>C (p.Arg268Pro)
|
|
|
NM_005918.4(MDH2):c.127C>T (p.Leu43Phe)
|
|
|
NM_005918.4(MDH2):c.29G>C (p.Ser10Thr)
|
|
|
NM_005918.4(MDH2):c.733+21G>A
|
|
|
NM_006005.3(WFS1):c.2511G>T (p.Trp837Cys)
|
|
|
NM_006118.4(HAX1):c.212dup (p.Gly72fs)
|
|
|
NM_006231.4(POLE):c.*23T>G
|
rs2138421481
|
|
NM_006231.4(POLE):c.*27C>T
|
|
|
NM_006231.4(POLE):c.-32C>T
|
|
|
NM_006231.4(POLE):c.-38delA
|
rs1031310075
|
|
NM_006231.4(POLE):c.-6G>C
|
rs534524789
|
|
NM_006231.4(POLE):c.1013C>T (p.Pro338Leu)
|
rs1593078223
|
|
NM_006231.4(POLE):c.101G>T (p.Arg34Leu)
|
rs747005851
|
|
NM_006231.4(POLE):c.1020+31G>C
|
|
|
NM_006231.4(POLE):c.1020+50C>T
|
|
|
NM_006231.4(POLE):c.1021-24C>T
|
|
|
NM_006231.4(POLE):c.1021-49C>G
|
|
|
NM_006231.4(POLE):c.104T>A (p.Leu35Gln)
|
rs2043161231
|
|
NM_006231.4(POLE):c.1138G>A (p.Gly380Ser)
|
rs199746481
|
|
NM_006231.4(POLE):c.1145G>A (p.Ser382Asn)
|
rs761600715
|
|
NM_006231.4(POLE):c.1226+44G>A
|
|
|
NM_006231.4(POLE):c.1226+46G>A
|
|
|
NM_006231.4(POLE):c.1226+50T>C
|
|
|
NM_006231.4(POLE):c.1227-50C>T
|
|
|
NM_006231.4(POLE):c.1255G>A (p.Val419Met)
|
|
|
NM_006231.4(POLE):c.1259G>A (p.Gly420Asp)
|
rs2136000426
|
|
NM_006231.4(POLE):c.1270C>G (p.Leu424Val)
|
rs483352909
|
|
NM_006231.4(POLE):c.1359+22T>C
|
|
|
NM_006231.4(POLE):c.1359+23G>T
|
|
|
NM_006231.4(POLE):c.1359+35G>A
|
|
|
NM_006231.4(POLE):c.1359+42C>T
|
|
|
NM_006231.4(POLE):c.1359+47_1359+117del
|
rs1565972903
|
|
NM_006231.4(POLE):c.1359+50G>C
|
|
|
NM_006231.4(POLE):c.1504G>A (p.Glu502Lys)
|
|
|
NM_006231.4(POLE):c.1570T>G (p.Phe524Val)
|
rs1593071029
|
|
NM_006231.4(POLE):c.1571T>A (p.Phe524Tyr)
|
rs1234183382
|
|
NM_006231.4(POLE):c.158T>C (p.Leu53Pro)
|
rs1336989336
|
|
NM_006231.4(POLE):c.1686+38T>G
|
|
|
NM_006231.4(POLE):c.1687-10G>A
|
rs1593069617
|
|
NM_006231.4(POLE):c.1687-19C>A
|
|
|
NM_006231.4(POLE):c.1687-22C>T
|
rs200687411
|
|
NM_006231.4(POLE):c.1687-27G>C
|
|
|
NM_006231.4(POLE):c.1695C>A (p.Ala565=)
|
rs139748472
|
|
NM_006231.4(POLE):c.1695C>T (p.Ala565=)
|
rs139748472
|
|
NM_006231.4(POLE):c.1739A>G (p.His580Arg)
|
|
|
NM_006231.4(POLE):c.1784A>G (p.Asn595Ser)
|
rs969500436
|
|
NM_006231.4(POLE):c.1794+35_1794+36del
|
rs368632925
|
|
NM_006231.4(POLE):c.1794+41C>T
|
|
|
NM_006231.4(POLE):c.1795-16T>G
|
|
|
NM_006231.4(POLE):c.1795-29G>T
|
|
|
NM_006231.4(POLE):c.1879G>C (p.Val627Leu)
|
rs747929590
|
|
NM_006231.4(POLE):c.1915C>T (p.Arg639Cys)
|
rs1565966539
|
|
NM_006231.4(POLE):c.1916G>A (p.Arg639His)
|
rs754616313
|
|
NM_006231.4(POLE):c.1924-32C>T
|
|
|
NM_006231.4(POLE):c.1A>T (p.Met1Leu)
|
rs878854847
|
|
NM_006231.4(POLE):c.2026+30G>A
|
|
|
NM_006231.4(POLE):c.2026+39C>T
|
|
|
NM_006231.4(POLE):c.2026+42dup
|
|
|
NM_006231.4(POLE):c.2027-40G>A
|
|
|
NM_006231.4(POLE):c.2083T>A (p.Phe695Ile)
|
rs5744799
|
|
NM_006231.4(POLE):c.2083T>C (p.Phe695Leu)
|
rs5744799
|
|
NM_006231.4(POLE):c.2089C>G (p.Pro697Ala)
|
rs5744800
|
|
NM_006231.4(POLE):c.2089C>T (p.Pro697Ser)
|
rs5744800
|
|
NM_006231.4(POLE):c.2090C>G (p.Pro697Arg)
|
rs36120395
|
|
NM_006231.4(POLE):c.2091C>A (p.Pro697=)
|
rs1060504055
|
|
NM_006231.4(POLE):c.2091C>T (p.Pro697=)
|
rs1060504055
|
|
NM_006231.4(POLE):c.2146G>T (p.Ala716Ser)
|
|
|
NM_006231.4(POLE):c.2173+23G>T
|
rs141477185
|
|
NM_006231.4(POLE):c.2203C>T (p.His735Tyr)
|
|
|
NM_006231.4(POLE):c.2213A>G (p.Lys738Arg)
|
rs2135970699
|
|
NM_006231.4(POLE):c.2231C>T (p.Thr744Ile)
|
|
|
NM_006231.4(POLE):c.2276G>T (p.Arg759Leu)
|
rs746774432
|
|
NM_006231.4(POLE):c.2320-23C>T
|
|
|
NM_006231.4(POLE):c.2356G>A (p.Gly786Ser)
|
rs2042773154
|
|
NM_006231.4(POLE):c.2382C>T (p.Cys794=)
|
rs767271169
|
|
NM_006231.4(POLE):c.2384A>G (p.Lys795Arg)
|
rs867677414
|
|
NM_006231.4(POLE):c.2408C>T (p.Ser803Leu)
|
rs1565962323
|
|
NM_006231.4(POLE):c.2434C>G (p.Leu812Val)
|
|
|
NM_006231.4(POLE):c.2469-25C>T
|
|
|
NM_006231.4(POLE):c.2469-32G>A
|
|
|
NM_006231.4(POLE):c.2469-40C>G
|
|
|
NM_006231.4(POLE):c.2469-50C>G
|
|
|
NM_006231.4(POLE):c.2478G>T (p.Trp826Cys)
|
rs375426113
|
|
NM_006231.4(POLE):c.254A>G (p.Tyr85Cys)
|
rs1565981016
|
|
NM_006231.4(POLE):c.2561+23G>A
|
|
|
NM_006231.4(POLE):c.2561+42G>T
|
|
|
NM_006231.4(POLE):c.2561+97_2562-48del
|
|
|
NM_006231.4(POLE):c.2562-3A>G
|
rs2135957216
|
|
NM_006231.4(POLE):c.2562-86_2562-48del
|
|
|
NM_006231.4(POLE):c.2652G>A (p.Lys884=)
|
|
|
NM_006231.4(POLE):c.2706+21C>T
|
|
|
NM_006231.4(POLE):c.2706+42G>A
|
rs2135956273
|
|
NM_006231.4(POLE):c.2706+44G>A
|
|
|
NM_006231.4(POLE):c.2707-23C>T
|
|
|
NM_006231.4(POLE):c.2731del (p.Gln911fs)
|
rs1555226051
|
|
NM_006231.4(POLE):c.286-25del
|
|
|
NM_006231.4(POLE):c.286-48G>A
|
|
|
NM_006231.4(POLE):c.2865-17_2865-16dup
|
rs369732588
|
|
NM_006231.4(POLE):c.2865-4del
|
rs369732588
|
|
NM_006231.4(POLE):c.2865-4dup
|
rs369732588
|
|
NM_006231.4(POLE):c.2865-5_2865-4del
|
rs369732588
|
|
NM_006231.4(POLE):c.2891C>G (p.Ser964Cys)
|
|
|
NM_006231.4(POLE):c.2942T>C (p.Leu981Pro)
|
rs1364597199
|
|
NM_006231.4(POLE):c.2T>C (p.Met1Thr)
|
rs879254126
|
|
NM_006231.4(POLE):c.3027G>T (p.Val1009=)
|
rs1057521358
|
|
NM_006231.4(POLE):c.3060+34A>G
|
|
|
NM_006231.4(POLE):c.3061-43G>A
|
|
|
NM_006231.4(POLE):c.3129G>A (p.Leu1043=)
|
rs1384907122
|
|
NM_006231.4(POLE):c.3132A>C (p.Glu1044Asp)
|
rs2138677462
|
|
NM_006231.4(POLE):c.3173A>G (p.Lys1058Arg)
|
|
|
NM_006231.4(POLE):c.3210G>A (p.Lys1070=)
|
|
|
NM_006231.4(POLE):c.3245G>T (p.Arg1082Leu)
|
rs201744227
|
|
NM_006231.4(POLE):c.3252C>T (p.Pro1084=)
|
rs556962209
|
|
NM_006231.4(POLE):c.3264_3275+13del
|
rs761516512
|
|
NM_006231.4(POLE):c.3275+24G>C
|
|
|
NM_006231.4(POLE):c.3275+38_3275+63del
|
|
|
NM_006231.4(POLE):c.3275+38_3275+88del
|
rs1565955594
|
|
NM_006231.4(POLE):c.3276-22T>C
|
|
|
NM_006231.4(POLE):c.330+13C>G
|
rs2043137488
|
|
NM_006231.4(POLE):c.330+36G>A
|
|
|
NM_006231.4(POLE):c.330+46C>G
|
|
|
NM_006231.4(POLE):c.331-25G>A
|
|
|
NM_006231.4(POLE):c.331-30G>A
|
|
|
NM_006231.4(POLE):c.3354C>A (p.Ser1118=)
|
|
|
NM_006231.4(POLE):c.3378+3G>T
|
|
|
NM_006231.4(POLE):c.3379-40del
|
|
|
NM_006231.4(POLE):c.3379-45C>T
|
|
|
NM_006231.4(POLE):c.3459+23G>A
|
|
|
NM_006231.4(POLE):c.3459+42T>C
|
|
|
NM_006231.4(POLE):c.3459+44_3459+45del
|
rs758788717
|
|
NM_006231.4(POLE):c.3460-43G>C
|
|
|
NM_006231.4(POLE):c.3563C>T (p.Thr1188Ile)
|
rs1565952926
|
|
NM_006231.4(POLE):c.3582+32G>A
|
|
|
NM_006231.4(POLE):c.3582+34G>A
|
rs753702996
|
|
NM_006231.4(POLE):c.3583-45G>A
|
|
|
NM_006231.4(POLE):c.3669AGC[3] (p.Ala1225dup)
|
rs750939989
|
|
NM_006231.4(POLE):c.3677C>T (p.Pro1226Leu)
|
rs1390451656
|
|
NM_006231.4(POLE):c.374A>C (p.Gln125Pro)
|
rs1286172788
|
|
NM_006231.4(POLE):c.3795+26_3795+27del
|
|
|
NM_006231.4(POLE):c.3795+31T>C
|
|
|
NM_006231.4(POLE):c.3796-34C>T
|
|
|
NM_006231.4(POLE):c.3796-3del
|
rs2138610551
|
|
NM_006231.4(POLE):c.3858_3881del (p.Ala1288_Leu1295del)
|
rs759449495
|
|
NM_006231.4(POLE):c.3863C>T (p.Ala1288Val)
|
rs1467975024
|
|
NM_006231.4(POLE):c.4031T>C (p.Leu1344Pro)
|
rs368111350
|
|
NM_006231.4(POLE):c.407A>T (p.Lys136Ile)
|
rs752771738
|
|
NM_006231.4(POLE):c.4085T>C (p.Ile1362Thr)
|
|
|
NM_006231.4(POLE):c.4149+23T>C
|
|
|
NM_006231.4(POLE):c.4150-36C>G
|
rs755471365
|
|
NM_006231.4(POLE):c.4150-37dup
|
|
|
NM_006231.4(POLE):c.423+42G>A
|
|
|
NM_006231.4(POLE):c.424-21C>T
|
|
|
NM_006231.4(POLE):c.424-44C>T
|
|
|
NM_006231.4(POLE):c.4249G>C (p.Glu1417Gln)
|
rs1593735965
|
|
NM_006231.4(POLE):c.4263A>G (p.Pro1421=)
|
|
|
NM_006231.4(POLE):c.4290+30G>A
|
|
|
NM_006231.4(POLE):c.4290+40C>T
|
|
|
NM_006231.4(POLE):c.4291-11G>C
|
rs369564167
|
|
NM_006231.4(POLE):c.4291-22C>T
|
rs759282531
|
|
NM_006231.4(POLE):c.4291-24G>A
|
|
|
NM_006231.4(POLE):c.4291-7C>A
|
rs1060504076
|
|
NM_006231.4(POLE):c.4293T>C (p.Val1431=)
|
|
|
NM_006231.4(POLE):c.4444+10G>T
|
rs761312129
|
|
NM_006231.4(POLE):c.4445-35C>T
|
|
|
NM_006231.4(POLE):c.4445-36A>G
|
|
|
NM_006231.4(POLE):c.4450A>G (p.Ile1484Val)
|
rs772734618
|
|
NM_006231.4(POLE):c.4492G>A (p.Ala1498Thr)
|
rs757232557
|
|
NM_006231.4(POLE):c.4510A>G (p.Ile1504Val)
|
|
|
NM_006231.4(POLE):c.4552-10G>T
|
rs5744946
|
|
NM_006231.4(POLE):c.4552-40C>T
|
|
|
NM_006231.4(POLE):c.4645C>G (p.Pro1549Ala)
|
rs147500308
|
|
NM_006231.4(POLE):c.4669G>A (p.Ala1557Thr)
|
|
|
NM_006231.4(POLE):c.4729-18del
|
|
|
NM_006231.4(POLE):c.4792A>C (p.Ser1598Arg)
|
rs776538943
|
|
NM_006231.4(POLE):c.4821A>C (p.Pro1607=)
