NM_000372.5(TYR):c.575C>A (p.Ser192Tyr)
|
rs1042602
|
0.24593
|
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln)
|
rs1126809
|
0.18094
|
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp)
|
rs1050829
|
0.08672
|
NM_001083116.3(PRF1):c.272C>T (p.Ala91Val)
|
rs35947132
|
0.02791
|
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_000543.5(SMPD1):c.887G>A (p.Arg296Gln)
|
rs35824453
|
0.01388
|
NM_022089.4(ATP13A2):c.881G>A (p.Arg294Gln)
|
rs56367069
|
0.01203
|
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr)
|
rs112239768
|
0.01081
|
NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys)
|
rs2230288
|
0.01061
|
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg)
|
rs34885143
|
0.01036
|
NM_001379610.1(SPINK1):c.200G>A (p.Arg67His)
|
rs35523678
|
0.01028
|
NM_000293.3(PHKB):c.555G>T (p.Met185Ile)
|
rs56257827
|
0.01025
|
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_006493.4(CLN5):c.579C>A (p.Asn193Lys)
|
rs138611001
|
0.00910
|
NM_024301.5(FKRP):c.341C>G (p.Ala114Gly)
|
rs143793528
|
0.00910
|
NM_000243.3(MEFV):c.2118G>A (p.Pro706=)
|
rs2234939
|
0.00864
|
NM_000552.5(VWF):c.2900G>A (p.Gly967Asp)
|
rs141087261
|
0.00842
|
NM_033028.5(BBS4):c.137A>G (p.Lys46Arg)
|
rs75295839
|
0.00687
|
NM_003002.4(SDHD):c.149A>G (p.His50Arg)
|
rs11214077
|
0.00679
|
NM_000264.5(PTCH1):c.2183C>T (p.Thr728Met)
|
rs115556836
|
0.00678
|
NM_001267550.2(TTN):c.48727C>T (p.Pro16243Ser)
|
rs72677242
|
0.00641
|
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys)
|
rs1800100
|
0.00625
|
NM_014336.5(AIPL1):c.937G>T (p.Ala313Ser)
|
rs115681466
|
0.00535
|
NM_005609.4(PYGM):c.645G>A (p.Lys215=)
|
rs116315896
|
0.00530
|
NM_000500.9(CYP21A2):c.719T>A (p.Met240Lys)
|
rs6476
|
0.00523
|
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser)
|
rs147099630
|
0.00521
|
NM_000292.3(PHKA2):c.1246G>A (p.Gly416Arg)
|
rs16980929
|
0.00520
|
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala)
|
rs1800098
|
0.00519
|
NM_003172.4(SURF1):c.604G>C (p.Asp202His)
|
rs72619327
|
0.00517
|
NM_170784.3(MKKS):c.724G>T (p.Ala242Ser)
|
rs74315394
|
0.00508
|
NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys)
|
rs144979397
|
0.00495
|
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val)
|
rs121908954
|
0.00491
|
NM_000163.5(GHR):c.535C>T (p.Arg179Cys)
|
rs121909362
|
0.00410
|
NM_001267550.2(TTN):c.9359G>A (p.Arg3120Gln)
|
rs72647894
|
0.00404
|
NM_000552.5(VWF):c.5170+10C>T
|
rs61750601
|
0.00400
|
NM_000022.4(ADA):c.425G>A (p.Arg142Gln)
|
rs61732239
|
0.00399
|
NM_000018.4(ACADVL):c.308A>G (p.Lys103Arg)
|
rs140566084
|
0.00391
|
NM_001098.3(ACO2):c.220C>G (p.Leu74Val)
|
rs141772938
|
0.00383
|
NM_006393.3(NEBL):c.180G>C (p.Lys60Asn)
|
rs41277374
|
0.00382
|
NM_152384.3(BBS5):c.551A>G (p.Asn184Ser)
|
rs137853921
|
0.00380
|
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn)
|
rs112822256
|
0.00379
|
NM_001267550.2(TTN):c.30274C>T (p.His10092Tyr)
|
rs72650011
|
0.00378
|
NM_001267550.2(TTN):c.98242C>T (p.Arg32748Cys)
|
rs72648272
|
0.00377
|
NM_138694.4(PKHD1):c.5125C>T (p.Leu1709Phe)
|
rs45517932
|
0.00371
|
NM_001267550.2(TTN):c.72931A>G (p.Thr24311Ala)
|
rs56201325
|
0.00364
|
NM_002693.3(POLG):c.803G>C (p.Gly268Ala)
|
rs61752784
|
0.00364
|
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr)
|
rs112029032
|
0.00361
|
NM_014336.5(AIPL1):c.140C>G (p.Thr47Arg)
|
rs150656720
|
0.00357
|
NM_000271.5(NPC1):c.2882A>G (p.Asn961Ser)
|
rs34084984
|
0.00352
|
NM_005502.4(ABCA1):c.1196T>C (p.Val399Ala)
|
rs9282543
|
0.00352
|
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His)
|
rs28383481
|
0.00347
|
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn)
|
rs201370621
|
0.00344
|
NM_001363711.2(DUOX2):c.1921G>A (p.Glu641Lys)
|
rs139161034
|
0.00343
|
NM_000426.4(LAMA2):c.4487C>T (p.Ala1496Val)
|
rs147077184
|
0.00338
|
NM_005472.5(KCNE3):c.248G>A (p.Arg83His)
|
rs17215437
|
0.00338
|
NM_015311.3(OBSL1):c.4732C>T (p.Gln1578Ter)
|
rs116131367
|
0.00337
|
NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys)
|
rs111540787
|
0.00332
|
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser)
|
rs55680026
|
0.00329
|
NM_001999.4(FBN2):c.4141C>A (p.His1381Asn)
|
rs78727187
|
0.00327
|
NR_003051.4(RMRP):n.129G>C
|
rs74810894
|
0.00319
|
NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu)
|
rs71534278
|
0.00318
|
NM_000243.3(MEFV):c.910G>A (p.Gly304Arg)
|
rs75977701
|
0.00316
|
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr)
|
rs28935490
|
0.00308
|
NM_000057.4(BLM):c.2160C>T (p.Ile720=)
|
rs28385028
|
0.00303
|
NM_030777.4(SLC2A10):c.674G>A (p.Arg225His)
|
rs34295241
|
0.00302
|
NM_001371596.2(MFSD8):c.1006G>C (p.Glu336Gln)
|
rs150418024
|
0.00299
|
NM_002691.4(POLD1):c.778A>G (p.Ile260Val)
|
rs8105725
|
0.00295
|
NM_000152.5(GAA):c.917C>T (p.Ser306Leu)
|
rs138097673
|
0.00292
|
NM_001458.5(FLNC):c.8003T>C (p.Met2668Thr)
|
rs200502811
|
0.00291
|
NM_015141.4(GPD1L):c.370A>G (p.Ile124Val)
|
rs72552293
|
0.00291
|
NM_198525.3(KIF7):c.1220C>A (p.Ala407Asp)
|
rs587780375
|
0.00286
|
NM_005215.4(DCC):c.2105A>G (p.Asn702Ser)
|
rs35691189
|
0.00284
|
NM_000518.5(HBB):c.*96T>C
|
rs34029390
|
0.00283
|
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met)
|
rs60986317
|
0.00282
|
NM_000552.5(VWF):c.4457C>T (p.Ser1486Leu)
|
rs149424724
|
0.00282
|
NM_000152.5(GAA):c.1552-13G>A
|
rs111261964
|
0.00276
|
NM_203447.4(DOCK8):c.4019A>G (p.Tyr1340Cys)
|
rs116920018
|
0.00276
|
NM_001267550.2(TTN):c.103147G>C (p.Glu34383Gln)
|
rs148525155
|
0.00274
|
NM_001267550.2(TTN):c.26863A>G (p.Ile8955Val)
|
rs72648994
|
0.00274
|
NM_000352.6(ABCC8):c.1858C>T (p.Arg620Cys)
|
rs58241708
|
0.00272
|
NM_004646.4(NPHS1):c.697A>G (p.Thr233Ala)
|
rs35238405
|
0.00270
|
NM_006949.4(STXBP2):c.49G>A (p.Gly17Arg)
|
rs146165014
|
0.00270
|
NM_025074.7(FRAS1):c.4648C>T (p.Leu1550Phe)
|
rs148663672
|
0.00269
|
NM_006514.4(SCN10A):c.3803G>A (p.Arg1268Gln)
|
rs138832868
|
0.00259
|
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro)
|
rs200302125
|
0.00257
|
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile)
|
rs146102241
|
0.00255
|
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly)
|
rs72648273
|
0.00253
|
NM_025074.7(FRAS1):c.4579C>T (p.Arg1527Trp)
|
rs1872267
|
0.00253
|
NM_000152.5(GAA):c.2481+16G>A
|
rs41292408
|
0.00252
|
NM_001037.5(SCN1B):c.28G>A (p.Gly10Ser)
|
rs72552027
|
0.00249
|
NM_000096.4(CP):c.1430C>T (p.Pro477Leu)
|
rs35331711
|
0.00242
|
NM_014908.4(DOLK):c.631C>T (p.Arg211Cys)
|
rs145310298
|
0.00238
|
NM_213599.3(ANO5):c.155A>G (p.Asn52Ser)
|
rs143777403
|
0.00238
|
NM_000136.3(FANCC):c.1156T>C (p.Ser386Pro)
|
rs41281202
|
0.00236
|
NM_000157.4(GBA1):c.1444G>A (p.Asp482Asn)
|
rs75671029
|
0.00236
|
NM_005609.4(PYGM):c.1537A>G (p.Ile513Val)
|
rs139570786
|
0.00232
|
NM_000465.4(BARD1):c.1977A>G (p.Arg659=)
|
rs147215925
|
0.00230
|
NM_006949.4(STXBP2):c.365G>A (p.Arg122His)
|
rs144914451
|
0.00229
|
NM_000053.4(ATP7B):c.2955C>T (p.Cys985=)
|
rs116587608
|
0.00227
|
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile)
|
rs61729954
|
0.00227
|
NM_001378454.1(ALMS1):c.1838G>A (p.Gly613Asp)
|
rs148040591
|
0.00225
|
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp)
|
rs201620358
|
0.00223
|
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala)
|
rs147222255
|
0.00223
|
NM_004937.3(CTNS):c.116C>T (p.Ser39Leu)
|
rs144751390
|
0.00219
|
NM_001079802.2(FKTN):c.167G>A (p.Arg56His)
|
rs146951171
|
0.00218
|
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala)
|
rs144942544
|
0.00217
|
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr)
|
rs41419545
|
0.00217
|
NM_001378454.1(ALMS1):c.8445A>G (p.Ser2815=)
|
rs137932254
|
0.00215
|
NM_004625.4(WNT7A):c.861G>A (p.Val287=)
|
rs149962459
|
0.00210
|
NM_002335.4(LRP5):c.3107G>A (p.Arg1036Gln)
|
rs61889560
|
0.00207
|
NM_001374385.1(ATP8B1):c.1286A>C (p.Glu429Ala)
|
rs34018205
|
0.00201
|
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu)
|
rs17883862
|
0.00201
|
NM_000153.4(GALC):c.525C>T (p.Val175=)
|
rs181066089
|
0.00199
|
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr)
|
rs146451611
|
0.00197
|
NM_000552.5(VWF):c.7059G>C (p.Glu2353Asp)
|
rs112319661
|
0.00195
|
NM_001267550.2(TTN):c.67099T>C (p.Ser22367Pro)
|
rs72646873
|
0.00195
|
NM_001267550.2(TTN):c.22634G>A (p.Arg7545Gln)
|
rs72648969
|
0.00193
|
NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu)
|
rs41311117
|
0.00192
|
NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn)
|
rs143340522
|
0.00192
|
NM_206933.4(USH2A):c.4586A>T (p.Lys1529Ile)
|
rs41303255
|
0.00190
|
NM_001267550.2(TTN):c.18659G>C (p.Cys6220Ser)
|
rs191692293
|
0.00188
|
NM_001164508.2(NEB):c.17497G>A (p.Val5833Ile)
|
rs149881695
|
0.00187
|
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His)
|
rs183655276
|
0.00187
|
NM_152384.3(BBS5):c.584A>G (p.Asp195Gly)
|
rs143191074
|
0.00187
|
NM_000051.4(ATM):c.1229T>C (p.Val410Ala)
|
rs56128736
|
0.00186
|
NM_001267550.2(TTN):c.81539T>C (p.Ile27180Thr)
|
rs182126530
|
0.00185
|
NM_001367624.2(ZNF469):c.10700G>A (p.Gly3567Glu)
|
rs199610834
|
0.00185
|
NM_007254.4(PNKP):c.416G>A (p.Arg139His)
|
rs34472250
|
0.00185
|
NM_001164508.2(NEB):c.21685G>C (p.Asp7229His)
|
rs201979610
|
0.00182
|
NM_003664.5(AP3B1):c.1069A>G (p.Ile357Val)
|
rs142025324
|
0.00182
|
NM_001164508.2(NEB):c.18579+6T>C
|
rs116189169
|
0.00180
|
NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro)
|
rs139007661
|
0.00179
|
NM_004655.4(AXIN2):c.2272G>A (p.Ala758Thr)
|
rs145007501
|
0.00179
|
NM_000129.4(F13A1):c.1730C>T (p.Thr577Met)
|
rs143711562
|
0.00178
|
NM_000152.5(GAA):c.2332-12A>T
|
rs200965268
|
0.00178
|
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln)
|
rs140551762
|
0.00178
|
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu)
|
rs116373169
|
0.00177
|
NM_004646.4(NPHS1):c.3562G>A (p.Ala1188Thr)
|
rs116700257
|
0.00177
|
NM_002691.4(POLD1):c.773C>T (p.Thr258Met)
|
rs76131127
|
0.00176
|
NM_001710.6(CFB):c.724A>C (p.Ile242Leu)
|
rs144812066
|
0.00175
|
NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val)
|
rs180922748
|
0.00174
|
NM_000426.4(LAMA2):c.2462C>T (p.Thr821Met)
|
rs117422805
|
0.00173
|
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser)
|
rs146077918
|
0.00172
|
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His)
|
rs143987857
|
0.00171
|
NM_000433.4(NCF2):c.1081A>T (p.Thr361Ser)
|
rs147744729
|
0.00169
|
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His)
|
rs137854475
|
0.00168
|
NM_000532.5(PCCB):c.774C>G (p.His258Gln)
|
rs141615209
|
0.00163
|
NM_001253852.3(AP4B1):c.755T>C (p.Val252Ala)
|
rs141417436
|
0.00163
|
NM_000096.4(CP):c.2684G>C (p.Gly895Ala)
|
rs139633388
|
0.00162
|
NM_199242.3(UNC13D):c.2341G>A (p.Val781Ile)
|
rs149871493
|
0.00162
|
NM_002691.4(POLD1):c.80A>T (p.Asp27Val)
|
rs150066950
|
0.00159
|
NM_032119.4(ADGRV1):c.3443G>A (p.Gly1148Asp)
|
rs200945405
|
0.00159
|
NM_032578.4(MYPN):c.1790G>A (p.Arg597His)
|
rs150911078
|
0.00158
|
NM_001126108.2(SLC12A3):c.965C>T (p.Ala322Val)
|
rs142679083
|
0.00157
|
NM_017777.4(MKS1):c.1349T>C (p.Ile450Thr)
|
rs200865108
|
0.00157
|
NM_182961.4(SYNE1):c.7433C>G (p.Ser2478Cys)
|
rs149030452
|
0.00156
|
NM_001366722.1(GRIP1):c.2381T>G (p.Met794Arg)
|
rs144494437
|
0.00155
|
NM_020366.4(RPGRIP1):c.1753C>T (p.Pro585Ser)
|
rs147586703
|
0.00155
|
NM_000022.4(ADA):c.402C>T (p.Gly134=)
|
rs146921882
|
0.00153
|
NM_000040.3(APOC3):c.55+1G>A
|
rs138326449
|
0.00153
|
NM_000465.4(BARD1):c.2282G>A (p.Ser761Asn)
|
rs142155101
|
0.00153
|
NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe)
|
rs111671438
|
0.00153
|
NM_002471.4(MYH6):c.1763A>C (p.Asp588Ala)
|
rs142992009
|
0.00153
|
NM_003193.5(TBCE):c.194C>A (p.Thr65Lys)
|
rs144747353
|
0.00153
|
NM_022081.6(HPS4):c.1700C>T (p.Ala567Val)
|
rs140234219
|
0.00153
|
NM_199242.3(UNC13D):c.227C>T (p.Thr76Met)
|
rs78028658
|
0.00153
|
NM_001366110.1(PAX4):c.133C>T (p.Arg45Trp)
|
rs35155575
|
0.00151
|
NM_000053.4(ATP7B):c.1620C>T (p.Leu540=)
|
rs145798966
|
0.00150
|
NM_001943.5(DSG2):c.166G>A (p.Val56Met)
|
rs121913013
|
0.00150
|
NM_000536.4(RAG2):c.1504A>G (p.Met502Val)
|
rs145614809
|
0.00149
|
NM_005422.4(TECTA):c.3097C>T (p.Arg1033Trp)
|
rs142486386
|
0.00149
|
NM_000081.4(LYST):c.6710A>C (p.Gln2237Pro)
|
rs138443479
|
0.00148
|
NM_001177316.2(SLC34A3):c.790G>A (p.Gly264Ser)
|
rs148072630
|
0.00148
|
NM_001366722.1(GRIP1):c.1756A>C (p.Ile586Leu)
|
rs189438534
|
0.00147
|
NM_001378454.1(ALMS1):c.2036A>G (p.Tyr679Cys)
|
rs199573929
|
0.00146
|
NM_007074.4(CORO1A):c.1189G>A (p.Val397Ile)
|
rs35967690
|
0.00146
|
NM_000433.4(NCF2):c.113G>A (p.Arg38Gln)
|
rs147415774
|
0.00145
|
NM_004168.4(SDHA):c.136A>G (p.Lys46Glu)
|
rs144599870
|
0.00145
|
NM_022436.3(ABCG5):c.957C>T (p.Ser319=)
|
rs146131711
|
0.00145
|
NM_032119.4(ADGRV1):c.5072C>T (p.Thr1691Met)
|
rs146954342
|
0.00145
|
NM_000195.5(HPS1):c.1888G>A (p.Val630Ile)
|
rs139061260
|
0.00144
|
NM_001134831.2(AHI1):c.2714G>C (p.Cys905Ser)
|
rs199879855
|
0.00144
|
NM_004415.4(DSP):c.2773C>T (p.Arg925Trp)
|
rs145933612
|
0.00143
|
NM_033118.4(MYLK2):c.4G>A (p.Ala2Thr)
|
rs117502839
|
0.00143
|
NM_000535.7(PMS2):c.2395C>T (p.Arg799Trp)
|
rs149202766
|
0.00142
|
NM_001032283.3(TMPO):c.565+1696C>T
|
rs141443652
|
0.00142
|
NM_005751.5(AKAP9):c.6037G>A (p.Glu2013Lys)
|
rs61757671
|
0.00142
|
NM_000057.4(BLM):c.2263A>G (p.Lys755Glu)
|
rs142551229
|
0.00140
|
NM_000719.7(CACNA1C):c.5918G>A (p.Arg1973Gln)
|
rs112414325
|
0.00140
|
NM_006214.4(PHYH):c.244C>G (p.Arg82Gly)
|
rs145404396
|
0.00140
|
NM_080911.3(UNG):c.246G>C (p.Leu82=)
|
rs144083363
|
0.00140
|
NM_001365276.2(TNXB):c.6649C>A (p.Pro2217Thr)
|
rs142409885
|
0.00139
|
NM_173076.3(ABCA12):c.2033A>G (p.Asn678Ser)
|
rs147218173
|
0.00138
|
NM_001384474.1(LOXHD1):c.5767C>G (p.Gln1923Glu)
|
rs377368588
|
0.00137
|
NM_000195.5(HPS1):c.1406A>G (p.Gln469Arg)
|
rs148978269
|
0.00133
|
NM_000243.3(MEFV):c.986G>A (p.Arg329His)
|
rs104895112
|
0.00133
|
NM_001388492.1(HTT):c.3244G>C (p.Asp1082His)
|
rs1065746
|
0.00133
|
NM_000528.4(MAN2B1):c.2260G>A (p.Glu754Lys)
|
rs141212446
|
0.00132
|
NM_000552.5(VWF):c.6303C>A (p.Gly2101=)
|
rs115914543
|
0.00132
|
NM_025074.7(FRAS1):c.7039G>T (p.Val2347Phe)
|
rs201369510
|
0.00131
|
NM_003322.6(TULP1):c.1376T>C (p.Ile459Thr)
|
rs121909075
|
0.00129
|
NM_001166114.2(PNPLA6):c.1109C>T (p.Pro370Leu)
|
rs200897068
|
0.00128
|
NM_004655.4(AXIN2):c.1807G>C (p.Ala603Pro)
|
rs145353986
|
0.00128
|
NM_004006.3(DMD):c.7183G>A (p.Ala2395Thr)
|
rs72466590
|
0.00126
|
NM_000135.4(FANCA):c.2859C>G (p.Asp953Glu)
|
rs149112292
|
0.00125
|
NM_000158.4(GBE1):c.15G>A (p.Met5Ile)
|
rs62267114
|
0.00125
|
NM_000552.5(VWF):c.546G>A (p.Ser182=)
|
rs143054357
|
0.00125
|
NM_005373.3(MPL):c.754T>C (p.Tyr252His)
|
rs141311765
|
0.00124
|
NM_004655.4(AXIN2):c.2428G>A (p.Asp810Asn)
|
rs140344858
|
0.00123
|
NM_181507.2(HPS5):c.2402G>A (p.Ser801Asn)
|
rs145135349
|
0.00123
|
NM_194248.3(OTOF):c.2381G>A (p.Arg794His)
|
rs80356592
|
0.00122
|
NM_206933.4(USH2A):c.14276G>A (p.Gly4759Glu)
|
rs112459877
|
0.00122
|
NM_005502.4(ABCA1):c.254C>T (p.Pro85Leu)
|
rs145183203
|
0.00121
|
NM_000064.4(C3):c.4855A>C (p.Ser1619Arg)
|
rs2230210
|
0.00118
|
NM_001267550.2(TTN):c.60721G>C (p.Glu20241Gln)
|
rs200212521
|
0.00117
|
NM_003184.4(TAF2):c.157A>G (p.Ile53Val)
|
rs112002462
|
0.00117
|
NM_018112.3(TMEM38B):c.748C>T (p.Pro250Ser)
|
rs140157299
|
0.00117
|
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys)
|
rs142000963
|
0.00117
|
NM_001267550.2(TTN):c.20341G>A (p.Glu6781Lys)
|
rs72648958
|
0.00116
|
NM_002878.4(RAD51D):c.146C>T (p.Ala49Val)
|
rs140317560
|
0.00116
|
NM_000057.4(BLM):c.3849G>A (p.Gln1283=)
|
rs140524886
|
0.00115
|
NM_000209.4(PDX1):c.725C>T (p.Pro242Leu)
|
rs193922358
|
0.00115
|
NM_032119.4(ADGRV1):c.2023A>C (p.Ile675Leu)
|
rs200187681
|
0.00115
|
NM_001267550.2(TTN):c.34566A>C (p.Glu11522Asp)
|
rs140640738
|
0.00113
|
NM_001267550.2(TTN):c.90536G>A (p.Arg30179His)
|
rs149567378
|
0.00113
|
NM_003673.4(TCAP):c.32C>T (p.Ser11Leu)
|
rs45495192
|
0.00113
|
NM_012210.4(TRIM32):c.1222C>T (p.Arg408Cys)
|
rs3747835
|
0.00113
|
NM_000044.6(AR):c.170T>A (p.Leu57Gln)
|
rs78686797
|
0.00112
|
NM_000152.5(GAA):c.2415G>A (p.Val805=)
|
rs150536507
|
0.00112
|
NM_022081.6(HPS4):c.557C>T (p.Ser186Leu)
|
rs61729175
|
0.00112
|
NM_201384.3(PLEC):c.4556C>T (p.Ser1519Leu)
|
rs182120395
|
0.00112
|
NM_001267550.2(TTN):c.18824A>G (p.Asn6275Ser)
|
rs184412722
|
0.00111
|
NM_003477.3(PDHX):c.589C>A (p.Leu197Met)
|
rs139052284
|
0.00111
|
NM_000098.3(CPT2):c.1025T>C (p.Met342Thr)
|
rs144658100
|
0.00110
|
NM_001267550.2(TTN):c.49919G>C (p.Ser16640Thr)
|
rs55663050
|
0.00110
|
NM_001267550.2(TTN):c.5668C>T (p.Arg1890Cys)
|
rs146496197
|
0.00110
|
NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp)
|
rs201043950
|
0.00110
|
NM_001999.4(FBN2):c.110C>A (p.Pro37Gln)
|
rs201255083
|
0.00110
|
NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser)
|
rs143978652
|
0.00110
|
NM_002691.4(POLD1):c.2275G>A (p.Val759Ile)
|
rs145473716
|
0.00110
|
NM_000059.4(BRCA2):c.1040A>G (p.Gln347Arg)
|
rs55800493
|
0.00109
|
NM_001267550.2(TTN):c.15563A>C (p.Gln5188Pro)
|
rs72648930
|
0.00109
|
NM_001134363.3(RBM20):c.530C>T (p.Thr177Ile)
|
rs183130427
|
0.00108
|
NM_001164508.2(NEB):c.23267T>C (p.Met7756Thr)
|
rs201767727
|
0.00108
|
NM_001267550.2(TTN):c.91765G>A (p.Ala30589Thr)
|
rs148617456
|
0.00108
|
NM_001267550.2(TTN):c.95297C>T (p.Ser31766Phe)
|
rs191484894
|
0.00108
|
NM_001267550.2(TTN):c.64789G>A (p.Val21597Met)
|
rs150661999
|
0.00107
|
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser)
|
rs34988750
|
0.00107
|
NM_021939.4(FKBP10):c.1256C>T (p.Ser419Leu)
|
rs146422412
|
0.00107
|
NM_001267550.2(TTN):c.101891G>A (p.Arg33964His)
|
rs55669553
|
0.00106
|
NM_001267550.2(TTN):c.25490G>A (p.Arg8497His)
|
rs149855485
|
0.00106
|
NM_001267550.2(TTN):c.47545C>A (p.Pro15849Thr)
|
rs146181477
|
0.00106
|
NM_138694.4(PKHD1):c.3783C>T (p.Gly1261=)
