NM_001278116.2(L1CAM):c.-109+95_-109+96insGCCG
|
rs58566947
|
0.99995
|
NM_000518.5(HBB):c.315+16G>C
|
rs10768683
|
0.82893
|
NM_021133.4(RNASEL):c.1385G>A (p.Arg462Gln)
|
rs486907
|
0.28062
|
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val)
|
rs1801133
|
0.27446
|
NM_000017.4(ACADS):c.625G>A (p.Gly209Ser)
|
rs1799958
|
0.20617
|
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser)
|
rs2071421
|
0.19530
|
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln)
|
rs1126809
|
0.18094
|
NM_000030.3(AGXT):c.1020A>G (p.Ile340Met)
|
rs4426527
|
0.15412
|
NM_001002294.3(FMO3):c.923A>G (p.Glu308Gly)
|
rs2266780
|
0.14140
|
NM_003690.5(PRKRA):c.677T>A (p.Ile226Asn)
|
rs77419724
|
0.13676
|
NM_002024.6(FMR1):c.357A>C (p.Lys119Asn)
|
rs201580891
|
0.13140
|
NM_000255.4(MMUT):c.1495G>A (p.Ala499Thr)
|
rs2229385
|
0.10476
|
NM_006206.6(PDGFRA):c.2323+1120C>T
|
rs2291591
|
0.08547
|
NM_030653.4(DDX11):c.1819G>C (p.Ala607Pro)
|
rs74912343
|
0.07203
|
NM_001379500.1(COL18A1):c.3778G>A (p.Asp1260Asn)
|
rs12483377
|
0.06693
|
NM_001008212.2(OPTN):c.293T>A (p.Met98Lys)
|
rs11258194
|
0.05969
|
NM_000130.5(F5):c.3980A>G (p.His1327Arg)
|
rs1800595
|
0.05074
|
NM_002529.4(NTRK1):c.1810C>T (p.His604Tyr)
|
rs6336
|
0.03696
|
NM_014675.5(CROCC):c.904C>G (p.Gln302Glu)
|
rs143501240
|
0.03575
|
NM_033337.3(CAV3):c.166G>A (p.Gly56Ser)
|
rs72546667
|
0.03558
|
NM_002335.4(LRP5):c.1999G>A (p.Val667Met)
|
rs4988321
|
0.03472
|
NM_024649.5(BBS1):c.700G>A (p.Glu234Lys)
|
rs35520756
|
0.03206
|
NM_013339.4(ALG6):c.391T>C (p.Tyr131His)
|
rs35383149
|
0.02935
|
NM_000350.3(ABCA4):c.3602T>G (p.Leu1201Arg)
|
rs61750126
|
0.02895
|
NM_000053.4(ATP7B):c.3620A>G (p.His1207Arg)
|
rs7334118
|
0.02828
|
NM_001083116.3(PRF1):c.272C>T (p.Ala91Val)
|
rs35947132
|
0.02791
|
NM_001018115.3(FANCD2):c.1868A>C (p.Gln623Pro)
|
rs36070315
|
0.02463
|
NM_000096.4(CP):c.1652C>T (p.Thr551Ile)
|
rs61733458
|
0.02154
|
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg)
|
rs11934801
|
0.01974
|
NM_004937.3(CTNS):c.124G>A (p.Val42Ile)
|
rs35086888
|
0.01867
|
NM_001256789.3(CACNA1F):c.1523G>A (p.Arg508Gln)
|
rs34162630
|
0.01756
|
NM_033409.4(SLC52A3):c.1048T>A (p.Leu350Met)
|
rs76947760
|
0.01629
|
NM_178012.5(TUBB2B):c.553G>A (p.Ala185Thr)
|
rs146544321
|
0.01565
|
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu)
|
rs41272687
|
0.01478
|
NM_000492.4(CFTR):c.*1043A>C
|
rs10234329
|
0.01452
|
NM_001029883.3(PCARE):c.1844T>A (p.Val615Asp)
|
rs140776870
|
0.01391
|
NM_001082971.2(DDC):c.629C>T (p.Pro210Leu)
|
rs6262
|
0.01372
|
NM_001365536.1(SCN9A):c.2827A>C (p.Met943Leu)
|
rs12478318
|
0.01339
|
NM_003000.3(SDHB):c.8C>G (p.Ala3Gly)
|
rs11203289
|
0.01309
|
NM_024312.5(GNPTAB):c.1042A>C (p.Ile348Leu)
|
rs7958709
|
0.01289
|
NM_033118.4(MYLK2):c.430C>G (p.Pro144Ala)
|
rs34396614
|
0.01268
|
NM_025137.4(SPG11):c.7256A>G (p.Lys2419Arg)
|
rs76116949
|
0.01253
|
NM_001370658.1(BTD):c.820A>G (p.Ile274Val)
|
rs35976361
|
0.01187
|
NM_002693.3(POLG):c.3643+48A>G
|
rs2307454
|
0.01182
|
NM_000249.4(MLH1):c.1039-8T>A
|
rs193922367
|
0.01153
|
NM_000359.3(TGM1):c.1552G>A (p.Val518Met)
|
rs35312232
|
0.01146
|
NM_004387.4(NKX2-5):c.73C>T (p.Arg25Cys)
|
rs28936670
|
0.01082
|
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn)
|
rs74374973
|
0.00994
|
NM_000209.4(PDX1):c.716C>A (p.Pro239Gln)
|
rs199644078
|
0.00993
|
NM_000204.5(CFI):c.1534+5G>T
|
rs114013791
|
0.00951
|
NM_000171.4(GLRA1):c.1108G>A (p.Gly370Ser)
|
rs116474260
|
0.00939
|
NM_000249.4(MLH1):c.1732-19T>A
|
rs77120160
|
0.00923
|
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro)
|
rs33927012
|
0.00921
|
NM_001710.6(CFB):c.1697A>C (p.Glu566Ala)
|
rs45484591
|
0.00913
|
NM_024408.4(NOTCH2):c.272G>T (p.Arg91Leu)
|
rs143195893
|
0.00899
|
NM_000211.5(ITGB2):c.329-6C>T
|
rs9983887
|
0.00876
|
NM_000142.5(FGFR3):c.1345C>T (p.Pro449Ser)
|
rs61735104
|
0.00867
|
NM_000535.7(PMS2):c.52A>G (p.Ile18Val)
|
rs63750123
|
0.00861
|
NM_000037.4(ANK1):c.5544+91C>T
|
rs72638959
|
0.00849
|
NM_000211.5(ITGB2):c.1756C>T (p.Arg586Trp)
|
rs5030672
|
0.00847
|
NM_004577.4(PSPH):c.650T>C (p.Val217Ala)
|
rs73343752
|
0.00788
|
NM_002693.3(POLG):c.3561G>C (p.Arg1187=)
|
rs62640037
|
0.00787
|
NM_001386298.1(CIC):c.7510T>C (p.Ser2504Pro)
|
rs745695673
|
0.00775
|
NM_052865.4(MGME1):c.794C>T (p.Thr265Ile)
|
rs76599088
|
0.00768
|
NM_181332.3(NLGN4X):c.1777C>T (p.Leu593Phe)
|
rs3747333
|
0.00756
|
NM_001457.4(FLNB):c.6956T>C (p.Ile2319Thr)
|
rs116826041
|
0.00739
|
NM_000465.4(BARD1):c.1972C>T (p.Arg658Cys)
|
rs3738888
|
0.00736
|
NM_000481.4(AMT):c.631G>A (p.Glu211Lys)
|
rs116192290
|
0.00735
|
NM_000030.3(AGXT):c.26C>A (p.Thr9Asn)
|
rs115014558
|
0.00719
|
NM_021625.5(TRPV4):c.2518G>A (p.Glu840Lys)
|
rs55728855
|
0.00718
|
NM_001113378.2(FANCI):c.1813C>T (p.Leu605Phe)
|
rs117125761
|
0.00708
|
NM_001130987.2(DYSF):c.*107T>A
|
rs11903223
|
0.00707
|
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser)
|
rs34677591
|
0.00706
|
NM_022173.4(TIA1):c.953A>G (p.Gln318Arg)
|
rs115611153
|
0.00704
|
NM_004541.4(NDUFA1):c.94G>C (p.Gly32Arg)
|
rs1801316
|
0.00694
|
NM_001126049.2(KLLN):c.-956G>T
|
rs34149102
|
0.00683
|
NM_003002.4(SDHD):c.149A>G (p.His50Arg)
|
rs11214077
|
0.00679
|
NM_030632.3(ASXL3):c.6200T>G (p.Leu2067Arg)
|
rs144534810
|
0.00679
|
NM_001142800.2(EYS):c.8422G>A (p.Ala2808Thr)
|
rs111991705
|
0.00667
|
NM_016239.4(MYO15A):c.9478C>T (p.Leu3160Phe)
|
rs140029076
|
0.00658
|
NM_001190274.2(FBXO11):c.*1173A>T
|
rs2020906
|
0.00645
|
NM_017617.5(NOTCH1):c.3767C>T (p.Pro1256Leu)
|
rs80340744
|
0.00645
|
NM_017799.4(TMEM260):c.1411G>A (p.Glu471Lys)
|
rs113277637
|
0.00639
|
NM_031220.4(PITPNM3):c.541G>A (p.Val181Ile)
|
rs61755430
|
0.00628
|
NM_015937.6(PIGT):c.367G>T (p.Val123Leu)
|
rs141420243
|
0.00626
|
NM_000110.4(DPYD):c.557A>G (p.Tyr186Cys)
|
rs115232898
|
0.00622
|
NM_000061.3(BTK):c.141+11C>T
|
rs138411530
|
0.00620
|
NM_001875.5(CPS1):c.449G>A (p.Gly150Glu)
|
rs114819130
|
0.00617
|
NM_015634.4(KIFBP):c.518T>C (p.Met173Thr)
|
rs62625033
|
0.00610
|
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr)
|
rs28897727
|
0.00609
|
NM_000368.5(TSC1):c.2626-3C>T
|
rs1060503192
|
0.00608
|
NM_006765.4(TUSC3):c.193A>G (p.Ile65Val)
|
rs11545035
|
0.00605
|
NM_006231.4(POLE):c.776G>A (p.Arg259His)
|
rs61732929
|
0.00604
|
NM_004646.4(NPHS1):c.563A>T (p.Asn188Ile)
|
rs145125791
|
0.00598
|
NM_001008216.2(GALE):c.770A>G (p.Lys257Arg)
|
rs28940884
|
0.00596
|
NM_001605.3(AARS1):c.1685C>T (p.Thr562Ile)
|
rs148355156
|
0.00591
|
NM_000179.3(MSH6):c.3557-40T>A
|
rs189436849
|
0.00587
|
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg)
|
rs142645936
|
0.00585
|
NM_000038.6(APC):c.1959G>A (p.Arg653=)
|
rs72541809
|
0.00583
|
NM_002256.4(KISS1):c.268C>G (p.His90Asp)
|
rs201073751
|
0.00578
|
NM_000718.4(CACNA1B):c.2093-4C>A
|
rs76062311
|
0.00574
|
NM_000969.5(RPL5):c.629A>G (p.Tyr210Cys)
|
rs11540832
|
0.00574
|
NM_003477.3(PDHX):c.976G>C (p.Val326Leu)
|
rs35560997
|
0.00574
|
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg)
|
rs34911792
|
0.00573
|
NM_006662.3(SRCAP):c.3302C>A (p.Thr1101Lys)
|
rs149248373
|
0.00571
|
NM_000321.3(RB1):c.2521-11G>A
|
rs4151624
|
0.00570
|
NM_004544.4(NDUFA10):c.712G>A (p.Glu238Lys)
|
rs35462421
|
0.00570
|
NM_182961.4(SYNE1):c.24952C>T (p.Leu8318Phe)
|
rs141716975
|
0.00570
|
NM_004341.5(CAD):c.4930T>C (p.Phe1644Leu)
|
rs144692793
|
0.00569
|
NM_000179.3(MSH6):c.1186C>G (p.Leu396Val)
|
rs2020908
|
0.00565
|
NM_153252.5(BRWD3):c.2325+5G>A
|
rs186391561
|
0.00565
|
NM_000138.5(FBN1):c.5343G>A (p.Val1781=)
|
rs140649
|
0.00561
|
NM_015425.6(POLR1A):c.473G>C (p.Arg158Pro)
|
rs146078741
|
0.00557
|
NM_000038.6(APC):c.-19+45G>A
|
rs370011472
|
0.00550
|
NM_024589.3(ROGDI):c.713G>A (p.Arg238His)
|
rs138409264
|
0.00548
|
NM_002055.5(GFAP):c.140C>T (p.Pro47Leu)
|
rs57474185
|
0.00543
|
NM_015330.6(SPECC1L):c.1460G>A (p.Arg487His)
|
rs55723436
|
0.00543
|
NM_000321.3(RB1):c.2490-45A>G
|
rs4151610
|
0.00540
|
NM_014805.3(EPM2AIP1):c.-202G>C
|
rs35032294
|
0.00539
|
NM_001174150.2(ARL13B):c.1186C>G (p.Pro396Ala)
|
rs11554412
|
0.00529
|
NM_000554.6(CRX):c.724G>A (p.Val242Met)
|
rs61748459
|
0.00521
|
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser)
|
rs147099630
|
0.00521
|
NM_000051.4(ATM):c.6088A>G (p.Ile2030Val)
|
rs145847315
|
0.00517
|
NM_002693.3(POLG):c.1550G>T (p.Gly517Val)
|
rs61752783
|
0.00516
|
NM_000090.4(COL3A1):c.1804C>A (p.Pro602Thr)
|
rs35795890
|
0.00513
|
NM_058216.3(RAD51C):c.572-17G>T
|
rs193023469
|
0.00513
|
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe)
|
rs1800361
|
0.00511
|
NM_001348800.3(ZBTB20):c.1318G>A (p.Glu440Lys)
|
rs138924453
|
0.00511
|
NM_000208.4(INSR):c.3034G>A (p.Val1012Met)
|
rs1799816
|
0.00500
|
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser)
|
rs141268327
|
0.00496
|
NM_001009944.3(PKD1):c.6545A>G (p.Gln2182Arg)
|
rs147685291
|
0.00492
|
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val)
|
rs121908954
|
0.00491
|
NM_004370.6(COL12A1):c.9083G>A (p.Arg3028His)
|
rs41266761
|
0.00484
|
NM_001377299.1(NDUFS2):c.968G>A (p.Arg323Gln)
|
rs35086265
|
0.00477
|
NM_000251.3(MSH2):c.1666T>C (p.Leu556=)
|
rs61756466
|
0.00471
|
NM_000141.5(FGFR2):c.1288-35A>G
|
rs41295587
|
0.00467
|
NM_001166114.2(PNPLA6):c.1457C>T (p.Pro486Leu)
|
rs145191932
|
0.00466
|
NM_001199198.3(TBC1D23):c.92G>C (p.Cys31Ser)
|
rs62636640
|
0.00466
|
NM_002472.3(MYH8):c.5350C>G (p.Arg1784Gly)
|
rs141215006
|
0.00462
|
NM_002474.3(MYH11):c.5676G>C (p.Glu1892Asp)
|
rs113964173
|
0.00462
|
NM_001018115.3(FANCD2):c.1634A>G (p.Asn545Ser)
|
rs145522204
|
0.00460
|
NM_022552.5(DNMT3A):c.89A>C (p.Glu30Ala)
|
rs143730975
|
0.00459
|
NM_006567.5(FARS2):c.737C>T (p.Thr246Met)
|
rs116567033
|
0.00455
|
NM_004562.3(PRKN):c.458C>G (p.Pro153Arg)
|
rs55654276
|
0.00452
|
NM_183357.3(ADCY5):c.1902G>C (p.Glu634Asp)
|
rs61734561
|
0.00451
|
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_173354.5(SIK1):c.1215G>A (p.Met405Ile)
|
rs34987632
|
0.00446
|
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val)
|
rs1801673
|
0.00441
|
NM_015330.6(SPECC1L):c.293C>T (p.Ser98Phe)
|
rs35783914
|
0.00439
|
NM_000057.4(BLM):c.4076+4T>G
|
rs183176301
|
0.00436
|
NM_000179.3(MSH6):c.457+13A>G
|
rs1800933
|
0.00434
|
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser)
|
rs2227922
|
0.00431
|
NM_000053.4(ATP7B):c.3101A>G (p.His1034Arg)
|
rs74085882
|
0.00430
|
NM_007294.4(BRCA1):c.*750A>G
|
rs138782023
|
0.00430
|
NM_014026.6(DCPS):c.677G>A (p.Gly226Asp)
|
rs35836343
|
0.00427
|
NM_006939.4(SOS2):c.572C>G (p.Pro191Arg)
|
rs72681869
|
0.00421
|
NM_000245.4(MET):c.504G>T (p.Glu168Asp)
|
rs55985569
|
0.00420
|
NM_017617.5(NOTCH1):c.1042G>C (p.Ala348Pro)
|
rs201236538
|
0.00418
|
NM_000254.3(MTR):c.155G>A (p.Arg52Gln)
|
rs12749581
|
0.00417
|
NM_000322.5(PRPH2):c.133C>T (p.Leu45Phe)
|
rs61755770
|
0.00414
|
NM_000038.6(APC):c.933+30A>G
|
rs145211300
|
0.00412
|
NM_006982.3(ALX1):c.191G>T (p.Arg64Leu)
|
rs115596276
|
0.00412
|
NM_001429.4(EP300):c.2773C>A (p.Pro925Thr)
|
rs148884710
|
0.00410
|
NM_003036.4(SKI):c.1163C>T (p.Ala388Val)
|
rs75280988
|
0.00410
|
NM_024989.4(PGAP1):c.1753C>G (p.Gln585Glu)
|
rs62185645
|
0.00410
|
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln)
|
rs188164241
|
0.00405
|
NM_014336.5(AIPL1):c.401A>T (p.Tyr134Phe)
|
rs16955851
|
0.00404
|
NM_006662.3(SRCAP):c.5705A>G (p.Glu1902Gly)
|
rs117480926
|
0.00402
|
NM_000249.4(MLH1):c.1852A>G (p.Lys618Glu)
|
rs35001569
|
0.00399
|
NM_006432.5(NPC2):c.441+1G>A
|
rs140130028
|
0.00399
|
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu)
|
rs112306990
|
0.00398
|
NM_001106.4(ACVR2B):c.119G>A (p.Arg40His)
|
rs121434437
|
0.00398
|
NM_015268.4(DNAJC13):c.3872A>G (p.Glu1291Gly)
|
rs61748101
|
0.00396
|
NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser)
|
rs28940272
|
0.00396
|
NM_000424.4(KRT5):c.1636C>A (p.Leu546Ile)
|
rs114734812
|
0.00394
|
NM_001379610.1(SPINK1):c.163C>T (p.Pro55Ser)
|
rs111966833
|
0.00389
|
NM_001098.3(ACO2):c.220C>G (p.Leu74Val)
|
rs141772938
|
0.00383
|
NM_006218.4(PIK3CA):c.-138C>T
|
rs149946088
|
0.00383
|
NM_001429.4(EP300):c.2091T>G (p.Ser697Arg)
|
rs61756764
|
0.00379
|
NM_002529.4(NTRK1):c.16C>T (p.Arg6Trp)
|
rs201472270
|
0.00373
|
NM_001297.5(CNGB1):c.3115G>A (p.Gly1039Arg)
|
rs148999583
|
0.00372
|
NM_000397.4(CYBB):c.1090G>C (p.Gly364Arg)
|
rs141756032
|
0.00371
|
NM_138694.4(PKHD1):c.5125C>T (p.Leu1709Phe)
|
rs45517932
|
0.00371
|
NM_001244008.2(KIF1A):c.3259C>T (p.Pro1087Ser)
|
rs143037290
|
0.00369
|
NM_022168.4(IFIH1):c.1879G>T (p.Glu627Ter)
|
rs35744605
|
0.00367
|
NM_001040142.2(SCN2A):c.2723A>G (p.Lys908Arg)
|
rs2228980
|
0.00365
|
NM_004260.4(RECQL4):c.1704+9C>T
|
rs35876881
|
0.00365
|
NM_001256849.1(POLD1):c.-51G>A
|
rs576035899
|
0.00364
|
NM_002693.3(POLG):c.803G>C (p.Gly268Ala)
|
rs61752784
|
0.00364
|
NM_002892.4(ARID4A):c.3211+1G>A
|
rs62621193
|
0.00363
|
NM_032043.3(BRIP1):c.517C>T (p.Arg173Cys)
|
rs4988345
|
0.00363
|
NM_172002.5(HSCB):c.13A>G (p.Arg5Gly)
|
rs200681712
|
0.00363
|
NM_000136.3(FANCC):c.1394A>G (p.Gln465Arg)
|
rs1800368
|
0.00361
|