|
|
|
NM_006231.4(POLE):c.4877G>A (p.Arg1626His)
|
rs766252708
|
|
NM_006231.4(POLE):c.4877G>T (p.Arg1626Leu)
|
rs766252708
|
|
NM_006231.4(POLE):c.4952+17_4952+19dup
|
rs571641918
|
|
NM_006231.4(POLE):c.4952+20_4952+22del
|
rs752389775
|
|
NM_006231.4(POLE):c.4952+34C>T
|
|
|
NM_006231.4(POLE):c.4952+47C>T
|
|
|
NM_006231.4(POLE):c.4952+48G>A
|
|
|
NM_006231.4(POLE):c.4953-38G>A
|
|
|
NM_006231.4(POLE):c.5012T>A (p.Leu1671His)
|
|
|
NM_006231.4(POLE):c.5066C>T (p.Thr1689Ile)
|
|
|
NM_006231.4(POLE):c.510C>G (p.Ile170Met)
|
rs374074035
|
|
NM_006231.4(POLE):c.5156C>A (p.Ser1719Ter)
|
|
|
NM_006231.4(POLE):c.5190C>T (p.Asp1730=)
|
rs1232184956
|
|
NM_006231.4(POLE):c.520G>A (p.Val174Met)
|
rs1250780418
|
|
NM_006231.4(POLE):c.5337G>A (p.Pro1779=)
|
rs749991080
|
|
NM_006231.4(POLE):c.5378+22A>C
|
rs2138522472
|
|
NM_006231.4(POLE):c.5378+23G>C
|
|
|
NM_006231.4(POLE):c.5521C>T (p.Leu1841Phe)
|
rs2138508674
|
|
NM_006231.4(POLE):c.5548C>T (p.Leu1850=)
|
|
|
NM_006231.4(POLE):c.5552+33C>T
|
|
|
NM_006231.4(POLE):c.5679-22G>A
|
|
|
NM_006231.4(POLE):c.5679-26C>T
|
|
|
NM_006231.4(POLE):c.578+42C>T
|
|
|
NM_006231.4(POLE):c.5811+25C>T
|
|
|
NM_006231.4(POLE):c.5811+43C>T
|
|
|
NM_006231.4(POLE):c.5812-30_5812-29del
|
|
|
NM_006231.4(POLE):c.5820C>T (p.Ser1940=)
|
rs1593712510
|
|
NM_006231.4(POLE):c.5888_5914dup (p.Glu1963_Asn1971dup)
|
rs778066364
|
|
NM_006231.4(POLE):c.5905G>A (p.Glu1969Lys)
|
|
|
NM_006231.4(POLE):c.5998G>A (p.Val2000Ile)
|
|
|
NM_006231.4(POLE):c.6004+24G>T
|
rs1453853935
|
|
NM_006231.4(POLE):c.6085G>T (p.Gly2029Trp)
|
|
|
NM_006231.4(POLE):c.6087G>T (p.Gly2029=)
|
|
|
NM_006231.4(POLE):c.6088del (p.Ala2030fs)
|
rs1060500809
|
|
NM_006231.4(POLE):c.6137-24C>T
|
|
|
NM_006231.4(POLE):c.62+21G>C
|
rs2136051698
|
|
NM_006231.4(POLE):c.62+50A>G
|
|
|
NM_006231.4(POLE):c.63-42T>A
|
|
|
NM_006231.4(POLE):c.63-52CAG[4]
|
|
|
NM_006231.4(POLE):c.6312C>G (p.Phe2104Leu)
|
rs1555220869
|
|
NM_006231.4(POLE):c.6330+21G>A
|
|
|
NM_006231.4(POLE):c.6330+26G>A
|
|
|
NM_006231.4(POLE):c.6331-18G>A
|
|
|
NM_006231.4(POLE):c.6331-37G>A
|
rs539858706
|
|
NM_006231.4(POLE):c.6334C>T (p.Leu2112=)
|
rs373443211
|
|
NM_006231.4(POLE):c.6368A>C (p.Asn2123Thr)
|
rs2041838354
|
|
NM_006231.4(POLE):c.6446G>A (p.Arg2149His)
|
rs201165149
|
|
NM_006231.4(POLE):c.6531+18C>T
|
rs768260829
|
|
NM_006231.4(POLE):c.6531+29C>T
|
|
|
NM_006231.4(POLE):c.6531+47G>A
|
|
|
NM_006231.4(POLE):c.6532-29G>T
|
|
|
NM_006231.4(POLE):c.6575C>G (p.Ala2192Gly)
|
rs756301031
|
|
NM_006231.4(POLE):c.6597C>A (p.Ile2199=)
|
rs147611144
|
|
NM_006231.4(POLE):c.6657+45G>C
|
|
|
NM_006231.4(POLE):c.6657+46G>A
|
|
|
NM_006231.4(POLE):c.6657+49G>A
|
|
|
NM_006231.4(POLE):c.6658-17G>C
|
rs1342659224
|
|
NM_006231.4(POLE):c.6658-19C>G
|
rs5745081
|
|
NM_006231.4(POLE):c.6658-33G>C
|
|
|
NM_006231.4(POLE):c.6658-40C>T
|
|
|
NM_006231.4(POLE):c.6658-8C>T
|
rs2041802758
|
|
NM_006231.4(POLE):c.6747+11_6747+14del
|
rs1555300789
|
|
NM_006231.4(POLE):c.6747+25G>T
|
|
|
NM_006231.4(POLE):c.6747+28C>T
|
|
|
NM_006231.4(POLE):c.6747+36C>G
|
|
|
NM_006231.4(POLE):c.6748-28G>T
|
|
|
NM_006231.4(POLE):c.6748-29G>C
|
|
|
NM_006231.4(POLE):c.6765C>T (p.Ile2255=)
|
rs376336585
|
|
NM_006231.4(POLE):c.6836A>G (p.Gln2279Arg)
|
rs1593693369
|
|
NM_006231.4(POLE):c.720+47G>A
|
|
|
NM_006231.4(POLE):c.721-25A>G
|
rs749201176
|
|
NM_006231.4(POLE):c.721-35_721-27dup
|
|
|
NM_006231.4(POLE):c.746G>A (p.Arg249Gln)
|
rs1331349861
|
|
NM_006231.4(POLE):c.797G>A (p.Arg266Gln)
|
rs115786159
|
|
NM_006231.4(POLE):c.801+48G>T
|
|
|
NM_006231.4(POLE):c.802-6C>T
|
rs754779082
|
|
NM_006231.4(POLE):c.862G>C (p.Ala288Pro)
|
rs1593079445
|
|
NM_006231.4(POLE):c.86T>A (p.Val29Asp)
|
|
|
NM_006231.4(POLE):c.909+44C>T
|
|
|
NM_006231.4(POLE):c.968C>T (p.Thr323Ile)
|
rs1060500873
|
|
NM_006231.4(POLE):c.998G>A (p.Cys333Tyr)
|
|
|
NM_006254.4(PRKCD):c.986A>G (p.Asp329Gly)
|
|
|
NM_006303.4(AIMP2):c.-298G>C
|
|
|
NM_006303.4(AIMP2):c.-307dupT
|
|
|
NM_006363.6(SEC23B):c.2153G>A (p.Arg718Gln)
|
rs1443733304
|
|
NM_006363.6(SEC23B):c.640C>T (p.Gln214Ter)
|
|
|
NM_006445.4(PRPF8):c.3019G>A (p.Asp1007Asn)
|
|
|
NM_006468.8(POLR3C):c.298A>G (p.Ser100Gly)
|
|
|
NM_006496.4(GNAI3):c.169C>T (p.His57Tyr)
|
|
|
NM_006563.5(KLF1):c.973G>A (p.Glu325Lys)
|
rs267607201
|
|
NM_006565.4(CTCF):c.1785dup (p.Arg596fs)
|
|
|
NM_006590.4(USP39):c.570G>A (p.Thr190=)
|
|
|
NM_006715.4(MAN2C1):c.115A>G (p.Ser39Gly)
|
|
|
NM_006715.4(MAN2C1):c.2296G>A (p.Gly766Ser)
|
|
|
NM_006767.4(LZTR1):c.1199T>C (p.Met400Thr)
|
|
|
NM_006852.6(TLK2):c.628-2_628del
|
|
|
NM_006940.6(SOX5):c.1691T>C (p.Met564Thr)
|
|
|
NM_006949.4(STXBP2):c.1586G>C (p.Arg529Pro)
|
rs35490401
|
|
NM_006949.4(STXBP2):c.1621G>A (p.Gly541Ser)
|
rs61736587
|
|
NM_006996.3(SLC19A2):c.196G>T (p.Glu66Ter)
|
|
|
NM_007194.4(CHEK2):c.-6-19T>C
|
|
|
NM_007194.4(CHEK2):c.-6-29C>G
|
|
|
NM_007194.4(CHEK2):c.1008+25G>T
|
|
|
NM_007194.4(CHEK2):c.1016A>G (p.His339Arg)
|
rs1555914365
|
|
NM_007194.4(CHEK2):c.1095+1G>A
|
rs768172525
|
|
NM_007194.4(CHEK2):c.1095+23G>C
|
|
|
NM_007194.4(CHEK2):c.1095+35G>A
|
|
|
NM_007194.4(CHEK2):c.1096-14del
|
|
|
NM_007194.4(CHEK2):c.1096-47del
|
|
|
NM_007194.4(CHEK2):c.1103A>G (p.Asp368Gly)
|
rs1555913929
|
|
NM_007194.4(CHEK2):c.1109G>C (p.Gly370Ala)
|
rs587780166
|
|
NM_007194.4(CHEK2):c.1116C>T (p.Ser372=)
|
rs79357544
|
|
NM_007194.4(CHEK2):c.1116_1117inv (p.Lys373Glu)
|
|
|
NM_007194.4(CHEK2):c.1117A>G (p.Lys373Glu)
|
rs74751600
|
|
NM_007194.4(CHEK2):c.1183G>C (p.Val395Leu)
|
rs587780170
|
|
NM_007194.4(CHEK2):c.122C>T (p.Ser41Phe)
|
rs121908694
|
|
NM_007194.4(CHEK2):c.1243G>A (p.Val415Ile)
|
rs1601721900
|
|
NM_007194.4(CHEK2):c.1256T>G (p.Ile419Ser)
|
rs1601721712
|
|
NM_007194.4(CHEK2):c.126T>C (p.Ser42=)
|
|
|
NM_007194.4(CHEK2):c.1338C>T (p.Asn446=)
|
|
|
NM_007194.4(CHEK2):c.1382A>G (p.Asp461Gly)
|
rs1555913188
|
|
NM_007194.4(CHEK2):c.1420C>A (p.Arg474Ser)
|
rs540635787
|
|
NM_007194.4(CHEK2):c.1428G>C (p.Thr476=)
|
rs1060504697
|
|
NM_007194.4(CHEK2):c.1448A>T (p.His483Leu)
|
|
|
NM_007194.4(CHEK2):c.1461+36A>G
|
|
|
NM_007194.4(CHEK2):c.1461+5G>T
|
rs769841229
|
|
NM_007194.4(CHEK2):c.1461G>A (p.Gln487=)
|
rs1060502701
|
|
NM_007194.4(CHEK2):c.1462-40C>G
|
|
|
NM_007194.4(CHEK2):c.1471A>T (p.Met491Leu)
|
rs1555912088
|
|
NM_007194.4(CHEK2):c.1481del (p.Lys494fs)
|
rs2052247122
|
|
NM_007194.4(CHEK2):c.148A>C (p.Ser50Arg)
|
rs1569171013
|
|
NM_007194.4(CHEK2):c.1543-37T>G
|
|
|
NM_007194.4(CHEK2):c.1570G>A (p.Glu524Lys)
|
rs876658872
|
|
NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1])
|
rs587780181
|
|
NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[3] (p.Glu86_Glu87insAspGlnGluProGlu)
|
rs587780181
|
|
NM_007194.4(CHEK2):c.274C>G (p.Pro92Ala)
|
|
|
NM_007194.4(CHEK2):c.322T>C (p.Cys108Arg)
|
rs730881681
|
|
NM_007194.4(CHEK2):c.406T>C (p.Tyr136His)
|
rs1555927222
|
|
NM_007194.4(CHEK2):c.412A>C (p.Thr138Pro)
|
|
|
NM_007194.4(CHEK2):c.445-26C>T
|
|
|
NM_007194.4(CHEK2):c.445-40_445-39del
|
|
|
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del)
|
rs587782008
|
|
NM_007194.4(CHEK2):c.507del (p.Phe169fs)
|
rs587780183
|
|
NM_007194.4(CHEK2):c.560C>A (p.Ser187Tyr)
|
rs1555926784
|
|
NM_007194.4(CHEK2):c.592+39dup
|
|
|
NM_007194.4(CHEK2):c.592+44TC[2]
|
|
|
NM_007194.4(CHEK2):c.593-11_593-7del
|
rs863224414
|
|
NM_007194.4(CHEK2):c.683+44A>G
|
|
|
NM_007194.4(CHEK2):c.703A>G (p.Lys235Glu)
|
rs780245843
|
|
NM_007194.4(CHEK2):c.792+24C>T
|
|
|
NM_007194.4(CHEK2):c.792+27C>T
|
|
|
NM_007194.4(CHEK2):c.792+39C>T
|
|
|
NM_007194.4(CHEK2):c.792+42C>G
|
|
|
NM_007194.4(CHEK2):c.793-32A>T
|
|
|
NM_007194.4(CHEK2):c.793-33dup
|
|
|
NM_007194.4(CHEK2):c.823del (p.Glu275fs)
|
rs769430546
|
|
NM_007194.4(CHEK2):c.839T>G (p.Leu280Arg)
|
rs1490781911
|
|
NM_007194.4(CHEK2):c.846+14T>C
|
|
|
NM_007194.4(CHEK2):c.846+26T>G
|
|
|
NM_007194.4(CHEK2):c.846+35T>C
|
|
|
NM_007194.4(CHEK2):c.846+4_846+7del
|
rs764884641
|
|
NM_007194.4(CHEK2):c.847-34C>T
|
|
|
NM_007194.4(CHEK2):c.893_897del (p.Tyr298fs)
|
rs1390889028
|
|
NM_007194.4(CHEK2):c.907T>C (p.Leu303=)
|
rs752359705
|
|
NM_007194.4(CHEK2):c.946A>T (p.Asn316Tyr)
|
|
|
NM_007294.4(BRCA1):c.*13A>C
|
|
|
NM_007294.4(BRCA1):c.*31G>A
|
|
|
NM_007294.4(BRCA1):c.-13G>A
|
rs431825383
|
|
NM_007294.4(BRCA1):c.-19-21T>C
|
|
|
NM_007294.4(BRCA1):c.1016dup (p.Val340fs)
|