|
rs138388301
|
0.00105
|
NM_001267550.2(TTN):c.20175A>G (p.Ile6725Met)
|
rs146627500
|
0.00104
|
NM_001267550.2(TTN):c.82560C>A (p.Asn27520Lys)
|
rs56264840
|
0.00104
|
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys)
|
rs138327406
|
0.00103
|
NM_001267550.2(TTN):c.20630T>C (p.Ile6877Thr)
|
rs142794598
|
0.00103
|
NM_001267550.2(TTN):c.90826T>G (p.Cys30276Gly)
|
rs150430592
|
0.00103
|
NM_001267550.2(TTN):c.94283G>A (p.Arg31428His)
|
rs149375775
|
0.00103
|
NM_025137.4(SPG11):c.5121G>T (p.Glu1707Asp)
|
rs145643238
|
0.00103
|
NM_000474.4(TWIST1):c.94G>A (p.Gly32Ser)
|
rs878852992
|
0.00102
|
NM_001267550.2(TTN):c.102595A>G (p.Ile34199Val)
|
rs56347248
|
0.00102
|
NM_001267550.2(TTN):c.82691C>T (p.Ala27564Val)
|
rs55634791
|
0.00102
|
NM_001378454.1(ALMS1):c.11641C>T (p.His3881Tyr)
|
rs142278066
|
0.00102
|
NM_020975.6(RET):c.1157C>T (p.Ala386Val)
|
rs115272158
|
0.00101
|
NM_000383.4(AIRE):c.1322C>T (p.Thr441Met)
|
rs72650677
|
0.00100
|
NM_004525.3(LRP2):c.2603C>G (p.Thr868Ser)
|
rs150752263
|
0.00100
|
NM_030777.4(SLC2A10):c.515C>T (p.Thr172Ile)
|
rs143301610
|
0.00100
|
NM_000040.3(APOC3):c.127G>A (p.Ala43Thr)
|
rs147210663
|
0.00098
|
NM_000264.5(PTCH1):c.2173C>T (p.Pro725Ser)
|
rs149258400
|
0.00098
|
NM_000352.6(ABCC8):c.1630+10C>T
|
rs188075767
|
0.00098
|
NM_001267550.2(TTN):c.4671G>A (p.Met1557Ile)
|
rs139192633
|
0.00097
|
NM_001378454.1(ALMS1):c.11407C>T (p.Pro3803Ser)
|
rs189032342
|
0.00097
|
NM_003476.5(CSRP3):c.299G>A (p.Arg100His)
|
rs138218523
|
0.00097
|
NM_004281.4(BAG3):c.1436C>T (p.Ala479Val)
|
rs34656239
|
0.00097
|
NM_000051.4(ATM):c.6860G>C (p.Gly2287Ala)
|
rs1800061
|
0.00096
|
NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly)
|
rs139139859
|
0.00096
|
NM_031448.6(C19orf12):c.313G>A (p.Val105Met)
|
rs146492790
|
0.00096
|
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr)
|
rs145532615
|
0.00095
|
NM_001267550.2(TTN):c.102271C>T (p.Arg34091Trp)
|
rs140319117
|
0.00095
|
NM_001267550.2(TTN):c.48953T>C (p.Ile16318Thr)
|
rs72677243
|
0.00094
|
NM_022437.3(ABCG8):c.1941C>G (p.Val647=)
|
rs147991100
|
0.00094
|
NM_003664.5(AP3B1):c.942G>A (p.Ala314=)
|
rs146871001
|
0.00093
|
NM_014391.3(ANKRD1):c.197G>A (p.Arg66Gln)
|
rs150797476
|
0.00092
|
NM_022081.6(HPS4):c.1543T>C (p.Cys515Arg)
|
rs148134252
|
0.00092
|
NM_000136.3(FANCC):c.178G>A (p.Val60Ile)
|
rs138629441
|
0.00091
|
NM_001384474.1(LOXHD1):c.5546A>C (p.Asp1849Ala)
|
rs376636291
|
0.00091
|
NM_182914.3(SYNE2):c.16718G>A (p.Arg5573Gln)
|
rs149227847
|
0.00091
|
NM_000350.3(ABCA4):c.1411G>A (p.Glu471Lys)
|
rs1800548
|
0.00090
|
NM_001267550.2(TTN):c.96098G>A (p.Arg32033His)
|
rs200648462
|
0.00090
|
NM_001377.3(DYNC2H1):c.9505A>G (p.Ile3169Val)
|
rs200170585
|
0.00090
|
NM_001267550.2(TTN):c.4396T>C (p.Phe1466Leu)
|
rs151310601
|
0.00089
|
NM_000535.7(PMS2):c.497T>C (p.Leu166Pro)
|
rs116349687
|
0.00088
|
NM_001267550.2(TTN):c.32462C>T (p.Pro10821Leu)
|
rs146400809
|
0.00088
|
NM_001369268.1(ACAN):c.7189G>A (p.Val2397Ile)
|
rs150555123
|
0.00088
|
NM_001854.4(COL11A1):c.965C>T (p.Pro322Leu)
|
rs183130583
|
0.00088
|
NM_000520.6(HEXA):c.1527-6T>C
|
rs199914308
|
0.00087
|
NM_001267550.2(TTN):c.5479G>T (p.Ala1827Ser)
|
rs141213991
|
0.00087
|
NM_000256.3(MYBPC3):c.2870C>G (p.Thr957Ser)
|
rs193922380
|
0.00086
|
NM_000388.4(CASR):c.1631G>A (p.Arg544Gln)
|
rs115230894
|
0.00086
|
NM_000492.4(CFTR):c.4243-20A>G
|
rs138025486
|
0.00086
|
NM_001378778.1(MPDZ):c.4421A>T (p.Asp1474Val)
|
rs201277979
|
0.00086
|
NM_000098.3(CPT2):c.353A>G (p.Asp118Gly)
|
rs148035648
|
0.00085
|
NM_004281.4(BAG3):c.280A>T (p.Ile94Phe)
|
rs145393807
|
0.00085
|
NM_000326.5(RLBP1):c.545T>G (p.Phe182Cys)
|
rs142244640
|
0.00084
|
NM_001079802.2(FKTN):c.681G>A (p.Leu227=)
|
rs142604625
|
0.00084
|
NM_001267550.2(TTN):c.102751A>G (p.Met34251Val)
|
rs56173891
|
0.00084
|
NM_001267550.2(TTN):c.26494A>G (p.Ile8832Val)
|
rs72648989
|
0.00083
|
NM_001267550.2(TTN):c.44077C>T (p.Arg14693Cys)
|
rs200445568
|
0.00083
|
NM_012452.3(TNFRSF13B):c.568G>C (p.Gly190Arg)
|
rs150101848
|
0.00083
|
NM_017780.4(CHD7):c.2436A>T (p.Lys812Asn)
|
rs61978638
|
0.00083
|
NM_018941.4(CLN8):c.374A>G (p.Asn125Ser)
|
rs142269885
|
0.00083
|
NM_032578.4(MYPN):c.3583G>A (p.Val1195Met)
|
rs71534280
|
0.00083
|
NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys)
|
rs119103248
|
0.00083
|
NM_001267550.2(TTN):c.23302G>A (p.Asp7768Asn)
|
rs72648973
|
0.00082
|
NM_152419.3(HGSNAT):c.1880A>G (p.Tyr627Cys)
|
rs192857413
|
0.00082
|
NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys)
|
rs150792276
|
0.00081
|
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg)
|
rs200130356
|
0.00081
|
NM_004329.3(BMPR1A):c.1327C>T (p.Arg443Cys)
|
rs35619497
|
0.00081
|
NM_194248.3(OTOF):c.2908C>T (p.Arg970Cys)
|
rs140613217
|
0.00081
|
NM_000091.5(COL4A3):c.4295G>A (p.Arg1432His)
|
rs200509072
|
0.00080
|
NM_001378454.1(ALMS1):c.4344A>G (p.Leu1448=)
|
rs200459890
|
0.00080
|
NM_000051.4(ATM):c.1073A>G (p.Asn358Ser)
|
rs149636614
|
0.00079
|
NM_001267550.2(TTN):c.65459C>T (p.Thr21820Ile)
|
rs56130023
|
0.00079
|
NM_001267550.2(TTN):c.85248A>T (p.Thr28416=)
|
rs187180708
|
0.00079
|
NM_002474.3(MYH11):c.2005C>T (p.Arg669Cys)
|
rs111404182
|
0.00079
|
NM_005732.4(RAD50):c.1534G>T (p.Ala512Ser)
|
rs147366706
|
0.00079
|
NM_000053.4(ATP7B):c.3405A>G (p.Ala1135=)
|
rs373081328
|
0.00078
|
NM_005732.4(RAD50):c.3036+5G>A
|
rs181016343
|
0.00078
|
NM_153766.3(KCNJ1):c.505C>T (p.Arg169Cys)
|
rs138120505
|
0.00078
|
NM_174936.4(PCSK9):c.1251C>A (p.His417Gln)
|
rs143275858
|
0.00078
|
NM_201596.3(CACNB2):c.641G>C (p.Ser214Thr)
|
rs149253719
|
0.00078
|
NM_000051.4(ATM):c.2096A>G (p.Glu699Gly)
|
rs147934285
|
0.00077
|
NM_001148.6(ANK2):c.11231C>A (p.Thr3744Asn)
|
rs121912705
|
0.00077
|
NM_001267550.2(TTN):c.10088G>A (p.Arg3363His)
|
rs148169214
|
0.00077
|
NM_001927.4(DES):c.170C>T (p.Ser57Leu)
|
rs372825868
|
0.00077
|
NM_006767.4(LZTR1):c.1904C>T (p.Pro635Leu)
|
rs148677674
|
0.00077
|
NM_032122.5(DTNBP1):c.162G>A (p.Arg54=)
|
rs77460377
|
0.00077
|
NM_001365536.1(SCN9A):c.688+9T>C
|
rs188814235
|
0.00076
|
NM_002180.3(IGHMBP2):c.1060+8G>T
|
rs201147313
|
0.00076
|
NM_012452.3(TNFRSF13B):c.605G>A (p.Arg202His)
|
rs104894649
|
0.00076
|
NM_001267550.2(TTN):c.95242C>T (p.Arg31748Cys)
|
rs142525903
|
0.00075
|
NM_002485.5(NBN):c.1354A>C (p.Thr452Pro)
|
rs141137543
|
0.00075
|
NM_004655.4(AXIN2):c.1168A>G (p.Ser390Gly)
|
rs139871607
|
0.00075
|
NM_001267550.2(TTN):c.53055G>A (p.Met17685Ile)
|
rs200387466
|
0.00074
|
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met)
|
rs45517238
|
0.00073
|
NM_001009944.3(PKD1):c.4055G>A (p.Ser1352Asn)
|
rs141274774
|
0.00073
|
NM_001267550.2(TTN):c.21002A>G (p.Lys7001Arg)
|
rs200594798
|
0.00073
|
NM_001267550.2(TTN):c.87412C>A (p.Pro29138Thr)
|
rs72648227
|
0.00073
|
NM_020975.6(RET):c.1124T>A (p.Leu375Gln)
|
rs142338976
|
0.00073
|
NM_000535.7(PMS2):c.2149G>A (p.Val717Met)
|
rs201671325
|
0.00072
|
NM_001130987.2(DYSF):c.4859G>A (p.Arg1620His)
|
rs185596534
|
0.00072
|
NM_006767.4(LZTR1):c.1990G>A (p.Ala664Thr)
|
rs140874089
|
0.00072
|
NM_000038.6(APC):c.1604C>T (p.Ser535Phe)
|
rs75870842
|
0.00071
|
NM_001113378.2(FANCI):c.824T>C (p.Ile275Thr)
|
rs142906652
|
0.00071
|
NM_001267550.2(TTN):c.106580A>T (p.Glu35527Val)
|
rs55725279
|
0.00071
|
NM_001267550.2(TTN):c.19063G>T (p.Asp6355Tyr)
|
rs188878341
|
0.00071
|
NM_001267550.2(TTN):c.72146T>C (p.Leu24049Pro)
|
rs56399205
|
0.00071
|
NM_001378454.1(ALMS1):c.4400G>T (p.Gly1467Val)
|
rs78102263
|
0.00071
|
NM_004006.3(DMD):c.4093C>T (p.Leu1365Phe)
|
rs148781346
|
0.00071
|
NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp)
|
rs61746008
|
0.00070
|
NM_001005242.3(PKP2):c.1379-2067G>A
|
rs138538072
|
0.00070
|
NM_001103.4(ACTN2):c.26A>G (p.Gln9Arg)
|
rs121434525
|
0.00070
|
NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp)
|
rs121917910
|
0.00070
|
NM_001267550.2(TTN):c.47077G>A (p.Val15693Ile)
|
rs201717871
|
0.00070
|
NM_001267550.2(TTN):c.95653G>A (p.Ala31885Thr)
|
rs72648263
|
0.00070
|
NM_020451.3(SELENON):c.1623C>T (p.Asn541=)
|
rs199911454
|
0.00070
|
NM_024422.6(DSC2):c.304G>A (p.Glu102Lys)
|
rs144799937
|
0.00070
|
NM_001035.3(RYR2):c.8162T>C (p.Ile2721Thr)
|
rs201500134
|
0.00069
|
NM_001110556.2(FLNA):c.5251C>T (p.Pro1751Ser)
|
rs56102764
|
0.00069
|
NM_001267550.2(TTN):c.76019T>A (p.Val25340Asp)
|
rs200287703
|
0.00069
|
NM_001267550.2(TTN):c.79226G>A (p.Arg26409His)
|
rs72648206
|
0.00069
|
NM_024334.3(TMEM43):c.424G>A (p.Glu142Lys)
|
rs145619906
|
0.00069
|
NM_000335.5(SCN5A):c.659C>T (p.Thr220Ile)
|
rs45620037
|
0.00068
|
NM_001458.5(FLNC):c.4022G>A (p.Arg1341Gln)
|
rs149641783
|
0.00068
|
NM_001458.5(FLNC):c.6808G>A (p.Glu2270Lys)
|
rs202223616
|
0.00068
|
NM_006231.4(POLE):c.3851G>A (p.Arg1284Gln)
|
rs149462407
|
0.00068
|
NM_022356.4(P3H1):c.2147G>C (p.Gly716Ala)
|
rs573577299
|
0.00068
|
NM_001105206.3(LAMA4):c.2171G>A (p.Arg724Lys)
|
rs146868519
|
0.00067
|
NM_001288705.3(CSF1R):c.881G>A (p.Arg294Gln)
|
rs149168939
|
0.00067
|
NM_000335.5(SCN5A):c.5504T>C (p.Ile1835Thr)
|
rs45563942
|
0.00066
|
NM_000719.7(CACNA1C):c.911T>C (p.Ile304Thr)
|
rs201756421
|
0.00066
|
NM_001267550.2(TTN):c.40498G>T (p.Val13500Phe)
|
rs201944202
|
0.00066
|
NM_001267550.2(TTN):c.89386G>A (p.Val29796Met)
|
rs72648237
|
0.00066
|
NM_001378969.1(KCND3):c.5C>A (p.Ala2Glu)
|
rs201340369
|
0.00066
|
NM_004004.6(GJB2):c.503A>G (p.Lys168Arg)
|
rs200104362
|
0.00066
|
NM_005476.7(GNE):c.1267A>G (p.Ile423Val)
|
rs35638832
|
0.00066
|
NM_024422.6(DSC2):c.172T>G (p.Phe58Val)
|
rs138749562
|
0.00066
|
NM_174936.4(PCSK9):c.709C>T (p.Arg237Trp)
|
rs148195424
|
0.00066
|
NM_000540.3(RYR1):c.2122G>A (p.Asp708Asn)
|
rs138874610
|
0.00065
|
NM_001267550.2(TTN):c.55374C>G (p.Ser18458Arg)
|
rs200550947
|
0.00065
|
NM_006231.4(POLE):c.3046G>A (p.Val1016Met)
|
rs147692158
|
0.00065
|
NM_000631.5(NCF4):c.647C>T (p.Thr216Met)
|
rs146911421
|
0.00064
|
NM_001164508.2(NEB):c.23141G>A (p.Arg7714Gln)
|
rs200963111
|
0.00064
|
NM_001267550.2(TTN):c.50758C>G (p.Pro16920Ala)
|
rs377289817
|
0.00064
|
NM_001267550.2(TTN):c.74596A>G (p.Thr24866Ala)
|
rs199784966
|
0.00064
|
NM_001267550.2(TTN):c.78896T>A (p.Val26299Asp)
|
rs73036377
|
0.00064
|
NM_004655.4(AXIN2):c.2285G>A (p.Ser762Asn)
|
rs117688560
|
0.00064
|
NM_201384.3(PLEC):c.5024G>A (p.Arg1675Gln)
|
rs370569372
|
0.00064
|
NM_201596.3(CACNB2):c.590C>T (p.Ser197Phe)
|
rs150528041
|
0.00064
|
NM_203447.4(DOCK8):c.3023G>A (p.Arg1008Gln)
|
rs145844320
|
0.00064
|
NM_000243.3(MEFV):c.932C>T (p.Ala311Val)
|
rs74346519
|
0.00063
|
NM_000251.3(MSH2):c.55T>C (p.Phe19Leu)
|
rs141711342
|
0.00063
|
NM_001267550.2(TTN):c.54710T>C (p.Leu18237Pro)
|
rs201412693
|
0.00063
|
NM_001267550.2(TTN):c.55659G>A (p.Val18553=)
|
rs368450420
|
0.00063
|
NM_001267550.2(TTN):c.72587G>A (p.Arg24196His)
|
rs200317412
|
0.00063
|
NM_001267550.2(TTN):c.77716G>A (p.Glu25906Lys)
|
rs56341835
|
0.00063
|
NM_001267550.2(TTN):c.91601A>T (p.Asp30534Val)
|
rs182549226
|
0.00063
|
NM_004304.5(ALK):c.932G>A (p.Arg311His)
|
rs150966028
|
0.00063
|
NM_006231.4(POLE):c.4057A>G (p.Ser1353Gly)
|
rs141619382
|
0.00063
|
NM_170707.4(LMNA):c.1912G>A (p.Gly638Arg)
|
rs144851946
|
0.00063
|
NM_172201.2(KCNE2):c.170T>C (p.Ile57Thr)
|
rs74315448
|
0.00063
|
NM_000051.4(ATM):c.320G>A (p.Cys107Tyr)
|
rs142358238
|
0.00062
|
NM_024301.5(FKRP):c.969C>T (p.Arg323=)
|
rs532054402
|
0.00062
|
NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp)
|
rs36210422
|
0.00061
|
NM_000388.4(CASR):c.3091G>A (p.Gly1031Ser)
|
rs142704083
|
0.00061
|
NM_001267550.2(TTN):c.103688T>C (p.Val34563Ala)
|
rs55945684
|
0.00061
|
NM_001267550.2(TTN):c.16313A>G (p.Lys5438Arg)
|
rs190636272
|
0.00061
|
NM_001267550.2(TTN):c.20335A>T (p.Ser6779Cys)
|
rs149470241
|
0.00061
|
NM_001267550.2(TTN):c.3100G>A (p.Val1034Met)
|
rs142951505
|
0.00061
|
NM_001267550.2(TTN):c.81472C>G (p.Pro27158Ala)
|
rs200771189
|
0.00061
|
NM_002615.7(SERPINF1):c.242C>G (p.Ser81Cys)
|
rs140512665
|
0.00061
|
NM_005502.4(ABCA1):c.3544G>A (p.Ala1182Thr)
|
rs143180998
|
0.00061
|
NM_175914.5(HNF4A):c.1321A>G (p.Ile441Val)
|
rs147638455
|
0.00061
|
NM_000257.4(MYH7):c.2769C>T (p.Asn923=)
|
rs36211716
|
0.00060
|
NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln)
|
rs137853242
|
0.00060
|
NM_002691.4(POLD1):c.883G>A (p.Val295Met)
|
rs199545019
|
0.00060
|
NM_004168.4(SDHA):c.133G>A (p.Ala45Thr)
|
rs140736646
|
0.00060
|
NM_024596.5(MCPH1):c.1480G>A (p.Ala494Thr)
|
rs183880522
|
0.00060
|
NM_000321.3(RB1):c.1966C>T (p.Arg656Trp)
|
rs142509759
|
0.00059
|
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln)
|
rs143486492
|
0.00059
|
NM_001267550.2(TTN):c.68824G>A (p.Glu22942Lys)
|
rs199506676
|
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_004004.6(GJB2):c.11G>A (p.Gly4Asp)
|
rs111033222
|
0.00059
|
NM_000039.3(APOA1):c.562G>T (p.Ala188Ser)
|
rs140770089
|
0.00058
|
NM_001042492.3(NF1):c.2033C>T (p.Pro678Leu)
|
rs17881753
|
0.00058
|
NM_001079.4(ZAP70):c.1025T>C (p.Ile342Thr)
|
rs142702703
|
0.00058
|
NM_001267550.2(TTN):c.24952G>A (p.Val8318Ile)
|
rs200103997
|
0.00058
|
NM_001267550.2(TTN):c.25481G>A (p.Arg8494Gln)
|
rs201418615
|
0.00058
|
NM_024675.4(PALB2):c.2851T>C (p.Ser951Pro)
|
rs149522412
|
0.00058
|
NM_001035.3(RYR2):c.3230T>C (p.Val1077Ala)
|
rs202176504
|
0.00057
|
NM_001267550.2(TTN):c.103292C>T (p.Thr34431Met)
|
rs192001910
|
0.00057
|
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser)
|
rs192766485
|
0.00057
|
NM_006904.7(PRKDC):c.11698C>G (p.Leu3900Val)
|
rs201214138
|
0.00057
|
NM_024301.5(FKRP):c.531G>A (p.Glu177=)
|
rs768007208
|
0.00057
|
NM_000051.4(ATM):c.7313C>T (p.Thr2438Ile)
|
rs147604227
|
0.00056
|
NM_000071.3(CBS):c.215A>T (p.Lys72Ile)
|
rs192232907
|
0.00056
|
NM_000492.4(CFTR):c.*2G>A
|
rs150914702
|
0.00056
|
NM_000492.4(CFTR):c.2245C>T (p.Leu749=)
|
rs151235408
|
0.00056
|
NM_001291303.3(FAT4):c.12769G>A (p.Glu4257Lys)
|
rs143513466
|
0.00056
|
NM_206933.4(USH2A):c.12343C>T (p.Arg4115Cys)
|
rs111033275
|
0.00056
|
NM_001267550.2(TTN):c.62432A>G (p.Asp20811Gly)
|
rs72646849
|
0.00055
|
NM_001267550.2(TTN):c.64174C>T (p.Arg21392Cys)
|
rs72646859
|
0.00055
|
NM_174936.4(PCSK9):c.847C>A (p.Leu283Met)
|
rs72646510
|
0.00055
|
NM_001360.3(DHCR7):c.1368C>T (p.Gly456=)
|
rs144562471
|
0.00054
|
NM_001943.5(DSG2):c.44T>A (p.Leu15Gln)
|
rs372174546
|
0.00054
|
NM_005633.4(SOS1):c.749T>C (p.Val250Ala)
|
rs139290271
|
0.00054
|
NM_203447.4(DOCK8):c.3312G>C (p.Glu1104Asp)
|
rs138810908
|
0.00054
|
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys)
|
rs34640941
|
0.00053
|
NM_000064.4(C3):c.3490-10T>G
|
rs372843505
|
0.00053
|
NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn)
|
rs12720457
|
0.00053
|
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg)
|
rs147509697
|
0.00053
|
NM_001267550.2(TTN):c.102657T>A (p.Ser34219Arg)
|
rs370077023
|
0.00053
|
NM_001267550.2(TTN):c.18172C>T (p.Arg6058Cys)
|
rs189127014
|
0.00053
|
NM_024306.5(FA2H):c.337C>T (p.Arg113Trp)
|
rs141276237
|
0.00053
|
NM_000081.4(LYST):c.11086G>A (p.Val3696Ile)
|
rs147221131
|
0.00052
|
NM_000388.4(CASR):c.1192G>A (p.Asp398Asn)
|
rs201177696
|
0.00052
|
NM_001267550.2(TTN):c.54818C>T (p.Pro18273Leu)
|
rs201035511
|
0.00052
|
NM_024422.6(DSC2):c.1901G>A (p.Arg634His)
|
rs200475862
|
0.00052
|
NM_000136.3(FANCC):c.934A>G (p.Ile312Val)
|
rs1800366
|
0.00051
|
NM_000393.5(COL5A2):c.2947C>T (p.Pro983Ser)
|
rs141644853
|
0.00051
|
NM_001009944.3(PKD1):c.9506G>A (p.Arg3169Gln)
|
rs375378535
|
0.00051
|
NM_001035.3(RYR2):c.3320C>T (p.Thr1107Met)
|
rs200236750
|
0.00051
|
NM_001267550.2(TTN):c.24964G>T (p.Val8322Leu)
|
rs201571580
|
0.00051
|
NM_001267550.2(TTN):c.47998G>C (p.Asp16000His)
|
rs201388509
|
0.00051
|
NM_001267550.2(TTN):c.77216C>G (p.Ala25739Gly)
|
rs56391938
|
0.00051
|
NM_001267550.2(TTN):c.87611C>G (p.Thr29204Arg)
|
rs72648228
|
0.00051
|
NM_001267550.2(TTN):c.93005G>T (p.Ser31002Ile)
|
rs180975448
|
0.00051
|
NM_002150.3(HPD):c.1005C>G (p.Ile335Met)
|
rs137852868
|
0.00051
|
NM_003673.4(TCAP):c.313G>C (p.Glu105Gln)
|
rs146906267
|
0.00051
|
NM_006904.7(PRKDC):c.7204C>T (p.Leu2402Phe)
|
rs374403400
|
0.00051
|
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys)
|
rs77130927
|
0.00051
|
NM_016203.4(PRKAG2):c.1318C>T (p.His440Tyr)
|
rs201878539
|
0.00051
|
NM_024675.4(PALB2):c.23C>T (p.Pro8Leu)
|
rs150390726
|
0.00051
|
NM_033118.4(MYLK2):c.1253C>T (p.Thr418Ile)
|
rs144129296
|
0.00051
|
NM_000207.3(INS):c.227G>A (p.Ser76Asn)
|
rs139264769
|
0.00050
|
NM_001148.6(ANK2):c.6228G>T (p.Lys2076Asn)
|
rs144848998
|
0.00050
|
NM_001848.3(COL6A1):c.2876T>C (p.Val959Ala)
|
rs144814689
|
0.00050
|
NM_015311.3(OBSL1):c.4060G>A (p.Val1354Met)
|
rs144083909
|
0.00050
|
NM_002317.7(LOX):c.388T>C (p.Ser130Pro)
|
rs139035462
|
0.00049
|
NM_000059.4(BRCA2):c.9720T>C (p.Val3240=)
|
rs80359810
|
0.00048
|
NM_000179.3(MSH6):c.2667G>T (p.Gln889His)
|
rs149945495
|
0.00048
|
NM_000335.5(SCN5A):c.3875T>C (p.Phe1292Ser)
|
rs41311127
|
0.00048
|
NM_000535.7(PMS2):c.1708A>G (p.Asn570Asp)
|
rs115670442
|
0.00048
|
NM_000719.7(CACNA1C):c.5150C>G (p.Ala1717Gly)
|
rs201492706
|
0.00048
|
NM_001267550.2(TTN):c.95270T>C (p.Ile31757Thr)
|
rs72648259
|
0.00048
|
NM_003480.4(MFAP5):c.236A>T (p.Asn79Ile)
|
rs139330366
|
0.00048
|
NM_170707.4(LMNA):c.789G>A (p.Leu263=)
|
rs148557956
|
0.00048
|
NM_001386795.1(DTNA):c.955A>G (p.Met319Val)
|
rs141981161
|
0.00047
|
NM_002485.5(NBN):c.628G>T (p.Val210Phe)
|
rs61754796
|
0.00047
|
NM_006231.4(POLE):c.5659G>A (p.Val1887Met)
|
rs114119067
|
0.00047
|
NM_020975.6(RET):c.3112A>G (p.Thr1038Ala)
|
rs201740483
|
0.00047
|
NM_000136.3(FANCC):c.705C>T (p.Pro235=)
|
rs141828876
|
0.00046
|
NM_000364.3(TNNT2):c.113C>T (p.Ala38Val)
|
rs200754249
|
0.00046
|
NM_000492.4(CFTR):c.274-6T>C
|
rs371315549
|
0.00046
|
NM_001105206.3(LAMA4):c.5344C>T (p.Arg1782Cys)
|
rs145897390
|
0.00046
|
NM_001267550.2(TTN):c.18550G>A (p.Ala6184Thr)
|
rs72648947
|
0.00046
|
