NM_004360.5(CDH1):c.48+6C>T
|
rs3743674
|
0.80384
|
NM_004415.4(DSP):c.2091A>G (p.Gly697=)
|
rs2076304
|
0.76849
|
NM_000179.3(MSH6):c.3802-40C>G
|
rs3136367
|
0.73398
|
NM_000152.5(GAA):c.324T>C (p.Cys108=)
|
rs1800300
|
0.71989
|
NM_000152.5(GAA):c.2338G>A (p.Val780Ile)
|
rs1126690
|
0.71839
|
NM_000552.5(VWF):c.4641T>C (p.Thr1547=)
|
rs216310
|
0.71518
|
NM_000552.5(VWF):c.4141A>G (p.Thr1381Ala)
|
rs216311
|
0.71493
|
NM_014251.3(SLC25A13):c.328+6A>G
|
rs6957975
|
0.67687
|
NM_000152.5(GAA):c.596A>G (p.His199Arg)
|
rs1042393
|
0.65667
|
NM_000152.5(GAA):c.547-4C>G
|
rs3816256
|
0.65665
|
NM_000152.5(GAA):c.668G>A (p.Arg223His)
|
rs1042395
|
0.65662
|
NM_000152.5(GAA):c.955+12G>A
|
rs2252455
|
0.65487
|
NM_000152.5(GAA):c.1203G>A (p.Gln401=)
|
rs1800304
|
0.65453
|
NM_000243.3(MEFV):c.942C>T (p.Arg314=)
|
rs224213
|
0.61317
|
NM_000152.5(GAA):c.2553G>A (p.Gly851=)
|
rs1042397
|
0.57872
|
NM_000053.4(ATP7B):c.3419T>C (p.Val1140Ala)
|
rs1801249
|
0.57256
|
NM_000053.4(ATP7B):c.2855G>A (p.Arg952Lys)
|
rs732774
|
0.56484
|
NM_000053.4(ATP7B):c.2495A>G (p.Lys832Arg)
|
rs1061472
|
0.54674
|
NM_000179.3(MSH6):c.3556+146G>A
|
rs7562048
|
0.54192
|
NM_000053.4(ATP7B):c.3903+6C>T
|
rs2282057
|
0.53754
|
NM_000257.4(MYH7):c.189C>T (p.Thr63=)
|
rs2069540
|
0.51584
|
NM_000552.5(VWF):c.1451A>G (p.His484Arg)
|
rs1800378
|
0.51348
|
NM_000243.3(MEFV):c.306T>C (p.Asp102=)
|
rs224225
|
0.48544
|
NM_000243.3(MEFV):c.495C>A (p.Ala165=)
|
rs224223
|
0.48450
|
NM_000312.4(PROC):c.-50A>T
|
rs1799810
|
0.44475
|
NM_000257.4(MYH7):c.2967T>C (p.Ile989=)
|
rs7157716
|
0.43030
|
NM_000552.5(VWF):c.1548T>C (p.Tyr516=)
|
rs1800379
|
0.41956
|
NM_000053.4(ATP7B):c.1366G>C (p.Val456Leu)
|
rs1801244
|
0.41941
|
NM_000249.4(MLH1):c.1668-19A>G
|
rs9876116
|
0.41821
|
NM_000053.4(ATP7B):c.1216T>G (p.Ser406Ala)
|
rs1801243
|
0.41549
|
NM_000552.5(VWF):c.2365A>G (p.Thr789Ala)
|
rs1063856
|
0.40814
|
NM_000552.5(VWF):c.2385T>C (p.Tyr795=)
|
rs1063857
|
0.40791
|
NM_004329.3(BMPR1A):c.4C>A (p.Pro2Thr)
|
rs11528010
|
0.40719
|
NM_000243.3(MEFV):c.1760-30T>A
|
rs1231123
|
0.39404
|
NM_000540.3(RYR1):c.7835+5A>G
|
rs1469695
|
0.38217
|
NM_014251.3(SLC25A13):c.1194A>G (p.Leu398=)
|
rs2301629
|
0.34968
|
NM_000540.3(RYR1):c.8190T>C (p.Asp2730=)
|
rs2915951
|
0.33482
|
NM_000540.3(RYR1):c.7977G>A (p.Thr2659=)
|
rs2229144
|
0.33092
|
NM_000540.3(RYR1):c.8118T>C (p.Ile2706=)
|
rs2960340
|
0.33086
|
NM_000540.3(RYR1):c.8589T>C (p.Ser2863=)
|
rs2229146
|
0.32548
|