rs80357569
|
|
NM_007294.4(BRCA1):c.1082_1092del (p.Cys360_Ser361insTer)
|
rs80359880
|
|
NM_007294.4(BRCA1):c.1100C>G (p.Thr367Ser)
|
|
|
NM_007294.4(BRCA1):c.1108G>C (p.Val370Leu)
|
rs1567800850
|
|
NM_007294.4(BRCA1):c.115T>G (p.Cys39Gly)
|
rs80357164
|
|
NM_007294.4(BRCA1):c.1291T>A (p.Leu431Ile)
|
rs960381964
|
|
NM_007294.4(BRCA1):c.130T>A (p.Cys44Ser)
|
rs80357327
|
|
NM_007294.4(BRCA1):c.131G>A (p.Cys44Tyr)
|
rs80357446
|
|
NM_007294.4(BRCA1):c.132C>T (p.Cys44=)
|
rs876658362
|
|
NM_007294.4(BRCA1):c.134+40del
|
|
|
NM_007294.4(BRCA1):c.134+5G>C
|
rs80358038
|
|
NM_007294.4(BRCA1):c.140G>T (p.Cys47Phe)
|
rs80357150
|
|
NM_007294.4(BRCA1):c.142A>G (p.Met48Val)
|
rs879255477
|
|
NM_007294.4(BRCA1):c.1504_1508del (p.Leu502fs)
|
rs80357888
|
|
NM_007294.4(BRCA1):c.1556del (p.Lys519fs)
|
rs80357662
|
|
NM_007294.4(BRCA1):c.1703C>T (p.Pro568Leu)
|
rs80356910
|
|
NM_007294.4(BRCA1):c.1718C>T (p.Ser573Leu)
|
rs876660434
|
|
NM_007294.4(BRCA1):c.172C>A (p.Pro58Thr)
|
rs397508904
|
|
NM_007294.4(BRCA1):c.1799T>C (p.Ile600Thr)
|
rs398122643
|
|
NM_007294.4(BRCA1):c.1803C>A (p.His601Gln)
|
|
|
NM_007294.4(BRCA1):c.1843TCT[1] (p.Ser616del)
|
rs80358329
|
|
NM_007294.4(BRCA1):c.1912del (p.Glu638fs)
|
rs80357933
|
|
NM_007294.4(BRCA1):c.191G>A (p.Cys64Tyr)
|
rs55851803
|
|
NM_007294.4(BRCA1):c.1961del (p.Lys654fs)
|
rs80357522
|
|
NM_007294.4(BRCA1):c.2042G>A (p.Ser681Asn)
|
rs1452826319
|
|
NM_007294.4(BRCA1):c.2076dup (p.Asp693Ter)
|
|
|
NM_007294.4(BRCA1):c.2083G>T (p.Asp695Tyr)
|
rs28897681
|
|
NM_007294.4(BRCA1):c.212+17T>C
|
rs369461674
|
|
NM_007294.4(BRCA1):c.212+21G>T
|
rs80358147
|
|
NM_007294.4(BRCA1):c.212+31A>T
|
|
|
NM_007294.4(BRCA1):c.2188_2192del (p.Glu730fs)
|
|
|
NM_007294.4(BRCA1):c.2214dup (p.Lys739Ter)
|
rs80357574
|
|
NM_007294.4(BRCA1):c.2223T>C (p.Ser741=)
|
rs1555590129
|
|
NM_007294.4(BRCA1):c.2232T>C (p.Ala744=)
|
rs4986846
|
|
NM_007294.4(BRCA1):c.2266_2267del (p.Arg756fs)
|
|
|
NM_007294.4(BRCA1):c.2355A>C (p.Leu785Phe)
|
rs1567795966
|
|
NM_007294.4(BRCA1):c.2402G>C (p.Cys801Ser)
|
|
|
NM_007294.4(BRCA1):c.241C>T (p.Gln81Ter)
|
rs80357350
|
|
NM_007294.4(BRCA1):c.2426A>G (p.Glu809Gly)
|
rs397507201
|
|
NM_007294.4(BRCA1):c.2457C>G (p.Ser819=)
|
|
|
NM_007294.4(BRCA1):c.2504A>C (p.His835Pro)
|
rs765157365
|
|
NM_007294.4(BRCA1):c.2524dup (p.Glu842fs)
|
rs886040045
|
|
NM_007294.4(BRCA1):c.255G>A (p.Glu85=)
|
rs756499058
|
|
NM_007294.4(BRCA1):c.255G>C (p.Glu85Asp)
|
rs756499058
|
|
NM_007294.4(BRCA1):c.2607dup (p.Ala870fs)
|
|
|
NM_007294.4(BRCA1):c.2682A>G (p.Lys894=)
|
rs1131692093
|
|
NM_007294.4(BRCA1):c.2716_2730del (p.Lys906_Gln910del)
|
rs755789142
|
|
NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter)
|
rs80356978
|
|
NM_007294.4(BRCA1):c.279del (p.Gln94fs)
|
rs2154551873
|
|
NM_007294.4(BRCA1):c.2836A>G (p.Ile946Val)
|
rs876660901
|
|
NM_007294.4(BRCA1):c.2989_2990dup (p.Asn997fs)
|
rs80357829
|
|
NM_007294.4(BRCA1):c.2993T>A (p.Leu998Gln)
|
rs1567793330
|
|
NM_007294.4(BRCA1):c.302-21del
|
|
|
NM_007294.4(BRCA1):c.302-24_302-22del
|
rs756577139
|
|
NM_007294.4(BRCA1):c.302-41T>C
|
rs8176135
|
|
NM_007294.4(BRCA1):c.302-5T>C
|
rs778668665
|
|
NM_007294.4(BRCA1):c.3048_3052dup (p.Asn1018fs)
|
rs80357856
|
|
NM_007294.4(BRCA1):c.3112del (p.Glu1038fs)
|
|
|
NM_007294.4(BRCA1):c.3209C>G (p.Ala1070Gly)
|
rs397507212
|
|
NM_007294.4(BRCA1):c.3228_3229del (p.Gly1077fs)
|
rs80357635
|
|
NM_007294.4(BRCA1):c.3230G>A (p.Gly1077Glu)
|
rs1567792424
|
|
NM_007294.4(BRCA1):c.3262dup (p.Val1088fs)
|
rs397509049
|
|
NM_007294.4(BRCA1):c.329dup (p.Glu111fs)
|
rs80357604
|
|
NM_007294.4(BRCA1):c.3307_3308insC (p.Cys1103fs)
|
rs1555587988
|
|
NM_007294.4(BRCA1):c.3319G>T (p.Glu1107Ter)
|
rs80357106
|
|
NM_007294.4(BRCA1):c.3327_3330del (p.Lys1109fs)
|
|
|
NM_007294.4(BRCA1):c.3330del (p.Lys1110fs)
|
rs886038011
|
|
NM_007294.4(BRCA1):c.3331_3334del (p.Gln1111fs)
|
rs80357701
|
|
NM_007294.4(BRCA1):c.3359_3360del (p.Val1120fs)
|
rs80357843
|
|
NM_007294.4(BRCA1):c.3372C>G (p.Phe1124Leu)
|
|
|
NM_007294.4(BRCA1):c.3400G>T (p.Glu1134Ter)
|
rs80357018
|
|
NM_007294.4(BRCA1):c.3478_3487del (p.Lys1160fs)
|
rs786203694
|
|
NM_007294.4(BRCA1):c.3481_3491del (p.Glu1161fs)
|
rs80357877
|
|
NM_007294.4(BRCA1):c.3489T>C (p.Thr1163=)
|
|
|
NM_007294.4(BRCA1):c.351T>A (p.His117Gln)
|
rs2154549630
|
|
NM_007294.4(BRCA1):c.3597T>A (p.Ala1199=)
|
rs1555587434
|
|
NM_007294.4(BRCA1):c.3626del (p.Lys1208_Leu1209insTer)
|
rs80357571
|
|
NM_007294.4(BRCA1):c.3666G>C (p.Glu1222Asp)
|
rs1555587312
|
|
NM_007294.4(BRCA1):c.3700_3704del (p.Val1234fs)
|
rs80357609
|
|
NM_007294.4(BRCA1):c.3710del (p.Ile1237fs)
|
rs80357564
|
|
NM_007294.4(BRCA1):c.3718C>T (p.Gln1240Ter)
|
rs80356903
|
|
NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs)
|
rs80357868
|
|
NM_007294.4(BRCA1):c.3770_3771del (p.Glu1257fs)
|
rs80357579
|
|
NM_007294.4(BRCA1):c.3776A>C (p.Asn1259Thr)
|
rs483353090
|
|
NM_007294.4(BRCA1):c.3874del (p.Ser1292fs)
|
rs587780802
|
|
NM_007294.4(BRCA1):c.3904G>T (p.Glu1302Ter)
|
rs80357461
|
|
NM_007294.4(BRCA1):c.390C>A (p.Tyr130Ter)
|
rs80356888
|
|
NM_007294.4(BRCA1):c.3914del (p.Asp1305fs)
|
rs397509118
|
|
NM_007294.4(BRCA1):c.3974G>A (p.Arg1325Lys)
|
rs921253348
|
|
NM_007294.4(BRCA1):c.3997G>A (p.Val1333Ile)
|
|
|
NM_007294.4(BRCA1):c.4035del (p.Glu1346fs)
|
rs80357711
|
|
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs)
|
rs80357508
|
|
NM_007294.4(BRCA1):c.4088C>G (p.Ser1363Ter)
|
rs398122680
|
|
NM_007294.4(BRCA1):c.4096+3A>G
|
rs80358015
|
|
NM_007294.4(BRCA1):c.4148C>T (p.Ser1383Leu)
|
rs80357071
|
|
NM_007294.4(BRCA1):c.4159T>C (p.Ser1387Pro)
|
rs876658221
|
|
NM_007294.4(BRCA1):c.4172T>C (p.Ile1391Thr)
|
rs397509146
|
|
NM_007294.4(BRCA1):c.4185+11TG[5]
|
rs273900723
|
|
NM_007294.4(BRCA1):c.4185+34G>A
|
|
|
NM_007294.4(BRCA1):c.4186-10G>A
|
rs80358172
|
|
NM_007294.4(BRCA1):c.4186-50A>C
|
|
|
NM_007294.4(BRCA1):c.4193A>G (p.Asp1398Gly)
|
rs761640584
|
|
NM_007294.4(BRCA1):c.426C>T (p.Pro142=)
|
rs542687218
|
|
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter)
|
rs41293455
|
|
NM_007294.4(BRCA1):c.432_433del (p.Pro145fs)
|
|
|
NM_007294.4(BRCA1):c.4336G>T (p.Glu1446Ter)
|
|
|
NM_007294.4(BRCA1):c.4358-2del
|
rs1353755235
|
|
NM_007294.4(BRCA1):c.4389C>A (p.Tyr1463Ter)
|
rs80356997
|
|
NM_007294.4(BRCA1):c.4399C>G (p.Gln1467Glu)
|
|
|
NM_007294.4(BRCA1):c.439T>C (p.Leu147=)
|
rs794727800
|
|
NM_007294.4(BRCA1):c.441+18CTT[6]
|
rs147856441
|
|
NM_007294.4(BRCA1):c.441+18CTT[8]
|
rs147856441
|
|
NM_007294.4(BRCA1):c.441+33_441+39del
|
|
|
NM_007294.4(BRCA1):c.441+33_441+49del
|
|
|
NM_007294.4(BRCA1):c.441+36_441+49del
|
rs373413425
|
|
NM_007294.4(BRCA1):c.4456A>G (p.Ser1486Gly)
|
|
|
NM_007294.4(BRCA1):c.4485-36G>T
|
|
|
NM_007294.4(BRCA1):c.4532A>C (p.His1511Pro)
|
rs1555582004
|
|
NM_007294.4(BRCA1):c.4553A>G (p.Gln1518Arg)
|
|
|
NM_007294.4(BRCA1):c.4614G>A (p.Gln1538=)
|
rs1555581876
|
|
NM_007294.4(BRCA1):c.4624T>C (p.Ser1542Pro)
|
rs2052595821
|
|
NM_007294.4(BRCA1):c.4634A>G (p.His1545Arg)
|
rs1597835935
|
|
NM_007294.4(BRCA1):c.4636G>T (p.Asp1546Tyr)
|
rs28897691
|
|
NM_007294.4(BRCA1):c.4675+1G>A
|
rs80358044
|
|
NM_007294.4(BRCA1):c.4676-1G>T
|
rs80358008
|
|
NM_007294.4(BRCA1):c.4745del (p.Asp1582fs)
|
rs80357907
|
|
NM_007294.4(BRCA1):c.4767T>A (p.Arg1589=)
|
rs587780864
|
|
NM_007294.4(BRCA1):c.4769T>G (p.Val1590Gly)
|
rs773524529
|
|
NM_007294.4(BRCA1):c.4849G>A (p.Ala1617Thr)
|
|
|
NM_007294.4(BRCA1):c.4913A>T (p.Glu1638Val)
|
rs2052380495
|
|
NM_007294.4(BRCA1):c.4945A>T (p.Arg1649Ter)
|
rs1312537519
|
|
NM_007294.4(BRCA1):c.4951T>C (p.Ser1651Pro)
|
rs879254042
|
|
NM_007294.4(BRCA1):c.4964C>T (p.Ser1655Phe)
|
rs80357390
|
|
NM_007294.4(BRCA1):c.4986+1G>A
|
rs80358162
|
|
NM_007294.4(BRCA1):c.5074G>A (p.Asp1692Asn)
|
rs80187739
|
|
NM_007294.4(BRCA1):c.5075-43T>A
|
|
|
NM_007294.4(BRCA1):c.5106A>G (p.Lys1702=)
|
rs1060504574
|
|
NM_007294.4(BRCA1):c.5138T>C (p.Val1713Ala)
|
rs80357132
|
|
NM_007294.4(BRCA1):c.5143A>C (p.Ser1715Arg)
|
rs80357222
|
|
NM_007294.4(BRCA1):c.5152+30C>T
|
|
|
NM_007294.4(BRCA1):c.5152+9A>T
|
rs1060504576
|
|
NM_007294.4(BRCA1):c.5153-1G>C
|
rs80358137
|
|
NM_007294.4(BRCA1):c.5153-32T>C
|
|
|
NM_007294.4(BRCA1):c.5153-35C>T
|
rs1425411094
|
|
NM_007294.4(BRCA1):c.5156T>A (p.Val1719Glu)
|
rs1247437511
|
|
NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe)