NM_001267550.2(TTN):c.33G>A (p.Pro11=)
|
rs138331646
|
0.00046
|
NM_006767.4(LZTR1):c.1531G>A (p.Val511Met)
|
rs200062851
|
0.00046
|
NM_022436.3(ABCG5):c.99G>A (p.Pro33=)
|
rs149907931
|
0.00046
|
NM_000518.5(HBB):c.316-125A>G
|
rs63751175
|
0.00045
|
NM_000535.7(PMS2):c.1199A>C (p.Gln400Pro)
|
rs148069478
|
0.00045
|
NM_001048174.2(MUTYH):c.914-9C>T
|
rs3219488
|
0.00045
|
NM_001267550.2(TTN):c.104592G>A (p.Pro34864=)
|
rs144094650
|
0.00045
|
NM_001267550.2(TTN):c.41488G>A (p.Val13830Ile)
|
rs149059189
|
0.00045
|
NM_001267550.2(TTN):c.80722A>C (p.Arg26908=)
|
rs573877174
|
0.00045
|
NM_004100.5(EYA4):c.1035G>C (p.Arg345Ser)
|
rs140170914
|
0.00045
|
NM_006506.5(RASA2):c.378A>C (p.Glu126Asp)
|
rs144759014
|
0.00045
|
NM_201596.3(CACNB2):c.1776C>A (p.Asp592Glu)
|
rs144182966
|
0.00045
|
NM_000039.3(APOA1):c.284T>A (p.Phe95Tyr)
|
rs138407155
|
0.00044
|
NM_000257.4(MYH7):c.3960G>A (p.Glu1320=)
|
rs147797612
|
0.00044
|
NM_000338.3(SLC12A1):c.1089A>G (p.Ala363=)
|
rs142646329
|
0.00044
|
NM_000552.5(VWF):c.4146G>T (p.Leu1382=)
|
rs140464171
|
0.00044
|
NM_002180.3(IGHMBP2):c.165G>C (p.Gln55His)
|
rs201692151
|
0.00044
|
NM_002473.6(MYH9):c.3340T>C (p.Ser1114Pro)
|
rs200901330
|
0.00044
|
NM_004004.6(GJB2):c.-22-6T>C
|
rs141962118
|
0.00044
|
NM_017617.5(NOTCH1):c.1553C>T (p.Thr518Met)
|
rs377535397
|
0.00044
|
NM_033118.4(MYLK2):c.834T>A (p.Asn278Lys)
|
rs41293104
|
0.00044
|
NM_000057.4(BLM):c.3798T>G (p.Val1266=)
|
rs138831180
|
0.00043
|
NM_000169.3(GLA):c.376A>G (p.Ser126Gly)
|
rs149391489
|
0.00043
|
NM_001267550.2(TTN):c.41521G>A (p.Asp13841Asn)
|
rs201257644
|
0.00043
|
NM_004415.4(DSP):c.2683T>C (p.Tyr895His)
|
rs375891215
|
0.00043
|
NM_006506.5(RASA2):c.37T>G (p.Ser13Ala)
|
rs747843653
|
0.00043
|
NM_001267550.2(TTN):c.49413G>T (p.Trp16471Cys)
|
rs202094100
|
0.00042
|
NM_001267550.2(TTN):c.57442A>G (p.Met19148Val)
|
rs188185141
|
0.00042
|
NM_001267550.2(TTN):c.83516G>A (p.Arg27839Gln)
|
rs376820301
|
0.00042
|
NM_001378454.1(ALMS1):c.4222G>A (p.Val1408Ile)
|
rs200529564
|
0.00042
|
NM_005732.4(RAD50):c.260G>A (p.Arg87His)
|
rs374561375
|
0.00042
|
NM_144670.6(A2ML1):c.911T>C (p.Ile304Thr)
|
rs184575465
|
0.00042
|
NR_003051.4(RMRP):n.141A>G
|
rs578091934
|
0.00042
|
NM_000088.4(COL1A1):c.1882G>A (p.Ala628Thr)
|
rs113950465
|
0.00041
|
NM_000393.5(COL5A2):c.4450G>A (p.Gly1484Ser)
|
rs147420365
|
0.00041
|
NM_000492.4(CFTR):c.3469-17T>C
|
rs199630678
|
0.00041
|
NM_000535.7(PMS2):c.936G>A (p.Met312Ile)
|
rs139194813
|
0.00041
|
NM_001267550.2(TTN):c.52022G>A (p.Arg17341Gln)
|
rs370390570
|
0.00041
|
NM_001267550.2(TTN):c.99901G>A (p.Glu33301Lys)
|
rs72648278
|
0.00041
|
NM_001378454.1(ALMS1):c.12438G>T (p.Arg4146=)
|
rs35902379
|
0.00041
|
NM_006231.4(POLE):c.1015G>A (p.Asp339Asn)
|
rs149029910
|
0.00041
|
NM_014704.4(CEP104):c.2621G>A (p.Arg874His)
|
rs139076247
|
0.00041
|
NM_032043.3(BRIP1):c.2220G>T (p.Gln740His)
|
rs45589637
|
0.00041
|
NM_053025.4(MYLK):c.1991A>G (p.Gln664Arg)
|
rs200273207
|
0.00041
|
NM_000335.5(SCN5A):c.5708C>T (p.Ser1903Leu)
|
rs150264233
|
0.00040
|
NM_000026.4(ADSL):c.270T>C (p.Ala90=)
|
rs143275316
|
0.00039
|
NM_000256.3(MYBPC3):c.1544A>G (p.Asn515Ser)
|
rs181834806
|
0.00039
|
NM_000551.4(VHL):c.241C>T (p.Pro81Ser)
|
rs104893829
|
0.00039
|
NM_001105206.3(LAMA4):c.863C>G (p.Ala288Gly)
|
rs150084275
|
0.00039
|
NM_001232.4(CASQ2):c.928G>A (p.Asp310Asn)
|
rs141314684
|
0.00039
|
NM_001267550.2(TTN):c.17224C>T (p.Leu5742Phe)
|
rs72648943
|
0.00039
|
NM_001297.5(CNGB1):c.2153G>C (p.Gly718Ala)
|
rs201909863
|
0.00039
|
NM_020975.6(RET):c.1946C>T (p.Ser649Leu)
|
rs148935214
|
0.00039
|
NM_000038.6(APC):c.5690A>C (p.His1897Pro)
|
rs112610898
|
0.00038
|
NM_000152.5(GAA):c.257C>G (p.Pro86Arg)
|
rs2229222
|
0.00038
|
NM_000492.4(CFTR):c.2620-6T>C
|
rs371315682
|
0.00038
|
NM_001035.3(RYR2):c.12919C>T (p.Arg4307Cys)
|
rs200092869
|
0.00038
|
NM_001165963.4(SCN1A):c.5568G>A (p.Met1856Ile)
|
rs144691638
|
0.00038
|
NM_001943.5(DSG2):c.1781T>C (p.Leu594Pro)
|
rs199681901
|
0.00038
|
NM_002474.3(MYH11):c.5273G>A (p.Arg1758Gln)
|
rs142546324
|
0.00038
|
NM_003235.5(TG):c.8026C>T (p.Arg2676Trp)
|
rs114613744
|
0.00038
|
NM_004132.5(HABP2):c.207C>T (p.Tyr69=)
|
rs139478887
|
0.00038
|
NM_004281.4(BAG3):c.821C>T (p.Ser274Leu)
|
rs143919208
|
0.00038
|
NM_020433.5(JPH2):c.1204G>A (p.Glu402Lys)
|
rs147407445
|
0.00038
|
NM_138694.4(PKHD1):c.9402G>A (p.Lys3134=)
|
rs143737660
|
0.00038
|
NM_000179.3(MSH6):c.1932G>C (p.Arg644Ser)
|
rs34938432
|
0.00037
|
NM_001018115.3(FANCD2):c.2273G>C (p.Cys758Ser)
|
rs540805431
|
0.00037
|
NM_001267550.2(TTN):c.16546G>T (p.Asp5516Tyr)
|
rs72648940
|
0.00037
|
NM_001267550.2(TTN):c.76987G>A (p.Asp25663Asn)
|
rs143186270
|
0.00037
|
NM_001378454.1(ALMS1):c.3375A>G (p.Val1125=)
|
rs189914793
|
0.00037
|
NM_001943.5(DSG2):c.716T>C (p.Val239Ala)
|
rs200997703
|
0.00037
|
NM_002878.4(RAD51D):c.26G>C (p.Cys9Ser)
|
rs140825795
|
0.00037
|
NM_000256.3(MYBPC3):c.1286C>T (p.Ala429Val)
|
rs370412052
|
0.00036
|
NM_000256.3(MYBPC3):c.3535G>A (p.Glu1179Lys)
|
rs199669878
|
0.00036
|
NM_000256.3(MYBPC3):c.906-7G>T
|
rs397516079
|
0.00036
|
NM_000719.7(CACNA1C):c.1468G>A (p.Gly490Arg)
|
rs121912775
|
0.00036
|
NM_001126049.2(KLLN):c.-840G>A
|
rs563841270
|
0.00036
|
NM_001267550.2(TTN):c.75361A>G (p.Ile25121Val)
|
rs199508062
|
0.00036
|
NM_001267550.2(TTN):c.79410G>A (p.Gly26470=)
|
rs140942979
|
0.00036
|
NM_002474.3(MYH11):c.5499G>C (p.Glu1833Asp)
|
rs145252402
|
0.00036
|
NM_002734.5(PRKAR1A):c.221G>A (p.Arg74His)
|
rs200069356
|
0.00036
|
NM_004006.3(DMD):c.1934A>G (p.Asp645Gly)
|
rs147822019
|
0.00036
|
NM_004006.3(DMD):c.6320G>A (p.Arg2107Gln)
|
rs142807436
|
0.00036
|
NM_005188.4(CBL):c.2363G>A (p.Arg788Gln)
|
rs150811339
|
0.00036
|
NM_005732.4(RAD50):c.2397G>C (p.Gln799His)
|
rs61749630
|
0.00036
|
NM_007078.3(LDB3):c.664G>A (p.Ala222Thr)
|
rs139922045
|
0.00036
|
NM_020975.6(RET):c.200G>A (p.Arg67His)
|
rs192489011
|
0.00036
|
NM_022437.3(ABCG8):c.1473A>G (p.Pro491=)
|
rs146046068
|
0.00036
|
NM_000548.5(TSC2):c.1512C>G (p.Val504=)
|
rs146359990
|
0.00035
|
NM_001048174.2(MUTYH):c.850-2A>G
|
rs77542170
|
0.00035
|
NM_001267550.2(TTN):c.88090G>A (p.Gly29364Ser)
|
rs183013408
|
0.00035
|
NM_001365276.2(TNXB):c.619G>A (p.Gly207Ser)
|
rs139154852
|
0.00035
|
NM_005188.4(CBL):c.1942A>C (p.Ser648Arg)
|
rs143264567
|
0.00035
|
NM_005751.5(AKAP9):c.3580G>A (p.Ala1194Thr)
|
rs139965373
|
0.00035
|
NM_022437.3(ABCG8):c.729C>T (p.Leu243=)
|
rs145482605
|
0.00035
|
NM_024334.3(TMEM43):c.484G>A (p.Asp162Asn)
|
rs150425166
|
0.00035
|
NM_024422.6(DSC2):c.1775C>T (p.Ala592Val)
|
rs140232809
|
0.00035
|
NM_000070.3(CAPN3):c.1543G>A (p.Gly515Arg)
|
rs150226817
|
0.00034
|
NM_000093.5(COL5A1):c.598G>A (p.Asp200Asn)
|
rs142890619
|
0.00034
|
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala)
|
rs201273753
|
0.00034
|
NM_000335.5(SCN5A):c.2944T>C (p.Cys982Arg)
|
rs199473182
|
0.00034
|
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met)
|
rs1800103
|
0.00034
|
NM_001267550.2(TTN):c.52536C>G (p.Asn17512Lys)
|
rs199615557
|
0.00034
|
NM_001378789.1(CERS3):c.1102G>A (p.Gly368Ser)
|
rs137899535
|
0.00034
|
NM_001386795.1(DTNA):c.2039G>A (p.Arg680Gln)
|
rs138143719
|
0.00034
|
NM_002474.3(MYH11):c.472G>A (p.Ala158Thr)
|
rs375998236
|
0.00034
|
NM_004092.4(ECHS1):c.519G>A (p.Ala173=)
|
rs140262395
|
0.00034
|
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr)
|
rs200050883
|
0.00034
|
NM_015141.4(GPD1L):c.520G>A (p.Glu174Lys)
|
rs112122950
|
0.00034
|
NM_032043.3(BRIP1):c.1735C>T (p.Arg579Cys)
|
rs28997571
|
0.00034
|
NM_032578.4(MYPN):c.3124C>T (p.Arg1042Cys)
|
rs151282801
|
0.00034
|
NM_000179.3(MSH6):c.1867C>G (p.Pro623Ala)
|
rs3136334
|
0.00033
|
NM_001267550.2(TTN):c.15986G>A (p.Gly5329Asp)
|
rs202234492
|
0.00033
|
NM_001267550.2(TTN):c.31837C>G (p.Pro10613Ala)
|
rs200213832
|
0.00033
|
NM_002474.3(MYH11):c.5275G>A (p.Val1759Ile)
|
rs138059405
|
0.00033
|
NM_002485.5(NBN):c.425A>G (p.Asn142Ser)
|
rs769414
|
0.00033
|
NM_000051.4(ATM):c.2494C>T (p.Arg832Cys)
|
rs2229022
|
0.00032
|
NM_000057.4(BLM):c.3041A>G (p.His1014Arg)
|
rs145022945
|
0.00032
|
NM_000089.4(COL1A2):c.2425C>T (p.Pro809Ser)
|
rs145355907
|
0.00032
|
NM_000257.4(MYH7):c.4188G>A (p.Arg1396=)
|
rs200852418
|
0.00032
|
NM_001267550.2(TTN):c.156C>T (p.Pro52=)
|
rs72647842
|
0.00032
|
NM_001267550.2(TTN):c.26528C>T (p.Thr8843Met)
|
rs72648990
|
0.00032
|
NM_001267550.2(TTN):c.62943T>C (p.Thr20981=)
|
rs184863287
|
0.00032
|
NM_001378454.1(ALMS1):c.10238A>G (p.Glu3413Gly)
|
rs184779459
|
0.00032
|
NM_004006.3(DMD):c.5010G>T (p.Trp1670Cys)
|
rs727503828
|
0.00032
|
NM_005502.4(ABCA1):c.5039G>A (p.Arg1680Gln)
|
rs150125857
|
0.00032
|
NM_020297.4(ABCC9):c.1887G>T (p.Glu629Asp)
|
rs150036969
|
0.00032
|
NM_053025.4(MYLK):c.5302A>G (p.Ser1768Gly)
|
rs149866482
|
0.00032
|
NM_000051.4(ATM):c.7740A>C (p.Arg2580Ser)
|
rs199915459
|
0.00031
|
NM_000069.3(CACNA1S):c.2957G>A (p.Arg986His)
|
rs140453525
|
0.00031
|
NM_000251.3(MSH2):c.435T>G (p.Ile145Met)
|
rs63750124
|
0.00031
|
NM_000520.6(HEXA):c.8G>C (p.Ser3Thr)
|
rs374524755
|
0.00031
|
NM_001267550.2(TTN):c.43690T>A (p.Ser14564Thr)
|
rs181189778
|
0.00031
|
NM_001267550.2(TTN):c.70491C>T (p.Thr23497=)
|
rs372382315
|
0.00031
|
NM_001267550.2(TTN):c.78855T>C (p.Asp26285=)
|
rs139953862
|
0.00031
|
NM_001267550.2(TTN):c.84640A>G (p.Met28214Val)
|
rs72648221
|
0.00031
|
NM_001267550.2(TTN):c.86526T>G (p.Val28842=)
|
rs72648226
|
0.00031
|
NM_002474.3(MYH11):c.2893G>T (p.Ala965Ser)
|
rs113696032
|
0.00031
|
NM_014476.6(PDLIM3):c.169A>G (p.Thr57Ala)
|
rs142951316
|
0.00031
|
NM_174934.4(SCN4B):c.607G>A (p.Val203Met)
|
rs150312046
|
0.00031
|
NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile)
|
rs183306990
|
0.00030
|
NM_000400.4(ERCC2):c.1381C>G (p.Leu461Val)
|
rs121913016
|
0.00030
|
NM_001267550.2(TTN):c.32071G>A (p.Ala10691Thr)
|
rs371452173
|
0.00030
|
NM_001267550.2(TTN):c.70906C>T (p.Arg23636Cys)
|
rs189208539
|
0.00030
|
NM_001267550.2(TTN):c.72001G>A (p.Ala24001Thr)
|
rs180828370
|
0.00030
|
NM_001267550.2(TTN):c.80263T>C (p.Phe26755Leu)
|
rs200181804
|
0.00030
|
NM_001267550.2(TTN):c.97099C>T (p.Arg32367Cys)
|
rs202064385
|
0.00030
|
NM_002471.4(MYH6):c.292G>A (p.Glu98Lys)
|
rs140596256
|
0.00030
|
NM_014391.3(ANKRD1):c.368C>T (p.Thr123Met)
|
rs145387010
|
0.00030
|
NM_000051.4(ATM):c.4324T>C (p.Tyr1442His)
|
rs201666889
|
0.00029
|
NM_000075.4(CDK4):c.625C>T (p.Arg209Cys)
|
rs140644696
|
0.00029
|
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg)
|
rs143335584
|
0.00029
|
NM_000321.3(RB1):c.929G>A (p.Gly310Glu)
|
rs200844292
|
0.00029
|
NM_000368.5(TSC1):c.346T>G (p.Leu116Val)
|
rs199620268
|
0.00029
|
NM_000492.4(CFTR):c.3558A>G (p.Gln1186=)
|
rs1800121
|
0.00029
|
NM_000518.5(HBB):c.324C>T (p.Gly108=)
|
rs193922562
|
0.00029
|
NM_000527.5(LDLR):c.507C>T (p.Asn169=)
|
rs146354103
|
0.00029
|
NM_000535.7(PMS2):c.572A>G (p.Tyr191Cys)
|
rs375289386
|
0.00029
|
NM_000548.5(TSC2):c.5116C>T (p.Arg1706Cys)
|
rs45517391
|
0.00029
|
NM_001035.3(RYR2):c.649A>G (p.Ile217Val)
|
rs200642525
|
0.00029
|
NM_001040151.2(SCN3B):c.328G>A (p.Val110Ile)
|
rs147205617
|
0.00029
|
NM_001042492.3(NF1):c.5906A>T (p.Gln1969Leu)
|
rs143502927
|
0.00029
|
NM_001267550.2(TTN):c.2686G>A (p.Val896Ile)
|
rs376768790
|
0.00029
|
NM_001267550.2(TTN):c.30485C>T (p.Thr10162Met)
|
rs200593368
|
0.00029
|
NM_001267550.2(TTN):c.62317C>A (p.Leu20773Met)
|
rs375173874
|
0.00029
|
NM_001267550.2(TTN):c.74602A>G (p.Ile24868Val)
|
rs72646898
|
0.00029
|
NM_001267550.2(TTN):c.79085T>C (p.Met26362Thr)
|
rs529839486
|
0.00029
|
NM_001267550.2(TTN):c.835C>T (p.Arg279Trp)
|
rs138060032
|
0.00029
|
NM_002471.4(MYH6):c.5410C>A (p.Gln1804Lys)
|
rs144571463
|
0.00029
|
NM_002471.4(MYH6):c.831G>T (p.Gln277His)
|
rs140660481
|
0.00029
|
NM_005502.4(ABCA1):c.1486C>T (p.Arg496Trp)
|
rs147675550
|
0.00029
|
NM_006514.4(SCN10A):c.3482T>C (p.Met1161Thr)
|
rs200713724
|
0.00029
|
NM_020297.4(ABCC9):c.305T>C (p.Leu102Pro)
|
rs374659816
|
0.00029
|
NM_139076.3(ABRAXAS1):c.1056T>G (p.Asp352Glu)
|
rs773812911
|
0.00029
|
NM_000038.6(APC):c.2593C>T (p.Pro865Ser)
|
rs192620988
|
0.00028
|
NM_000492.4(CFTR):c.1584+12T>C
|
rs193922502
|
0.00028
|
NM_001267550.2(TTN):c.4359A>T (p.Arg1453Ser)
|
rs376857956
|
0.00028
|
NM_001267550.2(TTN):c.53226T>C (p.Tyr17742=)
|
rs202200861
|
0.00028
|
NM_001267550.2(TTN):c.62572A>G (p.Thr20858Ala)
|
rs200689750
|
0.00028
|
NM_001267550.2(TTN):c.65729T>C (p.Ile21910Thr)
|
rs146941600
|
0.00028
|
NM_002474.3(MYH11):c.2075C>T (p.Ala692Val)
|
rs148893135
|
0.00028
|
NM_139076.3(ABRAXAS1):c.125A>G (p.Lys42Arg)
|
rs201948472
|
0.00028
|
NM_000023.4(SGCA):c.662G>A (p.Arg221His)
|
rs138254713
|
0.00027
|
NM_001267550.2(TTN):c.102696C>T (p.Val34232=)
|
rs202180775
|
0.00027
|
NM_001267550.2(TTN):c.20792A>G (p.Asn6931Ser)
|
rs200866883
|
0.00027
|
NM_001267550.2(TTN):c.41330-7T>A
|
rs373636988
|
0.00027
|
NM_001267550.2(TTN):c.57646A>G (p.Ile19216Val)
|
rs374058726
|
0.00027
|
NM_001267550.2(TTN):c.66430G>A (p.Ala22144Thr)
|
rs183276016
|
0.00027
|
NM_001360.3(DHCR7):c.139C>T (p.Leu47=)
|
rs140721259
|
0.00027
|
NM_002471.4(MYH6):c.3199A>G (p.Ser1067Gly)
|
rs145508517
|
0.00027
|
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser)
|
rs104895032
|
0.00027
|
NM_007194.4(CHEK2):c.663C>G (p.Ile221Met)
|
rs200451612
|
0.00027
|
NM_032043.3(BRIP1):c.3559G>A (p.Ala1187Thr)
|
rs367610893
|
0.00027
|
NM_000038.6(APC):c.8266A>G (p.Ile2756Val)
|
rs146115809
|
0.00026
|
NM_000051.4(ATM):c.1595G>A (p.Cys532Tyr)
|
rs35963548
|
0.00026
|
NM_000051.4(ATM):c.4362A>C (p.Lys1454Asn)
|
rs148993589
|
0.00026
|
NM_000077.5(CDKN2A):c.318G>A (p.Val106=)
|
rs199888003
|
0.00026
|
NM_000238.4(KCNH2):c.2371C>T (p.Arg791Trp)
|
rs138498207
|
0.00026
|
NM_000451.4(SHOX):c.86A>C (p.Lys29Thr)
|
rs146304983
|
0.00026
|
NM_000492.4(CFTR):c.374T>C (p.Ile125Thr)
|
rs141723617
|
0.00026
|
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser)
|
rs200513014
|
0.00026
|
NM_000548.5(TSC2):c.4105C>T (p.Arg1369Trp)
|
rs45517328
|
0.00026
|
NM_000719.7(CACNA1C):c.5885G>A (p.Arg1962Gln)
|
rs199776761
|
0.00026
|
NM_001103.4(ACTN2):c.2161C>A (p.Arg721Ser)
|
rs149433837
|
0.00026
|
NM_001267550.2(TTN):c.14535C>T (p.Asp4845=)
|
rs184307461
|
0.00026
|
NM_001267550.2(TTN):c.25809G>A (p.Ser8603=)
|
rs369099681
|
0.00026
|
NM_001267550.2(TTN):c.47513G>A (p.Arg15838Gln)
|
rs199640194
|
0.00026
|
NM_001267550.2(TTN):c.69864A>G (p.Ile23288Met)
|
rs368867993
|
0.00026
|
NM_001267550.2(TTN):c.97257T>C (p.Ile32419=)
|
rs373206096
|
0.00026
|
NM_005633.4(SOS1):c.698A>G (p.Asn233Ser)
|
rs144934321
|
0.00026
|
NM_005732.4(RAD50):c.1094G>A (p.Arg365Gln)
|
rs146370443
|
0.00026
|
NM_005732.4(RAD50):c.2288G>A (p.Arg763His)
|
rs141989813
|
0.00026
|
NM_007078.3(LDB3):c.1051A>G (p.Thr351Ala)
|
rs138251566
|
0.00026
|
NM_022114.4(PRDM16):c.1882G>A (p.Asp628Asn)
|
rs199895459
|
0.00026
|
NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp)
|
rs150624408
|
0.00026
|
NM_033343.4(LHX4):c.37G>A (p.Val13Ile)
|
rs146664099
|
0.00026
|
NM_144670.6(A2ML1):c.2395T>G (p.Ser799Ala)
|
rs374408168
|
0.00026
|
NM_145261.4(DNAJC19):c.331G>C (p.Glu111Gln)
|
rs370042988
|
0.00026
|
NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr)
|
rs150757822
|
0.00025
|
NM_000492.4(CFTR):c.4197C>G (p.Leu1399=)
|
rs79688066
|
0.00025
|
NM_001134363.3(RBM20):c.850G>A (p.Gly284Arg)
|
rs201148126
|
0.00025
|
NM_001267550.2(TTN):c.26672A>G (p.Asn8891Ser)
|
rs146057575
|
0.00025
|
NM_002474.3(MYH11):c.5393G>A (p.Arg1798Gln)
|
rs148938946
|
0.00025
|
NM_002878.4(RAD51D):c.413A>G (p.Asn138Ser)
|
rs201676898
|
0.00025
|
NM_004329.3(BMPR1A):c.1433G>A (p.Arg478His)
|
rs113849804
|
0.00025
|
NM_005732.4(RAD50):c.2177G>A (p.Arg726His)
|
rs28903092
|
0.00025
|
NM_005732.4(RAD50):c.3455G>A (p.Arg1152Gln)
|
rs144253015
|
0.00025
|
NM_006767.4(LZTR1):c.1939A>G (p.Ile647Val)
|
rs148916790
|
0.00025
|
NM_014000.3(VCL):c.1294C>G (p.Leu432Val)
|
rs144146254
|
0.00025
|
NM_016203.4(PRKAG2):c.325T>G (p.Ser109Ala)
|
rs139579816
|
0.00025
|
NM_058216.3(RAD51C):c.922G>T (p.Ala308Ser)
|
rs185057307
|
0.00025
|
NM_000465.4(BARD1):c.668A>G (p.Glu223Gly)
|
rs145009419
|
0.00024
|
NM_000466.3(PEX1):c.2868T>A (p.Val956=)
|
rs200663477
|
0.00024
|
NM_001035.3(RYR2):c.892C>T (p.Arg298Cys)
|
rs551099887
|
0.00024
|
NM_001134363.3(RBM20):c.2452G>T (p.Ala818Ser)
|
rs200271618
|
0.00024
|
NM_001267550.2(TTN):c.33732G>A (p.Pro11244=)
|
rs190604150
|
0.00024
|
NM_001267550.2(TTN):c.59113C>T (p.Arg19705Cys)
|
rs72646839
|
0.00024
|
NM_001267550.2(TTN):c.68082C>T (p.Cys22694=)
|
rs79406408
|
0.00024
|
NM_005732.4(RAD50):c.1336A>G (p.Lys446Glu)
|
rs149217423
|
0.00024
|
NM_006767.4(LZTR1):c.1333G>A (p.Val445Met)
|
rs201070853
|
0.00024
|
NM_024334.3(TMEM43):c.1111T>C (p.Tyr371His)
|
rs116911972
|
0.00024
|
NM_024334.3(TMEM43):c.564C>T (p.Gly188=)
|
rs143124744
|
0.00024
|
NM_024422.6(DSC2):c.857G>T (p.Gly286Val)
|
rs199682735
|
0.00024
|
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala)
|
rs28903098
|
0.00024
|
NM_000179.3(MSH6):c.73G>T (p.Ala25Ser)
|
rs267608026
|
0.00023
|
NM_000238.4(KCNH2):c.2729C>T (p.Pro910Leu)
|
rs199473436
|
0.00023
|
NM_001267550.2(TTN):c.106675G>C (p.Glu35559Gln)
|
rs199632397
|
0.00023
|
NM_005591.4(MRE11):c.1286T>C (p.Val429Ala)
|
rs141293060
|
0.00023
|
NM_020975.6(RET):c.874G>A (p.Val292Met)
|
rs34682185
|
0.00023
|
NM_053025.4(MYLK):c.4184T>C (p.Leu1395Pro)
|
rs146576868
|
0.00023
|
NM_000251.3(MSH2):c.1787A>G (p.Asn596Ser)
|
rs41295288
|
0.00022
|
NM_000518.5(HBB):c.246C>A (p.Leu82=)
|
rs145669504
|
0.00022
|
NM_000518.5(HBB):c.294C>T (p.His98=)
|
rs34515413
|
0.00022
|
NM_001267550.2(TTN):c.87448A>T (p.Ile29150Leu)
|
rs189030321
|
0.00022
|
NM_001267550.2(TTN):c.96015C>T (p.Pro32005=)
|
rs183620684
|
0.00022
|
NM_001378454.1(ALMS1):c.3689G>A (p.Gly1230Glu)
|
rs372619046
|
0.00022
|
NM_002230.4(JUP):c.2207C>T (p.Pro736Leu)
|
rs151178348
|
0.00022
|
NM_004612.4(TGFBR1):c.415A>G (p.Ile139Val)
