NM_000552.5(VWF):c.4641T>C (p.Thr1547=)
|
rs216310
|
0.71518
|
NM_000053.4(ATP7B):c.3419T>C (p.Val1140Ala)
|
rs1801249
|
0.57256
|
NM_000053.4(ATP7B):c.2855G>A (p.Arg952Lys)
|
rs732774
|
0.56484
|
NM_000552.5(VWF):c.2365A>G (p.Thr789Ala)
|
rs1063856
|
0.40814
|
NM_000540.3(RYR1):c.10687-7C>T
|
rs2960354
|
0.12378
|
NM_000036.3(AMPD1):c.34C>T (p.Gln12Ter)
|
rs17602729
|
0.08701
|
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp)
|
rs1050829
|
0.08672
|
NM_000041.2(APOE):c.526C>T (p.Arg176Cys)
|
rs7412
|
0.07986
|
NM_000155.4(GALT):c.940A>G (p.Asn314Asp)
|
rs2070074
|
0.07150
|
NM_000257.4(MYH7):c.1062C>T (p.Gly354=)
|
rs735712
|
0.06133
|
NM_001128164.2(ATXN1):c.627T>G (p.His209Gln)
|
rs11969612
|
0.05921
|
NM_000540.3(RYR1):c.13317C>T (p.Ala4439=)
|
rs113579185
|
0.04642
|
NM_000123.4(ERCC5):c.1586G>C (p.Cys529Ser)
|
rs2227869
|
0.04366
|
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln)
|
rs3743930
|
0.02112
|
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser)
|
rs11466023
|
0.01590
|
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln)
|
rs11466024
|
0.01456
|
NM_014915.3(ANKRD26):c.3384G>A (p.Lys1128=)
|
rs41299210
|
0.01449
|
NM_005612.5(REST):c.2443C>T (p.Pro815Ser)
|
rs114282228
|
0.01389
|
NM_004360.5(CDH1):c.-71C>G
|
rs34033771
|
0.00927
|
NM_002439.5(MSH3):c.1567G>A (p.Glu523Lys)
|
rs34058399
|
0.00789
|
NM_002386.4(MC1R):c.464T>C (p.Ile155Thr)
|
rs1110400
|
0.00675
|
NM_001372073.1(PDGFRL):c.408A>G (p.Ala136=)
|
rs34445293
|
0.00606
|
NM_199420.4(POLQ):c.4262_4268del (p.Ile1421fs)
|
rs546221341
|
0.00558
|
NM_002386.4(MC1R):c.252C>A (p.Asp84Glu)
|
rs1805006
|
0.00553
|
NM_212482.4(FN1):c.4486C>T (p.Arg1496Trp)
|
rs139078629
|
0.00542
|
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser)
|
rs147099630
|
0.00521
|
NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile)
|
rs146722795
|
0.00506
|
NM_001987.5(ETV6):c.602T>C (p.Leu201Pro)
|
rs145477191
|
0.00501
|
NM_004462.5(FDFT1):c.100-232G>C
|
rs181750463
|
0.00465
|
NM_001171.6(ABCC6):c.1171A>G (p.Arg391Gly)
|
rs72653762
|
0.00459
|
NM_000298.6(PKLR):c.1516G>A (p.Val506Ile)
|
rs8177988
|
0.00414
|
NM_000224.3(KRT18):c.689G>C (p.Ser230Thr)
|
rs58472472
|
0.00405
|
NM_000249.4(MLH1):c.1852A>G (p.Lys618Glu)
|
rs35001569
|
0.00399
|
NM_000249.4(MLH1):c.307-29C>A
|
rs139620056
|
0.00398
|
NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys)
|
rs16024
|
0.00390
|
NM_001098.3(ACO2):c.220C>G (p.Leu74Val)
|
rs141772938
|
0.00383
|
NM_000123.4(ERCC5):c.2877A>C (p.Arg959Ser)
|
rs41281674
|
0.00373
|
NM_001184.4(ATR):c.2290A>G (p.Lys764Glu)
|
rs77208665
|
0.00340
|
NM_021870.3(FGG):c.571G>A (p.Gly191Arg)
|
rs6063
|
0.00339
|
NM_000338.3(SLC12A1):c.347G>A (p.Arg116His)
|
rs34819316
|
0.00334
|
NM_198407.2(GHSR):c.531C>A (p.Pro177=)
|
rs4988509
|
0.00334
|
NM_000243.3(MEFV):c.910G>A (p.Gly304Arg)
|
rs75977701
|
0.00316
|
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu)
|
rs41292677
|
0.00308
|
NM_000249.4(MLH1):c.1963A>G (p.Ile655Val)
|
rs55907433
|
0.00297
|
NM_014252.4(SLC25A15):c.182G>A (p.Arg61His)
|
rs34615430
|
0.00292
|
NM_016953.4(PDE11A):c.919C>T (p.Arg307Ter)
|
rs76308115
|
0.00292
|
NM_001136193.2(FASTKD2):c.149A>G (p.Lys50Arg)
|
rs141447598
|
0.00289
|
NM_000341.4(SLC3A1):c.566C>T (p.Thr189Met)
|
rs140317484
|
0.00287
|
NM_006019.4(TCIRG1):c.1249G>A (p.Ala417Thr)
|
rs140963213
|
0.00275
|
NM_005199.5(CHRNG):c.714G>T (p.Gln238His)
|
rs17838626
|
0.00274
|
NM_207361.6(FREM2):c.2128C>T (p.Arg710Cys)
|
rs41292753
|
0.00274
|
NM_000352.6(ABCC8):c.1858C>T (p.Arg620Cys)
|
rs58241708
|
0.00272
|
NM_000298.6(PKLR):c.829G>A (p.Glu277Lys)
|
rs147689373
|
0.00269
|
NM_020361.5(CPA6):c.1237C>T (p.Leu413Phe)
|
rs142597675
|
0.00266
|
NM_003105.6(SORL1):c.5448T>C (p.Tyr1816=)
|
rs150315143
|
0.00262
|
NM_005562.3(LAMC2):c.493C>T (p.Arg165Cys)
|
rs142335339
|
0.00261
|
NM_000542.5(SFTPB):c.403G>A (p.Gly135Ser)
|
rs35373464
|
0.00256
|
NM_000179.3(MSH6):c.3911G>A (p.Arg1304Lys)
|
rs34625968
|
0.00253
|
NM_022370.4(ROBO3):c.1838C>T (p.Thr613Ile)
|
rs200202857
|
0.00252
|
NM_003126.4(SPTA1):c.3230G>A (p.Arg1077His)
|
rs199612744
|
0.00249
|
NM_032273.4(TMEM126A):c.314G>A (p.Arg105Gln)
|
rs146573578
|
0.00247
|
NM_000255.4(MMUT):c.205A>G (p.Ile69Val)
|
rs115923556
|
0.00243
|
NM_000179.3(MSH6):c.3439-16C>T
|
rs192614006
|
0.00237
|
NM_002439.5(MSH3):c.2732T>G (p.Leu911Trp)
|
rs41545019
|
0.00233
|
NM_020921.4(NIN):c.2665G>C (p.Val889Leu)
|
rs78251482
|
0.00231
|
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile)
|
rs61729954
|
0.00227
|
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala)
|
rs147222255
|
0.00223
|
NM_000350.3(ABCA4):c.466A>G (p.Ile156Val)
|
rs62646863
|
0.00222
|
NM_144773.4(PROKR2):c.518T>G (p.Leu173Arg)
|
rs74315416
|
0.00220
|
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala)
|
rs144942544
|
0.00217
|
NM_001001557.4(GDF6):c.112G>C (p.Gly38Arg)
|
rs139075817
|
0.00217
|
NM_001130438.3(SPTAN1):c.1303T>G (p.Ser435Ala)
|
rs144787939
|
0.00217
|
NM_000384.3(APOB):c.11257T>C (p.Phe3753Leu)
|
rs61741974
|
0.00213
|
NM_001142800.2(EYS):c.788A>G (p.His263Arg)
|
rs139517572
|
0.00213
|
NM_005245.4(FAT1):c.9440T>G (p.Val3147Gly)
|
rs188733415
|
0.00208
|
NM_006269.2(RP1):c.4250T>C (p.Leu1417Pro)
|
rs139294220
|
0.00204
|
NM_017775.4(TTC19):c.820A>G (p.Arg274Gly)
|
rs147111211
|
0.00202
|
NM_025074.7(FRAS1):c.5374G>A (p.Ala1792Thr)
|
rs150916370