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr)
|
rs112029032
|
0.00361
|
NM_003238.6(TGFB2):c.619G>C (p.Val207Leu)
|
rs10482810
|
0.00359
|
NM_000038.6(APC):c.7862C>G (p.Ser2621Cys)
|
rs72541816
|
0.00358
|
NM_001199753.2(CPT1C):c.2077C>A (p.Leu693Met)
|
rs79488403
|
0.00356
|
NM_002907.4(RECQL):c.1483G>C (p.Asp495His)
|
rs6499
|
0.00353
|
NM_000391.4(TPP1):c.229+181A>C
|
rs189816289
|
0.00351
|
NM_001032386.2(SUOX):c.629C>T (p.Pro210Leu)
|
rs141735896
|
0.00351
|
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp)
|
rs115545701
|
0.00350
|
NM_058216.3(RAD51C):c.376G>A (p.Ala126Thr)
|
rs61758784
|
0.00349
|
NM_182925.5(FLT4):c.1921C>T (p.Pro641Ser)
|
rs55667289
|
0.00349
|
NM_001851.6(COL9A1):c.1349A>G (p.Glu450Gly)
|
rs77706858
|
0.00348
|
NM_016239.4(MYO15A):c.3026C>A (p.Pro1009His)
|
rs117612144
|
0.00347
|
NM_000142.5(FGFR3):c.1150T>C (p.Phe384Leu)
|
rs17881656
|
0.00342
|
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn)
|
rs11971167
|
0.00338
|
NM_020754.4(ARHGAP31):c.820C>T (p.Pro274Ser)
|
rs139600783
|
0.00337
|
NM_000338.3(SLC12A1):c.347G>A (p.Arg116His)
|
rs34819316
|
0.00334
|
NM_001134363.3(RBM20):c.3373G>A (p.Glu1125Lys)
|
rs116908219
|
0.00333
|
NM_014014.5(SNRNP200):c.4165G>A (p.Val1389Ile)
|
rs143898031
|
0.00328
|
NM_000245.4(MET):c.2908C>T (p.Arg970Cys)
|
rs34589476
|
0.00327
|
NM_006231.4(POLE):c.4259C>T (p.Ala1420Val)
|
rs41561818
|
0.00325
|
NM_000168.6(GLI3):c.1393G>C (p.Gly465Arg)
|
rs35488756
|
0.00320
|
NM_213599.3(ANO5):c.680G>C (p.Gly227Ala)
|
rs140903276
|
0.00320
|
NM_006514.4(SCN10A):c.5657C>T (p.Ala1886Val)
|
rs142653846
|
0.00318
|
NM_001348800.3(ZBTB20):c.1164C>G (p.Asp388Glu)
|
rs144663365
|
0.00317
|
NM_033337.3(CAV3):c.233C>T (p.Thr78Met)
|
rs72546668
|
0.00317
|
NM_000355.4(TCN2):c.428-31G>A
|
rs188667136
|
0.00314
|
NM_000251.3(MSH2):c.339G>A (p.Lys113=)
|
rs35898375
|
0.00313
|
NM_005529.7(HSPG2):c.10498G>A (p.Val3500Met)
|
rs143543800
|
0.00313
|
NM_006565.4(CTCF):c.1927C>T (p.Pro643Ser)
|
rs145727304
|
0.00312
|
NM_002470.4(MYH3):c.4910C>T (p.Ala1637Val)
|
rs34165480
|
0.00311
|
NM_004360.5(CDH1):c.1774G>A (p.Ala592Thr)
|
rs35187787
|
0.00311
|
NM_006493.4(CLN5):c.-87C>T
|
rs200353554
|
0.00309
|
NM_018706.7(DHTKD1):c.209C>G (p.Ala70Gly)
|
rs34644609
|
0.00309
|
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr)
|
rs28935490
|
0.00308
|
NM_001182.4(ALDH7A1):c.-80T>G
|
rs563928852
|
0.00308
|
NM_006218.4(PIK3CA):c.1146-30G>A
|
rs8192676
|
0.00308
|
NM_000208.4(INSR):c.2971C>A (p.Leu991Ile)
|
rs150114699
|
0.00307
|
NM_012082.4(ZFPM2):c.1632G>A (p.Met544Ile)
|
rs187043152
|
0.00306
|
NM_032043.3(BRIP1):c.577G>A (p.Val193Ile)
|
rs4988346
|
0.00305
|
NM_015909.4(NBAS):c.4913G>A (p.Arg1638His)
|
rs146449593
|
0.00303
|
NM_001048174.2(MUTYH):c.1103-27C>T
|
rs3219490
|
0.00300
|
NM_001063.4(TF):c.2012G>A (p.Gly671Glu)
|
rs121918677
|
0.00299
|
NM_003238.6(TGFB2):c.272G>A (p.Arg91His)
|
rs10482721
|
0.00297
|
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=)
|
rs28897724
|
0.00295
|
NM_000166.6(GJB1):c.704T>G (p.Phe235Cys)
|
rs104894825
|
0.00295
|
NM_213599.3(ANO5):c.259G>A (p.Val87Ile)
|
rs34994927
|
0.00293
|
NM_017780.4(CHD7):c.856A>G (p.Arg286Gly)
|
rs61995713
|
0.00290
|
NM_024675.4(PALB2):c.2590C>T (p.Pro864Ser)
|
rs45568339
|
0.00287
|
NM_004260.4(RECQL4):c.1954G>A (p.Val652Met)
|
rs61754061
|
0.00285
|
NM_000057.4(BLM):c.1088-40T>C
|
rs184128669
|
0.00278
|
NM_000059.4(BRCA2):c.68-7T>A
|
rs81002830
|
0.00277
|
NM_000553.6(WRN):c.3785C>G (p.Thr1262Arg)
|
rs78488552
|
0.00276
|
NM_000136.3(FANCC):c.584A>T (p.Asp195Val)
|
rs1800365
|
0.00275
|
NM_000168.6(GLI3):c.341G>A (p.Arg114Lys)
|
rs146458902
|
0.00274
|
NM_000203.5(IDUA):c.246C>G (p.His82Gln)
|
rs148775298
|
0.00274
|
NM_000969.5(RPL5):c.3+3G>C
|
rs200628272
|
0.00274
|
NM_152416.4(NDUFAF6):c.838G>A (p.Val280Ile)
|
rs61743028
|
0.00274
|
NM_006363.6(SEC23B):c.1512T>C (p.Asn504=)
|
rs138198461
|
0.00271
|
NM_032043.3(BRIP1):c.2097+7G>A
|
rs4988352
|
0.00271
|
NM_007194.4(CHEK2):c.592+50A>T
|
rs17881298
|
0.00270
|
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys)
|
rs1799954
|
0.00268
|
NM_017780.4(CHD7):c.7579A>C (p.Met2527Leu)
|
rs192129249
|
0.00267
|
NM_030962.4(SBF2):c.2323G>A (p.Gly775Ser)
|
rs141330687
|
0.00267
|
NM_002485.5(NBN):c.381T>C (p.Ala127=)
|
rs61754795
|
0.00266
|
NM_000051.4(ATM):c.2362A>C (p.Ser788Arg)
|
rs641252
|
0.00265
|
NM_015102.5(NPHP4):c.1622C>T (p.Pro541Leu)
|
rs145255635
|
0.00265
|
NM_000222.3(KIT):c.2597-51T>C
|
rs368272654
|
0.00263
|
NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His)
|
rs35029074
|
0.00260
|
NM_002609.4(PDGFRB):c.3287C>T (p.Ala1096Val)
|
rs114435947
|
0.00259
|
NM_001243177.4(ALDOA):c.1201G>A (p.Gly401Ser)
|
rs138824667
|
0.00256
|
NM_000179.3(MSH6):c.3911G>A (p.Arg1304Lys)
|
rs34625968
|
0.00253
|
NM_001042517.2(DIAPH3):c.2149T>C (p.Ser717Pro)
|
rs191267920
|
0.00253
|
NM_005236.3(ERCC4):c.2579C>A (p.Ala860Asp)
|
rs4986933
|
0.00253
|
NM_006502.3(POLH):c.626G>T (p.Gly209Val)
|
rs2307456
|
0.00253
|
NM_007315.4(STAT1):c.796G>A (p.Val266Ile)
|
rs41473544
|
0.00251
|
NM_000038.6(APC):c.3386T>C (p.Leu1129Ser)
|
rs143638171
|
0.00250
|
NM_000088.4(COL1A1):c.1984-5C>A
|
rs66592376
|
0.00249
|
NM_000057.4(BLM):c.3613G>A (p.Val1205Ile)
|
rs28385141
|
0.00245
|
NM_004168.4(SDHA):c.1523C>T (p.Thr508Ile)
|
rs151266052
|
0.00245
|
NM_003072.5(SMARCA4):c.2275-3C>A
|
rs117611401
|
0.00243
|
NM_000245.4(MET):c.2365-21G>C
|
rs140853140
|
0.00242
|
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_000059.4(BRCA2):c.8182G>A (p.Val2728Ile)
|
rs28897749
|
0.00239
|
NM_000136.3(FANCC):c.1156T>C (p.Ser386Pro)
|
rs41281202
|
0.00236
|
NM_207122.2(EXT2):c.710C>T (p.Ser237Leu)
|
rs139525250
|
0.00236
|
NM_001148.6(ANK2):c.11791G>A (p.Glu3931Lys)
|
rs45454496
|
0.00235
|
NM_000057.4(BLM):c.4077-10C>T
|
rs145310008
|
0.00233
|
NM_015107.3(PHF8):c.2720G>A (p.Arg907His)
|
rs142630105
|
0.00233
|
NM_020822.3(KCNT1):c.2543A>G (p.Glu848Gly)
|
rs149804567
|
0.00233
|
NM_000554.6(CRX):c.196G>A (p.Val66Ile)
|
rs61748438
|
0.00231
|
NM_000465.4(BARD1):c.1977A>G (p.Arg659=)
|
rs147215925
|
0.00230
|
NM_000122.2(ERCC3):c.2111C>T (p.Ser704Leu)
|
rs4150521
|
0.00227
|
NM_022454.4(SOX17):c.775T>A (p.Tyr259Asn)
|
rs267607083
|
0.00226
|
NM_000377.3(WAS):c.391G>A (p.Glu131Lys)
|
rs146220228
|
0.00222
|
NM_001009944.3(PKD1):c.6749C>T (p.Thr2250Met)
|
rs139971481
|
0.00222
|
NM_014874.4(MFN2):c.892G>A (p.Gly298Arg)
|
rs41278630
|
0.00221
|
NM_001042492.3(NF1):c.1994C>T (p.Ser665Phe)
|
rs145891889
|
0.00220
|
NM_144964.4(TRMT10B):c.866A>T (p.Tyr289Phe)
|
rs199618338
|
0.00220
|
NM_144964.4(TRMT10B):c.867C>A (p.Tyr289Ter)
|
rs200754365
|
0.00220
|
NM_001242896.3(DEPDC5):c.2020C>T (p.Arg674Cys)
|
rs181347577
|
0.00218
|
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr)
|
rs41419545
|
0.00217
|
NM_005236.3(ERCC4):c.1812-5T>C
|
rs2020952
|
0.00215
|
NM_006495.4(EVI2B):c.1019C>G (p.Pro340Arg)
|
rs17884293
|
0.00215
|
NM_000057.4(BLM):c.254G>C (p.Arg85Thr)
|
rs141503266
|
0.00213
|
NM_000077.5(CDKN2A):c.150+37G>C
|
rs45456595
|
0.00212
|
NM_000492.4(CFTR):c.2620-15C>G
|
rs139379077
|
0.00212
|
NM_001999.4(FBN2):c.829G>A (p.Val277Ile)
|
rs146849637
|
0.00210
|
NM_000059.4(BRCA2):c.2926T>A (p.Ser976Thr)
|
rs144862123
|
0.00208
|
NM_000059.4(BRCA2):c.2927C>T (p.Ser976Phe)
|
rs11571656
|
0.00208
|
NM_004006.3(DMD):c.3970C>T (p.Arg1324Cys)
|
rs143184877
|
0.00208
|
NM_002485.5(NBN):c.643C>T (p.Arg215Trp)
|
rs34767364
|
0.00206
|
NM_005431.2(XRCC2):c.808T>G (p.Phe270Val)
|
rs145085742
|
0.00205
|
NM_000059.4(BRCA2):c.7150C>A (p.Gln2384Lys)
|
rs55977008
|
0.00203
|
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro)
|
rs11571746
|
0.00202
|
NM_001370259.2(MEN1):c.-24+84C>G
|
rs568093485
|
0.00202
|
NM_000251.3(MSH2):c.*226A>G
|
rs17225060
|
0.00201
|
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu)
|
rs17883862
|
0.00201
|
NM_000314.8(PTEN):c.254-34T>G
|
rs34047313
|
0.00200
|
NM_001242896.3(DEPDC5):c.3683T>C (p.Ile1228Thr)
|
rs200653339
|
0.00200
|
NM_004840.3(ARHGEF6):c.169T>C (p.Cys57Arg)
|
rs147131853
|
0.00200
|
NM_000314.8(PTEN):c.209+84G>A
|
rs185262832
|
0.00199
|
NM_014215.3(INSRR):c.1660C>T (p.Arg554Cys)
|
rs56068937
|
0.00199
|
NM_000545.8(HNF1A):c.1165T>G (p.Leu389Val)
|
rs115080759
|
0.00198
|
NM_014215.3(INSRR):c.736T>C (p.Cys246Arg)
|
rs56377825
|
0.00197
|
NM_032043.3(BRIP1):c.584T>C (p.Leu195Pro)
|
rs4988347
|
0.00197
|
NM_000051.4(ATM):c.8269-14A>T
|
rs114320959
|
0.00195
|
NM_000059.4(BRCA2):c.6937+565T>C
|
rs11571675
|
0.00195
|
NM_000168.6(GLI3):c.2424A>G (p.Ile808Met)
|
rs62622373
|
0.00194
|
NM_014795.4(ZEB2):c.807+3G>C
|
rs144925893
|
0.00194
|
NM_199242.3(UNC13D):c.847A>G (p.Ile283Val)
|
rs61754871
|
0.00194
|
NM_001048166.1(STIL):c.1455G>C (p.Leu485Phe)
|
rs139912214
|
0.00193
|
NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg)
|
rs145169006
|
0.00193
|
NM_004618.5(TOP3A):c.2270C>T (p.Pro757Leu)
|
rs149596894
|
0.00192
|
NM_000350.3(ABCA4):c.5196+1159G>A
|
rs80110715
|
0.00191
|
NM_014967.5(FAN1):c.149T>G (p.Met50Arg)
|
rs148404807
|
0.00191
|
NM_024589.3(ROGDI):c.522C>T (p.Ser174=)
|
rs150687774
|
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_002485.5(NBN):c.283G>A (p.Asp95Asn)
|
rs61753720
|
0.00188
|
NM_000051.4(ATM):c.1229T>C (p.Val410Ala)
|
rs56128736
|
0.00186
|
NM_003000.3(SDHB):c.32G>A (p.Arg11His)
|
rs111430410
|
0.00185
|
NM_000435.3(NOTCH3):c.509A>G (p.His170Arg)
|
rs147373451
|
0.00184
|
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala)
|
rs28897710
|
0.00182
|
NM_001378414.1(HDAC4):c.2371G>A (p.Ala791Thr)
|
rs61754648
|
0.00181
|
NM_003000.3(SDHB):c.423+20T>A
|
rs190139590
|
0.00179
|
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe)
|
rs77724903
|
0.00178
|
NM_152564.5(VPS13B):c.11195G>A (p.Arg3732Gln)
|
rs149318176
|
0.00178
|
NM_000371.4(TTR):c.416C>T (p.Thr139Met)
|
rs28933981
|
0.00177
|
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu)
|
rs116373169
|
0.00177
|
NM_005529.7(HSPG2):c.4916C>T (p.Thr1639Met)
|
rs142433309
|
0.00177
|
NM_000465.4(BARD1):c.33G>T (p.Gln11His)
|
rs143914387
|
0.00176
|
NM_001256789.3(CACNA1F):c.2204A>C (p.Asn735Thr)
|
rs141159097
|
0.00176
|
NM_002691.4(POLD1):c.773C>T (p.Thr258Met)
|
rs76131127
|
0.00176
|
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser)
|
rs146077918
|
0.00172
|
NM_002875.5(RAD51):c.449G>A (p.Arg150Gln)
|
rs121917739
|
0.00171
|
NM_004738.5(VAPB):c.510G>A (p.Met170Ile)
|
rs143144050
|
0.00170
|
NM_000059.4(BRCA2):c.4187A>G (p.Gln1396Arg)
|
rs55969723
|
0.00168
|
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His)
|
rs137854475
|
0.00168
|
NM_002878.4(RAD51D):c.568G>A (p.Ala190Thr)
|
rs80116829
|
0.00167
|
NM_000051.4(ATM):c.609C>T (p.Asp203=)
|
rs144709948
|
0.00166
|
NM_000051.4(ATM):c.7788+8G>T
|
rs112775908
|
0.00165
|
NM_177438.3(DICER1):c.20A>G (p.Gln7Arg)
|
rs117358479
|
0.00165
|
NM_207034.3(EDN3):c.670G>A (p.Ala224Thr)
|
rs11570351
|
0.00164
|
NM_005050.4(ABCD4):c.1411C>T (p.Arg471Trp)
|
rs45568335
|
0.00163
|
NM_020822.3(KCNT1):c.2729G>A (p.Arg910Gln)
|
rs151272083
|
0.00162
|
NM_001377265.1(MAPT):c.1505C>T (p.Ser502Phe)
|
rs143956882
|
0.00160
|
NM_000179.3(MSH6):c.3801+17T>C
|
rs3136365
|
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_000179.3(MSH6):c.431G>T (p.Ser144Ile)
|
rs3211299
|
0.00158
|
NM_000321.3(RB1):c.380+10C>G
|
rs187110786
|
0.00158
|
NM_178857.6(RP1L1):c.568C>T (p.Arg190Cys)
|
rs202110498
|
0.00158
|
NM_001372051.1(CASP8):c.803-2986C>G
|
rs372086843
|
0.00157
|
NM_004360.5(CDH1):c.164-45T>C
|
rs189978842
|
0.00155
|
NM_000124.4(ERCC6):c.4223A>C (p.Glu1408Ala)
|
rs61760167
|
0.00154
|
NM_001048174.2(MUTYH):c.1501C>A (p.Leu501Met)
|
rs3219496
|
0.00154
|
NM_080680.3(COL11A2):c.2336C>T (p.Pro779Leu)
|
rs150877886
|
0.00153
|
NM_003482.4(KMT2D):c.10256A>G (p.Asp3419Gly)
|
rs146044282
|
0.00152
|
NM_007294.4(BRCA1):c.4113G>A (p.Gly1371=)
|
rs147448807
|
0.00150
|
NM_152424.4(AMER1):c.401A>C (p.His134Pro)
|
rs146489129
|
0.00149
|
NM_001177316.2(SLC34A3):c.790G>A (p.Gly264Ser)
|
rs148072630
|
0.00148
|
NM_001849.4(COL6A2):c.2558G>A (p.Arg853Gln)
|
rs144830948
|
0.00148
|
NM_003865.2(HESX1):c.-276T>G
|
rs983243
|
0.00148
|
NM_001369268.1(ACAN):c.230G>A (p.Arg77His)
|
rs199701329
|
0.00147
|
NM_000059.4(BRCA2):c.3515C>T (p.Ser1172Leu)
|
rs80358600
|
0.00146
|
NM_002485.5(NBN):c.511A>G (p.Ile171Val)
|
rs61754966
|
0.00145
|
NM_004360.5(CDH1):c.2440-6C>G
|
rs139757930
|
0.00145
|
NM_006766.5(KAT6A):c.4952C>T (p.Pro1651Leu)
|
rs144417514
|
0.00145
|
NM_000335.5(SCN5A):c.3919C>T (p.Leu1307Phe)
|
rs41313031
|
0.00144
|
NM_000249.4(MLH1):c.2146G>A (p.Val716Met)
|
rs35831931
|
0.00143
|
NM_000251.3(MSH2):c.1387-8G>T
|
rs187525243
|
0.00143
|
NM_002691.4(POLD1):c.2967G>A (p.Thr989=)
|
rs3218752
|
0.00142
|
NM_000059.4(BRCA2):c.9634G>C (p.Gly3212Arg)
|
rs55775473
|
0.00141
|
NM_005431.2(XRCC2):c.40-16T>C
|
rs41274991
|
0.00141
|
NM_000057.4(BLM):c.2263A>G (p.Lys755Glu)
|
rs142551229
|
0.00140
|
NM_002691.4(POLD1):c.2577C>T (p.Gly859=)
|
rs149366027
|
0.00140
|
NM_015570.4(AUTS2):c.611A>G (p.Glu204Gly)
|
rs149961458
|
0.00140
|
NM_000051.4(ATM):c.1066-6T>G