|
rs148176750
|
0.00022
|
NM_024426.6(WT1):c.760C>T (p.Pro254Ser)
|
rs2234584
|
0.00022
|
NM_053025.4(MYLK):c.5477C>T (p.Ala1826Val)
|
rs147187907
|
0.00022
|
NM_000138.5(FBN1):c.1027G>A (p.Gly343Arg)
|
rs146726731
|
0.00021
|
NM_000465.4(BARD1):c.1347A>G (p.Gln449=)
|
rs373257776
|
0.00021
|
NM_000465.4(BARD1):c.842C>T (p.Pro281Leu)
|
rs367890377
|
0.00021
|
NM_000535.7(PMS2):c.1567T>A (p.Ser523Thr)
|
rs63751132
|
0.00021
|
NM_001035.3(RYR2):c.2389G>A (p.Gly797Arg)
|
rs200121281
|
0.00021
|
NM_001103.4(ACTN2):c.1106C>T (p.Ser369Leu)
|
rs747400815
|
0.00021
|
NM_001267550.2(TTN):c.17116G>A (p.Glu5706Lys)
|
rs376593556
|
0.00021
|
NM_001267550.2(TTN):c.28644G>A (p.Thr9548=)
|
rs376744914
|
0.00021
|
NM_001267550.2(TTN):c.39301G>A (p.Glu13101Lys)
|
rs201035457
|
0.00021
|
NM_001267550.2(TTN):c.93803A>C (p.Lys31268Thr)
|
rs200766837
|
0.00021
|
NM_001267550.2(TTN):c.98826C>G (p.Asp32942Glu)
|
rs190967471
|
0.00021
|
NM_001378454.1(ALMS1):c.759T>A (p.Pro253=)
|
rs201478438
|
0.00021
|
NM_002230.4(JUP):c.1507G>A (p.Gly503Ser)
|
rs376051686
|
0.00021
|
NM_002578.5(PAK3):c.1579A>G (p.Ser527Gly)
|
rs200474454
|
0.00021
|
NM_003242.6(TGFBR2):c.4G>T (p.Gly2Cys)
|
rs565502802
|
0.00021
|
NM_004100.5(EYA4):c.987G>T (p.Met329Ile)
|
rs146144708
|
0.00021
|
NM_006767.4(LZTR1):c.1412G>A (p.Arg471His)
|
rs139031749
|
0.00021
|
NM_024675.4(PALB2):c.298C>T (p.Leu100Phe)
|
rs61756147
|
0.00021
|
NM_024675.4(PALB2):c.656A>G (p.Asp219Gly)
|
rs45594034
|
0.00021
|
NM_144670.6(A2ML1):c.2404C>T (p.Arg802Cys)
|
rs367937691
|
0.00021
|
NM_000059.4(BRCA2):c.6803G>A (p.Arg2268Lys)
|
rs80358906
|
0.00020
|
NM_000540.3(RYR1):c.2822C>T (p.Ala941Val)
|
rs748568687
|
0.00020
|
NM_001267550.2(TTN):c.63352C>T (p.Arg21118Trp)
|
rs200726948
|
0.00020
|
NM_003098.3(SNTA1):c.566C>T (p.Ser189Leu)
|
rs144860423
|
0.00020
|
NM_004415.4(DSP):c.8467C>G (p.Pro2823Ala)
|
rs142717240
|
0.00020
|
NM_004612.4(TGFBR1):c.49C>T (p.Leu17=)
|
rs878854714
|
0.00020
|
NM_005732.4(RAD50):c.2525T>C (p.Val842Ala)
|
rs28903093
|
0.00020
|
NM_006393.3(NEBL):c.2417C>T (p.Thr806Ile)
|
rs200705273
|
0.00020
|
NM_007294.4(BRCA1):c.1459G>T (p.Val487Phe)
|
rs369588942
|
0.00020
|
NM_000051.4(ATM):c.295A>G (p.Ser99Gly)
|
rs137882485
|
0.00019
|
NM_000051.4(ATM):c.4060C>A (p.Pro1354Thr)
|
rs145119475
|
0.00019
|
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu)
|
rs147187700
|
0.00019
|
NM_000059.4(BRCA2):c.9770A>G (p.Lys3257Arg)
|
rs55847618
|
0.00019
|
NM_000088.4(COL1A1):c.2932C>T (p.Pro978Ser)
|
rs193922153
|
0.00019
|
NM_000093.5(COL5A1):c.3983C>G (p.Pro1328Arg)
|
rs140797509
|
0.00019
|
NM_000179.3(MSH6):c.3961A>G (p.Arg1321Gly)
|
rs41295278
|
0.00019
|
NM_000251.3(MSH2):c.138C>G (p.His46Gln)
|
rs33946261
|
0.00019
|
NM_000337.6(SGCD):c.848A>G (p.Gln283Arg)
|
rs397516338
|
0.00019
|
NM_000368.5(TSC1):c.1460C>G (p.Ser487Cys)
|
rs118203532
|
0.00019
|
NM_000535.7(PMS2):c.1243G>A (p.Val415Met)
|
rs138387687
|
0.00019
|
NM_000548.5(TSC2):c.2295C>T (p.Ala765=)
|
rs45509500
|
0.00019
|
NM_001165963.4(SCN1A):c.3899C>T (p.Thr1300Ile)
|
rs146878122
|
0.00019
|
NM_001267550.2(TTN):c.55379C>T (p.Thr18460Ile)
|
rs372778818
|
0.00019
|
NM_001267550.2(TTN):c.7957T>C (p.Leu2653=)
|
rs201837864
|
0.00019
|
NM_001267550.2(TTN):c.8069C>T (p.Thr2690Ile)
|
rs374620001
|
0.00019
|
NM_001267550.2(TTN):c.9338G>A (p.Arg3113His)
|
rs141258018
|
0.00019
|
NM_001267550.2(TTN):c.94623C>T (p.Tyr31541=)
|
rs376539252
|
0.00019
|
NM_001267550.2(TTN):c.99560A>C (p.Lys33187Thr)
|
rs560306385
|
0.00019
|
NM_001283009.2(RTEL1):c.1349-9G>A
|
rs772899702
|
0.00019
|
NM_002234.4(KCNA5):c.898G>A (p.Gly300Ser)
|
rs148708451
|
0.00019
|
NM_003480.4(MFAP5):c.442C>T (p.Pro148Ser)
|
rs148770543
|
0.00019
|
NM_004612.4(TGFBR1):c.214A>T (p.Ile72Leu)
|
rs111513627
|
0.00019
|
NM_005188.4(CBL):c.2588A>G (p.Asn863Ser)
|
rs146250423
|
0.00019
|
NM_012082.4(ZFPM2):c.2107A>C (p.Met703Leu)
|
rs121908603
|
0.00019
|
NM_032043.3(BRIP1):c.628C>T (p.Pro210Ser)
|
rs150313156
|
0.00019
|
NM_053025.4(MYLK):c.257G>A (p.Arg86Gln)
|
rs138265409
|
0.00019
|
NM_144670.6(A2ML1):c.68A>G (p.Tyr23Cys)
|
rs750524549
|
0.00019
|
NM_000038.6(APC):c.5009C>T (p.Ala1670Val)
|
rs202228932
|
0.00018
|
NM_000051.4(ATM):c.3449G>C (p.Arg1150Thr)
|
rs555219189
|
0.00018
|
NM_000059.4(BRCA2):c.7712A>G (p.Glu2571Gly)
|
rs55689095
|
0.00018
|
NM_000138.5(FBN1):c.902G>T (p.Gly301Val)
|
rs142888621
|
0.00018
|
NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys)
|
rs45553235
|
0.00018
|
NM_000451.4(SHOX):c.577G>A (p.Ala193Thr)
|
rs376330042
|
0.00018
|
NM_001048174.2(MUTYH):c.1102+9A>T
|
rs587780742
|
0.00018
|
NM_001148.6(ANK2):c.9526G>T (p.Asp3176Tyr)
|
rs138928206
|
0.00018
|
NM_001267550.2(TTN):c.14232C>A (p.Asp4744Glu)
|
rs55906845
|
0.00018
|
NM_001267550.2(TTN):c.32706G>A (p.Ala10902=)
|
rs372124201
|
0.00018
|
NM_001267550.2(TTN):c.63439G>A (p.Ala21147Thr)
|
rs72646853
|
0.00018
|
NM_001267550.2(TTN):c.95961C>T (p.Ala31987=)
|
rs369405564
|
0.00018
|
NM_001267550.2(TTN):c.96234C>T (p.Tyr32078=)
|
rs376532382
|
0.00018
|
NM_001267550.2(TTN):c.96252A>G (p.Thr32084=)
|
rs369626133
|
0.00018
|
NM_003239.5(TGFB3):c.412T>G (p.Ser138Ala)
|
rs201453600
|
0.00018
|
NM_004415.4(DSP):c.269A>G (p.Gln90Arg)
|
rs188516326
|
0.00018
|
NM_020975.6(RET):c.1531G>A (p.Glu511Lys)
|
rs201553718
|
0.00018
|
NM_144997.7(FLCN):c.1523A>G (p.Lys508Arg)
|
rs199643834
|
0.00018
|
NM_000038.6(APC):c.3479C>A (p.Thr1160Lys)
|
rs201004111
|
0.00017
|
NM_000038.6(APC):c.7193C>T (p.Ser2398Phe)
|
rs150882838
|
0.00017
|
NM_000051.4(ATM):c.7381C>T (p.Arg2461Cys)
|
rs201314561
|
0.00017
|
NM_000090.4(COL3A1):c.4086C>T (p.Ser1362=)
|
rs779774302
|
0.00017
|
NM_000249.4(MLH1):c.1040C>A (p.Thr347Asn)
|
rs201541505
|
0.00017
|
NM_000256.3(MYBPC3):c.624G>C (p.Gln208His)
|
rs202139499
|
0.00017
|
NM_001042492.3(NF1):c.6172A>G (p.Ile2058Val)
|
rs201712827
|
0.00017
|
NM_001148.6(ANK2):c.7148C>T (p.Pro2383Leu)
|
rs35960628
|
0.00017
|
NM_001148.6(ANK2):c.7183A>C (p.Thr2395Pro)
|
rs201693280
|
0.00017
|
NM_001267550.2(TTN):c.1709C>T (p.Ala570Val)
|
rs146690035
|
0.00017
|
NM_001267550.2(TTN):c.687T>C (p.Phe229=)
|
rs376527094
|
0.00017
|
NM_001267550.2(TTN):c.77848C>T (p.Leu25950Phe)
|
rs376814602
|
0.00017
|
NM_003098.3(SNTA1):c.1088A>C (p.Glu363Ala)
|
rs147964932
|
0.00017
|
NM_005502.4(ABCA1):c.4250G>A (p.Arg1417His)
|
rs116034780
|
0.00017
|
NM_016169.4(SUFU):c.880G>A (p.Gly294Ser)
|
rs143807689
|
0.00017
|
NM_017617.5(NOTCH1):c.839A>G (p.Asn280Ser)
|
rs367825691
|
0.00017
|
NM_020297.4(ABCC9):c.4512+690C>T
|
rs397517191
|
0.00017
|
NM_032043.3(BRIP1):c.854A>G (p.His285Arg)
|
rs141055990
|
0.00017
|
NM_144670.6(A2ML1):c.1433C>T (p.Pro478Leu)
|
rs201762847
|
0.00017
|
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp)
|
rs201199629
|
0.00016
|
NM_000138.5(FBN1):c.59A>G (p.Tyr20Cys)
|
rs201309310
|
0.00016
|
NM_000138.5(FBN1):c.6380-3A>G
|
rs567703513
|
0.00016
|
NM_000268.4(NF2):c.613A>G (p.Met205Val)
|
rs141629512
|
0.00016
|
NM_000337.6(SGCD):c.92G>A (p.Arg31Gln)
|
rs200476861
|
0.00016
|
NM_000393.5(COL5A2):c.1633C>T (p.Arg545Trp)
|
rs145258293
|
0.00016
|
NM_000525.4(KCNJ11):c.1017G>T (p.Val339=)
|
rs770408379
|
0.00016
|
NM_000535.7(PMS2):c.2108C>T (p.Thr703Met)
|
rs370196722
|
0.00016
|
NM_000540.3(RYR1):c.9713A>G (p.Glu3238Gly)
|
rs200950673
|
0.00016
|
NM_001035.3(RYR2):c.2755G>A (p.Val919Met)
|
rs201079716
|
0.00016
|
NM_001060.6(TBXA2R):c.713A>G (p.Asp238Gly)
|
rs201310328
|
0.00016
|
NM_001105206.3(LAMA4):c.3175G>A (p.Val1059Met)
|
rs373650093
|
0.00016
|
NM_001267550.2(TTN):c.102877A>G (p.Lys34293Glu)
|
rs72629783
|
0.00016
|
NM_001267550.2(TTN):c.87771C>A (p.Gly29257=)
|
rs72648230
|
0.00016
|
NM_001458.5(FLNC):c.1081C>T (p.Arg361Cys)
|
rs200206944
|
0.00016
|
NM_001458.5(FLNC):c.1166G>A (p.Gly389Asp)
|
rs763039506
|
0.00016
|
NM_001927.4(DES):c.643G>A (p.Val215Met)
|
rs144908941
|
0.00016
|
NM_002471.4(MYH6):c.5293G>A (p.Ala1765Thr)
|
rs397516775
|
0.00016
|
NM_002474.3(MYH11):c.3291C>T (p.Ala1097=)
|
rs147605116
|
0.00016
|
NM_002474.3(MYH11):c.3932C>T (p.Ala1311Val)
|
rs185720909
|
0.00016
|
NM_002880.4(RAF1):c.122G>A (p.Arg41Gln)
|
rs145611571
|
0.00016
|
NM_004281.4(BAG3):c.1588G>A (p.Val530Met)
|
rs144678100
|
0.00016
|
NM_004281.4(BAG3):c.653G>A (p.Arg218Gln)
|
rs201638005
|
0.00016
|
NM_004360.5(CDH1):c.1568A>G (p.Tyr523Cys)
|
rs553907248
|
0.00016
|
NM_004415.4(DSP):c.4775A>G (p.Lys1592Arg)
|
rs200421954
|
0.00016
|
NM_005257.6(GATA6):c.271C>T (p.Pro91Ser)
|
rs766886560
|
0.00016
|
NM_005502.4(ABCA1):c.4773+6C>T
|
rs368667473
|
0.00016
|
NM_005591.4(MRE11):c.1643T>C (p.Ile548Thr)
|
rs373522639
|
0.00016
|
NM_005633.4(SOS1):c.2966G>A (p.Arg989Lys)
|
rs202043599
|
0.00016
|
NM_005633.4(SOS1):c.3709C>G (p.Pro1237Ala)
|
rs371408734
|
0.00016
|
NM_006506.5(RASA2):c.1960G>A (p.Val654Ile)
|
rs150847466
|
0.00016
|
NM_007294.4(BRCA1):c.4410A>T (p.Glu1470Asp)
|
rs80357075
|
0.00016
|
NM_017617.5(NOTCH1):c.3011C>T (p.Ser1004Leu)
|
rs201163739
|
0.00016
|
NM_024675.4(PALB2):c.1564C>T (p.Pro522Ser)
|
rs373876101
|
0.00016
|
NM_032043.3(BRIP1):c.2440C>T (p.Arg814Cys)
|
rs201869624
|
0.00016
|
NM_138694.4(PKHD1):c.2781A>G (p.Gln927=)
|
rs200511208
|
0.00016
|
NM_144573.4(NEXN):c.893C>G (p.Thr298Arg)
|
rs200753280
|
0.00016
|
NM_170707.4(LMNA):c.895A>G (p.Ile299Val)
|
rs150924946
|
0.00016
|
NM_000038.6(APC):c.1606G>A (p.Glu536Lys)
|
rs138098808
|
0.00015
|
NM_000059.4(BRCA2):c.6560C>T (p.Pro2187Leu)
|
rs56019712
|
0.00015
|
NM_000138.5(FBN1):c.3423G>A (p.Pro1141=)
|
rs140396599
|
0.00015
|
NM_000138.5(FBN1):c.7056C>T (p.Ser2352=)
|
rs149697299
|
0.00015
|
NM_000218.3(KCNQ1):c.217C>A (p.Pro73Thr)
|
rs199472676
|
0.00015
|
NM_000492.4(CFTR):c.360G>A (p.Ala120=)
|
rs1800077
|
0.00015
|
NM_001042492.3(NF1):c.107C>G (p.Thr36Ser)
|
rs199966218
|
0.00015
|
NM_001079802.2(FKTN):c.333T>C (p.Thr111=)
|
rs141729611
|
0.00015
|
NM_001267550.2(TTN):c.49871G>A (p.Arg16624Gln)
|
rs367566671
|
0.00015
|
NM_001267550.2(TTN):c.80527T>C (p.Leu26843=)
|
rs142004835
|
0.00015
|
NM_002317.7(LOX):c.308G>C (p.Arg103Pro)
|
rs200513395
|
0.00015
|
NM_004360.5(CDH1):c.2329G>A (p.Asp777Asn)
|
rs372989292
|
0.00015
|
NM_005591.4(MRE11):c.1504C>T (p.Arg502Cys)
|
rs186333183
|
0.00015
|
NM_005732.4(RAD50):c.1277A>G (p.Gln426Arg)
|
rs145428112
|
0.00015
|
NM_006231.4(POLE):c.2974G>A (p.Ala992Thr)
|
rs115193764
|
0.00015
|
NM_016203.4(PRKAG2):c.698C>G (p.Ala233Gly)
|
rs201240745
|
0.00015
|
NM_053025.4(MYLK):c.2023G>A (p.Gly675Arg)
|
rs147008323
|
0.00015
|
NM_182961.4(SYNE1):c.4723C>T (p.Leu1575Phe)
|
rs200424447
|
0.00015
|
NM_000038.6(APC):c.7109G>T (p.Gly2370Val)
|
rs140079759
|
0.00014
|
NM_000051.4(ATM):c.3077+4G>A
|
rs201222237
|
0.00014
|
NM_000051.4(ATM):c.4066A>G (p.Asn1356Asp)
|
rs147600485
|
0.00014
|
NM_000059.4(BRCA2):c.742G>A (p.Ala248Thr)
|
rs55854959
|
0.00014
|
NM_000090.4(COL3A1):c.4021G>A (p.Gly1341Ser)
|
rs140646380
|
0.00014
|
NM_000138.5(FBN1):c.7661G>A (p.Arg2554Gln)
|
rs199522781
|
0.00014
|
NM_000179.3(MSH6):c.2398G>C (p.Val800Leu)
|
rs61748083
|
0.00014
|
NM_000179.3(MSH6):c.884A>G (p.Lys295Arg)
|
rs267608051
|
0.00014
|
NM_000219.6(KCNE1):c.325G>A (p.Val109Ile)
|
rs77442996
|
0.00014
|
NM_000249.4(MLH1):c.803A>G (p.Glu268Gly)
|
rs63750650
|
0.00014
|
NM_000251.3(MSH2):c.1748A>G (p.Asn583Ser)
|
rs201118107
|
0.00014
|
NM_000492.4(CFTR):c.2559T>C (p.Ile853=)
|
rs1800104
|
0.00014
|
NM_000719.7(CACNA1C):c.202G>A (p.Ala68Thr)
|
rs752000790
|
0.00014
|
NM_001035.3(RYR2):c.1476+4C>T
|
rs369442980
|
0.00014
|
NM_001035.3(RYR2):c.3152G>A (p.Arg1051His)
|
rs79457258
|
0.00014
|
NM_001042492.3(NF1):c.2133C>T (p.Arg711=)
|
rs148085908
|
0.00014
|
NM_001134363.3(RBM20):c.2393C>T (p.Pro798Leu)
|
rs730880184
|
0.00014
|
NM_001165963.4(SCN1A):c.579C>T (p.Leu193=)
|
rs116478064
|
0.00014
|
NM_001267550.2(TTN):c.103104A>G (p.Leu34368=)
|
rs371535721
|
0.00014
|
NM_001267550.2(TTN):c.52331G>A (p.Arg17444His)
|
rs376080116
|
0.00014
|
NM_001267550.2(TTN):c.59282A>G (p.Asn19761Ser)
|
rs563969986
|
0.00014
|
NM_001267550.2(TTN):c.82103A>G (p.Asp27368Gly)
|
rs145373396
|
0.00014
|
NM_001267550.2(TTN):c.89946C>T (p.Val29982=)
|
rs373311459
|
0.00014
|
NM_001267550.2(TTN):c.99340T>C (p.Leu33114=)
|
rs371656672
|
0.00014
|
NM_001458.5(FLNC):c.5020G>A (p.Gly1674Ser)
|
rs374124083
|
0.00014
|
NM_002485.5(NBN):c.456G>A (p.Met152Ile)
|
rs201816949
|
0.00014
|
NM_004100.5(EYA4):c.1418G>T (p.Gly473Val)
|
rs146977269
|
0.00014
|
NM_004329.3(BMPR1A):c.1235T>C (p.Val412Ala)
|
rs576247658
|
0.00014
|
NM_005502.4(ABCA1):c.6730G>A (p.Val2244Ile)
|
rs144588452
|
0.00014
|
NM_005751.5(AKAP9):c.10741T>G (p.Cys3581Gly)
|
rs149819328
|
0.00014
|
NM_005751.5(AKAP9):c.11714T>C (p.Met3905Thr)
|
rs77447750
|
0.00014
|
NM_006231.4(POLE):c.4237G>A (p.Glu1413Lys)
|
rs372901803
|
0.00014
|
NM_006767.4(LZTR1):c.488C>T (p.Thr163Met)
|
rs200806641
|
0.00014
|
NM_007194.4(CHEK2):c.1489G>A (p.Asp497Asn)
|
rs143965148
|
0.00014
|
NM_007294.4(BRCA1):c.1561G>A (p.Ala521Thr)
|
rs80357122
|
0.00014
|
NM_017617.5(NOTCH1):c.6509G>A (p.Ser2170Asn)
|
rs200254239
|
0.00014
|
NM_017668.3(NDE1):c.990G>A (p.Arg330=)
|
rs143588920
|
0.00014
|
NM_139076.3(ABRAXAS1):c.941A>G (p.Asn314Ser)
|
rs376489465
|
0.00014
|
NM_144670.6(A2ML1):c.1856G>C (p.Trp619Ser)
|
rs369180298
|
0.00014
|
NM_181507.2(HPS5):c.1514A>G (p.Asn505Ser)
|
rs143265437
|
0.00014
|
NM_201596.3(CACNB2):c.1696G>A (p.Ala566Thr)
|
rs202218948
|
0.00014
|
NM_206933.4(USH2A):c.14517G>A (p.Thr4839=)
|
rs397517991
|
0.00014
|
NM_000051.4(ATM):c.1773T>C (p.Asn591=)
|
rs61734356
|
0.00013
|
NM_000051.4(ATM):c.8671+9T>G
|
rs200190537
|
0.00013
|
NM_000075.4(CDK4):c.122A>G (p.Asn41Ser)
|
rs144890720
|
0.00013
|
NM_000088.4(COL1A1):c.1583G>A (p.Arg528His)
|
rs144751329
|
0.00013
|
NM_000090.4(COL3A1):c.3299G>A (p.Arg1100His)
|
rs370069953
|
0.00013
|
NM_000179.3(MSH6):c.187T>C (p.Ser63Pro)
|
rs763702846
|
0.00013
|
NM_000179.3(MSH6):c.59C>T (p.Ala20Val)
|
rs63750664
|
0.00013
|
NM_000179.3(MSH6):c.650A>G (p.Asp217Gly)
|
rs554012110
|
0.00013
|
NM_000314.6(PTEN):c.-909T>C
|
rs550385924
|
0.00013
|
NM_000441.2(SLC26A4):c.1905G>A (p.Glu635=)
|
rs541538556
|
0.00013
|
NM_000455.5(STK11):c.1071G>T (p.Glu357Asp)
|
rs556651007
|
0.00013
|
NM_000535.7(PMS2):c.1556A>G (p.Tyr519Cys)
|
rs63750649
|
0.00013
|
NM_000540.3(RYR1):c.9152G>A (p.Arg3051His)
|
rs147303895
|
0.00013
|
NM_000545.8(HNF1A):c.521C>T (p.Ala174Val)
|
rs201934320
|
0.00013
|
NM_001035.3(RYR2):c.3251G>A (p.Arg1084Lys)
|
rs193922624
|
0.00013
|
NM_001103.4(ACTN2):c.1040C>T (p.Thr347Met)
|
rs727504590
|
0.00013
|
NM_001267550.2(TTN):c.23925C>T (p.Ser7975=)
|
rs374879942
|
0.00013
|
NM_001267550.2(TTN):c.28131C>T (p.Asn9377=)
|
rs72648997
|
0.00013
|
NM_001267550.2(TTN):c.82810G>A (p.Gly27604Ser)
|
rs199929362
|
0.00013
|
NM_001943.5(DSG2):c.545A>G (p.Asn182Ser)
|
rs368512832
|
0.00013
|
NM_002230.4(JUP):c.545C>T (p.Ser182Leu)
|
rs145592971
|
0.00013
|
NM_002471.4(MYH6):c.1252G>A (p.Val418Met)
|
rs147606900
|
0.00013
|
NM_002691.4(POLD1):c.371T>C (p.Val124Ala)
|
rs199993010
|
0.00013
|
NM_002880.4(RAF1):c.94A>G (p.Ile32Val)
|
rs372738063
|
0.00013
|
NM_004360.5(CDH1):c.2635G>A (p.Gly879Ser)
|
rs200911775
|
0.00013
|
NM_005633.4(SOS1):c.1668A>C (p.Val556=)
|
rs376314461
|
0.00013
|
NM_005633.4(SOS1):c.3600C>G (p.Asp1200Glu)
|
rs141594736
|
0.00013
|
NM_005633.4(SOS1):c.3946C>G (p.His1316Asp)
|
rs371024396
|
0.00013
|
NM_005751.5(AKAP9):c.2311G>A (p.Ala771Thr)
|
rs148267537
|
0.00013
|
NM_007194.4(CHEK2):c.7C>T (p.Arg3Trp)
|
rs199708878
|
0.00013
|
NM_014000.3(VCL):c.1403C>T (p.Thr468Met)
|
rs147957747
|
0.00013
|
NM_024675.4(PALB2):c.232G>A (p.Val78Ile)
|
rs515726085
|
0.00013
|
NM_024675.4(PALB2):c.3257G>A (p.Arg1086Gln)
|
rs146377793
|
0.00013
|
NM_053025.4(MYLK):c.2629G>A (p.Val877Met)
|
rs34542174
|
0.00013
|
NM_144670.6(A2ML1):c.2405G>A (p.Arg802His)
|
rs201562272
|
0.00013
|
NM_000038.6(APC):c.1631T>C (p.Ile544Thr)
|
rs144056494
|
0.00012
|
NM_000038.6(APC):c.5392A>G (p.Asn1798Asp)
|
rs200794097
|
0.00012
|
NM_000038.6(APC):c.6873A>T (p.Gln2291His)
|
rs148878262
|
0.00012
|
NM_000264.5(PTCH1):c.3376G>A (p.Val1126Ile)
|
rs147025073
|
0.00012
|
NM_000535.7(PMS2):c.2445G>A (p.Ser815=)
|
rs753199796
|
0.00012
|
NM_000535.7(PMS2):c.595C>T (p.Arg199Cys)
|
rs372297364
|
0.00012
|
NM_000548.5(TSC2):c.4094C>T (p.Ser1365Leu)
|
rs377123510
|
0.00012
|
NM_001103.4(ACTN2):c.1748A>G (p.Glu583Gly)
|
rs200631005
|
0.00012
|
NM_001267550.2(TTN):c.48394C>T (p.Arg16132Cys)
|
rs2303830
|
0.00012
|
NM_001267550.2(TTN):c.54321A>G (p.Ala18107=)
|
rs368021072
|
0.00012
|
NM_001267550.2(TTN):c.77052C>T (p.Gly25684=)
|
rs372543652
|
0.00012
|
NM_001492.6(GDF1):c.925T>C (p.Ser309Pro)
|
rs864622513
|
0.00012
|
NM_002880.4(RAF1):c.1721A>G (p.Tyr574Cys)
|
rs370242565
|
0.00012
|
NM_003000.3(SDHB):c.403G>A (p.Val135Met)
|
rs201585157
|
0.00012
|
NM_004004.6(GJB2):c.120A>C (p.Ala40=)
|
rs561870637
|
0.00012
|
NM_004415.4(DSP):c.2037A>G (p.Ile679Met)
|
rs151049942
|
0.00012
|
NM_004612.4(TGFBR1):c.470G>C (p.Arg157Pro)
|
rs147146713
|
0.00012
|
NM_006231.4(POLE):c.4370G>T (p.Gly1457Val)
|
rs776534749
|
0.00012
|
NM_006790.3(MYOT):c.1286C>G (p.Ala429Gly)
|
rs144731446
|
0.00012
|
NM_007294.4(BRCA1):c.1233T>G (p.Asp411Glu)
|
rs80357024
|
0.00012
|
NM_020975.6(RET):c.398G>A (p.Arg133His)
|
rs138265837
|
0.00012
|
NM_053025.4(MYLK):c.2474C>T (p.Pro825Leu)
|
rs201332554
|
0.00012
|
NM_144997.7(FLCN):c.977C>T (p.Pro326Leu)
|
rs138031155
|
0.00012
|
NM_000038.6(APC):c.3875C>T (p.Thr1292Met)
|
rs371113837
|
0.00011
|
NM_000051.4(ATM):c.2346A>G (p.Leu782=)
|
rs730881285
|
0.00011
|
NM_000053.4(ATP7B):c.3396C>T (p.Ser1132=)
|
rs370947152
|
0.00011
|
NM_000090.4(COL3A1):c.226A>G (p.Asn76Asp)
|
rs142045411
|
0.00011
|
NM_000138.5(FBN1):c.4214T>G (p.Leu1405Arg)
|
rs767606368
|
0.00011
|
NM_000169.3(GLA):c.48T>G (p.Leu16=)
|
rs201449986
|
0.00011
|
NM_000251.3(MSH2):c.128A>G (p.Tyr43Cys)
|
rs17217723
|
0.00011
|
NM_000251.3(MSH2):c.1461C>G (p.Asp487Glu)
|
rs35107951
|
0.00011
|