|
0.00193
|
NM_001080472.4(FITM2):c.773A>G (p.Asp258Gly)
|
rs142318812
|
0.00190
|
NM_005236.3(ERCC4):c.2117T>C (p.Ile706Thr)
|
rs1800069
|
0.00190
|
NM_000350.3(ABCA4):c.4297G>A (p.Val1433Ile)
|
rs56357060
|
0.00189
|
NM_001377.3(DYNC2H1):c.3682C>A (p.Leu1228Ile)
|
rs189806840
|
0.00189
|
NM_016341.4(PLCE1):c.1567A>G (p.Ile523Val)
|
rs61751494
|
0.00188
|
NM_139285.4(GAS2L2):c.1441G>A (p.Ala481Thr)
|
rs143921323
|
0.00188
|
NM_153704.6(TMEM67):c.1078A>G (p.Thr360Ala)
|
rs140191346
|
0.00188
|
NM_000466.3(PEX1):c.637C>T (p.Leu213Phe)
|
rs141798874
|
0.00185
|
NM_020745.4(AARS2):c.1084A>T (p.Met362Leu)
|
rs147091256
|
0.00185
|
NM_001164508.2(NEB):c.18579+6T>C
|
rs116189169
|
0.00180
|
NM_000124.4(ERCC6):c.1996C>T (p.Arg666Cys)
|
rs61760163
|
0.00179
|
NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro)
|
rs139007661
|
0.00179
|
NM_000233.4(LHCGR):c.568C>A (p.Gln190Lys)
|
rs61996318
|
0.00175
|
NM_002253.4(KDR):c.1384T>G (p.Leu462Val)
|
rs56286620
|
0.00175
|
NM_001151.4(SLC25A4):c.490A>G (p.Ile164Val)
|
rs143511445
|
0.00173
|
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His)
|
rs143987857
|
0.00171
|
NM_005422.4(TECTA):c.2061C>G (p.Asn687Lys)
|
rs139165033
|
0.00171
|
NM_015425.6(POLR1A):c.2017C>G (p.Pro673Ala)
|
rs191928354
|
0.00170
|
NM_003859.3(DPM1):c.40C>T (p.Arg14Trp)
|
rs117175017
|
0.00169
|
NM_006019.4(TCIRG1):c.90C>T (p.Gly30=)
|
rs141859450
|
0.00162
|
NM_000567.3(CRP):c.176C>T (p.Thr59Met)
|
rs77832441
|
0.00160
|
NM_001379286.1(ZNF423):c.1655G>T (p.Gly552Val)
|
rs34425379
|
0.00158
|
NM_024996.7(GFM1):c.788A>G (p.Gln263Arg)
|
rs115984741
|
0.00158
|
NM_000022.4(ADA):c.402C>T (p.Gly134=)
|
rs146921882
|
0.00153
|
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His)
|
rs1800552
|
0.00153
|
NM_016239.4(MYO15A):c.1111C>A (p.Pro371Thr)
|
rs200382813
|
0.00153
|
NM_000789.4(ACE):c.209C>T (p.Ala70Val)
|
rs372565955
|
0.00152
|
NM_001009185.3(ACSL6):c.1652C>T (p.Thr551Met)
|
rs115302912
|
0.00151
|
NM_002253.4(KDR):c.1615G>A (p.Gly539Arg)
|
rs55716939
|
0.00150
|
NM_000359.3(TGM1):c.61A>G (p.Thr21Ala)
|
rs140542428
|
0.00149
|
NM_015102.5(NPHP4):c.2519G>A (p.Ser840Asn)
|
rs147588666
|
0.00147
|
NM_138694.4(PKHD1):c.1342G>C (p.Gly448Arg)
|
rs149781976
|
0.00146
|
NM_003079.5(SMARCE1):c.1079G>A (p.Gly360Asp)
|
rs142193069
|
0.00143
|
NM_015425.6(POLR1A):c.1097C>T (p.Ser366Phe)
|
rs183490100
|
0.00142
|
NM_001164508.2(NEB):c.23776C>T (p.Pro7926Ser)
|
rs193224180
|
0.00140
|
NM_000601.6(HGF):c.137C>T (p.Ala46Val)
|
rs150267054
|
0.00139
|
NM_000094.4(COL7A1):c.1613G>A (p.Arg538His)
|
rs138791004
|
0.00138
|
NM_173076.3(ABCA12):c.2033A>G (p.Asn678Ser)
|
rs147218173
|
0.00138
|
NM_000044.6(AR):c.2395C>G (p.Gln799Glu)
|
rs137852591
|
0.00137
|
NM_022124.6(CDH23):c.2239C>T (p.Arg747Cys)
|
rs200649500
|
0.00136
|
NM_181882.3(PRX):c.1574T>C (p.Val525Ala)
|
rs149715830
|
0.00136
|
NM_000213.5(ITGB4):c.1345G>A (p.Gly449Ser)
|
rs147963396
|
0.00135
|
NM_144508.5(KNL1):c.4772A>G (p.Asn1591Ser)
|
rs200656662
|
0.00135
|
NM_000336.3(SCNN1B):c.466C>T (p.Arg156Trp)
|
rs139310448
|
0.00132
|
NM_032119.4(ADGRV1):c.11974G>A (p.Asp3992Asn)
|
rs201386977
|
0.00131
|
NM_000305.3(PON2):c.358A>G (p.Ile120Val)
|
rs116397473
|
0.00129
|
NM_004655.4(AXIN2):c.1807G>C (p.Ala603Pro)
|
rs145353986
|
0.00128
|
NM_000147.5(FUCA1):c.433T>C (p.Trp145Arg)
|
rs150062050
|
0.00126
|
NM_001142800.2(EYS):c.5743A>G (p.Ser1915Gly)
|
rs188093810
|
0.00124
|
NM_012232.6(CAVIN1):c.540G>A (p.Glu180=)
|
rs143511306
|
0.00124
|
NM_004525.3(LRP2):c.13921A>T (p.Thr4641Ser)
|
rs79179577
|
0.00123
|
NM_173560.4(RFX6):c.223G>C (p.Glu75Gln)
|
rs201996097
|
0.00121
|
NM_006225.4(PLCD1):c.35-4000A>G
|
rs143961610
|
0.00117
|
NM_004937.3(CTNS):c.220G>A (p.Asp74Asn)
|
rs139364393
|
0.00116
|
NM_020435.4(GJC2):c.575C>G (p.Pro192Arg)
|
rs375318012
|
0.00116
|
NM_001369.3(DNAH5):c.8002G>A (p.Gly2668Arg)
|
rs147236883
|
0.00115
|
NM_000094.4(COL7A1):c.4559C>T (p.Pro1520Leu)
|
rs140114392
|
0.00113
|
NM_000044.6(AR):c.170T>A (p.Leu57Gln)
|
rs78686797
|
0.00112
|
NM_001941.5(DSC3):c.2488G>A (p.Gly830Ser)
|
rs142851621
|
0.00112
|
NM_022369.4(STRA6):c.1685-5C>G
|
rs201730717
|
0.00112
|
NM_000249.4(MLH1):c.-28A>G
|
rs56198082
|
0.00110
|
NM_000404.4(GLB1):c.623G>A (p.Arg208His)
|
rs111840209
|
0.00106
|
NM_006206.6(PDGFRA):c.1731G>A (p.Pro577=)
|
rs55830582
|
0.00105
|
NM_173076.3(ABCA12):c.6919A>G (p.Ile2307Val)
|
rs150196545
|
0.00105
|
NM_000125.4(ESR1):c.406C>T (p.Pro136Ser)
|
rs201145204
|
0.00103
|
NM_000426.4(LAMA2):c.1814C>T (p.Thr605Ile)
|
rs112388307
|
0.00103
|
NM_005245.4(FAT1):c.12622C>T (p.Arg4208Trp)
|
rs201960763
|
0.00103
|
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys)
|
rs55716624
|
0.00100
|
NM_005236.3(ERCC4):c.1563C>G (p.Ser521Arg)
|
rs41552412
|
0.00099
|
NM_020631.6(PLEKHG5):c.-88+6287G>A
|
rs554689677
|
0.00099
|
NM_000094.4(COL7A1):c.5819C>T (p.Pro1940Leu)
|
rs149267939
|
0.00098
|
NM_001171.6(ABCC6):c.2695C>T (p.Arg899Cys)
|
rs11861980
|
0.00098
|
NM_012414.4(RAB3GAP2):c.2290C>T (p.Leu764Phe)
|
rs139337049
|
0.00097
|
NM_173602.3(DIP2B):c.2374A>G (p.Ile792Val)
|
rs11169525
|
0.00097
|
NM_016038.4(SBDS):c.127G>T (p.Val43Leu)
|
rs147652512
|
0.00096
|
NM_001384479.1(AGT):c.704T>G (p.Leu235Arg)
|
rs5041
|
0.00095
|
NM_015272.5(RPGRIP1L):c.1156A>G (p.Lys386Glu)
|
rs137982921
|
0.00094
|
NM_004999.4(MYO6):c.92T>C (p.Ile31Thr)
|
rs148735953
|
0.00093
|