|
rs80357104
|
|
NM_007294.4(BRCA1):c.5193+43_5193+46del
|
|
|
NM_007294.4(BRCA1):c.5194-2_5195del
|
|
|
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala)
|
rs45553935
|
|
NM_007294.4(BRCA1):c.5213G>A (p.Gly1738Glu)
|
rs80357450
|
|
NM_007294.4(BRCA1):c.5254G>C (p.Ala1752Pro)
|
rs80357074
|
|
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs)
|
rs80357906
|
|
NM_007294.4(BRCA1):c.5277+21T>C
|
|
|
NM_007294.4(BRCA1):c.5309G>T (p.Gly1770Val)
|
rs863224765
|
|
NM_007294.4(BRCA1):c.5313C>T (p.Pro1771=)
|
rs1131692076
|
|
NM_007294.4(BRCA1):c.5318C>T (p.Thr1773Ile)
|
rs80357428
|
|
NM_007294.4(BRCA1):c.5333-12T>G
|
rs1170399168
|
|
NM_007294.4(BRCA1):c.5333-35A>C
|
rs775618857
|
|
NM_007294.4(BRCA1):c.5333-46G>A
|
rs1347755058
|
|
NM_007294.4(BRCA1):c.5360G>A (p.Cys1787Tyr)
|
rs1597801649
|
|
NM_007294.4(BRCA1):c.5365G>A (p.Ala1789Thr)
|
rs80357078
|
|
NM_007294.4(BRCA1):c.5365G>T (p.Ala1789Ser)
|
rs80357078
|
|
NM_007294.4(BRCA1):c.5375T>A (p.Val1792Glu)
|
rs2051082443
|
|
NM_007294.4(BRCA1):c.5392T>A (p.Phe1798Ile)
|
rs2051076501
|
|
NM_007294.4(BRCA1):c.5406+1G>T
|
rs80358028
|
|
NM_007294.4(BRCA1):c.5425G>T (p.Val1809Phe)
|
rs28897698
|
|
NM_007294.4(BRCA1):c.547+14del
|
rs273902771
|
|
NM_007294.4(BRCA1):c.548-3del
|
rs398122353
|
|
NM_007294.4(BRCA1):c.5504G>C (p.Arg1835Pro)
|
rs273902776
|
|
NM_007294.4(BRCA1):c.5518G>T (p.Asp1840Tyr)
|
rs1567756588
|
|
NM_007294.4(BRCA1):c.5561T>C (p.Leu1854Pro)
|
rs80356996
|
|
NM_007294.4(BRCA1):c.587A>T (p.Tyr196Phe)
|
rs1555594039
|
|
NM_007294.4(BRCA1):c.594-13C>A
|
rs2154515466
|
|
NM_007294.4(BRCA1):c.623C>T (p.Thr208Ile)
|
|
|
NM_007294.4(BRCA1):c.628C>T (p.Gln210Ter)
|
rs879255495
|
|
NM_007294.4(BRCA1):c.668dup (p.Ala224fs)
|
rs80357537
|
|
NM_007294.4(BRCA1):c.66A>G (p.Leu22=)
|
rs786202533
|
|
NM_007294.4(BRCA1):c.66dup (p.Glu23fs)
|
rs80357783
|
|
NM_007294.4(BRCA1):c.670+1del
|
rs886040922
|
|
NM_007294.4(BRCA1):c.671-12del
|
rs273902781
|
|
NM_007294.4(BRCA1):c.671-18_671-16del
|
rs398122354
|
|
NM_007294.4(BRCA1):c.671-49dup
|
rs273902784
|
|
NM_007294.4(BRCA1):c.677G>A (p.Cys226Tyr)
|
rs1376262238
|
|
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs)
|
rs80357914
|
|
NM_007294.4(BRCA1):c.695A>T (p.Asp232Val)
|
rs398122708
|
|
NM_007294.4(BRCA1):c.697_698del (p.Val233fs)
|
rs80357747
|
|
NM_007294.4(BRCA1):c.763G>T (p.Glu255Ter)
|
rs80357009
|
|
NM_007294.4(BRCA1):c.80+16A>T
|
rs747618610
|
|
NM_007294.4(BRCA1):c.80+48C>T
|
|
|
NM_007294.4(BRCA1):c.81-12del
|
rs273902789
|
|
NM_007294.4(BRCA1):c.81-12dup
|
rs273902789
|
|
NM_007294.4(BRCA1):c.81-14C>T
|
rs80358006
|
|
NM_007294.4(BRCA1):c.81-23T>C
|
rs1287290908
|
|
NM_007294.4(BRCA1):c.823G>A (p.Gly275Ser)
|
rs8176153
|
|
NM_007294.4(BRCA1):c.843_846del (p.Ser282fs)
|
rs80357919
|
|
NM_007294.4(BRCA1):c.953A>G (p.His318Arg)
|
rs776278453
|
|
NM_007294.4(BRCA1):c.957C>T (p.Asn319=)
|
rs1057524333
|
|
NM_007315.4(STAT1):c.820C>T (p.Arg274Trp)
|
rs387906758
|
|
NM_013275.6(ANKRD11):c.2073dup (p.Asp692fs)
|
|
|
NM_013372.7(GREM1):c.-1-23C>G
|
rs538020861
|
|
NM_013372.7(GREM1):c.-122A>T
|
|
|
NM_013372.7(GREM1):c.-180G>A
|
|
|
NM_013372.7(GREM1):c.-192G>T
|
|
|
NM_013372.7(GREM1):c.-196C>G
|
|
|
NM_013372.7(GREM1):c.-2+37C>T
|
|
|
NM_013372.7(GREM1):c.-2+9G>C
|
rs1318786176
|
|
NM_013372.7(GREM1):c.-209C>T
|
|
|
NM_013372.7(GREM1):c.-23C>G
|
rs572282473
|
|
NM_013372.7(GREM1):c.-41C>T
|
|
|
NM_013372.7(GREM1):c.-64C>G
|
|
|
NM_013372.7(GREM1):c.-72G>A
|
|
|
NM_013372.7(GREM1):c.-85G>A
|
|
|
NM_013372.7(GREM1):c.10A>G (p.Thr4Ala)
|
|
|
NM_013372.7(GREM1):c.140C>T (p.Thr47Ile)
|
|
|
NM_013372.7(GREM1):c.173_184dup (p.Gly61_Gln62insArgGlyArgGly)
|
|
|
NM_013372.7(GREM1):c.240C>A (p.Ala80=)
|
|
|
NM_013372.7(GREM1):c.251C>T (p.Thr84Met)
|
|
|
NM_013372.7(GREM1):c.255G>A (p.Glu85=)
|
|
|
NM_013372.7(GREM1):c.522G>A (p.Lys174=)
|
|
|
NM_013372.7(GREM1):c.530G>T (p.Arg177Leu)
|
|
|
NM_014026.6(DCPS):c.724A>G (p.Arg242Gly)
|
|
|
NM_014208.3(DSPP):c.3019del (p.Ser1007fs)
|
|
|
NM_014585.6(SLC40A1):c.187G>A (p.Val63Ile)
|
|
|
NM_014967.5(FAN1):c.2128C>T (p.Arg710Ter)
|
|
|
NM_014991.6(WDFY3):c.217A>T (p.Lys73Ter)
|
|
|
NM_015175.3(NBEAL2):c.925+5del
|
|
|
NM_015335.5(MED13L):c.5920C>T (p.Arg1974Ter)
|
|
|
NM_015450.3(POT1):c.*29A>G
|
|
|
NM_015450.3(POT1):c.-18G>T
|
rs1481216456
|
|
NM_015450.3(POT1):c.-39-8dup
|
|
|
NM_015450.3(POT1):c.1006+33A>G
|
|
|
NM_015450.3(POT1):c.1006+9A>G
|
rs757922302
|
|
NM_015450.3(POT1):c.101C>T (p.Pro34Leu)
|
rs1796390766
|
|
NM_015450.3(POT1):c.1117A>C (p.Arg373=)
|
|
|
NM_015450.3(POT1):c.1122A>G (p.Leu374=)
|
rs143283657
|
|
NM_015450.3(POT1):c.1163+29T>G
|
|
|
NM_015450.3(POT1):c.1163+3_1163+6del
|
rs1407823530
|
|
NM_015450.3(POT1):c.1164-25A>G
|
|
|
NM_015450.3(POT1):c.1164-29T>A
|
|
|
NM_015450.3(POT1):c.1211G>T (p.Gly404Val)
|
rs35536751
|
|
NM_015450.3(POT1):c.1327G>A (p.Gly443Ser)
|
|
|
NM_015450.3(POT1):c.1369+28A>G
|
|
|
NM_015450.3(POT1):c.1370-30A>T
|
|
|
NM_015450.3(POT1):c.1434T>C (p.Ser478=)
|
rs1562977862
|
|
NM_015450.3(POT1):c.1505+36dup
|
rs369649621
|
|
NM_015450.3(POT1):c.1505+7TGTTT[4]
|
|
|
NM_015450.3(POT1):c.1505+7TGTTT[5]
|
rs66826272
|
|
NM_015450.3(POT1):c.1505+7TGTTT[8]
|
|
|
NM_015450.3(POT1):c.1505+8G>A
|
rs1364537881
|
|
NM_015450.3(POT1):c.1506-35T>A
|
|
|
NM_015450.3(POT1):c.1594+28T>G
|
|
|
NM_015450.3(POT1):c.1595-33C>A
|
|
|
NM_015450.3(POT1):c.1623_1624del (p.Phe542fs)
|
|
|
NM_015450.3(POT1):c.1656A>C (p.Thr552=)
|
rs2116414814
|
|
NM_015450.3(POT1):c.1687-22del
|
|
|
NM_015450.3(POT1):c.1687-27T>G
|
|
|
NM_015450.3(POT1):c.1687-33del
|
|
|
NM_015450.3(POT1):c.1687-43T>G
|
|
|
NM_015450.3(POT1):c.1741A>G (p.Lys581Glu)
|
rs1327511983
|
|
NM_015450.3(POT1):c.1792+19A>G
|
|
|
NM_015450.3(POT1):c.1792+30C>T
|
|
|
NM_015450.3(POT1):c.1792+40T>C
|
|
|
NM_015450.3(POT1):c.1792+44G>T
|
|
|
NM_015450.3(POT1):c.20C>A (p.Thr7Lys)
|
|
|
NM_015450.3(POT1):c.255+48_255+49del
|
|
|
NM_015450.3(POT1):c.255G>C (p.Lys85Asn)
|
rs747851551
|
|
NM_015450.3(POT1):c.256-36T>C
|
|
|
NM_015450.3(POT1):c.256-37_256-34del
|
|
|
NM_015450.3(POT1):c.322G>A (p.Gly108Arg)
|
|
|
NM_015450.3(POT1):c.32A>G (p.Tyr11Cys)
|
|
|
NM_015450.3(POT1):c.546+27A>G
|
|
|
NM_015450.3(POT1):c.546+44A>C
|
rs1490957374
|
|
NM_015450.3(POT1):c.547-38C>T
|
|
|
NM_015450.3(POT1):c.547-46C>A
|
|
|
NM_015450.3(POT1):c.566C>T (p.Thr189Ile)
|
rs1795518878
|
|
NM_015450.3(POT1):c.702+12T>A
|
|
|
NM_015450.3(POT1):c.707del (p.Gly236fs)
|
rs2116505374
|
|
NM_015450.3(POT1):c.709del (p.Ser237fs)
|
rs2116505365
|
|
NM_015450.3(POT1):c.711C>T (p.Ser237=)
|
rs1455456209
|
|
NM_015450.3(POT1):c.771A>G (p.Thr257=)
|
|
|
NM_015450.3(POT1):c.836C>T (p.Pro279Leu)
|
rs2116504451
|
|
NM_015450.3(POT1):c.869+47C>T
|
|
|
NM_015450.3(POT1):c.869+48G>A
|
|
|
NM_015450.3(POT1):c.870-21del
|
|
|
NM_015450.3(POT1):c.9+47A>G
|
|
|
NM_015450.3(POT1):c.950-18G>A
|
|
|
NM_015506.3(MMACHC):c.338C>G (p.Pro113Arg)
|
|
|
NM_015599.3(PGM3):c.-2-185C>T
|
rs565900346
|
|
NM_016169.4(SUFU):c.-2C>T
|
|
|
NM_016169.4(SUFU):c.-48C>G
|
|
|
NM_016169.4(SUFU):c.1022+38C>T
|
|
|
NM_016169.4(SUFU):c.1023-28C>T
|
|
|
NM_016169.4(SUFU):c.1157+23A>G
|
|
|
NM_016169.4(SUFU):c.11T>G (p.Leu4Arg)
|
|
|
NM_016169.4(SUFU):c.454+45G>T
|
|
|
NM_016169.4(SUFU):c.597+32T>A
|
|
|
NM_016169.4(SUFU):c.598-22G>A
|
|
|
NM_016169.4(SUFU):c.683+13G>A
|
|
|
NM_016169.4(SUFU):c.683+33C>T
|
|
|
NM_016169.4(SUFU):c.684-33A>G
|
|
|
NM_016169.4(SUFU):c.756+10G>T
|
|
|
NM_016169.4(SUFU):c.757-27_757-26delinsCT
|
|
|
NM_016169.4(SUFU):c.881dup (p.Thr295fs)
|
|
|
NM_016169.4(SUFU):c.946C>T (p.Leu316Phe)
|
rs1554853004
|
|
NM_016222.4(DDX41):c.1022T>C (p.Leu341Pro)
|
|
|
NM_016519.6(AMBN):c.295-2A>C
|
|
|
NM_016519.6(AMBN):c.571-1G>C
|
|
|
NM_017415.3(KLHL3):c.1079G>A (p.Arg360Gln)
|
rs1561586322
|
|
NM_017449.5(EPHB2):c.1150C>T (p.Arg384Cys)
|
|
|
NM_017449.5(EPHB2):c.2191G>A (p.Ala731Thr)
|
|
|
NM_017514.5(PLXNA3):c.4078G>A (p.Asp1360Asn)
|
|
|
NM_017679.5(BCAS3):c.1826A>G (p.Glu609Gly)
|
|
|
NM_017679.5(BCAS3):c.2425G>T (p.Gly809Cys)
|
|
|
NM_017763.6(RNF43):c.-10A>G
|
|
|
NM_017763.6(RNF43):c.1009C>T (p.Arg337Ter)
|
|
|
NM_017763.6(RNF43):c.104C>T (p.Ala35Val)
|
|
|
NM_017763.6(RNF43):c.1103G>A (p.Arg368Gln)
|
|
|
NM_017763.6(RNF43):c.1111C>G (p.Arg371Gly)
|
|
|
NM_017763.6(RNF43):c.1168T>A (p.Phe390Ile)
|
|
|
NM_017763.6(RNF43):c.1311G>C (p.Arg437=)