NM_000251.3(MSH2):c.1790A>C (p.Asp597Ala)
|
rs548407418
|
0.00011
|
NM_000251.3(MSH2):c.2203A>G (p.Ile735Val)
|
rs2229061
|
0.00011
|
NM_000251.3(MSH2):c.2785C>T (p.Arg929Ter)
|
rs551060742
|
0.00011
|
NM_000251.3(MSH2):c.557A>G (p.Asn186Ser)
|
rs151129360
|
0.00011
|
NM_000337.6(SGCD):c.191T>C (p.Ile64Thr)
|
rs376780156
|
0.00011
|
NM_000393.5(COL5A2):c.1292A>G (p.Lys431Arg)
|
rs144602736
|
0.00011
|
NM_000455.5(STK11):c.1038C>T (p.Gly346=)
|
rs767565606
|
0.00011
|
NM_000527.5(LDLR):c.2106G>A (p.Met702Ile)
|
rs140731590
|
0.00011
|
NM_000535.7(PMS2):c.1559C>T (p.Ala520Val)
|
rs63751300
|
0.00011
|
NM_000535.7(PMS2):c.857A>G (p.Asp286Gly)
|
rs116788608
|
0.00011
|
NM_001035.3(RYR2):c.9655G>A (p.Val3219Met)
|
rs371147744
|
0.00011
|
NM_001267550.2(TTN):c.102737G>A (p.Arg34246His)
|
rs372716177
|
0.00011
|
NM_001267550.2(TTN):c.1449C>T (p.Ala483=)
|
rs141617218
|
0.00011
|
NM_001267550.2(TTN):c.18379T>G (p.Cys6127Gly)
|
rs370812788
|
0.00011
|
NM_001267550.2(TTN):c.22090C>T (p.Arg7364Trp)
|
rs397517500
|
0.00011
|
NM_001267550.2(TTN):c.50858-3C>T
|
rs587782987
|
0.00011
|
NM_001267550.2(TTN):c.98556T>C (p.Gly32852=)
|
rs373853269
|
0.00011
|
NM_001347702.2(SYNE1):c.1464T>G (p.Pro488=)
|
rs770649913
|
0.00011
|
NM_002474.3(MYH11):c.3562C>T (p.Arg1188Trp)
|
rs146388001
|
0.00011
|
NM_002485.5(NBN):c.1036G>A (p.Val346Met)
|
rs200297914
|
0.00011
|
NM_002485.5(NBN):c.1914+10G>A
|
rs577706448
|
0.00011
|
NM_002693.3(POLG):c.1066C>T (p.Leu356=)
|
rs371431444
|
0.00011
|
NM_004360.5(CDH1):c.1223C>T (p.Ala408Val)
|
rs138135866
|
0.00011
|
NM_004360.5(CDH1):c.2512A>G (p.Ser838Gly)
|
rs121964872
|
0.00011
|
NM_005502.4(ABCA1):c.1716G>A (p.Gly572=)
|
rs143299210
|
0.00011
|
NM_006231.4(POLE):c.3763T>C (p.Leu1255=)
|
rs745838504
|
0.00011
|
NM_006231.4(POLE):c.4603G>A (p.Gly1535Ser)
|
rs138564205
|
0.00011
|
NM_006790.3(MYOT):c.533G>A (p.Arg178His)
|
rs150293853
|
0.00011
|
NM_007294.4(BRCA1):c.693G>A (p.Thr231=)
|
rs62625298
|
0.00011
|
NM_007294.4(BRCA1):c.694G>A (p.Asp232Asn)
|
rs55975699
|
0.00011
|
NM_020975.6(RET):c.2601G>T (p.Glu867Asp)
|
rs141459368
|
0.00011
|
NM_022437.3(ABCG8):c.546C>T (p.Ala182=)
|
rs774395087
|
0.00011
|
NM_024675.4(PALB2):c.1250C>A (p.Ser417Tyr)
|
rs45510998
|
0.00011
|
NM_144670.6(A2ML1):c.2773G>A (p.Ala925Thr)
|
rs201363860
|
0.00011
|
NM_000051.4(ATM):c.7494T>C (p.Ser2498=)
|
rs34393781
|
0.00010
|
NM_000059.4(BRCA2):c.5414A>G (p.Asn1805Ser)
|
rs80358765
|
0.00010
|
NM_000077.5(CDKN2A):c.261G>A (p.Arg87=)
|
rs546300971
|
0.00010
|
NM_000249.4(MLH1):c.1964T>C (p.Ile655Thr)
|
rs63751225
|
0.00010
|
NM_000256.3(MYBPC3):c.529C>T (p.Arg177Cys)
|
rs193922385
|
0.00010
|
NM_000264.5(PTCH1):c.324A>G (p.Ile108Met)
|
rs144182921
|
0.00010
|
NM_000335.5(SCN5A):c.5199C>T (p.Asn1733=)
|
rs368980118
|
0.00010
|
NM_000337.6(SGCD):c.793G>A (p.Val265Ile)
|
rs772185467
|
0.00010
|
NM_000451.4(SHOX):c.698C>T (p.Ala233Val)
|
rs750375727
|
0.00010
|
NM_001103.4(ACTN2):c.690T>A (p.Asp230Glu)
|
rs139489232
|
0.00010
|
NM_001110556.2(FLNA):c.7903G>A (p.Glu2635Lys)
|
rs369717556
|
0.00010
|
NM_001134363.3(RBM20):c.2761A>G (p.Ile921Val)
|
rs397516608
|
0.00010
|
NM_001148.6(ANK2):c.3074G>C (p.Gly1025Ala)
|
rs773532854
|
0.00010
|
NM_001267550.2(TTN):c.63917G>A (p.Arg21306His)
|
rs202240487
|
0.00010
|
NM_001267550.2(TTN):c.63960T>A (p.Val21320=)
|
rs397517655
|
0.00010
|
NM_001267550.2(TTN):c.68165A>G (p.Asn22722Ser)
|
rs200493270
|
0.00010
|
NM_001267550.2(TTN):c.70131A>G (p.Thr23377=)
|
rs369503828
|
0.00010
|
NM_001999.4(FBN2):c.6681A>G (p.Thr2227=)
|
rs145681607
|
0.00010
|
NM_002471.4(MYH6):c.1347G>T (p.Glu449Asp)
|
rs142059069
|
0.00010
|
NM_002880.4(RAF1):c.935T>C (p.Val312Ala)
|
rs370243307
|
0.00010
|
NM_003239.5(TGFB3):c.873G>A (p.Pro291=)
|
rs370006165
|
0.00010
|
NM_004415.4(DSP):c.3616T>A (p.Leu1206Ile)
|
rs151115778
|
0.00010
|
NM_005188.4(CBL):c.2312A>T (p.Asp771Val)
|
rs199788586
|
0.00010
|
NM_005359.6(SMAD4):c.424+5G>A
|
rs200772603
|
0.00010
|
NM_005732.4(RAD50):c.2548C>T (p.Arg850Cys)
|
rs181961360
|
0.00010
|
NM_014000.3(VCL):c.829C>A (p.Leu277Met)
|
rs71579353
|
0.00010
|
NM_024422.6(DSC2):c.1721G>A (p.Ser574Asn)
|
rs150318400
|
0.00010
|
NM_024675.4(PALB2):c.11C>T (p.Pro4Leu)
|
rs45619737
|
0.00010
|
NM_032520.5(GNPTG):c.887G>A (p.Arg296Gln)
|
rs561640998
|
0.00010
|
NM_000051.4(ATM):c.6820G>A (p.Ala2274Thr)
|
rs567060474
|
0.00009
|
NM_000059.4(BRCA2):c.4614T>C (p.Ser1538=)
|
rs45520945
|
0.00009
|
NM_000059.4(BRCA2):c.6475C>G (p.Gln2159Glu)
|
rs398122558
|
0.00009
|
NM_000059.4(BRCA2):c.7601C>T (p.Ala2534Val)
|
rs74047012
|
0.00009
|
NM_000081.4(LYST):c.281C>T (p.Thr94Ile)
|
rs777389303
|
0.00009
|
NM_000090.4(COL3A1):c.2498A>G (p.Lys833Arg)
|
rs371344739
|
0.00009
|
NM_000152.5(GAA):c.664G>A (p.Val222Met)
|
rs374569672
|
0.00009
|
NM_000169.3(GLA):c.945C>T (p.Asp315=)
|
rs151208856
|
0.00009
|
NM_000179.3(MSH6):c.1063G>A (p.Gly355Ser)
|
rs587778531
|
0.00009
|
NM_000179.3(MSH6):c.3439-10T>A
|
rs730881819
|
0.00009
|
NM_000179.3(MSH6):c.3727A>T (p.Thr1243Ser)
|
rs147453999
|
0.00009
|
NM_000179.3(MSH6):c.660A>C (p.Glu220Asp)
|
rs1800938
|
0.00009
|
NM_000251.3(MSH2):c.317G>A (p.Arg106Lys)
|
rs41295286
|
0.00009
|
NM_000314.6(PTEN):c.-920G>A
|
rs786204937
|
0.00009
|
NM_000321.3(RB1):c.628G>T (p.Asp210Tyr)
|
rs148992508
|
0.00009
|
NM_000465.4(BARD1):c.1694G>A (p.Arg565His)
|
rs146946984
|
0.00009
|
NM_000492.4(CFTR):c.3564G>A (p.Ser1188=)
|
rs146804928
|
0.00009
|
NM_000535.7(PMS2):c.993C>T (p.Cys331=)
|
rs186577215
|
0.00009
|
NM_001035.3(RYR2):c.2828T>C (p.Leu943Ser)
|
rs373665895
|
0.00009
|
NM_001035.3(RYR2):c.4273A>G (p.Thr1425Ala)
|
rs776046135
|
0.00009
|
NM_001035.3(RYR2):c.7511C>T (p.Thr2504Met)
|
rs769219555
|
0.00009
|
NM_001048174.2(MUTYH):c.612C>T (p.Thr204=)
|
rs780747266
|
0.00009
|
NM_001103.4(ACTN2):c.1292C>T (p.Ser431Leu)
|
rs149846886
|
0.00009
|
NM_001134831.2(AHI1):c.653A>G (p.Tyr218Cys)
|
rs183936286
|
0.00009
|
NM_001148.6(ANK2):c.2060A>G (p.Asn687Ser)
|
rs29372
|
0.00009
|
NM_001267550.2(TTN):c.21642C>T (p.Asn7214=)
|
rs752620885
|
0.00009
|
NM_001267550.2(TTN):c.25563C>T (p.Gly8521=)
|
rs556205722
|
0.00009
|
NM_001267550.2(TTN):c.31875A>C (p.Thr10625=)
|
rs182934463
|
0.00009
|
NM_001360.3(DHCR7):c.1155C>T (p.Ala385=)
|
rs777517985
|
0.00009
|
NM_001927.4(DES):c.250G>A (p.Gly84Ser)
|
rs200545412
|
0.00009
|
NM_001999.4(FBN2):c.3296G>A (p.Arg1099His)
|
rs202050092
|
0.00009
|
NM_001999.4(FBN2):c.5275A>C (p.Lys1759Gln)
|
rs201113098
|
0.00009
|
NM_002474.3(MYH11):c.5226G>C (p.Glu1742Asp)
|
rs144421849
|
0.00009
|
NM_002834.5(PTPN11):c.1449T>G (p.Gly483=)
|
rs143238917
|
0.00009
|
NM_002878.4(RAD51D):c.864C>T (p.Gly288=)
|
rs138557828
|
0.00009
|
NM_004006.3(DMD):c.7427A>G (p.Asn2476Ser)
|
rs757394130
|
0.00009
|
NM_004281.4(BAG3):c.554C>T (p.Ser185Leu)
|
rs730880054
|
0.00009
|
NM_004415.4(DSP):c.4175G>A (p.Arg1392Gln)
|
rs201736018
|
0.00009
|
NM_006912.6(RIT1):c.634C>T (p.Arg212Trp)
|
rs563231684
|
0.00009
|
NM_007194.4(CHEK2):c.1217G>A (p.Arg406His)
|
rs200649225
|
0.00009
|
NM_007194.4(CHEK2):c.556A>C (p.Asn186His)
|
rs146198085
|
0.00009
|
NM_022437.3(ABCG8):c.870C>T (p.Thr290=)
|
rs117221284
|
0.00009
|
NM_024675.4(PALB2):c.3251C>T (p.Ser1084Leu)
|
rs62625271
|
0.00009
|
NM_024675.4(PALB2):c.3508C>T (p.His1170Tyr)
|
rs200283306
|
0.00009
|
NM_032043.3(BRIP1):c.316C>T (p.Arg106Cys)
|
rs587780247
|
0.00009
|
NM_144670.6(A2ML1):c.2677C>T (p.Arg893Ter)
|
rs199651558
|
0.00009
|
NM_000038.6(APC):c.6679G>T (p.Gly2227Cys)
|
rs367905430
|
0.00008
|
NM_000038.6(APC):c.721G>A (p.Glu241Lys)
|
rs777603154
|
0.00008
|
NM_000179.3(MSH6):c.1474A>G (p.Met492Val)
|
rs61754783
|
0.00008
|
NM_000249.4(MLH1):c.1742C>T (p.Pro581Leu)
|
rs63751684
|
0.00008
|
NM_000251.3(MSH2):c.1217G>A (p.Arg406Gln)
|
rs146567853
|
0.00008
|
NM_000251.3(MSH2):c.4G>A (p.Ala2Thr)
|
rs63750466
|
0.00008
|
NM_000251.3(MSH2):c.913G>A (p.Ala305Thr)
|
rs63751454
|
0.00008
|
NM_000384.3(APOB):c.13288T>A (p.Ser4430Thr)
|
rs72654426
|
0.00008
|
NM_000465.4(BARD1):c.1409A>G (p.Asn470Ser)
|
rs587781976
|
0.00008
|
NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp)
|
rs199739859
|
0.00008
|
NM_000535.7(PMS2):c.2127C>T (p.Phe709=)
|
rs199943748
|
0.00008
|
NM_001035.3(RYR2):c.3721G>A (p.Val1241Ile)
|
rs185715460
|
0.00008
|
NM_001035.3(RYR2):c.4735G>A (p.Val1579Met)
|
rs763389778
|
0.00008
|
NM_001267550.2(TTN):c.25637A>G (p.Gln8546Arg)
|
rs548471822
|
0.00008
|
NM_001267550.2(TTN):c.60976G>A (p.Ala20326Thr)
|
rs370995867
|
0.00008
|
NM_001927.4(DES):c.216C>A (p.Ser72Arg)
|
rs375719734
|
0.00008
|
NM_002230.4(JUP):c.475G>T (p.Val159Leu)
|
rs782702266
|
0.00008
|
NM_002471.4(MYH6):c.3867G>T (p.Leu1289Phe)
|
rs138127105
|
0.00008
|
NM_002691.4(POLD1):c.2317G>A (p.Ala773Thr)
|
rs753865441
|
0.00008
|
NM_004281.4(BAG3):c.211C>T (p.Arg71Trp)
|
rs387906874
|
0.00008
|
NM_004360.5(CDH1):c.164T>G (p.Val55Gly)
|
rs587778174
|
0.00008
|
NM_005359.6(SMAD4):c.852A>G (p.Gln284=)
|
rs144378484
|
0.00008
|
NM_006361.6(HOXB13):c.832G>T (p.Val278Leu)
|
rs200997384
|
0.00008
|
NM_020975.6(RET):c.2611G>A (p.Val871Ile)
|
rs145170911
|
0.00008
|
NM_021098.3(CACNA1H):c.5346C>T (p.Cys1782=)
|
rs375518094
|
0.00008
|
NM_022437.3(ABCG8):c.1650G>A (p.Ala550=)
|
rs145754381
|
0.00008
|
NM_024334.3(TMEM43):c.428C>T (p.Thr143Met)
|
rs544554435
|
0.00008
|
NM_024675.4(PALB2):c.2474G>C (p.Arg825Thr)
|
rs146218439
|
0.00008
|
NM_024675.4(PALB2):c.2509G>A (p.Glu837Lys)
|
rs587778587
|
0.00008
|
NM_030662.4(MAP2K2):c.853G>A (p.Asp285Asn)
|
rs150369301
|
0.00008
|
NM_152594.3(SPRED1):c.587C>T (p.Thr196Ile)
|
rs147474792
|
0.00008
|
NM_170707.4(LMNA):c.471G>A (p.Thr157=)
|
rs150645079
|
0.00008
|
NM_000038.6(APC):c.7717A>G (p.Ile2573Val)
|
rs145444830
|
0.00007
|
NM_000038.6(APC):c.8389A>G (p.Ser2797Gly)
|
rs147287751
|
0.00007
|
NM_000051.4(ATM):c.2021A>G (p.His674Arg)
|
rs201762714
|
0.00007
|
NM_000051.4(ATM):c.749G>A (p.Arg250Gln)
|
rs56123940
|
0.00007
|
NM_000059.4(BRCA2):c.1167G>A (p.Pro389=)
|
rs148607710
|
0.00007
|
NM_000059.4(BRCA2):c.6877T>C (p.Phe2293Leu)
|
rs80358912
|
0.00007
|
NM_000059.4(BRCA2):c.841G>A (p.Asp281Asn)
|
rs80359088
|
0.00007
|
NM_000075.4(CDK4):c.776C>T (p.Ser259Leu)
|
rs201617914
|
0.00007
|
NM_000093.5(COL5A1):c.4658C>T (p.Pro1553Leu)
|
rs530570306
|
0.00007
|
NM_000138.5(FBN1):c.2746G>A (p.Val916Met)
|
rs373644734
|
0.00007
|
NM_000152.5(GAA):c.2157G>A (p.Ala719=)
|
rs201523530
|
0.00007
|
NM_000179.3(MSH6):c.1054G>A (p.Val352Ile)
|
rs730881787
|
0.00007
|
NM_000245.4(MET):c.3218C>T (p.Pro1073Leu)
|
rs370529693
|
0.00007
|
NM_000249.4(MLH1):c.1379A>C (p.Glu460Ala)
|
rs202038499
|
0.00007
|
NM_000249.4(MLH1):c.277A>G (p.Ser93Gly)
|
rs41295282
|
0.00007
|
NM_000251.3(MSH2):c.1045C>G (p.Pro349Ala)
|
rs267607939
|
0.00007
|
NM_000251.3(MSH2):c.2732T>G (p.Leu911Arg)
|
rs41295182
|
0.00007
|
NM_000492.4(CFTR):c.1043T>A (p.Met348Lys)
|
rs142920240
|
0.00007
|
NM_001103.4(ACTN2):c.331G>A (p.Gly111Arg)
|
rs148628141
|
0.00007
|
NM_001110556.2(FLNA):c.3379G>A (p.Val1127Met)
|
rs398123617
|
0.00007
|
NM_001148.6(ANK2):c.3931G>A (p.Val1311Ile)
|
rs34065266
|
0.00007
|
NM_001148.6(ANK2):c.4016C>T (p.Pro1339Leu)
|
rs371357815
|
0.00007
|
NM_001267550.2(TTN):c.52890C>T (p.Thr17630=)
|
rs374228930
|
0.00007
|
NM_001267550.2(TTN):c.70042G>A (p.Ala23348Thr)
|
rs775146212
|
0.00007
|
NM_001943.5(DSG2):c.3244C>G (p.Pro1082Ala)
|
rs191300661
|
0.00007
|
NM_002474.3(MYH11):c.4681G>A (p.Ala1561Thr)
|
rs138863103
|
0.00007
|
NM_003098.3(SNTA1):c.1442C>T (p.Ser481Leu)
|
rs370531842
|
0.00007
|
NM_004281.4(BAG3):c.827G>A (p.Arg276Gln)
|
rs372970842
|
0.00007
|
NM_004329.3(BMPR1A):c.499A>G (p.Met167Val)
|
rs200951235
|
0.00007
|
NM_004360.5(CDH1):c.1297G>A (p.Asp433Asn)
|
rs199886166
|
0.00007
|
NM_005633.4(SOS1):c.1829T>C (p.Ile610Thr)
|
rs776146535
|
0.00007
|
NM_005633.4(SOS1):c.3269C>T (p.Pro1090Leu)
|
rs730881034
|
0.00007
|
NM_005732.4(RAD50):c.1911T>A (p.Asp637Glu)
|
rs144749616
|
0.00007
|
NM_005751.5(AKAP9):c.5284A>G (p.Lys1762Glu)
|
rs568626378
|
0.00007
|
NM_017617.5(NOTCH1):c.3853G>A (p.Val1285Met)
|
rs756972680
|
0.00007
|
NM_025114.4(CEP290):c.343A>G (p.Asn115Asp)
|
rs140236736
|
0.00007
|
NM_138694.4(PKHD1):c.11007G>A (p.Ser3669=)
|
rs142855690
|
0.00007
|
NM_000038.6(APC):c.2110G>A (p.Val704Ile)
|
rs367804502
|
0.00006
|
NM_000038.6(APC):c.3632T>G (p.Met1211Arg)
|
rs575268622
|
0.00006
|
NM_000038.6(APC):c.4072G>A (p.Ala1358Thr)
|
rs139618756
|
0.00006
|
NM_000038.6(APC):c.5026A>G (p.Arg1676Gly)
|
rs370560998
|
0.00006
|
NM_000038.6(APC):c.5140G>A (p.Asp1714Asn)
|
rs148275069
|
0.00006
|
NM_000038.6(APC):c.7399C>A (p.Pro2467Thr)
|
rs372305287
|
0.00006
|
NM_000038.6(APC):c.7888G>A (p.Val2630Ile)
|
rs199688874
|
0.00006
|
NM_000038.6(APC):c.8107A>G (p.Lys2703Glu)
|
rs730881270
|
0.00006
|
NM_000051.4(ATM):c.610G>A (p.Gly204Arg)
|
rs147915571
|
0.00006
|
NM_000059.4(BRCA2):c.1011C>T (p.Asn337=)
|
rs41293473
|
0.00006
|
NM_000059.4(BRCA2):c.2957A>G (p.Asn986Ser)
|
rs28897718
|
0.00006
|
NM_000059.4(BRCA2):c.3073A>G (p.Lys1025Glu)
|
rs80358550
|
0.00006
|
NM_000059.4(BRCA2):c.3715A>G (p.Lys1239Glu)
|
rs374191973
|
0.00006
|
NM_000059.4(BRCA2):c.6325G>A (p.Val2109Ile)
|
rs79456940
|
0.00006
|
NM_000059.4(BRCA2):c.7057G>C (p.Gly2353Arg)
|
rs80358935
|
0.00006
|
NM_000059.4(BRCA2):c.831T>G (p.Asn277Lys)
|
rs28897705
|
0.00006
|
NM_000059.4(BRCA2):c.9454G>A (p.Glu3152Lys)
|
rs80359218
|
0.00006
|
NM_000091.5(COL4A3):c.513C>T (p.Gly171=)
|
rs199514043
|
0.00006
|
NM_000138.5(FBN1):c.3464-6C>T
|
rs375596551
|
0.00006
|
NM_000138.5(FBN1):c.8311G>A (p.Val2771Ile)
|
rs193922244
|
0.00006
|
NM_000179.3(MSH6):c.1050C>T (p.Ala350=)
|
rs730881802
|
0.00006
|
NM_000179.3(MSH6):c.3283C>T (p.Arg1095Cys)
|
rs376243329
|
0.00006
|
NM_000179.3(MSH6):c.926C>G (p.Ser309Cys)
|
rs544222338
|
0.00006
|
NM_000238.4(KCNH2):c.3112G>A (p.Val1038Met)
|
rs199473544
|
0.00006
|
NM_000251.3(MSH2):c.2400A>G (p.Leu800=)
|
rs201298777
|
0.00006
|
NM_000251.3(MSH2):c.382C>G (p.Leu128Val)
|
rs145649774
|
0.00006
|
NM_000251.3(MSH2):c.944G>T (p.Gly315Val)
|
rs202026056
|
0.00006
|
NM_000256.3(MYBPC3):c.2761C>G (p.Gln921Glu)
|
rs367729718
|
0.00006
|
NM_000256.3(MYBPC3):c.94G>A (p.Glu32Lys)
|
rs730880575
|
0.00006
|
NM_000335.5(SCN5A):c.1734C>T (p.Pro578=)
|
rs200868190
|
0.00006
|
NM_000335.5(SCN5A):c.3068G>A (p.Arg1023His)
|
rs199473592
|
0.00006
|
NM_000359.3(TGM1):c.550C>T (p.Pro184Ser)
|
rs200517023
|
0.00006
|
NM_000426.4(LAMA2):c.4157A>T (p.Tyr1386Phe)
|
rs560139751
|
0.00006
|
NM_000455.5(STK11):c.992G>A (p.Arg331Gln)
|
rs371264852
|
0.00006
|
NM_000458.4(HNF1B):c.1339+17G>A
|
rs374854968
|
0.00006
|
NM_000465.4(BARD1):c.1586G>A (p.Arg529Gln)
|
rs753479021
|
0.00006
|
NM_000465.4(BARD1):c.1973G>A (p.Arg658His)
|
rs377227840
|
0.00006
|
NM_000492.4(CFTR):c.2769C>T (p.Ala923=)
|
rs1800108
|
0.00006
|
NM_000492.4(CFTR):c.3429G>A (p.Leu1143=)
|
rs375845215
|
0.00006
|
NM_000492.4(CFTR):c.3964-16T>C
|
rs199672530
|
0.00006
|
NM_000492.4(CFTR):c.4296C>T (p.Asn1432=)
|
rs761669740
|
0.00006
|
NM_000492.4(CFTR):c.663G>A (p.Ala221=)
|
rs758147990
|
0.00006
|
NM_000535.7(PMS2):c.1145-10G>A
|
rs533551639
|
0.00006
|
NM_001005242.3(PKP2):c.1093A>G (p.Met365Val)
|
rs143900944
|
0.00006
|
NM_001035.3(RYR2):c.1511G>A (p.Arg504His)
|
rs201600087
|
0.00006
|
NM_001048174.2(MUTYH):c.729C>T (p.Asp243=)
|
rs730881838
|
0.00006
|
NM_001105206.3(LAMA4):c.5393T>C (p.Ile1798Thr)
|
rs377204776
|
0.00006
|
NM_001127222.2(CACNA1A):c.2501A>C (p.Asn834Thr)
|
rs201666606
|
0.00006
|
NM_001134363.3(RBM20):c.3545G>A (p.Arg1182His)
|
rs563762318
|
0.00006
|
NM_001148.6(ANK2):c.8324A>G (p.His2775Arg)
|
rs534934297
|
0.00006
|
NM_001164508.2(NEB):c.5301G>A (p.Pro1767=)
|
rs150496369
|
0.00006
|
NM_001267550.2(TTN):c.102540T>C (p.Ser34180=)
|
rs368844570
|
0.00006
|
NM_001267550.2(TTN):c.103412G>A (p.Arg34471Gln)
|
rs149391616
|
0.00006
|
NM_001267550.2(TTN):c.27631T>C (p.Leu9211=)
|
rs563954136
|
0.00006
|
NM_001267550.2(TTN):c.49406T>A (p.Leu16469His)
|
rs72677245
|
0.00006
|
NM_001267550.2(TTN):c.57586C>G (p.Leu19196Val)
|
rs397517630
|
0.00006
|
NM_001267550.2(TTN):c.62844T>G (p.Pro20948=)
|
rs770335539
|
0.00006
|
NM_001267550.2(TTN):c.6713C>T (p.Thr2238Met)
|
rs201284459
|
0.00006
|
NM_001267550.2(TTN):c.6950G>A (p.Arg2317His)
|
rs764882950
|
0.00006
|
NM_001267550.2(TTN):c.76922G>A (p.Arg25641His)
|
rs369707906
|
0.00006
|
NM_001267550.2(TTN):c.86700C>T (p.Asn28900=)
|
rs727504793
|
0.00006
|
NM_001267550.2(TTN):c.94016C>T (p.Thr31339Ile)
|
rs184078016
|
0.00006
|
NM_001267550.2(TTN):c.97331G>C (p.Arg32444Pro)
|
rs184922462
|
0.00006
|
NM_001365536.1(SCN9A):c.5945A>T (p.Asp1982Val)
|
rs199822303
|
0.00006
|
NM_001458.5(FLNC):c.5944C>T (p.Arg1982Cys)
|
rs538779271
|
0.00006
|
NM_001943.5(DSG2):c.1643G>A (p.Arg548His)
|
rs551034751
|
0.00006
|
NM_001943.5(DSG2):c.1847C>T (p.Ala616Val)
|
rs375527314
|
0.00006
|
NM_001999.4(FBN2):c.8086G>A (p.Val2696Met)
|
rs373994051
|
0.00006
|
NM_002230.4(JUP):c.1912A>C (p.Asn638His)
|
rs782658008
|
0.00006
|
NM_002230.4(JUP):c.568G>A (p.Val190Met)
|
rs370143312
|
0.00006
|
NM_002471.4(MYH6):c.1702C>T (p.Arg568Cys)
|
rs149650190
|
0.00006
|
NM_002474.3(MYH11):c.1913C>T (p.Ser638Leu)
|
rs771128441
|
0.00006
|
NM_002691.4(POLD1):c.17G>A (p.Arg6Gln)
|
rs778275831
|
0.00006
|
NM_002691.4(POLD1):c.2326C>T (p.Arg776Trp)
|
rs780138978
|
0.00006
|
NM_002709.3(PPP1CB):c.968C>T (p.Pro323Leu)
|
rs202171795
|
0.00006
|
NM_002769.5(PRSS1):c.674A>G (p.Lys225Arg)
|
rs541223359
|
0.00006
|
NM_002834.5(PTPN11):c.132C>T (p.Ser44=)
|
rs397507502
|
0.00006
|
NM_002834.5(PTPN11):c.1682C>T (p.Pro561Leu)
|
rs141140214
|
0.00006
|
NM_002834.5(PTPN11):c.392A>G (p.Lys131Arg)
|
rs397516805
|
0.00006
|
NM_002878.4(RAD51D):c.145-4G>A
|
rs201361465
|
0.00006
|
NM_003664.5(AP3B1):c.3197C>T (p.Ser1066Phe)
|
rs764100439
|
0.00006
|
NM_004004.6(GJB2):c.493C>T (p.Arg165Trp)
|
rs376898963
|
0.00006
|
NM_004360.5(CDH1):c.214G>A (p.Asp72Asn)
|
rs35606263
|
0.00006
|
NM_004655.4(AXIN2):c.623C>T (p.Ala208Val)
|
