NM_000135.4(FANCA):c.1501G>A (p.Gly501Ser)
|
rs2239359
|
0.51262
|
NM_000135.4(FANCA):c.2426G>A (p.Gly809Asp)
|
rs7195066
|
0.46389
|
NM_021922.3(FANCE):c.1504G>A (p.Ala502Thr)
|
rs9462088
|
0.14730
|
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp)
|
rs1050829
|
0.08672
|
NM_006947.4(SRP72):c.*606A>T
|
rs868279024
|
0.05397
|
NM_000135.4(FANCA):c.542C>T (p.Ala181Val)
|
rs17232246
|
0.04972
|
NM_001063.4(TF):c.829G>A (p.Gly277Ser)
|
rs1799899
|
0.04529
|
NM_000135.4(FANCA):c.24C>G (p.Asn8Lys)
|
rs76275444
|
0.04436
|
NM_001376013.1(EPB41):c.640G>A (p.Val214Ile)
|
rs111642750
|
0.02894
|
NM_000135.4(FANCA):c.3348+18A>G
|
rs1800347
|
0.02828
|
NM_003126.4(SPTA1):c.4453C>T (p.Leu1485Phe)
|
rs34973695
|
0.01729
|
NM_003126.4(SPTA1):c.4490G>A (p.Gly1497Glu)
|
rs41273523
|
0.01332
|
NM_017875.4(SLC25A38):c.-292G>A
|
rs142441701
|
0.01159
|
NM_000136.3(FANCC):c.*96A>G
|
rs55687573
|
0.00893
|
NM_000096.4(CP):c.*509A>C
|
rs13098532
|
0.00867
|
NM_004629.2(FANCG):c.1538G>A (p.Arg513Gln)
|
rs17885240
|
0.00863
|
NM_003126.4(SPTA1):c.6437A>G (p.Gln2146Arg)
|
rs138055271
|
0.00862
|
NM_003126.4(SPTA1):c.1958A>G (p.Tyr653Cys)
|
rs148912436
|
0.00813
|
NM_138477.4(CDAN1):c.-14G>A
|
rs190314153
|
0.00804
|
NM_002113.3(CFHR1):c.19del (p.Ser6_Val7insTer)
|
rs769938205
|
0.00770
|
NM_003126.4(SPTA1):c.3037-14T>C
|
rs142102801
|
0.00723
|
NM_000298.6(PKLR):c.1269+43T>C
|
rs8177982
|
0.00718
|
NM_003126.4(SPTA1):c.1533A>G (p.Ala511=)
|
rs34446973
|
0.00709
|
NM_006363.5(SEC23B):c.-52T>G
|
rs191103191
|
0.00681
|
NM_003126.4(SPTA1):c.3149C>T (p.Pro1050Leu)
|
rs116297260
|
0.00678
|
NM_000298.6(PKLR):c.*893T>G
|
rs41264939
|
0.00637
|
NC_000016.10:g.23641315C>G
|
rs138200248
|
0.00631
|
NM_003126.4(SPTA1):c.1680G>C (p.Leu560=)
|
rs73020251
|
0.00621
|
NM_001114134.2(EPB42):c.1767C>A (p.His589Gln)
|
rs114354377
|
0.00619
|
NM_000518.5(HBB):c.93-23T>C
|
rs111851677
|
0.00593
|
NM_022725.4(FANCF):c.*1879T>C
|
rs45553340
|
0.00575
|
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg)
|
rs17233141
|
0.00567
|
NM_032043.3(BRIP1):c.*3489T>C
|
rs140891191
|
0.00554
|
NM_017875.4(SLC25A38):c.*431G>A
|
rs73058292
|
0.00540
|
NM_006363.5(SEC23B):c.-186G>T
|
rs138178711
|
0.00524
|
NM_000037.4(ANK1):c.-204C>G
|
rs117184692
|
0.00514
|
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe)
|
rs1800361
|
0.00511
|
NM_001113378.2(FANCI):c.976-13A>T
|
rs145864790
|
0.00501
|
NM_003126.4(SPTA1):c.5834-15G>A
|
rs192889943
|
0.00480
|
NM_006657.3(FTCD):c.*15C>A
|
rs114980528
|
0.00458
|
NM_003126.4(SPTA1):c.3160A>T (p.Thr1054Ser)
|
rs145054175
|
0.00453
|
NM_003126.4(SPTA1):c.6850G>A (p.Asp2284Asn)
|
rs138732899
|
0.00433
|
NM_000617.3(SLC11A2):c.*1058G>A
|
rs41398049
|
0.00427
|
NM_003126.4(SPTA1):c.1078A>T (p.Thr360Ser)
|
rs34133563
|
0.00424
|
NM_003126.4(SPTA1):c.3398G>C (p.Arg1133Pro)
|
rs35733059
|
0.00420
|
NM_000298.6(PKLR):c.1516G>A (p.Val506Ile)
|
rs8177988
|
0.00414
|
NM_000375.3(UROS):c.63+8G>A
|
rs17153575
|
0.00410
|
NM_003126.4(SPTA1):c.1600-10A>G
|
rs148156245
|
0.00410
|
NM_003126.4(SPTA1):c.*68C>G
|
rs186892978
|
0.00406
|
NM_017875.4(SLC25A38):c.239C>G (p.Thr80Arg)
|
rs144149294
|
0.00385
|
NM_003126.4(SPTA1):c.5911G>A (p.Asp1971Asn)
|
rs116466258
|
0.00367
|
NM_006996.2(SLC19A2):c.-196C>A
|
rs72542444
|
0.00366
|
NM_032043.3(BRIP1):c.517C>T (p.Arg173Cys)
|
rs4988345
|
0.00363
|
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp)
|
rs17227403
|
0.00362
|
NM_032043.3(BRIP1):c.*4040T>A
|
rs111580456
|
0.00356
|
NM_000373.4(UMPS):c.88A>G (p.Ser30Gly)
|
rs17843776
|
0.00350
|
NM_000289.6(PFKM):c.*411G>A
|
rs79507126
|
0.00345
|
NC_000012.12:g.6867505T>G
|
rs1800202
|
0.00329
|
NM_000373.4(UMPS):c.*868del
|
rs570945751
|
0.00329
|
NM_000135.4(FANCA):c.623C>T (p.Ser208Leu)
|
rs144420697
|
0.00325
|
NM_022725.4(FANCF):c.*708C>T
|
rs61889392
|
0.00321
|
NC_000011.10:g.5227154C>T
|
rs72561473
|
0.00312
|
NM_002693.3(POLG):c.3644-72C>A
|
rs1801377
|
0.00312
|
NM_003126.4(SPTA1):c.679G>A (p.Glu227Lys)
|
rs199598260
|
0.00310
|
NM_003126.4(SPTA1):c.793A>G (p.Asn265Asp)
|
rs183647059
|
0.00307
|
NM_000119.2(EPB42):c.*82G>A
|
rs148274379
|
0.00299
|
NM_021922.3(FANCE):c.1510-11C>T
|
rs189384185
|
0.00297
|
NM_003126.4(SPTA1):c.1731G>T (p.Leu577Phe)
|
rs34211240
|
0.00291
|
NM_001114134.2(EPB42):c.1279C>T (p.Arg427Cys)
|
rs45594632
|
0.00285
|
NM_000518.5(HBB):c.*96T>C
|
rs34029390
|
0.00283
|
NM_001113378.2(FANCI):c.1573A>G (p.Met525Val)
|
rs144908351
|
0.00282
|
NM_032043.3(BRIP1):c.*128A>G
|
rs150444311
|
0.00277
|
NM_000136.3(FANCC):c.584A>T (p.Asp195Val)
|
rs1800365
|
0.00275
|
NM_001243177.4(ALDOA):c.*136C>T
|
rs191226606
|
0.00274
|
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp)
|
rs116100695
|
0.00270
|
NM_000298.6(PKLR):c.829G>A (p.Glu277Lys)
|
rs147689373
|
0.00269
|
NM_001114134.2(EPB42):c.256G>T (p.Asp86Tyr)
|
rs113768282
|
0.00268
|
NM_003126.4(SPTA1):c.5838T>C (p.Asp1946=)
|
rs200330662
|
0.00264
|
NM_000136.3(FANCC):c.-225C>T
|
rs182633348
|
0.00262
|
NM_017875.4(SLC25A38):c.*304C>T
|
rs113251543
|
0.00262
|
NM_003126.4(SPTA1):c.1817A>G (p.Asp606Gly)
|
rs149441716
|
0.00259
|
NM_000373.4(UMPS):c.*4623C>T
|
rs75775614
|
0.00257
|
NM_001243177.4(ALDOA):c.1201G>A (p.Gly401Ser)
|
rs138824667
|
0.00256
|
NM_003126.4(SPTA1):c.798A>G (p.Leu266=)
|
rs36058424
|
0.00250
|
NM_003126.4(SPTA1):c.3230G>A (p.Arg1077His)
|
rs199612744
|
0.00249
|
NM_003126.4(SPTA1):c.4302G>A (p.Lys1434=)
|
rs77182042
|
0.00243
|
NM_000384.3(APOB):c.3843C>T (p.Ser1281=)
|
rs72653079
|
0.00240
|
NM_000136.3(FANCC):c.1156T>C (p.Ser386Pro)
|
rs41281202
|
0.00236
|
NM_080669.6(SLC46A1):c.*4729del
|
rs559270240
|
0.00232
|
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser)
|
rs139235751
|
0.00230
|
NM_001081.4(CUBN):c.6125-2A>G
|
rs75386064
|
0.00226
|
NM_001018115.3(FANCD2):c.4281+398G>C
|
rs34092072
|
0.00225
|
NM_001114134.2(EPB42):c.894C>T (p.Thr298=)
|
rs35719500
|
0.00225
|
NM_138477.4(CDAN1):c.2542-4C>G
|
rs147426809
|
0.00225
|
NM_000136.3(FANCC):c.*450G>A
|
rs149227790
|
0.00224
|
NM_021922.3(FANCE):c.1310T>C (p.Met437Thr)
|
rs142903218
|
0.00221
|
NM_001083116.3(PRF1):c.10C>T (p.Arg4Cys)
|
rs12161733
|
0.00220
|
NM_000135.4(FANCA):c.3514-4A>G
|
rs149388130
|
0.00219
|
NM_005236.3(ERCC4):c.1812-5T>C
|
rs2020952
|
0.00215
|
NM_021922.3(FANCE):c.253C>T (p.Pro85Ser)
|
rs145068586
|
0.00212
|
NM_001386140.1(MTTP):c.*382T>C
|
rs556994625
|
0.00210
|
NM_000037.4(ANK1):c.*8C>A
|
rs146341756
|
0.00209
|
NM_000136.3(FANCC):c.*2524G>A
|
rs56199232
|
0.00208
|
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser)
|
rs147241704
|
0.00207
|
NM_001114134.2(EPB42):c.453T>C (p.Asn151=)
|
rs114136713
|
0.00205
|
NM_001243177.4(ALDOA):c.274+4C>T
|
rs200278984
|
0.00204
|
NM_000355.4(TCN2):c.64+11C>T
|
rs141519384
|
0.00203
|
NM_000175.5(GPI):c.907A>C (p.Met303Leu)
|
rs143733383
|
0.00202
|
NC_000012.12:g.6867486C>T
|
rs781949460
|
0.00200
|
NM_001081.4(CUBN):c.6225G>A (p.Ser2075=)
|
rs75737363
|
0.00192
|
NM_005236.3(ERCC4):c.2117T>C (p.Ile706Thr)
|
rs1800069
|
0.00190
|
NM_000032.5(ALAS2):c.1757A>T (p.Tyr586Phe)
|
rs139596860
|
0.00189
|
NM_000096.4(CP):c.2571C>T (p.Tyr857=)
|
rs151304828
|
0.00189
|
NM_000135.4(FANCA):c.694A>C (p.Arg232=)
|
rs61757384
|
0.00184
|
NM_003126.4(SPTA1):c.1181A>G (p.Asn394Ser)
|
rs111834376
|
0.00181
|
NM_015702.3(MMADHC):c.646C>G (p.Arg216Gly)
|
rs141093638
|
0.00181
|
NM_025215.5(PUS1):c.-453C>T
|
rs551126678
|
0.00180
|
NM_000373.4(UMPS):c.*1517C>A
|
rs74477033
|
0.00179
|
NM_080669.6(SLC46A1):c.*1795C>T
|
rs200529579
|
0.00177
|
NM_000135.4(FANCA):c.4303G>A (p.Ala1435Thr)
|
rs74977201
|
0.00176
|
NM_004629.2(FANCG):c.1638T>C (p.Gly546=)
|
rs45537335
|
0.00175
|
NM_000096.4(CP):c.*1081T>A
|
rs188137938
|
0.00174
|
NM_002693.3(POLG):c.3644-184T>C
|
rs115758754
|
0.00173
|
NM_000037.4(ANK1):c.2830G>A (p.Ala944Thr)
|
rs35797405
|
0.00170
|
NM_080669.6(SLC46A1):c.*2724G>C
|
rs139343092
|
0.00170
|
NM_003126.4(SPTA1):c.748C>T (p.Arg250Cys)
|
rs143459302
|
0.00169
|
NM_001081.4(CUBN):c.10119C>A (p.Val3373=)
|
rs139596037
|
0.00168
|
NM_000298.6(PKLR):c.*14C>T
|
rs8177994
|
0.00166
|
NM_000373.4(UMPS):c.*4511G>A
|
rs569255721
|
0.00165
|
NM_000135.4(FANCA):c.1471-12A>G
|
rs9282684
|
0.00163
|
NM_000298.6(PKLR):c.814C>G (p.Leu272Val)
|
rs147659527
|
0.00163
|
NM_005050.4(ABCD4):c.1411C>T (p.Arg471Trp)
|
rs45568335
|
0.00163
|
NM_080669.6(SLC46A1):c.*4661G>A
|
rs575926704
|
0.00163
|
NM_000096.4(CP):c.*40C>T
|
rs112764171
|
0.00162
|
NM_000096.4(CP):c.2684G>C (p.Gly895Ala)
|
rs139633388
|
0.00162
|
NM_000289.5(PFKM):c.-177G>C
|
rs78512814
|
0.00162
|
NM_001374504.1(TMPRSS6):c.457C>T (p.Arg153Cys)
|
rs116092750
|
0.00162
|
NM_003126.4(SPTA1):c.7104G>T (p.Lys2368Asn)
|
rs112884419
|
0.00161
|
NM_001081.4(CUBN):c.*436C>A
|
rs574512019
|
0.00159
|
NM_003126.4(SPTA1):c.5118C>T (p.His1706=)
|
rs200945419
|
0.00159
|
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys)
|
rs4987046
|
0.00158
|
NM_001113378.2(FANCI):c.2487T>G (p.Leu829=)
|
rs145762491
|
0.00155
|
NM_001114134.2(EPB42):c.430+12C>T
|
rs185794093
|
0.00155
|
NM_022725.4(FANCF):c.*1440A>G
|
rs191742011
|
0.00155
|
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro)
|
rs76723693
|
0.00154
|
NM_006947.4(SRP72):c.*221A>G
|
rs149250989
|
0.00152
|
NM_001374504.1(TMPRSS6):c.212C>T (p.Ala71Val)
|
rs139563689
|
0.00151
|
NM_017875.4(SLC25A38):c.11A>G (p.Asn4Ser)
|
rs61995897
|
0.00151
|
NM_000355.4(TCN2):c.-98T>G
|
rs370882214
|
0.00150
|
NM_001355436.2(SPTB):c.5651C>T (p.Ala1884Val)
|
rs148337824
|
0.00150
|
NM_005050.4(ABCD4):c.751C>T (p.Arg251Cys)
|
rs141868117
|
0.00150
|
NM_000355.4(TCN2):c.138C>T (p.Ser46=)
|
rs143250551
|
0.00148
|
NM_005142.3(CBLIF):c.154T>A (p.Tyr52Asn)
|
rs144916324
|
0.00148
|
NM_020207.7(ERCC6L2):c.163T>G (p.Leu55Val)
|
rs141719745
|
0.00148
|
NM_000136.3(FANCC):c.*1483T>C
|
rs552548603
|
0.00146
|
NM_003126.4(SPTA1):c.*387T>C
|
rs549664412
|
0.00146
|
NM_000617.3(SLC11A2):c.504A>G (p.Ser168=)
|
rs145155499
|
0.00145
|
NM_138477.4(CDAN1):c.*722G>A
|
rs528323093
|
0.00145
|
NM_001355436.2(SPTB):c.3679C>T (p.Pro1227Ser)
|
rs149186357
|
0.00141
|
NM_001386140.1(MTTP):c.2433G>C (p.Leu811Phe)
|
rs144590904
|
0.00141
|
NM_024675.4(PALB2):c.*232G>T
|
rs180748355
|
0.00141
|
NM_032444.4(SLX4):c.4024A>G (p.Ser1342Gly)
|
rs140051968
|
0.00141
|
NC_000019.10:g.34364916G>A
|
rs549433538
|
0.00139
|
NM_017875.4(SLC25A38):c.525G>C (p.Arg175=)
|
rs149992222
|
0.00139
|
NM_004629.2(FANCG):c.20C>T (p.Ser7Phe)
|
rs35984312
|
0.00138
|
NM_001040436.3(YARS2):c.*126_*127del
|
rs141873255
|
0.00137
|
NM_003126.4(SPTA1):c.5378G>A (p.Arg1793Gln)
|
rs200938874
|
0.00136
|
NM_000355.4(TCN2):c.296A>C (p.Lys99Thr)
|
rs150225103
|
0.00135
|
NM_006996.3(SLC19A2):c.*1246T>G
|
rs181914254
|
0.00135
|
NM_000355.4(TCN2):c.428-4T>C
|
rs201408393
|
0.00134
|
NM_000355.4(TCN2):c.523G>A (p.Val175Met)
|
rs142791153
|
0.00134
|
NM_003126.4(SPTA1):c.1982G>A (p.Arg661His)
|
rs201845149
|
0.00134
|
NM_000996.4(RPL35A):c.-33G>A
|
rs564722971
|
0.00133
|
NM_001081.4(CUBN):c.8894T>C (p.Phe2965Ser)
|
rs117620008
|
0.00133
|
NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=)
|
rs28897762
|
0.00132
|
NM_001355436.2(SPTB):c.5915G>A (p.Arg1972Gln)
|
rs140141633
|
0.00132
|
NM_001113378.2(FANCI):c.3660T>C (p.Ser1220=)
|
rs116380142
|
0.00131
|
NM_138477.4(CDAN1):c.2735C>T (p.Ala912Val)
|
rs143086237
|
0.00130
|
NM_000355.4(TCN2):c.*381T>G
|
rs149713328
|
0.00128
|
NM_025215.6(PUS1):c.545-7C>T
|
rs201541270
|
0.00128
|
NM_000365.6(TPI1):c.*219C>T
|
rs376899563
|
0.00127
|
NM_000059.4(BRCA2):c.6821G>T (p.Gly2274Val)
|
rs55712212
|
0.00126
|
NM_000136.3(FANCC):c.632C>G (p.Pro211Arg)
|
rs140781259
|
0.00126
|
NM_000969.5(RPL5):c.*1A>G
|
rs11540833
|
0.00126
|
NM_000135.4(FANCA):c.2859C>G (p.Asp953Glu)
|
rs149112292
|
0.00125
|
NM_003126.4(SPTA1):c.6132G>C (p.Leu2044=)
|
rs186987240
|
0.00125
|
NM_032444.4(SLX4):c.2359G>A (p.Glu787Lys)
|
rs140600202
|
0.00125
|
NM_001113378.2(FANCI):c.753C>T (p.Asp251=)
|
rs151169233
|
0.00124
|
NM_001386140.1(MTTP):c.2025C>T (p.Ile675=)
|
rs79023226
|
0.00123
|
NM_006996.3(SLC19A2):c.639G>A (p.Lys213=)
|
rs137970656
|
0.00123
|
NM_015506.3(MMACHC):c.332G>A (p.Arg111Gln)
|
rs200300254
|
0.00123
|
NM_138477.4(CDAN1):c.2164C>T (p.Arg722Cys)
|
rs140014115
|
0.00123
|
NM_000298.6(PKLR):c.*1067T>C
|
rs559809916
|
0.00122
|
NM_000373.4(UMPS):c.*4755G>A
|
rs189776179
|
0.00121
|
NM_017875.4(SLC25A38):c.-161G>A
|
rs528990278
|
0.00120
|
NM_000037.4(ANK1):c.997G>A (p.Asp333Asn)
|
rs147608206
|
0.00119
|
NM_000298.6(PKLR):c.1706G>A (p.Arg569Gln)
|
rs61755431
|
0.00119
|
NM_000373.4(UMPS):c.495G>A (p.Ala165=)
|
rs75971351
|
0.00119
|
NM_001114134.2(EPB42):c.10+79G>A
|
rs149249456
|
0.00119
|
NM_032444.4(SLX4):c.2305G>C (p.Glu769Gln)
|
rs150712805
|
0.00119
|
NM_000365.6(TPI1):c.463G>A (p.Val155Met)
|
rs188138723
|
0.00118
|
NM_000617.3(SLC11A2):c.197G>A (p.Ser66Asn)
|
rs141728916
|
0.00118
|
NM_003126.4(SPTA1):c.3062A>T (p.Asp1021Val)
|
rs200511900
|
0.00117
|
NM_015702.3(MMADHC):c.578T>C (p.Val193Ala)
|
rs147370143
|
0.00117
|
NM_003126.4(SPTA1):c.775G>A (p.Ala259Thr)
|
rs187932146
|
0.00116
|
NM_080669.6(SLC46A1):c.*4636C>T
|
rs886052737
|
0.00116
|
NM_032444.4(SLX4):c.590T>C (p.Val197Ala)
|
rs147826749
|
0.00115
|
NM_001374504.1(TMPRSS6):c.838G>T (p.Val280Leu)
|
rs201148397
|
0.00114
|
NM_002485.5(NBN):c.1317A>G (p.Ile439Met)
|
rs28538230
|
0.00114
|
NM_003126.4(SPTA1):c.192T>A (p.Asp64Glu)
|
rs200860772
|
0.00114
|
NM_032444.4(SLX4):c.3676C>T (p.Arg1226Trp)
|
rs142008398
|
0.00114
|
NM_001002010.5(NT5C3A):c.325A>C (p.Lys109Gln)
|
rs144452782
|
0.00113
|
NM_032043.3(BRIP1):c.890A>G (p.Lys297Arg)
|
rs28997570
|
0.00113
|
NM_001374504.1(TMPRSS6):c.*499C>T
|
rs560949530
|
0.00112
|
NM_000373.4(UMPS):c.*4895A>G
|
rs142288742
|
0.00111
|
NM_001081.4(CUBN):c.5967G>C (p.Val1989=)
|
rs139153235
|
0.00111
|
NM_001386140.1(MTTP):c.972G>A (p.Glu324=)
|
rs146953015
|
0.00111
|
NM_000135.4(FANCA):c.80-13C>T
|
rs189841793
|
0.00110
|
NM_001360016.2(G6PD):c.1048G>C (p.Asp350His)
|
rs34193178
|
0.00110
|
NM_003126.4(SPTA1):c.174C>T (p.Phe58=)
|
rs190704778
|
0.00110
|
NM_004972.4(JAK2):c.1641+6T>C
|
rs182123615
|
0.00109
|
NM_080669.6(SLC46A1):c.*1831C>A
|
rs41297915
|
0.00109
|
NM_003126.4(SPTA1):c.2600C>A (p.Ala867Glu)
|
rs115877891
|
0.00108
|
NM_080669.6(SLC46A1):c.158C>T (p.Ala53Val)
|
rs41297069
|
0.00108
|
NM_001114134.2(EPB42):c.1609G>A (p.Ala537Thr)
|
rs45495503
|
0.00107
|
NM_000059.4(BRCA2):c.9235G>A (p.Val3079Ile)
|
rs55933907
|
0.00106
|
NM_080669.6(SLC46A1):c.512T>A (p.Val171Asp)
|
rs189103810
|
0.00106
|
NM_182916.3(TRNT1):c.809C>G (p.Pro270Arg)
|
rs187921784
|
0.00106
|
NM_000037.4(ANK1):c.1387G>A (p.Val463Ile)
|
rs140085544
|
0.00105
|
NM_001081.4(CUBN):c.7509G>A (p.Pro2503=)
|
rs201001705
|
0.00105
|
NM_001081.4(CUBN):c.10002G>C (p.Gln3334His)
|
rs147330179
|
0.00104
|
NM_032043.3(BRIP1):c.790C>T (p.Arg264Trp)
|
rs28997569
|
0.00104
|
NM_001018115.3(FANCD2):c.491+10G>A
|
rs17032279
|
0.00103
|
NM_004629.2(FANCG):c.739C>A (p.Gln247Lys)
|
rs145613634
|
0.00103
|
NM_000365.6(TPI1):c.192G>A (p.Ala64=)
|
rs149190846
|
0.00102
|
NM_080669.6(SLC46A1):c.22C>T (p.Pro8Ser)
|
rs41297065
|
0.00102
|
NM_003126.4(SPTA1):c.2655T>C (p.Arg885=)
|
rs368544526
|
0.00101
|
NM_032609.3(COX4I2):c.175G>C (p.Ala59Pro)
|
rs147223483
|
0.00101
|
NM_080669.6(SLC46A1):c.*1839G>A
|
rs41297917
|
0.00101
|
NM_000096.3(CP):c.-183T>C
|
rs185578646
|
0.00099
|
NM_005236.3(ERCC4):c.1563C>G (p.Ser521Arg)
|
rs41552412
|
0.00099
|
NM_080669.6(SLC46A1):c.*1981C>G
|
rs41297919
|
0.00099
|
NM_003126.4(SPTA1):c.3357G>C (p.Lys1119Asn)
|
rs200230894
|
0.00098
|
NM_021922.3(FANCE):c.284A>G (p.Gln95Arg)
|
rs149097636
|
0.00098
|
NM_021922.3(FANCE):c.696G>A (p.Glu232=)
|
rs147356927
|
0.00098
|
NM_025215.6(PUS1):c.1140C>T (p.Thr380=)
|
rs138198591
|
0.00098
|
NM_000136.3(FANCC):c.*667C>T
|
rs150462386
|
0.00096
|
NM_001063.4(TF):c.1027C>T (p.Arg343Trp)
|
rs150854910
|
0.00096
|
NM_002454.3(MTRR):c.869T>C (p.Ile290Thr)
|
rs144899305
|
0.00096
|
NM_017875.4(SLC25A38):c.*490G>A
|
rs150889211
|
0.00096
|
NM_003126.4(SPTA1):c.3715-11T>C
|
rs147184530
|
0.00094
|
NM_000342.4(SLC4A1):c.*353G>C
|
rs571581247
|
0.00093
|
NM_032043.3(BRIP1):c.*2337A>T
|
rs373664066
|
0.00093
|
NM_003126.4(SPTA1):c.4591G>C (p.Ala1531Pro)
|
rs143779235
|
0.00092
|
NM_000136.3(FANCC):c.178G>A (p.Val60Ile)
|
rs138629441
|
0.00091
|
NM_000254.3(MTR):c.2245C>T (p.Pro749Ser)
|
rs142250261
|
0.00091
|
NM_000375.3(UROS):c.475+14T>A
|
rs17425877
|
0.00091
|
NM_000384.3(APOB):c.3712C>A (p.Leu1238Ile)
|
rs72653078
|
0.00091
|
NM_000617.3(SLC11A2):c.*11G>A
|
rs201382454
|
0.00091
|
NM_001081.4(CUBN):c.10245C>T (p.Tyr3415=)
|
rs147730705
|
0.00091
|
NM_001081.4(CUBN):c.9078C>T (p.Phe3026=)
|
rs140524729
|
0.00091
|
NM_003126.4(SPTA1):c.4694T>A (p.Leu1565Gln)
|
rs202217097
|
0.00091
|
NM_003126.4(SPTA1):c.5457A>G (p.Leu1819=)
|
rs186994154
|
0.00091
|
NM_000135.4(FANCA):c.*172G>A
|
rs577149121
|
0.00090
|
NM_001081.4(CUBN):c.3495C>T (p.Cys1165=)
|
rs143531829
|
0.00090
|
NM_032043.3(BRIP1):c.*3188G>A
|
rs369850537
|
0.00090
|
NM_000037.4(ANK1):c.*2123G>T
|
rs560472367
|
0.00089
|
NM_001081.4(CUBN):c.3356T>C (p.Leu1119Ser)
|
rs141164907
|
0.00089
|
NM_003126.4(SPTA1):c.3108C>T (p.His1036=)
|
rs34886778
|
0.00089
|
NM_005142.3(CBLIF):c.910C>T (p.Pro304Ser)
|
rs150926439
|
0.00089
|
NM_032043.3(BRIP1):c.*132G>A
|
rs143361598
|
0.00089
|
NM_080669.6(SLC46A1):c.623A>T (p.Tyr208Phe)
|
rs201837257
|
0.00088
|
NM_032444.4(SLX4):c.1372A>G (p.Lys458Glu)
|
rs149126845
|
0.00087
|
NM_000135.4(FANCA):c.*843C>T
|
rs201316239
|
0.00086
|
NM_001081.4(CUBN):c.10575C>T (p.Pro3525=)
|
rs145569358
|
0.00086
|
NM_001081.4(CUBN):c.1951C>G (p.Arg651Gly)
|
rs182512508
|
0.00086
|
NM_001374504.1(TMPRSS6):c.183G>A (p.Val61=)
|
rs150521260
|
0.00086
|
NM_006996.3(SLC19A2):c.1014C>G (p.Ala338=)
|
rs143780369
|
0.00086
|
NM_020937.4(FANCM):c.1237T>C (p.Tyr413His)
|
rs138225703
|
0.00086
|
NM_032444.4(SLX4):c.3774C>T (p.Pro1258=)
|
rs146054214
|
0.00085
|
NM_006363.6(SEC23B):c.1198T>C (p.Phe400Leu)
|
rs142461689
|
0.00084
|
NM_000135.4(FANCA):c.3524C>T (p.Pro1175Leu)
|
rs147017625
|
0.00083
|
NM_000398.7(CYB5R3):c.637G>A (p.Glu213Lys)
|
rs61745147
|
0.00083
|
NM_001081.4(CUBN):c.6821+2T>C
|
rs150901286
|
0.00083
|
NM_001113378.2(FANCI):c.1491A>G (p.Gln497=)
|
rs145349375
|
0.00083
|
NM_006996.3(SLC19A2):c.824G>T (p.Arg275Leu)
|
rs61734338
|
0.00083
|
NM_020937.4(FANCM):c.3296G>A (p.Arg1099His)
|
rs139382267
|
0.00083
|
NM_198253.3(TERT):c.1849C>T (p.Leu617=)
|
rs140951453
|
0.00083
|
NM_005236.3(ERCC4):c.1727G>C (p.Arg576Thr)
|
rs1800068
|
0.00082
|
NM_000254.3(MTR):c.1862A>G (p.Asp621Gly)
|
rs61736440
|
0.00081
|
NM_000365.6(TPI1):c.366C>T (p.Leu122=)
|
rs138131191
|
0.00081
|
NM_000619.3(IFNG):c.183+15C>G
|
rs199708992
|
0.00081
|
NM_001081.4(CUBN):c.7210+9A>G
|
rs117711403
|
0.00081
|
NM_001374504.1(TMPRSS6):c.844G>A (p.Gly282Ser)
|
rs145053404
|
0.00081
|
NM_015506.3(MMACHC):c.316G>A (p.Glu106Lys)
|
rs201617713
|
0.00081
|
NM_080669.6(SLC46A1):c.972C>T (p.Leu324=)
|
rs188529539
|
0.00081
|
NM_001018115.3(FANCD2):c.1656+14T>A
|
rs200473919
|
0.00080
|
NM_005475.3(SH2B3):c.1198G>A (p.Glu400Lys)
|
rs72650673
|
0.00080
|
NM_080669.6(SLC46A1):c.*835A>G
|
rs181698246
|
0.00080
|
NM_000289.6(PFKM):c.41T>C (p.Ile14Thr)
|
rs140473672
|
0.00078
|
NM_000384.3(APOB):c.1470+15T>C
|
rs185550846
|
0.00078
|
NM_001142285.2(RPS24):c.811A>C (p.Ile271Leu)
|
rs74653472
|
0.00078
|
NM_032444.4(SLX4):c.85C>T (p.Arg29Cys)
|
rs144832924
|
0.00078
|
NM_000136.3(FANCC):c.*983C>T
|
rs56059656
|
0.00077
|
NM_001083116.3(PRF1):c.1229G>A (p.Arg410Gln)
|
rs150558419
|
0.00077
|
NM_002454.3(MTRR):c.446C>T (p.Ala149Val)
|
rs142714881
|
0.00077
|
NM_000059.4(BRCA2):c.*753C>T
|
rs190094748
|
0.00076
|
NM_001114134.2(EPB42):c.*21T>A
|
rs201342599
|
0.00076
|
NM_003126.4(SPTA1):c.3167G>T (p.Arg1056Leu)
|
rs188875641
|
0.00076
|
NM_025215.6(PUS1):c.1008G>A (p.Glu336=)
|
rs145430883
|
0.00076
|
NM_032043.3(BRIP1):c.3378A>C (p.Glu1126Asp)
|
rs145855459
|
0.00076
|
NM_138477.4(CDAN1):c.2662G>C (p.Asp888His)
|
rs150657573
|
0.00076
|
NM_000355.4(TCN2):c.1237A>G (p.Arg413Gly)
|
rs148963479
|
0.00075
|
NM_001018115.3(FANCD2):c.78A>C (p.Gln26His)
|
rs45510294
|
0.00075
|
NM_206965.2(FTCD):c.1358C>T (p.Thr453Met)
|
rs200283734
|
0.00075
|
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe)
|
rs41293475
|
0.00074
|
NM_000373.4(UMPS):c.827G>A (p.Ser276Asn)
|
rs140804035
|
0.00074
|
NM_058216.3(RAD51C):c.146-8A>G
|
rs201079501
|
0.00074
|
NM_000254.3(MTR):c.1141G>A (p.Ala381Thr)
|
rs144777709
|
0.00073
|
NM_003126.4(SPTA1):c.4564A>G (p.Thr1522Ala)
|
rs201910178
|
0.00073
|
NM_006947.4(SRP72):c.*194G>A
|
rs188713088
|
0.00073
|
NM_001063.4(TF):c.228G>A (p.Ala76=)
|
rs140381335
|
0.00072
|
NM_015506.3(MMACHC):c.181C>T (p.Arg61Trp)
|
rs200483477
|
0.00072
|
NM_000289.6(PFKM):c.453G>A (p.Thr151=)
|
rs144370737
|
0.00071
|
NM_001018115.3(FANCD2):c.1777C>T (p.Pro593Ser)
|
rs147523071
|
0.00071
|
NM_001113378.2(FANCI):c.824T>C (p.Ile275Thr)
|
rs142906652
|
0.00071
|
NM_000342.4(SLC4A1):c.615T>C (p.Asp205=)
|
rs5038
|
0.00070
|
NM_000619.3(IFNG):c.114+11C>T
|
rs200610212
|
0.00070
|
NM_001081.4(CUBN):c.10105A>G (p.Ser3369Gly)
|
rs145023719
|
0.00070
|
NM_001081.4(CUBN):c.8399C>T (p.Thr2800Ile)
|
rs141737312
|
0.00070
|
NM_001114134.2(EPB42):c.10+60C>T
|
rs144428415
|
0.00070
|
NM_005236.3(ERCC4):c.532G>T (p.Val178Leu)
|
rs149927607
|
0.00070
|
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe)
|
rs55639415
|
0.00069
|
NM_001040436.3(YARS2):c.*360A>G
|
rs567955032
|
0.00069
|
NM_032043.3(BRIP1):c.3459T>C (p.Asp1153=)
|
rs4987050
|
0.00069
|
NM_032444.4(SLX4):c.4261A>T (p.Ile1421Phe)
|
rs141567438
|
0.00069
|
NM_001355436.2(SPTB):c.1606G>A (p.Asp536Asn)
|
rs145675502
|
0.00068
|
NM_003126.4(SPTA1):c.4862T>A (p.Phe1621Tyr)
|
rs374298000
|
0.00068
|
NM_005142.3(CBLIF):c.82G>A (p.Val28Ile)
|
rs139090732
|
0.00068
|
NM_000037.4(ANK1):c.1153C>T (p.Arg385Cys)
|
rs142626656
|
0.00067
|
NM_000365.6(TPI1):c.448G>T (p.Val150Phe)
|
rs150585849
|
0.00067
|
NM_001081.4(CUBN):c.*782G>A
|
rs570478432
|
0.00067
|
NM_000253.3(MTTP):c.-214G>A
|
rs569667113
|
0.00066
|
NM_000619.3(IFNG):c.-5A>G
|
rs181407537
|
0.00066
|
NM_005142.3(CBLIF):c.455C>T (p.Pro152Leu)
|
rs148081315
|
0.00066
|
NM_001355436.2(SPTB):c.2519G>A (p.Arg840His)
|
rs146326769
|
0.00065
|
NM_206965.2(FTCD):c.1364C>T (p.Ala455Val)
|
rs61735840
|
0.00065
|
NM_000373.4(UMPS):c.*3359G>T
|
rs752390899
|
0.00064
|
NM_000518.4(HBB):c.208G>A (p.Gly70Ser)
|
rs33947415
|
0.00064
|
NM_001081.4(CUBN):c.4669C>T (p.Leu1557Phe)
|
rs140970422
|
0.00064
|
NM_017875.4(SLC25A38):c.12C>T (p.Asn4=)
|
rs142420345
|
0.00064
|
NM_000037.4(ANK1):c.*665C>T
|
rs547095997
|
0.00063
|
NM_015702.3(MMADHC):c.455C>G (p.Thr152Arg)
|
rs146795035
|
0.00063
|
NM_021922.3(FANCE):c.-126T>A
|
rs930863473
|
0.00062
|
NM_002693.3(POLG):c.*63A>G
|
rs552236933
|
0.00061
|
NM_018062.4(FANCL):c.203G>C (p.Arg68Pro)
|
rs143819820
|
0.00061
|
NM_021922.3(FANCE):c.229C>A (p.Pro77Thr)
|
rs587778335
|
0.00061
|
NM_032444.4(SLX4):c.339T>C (p.Ser113=)
|
rs144326379
|
0.00061
|
NM_138477.4(CDAN1):c.2743T>C (p.Leu915=)
|
rs149472555
|
0.00061
|
NM_006563.5(KLF1):c.478G>A (p.Glu160Lys)
|
rs772655521
|
0.00060
|
NM_000373.4(UMPS):c.*2552A>G
|
rs548237479
|
0.00059
|
NM_002454.3(MTRR):c.1021G>A (p.Val341Ile)
|
rs74790259
|
0.00059
|
NM_006563.5(KLF1):c.*367C>G
|
rs375799978
|
0.00059
|
NM_021922.3(FANCE):c.1095A>C (p.Arg365Ser)
|
rs141268133
|
0.00059
|
NM_032444.4(SLX4):c.3178C>T (p.Arg1060Trp)
|
rs144273492
|
0.00059
|
NM_000373.4(UMPS):c.*1050C>T
|
rs186445088
|
0.00058
|
NM_000975.5(RPL11):c.396+9A>G
|
rs201786327
|
0.00058
|
NM_001374504.1(TMPRSS6):c.1687G>A (p.Gly563Ser)
|
rs148129773
|
0.00058
|
NM_020937.4(FANCM):c.5141C>T (p.Ala1714Val)
|
rs139383231
|
0.00058
|
NM_024675.4(PALB2):c.2851T>C (p.Ser951Pro)
|
rs149522412
|
0.00058
|
NM_001018115.3(FANCD2):c.3877G>A (p.Val1293Ile)
|
rs138398760
|
0.00057
|
NM_000135.4(FANCA):c.3514-13G>A
|
rs200270574
|
0.00056
|
NM_000298.6(PKLR):c.1614A>T (p.Glu538Asp)
|
rs201217064
|
0.00056
|
NM_000355.4(TCN2):c.784G>C (p.Glu262Gln)
|
rs61743653
|
0.00056
|
NM_000355.4(TCN2):c.809C>T (p.Ala270Val)
|
rs201392026
|
0.00056
|
NM_001113378.1(FANCI):c.-90T>C
|
rs559714713
|
0.00056
|
NM_005142.3(CBLIF):c.218A>G (p.Lys73Arg)
|
rs139444835
|
0.00056
|
NM_005236.3(ERCC4):c.16C>T (p.Pro6Ser)
|
rs61760160
|
0.00056
|
NM_017875.4(SLC25A38):c.*305G>A
|
rs774462116
|
0.00056
|
NM_032043.3(BRIP1):c.*2070G>A
|
rs764258526
|
0.00056
|
NM_080669.6(SLC46A1):c.*1649A>G
|
rs779490495
|
0.00056
|
NM_000135.4(FANCA):c.2658G>C (p.Glu886Asp)
|
rs139002130
|
0.00055
|
NM_000136.3(FANCC):c.*1339C>T
|
rs144155068
|
0.00055
|
NM_001374504.1(TMPRSS6):c.1206C>T (p.Gly402=)
|
rs146266448
|
0.00055
|
NM_015702.3(MMADHC):c.414A>C (p.Glu138Asp)
|
rs113390214
|
0.00055
|
NM_018368.4(LMBRD1):c.1199T>C (p.Ile400Thr)
|
rs147447600
|
0.00055
|
NM_138477.4(CDAN1):c.1649T>C (p.Met550Thr)
|
rs201599639
|
0.00055
|
NM_138477.4(CDAN1):c.1705G>C (p.Gly569Arg)
|
rs201079951
|
0.00055
|
NM_174936.4(PCSK9):c.847C>A (p.Leu283Met)
|
rs72646510
|
0.00055
|
NM_000342.3(SLC4A1):c.980C>G (p.Pro327Arg)
|
rs28931583
|
0.00054
|
NM_001081.4(CUBN):c.5522C>T (p.Thr1841Met)
|
rs138989259
|
0.00054
|
NM_003126.4(SPTA1):c.7068A>C (p.Glu2356Asp)
|
rs78598639
|
0.00054
|
NM_080669.6(SLC46A1):c.295T>C (p.Phe99Leu)
|
rs201862124
|
0.00054
|
NM_000096.4(CP):c.1811C>A (p.Pro604His)
|
rs188643164
|
0.00053
|
NM_000135.4(FANCA):c.3183C>T (p.Ser1061=)
|
rs1800346
|
0.00053
|
NM_000355.4(TCN2):c.130C>T (p.Arg44Trp)
|
rs374992877
|
0.00053
|
NM_020937.4(FANCM):c.2173A>G (p.Thr725Ala)
|
rs146325649
|
0.00053
|
NM_020937.4(FANCM):c.2297A>G (p.Glu766Gly)
|
rs139946652
|
0.00053
|
NM_030943.4(AMN):c.1349A>G (p.Glu450Gly)
|
rs370794142
|
0.00053
|
NM_032043.3(BRIP1):c.*2667C>T
|
rs373156872
|
0.00053
|
NM_001018115.3(FANCD2):c.1130A>G (p.His377Arg)
|
rs141141752
|
0.00052
|
NM_020937.4(FANCM):c.5020A>G (p.Ser1674Gly)
|
rs140499872
|
0.00052
|
NM_032444.4(SLX4):c.2756C>T (p.Thr919Ile)
|
rs145533919
|
0.00052
|
NM_000135.4(FANCA):c.*937A>G
|
rs55794507
|
0.00051
|
NM_000136.3(FANCC):c.934A>G (p.Ile312Val)
|
rs1800366
|
0.00051
|
NM_000342.4(SLC4A1):c.2603C>T (p.Pro868Leu)
|
rs121912759
|
0.00051
|
NM_001113378.2(FANCI):c.3499T>G (p.Cys1167Gly)
|
rs61744917
|
0.00051
|
NM_001355436.2(SPTB):c.774G>A (p.Thr258=)
|
rs12435635
|
0.00051
|
NM_004629.2(FANCG):c.478G>A (p.Ala160Thr)
|
rs140534765
|
0.00051
|
NM_017875.4(SLC25A38):c.-237G>A
|
rs527536267
|
0.00051
|
NM_022725.4(FANCF):c.385C>G (p.Leu129Val)
|
rs61753271
|
0.00051
|
NM_138477.4(CDAN1):c.1860+5G>A
|
rs113313967
|
0.00051
|
NM_006363.5(SEC23B):c.-76G>C
|
rs373348732
|
0.00050
|
NM_006363.6(SEC23B):c.74C>A (p.Pro25His)
|
rs6045440
|
0.00050
|
NM_018368.4(LMBRD1):c.1130T>C (p.Phe377Ser)
|
rs73477459
|
0.00050
|
NM_138477.4(CDAN1):c.982G>A (p.Val328Ile)
|
rs144448301
|
0.00050
|
NM_198253.3(TERT):c.2106G>A (p.Pro702=)
|
rs151055240
|
0.00050
|
NM_000096.4(CP):c.2554+8C>T
|
rs749646388
|
0.00049
|
NM_001386140.1(MTTP):c.1874C>T (p.Pro625Leu)
|
rs146045390
|
0.00049
|
NM_003126.4(SPTA1):c.3960C>T (p.Asp1320=)
|
rs186415745
|
0.00049
|
NM_018368.4(LMBRD1):c.-103A>G
|
rs369575833
|
0.00049
|
NM_020937.4(FANCM):c.5569G>A (p.Val1857Met)
|
rs144008013
|
0.00049
|
NM_032444.4(SLX4):c.2975G>A (p.Gly992Glu)
|
rs139287784
|
0.00049
|
NM_000037.4(ANK1):c.*2281C>T
|
rs545505994
|
0.00048
|
NM_000059.4(BRCA2):c.7994A>G (p.Asp2665Gly)
|
rs28897745
|
0.00048
|
NM_000135.4(FANCA):c.3427C>G (p.Leu1143Val)
|
rs61753269
|
0.00048
|
NM_000254.3(MTR):c.3227C>T (p.Thr1076Met)
|
rs144991102
|
0.00048
|
NM_001018115.3(FANCD2):c.1920A>C (p.Gln640His)
|
rs140452766
|
0.00048
|
NM_001114134.2(EPB42):c.1387G>A (p.Gly463Ser)
|
rs148871144
|
0.00048
|
NM_001114134.2(EPB42):c.1602G>A (p.Thr534=)
|
rs149742998
|
0.00048
|
NM_022725.4(FANCF):c.241G>T (p.Ala81Ser)
|
rs145057187
|
0.00048
|
NM_032043.3(BRIP1):c.317G>A (p.Arg106His)
|
rs143615668
|
0.00048
|
NM_138477.4(CDAN1):c.3188C>T (p.Thr1063Met)
|
rs143857276
|
0.00048
|
NM_198253.3(TERT):c.2130+10G>A
|
rs373879259
|
0.00048
|
NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp)
|
rs143671872
|
0.00047
|
NM_001040436.3(YARS2):c.535A>C (p.Lys179Gln)
|
rs147630375
|
0.00047
|
NM_002485.5(NBN):c.628G>T (p.Val210Phe)
|
rs61754796
|
0.00047
|
NM_004629.1(FANCG):c.-488G>A
|
rs752617227
|
0.00047
|
NM_032444.4(SLX4):c.3189C>T (p.Gly1063=)
|
rs200742809
|
0.00047
|
NM_000136.3(FANCC):c.672C>T (p.Asn224=)
|
rs150647141
|
0.00046
|
NM_000136.3(FANCC):c.705C>T (p.Pro235=)
|
rs141828876
|
0.00046
|
NM_000298.6(PKLR):c.507+14C>A
|
rs201156800
|
0.00046
|
NM_000373.4(UMPS):c.*2410_*2412del
|
rs886057878
|
0.00046
|
NM_001081.4(CUBN):c.*734A>G
|
rs751683958
|
0.00046
|
NM_006363.6(SEC23B):c.1665+6T>C
|
rs371786580
|
0.00046
|
NM_032444.4(SLX4):c.2249C>T (p.Thr750Met)
|
rs145353518
|
0.00046
|
NM_138477.4(CDAN1):c.2868C>T (p.Ala956=)
|
rs150438471
|
0.00046
|
NM_000059.4(BRCA2):c.7976+12G>A
|
rs81002827
|
0.00045
|
NM_000298.6(PKLR):c.-26C>T
|
rs200181342
|
0.00045
|
NM_001018115.3(FANCD2):c.182C>T (p.Thr61Met)
|
rs35110529
|
0.00045
|
NM_001374504.1(TMPRSS6):c.243C>A (p.Gly81=)
|
rs147397866
|
0.00045
|
NM_005142.3(CBLIF):c.1064C>G (p.Pro355Arg)
|
rs201871926
|
0.00045
|
NM_022725.4(FANCF):c.633G>T (p.Gln211His)
|
rs146975768
|
0.00045
|
NM_032444.4(SLX4):c.1584C>G (p.Ser528Arg)
|
rs139865448
|
0.00045
|
NM_138477.4(CDAN1):c.1368-6C>T
|
rs200290322
|
0.00045
|
NM_174936.4(PCSK9):c.*1151del
|
rs563024336
|
0.00045
|
NM_206965.2(FTCD):c.*1C>T
|
rs144773622
|
0.00045
|
NM_001081.4(CUBN):c.2929T>C (p.Phe977Leu)
|
rs142292210
|
0.00044
|
NM_001081.4(CUBN):c.3988C>T (p.His1330Tyr)
|
rs149749419
|
0.00044
|
NM_001081.4(CUBN):c.7434C>T (p.Cys2478=)
|
rs148976047
|
0.00044
|
NM_001114134.2(EPB42):c.581G>A (p.Arg194His)
|
rs146348439
|
0.00044
|
NM_001114134.2(EPB42):c.953G>T (p.Gly318Val)
|
rs143974871
|
0.00044
|
NM_001386140.1(MTTP):c.502-12C>T
|
rs200628118
|
0.00044
|
NM_020937.4(FANCM):c.2996C>T (p.Pro999Leu)
|
rs148304968
|
0.00044
|
NM_032444.4(SLX4):c.1707G>A (p.Pro569=)
|
rs141687678
|
0.00044
|
NM_032444.4(SLX4):c.4658A>T (p.Asn1553Ile)
|
rs150460384
|
0.00044
|
NM_138477.4(CDAN1):c.2805-11T>A
|
rs200767055
|
0.00044
|
NM_000037.4(ANK1):c.4448T>G (p.Leu1483Arg)
|
rs141408004
|
0.00043
|
NM_000135.4(FANCA):c.3408+9C>G
|
rs377702890
|
0.00043
|
NM_000289.6(PFKM):c.*622G>A
|
rs568063197
|
0.00043
|
NM_001063.4(TF):c.43+8C>A
|
rs368521553
|
0.00043
|
NM_001113378.2(FANCI):c.2326A>G (p.Met776Val)
|
rs150544323
|
0.00043
|