|
rs201686625
|
0.00139
|
NM_000251.3(MSH2):c.1737A>G (p.Lys579=)
|
rs61756467
|
0.00138
|
NM_000051.4(ATM):c.998C>T (p.Ser333Phe)
|
rs28904919
|
0.00137
|
NM_001999.4(FBN2):c.2260G>A (p.Gly754Ser)
|
rs145259927
|
0.00137
|
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp)
|
rs1800709
|
0.00137
|
NM_002691.4(POLD1):c.2007-4G>A
|
rs202035484
|
0.00135
|
NM_000492.4(CFTR):c.91C>T (p.Arg31Cys)
|
rs1800073
|
0.00134
|
NM_058195.4(CDKN2A):c.194-3652G>C
|
rs531597737
|
0.00134
|
NM_194248.3(OTOF):c.5063C>T (p.Thr1688Met)
|
rs111033393
|
0.00133
|
NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=)
|
rs28897762
|
0.00132
|
NM_001330260.2(SCN8A):c.3822C>T (p.Val1274=)
|
rs187327463
|
0.00132
|
NM_001083962.2(TCF4):c.923-27T>G
|
rs368057502
|
0.00131
|
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile)
|
rs35719192
|
0.00130
|
NM_004360.5(CDH1):c.88C>A (p.Pro30Thr)
|
rs139866691
|
0.00129
|
NM_000059.4(BRCA2):c.-123G>T
|
rs55641815
|
0.00128
|
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser)
|
rs28897747
|
0.00127
|
NM_001042492.3(NF1):c.7584A>G (p.Gln2528=)
|
rs55865524
|
0.00127
|
NM_000051.4(ATM):c.6176C>T (p.Thr2059Ile)
|
rs144761622
|
0.00126
|
NM_000136.3(FANCC):c.632C>G (p.Pro211Arg)
|
rs140781259
|
0.00126
|
NM_000051.4(ATM):c.4473C>T (p.Phe1491=)
|
rs4988008
|
0.00125
|
NM_015443.4(KANSL1):c.2718T>G (p.Asn906Lys)
|
rs139615350
|
0.00125
|
NM_002473.6(MYH9):c.4198C>T (p.Arg1400Trp)
|
rs76368635
|
0.00123
|
NM_002878.4(RAD51D):c.263+1588A>G
|
rs180869630
|
0.00123
|
NM_006231.4(POLE):c.861T>A (p.Asp287Glu)
|
rs139075637
|
0.00122
|
NM_006432.5(NPC2):c.88G>A (p.Val30Met)
|
rs151220873
|
0.00122
|
NM_194248.3(OTOF):c.2381G>A (p.Arg794His)
|
rs80356592
|
0.00122
|
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp)
|
rs45478192
|
0.00121
|
NM_000256.3(MYBPC3):c.1564G>A (p.Ala522Thr)
|
rs11570082
|
0.00120
|
NM_002529.4(NTRK1):c.865C>A (p.Gln289Lys)
|
rs137979116
|
0.00118
|
NM_002968.3(SALL1):c.3794G>A (p.Gly1265Glu)
|
rs149302006
|
0.00118
|
NM_004463.3(FGD1):c.395G>A (p.Arg132Gln)
|
rs145644275
|
0.00117
|
NM_007294.4(BRCA1):c.591C>T (p.Cys197=)
|
rs1799965
|
0.00117
|
NM_000208.4(INSR):c.2243C>T (p.Ser748Leu)
|
rs143523271
|
0.00116
|
NM_002878.4(RAD51D):c.263+1509C>T
|
rs201506572
|
0.00116
|
NM_003072.5(SMARCA4):c.76G>A (p.Ala26Thr)
|
rs145867502
|
0.00116
|
NM_004612.4(TGFBR1):c.457G>A (p.Val153Ile)
|
rs56014374
|
0.00115
|
NM_000033.4(ABCD1):c.707G>A (p.Arg236His)
|
rs201455322
|
0.00114
|
NM_000038.6(APC):c.423-17T>A
|
rs534684461
|
0.00114
|
NM_032043.3(BRIP1):c.890A>G (p.Lys297Arg)
|
rs28997570
|
0.00113
|
NM_000123.4(ERCC5):c.1768G>A (p.Val590Ile)
|
rs4150318
|
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_001018113.3(FANCB):c.1769T>C (p.Phe590Ser)
|
rs142959373
|
0.00109
|
NM_058216.3(RAD51C):c.571+64C>A
|
rs181988623
|
0.00108
|
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr)
|
rs112287730
|
0.00107
|
NM_000059.4(BRCA2):c.9235G>A (p.Val3079Ile)
|
rs55933907
|
0.00106
|
NM_000271.5(NPC1):c.881+82G>A
|
rs562046566
|
0.00106
|
NM_015215.4(CAMTA1):c.4007C>T (p.Thr1336Ile)
|
rs137974312
|
0.00106
|
NM_199242.3(UNC13D):c.2542A>C (p.Ile848Leu)
|
rs144968313
|
0.00106
|
NM_199242.3(UNC13D):c.2983G>C (p.Ala995Pro)
|
rs138760432
|
0.00105
|
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_000059.4(BRCA2):c.7805+23G>A
|
rs113653200
|
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_000057.4(BLM):c.11T>C (p.Val4Ala)
|
rs144706057
|
0.00102
|
NM_000059.4(BRCA2):c.6057C>T (p.Asn2019=)
|
rs147961615
|
0.00102
|
NM_000352.6(ABCC8):c.3203C>T (p.Thr1068Met)
|
rs139524121
|
0.00102
|
NM_000051.4(ATM):c.2125-48T>C
|
rs371067508
|
0.00101
|
NM_000548.5(TSC2):c.275A>T (p.Glu92Val)
|
rs137853994
|
0.00101
|
NM_005263.5(GFI1):c.-14A>C
|
rs200972824
|
0.00101
|
NC_000022.11:g.28742014G>A
|
rs187164042
|
0.00100
|
NM_002691.4(POLD1):c.1620C>T (p.Gly540=)
|
rs140216790
|
0.00098
|
NM_004006.3(DMD):c.2261G>T (p.Gly754Val)
|
rs151242451
|
0.00098
|
NM_015570.4(AUTS2):c.385C>G (p.Leu129Val)
|
rs145480547
|
0.00098
|
NM_000059.4(BRCA2):c.2883G>A (p.Gln961=)
|
rs11571655
|
0.00097
|
NM_000179.3(MSH6):c.3802-22G>A
|
rs373409282
|
0.00097
|
NM_002382.5(MAX):c.172-6230G>A
|
rs148339628
|
0.00097
|
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu)
|
rs34231402
|
0.00096
|
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=)
|
rs28897711
|
0.00096
|
NM_001128425.2(MUTYH):c.36+214G>C
|
rs568514678
|
0.00096
|
NM_000038.6(APC):c.7514G>A (p.Arg2505Gln)
|
rs147549623
|
0.00093
|
NM_024757.5(EHMT1):c.737G>A (p.Arg246Gln)
|
rs144871446
|
0.00092
|
NM_000038.6(APC):c.835-24A>T
|
rs200399868
|
0.00091
|
NM_000136.3(FANCC):c.178G>A (p.Val60Ile)
|
rs138629441
|
0.00091
|
NM_000057.4(BLM):c.3592G>A (p.Val1198Met)
|
rs142928725
|
0.00090
|
NM_018060.4(IARS2):c.2122G>A (p.Glu708Lys)
|
rs143722284
|
0.00089
|
NM_025216.3(WNT10A):c.208C>T (p.Arg70Trp)
|
rs146460077
|
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_000535.7(PMS2):c.497T>C (p.Leu166Pro)
|
rs116349687
|
0.00088
|
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn)
|
rs41294980
|
0.00087
|
NM_001165963.4(SCN1A):c.1811G>A (p.Arg604His)
|
rs121918769
|
0.00087
|
NM_032444.4(SLX4):c.1372A>G (p.Lys458Glu)
|
rs149126845
|
0.00087
|
NM_000465.4(BARD1):c.216-13A>T
|
rs1272210676
|
0.00086
|
NM_001904.4(CTNNB1):c.860A>G (p.Asn287Ser)
|
rs35288908
|
0.00086
|
NM_181486.4(TBX5):c.316A>G (p.Ile106Val)
|
rs147710408
|
0.00086
|
NM_000264.5(PTCH1):c.1306G>A (p.Asp436Asn)
|
rs142274954
|
0.00083
|
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser)
|
rs111033243
|
0.00083
|
NM_001042492.3(NF1):c.3468C>T (p.Asn1156=)
|
rs147955381
|
0.00083
|
NM_003070.5(SMARCA2):c.4717G>A (p.Asp1573Asn)
|
rs61736899
|
0.00083
|
NM_020937.4(FANCM):c.3296G>A (p.Arg1099His)
|
rs139382267
|
0.00083
|
NM_000059.4(BRCA2):c.978C>A (p.Ser326Arg)
|
rs28897706
|
0.00082
|
NM_001202.6(BMP4):c.860G>A (p.Arg287His)
|
rs121912768
|
0.00082
|
NM_002907.4(RECQL):c.395-9C>T
|
rs560242370
|
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_000321.3(RB1):c.1129A>T (p.Thr377Ser)
|
rs146897002
|
0.00080
|
NM_201253.3(CRB1):c.3992G>A (p.Arg1331His)
|
rs62636285
|
0.00078
|
NM_000051.4(ATM):c.2096A>G (p.Glu699Gly)
|
rs147934285
|
0.00077
|
NM_001048174.2(MUTYH):c.1424G>A (p.Gly475Glu)
|
rs3219494
|
0.00076
|
NM_003482.4(KMT2D):c.3572C>T (p.Pro1191Leu)
|
rs112236653
|
0.00076
|
NM_032043.3(BRIP1):c.195A>G (p.Gln65=)
|
rs141436143
|
0.00076
|
NM_032043.3(BRIP1):c.3378A>C (p.Glu1126Asp)
|
rs145855459
|
0.00076
|
NM_000051.4(ATM):c.6988C>G (p.Leu2330Val)
|
rs148432863
|
0.00075
|
NM_000393.5(COL5A2):c.4295A>T (p.Asp1432Val)
|
rs141777954
|
0.00075
|
NM_002485.5(NBN):c.1354A>C (p.Thr452Pro)
|
rs141137543
|
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_058216.3(RAD51C):c.146-8A>G
|
rs201079501
|
0.00074
|
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met)
|
rs45517238
|
0.00073
|
NM_012062.5(DNM1L):c.1834A>T (p.Ile612Phe)
|
rs138133550
|
0.00073
|
NM_000249.4(MLH1):c.2104-11G>A
|
rs147984696
|
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_000548.5(TSC2):c.1819G>A (p.Ala607Thr)
|
rs45517203
|
0.00071
|
NM_001130145.3(YAP1):c.832C>T (p.Pro278Ser)
|
rs61746398
|
0.00071
|
NM_002427.4(MMP13):c.1372C>T (p.Arg458Cys)
|
rs142064825
|
0.00071
|
NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp)
|
rs61746008
|
0.00070
|
NM_000179.3(MSH6):c.3173-35C>T
|
rs186475107
|
0.00070
|
NM_007194.4(CHEK2):c.320-5T>A
|
rs121908700
|
0.00070
|
NM_004006.3(DMD):c.10262+1G>A
|
rs145603325
|
0.00069
|
NM_004360.5(CDH1):c.*746C>A
|
rs140240766
|
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_000548.5(TSC2):c.1378G>A (p.Ala460Thr)
|
rs137854154
|
0.00068
|
NM_001134407.3(GRIN2A):c.3827C>G (p.Ala1276Gly)
|
rs145063086
|
0.00067
|
NM_014336.5(AIPL1):c.905G>T (p.Arg302Leu)
|
rs62637015
|
0.00067
|
NM_001042492.3(NF1):c.7595C>T (p.Ala2532Val)
|
rs148154172
|
0.00066
|
NM_004006.3(DMD):c.4233+2C>T
|
rs147474070
|
0.00066
|
NM_007294.4(BRCA1):c.2733A>G (p.Gly911=)
|
rs1800740
|
0.00066
|
NM_007294.4(BRCA1):c.3024G>A (p.Met1008Ile)
|
rs1800704
|
0.00065
|
NM_007294.4(BRCA1):c.981A>G (p.Thr327=)
|
rs1800063
|
0.00065
|
NM_000179.3(MSH6):c.663A>C (p.Glu221Asp)
|
rs41557217
|
0.00064
|
NM_001110792.2(MECP2):c.626C>T (p.Thr209Met)
|
rs61749714
|
0.00064
|
NM_004360.5(CDH1):c.2520C>T (p.Ser840=)
|
rs140328601
|
0.00064
|
NM_007294.4(BRCA1):c.3302G>A (p.Ser1101Asn)
|
rs41293447
|
0.00064
|
NM_013275.6(ANKRD11):c.136G>A (p.Asp46Asn)
|
rs144947610
|
0.00064
|
NM_006231.4(POLE):c.4057A>G (p.Ser1353Gly)
|
rs141619382
|
0.00063
|
NM_007325.5(GRIA3):c.1181G>A (p.Arg394Gln)
|
rs138817389
|
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_005228.5(EGFR):c.3467A>C (p.His1156Pro)
|
rs149174093
|
0.00062
|
NM_000245.4(MET):c.467C>T (p.Ser156Leu)
|
rs56311081
|
0.00061
|
NM_001378120.1(MBD5):c.236G>A (p.Gly79Glu)
|
rs34995577
|
0.00061
|
NM_000033.4(ABCD1):c.757C>G (p.Leu253Val)
|
rs150151955
|
0.00060
|
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_000179.3(MSH6):c.1508C>G (p.Ser503Cys)
|
rs63750897
|
0.00059
|
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln)
|
rs143486492
|
0.00059
|
NM_002485.5(NBN):c.1777C>G (p.Pro593Ala)
|
rs146989944
|
0.00059
|
NM_002485.5(NBN):c.788T>C (p.Phe263Ser)
|
rs147626427
|
0.00059
|
NM_000492.4(CFTR):c.3717+45G>A
|
rs145743767
|
0.00058
|
NM_001042492.3(NF1):c.2033C>T (p.Pro678Leu)
|
rs17881753
|
0.00058
|
NM_007294.4(BRCA1):c.5348T>C (p.Met1783Thr)
|
rs55808233
|
0.00058
|
NM_144997.7(FLCN):c.871+47G>A
|
rs142934950
|
0.00058
|
NM_004360.5(CDH1):c.2439+10C>T
|
rs35236080
|
0.00057
|
NM_000038.6(APC):c.3173A>G (p.Asp1058Gly)
|
rs148725540
|
0.00056
|
NM_000051.4(ATM):c.6543G>T (p.Glu2181Asp)
|
rs138828590
|
0.00056
|
NM_000057.4(BLM):c.968A>G (p.Lys323Arg)
|
rs146504061
|
0.00056
|
NM_000077.5(CDKN2A):c.150+280C>T
|
rs150201743
|
0.00056
|
NM_002691.4(POLD1):c.1138-8A>G
|
rs41544624
|
0.00056
|
NM_020975.6(RET):c.262A>G (p.Ile88Val)
|
rs141679950
|
0.00056
|
NM_206933.4(USH2A):c.4758+3A>G
|
rs117798425
|
0.00056
|
NM_000245.4(MET):c.71G>A (p.Gly24Glu)
|
rs180985111
|
0.00055
|
NM_000702.4(ATP1A2):c.1474G>A (p.Glu492Lys)
|
rs142348542
|
0.00055
|
NM_001330311.2(DVL1):c.1502G>C (p.Cys501Ser)
|
rs139708222
|
0.00055
|
NM_002907.4(RECQL):c.406G>A (p.Val136Ile)
|
rs138278747
|
0.00055
|
NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn)
|
rs28897716
|
0.00054
|
NM_000059.4(BRCA2):c.7435+6G>A
|
rs81002852
|
0.00053
|
NM_000455.5(STK11):c.426C>T (p.Ser142=)
|
rs758448869
|
0.00053
|
NM_172201.2(KCNE2):c.40G>A (p.Val14Ile)
|
rs142153692
|
0.00053
|
NM_000032.5(ALAS2):c.653G>A (p.Arg218His)
|
rs185504937
|
0.00052
|
NM_000051.4(ATM):c.8592C>T (p.Tyr2864=)
|
rs56025670
|
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_001048174.2(MUTYH):c.841C>T (p.Arg281Cys)
|
rs138089183
|
0.00051
|
NM_020975.6(RET):c.405C>T (p.Gly135=)
|
rs142345108
|
0.00051
|
NM_198578.4(LRRK2):c.4111A>G (p.Ile1371Val)
|
rs17466213
|
0.00050
|
NM_001211.6(BUB1B):c.1649G>A (p.Arg550Gln)
|
rs28989187
|
0.00049
|
NM_001371623.1(TCOF1):c.1552G>A (p.Gly518Arg)
|
rs201537012
|
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_000179.3(MSH6):c.2667G>T (p.Gln889His)
|
rs149945495
|
0.00048
|
NM_001009944.3(PKD1):c.4563T>C (p.Gly1521=)
|
rs143843155
|
0.00048
|
NM_022725.4(FANCF):c.241G>T (p.Ala81Ser)
|
rs145057187
|
0.00048
|
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_006514.4(SCN10A):c.4984G>A (p.Gly1662Ser)
|
rs151090729
|
0.00047
|
NM_020975.6(RET):c.3112A>G (p.Thr1038Ala)
|
rs201740483
|
0.00047
|
NM_006218.4(PIK3CA):c.1747-9C>T
|
rs201779641
|
0.00046
|
NM_013275.6(ANKRD11):c.5632T>C (p.Ser1878Pro)
|
rs143743958
|
0.00046
|
NM_017763.6(RNF43):c.575C>T (p.Pro192Leu)
|
rs139557480
|
0.00046
|
NM_000059.4(BRCA2):c.7976+12G>A
|
rs81002827
|
0.00045
|
NM_001018115.3(FANCD2):c.182C>T (p.Thr61Met)
|
rs35110529
|
0.00045
|
NM_001048174.2(MUTYH):c.914-9C>T
|
rs3219488
|
0.00045
|
NM_001382430.1(AKT1):c.138C>A (p.Asp46Glu)
|
rs146875699
|
0.00045
|
NM_002485.5(NBN):c.-26G>A
|
rs201392451
|
0.00045
|
NM_002691.4(POLD1):c.2052G>C (p.Gln684His)
|
rs144143245
|
0.00045
|
NM_002907.4(RECQL):c.1088A>G (p.Asn363Ser)
|
rs138663409
|
0.00045
|
NM_015559.3(SETBP1):c.3962G>A (p.Arg1321His)
|
rs149638556
|
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_000251.3(MSH2):c.1680T>C (p.Asn560=)
|
rs200056411
|
0.00043
|
NM_001358530.2(MOCS1):c.1015C>T (p.Arg339Trp)
|
rs148579886
|
0.00043
|
NM_004655.4(AXIN2):c.733C>T (p.Pro245Ser)
|
rs62640028
|
0.00043
|
NM_000048.4(ASL):c.392C>T (p.Thr131Met)
|
rs143793815
|
0.00042
|
NM_001134407.3(GRIN2A):c.2852G>T (p.Gly951Val)
|
rs139795367
|
0.00042
|
NM_000245.4(MET):c.103A>T (p.Met35Leu)
|
rs375353223
|
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_000535.7(PMS2):c.936G>A (p.Met312Ile)
|
rs139194813
|
0.00041
|
NM_002878.4(RAD51D):c.932T>A (p.Ile311Asn)
|
rs145309168
|
0.00041
|
NM_032043.3(BRIP1):c.2220G>T (p.Gln740His)
|
rs45589637
|
0.00041
|
NM_000038.6(APC):c.2805C>T (p.Tyr935=)
|
rs137854575
|
0.00040
|
NM_000249.4(MLH1):c.198C>T (p.Thr66=)