rs201531372
|
0.00006
|
NM_005633.4(SOS1):c.2225T>C (p.Ile742Thr)
|
rs767494615
|
0.00006
|
NM_005732.4(RAD50):c.1663A>G (p.Ile555Val)
|
rs201120953
|
0.00006
|
NM_005732.4(RAD50):c.2173C>T (p.Arg725Trp)
|
rs369560280
|
0.00006
|
NM_005751.5(AKAP9):c.3350G>A (p.Arg1117His)
|
rs546600149
|
0.00006
|
NM_006231.4(POLE):c.1288G>A (p.Ala430Thr)
|
rs140566004
|
0.00006
|
NM_007194.4(CHEK2):c.542G>A (p.Arg181His)
|
rs121908701
|
0.00006
|
NM_007294.4(BRCA1):c.1243G>A (p.Val415Ile)
|
rs587782770
|
0.00006
|
NM_007294.4(BRCA1):c.1724A>G (p.Glu575Gly)
|
rs111539978
|
0.00006
|
NM_007373.4(SHOC2):c.610A>G (p.Ile204Val)
|
rs200015085
|
0.00006
|
NM_014000.3(VCL):c.2468G>A (p.Arg823Gln)
|
rs759202535
|
0.00006
|
NM_014251.3(SLC25A13):c.790G>A (p.Val264Ile)
|
rs531991442
|
0.00006
|
NM_016203.4(PRKAG2):c.182G>A (p.Arg61Gln)
|
rs564358410
|
0.00006
|
NM_024675.4(PALB2):c.1001A>G (p.Tyr334Cys)
|
rs200620434
|
0.00006
|
NM_030662.4(MAP2K2):c.1112G>A (p.Arg371Gln)
|
rs730880514
|
0.00006
|
NM_032043.3(BRIP1):c.689C>T (p.Ser230Leu)
|
rs759031349
|
0.00006
|
NM_033118.4(MYLK2):c.1204G>T (p.Val402Phe)
|
rs779637525
|
0.00006
|
NM_033118.4(MYLK2):c.425G>T (p.Gly142Val)
|
rs56385445
|
0.00006
|
NM_053025.4(MYLK):c.1954C>G (p.Pro652Ala)
|
rs750686734
|
0.00006
|
NM_144670.6(A2ML1):c.418C>T (p.Arg140Cys)
|
rs199919065
|
0.00006
|
NM_144670.6(A2ML1):c.973G>A (p.Val325Met)
|
rs749156731
|
0.00006
|
NM_175914.5(HNF4A):c.353G>A (p.Arg118Gln)
|
rs764196059
|
0.00006
|
NM_175914.5(HNF4A):c.381G>A (p.Leu127=)
|
rs193922473
|
0.00006
|
NM_201596.3(CACNB2):c.1206+3A>T
|
rs200174877
|
0.00006
|
NM_000033.4(ABCD1):c.55G>T (p.Ala19Ser)
|
rs965462099
|
0.00005
|
NM_000038.6(APC):c.3625G>A (p.Glu1209Lys)
|
rs201185479
|
0.00005
|
NM_000038.6(APC):c.7986G>A (p.Glu2662=)
|
rs571645304
|
0.00005
|
NM_000051.4(ATM):c.4109+6T>C
|
rs368606937
|
0.00005
|
NM_000051.4(ATM):c.4665C>T (p.Leu1555=)
|
rs374431061
|
0.00005
|
NM_000059.4(BRCA2):c.796T>C (p.Phe266Leu)
|
rs587782433
|
0.00005
|
NM_000059.4(BRCA2):c.8092G>A (p.Ala2698Thr)
|
rs80359052
|
0.00005
|
NM_000093.5(COL5A1):c.5293C>T (p.Arg1765Cys)
|
rs199703883
|
0.00005
|
NM_000138.5(FBN1):c.2927G>A (p.Arg976His)
|
rs140954477
|
0.00005
|
NM_000138.5(FBN1):c.7964C>T (p.Ala2655Val)
|
rs202240409
|
0.00005
|
NM_000138.5(FBN1):c.8149G>A (p.Glu2717Lys)
|
rs187553035
|
0.00005
|
NM_000152.5(GAA):c.510C>T (p.Asp170=)
|
rs564758226
|
0.00005
|
NM_000179.3(MSH6):c.2173A>G (p.Ile725Val)
|
rs148898662
|
0.00005
|
NM_000179.3(MSH6):c.3762A>T (p.Glu1254Asp)
|
rs375459388
|
0.00005
|
NM_000276.4(OCRL):c.2245G>T (p.Ala749Ser)
|
rs751678290
|
0.00005
|
NM_000335.5(SCN5A):c.1735G>A (p.Gly579Arg)
|
rs199473128
|
0.00005
|
NM_000388.4(CASR):c.779A>G (p.Gln260Arg)
|
rs200386687
|
0.00005
|
NM_000393.5(COL5A2):c.4471G>A (p.Val1491Ile)
|
rs200703515
|
0.00005
|
NM_000465.4(BARD1):c.1353A>T (p.Gly451=)
|
rs369564500
|
0.00005
|
NM_000465.4(BARD1):c.1568T>C (p.Val523Ala)
|
rs587780017
|
0.00005
|
NM_000518.4(HBB):c.220G>A (p.Asp74Asn)
|
rs33945705
|
0.00005
|
NM_000540.3(RYR1):c.4113G>C (p.Arg1371Ser)
|
rs551509462
|
0.00005
|
NM_000548.5(TSC2):c.4225C>T (p.Arg1409Trp)
|
rs45517333
|
0.00005
|
NM_000891.3(KCNJ2):c.208G>T (p.Ala70Ser)
|
rs375605948
|
0.00005
|
NM_001005242.3(PKP2):c.1372A>G (p.Ile458Val)
|
rs199571473
|
0.00005
|
NM_001267550.2(TTN):c.23616C>T (p.Asn7872=)
|
rs181206334
|
0.00005
|
NM_001267550.2(TTN):c.24114C>T (p.Asn8038=)
|
rs199576800
|
0.00005
|
NM_001267550.2(TTN):c.56871C>T (p.Ser18957=)
|
rs370619063
|
0.00005
|
NM_001291415.2(KDM6A):c.2018G>A (p.Arg673His)
|
rs369284316
|
0.00005
|
NM_001943.5(DSG2):c.862G>A (p.Val288Ile)
|
rs780374242
|
0.00005
|
NM_001999.4(FBN2):c.4328A>T (p.Asp1443Val)
|
rs751400994
|
0.00005
|
NM_002230.4(JUP):c.560C>T (p.Ala187Val)
|
rs782370709
|
0.00005
|
NM_002471.4(MYH6):c.5642A>G (p.Lys1881Arg)
|
rs750886219
|
0.00005
|
NM_002474.3(MYH11):c.5869G>C (p.Glu1957Gln)
|
rs768140376
|
0.00005
|
NM_003673.4(TCAP):c.113G>T (p.Cys38Phe)
|
rs375310569
|
0.00005
|
NM_004415.4(DSP):c.5555G>A (p.Arg1852His)
|
rs193922669
|
0.00005
|
NM_005188.4(CBL):c.1528C>G (p.Pro510Ala)
|
rs538054260
|
0.00005
|
NM_005359.6(SMAD4):c.947A>G (p.Asn316Ser)
|
rs377119288
|
0.00005
|
NM_006231.4(POLE):c.6668A>G (p.Lys2223Arg)
|
rs367970442
|
0.00005
|
NM_006231.4(POLE):c.844C>T (p.Pro282Ser)
|
rs138207610
|
0.00005
|
NM_007078.3(LDB3):c.793C>T (p.Arg265Cys)
|
rs45521338
|
0.00005
|
NM_007294.4(BRCA1):c.1974G>C (p.Met658Ile)
|
rs55678461
|
0.00005
|
NM_017617.5(NOTCH1):c.6205G>A (p.Ala2069Thr)
|
rs567909904
|
0.00005
|
NM_024422.6(DSC2):c.835C>T (p.Arg279Cys)
|
rs193922708
|
0.00005
|
NM_053025.4(MYLK):c.4292C>T (p.Pro1431Leu)
|
rs746690413
|
0.00005
|
NM_144670.6(A2ML1):c.2984C>T (p.Thr995Met)
|
rs755702632
|
0.00005
|
NM_144997.7(FLCN):c.1387T>C (p.Tyr463His)
|
rs770077517
|
0.00005
|
NM_175914.5(HNF4A):c.*4G>A
|
rs193922468
|
0.00005
|
NM_175914.5(HNF4A):c.241G>A (p.Val81Met)
|
rs772786482
|
0.00005
|
NM_000038.6(APC):c.7786T>G (p.Ser2596Ala)
|
rs138137162
|
0.00004
|
NM_000051.4(ATM):c.1888G>A (p.Val630Met)
|
rs148191382
|
0.00004
|
NM_000051.4(ATM):c.2040C>T (p.Phe680=)
|
rs587780855
|
0.00004
|
NM_000051.4(ATM):c.3154-5C>T
|
rs55719759
|
0.00004
|
NM_000051.4(ATM):c.4606A>G (p.Lys1536Glu)
|
rs587779841
|
0.00004
|
NM_000051.4(ATM):c.7592T>C (p.Met2531Thr)
|
rs587781365
|
0.00004
|
NM_000051.4(ATM):c.8968G>A (p.Glu2990Lys)
|
rs1800558
|
0.00004
|
NM_000052.7(ATP7A):c.1156A>G (p.Met386Val)
|
rs369419911
|
0.00004
|
NM_000059.4(BRCA2):c.280C>T (p.Pro94Ser)
|
rs80358531
|
0.00004
|
NM_000059.4(BRCA2):c.2987T>G (p.Leu996Arg)
|
rs80358545
|
0.00004
|
NM_000059.4(BRCA2):c.3840T>C (p.Asp1280=)
|
rs786201327
|
0.00004
|
NM_000059.4(BRCA2):c.4094G>A (p.Cys1365Tyr)
|
rs80358657
|
0.00004
|
NM_000059.4(BRCA2):c.5752C>T (p.His1918Tyr)
|
rs80358803
|
0.00004
|
NM_000059.4(BRCA2):c.5969A>C (p.Asp1990Ala)
|
rs148618542
|
0.00004
|
NM_000059.4(BRCA2):c.623T>G (p.Val208Gly)
|
rs80358865
|
0.00004
|
NM_000059.4(BRCA2):c.62A>G (p.Lys21Arg)
|
rs397507367
|
0.00004
|
NM_000059.4(BRCA2):c.6739A>G (p.Ser2247Gly)
|
rs80358896
|
0.00004
|
NM_000059.4(BRCA2):c.7522G>A (p.Gly2508Ser)
|
rs80358978
|
0.00004
|
NM_000059.4(BRCA2):c.8036A>G (p.Asp2679Gly)
|
rs80359041
|
0.00004
|
NM_000059.4(BRCA2):c.8420C>T (p.Ser2807Leu)
|
rs55763607
|
0.00004
|
NM_000059.4(BRCA2):c.8755-19A>G
|
rs398122713
|
0.00004
|
NM_000059.4(BRCA2):c.887A>G (p.Tyr296Cys)
|
rs45457795
|
0.00004
|
NM_000059.4(BRCA2):c.8918G>A (p.Arg2973His)
|
rs80359143
|
0.00004
|
NM_000059.4(BRCA2):c.9586A>G (p.Lys3196Glu)
|
rs80359228
|
0.00004
|
NM_000077.5(CDKN2A):c.197A>G (p.His66Arg)
|
rs756750256
|
0.00004
|
NM_000089.4(COL1A2):c.1148C>A (p.Pro383His)
|
rs193922159
|
0.00004
|
NM_000093.5(COL5A1):c.1292G>A (p.Gly431Glu)
|
rs370311038
|
0.00004
|
NM_000138.5(FBN1):c.4095C>T (p.Asp1365=)
|
rs375402043
|
0.00004
|
NM_000138.5(FBN1):c.6052G>A (p.Val2018Ile)
|
rs363802
|
0.00004
|
NM_000179.3(MSH6):c.107C>T (p.Ala36Val)
|
rs61756469
|
0.00004
|
NM_000179.3(MSH6):c.1974G>A (p.Val658=)
|
rs372916347
|
0.00004
|
NM_000179.3(MSH6):c.2408A>G (p.Asp803Gly)
|
rs63751450
|
0.00004
|
NM_000179.3(MSH6):c.2418C>T (p.Ser806=)
|
rs770992427
|
0.00004
|
NM_000179.3(MSH6):c.3801+5G>A
|
rs201080919
|
0.00004
|
NM_000179.3(MSH6):c.4004A>C (p.Glu1335Ala)
|
rs564434147
|
0.00004
|
NM_000249.4(MLH1):c.2252A>G (p.Lys751Arg)
|
rs140195825
|
0.00004
|
NM_000249.4(MLH1):c.794G>A (p.Arg265His)
|
rs63751448
|
0.00004
|
NM_000251.3(MSH2):c.1121A>G (p.Gln374Arg)
|
rs749660228
|
0.00004
|
NM_000251.3(MSH2):c.2211-6C>A
|
rs267608003
|
0.00004
|
NM_000264.5(PTCH1):c.4141G>A (p.Val1381Met)
|
rs187104739
|
0.00004
|
NM_000314.8(PTEN):c.*10T>A
|
rs769236743
|
0.00004
|
NM_000335.5(SCN5A):c.103G>A (p.Gly35Ser)
|
rs199473552
|
0.00004
|
NM_000335.5(SCN5A):c.1914C>T (p.Gly638=)
|
rs764488677
|
0.00004
|
NM_000441.2(SLC26A4):c.147C>G (p.Ser49Arg)
|
rs756969021
|
0.00004
|
NM_000455.5(STK11):c.1045G>A (p.Glu349Lys)
|
rs553752236
|
0.00004
|
NM_000492.4(CFTR):c.1679+9C>G
|
rs775440240
|
0.00004
|
NM_000518.5(HBB):c.85C>T (p.Leu29=)
|
rs33958088
|
0.00004
|
NM_000535.7(PMS2):c.2049C>T (p.Asn683=)
|
rs752950007
|
0.00004
|
NM_000535.7(PMS2):c.2356C>A (p.Leu786Met)
|
rs576055272
|
0.00004
|
NM_000540.3(RYR1):c.9859C>T (p.Arg3287Cys)
|
rs201276068
|
0.00004
|
NM_000546.6(TP53):c.469G>A (p.Val157Ile)
|
rs121912654
|
0.00004
|
NM_000548.5(TSC2):c.2887G>A (p.Val963Met)
|
rs45517275
|
0.00004
|
NM_000719.7(CACNA1C):c.5737G>A (p.Asp1913Asn)
|
rs181502604
|
0.00004
|
NM_001005242.3(PKP2):c.2018C>T (p.Pro673Leu)
|
rs144018320
|
0.00004
|
NM_001005242.3(PKP2):c.2233A>G (p.Ile745Val)
|
rs551045165
|
0.00004
|
NM_001005242.3(PKP2):c.789G>A (p.Thr263=)
|
rs760432217
|
0.00004
|
NM_001035.3(RYR2):c.14875C>T (p.Arg4959Trp)
|
rs755308070
|
0.00004
|
NM_001035.3(RYR2):c.4692G>A (p.Met1564Ile)
|
rs201675951
|
0.00004
|
NM_001035.3(RYR2):c.5923A>G (p.Met1975Val)
|
rs200318013
|
0.00004
|
NM_001042492.3(NF1):c.6664A>G (p.Thr2222Ala)
|
rs745945481
|
0.00004
|
NM_001048174.2(MUTYH):c.1463C>T (p.Pro488Leu)
|
rs587778542
|
0.00004
|
NM_001048174.2(MUTYH):c.325C>T (p.Leu109=)
|
rs368963039
|
0.00004
|
NM_001048174.2(MUTYH):c.87C>T (p.Asn29=)
|
rs141679570
|
0.00004
|
NM_001103.4(ACTN2):c.2552G>A (p.Arg851His)
|
rs201335965
|
0.00004
|
NM_001103.4(ACTN2):c.2602G>A (p.Ala868Thr)
|
rs143150260
|
0.00004
|
NM_001110792.2(MECP2):c.877G>A (p.Ala293Thr)
|
rs782239416
|
0.00004
|
NM_001128178.3(NPHP1):c.1861G>C (p.Glu621Gln)
|
rs780427871
|
0.00004
|
NM_001148.6(ANK2):c.5758G>A (p.Gly1920Arg)
|
rs140189724
|
0.00004
|
NM_001267550.2(TTN):c.24454G>A (p.Val8152Ile)
|
rs397517507
|
0.00004
|
NM_001267550.2(TTN):c.35268G>A (p.Pro11756=)
|
rs778338717
|
0.00004
|
NM_001267550.2(TTN):c.5255G>A (p.Arg1752His)
|
rs150737838
|
0.00004
|
NM_001267550.2(TTN):c.58426G>A (p.Val19476Ile)
|
rs397517636
|
0.00004
|
NM_001267550.2(TTN):c.61276C>T (p.Leu20426Phe)
|
rs377529060
|
0.00004
|
NM_001267550.2(TTN):c.73517G>A (p.Gly24506Asp)
|
rs567446185
|
0.00004
|
NM_001267550.2(TTN):c.83580G>A (p.Val27860=)
|
rs200096597
|
0.00004
|
NM_001267550.2(TTN):c.83733C>T (p.Ser27911=)
|
rs375442124
|
0.00004
|
NM_001267550.2(TTN):c.87495C>T (p.Asp29165=)
|
rs371763584
|
0.00004
|
NM_001267550.2(TTN):c.8937C>T (p.Asn2979=)
|
rs368525666
|
0.00004
|
NM_001267550.2(TTN):c.91749C>T (p.Ser30583=)
|
rs886044458
|
0.00004
|
NM_001278116.2(L1CAM):c.367G>A (p.Ala123Thr)
|
rs782752037
|
0.00004
|
NM_001458.5(FLNC):c.4055G>A (p.Arg1352His)
|
rs746731567
|
0.00004
|
NM_001943.5(DSG2):c.1688T>G (p.Leu563Arg)
|
rs780469370
|
0.00004
|
NM_001943.5(DSG2):c.2328C>A (p.Phe776Leu)
|
rs771104668
|
0.00004
|
NM_001943.5(DSG2):c.2959G>T (p.Val987Phe)
|
rs141405267
|
0.00004
|
NM_001999.4(FBN2):c.377G>A (p.Arg126His)
|
rs528614556
|
0.00004
|
NM_002230.4(JUP):c.1035G>C (p.Lys345Asn)
|
rs150194093
|
0.00004
|
NM_002474.3(MYH11):c.4072G>T (p.Ala1358Ser)
|
rs763280025
|
0.00004
|
NM_002485.5(NBN):c.1089C>T (p.Tyr363=)
|
rs121908974
|
0.00004
|
NM_002485.5(NBN):c.278C>T (p.Ser93Leu)
|
rs12721593
|
0.00004
|
NM_002691.4(POLD1):c.2250+4G>A
|
rs370478977
|
0.00004
|
NM_002691.4(POLD1):c.2429C>T (p.Ala810Val)
|
rs765981178
|
0.00004
|
NM_002878.4(RAD51D):c.796C>T (p.Arg266Cys)
|
rs587781813
|
0.00004
|
NM_002880.4(RAF1):c.1913C>T (p.Thr638Met)
|
rs730881007
|
0.00004
|
NM_003242.6(TGFBR2):c.1015C>T (p.Arg339Trp)
|
rs761991787
|
0.00004
|
NM_004006.3(DMD):c.6118-13T>G
|
rs750033728
|
0.00004
|
NM_004329.3(BMPR1A):c.760C>T (p.Arg254Cys)
|
rs587782578
|
0.00004
|
NM_004360.5(CDH1):c.2020A>T (p.Asn674Tyr)
|
rs201637081
|
0.00004
|
NM_004360.5(CDH1):c.2387G>A (p.Arg796Gln)
|
rs587782549
|
0.00004
|
NM_005188.4(CBL):c.1477C>T (p.Leu493Phe)
|
rs730880434
|
0.00004
|
NM_005633.4(SOS1):c.1490G>A (p.Arg497Gln)
|
rs371314838
|
0.00004
|
NM_006393.3(NEBL):c.625G>A (p.Ala209Thr)
|
rs142138590
|
0.00004
|
NM_006516.4(SLC2A1):c.1034C>T (p.Ala345Val)
|
rs769943554
|
0.00004
|
NM_006767.4(LZTR1):c.23G>C (p.Gly8Ala)
|
rs764439278
|
0.00004
|
NM_006939.4(SOS2):c.3076C>T (p.Pro1026Ser)
|
rs201874067
|
0.00004
|
NM_006939.4(SOS2):c.532C>G (p.Gln178Glu)
|
rs770603835
|
0.00004
|
NM_007194.4(CHEK2):c.15G>A (p.Ser5=)
|
rs145183886
|
0.00004
|
NM_007294.4(BRCA1):c.2473G>T (p.Asp825Tyr)
|
rs80357328
|
0.00004
|
NM_007294.4(BRCA1):c.3454G>A (p.Asp1152Asn)
|
rs80357175
|
0.00004
|
NM_007294.4(BRCA1):c.3842A>C (p.Gln1281Pro)
|
rs80357483
|
0.00004
|
NM_007294.4(BRCA1):c.425C>A (p.Pro142His)
|
rs55971303
|
0.00004
|
NM_007294.4(BRCA1):c.4261C>T (p.His1421Tyr)
|
rs80357013
|
0.00004
|
NM_007294.4(BRCA1):c.427G>A (p.Glu143Lys)
|
rs80356991
|
0.00004
|
NM_007294.4(BRCA1):c.446A>C (p.Glu149Ala)
|
rs397507233
|
0.00004
|
NM_007294.4(BRCA1):c.4669G>C (p.Asp1557His)
|
rs80356906
|
0.00004
|
NM_007294.4(BRCA1):c.4735C>G (p.Pro1579Ala)
|
rs145466894
|
0.00004
|
NM_007294.4(BRCA1):c.661G>T (p.Ala221Ser)
|
rs80357088
|
0.00004
|
NM_014476.6(PDLIM3):c.11C>T (p.Thr4Met)
|
rs781358846
|
0.00004
|
NM_021098.3(CACNA1H):c.1430G>A (p.Arg477His)
|
rs1325999341
|
0.00004
|
NM_024675.4(PALB2):c.1699C>T (p.His567Tyr)
|
rs370422990
|
0.00004
|
NM_024675.4(PALB2):c.194C>T (p.Pro65Leu)
|
rs62625272
|
0.00004
|
NM_030662.4(MAP2K2):c.1187C>T (p.Thr396Met)
|
rs117945277
|
0.00004
|
NM_030662.4(MAP2K2):c.274A>G (p.Arg92Gly)
|
rs759061964
|
0.00004
|
NM_030662.4(MAP2K2):c.648C>T (p.Ser216=)
|
rs147276536
|
0.00004
|
NM_030662.4(MAP2K2):c.93-6C>T
|
rs727504836
|
0.00004
|
NM_033118.4(MYLK2):c.557C>T (p.Thr186Met)
|
rs727504591
|
0.00004
|
NM_033337.3(CAV3):c.384C>T (p.Phe128=)
|
rs773934743
|
0.00004
|
NM_053025.4(MYLK):c.2936C>T (p.Pro979Leu)
|
rs368229473
|
0.00004
|
NM_139076.3(ABRAXAS1):c.1091A>G (p.Asp364Gly)
|
rs142910445
|
0.00004
|
NM_144670.6(A2ML1):c.2260G>A (p.Val754Ile)
|
rs769726608
|
0.00004
|
NM_144670.6(A2ML1):c.2486C>T (p.Ser829Leu)
|
rs758305694
|
0.00004
|
NM_144670.6(A2ML1):c.3154A>G (p.Ile1052Val)
|
rs753161669
|
0.00004
|
NM_144670.6(A2ML1):c.3935C>T (p.Thr1312Met)
|
rs201083574
|
0.00004
|
NM_170707.4(LMNA):c.726G>A (p.Ala242=)
|
rs763625309
|
0.00004
|
NM_206933.4(USH2A):c.997T>C (p.Ser333Pro)
|
rs368986242
|
0.00004
|
NM_000038.6(APC):c.1405C>T (p.Leu469=)
|
rs746293695
|
0.00003
|
NM_000038.6(APC):c.5506G>A (p.Gly1836Arg)
|
rs766739164
|
0.00003
|
NM_000038.6(APC):c.5912C>G (p.Ser1971Cys)
|
rs754691867
|
0.00003
|
NM_000038.6(APC):c.7415C>T (p.Ala2472Val)
|
rs200399245
|
0.00003
|
NM_000051.4(ATM):c.1905C>T (p.His635=)
|
rs1020808836
|
0.00003
|
NM_000051.4(ATM):c.3242A>G (p.Asn1081Ser)
|
rs368111672
|
0.00003
|
NM_000051.4(ATM):c.6234C>T (p.Ser2078=)
|
rs569483748
|
0.00003
|
NM_000051.4(ATM):c.6465G>A (p.Val2155=)
|
rs140423883
|
0.00003
|
NM_000051.4(ATM):c.8246A>T (p.Lys2749Ile)
|
rs779145081
|
0.00003
|
NM_000059.4(BRCA2):c.1564G>C (p.Gly522Arg)
|
rs80358442
|
0.00003
|
NM_000059.4(BRCA2):c.1631C>T (p.Thr544Ile)
|
rs80358448
|
0.00003
|
NM_000059.4(BRCA2):c.3225T>C (p.Ser1075=)
|
rs779228375
|
0.00003
|
NM_000059.4(BRCA2):c.3254A>G (p.His1085Arg)
|
rs80358570
|
0.00003
|
NM_000059.4(BRCA2):c.4301A>T (p.Lys1434Ile)
|
rs397507714
|
0.00003
|
NM_000059.4(BRCA2):c.5495C>A (p.Ser1832Tyr)
|
rs138489917
|
0.00003
|
NM_000059.4(BRCA2):c.5634C>G (p.Asn1878Lys)
|
rs80358784
|
0.00003
|
NM_000059.4(BRCA2):c.5986G>A (p.Ala1996Thr)
|
rs80358833
|
0.00003
|
NM_000059.4(BRCA2):c.9190G>A (p.Asp3064Asn)
|
rs80359177
|
0.00003
|
NM_000059.4(BRCA2):c.9253A>C (p.Thr3085Pro)
|
rs397507423
|
0.00003
|
NM_000090.4(COL3A1):c.2550T>C (p.Pro850=)
|
rs794727586
|
0.00003
|
NM_000138.5(FBN1):c.1277C>T (p.Pro426Leu)
|
rs146044644
|
0.00003
|
NM_000138.5(FBN1):c.1668G>A (p.Val556=)
|
rs761662654
|
0.00003
|
NM_000138.5(FBN1):c.3216C>T (p.Asp1072=)
|
rs757177349
|
0.00003
|
NM_000179.3(MSH6):c.1696G>A (p.Gly566Arg)
|
rs63749973
|
0.00003
|
NM_000237.3(LPL):c.112G>A (p.Glu38Lys)
|
rs557015233
|
0.00003
|
NM_000251.3(MSH2):c.1847C>G (p.Pro616Arg)
|
rs587779965
|
0.00003
|
NM_000264.5(PTCH1):c.1420G>A (p.Val474Ile)
|
rs766898310
|
0.00003
|
NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln)
|
rs375709098
|
0.00003
|
NM_000335.5(SCN5A):c.3206C>T (p.Thr1069Met)
|
rs199473187
|
0.00003
|
NM_000455.5(STK11):c.566C>T (p.Thr189Ile)
|
rs587781515
|
0.00003
|
NM_000492.4(CFTR):c.1047G>A (p.Ala349=)
|
rs200520623
|
0.00003
|
NM_000492.4(CFTR):c.2736G>A (p.Ser912=)
|
rs200901072
|
0.00003
|
NM_000527.5(LDLR):c.82G>A (p.Glu28Lys)
|
rs551747280
|
0.00003
|
NM_000535.7(PMS2):c.883C>T (p.Arg295Trp)
|
rs182246929
|
0.00003
|
NM_000540.3(RYR1):c.14601C>T (p.Ser4867=)
|
rs370469515
|
0.00003
|
NM_000540.3(RYR1):c.614G>C (p.Cys205Ser)
|
rs201834803
|
0.00003
|
NM_000548.5(TSC2):c.1915C>T (p.Arg639Trp)
|
rs766451267
|
0.00003
|
NM_000552.5(VWF):c.2025G>A (p.Pro675=)
|
rs779045480
|
0.00003
|
NM_000719.7(CACNA1C):c.5098G>A (p.Gly1700Ser)
|
rs761966966
|
0.00003
|
NM_001035.3(RYR2):c.12540C>T (p.Gly4180=)
|
rs772125105
|
0.00003
|
NM_001048174.2(MUTYH):c.1472G>A (p.Arg491Gln)
|
rs369410616
|
0.00003
|
NM_001103.4(ACTN2):c.2551C>T (p.Arg851Cys)
|
rs141563497
|
0.00003
|
NM_001110792.2(MECP2):c.968C>T (p.Thr323Met)
|
rs61751445
|
0.00003
|
NM_001134363.3(RBM20):c.2905G>A (p.Val969Ile)
|
rs369747752
|
0.00003
|
NM_001134363.3(RBM20):c.541G>A (p.Gly181Arg)
|
rs543478618
|
0.00003
|
NM_001267550.2(TTN):c.33966G>A (p.Pro11322=)
|
rs373083865
|
0.00003
|
NM_001267550.2(TTN):c.96921T>C (p.Asp32307=)
|
rs771385738
|
0.00003
|
NM_001360.3(DHCR7):c.375C>T (p.Tyr125=)
|
rs779401555
|
0.00003
|
NM_001386795.1(DTNA):c.1838C>T (p.Pro613Leu)
|
rs145425478
|
0.00003
|
NM_002230.4(JUP):c.509C>T (p.Ser170Leu)
|
rs782284038
|
0.00003
|
NM_002474.3(MYH11):c.3104T>C (p.Met1035Thr)
|
rs557463209
|
0.00003
|
NM_002485.5(NBN):c.207A>G (p.Lys69=)
|
rs754352569
|
0.00003
|
NM_002524.5(NRAS):c.553C>T (p.Pro185Ser)
|
rs374061873
|
0.00003
|
NM_002734.5(PRKAR1A):c.19G>A (p.Ala7Thr)
|
rs369210646
|
0.00003
|
NM_002834.5(PTPN11):c.556C>T (p.Arg186Trp)
|
rs143433437
|
0.00003
|
NM_004360.5(CDH1):c.1417G>A (p.Val473Ile)
|
rs36087757
|