NM_021922.3(FANCE):c.1333C>T (p.Pro445Ser)
|
rs141551053
|
0.00043
|
NM_030943.4(AMN):c.928G>A (p.Val310Met)
|
rs201788173
|
0.00043
|
NM_032444.4(SLX4):c.4099G>A (p.Ala1367Thr)
|
rs17136464
|
0.00043
|
NM_000096.4(CP):c.2446G>A (p.Val816Ile)
|
rs139058165
|
0.00042
|
NM_000135.4(FANCA):c.437C>G (p.Ser146Cys)
|
rs141367100
|
0.00042
|
NM_000186.4(CFH):c.1825G>A (p.Val609Ile)
|
rs148165372
|
0.00042
|
NM_001081.4(CUBN):c.3252A>G (p.Gln1084=)
|
rs142560894
|
0.00042
|
NM_001114134.2(EPB42):c.2032A>G (p.Asn678Asp)
|
rs201674874
|
0.00042
|
NM_020207.7(ERCC6L2):c.1099T>C (p.Trp367Arg)
|
rs200807189
|
0.00042
|
NM_000037.4(ANK1):c.4156T>C (p.Tyr1386His)
|
rs201439151
|
0.00041
|
NM_000096.4(CP):c.788A>G (p.Asn263Ser)
|
rs150303869
|
0.00041
|
NM_000136.3(FANCC):c.*97dup
|
rs1057515705
|
0.00041
|
NM_000373.4(UMPS):c.*1902G>A
|
rs147465900
|
0.00041
|
NM_000373.4(UMPS):c.*2605G>A
|
rs554810943
|
0.00041
|
NM_000375.3(UROS):c.*178G>A
|
rs569628154
|
0.00041
|
NM_001040436.3(YARS2):c.870T>C (p.Val290=)
|
rs142067801
|
0.00041
|
NM_001081.4(CUBN):c.671G>A (p.Arg224His)
|
rs139891639
|
0.00041
|
NM_001081.4(CUBN):c.9061G>A (p.Glu3021Lys)
|
rs41289299
|
0.00041
|
NM_002454.3(MTRR):c.1182C>G (p.Asp394Glu)
|
rs149678769
|
0.00041
|
NM_003126.4(SPTA1):c.3829C>T (p.Arg1277Cys)
|
rs143642542
|
0.00041
|
NM_003126.4(SPTA1):c.6896G>T (p.Cys2299Phe)
|
rs201514157
|
0.00041
|
NM_020937.4(FANCM):c.874C>G (p.Pro292Ala)
|
rs142747831
|
0.00041
|
NM_022725.4(FANCF):c.728G>A (p.Gly243Glu)
|
rs150216454
|
0.00041
|
NM_032043.3(BRIP1):c.2220G>T (p.Gln740His)
|
rs45589637
|
0.00041
|
NM_032444.4(SLX4):c.*882C>T
|
rs578011999
|
0.00041
|
NM_032444.4(SLX4):c.4494G>A (p.Leu1498=)
|
rs146532299
|
0.00041
|
NM_000298.6(PKLR):c.92C>T (p.Ala31Val)
|
rs150077703
|
0.00040
|
NM_000617.3(SLC11A2):c.15T>C (p.Pro5=)
|
rs192462172
|
0.00040
|
NM_001386140.1(MTTP):c.1023A>G (p.Lys341=)
|
rs145724674
|
0.00040
|
NM_006363.6(SEC23B):c.1233+4C>T
|
rs201883785
|
0.00040
|
NM_006363.6(SEC23B):c.519G>A (p.Val173=)
|
rs138314893
|
0.00040
|
NM_006996.3(SLC19A2):c.*51C>G
|
rs376279404
|
0.00040
|
NM_000037.4(ANK1):c.2167C>A (p.His723Asn)
|
rs150899388
|
0.00039
|
NM_000136.3(FANCC):c.*2296G>A
|
rs561975553
|
0.00039
|
NM_001018115.3(FANCD2):c.4281+355A>G
|
rs770674504
|
0.00039
|
NM_001022.4(RPS19):c.164C>T (p.Thr55Met)
|
rs147508369
|
0.00039
|
NM_001386140.1(MTTP):c.394-7C>T
|
rs368989581
|
0.00039
|
NM_002454.3(MTRR):c.1777C>T (p.Leu593Phe)
|
rs146415045
|
0.00039
|
NM_003126.4(SPTA1):c.2608G>A (p.Val870Met)
|
rs140291959
|
0.00039
|
NM_003126.4(SPTA1):c.47A>T (p.Lys16Met)
|
rs201634881
|
0.00039
|
NM_022725.4(FANCF):c.637C>T (p.Pro213Ser)
|
rs201382399
|
0.00039
|
NM_025215.6(PUS1):c.821G>A (p.Arg274Gln)
|
rs138561555
|
0.00039
|
NM_032444.4(SLX4):c.*102G>A
|
rs531417263
|
0.00039
|
NM_138477.4(CDAN1):c.2776G>A (p.Gly926Arg)
|
rs200401359
|
0.00039
|
NM_000037.4(ANK1):c.1337G>C (p.Arg446Thr)
|
rs142010751
|
0.00038
|
NM_000136.3(FANCC):c.1374A>C (p.Arg458Ser)
|
rs56394801
|
0.00038
|
NM_000373.4(UMPS):c.*4693G>A
|
rs757504757
|
0.00038
|
NM_001113378.2(FANCI):c.3896G>T (p.Arg1299Leu)
|
rs138663330
|
0.00038
|
NM_003126.4(SPTA1):c.5410C>T (p.Leu1804Phe)
|
rs116959874
|
0.00038
|
NM_015506.3(MMACHC):c.67G>T (p.Val23Phe)
|
rs201898615
|
0.00038
|
NM_032444.4(SLX4):c.231A>G (p.Gln77=)
|
rs143279888
|
0.00038
|
NM_032444.4(SLX4):c.467C>A (p.Thr156Lys)
|
rs144614070
|
0.00038
|
NM_000096.4(CP):c.1501A>C (p.Ser501Arg)
|
rs139756428
|
0.00037
|
NM_000096.4(CP):c.938C>T (p.Thr313Ile)
|
rs144401501
|
0.00037
|
NM_000135.4(FANCA):c.1904C>T (p.Ala635Val)
|
rs142217479
|
0.00037
|
NM_000637.5(GSR):c.697C>T (p.Arg233Cys)
|
rs145851500
|
0.00037
|
NM_001018115.3(FANCD2):c.2273G>C (p.Cys758Ser)
|
rs540805431
|
0.00037
|
NM_001081.4(CUBN):c.8593G>A (p.Val2865Met)
|
rs146847375
|
0.00037
|
NM_003126.4(SPTA1):c.1351-4A>G
|
rs200868774
|
0.00037
|
NM_025215.6(PUS1):c.-244G>C
|
rs886049091
|
0.00037
|
NM_080669.6(SLC46A1):c.*2558C>T
|
rs750056802
|
0.00037
|
NM_000135.4(FANCA):c.3981C>T (p.His1327=)
|
rs141278771
|
0.00036
|
NM_000186.3(CFH):c.-175T>C
|
rs762143457
|
0.00036
|
NM_000186.4(CFH):c.1111C>A (p.His371Asn)
|
rs145650378
|
0.00036
|
NM_000298.6(PKLR):c.*582G>A
|
rs758139094
|
0.00036
|
NM_000617.3(SLC11A2):c.*1949A>G
|
rs72561485
|
0.00036
|
NM_001018115.3(FANCD2):c.2180C>T (p.Pro727Leu)
|
rs146509445
|
0.00036
|
NM_003126.4(SPTA1):c.5778C>T (p.Asp1926=)
|
rs146520285
|
0.00036
|
NM_005236.3(ERCC4):c.2677A>G (p.Asn893Asp)
|
rs201926295
|
0.00036
|
NM_018062.4(FANCL):c.534A>G (p.Thr178=)
|
rs151181785
|
0.00036
|
NM_032444.4(SLX4):c.2654C>T (p.Pro885Leu)
|
rs147492092
|
0.00036
|
NM_032444.4(SLX4):c.2681T>G (p.Val894Gly)
|
rs145137472
|
0.00036
|
NM_032444.4(SLX4):c.3671A>T (p.Glu1224Val)
|
rs566584111
|
0.00036
|
NM_000037.4(ANK1):c.*701C>T
|
rs546029986
|
0.00035
|
NM_000037.4(ANK1):c.229-11A>G
|
rs372152994
|
0.00035
|
NM_000037.4(ANK1):c.327+3A>G
|
rs374296178
|
0.00035
|
NM_000059.4(BRCA2):c.9924C>T (p.Tyr3308=)
|
rs4987049
|
0.00035
|
NM_000135.4(FANCA):c.3583C>T (p.Arg1195Trp)
|
rs143642304
|
0.00035
|
NM_000373.4(UMPS):c.*274C>T
|
rs556138886
|
0.00035
|
NM_000518.5(HBB):c.93G>T (p.Arg31Ser)
|
rs1135071
|
0.00035
|
NM_005050.4(ABCD4):c.406C>T (p.Arg136Trp)
|
rs145141432
|
0.00035
|
NM_021922.3(FANCE):c.-105C>T
|
rs886061326
|
0.00035
|
NM_138477.4(CDAN1):c.2360C>T (p.Ala787Val)
|
rs138839403
|
0.00035
|
NM_000254.3(MTR):c.1953+6G>C
|
rs147410975
|
0.00034
|
NM_000298.6(PKLR):c.111G>T (p.Gly37=)
|
rs141341788
|
0.00034
|
NM_000342.4(SLC4A1):c.*1676A>G
|
rs745898810
|
0.00034
|
NM_001018115.3(FANCD2):c.3466+10C>T
|
rs200208121
|
0.00034
|
NM_001081.4(CUBN):c.1349G>A (p.Gly450Asp)
|
rs146463364
|
0.00034
|
NM_001081.4(CUBN):c.6091A>G (p.Thr2031Ala)
|
rs150392211
|
0.00034
|
NM_001355436.2(SPTB):c.26A>C (p.Asn9Thr)
|
rs138437526
|
0.00034
|
NM_005050.4(ABCD4):c.752G>A (p.Arg251His)
|
rs139315421
|
0.00034
|
NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer)
|
rs747253294
|
0.00034
|
NM_022725.4(FANCF):c.91G>A (p.Val31Met)
|
rs11556562
|
0.00034
|
NM_030943.4(AMN):c.651+3G>T
|
rs751723677
|
0.00034
|
NM_032043.3(BRIP1):c.*380C>T
|
rs556729826
|
0.00034
|
NM_032043.3(BRIP1):c.1735C>T (p.Arg579Cys)
|
rs28997571
|
0.00034
|
NM_032444.4(SLX4):c.4384G>T (p.Ala1462Ser)
|
rs138484365
|
0.00034
|
NM_080669.6(SLC46A1):c.*4418C>T
|
rs184621509
|
0.00034
|
NM_001081.4(CUBN):c.5429G>A (p.Arg1810Gln)
|
rs149622438
|
0.00033
|
NM_002485.5(NBN):c.425A>G (p.Asn142Ser)
|
rs769414
|
0.00033
|
NM_003126.4(SPTA1):c.3477+10G>C
|
rs201932894
|
0.00033
|
NM_005236.3(ERCC4):c.217A>G (p.Ile73Val)
|
rs141591400
|
0.00033
|
NM_017875.4(SLC25A38):c.456+10A>G
|
rs368989667
|
0.00033
|
NM_138477.4(CDAN1):c.3556G>A (p.Gly1186Arg)
|
rs371901013
|
0.00033
|
NM_206965.2(FTCD):c.319T>C (p.Cys107Arg)
|
rs377359525
|
0.00033
|
NM_000135.4(FANCA):c.*138T>A
|
rs775549018
|
0.00032
|
NM_000136.3(FANCC):c.*1495T>G
|
rs41281198
|
0.00032
|
NM_000136.3(FANCC):c.*2305G>A
|
rs562465438
|
0.00032
|
NM_000186.4(CFH):c.2171C>A (p.Thr724Lys)
|
rs142902005
|
0.00032
|
NM_000375.3(UROS):c.*99A>G
|
rs886046814
|
0.00032
|
NM_000518.5(HBB):c.-106G>C
|
rs63750681
|
0.00032
|
NM_000617.3(SLC11A2):c.1425C>T (p.Gly475=)
|
rs139057918
|
0.00032
|
NM_001081.4(CUBN):c.4376C>G (p.Ser1459Cys)
|
rs138022214
|
0.00032
|
NM_001081.4(CUBN):c.791G>C (p.Arg264Thr)
|
rs144440300
|
0.00032
|
NM_001386140.1(MTTP):c.146G>A (p.Gly49Glu)
|
rs145545828
|
0.00032
|
NM_003126.4(SPTA1):c.1688G>A (p.Arg563Gln)
|
rs202243588
|
0.00032
|
NM_003126.4(SPTA1):c.6235C>T (p.Arg2079Trp)
|
rs372075053
|
0.00032
|
NM_017875.4(SLC25A38):c.161G>A (p.Arg54His)
|
rs144319567
|
0.00032
|
NM_020937.4(FANCM):c.269C>T (p.Pro90Leu)
|
rs142904668
|
0.00032
|
NM_021922.3(FANCE):c.1018G>C (p.Gly340Arg)
|
rs45524646
|
0.00032
|
NM_000032.5(ALAS2):c.1244C>T (p.Ala415Val)
|
rs143328343
|
0.00031
|
NM_000059.4(BRCA2):c.*854T>C
|
rs572993583
|
0.00031
|
NM_000135.4(FANCA):c.480G>A (p.Met160Ile)
|
rs200603300
|
0.00031
|
NM_000289.5(PFKM):c.-174G>A
|
rs765876195
|
0.00031
|
NM_000342.4(SLC4A1):c.2701C>T (p.Arg901Trp)
|
rs201265160
|
0.00031
|
NM_000355.4(TCN2):c.1229C>G (p.Ala410Gly)
|
rs145807876
|
0.00031
|
NM_000373.4(UMPS):c.1063C>A (p.Gln355Lys)
|
rs202135467
|
0.00031
|
NM_000384.3(APOB):c.2853G>A (p.Glu951=)
|
rs151193347
|
0.00031
|
NM_000617.3(SLC11A2):c.1258A>G (p.Ile420Val)
|
rs148582995
|
0.00031
|
NM_001018115.3(FANCD2):c.33G>A (p.Glu11=)
|
rs147426418
|
0.00031
|
NM_001081.4(CUBN):c.3116A>G (p.Tyr1039Cys)
|
rs150014503
|
0.00031
|
NM_001081.4(CUBN):c.7837A>C (p.Ile2613Leu)
|
rs144626884
|
0.00031
|
NM_001081.4(CUBN):c.9335T>C (p.Phe3112Ser)
|
rs150985118
|
0.00031
|
NM_001113378.2(FANCI):c.406G>A (p.Ala136Thr)
|
rs139181400
|
0.00031
|
NM_003126.4(SPTA1):c.1833+4G>A
|
rs370697955
|
0.00031
|
NM_003126.4(SPTA1):c.3477+15C>T
|
rs369904982
|
0.00031
|
NM_003126.4(SPTA1):c.3839A>G (p.Asp1280Gly)
|
rs200890386
|
0.00031
|
NM_004629.2(FANCG):c.794C>T (p.Ala265Val)
|
rs764992007
|
0.00031
|
NM_006947.4(SRP72):c.*505C>T
|
rs562987091
|
0.00031
|
NM_006996.3(SLC19A2):c.*1186A>G
|
rs922589020
|
0.00031
|
NM_022725.4(FANCF):c.*1094A>G
|
rs544116147
|
0.00031
|
NM_032444.4(SLX4):c.2609C>T (p.Ala870Val)
|
rs149584080
|
0.00031
|
NM_032444.4(SLX4):c.3368C>A (p.Ser1123Tyr)
|
rs144647122
|
0.00031
|
NM_138477.4(CDAN1):c.*223G>C
|
rs568387944
|
0.00031
|
NM_000032.5(ALAS2):c.373A>G (p.Ile125Val)
|
rs143995220
|
0.00030
|
NM_000037.4(ANK1):c.1194C>T (p.Asp398=)
|
rs148471199
|
0.00030
|
NM_000135.4(FANCA):c.*521C>T
|
rs144644592
|
0.00030
|
NM_000298.6(PKLR):c.*1041C>T
|
rs528740550
|
0.00030
|
NM_000298.6(PKLR):c.1552C>T (p.Arg518Cys)
|
rs139002629
|
0.00030
|
NM_001063.4(TF):c.1107C>T (p.His369=)
|
rs112157819
|
0.00030
|
NM_001063.4(TF):c.119G>A (p.Ser40Asn)
|
rs146477698
|
0.00030
|
NM_001374504.1(TMPRSS6):c.530C>T (p.Ser177Leu)
|
rs139489941
|
0.00030
|
NM_015506.3(MMACHC):c.19G>A (p.Glu7Lys)
|
rs377405910
|
0.00030
|
NM_017875.4(SLC25A38):c.*547C>T
|
rs559766369
|
0.00030
|
NM_017875.4(SLC25A38):c.302T>C (p.Val101Ala)
|
rs141545606
|
0.00030
|
NM_032444.4(SLX4):c.2585G>A (p.Arg862Gln)
|
rs143558209
|
0.00030
|
NM_138477.4(CDAN1):c.3204+5G>A
|
rs201125492
|
0.00030
|
NM_198253.3(TERT):c.2991G>A (p.Val997=)
|
rs376266401
|
0.00030
|
NM_198253.3(TERT):c.3333G>A (p.Thr1111=)
|
rs200102606
|
0.00030
|
NM_206965.2(FTCD):c.959G>A (p.Arg320Gln)
|
rs77740289
|
0.00030
|
NM_000037.4(ANK1):c.1503C>T (p.Thr501=)
|
rs145793923
|
0.00029
|
NM_000037.4(ANK1):c.3984+9A>G
|
rs369984591
|
0.00029
|
NM_000096.4(CP):c.*373C>G
|
rs370247691
|
0.00029
|
NM_000135.4(FANCA):c.*144G>C
|
rs575606938
|
0.00029
|
NM_000135.4(FANCA):c.1340C>T (p.Ser447Leu)
|
rs149551759
|
0.00029
|
NM_000135.4(FANCA):c.2637C>T (p.Ala879=)
|
rs149435806
|
0.00029
|
NM_000135.4(FANCA):c.577C>G (p.Leu193Val)
|
rs141861208
|
0.00029
|
NM_000175.5(GPI):c.317G>A (p.Arg106Gln)
|
rs143827313
|
0.00029
|
NM_000518.5(HBB):c.324C>T (p.Gly108=)
|
rs193922562
|
0.00029
|
NM_000617.3(SLC11A2):c.*716G>A
|
rs571129669
|
0.00029
|
NM_001018115.3(FANCD2):c.1134+8T>G
|
rs373232961
|
0.00029
|
NM_001018115.3(FANCD2):c.2803A>C (p.Ile935Leu)
|
rs61751578
|
0.00029
|
NM_001018115.3(FANCD2):c.4281+597C>T
|
rs548255173
|
0.00029
|
NM_001022.4(RPS19):c.68A>G (p.Lys23Arg)
|
rs143477104
|
0.00029
|
NM_001081.4(CUBN):c.6263T>C (p.Phe2088Ser)
|
rs74844886
|
0.00029
|
NM_001081.4(CUBN):c.814G>A (p.Gly272Arg)
|
rs146035059
|
0.00029
|
NM_001386140.1(MTTP):c.-82C>T
|
rs767201629
|
0.00029
|
NM_001386140.1(MTTP):c.-84T>C
|
rs761717058
|
0.00029
|
NM_005050.4(ABCD4):c.1589A>T (p.Gln530Leu)
|
rs142696207
|
0.00029
|
NM_015702.3(MMADHC):c.557T>C (p.Met186Thr)
|
rs61755260
|
0.00029
|
NM_017875.4(SLC25A38):c.-69C>T
|
rs886058470
|
0.00029
|
NM_020937.4(FANCM):c.1597C>T (p.Arg533Cys)
|
rs146151355
|
0.00029
|
NM_032043.3(BRIP1):c.-237dup
|
rs112243287
|
0.00029
|
NM_032043.3(BRIP1):c.173G>A (p.Cys58Tyr)
|
rs749920386
|
0.00029
|
NM_032444.4(SLX4):c.*311G>A
|
rs749668095
|
0.00029
|
NM_032444.4(SLX4):c.2210G>A (p.Arg737His)
|
rs146901714
|
0.00029
|
NM_080669.6(SLC46A1):c.*3389G>A
|
rs146812537
|
0.00029
|
NM_138477.4(CDAN1):c.57G>C (p.Val19=)
|
rs150418267
|
0.00029
|
NM_000289.6(PFKM):c.1727A>T (p.Tyr576Phe)
|
rs370424471
|
0.00028
|
NM_000373.4(UMPS):c.*4672C>T
|
rs549550940
|
0.00028
|
NM_000375.3(UROS):c.106T>G (p.Leu36Val)
|
rs200858139
|
0.00028
|
NM_001081.4(CUBN):c.9664-9T>G
|
rs145383974
|
0.00028
|
NM_001113378.2(FANCI):c.158G>C (p.Gly53Ala)
|
rs149223439
|
0.00028
|
NM_001386140.1(MTTP):c.111G>A (p.Thr37=)
|
rs147921439
|
0.00028
|
NM_001386140.1(MTTP):c.2657C>T (p.Pro886Leu)
|
rs144600401
|
0.00028
|
NM_004629.2(FANCG):c.1545C>T (p.Ala515=)
|
rs201422773
|
0.00028
|
NM_006363.6(SEC23B):c.1335G>A (p.Thr445=)
|
rs146587686
|
0.00028
|
NM_006363.6(SEC23B):c.569G>A (p.Arg190Gln)
|
rs201160833
|
0.00028
|
NM_021922.3(FANCE):c.31G>A (p.Ala11Thr)
|
rs753304968
|
0.00028
|
NM_032043.3(BRIP1):c.*1868G>T
|
rs184666432
|
0.00028
|
NM_000136.3(FANCC):c.*431T>C
|
rs550009657
|
0.00027
|
NM_001014.5(RPS10):c.-27C>A
|
rs749286823
|
0.00027
|
NM_001081.4(CUBN):c.3646C>G (p.Pro1216Ala)
|
rs145881708
|
0.00027
|
NM_001083116.3(PRF1):c.1070G>A (p.Arg357Gln)
|
rs140787739
|
0.00027
|
NM_001113378.2(FANCI):c.528A>G (p.Gln176=)
|
rs145939211
|
0.00027
|
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser)
|
rs104895032
|
0.00027
|
NM_003126.4(SPTA1):c.1266C>T (p.Tyr422=)
|
rs369020197
|
0.00027
|
NM_005236.3(ERCC4):c.211T>C (p.Tyr71His)
|
rs145315496
|
0.00027
|
NM_020937.4(FANCM):c.4366C>T (p.Arg1456Cys)
|
rs200360968
|
0.00027
|
NM_021922.3(FANCE):c.1116C>T (p.Ile372=)
|
rs143234424
|
0.00027
|
NM_025215.6(PUS1):c.*152A>T
|
rs188546423
|
0.00027
|
NM_032043.3(BRIP1):c.3559G>A (p.Ala1187Thr)
|
rs367610893
|
0.00027
|
NM_032444.4(SLX4):c.-416G>A
|
rs528320603
|
0.00027
|
NM_000037.4(ANK1):c.876G>A (p.Leu292=)
|
rs373060967
|
0.00026
|
NM_000059.4(BRCA2):c.2412A>G (p.Glu804=)
|
rs587780866
|
0.00026
|
NM_000059.4(BRCA2):c.4686A>G (p.Gln1562=)
|
rs28897730
|
0.00026
|
NM_000096.4(CP):c.2565C>T (p.Leu855=)
|
rs781672409
|
0.00026
|
NM_000135.4(FANCA):c.2390C>T (p.Ala797Val)
|
rs138248569
|
0.00026
|
NM_000186.4(CFH):c.3079G>C (p.Ala1027Pro)
|
rs373385518
|
0.00026
|
NM_000298.6(PKLR):c.6G>A (p.Ser2=)
|
rs139697646
|
0.00026
|
NM_000342.4(SLC4A1):c.1151G>A (p.Arg384His)
|
rs13306776
|
0.00026
|
NM_000355.4(TCN2):c.539T>C (p.Leu180Pro)
|
rs142651651
|
0.00026
|
NM_000355.4(TCN2):c.903C>T (p.Tyr301=)
|
rs146036025
|
0.00026
|
NM_001018115.3(FANCD2):c.1015G>A (p.Gly339Ser)
|
rs144332316
|
0.00026
|
NM_001081.4(CUBN):c.2932C>A (p.His978Asn)
|
rs369981313
|
0.00026
|
NM_001081.4(CUBN):c.4167C>T (p.Tyr1389=)
|
rs150510291
|
0.00026
|
NM_001081.4(CUBN):c.6560C>T (p.Ser2187Leu)
|
rs143899993
|
0.00026
|
NM_001114134.2(EPB42):c.1032T>C (p.Asp344=)
|
rs150481419
|
0.00026
|
NM_001355436.2(SPTB):c.871G>A (p.Gly291Ser)
|
rs143599352
|
0.00026
|
NM_003126.4(SPTA1):c.4240C>T (p.Arg1414Cys)
|
rs201399968
|
0.00026
|
NM_020937.4(FANCM):c.163G>A (p.Asp55Asn)
|
rs148017562
|
0.00026
|
NM_020937.4(FANCM):c.3235A>T (p.Ser1079Cys)
|
rs146065064
|
0.00026
|
NM_021922.3(FANCE):c.206G>A (p.Arg69Gln)
|
rs758238449
|
0.00026
|
NM_022725.3(FANCF):c.-31T>C
|
rs202069513
|
0.00026
|
NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp)
|
rs150624408
|
0.00026
|
NM_032444.4(SLX4):c.86G>A (p.Arg29His)
|
rs149117119
|
0.00026
|
NM_000037.4(ANK1):c.447G>T (p.Ala149=)
|
rs140550365
|
0.00025
|
NM_000096.4(CP):c.2158C>T (p.Arg720Trp)
|
rs145784949
|
0.00025
|
NM_000096.4(CP):c.2518C>G (p.Gln840Glu)
|
rs142139927
|
0.00025
|
NM_000135.4(FANCA):c.2101A>G (p.Lys701Glu)
|
rs56369086
|
0.00025
|
NM_000135.4(FANCA):c.2799A>G (p.Leu933=)
|
rs148250597
|
0.00025
|
NM_000186.4(CFH):c.3226C>G (p.Gln1076Glu)
|
rs62625015
|
0.00025
|
NM_000254.3(MTR):c.2014G>A (p.Glu672Lys)
|
rs142774813
|
0.00025
|
NM_001243177.4(ALDOA):c.679C>T (p.Arg227Cys)
|
rs374042346
|
0.00025
|
NM_002454.3(MTRR):c.906T>C (p.Asn302=)
|
rs144729918
|
0.00025
|
NM_002485.5(NBN):c.1405G>T (p.Asp469Tyr)
|
rs148205441
|
0.00025
|
NM_006947.4(SRP72):c.*624A>G
|
rs867685822
|
0.00025
|
NM_017875.4(SLC25A38):c.-225G>A
|
rs370977005
|
0.00025
|
NM_020937.4(FANCM):c.1249G>C (p.Glu417Gln)
|
rs141729590
|
0.00025
|
NM_021922.3(FANCE):c.53C>T (p.Pro18Leu)
|
rs991748781
|
0.00025
|
NM_025215.6(PUS1):c.*164C>T
|
rs554815640
|
0.00025
|
NM_032444.4(SLX4):c.5212G>T (p.Gly1738Trp)
|
rs556217576
|
0.00025
|
NM_058216.3(RAD51C):c.922G>T (p.Ala308Ser)
|
rs185057307
|
0.00025
|
NM_000037.4(ANK1):c.2713G>A (p.Val905Met)
|
rs141069023
|
0.00024
|
NM_000135.4(FANCA):c.*819T>C
|
rs186050933
|
0.00024
|
NM_000135.4(FANCA):c.2589C>A (p.Gly863=)
|
rs72807571
|
0.00024
|
NM_000135.4(FANCA):c.41A>G (p.Asp14Gly)
|
rs762648754
|
0.00024
|
NM_000342.4(SLC4A1):c.1972G>A (p.Glu658Lys)
|
rs75731670
|
0.00024
|
NM_001018115.3(FANCD2):c.2872G>A (p.Val958Met)
|
rs372574627
|
0.00024
|
NM_001113378.2(FANCI):c.1749T>C (p.Phe583=)
|
rs201037656
|
0.00024
|
NM_001114134.2(EPB42):c.10+91G>A
|
rs150530456
|
0.00024
|
NM_001114134.2(EPB42):c.1487C>T (p.Thr496Met)
|
rs199787216
|
0.00024
|
NM_001243177.4(ALDOA):c.*96C>T
|
rs886051897
|
0.00024
|
NM_001271696.3(ABCB7):c.*113A>G
|
rs916633787
|
0.00024
|
NM_001374504.1(TMPRSS6):c.2058C>G (p.Phe686Leu)
|
rs375189210
|
0.00024
|
NM_003126.4(SPTA1):c.3188+8C>G
|
rs199558386
|
0.00024
|
NM_003126.4(SPTA1):c.6549-4C>G
|
rs199640503
|
0.00024
|
NM_005236.3(ERCC4):c.1102G>A (p.Glu368Lys)
|
rs148933357
|
0.00024
|
NM_020937.4(FANCM):c.4106A>T (p.Asn1369Ile)
|
rs148154311
|
0.00024
|
NM_022725.4(FANCF):c.153T>A (p.His51Gln)
|
rs142247452
|
0.00024
|
NM_022725.4(FANCF):c.573C>G (p.Ser191Arg)
|
rs146219377
|
0.00024
|
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala)
|
rs28903098
|
0.00024
|
NM_032444.4(SLX4):c.1394C>T (p.Pro465Leu)
|
rs372128800
|
0.00024
|
NM_032444.4(SLX4):c.4590G>A (p.Met1530Ile)
|
rs147315419
|
0.00024
|
NM_032444.4(SLX4):c.742G>A (p.Glu248Lys)
|
rs148547201
|
0.00024
|
NM_058216.3(RAD51C):c.145+12T>G
|
rs377297129
|
0.00024
|
NM_198253.3(TERT):c.*237C>T
|
rs567092780
|
0.00024
|
NM_206965.2(FTCD):c.149C>T (p.Thr50Ile)
|
rs199769706
|
0.00024
|
NM_000037.4(ANK1):c.3298G>A (p.Val1100Ile)
|
rs147741842
|
0.00023
|
NM_000186.4(CFH):c.3291G>A (p.Thr1097=)
|
rs409953
|
0.00023
|
NM_000384.3(APOB):c.10882A>T (p.Asn3628Tyr)
|
rs141982176
|
0.00023
|
NM_000384.3(APOB):c.5763A>G (p.Gly1921=)
|
rs141022509
|
0.00023
|
NM_000384.3(APOB):c.7181T>C (p.Val2394Ala)
|
rs148429884
|
0.00023
|
NM_001018115.3(FANCD2):c.2181G>A (p.Pro727=)
|
rs560600678
|
0.00023
|
NM_001114134.2(EPB42):c.556G>C (p.Gly186Arg)
|
rs199634098
|
0.00023
|
NM_002454.3(MTRR):c.2071C>T (p.Arg691Cys)
|
rs148414435
|
0.00023
|
NM_032043.3(BRIP1):c.*3465A>T
|
rs539412199
|
0.00023
|
NM_080669.6(SLC46A1):c.*2262G>A
|
rs782425144
|
0.00023
|
NM_138477.4(CDAN1):c.1058-11T>G
|
rs372671684
|
0.00023
|
NM_138477.4(CDAN1):c.188G>A (p.Arg63His)
|
rs772157159
|
0.00023
|
NM_138477.4(CDAN1):c.2088G>A (p.Leu696=)
|
rs148759214
|
0.00023
|
NM_138477.4(CDAN1):c.2837G>A (p.Arg946Gln)
|
rs142833783
|
0.00023
|
NM_198253.3(TERT):c.1931C>T (p.Thr644Met)
|
rs201927653
|
0.00023
|
NM_000037.4(ANK1):c.3229G>C (p.Gly1077Arg)
|
rs200263785
|
0.00022
|
NM_000059.4(BRCA2):c.9502-12T>G
|
rs81002803
|
0.00022
|
NM_000135.4(FANCA):c.*146C>T
|
rs556325258
|
0.00022
|
NM_000135.4(FANCA):c.1871C>G (p.Ala624Gly)
|
rs146491000
|
0.00022
|
NM_000135.4(FANCA):c.3801C>T (p.Gly1267=)
|
rs143772894
|
0.00022
|
NM_000135.4(FANCA):c.3829-9G>A
|
rs776077648
|
0.00022
|
NM_000254.3(MTR):c.3770G>T (p.Gly1257Val)
|
rs374409316
|
0.00022
|
NM_000289.6(PFKM):c.*452T>C
|
rs563335260
|
0.00022
|
NM_000289.6(PFKM):c.2201A>G (p.His734Arg)
|
rs141570669
|
0.00022
|
NM_000298.6(PKLR):c.965+12G>A
|
rs200039500
|
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_000617.3(SLC11A2):c.*1795G>A
|
rs750648046
|
0.00022
|
NM_001081.4(CUBN):c.8071G>A (p.Gly2691Arg)
|
rs1801237
|
0.00022
|
NM_001113378.2(FANCI):c.3236C>T (p.Thr1079Met)
|
rs191202700
|
0.00022
|
NM_004629.2(FANCG):c.1453C>T (p.Arg485Trp)
|
rs201884798
|
0.00022
|
NM_005050.4(ABCD4):c.1465G>A (p.Asp489Asn)
|
rs139901585
|
0.00022
|
NM_006947.4(SRP72):c.*1385A>G
|
rs754461786
|
0.00022
|
NM_022725.4(FANCF):c.647G>C (p.Arg216Pro)
|
rs192534185
|
0.00022
|
NM_138477.4(CDAN1):c.2008-8C>T
|
rs201733620
|
0.00022
|
NM_138477.4(CDAN1):c.256C>T (p.Pro86Ser)
|
rs543791953
|
0.00022
|
NM_174936.4(PCSK9):c.*950C>T
|
rs72646537
|
0.00022
|
NM_198253.3(TERT):c.*83G>A
|
rs533940688
|
0.00022
|
NM_206965.2(FTCD):c.430G>A (p.Gly144Arg)
|
rs138139105
|
0.00022
|
NM_000037.4(ANK1):c.*32G>A
|
rs117166178
|
0.00021
|
NM_000037.4(ANK1):c.499G>C (p.Gly167Arg)
|
rs201024919
|
0.00021
|
NM_000037.4(ANK1):c.669G>A (p.Gln223=)
|
rs375060699
|
0.00021
|
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp)
|
rs80358755
|
0.00021
|
NM_000059.4(BRCA2):c.8154T>C (p.Ile2718=)
|
rs148880015
|
0.00021
|
NM_000096.4(CP):c.1104G>C (p.Gly368=)
|
rs142503847
|
0.00021
|
NM_000135.4(FANCA):c.3723C>T (p.Asn1241=)
|
rs202107465
|
0.00021
|
NM_000135.4(FANCA):c.4302C>T (p.Ala1434=)
|
rs142784426
|
0.00021
|
NM_000289.6(PFKM):c.820A>G (p.Ile274Val)
|
rs142868881
|
0.00021
|
NM_000298.6(PKLR):c.507G>A (p.Gly169=)
|
rs201674983
|
0.00021
|
NM_000355.4(TCN2):c.522C>T (p.Ser174=)
|
rs537115632
|
0.00021
|
NM_000617.3(SLC11A2):c.*1057C>T
|
rs767436028
|
0.00021
|
NM_001040436.3(YARS2):c.*24A>G
|
rs368305831
|
0.00021
|
NM_001081.4(CUBN):c.4702G>A (p.Asp1568Asn)
|
rs533512333
|
0.00021
|
NM_001081.4(CUBN):c.9079G>A (p.Gly3027Arg)
|
rs150202444
|
0.00021
|
NM_001374504.1(TMPRSS6):c.1493C>T (p.Pro498Leu)
|
rs138915369
|
0.00021
|
NM_001374504.1(TMPRSS6):c.632-8C>T
|
rs375234781
|
0.00021
|
NM_001386140.1(MTTP):c.*989T>C
|
rs183510498
|
0.00021
|
NM_002454.3(MTRR):c.505G>A (p.Val169Met)
|
rs147742177
|
0.00021
|
NM_002485.5(NBN):c.786C>A (p.Phe262Leu)
|
rs372159380
|
0.00021
|
NM_003126.4(SPTA1):c.6851A>G (p.Asp2284Gly)
|
rs374589766
|
0.00021
|
NM_021922.3(FANCE):c.65T>C (p.Leu22Pro)
|
rs950301098
|
0.00021
|
NM_024675.4(PALB2):c.298C>T (p.Leu100Phe)
|
rs61756147
|
0.00021
|
NM_032444.4(SLX4):c.-271G>A
|
rs149773885
|
0.00021
|
NM_138477.4(CDAN1):c.2016G>A (p.Pro672=)
|
rs371799686
|
0.00021
|
NM_182916.3(TRNT1):c.107A>T (p.Glu36Val)
|
rs138682354
|
0.00021
|
NM_000037.4(ANK1):c.*385G>T
|
rs1343502294
|
0.00020
|
NM_000037.4(ANK1):c.2096G>A (p.Arg699Gln)
|
rs150032875
|
0.00020
|
NM_000254.3(MTR):c.1982T>C (p.Ile661Thr)
|
rs148897041
|
0.00020
|
NM_000289.6(PFKM):c.52A>G (p.Ile18Val)
|
rs150405056
|
0.00020
|
NM_001063.4(TF):c.281A>G (p.Asn94Ser)
|
rs200551981
|
0.00020
|
NM_001081.4(CUBN):c.6344A>G (p.Asn2115Ser)
|
rs143835350
|
0.00020
|
NM_001113378.2(FANCI):c.1052A>T (p.Gln351Leu)
|
rs147873714
|
0.00020
|
NM_001113378.2(FANCI):c.1699-3C>G
|
rs372441627
|
0.00020
|
NM_005142.3(CBLIF):c.1130C>T (p.Ala377Val)
|
rs370902375
|
0.00020
|
NM_020937.4(FANCM):c.4627C>T (p.Leu1543Phe)
|
rs139536545
|
0.00020
|
NM_020937.4(FANCM):c.504G>C (p.Met168Ile)
|
rs376316183
|
0.00020
|
NM_021922.3(FANCE):c.1610G>T (p.Ter537Leu)
|
rs139547269
|
0.00020
|
NM_022725.4(FANCF):c.465A>T (p.Pro155=)
|
rs201215734
|
0.00020
|
NM_032043.3(BRIP1):c.*2812A>G
|
rs112375062
|
0.00020
|
NM_080669.6(SLC46A1):c.329G>A (p.Ser110Asn)
|
rs201076728
|
0.00020
|
NM_198253.3(TERT):c.2391C>G (p.Ser797=)
|
rs377216965
|
0.00020
|
NM_000037.4(ANK1):c.*1952G>A
|
rs886062931
|
0.00019
|
NM_000037.4(ANK1):c.3282G>A (p.Thr1094=)
|
rs144821829
|
0.00019
|
NM_000037.4(ANK1):c.3533-10G>A
|
rs374510116
|
0.00019
|
NM_000037.4(ANK1):c.3955C>T (p.Arg1319Trp)
|
rs113948846
|
0.00019
|
NM_000059.4(BRCA2):c.8905G>A (p.Val2969Met)
|
rs59004709
|
0.00019
|
NM_000096.4(CP):c.1217C>A (p.Ala406Glu)
|
rs147034302
|
0.00019
|
NM_000135.4(FANCA):c.*104G>A
|
rs55859244
|
0.00019
|
NM_000135.4(FANCA):c.*317G>A
|
rs201817705
|
0.00019
|
NM_000135.4(FANCA):c.157A>C (p.Ser53Arg)
|
rs61757383
|
0.00019
|
NM_000135.4(FANCA):c.3551G>C (p.Arg1184Pro)
|
rs147672303
|
0.00019
|
NM_000136.3(FANCC):c.*254G>A
|
rs773331481
|
0.00019
|
NM_000136.3(FANCC):c.*476A>T
|
rs756786451
|
0.00019
|
NM_000136.3(FANCC):c.29G>A (p.Cys10Tyr)
|
rs143152201
|
0.00019
|
NM_000186.4(CFH):c.1198C>A (p.Gln400Lys)
|
rs201671665
|
0.00019
|
NM_000298.6(PKLR):c.*499G>A
|
rs777573500
|
0.00019
|
NM_000298.6(PKLR):c.*866T>C
|
rs886045347
|
0.00019
|
NM_000355.4(TCN2):c.*405T>C
|
rs539828054
|
0.00019
|
NM_000355.4(TCN2):c.1017C>G (p.Leu339=)
|
rs35997415
|
0.00019
|
NM_000373.4(UMPS):c.*3701C>T
|
rs768769772
|
0.00019
|
NM_001018113.3(FANCB):c.1720T>A (p.Cys574Ser)
|
rs200303151
|
0.00019
|
NM_001018115.3(FANCD2):c.122T>C (p.Val41Ala)
|
rs139025231
|
0.00019
|
NM_001022.3(RPS19):c.-50G>A
|
rs886634767
|
0.00019
|
NM_001081.4(CUBN):c.10293C>T (p.His3431=)
|
rs1266678482
|
0.00019
|
NM_001081.4(CUBN):c.388-3C>T
|
rs367626184
|
0.00019
|
NM_001081.4(CUBN):c.6020C>T (p.Thr2007Met)
|
rs140202552
|
0.00019
|
NM_001081.4(CUBN):c.6479A>G (p.Asp2160Gly)
|
rs144704318
|
0.00019
|
NM_001081.4(CUBN):c.8203G>T (p.Asp2735Tyr)
|
rs149802222
|
0.00019
|
NM_001081.4(CUBN):c.8412T>C (p.Gly2804=)
|
rs139990077
|
0.00019
|
NM_001081.4(CUBN):c.9597C>T (p.Leu3199=)
|
rs200457480
|
0.00019
|
NM_001113378.2(FANCI):c.1264G>A (p.Gly422Arg)
|
rs146040966
|
0.00019
|
NM_001113378.2(FANCI):c.1399G>A (p.Val467Ile)
|
rs199726965
|
0.00019
|
NM_001113378.2(FANCI):c.1963G>A (p.Gly655Arg)
|
rs138026584
|
0.00019
|
NM_001113378.2(FANCI):c.2041A>C (p.Thr681Pro)
|
rs554876309
|
0.00019
|
NM_001113378.2(FANCI):c.3419C>T (p.Thr1140Ile)
|
rs142969866
|
0.00019
|
NM_001113378.2(FANCI):c.467G>A (p.Cys156Tyr)
|
rs112387610
|
0.00019
|
NM_001142285.2(RPS24):c.409G>A (p.Gly137Arg)
|
rs763683559
|
0.00019
|
NM_001243177.4(ALDOA):c.1068C>T (p.Tyr356=)
|
rs200761497
|
0.00019
|
NM_001243177.4(ALDOA):c.668A>G (p.Asn223Ser)
|
rs142957871
|
0.00019
|
NM_001386140.1(MTTP):c.799T>C (p.Leu267=)
|
rs7672497
|
0.00019
|
NM_003126.4(SPTA1):c.6378G>T (p.Val2126=)
|
rs141823269
|
0.00019
|
NM_005050.4(ABCD4):c.1325G>A (p.Arg442Gln)
|
rs199986349
|
0.00019
|
NM_005142.3(CBLIF):c.26T>C (p.Leu9Pro)
|
rs146699265
|
0.00019
|
NM_005236.3(ERCC4):c.1581A>T (p.Glu527Asp)
|
rs200649435
|
0.00019
|
NM_005334.3(HCFC1):c.905-3C>T
|
rs200367055
|
0.00019
|
NM_006996.3(SLC19A2):c.*638G>A
|
rs757466309
|
0.00019
|
NM_015506.3(MMACHC):c.472T>C (p.Phe158Leu)
|
rs201312386
|
0.00019
|
NM_021922.3(FANCE):c.-197C>T
|
rs45570533
|
0.00019
|
NM_021922.3(FANCE):c.-19G>C
|
rs13215706
|
0.00019
|
NM_021922.3(FANCE):c.1114-4G>A
|
rs368422520
|
0.00019
|
NM_021922.3(FANCE):c.1591T>A (p.Leu531Met)
|
rs147390386
|
0.00019
|
NM_032043.3(BRIP1):c.36G>T (p.Gly12=)
|
rs45566938
|
0.00019
|
NM_032043.3(BRIP1):c.380-5A>G
|
rs587782131
|
0.00019
|
NM_032043.3(BRIP1):c.628C>T (p.Pro210Ser)
|
rs150313156
|
0.00019
|
NM_032444.4(SLX4):c.*374C>T
|
rs369843531
|
0.00019
|
NM_032444.4(SLX4):c.-21G>C
|
rs200717103
|
0.00019
|
NM_032444.4(SLX4):c.1499C>T (p.Thr500Met)
|
rs377440877
|
0.00019
|
NM_032444.4(SLX4):c.1829A>G (p.Gln610Arg)
|
rs544935776
|
0.00019
|
NM_032444.4(SLX4):c.5264C>T (p.Ala1755Val)
|
rs372921011
|
0.00019
|
NM_080669.6(SLC46A1):c.*4071G>A
|
rs908290461
|
0.00019
|
NM_174936.4(PCSK9):c.996+8del
|
rs768213924
|
0.00019
|
NM_182916.3(TRNT1):c.383A>G (p.Asp128Gly)
|
rs148398677
|
0.00019
|
NM_000175.5(GPI):c.1270-9G>A
|
rs191051353
|
0.00018
|
NM_000355.4(TCN2):c.572A>G (p.His191Arg)
|
rs151172486
|
0.00018
|
NM_000373.4(UMPS):c.*4116G>A
|
rs886057894
|
0.00018
|
NM_001081.4(CUBN):c.349-9T>C
|
rs375431948
|
0.00018
|
NM_001081.4(CUBN):c.8084G>A (p.Gly2695Asp)
|
rs142667203
|
0.00018
|
NM_001113378.2(FANCI):c.3721G>A (p.Ala1241Thr)
|
rs140357734
|
0.00018
|
NM_001374504.1(TMPRSS6):c.451G>A (p.Glu151Lys)
|
rs752163489
|
0.00018
|
NM_002485.5(NBN):c.1999T>C (p.Ser667Pro)
|
rs587780091
|
0.00018
|
NM_003126.4(SPTA1):c.345G>A (p.Arg115=)
|
rs200343758
|
0.00018
|
NM_003126.4(SPTA1):c.5081G>A (p.Arg1694His)
|
rs201822255
|
0.00018
|
NM_003126.4(SPTA1):c.957+7C>T
|
rs369937649
|
0.00018
|
NM_005236.3(ERCC4):c.1606G>C (p.Val536Leu)
|
rs143347563
|
0.00018
|
NM_018062.4(FANCL):c.142C>G (p.Leu48Val)
|
rs148516173
|
0.00018
|
NM_018062.4(FANCL):c.580A>G (p.Ile194Val)
|
rs542006141
|
0.00018
|
NM_030943.4(AMN):c.989C>A (p.Ala330Glu)
|
rs542237999
|
0.00018
|
NM_032444.4(SLX4):c.4580C>T (p.Pro1527Leu)
|
rs149362820
|
0.00018
|
NM_198253.3(TERT):c.604G>A (p.Ala202Thr)
|
rs121918661
|
0.00018
|
NM_206965.2(FTCD):c.161C>T (p.Pro54Leu)
|
rs374193438
|
0.00018
|
NM_000059.4(BRCA2):c.10203G>A (p.Thr3401=)
|
rs147854265
|
0.00017
|
NM_000096.4(CP):c.944A>G (p.Asn315Ser)
|
rs370682704
|
0.00017
|
NM_000135.4(FANCA):c.308C>T (p.Ser103Leu)
|
rs147176389
|
0.00017
|
NM_000135.4(FANCA):c.3848A>G (p.Lys1283Arg)
|
rs146975341
|
0.00017
|
NM_000135.4(FANCA):c.874C>G (p.His292Asp)
|
rs200220791
|
0.00017
|
NM_000186.4(CFH):c.2675C>T (p.Ala892Val)
|
rs151068461
|
0.00017
|
NM_000373.4(UMPS):c.*4065C>T
|
rs759188574
|
0.00017
|
NM_000384.3(APOB):c.13183G>A (p.Gly4395Ser)
|
rs151333262
|
0.00017
|
NM_001081.4(CUBN):c.*940A>G
|
rs560609264
|
0.00017
|
NM_001081.4(CUBN):c.3995A>G (p.Asn1332Ser)
|
rs370803308
|
0.00017
|
NM_001081.4(CUBN):c.5796A>G (p.Glu1932=)
|
rs376536525
|
0.00017
|
NM_001374504.1(TMPRSS6):c.-1-218C>G
|
rs576482552
|
0.00017
|
NM_003126.4(SPTA1):c.224T>C (p.Ile75Thr)
|
rs146993090
|
0.00017
|
NM_003126.4(SPTA1):c.2506A>G (p.Arg836Gly)
|
rs201844450
|
0.00017
|
NM_005334.3(HCFC1):c.4417A>G (p.Thr1473Ala)
|
rs201714172
|
0.00017
|
NM_005431.2(XRCC2):c.613T>G (p.Ser205Ala)
|
rs56103026
|
0.00017
|
NM_006363.6(SEC23B):c.1809A>G (p.Ser603=)
|
rs139882548
|
0.00017
|
NM_006996.3(SLC19A2):c.212A>G (p.Asn71Ser)
|
rs149595229
|
0.00017
|
NM_018368.4(LMBRD1):c.430A>G (p.Thr144Ala)
|
rs12214456
|
0.00017
|
NM_020937.4(FANCM):c.2809C>T (p.Leu937Phe)
|
rs138274490
|
0.00017
|
NM_020937.4(FANCM):c.5848T>G (p.Leu1950Val)
|
rs146436929
|
0.00017
|
NM_021922.3(FANCE):c.-167C>T
|
rs911947663
|
0.00017
|
NM_022725.4(FANCF):c.452A>T (p.Tyr151Phe)
|
rs952309844
|
0.00017
|
NM_025215.6(PUS1):c.*120G>A
|
rs569395844
|
0.00017
|
NM_032043.3(BRIP1):c.854A>G (p.His285Arg)
|
rs141055990
|
0.00017
|
NM_032444.4(SLX4):c.537G>T (p.Glu179Asp)
|
rs758789462
|
0.00017
|
NM_058216.3(RAD51C):c.640C>T (p.Arg214Cys)
|
rs140804406
|
0.00017
|
NM_058216.3(RAD51C):c.890T>C (p.Leu297Pro)
|
rs143026267
|
0.00017
|
NM_080669.6(SLC46A1):c.*4091C>A
|
rs1046966571
|
0.00017
|
NM_000037.4(ANK1):c.5376C>T (p.Thr1792=)
|
rs147232364
|
0.00016
|
NM_000135.4(FANCA):c.116G>A (p.Arg39Lys)
|
rs151089298
|
0.00016
|
NM_000135.4(FANCA):c.1226-13G>C
|