NM_000540.3(RYR1):c.9186A>G (p.Pro3062=)
|
rs2071089
|
0.32394
|
NM_000540.3(RYR1):c.8693-10G>C
|
rs2915958
|
0.32159
|
NM_000540.3(RYR1):c.8337G>A (p.Glu2779=)
|
rs2915952
|
0.32150
|
NM_000071.3(CBS):c.1080C>T (p.Ala360=)
|
rs1801181
|
0.30942
|
NM_007294.4(BRCA1):c.4485-63C>G
|
rs273900734
|
0.30900
|
NM_000130.5(F5):c.4095C>T (p.Thr1365=)
|
rs9332607
|
0.29522
|
NM_000257.4(MYH7):c.732C>T (p.Phe244=)
|
rs2069542
|
0.27385
|
NM_000312.4(PROC):c.768T>C (p.Asp256=)
|
rs5937
|
0.27234
|
NM_000552.5(VWF):c.2880G>A (p.Arg960=)
|
rs1800380
|
0.25897
|
NM_000540.3(RYR1):c.7614+10C>G
|
rs2960323
|
0.23284
|
NM_001099667.3(ARMS2):c.205G>T (p.Ala69Ser)
|
rs10490924
|
0.22973
|
NM_000243.3(MEFV):c.605G>A (p.Arg202Gln)
|
rs224222
|
0.20976
|
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser)
|
rs2071421
|
0.19530
|
NM_000540.3(RYR1):c.7863C>T (p.His2621=)
|
rs2229142
|
0.16420
|
NM_000455.5(STK11):c.920+7G>C
|
rs2075607
|
0.16357
|
NM_000130.5(F5):c.3853C>A (p.Leu1285Ile)
|
rs1046712
|
0.16155
|
NM_000552.5(VWF):c.6846A>G (p.Thr2282=)
|
rs1053523
|
0.15412
|
NM_004415.4(DSP):c.4535A>G (p.Tyr1512Cys)
|
rs2076299
|
0.13777
|
NM_000179.3(MSH6):c.260+22C>G
|
rs55927047
|
0.13136
|
NM_000540.3(RYR1):c.10687-7C>T
|
rs2960354
|
0.12378
|
NM_000540.3(RYR1):c.7098C>T (p.Pro2366=)
|
rs2229147
|
0.10248
|
NM_004360.5(CDH1):c.1937-13T>C
|
rs2276330
|
0.09635
|
NM_000036.3(AMPD1):c.34C>T (p.Gln12Ter)
|
rs17602729
|
0.08701
|
NM_000041.2(APOE):c.526C>T (p.Arg176Cys)
|
rs7412
|
0.07986
|
NM_000218.3(KCNQ1):c.1590+14T>C
|
rs11024034
|
0.07860
|
NM_003476.5(CSRP3):c.336G>A (p.Ala112=)
|
rs13451
|
0.07238
|
NM_000155.4(GALT):c.940A>G (p.Asn314Asp)
|
rs2070074
|
0.07150
|
NM_000540.3(RYR1):c.7089C>T (p.Cys2363=)
|
rs2228071
|
0.06536
|
NM_000257.4(MYH7):c.1062C>T (p.Gly354=)
|
rs735712
|
0.06133
|
NM_000130.5(F5):c.730+7C>T
|
rs6023
|
0.05754
|
NM_000540.3(RYR1):c.13317C>T (p.Ala4439=)
|
rs113579185
|
0.04642
|
NM_000123.4(ERCC5):c.1586G>C (p.Cys529Ser)
|
rs2227869
|
0.04366
|
NM_000155.4(GALT):c.945T>C (p.His315=)
|
rs61735982
|
0.03311
|
NM_000036.3(AMPD1):c.860A>T (p.Lys287Ile)
|
rs34526199
|
0.02732
|
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln)
|
rs3743930
|
0.02112
|
NM_001365951.3(KIF1B):c.2115+6753A>G
|
rs41274462
|
0.01960
|
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser)
|
rs11466023
|
0.01590
|
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln)
|
rs11466024
|
0.01456
|
NM_014915.3(ANKRD26):c.3384G>A (p.Lys1128=)
|
rs41299210
|