NM_004407.4(DMP1):c.263C>T (p.Ala88Val)
|
rs144773084
|
0.00092
|
NM_022081.6(HPS4):c.1543T>C (p.Cys515Arg)
|
rs148134252
|
0.00092
|
NM_173076.3(ABCA12):c.3481A>T (p.Met1161Leu)
|
rs141077206
|
0.00092
|
NM_000493.4(COL10A1):c.43T>G (p.Leu15Val)
|
rs147612968
|
0.00091
|
NM_004304.5(ALK):c.4796C>A (p.Pro1599His)
|
rs1881423
|
0.00091
|
NM_001358921.2(COQ2):c.44C>G (p.Ala15Gly)
|
rs555411841
|
0.00086
|
NM_001377265.1(MAPT):c.1891G>A (p.Ala631Thr)
|
rs63750096
|
0.00085
|
NM_198253.3(TERT):c.1336C>A (p.Arg446Ser)
|
rs567650961
|
0.00084
|
NM_001083116.3(PRF1):c.1620A>G (p.Gln540=)
|
rs149776121
|
0.00083
|
NM_032119.4(ADGRV1):c.9447+6G>A
|
rs201481219
|
0.00083
|
NM_002496.4(NDUFS8):c.19C>A (p.Pro7Thr)
|
rs142658611
|
0.00081
|
NM_001848.3(COL6A1):c.350T>C (p.Val117Ala)
|
rs138899581
|
0.00080
|
NM_173477.5(USH1G):c.1258C>G (p.Leu420Val)
|
rs139897506
|
0.00080
|
NM_000283.4(PDE6B):c.794G>A (p.Arg265Gln)
|
rs144562730
|
0.00079
|
NM_001378609.3(OTOGL):c.3675G>C (p.Gln1225His)
|
rs139375212
|
0.00079
|
NM_001211.6(BUB1B):c.3094A>C (p.Asn1032His)
|
rs34700927
|
0.00077
|
NM_001378969.1(KCND3):c.1573A>G (p.Met525Val)
|
rs145890206
|
0.00076
|
NM_002485.5(NBN):c.1354A>C (p.Thr452Pro)
|
rs141137543
|
0.00075
|
NM_022464.5(SIL1):c.1039G>A (p.Glu347Lys)
|
rs73265454
|
0.00073
|
NM_003835.4(RGS9):c.1658T>C (p.Val553Ala)
|
rs201026246
|
0.00072
|
NM_003742.4(ABCB11):c.3512T>C (p.Met1171Thr)
|
rs183621659
|
0.00071
|
NM_005245.4(FAT1):c.7130C>T (p.Thr2377Met)
|
rs201363601
|
0.00071
|
NM_006231.4(POLE):c.6004+11A>G
|
rs201591857
|
0.00071
|
NM_025074.7(FRAS1):c.1783G>A (p.Gly595Ser)
|
rs149843493
|
0.00070
|
NM_177438.3(DICER1):c.59C>T (p.Ala20Val)
|
rs147660793
|
0.00070
|
NM_001277058.2(ERCC6):c.2027T>G (p.Val676Gly)
|
rs139949788
|
0.00068
|
NM_001038.6(SCNN1A):c.614G>A (p.Ser205Asn)
|
rs147866964
|
0.00067
|
NM_198428.3(BBS9):c.2258A>T (p.Glu753Val)
|
rs61764068
|
0.00066
|
NM_000335.5(SCN5A):c.647C>T (p.Ser216Leu)
|
rs41276525
|
0.00065
|
NM_002491.3(NDUFB3):c.19C>T (p.His7Tyr)
|
rs144513268
|
0.00065
|
NM_015375.3(DSTYK):c.86G>A (p.Arg29Gln)
|
rs200780796
|
0.00065
|
NM_001164508.2(NEB):c.6088C>T (p.Leu2030Phe)
|
rs200251444
|
0.00063
|
NM_004807.3(HS6ST1):c.1144C>T (p.Arg382Trp)
|
rs199538589
|
0.00063
|
NM_001009944.3(PKD1):c.4856C>T (p.Ser1619Phe)
|
rs146723506
|
0.00061
|
NM_006767.4(LZTR1):c.1723G>A (p.Asp575Asn)
|
rs139368531
|
0.00061
|
NM_000554.6(CRX):c.28C>G (p.His10Asp)
|
rs139340178
|
0.00060
|
NM_001448.3(GPC4):c.772C>T (p.Arg258Trp)
|
rs199910189
|
0.00060
|
NM_004168.4(SDHA):c.133G>A (p.Ala45Thr)
|
rs140736646
|
0.00060
|
NM_005422.4(TECTA):c.2444C>T (p.Thr815Met)
|
rs111759871
|
0.00060
|
NM_000535.7(PMS2):c.86G>C (p.Gly29Ala)
|
rs146176004
|
0.00059
|
NM_000208.4(INSR):c.1550A>G (p.Glu517Gly)
|
rs147671523
|
0.00058
|
NM_016239.4(MYO15A):c.7984C>G (p.Leu2662Val)
|
rs200930743
|
0.00058
|
NM_001009944.3(PKD1):c.7429C>T (p.Arg2477Cys)
|
rs376283361
|
0.00057
|
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser)
|
rs192766485
|
0.00057
|
NM_000057.4(BLM):c.968A>G (p.Lys323Arg)
|
rs146504061
|
0.00056
|
NM_001365536.1(SCN9A):c.3002A>G (p.Tyr1001Cys)
|
rs199692186
|
0.00056
|
NM_004706.4(ARHGEF1):c.-17C>T
|
rs545895111
|
0.00056
|
NM_005544.3(IRS1):c.3406G>A (p.Glu1136Lys)
|
rs200142054
|
0.00056
|
NM_007194.4(CHEK2):c.793-11G>A
|
rs5997387
|
0.00054
|
NM_001009944.3(PKD1):c.11356G>C (p.Glu3786Gln)
|
rs147992238
|
0.00053
|
NM_133379.5(TTN):c.14812A>G (p.Met4938Val)
|
rs145581345
|
0.00053
|
NM_174916.3(UBR1):c.3290C>T (p.Thr1097Met)
|
rs142285781
|
0.00053
|
NM_000388.4(CASR):c.1192G>A (p.Asp398Asn)
|
rs201177696
|
0.00052
|
NM_002585.4(PBX1):c.92G>T (p.Gly31Val)
|
rs192264696
|
0.00052
|
NM_000136.3(FANCC):c.934A>G (p.Ile312Val)
|
rs1800366
|
0.00051
|
NM_000369.5(TSHR):c.463A>T (p.Ile155Leu)
|
rs141293178
|
0.00051
|
NM_003738.5(PTCH2):c.1993C>T (p.Arg665Cys)
|
rs138324984
|
0.00051
|
NM_004933.3(CDH15):c.365C>T (p.Ala122Val)
|
rs121434541
|
0.00051
|
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys)
|
rs77130927
|
0.00051
|
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu)
|
rs45496496
|
0.00050
|
NM_000497.4(CYP11B1):c.29G>A (p.Cys10Tyr)
|
rs6405
|
0.00049
|
NM_005529.7(HSPG2):c.11072C>T (p.Thr3691Ile)
|
rs149159881
|
0.00049
|
NM_006231.4(POLE):c.4730A>C (p.Glu1577Ala)
|
rs5744948
|
0.00049
|
NM_000179.3(MSH6):c.2667G>T (p.Gln889His)
|
rs149945495
|
0.00048
|
NM_016239.4(MYO15A):c.3203G>T (p.Cys1068Phe)
|
rs189061214
|
0.00047
|
NM_001457.4(FLNB):c.4495G>A (p.Asp1499Asn)
|
rs150445941
|
0.00046
|
NM_006231.4(POLE):c.1337G>A (p.Arg446Gln)
|
rs151273553
|
0.00046
|
NM_207361.6(FREM2):c.4960A>C (p.Ser1654Arg)
|
rs114595447
|
0.00046
|
NM_001009944.3(PKD1):c.10654G>T (p.Ala3552Ser)
|
rs141670808
|
0.00045
|
NM_002691.4(POLD1):c.2052G>C (p.Gln684His)
|
rs144143245
|
0.00045
|
NM_003467.3(CXCR4):c.157A>C (p.Ile53Leu)
|
rs56400844
|
0.00045
|
NM_016204.4(GDF2):c.871G>A (p.Gly291Ser)
|
rs201711410
|
0.00045
|
NM_000375.3(UROS):c.22G>A (p.Asp8Asn)
|
rs558929395
|
0.00044
|
NM_022124.6(CDH23):c.5038G>A (p.Val1680Ile)
|
rs201364852
|
0.00044
|
NM_177438.3(DICER1):c.4206+11_4206+13del
|
rs752585711
|
0.00043
|
NM_005562.3(LAMC2):c.599C>A (p.Ala200Glu)
|
rs138266625
|
0.00042
|
NM_023110.3(FGFR1):c.899T>C (p.Ile300Thr)
|
rs121909633
|
0.00042
|
NM_173477.5(USH1G):c.837C>G (p.Asp279Glu)
|
rs142486910
|
0.00042
|
NM_001384474.1(LOXHD1):c.722A>G (p.Asn241Ser)