rs377159744
|
0.00016
|
NM_000135.4(FANCA):c.2504+6C>G
|
rs749556479
|
0.00016
|
NM_000135.4(FANCA):c.3348+7G>T
|
rs185527578
|
0.00016
|
NM_000135.4(FANCA):c.688G>A (p.Val230Ile)
|
rs144560850
|
0.00016
|
NM_000136.3(FANCC):c.*483A>G
|
rs548064261
|
0.00016
|
NM_000254.3(MTR):c.13C>A (p.Leu5Ile)
|
rs139083778
|
0.00016
|
NM_000342.4(SLC4A1):c.*544C>T
|
rs910311843
|
0.00016
|
NM_000342.4(SLC4A1):c.1671G>A (p.Val557=)
|
rs147838240
|
0.00016
|
NM_000402.4(G6PD):c.556G>A (p.Glu186Lys)
|
rs137852313
|
0.00016
|
NM_000988.5(RPL27):c.403C>T (p.Arg135Trp)
|
rs146328911
|
0.00016
|
NM_001018115.3(FANCD2):c.1116C>T (p.Ala372=)
|
rs370078641
|
0.00016
|
NM_001018115.3(FANCD2):c.1118C>T (p.Ser373Leu)
|
rs372534421
|
0.00016
|
NM_001018115.3(FANCD2):c.1348A>G (p.Ile450Val)
|
rs145129959
|
0.00016
|
NM_001018115.3(FANCD2):c.2555C>G (p.Pro852Arg)
|
rs375827113
|
0.00016
|
NM_001018115.3(FANCD2):c.2801C>G (p.Ser934Cys)
|
rs200971205
|
0.00016
|
NM_001063.4(TF):c.1095G>A (p.Ala365=)
|
rs575999145
|
0.00016
|
NM_001063.4(TF):c.165T>A (p.Ser55Arg)
|
rs8177318
|
0.00016
|
NM_001081.4(CUBN):c.1604A>G (p.Tyr535Cys)
|
rs139848689
|
0.00016
|
NM_001081.4(CUBN):c.2778T>G (p.Ser926Arg)
|
rs371127860
|
0.00016
|
NM_001081.4(CUBN):c.4740G>A (p.Thr1580=)
|
rs200115233
|
0.00016
|
NM_001081.4(CUBN):c.6260C>G (p.Ser2087Cys)
|
rs376641725
|
0.00016
|
NM_001113378.2(FANCI):c.1657C>A (p.Leu553Met)
|
rs374363189
|
0.00016
|
NM_001113378.2(FANCI):c.1939T>C (p.Leu647=)
|
rs150231327
|
0.00016
|
NM_001113378.2(FANCI):c.2543A>G (p.Gln848Arg)
|
rs555904350
|
0.00016
|
NM_001243177.4(ALDOA):c.898C>T (p.His300Tyr)
|
rs144693278
|
0.00016
|
NM_001355436.2(SPTB):c.5680G>A (p.Gly1894Arg)
|
rs116677071
|
0.00016
|
NM_001360016.2(G6PD):c.1152G>C (p.Gln384His)
|
rs368832453
|
0.00016
|
NM_001374504.1(TMPRSS6):c.2374G>A (p.Gly792Ser)
|
rs140207191
|
0.00016
|
NM_002485.5(NBN):c.1343A>T (p.Gln448Leu)
|
rs146403088
|
0.00016
|
NM_003126.4(SPTA1):c.1396G>C (p.Asp466His)
|
rs201669174
|
0.00016
|
NM_003126.4(SPTA1):c.2654G>A (p.Arg885His)
|
rs370989483
|
0.00016
|
NM_003126.4(SPTA1):c.3841C>T (p.Arg1281Cys)
|
rs199685020
|
0.00016
|
NM_003126.4(SPTA1):c.452G>A (p.Gly151Asp)
|
rs199725919
|
0.00016
|
NM_005050.4(ABCD4):c.565A>G (p.Ser189Gly)
|
rs183607306
|
0.00016
|
NM_005431.2(XRCC2):c.283A>G (p.Ile95Val)
|
rs140214637
|
0.00016
|
NM_006363.6(SEC23B):c.1527G>A (p.Gln509=)
|
rs201943863
|
0.00016
|
NM_020937.4(FANCM):c.2003-3T>C
|
rs777799598
|
0.00016
|
NM_020937.4(FANCM):c.2518G>A (p.Val840Ile)
|
rs374402732
|
0.00016
|
NM_021922.3(FANCE):c.1069C>T (p.Leu357Phe)
|
rs185230199
|
0.00016
|
NM_025215.6(PUS1):c.*122C>T
|
rs747836180
|
0.00016
|
NM_032043.3(BRIP1):c.2440C>T (p.Arg814Cys)
|
rs201869624
|
0.00016
|
NM_032444.4(SLX4):c.3758C>T (p.Thr1253Ile)
|
rs202148391
|
0.00016
|
NM_032444.4(SLX4):c.3940C>A (p.Gln1314Lys)
|
rs142040192
|
0.00016
|
NM_032444.4(SLX4):c.4033C>T (p.Arg1345Cys)
|
rs200310925
|
0.00016
|
NM_032444.4(SLX4):c.4649G>A (p.Arg1550Gln)
|
rs369852048
|
0.00016
|
NM_032444.4(SLX4):c.653G>C (p.Arg218Thr)
|
rs756079504
|
0.00016
|
NM_198253.3(TERT):c.2371G>A (p.Val791Ile)
|
rs141425941
|
0.00016
|
NM_206965.2(FTCD):c.571G>A (p.Gly191Ser)
|
rs376603123
|
0.00016
|
NM_000059.4(BRCA2):c.*390A>G
|
rs56003538
|
0.00015
|
NM_000059.4(BRCA2):c.6560C>T (p.Pro2187Leu)
|
rs56019712
|
0.00015
|
NM_000096.4(CP):c.1191C>G (p.Asn397Lys)
|
rs146229133
|
0.00015
|
NM_000096.4(CP):c.151C>T (p.His51Tyr)
|
rs150681942
|
0.00015
|
NM_000135.4(FANCA):c.1413C>T (p.Val471=)
|
rs201561753
|
0.00015
|
NM_000135.4(FANCA):c.4015C>T (p.Leu1339Phe)
|
rs149775657
|
0.00015
|
NM_000135.4(FANCA):c.79+10C>T
|
rs573174362
|
0.00015
|
NM_000342.4(SLC4A1):c.*1273G>T
|
rs769140134
|
0.00015
|
NM_000342.4(SLC4A1):c.1258G>A (p.Ala420Thr)
|
rs142905862
|
0.00015
|
NM_000373.4(UMPS):c.1273+14C>T
|
rs374339942
|
0.00015
|
NM_001018115.3(FANCD2):c.808T>G (p.Leu270Val)
|
rs138587722
|
0.00015
|
NM_001081.4(CUBN):c.*162G>A
|
rs558891678
|
0.00015
|
NM_001081.4(CUBN):c.10076C>T (p.Ser3359Leu)
|
rs140566726
|
0.00015
|
NM_001081.4(CUBN):c.427A>C (p.Asn143His)
|
rs151018922
|
0.00015
|
NM_001083116.3(PRF1):c.674G>A (p.Arg225Gln)
|
rs140281371
|
0.00015
|
NM_001355436.2(SPTB):c.947C>T (p.Thr316Ile)
|
rs146651264
|
0.00015
|
NM_001386140.1(MTTP):c.1301C>T (p.Thr434Ile)
|
rs1467372840
|
0.00015
|
NM_006947.4(SRP72):c.*635C>T
|
rs200981113
|
0.00015
|
NM_018368.4(LMBRD1):c.*166A>G
|
rs960902863
|
0.00015
|
NM_018368.4(LMBRD1):c.384T>C (p.Asp128=)
|
rs143642515
|
0.00015
|
NM_020937.4(FANCM):c.3992C>T (p.Pro1331Leu)
|
rs149348098
|
0.00015
|
NM_020937.4(FANCM):c.5284C>A (p.Pro1762Thr)
|
rs376197752
|
0.00015
|
NM_032043.3(BRIP1):c.*3827T>C
|
rs1377513104
|
0.00015
|
NM_032444.4(SLX4):c.845C>T (p.Ser282Leu)
|
rs138618354
|
0.00015
|
NM_000037.4(ANK1):c.*795A>G
|
rs191346232
|
0.00014
|
NM_000037.4(ANK1):c.4341T>C (p.Ser1447=)
|
rs112677283
|
0.00014
|
NM_000037.4(ANK1):c.5045G>A (p.Arg1682Gln)
|
rs140231188
|
0.00014
|
NM_000037.4(ANK1):c.5601G>A (p.Ala1867=)
|
rs150975400
|
0.00014
|
NM_000037.4(ANK1):c.5614C>T (p.Arg1872Trp)
|
rs145235970
|
0.00014
|
NM_000135.4(FANCA):c.-18G>A
|
rs886038245
|
0.00014
|
NM_000135.4(FANCA):c.200C>A (p.Pro67Gln)
|
rs200698961
|
0.00014
|
NM_000135.4(FANCA):c.2949T>G (p.Ile983Met)
|
rs188695241
|
0.00014
|
NM_000136.3(FANCC):c.*249C>T
|
rs1046795121
|
0.00014
|
NM_000186.4(CFH):c.472G>A (p.Val158Ile)
|
rs141852866
|
0.00014
|
NM_000254.3(MTR):c.1039C>T (p.Pro347Ser)
|
rs140956566
|
0.00014
|
NM_000254.3(MTR):c.1855G>C (p.Val619Leu)
|
rs557853306
|
0.00014
|
NM_000298.6(PKLR):c.*735A>G
|
rs180944719
|
0.00014
|
NM_000355.4(TCN2):c.331G>A (p.Ala111Thr)
|
rs778150805
|
0.00014
|
NM_000373.4(UMPS):c.*2230C>T
|
rs565272396
|
0.00014
|
NM_000617.3(SLC11A2):c.*2332A>T
|
rs575495762
|
0.00014
|
NM_001018115.3(FANCD2):c.1933G>T (p.Asp645Tyr)
|
rs146496253
|
0.00014
|
NM_001018115.3(FANCD2):c.2418T>G (p.Pro806=)
|
rs61751577
|
0.00014
|
NM_001063.4(TF):c.1352T>C (p.Val451Ala)
|
rs142116896
|
0.00014
|
NM_001081.4(CUBN):c.*560C>T
|
rs45565931
|
0.00014
|
NM_001081.4(CUBN):c.-35G>C
|
rs376502722
|
0.00014
|
NM_001081.4(CUBN):c.1358C>A (p.Ser453Tyr)
|
rs368630481
|
0.00014
|
NM_001081.4(CUBN):c.1450A>G (p.Ser484Gly)
|
rs750735519
|
0.00014
|
NM_001081.4(CUBN):c.9035C>T (p.Pro3012Leu)
|
rs143741363
|
0.00014
|
NM_001081.4(CUBN):c.9418G>A (p.Ala3140Thr)
|
rs148491916
|
0.00014
|
NM_001081.4(CUBN):c.9922T>C (p.Trp3308Arg)
|
rs752843169
|
0.00014
|
NM_001083116.3(PRF1):c.1262T>G (p.Phe421Cys)
|
rs200534908
|
0.00014
|
NM_001113378.2(FANCI):c.-10A>G
|
rs372076895
|
0.00014
|
NM_001114134.2(EPB42):c.1165A>C (p.Ile389Leu)
|
rs141596199
|
0.00014
|
NM_001114636.1(FANCL):c.-26T>A
|
rs367703311
|
0.00014
|
NM_001374504.1(TMPRSS6):c.1633C>T (p.Arg545Trp)
|
rs140758411
|
0.00014
|
NM_001374504.1(TMPRSS6):c.411A>G (p.Gly137=)
|
rs375681801
|
0.00014
|
NM_001386140.1(MTTP):c.*436A>G
|
rs1450371659
|
0.00014
|
NM_002485.5(NBN):c.456G>A (p.Met152Ile)
|
rs201816949
|
0.00014
|
NM_003126.4(SPTA1):c.4850G>A (p.Arg1617Gln)
|
rs564887323
|
0.00014
|
NM_003126.4(SPTA1):c.749G>A (p.Arg250His)
|
rs759192785
|
0.00014
|
NM_004629.2(FANCG):c.-1C>T
|
rs587777946
|
0.00014
|
NM_004629.2(FANCG):c.881G>A (p.Gly294Glu)
|
rs17880082
|
0.00014
|
NM_005050.4(ABCD4):c.719+6T>C
|
rs755014125
|
0.00014
|
NM_006996.3(SLC19A2):c.688A>T (p.Ile230Phe)
|
rs770374931
|
0.00014
|
NM_015506.3(MMACHC):c.770C>T (p.Pro257Leu)
|
rs201601241
|
0.00014
|
NM_020937.4(FANCM):c.1741C>T (p.Arg581Cys)
|
rs202171930
|
0.00014
|
NM_020937.4(FANCM):c.291C>G (p.His97Gln)
|
rs369609574
|
0.00014
|
NM_020937.4(FANCM):c.4959G>A (p.Met1653Ile)
|
rs143152888
|
0.00014
|
NM_021922.3(FANCE):c.1141C>T (p.Arg381Cys)
|
rs371020401
|
0.00014
|
NM_024675.4(PALB2):c.2586+10A>G
|
rs373321719
|
0.00014
|
NM_032043.3(BRIP1):c.-30-3T>C
|
rs370728413
|
0.00014
|
NM_032444.4(SLX4):c.-398G>A
|
rs559269050
|
0.00014
|
NM_032444.4(SLX4):c.4868C>T (p.Ala1623Val)
|
rs200178217
|
0.00014
|
NM_032444.4(SLX4):c.832C>T (p.Arg278Trp)
|
rs141597706
|
0.00014
|
NM_058216.3(RAD51C):c.784T>G (p.Leu262Val)
|
rs149331537
|
0.00014
|
NM_182916.3(TRNT1):c.787G>A (p.Val263Met)
|
rs201873697
|
0.00014
|
NM_198253.3(TERT):c.645C>T (p.Gly215=)
|
rs768426236
|
0.00014
|
NM_000096.3(CP):c.-165C>T
|
rs536533840
|
0.00013
|
NM_000096.4(CP):c.93G>A (p.Thr31=)
|
rs201521886
|
0.00013
|
NM_000135.4(FANCA):c.*250G>A
|
rs557319516
|
0.00013
|
NM_000135.4(FANCA):c.3637C>G (p.Pro1213Ala)
|
rs200713354
|
0.00013
|
NM_000186.4(CFH):c.388G>A (p.Asp130Asn)
|
rs147002633
|
0.00013
|
NM_000254.3(MTR):c.3217T>C (p.Ser1073Pro)
|
rs111465715
|
0.00013
|
NM_000298.6(PKLR):c.1468C>T (p.Arg490Trp)
|
rs200133000
|
0.00013
|
NM_000342.3(SLC4A1):c.268G>A (p.Glu90Lys)
|
rs28929480
|
0.00013
|
NM_000342.4(SLC4A1):c.876+14G>A
|
rs571092411
|
0.00013
|
NM_000355.4(TCN2):c.756C>G (p.Phe252Leu)
|
rs142553702
|
0.00013
|
NM_000365.6(TPI1):c.543+6C>T
|
rs369693539
|
0.00013
|
NM_000617.3(SLC11A2):c.1032C>G (p.Leu344=)
|
rs370750890
|
0.00013
|
NM_001018115.3(FANCD2):c.1614A>C (p.Thr538=)
|
rs141824395
|
0.00013
|
NM_001018115.3(FANCD2):c.2976+6T>C
|
rs201875004
|
0.00013
|
NM_001040436.3(YARS2):c.934G>C (p.Asp312His)
|
rs190043383
|
0.00013
|
NM_001081.4(CUBN):c.4639C>T (p.Arg1547Cys)
|
rs375920680
|
0.00013
|
NM_001081.4(CUBN):c.5459A>G (p.Tyr1820Cys)
|
rs139369652
|
0.00013
|
NM_001081.4(CUBN):c.8680C>G (p.Pro2894Ala)
|
rs377159715
|
0.00013
|
NM_001113378.2(FANCI):c.2406T>C (p.Asp802=)
|
rs147934193
|
0.00013
|
NM_001243177.4(ALDOA):c.*76C>T
|
rs886051896
|
0.00013
|
NM_001243177.4(ALDOA):c.922G>A (p.Val308Ile)
|
rs142759891
|
0.00013
|
NM_001374504.1(TMPRSS6):c.1338G>A (p.Ser446=)
|
rs776737568
|
0.00013
|
NM_004629.2(FANCG):c.-56G>A
|
rs967151809
|
0.00013
|
NM_004629.2(FANCG):c.1367A>T (p.His456Leu)
|
rs148808709
|
0.00013
|
NM_005236.3(ERCC4):c.1633G>A (p.Gly545Arg)
|
rs773007457
|
0.00013
|
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp)
|
rs121913049
|
0.00013
|
NM_005431.2(XRCC2):c.620A>G (p.Glu207Gly)
|
rs61762969
|
0.00013
|
NM_015506.3(MMACHC):c.584G>C (p.Gly195Ala)
|
rs754862915
|
0.00013
|
NM_015702.3(MMADHC):c.-60G>A
|
rs886054923
|
0.00013
|
NM_015702.3(MMADHC):c.10-9C>G
|
rs376032730
|
0.00013
|
NM_017875.4(SLC25A38):c.462G>A (p.Gly154=)
|
rs369980078
|
0.00013
|
NM_018368.4(LMBRD1):c.*125A>G
|
rs886061689
|
0.00013
|
NM_018368.4(LMBRD1):c.1168A>G (p.Ile390Val)
|
rs140727621
|
0.00013
|
NM_020937.4(FANCM):c.2473A>C (p.Ser825Arg)
|
rs547223696
|
0.00013
|
NM_020937.4(FANCM):c.4187C>T (p.Pro1396Leu)
|
rs762637141
|
0.00013
|
NM_020937.4(FANCM):c.5440G>A (p.Glu1814Lys)
|
rs139074680
|
0.00013
|
NM_021922.3(FANCE):c.-100C>T
|
rs374493565
|
0.00013
|
NM_021922.3(FANCE):c.274C>T (p.Arg92Trp)
|
rs375195621
|
0.00013
|
NM_021922.3(FANCE):c.653A>G (p.Lys218Arg)
|
rs148638909
|
0.00013
|
NM_022725.4(FANCF):c.*2074A>G
|
rs576419372
|
0.00013
|
NM_032444.4(SLX4):c.*578G>A
|
rs781322530
|
0.00013
|
NM_032444.4(SLX4):c.2332G>C (p.Gly778Arg)
|
rs142722925
|
0.00013
|
NM_000059.4(BRCA2):c.1889C>T (p.Thr630Ile)
|
rs80358479
|
0.00012
|
NM_000135.4(FANCA):c.2266C>T (p.Arg756Cys)
|
rs556748657
|
0.00012
|
NM_000135.4(FANCA):c.4261-9C>G
|
rs368506826
|
0.00012
|
NM_000289.6(PFKM):c.139C>T (p.Arg47Cys)
|
rs774921979
|
0.00012
|
NM_000298.6(PKLR):c.1117-13C>T
|
rs145132664
|
0.00012
|
NM_000355.4(TCN2):c.*18C>T
|
rs371703966
|
0.00012
|
NM_000373.4(UMPS):c.*2159C>T
|
rs559652457
|
0.00012
|
NM_000373.4(UMPS):c.*3374C>G
|
rs143276999
|
0.00012
|
NM_000373.4(UMPS):c.953T>C (p.Ile318Thr)
|
rs375535366
|
0.00012
|
NM_001081.4(CUBN):c.1236T>C (p.Thr412=)
|
rs201404467
|
0.00012
|
NM_001081.4(CUBN):c.2738G>C (p.Ser913Thr)
|
rs201589187
|
0.00012
|
NM_001113378.2(FANCI):c.2646A>G (p.Leu882=)
|
rs199627578
|
0.00012
|
NM_001113378.2(FANCI):c.3473G>T (p.Cys1158Phe)
|
rs199502679
|
0.00012
|
NM_001113378.2(FANCI):c.3868A>G (p.Lys1290Glu)
|
rs374908061
|
0.00012
|
NM_001114636.1(FANCL):c.-35C>T
|
rs368688452
|
0.00012
|
NM_002454.3(MTRR):c.973C>A (p.Gln325Lys)
|
rs138098668
|
0.00012
|
NM_002693.3(POLG):c.*100G>A
|
rs770839560
|
0.00012
|
NM_002693.3(POLG):c.3644-16T>C
|
rs536522307
|
0.00012
|
NM_003126.4(SPTA1):c.4418C>T (p.Thr1473Met)
|
rs187916559
|
0.00012
|
NM_005142.3(CBLIF):c.*87G>A
|
rs575272147
|
0.00012
|
NM_005142.3(CBLIF):c.79+3G>A
|
rs146396839
|
0.00012
|
NM_005236.3(ERCC4):c.2186T>C (p.Ile729Thr)
|
rs375860375
|
0.00012
|
NM_006363.6(SEC23B):c.*494T>C
|
rs561479544
|
0.00012
|
NM_006363.6(SEC23B):c.2031G>A (p.Met677Ile)
|
rs202187007
|
0.00012
|
NM_015506.3(MMACHC):c.364C>A (p.His122Asn)
|
rs372918203
|
0.00012
|
NM_020937.4(FANCM):c.4933C>T (p.Arg1645Cys)
|
rs186197572
|
0.00012
|
NM_020937.4(FANCM):c.538A>G (p.Ile180Val)
|
rs151248588
|
0.00012
|
NM_020937.4(FANCM):c.5832G>T (p.Leu1944Phe)
|
rs201017015
|
0.00012
|
NM_020937.4(FANCM):c.934G>A (p.Ala312Thr)
|
rs189856413
|
0.00012
|
NM_021922.3(FANCE):c.926C>T (p.Pro309Leu)
|
rs151020666
|
0.00012
|
NM_022725.4(FANCF):c.*1630G>A
|
rs559054290
|
0.00012
|
NM_032043.3(BRIP1):c.*2656A>G
|
rs1052477488
|
0.00012
|
NM_032043.3(BRIP1):c.*4053T>C
|
rs191840743
|
0.00012
|
NM_032043.3(BRIP1):c.2564G>A (p.Arg855His)
|
rs200894063
|
0.00012
|
NM_032444.4(SLX4):c.2235C>T (p.Thr745=)
|
rs75184268
|
0.00012
|
NM_032444.4(SLX4):c.2620G>A (p.Gly874Ser)
|
rs113420526
|
0.00012
|
NM_032444.4(SLX4):c.398C>T (p.Pro133Leu)
|
rs373586019
|
0.00012
|
NM_032444.4(SLX4):c.4445G>A (p.Cys1482Tyr)
|
rs148856258
|
0.00012
|
NM_058216.3(RAD51C):c.200A>G (p.Glu67Gly)
|
rs375451955
|
0.00012
|
NM_080669.6(SLC46A1):c.*1076G>A
|
rs151184490
|
0.00012
|
NM_080669.6(SLC46A1):c.*2636C>A
|
rs782382359
|
0.00012
|
NM_138477.4(CDAN1):c.-8C>T
|
rs764807565
|
0.00012
|
NM_138477.4(CDAN1):c.1822C>T (p.Pro608Ser)
|
rs146810840
|
0.00012
|
NM_138477.4(CDAN1):c.2801G>A (p.Arg934Gln)
|
rs199753863
|
0.00012
|
NM_138477.4(CDAN1):c.3267C>T (p.Leu1089=)
|
rs778218831
|
0.00012
|
NM_206965.2(FTCD):c.593G>A (p.Arg198His)
|
rs142358848
|
0.00012
|
NM_206965.2(FTCD):c.677T>C (p.Leu226Pro)
|
rs149445900
|
0.00012
|
NM_000037.4(ANK1):c.3234C>T (p.Pro1078=)
|
rs755219802
|
0.00011
|
NM_000037.4(ANK1):c.3288G>A (p.Pro1096=)
|
rs140964621
|
0.00011
|
NM_000037.4(ANK1):c.3984+12C>T
|
rs200019819
|
0.00011
|
NM_000059.4(BRCA2):c.6317T>C (p.Leu2106Pro)
|
rs56172926
|
0.00011
|
NM_000096.4(CP):c.*572A>G
|
rs561191589
|
0.00011
|
NM_000096.4(CP):c.1895C>T (p.Pro632Leu)
|
rs200706325
|
0.00011
|
NM_000096.4(CP):c.2926G>A (p.Val976Met)
|
rs192063766
|
0.00011
|
NM_000096.4(CP):c.3006C>T (p.Ser1002=)
|
rs199877380
|
0.00011
|
NM_000096.4(CP):c.782-3C>T
|
rs375191868
|
0.00011
|
NM_000135.4(FANCA):c.1549C>T (p.Arg517Trp)
|
rs587778309
|
0.00011
|
NM_000135.4(FANCA):c.2029G>A (p.Val677Met)
|
rs767396631
|
0.00011
|
NM_000135.4(FANCA):c.2842G>C (p.Asp948His)
|
rs778254482
|
0.00011
|
NM_000135.4(FANCA):c.3099C>A (p.Asp1033Glu)
|
rs139289675
|
0.00011
|
NM_000135.4(FANCA):c.3157C>T (p.Arg1053Cys)
|
rs376103033
|
0.00011
|
NM_000136.3(FANCC):c.*984G>A
|
rs3780559
|
0.00011
|
NM_000136.3(FANCC):c.1509G>A (p.Thr503=)
|
rs144278080
|
0.00011
|
NM_000136.3(FANCC):c.522-4A>G
|
rs371422485
|
0.00011
|
NM_000136.3(FANCC):c.817G>A (p.Glu273Lys)
|
rs143181565
|
0.00011
|
NM_000186.4(CFH):c.2488C>T (p.Arg830Trp)
|
rs62641696
|
0.00011
|
NM_000186.4(CFH):c.476G>A (p.Ser159Asn)
|
rs370640334
|
0.00011
|
NM_000254.3(MTR):c.1594A>G (p.Asn532Asp)
|
rs140183705
|
0.00011
|
NM_000289.6(PFKM):c.*3C>T
|
rs367783282
|
0.00011
|
NM_000289.6(PFKM):c.1063-5C>T
|
rs758178966
|
0.00011
|
NM_000289.6(PFKM):c.1925A>G (p.Asn642Ser)
|
rs141550921
|
0.00011
|
NM_000289.6(PFKM):c.2121G>A (p.Ser707=)
|
rs370046842
|
0.00011
|
NM_000289.6(PFKM):c.638+15C>A
|
rs376150217
|
0.00011
|
NM_000298.6(PKLR):c.805G>T (p.Val269Phe)
|
rs200695047
|
0.00011
|
NM_000384.3(APOB):c.11466G>A (p.Val3822=)
|
rs755842633
|
0.00011
|
NM_001002010.5(NT5C3A):c.406A>G (p.Thr136Ala)
|
rs141651499
|
0.00011
|
NM_001018113.3(FANCB):c.*151A>G
|
rs1480015600
|
0.00011
|
NM_001018115.3(FANCD2):c.172A>G (p.Ile58Val)
|
rs766098612
|
0.00011
|
NM_001018115.3(FANCD2):c.2765A>G (p.His922Arg)
|
rs1039845680
|
0.00011
|
NM_001040436.3(YARS2):c.180G>A (p.Glu60=)
|
rs137922867
|
0.00011
|
NM_001040436.3(YARS2):c.819A>G (p.Leu273=)
|
rs149781186
|
0.00011
|
NM_001063.4(TF):c.215C>T (p.Ala72Val)
|
rs142819812
|
0.00011
|
NM_001081.4(CUBN):c.10729G>A (p.Ala3577Thr)
|
rs139051724
|
0.00011
|
NM_001081.4(CUBN):c.1926C>T (p.Asp642=)
|
rs201938886
|
0.00011
|
NM_001081.4(CUBN):c.6278G>C (p.Gly2093Ala)
|
rs748823977
|
0.00011
|
NM_001081.4(CUBN):c.6661G>A (p.Val2221Ile)
|
rs143291127
|
0.00011
|
NM_001081.4(CUBN):c.8021G>A (p.Arg2674His)
|
rs184746130
|
0.00011
|
NM_001081.4(CUBN):c.9267C>T (p.Thr3089=)
|
rs200124646
|
0.00011
|
NM_001113378.2(FANCI):c.1856T>A (p.Leu619Gln)
|
rs151038616
|
0.00011
|
NM_001113378.2(FANCI):c.288+3A>G
|
rs538283826
|
0.00011
|
NM_001114134.2(EPB42):c.1058C>T (p.Ala353Val)
|
rs555199291
|
0.00011
|
NM_001114134.2(EPB42):c.1636G>A (p.Gly546Ser)
|
rs369068948
|
0.00011
|
NM_001355436.2(SPTB):c.4105A>G (p.Lys1369Glu)
|
rs760803657
|
0.00011
|
NM_001386140.1(MTTP):c.368C>T (p.Thr123Met)
|
rs754693915
|
0.00011
|
NM_002454.3(MTRR):c.542A>G (p.Lys181Arg)
|
rs996966324
|
0.00011
|
NM_002485.5(NBN):c.1036G>A (p.Val346Met)
|
rs200297914
|
0.00011
|
NM_002485.5(NBN):c.505C>T (p.Arg169Cys)
|
rs182756889
|
0.00011
|
NM_003126.4(SPTA1):c.4936C>T (p.Leu1646Phe)
|
rs772331386
|
0.00011
|
NM_005142.3(CBLIF):c.256+10C>T
|
rs369960390
|
0.00011
|
NM_005236.3(ERCC4):c.1268A>G (p.Tyr423Cys)
|
rs143924094
|
0.00011
|
NM_006947.4(SRP72):c.622C>T (p.Arg208Cys)
|
rs375436807
|
0.00011
|
NM_006947.4(SRP72):c.623G>A (p.Arg208His)
|
rs369761160
|
0.00011
|
NM_017875.4(SLC25A38):c.*404G>A
|
rs886058473
|
0.00011
|
NM_017875.4(SLC25A38):c.-227G>A
|
rs886058468
|
0.00011
|
NM_017875.4(SLC25A38):c.199C>T (p.Arg67Cys)
|
rs200791957
|
0.00011
|
NM_017875.4(SLC25A38):c.486C>T (p.Tyr162=)
|
rs531290475
|
0.00011
|
NM_018062.4(FANCL):c.1088G>A (p.Ser363Asn)
|
rs544425912
|
0.00011
|
NM_018062.4(FANCL):c.706A>G (p.Ile236Val)
|
rs762904548
|
0.00011
|
NM_020937.4(FANCM):c.53G>A (p.Arg18Gln)
|
rs146609069
|
0.00011
|
NM_020937.4(FANCM):c.6096A>G (p.Ile2032Met)
|
rs139343255
|
0.00011
|
NM_022725.4(FANCF):c.*1420A>G
|
rs414664
|
0.00011
|
NM_025215.6(PUS1):c.1266G>A (p.Gly422=)
|
rs201441662
|
0.00011
|
NM_032043.3(BRIP1):c.3444C>A (p.Asp1148Glu)
|
rs28997573
|
0.00011
|
NM_032444.4(SLX4):c.2053G>A (p.Val685Ile)
|
rs371002922
|
0.00011
|
NM_032444.4(SLX4):c.2335G>A (p.Val779Met)
|
rs768126392
|
0.00011
|
NM_032444.4(SLX4):c.2437G>A (p.Glu813Lys)
|
rs770020510
|
0.00011
|
NM_032444.4(SLX4):c.4903A>G (p.Lys1635Glu)
|
rs140417509
|
0.00011
|
NM_032444.4(SLX4):c.833G>A (p.Arg278Gln)
|
rs201192909
|
0.00011
|
NM_080669.6(SLC46A1):c.*1094A>G
|
rs782533706
|
0.00011
|
NM_080669.6(SLC46A1):c.*1249G>A
|
rs781824816
|
0.00011
|
NM_080669.6(SLC46A1):c.*2868G>A
|
rs1028128966
|
0.00011
|
NM_080669.6(SLC46A1):c.*4804T>A
|
rs781937251
|
0.00011
|
NM_138477.4(CDAN1):c.2947+9C>A
|
rs372998688
|
0.00011
|
NM_138477.4(CDAN1):c.29G>A (p.Arg10Gln)
|
rs910234195
|
0.00011
|
NM_182916.3(TRNT1):c.259A>G (p.Thr87Ala)
|
rs140935012
|
0.00011
|
NM_182916.3(TRNT1):c.500T>C (p.Phe167Ser)
|
rs145784140
|
0.00011
|
NM_182916.3(TRNT1):c.667A>G (p.Ile223Val)
|
rs376974085
|
0.00011
|
NM_206965.2(FTCD):c.1352C>T (p.Pro451Leu)
|
rs376845160
|
0.00011
|
NM_000032.5(ALAS2):c.661G>A (p.Ala221Thr)
|
rs753156183
|
0.00010
|
NM_000037.4(ANK1):c.2389-10C>T
|
rs764935260
|
0.00010
|
NM_000059.4(BRCA2):c.5414A>G (p.Asn1805Ser)
|
rs80358765
|
0.00010
|
NM_000096.4(CP):c.1357A>G (p.Ile453Val)
|
rs145762017
|
0.00010
|
NM_000096.4(CP):c.1927G>A (p.Val643Met)
|
rs143775161
|
0.00010
|
NM_000096.4(CP):c.929G>A (p.Arg310His)
|
rs202217551
|
0.00010
|
NM_000135.4(FANCA):c.1281G>C (p.Met427Ile)
|
rs747322973
|
0.00010
|
NM_000135.4(FANCA):c.2089G>A (p.Val697Ile)
|
rs376888740
|
0.00010
|
NM_000136.3(FANCC):c.*1332A>G
|
rs191983554
|
0.00010
|
NM_000136.3(FANCC):c.1249G>A (p.Glu417Lys)
|
rs140687953
|
0.00010
|
NM_000136.3(FANCC):c.1259C>T (p.Thr420Met)
|
rs779261511
|
0.00010
|
NM_000136.3(FANCC):c.896+6C>T
|
rs199525333
|
0.00010
|
NM_000186.4(CFH):c.2461C>T (p.His821Tyr)
|
rs367687415
|
0.00010
|
NM_000186.4(CFH):c.332T>A (p.Val111Glu)
|
rs576819823
|
0.00010
|
NM_000254.3(MTR):c.68A>G (p.Asn23Ser)
|
rs760845484
|
0.00010
|
NM_000289.6(PFKM):c.-17G>C
|
rs952485517
|
0.00010
|
NM_000298.6(PKLR):c.121C>T (p.Arg41Trp)
|
rs375189218
|
0.00010
|
NM_000298.6(PKLR):c.1365C>T (p.Thr455=)
|
rs146708702
|
0.00010
|
NM_000355.4(TCN2):c.164A>G (p.Tyr55Cys)
|
rs201701227
|
0.00010
|
NM_000355.4(TCN2):c.921A>C (p.Pro307=)
|
rs138738105
|
0.00010
|
NM_000365.6(TPI1):c.-11G>A
|
rs199634350
|
0.00010
|
NM_000373.4(UMPS):c.*4178A>G
|
rs758463509
|
0.00010
|
NM_000373.4(UMPS):c.*4215C>T
|
rs780219461
|
0.00010
|
NM_000373.4(UMPS):c.1157C>T (p.Ala386Val)
|
rs202158549
|
0.00010
|
NM_000398.7(CYB5R3):c.575G>A (p.Arg192His)
|
rs200581263
|
0.00010
|
NM_000617.3(SLC11A2):c.-50G>A
|
rs886049570
|
0.00010
|
NM_001018115.3(FANCD2):c.2826G>A (p.Thr942=)
|
rs200118565
|
0.00010
|
NM_001040436.3(YARS2):c.*142T>C
|
rs190589666
|
0.00010
|
NM_001063.4(TF):c.1044C>T (p.Gly348=)
|
rs139468631
|
0.00010
|
NM_001081.4(CUBN):c.*786T>C
|
rs886046853
|
0.00010
|
NM_001081.4(CUBN):c.10641G>A (p.Arg3547=)
|
rs145909413
|
0.00010
|
NM_001081.4(CUBN):c.2177G>A (p.Gly726Glu)
|
rs767277942
|
0.00010
|
NM_001081.4(CUBN):c.323G>A (p.Ser108Asn)
|
rs543983858
|
0.00010
|
NM_001081.4(CUBN):c.3746G>A (p.Arg1249His)
|
rs151039810
|
0.00010
|
NM_001081.4(CUBN):c.5323C>T (p.Arg1775Trp)
|
rs1276708
|
0.00010
|
NM_001081.4(CUBN):c.6268A>G (p.Lys2090Glu)
|
rs201374966
|
0.00010
|
NM_001113378.2(FANCI):c.1810A>G (p.Met604Val)
|
rs141879625
|
0.00010
|
NM_001113378.2(FANCI):c.2890-13C>T
|
rs377269890
|
0.00010
|
NM_001113378.2(FANCI):c.712A>G (p.Ser238Gly)
|
rs112932178
|
0.00010
|
NM_001376013.1(EPB41):c.1187A>G (p.Tyr396Cys)
|
rs201227668
|
0.00010
|
NM_003126.4(SPTA1):c.1672G>A (p.Asp558Asn)
|
rs200529208
|
0.00010
|
NM_003126.4(SPTA1):c.2672G>A (p.Arg891Gln)
|
rs36057043
|
0.00010
|
NM_003126.4(SPTA1):c.3940T>C (p.Ser1314Pro)
|
rs200308788
|
0.00010
|
NM_004629.2(FANCG):c.*250C>T
|
rs535188841
|
0.00010
|
NM_004629.2(FANCG):c.1454G>A (p.Arg485Gln)
|
rs77152961
|
0.00010
|
NM_004629.2(FANCG):c.722C>T (p.Pro241Leu)
|
rs201438531
|
0.00010
|
NM_005142.3(CBLIF):c.1107C>T (p.Val369=)
|
rs537424617
|
0.00010
|
NM_005334.3(HCFC1):c.3356C>T (p.Thr1119Ile)
|
rs782727601
|
0.00010
|
NM_005431.2(XRCC2):c.229G>C (p.Glu77Gln)
|
rs142527605
|
0.00010
|
NM_006563.5(KLF1):c.*311A>G
|
rs767532783
|
0.00010
|
NM_006996.3(SLC19A2):c.*1928T>C
|
rs776987873
|
0.00010
|
NM_015506.3(MMACHC):c.641G>A (p.Arg214His)
|
rs202189863
|
0.00010
|
NM_018062.4(FANCL):c.246C>G (p.Ser82Arg)
|
rs374675609
|
0.00010
|
NM_018062.4(FANCL):c.649G>C (p.Glu217Gln)
|
rs142110072
|
0.00010
|
NM_018368.4(LMBRD1):c.*384A>C
|
rs536469891
|
0.00010
|
NM_018368.4(LMBRD1):c.688G>A (p.Ala230Thr)
|
rs376081191
|
0.00010
|
NM_020937.4(FANCM):c.1849C>G (p.Gln617Glu)
|
rs138201476
|
0.00010
|
NM_021922.3(FANCE):c.559G>A (p.Glu187Lys)
|
rs142746353
|
0.00010
|
NM_021922.3(FANCE):c.59C>T (p.Ala20Val)
|
rs927154227
|
0.00010
|
NM_022725.4(FANCF):c.1087C>T (p.Gln363Ter)
|
rs201285915
|
0.00010
|
NM_022725.4(FANCF):c.350C>T (p.Pro117Leu)
|
rs374572943
|
0.00010
|
NM_024675.4(PALB2):c.11C>T (p.Pro4Leu)
|
rs45619737
|
0.00010
|
NM_032444.4(SLX4):c.*168T>G
|
rs886051975
|
0.00010
|
NM_032444.4(SLX4):c.1911G>T (p.Ser637=)
|
rs200013924
|
0.00010
|
NM_032444.4(SLX4):c.4333C>T (p.Arg1445Trp)
|
rs777967898
|
0.00010
|
NM_032444.4(SLX4):c.73G>A (p.Gly25Arg)
|
rs201533738
|
0.00010
|
NM_058216.3(RAD51C):c.431T>C (p.Ile144Thr)
|
rs28363307
|
0.00010
|
NM_080669.6(SLC46A1):c.*3959C>G
|
rs886052738
|
0.00010
|
NM_080669.6(SLC46A1):c.-67G>T
|
rs782796764
|
0.00010
|
NM_138477.4(CDAN1):c.2007+10C>T
|
rs372645598
|
0.00010
|
NM_138477.4(CDAN1):c.2197A>C (p.Ser733Arg)
|
rs150491625
|
0.00010
|
NM_138477.4(CDAN1):c.2541+14G>A
|
rs199780617
|
0.00010
|
NM_138477.4(CDAN1):c.3169C>T (p.Leu1057=)
|
rs61746359
|
0.00010
|
NM_206965.2(FTCD):c.1291del (p.Glu431fs)
|
rs775788856
|
0.00010
|
NM_206965.2(FTCD):c.476C>T (p.Ala159Val)
|
rs200652518
|
0.00010
|
NM_000037.4(ANK1):c.1926C>T (p.Ala642=)
|
rs534680895
|
0.00009
|
NM_000037.4(ANK1):c.3652C>T (p.Arg1218Trp)
|
rs142542271
|
0.00009
|
NM_000037.4(ANK1):c.4136C>T (p.Pro1379Leu)
|
rs748160803
|
0.00009
|
NM_000059.4(BRCA2):c.5455C>T (p.Pro1819Ser)
|
rs80358768
|
0.00009
|
NM_000059.4(BRCA2):c.7865A>G (p.Asn2622Ser)
|
rs142899125
|
0.00009
|
NM_000059.4(BRCA2):c.8215G>A (p.Val2739Ile)
|
rs80359069
|
0.00009
|
NM_000096.4(CP):c.2260G>A (p.Glu754Lys)
|
rs377373314
|
0.00009
|
NM_000096.4(CP):c.3021C>G (p.His1007Gln)
|
rs775322417
|
0.00009
|
NM_000135.4(FANCA):c.1371G>T (p.Gly457=)
|
rs369988875
|
0.00009
|
NM_000135.4(FANCA):c.1771C>G (p.Arg591Gly)
|
rs753980264
|
0.00009
|
NM_000135.4(FANCA):c.189+12C>G
|
rs753101174
|
0.00009
|
NM_000135.4(FANCA):c.2276C>T (p.Pro759Leu)
|
rs373147908
|
0.00009
|
NM_000135.4(FANCA):c.2309G>A (p.Arg770His)
|
rs145552439
|
0.00009
|
NM_000135.4(FANCA):c.2662G>A (p.Val888Ile)
|
rs774863156
|
0.00009
|
NM_000135.4(FANCA):c.3138C>T (p.His1046=)
|
rs150884376
|
0.00009
|
NM_000135.4(FANCA):c.3999C>T (p.Phe1333=)
|
rs774576283
|
0.00009
|
NM_000135.4(FANCA):c.4177G>A (p.Val1393Met)
|
rs199652831
|
0.00009
|
NM_000135.4(FANCA):c.4225C>T (p.Arg1409Trp)
|
rs139478274
|
0.00009
|
NM_000136.3(FANCC):c.*267G>A
|
rs769817519
|
0.00009
|
NM_000136.3(FANCC):c.1073-5C>T
|
rs375613884
|
0.00009
|
NM_000136.3(FANCC):c.1589T>C (p.Leu530Ser)
|
rs766809608
|
0.00009
|
NM_000136.3(FANCC):c.554G>A (p.Arg185Gln)
|
rs370346767
|
0.00009
|
NM_000136.3(FANCC):c.745A>G (p.Ser249Gly)
|
rs539583288
|
0.00009
|
NM_000254.3(MTR):c.355A>G (p.Met119Val)
|
rs538707626
|
0.00009
|
NM_000342.4(SLC4A1):c.*1409T>C
|
rs891382961
|
0.00009
|
NM_000342.4(SLC4A1):c.1759A>T (p.Met587Leu)
|
rs201228206
|
0.00009
|
NM_000342.4(SLC4A1):c.2057C>T (p.Thr686Met)
|
rs143131877
|
0.00009
|
NM_000355.4(TCN2):c.*520T>C
|
rs953408654
|
0.00009
|
NM_000355.4(TCN2):c.184A>G (p.Ser62Gly)
|
rs145474456
|
0.00009
|
NM_000355.4(TCN2):c.883G>A (p.Val295Ile)
|
rs770684965
|
0.00009
|
NM_000373.4(UMPS):c.*1192C>T
|
rs771857226
|
0.00009
|
NM_000384.3(APOB):c.11911G>A (p.Glu3971Lys)
|
rs373477107
|
0.00009
|
NM_000617.3(SLC11A2):c.-39G>A
|
rs751410203
|
0.00009
|
NM_000619.3(IFNG):c.285C>T (p.Thr95=)
|
rs142375196
|
0.00009
|
NM_001018113.3(FANCB):c.-111A>G
|
rs185118376
|
0.00009
|
NM_001018115.3(FANCD2):c.2348G>A (p.Cys783Tyr)
|
rs763986919
|
0.00009
|
NM_001018115.3(FANCD2):c.28T>C (p.Ser10Pro)
|
rs150075366
|
0.00009
|
NM_001018115.3(FANCD2):c.864C>T (p.Ser288=)
|
rs780547790
|
0.00009
|
NM_001029.5(RPS26):c.312G>A (p.Ala104=)
|
rs145976784
|
0.00009
|
NM_001040436.3(YARS2):c.*627A>T
|
rs886049303
|
0.00009
|
NM_001040436.3(YARS2):c.202G>A (p.Gly68Ser)
|
rs150304121
|
0.00009
|
NM_001063.3(TF):c.-117G>A
|
rs540606355
|
0.00009
|
NM_001063.4(TF):c.585G>A (p.Gly195=)
|
rs376851470
|
0.00009
|
NM_001081.4(CUBN):c.10351G>A (p.Asp3451Asn)
|
rs145661638
|
0.00009
|
NM_001081.4(CUBN):c.10736C>T (p.Ser3579Phe)
|
rs754645310
|
0.00009
|
NM_001081.4(CUBN):c.1111+5T>C
|
rs199662739
|
0.00009
|
NM_001081.4(CUBN):c.2483G>A (p.Arg828His)
|
rs199527884
|
0.00009
|
NM_001081.4(CUBN):c.2894A>G (p.Gln965Arg)
|
rs147955566
|
0.00009
|
NM_001081.4(CUBN):c.536G>T (p.Gly179Val)
|
rs370373276
|
0.00009
|
NM_001081.4(CUBN):c.5862G>A (p.Lys1954=)
|
rs181991723
|
0.00009
|
NM_001081.4(CUBN):c.614C>T (p.Thr205Met)
|
rs374652141
|
0.00009
|
NM_001081.4(CUBN):c.7646C>T (p.Thr2549Met)
|
rs537292240
|
0.00009
|
NM_001081.4(CUBN):c.8825A>G (p.Asn2942Ser)
|
rs766855509
|
0.00009
|
NM_001081.4(CUBN):c.9053A>C (p.Tyr3018Ser)
|
rs370778353
|
0.00009
|
NM_001081.4(CUBN):c.9139A>G (p.Ile3047Val)
|
rs376118603
|
0.00009
|
NM_001083116.3(PRF1):c.529C>T (p.Arg177Cys)
|
rs201468340
|
0.00009
|
NM_001113378.2(FANCI):c.1900T>A (p.Phe634Ile)
|
rs140965103
|
0.00009
|
NM_001113378.2(FANCI):c.2071G>A (p.Glu691Lys)
|
rs144419129
|
0.00009
|
NM_001113378.2(FANCI):c.3466G>C (p.Gly1156Arg)
|
rs200026076
|
0.00009
|
NM_001113378.2(FANCI):c.3706G>A (p.Val1236Ile)
|
rs377165815
|
0.00009
|
NM_001114134.2(EPB42):c.859C>T (p.Arg287Cys)
|
rs515726212
|
0.00009
|
NM_001142864.4(PIEZO1):c.5790C>G (p.Phe1930Leu)
|
rs750027720
|
0.00009
|
NM_001243177.4(ALDOA):c.*101G>A
|
rs539833998
|
0.00009
|
NM_001243177.4(ALDOA):c.*72T>G
|
rs886051895
|
0.00009
|
NM_001360016.2(G6PD):c.244A>C (p.Lys82Gln)
|
rs782065240
|
0.00009
|
NM_001374504.1(TMPRSS6):c.287G>A (p.Arg96His)
|
rs768158521
|
0.00009
|
NM_001374504.1(TMPRSS6):c.882G>A (p.Ala294=)
|
rs370192027
|
0.00009
|
NM_001386140.1(MTTP):c.130C>G (p.Leu44Val)
|
rs779068565
|
0.00009
|
NM_002454.3(MTRR):c.1677-2dup
|
rs747255318
|
0.00009
|
NM_002693.3(POLG):c.*122G>A
|
rs886051517
|
0.00009
|
NM_002693.3(POLG):c.*44G>C
|
rs563185483
|
0.00009
|
NM_003126.4(SPTA1):c.3697G>A (p.Val1233Ile)
|
rs369125471
|
0.00009
|
NM_003126.4(SPTA1):c.4347G>T (p.Lys1449Asn)
|
rs375506528
|
0.00009
|
NM_003126.4(SPTA1):c.5808G>A (p.Lys1936=)
|
rs766829938
|
0.00009
|
NM_003126.4(SPTA1):c.6601-10G>A
|
rs753769799
|
0.00009
|
NM_004629.2(FANCG):c.373_375dup (p.Val125dup)
|
rs750843326
|
0.00009
|
NM_005050.4(ABCD4):c.5C>T (p.Ala2Val)
|
rs368445200
|
0.00009
|
NM_005050.4(ABCD4):c.956A>G (p.Tyr319Cys)
|
rs201777056
|
0.00009
|
NM_005142.3(CBLIF):c.1074-3T>C
|
rs370833765
|
0.00009
|
NM_005236.3(ERCC4):c.1201C>T (p.Leu401Phe)
|
rs147458778
|
0.00009
|
NM_005236.3(ERCC4):c.1619C>T (p.Ser540Leu)
|
rs368830992
|
0.00009
|
NM_005236.3(ERCC4):c.1676G>A (p.Gly559Asp)
|
rs370896187
|
0.00009
|
NM_005236.3(ERCC4):c.2290A>G (p.Ser764Gly)
|
rs146764714
|
0.00009
|
NM_005236.3(ERCC4):c.703G>A (p.Ala235Thr)
|
rs141101671
|
0.00009
|
NM_005373.3(MPL):c.313T>C (p.Phe105Leu)
|
rs145313814
|
0.00009
|
NM_006947.4(SRP72):c.*839T>C
|
rs757066668
|
0.00009
|
NM_006996.3(SLC19A2):c.1486A>G (p.Thr496Ala)
|
rs769397647
|
0.00009
|
NM_015506.3(MMACHC):c.650A>T (p.Glu217Val)
|
rs199641732
|
0.00009
|
NM_015702.3(MMADHC):c.-16A>G
|
rs144111552
|
0.00009
|
NM_015937.6(PIGT):c.634C>T (p.His212Tyr)
|
rs574183358
|
0.00009
|
NM_018062.4(FANCL):c.-3G>C
|
rs766104531
|
0.00009
|
NM_018368.4(LMBRD1):c.*26A>G
|
rs758279877
|
0.00009
|
NM_020937.4(FANCM):c.3616C>G (p.Gln1206Glu)
|
rs377167890
|
0.00009
|
NM_020937.4(FANCM):c.3829A>G (p.Asn1277Asp)
|
rs946862124
|
0.00009
|
NM_020937.4(FANCM):c.4523C>G (p.Ala1508Gly)
|
rs561723791
|
0.00009
|