|
rs61751642
|
0.00040
|
NM_000059.4(BRCA2):c.516+54T>C
|
rs368799999
|
0.00039
|
NM_000245.4(MET):c.2715C>T (p.Ser905=)
|
rs45572835
|
0.00039
|
NM_000314.8(PTEN):c.802-34C>A
|
rs531071483
|
0.00039
|
NM_002354.2(EPCAM):c.*362A>G
|
rs539981178
|
0.00039
|
NM_007294.4(BRCA1):c.301+146A>C
|
rs571713225
|
0.00039
|
NM_144773.4(PROKR2):c.889G>A (p.Val297Ile)
|
rs139399061
|
0.00039
|
NM_000077.5(CDKN2A):c.457+83C>T
|
rs560686386
|
0.00038
|
NM_000136.3(FANCC):c.1374A>C (p.Arg458Ser)
|
rs56394801
|
0.00038
|
NM_000492.4(CFTR):c.2620-6T>C
|
rs371315682
|
0.00038
|
NM_000249.4(MLH1):c.977T>C (p.Val326Ala)
|
rs63751049
|
0.00037
|
NM_002878.4(RAD51D):c.26G>C (p.Cys9Ser)
|
rs140825795
|
0.00037
|
NM_002907.4(RECQL):c.401C>T (p.Thr134Ile)
|
rs150306543
|
0.00037
|
NM_003738.5(PTCH2):c.1780G>A (p.Ala594Thr)
|
rs147669300
|
0.00037
|
NM_000038.6(APC):c.6857C>T (p.Ala2286Val)
|
rs200587641
|
0.00036
|
NM_002025.4(AFF2):c.2780G>A (p.Arg927His)
|
rs140927355
|
0.00036
|
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe)
|
rs56009889
|
0.00035
|
NM_000059.4(BRCA2):c.9924C>T (p.Tyr3308=)
|
rs4987049
|
0.00035
|
NM_000208.4(INSR):c.151G>A (p.Glu51Lys)
|
rs140852238
|
0.00035
|
NM_003579.4(RAD54L):c.888C>T (p.Asp296=)
|
rs145556724
|
0.00035
|
NM_024675.4(PALB2):c.1470C>T (p.Pro490=)
|
rs45612837
|
0.00035
|
NM_032444.4(SLX4):c.5248G>T (p.Ala1750Ser)
|
rs771897046
|
0.00035
|
NM_000038.6(APC):c.607C>G (p.Gln203Glu)
|
rs141576417
|
0.00034
|
NM_001042492.3(NF1):c.2850+17T>C
|
rs1410636379
|
0.00034
|
NM_002691.4(POLD1):c.1092G>C (p.Leu364=)
|
rs139883454
|
0.00034
|
NM_005228.5(EGFR):c.3629C>T (p.Ala1210Val)
|
rs35918369
|
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_020975.6(RET):c.1158G>A (p.Ala386=)
|
rs373540097
|
0.00034
|
NM_024426.6(WT1):c.662-6C>A
|
rs372418954
|
0.00034
|
NM_000251.3(MSH2):c.2154A>G (p.Gln718=)
|
rs63750810
|
0.00033
|
NM_002485.5(NBN):c.425A>G (p.Asn142Ser)
|
rs769414
|
0.00033
|
NM_000038.6(APC):c.2232T>G (p.Ser744=)
|
rs145751759
|
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_000536.4(RAG2):c.644C>T (p.Thr215Ile)
|
rs35691292
|
0.00032
|
NM_001371928.1(AHDC1):c.4585C>T (p.Arg1529Cys)
|
rs200178921
|
0.00032
|
NM_003466.4(PAX8):c.215G>A (p.Arg72Gln)
|
rs769138605
|
0.00032
|
NM_007294.4(BRCA1):c.4186-128A>T
|
rs528390541
|
0.00032
|
NM_002529.4(NTRK1):c.482G>A (p.Arg161His)
|
rs150271893
|
0.00031
|
NM_004656.4(BAP1):c.1962A>C (p.Val654=)
|
rs148624125
|
0.00031
|
NM_005188.4(CBL):c.1287C>T (p.Ile429=)
|
rs148368481
|
0.00031
|
NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys)
|
rs28897687
|
0.00031
|
NM_207122.2(EXT2):c.260T>G (p.Met87Arg)
|
rs140075817
|
0.00031
|
NM_000268.4(NF2):c.886-15C>T
|
rs200837904
|
0.00030
|
NM_000535.7(PMS2):c.706-3C>T
|
rs1229860023
|
0.00030
|
NM_002691.4(POLD1):c.714G>A (p.Thr238=)
|
rs149096523
|
0.00030
|
NM_003072.5(SMARCA4):c.4179G>A (p.Glu1393=)
|
rs201879930
|
0.00030
|
NM_000061.3(BTK):c.1252T>C (p.Tyr418His)
|
rs144079566
|
0.00029
|
NM_000138.5(FBN1):c.3058A>G (p.Thr1020Ala)
|
rs111801777
|
0.00029
|
NM_000249.4(MLH1):c.1897-17C>G
|
rs2308316
|
0.00029
|
NM_000268.4(NF2):c.1340+8G>T
|
rs370604189
|
0.00029
|
NM_000273.3(GPR143):c.371A>G (p.Gln124Arg)
|
rs62635032
|
0.00029
|
NM_000321.3(RB1):c.929G>A (p.Gly310Glu)
|
rs200844292
|
0.00029
|
NM_001002294.3(FMO3):c.341A>G (p.Asn114Ser)
|
rs186763441
|
0.00029
|
NM_001042492.3(NF1):c.5906A>T (p.Gln1969Leu)
|
rs143502927
|
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_000038.6(APC):c.2593C>T (p.Pro865Ser)
|
rs192620988
|
0.00028
|
NM_000038.6(APC):c.3511C>T (p.Arg1171Cys)
|
rs201830995
|
0.00028
|
NM_004360.5(CDH1):c.892G>A (p.Ala298Thr)
|
rs142822590
|
0.00028
|
NM_022168.4(IFIH1):c.2016del (p.Asp673fs)
|
rs773033563
|
0.00028
|
NM_000136.3(FANCC):c.166-7T>C
|
rs369052148
|
0.00027
|
NM_000455.5(STK11):c.*8C>T
|
rs587782259
|
0.00027
|
NM_000455.5(STK11):c.-137C>T
|
rs527710714
|
0.00027
|
NM_000059.4(BRCA2):c.4584C>T (p.Ser1528=)
|
rs80359788
|
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_000535.7(PMS2):c.1004A>G (p.Asn335Ser)
|
rs200513014
|
0.00026
|
NM_000760.4(CSF3R):c.272A>G (p.His91Arg)
|
rs148307285
|
0.00026
|
NM_001367721.1(CASK):c.1186C>T (p.Pro396Ser)
|
rs137852820
|
0.00026
|
NM_005228.5(EGFR):c.2543C>T (p.Pro848Leu)
|
rs148934350
|
0.00026
|
NM_000112.4(SLC26A2):c.229A>C (p.Asn77His)
|
rs76784312
|
0.00025
|
NM_001018115.3(FANCD2):c.1143C>T (p.Asp381=)
|
rs376349741
|
0.00025
|
NM_004655.4(AXIN2):c.1059+8C>T
|
rs367595502
|
0.00025
|
NM_000059.4(BRCA2):c.317-22C>T
|
rs81002794
|
0.00024
|
NM_000548.5(TSC2):c.1443+4C>T
|
rs45517172
|
0.00024
|
NM_006231.4(POLE):c.2683G>A (p.Ala895Thr)
|
rs201115064
|
0.00024
|
NM_007294.4(BRCA1):c.3929C>A (p.Thr1310Lys)
|
rs80357257
|
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_058216.3(RAD51C):c.145+12T>G
|
rs377297129
|
0.00024
|
NM_002878.4(RAD51D):c.263+1605G>A
|
rs147933658
|
0.00023
|
NM_007294.4(BRCA1):c.1486C>T (p.Arg496Cys)
|
rs28897676
|
0.00023
|
NM_020975.6(RET):c.874G>A (p.Val292Met)
|
rs34682185
|
0.00023
|
NM_000059.4(BRCA2):c.-197A>C
|
rs370721506
|
0.00022
|
NM_000059.4(BRCA2):c.9038C>T (p.Thr3013Ile)
|
rs28897755
|
0.00022
|
NM_000249.4(MLH1):c.307-19A>G
|
rs121909451
|
0.00022
|
NM_000400.4(ERCC2):c.1905G>A (p.Ala635=)
|
rs145835916
|
0.00022
|
NM_004006.3(DMD):c.8138A>G (p.Asn2713Ser)
|
rs758633794
|
0.00022
|
NC_000001.11:g.172658929A>G
|
rs895958192
|
0.00021
|
NC_000017.11:g.58692541G>A
|
rs545213879
|
0.00021
|
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp)
|
rs80358755
|
0.00021
|
NM_000245.4(MET):c.3632+42C>G
|
rs376183825
|
0.00021
|
NM_000335.5(SCN5A):c.4591G>A (p.Val1531Ile)
|
rs199473618
|
0.00021
|
NM_000465.4(BARD1):c.1347A>G (p.Gln449=)
|
rs373257776
|
0.00021
|
NM_002878.4(RAD51D):c.983C>T (p.Thr328Ile)
|
rs138969595
|
0.00021
|
NM_004006.3(DMD):c.2827C>T (p.Arg943Cys)
|
rs199986217
|
0.00021
|
NM_004360.5(CDH1):c.670C>T (p.Arg224Cys)
|
rs200310662
|
0.00021
|
NM_006231.4(POLE):c.561C>T (p.Tyr187=)
|
rs143938822
|
0.00021
|
NM_007294.4(BRCA1):c.5411T>A (p.Val1804Asp)
|
rs80356920
|
0.00021
|
NM_014225.6(PPP2R1A):c.75T>G (p.Val25=)
|
rs587778622
|
0.00021
|
NM_024675.4(PALB2):c.656A>G (p.Asp219Gly)
|
rs45594034
|
0.00021
|
NM_000059.4(BRCA2):c.1385A>G (p.Glu462Gly)
|
rs56403624
|
0.00020
|
NM_000059.4(BRCA2):c.5710C>G (p.Leu1904Val)
|
rs55875643
|
0.00020
|
NM_000059.4(BRCA2):c.6803G>A (p.Arg2268Lys)
|
rs80358906
|
0.00020
|
NM_001369268.1(ACAN):c.913C>T (p.Arg305Cys)
|
rs372895171
|
0.00020
|
NM_000051.4(ATM):c.1272T>C (p.Pro424=)
|
rs35578748
|
0.00019
|
NM_000051.4(ATM):c.4060C>A (p.Pro1354Thr)
|
rs145119475
|
0.00019
|
NM_000059.4(BRCA2):c.1123C>T (p.Pro375Ser)
|
rs80358408
|
0.00019
|
NM_000059.4(BRCA2):c.5612G>A (p.Ser1871Asn)
|
rs80358782
|
0.00019
|
NM_000059.4(BRCA2):c.7805+13A>G
|
rs149769332
|
0.00019
|
NM_000059.4(BRCA2):c.8487+8G>A
|
rs81002838
|
0.00019
|
NM_000077.5(CDKN2A):c.457+1129C>T
|
rs774962789
|
0.00019
|
NM_000251.3(MSH2):c.138C>G (p.His46Gln)
|
rs33946261
|
0.00019
|
NM_001165963.4(SCN1A):c.3899C>T (p.Thr1300Ile)
|
rs146878122
|
0.00019
|
NM_001365536.1(SCN9A):c.2192T>A (p.Ile731Lys)
|
rs200945460
|
0.00019
|
NM_002691.4(POLD1):c.2007-5C>T
|
rs199506387
|
0.00019
|
NM_005228.5(EGFR):c.1557G>T (p.Glu519Asp)
|
rs116057045
|
0.00019
|
NM_005633.4(SOS1):c.1705C>G (p.Leu569Val)
|
rs200786705
|
0.00019
|
NM_014467.3(SRPX2):c.449C>T (p.Ser150Phe)
|
rs373847965
|
0.00019
|
NM_000038.6(APC):c.4237A>G (p.Met1413Val)
|
rs141519952
|
0.00018
|
NM_000038.6(APC):c.6637A>G (p.Met2213Val)
|
rs186926737
|
0.00018
|
NM_000059.4(BRCA2):c.7976+23C>T
|
rs183623188
|
0.00018
|
NM_000546.6(TP53):c.1014C>T (p.Phe338=)
|
rs150293825
|
0.00018
|
NM_001048174.2(MUTYH):c.1102+9A>T
|
rs587780742
|
0.00018
|
NM_002878.4(RAD51D):c.39C>G (p.Thr13=)
|
rs146448657
|
0.00018
|
NM_004304.5(ALK):c.4407G>A (p.Pro1469=)
|
rs372471601
|
0.00018
|
NM_005236.3(ERCC4):c.1606G>C (p.Val536Leu)
|
rs143347563
|
0.00018
|
NM_006231.4(POLE):c.1597G>A (p.Val533Met)
|
rs374140892
|
0.00018
|
NM_006231.4(POLE):c.6751T>C (p.Phe2251Leu)
|
rs373768478
|
0.00018
|
NM_198253.3(TERT):c.838G>A (p.Glu280Lys)
|
rs199701877
|
0.00018
|
NC_000012.12:g.57752476A>G
|
rs865902881
|
0.00017
|
NM_000335.5(SCN5A):c.80G>A (p.Arg27His)
|
rs199473045
|
0.00017
|
NM_007294.4(BRCA1):c.3748G>A (p.Glu1250Lys)
|
rs28897686
|
0.00017
|
NM_007294.4(BRCA1):c.4132G>A (p.Val1378Ile)
|
rs28897690
|
0.00017
|
NM_020937.4(FANCM):c.5848T>G (p.Leu1950Val)
|
rs146436929
|
0.00017
|
NM_024675.4(PALB2):c.2135C>T (p.Ala712Val)
|
rs141458731
|
0.00017
|
NM_000038.6(APC):c.6510A>C (p.Pro2170=)
|
rs138571760
|
0.00016
|
NM_000077.5(CDKN2A):c.384G>A (p.Arg128=)
|
rs199901898
|
0.00016
|
NM_000135.4(FANCA):c.3348+7G>T
|
rs185527578
|
0.00016
|
NM_000179.3(MSH6):c.3160A>T (p.Ile1054Phe)
|
rs267608075
|
0.00016
|
NM_000245.4(MET):c.4087G>A (p.Ala1363Thr)
|
rs45578433
|
0.00016
|
NM_000321.3(RB1):c.113G>A (p.Gly38Asp)
|
rs766529534
|
0.00016
|
NM_000455.5(STK11):c.-461G>A
|
rs552610464
|
0.00016
|
NM_000535.7(PMS2):c.2437C>T (p.Arg813Trp)
|
rs375968016
|
0.00016
|
NM_001018115.3(FANCD2):c.1118C>T (p.Ser373Leu)
|
rs372534421
|
0.00016
|
NM_001165963.4(SCN1A):c.5870A>G (p.Glu1957Gly)
|
rs121918802
|
0.00016
|
NM_001370259.2(MEN1):c.1080C>T (p.Ile360=)
|
rs147331514
|
0.00016
|
NM_002691.4(POLD1):c.2337G>A (p.Ala779=)
|
rs147108748
|
0.00016
|
NM_002691.4(POLD1):c.353C>T (p.Ser118Phe)
|
rs780604625
|
0.00016
|
NM_006231.4(POLE):c.154C>T (p.Arg52Trp)
|
rs115452881
|
0.00016
|
NM_000249.4(MLH1):c.1820T>A (p.Leu607His)
|
rs41295284
|
0.00015
|
NM_001079668.3(NKX2-1):c.78-151A>G
|
rs1003307358
|
0.00015
|
NM_006662.3(SRCAP):c.8500G>A (p.Gly2834Arg)
|
rs146421389
|
0.00015
|
NM_014795.4(ZEB2):c.10C>G (p.Pro4Ala)
|
rs146394306
|
0.00015
|
NM_032444.4(SLX4):c.5249C>T (p.Ala1750Val)
|
rs745421287
|
0.00015
|
NM_000038.6(APC):c.6609T>C (p.Val2203=)
|
rs149328018
|
0.00014
|
NM_000051.4(ATM):c.2927T>C (p.Val976Ala)
|
rs146145357
|
0.00014
|
NM_000059.4(BRCA2):c.4061C>T (p.Thr1354Met)
|
rs80358656
|
0.00014
|
NM_000059.4(BRCA2):c.502C>A (p.Pro168Thr)
|
rs80358726
|
0.00014
|
NM_000321.3(RB1):c.1156A>G (p.Met386Val)
|
rs564780653
|
0.00014
|
NM_000455.5(STK11):c.920+12C>T
|
rs186518799
|
0.00014
|
NM_002907.4(RECQL):c.1465A>G (p.Ile489Val)
|
rs146077019
|
0.00014
|
NM_007194.4(CHEK2):c.1489G>A (p.Asp497Asn)
|
rs143965148
|
0.00014
|
NM_018062.4(FANCL):c.1021-6T>C
|
rs377052216
|
0.00014
|
NM_032043.3(BRIP1):c.-30-3T>C
|
rs370728413
|
0.00014
|
NM_000051.4(ATM):c.8671+9T>G
|
rs200190537
|
0.00013
|
NM_000244.4(MEN1):c.-47A>G
|
rs1035192873
|
0.00013
|
NM_000535.7(PMS2):c.255G>A (p.Leu85=)
|
rs200491279
|
0.00013
|
NM_002907.4(RECQL):c.468T>G (p.Ile156Met)
|
rs777214281
|
0.00013
|
NM_004006.3(DMD):c.821A>G (p.Tyr274Cys)
|
rs745868830
|
0.00013
|
NM_004360.5(CDH1):c.2635G>A (p.Gly879Ser)
|
rs200911775
|
0.00013
|
NM_004380.3(CREBBP):c.5776C>G (p.Arg1926Gly)
|
rs778915687
|
0.00013
|
NM_021728.4(OTX2):c.641C>A (p.Thr214Asn)
|
rs150982073
|
0.00013
|
NM_000038.6(APC):c.450A>G (p.Lys150=)
|
rs116020626
|
0.00012
|
NM_000059.4(BRCA2):c.3055C>G (p.Leu1019Val)
|
rs55638633
|
0.00012
|
NM_000249.4(MLH1):c.1050A>G (p.Pro350=)
|
rs137937003
|
0.00012
|
NM_000521.4(HEXB):c.1627G>A (p.Ala543Thr)
|
rs121907984
|
0.00012
|
NM_001103.4(ACTN2):c.1748A>G (p.Glu583Gly)
|
rs200631005
|
0.00012
|
NM_002025.4(AFF2):c.1834C>G (p.His612Asp)
|
rs376847375
|
0.00012
|
NM_004656.4(BAP1):c.1408G>A (p.Gly470Arg)
|
rs576538858
|
0.00012
|
NM_005236.3(ERCC4):c.2647G>A (p.Glu883Lys)
|
rs201652412
|
0.00012
|
NM_006231.4(POLE):c.6674G>A (p.Arg2225His)
|
rs538875477
|
0.00012
|
NM_007194.4(CHEK2):c.410G>A (p.Arg137Gln)
|
rs368570187
|
0.00012
|
NM_020937.4(FANCM):c.5832G>T (p.Leu1944Phe)
|
rs201017015
|
0.00012
|
NM_000051.4(ATM):c.5890A>G (p.Lys1964Glu)
|
rs201963507
|
0.00011
|
NM_000059.4(BRCA2):c.1272A>G (p.Ser424=)
|
rs587780531
|
0.00011
|
NM_000059.4(BRCA2):c.9501+9A>C
|
rs81002867
|
0.00011
|
NM_000136.3(FANCC):c.817G>A (p.Glu273Lys)
|
rs143181565
|
0.00011
|
NM_000179.3(MSH6):c.124C>T (p.Pro42Ser)
|
rs34014629
|
0.00011
|
NM_000268.4(NF2):c.999+15G>A
|
rs367716680
|
0.00011
|
NM_000455.5(STK11):c.1038C>T (p.Gly346=)
|
rs767565606
|
0.00011
|
NM_000455.5(STK11):c.825G>A (p.Pro275=)
|
rs202011521
|
0.00011
|
NM_001048174.2(MUTYH):c.1034C>T (p.Ala345Val)
|
rs35352891
|
0.00011
|
NM_001429.4(EP300):c.2351C>T (p.Pro784Leu)
|
rs201480900
|
0.00011
|
NM_002691.4(POLD1):c.432C>T (p.Phe144=)
|
rs550836711
|
0.00011
|
NM_006218.4(PIK3CA):c.168C>T (p.Tyr56=)
|
rs200868796
|
0.00011
|
NM_007294.4(BRCA1):c.1905T>C (p.Asn635=)
|
rs369373293
|
0.00011
|
NM_007294.4(BRCA1):c.2002C>T (p.Leu668Phe)
|
rs80357250
|
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_022895.3(C12orf43):c.*2096C>T
|
rs571134960
|
0.00011
|
NM_000038.6(APC):c.388A>G (p.Ser130Gly)
|
rs150973053
|
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_000179.3(MSH6):c.1875C>T (p.Ser625=)
|
rs63749886
|
0.00010
|
NM_000251.3(MSH2):c.1386+23T>G
|
rs747646424
|
0.00010
|
NM_001048174.2(MUTYH):c.-6-7G>A
|
rs780029247
|
0.00010
|
NM_001754.5(RUNX1):c.*4188G>C