0.01449
|
NM_005612.5(REST):c.2443C>T (p.Pro815Ser)
|
rs114282228
|
0.01389
|
NM_000237.3(LPL):c.953A>G (p.Asn318Ser)
|
rs268
|
0.01327
|
NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln)
|
rs4149584
|
0.01206
|
NM_000410.4(HFE):c.193A>T (p.Ser65Cys)
|
rs1800730
|
0.01042
|
NM_004360.5(CDH1):c.-71C>G
|
rs34033771
|
0.00927
|
NM_001510.4(GRID2):c.1203T>C (p.Leu401=)
|
rs80091080
|
0.00850
|
NM_002439.5(MSH3):c.1567G>A (p.Glu523Lys)
|
rs34058399
|
0.00789
|
NM_002386.4(MC1R):c.464T>C (p.Ile155Thr)
|
rs1110400
|
0.00675
|
NM_000249.4(MLH1):c.589-15C>T
|
rs55658850
|
0.00582
|
NM_002386.4(MC1R):c.252C>A (p.Asp84Glu)
|
rs1805006
|
0.00553
|
NM_212482.4(FN1):c.4486C>T (p.Arg1496Trp)
|
rs139078629
|
0.00542
|
NM_001048174.2(MUTYH):c.421-4A>G
|
rs201678305
|
0.00541
|
NM_000275.3(OCA2):c.79G>A (p.Gly27Arg)
|
rs61738394
|
0.00532
|
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser)
|
rs147099630
|
0.00521
|
NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile)
|
rs146722795
|
0.00506
|
NM_001987.5(ETV6):c.602T>C (p.Leu201Pro)
|
rs145477191
|
0.00501
|
NM_031372.4(HNRNPDL):c.125T>C (p.Leu42Pro)
|
rs61729823
|
0.00443
|
NM_007027.4(TOPBP1):c.3371+9C>T
|
rs138529143
|
0.00411
|
NM_000249.4(MLH1):c.1852A>G (p.Lys618Glu)
|
rs35001569
|
0.00399
|
NM_000249.4(MLH1):c.307-29C>A
|
rs139620056
|
0.00398
|
NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys)
|
rs16024
|
0.00390
|
NM_001098.3(ACO2):c.220C>G (p.Leu74Val)
|
rs141772938
|
0.00383
|
NM_000123.4(ERCC5):c.2877A>C (p.Arg959Ser)
|
rs41281674
|
0.00373
|
NM_001184.4(ATR):c.2290A>G (p.Lys764Glu)
|
rs77208665
|
0.00340
|
NM_000338.3(SLC12A1):c.347G>A (p.Arg116His)
|
rs34819316
|
0.00334
|
NM_198407.2(GHSR):c.531C>A (p.Pro177=)
|
rs4988509
|
0.00334
|
NM_000243.3(MEFV):c.910G>A (p.Gly304Arg)
|
rs75977701
|
0.00316
|
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu)
|
rs41292677
|
0.00308
|
NM_000249.4(MLH1):c.1963A>G (p.Ile655Val)
|
rs55907433
|
0.00297
|
NM_198578.4(LRRK2):c.5163A>G (p.Ser1721=)
|
rs79909111
|
0.00293
|
NM_016953.4(PDE11A):c.919C>T (p.Arg307Ter)
|
rs76308115
|
0.00292
|
NM_000352.6(ABCC8):c.1858C>T (p.Arg620Cys)
|
rs58241708
|
0.00272
|
NM_000298.6(PKLR):c.829G>A (p.Glu277Lys)
|
rs147689373
|
0.00269
|
NM_003105.6(SORL1):c.5448T>C (p.Tyr1816=)
|
rs150315143
|
0.00262
|
NM_182914.3(SYNE2):c.20410G>A (p.Asp6804Asn)
|
rs150644129
|
0.00259
|
NM_000542.5(SFTPB):c.403G>A (p.Gly135Ser)
|
rs35373464
|
0.00256
|
NM_000179.3(MSH6):c.3911G>A (p.Arg1304Lys)
|