|
rs1972751675
|
|
NM_017763.6(RNF43):c.1586G>A (p.Arg529Gln)
|
rs753874515
|
|
NM_017763.6(RNF43):c.1621_1632delinsCACCAGGTTTCCAGCCATGTCCACTACCATG (p.Glu541fs)
|
|
|
NM_017763.6(RNF43):c.172A>G (p.Thr58Ala)
|
rs142864107
|
|
NM_017763.6(RNF43):c.1801T>C (p.Ser601Pro)
|
rs751001722
|
|
NM_017763.6(RNF43):c.1880T>C (p.Val627Ala)
|
rs199831923
|
|
NM_017763.6(RNF43):c.1970G>C (p.Arg657Pro)
|
rs142097313
|
|
NM_017763.6(RNF43):c.1976dup (p.Pro660fs)
|
rs755128667
|
|
NM_017763.6(RNF43):c.2009A>G (p.Gln670Arg)
|
rs1972721806
|
|
NM_017763.6(RNF43):c.2034C>T (p.Cys678=)
|
|
|
NM_017763.6(RNF43):c.2082A>G (p.Pro694=)
|
rs2143390844
|
|
NM_017763.6(RNF43):c.2129T>A (p.Leu710Gln)
|
|
|
NM_017763.6(RNF43):c.2195G>A (p.Arg732His)
|
|
|
NM_017763.6(RNF43):c.2227G>A (p.Gly743Arg)
|
|
|
NM_017763.6(RNF43):c.2267C>G (p.Pro756Arg)
|
rs757324156
|
|
NM_017763.6(RNF43):c.2286C>G (p.Cys762Trp)
|
rs564215300
|
|
NM_017763.6(RNF43):c.2298G>A (p.Ser766=)
|
|
|
NM_017763.6(RNF43):c.2309-15G>A
|
rs2158460
|
|
NM_017763.6(RNF43):c.252+49C>T
|
|
|
NM_017763.6(RNF43):c.252+50T>C
|
|
|
NM_017763.6(RNF43):c.301C>T (p.Pro101Ser)
|
rs773179126
|
|
NM_017763.6(RNF43):c.33C>G (p.Ala11=)
|
|
|
NM_017763.6(RNF43):c.341G>T (p.Arg114Leu)
|
|
|
NM_017763.6(RNF43):c.375+21A>T
|
|
|
NM_017763.6(RNF43):c.375+44G>A
|
|
|
NM_017763.6(RNF43):c.376-14G>C
|
|
|
NM_017763.6(RNF43):c.395G>A (p.Arg132Gln)
|
rs758854182
|
|
NM_017763.6(RNF43):c.450+19G>A
|
rs143954546
|
|
NM_017763.6(RNF43):c.450+21G>T
|
|
|
NM_017763.6(RNF43):c.450+30G>T
|
|
|
NM_017763.6(RNF43):c.450+46A>G
|
rs1567876969
|
|
NM_017763.6(RNF43):c.451-45del
|
|
|
NM_017763.6(RNF43):c.549T>C (p.His183=)
|
|
|
NM_017763.6(RNF43):c.576G>A (p.Pro192=)
|
rs76384648
|
|
NM_017763.6(RNF43):c.576G>C (p.Pro192=)
|
rs76384648
|
|
NM_017763.6(RNF43):c.582+46T>G
|
|
|
NM_017763.6(RNF43):c.583-13G>C
|
|
|
NM_017763.6(RNF43):c.583-37G>C
|
rs201082136
|
|
NM_017763.6(RNF43):c.583-38C>T
|
|
|
NM_017763.6(RNF43):c.583-45C>T
|
|
|
NM_017763.6(RNF43):c.687+24G>A
|
|
|
NM_017763.6(RNF43):c.687+40G>A
|
|
|
NM_017763.6(RNF43):c.783C>G (p.Asp261Glu)
|
|
|
NM_017763.6(RNF43):c.850-15C>T
|
|
|
NM_017763.6(RNF43):c.952+37A>G
|
|
|
NM_017763.6(RNF43):c.952+3_952+9del
|
|
|
NM_017763.6(RNF43):c.953-14G>C
|
|
|
NM_017763.6(RNF43):c.953-34_953-30dup
|
rs748868010
|
|
NM_017780.4(CHD7):c.5405-7G>A
|
rs398124321
|
|
NM_017841.4(SDHAF2):c.370+22A>G
|
|
|
NM_017849.4(TMEM127):c.107C>T (p.Pro36Leu)
|
|
|
NM_018062.4(FANCL):c.274-2A>G
|
|
|
NM_018668.5(VPS33B):c.1405G>C (p.Gly469Arg)
|
|
|
NM_018975.4(TERF2IP):c.*49A>C
|
|
|
NM_018975.4(TERF2IP):c.-1C>T
|
|
|
NM_018975.4(TERF2IP):c.-25C>T
|
rs2233810
|
|
NM_018975.4(TERF2IP):c.-35G>A
|
|
|
NM_018975.4(TERF2IP):c.1022G>A (p.Gly341Asp)
|
|
|
NM_018975.4(TERF2IP):c.1053G>A (p.Ala351=)
|
|
|
NM_018975.4(TERF2IP):c.1115A>G (p.Lys372Arg)
|
|
|
NM_018975.4(TERF2IP):c.1134A>C (p.Arg378Ser)
|
|
|
NM_018975.4(TERF2IP):c.1141T>C (p.Leu381=)
|
|
|
NM_018975.4(TERF2IP):c.15G>A (p.Met5Ile)
|
|
|
NM_018975.4(TERF2IP):c.177C>T (p.Pro59=)
|
rs747932710
|
|
NM_018975.4(TERF2IP):c.193G>A (p.Ala65Thr)
|
|
|
NM_018975.4(TERF2IP):c.197A>G (p.Gln66Arg)
|
|
|
NM_018975.4(TERF2IP):c.22G>T (p.Gly8Cys)
|
|
|
NM_018975.4(TERF2IP):c.256G>T (p.Asp86Tyr)
|
|
|
NM_018975.4(TERF2IP):c.294C>G (p.Ala98=)
|
|
|
NM_018975.4(TERF2IP):c.307C>T (p.Pro103Ser)
|
|
|
NM_018975.4(TERF2IP):c.33C>T (p.Pro11=)
|
|
|
NM_018975.4(TERF2IP):c.363C>G (p.Gly121=)
|
|
|
NM_018975.4(TERF2IP):c.395G>T (p.Gly132Val)
|
|
|
NM_018975.4(TERF2IP):c.398G>A (p.Arg133Gln)
|
|
|
NM_018975.4(TERF2IP):c.421G>A (p.Asp141Asn)
|
|
|
NM_018975.4(TERF2IP):c.423C>T (p.Asp141=)
|
|
|
NM_018975.4(TERF2IP):c.429C>T (p.Ala143=)
|
|
|
NM_018975.4(TERF2IP):c.450A>G (p.Glu150=)
|
|
|
NM_018975.4(TERF2IP):c.462G>A (p.Ser154=)
|
rs773739358
|
|
NM_018975.4(TERF2IP):c.572A>G (p.Gln191Arg)
|
|
|
NM_018975.4(TERF2IP):c.586C>T (p.Leu196=)
|
|
|
NM_018975.4(TERF2IP):c.638C>T (p.Ala213Val)
|
|
|
NM_018975.4(TERF2IP):c.670+16G>T
|
|
|
NM_018975.4(TERF2IP):c.670+1G>A
|
rs985541014
|
|
NM_018975.4(TERF2IP):c.670+25C>A
|
|
|
NM_018975.4(TERF2IP):c.795+19C>A
|
rs72561501
|
|
NM_018975.4(TERF2IP):c.795+50T>C
|
|
|
NM_018975.4(TERF2IP):c.816T>C (p.Asp272=)
|
|
|
NM_018975.4(TERF2IP):c.85A>T (p.Met29Leu)
|
|
|
NM_018975.4(TERF2IP):c.915A>C (p.Lys305Asn)
|
|
|
NM_018979.4(WNK1):c.3530T>G (p.Phe1177Cys)
|
rs1953359993
|
|
NM_019616.4(F7):c.821C>T (p.Pro274Leu)
|
|
|
NM_020134.4(DPYSL5):c.864G>A (p.Trp288Ter)
|
|
|
NM_020461.4(TUBGCP6):c.5350T>C (p.Ser1784Pro)
|
|
|
NM_020661.4(AICDA):c.218G>A (p.Gly73Asp)
|
|
|
NM_020822.3(KCNT1):c.2061_2066del (p.Gly691_Gly692del)
|
rs754629346
|
|
NM_020832.3(ZNF687):c.2810C>G (p.Pro937Arg)
|
rs148402804
|
|
NM_020975.6(RET):c.-30C>T
|
|
|
NM_020975.6(RET):c.1064-22A>G
|
|
|
NM_020975.6(RET):c.1146G>A (p.Gln382=)
|
rs770637118
|
|
NM_020975.6(RET):c.1264-43C>T
|
|
|
NM_020975.6(RET):c.1363G>T (p.Val455Phe)
|
|
|
NM_020975.6(RET):c.1522+20A>T
|
|
|
NM_020975.6(RET):c.1832G>A (p.Cys611Tyr)
|
rs377767397
|
|
NM_020975.6(RET):c.1853G>A (p.Cys618Tyr)
|
rs79781594
|
|
NM_020975.6(RET):c.1853G>C (p.Cys618Ser)
|
rs79781594
|
|
NM_020975.6(RET):c.1858T>C (p.Cys620Arg)
|
rs77316810
|
|
NM_020975.6(RET):c.1859G>T (p.Cys620Phe)
|
rs77503355
|
|
NM_020975.6(RET):c.2342A>G (p.Gln781Arg)
|
rs377767416
|
|
NM_020975.6(RET):c.2393-29C>T
|
|
|
NM_020975.6(RET):c.2451C>T (p.Arg817=)
|
rs747894751
|
|
NM_020975.6(RET):c.2752A>G (p.Met918Val)
|
rs377767442
|
|
NM_020975.6(RET):c.2753T>C (p.Met918Thr)
|
rs74799832
|
|
NM_020975.6(RET):c.2802-22C>T
|
|
|
NM_020975.6(RET):c.3126C>G (p.Asp1042Glu)
|
rs1554820168
|
|
NM_020975.6(RET):c.3170T>C (p.Ile1057Thr)
|
rs758877145
|
|
NM_020975.6(RET):c.337+20A>C
|
|
|
NM_020975.6(RET):c.337+24A>C
|
rs1364998745
|
|
NM_020975.6(RET):c.478C>T (p.Leu160Phe)
|
rs747536732
|
|
NM_020975.6(RET):c.5_28dup (p.Ala9_Gly10insAlaLysAlaThrSerGlyAlaAla)
|
rs1837063549
|
|
NM_020975.6(RET):c.626-21C>T
|
|
|
NM_020975.6(RET):c.626-45T>A
|
|
|
NM_020975.6(RET):c.868-39A>G
|
|
|
NM_021098.3(CACNA1H):c.2360G>A (p.Arg787His)
|
|
|
NM_021135.6(RPS6KA2):c.2076+1G>C
|
|
|
NM_021175.4(HAMP):c.150+7G>C
|
rs201587159
|
|
NM_021175.4(HAMP):c.2T>C (p.Met1Thr)
|
|
|
NM_021975.4(RELA):c.29del (p.Pro10fs)
|
|
|
NM_021975.4(RELA):c.4G>T (p.Asp2Tyr)
|
|
|
NM_022051.3(EGLN1):c.1111C>T (p.Arg371Cys)
|
|
|
NM_022051.3(EGLN1):c.77A>C (p.Lys26Thr)
|
|
|
NM_022455.5(NSD1):c.514C>T (p.Gln172Ter)
|
|
|
NM_023110.3(FGFR1):c.1231C>A (p.Gln411Lys)
|
rs1817962450
|
|
NM_024420.3(PLA2G4A):c.1598G>A (p.Arg533Gln)
|
|
|
NM_024426.6(WT1):c.1303C>T (p.Arg435Ter)
|
rs121907906
|
|
NM_024426.6(WT1):c.1354+9G>A
|
rs765187288
|
|
NM_024426.6(WT1):c.634G>T (p.Glu212Ter)
|
|
|
NM_024529.5(CDC73):c.-29C>T
|
|
|
NM_024529.5(CDC73):c.-4dup
|
rs545666726
|
|
NM_024529.5(CDC73):c.1030+44G>A
|
rs74920792
|
|
NM_024529.5(CDC73):c.1141C>T (p.Leu381=)
|
|
|
NM_024529.5(CDC73):c.1560-37C>G
|
|
|
NM_024529.5(CDC73):c.237+29_237+32del
|
rs80356645
|
|
NM_024529.5(CDC73):c.238-31T>A
|
|
|
NM_024529.5(CDC73):c.307+42G>A
|
|
|
NM_024529.5(CDC73):c.424-28A>G
|
|
|
NM_024529.5(CDC73):c.512+35T>C
|
|
|
NM_024529.5(CDC73):c.729+33GA[10]
|
|
|
NM_024529.5(CDC73):c.729+33GA[8]
|
rs80356646
|
|
NM_024529.5(CDC73):c.761A>G (p.Gln254Arg)
|
rs2103130545
|
|
NM_024529.5(CDC73):c.804A>G (p.Arg268=)
|
rs2103130595
|
|
NM_024529.5(CDC73):c.908-21_908-19del
|
|
|
NM_024570.4(RNASEH2B):c.322-3C>G
|
|
|
NM_024642.5(GALNT12):c.171_184del (p.Pro58fs)
|
rs1237409974
|
|
NM_024675.4(PALB2):c.-45C>G
|
rs556490497
|
|
NM_024675.4(PALB2):c.1050_1053del (p.Thr351fs)
|
rs515726060
|
|
NM_024675.4(PALB2):c.1056_1057del (p.Lys353fs)
|
rs180177099
|
|
NM_024675.4(PALB2):c.108+21A>G
|
|
|
NM_024675.4(PALB2):c.1170T>A (p.Ser390=)
|
rs1597096863
|
|
NM_024675.4(PALB2):c.1176A>G (p.Glu392=)
|
rs1555461423
|
|
NM_024675.4(PALB2):c.1270G>A (p.Ala424Thr)
|
|
|
NM_024675.4(PALB2):c.1454_1457del (p.Thr485fs)
|
|
|
NM_024675.4(PALB2):c.1466C>T (p.Ser489Phe)
|
rs1597095944
|
|
NM_024675.4(PALB2):c.1476G>T (p.Gly492=)
|
rs1555461264
|
|
NM_024675.4(PALB2):c.1603A>G (p.Ser535Gly)
|
|
|
NM_024675.4(PALB2):c.1614T>C (p.Ile538=)
|
rs1060504713
|
|
NM_024675.4(PALB2):c.163C>A (p.Gln55Lys)
|
rs1064793772
|
|
NM_024675.4(PALB2):c.1660_1666del (p.Glu554fs)
|
|
|
NM_024675.4(PALB2):c.1684+18TGA[7]
|
rs368593832
|
|
NM_024675.4(PALB2):c.1684+18TGA[9]