|
rs761390141
|
0.00010
|
NM_002878.4(RAD51D):c.137C>G (p.Ser46Cys)
|
rs587780102
|
0.00010
|
NM_006231.4(POLE):c.6531+6G>T
|
rs774747998
|
0.00010
|
NM_033343.4(LHX4):c.776G>A (p.Arg259Gln)
|
rs375216188
|
0.00010
|
NM_000051.4(ATM):c.2778A>G (p.Lys926=)
|
rs372569168
|
0.00009
|
NM_000051.4(ATM):c.4167A>G (p.Thr1389=)
|
rs183214437
|
0.00009
|
NM_000051.4(ATM):c.4414T>G (p.Leu1472Val)
|
rs539676759
|
0.00009
|
NM_000059.4(BRCA2):c.6338A>G (p.Asn2113Ser)
|
rs80358874
|
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.2318C>T (p.Pro773Leu)
|
rs771333219
|
0.00009
|
NM_000249.4(MLH1):c.1808C>G (p.Pro603Arg)
|
rs63750876
|
0.00009
|
NM_000251.3(MSH2):c.2802G>A (p.Thr934=)
|
rs150259097
|
0.00009
|
NM_000465.4(BARD1):c.1059C>G (p.Pro353=)
|
rs368649242
|
0.00009
|
NM_000465.4(BARD1):c.1904-412A>T
|
rs536758903
|
0.00009
|
NM_002691.4(POLD1):c.1182C>T (p.Thr394=)
|
rs377462923
|
0.00009
|
NM_002691.4(POLD1):c.1596C>T (p.Ala532=)
|
rs550441767
|
0.00009
|
NM_004006.3(DMD):c.4072-106G>A
|
rs372444729
|
0.00009
|
NM_007194.4(CHEK2):c.*7T>C
|
rs121908710
|
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_022464.5(SIL1):c.274C>T (p.Arg92Trp)
|
rs149242794
|
0.00009
|
NM_198253.3(TERT):c.2001C>T (p.Tyr667=)
|
rs758494245
|
0.00009
|
NR_136154.1(PMS2):n.13T>C
|
rs746329908
|
0.00009
|
NM_000059.4(BRCA2):c.517-4C>G
|
rs81002804
|
0.00008
|
NM_001128840.3(CACNA1D):c.1722G>A (p.Met574Ile)
|
rs373740752
|
0.00008
|
NM_002907.4(RECQL):c.386G>A (p.Cys129Tyr)
|
rs187203579
|
0.00008
|
NM_005263.5(GFI1):c.1250C>T (p.Thr417Met)
|
rs777241871
|
0.00008
|
NM_024675.4(PALB2):c.2509G>A (p.Glu837Lys)
|
rs587778587
|
0.00008
|
NM_000033.4(ABCD1):c.1840G>A (p.Gly614Ser)
|
rs146525445
|
0.00007
|
NM_000051.4(ATM):c.749G>A (p.Arg250Gln)
|
rs56123940
|
0.00007
|
NM_000059.4(BRCA2):c.3568C>T (p.Arg1190Trp)
|
rs80358604
|
0.00007
|
NM_000245.4(MET):c.3218C>T (p.Pro1073Leu)
|
rs370529693
|
0.00007
|
NM_000535.7(PMS2):c.1280G>A (p.Arg427His)
|
rs112902065
|
0.00007
|
NM_000535.7(PMS2):c.384G>A (p.Ser128=)
|
rs371342884
|
0.00007
|
NM_000548.5(TSC2):c.1656A>G (p.Ala552=)
|
rs373515515
|
0.00007
|
NM_001148.6(ANK2):c.11683G>A (p.Val3895Met)
|
rs72556370
|
0.00007
|
NM_002834.5(PTPN11):c.1678C>T (p.Leu560Phe)
|
rs397516797
|
0.00007
|
NM_005228.5(EGFR):c.1774G>A (p.Val592Ile)
|
rs144943614
|
0.00007
|
NM_006231.4(POLE):c.6331-8C>T
|
rs769766403
|
0.00007
|
NM_007294.4(BRCA1):c.3783A>G (p.Leu1261=)
|
rs80356831
|
0.00007
|
NM_007294.4(BRCA1):c.4358-48A>G
|
rs200393646
|
0.00007
|
NM_020975.6(RET):c.1942G>A (p.Val648Ile)
|
rs77711105
|
0.00007
|
NM_024408.4(NOTCH2):c.751+325G>T
|
rs782464243
|
0.00007
|
NM_080632.3(UPF3B):c.1101G>C (p.Lys367Asn)
|
rs199727706
|
0.00007
|
NM_177438.3(DICER1):c.1692G>A (p.Ala564=)
|
rs143117334
|
0.00007
|
NM_000051.4(ATM):c.5352C>T (p.Asn1784=)
|
rs140641762
|
0.00006
|
NM_000057.4(BLM):c.2898C>G (p.Leu966=)
|
rs201220226
|
0.00006
|
NM_000057.4(BLM):c.3934G>A (p.Ala1312Thr)
|
rs527291754
|
0.00006
|
NM_000059.4(BRCA2):c.1096T>G (p.Leu366Val)
|
rs587779357
|
0.00006
|
NM_000059.4(BRCA2):c.3715A>G (p.Lys1239Glu)
|
rs374191973
|
0.00006
|
NM_000059.4(BRCA2):c.7050C>T (p.Thr2350=)
|
rs587780870
|
0.00006
|
NM_000179.3(MSH6):c.1050C>T (p.Ala350=)
|
rs730881802
|
0.00006
|
NM_000249.4(MLH1):c.1360G>C (p.Gly454Arg)
|
rs63750527
|
0.00006
|
NM_000249.4(MLH1):c.1989+37T>C
|
rs374195343
|
0.00006
|
NM_000249.4(MLH1):c.207+523G>A
|
rs760066426
|
0.00006
|
NM_000249.4(MLH1):c.955G>A (p.Glu319Lys)
|
rs63750796
|
0.00006
|
NM_000256.3(MYBPC3):c.2761C>G (p.Gln921Glu)
|
rs367729718
|
0.00006
|
NM_000284.4(PDHA1):c.16G>A (p.Ala6Thr)
|
rs768396832
|
0.00006
|
NM_000465.4(BARD1):c.1973G>A (p.Arg658His)
|
rs377227840
|
0.00006
|
NM_001083116.3(PRF1):c.632C>T (p.Ala211Val)
|
rs368524364
|
0.00006
|
NM_001184880.2(PCDH19):c.2873G>A (p.Arg958Gln)
|
rs748581653
|
0.00006
|
NM_001267550.2(TTN):c.-71G>A
|
rs368880755
|
0.00006
|
NM_001358530.2(MOCS1):c.1468C>T (p.Arg490Trp)
|
rs201889779
|
0.00006
|
NM_002485.5(NBN):c.1198G>A (p.Ala400Thr)
|
rs551602980
|
0.00006
|
NM_002878.4(RAD51D):c.263+7G>A
|
rs56218020
|
0.00006
|
NM_002878.4(RAD51D):c.715C>T (p.Arg239Trp)
|
rs770250516
|
0.00006
|
NM_002878.4(RAD51D):c.957G>A (p.Gln319=)
|
rs147669627
|
0.00006
|
NM_002907.4(RECQL):c.17-15C>T
|
rs200928682
|
0.00006
|
NM_003466.4(PAX8):c.1028A>G (p.Asn343Ser)
|
rs374652916
|
0.00006
|
NM_004360.5(CDH1):c.393C>T (p.Ser131=)
|
rs145430811
|
0.00006
|
NM_004933.3(CDH15):c.568C>T (p.Arg190Trp)
|
rs137923863
|
0.00006
|
NM_004958.4(MTOR):c.889G>A (p.Asp297Asn)
|
rs141936187
|
0.00006
|
NM_005431.2(XRCC2):c.39+8C>G
|
rs200363289
|
0.00006
|
NM_006231.4(POLE):c.3054C>T (p.Tyr1018=)
|
rs201249963
|
0.00006
|
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu)
|
rs587780180
|
0.00006
|
NM_020822.3(KCNT1):c.3502+1584G>A
|
rs759235951
|
0.00006
|
NM_024675.4(PALB2):c.1935G>A (p.Glu645=)
|
rs141707455
|
0.00006
|
NM_024675.4(PALB2):c.560C>A (p.Pro187His)
|
rs371582757
|
0.00006
|
NM_024675.4(PALB2):c.768C>T (p.Ser256=)
|
rs45487491
|
0.00006
|
NM_032043.3(BRIP1):c.2232C>T (p.Asp744=)
|
rs374362388
|
0.00006
|
NM_000038.6(APC):c.3625G>A (p.Glu1209Lys)
|
rs201185479
|
0.00005
|
NM_000038.6(APC):c.4372C>T (p.Pro1458Ser)
|
rs143796828
|
0.00005
|
NM_000136.3(FANCC):c.395C>G (p.Ala132Gly)
|
rs587779905
|
0.00005
|
NM_000179.3(MSH6):c.2173A>G (p.Ile725Val)
|
rs148898662
|
0.00005
|
NM_000179.3(MSH6):c.3513T>C (p.Asp1171=)
|
rs63749834
|
0.00005
|
NM_000245.4(MET):c.100G>A (p.Glu34Lys)
|
rs764246939
|
0.00005
|
NM_000249.4(MLH1):c.1153C>T (p.Arg385Cys)
|
rs63750760
|
0.00005
|
NM_000251.3(MSH2):c.843A>T (p.Ser281=)
|
rs150197753
|
0.00005
|
NM_000455.5(STK11):c.375-7G>A
|
rs587781176
|
0.00005
|
NM_001034853.2(RPGR):c.865A>G (p.Ile289Val)
|
rs62640587
|
0.00005
|
NM_002637.4(PHKA1):c.3364G>C (p.Glu1122Gln)
|
rs202007590
|
0.00005
|
NM_002878.4(RAD51D):c.-126C>T
|
rs781135655
|
0.00005
|
NM_003000.3(SDHB):c.200+7A>G
|
rs371329778
|
0.00005
|
NM_007294.4(BRCA1):c.5117G>C (p.Gly1706Ala)
|
rs80356860
|
0.00005
|
NM_021625.5(TRPV4):c.1885G>A (p.Ala629Thr)
|
rs200838499
|
0.00005
|
NM_032043.3(BRIP1):c.3567T>C (p.Asp1189=)
|
rs764848326
|
0.00005
|
NM_000059.4(BRCA2):c.2987T>G (p.Leu996Arg)
|
rs80358545
|
0.00004
|
NM_000059.4(BRCA2):c.6290C>T (p.Thr2097Met)
|
rs80358866
|
0.00004
|
NM_000059.4(BRCA2):c.8918G>A (p.Arg2973His)
|
rs80359143
|
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_000251.3(MSH2):c.287G>A (p.Arg96His)
|
rs63750002
|
0.00004
|
NM_000455.5(STK11):c.-167C>T
|
rs1273032629
|
0.00004
|
NM_000455.5(STK11):c.795G>A (p.Glu265=)
|
rs730881963
|
0.00004
|
NM_000535.7(PMS2):c.1501G>A (p.Val501Met)
|
rs540287433
|
0.00004
|
NM_000546.6(TP53):c.1149C>T (p.Leu383=)
|
rs373710656
|
0.00004
|
NM_000546.6(TP53):c.91G>A (p.Val31Ile)
|
rs201753350
|
0.00004
|
NM_001127222.2(CACNA1A):c.6601C>T (p.Arg2201Trp)
|
rs1032588483
|
0.00004
|
NM_001323289.2(CDKL5):c.2389G>A (p.Asp797Asn)
|
rs140313320
|
0.00004
|
NM_002691.4(POLD1):c.1383+8C>T
|
rs374719944
|
0.00004
|
NM_004304.5(ALK):c.3363T>A (p.Gly1121=)
|
rs201767904
|
0.00004
|
NM_004360.5(CDH1):c.375C>A (p.Pro125=)
|
rs773044699
|
0.00004
|
NM_005228.5(EGFR):c.739G>A (p.Asp247Asn)
|
rs780001754
|
0.00004
|
NM_005263.5(GFI1):c.1208A>G (p.Lys403Arg)
|
rs28936382
|
0.00004
|
NM_006231.4(POLE):c.3939G>A (p.Thr1313=)
|
rs150282789
|
0.00004
|
NM_006231.4(POLE):c.4150-6C>T
|
rs756837862
|
0.00004
|
NM_006231.4(POLE):c.4307G>A (p.Arg1436Gln)
|
rs754518522
|
0.00004
|
NM_007194.4(CHEK2):c.593-55G>A
|
rs17879915
|
0.00004
|
NM_007294.4(BRCA1):c.4729T>C (p.Ser1577Pro)
|
rs80356909
|
0.00004
|
NM_007294.4(BRCA1):c.81-11del
|
rs273902788
|
0.00004
|
NM_019594.4(LRRC8A):c.1586C>T (p.Ala529Val)
|
rs150164316
|
0.00004
|
NM_020937.4(FANCM):c.3938G>C (p.Ser1313Thr)
|
rs771311008
|
0.00004
|
NM_000038.6(APC):c.647G>A (p.Arg216Gln)
|
rs76685252
|
0.00003
|
NM_000051.4(ATM):c.2735A>G (p.Gln912Arg)
|
rs730881353
|
0.00003
|
NM_000051.4(ATM):c.4910-248T>C
|
rs550591525
|
0.00003
|
NM_000057.4(BLM):c.2106T>A (p.Pro702=)
|
rs529421306
|
0.00003
|
NM_000057.4(BLM):c.2210_2211insA (p.Thr738fs)
|
rs758886088
|
0.00003
|
NM_000057.4(BLM):c.2212_2213insTTC (p.Thr738delinsIlePro)
|
rs780538610
|
0.00003
|
NM_000059.4(BRCA2):c.*15G>A
|
rs376501142
|
0.00003
|
NM_000059.4(BRCA2):c.3581G>A (p.Gly1194Asp)
|
rs28897721
|
0.00003
|
NM_000059.4(BRCA2):c.3682A>G (p.Asn1228Asp)
|
rs28897722
|
0.00003
|
NM_000059.4(BRCA2):c.3910A>G (p.Thr1304Ala)
|
rs28897723
|
0.00003
|
NM_000059.4(BRCA2):c.4670C>G (p.Thr1557Ser)
|
rs80358698
|
0.00003
|
NM_000059.4(BRCA2):c.5634C>G (p.Asn1878Lys)
|
rs80358784
|
0.00003
|
NM_000059.4(BRCA2):c.6935A>T (p.Asp2312Val)
|
rs80358916
|
0.00003
|
NM_000059.4(BRCA2):c.9458G>C (p.Gly3153Ala)
|
rs80359220
|
0.00003
|
NM_000179.3(MSH6):c.627+9C>T
|
rs373155872
|
0.00003
|
NM_000249.4(MLH1):c.884+15A>G
|
rs372817491
|
0.00003
|
NM_000455.5(STK11):c.374+9T>A
|
rs762297795
|
0.00003
|
NM_000465.4(BARD1):c.1904-485A>G
|
rs571154441
|
0.00003
|
NM_000465.4(BARD1):c.1904-629C>T
|
rs1266026461
|
0.00003
|
NM_001042492.3(NF1):c.169G>A (p.Gly57Ser)
|
rs779727341
|
0.00003
|
NM_001128425.2(MUTYH):c.36+179G>T
|
rs1418696430
|
0.00003
|
NM_001165963.4(SCN1A):c.4834G>A (p.Val1612Ile)
|
rs121918808
|
0.00003
|
NM_001370259.2(MEN1):c.1165C>T (p.Arg389Trp)
|
rs566593066
|
0.00003
|
NM_002529.4(NTRK1):c.1083G>T (p.Leu361=)
|
rs750656916
|
0.00003
|
NM_002878.4(RAD51D):c.481-8C>T
|
rs762247126
|
0.00003
|
NM_002878.4(RAD51D):c.83-37C>A
|
rs763129236
|
0.00003
|
NM_004360.5(CDH1):c.1138-44G>A
|
rs374676556
|
0.00003
|
NM_005228.5(EGFR):c.345T>A (p.Asn115Lys)
|
rs773596817
|
0.00003
|
NM_005228.5(EGFR):c.559+46G>A
|
rs752130552
|
0.00003
|
NM_006231.4(POLE):c.1021-11C>T
|
rs781431436
|
0.00003
|
NM_006231.4(POLE):c.3090C>T (p.Phe1030=)
|
rs766306895
|
0.00003
|
NM_006231.4(POLE):c.3228C>T (p.Cys1076=)
|
rs767929667
|
0.00003
|
NM_007294.4(BRCA1):c.398G>A (p.Arg133His)
|
rs80357357
|
0.00003
|
NM_007294.4(BRCA1):c.5333-8C>T
|
rs80358084
|
0.00003
|
NM_020937.4(FANCM):c.1667A>G (p.Asp556Gly)
|
rs148810507
|
0.00003
|
NM_020975.6(RET):c.1867G>A (p.Glu623Lys)
|
rs377767402
|
0.00003
|
NM_020975.6(RET):c.3149G>A (p.Arg1050Gln)
|
rs200956659
|
0.00003
|
NM_030662.4(MAP2K2):c.818A>G (p.Lys273Arg)
|
rs539555837
|
0.00003
|
NM_032043.3(BRIP1):c.2100A>G (p.Leu700=)
|
rs766047812
|
0.00003
|
NM_032043.3(BRIP1):c.702G>A (p.Lys234=)
|
rs45512798
|
0.00003
|
NM_032043.3(BRIP1):c.728T>C (p.Ile243Thr)
|
rs587781860
|
0.00003
|
NM_033343.4(LHX4):c.704G>A (p.Arg235Gln)
|
rs765008063
|
0.00003
|
NM_000038.6(APC):c.3225T>C (p.Tyr1075=)
|
rs768123840
|
0.00002
|
NM_000038.6(APC):c.5308A>G (p.Lys1770Glu)
|
rs551183536
|
0.00002
|
NM_000038.6(APC):c.7495G>C (p.Val2499Leu)
|
rs33941929
|
0.00002
|
NM_000038.6(APC):c.7550A>G (p.Tyr2517Cys)
|
rs587783036
|
0.00002
|
NM_000051.4(ATM):c.2115C>T (p.Tyr705=)
|
rs876659149
|
0.00002
|
NM_000051.4(ATM):c.4437-9C>T
|
rs766003804
|
0.00002
|
NM_000051.4(ATM):c.8151+8T>C
|
rs768069197
|
0.00002
|
NM_000051.4(ATM):c.8152-50T>C
|
rs762648668
|
0.00002
|
NM_000057.4(BLM):c.3019+17T>C
|
rs532036885
|
0.00002
|
NM_000057.4(BLM):c.963G>A (p.Thr321=)
|
rs779461745
|
0.00002
|
NM_000059.4(BRCA2):c.10202C>T (p.Thr3401Met)
|
rs55853199
|
0.00002
|
NM_000059.4(BRCA2):c.1820A>C (p.Lys607Thr)
|
rs55962656
|
0.00002
|
NM_000059.4(BRCA2):c.5270A>G (p.Tyr1757Cys)
|
rs587776466
|
0.00002
|
NM_000077.5(CDKN2A):c.457+30C>T
|
rs780868128
|
0.00002
|
NM_000123.4(ERCC5):c.3428C>T (p.Ala1143Val)
|
rs376411022
|
0.00002
|
NM_000136.3(FANCC):c.1161C>T (p.Cys387=)
|
rs548998258
|
0.00002
|
NM_000169.3(GLA):c.196G>C (p.Glu66Gln)
|
rs104894833
|
0.00002
|
NM_000179.3(MSH6):c.204G>A (p.Lys68=)
|
rs864622565
|
0.00002
|
NM_000179.3(MSH6):c.4002-28del
|
rs1572749250
|
0.00002
|
NM_000245.4(MET):c.1640G>A (p.Arg547Gln)
|
rs761951444
|
0.00002
|
NM_000251.3(MSH2):c.2061C>G (p.Leu687=)
|
rs63750032
|
0.00002
|
NM_000314.8(PTEN):c.-280C>T
|
rs571072832
|
0.00002
|
NM_000335.5(SCN5A):c.436G>A (p.Val146Met)
|
rs199473061
|
0.00002
|
NM_000335.5(SCN5A):c.5960T>G (p.Leu1987Arg)
|
rs145009013
|
0.00002
|
NM_000431.4(MVK):c.1156G>A (p.Asp386Asn)
|
rs104895380
|
0.00002
|
NM_000546.6(TP53):c.555C>T (p.Ser185=)
|
rs367560109
|
0.00002
|
NM_001128425.2(MUTYH):c.161G>A (p.Cys54Tyr)
|
rs560905645
|
0.00002
|
NM_002485.5(NBN):c.120G>T (p.Ser40=)
|
rs774989816
|
0.00002
|
NM_002691.4(POLD1):c.2155-6C>T
|
rs112481714
|
0.00002
|
NM_002691.4(POLD1):c.2565-12G>A
|
rs779262089
|
0.00002
|
NM_002907.4(RECQL):c.502-10C>T
|
rs1565569497
|
0.00002
|
NM_002907.4(RECQL):c.868-10T>A
|
rs752255394
|
0.00002
|
NM_003466.4(PAX8):c.709G>C (p.Glu237Gln)
|
rs199890664
|
0.00002
|
NM_004006.3(DMD):c.2528A>T (p.Glu843Val)
|
rs202167701
|
0.00002
|
NM_004006.3(DMD):c.7359A>G (p.Glu2453=)
|
rs780283825
|
0.00002
|
NM_004360.5(CDH1):c.1273G>A (p.Val425Ile)
|
rs570930882
|
0.00002
|
NM_004387.4(NKX2-5):c.943G>T (p.Val315Leu)
|
rs201249977
|
0.00002
|
NM_004656.4(BAP1):c.2076G>A (p.Val692=)
|
rs747712653
|
0.00002
|
NM_005732.4(RAD50):c.1992A>G (p.Ala664=)
|
rs773126534
|
0.00002
|
NM_005732.4(RAD50):c.282A>G (p.Ile94Met)