rs34625968
|
0.00253
|
NM_001349253.2(SCN11A):c.601A>T (p.Ile201Phe)
|
rs139915721
|
0.00249
|
NM_000255.4(MMUT):c.205A>G (p.Ile69Val)
|
rs115923556
|
0.00243
|
NM_000179.3(MSH6):c.3439-16C>T
|
rs192614006
|
0.00237
|
NM_002439.5(MSH3):c.2732T>G (p.Leu911Trp)
|
rs41545019
|
0.00233
|
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala)
|
rs147222255
|
0.00223
|
NM_144773.4(PROKR2):c.518T>G (p.Leu173Arg)
|
rs74315416
|
0.00220
|
NM_001001557.4(GDF6):c.112G>C (p.Gly38Arg)
|
rs139075817
|
0.00217
|
NM_001130438.3(SPTAN1):c.1303T>G (p.Ser435Ala)
|
rs144787939
|
0.00217
|
NM_001142800.2(EYS):c.788A>G (p.His263Arg)
|
rs139517572
|
0.00213
|
NM_000441.1(SLC26A4):c.-103T>C
|
rs60284988
|
0.00209
|
NM_005236.3(ERCC4):c.2117T>C (p.Ile706Thr)
|
rs1800069
|
0.00190
|
NM_001171.6(ABCC6):c.3064C>G (p.Gln1022Glu)
|
rs57179857
|
0.00186
|
NM_000466.3(PEX1):c.637C>T (p.Leu213Phe)
|
rs141798874
|
0.00185
|
NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro)
|
rs139007661
|
0.00179
|
NM_002253.4(KDR):c.1384T>G (p.Leu462Val)
|
rs56286620
|
0.00175
|
NM_001151.4(SLC25A4):c.490A>G (p.Ile164Val)
|
rs143511445
|
0.00173
|
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His)
|
rs143987857
|
0.00171
|
NM_024996.7(GFM1):c.788A>G (p.Gln263Arg)
|
rs115984741
|
0.00158
|
NM_003079.5(SMARCE1):c.1079G>A (p.Gly360Asp)
|
rs142193069
|
0.00143
|
NM_000601.6(HGF):c.137C>T (p.Ala46Val)
|
rs150267054
|
0.00139
|
NM_173076.3(ABCA12):c.2033A>G (p.Asn678Ser)
|
rs147218173
|
0.00138
|
NM_181882.3(PRX):c.1574T>C (p.Val525Ala)
|
rs149715830
|
0.00136
|
NM_032119.4(ADGRV1):c.11974G>A (p.Asp3992Asn)
|
rs201386977
|
0.00131
|
NM_004655.4(AXIN2):c.1807G>C (p.Ala603Pro)
|
rs145353986
|
0.00128
|
NM_001130438.3(SPTAN1):c.1330G>A (p.Val444Ile)
|
rs77358650
|
0.00127
|
NM_012232.6(CAVIN1):c.540G>A (p.Glu180=)
|
rs143511306
|
0.00124
|
NM_000249.4(MLH1):c.-28A>G
|
rs56198082
|
0.00110
|
NM_000094.4(COL7A1):c.8371C>T (p.Arg2791Trp)
|
rs142566193
|
0.00109
|
NM_001368894.2(PAX6):c.141+55G>A
|
rs571151963
|
0.00101
|
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys)
|
rs55716624
|
0.00100
|
NM_000094.4(COL7A1):c.5819C>T (p.Pro1940Leu)
|
rs149267939
|
0.00098
|
NM_004407.4(DMP1):c.1151G>A (p.Ser384Asn)
|
rs148498977
|
0.00092
|
NM_173076.3(ABCA12):c.3481A>T (p.Met1161Leu)
|
rs141077206
|
0.00092
|
NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys)
|
rs201680145
|
0.00089
|
NM_001377265.1(MAPT):c.1891G>A (p.Ala631Thr)
|
rs63750096
|
0.00085
|
NM_004621.6(TRPC6):c.1260G>A (p.Leu420=)