NM_020937.4(FANCM):c.4986G>T (p.Lys1662Asn)
|
rs151273573
|
0.00009
|
NM_020937.4(FANCM):c.547A>C (p.Ser183Arg)
|
rs368937236
|
0.00009
|
NM_020937.4(FANCM):c.775A>G (p.Ile259Val)
|
rs150256536
|
0.00009
|
NM_020937.4(FANCM):c.869T>C (p.Ile290Thr)
|
rs377303950
|
0.00009
|
NM_021922.3(FANCE):c.1317-11C>T
|
rs147572271
|
0.00009
|
NM_021922.3(FANCE):c.1588G>A (p.Ala530Thr)
|
rs377415237
|
0.00009
|
NM_021922.3(FANCE):c.52C>T (p.Pro18Ser)
|
rs552241929
|
0.00009
|
NM_022725.4(FANCF):c.*1512A>G
|
rs571200561
|
0.00009
|
NM_022725.4(FANCF):c.860A>G (p.Tyr287Cys)
|
rs750623273
|
0.00009
|
NM_022725.4(FANCF):c.911G>C (p.Trp304Ser)
|
rs372140217
|
0.00009
|
NM_024675.4(PALB2):c.12T>C (p.Pro4=)
|
rs567706422
|
0.00009
|
NM_024675.4(PALB2):c.2379C>T (p.Gly793=)
|
rs377626805
|
0.00009
|
NM_024675.4(PALB2):c.3251C>T (p.Ser1084Leu)
|
rs62625271
|
0.00009
|
NM_025215.6(PUS1):c.1166A>G (p.Gln389Arg)
|
rs753674809
|
0.00009
|
NM_025215.6(PUS1):c.207C>G (p.Leu69=)
|
rs140067992
|
0.00009
|
NM_025215.6(PUS1):c.904G>A (p.Val302Met)
|
rs148057665
|
0.00009
|
NM_030943.4(AMN):c.1123G>C (p.Val375Leu)
|
rs759831593
|
0.00009
|
NM_032043.3(BRIP1):c.*1792G>A
|
rs746869920
|
0.00009
|
NM_032043.3(BRIP1):c.1721C>T (p.Pro574Leu)
|
rs377302300
|
0.00009
|
NM_032043.3(BRIP1):c.316C>T (p.Arg106Cys)
|
rs587780247
|
0.00009
|
NM_032043.3(BRIP1):c.93+15G>A
|
rs113052745
|
0.00009
|
NM_032444.4(SLX4):c.*887C>T
|
rs557729822
|
0.00009
|
NM_032444.4(SLX4):c.1223G>A (p.Arg408Gln)
|
rs377135500
|
0.00009
|
NM_032444.4(SLX4):c.2006G>A (p.Arg669His)
|
rs200807331
|
0.00009
|
NM_032444.4(SLX4):c.3911T>G (p.Val1304Gly)
|
rs146837290
|
0.00009
|
NM_032444.4(SLX4):c.4409C>T (p.Pro1470Leu)
|
rs72778139
|
0.00009
|
NM_058216.3(RAD51C):c.506T>C (p.Val169Ala)
|
rs587780256
|
0.00009
|
NM_080669.6(SLC46A1):c.*4323C>G
|
rs561043242
|
0.00009
|
NM_138477.4(CDAN1):c.1766A>G (p.Asp589Gly)
|
rs148074362
|
0.00009
|
NM_198253.3(TERT):c.1974G>A (p.Val658=)
|
rs778496417
|
0.00009
|
NM_198253.3(TERT):c.2001C>T (p.Tyr667=)
|
rs758494245
|
0.00009
|
NM_198253.3(TERT):c.3268G>A (p.Val1090Met)
|
rs121918664
|
0.00009
|
NM_198253.3(TERT):c.779G>A (p.Gly260Asp)
|
rs148798048
|
0.00009
|
NM_206965.2(FTCD):c.857G>A (p.Cys286Tyr)
|
rs372299678
|
0.00009
|
NM_000037.4(ANK1):c.*1603C>G
|
rs746821020
|
0.00008
|
NM_000037.4(ANK1):c.*31C>T
|
rs371773460
|
0.00008
|
NM_000037.4(ANK1):c.1859G>A (p.Ser620Asn)
|
rs750068521
|
0.00008
|
NM_000059.4(BRCA2):c.506A>G (p.Lys169Arg)
|
rs80358730
|
0.00008
|
NM_000059.4(BRCA2):c.517-4C>G
|
rs81002804
|
0.00008
|
NM_000135.4(FANCA):c.2072A>G (p.Asn691Ser)
|
rs367880372
|
0.00008
|
NM_000135.4(FANCA):c.2856G>C (p.Gln952His)
|
rs200093209
|
0.00008
|
NM_000135.4(FANCA):c.3069G>T (p.Glu1023Asp)
|
rs373986283
|
0.00008
|
NM_000135.4(FANCA):c.3644C>A (p.Ala1215Asp)
|
rs199601218
|
0.00008
|
NM_000135.4(FANCA):c.679C>G (p.His227Asp)
|
rs142580507
|
0.00008
|
NM_000135.4(FANCA):c.869C>A (p.Ser290Tyr)
|
rs185984960
|
0.00008
|
NM_000289.6(PFKM):c.1992+5G>A
|
rs180864041
|
0.00008
|
NM_000355.4(TCN2):c.353T>C (p.Phe118Ser)
|
rs199728304
|
0.00008
|
NM_000355.4(TCN2):c.424A>G (p.Ile142Val)
|
rs200771616
|
0.00008
|
NM_000355.4(TCN2):c.521G>A (p.Ser174Asn)
|
rs375193056
|
0.00008
|
NM_000355.4(TCN2):c.855T>A (p.Asn285Lys)
|
rs376839271
|
0.00008
|
NM_000373.4(UMPS):c.*4119T>C
|
rs747201281
|
0.00008
|
NM_000384.3(APOB):c.2160C>T (p.Tyr720=)
|
rs756184175
|
0.00008
|
NM_000384.3(APOB):c.4929G>A (p.Ala1643=)
|
rs200623857
|
0.00008
|
NM_000384.3(APOB):c.6656G>A (p.Arg2219His)
|
rs200106845
|
0.00008
|
NM_000402.4(G6PD):c.770G>A (p.Arg257Gln)
|
rs137852328
|
0.00008
|
NM_000617.3(SLC11A2):c.*1739C>T
|
rs766628921
|
0.00008
|
NM_000637.5(GSR):c.878C>G (p.Ser293Cys)
|
rs762024253
|
0.00008
|
NM_000969.5(RPL5):c.418G>A (p.Gly140Ser)
|
rs121434406
|
0.00008
|
NM_001014.5(RPS10):c.261G>A (p.Pro87=)
|
rs781484971
|
0.00008
|
NM_001018113.3(FANCB):c.-230A>T
|
rs1020271259
|
0.00008
|
NM_001018113.3(FANCB):c.833A>G (p.Gln278Arg)
|
rs150435015
|
0.00008
|
NM_001018115.3(FANCD2):c.2480A>C (p.Glu827Ala)
|
rs145099733
|
0.00008
|
NM_001018115.3(FANCD2):c.4281+37G>A
|
rs376442380
|
0.00008
|
NM_001018115.3(FANCD2):c.672C>T (p.His224=)
|
rs371928644
|
0.00008
|
NM_001063.4(TF):c.*361T>C
|
rs952581393
|
0.00008
|
NM_001063.4(TF):c.-18C>T
|
rs781336514
|
0.00008
|
NM_001081.4(CUBN):c.10576G>A (p.Gly3526Ser)
|
rs200330356
|
0.00008
|
NM_001081.4(CUBN):c.10838G>A (p.Arg3613His)
|
rs148626202
|
0.00008
|
NM_001081.4(CUBN):c.1234A>G (p.Thr412Ala)
|
rs748933632
|
0.00008
|
NM_001081.4(CUBN):c.2446+11A>G
|
rs372125740
|
0.00008
|
NM_001081.4(CUBN):c.3824G>A (p.Arg1275Gln)
|
rs755862991
|
0.00008
|
NM_001081.4(CUBN):c.4216G>A (p.Gly1406Arg)
|
rs771763775
|
0.00008
|
NM_001081.4(CUBN):c.5073C>G (p.Pro1691=)
|
rs200977290
|
0.00008
|
NM_001081.4(CUBN):c.6320A>C (p.Lys2107Thr)
|
rs368864485
|
0.00008
|
NM_001081.4(CUBN):c.6613G>A (p.Gly2205Arg)
|
rs140883483
|
0.00008
|
NM_001081.4(CUBN):c.7455G>A (p.Pro2485=)
|
rs144942741
|
0.00008
|
NM_001081.4(CUBN):c.9524C>A (p.Ser3175Ter)
|
rs368697251
|
0.00008
|
NM_001113378.2(FANCI):c.850G>A (p.Glu284Lys)
|
rs368711186
|
0.00008
|
NM_001114134.2(EPB42):c.1124C>T (p.Thr375Met)
|
rs115972761
|
0.00008
|
NM_001243177.4(ALDOA):c.275-5C>T
|
rs752764982
|
0.00008
|
NM_001360016.2(G6PD):c.1287+3G>C
|
rs782786750
|
0.00008
|
NM_001374504.1(TMPRSS6):c.*212T>A
|
rs781781005
|
0.00008
|
NM_001386140.1(MTTP):c.803T>C (p.Met268Thr)
|
rs146513720
|
0.00008
|
NM_002454.3(MTRR):c.1676+3A>G
|
rs369853875
|
0.00008
|
NM_002485.5(NBN):c.671G>A (p.Gly224Glu)
|
rs199845467
|
0.00008
|
NM_003126.4(SPTA1):c.*341T>G
|
rs867313542
|
0.00008
|
NM_003126.4(SPTA1):c.2875C>T (p.Arg959Trp)
|
rs567687301
|
0.00008
|
NM_003126.4(SPTA1):c.6889C>T (p.Arg2297Trp)
|
rs375016862
|
0.00008
|
NM_005142.3(CBLIF):c.1190A>T (p.Glu397Val)
|
rs150005713
|
0.00008
|
NM_005334.3(HCFC1):c.3495G>C (p.Gln1165His)
|
rs373327413
|
0.00008
|
NM_006363.6(SEC23B):c.389T>C (p.Ile130Thr)
|
rs773290230
|
0.00008
|
NM_006516.4(SLC2A1):c.1395C>T (p.Ser465=)
|
rs75852730
|
0.00008
|
NM_006947.4(SRP72):c.*1483A>G
|
rs566533583
|
0.00008
|
NM_007294.4(BRCA1):c.3649T>C (p.Ser1217Pro)
|
rs273900712
|
0.00008
|
NM_018062.4(FANCL):c.238C>G (p.Leu80Val)
|
rs563513081
|
0.00008
|
NM_018368.4(LMBRD1):c.802G>A (p.Ala268Thr)
|
rs143758103
|
0.00008
|
NM_020937.4(FANCM):c.1309+5G>T
|
rs370363591
|
0.00008
|
NM_020937.4(FANCM):c.4352A>G (p.His1451Arg)
|
rs572890751
|
0.00008
|
NM_020937.4(FANCM):c.4367G>A (p.Arg1456His)
|
rs749332566
|
0.00008
|
NM_020937.4(FANCM):c.5177C>T (p.Pro1726Leu)
|
rs750384175
|
0.00008
|
NM_021922.3(FANCE):c.1424A>G (p.Lys475Arg)
|
rs200083899
|
0.00008
|
NM_022725.4(FANCF):c.*336C>A
|
rs750128615
|
0.00008
|
NM_022725.4(FANCF):c.970A>G (p.Lys324Glu)
|
rs200416138
|
0.00008
|
NM_024675.4(PALB2):c.2128A>G (p.Thr710Ala)
|
rs730881887
|
0.00008
|
NM_024675.4(PALB2):c.2201C>A (p.Thr734Asn)
|
rs878855107
|
0.00008
|
NM_024675.4(PALB2):c.2509G>A (p.Glu837Lys)
|
rs587778587
|
0.00008
|
NM_024675.4(PALB2):c.949A>C (p.Thr317Pro)
|
rs587780223
|
0.00008
|
NM_032444.4(SLX4):c.1115G>A (p.Arg372Gln)
|
rs372956623
|
0.00008
|
NM_032444.4(SLX4):c.4403G>A (p.Arg1468His)
|
rs574214196
|
0.00008
|
NM_032444.4(SLX4):c.4682C>T (p.Thr1561Met)
|
rs543847606
|
0.00008
|
NM_032444.4(SLX4):c.630A>G (p.Leu210=)
|
rs746155183
|
0.00008
|
NM_080669.6(SLC46A1):c.*3985A>T
|
rs1031838882
|
0.00008
|
NM_080669.6(SLC46A1):c.85G>A (p.Val29Ile)
|
rs41297067
|
0.00008
|
NM_182916.3(TRNT1):c.982A>G (p.Lys328Glu)
|
rs747469885
|
0.00008
|
NM_198253.3(TERT):c.2127C>G (p.Val709=)
|
rs765264494
|
0.00008
|
NM_206965.2(FTCD):c.1307G>A (p.Arg436His)
|
rs373471933
|
0.00008
|
NM_000037.4(ANK1):c.*372T>C
|
rs1042068456
|
0.00007
|
NM_000037.4(ANK1):c.1535G>A (p.Arg512His)
|
rs371259018
|
0.00007
|
NM_000037.4(ANK1):c.5208T>A (p.Ser1736Arg)
|
rs750580242
|
0.00007
|
NM_000059.4(BRCA2):c.6877T>C (p.Phe2293Leu)
|
rs80358912
|
0.00007
|
NM_000096.4(CP):c.1265A>G (p.Lys422Arg)
|
rs200156117
|
0.00007
|
NM_000096.4(CP):c.2900G>C (p.Gly967Ala)
|
rs370673560
|
0.00007
|
NM_000096.4(CP):c.2998G>A (p.Gly1000Ser)
|
rs187293972
|
0.00007
|
NM_000135.4(FANCA):c.1006+4G>C
|
rs201771215
|
0.00007
|
NM_000135.4(FANCA):c.1225+14C>T
|
rs376558078
|
0.00007
|
NM_000135.4(FANCA):c.1573A>G (p.Ile525Val)
|
rs755925068
|
0.00007
|
NM_000135.4(FANCA):c.1634G>T (p.Ser545Ile)
|
rs200922390
|
0.00007
|
NM_000135.4(FANCA):c.2222+7G>A
|
rs374312736
|
0.00007
|
NM_000135.4(FANCA):c.265C>T (p.His89Tyr)
|
rs746125523
|
0.00007
|
NM_000135.4(FANCA):c.3008A>G (p.Asn1003Ser)
|
rs757175768
|
0.00007
|
NM_000135.4(FANCA):c.3196G>C (p.Ala1066Pro)
|
rs556235245
|
0.00007
|
NM_000135.4(FANCA):c.685G>A (p.Asp229Asn)
|
rs148419748
|
0.00007
|
NM_000135.4(FANCA):c.737G>A (p.Gly246Glu)
|
rs555519520
|
0.00007
|
NM_000136.3(FANCC):c.*1028C>T
|
rs556229977
|
0.00007
|
NM_000136.3(FANCC):c.248A>G (p.Tyr83Cys)
|
rs140992397
|
0.00007
|
NM_000136.3(FANCC):c.345+6A>T
|
rs368595927
|
0.00007
|
NM_000136.3(FANCC):c.889A>T (p.Met297Leu)
|
rs730881719
|
0.00007
|
NM_000254.3(MTR):c.2474-3T>A
|
rs771491872
|
0.00007
|
NM_000298.6(PKLR):c.1379T>C (p.Val460Ala)
|
rs149946271
|
0.00007
|
NM_000342.4(SLC4A1):c.523C>A (p.Pro175Thr)
|
rs201611359
|
0.00007
|
NM_000355.4(TCN2):c.482T>C (p.Ile161Thr)
|
rs763642038
|
0.00007
|
NM_000365.6(TPI1):c.617G>A (p.Arg206His)
|
rs782417309
|
0.00007
|
NM_000518.4(HBB):c.34G>A (p.Val12Ile)
|
rs33974228
|
0.00007
|
NM_001014.5(RPS10):c.71A>G (p.Lys24Arg)
|
rs201147592
|
0.00007
|
NM_001018115.3(FANCD2):c.1200C>A (p.Asp400Glu)
|
rs755295382
|
0.00007
|
NM_001018115.3(FANCD2):c.1757C>T (p.Ala586Val)
|
rs377490218
|
0.00007
|
NM_001018115.3(FANCD2):c.4281+328G>T
|
rs1231972897
|
0.00007
|
NM_001018115.3(FANCD2):c.817A>G (p.Ile273Val)
|
rs770985541
|
0.00007
|
NM_001063.4(TF):c.1615G>A (p.Ala539Thr)
|
rs369813809
|
0.00007
|
NM_001081.4(CUBN):c.10028C>T (p.Pro3343Leu)
|
rs150358307
|
0.00007
|
NM_001081.4(CUBN):c.1715A>T (p.His572Leu)
|
rs368231433
|
0.00007
|
NM_001081.4(CUBN):c.3391A>G (p.Thr1131Ala)
|
rs201138390
|
0.00007
|
NM_001081.4(CUBN):c.4129C>T (p.Arg1377Cys)
|
rs763563422
|
0.00007
|
NM_001081.4(CUBN):c.5397T>C (p.Arg1799=)
|
rs147772422
|
0.00007
|
NM_001081.4(CUBN):c.5794G>C (p.Glu1932Gln)
|
rs749462295
|
0.00007
|
NM_001081.4(CUBN):c.7797C>T (p.Cys2599=)
|
rs138758085
|
0.00007
|
NM_001081.4(CUBN):c.7990C>G (p.Gln2664Glu)
|
rs575118918
|
0.00007
|
NM_001081.4(CUBN):c.8301A>G (p.Ser2767=)
|
rs377258631
|
0.00007
|
NM_001081.4(CUBN):c.8891C>G (p.Ser2964Cys)
|
rs148348845
|
0.00007
|
NM_001113378.2(FANCI):c.1412C>G (p.Pro471Arg)
|
rs139072231
|
0.00007
|
NM_001113378.2(FANCI):c.3481A>G (p.Thr1161Ala)
|
rs767847271
|
0.00007
|
NM_001113378.2(FANCI):c.3946G>A (p.Gly1316Arg)
|
rs369058619
|
0.00007
|
NM_001113378.2(FANCI):c.754G>A (p.Glu252Lys)
|
rs776911782
|
0.00007
|
NM_001113378.2(FANCI):c.793C>T (p.Arg265Cys)
|
rs753511061
|
0.00007
|
NM_001114134.2(EPB42):c.177G>A (p.Val59=)
|
rs370961712
|
0.00007
|
NM_001114134.2(EPB42):c.353C>T (p.Ser118Leu)
|
rs200509497
|
0.00007
|
NM_001114134.2(EPB42):c.620A>G (p.Gln207Arg)
|
rs758323919
|
0.00007
|
NM_001243177.4(ALDOA):c.223C>T (p.His75Tyr)
|
rs766734350
|
0.00007
|
NM_001243177.4(ALDOA):c.926C>T (p.Thr309Ile)
|
rs368207656
|
0.00007
|
NM_001367805.3(KIF23):c.2246C>T (p.Thr749Met)
|
rs535792693
|
0.00007
|
NM_001386140.1(MTTP):c.1540C>T (p.Pro514Ser)
|
rs200114105
|
0.00007
|
NM_002049.4(GATA1):c.1046T>C (p.Val349Ala)
|
rs146196033
|
0.00007
|
NM_002454.3(MTRR):c.1120C>T (p.Leu374Phe)
|
rs372106115
|
0.00007
|
NM_002454.3(MTRR):c.1998A>C (p.Gln666His)
|
rs767507060
|
0.00007
|
NM_002454.3(MTRR):c.21A>G (p.Leu7=)
|
rs114427781
|
0.00007
|
NM_002485.5(NBN):c.1382C>T (p.Pro461Leu)
|
rs367760321
|
0.00007
|
NM_002485.5(NBN):c.1979G>C (p.Arg660Thr)
|
rs201781110
|
0.00007
|
NM_002485.5(NBN):c.227C>A (p.Thr76Asn)
|
rs587781412
|
0.00007
|
NM_003126.4(SPTA1):c.243T>C (p.Tyr81=)
|
rs369988146
|
0.00007
|
NM_004629.2(FANCG):c.421C>T (p.Arg141Cys)
|
rs201153812
|
0.00007
|
NM_005050.4(ABCD4):c.425+6C>T
|
rs368213518
|
0.00007
|
NM_005236.3(ERCC4):c.1684G>A (p.Asp562Asn)
|
rs55736359
|
0.00007
|
NM_005236.3(ERCC4):c.1853G>A (p.Arg618His)
|
rs760922582
|
0.00007
|
NM_005236.3(ERCC4):c.1871G>A (p.Arg624Gln)
|
rs180919656
|
0.00007
|
NM_005236.3(ERCC4):c.2248C>T (p.Arg750Cys)
|
rs374978891
|
0.00007
|
NM_005236.3(ERCC4):c.2288C>T (p.Pro763Leu)
|
rs761087753
|
0.00007
|
NM_006363.6(SEC23B):c.1636C>T (p.Arg546Trp)
|
rs147135162
|
0.00007
|
NM_006516.4(SLC2A1):c.*560T>C
|
rs545613558
|
0.00007
|
NM_006947.4(SRP72):c.*321A>G
|
rs886059499
|
0.00007
|
NM_006947.4(SRP72):c.*622G>A
|
rs775675334
|
0.00007
|
NM_017875.4(SLC25A38):c.626-5T>C
|
rs767154505
|
0.00007
|
NM_020207.7(ERCC6L2):c.1772A>G (p.Asn591Ser)
|
rs781374501
|
0.00007
|
NM_020207.7(ERCC6L2):c.2657C>T (p.Thr886Ile)
|
rs1180420541
|
0.00007
|
NM_020937.4(FANCM):c.122C>T (p.Pro41Leu)
|
rs548726090
|
0.00007
|
NM_020937.4(FANCM):c.1366G>A (p.Val456Ile)
|
rs779075398
|
0.00007
|
NM_020937.4(FANCM):c.140A>G (p.Glu47Gly)
|
rs756402229
|
0.00007
|
NM_020937.4(FANCM):c.1636G>A (p.Gly546Ser)
|
rs768676143
|
0.00007
|
NM_020937.4(FANCM):c.1742G>A (p.Arg581His)
|
rs748083548
|
0.00007
|
NM_020937.4(FANCM):c.1760T>C (p.Ile587Thr)
|
rs147805461
|
0.00007
|
NM_020937.4(FANCM):c.2716A>T (p.Ile906Phe)
|
rs773837264
|
0.00007
|
NM_020937.4(FANCM):c.3371C>T (p.Pro1124Leu)
|
rs148605513
|
0.00007
|
NM_020937.4(FANCM):c.3469G>A (p.Glu1157Lys)
|
rs374461604
|
0.00007
|
NM_020937.4(FANCM):c.3998A>C (p.Gln1333Pro)
|
rs143681767
|
0.00007
|
NM_020937.4(FANCM):c.5579G>A (p.Arg1860His)
|
rs776506025
|
0.00007
|
NM_020937.4(FANCM):c.5951A>T (p.Tyr1984Phe)
|
rs202101508
|
0.00007
|
NM_021922.3(FANCE):c.311C>G (p.Ala104Gly)
|
rs773580818
|
0.00007
|
NM_021922.3(FANCE):c.598C>T (p.Arg200Cys)
|
rs763151358
|
0.00007
|
NM_022725.4(FANCF):c.617C>T (p.Ala206Val)
|
rs756213451
|
0.00007
|
NM_024675.4(PALB2):c.2100A>T (p.Ser700=)
|
rs757145884
|
0.00007
|
NM_025215.6(PUS1):c.287G>A (p.Gly96Asp)
|
rs143828069
|
0.00007
|
NM_025215.6(PUS1):c.649G>A (p.Val217Ile)
|
rs200591614
|
0.00007
|
NM_030943.4(AMN):c.197T>C (p.Val66Ala)
|
rs371713937
|
0.00007
|
NM_032043.3(BRIP1):c.*477A>G
|
rs1030551071
|
0.00007
|
NM_032043.3(BRIP1):c.1629-11T>C
|
rs375710640
|
0.00007
|
NM_032043.3(BRIP1):c.2873T>A (p.Leu958Gln)
|
rs145859791
|
0.00007
|
NM_032444.4(SLX4):c.1232G>A (p.Arg411Gln)
|
rs201009985
|
0.00007
|
NM_032444.4(SLX4):c.1385A>G (p.Lys462Arg)
|
rs112133511
|
0.00007
|
NM_032444.4(SLX4):c.192A>G (p.Lys64=)
|
rs756720856
|
0.00007
|
NM_032444.4(SLX4):c.2005C>T (p.Arg669Cys)
|
rs375524355
|
0.00007
|
NM_032444.4(SLX4):c.2484G>C (p.Glu828Asp)
|
rs199656607
|
0.00007
|
NM_032444.4(SLX4):c.3775G>A (p.Ala1259Thr)
|
rs370663234
|
0.00007
|
NM_032444.4(SLX4):c.4393C>T (p.Arg1465Cys)
|
rs765485426
|
0.00007
|
NM_032444.4(SLX4):c.5208C>T (p.Gly1736=)
|
rs569225834
|
0.00007
|
NM_032444.4(SLX4):c.679G>A (p.Ala227Thr)
|
rs147872182
|
0.00007
|
NM_058216.3(RAD51C):c.769C>G (p.Leu257Val)
|
rs750551012
|
0.00007
|
NM_080669.6(SLC46A1):c.*3279C>T
|
rs539239937
|
0.00007
|
NM_080669.6(SLC46A1):c.849G>A (p.Gly283=)
|
rs782306668
|
0.00007
|
NM_138477.4(CDAN1):c.2984G>A (p.Arg995His)
|
rs369919247
|
0.00007
|
NM_182916.3(TRNT1):c.682A>G (p.Lys228Glu)
|
rs372627156
|
0.00007
|
NM_182916.3(TRNT1):c.848A>G (p.Lys283Arg)
|
rs201174442
|
0.00007
|
NM_198253.3(TERT):c.887A>C (p.His296Pro)
|
rs778187343
|
0.00007
|
NM_206965.2(FTCD):c.1015T>A (p.Ser339Thr)
|
rs1195012799
|
0.00007
|
NM_206965.2(FTCD):c.625G>A (p.Gly209Arg)
|
rs367906516
|
0.00007
|
NM_206965.2(FTCD):c.988G>A (p.Gly330Arg)
|
rs774835292
|
0.00007
|
NM_000037.4(ANK1):c.1628C>T (p.Ala543Val)
|
rs369233964
|
0.00006
|
NM_000037.4(ANK1):c.3443G>A (p.Arg1148Gln)
|
rs771237247
|
0.00006
|
NM_000037.4(ANK1):c.4105-5T>G
|
rs768183148
|
0.00006
|
NM_000037.4(ANK1):c.4607G>A (p.Arg1536His)
|
rs767213092
|
0.00006
|
NM_000037.4(ANK1):c.5051C>T (p.Thr1684Ile)
|
rs376601712
|
0.00006
|
NM_000037.4(ANK1):c.909+9T>C
|
rs756182531
|
0.00006
|
NM_000059.4(BRCA2):c.2025A>G (p.Thr675=)
|
rs147381487
|
0.00006
|
NM_000059.4(BRCA2):c.4828G>A (p.Val1610Met)
|
rs80358705
|
0.00006
|
NM_000059.4(BRCA2):c.7051G>A (p.Ala2351Thr)
|
rs80358930
|
0.00006
|
NM_000096.3(CP):c.-199C>G
|
rs772691705
|
0.00006
|
NM_000096.4(CP):c.2681T>C (p.Ile894Thr)
|
rs148809294
|
0.00006
|
NM_000096.4(CP):c.3130G>A (p.Asp1044Asn)
|
rs149217680
|
0.00006
|
NM_000096.4(CP):c.921G>T (p.Lys307Asn)
|
rs543777038
|
0.00006
|
NM_000135.4(FANCA):c.*447T>C
|
rs771942409
|
0.00006
|
NM_000135.4(FANCA):c.1018G>A (p.Val340Ile)
|
rs774948790
|
0.00006
|
NM_000135.4(FANCA):c.1226-4C>G
|
rs934483477
|
0.00006
|
NM_000135.4(FANCA):c.1312G>A (p.Ala438Thr)
|
rs752587443
|
0.00006
|
NM_000135.4(FANCA):c.1445C>G (p.Pro482Arg)
|
rs768676657
|
0.00006
|
NM_000135.4(FANCA):c.1756G>A (p.Ala586Thr)
|
rs201212806
|
0.00006
|
NM_000135.4(FANCA):c.1806G>A (p.Ala602=)
|
rs550064744
|
0.00006
|
NM_000135.4(FANCA):c.2778+83C>T
|
rs750997715
|
0.00006
|
NM_000135.4(FANCA):c.3349-3C>T
|
rs373861415
|
0.00006
|
NM_000135.4(FANCA):c.3766-14G>A
|
rs34476949
|
0.00006
|
NM_000135.4(FANCA):c.3950G>A (p.Arg1317Gln)
|
rs376523966
|
0.00006
|
NM_000135.4(FANCA):c.3962G>A (p.Arg1321His)
|
rs374649848
|
0.00006
|
NM_000135.4(FANCA):c.4064A>T (p.His1355Leu)
|
rs145886270
|
0.00006
|
NM_000135.4(FANCA):c.4232C>T (p.Pro1411Leu)
|
rs201494304
|
0.00006
|
NM_000135.4(FANCA):c.4244T>G (p.Phe1415Cys)
|
rs201658945
|
0.00006
|
NM_000135.4(FANCA):c.4273C>T (p.Arg1425Cys)
|
rs587778321
|
0.00006
|
NM_000135.4(FANCA):c.4300G>A (p.Ala1434Thr)
|
rs374984587
|
0.00006
|
NM_000135.4(FANCA):c.812A>C (p.Gln271Pro)
|
rs762721928
|
0.00006
|
NM_000136.3(FANCC):c.*1649A>G
|
rs560444013
|
0.00006
|
NM_000136.3(FANCC):c.1607T>C (p.Leu536Pro)
|
rs587779903
|
0.00006
|
NM_000136.3(FANCC):c.609C>T (p.Leu203=)
|
rs567226063
|
0.00006
|
NM_000136.3(FANCC):c.733C>T (p.Arg245Trp)
|
rs571548182
|
0.00006
|
NM_000136.3(FANCC):c.767A>G (p.His256Arg)
|
rs730881716
|
0.00006
|
NM_000136.3(FANCC):c.843+5G>A
|
rs369082921
|
0.00006
|
NM_000136.3(FANCC):c.974C>T (p.Ala325Val)
|
rs367618818
|
0.00006
|
NM_000175.5(GPI):c.1325C>T (p.Thr442Met)
|
rs758328180
|
0.00006
|
NM_000186.4(CFH):c.1922T>C (p.Val641Ala)
|
rs371768180
|
0.00006
|
NM_000186.4(CFH):c.2195C>T (p.Thr732Met)
|
rs201360629
|
0.00006
|
NM_000254.3(MTR):c.1310C>A (p.Ser437Tyr)
|
rs368619885
|
0.00006
|
NM_000254.3(MTR):c.2861C>T (p.Thr954Met)
|
rs146931200
|
0.00006
|
NM_000254.3(MTR):c.3188A>G (p.Tyr1063Cys)
|
rs769801712
|
0.00006
|
NM_000254.3(MTR):c.55C>T (p.Arg19Trp)
|
rs376681897
|
0.00006
|
NM_000254.3(MTR):c.901C>G (p.Pro301Ala)
|
rs766371534
|
0.00006
|
NM_000289.6(PFKM):c.1060G>A (p.Val354Met)
|
rs930337550
|
0.00006
|
NM_000289.6(PFKM):c.2308A>G (p.Ile770Val)
|
rs950246136
|
0.00006
|
NM_000289.6(PFKM):c.857G>A (p.Arg286His)
|
rs768496070
|
0.00006
|
NM_000342.4(SLC4A1):c.*1198A>T
|
rs886052992
|
0.00006
|
NM_000342.4(SLC4A1):c.*1305G>A
|
rs566138996
|
0.00006
|
NM_000342.4(SLC4A1):c.*1393A>T
|
rs139308660
|
0.00006
|
NM_000342.4(SLC4A1):c.2625G>A (p.Pro875=)
|
rs202243808
|
0.00006
|
NM_000342.4(SLC4A1):c.2630T>C (p.Ile877Thr)
|
rs765911147
|
0.00006
|
NM_000342.4(SLC4A1):c.454G>A (p.Glu152Lys)
|
rs55840505
|
0.00006
|
NM_000342.4(SLC4A1):c.985G>A (p.Glu329Lys)
|
rs141370158
|
0.00006
|
NM_000355.4(TCN2):c.139C>A (p.Leu47Met)
|
rs200833932
|
0.00006
|
NM_000355.4(TCN2):c.391C>T (p.Leu131Phe)
|
rs747887520
|
0.00006
|
NM_000355.4(TCN2):c.667A>G (p.Ile223Val)
|
rs144889471
|
0.00006
|
NM_000365.6(TPI1):c.*253G>T
|
rs782730165
|
0.00006
|
NM_000373.4(UMPS):c.*37C>T
|
rs747349290
|
0.00006
|
NM_000373.4(UMPS):c.*4231A>G
|
rs886057895
|
0.00006
|
NM_000375.3(UROS):c.-232G>A
|
rs886046815
|
0.00006
|
NM_000518.5(HBB):c.*132C>A
|
rs1420779550
|
0.00006
|
NM_000617.3(SLC11A2):c.*1599C>T
|
rs886049559
|
0.00006
|
NM_000617.3(SLC11A2):c.*415G>A
|
rs765348165
|
0.00006
|
NM_000617.3(SLC11A2):c.1584A>G (p.Gln528=)
|
rs761505350
|
0.00006
|
NM_000637.5(GSR):c.1334C>T (p.Thr445Met)
|
rs778165636
|
0.00006
|
NM_000969.5(RPL5):c.691G>A (p.Val231Ile)
|
rs568863745
|
0.00006
|
NM_000975.5(RPL11):c.158-7C>T
|
rs768654673
|
0.00006
|
NM_000996.4(RPL35A):c.34G>A (p.Ala12Thr)
|
rs533670667
|
0.00006
|
NM_001011.4(RPS7):c.-27C>T
|
rs573443780
|
0.00006
|
NM_001011.4(RPS7):c.-3G>A
|
rs751847851
|
0.00006
|
NM_001018115.3(FANCD2):c.-33-13G>A
|
rs113338938
|
0.00006
|
NM_001018115.3(FANCD2):c.1085A>G (p.Glu362Gly)
|
rs951763949
|
0.00006
|
NM_001018115.3(FANCD2):c.1546-8T>C
|
rs530202330
|
0.00006
|
NM_001018115.3(FANCD2):c.1601A>G (p.Tyr534Cys)
|
rs143701205
|
0.00006
|
NM_001018115.3(FANCD2):c.2345T>C (p.Met782Thr)
|
rs760428640
|
0.00006
|
NM_001018115.3(FANCD2):c.2859+13C>G
|
rs376913349
|
0.00006
|
NM_001018115.3(FANCD2):c.3290G>A (p.Arg1097Gln)
|
rs755748094
|
0.00006
|
NM_001018115.3(FANCD2):c.356G>A (p.Arg119His)
|
rs566769898
|
0.00006
|
NM_001018115.3(FANCD2):c.4186-13C>T
|
rs755767180
|
0.00006
|
NM_001018115.3(FANCD2):c.4281+257C>T
|
rs886057694
|
0.00006
|
NM_001018115.3(FANCD2):c.796G>A (p.Val266Met)
|
rs530125285
|
0.00006
|
NM_001022.3(RPS19):c.-74C>T
|
rs886054468
|
0.00006
|
NM_001022.4(RPS19):c.208G>A (p.Ala70Thr)
|
rs782368794
|
0.00006
|
NM_001040436.3(YARS2):c.*478G>A
|
rs925773588
|
0.00006
|
NM_001040436.3(YARS2):c.810C>T (p.Thr270=)
|
rs145906298
|
0.00006
|
NM_001063.4(TF):c.154G>A (p.Asp52Asn)
|
rs41298295
|
0.00006
|
NM_001081.4(CUBN):c.*298G>A
|
rs529415832
|
0.00006
|
NM_001081.4(CUBN):c.*416G>A
|
rs886046856
|
0.00006
|
NM_001081.4(CUBN):c.165G>A (p.Thr55=)
|
rs370127775
|
0.00006
|
NM_001081.4(CUBN):c.1999A>G (p.Thr667Ala)
|
rs141089159
|
0.00006
|
NM_001081.4(CUBN):c.2120G>A (p.Arg707His)
|
rs763524933
|
0.00006
|
NM_001081.4(CUBN):c.2610A>G (p.Glu870=)
|
rs143471343
|
0.00006
|
NM_001081.4(CUBN):c.348+10A>G
|
rs373954000
|
0.00006
|
NM_001081.4(CUBN):c.3802C>T (p.Arg1268Cys)
|
rs747558831
|
0.00006
|
NM_001081.4(CUBN):c.5092G>A (p.Gly1698Ser)
|
rs201661017
|
0.00006
|
NM_001081.4(CUBN):c.6187C>T (p.Arg2063Trp)
|
rs781180388
|
0.00006
|
NM_001081.4(CUBN):c.7106G>T (p.Gly2369Val)
|
rs200593316
|
0.00006
|
NM_001081.4(CUBN):c.735C>T (p.Cys245=)
|
rs766772944
|
0.00006
|
NM_001081.4(CUBN):c.8056T>C (p.Phe2686Leu)
|
rs755819982
|
0.00006
|
NM_001081.4(CUBN):c.879A>G (p.Pro293=)
|
rs142466038
|
0.00006
|
NM_001081.4(CUBN):c.9298G>A (p.Asp3100Asn)
|
rs202189846
|
0.00006
|
NM_001083116.3(PRF1):c.1636C>G (p.Pro546Ala)
|
rs550799905
|
0.00006
|
NM_001113378.2(FANCI):c.1111A>G (p.Ser371Gly)
|
rs149008055
|
0.00006
|
NM_001113378.2(FANCI):c.1112+3A>G
|
rs367970067
|
0.00006
|
NM_001113378.2(FANCI):c.1250A>G (p.His417Arg)
|
rs377227097
|
0.00006
|
NM_001113378.2(FANCI):c.206A>G (p.Tyr69Cys)
|
rs1414995711
|
0.00006
|
NM_001113378.2(FANCI):c.2203A>G (p.Ile735Val)
|
rs377308647
|
0.00006
|
NM_001113378.2(FANCI):c.2292-11G>C
|
rs763570868
|
0.00006
|
NM_001113378.2(FANCI):c.2434A>G (p.Ser812Gly)
|
rs768500794
|
0.00006
|
NM_001113378.2(FANCI):c.2507A>G (p.Asn836Ser)
|
rs933284199
|
0.00006
|
NM_001113378.2(FANCI):c.2833G>C (p.Glu945Gln)
|
rs142322239
|
0.00006
|
NM_001113378.2(FANCI):c.288+10C>T
|
rs370505986
|
0.00006
|
NM_001113378.2(FANCI):c.3255T>G (p.Cys1085Trp)
|
rs755403672
|
0.00006
|
NM_001113378.2(FANCI):c.713G>A (p.Ser238Asn)
|
rs779604966
|
0.00006
|
NM_001114134.2(EPB42):c.10+97G>A
|
rs372291145
|
0.00006
|
NM_001114134.2(EPB42):c.1007G>A (p.Arg336Gln)
|
rs374503872
|
0.00006
|
NM_001114134.2(EPB42):c.137G>A (p.Arg46His)
|
rs202154600
|
0.00006
|
NM_001142285.2(RPS24):c.799C>G (p.Pro267Ala)
|
rs931570987
|
0.00006
|
NM_001243177.4(ALDOA):c.1107C>T (p.Gly369=)
|
rs142315181
|
0.00006
|
NM_001243177.4(ALDOA):c.382A>C (p.Ile128Leu)
|
rs747788394
|
0.00006
|
NM_001360016.2(G6PD):c.1021G>A (p.Val341Ile)
|
rs782174983
|
0.00006
|
NM_001374504.1(TMPRSS6):c.1085C>T (p.Thr362Met)
|
rs144261072
|
0.00006
|
NM_001374504.1(TMPRSS6):c.127C>T (p.Arg43Cys)
|
rs750274321
|
0.00006
|
NM_001386140.1(MTTP):c.*1118C>T
|
rs144013236
|
0.00006
|
NM_001386140.1(MTTP):c.393+11G>A
|
rs367982075
|
0.00006
|
NM_001386140.1(MTTP):c.558C>G (p.Ile186Met)
|
rs375982037
|
0.00006
|
NM_001386140.1(MTTP):c.915G>A (p.Ser305=)
|
rs199716549
|
0.00006
|
NM_002204.4(ITGA3):c.1766G>C (p.Arg589Pro)
|
rs377230398
|
0.00006
|
NM_002454.3(MTRR):c.1246T>C (p.Phe416Leu)
|
rs769915505
|
0.00006
|
NM_002454.3(MTRR):c.1537G>A (p.Gly513Arg)
|
rs150411351
|
0.00006
|
NM_002454.3(MTRR):c.383A>G (p.His128Arg)
|
rs185235284
|
0.00006
|
NM_002454.3(MTRR):c.952C>T (p.Pro318Ser)
|
rs375421492
|
0.00006
|
NM_002485.5(NBN):c.1729G>T (p.Asp577Tyr)
|
rs587781881
|
0.00006
|
NM_002693.3(POLG):c.3650C>T (p.Ala1217Val)
|
rs199751339
|
0.00006
|
NM_002693.3(POLG):c.3701G>A (p.Arg1234Gln)
|
rs750792237
|
0.00006
|
NM_003126.4(SPTA1):c.*294A>G
|
rs886045378
|
0.00006
|
NM_003126.4(SPTA1):c.*39G>A
|
rs202171095
|
0.00006
|
NM_003126.4(SPTA1):c.1350+13A>G
|
rs746352918
|
0.00006
|
NM_003126.4(SPTA1):c.1588G>A (p.Glu530Lys)
|
rs767641820
|
0.00006
|
NM_003126.4(SPTA1):c.2267T>C (p.Ile756Thr)
|
rs118088187
|
0.00006
|
NM_003126.4(SPTA1):c.2612C>T (p.Ala871Val)
|
rs375610306
|
0.00006
|
NM_003126.4(SPTA1):c.3072C>T (p.Gly1024=)
|
rs747751954
|
0.00006
|
NM_003126.4(SPTA1):c.444G>A (p.Leu148=)
|
rs557685746
|
0.00006
|
NM_003126.4(SPTA1):c.4708G>A (p.Ala1570Thr)
|
rs778626016
|
0.00006
|
NM_003126.4(SPTA1):c.5049G>T (p.Gln1683His)
|
rs746762359
|
0.00006
|
NM_003126.4(SPTA1):c.5311-4T>A
|
rs544472935
|
0.00006
|
NM_003126.4(SPTA1):c.54G>A (p.Leu18=)
|
rs199690643
|
0.00006
|
NM_003126.4(SPTA1):c.6991A>G (p.Lys2331Glu)
|
rs747391167
|
0.00006
|
NM_004629.2(FANCG):c.-19G>A
|
rs762155734
|
0.00006
|
NM_004629.2(FANCG):c.1297C>T (p.Arg433Trp)
|
rs183777537
|
0.00006
|
NM_004629.2(FANCG):c.1801C>T (p.Arg601Cys)
|
rs368098479
|
0.00006
|
NM_004629.2(FANCG):c.1808C>T (p.Ser603Phe)
|
rs17878854
|
0.00006
|
NM_004629.2(FANCG):c.724C>T (p.Arg242Trp)
|
rs574511407
|
0.00006
|
NM_004629.2(FANCG):c.968T>C (p.Ile323Thr)
|
rs752346718
|
0.00006
|
NM_005142.3(CBLIF):c.1055G>A (p.Arg352His)
|
rs771992791
|
0.00006
|
NM_005142.3(CBLIF):c.379G>A (p.Ala127Thr)
|
rs760404861
|
0.00006
|
NM_005236.3(ERCC4):c.145C>T (p.Leu49Phe)
|
rs552142099
|
0.00006
|
NM_005236.3(ERCC4):c.1728A>T (p.Arg576Ser)
|
rs765454246
|
0.00006
|
NM_005236.3(ERCC4):c.2218C>T (p.Arg740Cys)
|
rs376688194
|
0.00006
|
NM_005236.3(ERCC4):c.257G>A (p.Arg86His)
|
rs187435008
|
0.00006
|
NM_005236.3(ERCC4):c.2603A>C (p.His868Pro)
|
rs368064765
|
0.00006
|
NM_005236.3(ERCC4):c.260G>A (p.Arg87His)
|
rs371487368
|
0.00006
|
NM_005236.3(ERCC4):c.2725G>A (p.Val909Ile)
|
rs140726146
|
0.00006
|
NM_005373.3(MPL):c.622C>A (p.Gln208Lys)
|
rs111460954
|
0.00006
|
NM_005431.2(XRCC2):c.643C>T (p.Arg215Ter)
|
rs143153871
|
0.00006
|
NM_006363.5(SEC23B):c.-394A>C
|
rs561908920
|
0.00006
|
NM_006516.4(SLC2A1):c.1016T>C (p.Ile339Thr)
|
rs141619735
|
0.00006
|
NM_006516.4(SLC2A1):c.188C>T (p.Thr63Met)
|
rs200828053
|
0.00006
|
NM_006947.4(SRP72):c.*1241C>T
|
rs1282273094
|
0.00006
|
NM_006996.3(SLC19A2):c.-2G>A
|
rs886045531
|
0.00006
|
NM_006996.3(SLC19A2):c.10C>T (p.Pro4Ser)
|
rs886045530
|
0.00006
|
NM_006996.3(SLC19A2):c.795C>T (p.Pro265=)
|
rs201489069
|
0.00006
|
NM_015506.3(MMACHC):c.688C>T (p.Arg230Ter)
|
rs201183360
|
0.00006
|
NM_015702.3(MMADHC):c.*241A>G
|
rs528409808
|
0.00006
|
NM_015702.3(MMADHC):c.254A>G (p.Asn85Ser)
|
rs767542742
|
0.00006
|
NM_015702.3(MMADHC):c.515A>C (p.Lys172Thr)
|
rs147318949
|
0.00006
|
NM_018062.4(FANCL):c.273+7A>C
|
rs745366278
|
0.00006
|
NM_018062.4(FANCL):c.288G>T (p.Lys96Asn)
|
rs770368316
|
0.00006
|
NM_018062.4(FANCL):c.335C>T (p.Ser112Leu)
|
rs756590256
|
0.00006
|
NM_018062.4(FANCL):c.4G>T (p.Ala2Ser)
|
rs144057264
|
0.00006
|
NM_018062.4(FANCL):c.661C>T (p.Arg221Trp)
|
rs772025061
|
0.00006
|
NM_018368.4(LMBRD1):c.1343A>C (p.Asn448Thr)
|
rs375328924
|
0.00006
|
NM_018368.4(LMBRD1):c.1438A>G (p.Thr480Ala)
|
rs138023744
|
0.00006
|
NM_018368.4(LMBRD1):c.1510G>T (p.Val504Leu)
|
rs980145400
|
0.00006
|
NM_018368.4(LMBRD1):c.562C>T (p.His188Tyr)
|
rs554554993
|
0.00006
|
NM_018368.4(LMBRD1):c.94T>C (p.Tyr32His)
|
rs373241693
|
0.00006
|
NM_020937.4(FANCM):c.1193G>A (p.Arg398Gln)
|
rs530233908
|
0.00006
|
NM_020937.4(FANCM):c.1222G>C (p.Asp408His)
|
rs199929558
|
0.00006
|
NM_020937.4(FANCM):c.179C>A (p.Ala60Glu)
|
rs200717151
|
0.00006
|
NM_020937.4(FANCM):c.187G>A (p.Glu63Lys)
|
rs768419961
|
0.00006
|
NM_020937.4(FANCM):c.2452A>G (p.Ile818Val)
|
rs199948045
|
0.00006
|
NM_020937.4(FANCM):c.3499A>G (p.Ile1167Val)
|
rs573485502
|
0.00006
|
NM_020937.4(FANCM):c.3731A>G (p.Glu1244Gly)
|
rs746030136
|
0.00006
|
NM_020937.4(FANCM):c.3794A>G (p.Glu1265Gly)
|
rs763808637
|
0.00006
|
NM_020937.4(FANCM):c.3868A>G (p.Thr1290Ala)
|
rs774044128
|
0.00006
|
NM_020937.4(FANCM):c.4708C>T (p.Arg1570Cys)
|
rs139376041
|
0.00006
|
NM_020937.4(FANCM):c.4934G>A (p.Arg1645His)
|
rs377502779
|
0.00006
|
NM_020937.4(FANCM):c.5770A>T (p.Thr1924Ser)
|
rs747103379
|
0.00006
|
NM_020937.4(FANCM):c.6041T>C (p.Val2014Ala)
|
rs374376462
|
0.00006
|
NM_020937.4(FANCM):c.6143T>C (p.Ile2048Thr)
|
rs150447576
|
0.00006
|
NM_021922.3(FANCE):c.145G>A (p.Ala49Thr)
|
rs1225225979
|
0.00006
|
NM_021922.3(FANCE):c.17C>T (p.Ala6Val)
|
rs1019486578
|
0.00006
|
NM_021922.3(FANCE):c.316C>T (p.Arg106Trp)
|
rs759034838
|
0.00006
|
NM_021922.3(FANCE):c.524G>A (p.Gly175Asp)
|
rs765538271
|
0.00006
|
NM_021922.3(FANCE):c.552A>C (p.Pro184=)
|
rs138182352
|
0.00006
|
NM_022725.4(FANCF):c.*1535T>A
|
rs886048151
|
0.00006
|
NM_022725.4(FANCF):c.404G>T (p.Arg135Leu)
|
rs759515146
|
0.00006
|
NM_022725.4(FANCF):c.887G>T (p.Gly296Val)
|
rs571674814
|
0.00006
|
NM_024675.4(PALB2):c.2506G>C (p.Val836Leu)
|
rs536644825
|
0.00006
|
NM_024675.4(PALB2):c.3428T>A (p.Leu1143His)
|
rs62625284
|
0.00006
|
NM_025215.6(PUS1):c.365G>A (p.Arg122Gln)
|
rs199863621
|
0.00006
|
NM_025215.6(PUS1):c.972C>T (p.Asp324=)
|
rs200065515
|
0.00006
|
NM_030943.4(AMN):c.805C>T (p.Arg269Trp)
|
rs200712130
|
0.00006
|
NM_032043.3(BRIP1):c.1140+11G>A
|
rs369153270
|
0.00006
|
NM_032043.3(BRIP1):c.1629-3T>C
|
rs587780828
|
0.00006
|
NM_032043.3(BRIP1):c.2087C>T (p.Pro696Leu)
|
rs147755155
|
0.00006
|
NM_032043.3(BRIP1):c.2233G>A (p.Ala745Thr)
|
rs587780235
|
0.00006
|
NM_032043.3(BRIP1):c.3103C>T (p.Arg1035Cys)
|
rs45437094
|
0.00006
|
NM_032043.3(BRIP1):c.413T>C (p.Leu138Ser)
|
rs587780251
|
0.00006
|
NM_032043.3(BRIP1):c.550G>T (p.Asp184Tyr)
|
rs201047375
|
0.00006
|
NM_032043.3(BRIP1):c.653G>A (p.Cys218Tyr)
|
rs754242563
|
0.00006
|
NM_032043.3(BRIP1):c.689C>T (p.Ser230Leu)
|
rs759031349
|
0.00006
|
NM_032444.4(SLX4):c.-19G>A