|
rs368593832
|
|
NM_024675.4(PALB2):c.1685-18C>T
|
|
|
NM_024675.4(PALB2):c.1685-29C>T
|
|
|
NM_024675.4(PALB2):c.1685-50_1685-47del
|
rs775516114
|
|
NM_024675.4(PALB2):c.1694G>T (p.Ser565Ile)
|
rs876659914
|
|
NM_024675.4(PALB2):c.1724G>A (p.Trp575Ter)
|
rs730881876
|
|
NM_024675.4(PALB2):c.1748T>C (p.Leu583Ser)
|
rs587782151
|
|
NM_024675.4(PALB2):c.1773A>G (p.Pro591=)
|
rs1597091237
|
|
NM_024675.4(PALB2):c.1872T>C (p.Leu624=)
|
rs758409916
|
|
NM_024675.4(PALB2):c.18G>T (p.Gly6=)
|
rs587782462
|
|
NM_024675.4(PALB2):c.1919C>A (p.Ser640Ter)
|
rs760094988
|
|
NM_024675.4(PALB2):c.1965T>A (p.Phe655Leu)
|
|
|
NM_024675.4(PALB2):c.1988dup (p.Met664fs)
|
rs1966862297
|
|
NM_024675.4(PALB2):c.2020G>T (p.Asp674Tyr)
|
rs730881885
|
|
NM_024675.4(PALB2):c.2043A>G (p.Lys681=)
|
rs1057524569
|
|
NM_024675.4(PALB2):c.211+1G>T
|
rs1555462026
|
|
NM_024675.4(PALB2):c.211+5del
|
rs752833998
|
|
NM_024675.4(PALB2):c.2113T>C (p.Tyr705His)
|
rs2142380766
|
|
NM_024675.4(PALB2):c.212-25T>G
|
|
|
NM_024675.4(PALB2):c.2155C>T (p.Pro719Ser)
|
rs2142379642
|
|
NM_024675.4(PALB2):c.2188A>G (p.Ile730Val)
|
rs1060502735
|
|
NM_024675.4(PALB2):c.228_229del (p.Ile76fs)
|
rs1555461870
|
|
NM_024675.4(PALB2):c.2325A>C (p.Gln775His)
|
rs750089867
|
|
NM_024675.4(PALB2):c.2464C>T (p.Gln822Ter)
|
rs1555460323
|
|
NM_024675.4(PALB2):c.2469C>G (p.Leu823=)
|
rs515726087
|
|
NM_024675.4(PALB2):c.2508C>T (p.Val836=)
|
rs786203603
|
|
NM_024675.4(PALB2):c.2535T>C (p.Pro845=)
|
rs1567216906
|
|
NM_024675.4(PALB2):c.2586+1G>A
|
|
|
NM_024675.4(PALB2):c.2586+21C>T
|
|
|
NM_024675.4(PALB2):c.2586+27C>T
|
|
|
NM_024675.4(PALB2):c.2586+40T>C
|
|
|
NM_024675.4(PALB2):c.2587-24A>C
|
|
|
NM_024675.4(PALB2):c.2587-29C>T
|
|
|
NM_024675.4(PALB2):c.2587-38dup
|
|
|
NM_024675.4(PALB2):c.2587-47A>G
|
rs2142357318
|
|
NM_024675.4(PALB2):c.2587-48A>C
|
rs1260047262
|
|
NM_024675.4(PALB2):c.2607C>T (p.Ser869=)
|
rs45542234
|
|
NM_024675.4(PALB2):c.2613T>A (p.Asp871Glu)
|
rs1555460011
|
|
NM_024675.4(PALB2):c.2718G>A (p.Trp906Ter)
|
rs180177122
|
|
NM_024675.4(PALB2):c.2719del (p.Glu907fs)
|
rs1555459934
|
|
NM_024675.4(PALB2):c.2734T>G (p.Trp912Gly)
|
|
|
NM_024675.4(PALB2):c.2736G>A (p.Trp912Ter)
|
rs1555459925
|
|
NM_024675.4(PALB2):c.2748+1G>T
|
rs753153576
|
|
NM_024675.4(PALB2):c.2767G>A (p.Val923Ile)
|
|
|
NM_024675.4(PALB2):c.2834+16G>T
|
|
|
NM_024675.4(PALB2):c.2834+28T>C
|
|
|
NM_024675.4(PALB2):c.2835-3T>C
|
rs1060502795
|
|
NM_024675.4(PALB2):c.2849C>T (p.Ser950Phe)
|
rs876659160
|
|
NM_024675.4(PALB2):c.2889_2890del (p.Gly964fs)
|
|
|
NM_024675.4(PALB2):c.2997-18A>T
|
|
|
NM_024675.4(PALB2):c.2997-44G>A
|
|
|
NM_024675.4(PALB2):c.3054G>T (p.Glu1018Asp)
|
rs183489969
|
|
NM_024675.4(PALB2):c.3113+5G>A
|
rs876659463
|
|
NM_024675.4(PALB2):c.3201+36A>G
|
|
|
NM_024675.4(PALB2):c.3202-13T>C
|
|
|
NM_024675.4(PALB2):c.3202-1G>A
|
rs515726111
|
|
NM_024675.4(PALB2):c.3202-20T>C
|
|
|
NM_024675.4(PALB2):c.3202-34T>C
|
|
|
NM_024675.4(PALB2):c.3256C>G (p.Arg1086Gly)
|
rs587776527
|
|
NM_024675.4(PALB2):c.3285T>A (p.Ile1095=)
|
|
|
NM_024675.4(PALB2):c.3287A>C (p.Asn1096Thr)
|
|
|
NM_024675.4(PALB2):c.3293A>C (p.Lys1098Thr)
|
|
|
NM_024675.4(PALB2):c.3296C>T (p.Thr1099Met)
|
rs142132127
|
|
NM_024675.4(PALB2):c.3306C>G (p.Ser1102Arg)
|
rs515726112
|
|
NM_024675.4(PALB2):c.3307G>A (p.Val1103Met)
|
rs201657283
|
|
NM_024675.4(PALB2):c.3332C>T (p.Pro1111Leu)
|
rs772480747
|
|
NM_024675.4(PALB2):c.3346G>A (p.Gly1116Ser)
|
|
|
NM_024675.4(PALB2):c.3350+39C>G
|
rs568248665
|
|
NM_024675.4(PALB2):c.3438G>A (p.Gln1146=)
|
|
|
NM_024675.4(PALB2):c.3458C>T (p.Pro1153Leu)
|
rs1567205039
|
|
NM_024675.4(PALB2):c.3475T>C (p.Trp1159Arg)
|
rs876660792
|
|
NM_024675.4(PALB2):c.48+26C>A
|
|
|
NM_024675.4(PALB2):c.48+29A>G
|
|
|
NM_024675.4(PALB2):c.509_510del (p.Arg170fs)
|
rs515726123
|
|
NM_024675.4(PALB2):c.52A>G (p.Lys18Glu)
|
|
|
NM_024675.4(PALB2):c.535C>G (p.Gln179Glu)
|
rs730881903
|
|
NM_024675.4(PALB2):c.557A>T (p.Asn186Ile)
|
rs587782164
|
|
NM_024675.4(PALB2):c.577A>G (p.Thr193Ala)
|
rs1967037000
|
|
NM_024675.4(PALB2):c.632A>G (p.Glu211Gly)
|
rs180177089
|
|
NM_024675.4(PALB2):c.709C>G (p.Leu237Val)
|
rs1064794118
|
|
NM_024675.4(PALB2):c.737C>T (p.Thr246Ile)
|
rs1597098443
|
|
NM_024675.4(PALB2):c.740C>T (p.Thr247Ile)
|
rs587782658
|
|
NM_024675.4(PALB2):c.766A>G (p.Ser256Gly)
|
rs1967022496
|
|
NM_024675.4(PALB2):c.792C>T (p.His264=)
|
rs1310569612
|
|
NM_024675.4(PALB2):c.87C>G (p.Ser29Arg)
|
rs2142460349
|
|
NM_024675.4(PALB2):c.906C>G (p.Asn302Lys)
|
|
|
NM_024675.4(PALB2):c.93dup (p.Leu32fs)
|
rs864622498
|
|
NM_024675.4(PALB2):c.95T>C (p.Leu32Pro)
|
rs1967110180
|
|
NM_025077.4(TOE1):c.19G>A (p.Asp7Asn)
|
|
|
NM_030773.4(TUBB1):c.49G>A (p.Gly17Arg)
|
|
|
NM_030773.4(TUBB1):c.754A>G (p.Lys252Glu)
|
|
|
NM_030787.4(CFHR5):c.485_486dup (p.Glu163fs)
|
rs565457964
|
|
NM_032043.3(BRIP1):c.1093A>G (p.Ile365Val)
|
rs749251680
|
|
NM_032043.3(BRIP1):c.1141-21G>T
|
|
|
NM_032043.3(BRIP1):c.1141-45T>G
|
|
|
NM_032043.3(BRIP1):c.1207C>G (p.Arg403Gly)
|
rs369631413
|
|
NM_032043.3(BRIP1):c.1271G>A (p.Ser424Asn)
|
rs1354610577
|
|
NM_032043.3(BRIP1):c.1340+42A>G
|
|
|
NM_032043.3(BRIP1):c.1341-8_1341-4del
|
rs1555605965
|
|
NM_032043.3(BRIP1):c.1401A>G (p.Ile467Met)
|
rs764979728
|
|
NM_032043.3(BRIP1):c.1473+27C>G
|
|
|
NM_032043.3(BRIP1):c.1537G>C (p.Ala513Pro)
|
|
|
NM_032043.3(BRIP1):c.1547T>A (p.Val516Glu)
|
rs2077670264
|
|
NM_032043.3(BRIP1):c.1582A>G (p.Lys528Glu)
|
rs748962730
|
|
NM_032043.3(BRIP1):c.1628+24A>G
|
|
|
NM_032043.3(BRIP1):c.1628+46A>C
|
|
|
NM_032043.3(BRIP1):c.1628+50T>G
|
|
|
NM_032043.3(BRIP1):c.1683_1684del (p.Gln561fs)
|
rs2077610620
|
|
NM_032043.3(BRIP1):c.1687_1689del (p.Asp563del)
|
rs780590493
|
|
NM_032043.3(BRIP1):c.1695del (p.Asp566fs)
|
rs2145094895
|
|
NM_032043.3(BRIP1):c.1767A>G (p.Leu589=)
|
rs1057523711
|
|
NM_032043.3(BRIP1):c.1795-20C>A
|
rs750994596
|
|
NM_032043.3(BRIP1):c.1795-42T>C
|
|
|
NM_032043.3(BRIP1):c.183A>T (p.Leu61Phe)
|
rs1555618384
|
|
NM_032043.3(BRIP1):c.1897A>C (p.Ile633Leu)
|
rs765314472
|
|
NM_032043.3(BRIP1):c.1935+22del
|
|
|
NM_032043.3(BRIP1):c.1935+22dup
|
rs74268880
|
|
NM_032043.3(BRIP1):c.1935+49A>G
|
|
|
NM_032043.3(BRIP1):c.1935+5GTT[2]
|
rs730881641
|
|
NM_032043.3(BRIP1):c.1936-43C>T
|
|
|
NM_032043.3(BRIP1):c.1936-49C>G
|
|
|
NM_032043.3(BRIP1):c.1973G>A (p.Arg658Gln)
|
rs759142191
|
|
NM_032043.3(BRIP1):c.1987A>G (p.Thr663Ala)
|
rs1567808933
|
|
NM_032043.3(BRIP1):c.2009T>C (p.Phe670Ser)
|
rs1555601107
|
|
NM_032043.3(BRIP1):c.205+34C>T
|
rs1381067878
|
|
NM_032043.3(BRIP1):c.2097+1G>C
|
rs786202941
|
|
NM_032043.3(BRIP1):c.2097+26del
|
rs4988353
|
|
NM_032043.3(BRIP1):c.2097+28C>A
|
|
|
NM_032043.3(BRIP1):c.2098-32C>T
|
|
|
NM_032043.3(BRIP1):c.2243A>G (p.Tyr748Cys)
|
rs2144695357
|
|
NM_032043.3(BRIP1):c.2244C>G (p.Tyr748Ter)
|
rs1257401983
|
|
NM_032043.3(BRIP1):c.2257+24C>T
|
|
|
NM_032043.3(BRIP1):c.2257+26G>T
|
|
|
NM_032043.3(BRIP1):c.2258-1G>T
|
rs1064793887
|
|
NM_032043.3(BRIP1):c.2258-43C>T
|
|
|
NM_032043.3(BRIP1):c.2290A>G (p.Lys764Glu)
|
rs1603303860
|
|
NM_032043.3(BRIP1):c.2325T>G (p.Asn775Lys)
|
rs375146450
|
|
NM_032043.3(BRIP1):c.2329C>T (p.Arg777Cys)
|
rs768555161
|
|
NM_032043.3(BRIP1):c.2379+26A>G
|
|
|
NM_032043.3(BRIP1):c.2379+38G>A
|
|
|
NM_032043.3(BRIP1):c.2380-4T>C
|
rs2144384520
|
|
NM_032043.3(BRIP1):c.2398T>C (p.Tyr800His)
|
rs1305107535
|
|
NM_032043.3(BRIP1):c.2400C>G (p.Tyr800Ter)
|
rs574552037
|
|
NM_032043.3(BRIP1):c.2400C>T (p.Tyr800=)
|
rs574552037
|
|
NM_032043.3(BRIP1):c.2493-10T>A
|
rs776255327
|
|
NM_032043.3(BRIP1):c.2493-27A>G
|
|
|
NM_032043.3(BRIP1):c.2493-46T>G
|
|
|
NM_032043.3(BRIP1):c.2576-37G>A
|
|
|
NM_032043.3(BRIP1):c.258_269del (p.Cys87_Cys90del)
|
rs730881648
|
|
NM_032043.3(BRIP1):c.2741T>C (p.Leu914Ser)
|
rs886053215
|
|
NM_032043.3(BRIP1):c.2872C>T (p.Leu958=)
|
rs1555573260
|
|
NM_032043.3(BRIP1):c.28A>C (p.Ile10Leu)
|
|
|
NM_032043.3(BRIP1):c.2905+29G>C
|
|
|
NM_032043.3(BRIP1):c.2905+2T>A
|
|
|
NM_032043.3(BRIP1):c.2906-31A>G
|
|
|
NM_032043.3(BRIP1):c.2921T>G (p.Leu974Arg)
|
|
|
NM_032043.3(BRIP1):c.2932G>C (p.Gly978Arg)
|
rs2061326304
|
|
NM_032043.3(BRIP1):c.2947del (p.Ile983fs)
|
rs774684620
|
|
NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs)
|
rs771028677
|
|
NM_032043.3(BRIP1):c.3020C>A (p.Ser1007Tyr)
|
rs886053214
|
|