|
rs138155461
|
0.00085
|
NM_198578.4(LRRK2):c.2378G>T (p.Arg793Met)
|
rs35173587
|
0.00085
|
NM_032119.4(ADGRV1):c.9447+6G>A
|
rs201481219
|
0.00083
|
NM_001378969.1(KCND3):c.1573A>G (p.Met525Val)
|
rs145890206
|
0.00076
|
NM_006231.4(POLE):c.6004+11A>G
|
rs201591857
|
0.00071
|
NM_177438.3(DICER1):c.59C>T (p.Ala20Val)
|
rs147660793
|
0.00070
|
NM_000335.5(SCN5A):c.647C>T (p.Ser216Leu)
|
rs41276525
|
0.00065
|
NM_004807.3(HS6ST1):c.1144C>T (p.Arg382Trp)
|
rs199538589
|
0.00063
|
NM_001009944.3(PKD1):c.4856C>T (p.Ser1619Phe)
|
rs146723506
|
0.00061
|
NM_006767.4(LZTR1):c.1723G>A (p.Asp575Asn)
|
rs139368531
|
0.00061
|
NM_004168.4(SDHA):c.133G>A (p.Ala45Thr)
|
rs140736646
|
0.00060
|
NM_000535.7(PMS2):c.86G>C (p.Gly29Ala)
|
rs146176004
|
0.00059
|
NM_000208.4(INSR):c.1550A>G (p.Glu517Gly)
|
rs147671523
|
0.00058
|
NM_173076.3(ABCA12):c.5221C>T (p.Arg1741Cys)
|
rs141036904
|
0.00058
|
NM_000349.3(STAR):c.179-14G>A
|
rs117578796
|
0.00057
|
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser)
|
rs192766485
|
0.00057
|
NM_007194.4(CHEK2):c.793-11G>A
|
rs5997387
|
0.00054
|
NM_016239.4(MYO15A):c.3359G>A (p.Arg1120His)
|
rs200738532
|
0.00053
|
NM_005529.7(HSPG2):c.11072C>T (p.Thr3691Ile)
|
rs149159881
|
0.00049
|
NM_006231.4(POLE):c.4730A>C (p.Glu1577Ala)
|
rs5744948
|
0.00049
|
NM_001040108.2(MLH3):c.2911G>A (p.Val971Ile)
|
rs41555714
|
0.00048
|
NM_001395656.1(ROBO2):c.3267G>A (p.Thr1089=)
|
rs200783298
|
0.00047
|
NM_198834.3(ACACA):c.3132C>G (p.Asp1044Glu)
|
rs140628687
|
0.00047
|
NM_003467.3(CXCR4):c.157A>C (p.Ile53Leu)
|
rs56400844
|
0.00045
|
NM_005562.3(LAMC2):c.599C>A (p.Ala200Glu)
|
rs138266625
|
0.00042
|
NM_000249.4(MLH1):c.198C>T (p.Thr66=)
|
rs61751642
|
0.00040
|
NM_005591.4(MRE11):c.1727G>A (p.Arg576Gln)
|
rs139461096
|
0.00038
|
NM_001349253.2(SCN11A):c.1257G>T (p.Lys419Asn)
|
rs150269814
|
0.00036
|
NM_000222.3(KIT):c.821C>T (p.Thr274Met)
|
rs138585275
|
0.00035
|
NM_000369.5(TSHR):c.2161G>T (p.Val721Phe)
|
rs61745409
|
0.00035
|
NM_003659.4(AGPS):c.148C>T (p.Arg50Trp)
|
rs778087162
|
0.00034
|
NM_006231.4(POLE):c.4246G>A (p.Ala1416Thr)
|
rs146711942
|
0.00034
|
NM_001288705.3(CSF1R):c.2746G>A (p.Glu916Lys)
|
rs142435467
|
0.00033
|
NM_001048174.2(MUTYH):c.1392+2C>T
|
rs140288388
|
0.00031
|
NM_014363.6(SACS):c.2580A>G (p.Gln860=)
|
rs41283958
|
0.00031
|
NM_000136.3(FANCC):c.973G>A (p.Ala325Thr)
|
rs201407189
|
0.00028
|
NM_002439.5(MSH3):c.356C>T (p.Ser119Phe)
|
rs144607594
|
0.00028
|