0.00003
|
NM_004360.5(CDH1):c.184G>A (p.Gly62Ser)
|
rs587781898
|
0.00003
|
NM_004380.3(CREBBP):c.6516C>T (p.Asn2172=)
|
rs763852812
|
0.00003
|
NM_004415.4(DSP):c.4741A>G (p.Lys1581Glu)
|
rs186842903
|
0.00003
|
NM_005359.6(SMAD4):c.20C>T (p.Thr7Met)
|
rs372316981
|
0.00003
|
NM_006231.4(POLE):c.5313G>A (p.Thr1771=)
|
rs201803493
|
0.00003
|
NM_007194.4(CHEK2):c.1133C>T (p.Thr378Ile)
|
rs587780167
|
0.00003
|
NM_007294.4(BRCA1):c.2123C>A (p.Ser708Tyr)
|
rs80357182
|
0.00003
|
NM_007294.4(BRCA1):c.2447A>G (p.His816Arg)
|
rs80357108
|
0.00003
|
NM_007294.4(BRCA1):c.2726A>T (p.Asn909Ile)
|
rs80357127
|
0.00003
|
NM_007294.4(BRCA1):c.5075-6C>A
|
rs397507240
|
0.00003
|
NM_007294.4(BRCA1):c.5189A>G (p.Asn1730Ser)
|
rs80357171
|
0.00003
|
NM_007294.4(BRCA1):c.594-2A>C
|
rs80358033
|
0.00003
|
NM_007294.4(BRCA1):c.612G>C (p.Leu204Phe)
|
rs80357394
|
0.00003
|
NM_007294.4(BRCA1):c.641A>G (p.Asp214Gly)
|
rs55680408
|
0.00003
|
NM_007373.4(SHOC2):c.170C>T (p.Ser57Phe)
|
rs536611911
|
0.00003
|
NM_024334.3(TMEM43):c.1112A>G (p.Tyr371Cys)
|
rs752269639
|
0.00003
|
NM_024422.6(DSC2):c.2624G>A (p.Arg875Gln)
|
rs535014010
|
0.00003
|
NM_024422.6(DSC2):c.802A>G (p.Thr268Ala)
|
rs201015785
|
0.00003
|
NM_024675.4(PALB2):c.94C>G (p.Leu32Val)
|
rs151316635
|
0.00003
|
NM_032043.3(BRIP1):c.2830C>G (p.Gln944Glu)
|
rs140233356
|
0.00003
|
NM_053025.4(MYLK):c.344G>A (p.Arg115His)
|
rs141131535
|
0.00003
|
NM_144573.4(NEXN):c.634T>A (p.Tyr212Asn)
|
rs769549962
|
0.00003
|
NM_181486.4(TBX5):c.16G>A (p.Glu6Lys)
|
rs145365553
|
0.00003
|
NM_000038.6(APC):c.8199A>G (p.Gln2733=)
|
rs372365378
|
0.00002
|
NM_000038.6(APC):c.835-3T>C
|
rs372090940
|
0.00002
|
NM_000051.4(ATM):c.2085G>A (p.Leu695=)
|
rs786202229
|
0.00002
|
NM_000051.4(ATM):c.3963G>A (p.Met1321Ile)
|
rs35184530
|
0.00002
|
NM_000059.4(BRCA2):c.10154G>A (p.Arg3385His)
|
rs80358398
|
0.00002
|
NM_000059.4(BRCA2):c.2459A>G (p.Asp820Gly)
|
rs80358511
|
0.00002
|
NM_000059.4(BRCA2):c.2716A>G (p.Thr906Ala)
|
rs80358528
|
0.00002
|
NM_000059.4(BRCA2):c.2944A>C (p.Ile982Leu)
|
rs28897717
|
0.00002
|
NM_000059.4(BRCA2):c.3176T>G (p.Leu1059Arg)
|
rs1064793927
|
0.00002
|
NM_000059.4(BRCA2):c.4779A>C (p.Glu1593Asp)
|
rs80358703
|
0.00002
|
NM_000059.4(BRCA2):c.5737T>C (p.Cys1913Arg)
|
rs80358799
|
0.00002
|
NM_000059.4(BRCA2):c.5896C>T (p.His1966Tyr)
|
rs80358822
|
0.00002
|
NM_000059.4(BRCA2):c.708T>C (p.His236=)
|
rs185506536
|
0.00002
|
NM_000059.4(BRCA2):c.8007A>G (p.Arg2669=)
|
rs143999963
|
0.00002
|
NM_000059.4(BRCA2):c.8360G>A (p.Arg2787His)
|
rs80359078
|
0.00002
|
NM_000059.4(BRCA2):c.8687G>A (p.Arg2896His)
|
rs80359128
|
0.00002
|
NM_000059.4(BRCA2):c.9270C>T (p.Phe3090=)
|
rs587780873
|
0.00002
|
NM_000059.4(BRCA2):c.9728C>T (p.Pro3243Leu)
|
rs80359241
|
0.00002
|
NM_000059.4(BRCA2):c.9838C>T (p.Pro3280Ser)
|
rs55835607
|
0.00002
|
NM_000059.4(BRCA2):c.9986A>G (p.Asn3329Ser)
|
rs76635144
|
0.00002
|
NM_000075.4(CDK4):c.661G>A (p.Asp221Asn)
|
rs587778187
|
0.00002
|
NM_000075.4(CDK4):c.763C>T (p.Arg255Cys)
|
rs587778188
|
0.00002
|
NM_000088.4(COL1A1):c.3680G>A (p.Arg1227His)
|
rs543809032
|
0.00002
|
NM_000093.5(COL5A1):c.5437G>A (p.Val1813Met)
|
rs755914340
|
0.00002
|
NM_000138.5(FBN1):c.6180C>T (p.Tyr2060=)
|
rs974604498
|
0.00002
|
NM_000152.5(GAA):c.1083G>A (p.Pro361=)
|
rs781379047
|
0.00002
|
NM_000152.5(GAA):c.705G>A (p.Thr235=)
|
rs2304846
|
0.00002
|
NM_000179.3(MSH6):c.3244C>T (p.Pro1082Ser)
|
rs186240214
|
0.00002
|
NM_000179.3(MSH6):c.3832C>A (p.Pro1278Thr)
|
rs587782109
|
0.00002
|
NM_000179.3(MSH6):c.3851C>T (p.Thr1284Met)
|
rs63750836
|
0.00002
|
NM_000251.3(MSH2):c.2009C>T (p.Pro670Leu)
|
rs41294982
|
0.00002
|
NM_000251.3(MSH2):c.304G>A (p.Val102Ile)
|
rs193922373
|
0.00002
|
NM_000256.3(MYBPC3):c.1812C>T (p.Asp604=)
|
rs397515929
|
0.00002
|
NM_000258.3(MYL3):c.532G>A (p.Asp178Asn)
|
rs145520567
|
0.00002
|
NM_000335.5(SCN5A):c.2014G>A (p.Ala672Thr)
|
rs199473140
|
0.00002
|
NM_000335.5(SCN5A):c.2141T>C (p.Val714Ala)
|
rs759036311
|
0.00002
|
NM_000393.5(COL5A2):c.2882C>T (p.Pro961Leu)
|
rs778835151
|
0.00002
|
NM_000492.4(CFTR):c.2259C>T (p.Ser753=)
|
rs201888075
|
0.00002
|
NM_000492.4(CFTR):c.3852A>G (p.Lys1284=)
|
rs547248892
|
0.00002
|
NM_000492.4(CFTR):c.627A>G (p.Ala209=)
|
rs397508773
|
0.00002
|
NM_000535.7(PMS2):c.1080A>G (p.Ile360Met)
|
rs567102013
|
0.00002
|
NM_000540.3(RYR1):c.2203C>T (p.His735Tyr)
|
rs771629253
|
0.00002
|
NM_000540.3(RYR1):c.9555-14G>A
|
rs763353979
|
0.00002
|
NM_000545.8(HNF1A):c.1745A>G (p.His582Arg)
|
rs193922589
|
0.00002
|
NM_000719.7(CACNA1C):c.408C>T (p.Ala136=)
|
rs769295096
|
0.00002
|
NM_001034116.2(EIF2B4):c.1400G>A (p.Arg467Gln)
|
rs751555693
|
0.00002
|
NM_001079802.2(FKTN):c.342A>G (p.Ala114=)
|
rs368598407
|
0.00002
|
NM_001110556.2(FLNA):c.1314C>T (p.Gly438=)
|
rs372113435
|
0.00002
|
NM_001127222.2(CACNA1A):c.6464G>T (p.Arg2155Leu)
|
rs572722130
|
0.00002
|
NM_001145809.2(MYH14):c.4259C>T (p.Ala1420Val)
|
rs727503225
|
0.00002
|
NM_001267550.2(TTN):c.21800G>A (p.Gly7267Asp)
|
rs375627540
|
0.00002
|
NM_001267550.2(TTN):c.2301A>G (p.Arg767=)
|
rs746831560
|
0.00002
|
NM_001267550.2(TTN):c.29397C>T (p.Gly9799=)
|
rs770084292
|
0.00002
|
NM_001267550.2(TTN):c.42933T>C (p.Asn14311=)
|
rs148528251
|
0.00002
|
NM_001267550.2(TTN):c.54494G>A (p.Arg18165His)
|
rs574313741
|
0.00002
|
NM_001267550.2(TTN):c.59937G>A (p.Gly19979=)
|
rs727505101
|
0.00002
|
NM_001267550.2(TTN):c.64338T>C (p.Ala21446=)
|
rs371514555
|
0.00002
|
NM_001267550.2(TTN):c.70983G>A (p.Pro23661=)
|
rs568193318
|
0.00002
|
NM_001267550.2(TTN):c.74549A>G (p.Asp24850Gly)
|
rs573415766
|
0.00002
|
NM_001267550.2(TTN):c.7524T>C (p.His2508=)
|
rs2291307
|
0.00002
|
NM_001330.5(CTF1):c.83G>A (p.Arg28His)
|
rs201703547
|
0.00002
|
NM_001999.4(FBN2):c.1734G>C (p.Glu578Asp)
|
rs371046485
|
0.00002
|
NM_002474.3(MYH11):c.1879G>A (p.Gly627Ser)
|
rs563865467
|
0.00002
|
NM_002880.4(RAF1):c.934G>A (p.Val312Met)
|
rs555034652
|
0.00002
|
NM_004006.3(DMD):c.3327T>C (p.Asn1109=)
|
rs775591219
|
0.00002
|
NM_004341.5(CAD):c.1547G>A (p.Arg516Gln)
|
rs772639350
|
0.00002
|
NM_004360.5(CDH1):c.1273G>A (p.Val425Ile)
|
rs570930882
|
0.00002
|
NM_004565.3(PEX14):c.824C>T (p.Ser275Leu)
|
rs727504081
|
0.00002
|
NM_005359.6(SMAD4):c.471G>A (p.Met157Ile)
|
rs780716382
|
0.00002
|
NM_005751.5(AKAP9):c.6046C>T (p.Arg2016Cys)
|
rs376950905
|
0.00002
|
NM_006231.4(POLE):c.3698G>A (p.Arg1233Gln)
|
rs201738371
|
0.00002
|
NM_006767.4(LZTR1):c.2265G>T (p.Arg755=)
|
rs370009707
|
0.00002
|
NM_007194.4(CHEK2):c.755G>A (p.Ser252Asn)
|
rs587781379
|
0.00002
|
NM_007294.4(BRCA1):c.19C>T (p.Arg7Cys)
|
rs80356994
|
0.00002
|
NM_007294.4(BRCA1):c.3012G>A (p.Glu1004=)
|
rs786201784
|
0.00002
|
NM_007294.4(BRCA1):c.3636A>G (p.Ser1212=)
|
rs148038877
|
0.00002
|
NM_007294.4(BRCA1):c.5068A>C (p.Lys1690Gln)
|
rs397507239
|
0.00002
|
NM_007294.4(BRCA1):c.509G>A (p.Arg170Gln)
|
rs80357264
|
0.00002
|
NM_007294.4(BRCA1):c.522A>G (p.Gln174=)
|
rs765432756
|
0.00002
|
NM_015141.4(GPD1L):c.691C>T (p.Arg231Cys)
|
rs143486835
|
0.00002
|
NM_017882.3(CLN6):c.49G>A (p.Gly17Ser)
|
rs763944821
|
0.00002
|
NM_022436.3(ABCG5):c.282G>A (p.Thr94=)
|
rs756339433
|
0.00002
|
NM_024334.3(TMEM43):c.323T>C (p.Val108Ala)
|
rs182351748
|
0.00002
|
NM_024334.3(TMEM43):c.747C>T (p.Ser249=)
|
rs549809535
|
0.00002
|
NM_024675.4(PALB2):c.149A>C (p.Lys50Thr)
|
rs763598472
|
0.00002
|
NM_024675.4(PALB2):c.1599T>C (p.Thr533=)
|
rs786201088
|
0.00002
|
NM_024675.4(PALB2):c.1767G>A (p.Thr589=)
|
rs769849072
|
0.00002
|
NM_024675.4(PALB2):c.3432C>T (p.Leu1144=)
|
rs748363227
|
0.00002
|
NM_032043.3(BRIP1):c.2804T>G (p.Val935Gly)
|
rs4988356
|
0.00002
|
NM_032043.3(BRIP1):c.2893A>C (p.Arg965=)
|
rs113697814
|
0.00002
|
NM_032043.3(BRIP1):c.924A>G (p.Lys308=)
|
rs374974885
|
0.00002
|
NM_138694.4(PKHD1):c.10968A>G (p.Glu3656=)
|
rs1303599332
|
0.00002
|
NM_000038.6(APC):c.3378C>G (p.Ser1126Arg)
|
rs149353082
|
0.00001
|
NM_000038.6(APC):c.3909A>G (p.Gln1303=)
|
rs746289994
|
0.00001
|
NM_000038.6(APC):c.5304G>A (p.Lys1768=)
|
rs863224285
|
0.00001
|
NM_000038.6(APC):c.5952T>C (p.Asn1984=)
|
rs142019870
|
0.00001
|
NM_000038.6(APC):c.6492C>T (p.Gly2164=)
|
rs765332758
|
0.00001
|
NM_000038.6(APC):c.8100T>C (p.Asn2700=)
|
rs761326128
|
0.00001
|
NM_000051.4(ATM):c.1695A>G (p.Glu565=)
|
rs780932013
|
0.00001
|
NM_000051.4(ATM):c.2598T>G (p.Val866=)
|
rs730881350
|
0.00001
|
NM_000051.4(ATM):c.4365T>A (p.Ser1455Arg)
|
rs527471560
|
0.00001
|
NM_000051.4(ATM):c.4492T>C (p.Leu1498=)
|
rs748949478
|
0.00001
|
NM_000051.4(ATM):c.5063T>C (p.Ile1688Thr)
|
rs199836342
|
0.00001
|
NM_000051.4(ATM):c.5488A>G (p.Met1830Val)
|
rs587781622
|
0.00001
|
NM_000051.4(ATM):c.6572+4T>C
|
rs587780636
|
0.00001
|
NM_000051.4(ATM):c.7502A>G (p.Asn2501Ser)
|
rs531617441
|
0.00001
|
NM_000051.4(ATM):c.7566A>G (p.Gln2522=)
|
rs775621333
|
0.00001
|
NM_000051.4(ATM):c.858A>G (p.Gln286=)
|
rs145301478
|
0.00001
|
NM_000059.4(BRCA2):c.10111A>G (p.Thr3371Ala)
|
rs80358393
|
0.00001
|
NM_000059.4(BRCA2):c.3326C>T (p.Ala1109Val)
|
rs41293479
|
0.00001
|
NM_000059.4(BRCA2):c.3672C>T (p.Gly1224=)
|
rs587780650
|
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.4271C>G (p.Ser1424Cys)
|
rs80358664
|
0.00001
|
NM_000059.4(BRCA2):c.4376A>G (p.Asn1459Ser)
|
rs117187202
|
0.00001
|
NM_000059.4(BRCA2):c.441A>G (p.Gln147=)
|
rs80358676
|
0.00001
|
NM_000059.4(BRCA2):c.5278T>G (p.Ser1760Ala)
|
rs28897735
|
0.00001
|
NM_000059.4(BRCA2):c.5723T>C (p.Leu1908Pro)
|
rs80358797
|
0.00001
|
NM_000059.4(BRCA2):c.599C>T (p.Thr200Ile)
|
rs587781402
|
0.00001
|
NM_000059.4(BRCA2):c.6231G>C (p.Lys2077Asn)
|
rs541826447
|
0.00001
|
NM_000059.4(BRCA2):c.6288T>G (p.Pro2096=)
|
rs372527810
|
0.00001
|
NM_000059.4(BRCA2):c.636A>G (p.Arg212=)
|
rs950724350
|
0.00001
|
NM_000059.4(BRCA2):c.7096C>G (p.Leu2366Val)
|
rs80358941
|
0.00001
|
NM_000059.4(BRCA2):c.7436-4A>G
|
rs81002904
|
0.00001
|
NM_000059.4(BRCA2):c.7463G>A (p.Arg2488Lys)
|
rs80358968
|
0.00001
|
NM_000059.4(BRCA2):c.7481G>A (p.Arg2494Gln)
|
rs80358973
|
0.00001
|
NM_000059.4(BRCA2):c.7759C>T (p.Leu2587Phe)
|
rs56335340
|
0.00001
|
NM_000059.4(BRCA2):c.7928C>G (p.Ala2643Gly)
|
rs80359018
|
0.00001
|
NM_000059.4(BRCA2):c.8117A>G (p.Asn2706Ser)
|
rs80359055
|
0.00001
|
NM_000059.4(BRCA2):c.8356G>A (p.Ala2786Thr)
|
rs80359077
|
0.00001
|
NM_000059.4(BRCA2):c.8359C>T (p.Arg2787Cys)
|
rs41293517
|
0.00001
|
NM_000059.4(BRCA2):c.8417C>T (p.Ser2806Leu)
|
rs587782785
|
0.00001
|
NM_000059.4(BRCA2):c.8545A>G (p.Lys2849Glu)
|
rs80359109
|
0.00001
|
NM_000059.4(BRCA2):c.8668C>A (p.Leu2890Ile)
|
rs80359127
|
0.00001
|
NM_000059.4(BRCA2):c.9076C>G (p.Gln3026Glu)
|
rs80359159
|
0.00001
|
NM_000059.4(BRCA2):c.9242T>C (p.Val3081Ala)
|
rs80359189
|
0.00001
|
NM_000059.4(BRCA2):c.9257-18C>A
|
rs81002807
|
0.00001
|
NM_000059.4(BRCA2):c.9433G>C (p.Val3145Leu)
|
rs587776476
|
0.00001
|
NM_000059.4(BRCA2):c.964A>C (p.Lys322Gln)
|
rs11571640
|
0.00001
|
NM_000090.4(COL3A1):c.1864C>T (p.Pro622Ser)
|
rs772638774
|
0.00001
|
NM_000090.4(COL3A1):c.2048G>A (p.Arg683His)
|
rs753162027
|
0.00001
|
NM_000090.4(COL3A1):c.289C>T (p.Arg97Cys)
|
rs768671254
|
0.00001
|
NM_000179.3(MSH6):c.1132A>C (p.Arg378=)
|
rs781572949
|
0.00001
|
NM_000179.3(MSH6):c.1403G>A (p.Arg468His)
|
rs41295268
|
0.00001
|
NM_000179.3(MSH6):c.2765G>A (p.Arg922Gln)
|
rs752839086
|
0.00001
|
NM_000179.3(MSH6):c.3198T>C (p.Tyr1066=)
|
rs199643502
|
0.00001
|
NM_000179.3(MSH6):c.33C>G (p.Phe11Leu)
|
rs747802641
|
0.00001
|
NM_000179.3(MSH6):c.3980A>G (p.Asn1327Ser)
|
rs780187989
|
0.00001
|
NM_000214.3(JAG1):c.74G>A (p.Arg25Gln)
|
rs1265642949
|
0.00001
|
NM_000249.4(MLH1):c.30G>T (p.Arg10=)
|
rs876660759
|
0.00001
|
NM_000251.3(MSH2):c.118G>A (p.Gly40Ser)
|
rs63751260
|
0.00001
|
NM_000251.3(MSH2):c.645+3A>G
|
rs587779168
|
0.00001
|
NM_000335.5(SCN5A):c.2770G>A (p.Val924Ile)
|
rs199473177
|
0.00001
|
NM_000455.5(STK11):c.1039G>A (p.Ala347Thr)
|
rs369744528
|
0.00001
|
NM_000455.5(STK11):c.559G>A (p.Gly187Ser)
|
rs587782032
|
0.00001
|
NM_000455.5(STK11):c.632G>A (p.Arg211Gln)
|
rs730881982
|
0.00001
|
NM_000492.4(CFTR):c.164+12T>C
|
rs121908790
|
0.00001
|
NM_000492.4(CFTR):c.2280G>A (p.Thr760=)
|
rs138634146
|
0.00001
|
NM_000492.4(CFTR):c.2808A>G (p.Pro936=)
|
rs397508438
|
0.00001
|
NM_000492.4(CFTR):c.2835G>A (p.Ser945=)
|
rs193922513
|
0.00001
|
NM_000492.4(CFTR):c.3588A>T (p.Ser1196=)
|
rs759202870
|
0.00001
|
NM_000492.4(CFTR):c.3759G>A (p.Leu1253=)
|
rs117400534
|
0.00001
|
NM_000492.4(CFTR):c.3969G>A (p.Gly1323=)
|
rs886061952
|
0.00001
|
NM_000518.4(HBB):c.410G>A (p.Gly137Asp)
|
rs33949486
|
0.00001
|
NM_000518.5(HBB):c.122G>A (p.Arg41Lys)
|
rs34831026
|
0.00001
|
NM_000518.5(HBB):c.274C>T (p.Leu92=)
|
rs769583496
|
0.00001
|
NM_000518.5(HBB):c.286A>G (p.Lys96Glu)
|
rs33914359
|
0.00001
|
NM_000518.5(HBB):c.45G>A (p.Leu15=)
|
rs762782573
|
0.00001
|
NM_000535.7(PMS2):c.1344A>T (p.Gly448=)
|
rs759192470
|
0.00001
|
NM_000535.7(PMS2):c.27A>C (p.Thr9=)
|
rs1060504842
|
0.00001
|
NM_000535.7(PMS2):c.711A>G (p.Gln237=)
|
rs368608818
|
0.00001
|
NM_000543.5(SMPD1):c.1529C>T (p.Ser510Phe)
|
rs200652683
|
0.00001
|
NM_000548.5(TSC2):c.576C>T (p.Asp192=)
|
rs761704292
|
0.00001
|
NM_000719.7(CACNA1C):c.5338C>T (p.Arg1780Cys)
|
rs371760034
|
0.00001
|
NM_001005242.3(PKP2):c.473G>A (p.Arg158Lys)
|
rs397517027
|
0.00001
|
NM_001035.3(RYR2):c.3151C>T (p.Arg1051Cys)
|
rs533330664
|
0.00001
|
NM_001035.3(RYR2):c.4241G>A (p.Arg1414Gln)
|
rs727504850
|
0.00001
|
NM_001042492.3(NF1):c.354C>T (p.Cys118=)
|
rs768777585
|
0.00001
|
NM_001042492.3(NF1):c.4421C>T (p.Ala1474Val)
|
rs587781553
|
0.00001
|
NM_001103.4(ACTN2):c.616-3C>T
|
rs111464645
|
0.00001
|
NM_001267550.2(TTN):c.102164T>C (p.Val34055Ala)
|
rs752582515
|
0.00001
|
NM_001267550.2(TTN):c.17280G>A (p.Thr5760=)
|
rs748617936
|
0.00001
|
NM_001267550.2(TTN):c.2766C>T (p.Arg922=)
|
rs372617952
|
0.00001
|
NM_001267550.2(TTN):c.27914G>A (p.Arg9305Gln)
|
rs397517527
|
0.00001
|
NM_001267550.2(TTN):c.44599G>A (p.Gly14867Arg)
|
rs144848584
|
0.00001
|
NM_001267550.2(TTN):c.55290C>T (p.Pro18430=)
|
rs777904054
|
0.00001
|
NM_001267550.2(TTN):c.57243T>A (p.Ile19081=)
|
rs1185555417
|
0.00001
|
NM_001267550.2(TTN):c.58022G>A (p.Ser19341Asn)
|
rs536645864
|
0.00001
|
NM_001267550.2(TTN):c.85953A>G (p.Leu28651=)
|
rs546573613
|
0.00001
|
NM_001267550.2(TTN):c.97418G>A (p.Arg32473His)
|
rs397517770
|
0.00001
|
NM_001386795.1(DTNA):c.476G>A (p.Ser159Asn)
|
rs147115867
|
0.00001
|
NM_001849.4(COL6A2):c.2397T>C (p.Asp799=)
|
rs754203636
|
0.00001
|
NM_001943.5(DSG2):c.269C>T (p.Thr90Ile)
|
rs772744115
|
0.00001
|
NM_002230.4(JUP):c.266T>C (p.Met89Thr)
|
rs542745694
|
0.00001
|
NM_002474.3(MYH11):c.4069G>A (p.Glu1357Lys)
|
rs141184241
|
0.00001
|
NM_002474.3(MYH11):c.5422G>A (p.Val1808Ile)
|
rs780870767
|
0.00001
|
NM_002485.5(NBN):c.666C>T (p.Phe222=)
|
rs876661098
|
0.00001
|
NM_002485.5(NBN):c.798G>A (p.Pro266=)
|
rs368786672
|
0.00001
|
NM_002691.4(POLD1):c.2327G>A (p.Arg776Gln)
|
rs141801845
|
0.00001
|
NM_002834.5(PTPN11):c.1579C>T (p.Arg527Cys)
|
rs191525506
|
0.00001
|
NM_002878.4(RAD51D):c.22C>T (p.Leu8=)
|
rs876659203
|
0.00001
|
NM_002880.4(RAF1):c.321T>C (p.Gly107=)
|
rs201937982
|
0.00001
|
NM_002880.4(RAF1):c.835G>A (p.Asp279Asn)
|
rs368796800
|
0.00001
|
NM_004004.6(GJB2):c.146C>T (p.Ala49Val)
|
rs1057517976
|
0.00001
|
NM_004329.3(BMPR1A):c.749T>C (p.Met250Thr)
|
rs587780783
|
0.00001
|
NM_004360.5(CDH1):c.1132A>C (p.Thr378Pro)
|
rs587781432
|
0.00001
|
NM_004360.5(CDH1):c.1370C>T (p.Thr457Met)
|
rs587778170
|
0.00001
|
NM_004360.5(CDH1):c.370C>T (p.Arg124Cys)
|
rs748086082
|
0.00001
|
NM_004937.3(CTNS):c.612C>T (p.Asn204=)
|
rs200170842
|
0.00001
|
NM_005359.6(SMAD4):c.960T>C (p.Pro320=)
|
rs1568208159
|
0.00001
|
NM_005502.4(ABCA1):c.4482A>G (p.Ala1494=)
|
rs1250688041
|
0.00001
|
NM_005633.4(SOS1):c.2728G>C (p.Asp910His)
|
rs369277679
|
0.00001
|
NM_005732.4(RAD50):c.2530A>C (p.Ser844Arg)
|
rs373817937
|
0.00001
|
NM_005751.5(AKAP9):c.4837A>G (p.Met1613Val)
|
rs193922723
|
0.00001
|
NM_005751.5(AKAP9):c.5870A>G (p.Asn1957Ser)
|
rs767966419
|
0.00001
|
NM_005751.5(AKAP9):c.9881G>A (p.Arg3294Gln)
|
rs752685614
|
0.00001
|
NM_006231.4(POLE):c.4555C>T (p.Arg1519Cys)
|
rs542430685
|
0.00001
|
NM_006231.4(POLE):c.4667G>A (p.Arg1556Gln)
|
rs762965148
|
0.00001
|
NM_007078.3(LDB3):c.550A>G (p.Lys184Glu)
|
rs774886148
|
0.00001
|
NM_007194.4(CHEK2):c.1287G>A (p.Glu429=)
|
rs758102180
|
0.00001
|
NM_007194.4(CHEK2):c.1357G>C (p.Ala453Pro)
|
rs763395924
|
0.00001
|
NM_007194.4(CHEK2):c.1452G>A (p.Pro484=)
|
rs749156425
|
0.00001
|
NM_007194.4(CHEK2):c.1501G>A (p.Glu501Lys)
|
rs17883172
|
0.00001
|
NM_007194.4(CHEK2):c.1593G>A (p.Glu531=)
|
rs758555487
|
0.00001
|
NM_007294.4(BRCA1):c.1081T>C (p.Ser361Pro)
|
rs80356946
|
0.00001
|
NM_007294.4(BRCA1):c.1397G>A (p.Arg466Gln)
|
rs199540030
|
0.00001
|
NM_007294.4(BRCA1):c.1866G>A (p.Ala622=)
|
rs1800064
|
0.00001
|
NM_007294.4(BRCA1):c.1924G>C (p.Asp642His)
|
rs80357344
|
0.00001
|
NM_007294.4(BRCA1):c.230C>T (p.Thr77Met)
|
rs80357209
|
0.00001
|
NM_007294.4(BRCA1):c.2580A>G (p.Thr860=)
|
rs556684572
|
0.00001
|
NM_007294.4(BRCA1):c.3327A>C (p.Lys1109Asn)
|
rs41293449
|
0.00001
|
NM_007294.4(BRCA1):c.3416G>T (p.Ser1139Ile)
|
rs80357228
|
0.00001
|
NM_007294.4(BRCA1):c.3596C>T (p.Ala1199Val)
|
rs587782458
|
0.00001
|
NM_007294.4(BRCA1):c.3711A>G (p.Ile1237Met)
|
rs80357388
|
0.00001
|
NM_007294.4(BRCA1):c.378A>G (p.Gln126=)
|
rs786201256
|
0.00001
|
NM_007294.4(BRCA1):c.4047G>A (p.Thr1349=)
|
rs758515222
|
0.00001
|
NM_007294.4(BRCA1):c.4181C>T (p.Thr1394Ile)
|
rs397507226
|
0.00001
|
NM_007294.4(BRCA1):c.4209C>T (p.Asn1403=)
|
rs786201224
|
0.00001
|
NM_007294.4(BRCA1):c.4816A>G (p.Lys1606Glu)
|
rs80356943
|
0.00001
|
NM_007294.4(BRCA1):c.5022C>T (p.Ile1674=)
|
rs786203868
|
0.00001
|
NM_007294.4(BRCA1):c.564A>G (p.Glu188=)
|
rs768065826
|
0.00001
|
NM_007294.4(BRCA1):c.716A>G (p.His239Arg)
|
rs80357396