|
rs191697915
|
0.00041
|
NM_020117.11(LARS1):c.1369C>T (p.Arg457Trp)
|
rs151245897
|
0.00041
|
NM_152703.5(SAMD9L):c.2069G>A (p.Gly690Asp)
|
rs147903234
|
0.00041
|
NM_000249.4(MLH1):c.198C>T (p.Thr66=)
|
rs61751642
|
0.00040
|
NM_000190.4(HMBS):c.1075G>A (p.Asp359Asn)
|
rs144949995
|
0.00039
|
NM_007294.4(BRCA1):c.301+146A>C
|
rs571713225
|
0.00039
|
NM_014915.3(ANKRD26):c.679C>T (p.Pro227Ser)
|
rs201638257
|
0.00039
|
NM_024408.4(NOTCH2):c.1804G>A (p.Ala602Thr)
|
rs140311741
|
0.00039
|
NM_182476.3(COQ6):c.449A>G (p.His150Arg)
|
rs144880038
|
0.00039
|
NM_001377265.1(MAPT):c.889C>A (p.Arg297Ser)
|
rs150983093
|
0.00038
|
NM_005591.4(MRE11):c.1727G>A (p.Arg576Gln)
|
rs139461096
|
0.00038
|
NM_019066.5(MAGEL2):c.41C>A (p.Pro14Gln)
|
rs769643348
|
0.00038
|
NM_001005271.3(CHD3):c.251C>T (p.Pro84Leu)
|
rs766660828
|
0.00037
|
NM_001039141.3(TRIOBP):c.709C>T (p.Arg237Trp)
|
rs144995033
|
0.00037
|
NM_003620.4(PPM1D):c.131C>G (p.Ser44Trp)
|
rs373862041
|
0.00037
|
NM_003977.4(AIP):c.26G>A (p.Arg9Gln)
|
rs139459091
|
0.00037
|
NM_000256.3(MYBPC3):c.3535G>A (p.Glu1179Lys)
|
rs199669878
|
0.00036
|
NM_001184.4(ATR):c.2704T>C (p.Ser902Pro)
|
rs146202702
|
0.00036
|
NM_005199.5(CHRNG):c.507-12G>A
|
rs184423691
|
0.00036
|
NM_016239.4(MYO15A):c.3659G>A (p.Gly1220Glu)
|
rs201689819
|
0.00036
|
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser)
|
rs190598500
|
0.00035
|
NM_001080414.4(CCDC88C):c.4375G>A (p.Asp1459Asn)
|
rs78570354
|
0.00035
|
NM_000222.3(KIT):c.878A>G (p.Asn293Ser)
|
rs137909416
|
0.00034
|
NM_002474.3(MYH11):c.472G>A (p.Ala158Thr)
|
rs375998236
|
0.00034
|
NM_004456.5(EZH2):c.657T>C (p.Pro219=)
|
rs148843424
|
0.00034
|
NM_006231.4(POLE):c.4246G>A (p.Ala1416Thr)
|
rs146711942
|
0.00034
|
NM_014244.5(ADAMTS2):c.3195C>T (p.Gly1065=)
|
rs778572930
|
0.00034
|
NM_021870.3(FGG):c.124G>A (p.Gly42Ser)
|
rs202132393
|
0.00034
|
NM_001145809.2(MYH14):c.1427G>A (p.Arg476His)
|
rs375694189
|
0.00033
|
NM_001288705.3(CSF1R):c.2746G>A (p.Glu916Lys)
|
rs142435467
|
0.00033
|
NM_000719.7(CACNA1C):c.6161A>G (p.Lys2054Arg)
|
rs200588235
|
0.00032
|
NM_016239.4(MYO15A):c.730G>A (p.Asp244Asn)
|
rs199899548
|
0.00032
|
NM_001164508.2(NEB):c.6817A>G (p.Lys2273Glu)
|
rs199700878
|
0.00031
|
NM_001845.6(COL4A1):c.1588C>T (p.Pro530Ser)
|
rs145172612
|
0.00031
|
NM_003126.4(SPTA1):c.3839A>G (p.Asp1280Gly)
|
rs200890386
|
0.00031
|
NM_004260.4(RECQL4):c.2967G>A (p.Met989Ile)
|
rs200018416
|
0.00031
|
NM_005529.7(HSPG2):c.83C>T (p.Ala28Val)
|
rs754643779
|
0.00031
|
NM_014363.6(SACS):c.2580A>G (p.Gln860=)
|
rs41283958
|
0.00031
|
NM_017436.7(A4GALT):c.892G>T (p.Asp298Tyr)
|
rs200414851
|
0.00031
|
NM_001379081.2(FREM1):c.4945A>G (p.Ile1649Val)
|
rs199891537
|
0.00030
|
NM_015294.6(TRIM37):c.1357T>A (p.Leu453Met)
|
rs200578021
|
0.00030
|
NM_005529.7(HSPG2):c.8899G>A (p.Ala2967Thr)
|
rs143274889
|
0.00029
|
NM_133379.5(TTN):c.13364A>G (p.Lys4455Arg)
|
rs142304137
|
0.00029
|
NM_175614.5(NDUFA11):c.138G>A (p.Pro46=)
|
rs138889960
|
0.00029
|
NM_000168.6(GLI3):c.2119C>T (p.Pro707Ser)
|
rs121917716
|
0.00028
|
NM_001267550.2(TTN):c.61409T>C (p.Ile20470Thr)
|
rs202012910
|
0.00027
|
NM_020937.4(FANCM):c.4366C>T (p.Arg1456Cys)
|
rs200360968
|
0.00027
|
NM_000051.4(ATM):c.4362A>C (p.Lys1454Asn)
|
rs148993589
|
0.00026
|
NM_000539.3(RHO):c.919A>T (p.Ile307Phe)
|
rs771322615
|
0.00026
|
NM_003482.4(KMT2D):c.6437C>T (p.Pro2146Leu)
|
rs563981206
|
0.00026
|
NM_006496.4(GNAI3):c.509C>T (p.Thr170Ile)
|
rs61754626
|
0.00026
|
NM_021930.6(RINT1):c.782C>T (p.Pro261Leu)
|
rs199535472
|
0.00026
|
NM_001077653.2(TBX20):c.414G>A (p.Ser138=)
|
rs144597480
|
0.00025
|
NM_001851.6(COL9A1):c.1634G>A (p.Arg545His)
|
rs145698301
|
0.00025
|
NM_005529.7(HSPG2):c.5297C>T (p.Ala1766Val)
|
rs139794766
|
0.00025
|
NM_000038.6(APC):c.5274T>A (p.Ser1758=)
|
rs199600387
|
0.00024
|
NM_000350.3(ABCA4):c.3758C>T (p.Thr1253Met)
|
rs61752424
|
0.00024
|
NM_005373.3(MPL):c.549G>A (p.Thr183=)
|
rs147130173
|
0.00024
|
NM_007294.4(BRCA1):c.3929C>A (p.Thr1310Lys)
|
rs80357257
|
0.00024
|
NM_133379.5(TTN):c.15302A>G (p.Glu5101Gly)
|
rs142973956
|
0.00024
|
NM_000190.4(HMBS):c.380C>A (p.Pro127Gln)
|
rs200998739
|
0.00023
|
NM_001457.4(FLNB):c.4966G>C (p.Asp1656His)
|
rs574654024
|
0.00023
|
NM_016006.6(ABHD5):c.26A>G (p.Asp9Gly)
|
rs144420157
|
0.00023
|
NM_000251.3(MSH2):c.1787A>G (p.Asn596Ser)
|
rs41295288
|
0.00022
|
NM_004360.5(CDH1):c.1018A>G (p.Thr340Ala)
|
rs116093741
|
0.00022
|
NM_005228.5(EGFR):c.844G>A (p.Glu282Lys)
|
rs199796955
|
0.00022
|
NM_006019.4(TCIRG1):c.2445C>T (p.Gly815=)
|
rs150788130
|
0.00022
|
NM_053025.4(MYLK):c.5477C>T (p.Ala1826Val)
|
rs147187907
|
0.00022
|
NM_000094.4(COL7A1):c.923T>C (p.Ile308Thr)
|
rs145738101
|
0.00021
|
NM_000330.4(RS1):c.264G>C (p.Gln88His)
|
rs201680258
|
0.00021
|
NM_004525.3(LRP2):c.6130G>A (p.Ala2044Thr)
|
rs142266106
|
0.00021
|
NM_014244.5(ADAMTS2):c.3154T>G (p.Ser1052Ala)
|
rs201390756
|
0.00021
|
NM_020937.4(FANCM):c.5108A>G (p.His1703Arg)
|
rs146897650
|
0.00021
|
NM_139027.6(ADAMTS13):c.2545G>A (p.Val849Ile)
|
rs140639242
|
0.00021
|
NM_000249.4(MLH1):c.1166G>A (p.Arg389Gln)
|
rs63750361
|
0.00020
|
NM_004064.5(CDKN1B):c.407A>G (p.Asp136Gly)
|
rs546234840
|
0.00020
|
NM_000051.4(ATM):c.295A>G (p.Ser99Gly)
|
rs137882485
|
0.00019
|
NM_000484.4(APP):c.982C>T (p.Arg328Trp)
|
rs200978018
|
0.00019
|
NM_001853.4(COL9A3):c.481C>T (p.His161Tyr)