NM_032043.3(BRIP1):c.3025G>A (p.Gly1009Arg)
|
rs587781328
|
|
NM_032043.3(BRIP1):c.3044A>G (p.Lys1015Arg)
|
rs1006002613
|
|
NM_032043.3(BRIP1):c.3342G>C (p.Gln1114His)
|
rs2144079516
|
|
NM_032043.3(BRIP1):c.3371A>G (p.Glu1124Gly)
|
rs1064793894
|
|
NM_032043.3(BRIP1):c.3374_3376del (p.Ala1125del)
|
rs745344948
|
|
NM_032043.3(BRIP1):c.3386C>T (p.Ser1129Phe)
|
|
|
NM_032043.3(BRIP1):c.3449C>G (p.Ala1150Gly)
|
rs1064796059
|
|
NM_032043.3(BRIP1):c.3651G>T (p.Trp1217Cys)
|
rs542698396
|
|
NM_032043.3(BRIP1):c.3687A>G (p.Ile1229Met)
|
|
|
NM_032043.3(BRIP1):c.3691A>G (p.Ile1231Val)
|
rs876659290
|
|
NM_032043.3(BRIP1):c.3707C>T (p.Pro1236Leu)
|
rs1265133595
|
|
NM_032043.3(BRIP1):c.380-17dup
|
rs545021924
|
|
NM_032043.3(BRIP1):c.380-28G>A
|
rs4988343
|
|
NM_032043.3(BRIP1):c.419C>T (p.Ala140Val)
|
|
|
NM_032043.3(BRIP1):c.463C>T (p.Gln155Ter)
|
rs587781786
|
|
NM_032043.3(BRIP1):c.507+37G>C
|
rs375130843
|
|
NM_032043.3(BRIP1):c.507+50A>G
|
|
|
NM_032043.3(BRIP1):c.508-28A>G
|
|
|
NM_032043.3(BRIP1):c.591T>G (p.Ser197=)
|
|
|
NM_032043.3(BRIP1):c.618G>A (p.Ser206=)
|
rs367614726
|
|
NM_032043.3(BRIP1):c.621A>G (p.Pro207=)
|
|
|
NM_032043.3(BRIP1):c.626A>G (p.Lys209Arg)
|
rs748912293
|
|
NM_032043.3(BRIP1):c.627+43T>C
|
|
|
NM_032043.3(BRIP1):c.644C>A (p.Ser215Tyr)
|
rs12947398
|
|
NM_032043.3(BRIP1):c.644C>T (p.Ser215Phe)
|
rs12947398
|
|
NM_032043.3(BRIP1):c.67C>G (p.Pro23Ala)
|
rs1603368425
|
|
NM_032043.3(BRIP1):c.758A>G (p.His253Arg)
|
rs2078112284
|
|
NM_032043.3(BRIP1):c.76C>G (p.Leu26Val)
|
|
|
NM_032043.3(BRIP1):c.864A>G (p.Val288=)
|
rs748545827
|
|
NM_032043.3(BRIP1):c.903G>A (p.Leu301=)
|
rs876660578
|
|
NM_032043.3(BRIP1):c.918+9A>G
|
rs2145410020
|
|
NM_032043.3(BRIP1):c.93+18G>A
|
|
|
NM_032043.3(BRIP1):c.993G>A (p.Met331Ile)
|
rs587780252
|
|
NM_032263.5(IQCG):c.-60+5377C>G
|
|
|
NM_033022.4(RPS24):c.46C>T (p.Arg16Ter)
|
rs104894189
|
|
NM_033022.4(RPS24):c.64C>T (p.Gln22Ter)
|
|
|
NM_058195.4(CDKN2A):c.-24C>G
|
|
|
NM_058195.4(CDKN2A):c.-2A>C
|
|
|
NM_058195.4(CDKN2A):c.-54G>A
|
|
|
NM_058195.4(CDKN2A):c.135C>T (p.Leu45=)
|
rs766676234
|
|
NM_058195.4(CDKN2A):c.193+13del
|
|
|
NM_058195.4(CDKN2A):c.193+28G>A
|
|
|
NM_058195.4(CDKN2A):c.193+37G>C
|
|
|
NM_058195.4(CDKN2A):c.194-3653G>A
|
rs1800586
|
|
NM_058195.4(CDKN2A):c.194-3667G>C
|
|
|
NM_058216.3(RAD51C):c.*30T>G
|
|
|
NM_058216.3(RAD51C):c.*40T>C
|
|
|
NM_058216.3(RAD51C):c.*49A>G
|
|
|
NM_058216.3(RAD51C):c.1016T>A (p.Phe339Tyr)
|
|
|
NM_058216.3(RAD51C):c.1027-24G>A
|
|
|
NM_058216.3(RAD51C):c.1027-28A>G
|
|
|
NM_058216.3(RAD51C):c.1059T>A (p.Ser353=)
|
|
|
NM_058216.3(RAD51C):c.1116A>G (p.Pro372=)
|
rs1555605627
|
|
NM_058216.3(RAD51C):c.141C>G (p.Ser47Arg)
|
rs568912602
|
|
NM_058216.3(RAD51C):c.145+40C>A
|
|
|
NM_058216.3(RAD51C):c.146-29G>C
|
|
|
NM_058216.3(RAD51C):c.146-40C>G
|
|
|
NM_058216.3(RAD51C):c.146-45T>C
|
|
|
NM_058216.3(RAD51C):c.146-49C>G
|
|
|
NM_058216.3(RAD51C):c.178A>G (p.Thr60Ala)
|
rs2047941918
|
|
NM_058216.3(RAD51C):c.230del (p.Gly77fs)
|
rs1057519355
|
|
NM_058216.3(RAD51C):c.276G>C (p.Glu92Asp)
|
|
|
NM_058216.3(RAD51C):c.394dup (p.Thr132fs)
|
rs730881940
|
|
NM_058216.3(RAD51C):c.404+42A>G
|
|
|
NM_058216.3(RAD51C):c.404+44A>C
|
|
|
NM_058216.3(RAD51C):c.404+44_404+45del
|
rs746082340
|
|
NM_058216.3(RAD51C):c.405-22T>C
|
|
|
NM_058216.3(RAD51C):c.405-8G>A
|
rs1431351072
|
|
NM_058216.3(RAD51C):c.433C>T (p.Pro145Ser)
|
rs1555594594
|
|
NM_058216.3(RAD51C):c.463G>A (p.Ala155Thr)
|
rs755879664
|
|
NM_058216.3(RAD51C):c.498del (p.Asp167fs)
|
rs746993675
|
|
NM_058216.3(RAD51C):c.571+21_571+23del
|
rs1168224153
|
|
NM_058216.3(RAD51C):c.572-11del
|
rs587780258
|
|
NM_058216.3(RAD51C):c.572-22T>G
|
|
|
NM_058216.3(RAD51C):c.572-36C>G
|
|
|
NM_058216.3(RAD51C):c.699C>G (p.His233Gln)
|
|
|
NM_058216.3(RAD51C):c.745C>T (p.Arg249Cys)
|
rs28363311
|
|
NM_058216.3(RAD51C):c.757G>A (p.Asp253Asn)
|
|
|
NM_058216.3(RAD51C):c.774T>C (p.Arg258=)
|
rs1555599197
|
|
NM_058216.3(RAD51C):c.797C>G (p.Ala266Gly)
|
|
|
NM_058216.3(RAD51C):c.837+27T>G
|
|
|
NM_058216.3(RAD51C):c.837+42G>A
|
|
|
NM_058216.3(RAD51C):c.905-30A>G
|
|
|
NM_058216.3(RAD51C):c.905-44A>G
|
|
|
NM_058216.3(RAD51C):c.952G>A (p.Asp318Asn)
|
rs876659875
|
|
NM_058216.3(RAD51C):c.966-27A>G
|
|
|
NM_058216.3(RAD51C):c.978G>A (p.Leu326=)
|
|
|
NM_080425.4(GNAS):c.1394_1395insCGGGCCGCCCCGGAGTCGGGATCGGCTGGGGCGTCA (p.Pro465_Asp466insGlyProProArgSerArgAspArgLeuGlyArgGln)
|
|
|
NM_080732.4(EGLN2):c.173C>T (p.Ser58Leu)
|
|
|
NM_133433.4(NIPBL):c.385del (p.Ser129fs)
|
|
|
NM_133510.4(RAD51B):c.316-6_316-3del
|
|
|
NM_133510.4(RAD51B):c.84G>A (p.Gln28=)
|
rs764896402
|
|
NM_139027.6(ADAMTS13):c.136G>A (p.Val46Met)
|
rs201522226
|
|
NM_139027.6(ADAMTS13):c.1540C>T (p.Arg514Trp)
|
|
|
NM_139076.3(ABRAXAS1):c.364C>T (p.Gln122Ter)
|
rs137876115
|
|
NM_139276.3(STAT3):c.1250G>C (p.Arg417Thr)
|
|
|
NM_139276.3(STAT3):c.350A>G (p.Gln117Arg)
|
|
|
NM_139276.3(STAT3):c.484A>G (p.Met162Val)
|
|
|
NM_144997.7(FLCN):c.*2C>T
|
|
|
NM_144997.7(FLCN):c.-8A>G
|
|
|
NM_144997.7(FLCN):c.1011C>T (p.Ser337=)
|
rs1567812706
|
|
NM_144997.7(FLCN):c.102G>A (p.Gly34=)
|
|
|
NM_144997.7(FLCN):c.1033G>C (p.Val345Leu)
|
rs2144893824
|
|
NM_144997.7(FLCN):c.1062+21G>A
|
|
|
NM_144997.7(FLCN):c.1062+2T>G
|
rs886039370
|
|
NM_144997.7(FLCN):c.1062+46A>C
|
|
|
NM_144997.7(FLCN):c.1071T>C (p.Gly357=)
|
|
|
NM_144997.7(FLCN):c.1093_1113del (p.Ala365_Gly371del)
|
rs2144870247
|
|
NM_144997.7(FLCN):c.1097G>A (p.Trp366Ter)
|
rs2144870598
|
|
NM_144997.7(FLCN):c.1098G>A (p.Trp366Ter)
|
rs879255672
|
|
NM_144997.7(FLCN):c.1177-10T>C
|
|
|
NM_144997.7(FLCN):c.1251C>T (p.Phe417=)
|
rs980174552
|
|
NM_144997.7(FLCN):c.1285C>A (p.His429Asn)
|
rs375082054
|
|
NM_144997.7(FLCN):c.1285C>G (p.His429Asp)
|
rs375082054
|
|
NM_144997.7(FLCN):c.1285del (p.His429fs)
|
rs80338682
|
|
NM_144997.7(FLCN):c.1285dup (p.His429fs)
|
rs80338682
|
|
NM_144997.7(FLCN):c.1301-23C>T
|
|
|
NM_144997.7(FLCN):c.1301-38G>T
|
|
|
NM_144997.7(FLCN):c.1301-40A>G
|
|
|
NM_144997.7(FLCN):c.1350C>A (p.His450Gln)
|
|
|
NM_144997.7(FLCN):c.1404C>T (p.Thr468=)
|
|
|
NM_144997.7(FLCN):c.1432+23T>A
|
|
|
NM_144997.7(FLCN):c.1432+30T>C
|
|
|
NM_144997.7(FLCN):c.1432+42C>T
|
|
|
NM_144997.7(FLCN):c.1432+47G>A
|
|
|
NM_144997.7(FLCN):c.1433-42C>T
|
|
|
NM_144997.7(FLCN):c.1434G>A (p.Val478=)
|
rs1131690834
|
|
NM_144997.7(FLCN):c.1538+40del
|
|
|
NM_144997.7(FLCN):c.1539-27dup
|
|
|
NM_144997.7(FLCN):c.1539-49C>T
|
|
|
NM_144997.7(FLCN):c.154A>G (p.Ile52Val)
|
rs2047308054
|
|
NM_144997.7(FLCN):c.158del (p.Gln53fs)
|
rs1131690825
|
|
NM_144997.7(FLCN):c.1637del (p.Asn546fs)
|
|
|
NM_144997.7(FLCN):c.1683C>G (p.Tyr561Ter)
|
|
|
NM_144997.7(FLCN):c.1703C>T (p.Thr568Met)
|
rs781733528
|
|
NM_144997.7(FLCN):c.1708C>T (p.Arg570Cys)
|
rs752161850
|
|
NM_144997.7(FLCN):c.180G>C (p.Ala60=)
|
rs1203041436
|
|
NM_144997.7(FLCN):c.187C>G (p.Pro63Ala)
|
rs2047305711
|
|
NM_144997.7(FLCN):c.199dup (p.Ala67fs)
|
|
|
NM_144997.7(FLCN):c.235_238del (p.Ser79fs)
|
rs750146811
|
|
NM_144997.7(FLCN):c.249+14G>C
|
|
|
NM_144997.7(FLCN):c.249+16G>T
|
rs372318505
|
|
NM_144997.7(FLCN):c.249+2C>A
|
|
|
NM_144997.7(FLCN):c.249+5G>C
|
|
|
NM_144997.7(FLCN):c.250-47C>T
|
|
|
NM_144997.7(FLCN):c.250-4A>G
|
rs777642771
|
|
NM_144997.7(FLCN):c.250-51_250-48del
|
|
|
NM_144997.7(FLCN):c.333C>T (p.His111=)
|
rs1555610924
|
|
NM_144997.7(FLCN):c.372C>G (p.Ala124=)
|
rs2145010585
|
|
NM_144997.7(FLCN):c.396+1G>A
|
rs2145009900
|
|
NM_144997.7(FLCN):c.396+39C>T
|
|
|
NM_144997.7(FLCN):c.397-16G>A
|
rs201100388
|
|
NM_144997.7(FLCN):c.397-37G>A
|
|
|
NM_144997.7(FLCN):c.424TTC[1] (p.Phe143del)
|
rs764153620
|
|
NM_144997.7(FLCN):c.457A>G (p.Ser153Gly)
|
rs1479341645
|
|
NM_144997.7(FLCN):c.52A>G (p.Thr18Ala)
|
rs761993256
|
|
NM_144997.7(FLCN):c.57_58del (p.Phe20fs)
|
rs2145049426
|
|
NM_144997.7(FLCN):c.603G>C (p.Gln201His)
|
|
|
NM_144997.7(FLCN):c.618+23G>C
|
|
|
NM_144997.7(FLCN):c.618+28G>A
|
|
|
NM_144997.7(FLCN):c.618+29G>A
|
|
|
NM_144997.7(FLCN):c.618+35G>C
|
|
|
NM_144997.7(FLCN):c.618+36G>A
|
|
|
NM_144997.7(FLCN):c.624dup (p.Glu209Ter)
|
rs2144952338
|
|
NM_144997.7(FLCN):c.659A>T (p.Gln220Leu)
|
rs2047129363
|
|
NM_144997.7(FLCN):c.735A>G (p.Thr245=)
|
rs150175875
|
|
NM_144997.7(FLCN):c.756G>A (p.Ala252=)
|
rs746664975
|
|
NM_144997.7(FLCN):c.75G>A (p.Leu25=)
|
rs200350612
|
|