|
rs113845637
|
0.00006
|
NM_032444.4(SLX4):c.-395C>T
|
rs886051984
|
0.00006
|
NM_032444.4(SLX4):c.-41A>G
|
rs772911988
|
0.00006
|
NM_032444.4(SLX4):c.-46G>A
|
rs113023461
|
0.00006
|
NM_032444.4(SLX4):c.1010C>T (p.Pro337Leu)
|
rs200363140
|
0.00006
|
NM_032444.4(SLX4):c.1160T>A (p.Phe387Tyr)
|
rs767298613
|
0.00006
|
NM_032444.4(SLX4):c.1243G>A (p.Glu415Lys)
|
rs146021821
|
0.00006
|
NM_032444.4(SLX4):c.1415T>C (p.Leu472Ser)
|
rs776189589
|
0.00006
|
NM_032444.4(SLX4):c.1442G>A (p.Arg481Gln)
|
rs145194745
|
0.00006
|
NM_032444.4(SLX4):c.1455C>A (p.Asp485Glu)
|
rs150053867
|
0.00006
|
NM_032444.4(SLX4):c.1702G>A (p.Val568Met)
|
rs371825444
|
0.00006
|
NM_032444.4(SLX4):c.1904C>T (p.Ala635Val)
|
rs746717279
|
0.00006
|
NM_032444.4(SLX4):c.2381A>T (p.Asp794Val)
|
rs201622632
|
0.00006
|
NM_032444.4(SLX4):c.258A>G (p.Ile86Met)
|
rs112205823
|
0.00006
|
NM_032444.4(SLX4):c.2749G>A (p.Ala917Thr)
|
rs148428054
|
0.00006
|
NM_032444.4(SLX4):c.2753C>T (p.Thr918Ile)
|
rs781323142
|
0.00006
|
NM_032444.4(SLX4):c.2941G>A (p.Gly981Arg)
|
rs546628836
|
0.00006
|
NM_032444.4(SLX4):c.3068C>A (p.Ala1023Asp)
|
rs769271628
|
0.00006
|
NM_032444.4(SLX4):c.3101G>A (p.Arg1034His)
|
rs150453226
|
0.00006
|
NM_032444.4(SLX4):c.3844C>T (p.Leu1282=)
|
rs772652088
|
0.00006
|
NM_032444.4(SLX4):c.4146C>A (p.Ser1382Arg)
|
rs926938694
|
0.00006
|
NM_032444.4(SLX4):c.4530G>T (p.Leu1510=)
|
rs139254595
|
0.00006
|
NM_032444.4(SLX4):c.5072A>G (p.Asn1691Ser)
|
rs551385115
|
0.00006
|
NM_032444.4(SLX4):c.5441G>A (p.Arg1814His)
|
rs201036767
|
0.00006
|
NM_032444.4(SLX4):c.5477G>A (p.Arg1826Gln)
|
rs373558741
|
0.00006
|
NM_032444.4(SLX4):c.996G>T (p.Gln332His)
|
rs377201471
|
0.00006
|
NM_058216.3(RAD51C):c.1108C>T (p.Arg370Ter)
|
rs756744016
|
0.00006
|
NM_058216.3(RAD51C):c.134A>G (p.Glu45Gly)
|
rs587781383
|
0.00006
|
NM_058216.3(RAD51C):c.14C>T (p.Thr5Met)
|
rs201523760
|
0.00006
|
NM_058216.3(RAD51C):c.428A>G (p.Gln143Arg)
|
rs587780255
|
0.00006
|
NM_058216.3(RAD51C):c.492T>G (p.Phe164Leu)
|
rs573992101
|
0.00006
|
NM_080669.6(SLC46A1):c.*1062G>A
|
rs535633260
|
0.00006
|
NM_080669.6(SLC46A1):c.*11C>T
|
rs782615925
|
0.00006
|
NM_080669.6(SLC46A1):c.*3135A>G
|
rs762983414
|
0.00006
|
NM_080669.6(SLC46A1):c.*476G>A
|
rs893997849
|
0.00006
|
NM_080669.6(SLC46A1):c.898G>A (p.Asp300Asn)
|
rs201540617
|
0.00006
|
NM_138477.4(CDAN1):c.1964C>T (p.Pro655Leu)
|
rs368192130
|
0.00006
|
NM_138477.4(CDAN1):c.2008-15C>T
|
rs774076440
|
0.00006
|
NM_138477.4(CDAN1):c.2263-8C>T
|
rs757508400
|
0.00006
|
NM_138477.4(CDAN1):c.3316G>A (p.Glu1106Lys)
|
rs551196529
|
0.00006
|
NM_174936.4(PCSK9):c.1976G>T (p.Arg659Leu)
|
rs780214893
|
0.00006
|
NM_182916.3(TRNT1):c.1045T>G (p.Phe349Val)
|
rs760473412
|
0.00006
|
NM_182916.3(TRNT1):c.1066C>T (p.Pro356Ser)
|
rs375726663
|
0.00006
|
NM_182916.3(TRNT1):c.1081C>T (p.Arg361Cys)
|
rs770721227
|
0.00006
|
NM_198253.3(TERT):c.159G>C (p.Gln53His)
|
rs1060503006
|
0.00006
|
NM_198253.3(TERT):c.2654+10G>A
|
rs375473823
|
0.00006
|
NM_206965.2(FTCD):c.1336C>T (p.Arg446Trp)
|
rs201966668
|
0.00006
|
NM_206965.2(FTCD):c.1540A>G (p.Ile514Val)
|
rs369754449
|
0.00006
|
NM_206965.2(FTCD):c.236A>C (p.Gln79Pro)
|
rs775726030
|
0.00006
|
NM_206965.2(FTCD):c.403C>T (p.Arg135Cys)
|
rs28941768
|
0.00006
|
NM_206965.2(FTCD):c.532G>T (p.Ala178Ser)
|
rs911364543
|
0.00006
|
NM_000037.4(ANK1):c.*1412G>A
|
rs987022893
|
0.00005
|
NM_000037.4(ANK1):c.1197G>A (p.Ala399=)
|
rs756075877
|
0.00005
|
NM_000037.4(ANK1):c.1521G>A (p.Leu507=)
|
rs374623408
|
0.00005
|
NM_000037.4(ANK1):c.3941A>C (p.His1314Pro)
|
rs753586006
|
0.00005
|
NM_000037.4(ANK1):c.5061C>G (p.Pro1687=)
|
rs751121091
|
0.00005
|
NM_000059.4(BRCA2):c.*134C>T
|
rs1228334381
|
0.00005
|
NM_000059.4(BRCA2):c.5268A>G (p.Val1756=)
|
rs199879914
|
0.00005
|
NM_000059.4(BRCA2):c.9592T>C (p.Cys3198Arg)
|
rs80359229
|
0.00005
|
NM_000096.4(CP):c.*912C>G
|
rs149920453
|
0.00005
|
NM_000096.4(CP):c.1131C>T (p.Ala377=)
|
rs150733154
|
0.00005
|
NM_000096.4(CP):c.1132G>A (p.Ala378Thr)
|
rs141270807
|
0.00005
|
NM_000096.4(CP):c.1472A>G (p.Tyr491Cys)
|
rs373531113
|
0.00005
|
NM_000135.4(FANCA):c.1049G>A (p.Arg350Gln)
|
rs199967286
|
0.00005
|
NM_000135.4(FANCA):c.2015-5C>T
|
rs780349960
|
0.00005
|
NM_000135.4(FANCA):c.2080G>A (p.Asp694Asn)
|
rs201589909
|
0.00005
|
NM_000135.4(FANCA):c.2152-13T>C
|
rs752105563
|
0.00005
|
NM_000135.4(FANCA):c.2212C>T (p.Pro738Ser)
|
rs751015814
|
0.00005
|
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln)
|
rs372254398
|
0.00005
|
NM_000135.4(FANCA):c.2735C>T (p.Thr912Ile)
|
rs376302719
|
0.00005
|
NM_000135.4(FANCA):c.2778+10C>T
|
rs371786839
|
0.00005
|
NM_000135.4(FANCA):c.3536C>G (p.Pro1179Arg)
|
rs141422170
|
0.00005
|
NM_000135.4(FANCA):c.4325C>G (p.Ala1442Gly)
|
rs144171225
|
0.00005
|
NM_000135.4(FANCA):c.527C>T (p.Ser176Phe)
|
rs35566151
|
0.00005
|
NM_000135.4(FANCA):c.953G>T (p.Arg318Met)
|
rs72552377
|
0.00005
|
NM_000136.3(FANCC):c.*884C>T
|
rs1038927110
|
0.00005
|
NM_000136.3(FANCC):c.1241C>T (p.Ser414Leu)
|
rs200719554
|
0.00005
|
NM_000136.3(FANCC):c.1316G>A (p.Arg439Lys)
|
rs730881723
|
0.00005
|
NM_000136.3(FANCC):c.1406C>T (p.Thr469Met)
|
rs149917017
|
0.00005
|
NM_000136.3(FANCC):c.1494T>C (p.Ala498=)
|
rs76895298
|
0.00005
|
NM_000136.3(FANCC):c.1560C>T (p.His520=)
|
rs150020474
|
0.00005
|
NM_000136.3(FANCC):c.1603C>T (p.Arg535Cys)
|
rs185822330
|
0.00005
|
NM_000136.3(FANCC):c.395C>G (p.Ala132Gly)
|
rs587779905
|
0.00005
|
NM_000136.3(FANCC):c.800A>G (p.Asn267Ser)
|
rs200854639
|
0.00005
|
NM_000136.3(FANCC):c.897-8T>C
|
rs878853673
|
0.00005
|
NM_000175.5(GPI):c.671C>T (p.Thr224Met)
|
rs61754634
|
0.00005
|
NM_000186.4(CFH):c.3160G>A (p.Val1054Ile)
|
rs757426928
|
0.00005
|
NM_000254.3(MTR):c.2117A>G (p.Asn706Ser)
|
rs147670189
|
0.00005
|
NM_000254.3(MTR):c.764+6T>C
|
rs377357761
|
0.00005
|
NM_000289.6(PFKM):c.722A>G (p.Glu241Gly)
|
rs148544344
|
0.00005
|
NM_000298.6(PKLR):c.122G>A (p.Arg41Gln)
|
rs374805791
|
0.00005
|
NM_000298.6(PKLR):c.731G>A (p.Gly244Asp)
|
rs774192277
|
0.00005
|
NM_000342.4(SLC4A1):c.*431T>C
|
rs951207868
|
0.00005
|
NM_000342.4(SLC4A1):c.*977G>A
|
rs886052993
|
0.00005
|
NM_000342.4(SLC4A1):c.2193C>T (p.Ser731=)
|
rs754017629
|
0.00005
|
NM_000342.4(SLC4A1):c.706T>G (p.Phe236Val)
|
rs141605301
|
0.00005
|
NM_000355.4(TCN2):c.-34A>G
|
rs199511962
|
0.00005
|
NM_000355.4(TCN2):c.409G>A (p.Asp137Asn)
|
rs775586639
|
0.00005
|
NM_000355.4(TCN2):c.857C>T (p.Ala286Val)
|
rs149231407
|
0.00005
|
NM_000355.4(TCN2):c.970C>T (p.Pro324Ser)
|
rs149299209
|
0.00005
|
NM_000373.4(UMPS):c.*1342C>T
|
rs183081203
|
0.00005
|
NM_000373.4(UMPS):c.*1520del
|
rs758378045
|
0.00005
|
NM_000373.4(UMPS):c.*2231G>A
|
rs531076251
|
0.00005
|
NM_000373.4(UMPS):c.1316T>C (p.Ile439Thr)
|
rs201516429
|
0.00005
|
NM_000384.3(APOB):c.5913G>A (p.Leu1971=)
|
rs374251542
|
0.00005
|
NM_000398.7(CYB5R3):c.89C>T (p.Ser30Phe)
|
rs147960720
|
0.00005
|
NM_000518.5(HBB):c.316-30A>C
|
rs193922558
|
0.00005
|
NM_000617.3(SLC11A2):c.290G>C (p.Gly97Ala)
|
rs138686455
|
0.00005
|
NM_000617.3(SLC11A2):c.932A>G (p.Asn311Ser)
|
rs769742722
|
0.00005
|
NM_000969.5(RPL5):c.228C>T (p.Cys76=)
|
rs370284124
|
0.00005
|
NM_000996.4(RPL35A):c.12-5C>G
|
rs541454864
|
0.00005
|
NM_001018113.3(FANCB):c.2146A>T (p.Ile716Phe)
|
rs373141774
|
0.00005
|
NM_001018113.3(FANCB):c.2267T>C (p.Ile756Thr)
|
rs756392097
|
0.00005
|
NM_001018115.3(FANCD2):c.1373A>G (p.Tyr458Cys)
|
rs535519170
|
0.00005
|
NM_001018115.3(FANCD2):c.1675A>G (p.Ile559Val)
|
rs201408009
|
0.00005
|
NM_001018115.3(FANCD2):c.2068G>A (p.Asp690Asn)
|
rs534038231
|
0.00005
|
NM_001018115.3(FANCD2):c.696-11A>G
|
rs376488313
|
0.00005
|
NM_001018115.3(FANCD2):c.836C>T (p.Pro279Leu)
|
rs752880854
|
0.00005
|
NM_001018115.3(FANCD2):c.943C>T (p.Arg315Trp)
|
rs778865461
|
0.00005
|
NM_001040436.3(YARS2):c.477C>T (p.Phe159=)
|
rs774325742
|
0.00005
|
NM_001081.4(CUBN):c.*195T>C
|
rs886046859
|
0.00005
|
NM_001081.4(CUBN):c.*470T>C
|
rs886046855
|
0.00005
|
NM_001081.4(CUBN):c.10102A>G (p.Met3368Val)
|
rs767333853
|
0.00005
|
NM_001081.4(CUBN):c.10235C>T (p.Pro3412Leu)
|
rs556303931
|
0.00005
|
NM_001081.4(CUBN):c.113A>G (p.Asn38Ser)
|
rs776471095
|
0.00005
|
NM_001081.4(CUBN):c.1230C>T (p.Ile410=)
|
rs144627803
|
0.00005
|
NM_001081.4(CUBN):c.1558C>T (p.Arg520Trp)
|
rs564637804
|
0.00005
|
NM_001081.4(CUBN):c.2476G>A (p.Val826Ile)
|
rs141874896
|
0.00005
|
NM_001081.4(CUBN):c.4092C>G (p.Ser1364=)
|
rs199763912
|
0.00005
|
NM_001081.4(CUBN):c.4420C>T (p.Pro1474Ser)
|
rs201251467
|
0.00005
|
NM_001081.4(CUBN):c.4797G>T (p.Leu1599Phe)
|
rs201294291
|
0.00005
|
NM_001081.4(CUBN):c.4964C>G (p.Pro1655Arg)
|
rs532968940
|
0.00005
|
NM_001081.4(CUBN):c.5189C>T (p.Thr1730Met)
|
rs201958183
|
0.00005
|
NM_001081.4(CUBN):c.9681T>A (p.Ser3227Arg)
|
rs773439837
|
0.00005
|
NM_001083116.3(PRF1):c.796A>G (p.Ile266Val)
|
rs200824018
|
0.00005
|
NM_001113378.2(FANCI):c.1113-10G>C
|
rs756650711
|
0.00005
|
NM_001113378.2(FANCI):c.1564C>T (p.Arg522Trp)
|
rs371568506
|
0.00005
|
NM_001113378.2(FANCI):c.1727A>G (p.Asn576Ser)
|
rs573652425
|
0.00005
|
NM_001113378.2(FANCI):c.1891-3C>T
|
rs371578898
|
0.00005
|
NM_001113378.2(FANCI):c.3055C>T (p.Arg1019Trp)
|
rs149167939
|
0.00005
|
NM_001113378.2(FANCI):c.3677C>T (p.Thr1226Met)
|
rs367665900
|
0.00005
|
NM_001113378.2(FANCI):c.3907G>A (p.Glu1303Lys)
|
rs544848412
|
0.00005
|
NM_001113378.2(FANCI):c.839A>G (p.Lys280Arg)
|
rs772035961
|
0.00005
|
NM_001114134.2(EPB42):c.1661G>A (p.Arg554Gln)
|
rs150037117
|
0.00005
|
NM_001142864.4(PIEZO1):c.4850C>T (p.Thr1617Met)
|
rs906425217
|
0.00005
|
NM_001174125.2(SLC11A2):c.49+1746C>T
|
rs886763852
|
0.00005
|
NM_001243177.4(ALDOA):c.375C>G (p.Asn125Lys)
|
rs146976414
|
0.00005
|
NM_001355436.2(SPTB):c.3764+8C>T
|
rs200257205
|
0.00005
|
NM_001360016.2(G6PD):c.1493G>C (p.Arg498Thr)
|
rs782422580
|
0.00005
|
NM_001360016.2(G6PD):c.337G>A (p.Asp113Asn)
|
rs5030870
|
0.00005
|
NM_001360016.2(G6PD):c.697G>A (p.Val233Ile)
|
rs781948754
|
0.00005
|
NM_001374504.1(TMPRSS6):c.589+9T>C
|
rs377665035
|
0.00005
|
NM_001376013.1(EPB41):c.2047G>C (p.Ala683Pro)
|
rs199764020
|
0.00005
|
NM_001386140.1(MTTP):c.173G>A (p.Arg58His)
|
rs201464944
|
0.00005
|
NM_001386140.1(MTTP):c.1876C>T (p.Arg626Cys)
|
rs148696330
|
0.00005
|
NM_002049.4(GATA1):c.94G>A (p.Val32Ile)
|
rs782698349
|
0.00005
|
NM_002454.3(MTRR):c.208C>T (p.Arg70Cys)
|
rs374239028
|
0.00005
|
NM_002454.3(MTRR):c.346C>A (p.Gln116Lys)
|
rs202110383
|
0.00005
|
NM_002454.3(MTRR):c.503C>T (p.Pro168Leu)
|
rs757635349
|
0.00005
|
NM_002485.5(NBN):c.1457C>T (p.Ser486Phe)
|
rs572568222
|
0.00005
|
NM_002485.5(NBN):c.52C>A (p.Leu18Ile)
|
rs587781939
|
0.00005
|
NM_002485.5(NBN):c.664T>C (p.Phe222Leu)
|
rs541992192
|
0.00005
|
NM_002948.5(RPL15):c.458A>G (p.Lys153Arg)
|
rs370700905
|
0.00005
|
NM_003126.4(SPTA1):c.5004A>G (p.Thr1668=)
|
rs768234604
|
0.00005
|
NM_003126.4(SPTA1):c.812+7A>T
|
rs186595817
|
0.00005
|
NM_004629.2(FANCG):c.55A>G (p.Lys19Glu)
|
rs186641344
|
0.00005
|
NM_004629.2(FANCG):c.704C>T (p.Ala235Val)
|
rs574975594
|
0.00005
|
NM_004629.2(FANCG):c.769C>T (p.Arg257Cys)
|
rs759314410
|
0.00005
|
NM_005050.4(ABCD4):c.1028+5G>A
|
rs533842238
|
0.00005
|
NM_005050.4(ABCD4):c.364C>T (p.Leu122Phe)
|
rs141808601
|
0.00005
|
NM_005050.4(ABCD4):c.611T>C (p.Leu204Ser)
|
rs538521064
|
0.00005
|
NM_005236.3(ERCC4):c.1001C>T (p.Ser334Leu)
|
rs750883282
|
0.00005
|
NM_005236.3(ERCC4):c.1193G>A (p.Ser398Asn)
|
rs1238124123
|
0.00005
|
NM_005236.3(ERCC4):c.1549G>A (p.Glu517Lys)
|
rs150291286
|
0.00005
|
NM_005236.3(ERCC4):c.2125G>A (p.Val709Met)
|
rs373906926
|
0.00005
|
NM_005236.3(ERCC4):c.2546A>T (p.Gln849Leu)
|
rs750999717
|
0.00005
|
NM_005334.3(HCFC1):c.4687G>A (p.Gly1563Ser)
|
rs782310209
|
0.00005
|
NM_005373.3(MPL):c.173C>T (p.Ala58Val)
|
rs6087
|
0.00005
|
NM_006363.6(SEC23B):c.82C>T (p.Arg28Trp)
|
rs759146033
|
0.00005
|
NM_015506.3(MMACHC):c.329A>G (p.Asn110Ser)
|
rs781133955
|
0.00005
|
NM_018062.4(FANCL):c.1051_1052dup (p.Ser351fs)
|
rs750871999
|
0.00005
|
NM_018062.4(FANCL):c.343A>G (p.Ile115Val)
|
rs149414332
|
0.00005
|
NM_018368.4(LMBRD1):c.416C>T (p.Thr139Met)
|
rs767657325
|
0.00005
|
NM_018368.4(LMBRD1):c.905G>A (p.Arg302His)
|
rs142962811
|
0.00005
|
NM_020937.4(FANCM):c.1091G>C (p.Cys364Ser)
|
rs1257244524
|
0.00005
|
NM_020937.4(FANCM):c.1328T>G (p.Phe443Cys)
|
rs549724218
|
0.00005
|
NM_020937.4(FANCM):c.1550C>T (p.Thr517Met)
|
rs149473953
|
0.00005
|
NM_020937.4(FANCM):c.2426T>G (p.Phe809Cys)
|
rs565347397
|
0.00005
|
NM_020937.4(FANCM):c.317A>G (p.Asn106Ser)
|
rs550700790
|
0.00005
|
NM_020937.4(FANCM):c.3509C>T (p.Thr1170Met)
|
rs151218879
|
0.00005
|
NM_020937.4(FANCM):c.4936G>C (p.Ala1646Pro)
|
rs751104662
|
0.00005
|
NM_021922.3(FANCE):c.298T>A (p.Ser100Thr)
|
rs768911543
|
0.00005
|
NM_021922.3(FANCE):c.397C>T (p.Leu133Phe)
|
rs759124595
|
0.00005
|
NM_021922.3(FANCE):c.656G>T (p.Arg219Ile)
|
rs551170184
|
0.00005
|
NM_021922.3(FANCE):c.856-3C>T
|
rs749111562
|
0.00005
|
NM_022725.4(FANCF):c.*499T>C
|
rs566136504
|
0.00005
|
NM_024675.4(PALB2):c.1337A>T (p.Asp446Val)
|
rs146434474
|
0.00005
|
NM_024675.4(PALB2):c.2234A>G (p.Lys745Arg)
|
rs142343372
|
0.00005
|
NM_024675.4(PALB2):c.2773G>C (p.Val925Leu)
|
rs180177125
|
0.00005
|
NM_024675.4(PALB2):c.3404G>A (p.Gly1135Glu)
|
rs730881894
|
0.00005
|
NM_025215.6(PUS1):c.1068G>A (p.Leu356=)
|
rs201753270
|
0.00005
|
NM_025215.6(PUS1):c.984G>A (p.Ala328=)
|
rs143660941
|
0.00005
|
NM_030943.4(AMN):c.400C>G (p.Arg134Gly)
|
rs758317090
|
0.00005
|
NM_032043.3(BRIP1):c.*2692A>G
|
rs886053204
|
0.00005
|
NM_032043.3(BRIP1):c.*659G>A
|
rs769375960
|
0.00005
|
NM_032043.3(BRIP1):c.1688A>G (p.Asp563Gly)
|
rs577768294
|
0.00005
|
NM_032043.3(BRIP1):c.2863A>C (p.Asn955His)
|
rs587782244
|
0.00005
|
NM_032043.3(BRIP1):c.3237T>G (p.Ile1079Met)
|
rs587781666
|
0.00005
|
NM_032043.3(BRIP1):c.3567T>C (p.Asp1189=)
|
rs764848326
|
0.00005
|
NM_032444.4(SLX4):c.*98A>G
|
rs551538592
|
0.00005
|
NM_032444.4(SLX4):c.-602-6C>G
|
rs886051986
|
0.00005
|
NM_032444.4(SLX4):c.1379G>A (p.Arg460His)
|
rs369994733
|
0.00005
|
NM_032444.4(SLX4):c.145G>A (p.Glu49Lys)
|
rs139757085
|
0.00005
|
NM_032444.4(SLX4):c.1640C>T (p.Thr547Met)
|
rs755156257
|
0.00005
|
NM_032444.4(SLX4):c.1941C>T (p.Pro647=)
|
rs540288743
|
0.00005
|
NM_032444.4(SLX4):c.1945G>A (p.Gly649Ser)
|
rs780269002
|
0.00005
|
NM_032444.4(SLX4):c.1990C>A (p.Pro664Thr)
|
rs759223029
|
0.00005
|
NM_032444.4(SLX4):c.2259C>G (p.His753Gln)
|
rs374294258
|
0.00005
|
NM_032444.4(SLX4):c.2612C>T (p.Ala871Val)
|
rs138259798
|
0.00005
|
NM_032444.4(SLX4):c.2869A>T (p.Ser957Cys)
|
rs776932605
|
0.00005
|
NM_032444.4(SLX4):c.3019C>A (p.Gln1007Lys)
|
rs138798067
|
0.00005
|
NM_032444.4(SLX4):c.3061C>T (p.Arg1021Cys)
|
rs138344471
|
0.00005
|
NM_032444.4(SLX4):c.3136C>T (p.Arg1046Cys)
|
rs140529288
|
0.00005
|
NM_032444.4(SLX4):c.3184C>T (p.Arg1062Cys)
|
rs569194362
|
0.00005
|
NM_032444.4(SLX4):c.3409A>G (p.Arg1137Gly)
|
rs761238767
|
0.00005
|
NM_032444.4(SLX4):c.3701C>T (p.Ala1234Val)
|
rs186036075
|
0.00005
|
NM_032444.4(SLX4):c.3841G>A (p.Gly1281Arg)
|
rs754996241
|
0.00005
|
NM_032444.4(SLX4):c.4046G>C (p.Gly1349Ala)
|
rs151144102
|
0.00005
|
NM_032444.4(SLX4):c.4567G>C (p.Glu1523Gln)
|
rs148542931
|
0.00005
|
NM_032444.4(SLX4):c.461G>A (p.Arg154Gln)
|
rs778404827
|
0.00005
|
NM_032444.4(SLX4):c.4712C>T (p.Thr1571Met)
|
rs765601038
|
0.00005
|
NM_032444.4(SLX4):c.4750C>T (p.Arg1584Cys)
|
rs560866356
|
0.00005
|
NM_032444.4(SLX4):c.4856C>T (p.Pro1619Leu)
|
rs771200478
|
0.00005
|
NM_032444.4(SLX4):c.5188T>C (p.Ser1730Pro)
|
rs199838670
|
0.00005
|
NM_032444.4(SLX4):c.528A>T (p.Lys176Asn)
|
rs778569160
|
0.00005
|
NM_032444.4(SLX4):c.5371C>T (p.Arg1791Cys)
|
rs371875095
|
0.00005
|
NM_032444.4(SLX4):c.5383C>T (p.Arg1795Cys)
|
rs762619200
|
0.00005
|
NM_032444.4(SLX4):c.5476C>T (p.Arg1826Trp)
|
rs199736788
|
0.00005
|
NM_032444.4(SLX4):c.668G>A (p.Arg223His)
|
rs762475814
|
0.00005
|
NM_058216.3(RAD51C):c.331C>T (p.Leu111Phe)
|
rs1402638488
|
0.00005
|
NM_138477.4(CDAN1):c.1839G>A (p.Gly613=)
|
rs148994527
|
0.00005
|
NM_138477.4(CDAN1):c.2406C>T (p.Ile802=)
|
rs145050561
|
0.00005
|
NM_182916.3(TRNT1):c.697A>G (p.Ile233Val)
|
rs377218988
|
0.00005
|
NM_198253.3(TERT):c.1108C>T (p.Pro370Ser)
|
rs143148040
|
0.00005
|
NM_198253.3(TERT):c.2141C>T (p.Thr714Met)
|
rs772441504
|
0.00005
|
NM_198253.3(TERT):c.2287-5G>A
|
rs561426406
|
0.00005
|
NM_000032.5(ALAS2):c.1532G>A (p.Arg511Gln)
|
rs372675935
|
0.00004
|
NM_000032.5(ALAS2):c.416-11T>C
|
rs977637650
|
0.00004
|
NM_000037.4(ANK1):c.1441G>A (p.Gly481Ser)
|
rs201980785
|
0.00004
|
NM_000037.4(ANK1):c.1638C>T (p.Tyr546=)
|
rs771419825
|
0.00004
|
NM_000037.4(ANK1):c.1800+3A>T
|
rs559020131
|
0.00004
|
NM_000037.4(ANK1):c.2601T>C (p.Pro867=)
|
rs540851221
|
0.00004
|
NM_000037.4(ANK1):c.2760C>T (p.Asp920=)
|
rs201312056
|
0.00004
|
NM_000037.4(ANK1):c.2817G>A (p.Pro939=)
|
rs751319722
|
0.00004
|
NM_000037.4(ANK1):c.3002G>A (p.Arg1001His)
|
rs144724635
|
0.00004
|
NM_000037.4(ANK1):c.4472G>A (p.Arg1491His)
|
rs372878614
|
0.00004
|
NM_000037.4(ANK1):c.4976C>T (p.Ala1659Val)
|
rs369796910
|
0.00004
|
NM_000037.4(ANK1):c.5600C>T (p.Ala1867Val)
|
rs767580738
|
0.00004
|
NM_000037.4(ANK1):c.563C>T (p.Thr188Met)
|
rs146346710
|
0.00004
|
NM_000059.4(BRCA2):c.*623C>T
|
rs145550800
|
0.00004
|
NM_000059.4(BRCA2):c.1762A>G (p.Asn588Asp)
|
rs398122731
|
0.00004
|
NM_000059.4(BRCA2):c.267G>A (p.Pro89=)
|
rs587780648
|
0.00004
|
NM_000059.4(BRCA2):c.2987T>G (p.Leu996Arg)
|
rs80358545
|
0.00004
|
NM_000059.4(BRCA2):c.316+13A>G
|
rs773097109
|
0.00004
|
NM_000059.4(BRCA2):c.5319G>A (p.Glu1773=)
|
rs376257217
|
0.00004
|
NM_000059.4(BRCA2):c.5752C>T (p.His1918Tyr)
|
rs80358803
|
0.00004
|
NM_000096.4(CP):c.1408G>T (p.Ala470Ser)
|
rs781567080
|
0.00004
|
NM_000096.4(CP):c.1922C>T (p.Ser641Leu)
|
rs758412535
|
0.00004
|
NM_000096.4(CP):c.2662-14T>C
|
rs189155564
|
0.00004
|
NM_000096.4(CP):c.2827G>A (p.Glu943Lys)
|
rs571448440
|
0.00004
|
NM_000135.4(FANCA):c.*166G>A
|
rs886052479
|
0.00004
|
NM_000135.4(FANCA):c.*42A>T
|
rs529748804
|
0.00004
|
NM_000135.4(FANCA):c.1359+5G>C
|
rs183569738
|
0.00004
|
NM_000135.4(FANCA):c.1424C>T (p.Thr475Met)
|
rs761957732
|
0.00004
|
NM_000135.4(FANCA):c.1510C>T (p.Arg504Cys)
|
rs200291237
|
0.00004
|
NM_000135.4(FANCA):c.1675G>A (p.Glu559Lys)
|
rs201323171
|
0.00004
|
NM_000135.4(FANCA):c.1716-3C>T
|
rs760855591
|
0.00004
|
NM_000135.4(FANCA):c.1777-15C>G
|
rs371919426
|
0.00004
|
NM_000135.4(FANCA):c.1799G>A (p.Arg600His)
|
rs775917892
|
0.00004
|
NM_000135.4(FANCA):c.189+5G>A
|
rs373907502
|
0.00004
|
NM_000135.4(FANCA):c.189+7G>A
|
rs369985388
|
0.00004
|
NM_000135.4(FANCA):c.1899A>C (p.Glu633Asp)
|
rs768520283
|
0.00004
|
NM_000135.4(FANCA):c.1951G>A (p.Gly651Arg)
|
rs140785340
|
0.00004
|
NM_000135.4(FANCA):c.2009G>A (p.Arg670His)
|
rs537923341
|
0.00004
|
NM_000135.4(FANCA):c.2228G>A (p.Gly743Asp)
|
rs763187355
|
0.00004
|
NM_000135.4(FANCA):c.2291G>A (p.Arg764Gln)
|
rs377442601
|
0.00004
|
NM_000135.4(FANCA):c.23A>G (p.Asn8Ser)
|
rs757468756
|
0.00004
|
NM_000135.4(FANCA):c.2507T>A (p.Phe836Tyr)
|
rs142869950
|
0.00004
|
NM_000135.4(FANCA):c.2567T>C (p.Leu856Ser)
|
rs370085403
|
0.00004
|
NM_000135.4(FANCA):c.2669G>A (p.Ser890Asn)
|
rs1055448646
|
0.00004
|
NM_000135.4(FANCA):c.2706C>G (p.Asp902Glu)
|
rs587778315
|
0.00004
|
NM_000135.4(FANCA):c.2982-8C>G
|
rs781331325
|
0.00004
|
NM_000135.4(FANCA):c.3032G>A (p.Arg1011His)
|
rs200022826
|
0.00004
|
NM_000135.4(FANCA):c.3226C>G (p.Leu1076Val)
|
rs368921238
|
0.00004
|
NM_000135.4(FANCA):c.3476G>C (p.Cys1159Ser)
|
rs762837582
|
0.00004
|
NM_000135.4(FANCA):c.3665C>T (p.Pro1222Leu)
|
rs374537936
|
0.00004
|
NM_000135.4(FANCA):c.3997T>C (p.Phe1333Leu)
|
rs576079738
|
0.00004
|
NM_000135.4(FANCA):c.4133C>T (p.Pro1378Leu)
|
rs760814763
|
0.00004
|
NM_000135.4(FANCA):c.445T>G (p.Leu149Val)
|
rs372814783
|
0.00004
|
NM_000135.4(FANCA):c.46G>C (p.Gly16Arg)
|
rs943773590
|
0.00004
|
NM_000135.4(FANCA):c.661A>G (p.Met221Val)
|
rs150924963
|
0.00004
|
NM_000135.4(FANCA):c.793-9T>C
|
rs757500718
|
0.00004
|
NM_000135.4(FANCA):c.944C>G (p.Pro315Arg)
|
rs764121307
|
0.00004
|
NM_000136.3(FANCC):c.*1197A>G
|
rs1026341216
|
0.00004
|
NM_000136.3(FANCC):c.*1675A>G
|
rs183099416
|
0.00004
|
NM_000136.3(FANCC):c.*1901C>T
|
rs756111303
|
0.00004
|
NM_000136.3(FANCC):c.*2308G>A
|
rs1042363957
|
0.00004
|
NM_000136.3(FANCC):c.-246A>G
|
rs1000528763
|
0.00004
|
NM_000136.3(FANCC):c.1073-4G>A
|
rs147695697
|
0.00004
|
NM_000136.3(FANCC):c.1493C>T (p.Ala498Val)
|
rs730881725
|
0.00004
|
NM_000136.3(FANCC):c.1544C>G (p.Thr515Ser)
|
rs201379302
|
0.00004
|
NM_000136.3(FANCC):c.1561G>A (p.Glu521Lys)
|
rs752855423
|
0.00004
|
NM_000136.3(FANCC):c.1604G>A (p.Arg535His)
|
rs587779902
|
0.00004
|
NM_000136.3(FANCC):c.202G>C (p.Gly68Arg)
|
rs777111154
|
0.00004
|
NM_000136.3(FANCC):c.28T>G (p.Cys10Gly)
|
rs147479204
|
0.00004
|
NM_000136.3(FANCC):c.491A>C (p.Asn164Thr)
|
rs950623649
|
0.00004
|
NM_000136.3(FANCC):c.626G>A (p.Arg209His)
|
rs587778327
|
0.00004
|
NM_000136.3(FANCC):c.748C>A (p.Leu250Ile)
|
rs778966663
|
0.00004
|
NM_000136.3(FANCC):c.9A>T (p.Gln3His)
|
rs769585639
|
0.00004
|
NM_000186.4(CFH):c.1998G>T (p.Lys666Asn)
|
rs752859825
|
0.00004
|
NM_000186.4(CFH):c.3028G>A (p.Ala1010Thr)
|
rs11539862
|
0.00004
|
NM_000186.4(CFH):c.481G>T (p.Ala161Ser)
|
rs777300338
|
0.00004
|
NM_000186.4(CFH):c.565G>A (p.Glu189Lys)
|
rs121913054
|
0.00004
|
NM_000186.4(CFH):c.764G>A (p.Gly255Glu)
|
rs771112278
|
0.00004
|
NM_000253.4(MTTP):c.-153C>G
|
rs886058954
|
0.00004
|
NM_000254.3(MTR):c.1542A>T (p.Arg514Ser)
|
rs200479834
|
0.00004
|
NM_000254.3(MTR):c.2171G>C (p.Gly724Ala)
|
rs144374509
|
0.00004
|
NM_000254.3(MTR):c.2315A>G (p.Gln772Arg)
|
rs750824195
|
0.00004
|
NM_000254.3(MTR):c.2326G>A (p.Val776Met)
|
rs542575330
|
0.00004
|
NM_000254.3(MTR):c.2953C>T (p.Arg985Trp)
|
rs201015844
|
0.00004
|
NM_000254.3(MTR):c.3500G>A (p.Arg1167Gln)
|
rs556429682
|
0.00004
|
NM_000254.3(MTR):c.356T>C (p.Met119Thr)
|
rs151161326
|
0.00004
|
NM_000254.3(MTR):c.632A>G (p.Asn211Ser)
|
rs546918671
|
0.00004
|
NM_000254.3(MTR):c.659G>A (p.Arg220Gln)
|
rs780526997
|
0.00004
|
NM_000289.6(PFKM):c.1770C>T (p.Ala590=)
|
rs751097669
|
0.00004
|
NM_000289.6(PFKM):c.59T>C (p.Val20Ala)
|
rs755992543
|
0.00004
|
NM_000289.6(PFKM):c.978G>A (p.Glu326=)
|
rs550083752
|
0.00004
|
NM_000298.6(PKLR):c.*342C>T
|
rs879040355
|
0.00004
|
NM_000298.6(PKLR):c.*346_*348del
|
rs556763356
|
0.00004
|
NM_000342.4(SLC4A1):c.*1596A>C
|
rs886052990
|
0.00004
|
NM_000342.4(SLC4A1):c.*54A>G
|
rs758901858
|
0.00004
|
NM_000342.4(SLC4A1):c.1160G>A (p.Arg387Gln)
|
rs201280873
|
0.00004
|
NM_000342.4(SLC4A1):c.1937G>A (p.Arg646Gln)
|
rs121912757
|
0.00004
|
NM_000342.4(SLC4A1):c.2208C>T (p.Asn736=)
|
rs766674440
|
0.00004
|
NM_000342.4(SLC4A1):c.719C>T (p.Pro240Leu)
|
rs764833865
|
0.00004
|
NM_000355.3(TCN2):c.-191G>A
|
rs886057394
|
0.00004
|
NM_000355.3(TCN2):c.-240G>A
|
rs16988823
|
0.00004
|
NM_000355.4(TCN2):c.1089T>G (p.His363Gln)
|
rs772074405
|
0.00004
|
NM_000355.4(TCN2):c.299C>T (p.Pro100Leu)
|
rs752901101
|
0.00004
|
NM_000355.4(TCN2):c.422C>G (p.Ala141Gly)
|
rs534564986
|
0.00004
|
NM_000355.4(TCN2):c.49C>G (p.Leu17Val)
|
rs759462885
|
0.00004
|
NM_000355.4(TCN2):c.653G>A (p.Arg218Gln)
|
rs759762355
|
0.00004
|
NM_000355.4(TCN2):c.737C>T (p.Thr246Ile)
|
rs147738100
|
0.00004
|
NM_000365.6(TPI1):c.261C>T (p.Cys87=)
|
rs370863694
|
0.00004
|
NM_000373.4(UMPS):c.*2172A>G
|
rs886057877
|
0.00004
|
NM_000373.4(UMPS):c.*3326C>T
|
rs538340122
|
0.00004
|
NM_000373.4(UMPS):c.*3598C>G
|
rs886057892
|
0.00004
|
NM_000373.4(UMPS):c.*4263T>C
|
rs558675693
|
0.00004
|
NM_000373.4(UMPS):c.1052T>C (p.Val351Ala)
|
rs763246334
|
0.00004
|
NM_000373.4(UMPS):c.811G>C (p.Asp271His)
|
rs779077289
|
0.00004
|
NM_000375.3(UROS):c.683C>T (p.Thr228Met)
|
rs121908014
|
0.00004
|
NM_000518.5(HBB):c.85C>T (p.Leu29=)
|
rs33958088
|
0.00004
|
NM_000617.3(SLC11A2):c.1663G>A (p.Ala555Thr)
|
rs550969378
|
0.00004
|
NM_000617.3(SLC11A2):c.523C>T (p.Leu175=)
|
rs373590039
|
0.00004
|
NM_000637.5(GSR):c.859G>A (p.Val287Met)
|
rs750862066
|
0.00004
|
NM_000969.5(RPL5):c.403A>G (p.Ile135Val)
|
rs200075817
|
0.00004
|
NM_001014.5(RPS10):c.400C>T (p.Pro134Ser)
|
rs759213353
|
0.00004
|
NM_001014.5(RPS10):c.479G>A (p.Arg160His)
|
rs139095177
|
0.00004
|
NM_001018113.3(FANCB):c.1118A>G (p.Asp373Gly)
|
rs866138487
|
0.00004
|
NM_001018113.3(FANCB):c.493G>C (p.Gly165Arg)
|
rs146131050
|
0.00004
|
NM_001018115.3(FANCD2):c.1265C>G (p.Ser422Cys)
|
rs765378218
|
0.00004
|
NM_001018115.3(FANCD2):c.1306C>A (p.Leu436Met)
|
rs373898927
|
0.00004
|
NM_001018115.3(FANCD2):c.1363A>G (p.Ser455Gly)
|
rs112902928
|
0.00004
|
NM_001018115.3(FANCD2):c.1718T>C (p.Ile573Thr)
|
rs774801047
|
0.00004
|
NM_001018115.3(FANCD2):c.1802A>G (p.Asn601Ser)
|
rs955122662
|
0.00004
|
NM_001018115.3(FANCD2):c.1810G>A (p.Asp604Asn)
|
rs145170666
|
0.00004
|
NM_001018115.3(FANCD2):c.2309A>G (p.Lys770Arg)
|
rs533245636
|
0.00004
|
NM_001018115.3(FANCD2):c.2422A>G (p.Met808Val)
|
rs375415579
|
0.00004
|
NM_001018115.3(FANCD2):c.256C>T (p.His86Tyr)
|
rs767659342
|
0.00004
|
NM_001018115.3(FANCD2):c.2741C>T (p.Thr914Ile)
|
rs764903036
|
0.00004
|
NM_001018115.3(FANCD2):c.2744C>T (p.Ser915Leu)
|
rs181274599
|
0.00004
|
NM_001018115.3(FANCD2):c.2984G>A (p.Gly995Glu)
|
rs1479681259
|
0.00004
|
NM_001018115.3(FANCD2):c.3106-13T>G
|
rs759732362
|
0.00004
|
NM_001018115.3(FANCD2):c.3334A>G (p.Ser1112Gly)
|
rs139929432
|
0.00004
|
NM_001018115.3(FANCD2):c.3343G>A (p.Val1115Ile)
|
rs200800132
|
0.00004
|
NM_001018115.3(FANCD2):c.3896G>A (p.Arg1299His)
|
rs781701459
|
0.00004
|
NM_001018115.3(FANCD2):c.4052C>T (p.Thr1351Met)
|
rs775898191
|
0.00004
|
NM_001018115.3(FANCD2):c.4186-5T>C
|
rs763801603
|
0.00004
|
NM_001018115.3(FANCD2):c.4281+107T>C
|
rs767893462
|
0.00004
|
NM_001018115.3(FANCD2):c.4281+534G>A
|
rs886057696
|
0.00004
|
NM_001018115.3(FANCD2):c.595C>G (p.Leu199Val)
|
rs756336462
|
0.00004
|
NM_001018115.3(FANCD2):c.776T>C (p.Leu259Pro)
|
rs748724233
|
0.00004
|
NM_001022.4(RPS19):c.10G>T (p.Val4Phe)
|
rs782693679
|
0.00004
|
NM_001029.5(RPS26):c.181+6T>G
|
rs201848035
|
0.00004
|
NM_001040436.3(YARS2):c.*595G>A
|
rs961010458
|
0.00004
|
NM_001040436.3(YARS2):c.1241G>A (p.Arg414His)
|
rs762786998
|
0.00004
|
NM_001063.4(TF):c.334A>G (p.Thr112Ala)
|
rs199624323
|
0.00004
|
NM_001063.4(TF):c.686T>C (p.Ile229Thr)
|
rs764361166
|
0.00004
|
NM_001063.4(TF):c.790C>G (p.Gln264Glu)
|
rs766883577
|
0.00004
|
NM_001081.3(CUBN):c.-50G>A
|
rs370711661
|
0.00004
|
NM_001081.4(CUBN):c.*597A>C
|
rs569828144
|
0.00004
|
NM_001081.4(CUBN):c.10282C>T (p.Pro3428Ser)
|
rs117570588
|
0.00004
|
NM_001081.4(CUBN):c.10327G>A (p.Glu3443Lys)
|
rs776263089
|
0.00004
|
NM_001081.4(CUBN):c.10363-3A>G
|
rs765943248
|
0.00004
|
NM_001081.4(CUBN):c.1719A>T (p.Leu573Phe)
|
rs148313915
|
0.00004
|
NM_001081.4(CUBN):c.2013A>G (p.Pro671=)
|
rs137892259
|
0.00004
|
NM_001081.4(CUBN):c.2203G>A (p.Val735Ile)
|
rs370770104
|
0.00004
|
NM_001081.4(CUBN):c.258G>T (p.Gln86His)
|
rs778278804
|
0.00004
|
NM_001081.4(CUBN):c.3496G>A (p.Gly1166Arg)
|
rs201443885
|
0.00004
|
NM_001081.4(CUBN):c.3692G>A (p.Ser1231Asn)
|
rs150277370
|
0.00004
|
NM_001081.4(CUBN):c.4301A>G (p.His1434Arg)
|
rs147373223
|
0.00004
|
NM_001081.4(CUBN):c.4423A>G (p.Met1475Val)
|
rs1290241240
|
0.00004
|
NM_001081.4(CUBN):c.4621C>T (p.Arg1541Trp)
|
rs146824506
|
0.00004
|
NM_001081.4(CUBN):c.5357A>C (p.Glu1786Ala)
|
rs748558881
|
0.00004
|
NM_001081.4(CUBN):c.535G>A (p.Gly179Arg)
|
rs772400701
|
0.00004
|
NM_001081.4(CUBN):c.5467A>G (p.Ile1823Val)
|
rs946315516
|
0.00004
|
NM_001081.4(CUBN):c.5957A>T (p.Asp1986Val)
|
rs772570411
|
0.00004
|
NM_001081.4(CUBN):c.6214C>T (p.Arg2072Cys)
|
rs149102355
|
0.00004
|
NM_001081.4(CUBN):c.6849G>A (p.Arg2283=)
|
rs373804380
|
0.00004
|
NM_001081.4(CUBN):c.7001-4G>A
|
rs886046871
|
0.00004
|
NM_001081.4(CUBN):c.7741A>C (p.Asn2581His)
|
rs762764264
|
0.00004
|
NM_001081.4(CUBN):c.7976T>C (p.Val2659Ala)
|
rs1007248288
|
0.00004
|
NM_001081.4(CUBN):c.8330A>G (p.Asn2777Ser)
|
rs757561186
|
0.00004
|
NM_001081.4(CUBN):c.8599-8C>T
|
rs199774490
|
0.00004
|
NM_001081.4(CUBN):c.8617G>A (p.Glu2873Lys)
|
rs142519035
|
0.00004
|
NM_001081.4(CUBN):c.8701G>A (p.Val2901Ile)
|
rs201093611
|
0.00004
|
NM_001081.4(CUBN):c.9036G>A (p.Pro3012=)
|
rs576867280
|
0.00004
|
NM_001081.4(CUBN):c.9442C>T (p.Arg3148Trp)
|
rs749089689
|
0.00004
|
NM_001081.4(CUBN):c.9525G>A (p.Ser3175=)
|
rs199499934
|
0.00004
|
NM_001081.4(CUBN):c.9555T>G (p.Cys3185Trp)
|
rs746114034
|
0.00004
|
NM_001081.4(CUBN):c.9714T>C (p.Gly3238=)
|
rs141513734
|
0.00004
|
NM_001081.4(CUBN):c.9878C>T (p.Ser3293Leu)
|
rs566296480
|
0.00004
|
NM_001083116.3(PRF1):c.65C>T (p.Pro22Leu)
|
rs528937278
|
0.00004
|
NM_001083116.3(PRF1):c.718C>T (p.Arg240Cys)
|
rs754850577
|
0.00004
|
NM_001083116.3(PRF1):c.97C>T (p.Arg33Cys)
|
rs777782785
|
0.00004
|
NM_001113378.2(FANCI):c.-56T>C
|
rs374177639
|
0.00004
|
NM_001113378.2(FANCI):c.1512+3A>G
|
rs760846523
|
0.00004
|
NM_001113378.2(FANCI):c.157+7A>G
|
rs145165730
|
0.00004
|
NM_001113378.2(FANCI):c.1735G>A (p.Ala579Thr)
|
rs147963936
|
0.00004
|
NM_001113378.2(FANCI):c.1739A>G (p.Asn580Ser)
|
rs866290050
|
0.00004
|
NM_001113378.2(FANCI):c.1765G>A (p.Asp589Asn)
|
rs374176569
|
0.00004
|
NM_001113378.2(FANCI):c.179C>G (p.Ala60Gly)
|
rs757018470
|
0.00004
|
NM_001113378.2(FANCI):c.1904A>G (p.Tyr635Cys)
|
rs764435343
|
0.00004
|
NM_001113378.2(FANCI):c.2146A>G (p.Ser716Gly)
|
rs376641420
|
0.00004
|
NM_001113378.2(FANCI):c.2183A>G (p.Asp728Gly)
|
rs752114490
|
0.00004
|
NM_001113378.2(FANCI):c.2419A>G (p.Met807Val)
|
rs750348956
|
0.00004
|
NM_001113378.2(FANCI):c.2685G>A (p.Ser895=)
|
rs145665176
|
0.00004
|
NM_001113378.2(FANCI):c.2856T>A (p.Thr952=)
|
rs368915464
|
0.00004
|
NM_001113378.2(FANCI):c.2960C>T (p.Thr987Met)
|
rs138432305
|
0.00004
|
NM_001113378.2(FANCI):c.2992C>T (p.Pro998Ser)
|
rs182154506
|
0.00004
|
NM_001113378.2(FANCI):c.304G>A (p.Gly102Arg)
|
rs1207482417
|
0.00004
|
NM_001113378.2(FANCI):c.3056G>A (p.Arg1019Gln)
|
rs772401747
|
0.00004
|
NM_001113378.2(FANCI):c.3705C>T (p.Ala1235=)
|
rs185771112
|
0.00004
|
NM_001113378.2(FANCI):c.3721-15G>A
|
rs552581027
|
0.00004
|
NM_001113378.2(FANCI):c.3734G>T (p.Arg1245Leu)
|
rs771758909
|
0.00004
|
NM_001113378.2(FANCI):c.3832C>T (p.His1278Tyr)
|
rs776134519
|
0.00004
|
NM_001113378.2(FANCI):c.550G>C (p.Val184Leu)
|
rs571745030
|
0.00004
|
NM_001113378.2(FANCI):c.772A>G (p.Thr258Ala)
|
rs773039171
|
0.00004