|
rs150207068
|
0.00019
|
NM_015330.6(SPECC1L):c.2440G>A (p.Val814Ile)
|
rs139167350
|
0.00019
|
NM_025114.4(CEP290):c.7015C>T (p.Arg2339Trp)
|
rs200969981
|
0.00019
|
NM_000251.3(MSH2):c.1730T>C (p.Ile577Thr)
|
rs63749910
|
0.00018
|
NM_000399.5(EGR2):c.457A>C (p.Thr153Pro)
|
rs202183386
|
0.00018
|
NM_004525.3(LRP2):c.10661G>A (p.Arg3554Gln)
|
rs139257219
|
0.00018
|
NM_006231.4(POLE):c.1597G>A (p.Val533Met)
|
rs374140892
|
0.00018
|
NM_006231.4(POLE):c.6751T>C (p.Phe2251Leu)
|
rs373768478
|
0.00018
|
NM_021098.3(CACNA1H):c.1429C>T (p.Arg477Cys)
|
rs376935647
|
0.00018
|
NM_201384.3(PLEC):c.6416G>A (p.Arg2139His)
|
rs372652727
|
0.00018
|
NM_000179.3(MSH6):c.867C>A (p.Gly289=)
|
rs267608047
|
0.00017
|
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met)
|
rs587780046
|
0.00017
|
NM_001244926.2(PRPF4):c.739A>G (p.Thr247Ala)
|
rs563764064
|
0.00017
|
NM_003098.3(SNTA1):c.430T>G (p.Ser144Ala)
|
rs142978180
|
0.00017
|
NM_170665.4(ATP2A2):c.1096A>G (p.Met366Val)
|
rs199776454
|
0.00017
|
NM_001267550.2(TTN):c.12145C>T (p.Pro4049Ser)
|
rs201888760
|
0.00016
|
NM_001267550.2(TTN):c.63626G>A (p.Arg21209Gln)
|
rs148684589
|
0.00016
|
NM_003560.4(PLA2G6):c.564C>T (p.Thr188=)
|
rs185396488
|
0.00016
|
NM_005996.4(TBX3):c.1080G>C (p.Glu360Asp)
|
rs376189812
|
0.00016
|
NM_022455.5(NSD1):c.7576C>T (p.Pro2526Ser)
|
rs373932824
|
0.00016
|
NM_080916.3(DGUOK):c.366G>C (p.Gln122His)
|
rs199645258
|
0.00016
|
NM_000540.3(RYR1):c.7902C>A (p.Asn2634Lys)
|
rs148041292
|
0.00015
|
NM_001199138.2(NLRC4):c.928C>T (p.Arg310Ter)
|
rs199475953
|
0.00015
|
NM_000179.3(MSH6):c.884A>G (p.Lys295Arg)
|
rs267608051
|
0.00014
|
NM_000249.4(MLH1):c.2001C>T (p.Asp667=)
|
rs63750014
|
0.00014
|
NM_001164508.2(NEB):c.7342C>T (p.Arg2448Cys)
|
rs576076237
|
0.00014
|
NM_001845.6(COL4A1):c.4845G>A (p.Glu1615=)
|
rs142326550
|
0.00014
|
NM_006231.4(POLE):c.4237G>A (p.Glu1413Lys)
|
rs372901803
|
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_133259.4(LRPPRC):c.2569A>G (p.Arg857Gly)
|
rs200138144
|
0.00014
|
NM_000023.4(SGCA):c.328C>T (p.Arg110Trp)
|
rs200137051
|
0.00013
|
NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr)
|
rs45478699
|
0.00013
|
NM_000435.3(NOTCH3):c.6061G>A (p.Val2021Met)
|
rs199620476
|
0.00013
|
NM_004656.4(BAP1):c.1735G>A (p.Gly579Arg)
|
rs370004702
|
0.00013
|
NM_017780.4(CHD7):c.3973T>C (p.Tyr1325His)
|
rs377535841
|
0.00013
|
NM_000179.3(MSH6):c.1081C>T (p.Arg361Cys)
|
rs587782651
|
0.00012
|
NM_000297.4(PKD2):c.9C>T (p.Asn3=)
|
rs773343245
|
0.00012
|
NM_001184880.2(PCDH19):c.1330A>G (p.Thr444Ala)
|
rs201671718
|
0.00012
|
NM_003072.5(SMARCA4):c.403C>G (p.Pro135Ala)
|
rs150949949
|
0.00012
|
NM_018263.6(ASXL2):c.13G>A (p.Gly5Arg)
|
rs371056638
|
0.00012
|
NM_152564.5(VPS13B):c.5884G>T (p.Val1962Leu)
|
rs375399419
|
0.00012
|
NM_000038.6(APC):c.7621A>G (p.Ile2541Val)
|
rs587778033
|
0.00011
|
NM_000053.4(ATP7B):c.3396C>T (p.Ser1132=)
|
rs370947152
|
0.00011
|
NM_000094.4(COL7A1):c.4859G>A (p.Arg1620Gln)
|
rs373682717
|
0.00011
|
NM_000251.3(MSH2):c.1461C>G (p.Asp487Glu)
|
rs35107951
|
0.00011
|
NM_000393.5(COL5A2):c.1292A>G (p.Lys431Arg)
|
rs144602736
|
0.00011
|
NM_000435.3(NOTCH3):c.6809C>T (p.Thr2270Met)
|
rs148716935
|
0.00011
|
NM_002485.5(NBN):c.1035C>T (p.Gly345=)
|
rs146605798
|
0.00011
|
NM_004625.4(WNT7A):c.470G>A (p.Arg157His)
|
rs199592697
|
0.00011
|
NM_004839.4(HOMER2):c.89A>G (p.Gln30Arg)
|
rs189123186
|
0.00011
|
NM_020320.5(RARS2):c.1366C>T (p.Arg456Cys)
|
rs147844153
|
0.00011
|
NM_022081.6(HPS4):c.922A>G (p.Thr308Ala)
|
rs150057646
|
0.00011
|
NM_032119.4(ADGRV1):c.12919G>A (p.Gly4307Arg)
|
rs190628299
|
0.00011
|
NM_032581.4(HYCC1):c.19G>C (p.Gly7Arg)
|
rs370072584
|
0.00011
|
NM_152703.5(SAMD9L):c.208C>T (p.Arg70Cys)
|
rs372301151
|
0.00011
|
NM_175053.4(KRT74):c.143G>A (p.Arg48Gln)
|
rs759304994
|
0.00011
|
NM_000038.6(APC):c.4918C>T (p.Arg1640Trp)
|
rs373440614
|
0.00010
|
NM_000179.3(MSH6):c.3788G>A (p.Arg1263His)
|
rs147852216
|
0.00010
|
NM_000264.5(PTCH1):c.324A>G (p.Ile108Met)
|
rs144182921
|
0.00010
|
NM_000745.4(CHRNA5):c.713C>T (p.Pro238Leu)
|
rs61742337
|
0.00010
|
NM_001267550.2(TTN):c.89018G>A (p.Arg29673Gln)
|
rs200639218
|
0.00010
|
NM_003280.3(TNNC1):c.210C>T (p.Gly70=)
|
rs141505676
|
0.00010
|
NM_015046.7(SETX):c.1504C>T (p.Arg502Trp)
|
rs534723946
|
0.00010
|
NM_024685.4(BBS10):c.1590A>C (p.Arg530Ser)
|
rs146812823
|
0.00010
|
NM_201384.3(PLEC):c.2416C>T (p.Arg806Cys)
|
rs372400636
|
0.00010
|
NM_000059.4(BRCA2):c.2233A>G (p.Lys745Glu)
|
rs374691587
|
0.00009
|
NM_000124.4(ERCC6):c.879A>T (p.Arg293Ser)
|
rs563356062
|
0.00009
|
NM_000222.3(KIT):c.1694G>T (p.Gly565Val)
|
rs200945282
|
0.00009
|
NM_001164508.2(NEB):c.13204A>G (p.Ser4402Gly)
|
rs1475846023
|
0.00009
|
NM_001267550.2(TTN):c.72802C>T (p.Arg24268Cys)
|
rs370474301
|
0.00009
|
NM_001845.6(COL4A1):c.2285T>C (p.Val762Ala)
|
rs374930028
|
0.00009
|
NM_007118.4(TRIO):c.8824C>G (p.Gln2942Glu)
|
rs377248579
|
0.00009
|
NM_015909.4(NBAS):c.1438T>C (p.Ser480Pro)
|
rs140555177
|
0.00009
|
NM_000059.4(BRCA2):c.506A>G (p.Lys169Arg)
|
rs80358730
|
0.00008
|
NM_000059.4(BRCA2):c.9501+3A>T
|
rs61757642
|
0.00008
|
NM_001134407.3(GRIN2A):c.4353A>T (p.Arg1451Ser)
|
rs143693526
|
0.00008
|
NM_006946.4(SPTBN2):c.5383C>G (p.Gln1795Glu)
|
rs144465703
|
0.00008
|
NM_012203.2(GRHPR):c.690C>A (p.Phe230Leu)
|
rs185747820
|
0.00008
|
NM_194248.3(OTOF):c.5623G>A (p.Val1875Met)