NM_144997.7(FLCN):c.779+46_779+47del
|
|
|
NM_144997.7(FLCN):c.779+50G>A
|
|
|
NM_144997.7(FLCN):c.780-2A>G
|
rs1555609514
|
|
NM_144997.7(FLCN):c.871+22C>T
|
|
|
NM_144997.7(FLCN):c.871+32G>A
|
|
|
NM_144997.7(FLCN):c.871+34C>T
|
rs1007272111
|
|
NM_144997.7(FLCN):c.871+44G>T
|
rs757688846
|
|
NM_144997.7(FLCN):c.884A>T (p.Glu295Val)
|
|
|
NM_144997.7(FLCN):c.942A>G (p.Pro314=)
|
|
|
NM_145239.3(PRRT2):c.649del (p.Arg217fs)
|
rs587778771
|
|
NM_152316.3(ARL14EP):c.625T>C (p.Cys209Arg)
|
|
|
NM_172351.3(CD46):c.185A>G (p.Tyr62Cys)
|
rs745317856
|
|
NM_172351.3(CD46):c.602C>T (p.Ser201Leu)
|
|
|
NM_172351.3(CD46):c.685C>T (p.Arg229Ter)
|
rs1553251787
|
|
NM_173648.4(CCDC141):c.163A>T (p.Ser55Cys)
|
|
|
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs)
|
rs606231128
|
|
NM_177438.3(DICER1):c.*14_*29del
|
rs2139764831
|
|
NM_177438.3(DICER1):c.*32A>G
|
|
|
NM_177438.3(DICER1):c.*40_*43del
|
|
|
NM_177438.3(DICER1):c.*44T>A
|
|
|
NM_177438.3(DICER1):c.1023del (p.His341fs)
|
|
|
NM_177438.3(DICER1):c.129G>T (p.Thr43=)
|
rs748819990
|
|
NM_177438.3(DICER1):c.1376+28A>G
|
|
|
NM_177438.3(DICER1):c.1377-22C>T
|
rs1892613969
|
|
NM_177438.3(DICER1):c.1377-4T>A
|
|
|
NM_177438.3(DICER1):c.1381A>T (p.Ile461Leu)
|
rs141163928
|
|
NM_177438.3(DICER1):c.144+21A>G
|
|
|
NM_177438.3(DICER1):c.144+37C>A
|
|
|
NM_177438.3(DICER1):c.145-22dup
|
rs558991368
|
|
NM_177438.3(DICER1):c.145-26T>C
|
|
|
NM_177438.3(DICER1):c.1509+42A>G
|
|
|
NM_177438.3(DICER1):c.1510-43A>T
|
rs202069569
|
|
NM_177438.3(DICER1):c.1510-4del
|
rs546524688
|
|
NM_177438.3(DICER1):c.1510-4dup
|
rs546524688
|
|
NM_177438.3(DICER1):c.1517G>C (p.Arg506Thr)
|
|
|
NM_177438.3(DICER1):c.1537A>G (p.Thr513Ala)
|
|
|
NM_177438.3(DICER1):c.1563T>G (p.Ile521Met)
|
|
|
NM_177438.3(DICER1):c.1736A>G (p.Tyr579Cys)
|
rs769034924
|
|
NM_177438.3(DICER1):c.1752+20A>G
|
rs2140122230
|
|
NM_177438.3(DICER1):c.1785T>C (p.Asp595=)
|
rs1595406955
|
|
NM_177438.3(DICER1):c.18G>A (p.Leu6=)
|
rs777350127
|
|
NM_177438.3(DICER1):c.1908-37T>A
|
|
|
NM_177438.3(DICER1):c.2026C>T (p.Arg676Ter)
|
rs878855246
|
|
NM_177438.3(DICER1):c.2035A>G (p.Ile679Val)
|
rs1224940599
|
|
NM_177438.3(DICER1):c.2057G>A (p.Cys686Tyr)
|
rs769510378
|
|
NM_177438.3(DICER1):c.2113A>G (p.Ile705Val)
|
rs752868874
|
|
NM_177438.3(DICER1):c.2213del (p.Gly738fs)
|
rs2140067347
|
|
NM_177438.3(DICER1):c.2256+32A>G
|
|
|
NM_177438.3(DICER1):c.2256+46T>C
|
|
|
NM_177438.3(DICER1):c.2257-21A>C
|
|
|
NM_177438.3(DICER1):c.243G>A (p.Leu81=)
|
rs761966110
|
|
NM_177438.3(DICER1):c.2493G>A (p.Leu831=)
|
rs2140025898
|
|
NM_177438.3(DICER1):c.253A>G (p.Ile85Val)
|
|
|
NM_177438.3(DICER1):c.2575C>T (p.Arg859Trp)
|
rs144649926
|
|
NM_177438.3(DICER1):c.2613C>T (p.Asp871=)
|
rs759827733
|
|
NM_177438.3(DICER1):c.2650+46A>G
|
|
|
NM_177438.3(DICER1):c.2651-14T>G
|
rs753857234
|
|
NM_177438.3(DICER1):c.2651-37G>A
|
|
|
NM_177438.3(DICER1):c.2651-46C>T
|
|
|
NM_177438.3(DICER1):c.2651-47T>C
|
|
|
NM_177438.3(DICER1):c.2805-16del
|
rs1247349215
|
|
NM_177438.3(DICER1):c.2949C>T (p.Leu983=)
|
rs1555370277
|
|
NM_177438.3(DICER1):c.2987+13A>G
|
rs2139998193
|
|
NM_177438.3(DICER1):c.307G>A (p.Ala103Thr)
|
|
|
NM_177438.3(DICER1):c.308-32A>G
|
rs1402243178
|
|
NM_177438.3(DICER1):c.3093+27C>A
|
|
|
NM_177438.3(DICER1):c.3156T>C (p.Val1052=)
|
|
|
NM_177438.3(DICER1):c.3269+16C>G
|
rs530476551
|
|
NM_177438.3(DICER1):c.3270-23A>G
|
|
|
NM_177438.3(DICER1):c.3326C>G (p.Ser1109Ter)
|
rs1891186811
|
|
NM_177438.3(DICER1):c.3336C>T (p.Asn1112=)
|
|
|
NM_177438.3(DICER1):c.3373del (p.Ser1125fs)
|
|
|
NM_177438.3(DICER1):c.3417A>G (p.Arg1139=)
|
rs750104632
|
|
NM_177438.3(DICER1):c.3475G>A (p.Glu1159Lys)
|
rs145693584
|
|
NM_177438.3(DICER1):c.3552C>G (p.Leu1184=)
|
|
|
NM_177438.3(DICER1):c.357C>A (p.Leu119=)
|
|
|
NM_177438.3(DICER1):c.3743_3751del (p.Asn1248_Ser1250del)
|
|
|
NM_177438.3(DICER1):c.3851G>C (p.Gly1284Ala)
|
rs563395930
|
|
NM_177438.3(DICER1):c.3859T>C (p.Ser1287Pro)
|
rs373980178
|
|
NM_177438.3(DICER1):c.3869T>G (p.Leu1290Arg)
|
|
|
NM_177438.3(DICER1):c.4004dup (p.Tyr1335Ter)
|
rs878855262
|
|
NM_177438.3(DICER1):c.4050+12dup
|
rs781354718
|
|
NM_177438.3(DICER1):c.4050+36A>G
|
|
|
NM_177438.3(DICER1):c.4050+8A>T
|
rs746668314
|
|
NM_177438.3(DICER1):c.4053C>T (p.Val1351=)
|
|
|
NM_177438.3(DICER1):c.4175G>A (p.Ser1392Asn)
|
rs751216539
|
|
NM_177438.3(DICER1):c.4206+11_4206+15del
|
|
|
NM_177438.3(DICER1):c.4206+13_4206+19del
|
|
|
NM_177438.3(DICER1):c.4206+1G>C
|
|
|
NM_177438.3(DICER1):c.4206+25del
|
|
|
NM_177438.3(DICER1):c.4206+37G>A
|
rs575559134
|
|
NM_177438.3(DICER1):c.4206+39G>A
|
|
|
NM_177438.3(DICER1):c.4206+41del
|
|
|
NM_177438.3(DICER1):c.4206+43del
|
|
|
NM_177438.3(DICER1):c.4206+4_4206+12del
|
|
|
NM_177438.3(DICER1):c.4206+7_4206+8dup
|
rs1555368535
|
|
NM_177438.3(DICER1):c.4206+8_4206+10del
|
|
|
NM_177438.3(DICER1):c.4206+8_4206+9insTTTG
|
rs763704682
|
|
NM_177438.3(DICER1):c.4206+9GT[12]
|
rs71838494
|
|
NM_177438.3(DICER1):c.4206+9GT[13]
|
rs71838494
|
|
NM_177438.3(DICER1):c.4206+9GT[14]
|
|
|
NM_177438.3(DICER1):c.4206+9GT[15]
|
rs71838494
|
|
NM_177438.3(DICER1):c.4206+9GT[16]
|
rs71838494
|
|
NM_177438.3(DICER1):c.4206+9GT[17]
|
rs71838494
|
|
NM_177438.3(DICER1):c.4206+9GT[18]
|
rs71838494
|
|
NM_177438.3(DICER1):c.4206+9GT[19]
|
rs71838494
|
|
NM_177438.3(DICER1):c.4206+9GT[21]
|
rs71838494
|
|
NM_177438.3(DICER1):c.4207-24C>A
|
|
|
NM_177438.3(DICER1):c.4207-36A>G
|
rs1198772747
|
|
NM_177438.3(DICER1):c.4254GGA[2] (p.Glu1420del)
|
rs544960260
|
|
NM_177438.3(DICER1):c.439-28_439-27del
|
rs779038098
|
|
NM_177438.3(DICER1):c.4400T>A (p.Ile1467Asn)
|
|
|
NM_177438.3(DICER1):c.4586A>G (p.Asn1529Ser)
|
rs2139847690
|
|
NM_177438.3(DICER1):c.4605_4606del (p.Cys1535fs)
|
rs886037717
|
|
NM_177438.3(DICER1):c.4641C>A (p.Asp1547Glu)
|
|
|
NM_177438.3(DICER1):c.4775C>T (p.Pro1592Leu)
|
rs1595339590
|
|
NM_177438.3(DICER1):c.4814C>G (p.Pro1605Arg)
|
rs939314926
|
|
NM_177438.3(DICER1):c.4889G>T (p.Arg1630Leu)
|
rs368343829
|
|
NM_177438.3(DICER1):c.5038A>G (p.Lys1680Glu)
|
rs1060503639
|
|
NM_177438.3(DICER1):c.5082C>T (p.Tyr1694=)
|
rs1555367486
|
|
NM_177438.3(DICER1):c.5095+20A>G
|
rs2139836543
|
|
NM_177438.3(DICER1):c.5096-48T>C
|
|
|
NM_177438.3(DICER1):c.5171C>T (p.Pro1724Leu)
|
rs749900564
|
|
NM_177438.3(DICER1):c.5236G>T (p.Ala1746Ser)
|
rs1595330274
|
|
NM_177438.3(DICER1):c.5365-32T>G
|
|
|
NM_177438.3(DICER1):c.541A>G (p.Ile181Val)
|
rs761253717
|
|
NM_177438.3(DICER1):c.5504A>G (p.Tyr1835Cys)
|
rs747510783
|
|
NM_177438.3(DICER1):c.5507C>T (p.Pro1836Leu)
|
rs187288681
|
|
NM_177438.3(DICER1):c.5527+26A>G
|
|
|
NM_177438.3(DICER1):c.5527+7T>C
|
rs375239471
|
|
NM_177438.3(DICER1):c.5540C>T (p.Ala1847Val)
|
|
|
NM_177438.3(DICER1):c.554C>G (p.Pro185Arg)
|
rs1170562259
|
|
NM_177438.3(DICER1):c.5604-48T>C
|
|
|
NM_177438.3(DICER1):c.5628G>C (p.Gly1876=)
|
rs1322664148
|
|
NM_177438.3(DICER1):c.5706T>C (p.Ser1902=)
|
rs1555365987
|
|
NM_177438.3(DICER1):c.573+13C>T
|
|
|
NM_177438.3(DICER1):c.574-19G>A
|
rs372965421
|
|
NM_177438.3(DICER1):c.712A>G (p.Thr238Ala)
|
rs760627991
|
|
NM_177438.3(DICER1):c.734+4T>A
|
rs866993296
|
|
NM_177438.3(DICER1):c.735-23A>G
|
|
|
NM_177438.3(DICER1):c.735-41C>T
|
|
|
NM_177438.3(DICER1):c.901C>T (p.Gln301Ter)
|
rs781144010
|
|
NM_177438.3(DICER1):c.904-19del
|
rs564981123
|
|
NM_178844.4(NLRC3):c.1258A>G (p.Met420Val)
|
|
|
NM_178844.4(NLRC3):c.1672G>A (p.Ala558Thr)
|
|
|
NM_182641.4(BPTF):c.1864+712dup
|
|
|
NM_182915.3(STEAP3):c.959TCT[1] (p.Phe321del)
|
|
|
NM_182916.3(TRNT1):c.1252dup (p.Ser418fs)
|
rs876661298
|
|
NM_198253.3(TERT):c.-147T>C
|
|
|
NM_198253.3(TERT):c.-165C>G
|
|
|
NM_198253.3(TERT):c.-174G>C
|
|
|
NM_198253.3(TERT):c.-31G>C
|
|
|
NM_198253.3(TERT):c.-4dup
|
|
|
NM_198253.3(TERT):c.-71G>C
|
|
|
NM_198253.3(TERT):c.-83delC
|
|
|
NM_198253.3(TERT):c.-86C>T
|
|
|
NM_198253.3(TERT):c.-89C>T
|
|
|
NM_198253.3(TERT):c.219+17T>G
|
|
|
NM_198253.3(TERT):c.219+2T>C
|
rs2126691326
|
|
NM_198253.3(TERT):c.27C>T (p.Ala9=)
|
rs1033959815
|
|
NM_198904.4(GABRG2):c.1231G>T (p.Glu411Ter)
|
|
|
NM_199242.3(UNC13D):c.2954+432del
|
|
|
NM_199242.3(UNC13D):c.46C>T (p.Arg16Cys)
|
|
|
NM_206943.4(LTBP1):c.2495T>C (p.Ile832Thr)
|
|
|
NM_207122.2(EXT2):c.1495+1G>A
|
|
|
NM_213653.4(HJV):c.526C>T (p.Arg176Cys)
|
|
|
UGT1A1*28
|
rs3064744
|
|
UGT1A1*37
|
rs3064744
|
|