|
NM_001113378.2(FANCI):c.89C>T (p.Thr30Ile)
|
rs199713555
|
0.00004
|
NM_001114134.2(EPB42):c.1265G>T (p.Gly422Val)
|
rs538781293
|
0.00004
|
NM_001114134.2(EPB42):c.1288G>A (p.Asp430Asn)
|
rs374417752
|
0.00004
|
NM_001114134.2(EPB42):c.210C>T (p.Ser70=)
|
rs180830933
|
0.00004
|
NM_001114134.2(EPB42):c.712G>C (p.Glu238Gln)
|
rs886051168
|
0.00004
|
NM_001142864.4(PIEZO1):c.2209C>A (p.Leu737Met)
|
rs985377446
|
0.00004
|
NM_001243177.4(ALDOA):c.312G>A (p.Glu104=)
|
rs779556052
|
0.00004
|
NM_001243177.4(ALDOA):c.764G>A (p.Arg255His)
|
rs534264493
|
0.00004
|
NM_001243177.4(ALDOA):c.929C>T (p.Ala310Val)
|
rs201658390
|
0.00004
|
NM_001355436.2(SPTB):c.4837C>T (p.Pro1613Ser)
|
rs375478086
|
0.00004
|
NM_001374504.1(TMPRSS6):c.*35T>C
|
rs199957731
|
0.00004
|
NM_001374504.1(TMPRSS6):c.2250+15C>T
|
rs202222895
|
0.00004
|
NM_001374504.1(TMPRSS6):c.973+11del
|
rs780218999
|
0.00004
|
NM_001376013.1(EPB41):c.1670G>A (p.Arg557Gln)
|
rs201952060
|
0.00004
|
NM_001386140.1(MTTP):c.*826T>C
|
rs960548926
|
0.00004
|
NM_001386140.1(MTTP):c.*98T>A
|
rs886058961
|
0.00004
|
NM_001386140.1(MTTP):c.110C>T (p.Thr37Met)
|
rs371307089
|
0.00004
|
NM_001386140.1(MTTP):c.1618C>T (p.Arg540Cys)
|
rs372321643
|
0.00004
|
NM_001386140.1(MTTP):c.163G>A (p.Val55Met)
|
rs369453726
|
0.00004
|
NM_001386140.1(MTTP):c.1769+3A>G
|
rs375993709
|
0.00004
|
NM_001386140.1(MTTP):c.1888A>G (p.Thr630Ala)
|
rs368679444
|
0.00004
|
NM_001386140.1(MTTP):c.2167G>A (p.Asp723Asn)
|
rs371023325
|
0.00004
|
NM_001386140.1(MTTP):c.2190A>G (p.Gly730=)
|
rs761984561
|
0.00004
|
NM_001386140.1(MTTP):c.34A>G (p.Ile12Val)
|
rs764357849
|
0.00004
|
NM_001386140.1(MTTP):c.501+8C>T
|
rs773537875
|
0.00004
|
NM_001386140.1(MTTP):c.64C>T (p.His22Tyr)
|
rs759200881
|
0.00004
|
NM_001386140.1(MTTP):c.833A>G (p.Lys278Arg)
|
rs886058957
|
0.00004
|
NM_002049.4(GATA1):c.982G>A (p.Glu328Lys)
|
rs1418790540
|
0.00004
|
NM_002454.3(MTRR):c.1018T>G (p.Cys340Gly)
|
rs1183944927
|
0.00004
|
NM_002454.3(MTRR):c.1165G>A (p.Val389Met)
|
rs774333382
|
0.00004
|
NM_002454.3(MTRR):c.209G>A (p.Arg70His)
|
rs777202031
|
0.00004
|
NM_002454.3(MTRR):c.692C>T (p.Ser231Leu)
|
rs201557658
|
0.00004
|
NM_002485.5(NBN):c.1373A>G (p.Tyr458Cys)
|
rs544909538
|
0.00004
|
NM_002485.5(NBN):c.224G>C (p.Gly75Ala)
|
rs587782179
|
0.00004
|
NM_002485.5(NBN):c.506G>A (p.Arg169His)
|
rs776134250
|
0.00004
|
NM_002485.5(NBN):c.595C>T (p.Pro199Ser)
|
rs587780097
|
0.00004
|
NM_002485.5(NBN):c.633T>A (p.Asp211Glu)
|
rs377700348
|
0.00004
|
NM_002485.5(NBN):c.683T>G (p.Ile228Arg)
|
rs777460725
|
0.00004
|
NM_002485.5(NBN):c.721G>A (p.Ala241Thr)
|
rs587781333
|
0.00004
|
NM_002485.5(NBN):c.803C>T (p.Thr268Met)
|
rs535602436
|
0.00004
|
NM_002948.5(RPL15):c.172+5G>A
|
rs369956511
|
0.00004
|
NM_003126.4(SPTA1):c.*319C>T
|
rs561434223
|
0.00004
|
NM_003126.4(SPTA1):c.1175C>T (p.Ala392Val)
|
rs748917509
|
0.00004
|
NM_003126.4(SPTA1):c.1330T>G (p.Ser444Ala)
|
rs202138403
|
0.00004
|
NM_003126.4(SPTA1):c.1691G>A (p.Arg564Gln)
|
rs762400241
|
0.00004
|
NM_003126.4(SPTA1):c.2484C>T (p.Ser828=)
|
rs753103122
|
0.00004
|
NM_003126.4(SPTA1):c.2588-3T>C
|
rs375142282
|
0.00004
|
NM_003126.4(SPTA1):c.3109G>A (p.Asp1037Asn)
|
rs201519091
|
0.00004
|
NM_003126.4(SPTA1):c.326C>T (p.Ser109Phe)
|
rs3737521
|
0.00004
|
NM_003126.4(SPTA1):c.4430G>A (p.Arg1477His)
|
rs370469842
|
0.00004
|
NM_003126.4(SPTA1):c.5358G>A (p.Gly1786=)
|
rs368542665
|
0.00004
|
NM_003126.4(SPTA1):c.854C>T (p.Pro285Leu)
|
rs755259437
|
0.00004
|
NM_004629.2(FANCG):c.1510A>C (p.Lys504Gln)
|
rs1304316655
|
0.00004
|
NM_004629.2(FANCG):c.1521G>A (p.Ala507=)
|
rs373411028
|
0.00004
|
NM_004629.2(FANCG):c.293G>A (p.Arg98Gln)
|
rs372854981
|
0.00004
|
NM_004629.2(FANCG):c.366G>C (p.Trp122Cys)
|
rs546023787
|
0.00004
|
NM_004629.2(FANCG):c.380G>A (p.Arg127His)
|
rs780985218
|
0.00004
|
NM_004629.2(FANCG):c.422G>A (p.Arg141His)
|
rs775719850
|
0.00004
|
NM_004629.2(FANCG):c.464G>A (p.Arg155His)
|
rs201099560
|
0.00004
|
NM_004629.2(FANCG):c.880G>A (p.Gly294Arg)
|
rs886063897
|
0.00004
|
NM_004629.2(FANCG):c.992C>G (p.Pro331Arg)
|
rs765722724
|
0.00004
|
NM_005050.4(ABCD4):c.1237G>A (p.Glu413Lys)
|
rs374984401
|
0.00004
|
NM_005050.4(ABCD4):c.1346C>T (p.Thr449Met)
|
rs969369250
|
0.00004
|
NM_005050.4(ABCD4):c.362G>A (p.Arg121His)
|
rs201744101
|
0.00004
|
NM_005050.4(ABCD4):c.503C>T (p.Pro168Leu)
|
rs747354548
|
0.00004
|
NM_005236.3(ERCC4):c.1415C>T (p.Pro472Leu)
|
rs572439259
|
0.00004
|
NM_005236.3(ERCC4):c.1648C>T (p.Pro550Ser)
|
rs139197943
|
0.00004
|
NM_005236.3(ERCC4):c.1746C>G (p.Asp582Glu)
|
rs775278986
|
0.00004
|
NM_005236.3(ERCC4):c.1917C>A (p.Ser639Arg)
|
rs377213481
|
0.00004
|
NM_005236.3(ERCC4):c.2009G>A (p.Arg670Gln)
|
rs56129764
|
0.00004
|
NM_005236.3(ERCC4):c.2016C>T (p.Ala672=)
|
rs775414253
|
0.00004
|
NM_005236.3(ERCC4):c.2156C>A (p.Thr719Asn)
|
rs779096061
|
0.00004
|
NM_005236.3(ERCC4):c.2219G>A (p.Arg740His)
|
rs758565772
|
0.00004
|
NM_005236.3(ERCC4):c.2423C>G (p.Ala808Gly)
|
rs746576915
|
0.00004
|
NM_005236.3(ERCC4):c.37G>A (p.Ala13Thr)
|
rs374243778
|
0.00004
|
NM_005236.3(ERCC4):c.799C>T (p.Arg267Cys)
|
rs373570729
|
0.00004
|
NM_005236.3(ERCC4):c.8C>T (p.Ser3Leu)
|
rs148904556
|
0.00004
|
NM_005236.3(ERCC4):c.991T>A (p.Ser331Thr)
|
rs762052950
|
0.00004
|
NM_005334.3(HCFC1):c.3730C>T (p.Arg1244Cys)
|
rs782155408
|
0.00004
|
NM_005334.3(HCFC1):c.4574C>T (p.Thr1525Ile)
|
rs782370174
|
0.00004
|
NM_005431.2(XRCC2):c.271C>T (p.Arg91Trp)
|
rs730882043
|
0.00004
|
NM_006296.7(VRK2):c.1303G>A (p.Asp435Asn)
|
rs201610023
|
0.00004
|
NM_006363.6(SEC23B):c.53G>A (p.Arg18His)
|
rs905074313
|
0.00004
|
NM_006363.6(SEC23B):c.916G>A (p.Asp306Asn)
|
rs763130110
|
0.00004
|
NM_006516.4(SLC2A1):c.1396G>A (p.Gly466Ser)
|
rs138139624
|
0.00004
|
NM_007294.4(BRCA1):c.3758C>G (p.Ser1253Cys)
|
rs397509100
|
0.00004
|
NM_007294.4(BRCA1):c.446A>C (p.Glu149Ala)
|
rs397507233
|
0.00004
|
NM_015506.3(MMACHC):c.296T>C (p.Ile99Thr)
|
rs370229341
|
0.00004
|
NM_015506.3(MMACHC):c.733T>C (p.Ser245Pro)
|
rs779575471
|
0.00004
|
NM_015506.3(MMACHC):c.88T>C (p.Trp30Arg)
|
rs745419717
|
0.00004
|
NM_015702.3(MMADHC):c.696+13C>A
|
rs199528296
|
0.00004
|
NM_017875.4(SLC25A38):c.*370C>T
|
rs886058472
|
0.00004
|
NM_018062.4(FANCL):c.1050G>T (p.Gln350His)
|
rs760542163
|
0.00004
|
NM_018062.4(FANCL):c.1052G>A (p.Ser351Asn)
|
rs145260146
|
0.00004
|
NM_018062.4(FANCL):c.208G>A (p.Val70Ile)
|
rs758754024
|
0.00004
|
NM_018062.4(FANCL):c.392C>T (p.Thr131Ile)
|
rs371154063
|
0.00004
|
NM_018062.4(FANCL):c.493T>G (p.Tyr165Asp)
|
rs201084086
|
0.00004
|
NM_018062.4(FANCL):c.622G>A (p.Asp208Asn)
|
rs199564543
|
0.00004
|
NM_018368.4(LMBRD1):c.101G>A (p.Arg34His)
|
rs150831620
|
0.00004
|
NM_018368.4(LMBRD1):c.119G>A (p.Arg40Gln)
|
rs777374813
|
0.00004
|
NM_018368.4(LMBRD1):c.1501T>C (p.Phe501Leu)
|
rs776133587
|
0.00004
|
NM_018368.4(LMBRD1):c.1556C>T (p.Ser519Leu)
|
rs373481039
|
0.00004
|
NM_018368.4(LMBRD1):c.694T>A (p.Tyr232Asn)
|
rs370829456
|
0.00004
|
NM_018368.4(LMBRD1):c.73A>G (p.Ile25Val)
|
rs772119224
|
0.00004
|
NM_020937.4(FANCM):c.1192C>T (p.Arg398Trp)
|
rs752364451
|
0.00004
|
NM_020937.4(FANCM):c.1373T>C (p.Ile458Thr)
|
rs201596252
|
0.00004
|
NM_020937.4(FANCM):c.1528G>A (p.Gly510Ser)
|
rs146291619
|
0.00004
|
NM_020937.4(FANCM):c.1960C>T (p.Arg654Trp)
|
rs112784867
|
0.00004
|
NM_020937.4(FANCM):c.2017A>C (p.Ser673Arg)
|
rs756249141
|
0.00004
|
NM_020937.4(FANCM):c.2158C>T (p.Pro720Ser)
|
rs751262177
|
0.00004
|
NM_020937.4(FANCM):c.2311G>A (p.Glu771Lys)
|
rs760204880
|
0.00004
|
NM_020937.4(FANCM):c.232T>C (p.Ser78Pro)
|
rs995677452
|
0.00004
|
NM_020937.4(FANCM):c.3083A>T (p.His1028Leu)
|
rs774142261
|
0.00004
|
NM_020937.4(FANCM):c.3104C>A (p.Thr1035Asn)
|
rs1411559650
|
0.00004
|
NM_020937.4(FANCM):c.3147A>C (p.Leu1049Phe)
|
rs147299864
|
0.00004
|
NM_020937.4(FANCM):c.3433G>A (p.Asp1145Asn)
|
rs753249049
|
0.00004
|
NM_020937.4(FANCM):c.3473C>T (p.Ser1158Phe)
|
rs952413457
|
0.00004
|
NM_020937.4(FANCM):c.3827C>T (p.Ser1276Leu)
|
rs753876341
|
0.00004
|
NM_020937.4(FANCM):c.3938G>C (p.Ser1313Thr)
|
rs771311008
|
0.00004
|
NM_020937.4(FANCM):c.4222+5G>A
|
rs201544504
|
0.00004
|
NM_020937.4(FANCM):c.4406A>G (p.Asp1469Gly)
|
rs368457419
|
0.00004
|
NM_020937.4(FANCM):c.4820G>A (p.Cys1607Tyr)
|
rs769869730
|
0.00004
|
NM_020937.4(FANCM):c.486A>C (p.Gln162His)
|
rs149517732
|
0.00004
|
NM_020937.4(FANCM):c.496G>A (p.Ala166Thr)
|
rs369365858
|
0.00004
|
NM_020937.4(FANCM):c.5117A>C (p.Asn1706Thr)
|
rs767619000
|
0.00004
|
NM_020937.4(FANCM):c.5545C>A (p.Pro1849Thr)
|
rs1359477676
|
0.00004
|
NM_020937.4(FANCM):c.685G>T (p.Val229Leu)
|
rs572322789
|
0.00004
|
NM_020937.4(FANCM):c.875C>T (p.Pro292Leu)
|
rs781381334
|
0.00004
|
NM_021922.3(FANCE):c.1027C>T (p.Arg343Trp)
|
rs567313440
|
0.00004
|
NM_021922.3(FANCE):c.1189C>A (p.Pro397Thr)
|
rs759782690
|
0.00004
|
NM_021922.3(FANCE):c.133G>C (p.Gly45Arg)
|
rs996436646
|
0.00004
|
NM_021922.3(FANCE):c.356A>C (p.Gln119Pro)
|
rs781123077
|
0.00004
|
NM_021922.3(FANCE):c.869G>A (p.Arg290Lys)
|
rs747078723
|
0.00004
|
NM_021922.3(FANCE):c.952G>A (p.Glu318Lys)
|
rs754914337
|
0.00004
|
NM_021922.3(FANCE):c.960T>A (p.Ser320Arg)
|
rs201528578
|
0.00004
|
NM_021922.3(FANCE):c.983G>C (p.Cys328Ser)
|
rs372935921
|
0.00004
|
NM_022725.4(FANCF):c.*1119T>A
|
rs558392453
|
0.00004
|
NM_022725.4(FANCF):c.*412T>A
|
rs1310827545
|
0.00004
|
NM_022725.4(FANCF):c.1048C>T (p.Leu350Phe)
|
rs368170054
|
0.00004
|
NM_022725.4(FANCF):c.446A>G (p.Asn149Ser)
|
rs377309460
|
0.00004
|
NM_022725.4(FANCF):c.559A>G (p.Arg187Gly)
|
rs540547787
|
0.00004
|
NM_022725.4(FANCF):c.796C>T (p.Arg266Cys)
|
rs145666363
|
0.00004
|
NM_024675.4(PALB2):c.1316G>T (p.Gly439Val)
|
rs537258442
|
0.00004
|
NM_024675.4(PALB2):c.1637T>C (p.Val546Ala)
|
rs148647206
|
0.00004
|
NM_024675.4(PALB2):c.1699C>T (p.His567Tyr)
|
rs370422990
|
0.00004
|
NM_024675.4(PALB2):c.2067G>A (p.Ser689=)
|
rs371149159
|
0.00004
|
NM_024675.4(PALB2):c.2557G>A (p.Gly853Ser)
|
rs587782579
|
0.00004
|
NM_024675.4(PALB2):c.2674G>A (p.Glu892Lys)
|
rs45476495
|
0.00004
|
NM_024675.4(PALB2):c.3247G>A (p.Glu1083Lys)
|
rs747785029
|
0.00004
|
NM_024675.4(PALB2):c.829G>A (p.Asp277Asn)
|
rs778309339
|
0.00004
|
NM_025215.6(PUS1):c.-287G>C
|
rs886049088
|
0.00004
|
NM_025215.6(PUS1):c.1134C>T (p.Ile378=)
|
rs570364615
|
0.00004
|
NM_025215.6(PUS1):c.426C>T (p.Cys142=)
|
rs554459931
|
0.00004
|
NM_025215.6(PUS1):c.643C>T (p.Arg215Trp)
|
rs776342428
|
0.00004
|
NM_030943.4(AMN):c.1141C>T (p.Pro381Ser)
|
rs1345352857
|
0.00004
|
NM_030943.4(AMN):c.500C>T (p.Ser167Leu)
|
rs774698023
|
0.00004
|
NM_032043.3(BRIP1):c.*524A>G
|
rs371689236
|
0.00004
|
NM_032043.3(BRIP1):c.-22C>A
|
rs377620948
|
0.00004
|
NM_032043.3(BRIP1):c.1000G>A (p.Ala334Thr)
|
rs535414791
|
0.00004
|
NM_032043.3(BRIP1):c.1090A>T (p.Ile364Phe)
|
rs770306753
|
0.00004
|
NM_032043.3(BRIP1):c.1207C>T (p.Arg403Trp)
|
rs369631413
|
0.00004
|
NM_032043.3(BRIP1):c.1220G>A (p.Ser407Asn)
|
rs759835916
|
0.00004
|
NM_032043.3(BRIP1):c.1655T>C (p.Ile552Thr)
|
rs369340666
|
0.00004
|
NM_032043.3(BRIP1):c.1831G>A (p.Val611Ile)
|
rs777741543
|
0.00004
|
NM_032043.3(BRIP1):c.2189G>A (p.Gly730Glu)
|
rs748616469
|
0.00004
|
NM_032043.3(BRIP1):c.2563C>T (p.Arg855Cys)
|
rs146031731
|
0.00004
|
NM_032043.3(BRIP1):c.2593C>T (p.Arg865Trp)
|
rs578022079
|
0.00004
|
NM_032043.3(BRIP1):c.3104G>A (p.Arg1035His)
|
rs367816363
|
0.00004
|
NM_032043.3(BRIP1):c.3224C>T (p.Ser1075Leu)
|
rs183928474
|
0.00004
|
NM_032043.3(BRIP1):c.3523A>G (p.Thr1175Ala)
|
rs372799558
|
0.00004
|
NM_032043.3(BRIP1):c.380A>G (p.Asp127Gly)
|
rs1170174893
|
0.00004
|
NM_032043.3(BRIP1):c.415T>G (p.Ser139Ala)
|
rs202072866
|
0.00004
|
NM_032043.3(BRIP1):c.590C>T (p.Ser197Phe)
|
rs533184563
|
0.00004
|
NM_032043.3(BRIP1):c.751C>T (p.Arg251Cys)
|
rs752309409
|
0.00004
|
NM_032444.4(SLX4):c.1163+3A>G
|
rs765509115
|
0.00004
|
NM_032444.4(SLX4):c.1216G>C (p.Glu406Gln)
|
rs779596439
|
0.00004
|
NM_032444.4(SLX4):c.1271C>T (p.Ala424Val)
|
rs551823420
|
0.00004
|
NM_032444.4(SLX4):c.1583G>A (p.Ser528Asn)
|
rs752899329
|
0.00004
|
NM_032444.4(SLX4):c.1740C>T (p.Ser580=)
|
rs200354014
|
0.00004
|
NM_032444.4(SLX4):c.1846G>A (p.Val616Met)
|
rs199863797
|
0.00004
|
NM_032444.4(SLX4):c.1873G>A (p.Ala625Thr)
|
rs200755122
|
0.00004
|
NM_032444.4(SLX4):c.1888G>A (p.Gly630Ser)
|
rs376620029
|
0.00004
|
NM_032444.4(SLX4):c.2023G>A (p.Gly675Arg)
|
rs767473953
|
0.00004
|
NM_032444.4(SLX4):c.2125G>A (p.Val709Met)
|
rs151026877
|
0.00004
|
NM_032444.4(SLX4):c.2623G>A (p.Glu875Lys)
|
rs372976873
|
0.00004
|
NM_032444.4(SLX4):c.2864A>G (p.His955Arg)
|
rs143694260
|
0.00004
|
NM_032444.4(SLX4):c.2991G>A (p.Pro997=)
|
rs770736311
|
0.00004
|
NM_032444.4(SLX4):c.2998A>G (p.Ile1000Val)
|
rs772540192
|
0.00004
|
NM_032444.4(SLX4):c.3009G>C (p.Glu1003Asp)
|
rs142047326
|
0.00004
|
NM_032444.4(SLX4):c.3190G>A (p.Gly1064Arg)
|
rs142079276
|
0.00004
|
NM_032444.4(SLX4):c.3235C>T (p.Pro1079Ser)
|
rs373231418
|
0.00004
|
NM_032444.4(SLX4):c.3310C>T (p.Arg1104Trp)
|
rs752187463
|
0.00004
|
NM_032444.4(SLX4):c.3439G>A (p.Glu1147Lys)
|
rs974413437
|
0.00004
|
NM_032444.4(SLX4):c.3622C>G (p.Pro1208Ala)
|
rs752941190
|
0.00004
|
NM_032444.4(SLX4):c.3648G>T (p.Gln1216His)
|
rs139544666
|
0.00004
|
NM_032444.4(SLX4):c.3668C>T (p.Pro1223Leu)
|
rs376133540
|
0.00004
|
NM_032444.4(SLX4):c.3746G>A (p.Ser1249Asn)
|
rs372991604
|
0.00004
|
NM_032444.4(SLX4):c.3781C>T (p.Pro1261Ser)
|
rs141860134
|
0.00004
|
NM_032444.4(SLX4):c.3850G>A (p.Val1284Met)
|
rs373107728
|
0.00004
|
NM_032444.4(SLX4):c.3950C>T (p.Pro1317Leu)
|
rs375172024
|
0.00004
|
NM_032444.4(SLX4):c.4034G>A (p.Arg1345His)
|
rs757202686
|
0.00004
|
NM_032444.4(SLX4):c.4097G>A (p.Arg1366His)
|
rs375108717
|
0.00004
|
NM_032444.4(SLX4):c.4109G>A (p.Ser1370Asn)
|
rs747599109
|
0.00004
|
NM_032444.4(SLX4):c.4133C>T (p.Pro1378Leu)
|
rs371580654
|
0.00004
|
NM_032444.4(SLX4):c.4157A>G (p.Gln1386Arg)
|
rs774060802
|
0.00004
|
NM_032444.4(SLX4):c.4267A>G (p.Ile1423Val)
|
rs953994627
|
0.00004
|
NM_032444.4(SLX4):c.4268T>C (p.Ile1423Thr)
|
rs1056055996
|
0.00004
|
NM_032444.4(SLX4):c.4301C>T (p.Ser1434Leu)
|
rs776332160
|
0.00004
|
NM_032444.4(SLX4):c.4390A>G (p.Ser1464Gly)
|
rs750635051
|
0.00004
|
NM_032444.4(SLX4):c.4394G>A (p.Arg1465His)
|
rs757128699
|
0.00004
|
NM_032444.4(SLX4):c.4429C>T (p.Pro1477Ser)
|
rs912385590
|
0.00004
|
NM_032444.4(SLX4):c.4740-6C>T
|
rs377066518
|
0.00004
|
NM_032444.4(SLX4):c.4765C>T (p.Arg1589Cys)
|
rs181782315
|
0.00004
|
NM_032444.4(SLX4):c.4864C>G (p.Gln1622Glu)
|
rs1009469961
|
0.00004
|
NM_032444.4(SLX4):c.4871C>T (p.Pro1624Leu)
|
rs751763192
|
0.00004
|
NM_032444.4(SLX4):c.489T>G (p.Gly163=)
|
rs201211891
|
0.00004
|
NM_032444.4(SLX4):c.4964G>A (p.Arg1655Lys)
|
rs149726415
|
0.00004
|
NM_032444.4(SLX4):c.499G>A (p.Glu167Lys)
|
rs151018140
|
0.00004
|
NM_032444.4(SLX4):c.5141T>G (p.Leu1714Trp)
|
rs569861974
|
0.00004
|
NM_032444.4(SLX4):c.5177C>T (p.Ala1726Val)
|
rs752633436
|
0.00004
|
NM_032444.4(SLX4):c.5291C>T (p.Pro1764Leu)
|
rs1031274414
|
0.00004
|
NM_032444.4(SLX4):c.5336G>A (p.Arg1779Gln)
|
rs780261532
|
0.00004
|
NM_032444.4(SLX4):c.5372G>A (p.Arg1791His)
|
rs560381786
|
0.00004
|
NM_032444.4(SLX4):c.5404G>A (p.Asp1802Asn)
|
rs760435859
|
0.00004
|
NM_032444.4(SLX4):c.734C>T (p.Pro245Leu)
|
rs199929086
|
0.00004
|
NM_032444.4(SLX4):c.800C>T (p.Ala267Val)
|
rs752160984
|
0.00004
|
NM_032444.4(SLX4):c.950+3G>T
|
rs748822509
|
0.00004
|
NM_058216.3(RAD51C):c.34C>T (p.Arg12Trp)
|
rs28910276
|
0.00004
|
NM_058216.3(RAD51C):c.52C>T (p.Pro18Ser)
|
rs547142453
|
0.00004
|
NM_058216.3(RAD51C):c.635G>A (p.Arg212His)
|
rs200857129
|
0.00004
|
NM_058216.3(RAD51C):c.721G>A (p.Val241Met)
|
rs184033132
|
0.00004
|
NM_058216.3(RAD51C):c.883G>A (p.Ala295Thr)
|
rs746571208
|
0.00004
|
NM_058216.3(RAD51C):c.956G>A (p.Arg319Gln)
|
rs367846829
|
0.00004
|
NM_080669.6(SLC46A1):c.*1006A>C
|
rs886052749
|
0.00004
|
NM_080669.6(SLC46A1):c.*2493A>G
|
rs886052746
|
0.00004
|
NM_080669.6(SLC46A1):c.*297C>T
|
rs1386304942
|
0.00004
|
NM_080669.6(SLC46A1):c.*351C>T
|
rs1207587504
|
0.00004
|
NM_080669.6(SLC46A1):c.*785T>G
|
rs886052750
|
0.00004
|
NM_080669.6(SLC46A1):c.341G>T (p.Arg114Leu)
|
rs369959215
|
0.00004
|
NM_080669.6(SLC46A1):c.389T>C (p.Val130Ala)
|
rs369191223
|
0.00004
|
NM_080669.6(SLC46A1):c.43C>T (p.Pro15Ser)
|
rs781838735
|
0.00004
|
NM_138477.4(CDAN1):c.*349A>G
|
rs886051156
|
0.00004
|
NM_138477.4(CDAN1):c.2361G>A (p.Ala787=)
|
rs377342875
|
0.00004
|
NM_138477.4(CDAN1):c.3217C>T (p.Pro1073Ser)
|
rs776881666
|
0.00004
|
NM_138477.4(CDAN1):c.324C>T (p.Ser108=)
|
rs945794101
|
0.00004
|
NM_138477.4(CDAN1):c.3383C>T (p.Pro1128Leu)
|
rs752497862
|
0.00004
|
NM_138477.4(CDAN1):c.3559-10T>C
|
rs543020087
|
0.00004
|
NM_138477.4(CDAN1):c.527A>T (p.Glu176Val)
|
rs373153188
|
0.00004
|
NM_174936.4(PCSK9):c.627C>T (p.Pro209=)
|
rs375892354
|
0.00004
|
NM_182916.3(TRNT1):c.502G>T (p.Asp168Tyr)
|
rs746543080
|
0.00004
|
NM_182916.3(TRNT1):c.567G>T (p.Gln189His)
|
rs760683285
|
0.00004
|
NM_182916.3(TRNT1):c.88A>G (p.Met30Val)
|
rs375274931
|
0.00004
|
NM_182916.3(TRNT1):c.900C>A (p.Phe300Leu)
|
rs376431679
|
0.00004
|
NM_198253.3(TERT):c.*230T>C
|
rs751808151
|
0.00004
|
NM_198253.3(TERT):c.2263G>A (p.Val755Ile)
|
rs576633619
|
0.00004
|
NM_198253.3(TERT):c.2580C>T (p.Asp860=)
|
rs751752830
|
0.00004
|
NM_198253.3(TERT):c.3150G>C (p.Lys1050Asn)
|
rs373400596
|
0.00004
|
NM_198253.3(TERT):c.3323C>T (p.Pro1108Leu)
|
rs376255453
|
0.00004
|
NM_198253.3(TERT):c.3329C>T (p.Thr1110Met)
|
rs199422306
|
0.00004
|
NM_206965.2(FTCD):c.1363G>A (p.Ala455Thr)
|
rs376572763
|
0.00004
|
NM_206965.2(FTCD):c.1429C>T (p.Arg477Trp)
|
rs556952105
|
0.00004
|
NM_206965.2(FTCD):c.22G>A (p.Val8Ile)
|
rs368109014
|
0.00004
|
NM_206965.2(FTCD):c.35C>T (p.Ser12Leu)
|
rs201753824
|
0.00004
|
NM_206965.2(FTCD):c.439G>A (p.Glu147Lys)
|
rs754659947
|
0.00004
|
NM_000037.4(ANK1):c.*1031G>A
|
rs867723923
|
0.00003
|
NM_000037.4(ANK1):c.*2172C>A
|
rs886062930
|
0.00003
|
NM_000037.4(ANK1):c.*4C>T
|
rs201561226
|
0.00003
|
NM_000037.4(ANK1):c.*64A>G
|
rs767748017
|
0.00003
|
NM_000037.4(ANK1):c.1056G>C (p.Arg352Ser)
|
rs375151253
|
0.00003
|
NM_000037.4(ANK1):c.1415C>T (p.Thr472Ile)
|
rs150655828
|
0.00003
|
NM_000037.4(ANK1):c.1486C>T (p.Pro496Ser)
|
rs138685137
|
0.00003
|
NM_000037.4(ANK1):c.2835G>A (p.Ala945=)
|
rs771079681
|
0.00003
|
NM_000037.4(ANK1):c.3203G>A (p.Arg1068Gln)
|
rs763961763
|
0.00003
|
NM_000037.4(ANK1):c.3770G>A (p.Arg1257His)
|
rs777970142
|
0.00003
|
NM_000037.4(ANK1):c.4259-13T>C
|
rs772895763
|
0.00003
|
NM_000037.4(ANK1):c.4390+9C>T
|
rs751035092
|
0.00003
|
NM_000037.4(ANK1):c.4541A>C (p.Tyr1514Ser)
|
rs755637526
|
0.00003
|
NM_000037.4(ANK1):c.4636G>A (p.Val1546Ile)
|
rs1060130
|
0.00003
|
NM_000037.4(ANK1):c.5008G>A (p.Val1670Met)
|
rs886062937
|
0.00003
|
NM_000037.4(ANK1):c.617G>A (p.Gly206Glu)
|
rs886062943
|
0.00003
|
NM_000037.4(ANK1):c.639G>A (p.Ala213=)
|
rs766500460
|
0.00003
|
NM_000059.4(BRCA2):c.*172G>A
|
rs574944914
|
0.00003
|
NM_000059.4(BRCA2):c.*345A>G
|
rs886050113
|
0.00003
|
NM_000059.4(BRCA2):c.1012G>A (p.Ala338Thr)
|
rs80358396
|
0.00003
|
NM_000059.4(BRCA2):c.323A>G (p.Asn108Ser)
|
rs80358568
|
0.00003
|
NM_000059.4(BRCA2):c.3581G>A (p.Gly1194Asp)
|
rs28897721
|
0.00003
|
NM_000059.4(BRCA2):c.4357A>G (p.Lys1453Glu)
|
rs397507330
|
0.00003
|
NM_000059.4(BRCA2):c.6929C>A (p.Thr2310Asn)
|
rs276174886
|
0.00003
|
NM_000096.4(CP):c.1414C>A (p.Pro472Thr)
|
rs749923683
|
0.00003
|
NM_000096.4(CP):c.1575A>G (p.Val525=)
|
rs760634973
|
0.00003
|
NM_000096.4(CP):c.260C>T (p.Pro87Leu)
|
rs200823208
|
0.00003
|
NM_000096.4(CP):c.92C>T (p.Thr31Met)
|
rs139978529
|
0.00003
|
NM_000135.4(FANCA):c.*672G>C
|
rs17233819
|
0.00003
|
NM_000135.4(FANCA):c.1046C>T (p.Ala349Val)
|
rs142620413
|
0.00003
|
NM_000135.4(FANCA):c.1209G>A (p.Ala403=)
|
rs773318145
|
0.00003
|
NM_000135.4(FANCA):c.1459C>T (p.Arg487Trp)
|
rs143083764
|
0.00003
|
NM_000135.4(FANCA):c.1543A>C (p.Lys515Gln)
|
rs1355805026
|
0.00003
|
NM_000135.4(FANCA):c.1574T>C (p.Ile525Thr)
|
rs752323052
|
0.00003
|
NM_000135.4(FANCA):c.1738G>A (p.Val580Met)
|
rs769158149
|
0.00003
|
NM_000135.4(FANCA):c.1772G>A (p.Arg591Gln)
|
rs778093769
|
0.00003
|
NM_000135.4(FANCA):c.178C>T (p.Leu60Phe)
|
rs1060501885
|
0.00003
|
NM_000135.4(FANCA):c.1815G>A (p.Glu605=)
|
rs773613283
|
0.00003
|
NM_000135.4(FANCA):c.1964C>G (p.Ala655Gly)
|
rs1306842168
|
0.00003
|
NM_000135.4(FANCA):c.1994C>G (p.Thr665Arg)
|
rs1481598103
|
0.00003
|
NM_000135.4(FANCA):c.2171C>T (p.Thr724Met)
|
rs777032467
|
0.00003
|
NM_000135.4(FANCA):c.2308C>T (p.Arg770Cys)
|
rs1354855145
|
0.00003
|
NM_000135.4(FANCA):c.2447C>T (p.Ala816Val)
|
rs756082739
|
0.00003
|
NM_000135.4(FANCA):c.2944A>G (p.Thr982Ala)
|
rs587778317
|
0.00003
|
NM_000135.4(FANCA):c.2958C>T (p.Asn986=)
|
rs368953287
|
0.00003
|
NM_000135.4(FANCA):c.301C>G (p.Gln101Glu)
|
rs140412064
|
0.00003
|
NM_000135.4(FANCA):c.3184G>A (p.Gly1062Arg)
|
rs142379991
|
0.00003
|
NM_000135.4(FANCA):c.3251G>A (p.Arg1084His)
|
rs752642945
|
0.00003
|
NM_000135.4(FANCA):c.3297G>C (p.Gln1099His)
|
rs779268656
|
0.00003
|
NM_000135.4(FANCA):c.3349-11C>A
|
rs1190325114
|
0.00003
|
NM_000135.4(FANCA):c.3359G>C (p.Cys1120Ser)
|
rs370731587
|
0.00003
|
NM_000135.4(FANCA):c.344G>A (p.Gly115Glu)
|
rs748263867
|
0.00003
|
NM_000135.4(FANCA):c.3610C>T (p.Arg1204Trp)
|
rs759303096
|
0.00003
|
NM_000135.4(FANCA):c.361G>A (p.Val121Met)
|
rs780035612
|
0.00003
|
NM_000135.4(FANCA):c.3627-8T>G
|
rs77877981
|
0.00003
|
NM_000135.4(FANCA):c.3798G>A (p.Met1266Ile)
|
rs1443680543
|
0.00003
|
NM_000135.4(FANCA):c.385G>T (p.Ala129Ser)
|
rs374945563
|
0.00003
|
NM_000135.4(FANCA):c.4000G>A (p.Ala1334Thr)
|
rs925649874
|
0.00003
|
NM_000135.4(FANCA):c.4121G>T (p.Ser1374Ile)
|
rs1254151716
|
0.00003
|
NM_000135.4(FANCA):c.4199G>A (p.Arg1400His)
|
rs149851163
|
0.00003
|
NM_000135.4(FANCA):c.457C>G (p.Gln153Glu)
|
rs774448881
|
0.00003
|
NM_000135.4(FANCA):c.553C>A (p.Leu185Ile)
|
rs587778323
|
0.00003
|
NM_000135.4(FANCA):c.81G>A (p.Ala27=)
|
rs150247726
|
0.00003
|
NM_000136.3(FANCC):c.*1468C>T
|
rs780382671
|
0.00003
|
NM_000136.3(FANCC):c.*2052G>C
|
rs539833295
|
0.00003
|
NM_000136.3(FANCC):c.*2246G>T
|
rs1367873898
|
0.00003
|
NM_000136.3(FANCC):c.*2564C>T
|
rs945363629
|
0.00003
|
NM_000136.3(FANCC):c.1262C>G (p.Ala421Gly)
|
rs863224608
|
0.00003
|
NM_000136.3(FANCC):c.127G>A (p.Glu43Lys)
|
rs374836770
|
0.00003
|
NM_000136.3(FANCC):c.1330-6G>T
|
rs1223668739
|
0.00003
|
NM_000136.3(FANCC):c.1363G>T (p.Ala455Ser)
|
rs730881724
|
0.00003
|
NM_000136.3(FANCC):c.146A>G (p.Tyr49Cys)
|
rs761845692
|
0.00003
|
NM_000136.3(FANCC):c.1595G>A (p.Arg532Lys)
|
rs55939573
|
0.00003
|
NM_000136.3(FANCC):c.1611C>A (p.Gly537=)
|
rs1027358273
|
0.00003
|
NM_000136.3(FANCC):c.1643G>A (p.Arg548Gln)
|
rs730881729
|
0.00003
|
NM_000136.3(FANCC):c.191T>G (p.Phe64Cys)
|
rs375921240
|
0.00003
|
NM_000136.3(FANCC):c.338G>C (p.Trp113Ser)
|
rs1064793405
|
0.00003
|
NM_000136.3(FANCC):c.438T>C (p.Tyr146=)
|
rs765990832
|
0.00003
|
NM_000136.3(FANCC):c.46A>T (p.Met16Leu)
|
rs1390412870
|
0.00003
|
NM_000136.3(FANCC):c.521G>A (p.Arg174Gln)
|
rs755283850
|
0.00003
|
NM_000136.3(FANCC):c.734G>A (p.Arg245Gln)
|
rs889715188
|
0.00003
|
NM_000136.3(FANCC):c.830A>T (p.Lys277Ile)
|
rs1349398241
|
0.00003
|
NM_000136.3(FANCC):c.902C>A (p.Ala301Glu)
|
rs553689536
|
0.00003
|
NM_000136.3(FANCC):c.990C>G (p.Ser330Arg)
|
rs374915316
|
0.00003
|
NM_000175.5(GPI):c.-9A>G
|
rs552574934
|
0.00003
|
NM_000186.4(CFH):c.526T>C (p.Phe176Leu)
|
rs762132970
|
0.00003
|
NM_000186.4(CFH):c.647T>C (p.Ile216Thr)
|
rs183474263
|
0.00003
|
NM_000254.3(MTR):c.1943G>A (p.Arg648His)
|
rs751565093
|
0.00003
|
NM_000254.3(MTR):c.2321C>T (p.Thr774Ile)
|
rs201755946
|
0.00003
|
NM_000254.3(MTR):c.2684A>C (p.Gln895Pro)
|
rs146569329
|
0.00003
|
NM_000254.3(MTR):c.3172C>T (p.Pro1058Ser)
|
rs780045701
|
0.00003
|
NM_000289.6(PFKM):c.*668G>T
|
rs535423254
|
0.00003
|
NM_000289.6(PFKM):c.1303G>A (p.Val435Ile)
|
rs774425888
|
0.00003
|
NM_000289.6(PFKM):c.500A>G (p.Asn167Ser)
|
rs143485300
|
0.00003
|
NM_000298.6(PKLR):c.*1105G>A
|
rs937795186
|
0.00003
|
NM_000298.6(PKLR):c.1250C>T (p.Ala417Val)
|
rs756549612
|
0.00003
|
NM_000298.6(PKLR):c.1303C>T (p.Arg435Trp)
|
rs142238268
|
0.00003
|
NM_000298.6(PKLR):c.790C>T (p.Leu264=)
|
rs199959447
|
0.00003
|
NM_000298.6(PKLR):c.918C>A (p.His306Gln)
|
rs141571402
|
0.00003
|
NM_000342.4(SLC4A1):c.1431+15G>T
|
rs886052999
|
0.00003
|
NM_000342.4(SLC4A1):c.2401A>C (p.Ser801Arg)
|
rs775095594
|
0.00003
|
NM_000342.4(SLC4A1):c.538C>T (p.Arg180Cys)
|
rs749020872
|
0.00003
|
NM_000342.4(SLC4A1):c.713A>T (p.Glu238Val)
|
rs571740084
|
0.00003
|
NM_000342.4(SLC4A1):c.877-3dup
|
rs747181893
|
0.00003
|
NM_000355.4(TCN2):c.1058C>G (p.Ser353Cys)
|
rs539987014
|
0.00003
|
NM_000355.4(TCN2):c.1063G>A (p.Val355Met)
|
rs780429477
|
0.00003
|
NM_000355.4(TCN2):c.323A>T (p.Tyr108Phe)
|
rs781309237
|
0.00003
|
NM_000355.4(TCN2):c.644G>A (p.Arg215Gln)
|
rs760721315
|
0.00003
|
NM_000355.4(TCN2):c.70C>T (p.Pro24Ser)
|
rs755866662
|
0.00003
|
NM_000355.4(TCN2):c.787C>G (p.Leu263Val)
|
rs201848801
|
0.00003
|
NM_000355.4(TCN2):c.882C>T (p.Pro294=)
|
rs142689742
|
0.00003
|
NM_000365.6(TPI1):c.*260G>A
|
rs782764628
|
0.00003
|
NM_000365.6(TPI1):c.599C>T (p.Ala200Val)
|
rs139532537
|
0.00003
|
NM_000365.6(TPI1):c.730A>G (p.Ile244Val)
|
rs143000041
|
0.00003
|
NM_000373.4(UMPS):c.*1853G>A
|
rs552936733
|
0.00003
|
NM_000373.4(UMPS):c.*2054A>G
|
rs886057876
|
0.00003
|
NM_000373.4(UMPS):c.*2356T>C
|
rs148772995
|
0.00003
|
NM_000373.4(UMPS):c.*2783C>T
|
rs150877793
|
0.00003
|
NM_000373.4(UMPS):c.*4496G>A
|
rs886057896
|
0.00003
|
NM_000373.4(UMPS):c.*4934A>G
|
rs1274590115
|
0.00003
|
NM_000373.4(UMPS):c.1117T>G (p.Ser373Ala)
|
rs541686805
|
0.00003
|
NM_000384.3(APOB):c.2170G>T (p.Gly724Cys)
|
rs143425834
|
0.00003
|
NM_000384.3(APOB):c.2728G>T (p.Gly910Cys)
|
rs747610107
|
0.00003
|
NM_000384.3(APOB):c.7585C>A (p.Gln2529Lys)
|
rs747140161
|
0.00003
|
NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe)
|
rs137852342
|
0.00003
|
NM_000518.4(HBB):c.404T>C (p.Val135Ala)
|
rs33966761
|
0.00003
|
NM_000518.5(HBB):c.-31C>T
|
rs63750628
|
0.00003
|
NM_000518.5(HBB):c.-75G>C
|
rs63750400
|
0.00003
|
NM_000617.3(SLC11A2):c.*1007A>G
|
rs886049560
|
0.00003
|
NM_000617.3(SLC11A2):c.*1559G>T
|
rs777649881
|
0.00003
|
NM_000617.3(SLC11A2):c.*1902C>G
|
rs886049558
|
0.00003
|
NM_000617.3(SLC11A2):c.1206G>A (p.Leu402=)
|
rs761054843
|
0.00003
|
NM_000617.3(SLC11A2):c.514A>G (p.Ile172Val)
|
rs886049568
|
0.00003
|
NM_000637.5(GSR):c.242G>A (p.Arg81His)
|
rs767823911
|
0.00003
|
NM_000969.5(RPL5):c.269T>C (p.Val90Ala)
|
rs775952185
|
0.00003
|
NM_000969.5(RPL5):c.320G>A (p.Arg107His)
|
rs751845365
|
0.00003
|
NM_000969.5(RPL5):c.517A>G (p.Ile173Val)
|
rs754245145
|
0.00003
|
NM_000969.5(RPL5):c.599T>C (p.Met200Thr)
|
rs773325598
|
0.00003
|
NM_001011.4(RPS7):c.-86C>T
|
rs186304514
|
0.00003
|
NM_001014.5(RPS10):c.89C>T (p.Pro30Leu)
|
rs755445102
|
0.00003
|
NM_001018113.3(FANCB):c.1267T>C (p.Tyr423His)
|
rs776805534
|
0.00003
|
NM_001018113.3(FANCB):c.677T>C (p.Ile226Thr)
|
rs1275915380
|
0.00003
|
NM_001018113.3(FANCB):c.76C>G (p.Gln26Glu)
|
rs1316961996
|
0.00003
|
NM_001018115.3(FANCD2):c.1011C>A (p.Ser337Arg)
|
rs748171507
|
0.00003
|
NM_001018115.3(FANCD2):c.1234A>G (p.Ile412Val)
|
rs776482951
|
0.00003
|
NM_001018115.3(FANCD2):c.1440T>C (p.His480=)
|
rs375412395
|
0.00003
|
NM_001018115.3(FANCD2):c.144T>A (p.Phe48Leu)
|
rs750534583
|
0.00003
|
NM_001018115.3(FANCD2):c.1545+9T>C
|
rs769459614
|
0.00003
|
NM_001018115.3(FANCD2):c.1948-7C>T
|
rs757782326
|
0.00003
|
NM_001018115.3(FANCD2):c.2012T>G (p.Val671Gly)
|
rs373337896
|
0.00003
|
NM_001018115.3(FANCD2):c.2116C>G (p.Gln706Glu)
|
rs147532349
|
0.00003
|
NM_001018115.3(FANCD2):c.2361T>G (p.Phe787Leu)
|
rs765365413
|
0.00003
|
NM_001018115.3(FANCD2):c.2372A>G (p.Asn791Ser)
|
rs758718558
|
0.00003
|
NM_001018115.3(FANCD2):c.2965C>G (p.Pro989Ala)
|
rs200568638
|
0.00003
|
NM_001018115.3(FANCD2):c.3047T>A (p.Val1016Asp)
|
rs767860064
|
0.00003
|
NM_001018115.3(FANCD2):c.3209A>T (p.His1070Leu)
|
rs759516610
|
0.00003
|
NM_001018115.3(FANCD2):c.3419T>G (p.Val1140Gly)
|
rs781064333
|
0.00003
|
NM_001018115.3(FANCD2):c.3524G>A (p.Ser1175Asn)
|
rs151316403
|
0.00003
|
NM_001018115.3(FANCD2):c.3973C>A (p.Leu1325Met)
|
rs555539811
|
0.00003
|
NM_001018115.3(FANCD2):c.4214A>T (p.Gln1405Leu)
|
rs746871581
|
0.00003
|
NM_001018115.3(FANCD2):c.571-3C>T
|
rs191386799
|
0.00003
|
NM_001018115.3(FANCD2):c.865G>A (p.Val289Ile)
|
rs371273577
|
0.00003
|
NM_001081.4(CUBN):c.*15G>A
|
rs751434522
|
0.00003
|
NM_001081.4(CUBN):c.*297C>T
|
rs886046857
|
0.00003
|
NM_001081.4(CUBN):c.*373G>T
|
rs780298022
|
0.00003
|
NM_001081.4(CUBN):c.*669C>T
|
rs992917155
|
0.00003
|
NM_001081.4(CUBN):c.*81C>A
|
rs886046861
|
0.00003
|
NM_001081.4(CUBN):c.10764+1G>A
|
rs374982220
|
0.00003
|
NM_001081.4(CUBN):c.1351G>A (p.Val451Ile)
|
rs746956601
|
0.00003
|
NM_001081.4(CUBN):c.1653C>T (p.Ser551=)
|
rs372499101
|
0.00003
|
NM_001081.4(CUBN):c.2318C>G (p.Thr773Ser)
|
rs200658389
|
0.00003
|
NM_001081.4(CUBN):c.2452G>A (p.Gly818Arg)
|
rs141274853
|
0.00003
|
NM_001081.4(CUBN):c.260A>G (p.Lys87Arg)
|
rs754451499
|
0.00003
|
NM_001081.4(CUBN):c.2863G>A (p.Gly955Ser)
|
rs567450170
|
0.00003
|
NM_001081.4(CUBN):c.3745C>T (p.Arg1249Cys)
|
rs368224687
|
0.00003
|
NM_001081.4(CUBN):c.387+13C>T
|
rs766779196
|
0.00003
|
NM_001081.4(CUBN):c.4721T>C (p.Met1574Thr)
|
rs144132364
|
0.00003
|
NM_001081.4(CUBN):c.4739C>T (p.Thr1580Met)
|
rs550619948
|
0.00003
|
NM_001081.4(CUBN):c.6095G>A (p.Cys2032Tyr)
|
rs201720797
|
0.00003
|
NM_001081.4(CUBN):c.6180G>A (p.Gly2060=)
|
rs534571792
|
0.00003
|
NM_001081.4(CUBN):c.6277G>A (p.Gly2093Ser)
|
rs759351780
|
0.00003
|
NM_001081.4(CUBN):c.6962G>T (p.Ser2321Ile)
|
rs374628341
|
0.00003
|
NM_001081.4(CUBN):c.736G>A (p.Val246Ile)
|
rs760990753
|
0.00003
|
NM_001081.4(CUBN):c.7403A>G (p.Tyr2468Cys)
|
rs757744293
|
0.00003
|
NM_001081.4(CUBN):c.8016C>T (p.Asn2672=)
|
rs151303316
|
0.00003
|
NM_001081.4(CUBN):c.8502G>A (p.Thr2834=)
|
rs749545791
|
0.00003
|
NM_001081.4(CUBN):c.8971A>T (p.Met2991Leu)
|
rs147160034
|
0.00003
|
NM_001081.4(CUBN):c.9166G>A (p.Ala3056Thr)
|
rs569915247
|
0.00003
|
NM_001083116.3(PRF1):c.98G>A (p.Arg33His)
|
rs531407289
|
0.00003
|
NM_001113378.2(FANCI):c.1102G>A (p.Val368Met)
|
rs1060501897
|
0.00003
|
NM_001113378.2(FANCI):c.1398C>T (p.Ile466=)
|
rs201002833
|
0.00003
|
NM_001113378.2(FANCI):c.1418T>G (p.Val473Gly)