|
rs370691004
|
0.00008
|
NM_000123.4(ERCC5):c.48G>A (p.Gln16=)
|
rs202038276
|
0.00007
|
NM_000249.4(MLH1):c.1379A>C (p.Glu460Ala)
|
rs202038499
|
0.00007
|
NM_000535.7(PMS2):c.230A>C (p.Glu77Ala)
|
rs777095030
|
0.00007
|
NM_001110792.2(MECP2):c.1096C>T (p.Arg366Cys)
|
rs143876280
|
0.00007
|
NM_004281.4(BAG3):c.892G>A (p.Val298Met)
|
rs150048651
|
0.00007
|
NM_004360.5(CDH1):c.1297G>A (p.Asp433Asn)
|
rs199886166
|
0.00007
|
NM_007294.4(BRCA1):c.692C>T (p.Thr231Met)
|
rs80357001
|
0.00007
|
NM_017617.5(NOTCH1):c.3853G>A (p.Val1285Met)
|
rs756972680
|
0.00007
|
NM_032383.5(HPS3):c.1773G>A (p.Thr591=)
|
rs559550536
|
0.00007
|
NM_177438.3(DICER1):c.5276A>G (p.Lys1759Arg)
|
rs144259142
|
0.00007
|
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_000251.3(MSH2):c.499G>C (p.Asp167His)
|
rs63750255
|
0.00006
|
NM_000435.3(NOTCH3):c.2000G>A (p.Gly667Asp)
|
rs370386680
|
0.00006
|
NM_001378615.1(CC2D2A):c.647C>T (p.Ala216Val)
|
rs768733110
|
0.00006
|
NM_001849.4(COL6A2):c.188C>T (p.Thr63Met)
|
rs201094892
|
0.00006
|
NM_002878.4(RAD51D):c.715C>T (p.Arg239Trp)
|
rs770250516
|
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_007294.4(BRCA1):c.2412G>C (p.Gln804His)
|
rs55746541
|
0.00006
|
NM_007294.4(BRCA1):c.3739G>A (p.Val1247Ile)
|
rs80357191
|
0.00006
|
NM_212482.4(FN1):c.3289G>A (p.Glu1097Lys)
|
rs753807100
|
0.00006
|
NM_000038.6(APC):c.7986G>A (p.Glu2662=)
|
rs571645304
|
0.00005
|
NM_000059.4(BRCA2):c.2550A>G (p.Gln850=)
|
rs80359785
|
0.00005
|
NM_000179.3(MSH6):c.2173A>G (p.Ile725Val)
|
rs148898662
|
0.00005
|
NM_000179.3(MSH6):c.3762A>T (p.Glu1254Asp)
|
rs375459388
|
0.00005
|
NM_000249.4(MLH1):c.1153C>T (p.Arg385Cys)
|
rs63750760
|
0.00005
|
NM_000388.4(CASR):c.779A>G (p.Gln260Arg)
|
rs200386687
|
0.00005
|
NM_000447.3(PSEN2):c.208G>A (p.Gly70Arg)
|
rs139972151
|
0.00005
|
NM_001042492.3(NF1):c.1588G>A (p.Val530Ile)
|
rs145191978
|
0.00005
|
NM_001267550.2(TTN):c.64903C>T (p.Arg21635Cys)
|
rs201614524
|
0.00005
|
NM_003265.3(TLR3):c.1585C>T (p.Leu529Phe)
|
rs201222071
|
0.00005
|
NM_006734.4(HIVEP2):c.5846A>G (p.Asn1949Ser)
|
rs376423805
|
0.00005
|
NM_144997.7(FLCN):c.1387T>C (p.Tyr463His)
|
rs770077517
|
0.00005
|
NM_000038.6(APC):c.1549-13A>T
|
rs587781267
|
0.00004
|
NM_000051.4(ATM):c.7592T>C (p.Met2531Thr)
|
rs587781365
|
0.00004
|
NM_000059.4(BRCA2):c.10222A>T (p.Lys3408Ter)
|
rs80358402
|
0.00004
|
NM_000059.4(BRCA2):c.280C>T (p.Pro94Ser)
|
rs80358531
|
0.00004
|
NM_000059.4(BRCA2):c.5869A>G (p.Ile1957Val)
|
rs80358817
|
0.00004
|
NM_000142.5(FGFR3):c.940G>A (p.Ala314Thr)
|
rs748488719
|
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.794G>A (p.Arg265His)
|
rs63751448
|
0.00004
|
NM_001039141.3(TRIOBP):c.7010G>A (p.Arg2337Gln)
|
rs200850285
|
0.00004
|
NM_001042492.3(NF1):c.3484A>G (p.Met1162Val)
|
rs773968270
|
0.00004
|
NM_001048174.2(MUTYH):c.87C>T (p.Asn29=)
|
rs141679570
|
0.00004
|
NM_001085487.3(MYSM1):c.2296C>T (p.Arg766Cys)
|
rs141454457
|
0.00004
|
NM_001170629.2(CHD8):c.5608G>A (p.Asp1870Asn)
|
rs376095447
|
0.00004
|
NM_001457.4(FLNB):c.3767G>A (p.Arg1256Gln)
|
rs148506076
|
0.00004
|
NM_002878.4(RAD51D):c.145-13G>T
|
rs760867838
|
0.00004
|
NM_003722.5(TP63):c.688G>C (p.Val230Leu)
|
rs201466089
|
0.00004
|
NM_007294.4(BRCA1):c.4357+17A>G
|
rs80358180
|
0.00004
|
NM_007294.4(BRCA1):c.4676-8C>G
|
rs80358021
|
0.00004
|
NM_015046.7(SETX):c.6122T>C (p.Ile2041Thr)
|
rs140676924
|
0.00004
|
NM_022114.4(PRDM16):c.171C>T (p.Ser57=)
|
rs369648897
|
0.00004
|
NM_173076.3(ABCA12):c.4873A>G (p.Thr1625Ala)
|
rs553840038
|
0.00004
|
NM_206933.4(USH2A):c.5698T>G (p.Cys1900Gly)
|
rs201026468
|
0.00004
|
NM_207361.6(FREM2):c.8509C>T (p.Pro2837Ser)
|
rs766715445
|
0.00004
|
NM_000038.6(APC):c.1557A>G (p.Leu519=)
|
rs765537673
|
0.00003
|
NM_000038.6(APC):c.5635G>T (p.Ala1879Ser)
|
rs587779799
|
0.00003
|
NM_000179.3(MSH6):c.1822A>G (p.Ile608Val)
|
rs201613780
|
0.00003
|
NM_000179.3(MSH6):c.3173-10C>T
|
rs587780559
|
0.00003
|
NM_000249.4(MLH1):c.1730C>T (p.Ser577Leu)
|
rs56185292
|
0.00003
|
NM_000251.3(MSH2):c.835C>G (p.Leu279Val)
|
rs375351205
|
0.00003
|
NM_000384.3(APOB):c.571A>G (p.Thr191Ala)
|
rs1318040190
|
0.00003
|
NM_000535.7(PMS2):c.2288A>G (p.Glu763Gly)
|
rs587780052
|
0.00003
|
NM_001009944.3(PKD1):c.3605C>T (p.Ala1202Val)
|
rs767834829
|
0.00003
|
NM_001127453.2(GSDME):c.611A>T (p.Asp204Val)
|
rs376564087
|
0.00003
|
NM_001267550.2(TTN):c.15659A>G (p.Asn5220Ser)
|
rs565670799
|
0.00003
|
NM_001267550.2(TTN):c.41406C>T (p.Cys13802=)
|
rs749356221
|
0.00003
|
NM_001267550.2(TTN):c.92750T>C (p.Val30917Ala)
|
rs748545482
|
0.00003
|
NM_001386795.1(DTNA):c.1838C>T (p.Pro613Leu)
|
rs145425478
|
0.00003
|
NM_001394062.1(MACF1):c.21575G>A (p.Arg7192Gln)
|
rs752117651
|
0.00003
|
NM_002878.4(RAD51D):c.878C>T (p.Ala293Val)
|
rs769732230
|
0.00003
|
NM_003999.3(OSMR):c.2538T>A (p.Asn846Lys)
|
rs771864692
|
0.00003
|
NM_004360.5(CDH1):c.1417G>A (p.Val473Ile)
|
rs36087757
|
0.00003
|
NM_007294.4(BRCA1):c.2447A>G (p.His816Arg)
|
rs80357108
|
0.00003
|
NM_016239.4(MYO15A):c.9913G>A (p.Glu3305Lys)
|
rs535441567
|
0.00003
|
NM_032043.3(BRIP1):c.728T>C (p.Ile243Thr)
|
rs587781860
|
0.00003
|
NM_052867.4(NALCN):c.2495A>G (p.Tyr832Cys)
|
rs549182297
|
0.00003
|
NM_194248.3(OTOF):c.40C>T (p.Arg14Trp)
|
rs774530840
|
0.00003
|
NM_000038.6(APC):c.5225G>A (p.Arg1742His)
|
rs199775075
|
0.00002
|
NM_000038.6(APC):c.5363G>A (p.Arg1788His)