|
0.00001
|
NM_007294.4(BRCA1):c.995G>A (p.Arg332Gln)
|
rs80357464
|
0.00001
|
NM_017617.5(NOTCH1):c.4571C>T (p.Ala1524Val)
|
rs774374213
|
0.00001
|
NM_024334.3(TMEM43):c.1120_1121del (p.Leu374fs)
|
rs746672224
|
0.00001
|
NM_024334.3(TMEM43):c.99G>A (p.Ser33=)
|
rs147710692
|
0.00001
|
NM_024675.4(PALB2):c.1941T>C (p.His647=)
|
rs745467835
|
0.00001
|
NM_024675.4(PALB2):c.2258G>A (p.Arg753Gln)
|
rs587778586
|
0.00001
|
NM_024675.4(PALB2):c.899C>T (p.Thr300Ile)
|
rs528541334
|
0.00001
|
NM_025136.4(OPA3):c.123C>G (p.Ile41Met)
|
rs763083098
|
0.00001
|
NM_053025.4(MYLK):c.2227G>A (p.Ala743Thr)
|
rs145191000
|
0.00001
|
NM_053025.4(MYLK):c.4700G>A (p.Arg1567Gln)
|
rs757766496
|
0.00001
|
NM_058216.3(RAD51C):c.234A>G (p.Thr78=)
|
rs730881929
|
0.00001
|
NM_139076.3(ABRAXAS1):c.578G>A (p.Arg193Gln)
|
rs138594808
|
0.00001
|
NM_139076.3(ABRAXAS1):c.952G>A (p.Asp318Asn)
|
rs775345294
|
0.00001
|
NM_152594.3(SPRED1):c.211G>A (p.Val71Ile)
|
rs369150309
|
0.00001
|
NM_206937.2(LIG4):c.1236T>A (p.Asn412Lys)
|
rs755358293
|
0.00001
|
NM_000038.6(APC):c.4212C>T (p.Ser1404=)
|
rs144655979
|
|
NM_000038.6(APC):c.4765C>T (p.Arg1589Cys)
|
rs72541813
|
|
NM_000038.6(APC):c.5378C>G (p.Ala1793Gly)
|
rs764203580
|
|
NM_000038.6(APC):c.7696A>C (p.Arg2566=)
|
rs1060504883
|
|
NM_000051.4(ATM):c.2804C>G (p.Thr935Arg)
|
rs3218708
|
|
NM_000051.4(ATM):c.3154-4G>A
|
rs199543313
|
|
NM_000051.4(ATM):c.3352A>G (p.Thr1118Ala)
|
rs572564322
|
|
NM_000051.4(ATM):c.5675-4T>A
|
rs56075338
|
|
NM_000051.4(ATM):c.6998C>A (p.Thr2333Lys)
|
rs150503164
|
|
NM_000051.4(ATM):c.6998C>T (p.Thr2333Ile)
|
rs150503164
|
|
NM_000054.7(AVPR2):c.191GGCGGGGCC[1] (p.64RRG[1])
|
rs782292545
|
|
NM_000059.4(BRCA2):c.10024G>T (p.Glu3342Ter)
|
rs28897761
|
|
NM_000059.4(BRCA2):c.10094_10095insGAATTATATC (p.Ser3366fs)
|
rs1064792995
|
|
NM_000059.4(BRCA2):c.1254A>C (p.Ser418=)
|
rs1052409595
|
|
NM_000059.4(BRCA2):c.1447G>C (p.Ala483Pro)
|
rs80358432
|
|
NM_000059.4(BRCA2):c.162CAA[1] (p.Asn56del)
|
rs11571587
|
|
NM_000059.4(BRCA2):c.2793A>C (p.Gly931=)
|
rs786201315
|
|
NM_000059.4(BRCA2):c.2803G>C (p.Asp935His)
|
rs28897716
|
|
NM_000059.4(BRCA2):c.3395_3396delinsGG (p.Lys1132Arg)
|
rs1060502496
|
|
NM_000059.4(BRCA2):c.3569G>A (p.Arg1190Gln)
|
rs80358605
|
|
NM_000059.4(BRCA2):c.3858_3860del (p.Lys1286del)
|
rs80359406
|
|
NM_000059.4(BRCA2):c.4062G>T (p.Thr1354=)
|
rs768735660
|
|
NM_000059.4(BRCA2):c.4143AGA[1] (p.Glu1382del)
|
rs80359432
|
|
NM_000059.4(BRCA2):c.430GTT[1] (p.Val145del)
|
rs80359442
|
|
NM_000059.4(BRCA2):c.4320A>G (p.Lys1440=)
|
rs769535925
|
|
NM_000059.4(BRCA2):c.4461A>G (p.Lys1487=)
|
rs786201350
|
|
NM_000059.4(BRCA2):c.4620C>T (p.Asp1540=)
|
rs1555283875
|
|
NM_000059.4(BRCA2):c.476-9dup
|
rs276174849
|
|
NM_000059.4(BRCA2):c.4928T>C (p.Val1643Ala)
|
rs28897731
|
|
NM_000059.4(BRCA2):c.5554G>A (p.Val1852Ile)
|
rs80358777
|
|
NM_000059.4(BRCA2):c.6131G>C (p.Gly2044Ala)
|
rs56191579
|
|
NM_000059.4(BRCA2):c.6225A>C (p.Lys2075Asn)
|
rs80358863
|
|
NM_000059.4(BRCA2):c.63A>G (p.Lys21=)
|
rs1280004443
|
|
NM_000059.4(BRCA2):c.6423T>G (p.Gly2141=)
|
rs780721021
|
|
NM_000059.4(BRCA2):c.6915G>A (p.Lys2305=)
|
rs1555285156
|
|
NM_000059.4(BRCA2):c.7056T>A (p.Pro2352=)
|
rs276174888
|
|
NM_000059.4(BRCA2):c.7188G>T (p.Leu2396Phe)
|
rs587780871
|
|
NM_000059.4(BRCA2):c.7436-10T>C
|
rs398122582
|
|
NM_000059.4(BRCA2):c.7598C>G (p.Ser2533Cys)
|
rs80358987
|
|
NM_000059.4(BRCA2):c.7618-6G>T
|
rs1057520251
|
|
NM_000059.4(BRCA2):c.7630G>A (p.Gly2544Ser)
|
rs587781485
|
|
NM_000059.4(BRCA2):c.7767C>T (p.Pro2589=)
|
rs2072711060
|
|
NM_000059.4(BRCA2):c.8309C>A (p.Ala2770Asp)
|
rs28897750
|
|
NM_000059.4(BRCA2):c.8488-5T>C
|
rs533806629
|
|
NM_000059.4(BRCA2):c.8572C>A (p.Gln2858Lys)
|
rs80359112
|
|
NM_000059.4(BRCA2):c.865A>G (p.Asn289Asp)
|
rs766173
|
|
NM_000059.4(BRCA2):c.9104A>G (p.Tyr3035Cys)
|
rs80359165
|
|
NM_000059.4(BRCA2):c.9175A>G (p.Lys3059Glu)
|
rs80359174
|
|
NM_000059.4(BRCA2):c.9257G>C (p.Gly3086Ala)
|
rs574271678
|
|
NM_000059.4(BRCA2):c.9364G>A (p.Ala3122Thr)
|
rs587782313
|
|
NM_000059.4(BRCA2):c.939T>C (p.Ser313=)
|
rs1593891536
|
|
NM_000059.4(BRCA2):c.956A>G (p.Asn319Ser)
|
rs55939572
|
|
NM_000059.4(BRCA2):c.9613_9614delinsCT (p.Ala3205Leu)
|
rs276174926
|
|
NM_000059.4(BRCA2):c.9649-6dup
|
rs276174929
|
|
NM_000059.4(BRCA2):c.978C>G (p.Ser326Arg)
|
rs28897706
|
|
NM_000064.4(C3):c.2246-18_2246-17delinsTT
|
|
|
NM_000069.3(CACNA1S):c.2167G>A (p.Asp723Asn)
|
|
|
NM_000077.5(CDKN2A):c.-16GGCGGCGGGGAGCAGCATGGAGCC[1] (p.Ala4_Pro11del)
|
rs587780668
|
|
NM_000077.5(CDKN2A):c.370C>T (p.Arg124Cys)
|
rs34170727
|
|
NM_000091.5(COL4A3):c.4825C>A (p.Arg1609=)
|
rs756231749
|
|
NM_000093.5(COL5A1):c.514G>T (p.Val172Phe)
|
rs150147262
|
|
NM_000093.5(COL5A1):c.5350G>A (p.Ala1784Thr)
|
rs143859495
|
|
NM_000098.3(CPT2):c.577C>T (p.Arg193Cys)
|
rs375968699
|
|
NM_000101.4(CYBA):c.524CGG[3] (p.Ala176dup)
|
rs760275837
|
|
NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg)
|
rs4253208
|
|
NM_000152.5(GAA):c.2064C>T (p.Ser688=)
|
rs140996643
|
|
NM_000179.3(MSH6):c.1902G>A (p.Leu634=)
|
rs1572724876
|
|
NM_000179.3(MSH6):c.2986T>C (p.Leu996=)
|
rs876658605
|
|
NM_000179.3(MSH6):c.3259C>T (p.Pro1087Ser)
|
rs63750998
|
|
NM_000179.3(MSH6):c.3456A>G (p.Val1152=)
|
rs750998416
|
|
NM_000179.3(MSH6):c.3758T>A (p.Val1253Glu)
|
rs202066386
|
|
NM_000179.3(MSH6):c.3930G>A (p.Glu1310=)
|
rs267608129
|
|
NM_000179.3(MSH6):c.3990A>G (p.Leu1330=)
|
rs1558394684
|
|
NM_000179.3(MSH6):c.4001+4_4001+8dup
|
rs587782853
|
|
NM_000179.3(MSH6):c.866_867delinsAA (p.Gly289Glu)
|
rs267608079
|
|
NM_000179.3(MSH6):c.905G>C (p.Arg302Thr)
|
rs587781510
|
|
NM_000179.3(MSH6):c.945T>G (p.Ser315=)
|
rs761581941
|
|
NM_000195.5(HPS1):c.678_680delinsTGT (p.Ser227Val)
|
rs1554892764
|
|
NM_000209.4(PDX1):c.97C>A (p.Pro33Thr)
|
rs192902098
|
|
NM_000209.4(PDX1):c.97C>G (p.Pro33Ala)
|
rs192902098
|
|
NM_000215.4(JAK3):c.2773C>A (p.Arg925Ser)
|
rs149452625
|
|
NM_000218.3(KCNQ1):c.160_168dup (p.Ile54_Pro56dup)
|
rs397515877
|
|
NM_000235.4(LIPA):c.429-10T>G
|
rs1554865817
|
|
NM_000243.3(MEFV):c.1318C>G (p.Gln440Glu)
|
rs11466026
|
|
NM_000249.4(MLH1):c.290A>G (p.Tyr97Cys)
|
rs773647920
|
|
NM_000249.4(MLH1):c.91_92delinsTG (p.Ala31Cys)
|
rs63749994
|
|
NM_000251.3(MSH2):c.1A>C (p.Met1Leu)
|
rs267607911
|
|
NM_000251.3(MSH2):c.2580G>T (p.Ser860=)
|
rs752428475
|
|
NM_000251.3(MSH2):c.2801C>T (p.Thr934Met)
|
rs587779969
|
|
NM_000263.4(NAGLU):c.9GGTGGC[3] (p.4VA[3])
|
rs1024697806
|
|
NM_000293.3(PHKB):c.1969C>A (p.Gln657Lys)
|
rs34667348
|
|
NM_000335.5(SCN5A):c.1714_1715delinsTT (p.Ala572Phe)
|
rs730880211
|
|
NM_000335.5(SCN5A):c.1993G>T (p.Ala665Ser)
|
rs756474485
|
|
NM_000352.6(ABCC8):c.2041-12C>T
|
rs201419039
|
|
NM_000361.3(THBD):c.168G>A (p.Arg56=)
|
|
|
NM_000387.6(SLC25A20):c.779_781del (p.Glu260del)
|
rs754871147
|
|
NM_000455.5(STK11):c.1225C>T (p.Arg409Trp)
|
rs368466538
|
|
NM_000455.5(STK11):c.318G>T (p.Arg106=)
|
rs777784520
|
|
NM_000455.5(STK11):c.465-4G>A
|
rs587780009
|
|
NM_000458.4(HNF1B):c.1108G>A (p.Gly370Ser)
|
|
|
NM_000458.4(HNF1B):c.226G>T (p.Gly76Cys)
|
|
|
NM_000465.4(BARD1):c.1461G>T (p.Val487=)
|
rs1694272372
|
|
NM_000465.4(BARD1):c.1518_1519delinsCT (p.Val507Leu)
|
rs386654966
|
|
NM_000465.4(BARD1):c.1644G>A (p.Lys548=)
|
rs1064796411
|
|
NM_000492.4(CFTR):c.1365G>T (p.Ala455=)
|
rs79074685
|
|
NM_000492.4(CFTR):c.1446T>A (p.Ile482=)
|
rs914422460
|
|
NM_000492.4(CFTR):c.1684G>A (p.Val562Ile)
|
rs1800097
|
|
NM_000515.5(GH1):c.7A>C (p.Thr3Pro)
|
rs2001345
|
|
NM_000518.4(HBB):c.157G>A (p.Asp53Asn)
|
rs33961886
|
|
NM_000518.5(HBB):c.402G>C (p.Val134=)
|
rs113082294
|
|
NM_000518.5(HBB):c.57G>A (p.Val19=)
|
rs1554918177
|
|
NM_000527.5(LDLR):c.148G>T (p.Ala50Ser)
|
rs137853960
|
|
NM_000527.5(LDLR):c.1836C>T (p.Ala612=)
|
rs143872778
|
|
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln)
|
|
|
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile)
|
rs137853964
|
|
NM_000527.5(LDLR):c.769C>T (p.Arg257Trp)
|
|
|
NM_000535.7(PMS2):c.1224T>C (p.Thr408=)
|
rs1554298007
|
|
NM_000535.7(PMS2):c.1688G>A (p.Arg563Gln)
|
rs63750668
|
|
NM_000535.7(PMS2):c.1688_1689delinsAG (p.Arg563Gln)
|
rs587780725
|
|
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His)
|
rs150396398
|
|
NM_000545.8(HNF1A):c.1135C>G (p.Pro379Ala)
|
rs754729248
|
|
NM_000545.8(HNF1A):c.872C>A (p.Pro291Gln)
|
rs193922606
|
|
NM_000546.6(TP53):c.1079G>T (p.Gly360Val)
|
rs35993958
|
|
NM_000546.6(TP53):c.31G>C (p.Glu11Gln)
|
rs201382018
|
|
NM_000546.6(TP53):c.66A>G (p.Leu22=)
|
rs748527030
|
|
NM_000546.6(TP53):c.924G>C (p.Leu308=)
|
rs786202546
|
|
NM_000552.5(VWF):c.1613C>T (p.Pro538Leu)
|
rs139196998
|
|
NM_000552.5(VWF):c.5793G>A (p.Gln1931=)
|
|
|
NM_000552.5(VWF):c.7624A>G (p.Ile2542Val)
|
|
|
NM_001005242.3(PKP2):c.1114G>C (p.Ala372Pro)
|
rs200586695
|
|
NM_001005242.3(PKP2):c.964G>T (p.Gly322Cys)
|
rs200069860
|
|
NM_001032386.2(SUOX):c.1636T>A (p.Ter546Arg)
|
rs574353697
|
|
NM_001035.3(RYR2):c.12667_12669del (p.Lys4223del)
|
rs794728838
|
|
NM_001035.3(RYR2):c.14757-7_14757-6delinsAT
|
rs727504630
|
|
NM_001035.3(RYR2):c.19G>A (p.Gly7Ser)
|
rs779910353
|
|
NM_001035.3(RYR2):c.8573TGGAGT[1] (p.Leu2860_Glu2861del)
|
rs794728835
|
|
NM_001040113.2(MYH11):c.5819dup (p.Gln1941fs)
|
rs747392139
|
|
NM_001040142.2(SCN2A):c.81A>G (p.Gln27=)
|
rs1162322343
|
|
NM_001042545.2(LTBP4):c.56_67dup (p.Leu19_Gln22dup)
|
rs1220133830
|
|
NM_001085049.3(MRAS):c.552GAA[4] (p.Lys189del)
|
rs752298978
|
|
NM_001128159.3(VPS53):c.2458C>G (p.Arg820Gly)
|
rs561656938
|
|
NM_001134363.3(RBM20):c.125AGC[3] (p.Gln43dup)
|
rs397516593
|
|
NM_001134363.3(RBM20):c.2565_2570del (p.Gln856_Glu857del)
|
rs397516603
|
|
NM_001134363.3(RBM20):c.3584C>A (p.Ser1195Tyr)
|
rs753102653
|
|
NM_001148.6(ANK2):c.10362G>C (p.Arg3454Ser)
|
rs55726422
|
|
NM_001148.6(ANK2):c.3255G>A (p.Ala1085=)
|
rs56173868
|
|
NM_001148.6(ANK2):c.5231C>A (p.Ala1744Asp)
|
rs147706514
|
|
NM_001159699.2(FHL1):c.737-9del
|
rs374867802
|
|
NM_001267550.2(TTN):c.105514_105516del (p.Ser35172del)
|
rs573843615
|
|
NM_001267550.2(TTN):c.14788C>A (p.Pro4930Thr)
|
rs201744218
|
|
NM_001267550.2(TTN):c.156C>G (p.Pro52=)
|
rs72647842
|
|
NM_001267550.2(TTN):c.23538C>G (p.Phe7846Leu)
|
rs149523263
|
|
NM_001267550.2(TTN):c.23538C>T (p.Phe7846=)
|
rs149523263
|
|
NM_001267550.2(TTN):c.31505C>T (p.Ser10502Leu)
|
rs768632287
|
|
NM_001267550.2(TTN):c.3241G>A (p.Ala1081Thr)
|
rs55914517
|
|
NM_001267550.2(TTN):c.34241AAG[2] (p.Glu11416del)
|
rs397517549
|
|
NM_001267550.2(TTN):c.34660GAA[1] (p.Glu11555del)
|
rs763098227
|
|
NM_001267550.2(TTN):c.36044C>G (p.Thr12015Arg)
|
rs199868380
|
|
NM_001267550.2(TTN):c.5739C>T (p.Thr1913=)
|
rs530291008
|
|
NM_001267550.2(TTN):c.6359G>T (p.Arg2120Leu)
|
rs141142920
|
|
NM_001267550.2(TTN):c.74597CAA[1] (p.Thr24867del)
|
rs543318580
|
|
NM_001267550.2(TTN):c.86683G>A (p.Val28895Met)
|
rs201290358
|
|
NM_001267550.2(TTN):c.89457A>G (p.Gly29819=)
|
rs1553542686
|
|
NM_001267550.2(TTN):c.95598C>T (p.Thr31866=)
|
rs1553520323
|
|
NM_001267550.2(TTN):c.96235G>A (p.Asp32079Asn)
|
rs200540781
|
|
NM_001365999.1(SZT2):c.7020G>A (p.Pro2340=)
|
rs375793150
|
|
NM_001369268.1(ACAN):c.5318T>C (p.Leu1773Pro)
|
|
|
NM_001378454.1(ALMS1):c.36GGA[21] (p.Glu21_Glu28dup)
|
rs55889738
|
|
NM_001379200.1(TBX1):c.1076G>A (p.Gly359Asp)
|
rs781731042
|
|
NM_001384140.1(PCDH15):c.4323_4328dup (p.Pro1443_Gly1444insProPro)
|
|
|
NM_001386795.1(DTNA):c.1766G>A (p.Arg589His)
|
rs200246467
|
|
NM_001395413.1(POR):c.1405G>A (p.Val469Met)
|
rs72557946
|
|
NM_001447.3(FAT2):c.3337G>A (p.Gly1113Ser)
|
|
|
NM_001715.3(BLK):c.574C>G (p.Arg192Gly)
|
|
|
NM_001852.4(COL9A2):c.364-16A>G
|
rs1979785
|
|
NM_001943.5(DSG2):c.1280+4AG[3]
|
rs876657791
|
|
NM_001999.4(FBN2):c.287_289del (p.Tyr96del)
|
rs555068280
|
|
NM_001999.4(FBN2):c.3710G>A (p.Arg1237His)
|
rs142185964
|
|
NM_001999.4(FBN2):c.518C>T (p.Thr173Ile)
|
rs147157552
|
|
NM_001999.4(FBN2):c.8082C>A (p.His2694Gln)
|
rs142755118
|
|
NM_002055.5(GFAP):c.376C>T (p.Arg126Trp)
|
|
|
NM_002317.7(LOX):c.73G>A (p.Ala25Thr)
|
|
|
NM_002471.4(MYH6):c.2717G>A (p.Arg906His)
|
rs527636904
|
|
NM_002474.3(MYH11):c.3874G>C (p.Val1292Leu)
|
rs151058774
|
|
NM_002474.3(MYH11):c.4855AAG[2] (p.Lys1621del)
|
rs755547393
|
|
NM_002485.5(NBN):c.758C>T (p.Thr253Ile)
|
rs61754967
|
|
NM_002693.3(POLG):c.264C>T (p.Phe88=)
|
rs144439703
|
|
NM_002834.5(PTPN11):c.1448-5C>T
|
rs554790621
|
|
NM_003673.4(TCAP):c.313G>A (p.Glu105Lys)
|
rs146906267
|
|
NM_004100.5(EYA4):c.103C>G (p.Leu35Val)
|
rs35562371
|
|
NM_004281.4(BAG3):c.212G>T (p.Arg71Leu)
|
rs35434411
|
|
NM_004329.3(BMPR1A):c.430+10C>T
|
rs863224395
|
|
NM_004329.3(BMPR1A):c.953A>G (p.Tyr318Cys)
|
rs587778111
|
|
NM_004333.6(BRAF):c.111G>A (p.Ser37=)
|
rs727502906
|
|
NM_004333.6(BRAF):c.83GCGCCG[2] (p.28GA[2])
|
rs397507458
|
|
NM_004333.6(BRAF):c.83GCGCCG[4] (p.28GA[4])
|
rs397507458
|
|
NM_004360.5(CDH1):c.1530C>T (p.Ala510=)
|
rs1597898262
|
|
NM_004360.5(CDH1):c.408A>G (p.Gln136=)
|
rs1060501229
|
|
NM_004360.5(CDH1):c.671G>T (p.Arg224Leu)
|
rs201511530
|
|
NM_004360.5(CDH1):c.69G>A (p.Gln23=)
|
rs786202657
|
|
NM_004415.4(DSP):c.157T>G (p.Ser53Ala)
|
rs397516918
|
|
NM_004415.4(DSP):c.3956C>G (p.Thr1319Ser)
|
rs138599871
|
|
NM_004415.4(DSP):c.8111AGA[2] (p.Lys2706del)
|
rs397516962
|
|
NM_004565.3(PEX14):c.48T>C (p.Thr16=)
|
rs779545665
|
|
NM_004612.4(TGFBR1):c.52GCG[10] (p.Ala26dup)
|
rs11466445
|
|
NM_004984.4(KIF5A):c.1191C>T (p.Thr397=)
|
rs1064797169
|
|
NM_004985.5(KRAS):c.451-5604T>C
|
rs397517476
|
|
NM_005188.4(CBL):c.107ACC[9] (p.His41_His42dup)
|
rs373212940
|
|
NM_005359.6(SMAD4):c.746_747delinsCC (p.Gln249Pro)
|
rs587782209
|
|
NM_005591.4(MRE11):c.19C>T (p.Leu7Phe)
|
rs73517551
|
|
NM_005633.4(SOS1):c.3709C>A (p.Pro1237Thr)
|
rs371408734
|
|
NM_005666.4(CFHR2):c.79A>G (p.Lys27Glu)
|
|
|
NM_005732.4(RAD50):c.3877_3879dup (p.Ile1293dup)
|
rs765370709
|
|
NM_005751.5(AKAP9):c.11229G>A (p.Met3743Ile)
|
rs143306820
|
|
NM_006231.4(POLE):c.2089C>G (p.Pro697Ala)
|
rs5744800
|
|
NM_006231.4(POLE):c.2090C>G (p.Pro697Arg)
|
rs36120395
|
|
NM_006231.4(POLE):c.3670_3671delinsTT (p.Ala1224Leu)
|
rs864622698
|
|
NM_006506.5(RASA2):c.535G>A (p.Ala179Thr)
|
|
|
NM_006767.4(LZTR1):c.1700G>A (p.Arg567His)
|
rs372417941
|
|
NM_006767.4(LZTR1):c.1901A>C (p.Gln634Pro)
|
rs770312150
|
|
NM_006767.4(LZTR1):c.26G>C (p.Gly9Ala)
|
rs756485244
|
|
NM_006767.4(LZTR1):c.26G>T (p.Gly9Val)
|
rs756485244
|
|
NM_006767.4(LZTR1):c.628C>A (p.Arg210=)
|
rs150419186
|
|
NM_007194.4(CHEK2):c.1216C>T (p.Arg406Cys)
|
rs587782527
|
|
NM_007194.4(CHEK2):c.1513T>A (p.Ser505Thr)
|
rs587781960
|
|
NM_007194.4(CHEK2):c.612G>T (p.Leu204=)
|
rs752876192
|
|
NM_007294.4(BRCA1):c.1008A>G (p.Thr336=)
|
rs1060504568
|
|
NM_007294.4(BRCA1):c.124A>G (p.Ile42Val)
|
rs80357163
|
|
NM_007294.4(BRCA1):c.1467G>A (p.Glu489=)
|
rs794726997
|
|
NM_007294.4(BRCA1):c.2083G>A (p.Asp695Asn)
|
rs28897681
|
|
NM_007294.4(BRCA1):c.2668G>A (p.Gly890Arg)
|
rs80357200
|
|
NM_007294.4(BRCA1):c.2964A>G (p.Ser988=)
|
rs1064796061
|
|
NM_007294.4(BRCA1):c.2998G>A (p.Glu1000Lys)
|
rs80357124
|
|
NM_007294.4(BRCA1):c.3328_3330del (p.Lys1110del)
|
rs80358335
|
|
NM_007294.4(BRCA1):c.3415AGT[1] (p.Ser1140del)
|
rs80358337
|
|
NM_007294.4(BRCA1):c.389A>T (p.Tyr130Phe)
|
rs56055578
|
|
NM_007294.4(BRCA1):c.423A>G (p.Glu141=)
|
rs777102216
|
|
NM_007294.4(BRCA1):c.4941C>A (p.Asn1647Lys)
|
rs80357302
|
|
NM_007294.4(BRCA1):c.5175A>C (p.Glu1725Asp)
|
rs191373374
|
|
NM_007294.4(BRCA1):c.548-9del
|
rs273902774
|
|
NM_007294.4(BRCA1):c.671-18_671-16del
|
rs398122354
|
|
NM_007294.4(BRCA1):c.964G>C (p.Ala322Pro)
|
rs80357252
|
|
NM_014000.3(VCL):c.2862_2864del (p.Leu955del)
|
rs397517237
|
|
NM_014391.3(ANKRD1):c.346-21ATTT[2]
|
rs397517250
|
|
NM_016030.6(TRAPPC12):c.1759G>A (p.Gly587Ser)
|
rs111556571
|
|
NM_016203.4(PRKAG2):c.224G>C (p.Gly75Ala)
|
rs199963585
|
|
NM_017617.5(NOTCH1):c.2558_2560del (p.Phe853del)
|
rs779164170
|
|
NM_017617.5(NOTCH1):c.4031C>T (p.Thr1344Met)
|
rs201215245
|
|
NM_019098.5(CNGB3):c.2158CAAAAAGAAAATGAAGATAAA[1] (p.720QKENEDK[1])
|
rs746549330
|
|
NM_020631.6(PLEKHG5):c.2160G>A (p.Glu720=)
|
rs867638588
|
|
NM_020975.6(RET):c.44TGC[8] (p.Leu19_Pro20insLeuLeuLeu)
|
rs768132465
|
|
NM_022436.3(ABCG5):c.139G>T (p.Val47Phe)
|
rs72542426
|
|
NM_022437.3(ABCG8):c.576C>A (p.Ile192=)
|
rs148058949
|
|
NM_024675.4(PALB2):c.1227T>C (p.Tyr409=)
|
rs1555461386
|
|
NM_024675.4(PALB2):c.2616G>T (p.Val872=)
|
rs1567215519
|
|
NM_024675.4(PALB2):c.2964A>G (p.Gln988=)
|
rs777244673
|
|
NM_024675.4(PALB2):c.3307G>A (p.Val1103Met)
|
rs201657283
|
|
NM_025074.7(FRAS1):c.11274C>A (p.His3758Gln)
|
|
|
NM_030662.4(MAP2K2):c.813C>G (p.Asp271Glu)
|
rs201726622
|
|
NM_030662.4(MAP2K2):c.860AAG[1] (p.Glu288del)
|
rs763469132
|
|
NM_032043.3(BRIP1):c.387T>C (p.Pro129=)
|
rs779324498
|
|
NM_032043.3(BRIP1):c.636C>A (p.Gly212=)
|
rs1057520255
|
|
NM_032119.4(ADGRV1):c.13668A>G (p.Thr4556=)
|
rs758546069
|
|
NM_032383.5(HPS3):c.887G>A (p.Arg296His)
|
|
|
NM_130837.3(OPA1):c.113_130del (p.Arg38_Ser43del)
|
rs863224140
|
|
NM_130837.3(OPA1):c.581T>C (p.Ile194Thr)
|
|
|
NM_133259.4(LRPPRC):c.7G>T (p.Ala3Ser)
|
rs200686732
|
|
NM_138694.4(PKHD1):c.10251C>T (p.Ser3417=)
|
rs372394177
|
|
NM_139076.3(ABRAXAS1):c.364C>G (p.Gln122Glu)
|
rs137876115
|
|
NM_139076.3(ABRAXAS1):c.826_828del (p.Glu276del)
|
rs748475674
|
|
NM_144670.6(A2ML1):c.137G>A (p.Gly46Glu)
|
rs757200771
|
|
NM_152703.5(SAMD9L):c.1524A>G (p.Thr508=)
|
rs1248188387
|
|
NM_173630.4(RTTN):c.3714A>G (p.Gln1238=)
|
|
|
NM_174936.4(PCSK9):c.1099G>C (p.Asp367His)
|
rs141867978
|
|
NM_174936.4(PCSK9):c.1405C>T (p.Arg469Trp)
|
|
|
NM_174936.4(PCSK9):c.266C>G (p.Ser89Trp)
|
rs771978846
|
|
NM_174936.4(PCSK9):c.45GCT[10] (p.Leu21_Leu23dup)
|
rs35574083
|
|
NM_183357.3(ADCY5):c.982G>A (p.Gly328Ser)
|
rs749154761
|
|
NM_201596.3(CACNB2):c.1702G>A (p.Val568Ile)
|
rs142639223
|
|