|
rs786202847
|
0.00002
|
NM_006218.4(PIK3CA):c.1767T>C (p.Asp589=)
|
rs199540873
|
0.00002
|
NM_006218.4(PIK3CA):c.2418T>C (p.Asp806=)
|
rs199693043
|
0.00002
|
NM_007294.4(BRCA1):c.3012G>A (p.Glu1004=)
|
rs786201784
|
0.00002
|
NM_007294.4(BRCA1):c.4766G>A (p.Arg1589His)
|
rs80357341
|
0.00002
|
NM_007294.4(BRCA1):c.4955T>C (p.Met1652Thr)
|
rs80356968
|
0.00002
|
NM_007294.4(BRCA1):c.5074+23A>G
|
rs778115859
|
0.00002
|
NM_007294.4(BRCA1):c.5074+6C>G
|
rs80358032
|
0.00002
|
NM_007294.4(BRCA1):c.5175A>G (p.Glu1725=)
|
rs191373374
|
0.00002
|
NM_019594.4(LRRC8A):c.203C>T (p.Ser68Leu)
|
rs147311433
|
0.00002
|
NM_020975.6(RET):c.1678C>T (p.Pro560Ser)
|
rs748852160
|
0.00002
|
NM_022455.5(NSD1):c.6887T>C (p.Val2296Ala)
|
rs754309202
|
0.00002
|
NM_032043.3(BRIP1):c.-95G>A
|
rs892920553
|
0.00002
|
NM_032638.5(GATA2):c.1017+8C>T
|
rs200848213
|
0.00002
|
NM_058216.3(RAD51C):c.1026+43C>T
|
rs750859385
|
0.00002
|
NM_058216.3(RAD51C):c.146-3C>T
|
rs765143155
|
0.00002
|
NM_000038.6(APC):c.-19+416C>T
|
rs976627265
|
0.00001
|
NM_000038.6(APC):c.1580G>C (p.Arg527Thr)
|
rs1554081889
|
0.00001
|
NM_000038.6(APC):c.2472A>T (p.Pro824=)
|
rs746965994
|
0.00001
|
NM_000038.6(APC):c.2642C>T (p.Ser881Phe)
|
rs535344579
|
0.00001
|
NM_000038.6(APC):c.3804A>G (p.Pro1268=)
|
rs878853442
|
0.00001
|
NM_000038.6(APC):c.5017G>A (p.Glu1673Lys)
|
rs587779796
|
0.00001
|
NM_000051.4(ATM):c.2922-8T>A
|
rs545892367
|
0.00001
|
NM_000051.4(ATM):c.3256C>T (p.Arg1086Cys)
|
rs201780199
|
0.00001
|
NM_000051.4(ATM):c.3549T>C (p.Asn1183=)
|
rs767377764
|
0.00001
|
NM_000051.4(ATM):c.5658T>C (p.Pro1886=)
|
rs940182945
|
0.00001
|
NM_000051.4(ATM):c.902-22A>C
|
rs766650801
|
0.00001
|
NM_000057.4(BLM):c.2784T>C (p.Asp928=)
|
rs1032746564
|
0.00001
|
NM_000057.4(BLM):c.3875-6T>C
|
rs1021714718
|
0.00001
|
NM_000059.4(BRCA2):c.10076A>G (p.Glu3359Gly)
|
rs80358389
|
0.00001
|
NM_000059.4(BRCA2):c.2127G>C (p.Leu709=)
|
rs554040246
|
0.00001
|
NM_000059.4(BRCA2):c.2601T>G (p.Thr867=)
|
rs730881589
|
0.00001
|
NM_000059.4(BRCA2):c.3509C>T (p.Ala1170Val)
|
rs80358599
|
0.00001
|
NM_000059.4(BRCA2):c.3767A>C (p.His1256Pro)
|
rs80358618
|
0.00001
|
NM_000059.4(BRCA2):c.3814A>G (p.Met1272Val)
|
rs80358624
|
0.00001
|
NM_000059.4(BRCA2):c.4023A>C (p.Ser1341=)
|
rs276174840
|
0.00001
|
NM_000059.4(BRCA2):c.438A>G (p.Leu146=)
|
rs200942633
|
0.00001
|
NM_000059.4(BRCA2):c.5882G>A (p.Ser1961Asn)
|
rs80358820
|
0.00001
|
NM_000059.4(BRCA2):c.6131G>T (p.Gly2044Val)
|
rs56191579
|
0.00001
|
NM_000059.4(BRCA2):c.6443C>A (p.Ser2148Tyr)
|
rs80358880
|
0.00001
|
NM_000059.4(BRCA2):c.6842-19A>G
|
rs81002865
|
0.00001
|
NM_000059.4(BRCA2):c.7307A>T (p.Asn2436Ile)
|
rs80358955
|
0.00001
|
NM_000059.4(BRCA2):c.7463G>A (p.Arg2488Lys)
|
rs80358968
|
0.00001
|
NM_000059.4(BRCA2):c.7928C>G (p.Ala2643Gly)
|
rs80359018
|
0.00001
|
NM_000059.4(BRCA2):c.811G>A (p.Gly271Arg)
|
rs786204274
|
0.00001
|
NM_000059.4(BRCA2):c.8647C>T (p.Pro2883Ser)
|
rs80359122
|
0.00001
|
NM_000059.4(BRCA2):c.8997G>A (p.Leu2999=)
|
rs80359804
|
0.00001
|
NM_000059.4(BRCA2):c.9649-45G>C
|
rs376783622
|
0.00001
|
NM_000059.4(BRCA2):c.964A>C (p.Lys322Gln)
|
rs11571640
|
0.00001
|
NM_000075.4(CDK4):c.660C>T (p.Ala220=)
|
rs773490152
|
0.00001
|
NM_000077.5(CDKN2A):c.151-66A>G
|
rs890179220
|
0.00001
|
NM_000077.5(CDKN2A):c.458-525G>T
|
rs1448745459
|
0.00001
|
NM_000088.4(COL1A1):c.1875+3G>T
|
rs138164489
|
0.00001
|
NM_000135.4(FANCA):c.3366C>T (p.His1122=)
|
rs771815968
|
0.00001
|
NM_000136.3(FANCC):c.-87G>A
|
rs1051113986
|
0.00001
|
NM_000136.3(FANCC):c.1069C>G (p.Gln357Glu)
|
rs759900071
|
0.00001
|
NM_000136.3(FANCC):c.1155-29A>G
|
rs759352163
|
0.00001
|
NM_000136.3(FANCC):c.1275C>G (p.Leu425=)
|
rs767126985
|
0.00001
|
NM_000136.3(FANCC):c.1534-18C>T
|
rs1289718209
|
0.00001
|
NM_000136.3(FANCC):c.166-5C>T
|
rs753820400
|
0.00001
|
NM_000136.3(FANCC):c.166-9C>G
|
rs372507085
|
0.00001
|
NM_000141.5(FGFR2):c.755C>T (p.Ser252Leu)
|
rs79184941
|
0.00001
|
NM_000142.5(FGFR3):c.514G>A (p.Val172Ile)
|
rs529408918
|
0.00001
|
NM_000169.3(GLA):c.1153A>G (p.Thr385Ala)
|
rs397515869
|
0.00001
|
NM_000179.3(MSH6):c.1623C>T (p.Ser541=)
|
rs777678406
|
0.00001
|
NM_000179.3(MSH6):c.2641G>A (p.Gly881Ser)
|
rs998186339
|
0.00001
|
NM_000179.3(MSH6):c.2982C>T (p.Tyr994=)
|
rs367758473
|
0.00001
|
NM_000179.3(MSH6):c.3300G>A (p.Thr1100=)
|
rs540252208
|
0.00001
|
NM_000208.4(INSR):c.2572A>G (p.Thr858Ala)
|
rs182552223
|
0.00001
|
NM_000245.4(MET):c.1306G>A (p.Glu436Lys)
|
rs200740468
|
0.00001
|
NM_000245.4(MET):c.305G>A (p.Ser102Asn)
|
rs779897466
|
0.00001
|
NM_000249.4(MLH1):c.1896+7C>T
|
rs863224339
|
0.00001
|
NM_000249.4(MLH1):c.1990-6G>A
|
rs117221851
|
0.00001
|
NM_000249.4(MLH1):c.2104-22T>G
|
rs267607890
|
0.00001
|
NM_000249.4(MLH1):c.351G>A (p.Thr117=)
|
rs61751643
|
0.00001
|
NM_000249.4(MLH1):c.885-5G>T
|
rs267607802
|
0.00001
|
NM_000251.3(MSH2):c.1130A>G (p.Gln377Arg)
|
rs776174711
|
0.00001
|
NM_000314.8(PTEN):c.492+31T>C
|
rs1320105617
|
0.00001
|
NM_000352.6(ABCC8):c.602C>T (p.Pro201Leu)
|
rs933815442
|
0.00001
|
NM_000388.4(CASR):c.2767C>G (p.Pro923Ala)
|
rs201517907
|
0.00001
|
NM_000455.5(STK11):c.375-33C>T
|
rs1246317136
|
0.00001
|
NM_000455.5(STK11):c.559G>A (p.Gly187Ser)
|
rs587782032
|
0.00001
|
NM_000455.5(STK11):c.921-9C>T
|
rs761688641
|
0.00001
|
NM_000465.4(BARD1):c.1818T>C (p.His606=)
|
rs199590147
|
0.00001
|
NM_000535.7(PMS2):c.1047G>A (p.Lys349=)
|
rs1422380612
|
0.00001
|
NM_000535.7(PMS2):c.1352G>A (p.Arg451Lys)
|
rs876660834
|
0.00001
|
NM_000535.7(PMS2):c.713G>A (p.Ser238Asn)
|
rs1060503111
|
0.00001
|
NM_000535.7(PMS2):c.750C>T (p.Ser250=)
|
rs200439295
|
0.00001
|
NM_000546.6(TP53):c.354A>T (p.Thr118=)
|
rs751978853
|
0.00001
|
NM_000546.6(TP53):c.783-34C>T
|
rs376988747
|
0.00001
|
NM_000546.6(TP53):c.885T>C (p.Pro295=)
|
rs200073907
|
0.00001
|
NM_000548.5(TSC2):c.1689C>T (p.Ala563=)
|
rs779858018
|
0.00001
|
NM_001042492.3(NF1):c.6642+42T>C
|
rs760581466
|
0.00001
|
NM_001048174.2(MUTYH):c.1102+42_1102+43del
|
rs775033999
|
0.00001
|
NM_001048174.2(MUTYH):c.1227G>A (p.Arg409=)
|
rs199575659
|
0.00001
|
NM_001048174.2(MUTYH):c.1533T>C (p.Thr511=)
|
rs756708148
|
0.00001
|
NM_001048174.2(MUTYH):c.887C>T (p.Ser296Leu)
|
rs558173961
|
0.00001
|
NM_001048174.2(MUTYH):c.903G>C (p.Val301=)
|
rs749048388
|
0.00001
|
NM_001127511.3(APC):c.30C>A (p.Val10=)
|
rs917976853
|
0.00001
|
NM_001162498.3(LPAR6):c.819C>A (p.Tyr273Ter)
|
rs749894411
|
0.00001
|
NM_001211.6(BUB1B):c.585A>G (p.Gln195=)
|
rs1595518738
|
0.00001
|
NM_001244008.2(KIF1A):c.3278A>G (p.Asp1093Gly)
|
rs748846590
|
0.00001
|
NM_001348768.2(HECW2):c.452G>A (p.Arg151Gln)
|
rs752395684
|
0.00001
|
NM_001370259.2(MEN1):c.188T>A (p.Phe63Tyr)
|
rs1366457977
|
0.00001
|
NM_001382430.1(AKT1):c.1172+4A>C
|
rs1319947920
|
0.00001
|
NM_002485.5(NBN):c.1902T>G (p.Ala634=)
|
rs876660052
|
0.00001
|
NM_002691.4(POLD1):c.1635C>T (p.Tyr545=)
|
rs1057522415
|
0.00001
|
NM_002691.4(POLD1):c.197C>G (p.Ala66Gly)
|
rs199792522
|
0.00001
|
NM_002691.4(POLD1):c.2717+8G>A
|
rs752674105
|
0.00001
|
NM_002691.4(POLD1):c.3120+6A>G
|
rs1231856737
|
0.00001
|
NM_002691.4(POLD1):c.317-5C>T
|
rs768082423
|
0.00001
|
NM_002872.5(RAC2):c.364G>A (p.Asp122Asn)
|
rs910521882
|
0.00001
|
NM_002872.5(RAC2):c.562G>A (p.Ala188Thr)
|
rs758461304
|
0.00001
|
NM_002878.4(RAD51D):c.900A>G (p.Arg300=)
|
rs370634278
|
0.00001
|
NM_003051.4(SLC16A1):c.404T>C (p.Ile135Thr)
|
rs1570620206
|
0.00001
|
NM_003466.4(PAX8):c.1139C>T (p.Thr380Ile)
|
rs987647241
|
0.00001
|
NM_004006.3(DMD):c.9388T>G (p.Cys3130Gly)
|
rs932848232
|
0.00001
|
NM_004168.4(SDHA):c.1242C>T (p.Pro414=)
|
rs777306884
|
0.00001
|
NM_004360.5(CDH1):c.2358C>T (p.Asp786=)
|
rs760701558
|
0.00001
|
NM_005228.5(EGFR):c.1840G>A (p.Gly614Ser)
|
rs779076899
|
0.00001
|
NM_005228.5(EGFR):c.2862C>T (p.Asp954=)
|
rs397517138
|
0.00001
|
NM_005228.5(EGFR):c.869C>T (p.Thr290Ile)
|
rs1020654485
|
0.00001
|
NM_005732.4(RAD50):c.3037-6C>T
|
rs1209508205
|
0.00001
|
NM_006218.4(PIK3CA):c.1060-9T>C
|
rs750875731
|
0.00001
|
NM_006231.4(POLE):c.3276-30C>T
|
rs773248517
|
0.00001
|
NM_006231.4(POLE):c.4427T>G (p.Phe1476Cys)
|
rs985504177
|
0.00001
|
NM_006231.4(POLE):c.5678+3G>A
|
rs1060500826
|
0.00001
|
NM_006231.4(POLE):c.5866G>A (p.Glu1956Lys)
|
rs749992643
|
0.00001
|
NM_006231.4(POLE):c.5900C>T (p.Ala1967Val)
|
rs201273415
|
0.00001
|
NM_006231.4(POLE):c.6540G>A (p.Ala2180=)
|
rs746976542
|
0.00001
|
NM_006231.4(POLE):c.6775C>T (p.Arg2259Trp)
|
rs866548835
|
0.00001
|
NM_006245.4(PPP2R5D):c.793A>C (p.Ile265Leu)
|
rs957822115
|
0.00001
|
NM_006766.5(KAT6A):c.5776C>G (p.Arg1926Gly)
|
rs900174205
|
0.00001
|
NM_007194.3(CHEK2):c.-70A>T
|
rs1264820873
|
0.00001
|
NM_007194.4(CHEK2):c.1290T>C (p.His430=)
|
rs373864492
|
0.00001
|
NM_007194.4(CHEK2):c.1452G>A (p.Pro484=)
|
rs749156425
|
0.00001
|
NM_007294.4(BRCA1):c.-20+28G>A
|
rs904265019
|
0.00001
|
NM_007294.4(BRCA1):c.301+12A>C
|
rs863224757
|
0.00001
|
NM_007294.4(BRCA1):c.3082C>T (p.Arg1028Cys)
|
rs80357049
|
0.00001
|
NM_007294.4(BRCA1):c.3432G>A (p.Gln1144=)
|
rs80356922
|
0.00001
|
NM_007294.4(BRCA1):c.4344C>T (p.Ser1448=)
|
rs1250691798
|
0.00001
|
NM_007294.4(BRCA1):c.4358-2715C>A
|
rs746972533
|
0.00001
|
NM_007294.4(BRCA1):c.4485-10A>G
|
rs863224420
|
0.00001
|
NM_007294.4(BRCA1):c.5277+98T>C
|
rs1597810191
|
0.00001
|
NM_007294.4(BRCA1):c.5332+15G>C
|
rs80358148
|
0.00001
|
NM_015559.3(SETBP1):c.4202G>A (p.Arg1401Gln)
|
rs775975116
|
0.00001
|
NM_020937.4(FANCM):c.4465G>A (p.Gly1489Arg)
|
rs183784665
|
0.00001
|
NM_020975.6(RET):c.2166G>T (p.Lys722Asn)
|
rs527726480
|
0.00001
|
NM_020975.6(RET):c.2289C>T (p.Asn763=)
|
rs777349208
|
0.00001
|
NM_024426.6(WT1):c.1017-19C>T
|
rs1398407708
|
0.00001
|
NM_024675.4(PALB2):c.1311A>G (p.Lys437=)
|
rs190489275
|
0.00001
|
NM_024675.4(PALB2):c.1611G>A (p.Ser537=)
|
rs730881874
|
0.00001
|
NM_024675.4(PALB2):c.1923A>G (p.Lys641=)
|
rs775283927
|
0.00001
|
NM_024675.4(PALB2):c.212-6C>T
|
rs1416424510
|
0.00001
|
NM_024675.4(PALB2):c.495C>T (p.Gly165=)
|
rs200937538
|
0.00001
|
NM_025077.4(TOE1):c.52+130A>G
|
rs1215187269
|
0.00001
|
NM_025077.4(TOE1):c.52+97G>A
|
rs992028783
|
0.00001
|
NM_032043.2(BRIP1):c.2097+8A>C
|
rs730881642
|
0.00001
|
NM_032043.3(BRIP1):c.-225G>A
|
rs1603369188
|
0.00001
|
NM_032043.3(BRIP1):c.-56C>G
|
rs1054876315
|
0.00001
|
NM_032043.3(BRIP1):c.1455T>C (p.Ala485=)
|
rs773489367
|
0.00001
|
NM_032043.3(BRIP1):c.3122T>C (p.Met1041Thr)
|
rs761225576
|
0.00001
|
NM_033343.4(LHX4):c.250C>T (p.Arg84Cys)
|
rs121912642
|
0.00001
|
NM_058216.3(RAD51C):c.141C>T (p.Ser47=)
|
rs568912602
|
0.00001
|
NM_058216.3(RAD51C):c.145+11C>G
|
rs1263551026
|
0.00001
|
NM_133433.4(NIPBL):c.5195A>G (p.Lys1732Arg)
|
rs775226349
|
0.00001
|
NC_000002.12:g.214809692G>A
|
rs551544754
|
|
NC_000011.10:g.108222768C>T
|
rs1056339095
|
|
NC_000017.11:g.43125443A>C
|
rs113323025
|
|
NM_000038.6(APC):c.*409_*414dup
|
rs397817775
|
|
NM_000038.6(APC):c.278T>A (p.Leu93His)
|
rs876658977
|
|
NM_000038.6(APC):c.4765C>G (p.Arg1589Gly)
|
rs72541813
|
|
NM_000038.6(APC):c.7089A>G (p.Lys2363=)
|
rs864622761
|
|
NM_000038.6(APC):c.7391C>G (p.Ser2464Cys)
|
rs766473931
|
|
NM_000051.3(ATM):c.-328A>T
|
rs4987880
|
|
NM_000051.4(ATM):c.-15C>T
|
rs1204830852
|
|
NM_000051.4(ATM):c.1236-2_1236-1del
|
rs1591522638
|
|
NM_000051.4(ATM):c.1243A>T (p.Ile415Phe)
|
rs1591522756
|
|
NM_000051.4(ATM):c.1245_1246insTTTTTT (p.Ile415_Ala416insPhePhe)
|
rs1591522786
|
|
NM_000051.4(ATM):c.1273G>T (p.Ala425Ser)
|
rs769214234
|
|
NM_000051.4(ATM):c.1825G>C (p.Glu609Gln)
|
rs779780896
|
|
NM_000051.4(ATM):c.2376+9TTC[2]
|
rs757318914
|
|
NM_000051.4(ATM):c.4109+8C>T
|
rs1591656404
|
|
NM_000051.4(ATM):c.4236+7A>G
|
rs1207435429
|
|
NM_000051.4(ATM):c.504C>T (p.Phe168=)
|
rs1060504312
|
|
NM_000051.4(ATM):c.5306C>A (p.Thr1769Lys)
|
rs1192250974
|
|
NM_000051.4(ATM):c.5309C>A (p.Ser1770Ter)
|
rs121434223
|
|
NM_000051.4(ATM):c.5715A>G (p.Ser1905=)
|
rs1057524579
|
|
NM_000051.4(ATM):c.6348-9A>T
|
rs1591099349
|
|
NM_000051.4(ATM):c.6987C>G (p.Ser2329Arg)
|
rs1591142078
|
|
NM_000051.4(ATM):c.7248C>T (p.Leu2416=)
|
rs750513866
|
|
NM_000051.4(ATM):c.7789-8A>T
|
rs1591177900
|
|
NM_000051.4(ATM):c.8313A>C (p.Thr2771=)
|
rs1555135563
|
|
NM_000051.4(ATM):c.8893T>C (p.Leu2965=)
|
rs1060504287
|
|
NM_000051.4(ATM):c.9112C>A (p.Gln3038Lys)
|
rs1591387978
|
|
NM_000052.7(ATP7A):c.1856T>C (p.Ile619Thr)
|
rs1569549841
|
|
NM_000052.7(ATP7A):c.3132T>C (p.Asp1044=)
|
rs797045370
|
|
NM_000057.4(BLM):c.1088-38C>T
|
rs758949040
|
|
NM_000057.4(BLM):c.1088-39C>T
|
rs878957002
|
|
NM_000057.4(BLM):c.1216A>G (p.Ile406Val)
|
rs769498398
|
|
NM_000057.4(BLM):c.2074+56G>A
|
rs942432763
|
|
NM_000057.4(BLM):c.2141C>G (p.Ser714Cys)
|
|
|
NM_000057.4(BLM):c.2556-8T>C
|
rs1567052156
|
|
NM_000057.4(BLM):c.543C>A (p.Ser181Arg)
|
rs761288442
|
|
NM_000059.3(BRCA2):c.-200C>G
|
rs1026273725
|
|
NM_000059.4(BRCA2):c.*838_*839del
|
rs75353978
|
|
NM_000059.4(BRCA2):c.-174T>G
|
rs1593879677
|
|
NM_000059.4(BRCA2):c.-39-5del
|
rs276174800
|
|
NM_000059.4(BRCA2):c.10094_10095insGAATTATAT (p.Val3365_Ser3366insAsnTyrIle)