|
rs200007225
|
0.00003
|
NM_001113378.2(FANCI):c.1537A>G (p.Met513Val)
|
rs148780626
|
0.00003
|
NM_001113378.2(FANCI):c.1699-11C>T
|
rs753750358
|
0.00003
|
NM_001113378.2(FANCI):c.1743A>C (p.Glu581Asp)
|
rs779310267
|
0.00003
|
NM_001113378.2(FANCI):c.1890+3A>G
|
rs886051510
|
0.00003
|
NM_001113378.2(FANCI):c.196C>T (p.Arg66Cys)
|
rs143105092
|
0.00003
|
NM_001113378.2(FANCI):c.2200A>G (p.Ser734Gly)
|
rs780147810
|
0.00003
|
NM_001113378.2(FANCI):c.2328G>A (p.Met776Ile)
|
rs781175970
|
0.00003
|
NM_001113378.2(FANCI):c.2504G>A (p.Ser835Asn)
|
rs778626493
|
0.00003
|
NM_001113378.2(FANCI):c.2519G>A (p.Arg840His)
|
rs777483611
|
0.00003
|
NM_001113378.2(FANCI):c.2627A>G (p.Asp876Gly)
|
rs545673916
|
0.00003
|
NM_001113378.2(FANCI):c.2781T>G (p.Ile927Met)
|
rs771106622
|
0.00003
|
NM_001113378.2(FANCI):c.284T>A (p.Leu95Gln)
|
rs201553891
|
0.00003
|
NM_001113378.2(FANCI):c.2936G>T (p.Ser979Ile)
|
rs769453869
|
0.00003
|
NM_001113378.2(FANCI):c.3093G>C (p.Leu1031Phe)
|
rs546822799
|
0.00003
|
NM_001113378.2(FANCI):c.3116A>G (p.Tyr1039Cys)
|
rs138702591
|
0.00003
|
NM_001113378.2(FANCI):c.3241G>A (p.Ala1081Thr)
|
rs375746069
|
0.00003
|
NM_001113378.2(FANCI):c.326C>G (p.Ala109Gly)
|
rs772968604
|
0.00003
|
NM_001113378.2(FANCI):c.3271C>G (p.Gln1091Glu)
|
rs578060150
|
0.00003
|
NM_001113378.2(FANCI):c.3537T>C (p.Tyr1179=)
|
rs964069381
|
0.00003
|
NM_001113378.2(FANCI):c.3812C>T (p.Ser1271Phe)
|
rs202066338
|
0.00003
|
NM_001113378.2(FANCI):c.3817-12A>G
|
rs545402956
|
0.00003
|
NM_001113378.2(FANCI):c.3835A>G (p.Met1279Val)
|
rs778056909
|
0.00003
|
NM_001113378.2(FANCI):c.3886A>G (p.Met1296Val)
|
rs765052471
|
0.00003
|
NM_001113378.2(FANCI):c.488C>A (p.Thr163Asn)
|
rs574154974
|
0.00003
|
NM_001113378.2(FANCI):c.601A>G (p.Met201Val)
|
rs774564150
|
0.00003
|
NM_001114134.2(EPB42):c.1173C>T (p.Ala391=)
|
rs779896054
|
0.00003
|
NM_001114134.2(EPB42):c.1964C>T (p.Thr655Met)
|
rs369127523
|
0.00003
|
NM_001142285.2(RPS24):c.526G>A (p.Val176Met)
|
rs558584969
|
0.00003
|
NM_001142864.4(PIEZO1):c.3107G>A (p.Arg1036His)
|
rs769506340
|
0.00003
|
NM_001243177.4(ALDOA):c.1129G>T (p.Ala377Ser)
|
rs148828956
|
0.00003
|
NM_001243177.4(ALDOA):c.219C>T (p.Ile73=)
|
rs773402743
|
0.00003
|
NM_001243177.4(ALDOA):c.226C>T (p.Arg76Cys)
|
rs145582724
|
0.00003
|
NM_001360016.2(G6PD):c.864+5G>A
|
rs372876649
|
0.00003
|
NM_001374504.1(TMPRSS6):c.*303T>G
|
rs886057490
|
0.00003
|
NM_001386140.1(MTTP):c.2320T>G (p.Ser774Ala)
|
rs148362467
|
0.00003
|
NM_001386140.1(MTTP):c.2457T>G (p.Phe819Leu)
|
rs765341695
|
0.00003
|
NM_001386140.1(MTTP):c.430G>C (p.Ala144Pro)
|
rs1249405862
|
0.00003
|
NM_002049.4(GATA1):c.1024G>A (p.Gly342Ser)
|
rs1340713003
|
0.00003
|
NM_002049.4(GATA1):c.950G>A (p.Arg317Gln)
|
rs782236381
|
0.00003
|
NM_002454.3(MTRR):c.1789C>A (p.Leu597Ile)
|
rs755408035
|
0.00003
|
NM_002454.3(MTRR):c.268C>T (p.Arg90Trp)
|
rs773984668
|
0.00003
|
NM_002485.5(NBN):c.2060A>C (p.Lys687Thr)
|
rs186371605
|
0.00003
|
NM_002485.5(NBN):c.2215C>G (p.Leu739Val)
|
rs370058152
|
0.00003
|
NM_002485.5(NBN):c.2226T>A (p.Asp742Glu)
|
rs767523514
|
0.00003
|
NM_002485.5(NBN):c.284A>G (p.Asp95Gly)
|
rs545276922
|
0.00003
|
NM_002485.5(NBN):c.302T>C (p.Val101Ala)
|
rs185493105
|
0.00003
|
NM_002485.5(NBN):c.335C>T (p.Pro112Leu)
|
rs759723870
|
0.00003
|
NM_002485.5(NBN):c.509C>T (p.Pro170Leu)
|
rs587782411
|
0.00003
|
NM_002485.5(NBN):c.613A>G (p.Ile205Val)
|
rs730881845
|
0.00003
|
NM_002485.5(NBN):c.80G>T (p.Gly27Val)
|
rs755171159
|
0.00003
|
NM_002485.5(NBN):c.935T>C (p.Leu312Ser)
|
rs371480039
|
0.00003
|
NM_002693.3(POLG):c.3644-116T>C
|
rs777372106
|
0.00003
|
NM_003126.4(SPTA1):c.1308C>T (p.Leu436=)
|
rs777881486
|
0.00003
|
NM_003126.4(SPTA1):c.1309G>A (p.Val437Met)
|
rs147677656
|
0.00003
|
NM_003126.4(SPTA1):c.1409G>A (p.Arg470His)
|
rs370498187
|
0.00003
|
NM_003126.4(SPTA1):c.1489G>T (p.Ala497Ser)
|
rs200722082
|
0.00003
|
NM_003126.4(SPTA1):c.2971C>T (p.Arg991Cys)
|
rs565611676
|
0.00003
|
NM_003126.4(SPTA1):c.3166C>T (p.Arg1056Cys)
|
rs762361277
|
0.00003
|
NM_003126.4(SPTA1):c.4287G>T (p.Leu1429=)
|
rs886045384
|
0.00003
|
NM_003126.4(SPTA1):c.480C>G (p.Phe160Leu)
|
rs764615925
|
0.00003
|
NM_003126.4(SPTA1):c.521T>C (p.Ile174Thr)
|
rs1221196778
|
0.00003
|
NM_003126.4(SPTA1):c.5270G>A (p.Arg1757His)
|
rs779823270
|
0.00003
|
NM_003126.4(SPTA1):c.6390C>T (p.Thr2130=)
|
rs756418963
|
0.00003
|
NM_003126.4(SPTA1):c.7198G>T (p.Gly2400Cys)
|
rs774112593
|
0.00003
|
NM_004629.2(FANCG):c.1156C>G (p.Pro386Ala)
|
rs375757497
|
0.00003
|
NM_004629.2(FANCG):c.1298G>A (p.Arg433Gln)
|
rs748738986
|
0.00003
|
NM_004629.2(FANCG):c.1441G>C (p.Glu481Gln)
|
rs772460728
|
0.00003
|
NM_004629.2(FANCG):c.1459A>C (p.Thr487Pro)
|
rs1414696119
|
0.00003
|
NM_004629.2(FANCG):c.1718G>C (p.Arg573Thr)
|
rs200466062
|
0.00003
|
NM_004629.2(FANCG):c.1768C>G (p.Pro590Ala)
|
rs541868979
|
0.00003
|
NM_004629.2(FANCG):c.1805C>A (p.Pro602His)
|
rs370950631
|
0.00003
|
NM_004629.2(FANCG):c.181C>T (p.Pro61Ser)
|
rs931163229
|
0.00003
|
NM_004629.2(FANCG):c.398C>T (p.Pro133Leu)
|
rs1270561172
|
0.00003
|
NM_004629.2(FANCG):c.730G>A (p.Val244Met)
|
rs746248064
|
0.00003
|
NM_004629.2(FANCG):c.934G>A (p.Val312Ile)
|
rs530535955
|
0.00003
|
NM_005050.4(ABCD4):c.1172G>A (p.Arg391Gln)
|
rs747987460
|
0.00003
|
NM_005142.3(CBLIF):c.371-15C>T
|
rs759810252
|
0.00003
|
NM_005142.3(CBLIF):c.854A>G (p.Gln285Arg)
|
rs886048402
|
0.00003
|
NM_005236.3(ERCC4):c.109C>T (p.Arg37Cys)
|
rs144602005
|
0.00003
|
NM_005236.3(ERCC4):c.1577C>T (p.Pro526Leu)
|
rs149056863
|
0.00003
|
NM_005236.3(ERCC4):c.2102G>A (p.Arg701His)
|
rs762543560
|
0.00003
|
NM_005236.3(ERCC4):c.2105G>A (p.Arg702Gln)
|
rs144058769
|
0.00003
|
NM_005236.3(ERCC4):c.2295G>T (p.Lys765Asn)
|
rs1567253853
|
0.00003
|
NM_005236.3(ERCC4):c.2477C>T (p.Ala826Val)
|
rs141790888
|
0.00003
|
NM_005236.3(ERCC4):c.2591G>A (p.Arg864His)
|
rs1211543560
|
0.00003
|
NM_005236.3(ERCC4):c.286A>C (p.Ser96Arg)
|
rs775257742
|
0.00003
|
NM_005236.3(ERCC4):c.346G>A (p.Val116Ile)
|
rs763811136
|
0.00003
|
NM_005236.3(ERCC4):c.377A>T (p.Asp126Val)
|
rs941012957
|
0.00003
|
NM_005236.3(ERCC4):c.425C>A (p.Ser142Tyr)
|
rs764093404
|
0.00003
|
NM_005236.3(ERCC4):c.79C>T (p.Leu27Phe)
|
rs587778282
|
0.00003
|
NM_005236.3(ERCC4):c.809T>C (p.Leu270Pro)
|
rs1457864707
|
0.00003
|
NM_005236.3(ERCC4):c.934T>G (p.Ser312Ala)
|
rs200596978
|
0.00003
|
NM_005236.3(ERCC4):c.989A>C (p.Asp330Ala)
|
rs777183693
|
0.00003
|
NM_005334.3(HCFC1):c.3604G>A (p.Gly1202Arg)
|
rs1439756712
|
0.00003
|
NM_005334.3(HCFC1):c.3731G>A (p.Arg1244His)
|
rs782013532
|
0.00003
|
NM_005334.3(HCFC1):c.4566G>A (p.Ser1522=)
|
rs371874117
|
0.00003
|
NM_005334.3(HCFC1):c.4733C>T (p.Thr1578Ile)
|
rs1252960661
|
0.00003
|
NM_005373.3(MPL):c.212G>A (p.Arg71Gln)
|
rs368753117
|
0.00003
|
NM_005431.2(XRCC2):c.608C>T (p.Ser203Leu)
|
rs143856570
|
0.00003
|
NM_006363.6(SEC23B):c.2126A>G (p.Asn709Ser)
|
rs778348206
|
0.00003
|
NM_006363.6(SEC23B):c.2227C>T (p.Pro743Ser)
|
rs375734554
|
0.00003
|
NM_006516.4(SLC2A1):c.313G>A (p.Val105Met)
|
rs577667739
|
0.00003
|
NM_006563.5(KLF1):c.*263C>T
|
rs867980189
|
0.00003
|
NM_006947.4(SRP72):c.*1678C>T
|
rs886059503
|
0.00003
|
NM_006947.4(SRP72):c.*1764A>G
|
rs192226722
|
0.00003
|
NM_006996.3(SLC19A2):c.*31A>G
|
rs777625943
|
0.00003
|
NM_006996.3(SLC19A2):c.*658T>C
|
rs1038511649
|
0.00003
|
NM_006996.3(SLC19A2):c.-12C>G
|
rs772886076
|
0.00003
|
NM_006996.3(SLC19A2):c.1436T>C (p.Met479Thr)
|
rs374046494
|
0.00003
|
NM_006996.3(SLC19A2):c.283C>T (p.Leu95Phe)
|
rs759321228
|
0.00003
|
NM_006996.3(SLC19A2):c.487A>T (p.Ser163Cys)
|
rs548333207
|
0.00003
|
NM_006996.3(SLC19A2):c.793C>T (p.Pro265Ser)
|
rs17847481
|
0.00003
|
NM_015506.3(MMACHC):c.566G>A (p.Arg189His)
|
rs761221416
|
0.00003
|
NM_015702.3(MMADHC):c.*267T>C
|
rs546054980
|
0.00003
|
NM_015937.6(PIGT):c.949A>G (p.Ile317Val)
|
rs773624614
|
0.00003
|
NM_017875.4(SLC25A38):c.*395G>A
|
rs576792249
|
0.00003
|
NM_018062.4(FANCL):c.*515A>C
|
rs971589098
|
0.00003
|
NM_018062.4(FANCL):c.1121A>G (p.Lys374Arg)
|
rs745544496
|
0.00003
|
NM_018062.4(FANCL):c.317C>T (p.Pro106Leu)
|
rs771772034
|
0.00003
|
NM_018062.4(FANCL):c.883C>T (p.Arg295Cys)
|
rs376528147
|
0.00003
|
NM_018368.4(LMBRD1):c.1144A>G (p.Met382Val)
|
rs561540830
|
0.00003
|
NM_018368.4(LMBRD1):c.277A>G (p.Ile93Val)
|
rs771282181
|
0.00003
|
NM_018368.4(LMBRD1):c.417G>A (p.Thr139=)
|
rs934259733
|
0.00003
|
NM_018368.4(LMBRD1):c.545A>G (p.Glu182Gly)
|
rs759703455
|
0.00003
|
NM_020937.4(FANCM):c.11G>A (p.Arg4Gln)
|
rs140744346
|
0.00003
|
NM_020937.4(FANCM):c.1667A>G (p.Asp556Gly)
|
rs148810507
|
0.00003
|
NM_020937.4(FANCM):c.1706G>A (p.Arg569His)
|
rs754308821
|
0.00003
|
NM_020937.4(FANCM):c.1756G>C (p.Val586Leu)
|
rs775663650
|
0.00003
|
NM_020937.4(FANCM):c.1880G>C (p.Arg627Pro)
|
rs777379515
|
0.00003
|
NM_020937.4(FANCM):c.2286G>A (p.Met762Ile)
|
rs768567945
|
0.00003
|
NM_020937.4(FANCM):c.2358A>C (p.Gln786His)
|
rs367741599
|
0.00003
|
NM_020937.4(FANCM):c.2497G>A (p.Asp833Asn)
|
rs752560995
|
0.00003
|
NM_020937.4(FANCM):c.2762G>A (p.Cys921Tyr)
|
rs752914487
|
0.00003
|
NM_020937.4(FANCM):c.3232C>T (p.Pro1078Ser)
|
rs189723011
|
0.00003
|
NM_020937.4(FANCM):c.3407T>C (p.Leu1136Ser)
|
rs770989272
|
0.00003
|
NM_020937.4(FANCM):c.3544C>T (p.Leu1182Phe)
|
rs1180319315
|
0.00003
|
NM_020937.4(FANCM):c.4220A>G (p.Glu1407Gly)
|
rs946759727
|
0.00003
|
NM_020937.4(FANCM):c.4318-3T>G
|
rs367696095
|
0.00003
|
NM_020937.4(FANCM):c.4433G>A (p.Cys1478Tyr)
|
rs553521590
|
0.00003
|
NM_020937.4(FANCM):c.4456G>A (p.Val1486Ile)
|
rs192438733
|
0.00003
|
NM_020937.4(FANCM):c.4606A>G (p.Asn1536Asp)
|
rs375640203
|
0.00003
|
NM_020937.4(FANCM):c.461G>C (p.Cys154Ser)
|
rs766755069
|
0.00003
|
NM_020937.4(FANCM):c.4872T>G (p.Cys1624Trp)
|
rs919256712
|
0.00003
|
NM_020937.4(FANCM):c.5603A>G (p.Gln1868Arg)
|
rs764031097
|
0.00003
|
NM_020937.4(FANCM):c.5683T>C (p.Cys1895Arg)
|
rs148945714
|
0.00003
|
NM_020937.4(FANCM):c.56C>T (p.Ser19Leu)
|
rs201383385
|
0.00003
|
NM_020937.4(FANCM):c.6139G>A (p.Asp2047Asn)
|
rs192079020
|
0.00003
|
NM_020937.4(FANCM):c.655G>A (p.Ala219Thr)
|
rs1300272683
|
0.00003
|
NM_020937.4(FANCM):c.68C>A (p.Pro23Gln)
|
rs377031191
|
0.00003
|
NM_020937.4(FANCM):c.808C>T (p.Arg270Cys)
|
rs751006401
|
0.00003
|
NM_020937.4(FANCM):c.950A>G (p.Gln317Arg)
|
rs375644492
|
0.00003
|
NM_021922.3(FANCE):c.-132A>G
|
rs886061325
|
0.00003
|
NM_021922.3(FANCE):c.1196G>A (p.Cys399Tyr)
|
rs1365782479
|
0.00003
|
NM_021922.3(FANCE):c.1316G>T (p.Gly439Val)
|
rs776298967
|
0.00003
|
NM_021922.3(FANCE):c.1349C>T (p.Thr450Ile)
|
rs201970876
|
0.00003
|
NM_021922.3(FANCE):c.199C>A (p.Leu67Met)
|
rs1161408735
|
0.00003
|
NM_021922.3(FANCE):c.248+5G>A
|
rs1027705914
|
0.00003
|
NM_021922.3(FANCE):c.329C>T (p.Pro110Leu)
|
rs371485747
|
0.00003
|
NM_021922.3(FANCE):c.457G>A (p.Ala153Thr)
|
rs151276683
|
0.00003
|
NM_021922.3(FANCE):c.592G>A (p.Gly198Arg)
|
rs747727711
|
0.00003
|
NM_022725.3(FANCF):c.-21A>G
|
rs751857151
|
0.00003
|
NM_022725.4(FANCF):c.*1884T>C
|
rs760103091
|
0.00003
|
NM_022725.4(FANCF):c.*2071A>G
|
rs886048148
|
0.00003
|
NM_022725.4(FANCF):c.*597G>A
|
rs373336301
|
0.00003
|
NM_022725.4(FANCF):c.*7C>G
|
rs770964562
|
0.00003
|
NM_022725.4(FANCF):c.1012G>A (p.Asp338Asn)
|
rs149687560
|
0.00003
|
NM_022725.4(FANCF):c.101C>T (p.Ala34Val)
|
rs780228540
|
0.00003
|
NM_022725.4(FANCF):c.149G>C (p.Arg50Pro)
|
rs371420932
|
0.00003
|
NM_022725.4(FANCF):c.302G>C (p.Arg101Pro)
|
rs1423734778
|
0.00003
|
NM_022725.4(FANCF):c.364C>G (p.Arg122Gly)
|
rs759470099
|
0.00003
|
NM_022725.4(FANCF):c.37G>A (p.Glu13Lys)
|
rs766362210
|
0.00003
|
NM_022725.4(FANCF):c.67G>T (p.Val23Phe)
|
rs777143902
|
0.00003
|
NM_022725.4(FANCF):c.785T>C (p.Leu262Ser)
|
rs368067979
|
0.00003
|
NM_024675.4(PALB2):c.110G>A (p.Arg37His)
|
rs202194596
|
0.00003
|
NM_024675.4(PALB2):c.1128T>G (p.Ser376Arg)
|
rs587780204
|
0.00003
|
NM_024675.4(PALB2):c.1463G>T (p.Ser488Ile)
|
rs767926590
|
0.00003
|
NM_024675.4(PALB2):c.1756G>A (p.Asp586Asn)
|
rs587781954
|
0.00003
|
NM_024675.4(PALB2):c.1846G>C (p.Asp616His)
|
rs786201907
|
0.00003
|
NM_024675.4(PALB2):c.1882_1890del (p.Lys628_Cys630del)
|
rs587778583
|
0.00003
|
NM_024675.4(PALB2):c.2336C>T (p.Ser779Leu)
|
rs764509489
|
0.00003
|
NM_024675.4(PALB2):c.2897T>C (p.Ile966Thr)
|
rs587780214
|
0.00003
|
NM_024675.4(PALB2):c.3146T>C (p.Met1049Thr)
|
rs138273800
|
0.00003
|
NM_024675.4(PALB2):c.3296C>G (p.Thr1099Arg)
|
rs142132127
|
0.00003
|
NM_024675.4(PALB2):c.94C>G (p.Leu32Val)
|
rs151316635
|
0.00003
|
NM_025215.6(PUS1):c.-246G>A
|
rs886049090
|
0.00003
|
NM_025215.6(PUS1):c.-266G>C
|
rs886049089
|
0.00003
|
NM_025215.6(PUS1):c.789C>G (p.Ile263Met)
|
rs755760215
|
0.00003
|
NM_030943.4(AMN):c.448T>C (p.Phe150Leu)
|
rs1039668619
|
0.00003
|
NM_030943.4(AMN):c.811C>T (p.Arg271Trp)
|
rs765147150
|
0.00003
|
NM_032043.2(BRIP1):c.-307G>A
|
rs936277521
|
0.00003
|
NM_032043.3(BRIP1):c.*1393G>T
|
rs754698039
|
0.00003
|
NM_032043.3(BRIP1):c.*2668G>A
|
rs886053206
|
0.00003
|
NM_032043.3(BRIP1):c.*2691C>G
|
rs886053205
|
0.00003
|
NM_032043.3(BRIP1):c.*2999T>C
|
rs1357312726
|
0.00003
|
NM_032043.3(BRIP1):c.*3635T>C
|
rs548812634
|
0.00003
|
NM_032043.3(BRIP1):c.*3924T>G
|
rs886053195
|
0.00003
|
NM_032043.3(BRIP1):c.*900C>A
|
rs886053210
|
0.00003
|
NM_032043.3(BRIP1):c.-229C>G
|
rs886053217
|
0.00003
|
NM_032043.3(BRIP1):c.1153C>A (p.Leu385Met)
|
rs748001678
|
0.00003
|
NM_032043.3(BRIP1):c.1171A>G (p.Ile391Val)
|
rs863224798
|
0.00003
|
NM_032043.3(BRIP1):c.1444A>G (p.Ile482Val)
|
rs142744352
|
0.00003
|
NM_032043.3(BRIP1):c.1499A>G (p.Lys500Arg)
|
rs746329838
|
0.00003
|
NM_032043.3(BRIP1):c.1619A>T (p.Gln540Leu)
|
rs4988349
|
0.00003
|
NM_032043.3(BRIP1):c.1652C>A (p.Ala551Glu)
|
rs375246789
|
0.00003
|
NM_032043.3(BRIP1):c.1660C>G (p.Gln554Glu)
|
rs777217004
|
0.00003
|
NM_032043.3(BRIP1):c.1736G>A (p.Arg579His)
|
rs768224857
|
0.00003
|
NM_032043.3(BRIP1):c.1798T>C (p.Phe600Leu)
|
rs745367580
|
0.00003
|
NM_032043.3(BRIP1):c.1972C>T (p.Arg658Trp)
|
rs786203170
|
0.00003
|
NM_032043.3(BRIP1):c.2047G>C (p.Val683Leu)
|
rs773347072
|
0.00003
|
NM_032043.3(BRIP1):c.2285G>A (p.Arg762His)
|
rs200960251
|
0.00003
|
NM_032043.3(BRIP1):c.2324A>G (p.Asn775Ser)
|
rs571108955
|
0.00003
|
NM_032043.3(BRIP1):c.2469G>T (p.Arg823Ser)
|
rs587780239
|
0.00003
|
NM_032043.3(BRIP1):c.2543G>A (p.Arg848His)
|
rs374334794
|
0.00003
|
NM_032043.3(BRIP1):c.2567A>G (p.Tyr856Cys)
|
rs781556845
|
0.00003
|
NM_032043.3(BRIP1):c.2590G>A (p.Val864Ile)
|
rs149529390
|
0.00003
|
NM_032043.3(BRIP1):c.2662C>T (p.His888Tyr)
|
rs757668121
|
0.00003
|
NM_032043.3(BRIP1):c.2806G>A (p.Glu936Lys)
|
rs754280048
|
0.00003
|
NM_032043.3(BRIP1):c.2830C>G (p.Gln944Glu)
|
rs140233356
|
0.00003
|
NM_032043.3(BRIP1):c.2854A>G (p.Ile952Val)
|
rs200239986
|
0.00003
|
NM_032043.3(BRIP1):c.2858C>T (p.Thr953Ile)
|
rs201672040
|
0.00003
|
NM_032043.3(BRIP1):c.347C>G (p.Ser116Cys)
|
rs748793974
|
0.00003
|
NM_032043.3(BRIP1):c.3571A>G (p.Ile1191Val)
|
rs761405340
|
0.00003
|
NM_032043.3(BRIP1):c.3651G>A (p.Trp1217Ter)
|
rs542698396
|
0.00003
|
NM_032043.3(BRIP1):c.3730_3731del (p.Met1244fs)
|
rs730881646
|
0.00003
|
NM_032043.3(BRIP1):c.728T>C (p.Ile243Thr)
|
rs587781860
|
0.00003
|
NM_032043.3(BRIP1):c.886G>C (p.Glu296Gln)
|
rs876660125
|
0.00003
|
NM_032043.3(BRIP1):c.887A>G (p.Glu296Gly)
|
rs878855158
|
0.00003
|
NM_032444.4(SLX4):c.*652A>G
|
rs546917026
|
0.00003
|
NM_032444.4(SLX4):c.-399C>T
|
rs1177862096
|
0.00003
|
NM_032444.4(SLX4):c.-603+8G>C
|
rs886051987
|
0.00003
|
NM_032444.4(SLX4):c.1077G>T (p.Lys359Asn)
|
rs149470704
|
0.00003
|
NM_032444.4(SLX4):c.1159T>G (p.Phe387Val)
|
rs373810042
|
0.00003
|
NM_032444.4(SLX4):c.1169G>T (p.Ser390Ile)
|
rs775559576
|
0.00003
|
NM_032444.4(SLX4):c.1193G>A (p.Arg398Gln)
|
rs200030312
|
0.00003
|
NM_032444.4(SLX4):c.1222C>T (p.Arg408Trp)
|
rs758029323
|
0.00003
|
NM_032444.4(SLX4):c.1231C>T (p.Arg411Trp)
|
rs761227900
|
0.00003
|
NM_032444.4(SLX4):c.1405C>G (p.Pro469Ala)
|
rs763833617
|
0.00003
|
NM_032444.4(SLX4):c.1520G>A (p.Arg507Lys)
|
rs762550449
|
0.00003
|
NM_032444.4(SLX4):c.1547C>T (p.Ala516Val)
|
rs199683722
|
0.00003
|
NM_032444.4(SLX4):c.1573C>T (p.Arg525Cys)
|
rs143831403
|
0.00003
|
NM_032444.4(SLX4):c.1749G>T (p.Arg583Ser)
|
rs374644679
|
0.00003
|
NM_032444.4(SLX4):c.1756G>A (p.Ala586Thr)
|
rs764210911
|
0.00003
|
NM_032444.4(SLX4):c.1786G>A (p.Gly596Ser)
|
rs144454312
|
0.00003
|
NM_032444.4(SLX4):c.2065C>T (p.His689Tyr)
|
rs138124860
|
0.00003
|
NM_032444.4(SLX4):c.2449G>C (p.Glu817Gln)
|
rs143730668
|
0.00003
|
NM_032444.4(SLX4):c.244A>G (p.Asn82Asp)
|
rs202237877
|
0.00003
|
NM_032444.4(SLX4):c.2990C>T (p.Pro997Leu)
|
rs774243118
|
0.00003
|
NM_032444.4(SLX4):c.3062G>C (p.Arg1021Pro)
|
rs200842643
|
0.00003
|
NM_032444.4(SLX4):c.3089C>T (p.Pro1030Leu)
|
rs774562724
|
0.00003
|
NM_032444.4(SLX4):c.3095C>T (p.Pro1032Leu)
|
rs200924744
|
0.00003
|
NM_032444.4(SLX4):c.3118C>T (p.Pro1040Ser)
|
rs201359490
|
0.00003
|
NM_032444.4(SLX4):c.3374A>G (p.Asp1125Gly)
|
rs186784513
|
0.00003
|
NM_032444.4(SLX4):c.349G>T (p.Ala117Ser)
|
rs775853263
|
0.00003
|
NM_032444.4(SLX4):c.3799C>T (p.Arg1267Cys)
|
rs201422743
|
0.00003
|
NM_032444.4(SLX4):c.4186G>A (p.Gly1396Arg)
|
rs376437029
|
0.00003
|
NM_032444.4(SLX4):c.4313T>C (p.Ile1438Thr)
|
rs779769996
|
0.00003
|
NM_032444.4(SLX4):c.433G>A (p.Ala145Thr)
|
rs780711582
|
0.00003
|
NM_032444.4(SLX4):c.4366C>T (p.Arg1456Cys)
|
rs760286353
|
0.00003
|
NM_032444.4(SLX4):c.4367G>A (p.Arg1456His)
|
rs774858804
|
0.00003
|
NM_032444.4(SLX4):c.4387G>A (p.Asp1463Asn)
|
rs779970904
|
0.00003
|
NM_032444.4(SLX4):c.4402C>T (p.Arg1468Cys)
|
rs760497928
|
0.00003
|
NM_032444.4(SLX4):c.4406C>T (p.Ser1469Phe)
|
rs759045352
|
0.00003
|
NM_032444.4(SLX4):c.4478C>T (p.Ser1493Leu)
|
rs565491187
|
0.00003
|
NM_032444.4(SLX4):c.4508C>T (p.Pro1503Leu)
|
rs370637700
|
0.00003
|
NM_032444.4(SLX4):c.4751G>A (p.Arg1584His)
|
rs199969428
|
0.00003
|
NM_032444.4(SLX4):c.4766G>A (p.Arg1589His)
|
rs746314060
|
0.00003
|
NM_032444.4(SLX4):c.485C>T (p.Thr162Met)
|
rs140876043
|
0.00003
|
NM_032444.4(SLX4):c.4873C>T (p.His1625Tyr)
|
rs145527531
|
0.00003
|
NM_032444.4(SLX4):c.4889C>A (p.Ala1630Asp)
|
rs886051977
|
0.00003
|
NM_032444.4(SLX4):c.5000A>G (p.His1667Arg)
|
rs139304111
|
0.00003
|
NM_032444.4(SLX4):c.5228C>T (p.Ser1743Leu)
|
rs144057906
|
0.00003
|
NM_032444.4(SLX4):c.5263G>T (p.Ala1755Ser)
|
rs780678810
|
0.00003
|
NM_032444.4(SLX4):c.553G>A (p.Asp185Asn)
|
rs201769293
|
0.00003
|
NM_032444.4(SLX4):c.709C>T (p.Arg237Trp)
|
rs199912910
|
0.00003
|
NM_032444.4(SLX4):c.922G>A (p.Val308Met)
|
rs775151113
|
0.00003
|
NM_032444.4(SLX4):c.929G>A (p.Arg310Gln)
|
rs759447034
|
0.00003
|
NM_032444.4(SLX4):c.97G>T (p.Asp33Tyr)
|
rs780117582
|
0.00003
|
NM_033022.4(RPS24):c.122G>A (p.Arg41Gln)
|
rs751857347
|
0.00003
|
NM_058216.3(RAD51C):c.1006A>C (p.Thr336Pro)
|
rs772344354
|
0.00003
|
NM_058216.3(RAD51C):c.1090A>G (p.Ser364Gly)
|
rs587782565
|
0.00003
|
NM_058216.3(RAD51C):c.1102C>T (p.Arg368Trp)
|
rs587780253
|
0.00003
|
NM_058216.3(RAD51C):c.1118A>C (p.Glu373Ala)
|
rs758223998
|
0.00003
|
NM_058216.3(RAD51C):c.121G>C (p.Val41Leu)
|
rs879254131
|
0.00003
|
NM_058216.3(RAD51C):c.189T>G (p.Ile63Met)
|
rs730881923
|
0.00003
|
NM_058216.3(RAD51C):c.287C>G (p.Thr96Ser)
|
rs750381200
|
0.00003
|
NM_058216.3(RAD51C):c.451G>C (p.Val151Leu)
|
rs753912045
|
0.00003
|
NM_058216.3(RAD51C):c.77A>T (p.Lys26Met)
|
rs746026526
|
0.00003
|
NM_058216.3(RAD51C):c.7G>A (p.Gly3Arg)
|
rs376403182
|
0.00003
|
NM_058216.3(RAD51C):c.970G>A (p.Ala324Thr)
|
rs777575172
|
0.00003
|
NM_080669.6(SLC46A1):c.*1336G>A
|
rs1435694827
|
0.00003
|
NM_080669.6(SLC46A1):c.*2273A>G
|
rs542078425
|
0.00003
|
NM_080669.6(SLC46A1):c.1258T>C (p.Phe420Leu)
|
rs1337596788
|
0.00003
|
NM_080669.6(SLC46A1):c.752T>C (p.Ile251Thr)
|
rs782457383
|
0.00003
|
NM_138477.4(CDAN1):c.1826A>G (p.Asn609Ser)
|
rs770414676
|
0.00003
|
NM_138477.4(CDAN1):c.2516C>T (p.Pro839Leu)
|
rs772668700
|
0.00003
|
NM_138477.4(CDAN1):c.3128A>T (p.Asp1043Val)
|
rs80338698
|
0.00003
|
NM_138477.4(CDAN1):c.3142G>A (p.Val1048Ile)
|
rs745816995
|
0.00003
|
NM_138477.4(CDAN1):c.3384G>A (p.Pro1128=)
|
rs141832648
|
0.00003
|
NM_138477.4(CDAN1):c.943+4A>T
|
rs771288663
|
0.00003
|
NM_182916.3(TRNT1):c.463A>G (p.Ile155Val)
|
rs770395497
|
0.00003
|
NM_182916.3(TRNT1):c.514G>A (p.Gly172Ser)
|
rs1459323924
|
0.00003
|
NM_182916.3(TRNT1):c.826G>A (p.Glu276Lys)
|
rs766270526
|
0.00003
|
NM_198253.3(TERT):c.*104C>T
|
rs886059830
|
0.00003
|
NM_198253.3(TERT):c.1393G>C (p.Val465Leu)
|
rs758110675
|
0.00003
|
NM_198253.3(TERT):c.150G>A (p.Leu50=)
|
rs886044153
|
0.00003
|
NM_198253.3(TERT):c.834C>A (p.Pro278=)
|
rs375423906
|
0.00003
|
NM_198253.3(TERT):c.863C>T (p.Ala288Val)
|
rs774657340
|
0.00003
|
NM_198253.3(TERT):c.968C>G (p.Pro323Arg)
|
rs139342764
|
0.00003
|
NM_206965.2(FTCD):c.172G>A (p.Val58Met)
|
rs749659966
|
0.00003
|
NM_206965.2(FTCD):c.250C>T (p.Arg84Cys)
|
rs576603499
|
0.00003
|
NM_206965.2(FTCD):c.425G>A (p.Arg142Gln)
|
rs375990689
|
0.00003
|
NM_206965.2(FTCD):c.49C>A (p.Gln17Lys)
|
rs776696117
|
0.00003
|
NM_206965.2(FTCD):c.61G>A (p.Asp21Asn)
|
rs750462888
|
0.00003
|
NR_001566.3(TERC):n.37A>G
|
rs199422261
|
0.00003
|
NM_000032.5(ALAS2):c.1638C>G (p.Pro546=)
|
rs763266087
|
0.00002
|
NM_000032.5(ALAS2):c.652C>T (p.Arg218Cys)
|
rs754772558
|
0.00002
|
NM_000037.4(ANK1):c.*117G>A
|
rs575900279
|
0.00002
|
NM_000037.4(ANK1):c.*1884G>A
|
rs1476190517
|
0.00002
|
NM_000037.4(ANK1):c.*411C>G
|
rs1361354647
|
0.00002
|
NM_000037.4(ANK1):c.1178C>T (p.Thr393Met)
|
rs563833117
|
0.00002
|
NM_000037.4(ANK1):c.1563C>T (p.Ala521=)
|
rs762615459
|
0.00002
|
NM_000037.4(ANK1):c.1673G>A (p.Arg558Gln)
|
rs577967149
|
0.00002
|
NM_000037.4(ANK1):c.1824C>T (p.Ile608=)
|
rs144904116
|
0.00002
|
NM_000037.4(ANK1):c.3532+10G>T
|
rs766646963
|
0.00002
|
NM_000037.4(ANK1):c.3601G>A (p.Ala1201Thr)
|
rs139513895
|
0.00002
|
NM_000037.4(ANK1):c.4104+12C>T
|
rs768356739
|
0.00002
|
NM_000037.4(ANK1):c.4183+4C>T
|
rs745597765
|
0.00002
|
NM_000037.4(ANK1):c.5119G>A (p.Gly1707Ser)
|
rs746486928
|
0.00002
|
NM_000059.4(BRCA2):c.*545T>C
|
rs536333595
|
0.00002
|
NM_000059.4(BRCA2):c.179A>G (p.Asn60Ser)
|
rs80358463
|
0.00002
|
NM_000059.4(BRCA2):c.3323A>C (p.Lys1108Thr)
|
rs765232270
|
0.00002
|
NM_000059.4(BRCA2):c.3835A>G (p.Asn1279Asp)
|
rs80358626
|
0.00002
|
NM_000059.4(BRCA2):c.5220A>C (p.Leu1740Phe)
|
rs750671399
|
0.00002
|
NM_000059.4(BRCA2):c.6013G>T (p.Asp2005Tyr)
|
rs587781760
|
0.00002
|
NM_000059.4(BRCA2):c.7360A>T (p.Ile2454Phe)
|
rs876660249
|
0.00002
|
NM_000059.4(BRCA2):c.8331+3A>C
|
rs876659382
|
0.00002
|
NM_000096.4(CP):c.164A>G (p.Tyr55Cys)
|
rs756029950
|
0.00002
|
NM_000096.4(CP):c.1907T>C (p.Met636Thr)
|
rs776909143
|
0.00002
|
NM_000096.4(CP):c.199T>C (p.Tyr67His)
|
rs201599525
|
0.00002
|
NM_000096.4(CP):c.2005G>C (p.Gly669Arg)
|
rs555339346
|
0.00002
|
NM_000096.4(CP):c.2207T>A (p.Ile736Asn)
|
rs746839444
|
0.00002
|
NM_000096.4(CP):c.229G>C (p.Asp77His)
|
rs200683433
|
0.00002
|
NM_000096.4(CP):c.2310G>A (p.Lys770=)
|
rs553883583
|
0.00002
|
NM_000096.4(CP):c.236C>T (p.Thr79Ile)
|
rs192728234
|
0.00002
|
NM_000096.4(CP):c.259C>T (p.Pro87Ser)
|
rs749061188
|
0.00002
|
NM_000096.4(CP):c.3185C>A (p.Thr1062Asn)
|
rs749381794
|
0.00002
|
NM_000096.4(CP):c.583G>A (p.Gly195Arg)
|
rs750451693
|
0.00002
|
NM_000096.4(CP):c.652G>A (p.Val218Met)
|
rs768603982
|
0.00002
|
NM_000096.4(CP):c.936C>T (p.Asp312=)
|
rs373073229
|
0.00002
|
NM_000135.4(FANCA):c.*1C>T
|
rs370357192
|
0.00002
|
NM_000135.4(FANCA):c.1004A>C (p.Lys335Thr)
|
rs752532498
|
0.00002
|
NM_000135.4(FANCA):c.1007-3C>T
|
rs557382436
|
0.00002
|
NM_000135.4(FANCA):c.1038G>C (p.Trp346Cys)
|
rs750257902
|
0.00002
|
NM_000135.4(FANCA):c.1048C>T (p.Arg350Trp)
|
rs150290184
|
0.00002
|
NM_000135.4(FANCA):c.1087T>C (p.Phe363Leu)
|
rs531100141
|
0.00002
|
NM_000135.4(FANCA):c.1100G>A (p.Ser367Asn)
|
rs764286584
|
0.00002
|
NM_000135.4(FANCA):c.1114G>T (p.Val372Phe)
|
rs982286482
|
0.00002
|
NM_000135.4(FANCA):c.1219C>G (p.Leu407Val)
|
rs748005916
|
0.00002
|
NM_000135.4(FANCA):c.1226-12G>C
|
rs36011345
|
0.00002
|
NM_000135.4(FANCA):c.1231G>A (p.Val411Met)
|
rs924067529
|
0.00002
|
NM_000135.4(FANCA):c.1237C>T (p.Arg413Cys)
|
rs780135578
|
0.00002
|
NM_000135.4(FANCA):c.1243A>G (p.Met415Val)
|
rs1438001164
|
0.00002
|
NM_000135.4(FANCA):c.1331C>T (p.Ala444Val)
|
rs144234991
|
0.00002
|
NM_000135.4(FANCA):c.1477A>G (p.Ile493Val)
|
rs762828757
|
0.00002
|
NM_000135.4(FANCA):c.1558G>C (p.Asp520His)
|
rs754123446
|
0.00002
|
NM_000135.4(FANCA):c.1566+6C>G
|
rs886939126
|
0.00002
|
NM_000135.4(FANCA):c.1567-11C>A
|
rs34353618
|
0.00002
|
NM_000135.4(FANCA):c.1676A>G (p.Glu559Gly)
|
rs753229112
|
0.00002
|
NM_000135.4(FANCA):c.1702G>A (p.Val568Ile)
|
rs778754162
|
0.00002
|
NM_000135.4(FANCA):c.1717A>G (p.Ile573Val)
|
rs775255736
|
0.00002
|
NM_000135.4(FANCA):c.1781C>A (p.Pro594His)
|
rs780295697
|
0.00002
|
NM_000135.4(FANCA):c.1822A>G (p.Lys608Glu)
|
rs938278864
|
0.00002
|
NM_000135.4(FANCA):c.189+4A>G
|
rs374822922
|
0.00002
|
NM_000135.4(FANCA):c.2008C>T (p.Arg670Cys)
|
rs587778312
|
0.00002
|
NM_000135.4(FANCA):c.2094G>C (p.Glu698Asp)
|
rs201672093
|
0.00002
|
NM_000135.4(FANCA):c.2109G>C (p.Gln703His)
|
rs371458363
|
0.00002
|
NM_000135.4(FANCA):c.2123C>T (p.Thr708Met)
|
rs775960094
|
0.00002
|
NM_000135.4(FANCA):c.2209G>A (p.Ala737Thr)
|
rs539161141
|
0.00002
|
NM_000135.4(FANCA):c.2222+8C>T
|
rs745775730
|
0.00002
|
NM_000135.4(FANCA):c.2383A>G (p.Arg795Gly)
|
rs767455904
|
0.00002
|
NM_000135.4(FANCA):c.2395C>T (p.Pro799Ser)
|
rs762439008
|
0.00002
|
NM_000135.4(FANCA):c.2413C>T (p.Pro805Ser)
|
rs1359572434
|
0.00002
|
NM_000135.4(FANCA):c.2504A>C (p.Lys835Thr)
|
rs749268120
|
0.00002
|
NM_000135.4(FANCA):c.2505-5T>G
|
rs768436599
|
0.00002
|
NM_000135.4(FANCA):c.2530T>C (p.Ser844Pro)
|
rs1017352035
|
0.00002
|
NM_000135.4(FANCA):c.2618T>G (p.Phe873Cys)
|
rs756314107
|
0.00002
|
NM_000135.4(FANCA):c.2622A>G (p.Arg874=)
|
rs1441752228
|
0.00002
|
NM_000135.4(FANCA):c.2667C>T (p.Ala889=)
|
rs771425634
|
0.00002
|
NM_000135.4(FANCA):c.2689C>G (p.His897Asp)
|
rs766402927
|
0.00002
|
NM_000135.4(FANCA):c.2778+1G>A
|
rs140180549
|
0.00002
|
NM_000135.4(FANCA):c.2833G>A (p.Ala945Thr)
|
rs757996952
|
0.00002
|
NM_000135.4(FANCA):c.28G>A (p.Ala10Thr)
|
rs965036018
|
0.00002
|
NM_000135.4(FANCA):c.2923G>A (p.Gly975Arg)
|
rs369565161
|
0.00002
|
NM_000135.4(FANCA):c.2967G>A (p.Met989Ile)
|
rs1178389035
|
0.00002
|
NM_000135.4(FANCA):c.2968G>A (p.Asp990Asn)
|
rs1060501883
|
0.00002
|
NM_000135.4(FANCA):c.2979A>G (p.Gln993=)
|
rs761577170
|
0.00002
|
NM_000135.4(FANCA):c.3000C>G (p.His1000Gln)
|
rs750421982
|
0.00002
|
NM_000135.4(FANCA):c.3115G>A (p.Gly1039Ser)
|
rs773260958
|
0.00002
|
NM_000135.4(FANCA):c.3179C>G (p.Thr1060Arg)
|
rs766358053
|
0.00002
|
NM_000135.4(FANCA):c.3181A>G (p.Ser1061Gly)
|
rs369878171
|
0.00002
|
NM_000135.4(FANCA):c.3197C>T (p.Ala1066Val)
|
rs1419279017
|
0.00002
|
NM_000135.4(FANCA):c.3260C>T (p.Ser1087Leu)
|
rs376089640
|
0.00002
|
NM_000135.4(FANCA):c.3316G>A (p.Glu1106Lys)
|
rs777825824
|
0.00002
|
NM_000135.4(FANCA):c.3361T>C (p.Ser1121Pro)
|
rs977982480
|
0.00002
|
NM_000135.4(FANCA):c.3429G>A (p.Leu1143=)
|
rs146062039
|
0.00002
|
NM_000135.4(FANCA):c.3482C>T (p.Thr1161Met)
|
rs142833057
|
0.00002
|
NM_000135.4(FANCA):c.3575C>T (p.Pro1192Leu)
|
rs780078373
|
0.00002
|
NM_000135.4(FANCA):c.3605A>G (p.Glu1202Gly)
|
rs760330357
|
0.00002
|
NM_000135.4(FANCA):c.3611G>A (p.Arg1204Gln)
|
rs770622823
|
0.00002
|
NM_000135.4(FANCA):c.3688C>G (p.Leu1230Val)
|
rs576401459
|
0.00002
|
NM_000135.4(FANCA):c.3726C>G (p.Ile1242Met)
|
rs972127356
|
0.00002
|
NM_000135.4(FANCA):c.3761A>T (p.Glu1254Val)
|
rs750773229
|
0.00002
|
NM_000135.4(FANCA):c.3764A>C (p.Glu1255Ala)
|
rs373998809
|
0.00002
|
NM_000135.4(FANCA):c.386C>T (p.Ala129Val)
|
rs577625130
|
0.00002
|
NM_000135.4(FANCA):c.4016T>C (p.Leu1339Pro)
|
rs1219627612
|
0.00002
|
NM_000135.4(FANCA):c.401C>T (p.Pro134Leu)
|
rs143570168
|
0.00002
|
NM_000135.4(FANCA):c.4037C>T (p.Ala1346Val)
|
rs201886956
|
0.00002
|
NM_000135.4(FANCA):c.4040C>T (p.Ala1347Val)
|
rs766710139
|
0.00002
|
NM_000135.4(FANCA):c.4117A>G (p.Thr1373Ala)
|
rs753944130
|
0.00002
|
NM_000135.4(FANCA):c.4218A>T (p.Leu1406Phe)
|
rs752245802
|
0.00002
|
NM_000135.4(FANCA):c.4222C>A (p.Pro1408Thr)
|
rs767206558
|
0.00002
|
NM_000135.4(FANCA):c.4241G>A (p.Ser1414Asn)
|
rs772122405
|
0.00002
|
NM_000135.4(FANCA):c.4252G>A (p.Val1418Met)
|
rs145148206
|
0.00002
|
NM_000135.4(FANCA):c.4294G>T (p.Val1432Leu)
|
rs769243354
|
0.00002
|
NM_000135.4(FANCA):c.4331_4332del (p.Pro1444fs)
|
rs1030509993
|
0.00002
|
NM_000135.4(FANCA):c.559G>A (p.Val187Ile)
|
rs761538996
|
0.00002
|
NM_000135.4(FANCA):c.596+4G>A
|
rs780355864
|
0.00002
|
NM_000135.4(FANCA):c.604G>A (p.Asp202Asn)
|
rs779131886
|
0.00002
|
NM_000135.4(FANCA):c.620G>C (p.Gly207Ala)
|
rs1432895332
|
0.00002
|
NM_000135.4(FANCA):c.701T>C (p.Met234Thr)
|
rs145869646
|
0.00002
|
NM_000135.4(FANCA):c.778G>A (p.Glu260Lys)
|
rs201992220
|
0.00002
|
NM_000135.4(FANCA):c.837C>T (p.Asp279=)
|
rs752311383
|
0.00002
|
NM_000135.4(FANCA):c.87G>A (p.Arg29=)
|
rs760787108
|
0.00002
|
NM_000135.4(FANCA):c.88G>A (p.Val30Ile)
|
rs1160471115
|
0.00002
|
NM_000135.4(FANCA):c.910G>C (p.Gly304Arg)
|
rs775212719
|
0.00002
|
NM_000136.3(FANCC):c.*1379C>G
|
rs55901384
|
0.00002
|
NM_000136.3(FANCC):c.*577G>A
|
rs1303539766
|
0.00002
|
NM_000136.3(FANCC):c.1024C>G (p.Pro342Ala)
|
rs863224606
|
0.00002
|
NM_000136.3(FANCC):c.1144C>G (p.Gln382Glu)
|
rs778968824
|
0.00002
|
NM_000136.3(FANCC):c.1159T>C (p.Cys387Arg)
|
rs1064793837
|
0.00002
|
NM_000136.3(FANCC):c.1414G>A (p.Gly472Arg)
|
rs201063698
|
0.00002
|
NM_000136.3(FANCC):c.1575T>G (p.Phe525Leu)
|
rs587779901
|
0.00002
|
NM_000136.3(FANCC):c.1672G>T (p.Val558Phe)
|
rs758866109
|
0.00002
|
NM_000136.3(FANCC):c.233C>A (p.Pro78His)
|
rs138722298
|
0.00002
|
NM_000136.3(FANCC):c.349G>A (p.Val117Ile)
|
rs781167993
|
0.00002
|
NM_000136.3(FANCC):c.383A>G (p.Asp128Gly)
|
rs555753798
|
0.00002
|
NM_000136.3(FANCC):c.457-7T>C
|
rs749994612
|
0.00002
|
NM_000136.3(FANCC):c.473C>T (p.Ala158Val)
|
rs776429990
|
0.00002
|
NM_000136.3(FANCC):c.565C>G (p.Pro189Ala)
|
rs377620735
|
0.00002
|
NM_000136.3(FANCC):c.598G>C (p.Val200Leu)
|
rs772996041
|
0.00002
|
NM_000136.3(FANCC):c.620A>T (p.His207Leu)
|
rs202038890
|
0.00002
|
NM_000136.3(FANCC):c.652G>C (p.Glu218Gln)
|
rs752339229
|
0.00002
|