NM_003571.4(BFSP2):c.1115C>T (p.Ala372Val)
|
rs139944598
|
0.00025
|
NM_000038.6(APC):c.5274T>A (p.Ser1758=)
|
rs199600387
|
0.00024
|
NM_000350.3(ABCA4):c.3758C>T (p.Thr1253Met)
|
rs61752424
|
0.00024
|
NM_205861.3(DHDDS):c.908C>T (p.Ser303Leu)
|
rs141852437
|
0.00024
|
NM_000059.4(BRCA2):c.9502-12T>G
|
rs81002803
|
0.00022
|
NM_001009944.3(PKD1):c.3679G>T (p.Ala1227Ser)
|
rs150710956
|
0.00022
|
NM_004360.5(CDH1):c.1018A>G (p.Thr340Ala)
|
rs116093741
|
0.00022
|
NM_005228.5(EGFR):c.844G>A (p.Glu282Lys)
|
rs199796955
|
0.00022
|
NM_000330.4(RS1):c.264G>C (p.Gln88His)
|
rs201680258
|
0.00021
|
NM_000492.4(CFTR):c.1312A>G (p.Thr438Ala)
|
rs201434579
|
0.00021
|
NM_001909.5(CTSD):c.294G>A (p.Thr98=)
|
rs369373285
|
0.00019
|
NM_015330.6(SPECC1L):c.2440G>A (p.Val814Ile)
|
rs139167350
|
0.00019
|
NM_000251.3(MSH2):c.1730T>C (p.Ile577Thr)
|
rs63749910
|
0.00018
|
NM_000069.3(CACNA1S):c.262A>G (p.Lys88Glu)
|
rs140330831
|
0.00016
|
NM_000249.4(MLH1):c.2001C>T (p.Asp667=)
|
rs63750014
|
0.00014
|
NM_006231.4(POLE):c.4237G>A (p.Glu1413Lys)
|
rs372901803
|
0.00014
|
NM_001142864.4(PIEZO1):c.7099G>A (p.Glu2367Lys)
|
rs552562531
|
0.00012
|
NM_000435.3(NOTCH3):c.6809C>T (p.Thr2270Met)
|
rs148716935
|
0.00011
|
NM_000447.3(PSEN2):c.640G>T (p.Val214Leu)
|
rs574125890
|
0.00011
|
NM_002485.5(NBN):c.1035C>T (p.Gly345=)
|
rs146605798
|
0.00011
|
NM_003280.3(TNNC1):c.210C>T (p.Gly70=)
|
rs141505676
|
0.00010
|
NM_000059.4(BRCA2):c.506A>G (p.Lys169Arg)
|
rs80358730
|
0.00008
|
NM_000059.4(BRCA2):c.9501+3A>T
|
rs61757642
|
0.00008
|
NM_032383.5(HPS3):c.1773G>A (p.Thr591=)
|
rs559550536
|
0.00007
|
NM_000249.4(MLH1):c.2174G>A (p.Arg725His)
|
rs566928243
|
0.00006
|
NM_000251.3(MSH2):c.499G>C (p.Asp167His)
|
rs63750255
|
0.00006
|
NM_001854.4(COL11A1):c.3136G>A (p.Gly1046Arg)
|
rs760387652
|
0.00006
|
NM_002439.5(MSH3):c.169G>C (p.Ala57Pro)
|
rs144776112
|
0.00006
|
NM_007294.4(BRCA1):c.2412G>C (p.Gln804His)
|
rs55746541
|
0.00006
|
NM_007294.4(BRCA1):c.3739G>A (p.Val1247Ile)
|
rs80357191
|
0.00006
|
NM_007294.4(BRCA1):c.4213A>G (p.Ile1405Val)
|
rs80357353
|
0.00006
|
NM_024411.5(PDYN):c.268G>A (p.Gly90Arg)
|
rs201585283
|
0.00006
|
NM_000038.6(APC):c.7986G>A (p.Glu2662=)
|
rs571645304
|
0.00005
|
NM_000059.4(BRCA2):c.2550A>G (p.Gln850=)
|
rs80359785
|
0.00005
|
NM_001371623.1(TCOF1):c.3628C>T (p.Pro1210Ser)
|
rs558530968
|
0.00005
|
NM_015559.3(SETBP1):c.1202G>A (p.Arg401Gln)
|
rs144407969
|
0.00005
|
NM_000059.4(BRCA2):c.10222A>T (p.Lys3408Ter)
|
rs80358402