|
rs758307938
|
|
NM_000059.4(BRCA2):c.10250A>G (p.Tyr3417Cys)
|
rs730881600
|
|
NM_000059.4(BRCA2):c.1247T>G (p.Ile416Ser)
|
rs80358418
|
|
NM_000059.4(BRCA2):c.1909+9_1909+10del
|
rs527732001
|
|
NM_000059.4(BRCA2):c.1910-46T>G
|
rs1593895720
|
|
NM_000059.4(BRCA2):c.2568T>A (p.Asn856Lys)
|
rs1166285186
|
|
NM_000059.4(BRCA2):c.317-97A>G
|
rs1255534605
|
|
NM_000059.4(BRCA2):c.3786A>T (p.Ser1262=)
|
rs1042077901
|
|
NM_000059.4(BRCA2):c.3858_3860del (p.Lys1286del)
|
rs80359406
|
|
NM_000059.4(BRCA2):c.475+10A>G
|
|
|
NM_000059.4(BRCA2):c.489T>C (p.Ser163=)
|
rs398122787
|
|
NM_000059.4(BRCA2):c.4928T>C (p.Val1643Ala)
|
rs28897731
|
|
NM_000059.4(BRCA2):c.4973A>G (p.Gln1658Arg)
|
rs1593903991
|
|
NM_000059.4(BRCA2):c.501A>G (p.Thr167=)
|
rs750805758
|
|
NM_000059.4(BRCA2):c.5912C>G (p.Ser1971Cys)
|
rs1593906913
|
|
NM_000059.4(BRCA2):c.6095C>T (p.Ala2032Val)
|
rs786202701
|
|
NM_000059.4(BRCA2):c.6583G>A (p.Gly2195Ser)
|
rs1593909184
|
|
NM_000059.4(BRCA2):c.7008-43T>C
|
rs1418463336
|
|
NM_000059.4(BRCA2):c.794-22C>T
|
rs1566222022
|
|
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn)
|
rs28897754
|
|
NM_000059.4(BRCA2):c.9011A>G (p.Lys3004Arg)
|
rs587782779
|
|
NM_000059.4(BRCA2):c.9257-8C>T
|
rs11571819
|
|
NM_000059.4(BRCA2):c.9375C>G (p.Leu3125=)
|
rs276174924
|
|
NM_000059.4(BRCA2):c.9375C>T (p.Leu3125=)
|
rs276174924
|
|
NM_000059.4(BRCA2):c.9501+44T>G
|
rs887669613
|
|
NM_000059.4(BRCA2):c.9521A>G (p.Asn3174Ser)
|
rs1555289773
|
|
NM_000059.4(BRCA2):c.956A>C (p.Asn319Thr)
|
rs55939572
|
|
NM_000061.3(BTK):c.684G>A (p.Met228Ile)
|
rs1926635223
|
|
NM_000069.3(CACNA1S):c.3071T>C (p.Ile1024Thr)
|
rs978624647
|
|
NM_000071.2(CBS):c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA
|
|
|
NM_000075.4(CDK4):c.523-20A>T
|
rs1595110299
|
|
NM_000077.5(CDKN2A):c.150+11G>A
|
rs1587339427
|
|
NM_000077.5(CDKN2A):c.150+137T>G
|
rs1587338978
|
|
NM_000077.5(CDKN2A):c.369T>A (p.His123Gln)
|
rs6413463
|
|
NM_000077.5(CDKN2A):c.369T>C (p.His123=)
|
rs6413463
|
|
NM_000081.4(LYST):c.3025C>A (p.Gln1009Lys)
|
|
|
NM_000136.3(FANCC):c.-79+98A>G
|
rs1408056644
|
|
NM_000136.3(FANCC):c.1329+10A>G
|
rs977427150
|
|
NM_000136.3(FANCC):c.165+11G>C
|
rs1588353233
|
|
NM_000136.3(FANCC):c.17T>C (p.Val6Ala)
|
rs527289778
|
|
NM_000136.3(FANCC):c.687-5G>T
|
rs767811745
|
|
NM_000136.3(FANCC):c.844-10_844-8del
|
rs758617953
|
|
NM_000143.4(FH):c.1237-50TC[21]
|
rs144131869
|
|
NM_000170.3(GLDC):c.2316-6dup
|
rs3215923
|
|
NM_000173.7(GP1BA):c.1282_1359del (p.415_427SEPAPSPTTPEPT[1])
|
rs869060239
|
|
NM_000179.3(MSH6):c.-46T>G
|
rs748339592
|
|
NM_000179.3(MSH6):c.1420G>C (p.Val474Leu)
|
rs1558661621
|
|
NM_000179.3(MSH6):c.183G>C (p.Ala61=)
|
rs1060504757
|
|
NM_000179.3(MSH6):c.3151G>A (p.Val1051Ile)
|
rs576269342
|
|
NM_000179.3(MSH6):c.3153A>G (p.Val1051=)
|
rs1057521587
|
|
NM_000179.3(MSH6):c.3172+230_3172+231dup
|
rs10666222
|
|
NM_000179.3(MSH6):c.3246G>T (p.Pro1082=)
|
rs3136351
|
|
NM_000179.3(MSH6):c.334A>G (p.Asn112Asp)
|
rs864622397
|
|
NM_000179.3(MSH6):c.3557-16T>A
|
rs1259754363
|
|
NM_000179.3(MSH6):c.3557-2del
|
rs587779271
|
|
NM_000179.3(MSH6):c.3557-4del
|
rs267608102
|
|
NM_000179.3(MSH6):c.3636G>T (p.Val1212=)
|
rs1363247790
|
|
NM_000179.3(MSH6):c.378A>G (p.Ser126=)
|
rs1572708845
|
|
NM_000179.3(MSH6):c.4001+2TAAC[2]
|
rs267608132
|
|
NM_000179.3(MSH6):c.4001+2TAAC[4]
|
rs267608132
|
|
NM_000179.3(MSH6):c.4001+4_4001+8dup
|
rs587782853
|
|
NM_000179.3(MSH6):c.4002-11_4002-10del
|
rs59056100
|
|
NM_000179.3(MSH6):c.4002-36C>A
|
rs983280767
|
|
NM_000179.3(MSH6):c.423C>G (p.Gly141=)
|
rs777587467
|
|
NM_000179.3(MSH6):c.457+32TG[12]
|
rs397839804
|
|
NM_000179.3(MSH6):c.520A>C (p.Arg174=)
|
rs1405000889
|
|
NM_000179.3(MSH6):c.818G>T (p.Gly273Val)
|
rs769610487
|
|
NM_000194.3(HPRT1):c.134+6_134+9del
|
rs794727238
|
|
NM_000208.4(INSR):c.1513A>G (p.Ile505Val)
|
rs1599937384
|
|
NM_000208.4(INSR):c.3661T>G (p.Ser1221Ala)
|
rs201979105
|
|
NM_000214.3(JAG1):c.2101A>C (p.Thr701Pro)
|
rs79176844
|
|
NM_000215.4(JAK3):c.2773C>A (p.Arg925Ser)
|
rs149452625
|
|
NM_000245.4(MET):c.1393-2A>T
|
rs1584921898
|
|
NM_000245.4(MET):c.1973T>C (p.Val658Ala)
|
rs1584941533
|
|
NM_000245.4(MET):c.2103-1G>T
|
rs1336351205
|
|
NM_000245.4(MET):c.2103-2A>T
|
rs1470403316
|
|
NM_000245.4(MET):c.252C>T (p.Tyr84=)
|
rs1584876265
|
|
NM_000245.4(MET):c.2584-1G>T
|
rs1240673121
|
|
NM_000245.4(MET):c.2584-3C>T
|
rs1337305891
|
|
NM_000245.4(MET):c.465G>T (p.Gln155His)
|
rs863224695
|
|
NM_000245.4(MET):c.850A>G (p.Ile284Val)
|
rs776014448
|
|
NM_000249.4(MLH1):c.1038+8C>T
|
rs751872237
|
|
NM_000249.4(MLH1):c.116+27C>T
|
rs1575377948
|
|
NM_000249.4(MLH1):c.1281del (p.Asp428fs)
|
rs1575536988
|
|
NM_000249.4(MLH1):c.1559-16A>T
|
rs769709911
|
|
NM_000249.4(MLH1):c.1587C>T (p.Ser529=)
|
rs767089159
|
|
NM_000249.4(MLH1):c.253C>T (p.Leu85=)
|
rs63750659
|
|
NM_000249.4(MLH1):c.885-21TC[2]
|
rs267607804
|
|
NM_000251.2(MSH2):c.-68G>A
|
rs576303132
|
|
NM_000251.3(MSH2):c.-21A>T
|
rs776559145
|
|
NM_000251.3(MSH2):c.1389G>T (p.Val463=)
|
rs1553365702
|
|
NM_000251.3(MSH2):c.1746C>T (p.Val582=)
|
rs786201486
|
|
NM_000251.3(MSH2):c.2005+8dup
|
rs267607992
|
|
NM_000251.3(MSH2):c.2210+8C>T
|
rs778020437
|
|
NM_000251.3(MSH2):c.2459-46G>A
|
rs1573578232
|
|
NM_000251.3(MSH2):c.2801C>T (p.Thr934Met)
|
rs587779969
|
|
NM_000251.3(MSH2):c.793-10T>G
|
rs1060502016
|
|
NM_000251.3(MSH2):c.942+25_942+29del
|
rs11309117
|
|
NM_000251.3(MSH2):c.942+28_942+29del
|
rs11309117
|
|
NM_000257.4(MYH7):c.3337-4dup
|
rs45504498
|
|
NM_000268.4(NF2):c.363+9G>T
|
rs1601583861
|
|
NM_000311.5(PRNP):c.246_269del (p.60_67PHGGGWGQ[3])
|
rs138688873
|
|
NM_000314.8(PTEN):c.*3448_*3463dup
|
rs763859619
|
|
NM_000314.8(PTEN):c.*3449_*3463dup
|
rs763859619
|
|
NM_000314.8(PTEN):c.-513G>C
|
rs546504608
|
|
NM_000314.8(PTEN):c.-802G>A
|
rs876661166
|
|
NM_000314.8(PTEN):c.210-7_210-3del
|
rs587780544
|
|
NM_000314.8(PTEN):c.493-27G>T
|
rs1589659262
|
|
NM_000314.8(PTEN):c.802-5_802-3dup
|
rs34003473
|
|
NM_000321.3(RB1):c.2521-4G>T
|
rs902298592
|
|
NM_000335.5(SCN5A):c.1372C>T (p.Arg458Cys)
|
rs752130196
|
|
NM_000350.3(ABCA4):c.5196+1136C>A
|
rs114147805
|
|
NM_000350.3(ABCA4):c.6007A>T (p.Ile2003Phe)
|
rs1170554250
|
|
NM_000368.5(TSC1):c.2626-3_2626-2insT
|
rs760737807
|
|
NM_000400.4(ERCC2):c.1845G>A (p.Gly615=)
|
rs1599725250
|
|
NM_000426.4(LAMA2):c.6551T>C (p.Phe2184Ser)
|
rs398123381
|
|
NM_000455.5(STK11):c.-280C>A
|
rs893914050
|
|
NM_000455.5(STK11):c.-551C>T
|
rs1316450313
|
|
NM_000455.5(STK11):c.-95G>T
|
rs1323638467
|
|
NM_000455.5(STK11):c.-99C>T
|
rs1407068597
|
|
NM_000465.4(BARD1):c.-107G>T
|
rs1574870750
|
|
NM_000465.4(BARD1):c.1075_1095del (p.Leu359_Pro365del)
|
rs28997575
|
|
NM_000465.4(BARD1):c.1662T>C (p.Ala554=)
|
rs1402521170
|
|
NM_000465.4(BARD1):c.1904-626G>T
|
rs1172986637
|
|
NM_000465.4(BARD1):c.216-12A>T
|
rs199846428
|
|
NM_000465.4(BARD1):c.2191C>G (p.Arg731Gly)
|
rs76744638
|
|
NM_000520.6(HEXA):c.539A>C (p.Tyr180Ser)
|
rs200513831
|
|
NM_000525.4(KCNJ11):c.28G>C (p.Glu10Gln)
|
rs587783667
|
|
NM_000535.7(PMS2):c.1437C>G (p.His479Gln)
|
rs63750685
|
|
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu)
|
rs63750668
|
|
NM_000535.7(PMS2):c.353+7C>G
|
rs1057520512
|
|
NM_000535.7(PMS2):c.538-8T>C
|
rs922948916
|
|
NM_000546.6(TP53):c.-43G>T
|
rs1166313179
|
|
NM_000546.6(TP53):c.285T>G (p.Ser95=)
|
rs876658696
|
|
NM_000546.6(TP53):c.376-158del
|
rs5819162
|
|
NM_000546.6(TP53):c.376-160_376-158del
|
rs5819162
|
|
NM_000546.6(TP53):c.376-161_376-158del
|
rs5819162
|
|
NM_000546.6(TP53):c.993+257del
|
rs1373684374
|
|
NM_000548.5(TSC2):c.2027G>C (p.Gly676Ala)
|
rs754556513
|
|
NM_000548.5(TSC2):c.4524CTT[1] (p.Phe1510del)
|
rs137854239
|
|
NM_000548.5(TSC2):c.5068+27_5069-47del
|
|
|
NM_000631.5(NCF4):c.106A>C (p.Thr36Pro)
|
rs200818199
|
|
NM_000639.3(FASLG):c.209C>G (p.Pro70Arg)
|
rs1317103645
|
|
NM_000718.4(CACNA1B):c.2988CACGGAGAAGGAGGC[1] (p.997TEKEA[1])
|
rs758502874
|
|
NM_000791.4(DHFR):c.-409_-392del
|
rs201874762
|
|
NM_000834.5(GRIN2B):c.-205A>T
|
rs1347159255
|
|
NM_001009944.3(PKD1):c.8672CCAACTCCG[3] (p.2891ANS[3])
|
rs763199524
|
|
NM_001018115.3(FANCD2):c.2022-5C>T
|
rs4019784
|
|
NM_001018115.3(FANCD2):c.3278T>A (p.Val1093Asp)
|
|
|
NM_001024630.4(RUNX2):c.225GGCGGCTGCGGCGGCGGC[1] (p.Ala84_Ala89del)
|
rs11498192
|
|
NM_001032382.2(PQBP1):c.334_354del (p.Gly113_Arg119del)
|
rs606231198
|
|
NM_001034853.2(RPGR):c.2987AAG[2] (p.Glu998del)
|
rs1356107537
|
|
NM_001035.3(RYR2):c.14223_14224insTTTTT (p.His4742fs)
|
rs1574034151
|
|
NM_001042492.3(NF1):c.3198-6_3198-1del
|
rs1597718651
|
|
NM_001042492.3(NF1):c.3199G>T (p.Asp1067Tyr)
|
rs1597718721
|
|
NM_001042492.3(NF1):c.3204G>T (p.Leu1068Phe)
|
rs1258842007
|
|
NM_001042492.3(NF1):c.4174-8_4174-6del
|
rs751729752
|
|
NM_001042492.3(NF1):c.61-1G>T
|
rs1263745475
|
|
NM_001042492.3(NF1):c.64C>T (p.Pro22Ser)
|
rs1597625794
|
|
NM_001042492.3(NF1):c.8377+6509A>T
|
rs1343721620
|
|
NM_001048166.1(STIL):c.2594A>C (p.Asn865Thr)
|
rs201989960
|
|
NM_001048174.2(MUTYH):c.607-18_607-17del
|
rs765157527
|
|
NM_001075098.3(MOCS1):c.[853G>A;c.1015C>T]
|
|
|
NM_001110792.2(MECP2):c.*98dup
|
rs267608341
|
|
NM_001110792.2(MECP2):c.62+5469A>T
|
rs1557149865
|
|
NM_001113378.2(FANCI):c.1583+4T>C
|
|
|
NM_001113378.2(FANCI):c.2636+11C>G
|
rs1596307878
|
|
NM_001113378.2(FANCI):c.3652-70_3652-69del
|
rs11321073
|
|
NM_001122630.2(CDKN1C):c.771C>T (p.Ser257=)
|
rs747104008
|
|
NM_001127222.2(CACNA1A):c.7266_7271del (p.Ser2423_Gly2424del)
|
rs775428832
|
|
NM_001128840.3(CACNA1D):c.1013T>G (p.Val338Gly)
|
rs201471889
|
|
NM_001134407.3(GRIN2A):c.314A>G (p.Asp105Gly)
|
rs797045015
|
|
NM_001134407.3(GRIN2A):c.3317_3318insTTTTTTTTTTAAT (p.Lys1107fs)
|
rs1419346546
|
|
NM_001134407.3(GRIN2A):c.3320A>T (p.Lys1107Ile)
|
rs1185300490
|
|
NM_001134407.3(GRIN2A):c.3321_3322insCGGCG (p.Thr1108fs)
|
rs1215972111
|
|
NM_001134407.3(GRIN2A):c.3345_3347del (p.Asp1115_Lys1116delinsGlu)
|
rs1440127051
|
|
NM_001134771.2(SLC12A5):c.121+1091A>G
|
rs58366483
|
|
NM_001146262.4(SYT14):c.672AGA[1] (p.Glu225del)
|
rs2307890
|
|
NM_001162498.3(LPAR6):c.369_370del (p.Lys123fs)
|
rs1177544722
|
|
NM_001165963.4(SCN1A):c.4003-14C>T
|
rs1241008825
|
|
NM_001194998.2(CEP152):c.4378_4379del (p.Val1460fs)
|
rs141600901
|
|
NM_001195248.2(APTX):c.484-3_484-2insTTTTTTTTTTTG
|
rs1554664711
|
|
NM_001197104.2(KMT2A):c.3019G>T (p.Gly1007Cys)
|
rs940325244
|
|
NM_001220.5(CAMK2B):c.1636A>C (p.Ile546Leu)
|
rs2128862429
|
|
NM_001231.5(CASQ1):c.448G>T (p.Val150Leu)
|
rs775466623
|
|
NM_001252024.2(TRPM1):c.2149G>C (p.Ala717Pro)
|
rs138944426
|
|
NM_001267550.2(TTN):c.30683-3del
|
rs368277751
|
|
NM_001282531.3(ADNP):c.422_424dup (p.Ser141dup)
|
rs577498739
|
|
NM_001301202.2(RASAL1):c.-64C>T
|
rs1389672398
|
|
NM_001301202.2(RASAL1):c.1775G>A (p.Arg592His)
|
|
|
NM_001302746.1(FASLG):c.-187_-186GA[4]
|
rs55853758
|
|
NM_001323289.2(CDKL5):c.1691A>G (p.His564Arg)
|
rs1602286720
|
|
NM_001363118.2(SLC52A2):c.353C>A (p.Ala118Asp)
|
rs117500243
|
|
NM_001365276.2(TNXB):c.12224G>A (p.Arg4075His)
|
rs201510617
|
|
NM_001365902.3(NFIX):c.28-891dup
|
rs113861190
|
|
NM_001365951.3(KIF1B):c.363+9C>A
|
rs1569599409
|
|
NM_001368894.2(PAX6):c.*21del (p.Ter437=)
|
rs759391101
|
|
NM_001370259.2(MEN1):c.-23-1G>A
|
rs2136197853
|
|
NM_001371928.1(AHDC1):c.3254CCT[6] (p.Ser1091del)
|
rs530256606
|
|
NM_001372051.1(CASP8):c.803-2881_803-2880insATCTATCAATGTTATGCCCACTGTGCTCTCCAGCTGTGGTCTG
|
rs1559369386
|
|
NM_001372066.1(TFAP2A):c.493G>C (p.Glu165Gln)
|
rs1581265556
|
|
NM_001374828.1(ARID1B):c.6793G>A (p.Asp2265Asn)
|
rs2128398514
|
|
NM_001376.5(DYNC1H1):c.7979T>G (p.Val2660Gly)
|
rs201272954
|
|
NM_001378120.1(MBD5):c.2605G>A (p.Val869Ile)
|
rs116207524
|
|
NM_001378615.1(CC2D2A):c.676GAA[3] (p.Glu229del)
|
rs386833764
|
|
NM_001379029.1(CERT1):c.349-3dup
|
rs540751366
|
|
NM_001379500.1(COL18A1):c.2829_2846del (p.938PGP[2])
|
rs78227997
|
|
NM_001429.4(EP300):c.6798_6800del (p.Gln2268del)
|
rs533875300
|
|
NM_001493.3(GDI1):c.491A>C (p.Gln164Pro)
|
rs1032352955
|
|
NM_001609.4(ACADSB):c.1128+20_1128+26dup
|
rs10571424
|
|
NM_002485.5(NBN):c.2020G>A (p.Gly674Ser)
|
rs1563513091
|
|
NM_002485.5(NBN):c.320+40G>T
|
rs749797574
|
|
NM_002485.5(NBN):c.584+7T>A
|
rs1057523869
|
|
NM_002485.5(NBN):c.832T>G (p.Ser278Ala)
|
rs1225178489
|
|
NM_002529.4(NTRK1):c.1501+35GT[12]
|
rs56185968
|
|
NM_002691.4(POLD1):c.1686+43G>T
|
rs201197467
|
|
NM_002691.4(POLD1):c.2155-5G>A
|
rs891420901
|
|
NM_002691.4(POLD1):c.2157C>T (p.Ser719=)
|
rs760678755
|
|
NM_002691.4(POLD1):c.3067+11del
|
rs780881147
|
|
NM_002691.4(POLD1):c.3121-33G>C
|
rs376468859
|
|
NM_002691.4(POLD1):c.657C>T (p.Leu219=)
|
rs777751728
|
|
NM_002691.4(POLD1):c.900G>A (p.Pro300=)
|
rs142407935
|
|
NM_002734.5(PRKAR1A):c.349-5T>C
|
rs1456043929
|
|
NM_002834.5(PTPN11):c.643-61_643-38del
|
rs1592831434
|
|
NM_002875.5(RAD51):c.1dup (p.Met1fs)
|
rs55714242
|
|
NM_002875.5(RAD51):c.671C>G (p.Ala224Gly)
|
|
|
NM_002878.4(RAD51D):c.263+1551G>T
|
rs780006577
|
|
NM_002907.4(RECQL):c.-67T>C
|
rs1172083327