|
rs201472075
|
0.00002
|
NM_000051.4(ATM):c.2085G>A (p.Leu695=)
|
rs786202229
|
0.00002
|
NM_000051.4(ATM):c.5753G>C (p.Arg1918Thr)
|
rs148064985
|
0.00002
|
NM_000059.4(BRCA2):c.10202C>T (p.Thr3401Met)
|
rs55853199
|
0.00002
|
NM_000455.5(STK11):c.735C>G (p.Leu245=)
|
rs773147894
|
0.00002
|
NM_000548.5(TSC2):c.3818C>T (p.Ala1273Val)
|
rs749367382
|
0.00002
|
NM_001008537.3(NEXMIF):c.1883G>A (p.Arg628Gln)
|
rs747436946
|
0.00002
|
NM_001365276.2(TNXB):c.7774G>A (p.Gly2592Ser)
|
rs767643312
|
0.00002
|
NM_001371928.1(AHDC1):c.1675G>A (p.Gly559Ser)
|
rs765994795
|
0.00002
|
NM_002485.5(NBN):c.104T>C (p.Ile35Thr)
|
rs587780773
|
0.00002
|
NM_003361.4(UMOD):c.758G>A (p.Gly253Asp)
|
rs760253448
|
0.00002
|
NM_004360.5(CDH1):c.1273G>A (p.Val425Ile)
|
rs570930882
|
0.00002
|
NM_004360.5(CDH1):c.188G>A (p.Arg63Gln)
|
rs587780117
|
0.00002
|
NM_007194.4(CHEK2):c.*5C>T
|
rs587781367
|
0.00002
|
NM_007294.4(BRCA1):c.3636A>G (p.Ser1212=)
|
rs148038877
|
0.00002
|
NM_007294.4(BRCA1):c.4993G>A (p.Val1665Met)
|
rs80357169
|
0.00002
|
NM_007294.4(BRCA1):c.5576C>G (p.Pro1859Arg)
|
rs80357322
|
0.00002
|
NM_032043.3(BRIP1):c.2406C>T (p.Asp802=)
|
rs748981650
|
0.00002
|
NM_032043.3(BRIP1):c.924A>G (p.Lys308=)
|
rs374974885
|
0.00002
|
NM_177438.3(DICER1):c.4199A>G (p.Asp1400Gly)
|
rs139536688
|
0.00002
|
NM_000038.6(APC):c.1596A>G (p.Gln532=)
|
rs1331131200
|
0.00001
|
NM_000038.6(APC):c.5304G>A (p.Lys1768=)
|
rs863224285
|
0.00001
|
NM_000051.4(ATM):c.2630G>C (p.Ser877Thr)
|
rs370269552
|
0.00001
|
NM_000051.4(ATM):c.7502A>G (p.Asn2501Ser)
|
rs531617441
|
0.00001
|
NM_000059.4(BRCA2):c.1466C>G (p.Ser489Cys)
|
rs587782535
|
0.00001
|
NM_000059.4(BRCA2):c.3672C>T (p.Gly1224=)
|
rs587780650
|
0.00001
|
NM_000059.4(BRCA2):c.4436G>C (p.Ser1479Thr)
|
rs80358678
|
0.00001
|
NM_000059.4(BRCA2):c.5390C>G (p.Ala1797Gly)
|
rs80358760
|
0.00001
|
NM_000059.4(BRCA2):c.5729A>T (p.Asn1910Ile)
|
rs276174863
|
0.00001
|
NM_000059.4(BRCA2):c.6458C>T (p.Pro2153Leu)
|
rs276174873
|
0.00001
|
NM_000059.4(BRCA2):c.7436-4A>G
|
rs81002904
|
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.9076C>G (p.Gln3026Glu)
|
rs80359159
|
0.00001
|
NM_000059.4(BRCA2):c.9433G>C (p.Val3145Leu)
|
rs587776476
|
0.00001
|
NM_000094.4(COL7A1):c.3727C>T (p.Arg1243Trp)
|
rs1189017197
|
0.00001
|
NM_000094.4(COL7A1):c.631G>A (p.Val211Ile)
|
rs557797952
|
0.00001
|
NM_000179.3(MSH6):c.3198T>C (p.Tyr1066=)
|
rs199643502
|
0.00001
|
NM_000249.4(MLH1):c.1103C>T (p.Ser368Leu)
|
rs201673334
|
0.00001
|
NM_000249.4(MLH1):c.1401C>T (p.Ser467=)
|
rs587778910
|
0.00001
|
NM_000249.4(MLH1):c.1460G>A (p.Arg487Gln)
|
rs587778917
|
0.00001
|
NM_000249.4(MLH1):c.30G>T (p.Arg10=)
|
rs876660759
|
0.00001
|
NM_000297.4(PKD2):c.361G>T (p.Gly121Cys)
|
rs371898195
|
0.00001
|
NM_000368.5(TSC1):c.1097C>T (p.Pro366Leu)
|
rs763915012
|
0.00001
|
NM_000396.4(CTSK):c.8G>A (p.Gly3Glu)
|
rs202055627
|
0.00001
|
NM_000430.4(PAFAH1B1):c.1130A>G (p.Asn377Ser)
|
rs1167470350
|
0.00001
|
NM_000543.5(SMPD1):c.83C>T (p.Pro28Leu)
|
rs556155962
|
0.00001
|
NM_001098.3(ACO2):c.1550C>T (p.Thr517Met)
|
rs540169523
|
0.00001
|
NM_001142864.4(PIEZO1):c.645C>G (p.His215Gln)
|
rs559847737
|
0.00001
|
NM_001365276.2(TNXB):c.3034G>A (p.Val1012Ile)
|
rs751045102
|
0.00001
|
NM_002447.4(MST1R):c.2464C>G (p.Gln822Glu)
|
rs375573917
|
0.00001
|
NM_002473.6(MYH9):c.4391G>A (p.Arg1464His)
|
rs199968414
|
0.00001
|
NM_002637.4(PHKA1):c.3043C>T (p.Arg1015Cys)
|
rs782191011
|
0.00001
|
NM_002691.4(POLD1):c.2327G>A (p.Arg776Gln)
|
rs141801845
|
0.00001
|
NM_002878.4(RAD51D):c.144+3G>T
|
rs761057565
|
0.00001
|
NM_004357.5(CD151):c.379A>C (p.Lys127Gln)
|
rs559057238
|
0.00001
|
NM_004519.4(KCNQ3):c.35C>T (p.Ala12Val)
|
rs796052672
|
0.00001
|
NM_005670.4(EPM2A):c.822C>T (p.Thr274=)
|
rs763812238
|
0.00001
|
NM_007294.4(BRCA1):c.1081T>C (p.Ser361Pro)
|
rs80356946
|
0.00001
|
NM_007294.4(BRCA1):c.212+4T>C
|
rs398122652
|
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.3707A>G (p.Asn1236Ser)
|
rs863224760
|
0.00001
|
NM_007294.4(BRCA1):c.378A>G (p.Gln126=)
|
rs786201256
|
0.00001
|
NM_007294.4(BRCA1):c.4422T>C (p.Ala1474=)
|
rs756281673
|
0.00001
|
NM_007294.4(BRCA1):c.4485-8C>T
|
rs397507234
|
0.00001
|
NM_007294.4(BRCA1):c.4816A>G (p.Lys1606Glu)
|
rs80356943
|
0.00001
|
NM_007294.4(BRCA1):c.81-17C>G
|
rs757442952
|
0.00001
|
NM_024675.4(PALB2):c.1110G>A (p.Gln370=)
|
rs756002989
|
0.00001
|
NM_173651.4(FSIP2):c.7540T>C (p.Phe2514Leu)
|
rs551594235
|
0.00001
|
NM_206933.4(USH2A):c.7334C>T (p.Ser2445Phe)
|
rs41315579
|
0.00001
|
NM_000038.6(APC):c.423-4del
|
rs730881230
|
|
NM_000038.6(APC):c.532-14_532-12del
|
rs765893314
|
|
NM_000038.6(APC):c.5496T>C (p.Asp1832=)
|
rs1561600562
|
|
NM_000038.6(APC):c.6354TGC[5] (p.Ala2122dup)
|
rs587780602
|
|
NM_000038.6(APC):c.6907G>A (p.Gly2303Arg)
|
rs544549596
|
|
NM_000051.4(ATM):c.186A>G (p.Arg62=)
|
rs876658224
|
|
NM_000051.4(ATM):c.2839-4T>C
|
rs1057522619
|
|
NM_000051.4(ATM):c.6095+6T>C
|
rs1057522992
|
|
NM_000059.4(BRCA2):c.10220A>G (p.Asn3407Ser)
|
rs80358401
|
|
NM_000059.4(BRCA2):c.1462A>C (p.Ile488Leu)
|
rs864622352
|
|
NM_000059.4(BRCA2):c.3578C>T (p.Ala1193Val)
|
rs431825310
|
|
NM_000059.4(BRCA2):c.455C>A (p.Thr152Lys)
|
rs80358691
|
|
NM_000059.4(BRCA2):c.4620C>T (p.Asp1540=)
|
rs1555283875
|
|
NM_000059.4(BRCA2):c.631+7A>G
|
rs431825339
|
|
NM_000059.4(BRCA2):c.7563C>A (p.Ile2521=)
|