|
0.00004
|
NM_001048174.2(MUTYH):c.87C>T (p.Asn29=)
|
rs141679570
|
0.00004
|
NM_004974.4(KCNA2):c.972C>T (p.Ser324=)
|
rs765820644
|
0.00004
|
NM_007294.4(BRCA1):c.4357+17A>G
|
rs80358180
|
0.00004
|
NM_007294.4(BRCA1):c.4676-8C>G
|
rs80358021
|
0.00004
|
NM_007294.4(BRCA1):c.671-8A>G
|
rs80358144
|
0.00003
|
NM_032043.3(BRIP1):c.2324A>G (p.Asn775Ser)
|
rs571108955
|
0.00003
|
NM_000051.4(ATM):c.2085G>A (p.Leu695=)
|
rs786202229
|
0.00002
|
NM_000051.4(ATM):c.2124+14A>G
|
rs772719886
|
0.00002
|
NM_004360.5(CDH1):c.188G>A (p.Arg63Gln)
|
rs587780117
|
0.00002
|
NM_007294.4(BRCA1):c.2006T>C (p.Met669Thr)
|
rs80356895
|
0.00002
|
NM_007294.4(BRCA1):c.2662C>T (p.His888Tyr)
|
rs80357480
|
0.00002
|
NM_007294.4(BRCA1):c.3636A>G (p.Ser1212=)
|
rs148038877
|
0.00002
|
NM_007294.4(BRCA1):c.5576C>G (p.Pro1859Arg)
|
rs80357322
|
0.00002
|
NM_015559.3(SETBP1):c.2117A>G (p.Glu706Gly)
|
rs530739140
|
0.00002
|
NM_170601.5(SIAE):c.886C>T (p.Leu296Phe)
|
rs200609324
|
0.00002
|
NM_178857.6(RP1L1):c.434G>A (p.Arg145Gln)
|
rs373569904
|
0.00002
|
NM_000059.4(BRCA2):c.3672C>T (p.Gly1224=)
|
rs587780650
|
0.00001
|
NM_000059.4(BRCA2):c.9076C>G (p.Gln3026Glu)
|
rs80359159
|
0.00001
|
NM_000179.3(MSH6):c.3198T>C (p.Tyr1066=)
|
rs199643502
|
0.00001
|
NM_007294.4(BRCA1):c.1227A>G (p.Val409=)
|
rs149349675
|
0.00001
|
NM_007294.4(BRCA1):c.2597G>A (p.Arg866His)
|
rs80356911
|
0.00001
|
NM_007294.4(BRCA1):c.3448C>T (p.Pro1150Ser)
|
rs80357272
|
0.00001
|
NM_007294.4(BRCA1):c.4485-8C>T
|
rs397507234
|
0.00001
|
NM_007294.4(BRCA1):c.4816A>G (p.Lys1606Glu)
|
rs80356943
|
0.00001
|
NM_007294.4(BRCA1):c.508C>T (p.Arg170Trp)
|
rs80357325
|
0.00001
|
NM_007294.4(BRCA1):c.81-17C>G
|
rs757442952
|
0.00001
|
NM_014727.3(KMT2B):c.4199G>A (p.Arg1400His)
|
rs371324331
|
0.00001
|
NM_206933.4(USH2A):c.7334C>T (p.Ser2445Phe)
|
rs41315579
|
0.00001
|
NM_000033.4(ABCD1):c.1823G>A (p.Gly608Asp)
|
rs78993751
|
|
NM_000038.6(APC):c.423-4del
|
rs730881230
|
|
NM_000038.6(APC):c.6354TGC[5] (p.Ala2122dup)
|
rs587780602
|
|
NM_000053.4(ATP7B):c.-123_-119dupCGCCG
|
rs148013251
|
|
NM_000092.5(COL4A4):c.3018A>T (p.Arg1006Ser)
|
rs531161419
|
|
NM_000092.5(COL4A4):c.4760C>G (p.Pro1587Arg)
|
rs190148408
|
|
NM_000179.3(MSH6):c.3557-4del
|
rs267608102
|
|
NM_000179.3(MSH6):c.3646+35_3646+38del
|
rs1805181
|
|
NM_000218.3(KCNQ1):c.1986C>T (p.Tyr662=)
|
rs11601907
|
|
NM_000243.3(MEFV):c.414A>G (p.Gly138=)
|
rs224224
|
|
NM_000249.4(MLH1):c.*32CTT[1]
|
rs193922366
|
|