|
|
NM_002907.4(RECQL):c.214+6C>T
|
rs768701992
|
|
NM_002907.4(RECQL):c.395-7del
|
rs1591984814
|
|
NM_003072.5(SMARCA4):c.2297T>G (p.Val766Gly)
|
rs201128299
|
|
NM_003413.4(ZIC3):c.135CGC[8] (p.Ala55del)
|
rs748325646
|
|
NM_003482.4(KMT2D):c.14140A>T (p.Ile4714Phe)
|
rs1592110609
|
|
NM_003482.4(KMT2D):c.2250_2276del (p.746RPEEPHLSP[1])
|
rs587778449
|
|
NM_003482.4(KMT2D):c.8046+4del
|
rs1592133674
|
|
NM_003673.4(TCAP):c.34GAG[1] (p.Glu13del)
|
rs397516862
|
|
NM_003719.5(PDE8B):c.1031T>G (p.Val344Gly)
|
rs767230883
|
|
NM_003722.5(TP63):c.1350-6315C>A
|
rs1577182394
|
|
NM_003722.5(TP63):c.325-18543_325-18542insAGAG
|
rs34201045
|
|
NM_003865.3(HESX1):c.460-7A>G
|
rs1579346889
|
|
NM_004006.3(DMD):c.1098A>T (p.Gly366=)
|
rs72470507
|
|
NM_004006.3(DMD):c.1412C>T (p.Thr471Ile)
|
rs201058100
|
|
NM_004006.3(DMD):c.3603G>A (p.Lys1201=)
|
rs1265370991
|
|
NM_004006.3(DMD):c.5326-11_5326-7dup
|
rs398123988
|
|
NM_004006.3(DMD):c.94-1G>T
|
rs863225016
|
|
NM_004006.3(DMD):c.94-2A>T
|
rs1603448428
|
|
NM_004168.4(SDHA):c.622-7C>T
|
rs759371428
|
|
NM_004172.5(SLC1A3):c.745T>G (p.Phe249Val)
|
rs547834086
|
|
NM_004316.4(ASCL1):c.121G>T (p.Ala41Ser)
|
rs545982257
|
|
NM_004333.6(BRAF):c.1310G>A (p.Arg437Gln)
|
rs998233805
|
|
NM_004360.5(CDH1):c.*179G>T
|
rs1596977076
|
|
NM_004360.5(CDH1):c.*780del
|
rs968192426
|
|
NM_004360.5(CDH1):c.-57C>T
|
rs981792194
|
|
NM_004360.5(CDH1):c.1416C>T (p.Thr472=)
|
rs139937234
|
|
NM_004360.5(CDH1):c.32TGC[4] (p.Leu15del)
|
rs587782476
|
|
NM_004360.5(CDH1):c.687+56del
|
rs771109236
|
|
NM_004380.3(CREBBP):c.2383_2400dup (p.Pro795_Pro800dup)
|
rs1596895167
|
|
NM_004380.3(CREBBP):c.712G>C (p.Val238Leu)
|
rs146887252
|
|
NM_004577.4(PSPH):c.95A>G (p.Asp32Gly)
|
rs78599516
|
|
NM_004628.5(XPC):c.2348C>T (p.Ala783Val)
|
|
|
NM_004807.3(HS6ST1):c.1112G>A (p.Arg371His)
|
rs147436494
|
|
NM_004807.3(HS6ST1):c.261C>A (p.Asp87Glu)
|
rs200979099
|
|
NM_004807.3(HS6ST1):c.745C>A (p.Arg249Ser)
|
rs3958533
|
|
NM_004933.3(CDH15):c.1999_2004del (p.Tyr667_Asp668del)
|
rs749690403
|
|
NM_004933.3(CDH15):c.767A>T (p.Asn256Ile)
|
rs756845157
|
|
NM_004963.4(GUCY2C):c.2155G>C (p.Glu719Gln)
|
rs895214647
|
|
NM_004963.4(GUCY2C):c.949-5T>G
|
rs1403237949
|
|
NM_004977.3(KCNC3):c.1737ACCCCCGCC[1] (p.Pro583_Pro585del)
|
rs747618525
|
|
NM_005215.4(DCC):c.3703A>C (p.Met1235Leu)
|
rs1284447482
|
|
NM_005219.5(DIAPH1):c.3152C>T (p.Ser1051Phe)
|
rs868531732
|
|
NM_005228.5(EGFR):c.-106G>A
|
rs895139219
|
|
NM_005228.5(EGFR):c.1472T>C (p.Ile491Thr)
|
rs1584190119
|
|
NM_005228.5(EGFR):c.1920-100A>G
|
rs1584221726
|
|
NM_005228.5(EGFR):c.2896A>G (p.Ile966Val)
|
rs1383485737
|
|
NM_005228.5(EGFR):c.3245T>G (p.Ile1082Arg)
|
rs1051476261
|
|
NM_005228.5(EGFR):c.509G>A (p.Ser170Asn)
|
rs758945260
|
|
NM_005228.5(EGFR):c.551T>A (p.Leu184Gln)
|
rs921852102
|
|
NM_005228.5(EGFR):c.551T>C (p.Leu184Pro)
|
rs921852102
|
|
NM_005236.3(ERCC4):c.1102+36dup
|
rs761458435
|
|
NM_005263.5(GFI1):c.-100+686C>A
|
rs1018517928
|
|
NM_005360.5(MAF):c.-30GGC[4]
|
rs5818251
|
|
NM_005445.4(SMC3):c.2215A>G (p.Met739Val)
|
rs1590567950
|
|
NM_005475.3(SH2B3):c.1493T>C (p.Leu498Pro)
|
|
|
NM_005634.3(SOX3):c.14G>C (p.Arg5Pro)
|
rs112180170
|
|
NM_006005.3(WFS1):c.1294C>G (p.Leu432Val)
|
rs35031397
|
|
NM_006015.6(ARID1A):c.5015T>G (p.Val1672Gly)
|
rs749291779
|
|
NM_006218.4(PIK3CA):c.1743C>T (p.Ala581=)
|
rs370692448
|
|
NM_006231.4(POLE):c.1520T>C (p.Val507Ala)
|
rs904849438
|
|
NM_006231.4(POLE):c.2090C>G (p.Pro697Arg)
|
rs36120395
|
|
NM_006231.4(POLE):c.2340G>C (p.Ser780=)
|
rs5744822
|
|
NM_006231.4(POLE):c.2811C>T (p.Tyr937=)
|
rs1593777350
|
|
NM_006231.4(POLE):c.2865-17_2865-14dup
|
rs369732588
|
|
NM_006231.4(POLE):c.2865-3C>T
|
rs1203095918
|
|
NM_006231.4(POLE):c.2865-3_2865del
|
rs1593776411
|
|
NM_006231.4(POLE):c.3275+38_3275+88del
|
rs1565955594
|
|
NM_006231.4(POLE):c.3582+34G>A
|
rs753702996
|
|
NM_006231.4(POLE):c.4645C>G (p.Pro1549Ala)
|
rs147500308
|
|
NM_006231.4(POLE):c.5679-3C>T
|
rs1555221512
|
|
NM_006231.4(POLE):c.6137-50C>T
|
rs779908266
|
|
NM_006231.4(POLE):c.6334C>T (p.Leu2112=)
|
rs373443211
|
|
NM_006231.4(POLE):c.6765C>T (p.Ile2255=)
|
rs376336585
|
|
NM_006265.3(RAD21):c.815-17_815-5del
|
rs35902828
|
|
NM_006415.4(SPTLC1):c.1160G>C (p.Gly387Ala)
|
rs119482084
|
|
NM_006514.4(SCN10A):c.1246AAG[1] (p.Lys417del)
|
rs758898721
|
|
NM_006514.4(SCN10A):c.41G>T (p.Arg14Leu)
|
rs141207048
|
|
NM_006662.3(SRCAP):c.2752A>C (p.Thr918Pro)
|
rs756223991
|
|
NM_006766.5(KAT6A):c.5040_5051del (p.1677_1680QQPQ[1])
|
rs548231613
|
|
NM_006812.4(OS9):c.993+5G>A
|
|
|
NM_007194.4(CHEK2):c.319+3851G>T
|
rs1601841500
|
|
NM_007194.4(CHEK2):c.319+3980C>T
|
rs1045958480
|
|
NM_007194.4(CHEK2):c.444+9T>C
|
rs1437978013
|
|
NM_007194.4(CHEK2):c.592+50A>C
|
rs17881298
|
|
NM_007194.4(CHEK2):c.593-2089T>C
|
rs1012399282
|
|
NM_007194.4(CHEK2):c.593-2151A>T
|
rs1411302770
|
|
NM_007194.4(CHEK2):c.593-2162_593-2156dup
|
rs199835095
|
|
NM_007194.4(CHEK2):c.99A>G (p.Ser33=)
|
rs925489951
|
|
NM_007294.4(BRCA1):c.*855_*873A[20]GAAAAAAAAAAAAAAAAAAAAAA[1]
|
rs59541324
|
|
NM_007294.4(BRCA1):c.*865_*873dup
|
rs59541324
|
|
NM_007294.4(BRCA1):c.-20+5T>C
|
rs1057524628
|
|
NM_007294.4(BRCA1):c.-53C>T
|
rs1597925819
|
|
NM_007294.4(BRCA1):c.1843TCT[1] (p.Ser616del)
|
rs80358329
|
|
NM_007294.4(BRCA1):c.2083G>T (p.Asp695Tyr)
|
rs28897681
|
|
NM_007294.4(BRCA1):c.2232T>G (p.Ala744=)
|
rs4986846
|
|
NM_007294.4(BRCA1):c.2859T>C (p.Cys953=)
|
rs1597867228
|
|
NM_007294.4(BRCA1):c.3600G>T (p.Gln1200His)
|
rs56214134
|
|
NM_007294.4(BRCA1):c.3627A>G (p.Leu1209=)
|
rs770579978
|
|
NM_007294.4(BRCA1):c.4096+43G>A
|
rs1597859241
|
|
NM_007294.4(BRCA1):c.4484+32A>G
|
rs1597838919
|
|
NM_007294.4(BRCA1):c.4676-44A>C
|
rs989129232
|
|
NM_007294.4(BRCA1):c.5064T>C (p.Val1688=)
|
rs1567771967
|
|
NM_007294.4(BRCA1):c.5153-31A>T
|
rs370536578
|
|
NM_007294.4(BRCA1):c.5333-873T>C
|
rs943672382
|
|
NM_007294.4(BRCA1):c.5468-49C>T
|
rs1597797362
|
|
NM_007294.4(BRCA1):c.594-16dup
|
rs1555593635
|
|
NM_007294.4(BRCA1):c.671-18_671-16del
|
rs398122354
|
|
NM_007294.4(BRCA1):c.81-14C>G
|
rs80358006
|
|
NM_007327.4(GRIN1):c.1782GGA[4] (p.Glu598del)
|
rs768704257
|
|
NM_007348.4(ATF6):c.1191G>T (p.Met397Ile)
|
rs1285628089
|
|
NM_012062.5(DNM1L):c.1571T>C (p.Leu524Ser)
|
rs1031075173
|
|
NM_012151.4(F8A1):c.1097C>G (p.Pro366Arg)
|
rs1603432445
|
|
NM_012330.4(KAT6B):c.4065GGA[3] (p.Glu1367_Glu1368del)
|
rs367634881
|
|
NM_012330.4(KAT6B):c.4079AAGAGGAAG[2] (p.Glu1366_Glu1368del)
|
rs375513122
|
|
NM_014210.4(EVI2A):c.386ACA[3] (p.Asn132del)
|
rs773381280
|
|
NM_014225.6(PPP2R1A):c.754G>A (p.Ala252Thr)
|
rs1369485535
|
|
NM_014423.4(AFF4):c.2108C>T (p.Ser703Leu)
|
rs1581278077
|
|
NM_014491.4(FOXP2):c.483ACAACAGCAGCA[3] (p.Gln188_Gln191dup)
|
rs761316361
|
|
NM_014515.7(CNOT2):c.*10_*23del (p.Ter541=)
|
rs35192504
|
|
NM_014675.5(CROCC):c.2707C>A (p.Arg903Ser)
|
rs114863724
|
|
NM_014846.4(WASHC5):c.420T>A (p.Cys140Ter)
|
rs148562491
|
|
NM_015100.4(POGZ):c.2789C>G (p.Pro930Arg)
|
rs145570114
|
|
NM_015166.4(MLC1):c.1052_1053insCGGGGAGGTGAGTGGCCTGTGGGGTGGGGGTGC (p.Val354_Ala355insSerGlyLeuTrpGlyGlyGlyAlaGlyGluVal)
|
rs745656804
|
|
NM_015278.5(SASH1):c.2642C>T (p.Pro881Leu)
|
|
|
NM_015443.4(KANSL1):c.2710GAG[1] (p.Glu905del)
|
rs551968687
|
|
NM_016169.4(SUFU):c.37A>C (p.Thr13Pro)
|
rs1456048322
|
|
NM_016222.4(DDX41):c.1302+3G>A
|
|
|
NM_016327.3(UPB1):c.47A>C (p.His16Pro)
|
rs199934207
|
|
NM_016373.4(WWOX):c.*200GGGCT[1]
|
rs144412859
|
|
NM_016734.3(PAX5):c.1013-6A>G
|
rs1587737218
|
|
NM_017617.5(NOTCH1):c.1045A>C (p.Thr349Pro)
|
rs200520088
|
|
NM_017617.5(NOTCH1):c.1756A>C (p.Thr586Pro)
|
rs764854903
|
|
NM_017617.5(NOTCH1):c.580A>C (p.Thr194Pro)
|
rs770333242
|
|
NM_017617.5(NOTCH1):c.931A>C (p.Thr311Pro)
|
rs202145498
|
|
NM_017649.5(CNNM2):c.2240A>G (p.Asn747Ser)
|
rs988049940
|
|
NM_017950.4(CCDC40):c.2832+332_2832+395del
|
rs1567813101
|
|
NM_018993.4(RIN2):c.1642G>A (p.Val548Met)
|
rs181298473
|
|
NM_020822.3(KCNT1):c.618G>T (p.Gln206His)
|
rs958688368
|
|
NM_020975.6(RET):c.2342A>G (p.Gln781Arg)
|
rs377767416
|
|
NM_020975.6(RET):c.2592T>C (p.Tyr864=)
|
rs1588877395
|
|
NM_020975.6(RET):c.2847A>G (p.Gly949=)
|
rs886046989
|
|
NM_020975.6(RET):c.44TGC[4] (p.Leu19del)
|
rs768132465
|
|
NM_020987.5(ANK3):c.1690-15_1690-14dup
|
rs34796699
|
|
NM_021072.4(HCN1):c.203GCG[4] (p.Gly72_Gly74del)
|
rs747975797
|
|
NM_021072.4(HCN1):c.203GCG[6] (p.Gly74del)
|
rs747975797
|
|
NM_021267.5(CERS1):c.248G>A (p.Arg83Gln)
|
rs1601197103
|
|
NM_021625.5(TRPV4):c.1675_1698del (p.Leu559_Leu566del)
|
rs1890129676
|
|
NM_022055.2(KCNK12):c.*8388G>T
|
rs1573613933
|
|
NM_022055.2(KCNK12):c.*8538C>T
|
|
|
NM_022124.6(CDH23):c.6433G>A (p.Val2145Met)
|
rs780523589
|
|
NM_022168.4(IFIH1):c.229C>T (p.Arg77Trp)
|
rs147278787
|
|
NM_024426.6(WT1):c.662-2031G>A
|
rs1005247939
|
|
NM_024675.4(PALB2):c.-23C>T
|
rs1597106322
|
|
NM_024675.4(PALB2):c.-66C>T
|
rs1597106467
|
|
NM_024675.4(PALB2):c.1089T>C (p.Asp363=)
|
rs1597097155
|
|
NM_024675.4(PALB2):c.1226A>G (p.Tyr409Cys)
|
rs878855097
|
|
NM_024675.4(PALB2):c.1685-28T>C
|
rs1597091553
|
|
NM_024675.4(PALB2):c.1917G>T (p.Glu639Asp)
|
rs1597090787
|
|
NM_024675.4(PALB2):c.212-50dup
|
rs759760268
|
|
NM_024675.4(PALB2):c.212-8C>T
|
rs1387711045
|
|
NM_024675.4(PALB2):c.212-9C>T
|
rs1555461884
|
|
NM_024675.4(PALB2):c.2961A>G (p.Gln987=)
|
rs1555459530
|
|
NM_024675.4(PALB2):c.2996+9del
|
rs769414858
|
|
NM_024675.4(PALB2):c.49-432A>G
|
rs1597102250
|
|
NM_024757.5(EHMT1):c.1553C>G (p.Pro518Arg)
|
rs1287556019
|
|
NM_024757.5(EHMT1):c.389_397del (p.Pro130_Leu132del)
|
rs1588328189
|
|
NM_025077.4(TOE1):c.52+76A>G
|
rs547694371
|
|
NM_030665.4(RAI1):c.3778GAG[1] (p.Glu1261del)
|
rs149716029
|
|
NM_031220.4(PITPNM3):c.2177T>G (p.Met726Arg)
|
rs761710050
|
|
NM_031407.7(HUWE1):c.4546C>G (p.Gln1516Glu)
|
rs1602910127
|
|
NM_032043.3(BRIP1):c.-165A>G
|
rs1603369145
|
|
NM_032043.3(BRIP1):c.1932A>T (p.Ser644=)
|
rs1603332998
|
|
NM_032043.3(BRIP1):c.1935+8G>T
|
rs767048212
|
|
NM_032043.3(BRIP1):c.2098-8C>T
|
rs917048033
|
|
NM_032043.3(BRIP1):c.2181A>G (p.Pro727=)
|
rs1603304559
|
|
NM_032043.3(BRIP1):c.2379+7C>T
|
rs1057520464
|
|
NM_032043.3(BRIP1):c.2905+31T>C
|
rs1603276473
|
|
NM_032043.3(BRIP1):c.3651G>T (p.Trp1217Cys)
|
rs542698396
|
|
NM_032043.3(BRIP1):c.380-6T>C
|
rs780921390
|
|
NM_032043.3(BRIP1):c.408A>C (p.Ala136=)
|
rs876660891
|
|
NM_032043.3(BRIP1):c.507+9_507+10del
|
rs747185394
|
|
NM_032043.3(BRIP1):c.588C>G (p.Asn196Lys)
|
rs758851721
|
|
NM_032977.4(CASP10):c.1321G>A (p.Ala441Thr)
|
rs760580885
|
|
NM_033163.5(FGF8):c.506C>T (p.Ala169Val)
|
rs1589809739
|
|
NM_033343.4(LHX4):c.608T>G (p.Val203Gly)
|
rs201275928
|
|
NM_054012.4(ASS1):c.323G>T (p.Arg108Leu)
|
rs35269064
|
|
NM_058195.4(CDKN2A):c.194-3653G>A
|
rs1800586
|
|
NM_058195.4(CDKN2A):c.194-3834C>G
|
rs917599759
|
|
NM_058195.4(CDKN2A):c.194-3853_194-3852insGCG
|
rs1587341124
|
|
NM_058195.4(CDKN2A):c.194-3854_194-3853insGTG
|
rs1587341128
|
|
NM_058216.3(RAD51C):c.115C>T (p.Leu39=)
|
rs759149207
|
|
NM_058216.3(RAD51C):c.145+15T>C
|
rs780116924
|
|
NM_058216.3(RAD51C):c.262C>T (p.Leu88=)
|
rs786201383
|
|
NM_058216.3(RAD51C):c.335G>C (p.Gly112Ala)
|
rs370212314
|
|
NM_058216.3(RAD51C):c.461A>G (p.Glu154Gly)
|
rs758847241
|
|
NM_145239.3(PRRT2):c.647C>G (p.Pro216Arg)
|
rs76335820
|
|
NM_152490.5(B3GALNT2):c.113-1376C>T
|
rs1572560402
|
|
NM_152490.5(B3GALNT2):c.113-1439dup
|
rs1572560624
|
|
NM_152564.5(VPS13B):c.9331-2_9331-1del
|
rs764288792
|
|
NM_152564.5(VPS13B):c.9337_9338del (p.Arg3113fs)
|
rs754443525
|
|
NM_172002.5(HSCB):c.-37C>T
|
rs1269754581
|
|
NM_172107.4(KCNQ2):c.1997C>T (p.Pro666Leu)
|
rs762130930
|
|
NM_174905.4(FAM98C):c.691CTC[2] (p.Leu233del)
|
rs137896913
|
|
NM_177438.3(DICER1):c.*30C>A
|
rs749282967
|
|
NM_177438.3(DICER1):c.*35C>A
|
rs756294748
|
|
NM_178857.6(RP1L1):c.3956_3957insAAGAAGAGAG (p.Val1320fs)
|
rs773894295
|
|
NM_178857.6(RP1L1):c.3970_3971insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAGG (p.Glu1323_Glu1324insGlyThrLysValIleGluGlyLeuGlnGluGluArgValGlnLeuGlu)
|
rs369606728
|
|
NM_178857.6(RP1L1):c.4018_4019insGGACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGAGG (p.Glu1339_Glu1340insGlyThrLysThrGluGluGlyLeuGlnGluGluGlyValGlnLeuGlu)
|
rs1585963477
|
|
NM_178857.6(RP1L1):c.4018_4019insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAGG (p.Glu1339_Glu1340insGlyThrLysValIleGluGlyLeuGlnGluGluArgValGlnLeuGlu)
|
rs1585963467
|
|
NM_178857.6(RP1L1):c.4018_4019insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGAGG (p.Glu1339_Glu1340insGlyThrLysValIleGluGlyLeuGlnGluGluGlyValGlnLeuGlu)
|
rs1585963475
|
|
NM_183357.3(ADCY5):c.3180T>G (p.Asp1060Glu)
|
rs2108194433
|
|
NM_198576.4(AGRN):c.2457G>C (p.Gly819=)
|
rs112039851
|
|
NM_198578.4(LRRK2):c.4883G>C (p.Arg1628Pro)
|
rs33949390
|
|
NM_201253.3(CRB1):c.275_276insT (p.Arg92fs)
|
rs1571848132
|
|
NM_201253.3(CRB1):c.287G>A (p.Cys96Tyr)
|
rs1571848190
|
|
NM_201253.3(CRB1):c.289_294del (p.Lys97_Cys98del)
|
rs1571848216
|
|
NM_207034.3(EDN3):c.565dup (p.Thr189fs)
|
rs11570344
|
|