rs786204282
|
|
NM_000059.4(BRCA2):c.7618-21G>T
|
rs376957350
|
|
NM_000059.4(BRCA2):c.7618-6G>T
|
rs1057520251
|
|
NM_000059.4(BRCA2):c.956A>G (p.Asn319Ser)
|
rs55939572
|
|
NM_000059.4(BRCA2):c.9649-6dup
|
rs276174929
|
|
NM_000077.5(CDKN2A):c.370C>T (p.Arg124Cys)
|
rs34170727
|
|
NM_000082.4(ERCC8):c.550+15T>C
|
rs1748965740
|
|
NM_000092.5(COL4A4):c.4760C>G (p.Pro1587Arg)
|
rs190148408
|
|
NM_000094.4(COL7A1):c.724G>A (p.Glu242Lys)
|
rs549872555
|
|
NM_000094.4(COL7A1):c.8539C>T (p.Pro2847Ser)
|
rs140041143
|
|
NM_000135.4(FANCA):c.377C>G (p.Thr126Arg)
|
rs139160837
|
|
NM_000179.3(MSH6):c.3456A>G (p.Val1152=)
|
rs750998416
|
|
NM_000179.3(MSH6):c.3557-4del
|
rs267608102
|
|
NM_000179.3(MSH6):c.4001+4_4001+8dup
|
rs587782853
|
|
NM_000213.5(ITGB4):c.599C>T (p.Pro200Leu)
|
rs148770294
|
|
NM_000249.4(MLH1):c.*32CTT[1]
|
rs193922366
|
|
NM_000249.4(MLH1):c.1266C>T (p.Gly422=)
|
rs63750791
|
|
NM_000249.4(MLH1):c.1853A>C (p.Lys618Thr)
|
rs63750449
|
|
NM_000249.4(MLH1):c.290A>G (p.Tyr97Cys)
|
rs773647920
|
|
NM_000251.3(MSH2):c.212-4del
|
rs746333570
|
|
NM_000251.3(MSH2):c.2580G>T (p.Ser860=)
|
rs752428475
|
|
NM_000251.3(MSH2):c.2714C>T (p.Thr905Ile)
|
rs267608022
|
|
NM_000257.4(MYH7):c.3337-4dup
|
rs45504498
|
|
NM_000301.5(PLG):c.185+14C>A
|
rs369616302
|
|
NM_000313.4(PROS1):c.1501T>C (p.Ser501Pro)
|
rs121918472
|
|
NM_000314.8(PTEN):c.210-7_210-3del
|
rs587780544
|
|
NM_000342.4(SLC4A1):c.286C>T (p.Arg96Cys)
|
rs538778224
|
|
NM_000375.3(UROS):c.512T>C (p.Val171Ala)
|
rs17173752
|
|
NM_000384.3(APOB):c.10913G>A (p.Arg3638Gln)
|
|
|
NM_000384.3(APOB):c.26TGGCGCTGC[1] (p.9LAL[1])
|
|
|
NM_000384.3(APOB):c.293C>T (p.Thr98Ile)
|
|
|
NM_000492.4(CFTR):c.1265C>T (p.Ser422Phe)
|
rs201880593
|
|
NM_000527.5(LDLR):c.1024G>A (p.Asp342Asn)
|
|
|
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln)
|
|
|
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile)
|
rs137853964
|
|
NM_000540.3(RYR1):c.10188C>T (p.Asp3396=)
|
rs2229145
|
|
NM_000545.8(HNF1A):c.-167TGGGGGT[3]
|
rs538476099
|
|
NM_001005361.3(DNM2):c.1782-7C>A
|
rs200843089
|
|
NM_001009944.3(PKD1):c.9889G>A (p.Val3297Met)
|
rs775497330
|
|
NM_001018115.3(FANCD2):c.2022-5C>T
|
rs4019784
|
|
NM_001048174.2(MUTYH):c.116-55C>T
|
rs1316542179
|
|
NM_001104631.2(PDE4D):c.240_254del (p.Leu81_Pro85del)
|
rs755378627
|
|
NM_001128840.3(CACNA1D):c.2751+14G>T
|
rs748663117
|
|
NM_001267550.2(TTN):c.96235G>A (p.Asp32079Asn)
|
rs200540781
|
|
NM_001301071.2(DOK7):c.1499G>A (p.Gly500Glu)
|
rs577616504
|
|
NM_001329.4(CTBP2):c.1218C>A (p.Ile406=)
|
rs796230948
|
|
NM_001844.5(COL2A1):c.3511C>T (p.Pro1171Ser)
|
rs147750391
|
|
NM_002907.4(RECQL):c.644G>T (p.Arg215Leu)
|
rs561515655
|
|
NM_003072.5(SMARCA4):c.722_733del (p.229GP[6])
|
rs568390760
|
|
NM_004333.6(BRAF):c.1789C>T (p.Leu597=)
|
rs121913369
|
|
NM_004360.5(CDH1):c.49-9C>A
|
rs1555509752
|
|
NM_004360.5(CDH1):c.69G>A (p.Gln23=)
|
rs786202657
|
|
NM_004589.4(SCO1):c.16C>G (p.Leu6Val)
|
rs61753148
|
|
NM_004646.4(NPHS1):c.791C>A (p.Pro264Gln)
|
rs34982899
|
|
NM_004795.4(KL):c.2296G>A (p.Gly766Ser)
|
rs114752661
|
|
NM_005359.6(SMAD4):c.746_747delinsCC (p.Gln249Pro)
|
rs587782209
|
|
NM_006231.4(POLE):c.2090C>G (p.Pro697Arg)
|
rs36120395
|
|
NM_007294.4(BRCA1):c.1418A>G (p.Asn473Ser)
|
rs80357057
|
|
NM_007294.4(BRCA1):c.2712A>G (p.Glu904=)
|
rs1057522242
|
|
NM_007294.4(BRCA1):c.305C>G (p.Ala102Gly)
|
rs80357190
|
|
NM_007294.4(BRCA1):c.3328_3330del (p.Lys1110del)
|
rs80358335
|
|
NM_007294.4(BRCA1):c.3600G>T (p.Gln1200His)
|
rs56214134
|
|
NM_007294.4(BRCA1):c.5332+20C>A
|
rs1057521961
|
|
NM_007294.4(BRCA1):c.669G>A (p.Lys223=)
|
rs1131692066
|
|
NM_007294.4(BRCA1):c.66A>G (p.Leu22=)
|
rs786202533
|
|
NM_014000.3(VCL):c.2862_2864del (p.Leu955del)
|
rs397517237
|
|
NM_014336.5(AIPL1):c.971G>T (p.Arg324Leu)
|
rs150427474
|
|
NM_014363.6(SACS):c.2926C>A (p.Arg976Ser)
|
rs139993038
|
|
NM_014727.3(KMT2B):c.7428C>A (p.Ala2476=)
|
rs368560676
|
|
NM_014989.7(RIMS1):c.1679-20587G>A
|
rs181193740
|
|
NM_014989.7(RIMS1):c.3959C>T (p.Ser1320Phe)
|
rs140943787
|
|
NM_015311.3(OBSL1):c.4951G>T (p.Glu1651Ter)
|
rs140825693
|
|
NM_016341.4(PLCE1):c.1927G>T (p.Ala643Ser)
|
rs61886330
|
|
NM_019098.5(CNGB3):c.2158CAAAAAGAAAATGAAGATAAA[1] (p.720QKENEDK[1])
|
rs746549330
|
|
NM_019109.5(ALG1):c.1292C>A (p.Ala431Glu)
|
rs370439294
|
|
NM_030665.4(RAI1):c.834GCA[7] (p.Gln286_Gln291del)
|
rs371983878
|
|
NM_032043.3(BRIP1):c.1552G>A (p.Val518Ile)
|
rs786201701
|
|
NM_032119.4(ADGRV1):c.13668A>G (p.Thr4556=)
|
rs758546069
|
|
NM_033343.4(LHX4):c.724_726del (p.Lys242del)
|
rs771109452
|
|
NM_138715.3(MSR1):c.877C>T (p.Arg293Ter)
|
rs41341748
|
|
NM_138773.4(SLC25A46):c.938_940dup (p.Tyr313dup)
|
rs374899270
|
|
NM_139076.3(ABRAXAS1):c.7G>C (p.Gly3Arg)
|
rs370520589
|
|
NM_152618.3(BBS12):c.977CTT[2] (p.Ser328del)
|
rs779801356
|
|
NM_172362.3(KCNH1):c.2962G>T (p.Ala988Ser)
|
rs371262198
|
|
NM_178857.6(RP1L1):c.3971A>G (p.Glu1324Gly)
|
rs4240659
|
|
NM_178857.6(RP1L1):c.4018_4019insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAGG (p.Glu1339_Glu1340insGlyThrLysValIleGluGlyLeuGlnGluGluArgValGlnLeuGlu)
|
rs1585963467
|
|
NM_182961.4(SYNE1):c.12585G>A (p.Lys4195=)
|
rs149536991
|
|
NM_182972.3(IRF2BP2):c.864C>T (p.Gly288=)
|
rs768782125
|
|
NM_198681.4(PLEKHG5):c.-120C>T
|
rs201669114
|
|
NM_201384.3(PLEC):c.8506G>A (p.Asp2836Asn)
|
rs200814155
|
|
Single allele
|
|
|