NM_000249.4(MLH1):c.1853A>C (p.Lys618Thr)
|
rs63750449
|
|
NM_000251.3(MSH2):c.212-4del
|
rs746333570
|
|
NM_000257.4(MYH7):c.3337-4dup
|
rs45504498
|
|
NM_000314.8(PTEN):c.210-7_210-3del
|
rs587780544
|
|
NM_000384.3(APOB):c.10913G>A (p.Arg3638Gln)
|
|
|
NM_000384.3(APOB):c.26TGGCGCTGC[1] (p.9LAL[1])
|
|
|
NM_000384.3(APOB):c.293C>T (p.Thr98Ile)
|
|
|
NM_000492.4(CFTR):c.1265C>T (p.Ser422Phe)
|
rs201880593
|
|
NM_000527.5(LDLR):c.1024G>A (p.Asp342Asn)
|
|
|
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln)
|
|
|
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile)
|
rs137853964
|
|
NM_000540.3(RYR1):c.10188C>T (p.Asp3396=)
|
rs2229145
|
|
NM_001018115.3(FANCD2):c.2022-5C>T
|
rs4019784
|
|
NM_001127381.1(PPP2R2B):c.-183_-181GCA[4]
|
rs10591869
|
|
NM_001142459.2(ASB10):c.731G>A (p.Arg244His)
|
rs104886476
|
|
NM_001190274.2(FBXO11):c.924G>C (p.Met308Ile)
|
rs1219431687
|
|
NM_002470.4(MYH3):c.5254G>T (p.Ala1752Ser)
|
rs34393601
|
|
NM_003072.5(SMARCA4):c.722_733del (p.229GP[6])
|
rs568390760
|
|
NM_003737.4(DCHS1):c.701C>G (p.Pro234Arg)
|
rs149022037
|
|
NM_004589.4(SCO1):c.16C>G (p.Leu6Val)
|
rs61753148
|
|
NM_004795.4(KL):c.2296G>A (p.Gly766Ser)
|
rs114752661
|
|
NM_004994.3(MMP9):c.782A>G (p.Asn261Ser)
|
rs144229833
|
|
NM_005245.4(FAT1):c.3349G>A (p.Val1117Met)
|
rs149295542
|
|
NM_005359.6(SMAD4):c.746_747delinsCC (p.Gln249Pro)
|
rs587782209
|
|
NM_007294.4(BRCA1):c.305C>G (p.Ala102Gly)
|
rs80357190
|
|
NM_007294.4(BRCA1):c.3328_3330del (p.Lys1110del)
|
rs80358335
|
|
NM_007294.4(BRCA1):c.3600G>T (p.Gln1200His)
|
rs56214134
|
|
NM_007294.4(BRCA1):c.548-58del
|
rs8176144
|
|
NM_014000.3(VCL):c.2862_2864del (p.Leu955del)
|
rs397517237
|
|
NM_014363.6(SACS):c.2926C>A (p.Arg976Ser)
|
rs139993038
|
|
NM_014727.3(KMT2B):c.7428C>A (p.Ala2476=)
|
rs368560676
|
|
NM_019098.5(CNGB3):c.2158CAAAAAGAAAATGAAGATAAA[1] (p.720QKENEDK[1])
|
rs746549330
|
|
NM_033343.4(LHX4):c.724_726del (p.Lys242del)
|
rs771109452
|
|
NM_138715.3(MSR1):c.877C>T (p.Arg293Ter)
|
rs41341748
|
|
NM_139076.3(ABRAXAS1):c.7G>C (p.Gly3Arg)
|
rs370520589
|
|
NM_172362.3(KCNH1):c.2962G>T (p.Ala988Ser)
|
rs371262198
|
|
NM_178857.6(RP1L1):c.3971A>G (p.Glu1324Gly)
|
rs4240659
|
|
NM_178857.6(RP1L1):c.4018_4019insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAGG (p.Glu1339_Glu1340insGlyThrLysValIleGluGlyLeuGlnGluGluArgValGlnLeuGlu)
|
rs1585963467
|
|
NM_194248.3(OTOF):c.2287G>A (p.Val763Ile)
|
rs138545671
|
|
NM_212482.4(FN1):c.6853+12C>G
|
rs111303746
|
|
Single allele
|
|
|