NM_000136.3(FANCC):c.770T>C (p.Leu257Pro)
|
rs1060502515
|
0.00002
|
NM_000136.3(FANCC):c.790A>G (p.Ser264Gly)
|
rs111657009
|
0.00002
|
NM_000136.3(FANCC):c.826A>G (p.Ile276Val)
|
rs377085045
|
0.00002
|
NM_000186.4(CFH):c.122C>T (p.Thr41Ile)
|
rs1192717326
|
0.00002
|
NM_000186.4(CFH):c.1507C>G (p.Pro503Ala)
|
rs570523689
|
0.00002
|
NM_000186.4(CFH):c.1913A>G (p.Asn638Ser)
|
rs755928805
|
0.00002
|
NM_000186.4(CFH):c.2278A>T (p.Ile760Leu)
|
rs772553879
|
0.00002
|
NM_000186.4(CFH):c.2456A>G (p.Asn819Ser)
|
rs781393769
|
0.00002
|
NM_000186.4(CFH):c.2639C>T (p.Thr880Ile)
|
rs186711438
|
0.00002
|
NM_000186.4(CFH):c.2900G>A (p.Gly967Glu)
|
rs375951438
|
0.00002
|
NM_000186.4(CFH):c.33G>T (p.Met11Ile)
|
rs779670935
|
0.00002
|
NM_000188.3(HK1):c.949G>A (p.Gly317Ser)
|
rs202028638
|
0.00002
|
NM_000254.3(MTR):c.1067T>C (p.Leu356Ser)
|
rs1286773616
|
0.00002
|
NM_000254.3(MTR):c.1129C>T (p.Arg377Cys)
|
rs138876566
|
0.00002
|
NM_000254.3(MTR):c.1559A>G (p.Tyr520Cys)
|
rs1242741686
|
0.00002
|
NM_000254.3(MTR):c.1752C>G (p.Phe584Leu)
|
rs1479249107
|
0.00002
|
NM_000254.3(MTR):c.179C>G (p.Ala60Gly)
|
rs775827591
|
0.00002
|
NM_000254.3(MTR):c.2813G>T (p.Ser938Ile)
|
rs774910076
|
0.00002
|
NM_000254.3(MTR):c.2852-3T>C
|
rs986257997
|
0.00002
|
NM_000254.3(MTR):c.388G>A (p.Glu130Lys)
|
rs755894287
|
0.00002
|
NM_000254.3(MTR):c.821T>C (p.Ile274Thr)
|
rs368380397
|
0.00002
|
NM_000254.3(MTR):c.899C>T (p.Thr300Met)
|
rs201871910
|
0.00002
|
NM_000289.6(PFKM):c.1115A>G (p.Lys372Arg)
|
rs375592512
|
0.00002
|
NM_000289.6(PFKM):c.1191+6G>T
|
rs779486374
|
0.00002
|
NM_000289.6(PFKM):c.140G>A (p.Arg47His)
|
rs748718049
|
0.00002
|
NM_000289.6(PFKM):c.1628A>C (p.Asp543Ala)
|
rs121918194
|
0.00002
|
NM_000289.6(PFKM):c.1663C>T (p.Arg555Cys)
|
rs763839998
|
0.00002
|
NM_000289.6(PFKM):c.1946A>G (p.Lys649Arg)
|
rs199528011
|
0.00002
|
NM_000289.6(PFKM):c.262C>T (p.Arg88Trp)
|
rs757746489
|
0.00002
|
NM_000289.6(PFKM):c.514A>G (p.Thr172Ala)
|
rs139800248
|
0.00002
|
NM_000289.6(PFKM):c.817C>A (p.Pro273Thr)
|
rs576835893
|
0.00002
|
NM_000298.6(PKLR):c.727G>A (p.Gly243Ser)
|
rs745797890
|
0.00002
|
NM_000298.6(PKLR):c.909G>C (p.Pro303=)
|
rs200840994
|
0.00002
|
NM_000342.3(SLC4A1):c.-62G>A
|
rs387906565
|
0.00002
|
NM_000342.4(SLC4A1):c.*1766C>T
|
rs896817763
|
0.00002
|
NM_000342.4(SLC4A1):c.*351G>T
|
rs138242019
|
0.00002
|
NM_000342.4(SLC4A1):c.2002G>A (p.Ala668Thr)
|
rs368353943
|
0.00002
|
NM_000342.4(SLC4A1):c.202G>A (p.Glu68Lys)
|
rs13306787
|
0.00002
|
NM_000342.4(SLC4A1):c.2204C>T (p.Ala735Val)
|
rs748087778
|
0.00002
|
NM_000342.4(SLC4A1):c.2547G>A (p.Val849=)
|
rs753357599
|
0.00002
|
NM_000342.4(SLC4A1):c.464G>A (p.Arg155Gln)
|
rs750879183
|
0.00002
|
NM_000342.4(SLC4A1):c.486-10C>T
|
rs376999476
|
0.00002
|
NM_000342.4(SLC4A1):c.672A>G (p.Ser224=)
|
rs772317162
|
0.00002
|
NM_000342.4(SLC4A1):c.697C>T (p.Arg233Cys)
|
rs779054292
|
0.00002
|
NM_000342.4(SLC4A1):c.826A>G (p.Ile276Val)
|
rs746406399
|
0.00002
|
NM_000355.4(TCN2):c.1022C>T (p.Pro341Leu)
|
rs1017195499
|
0.00002
|
NM_000355.4(TCN2):c.1039A>T (p.Ile347Phe)
|
rs761778896
|
0.00002
|
NM_000355.4(TCN2):c.10C>T (p.Leu4Phe)
|
rs572942248
|
0.00002
|
NM_000355.4(TCN2):c.1139A>C (p.Tyr380Ser)
|
rs746024609
|
0.00002
|
NM_000355.4(TCN2):c.1246G>A (p.Asp416Asn)
|
rs773473997
|
0.00002
|
NM_000355.4(TCN2):c.175C>T (p.Arg59Cys)
|
rs757905563
|
0.00002
|
NM_000355.4(TCN2):c.271G>A (p.Glu91Lys)
|
rs559879608
|
0.00002
|
NM_000355.4(TCN2):c.368A>G (p.Lys123Arg)
|
rs368757546
|
0.00002
|
NM_000355.4(TCN2):c.568C>T (p.His190Tyr)
|
rs757378346
|
0.00002
|
NM_000355.4(TCN2):c.652C>T (p.Arg218Trp)
|
rs754057087
|
0.00002
|
NM_000355.4(TCN2):c.753+5G>A
|
rs749028271
|
0.00002
|
NM_000355.4(TCN2):c.859C>T (p.Leu287Phe)
|
rs369458782
|
0.00002
|
NM_000355.4(TCN2):c.905T>C (p.Ile302Thr)
|
rs754330583
|
0.00002
|
NM_000355.4(TCN2):c.944T>C (p.Met315Thr)
|
rs764172898
|
0.00002
|
NM_000365.6(TPI1):c.543+5C>G
|
rs782153322
|
0.00002
|
NM_000373.4(UMPS):c.*1100C>T
|
rs756033821
|
0.00002
|
NM_000373.4(UMPS):c.*1128G>T
|
rs556684234
|
0.00002
|
NM_000373.4(UMPS):c.*3447T>C
|
rs764528076
|
0.00002
|
NM_000373.4(UMPS):c.*4638G>A
|
rs900083389
|
0.00002
|
NM_000373.4(UMPS):c.*691C>G
|
rs886057872
|
0.00002
|
NM_000373.4(UMPS):c.-19A>G
|
rs747117815
|
0.00002
|
NM_000373.4(UMPS):c.1088G>A (p.Arg363Gln)
|
rs201332523
|
0.00002
|
NM_000373.4(UMPS):c.1158G>A (p.Ala386=)
|
rs749629397
|
0.00002
|
NM_000373.4(UMPS):c.1290A>G (p.Gln430=)
|
rs17843847
|
0.00002
|
NM_000373.4(UMPS):c.385G>T (p.Gly129Ter)
|
rs747405574
|
0.00002
|
NM_000375.3(UROS):c.*24A>G
|
rs760003189
|
0.00002
|
NM_000375.3(UROS):c.-134C>A
|
rs985442867
|
0.00002
|
NM_000375.3(UROS):c.691G>A (p.Ala231Thr)
|
rs780837512
|
0.00002
|
NM_000518.5(HBB):c.151A>T (p.Thr51Ser)
|
rs63750336
|
0.00002
|
NM_000518.5(HBB):c.223G>A (p.Gly75Ser)
|
rs33916541
|
0.00002
|
NM_000518.5(HBB):c.41C>T (p.Ala14Val)
|
rs35203747
|
0.00002
|
NM_000617.3(SLC11A2):c.*1360A>G
|
rs573581505
|
0.00002
|
NM_000617.3(SLC11A2):c.*420G>A
|
rs886049564
|
0.00002
|
NM_000617.3(SLC11A2):c.1049C>T (p.Ser350Leu)
|
rs376365060
|
0.00002
|
NM_000617.3(SLC11A2):c.921C>T (p.Ser307=)
|
rs762100462
|
0.00002
|
NM_000969.5(RPL5):c.103C>T (p.Arg35Cys)
|
rs772575122
|
0.00002
|
NM_000975.5(RPL11):c.-14T>C
|
rs886046307
|
0.00002
|
NM_000975.5(RPL11):c.258T>G (p.Gly86=)
|
rs760885169
|
0.00002
|
NM_000975.5(RPL11):c.452T>C (p.Ile151Thr)
|
rs754966145
|
0.00002
|
NM_001002010.5(NT5C3A):c.577C>A (p.Pro193Thr)
|
rs780736989
|
0.00002
|
NM_001011.4(RPS7):c.35A>G (p.Asn12Ser)
|
rs779623517
|
0.00002
|
NM_001014.5(RPS10):c.*25G>T
|
rs886061321
|
0.00002
|
NM_001018113.3(FANCB):c.1079C>T (p.Thr360Met)
|
rs138192474
|
0.00002
|
NM_001018113.3(FANCB):c.1159C>T (p.Arg387Cys)
|
rs145542355
|
0.00002
|
NM_001018113.3(FANCB):c.1251A>C (p.Lys417Asn)
|
rs1296333300
|
0.00002
|
NM_001018113.3(FANCB):c.1327-11_1327-10insC
|
rs1312589379
|
0.00002
|
NM_001018113.3(FANCB):c.1702C>T (p.His568Tyr)
|
rs763091316
|
0.00002
|
NM_001018113.3(FANCB):c.196A>C (p.Thr66Pro)
|
rs943801800
|
0.00002
|
NM_001018113.3(FANCB):c.199A>G (p.Ile67Val)
|
rs761346761
|
0.00002
|
NM_001018113.3(FANCB):c.2327C>T (p.Ala776Val)
|
rs761492600
|
0.00002
|
NM_001018113.3(FANCB):c.653A>C (p.Glu218Ala)
|
rs781051710
|
0.00002
|
NM_001018113.3(FANCB):c.679T>C (p.Tyr227His)
|
rs1398803909
|
0.00002
|
NM_001018115.3(FANCD2):c.1027A>G (p.Ile343Val)
|
rs993692917
|
0.00002
|
NM_001018115.3(FANCD2):c.1222C>T (p.Arg408Ter)
|
rs771869385
|
0.00002
|
NM_001018115.3(FANCD2):c.1745C>T (p.Ala582Val)
|
rs768105189
|
0.00002
|
NM_001018115.3(FANCD2):c.1766+3A>G
|
rs758140679
|
0.00002
|
NM_001018115.3(FANCD2):c.245C>T (p.Thr82Ile)
|
rs1221930544
|
0.00002
|
NM_001018115.3(FANCD2):c.2986A>G (p.Ser996Gly)
|
rs745373058
|
0.00002
|
NM_001018115.3(FANCD2):c.3106T>A (p.Cys1036Ser)
|
rs767901156
|
0.00002
|
NM_001018115.3(FANCD2):c.310A>G (p.Ile104Val)
|
rs774299094
|
0.00002
|
NM_001018115.3(FANCD2):c.3127G>A (p.Gly1043Ser)
|
rs142238966
|
0.00002
|
NM_001018115.3(FANCD2):c.3149T>A (p.Val1050Glu)
|
rs751027444
|
0.00002
|
NM_001018115.3(FANCD2):c.3226A>G (p.Ser1076Gly)
|
rs1371349116
|
0.00002
|
NM_001018115.3(FANCD2):c.3389G>A (p.Cys1130Tyr)
|
rs750409411
|
0.00002
|
NM_001018115.3(FANCD2):c.3406A>G (p.Arg1136Gly)
|
rs369405673
|
0.00002
|
NM_001018115.3(FANCD2):c.3421A>G (p.Ile1141Val)
|
rs752815037
|
0.00002
|
NM_001018115.3(FANCD2):c.3493C>T (p.Arg1165Trp)
|
rs759348779
|
0.00002
|
NM_001018115.3(FANCD2):c.3513T>G (p.Asp1171Glu)
|
rs760823688
|
0.00002
|
NM_001018115.3(FANCD2):c.355C>T (p.Arg119Cys)
|
rs200335298
|
0.00002
|
NM_001018115.3(FANCD2):c.3692T>C (p.Phe1231Ser)
|
rs762915519
|
0.00002
|
NM_001018115.3(FANCD2):c.3734C>T (p.Thr1245Met)
|
rs764775864
|
0.00002
|
NM_001018115.3(FANCD2):c.3808A>G (p.Met1270Val)
|
rs587778333
|
0.00002
|
NM_001018115.3(FANCD2):c.3865C>T (p.Pro1289Ser)
|
rs781605384
|
0.00002
|
NM_001018115.3(FANCD2):c.3895C>T (p.Arg1299Cys)
|
rs555348798
|
0.00002
|
NM_001018115.3(FANCD2):c.3959A>G (p.His1320Arg)
|
rs746501818
|
0.00002
|
NM_001018115.3(FANCD2):c.4175G>A (p.Arg1392Gln)
|
rs1334082637
|
0.00002
|
NM_001018115.3(FANCD2):c.605T>C (p.Ile202Thr)
|
rs751126921
|
0.00002
|
NM_001040436.2(YARS2):c.-72C>G
|
rs552674058
|
0.00002
|
NM_001063.4(TF):c.502+12G>A
|
rs201033555
|
0.00002
|
NM_001063.4(TF):c.828C>T (p.Gly276=)
|
rs769998552
|
0.00002
|
NM_001081.4(CUBN):c.*564G>C
|
rs184284227
|
0.00002
|
NM_001081.4(CUBN):c.10136T>C (p.Val3379Ala)
|
rs1239695630
|
0.00002
|
NM_001081.4(CUBN):c.10187A>G (p.Asn3396Ser)
|
rs780850360
|
0.00002
|
NM_001081.4(CUBN):c.10853G>A (p.Arg3618Gln)
|
rs780837561
|
0.00002
|
NM_001081.4(CUBN):c.3088C>A (p.Leu1030Ile)
|
rs746111876
|
0.00002
|
NM_001081.4(CUBN):c.3517A>G (p.Ser1173Gly)
|
rs768104200
|
0.00002
|
NM_001081.4(CUBN):c.4034G>A (p.Arg1345Gln)
|
rs377486978
|
0.00002
|
NM_001081.4(CUBN):c.4375T>G (p.Ser1459Ala)
|
rs886046875
|
0.00002
|
NM_001081.4(CUBN):c.4598A>G (p.Asn1533Ser)
|
rs1025505410
|
0.00002
|
NM_001081.4(CUBN):c.4811G>T (p.Gly1604Val)
|
rs751110627
|
0.00002
|
NM_001081.4(CUBN):c.483G>A (p.Gln161=)
|
rs371508247
|
0.00002
|
NM_001081.4(CUBN):c.5758G>A (p.Ala1920Thr)
|
rs770772474
|
0.00002
|
NM_001081.4(CUBN):c.5917A>G (p.Ile1973Val)
|
rs556462218
|
0.00002
|
NM_001081.4(CUBN):c.6005A>G (p.Asn2002Ser)
|
rs368261414
|
0.00002
|
NM_001081.4(CUBN):c.6282A>T (p.Gly2094=)
|
rs576557890
|
0.00002
|
NM_001081.4(CUBN):c.6359G>A (p.Trp2120Ter)
|
rs566060177
|
0.00002
|
NM_001081.4(CUBN):c.8017G>A (p.Glu2673Lys)
|
rs781304382
|
0.00002
|
NM_001081.4(CUBN):c.8204A>C (p.Asp2735Ala)
|
rs558369938
|
0.00002
|
NM_001081.4(CUBN):c.8254G>T (p.Gly2752Cys)
|
rs747786939
|
0.00002
|
NM_001081.4(CUBN):c.8382T>C (p.Phe2794=)
|
rs200808196
|
0.00002
|
NM_001081.4(CUBN):c.8831T>C (p.Met2944Thr)
|
rs544783535
|
0.00002
|
NM_001081.4(CUBN):c.9385C>T (p.Leu3129Phe)
|
rs762293500
|
0.00002
|
NM_001081.4(CUBN):c.9454G>A (p.Gly3152Arg)
|
rs772196844
|
0.00002
|
NM_001113378.2(FANCI):c.1176A>T (p.Ser392=)
|
rs201871288
|
0.00002
|
NM_001113378.2(FANCI):c.1513C>T (p.Pro505Ser)
|
rs774909787
|
0.00002
|
NM_001113378.2(FANCI):c.1741G>A (p.Glu581Lys)
|
rs768875486
|
0.00002
|
NM_001113378.2(FANCI):c.1742A>G (p.Glu581Gly)
|
rs1262508273
|
0.00002
|
NM_001113378.2(FANCI):c.17T>C (p.Leu6Ser)
|
rs369268726
|
0.00002
|
NM_001113378.2(FANCI):c.1801G>A (p.Val601Ile)
|
rs200007022
|
0.00002
|
NM_001113378.2(FANCI):c.1850C>G (p.Ser617Cys)
|
rs749295501
|
0.00002
|
NM_001113378.2(FANCI):c.1890+10A>G
|
rs201954421
|
0.00002
|
NM_001113378.2(FANCI):c.1972A>T (p.Ile658Phe)
|
rs745308624
|
0.00002
|
NM_001113378.2(FANCI):c.197G>A (p.Arg66His)
|
rs779515039
|
0.00002
|
NM_001113378.2(FANCI):c.2026G>T (p.Ala676Ser)
|
rs756986642
|
0.00002
|
NM_001113378.2(FANCI):c.2096A>C (p.Tyr699Ser)
|
rs774148630
|
0.00002
|
NM_001113378.2(FANCI):c.209C>T (p.Thr70Ile)
|
rs201796281
|
0.00002
|
NM_001113378.2(FANCI):c.2170-3T>C
|
rs757908899
|
0.00002
|
NM_001113378.2(FANCI):c.2266T>C (p.Tyr756His)
|
rs752028405
|
0.00002
|
NM_001113378.2(FANCI):c.2336A>G (p.Lys779Arg)
|
rs1323965441
|
0.00002
|
NM_001113378.2(FANCI):c.2768A>G (p.Tyr923Cys)
|
rs200907824
|
0.00002
|
NM_001113378.2(FANCI):c.2878C>T (p.Arg960Trp)
|
rs562503186
|
0.00002
|
NM_001113378.2(FANCI):c.3016A>G (p.Met1006Val)
|
rs781108611
|
0.00002
|
NM_001113378.2(FANCI):c.3124C>G (p.Pro1042Ala)
|
rs752438879
|
0.00002
|
NM_001113378.2(FANCI):c.3162C>T (p.His1054=)
|
rs746204528
|
0.00002
|
NM_001113378.2(FANCI):c.3188A>T (p.Asp1063Val)
|
rs142756279
|
0.00002
|
NM_001113378.2(FANCI):c.3309C>G (p.Ile1103Met)
|
rs922792253
|
0.00002
|
NM_001113378.2(FANCI):c.3816+6C>T
|
rs989969696
|
0.00002
|
NM_001113378.2(FANCI):c.644A>G (p.Tyr215Cys)
|
rs751222800
|
0.00002
|
NM_001113378.2(FANCI):c.665C>T (p.Ser222Phe)
|
rs1435589915
|
0.00002
|
NM_001113378.2(FANCI):c.875A>G (p.His292Arg)
|
rs764641724
|
0.00002
|
NM_001113378.2(FANCI):c.919C>T (p.Pro307Ser)
|
rs769485443
|
0.00002
|
NM_001114134.2(EPB42):c.1041G>T (p.Gln347His)
|
rs574359460
|
0.00002
|
NM_001114134.2(EPB42):c.346C>T (p.His116Tyr)
|
rs886051169
|
0.00002
|
NM_001114134.2(EPB42):c.637C>T (p.Arg213Cys)
|
rs115660852
|
0.00002
|
NM_001114636.1(FANCL):c.-13C>T
|
rs757714548
|
0.00002
|
NM_001243177.4(ALDOA):c.475G>T (p.Val159Leu)
|
rs570385246
|
0.00002
|
NM_001243177.4(ALDOA):c.639C>G (p.Pro213=)
|
rs758499704
|
0.00002
|
NM_001243177.4(ALDOA):c.807G>T (p.Lys269Asn)
|
rs1455309434
|
0.00002
|
NM_001271696.3(ABCB7):c.1935+5G>C
|
rs763223675
|
0.00002
|
NM_001321759.2(CDIN1):c.707A>G (p.Tyr236Cys)
|
rs768744226
|
0.00002
|
NM_001355436.2(SPTB):c.4291C>T (p.Arg1431Ter)
|
rs757836263
|
0.00002
|
NM_001360016.2(G6PD):c.220C>T (p.Arg74Cys)
|
rs781848254
|
0.00002
|
NM_001360016.2(G6PD):c.477G>C (p.Met159Ile)
|
rs370918918
|
0.00002
|
NM_001360016.2(G6PD):c.754G>A (p.Glu252Lys)
|
rs782216807
|
0.00002
|
NM_001374504.1(TMPRSS6):c.*140C>T
|
rs886057491
|
0.00002
|
NM_001374504.1(TMPRSS6):c.*24G>A
|
rs182366825
|
0.00002
|
NM_001374504.1(TMPRSS6):c.1440C>T (p.Cys480=)
|
rs546574834
|
0.00002
|
NM_001374504.1(TMPRSS6):c.1762C>T (p.Arg588Trp)
|
rs773272073
|
0.00002
|
NM_001374504.1(TMPRSS6):c.2204G>A (p.Arg735His)
|
rs371794539
|
0.00002
|
NM_001374504.1(TMPRSS6):c.2250+7C>A
|
rs763966214
|
0.00002
|
NM_001374504.1(TMPRSS6):c.656G>A (p.Gly219Asp)
|
rs754848810
|
0.00002
|
NM_001386140.1(MTTP):c.*38G>A
|
rs561157874
|
0.00002
|
NM_001386140.1(MTTP):c.1391C>A (p.Ala464Glu)
|
rs756155398
|
0.00002
|
NM_001386140.1(MTTP):c.2045G>A (p.Gly682Glu)
|
rs751715076
|
0.00002
|
NM_001386140.1(MTTP):c.2165G>A (p.Gly722Asp)
|
rs1419028802
|
0.00002
|
NM_001386140.1(MTTP):c.877G>T (p.Val293Phe)
|
rs146548751
|
0.00002
|
NM_001386140.1(MTTP):c.901T>C (p.Cys301Arg)
|
rs759706918
|
0.00002
|
NM_002049.4(GATA1):c.302C>T (p.Thr101Met)
|
rs200599207
|
0.00002
|
NM_002049.4(GATA1):c.419G>A (p.Arg140Gln)
|
rs997764249
|
0.00002
|
NM_002049.4(GATA1):c.482G>C (p.Ser161Thr)
|
rs782651118
|
0.00002
|
NM_002049.4(GATA1):c.821G>A (p.Ser274Asn)
|
rs374457234
|
0.00002
|
NM_002113.3(CFHR1):c.643G>A (p.Asp215Asn)
|
rs781409951
|
0.00002
|
NM_002454.3(MTRR):c.1216A>G (p.Ser406Gly)
|
rs1239051004
|
0.00002
|
NM_002454.3(MTRR):c.1418T>C (p.Val473Ala)
|
rs777447397
|
0.00002
|
NM_002454.3(MTRR):c.1591C>T (p.His531Tyr)
|
rs767321681
|
0.00002
|
NM_002454.3(MTRR):c.317A>G (p.Asn106Ser)
|
rs763568058
|
0.00002
|
NM_002454.3(MTRR):c.405A>C (p.Leu135Phe)
|
rs754157293
|
0.00002
|
NM_002485.5(NBN):c.104T>C (p.Ile35Thr)
|
rs587780773
|
0.00002
|
NM_002485.5(NBN):c.133C>G (p.His45Asp)
|
rs773865323
|
0.00002
|
NM_002485.5(NBN):c.1484C>T (p.Pro495Leu)
|
rs863224714
|
0.00002
|
NM_002485.5(NBN):c.1667T>A (p.Val556Glu)
|
rs558023830
|
0.00002
|
NM_002485.5(NBN):c.1849G>A (p.Glu617Lys)
|
rs766602873
|
0.00002
|
NM_002485.5(NBN):c.1871G>A (p.Arg624His)
|
rs587782297
|
0.00002
|
NM_002485.5(NBN):c.2029G>A (p.Asp677Asn)
|
rs730881856
|
0.00002
|
NM_002485.5(NBN):c.2141G>A (p.Arg714Gln)
|
rs753270166
|
0.00002
|
NM_002485.5(NBN):c.775G>A (p.Glu259Lys)
|
rs201559159
|
0.00002
|
NM_002485.5(NBN):c.929T>C (p.Ile310Thr)
|
rs753812768
|
0.00002
|
NM_002485.5(NBN):c.940G>A (p.Val314Met)
|
rs529845940
|
0.00002
|
NM_002641.4(PIGA):c.849-19C>T
|
rs780237513
|
0.00002
|
NM_003126.4(SPTA1):c.1981C>T (p.Arg661Cys)
|
rs747716571
|
0.00002
|
NM_003126.4(SPTA1):c.5566-10A>G
|
rs140863916
|
0.00002
|
NM_003126.4(SPTA1):c.6843-8T>C
|
rs766464890
|
0.00002
|
NM_004629.2(FANCG):c.*141A>G
|
rs1323568562
|
0.00002
|
NM_004629.2(FANCG):c.1155C>T (p.Pro385=)
|
rs1217203217
|
0.00002
|
NM_004629.2(FANCG):c.1292T>G (p.Met431Arg)
|
rs759285011
|
0.00002
|
NM_004629.2(FANCG):c.1346C>T (p.Pro449Leu)
|
rs757442131
|
0.00002
|
NM_004629.2(FANCG):c.1702A>G (p.Thr568Ala)
|
rs750212705
|
0.00002
|
NM_004629.2(FANCG):c.458C>G (p.Ala153Gly)
|
rs200074432
|
0.00002
|
NM_004629.2(FANCG):c.635C>T (p.Ala212Val)
|
rs375754266
|
0.00002
|
NM_004629.2(FANCG):c.944G>A (p.Ser315Asn)
|
rs745833004
|
0.00002
|
NM_005050.4(ABCD4):c.1096G>A (p.Glu366Lys)
|
rs771010169
|
0.00002
|
NM_005050.4(ABCD4):c.20C>T (p.Ala7Val)
|
rs763842574
|
0.00002
|
NM_005050.4(ABCD4):c.859G>A (p.Val287Ile)
|
rs764251926
|
0.00002
|
NM_005142.3(CBLIF):c.1163T>C (p.Phe388Ser)
|
rs767310648
|
0.00002
|
NM_005236.3(ERCC4):c.1019G>A (p.Arg340Gln)
|
rs753728949
|
0.00002
|
NM_005236.3(ERCC4):c.1379A>T (p.Lys460Met)
|
rs761301503
|
0.00002
|
NM_005236.3(ERCC4):c.143T>A (p.Phe48Tyr)
|
rs779538282
|
0.00002
|
NM_005236.3(ERCC4):c.1654A>G (p.Thr552Ala)
|
rs773850619
|
0.00002
|
NM_005236.3(ERCC4):c.1942G>A (p.Gly648Ser)
|
rs369471816
|
0.00002
|
NM_005236.3(ERCC4):c.2087C>T (p.Pro696Leu)
|
rs752894496
|
0.00002
|
NM_005236.3(ERCC4):c.2266G>A (p.Val756Met)
|
rs201501958
|
0.00002
|
NM_005236.3(ERCC4):c.256C>T (p.Arg86Cys)
|
rs769932063
|
0.00002
|
NM_005236.3(ERCC4):c.472C>T (p.Arg158Cys)
|
rs746296279
|
0.00002
|
NM_005236.3(ERCC4):c.700A>C (p.Asn234His)
|
rs368218302
|
0.00002
|
NM_005236.3(ERCC4):c.875G>A (p.Arg292Gln)
|
rs202243691
|
0.00002
|
NM_005334.3(HCFC1):c.1429G>A (p.Ala477Thr)
|
rs782010359
|
0.00002
|
NM_005334.3(HCFC1):c.3611G>A (p.Arg1204His)
|
rs782325660
|
0.00002
|
NM_005334.3(HCFC1):c.3754C>T (p.Pro1252Ser)
|
rs782399563
|
0.00002
|
NM_005334.3(HCFC1):c.4315A>C (p.Asn1439His)
|
rs782138046
|
0.00002
|
NM_005334.3(HCFC1):c.4520C>T (p.Ser1507Leu)
|
rs782560491
|
0.00002
|
NM_005334.3(HCFC1):c.4910C>T (p.Ala1637Val)
|
rs1002620023
|
0.00002
|
NM_005373.3(MPL):c.1805T>C (p.Met602Thr)
|
rs770770219
|
0.00002
|
NM_005431.2(XRCC2):c.272G>A (p.Arg91Gln)
|
rs776959023
|
0.00002
|
NM_005431.2(XRCC2):c.596T>C (p.Met199Thr)
|
rs149099078
|
0.00002
|
NM_005431.2(XRCC2):c.644G>A (p.Arg215Gln)
|
rs762828701
|
0.00002
|
NM_006363.6(SEC23B):c.2008C>T (p.Arg670Cys)
|
rs752037101
|
0.00002
|
NM_006363.6(SEC23B):c.2009G>A (p.Arg670His)
|
rs757662443
|
0.00002
|
NM_006363.6(SEC23B):c.2129C>T (p.Thr710Met)
|
rs752664090
|
0.00002
|
NM_006363.6(SEC23B):c.2143A>G (p.Ser715Gly)
|
rs777442287
|
0.00002
|
NM_006516.4(SLC2A1):c.1001G>A (p.Arg334Gln)
|
rs892715050
|
0.00002
|
NM_006516.4(SLC2A1):c.103G>T (p.Ala35Ser)
|
rs796053245
|
0.00002
|
NM_006516.4(SLC2A1):c.136C>G (p.Gln46Glu)
|
rs754791604
|
0.00002
|
NM_006516.4(SLC2A1):c.1445T>C (p.Leu482Pro)
|
rs748340730
|
0.00002
|
NM_006516.4(SLC2A1):c.172C>T (p.Pro58Ser)
|
rs765479065
|
0.00002
|
NM_006516.4(SLC2A1):c.322G>A (p.Val108Met)
|
rs74323945
|
0.00002
|
NM_006516.4(SLC2A1):c.668G>A (p.Arg223Gln)
|
rs397514564
|
0.00002
|
NM_006516.4(SLC2A1):c.790C>T (p.Arg264Cys)
|
rs766376173
|
0.00002
|
NM_006516.4(SLC2A1):c.903G>A (p.Ala301=)
|
rs776461617
|
0.00002
|
NM_006516.4(SLC2A1):c.946G>A (p.Val316Ile)
|
rs920394412
|
0.00002
|
NM_006516.4(SLC2A1):c.967G>A (p.Val323Met)
|
rs749426767
|
0.00002
|
NM_006947.4(SRP72):c.*1478C>A
|
rs1405583789
|
0.00002
|
NM_006947.4(SRP72):c.1636C>A (p.Gln546Lys)
|
rs1185247120
|
0.00002
|
NM_006996.3(SLC19A2):c.30G>A (p.Arg10=)
|
rs928593954
|
0.00002
|
NM_006996.3(SLC19A2):c.42G>T (p.Ala14=)
|
rs945252214
|
0.00002
|
NM_007294.4(BRCA1):c.1723G>A (p.Glu575Lys)
|
rs397508902
|
0.00002
|
NM_007294.4(BRCA1):c.5068A>C (p.Lys1690Gln)
|
rs397507239
|
0.00002
|
NM_015506.3(MMACHC):c.-123A>T
|
rs539415170
|
0.00002
|
NM_015506.3(MMACHC):c.53C>T (p.Pro18Leu)
|
rs371004372
|
0.00002
|
NM_015506.3(MMACHC):c.683C>T (p.Ala228Val)
|
rs201269886
|
0.00002
|
NM_015506.3(MMACHC):c.800G>A (p.Arg267Gln)
|
rs765822392
|
0.00002
|
NM_015506.3(MMACHC):c.840del (p.Gly281fs)
|
rs757384010
|
0.00002
|
NM_015702.3(MMADHC):c.364G>A (p.Glu122Lys)
|
rs777544556
|
0.00002
|
NM_015702.3(MMADHC):c.373G>C (p.Gly125Arg)
|
rs760971849
|
0.00002
|
NM_015702.3(MMADHC):c.697-3C>T
|
rs770272562
|
0.00002
|
NM_015702.3(MMADHC):c.743G>A (p.Arg248His)
|
rs756858861
|
0.00002
|
NM_015702.3(MMADHC):c.800A>G (p.His267Arg)
|
rs753424109
|
0.00002
|
NM_016038.4(SBDS):c.173T>C (p.Val58Ala)
|
rs747222022
|
0.00002
|
NM_016222.4(DDX41):c.253G>T (p.Val85Phe)
|
rs773991873
|
0.00002
|
NM_017875.4(SLC25A38):c.446C>T (p.Thr149Met)
|
rs143865753
|
0.00002
|
NM_017875.4(SLC25A38):c.780A>G (p.Thr260=)
|
rs763845960
|
0.00002
|
NM_018062.4(FANCL):c.1024C>G (p.Leu342Val)
|
rs140758986
|
0.00002
|
NM_018062.4(FANCL):c.428C>T (p.Ala143Val)
|
rs756000370
|
0.00002
|
NM_018062.4(FANCL):c.500T>C (p.Val167Ala)
|
rs1338440311
|
0.00002
|
NM_018062.4(FANCL):c.677G>A (p.Arg226His)
|
rs745526326
|
0.00002
|
NM_018062.4(FANCL):c.810C>A (p.Asn270Lys)
|
rs750050199
|
0.00002
|
NM_018062.4(FANCL):c.969G>A (p.Val323=)
|
rs200819615
|
0.00002
|
NM_018368.4(LMBRD1):c.1346T>C (p.Ile449Thr)
|
rs1340799992
|
0.00002
|
NM_018368.4(LMBRD1):c.187C>G (p.Leu63Val)
|
rs775365046
|
0.00002
|
NM_018368.4(LMBRD1):c.704T>C (p.Leu235Ser)
|
rs376076271
|
0.00002
|
NM_018368.4(LMBRD1):c.796A>G (p.Lys266Glu)
|
rs771226867
|
0.00002
|
NM_018368.4(LMBRD1):c.830G>A (p.Arg277Gln)
|
rs747354714
|
0.00002
|
NM_018368.4(LMBRD1):c.897C>T (p.Gly299=)
|
rs757392138
|
0.00002
|
NM_020937.4(FANCM):c.1009G>C (p.Ala337Pro)
|
rs1210888568
|
0.00002
|
NM_020937.4(FANCM):c.1043A>G (p.Asn348Ser)
|
rs369752557
|
0.00002
|
NM_020937.4(FANCM):c.1046T>C (p.Ile349Thr)
|
rs150185654
|
0.00002
|
NM_020937.4(FANCM):c.1131G>A (p.Met377Ile)
|
rs760935075
|
0.00002
|
NM_020937.4(FANCM):c.1255A>G (p.Met419Val)
|
rs552281088
|
0.00002
|
NM_020937.4(FANCM):c.1270C>T (p.Arg424Cys)
|
rs537833024
|
0.00002
|
NM_020937.4(FANCM):c.1420C>T (p.Arg474Cys)
|
rs999205481
|
0.00002
|
NM_020937.4(FANCM):c.1490C>T (p.Ser497Leu)
|
rs1226481393
|
0.00002
|
NM_020937.4(FANCM):c.1565A>G (p.Gln522Arg)
|
rs371569048
|
0.00002
|
NM_020937.4(FANCM):c.1702A>G (p.Ile568Val)
|
rs558763945
|
0.00002
|
NM_020937.4(FANCM):c.1822A>G (p.Ile608Val)
|
rs761833981
|
0.00002
|
NM_020937.4(FANCM):c.184T>C (p.Tyr62His)
|
rs746609446
|
0.00002
|
NM_020937.4(FANCM):c.1892A>G (p.Asp631Gly)
|
rs753713103
|
0.00002
|
NM_020937.4(FANCM):c.1915A>G (p.Lys639Glu)
|
rs745669373
|
0.00002
|
NM_020937.4(FANCM):c.1973G>A (p.Arg658Gln)
|
rs763495035
|
0.00002
|
NM_020937.4(FANCM):c.2085G>C (p.Arg695Ser)
|
rs368303133
|
0.00002
|
NM_020937.4(FANCM):c.2306G>A (p.Arg769Lys)
|
rs548624235
|
0.00002
|
NM_020937.4(FANCM):c.242C>T (p.Ala81Val)
|
rs538464580
|
0.00002
|
NM_020937.4(FANCM):c.2543C>G (p.Thr848Ser)
|
rs889187666
|
0.00002
|
NM_020937.4(FANCM):c.2575A>G (p.Lys859Glu)
|
rs188528606
|
0.00002
|
NM_020937.4(FANCM):c.2596C>T (p.Leu866Phe)
|
rs367576875
|
0.00002
|
NM_020937.4(FANCM):c.2734A>G (p.Ile912Val)
|
rs45568842
|
0.00002
|
NM_020937.4(FANCM):c.2758C>T (p.Pro920Ser)
|
rs750238406
|
0.00002
|
NM_020937.4(FANCM):c.2815G>A (p.Gly939Arg)
|
rs1037864411
|
0.00002
|
NM_020937.4(FANCM):c.2878T>C (p.Phe960Leu)
|
rs761671822
|
0.00002
|
NM_020937.4(FANCM):c.2890G>A (p.Glu964Lys)
|
rs200017450
|
0.00002
|
NM_020937.4(FANCM):c.2903A>G (p.Tyr968Cys)
|
rs752962214
|
0.00002
|
NM_020937.4(FANCM):c.2920G>A (p.Asp974Asn)
|
rs753999208
|
0.00002
|
NM_020937.4(FANCM):c.2968G>A (p.Val990Ile)
|
rs772477865
|
0.00002
|
NM_020937.4(FANCM):c.3137A>G (p.Gln1046Arg)
|
rs910679351
|
0.00002
|
NM_020937.4(FANCM):c.3173A>G (p.Asn1058Ser)
|
rs747787931
|
0.00002
|
NM_020937.4(FANCM):c.3347A>G (p.His1116Arg)
|
rs778621580
|
0.00002
|
NM_020937.4(FANCM):c.3355G>C (p.Asp1119His)
|
rs370618524
|
0.00002
|
NM_020937.4(FANCM):c.3436G>A (p.Asp1146Asn)
|
rs142077813
|
0.00002
|
NM_020937.4(FANCM):c.352A>G (p.Thr118Ala)
|
rs1227473930
|
0.00002
|
NM_020937.4(FANCM):c.3610C>T (p.Arg1204Cys)
|
rs763796272
|
0.00002
|
NM_020937.4(FANCM):c.3869C>T (p.Thr1290Ile)
|
rs759166551
|
0.00002
|
NM_020937.4(FANCM):c.3935T>C (p.Leu1312Pro)
|
rs200028975
|
0.00002
|
NM_020937.4(FANCM):c.4004A>C (p.Lys1335Thr)
|
rs765026410
|
0.00002
|
NM_020937.4(FANCM):c.4271G>A (p.Arg1424Gln)
|
rs1393856350
|
0.00002
|
NM_020937.4(FANCM):c.4292A>G (p.Lys1431Arg)
|
rs752438783
|
0.00002
|
NM_020937.4(FANCM):c.4440A>G (p.Gln1480=)
|
rs567425336
|
0.00002
|
NM_020937.4(FANCM):c.4483A>G (p.Ile1495Val)
|
rs765860916
|
0.00002
|
NM_020937.4(FANCM):c.4622C>T (p.Ser1541Leu)
|
rs776313378
|
0.00002
|
NM_020937.4(FANCM):c.4775C>T (p.Ser1592Leu)
|
rs759778560
|
0.00002
|
NM_020937.4(FANCM):c.4784C>A (p.Pro1595His)
|
rs750818919
|
0.00002
|
NM_020937.4(FANCM):c.4949A>T (p.Lys1650Ile)
|
rs140993629
|
0.00002
|
NM_020937.4(FANCM):c.497C>A (p.Ala166Asp)
|
rs555879731
|
0.00002
|
NM_020937.4(FANCM):c.5066C>T (p.Ala1689Val)
|
rs759068569
|
0.00002
|
NM_020937.4(FANCM):c.5174A>G (p.Asn1725Ser)
|
rs765200148
|
0.00002
|
NM_020937.4(FANCM):c.5399C>A (p.Pro1800Gln)
|
rs1449697144
|
0.00002
|
NM_020937.4(FANCM):c.5407G>A (p.Ala1803Thr)
|
rs749034471
|
0.00002
|
NM_020937.4(FANCM):c.5419A>G (p.Thr1807Ala)
|
rs369834971
|
0.00002
|
NM_020937.4(FANCM):c.5581A>G (p.Met1861Val)
|
rs763226965
|
0.00002
|
NM_020937.4(FANCM):c.5631G>C (p.Lys1877Asn)
|
rs761269508
|
0.00002
|
NM_020937.4(FANCM):c.5668A>G (p.Met1890Val)
|
rs1413874546
|
0.00002
|
NM_020937.4(FANCM):c.5708A>G (p.Glu1903Gly)
|
rs569435551
|
0.00002
|
NM_020937.4(FANCM):c.5753A>G (p.Tyr1918Cys)
|
rs746039296
|
0.00002
|
NM_020937.4(FANCM):c.5849T>C (p.Leu1950Ser)
|
rs559661870
|
0.00002
|
NM_020937.4(FANCM):c.5887A>G (p.Thr1963Ala)
|
rs757062269
|
0.00002
|
NM_020937.4(FANCM):c.601G>A (p.Gly201Arg)
|
rs139736490
|
0.00002
|
NM_020937.4(FANCM):c.6068A>G (p.Tyr2023Cys)
|
rs750156990
|
0.00002
|
NM_020937.4(FANCM):c.6099A>G (p.Gln2033=)
|
rs757734261
|
0.00002
|
NM_020937.4(FANCM):c.637A>G (p.Ile213Val)
|
rs754976437
|
0.00002
|
NM_020937.4(FANCM):c.88G>C (p.Glu30Gln)
|
rs373268822
|
0.00002
|
NM_020937.4(FANCM):c.919-8A>G
|
rs781119621
|
0.00002
|
NM_021922.3(FANCE):c.*213T>A
|
rs532782953
|
0.00002
|
NM_021922.3(FANCE):c.*322C>T
|
rs559999264
|
0.00002
|
NM_021922.3(FANCE):c.1383+3G>A
|
rs752468400
|
0.00002
|
NM_021922.3(FANCE):c.1489A>G (p.Met497Val)
|
rs781338655
|
0.00002
|
NM_021922.3(FANCE):c.520G>C (p.Gly174Arg)
|
rs767509954
|
0.00002
|
NM_021922.3(FANCE):c.656G>A (p.Arg219Lys)
|
rs551170184
|
0.00002
|
NM_021922.3(FANCE):c.661C>T (p.Arg221Trp)
|
rs771767241
|
0.00002
|
NM_021922.3(FANCE):c.851T>C (p.Ile284Thr)
|
rs370661452
|
0.00002
|
NM_021922.3(FANCE):c.855+6T>G
|
rs1185107943
|
0.00002
|
NM_021922.3(FANCE):c.8C>T (p.Thr3Ile)
|
rs1405929258
|
0.00002
|
NM_021922.3(FANCE):c.953_958del (p.Glu318_Ser320delinsGly)
|
rs1475613789
|
0.00002
|
NM_022725.4(FANCF):c.*555T>C
|
rs1306529494
|
0.00002
|
NM_022725.4(FANCF):c.134A>G (p.His45Arg)
|
rs767088554
|
0.00002
|
NM_022725.4(FANCF):c.268G>A (p.Asp90Asn)
|
rs370200638
|
0.00002
|
NM_022725.4(FANCF):c.279C>T (p.Leu93=)
|
rs199578614
|
0.00002
|
NM_022725.4(FANCF):c.58A>G (p.Thr20Ala)
|
rs1328802237
|
0.00002
|
NM_022725.4(FANCF):c.701G>A (p.Ser234Asn)
|
rs373273222
|
0.00002
|
NM_022725.4(FANCF):c.772G>A (p.Gly258Arg)
|
rs754977013
|
0.00002
|
NM_022725.4(FANCF):c.986T>C (p.Leu329Pro)
|
rs766964364
|
0.00002
|
NM_024675.4(PALB2):c.1093A>G (p.Arg365Gly)
|
rs773001248
|
0.00002
|
NM_024675.4(PALB2):c.1379A>G (p.Gln460Arg)
|
rs749494645
|
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.187C>T (p.Leu63Phe)
|
rs730881899
|
0.00002
|
NM_024675.4(PALB2):c.1955G>A (p.Ser652Asn)
|
rs587781818
|
0.00002
|
NM_024675.4(PALB2):c.2228A>G (p.Tyr743Cys)
|
rs141749524
|
0.00002
|
NM_024675.4(PALB2):c.2612A>G (p.Asp871Gly)
|
rs515726090
|
0.00002
|
NM_024675.4(PALB2):c.2840T>C (p.Leu947Ser)
|
rs45464500
|
0.00002
|
NM_024675.4(PALB2):c.2978C>T (p.Thr993Met)
|
rs61756146
|
0.00002
|
NM_024675.4(PALB2):c.3244A>G (p.Ser1082Gly)
|
rs786203345
|
0.00002
|
NM_024675.4(PALB2):c.897T>C (p.Ser299=)
|
rs180177095
|
0.00002
|
NM_025215.6(PUS1):c.127C>T (p.Pro43Ser)
|
rs928144275
|
0.00002
|
NM_025215.6(PUS1):c.136C>T (p.Arg46Trp)
|
rs765257355
|
0.00002
|
NM_025215.6(PUS1):c.216T>C (p.Gly72=)
|
rs766451588
|
0.00002
|
NM_025215.6(PUS1):c.683C>T (p.Thr228Met)
|
rs755448329
|
0.00002
|
NM_025215.6(PUS1):c.841G>A (p.Val281Met)
|
rs776626629
|
0.00002
|
NM_030943.4(AMN):c.1006G>A (p.Gly336Ser)
|
rs1339571276
|
0.00002
|
NM_030943.4(AMN):c.110G>A (p.Ser37Asn)
|
rs200648108
|
0.00002
|
NM_030943.4(AMN):c.1324G>A (p.Val442Ile)
|
rs760175392
|
0.00002
|
NM_030943.4(AMN):c.532G>A (p.Asp178Asn)
|
rs575761625
|
0.00002
|
NM_032043.3(BRIP1):c.*1330C>T
|
rs933049932
|
0.00002
|
NM_032043.3(BRIP1):c.*3000C>G
|
rs1373033399
|
0.00002
|
NM_032043.3(BRIP1):c.*3307T>C
|
rs886053199
|
0.00002
|
NM_032043.3(BRIP1):c.1246C>T (p.Arg416Trp)
|
rs587780225
|
0.00002
|
NM_032043.3(BRIP1):c.1377A>C (p.Arg459Ser)
|
rs780310294
|
0.00002
|
NM_032043.3(BRIP1):c.151G>A (p.Gly51Arg)
|
rs1603367704
|
0.00002
|
NM_032043.3(BRIP1):c.1759C>G (p.His587Asp)
|
rs876660519
|
0.00002
|
NM_032043.3(BRIP1):c.1899C>G (p.Ile633Met)
|
rs28997572
|
0.00002
|
NM_032043.3(BRIP1):c.2129C>T (p.Ser710Phe)
|
rs768393936
|
0.00002
|
NM_032043.3(BRIP1):c.2554A>G (p.Asn852Asp)
|
rs745782331
|
0.00002
|
NM_032043.3(BRIP1):c.2606A>G (p.Gln869Arg)
|
rs1060501733
|
0.00002
|
NM_032043.3(BRIP1):c.2804T>G (p.Val935Gly)
|
rs4988356
|
0.00002
|
NM_032043.3(BRIP1):c.3064G>A (p.Glu1022Lys)
|
rs587782808
|
0.00002
|
NM_032043.3(BRIP1):c.3188C>T (p.Ser1063Leu)
|
rs575998972
|
0.00002
|
NM_032043.3(BRIP1):c.3191T>C (p.Phe1064Ser)
|
rs916937983
|
0.00002
|
NM_032043.3(BRIP1):c.3296T>G (p.Leu1099Arg)
|
rs772709195
|
0.00002
|
NM_032043.3(BRIP1):c.332C>A (p.Pro111Gln)
|
rs201790351
|
0.00002
|
NM_032043.3(BRIP1):c.3331G>C (p.Glu1111Gln)
|
rs587780248
|
0.00002
|
NM_032043.3(BRIP1):c.3334G>T (p.Asp1112Tyr)
|
rs968860042
|
0.00002
|
NM_032043.3(BRIP1):c.3349T>G (p.Ser1117Ala)
|
rs779860140
|
0.00002
|
NM_032043.3(BRIP1):c.362C>G (p.Thr121Ser)
|
rs777630298
|
0.00002
|
NM_032043.3(BRIP1):c.3676A>C (p.Thr1226Pro)
|
rs781140410
|
0.00002
|
NM_032043.3(BRIP1):c.386C>T (p.Pro129Leu)
|
rs587780831
|
0.00002
|
NM_032043.3(BRIP1):c.394A>T (p.Thr132Ser)
|
rs730881623
|
0.00002
|
NM_032043.3(BRIP1):c.397A>T (p.Thr133Ser)
|
rs764256720
|
0.00002
|
NM_032043.3(BRIP1):c.518G>A (p.Arg173His)
|
rs761432927
|
0.00002
|
NM_032043.3(BRIP1):c.617C>T (p.Ser206Leu)
|
rs565458815
|
0.00002
|
NM_032043.3(BRIP1):c.638A>G (p.His213Arg)
|
rs376760085
|
0.00002
|
NM_032043.3(BRIP1):c.661A>G (p.Thr221Ala)
|
rs777618772
|
0.00002
|
NM_032043.3(BRIP1):c.662C>G (p.Thr221Ser)
|
rs373774920
|
0.00002
|
NM_032043.3(BRIP1):c.713C>T (p.Thr238Ile)
|
rs745955726
|
0.00002
|
NM_032043.3(BRIP1):c.736A>G (p.Ile246Val)
|
rs376893571
|
0.00002
|
NM_032043.3(BRIP1):c.791G>A (p.Arg264Gln)
|
rs758360637
|
0.00002
|
NM_032043.3(BRIP1):c.797C>T (p.Thr266Met)
|
rs550031006
|
0.00002
|
NM_032043.3(BRIP1):c.820A>G (p.Thr274Ala)
|
rs62620988
|
0.00002
|
NM_032043.3(BRIP1):c.859G>A (p.Glu287Lys)
|
rs1309409845
|
0.00002
|
NM_032444.4(SLX4):c.-305C>T
|
rs886051983
|
0.00002
|
NM_032444.4(SLX4):c.-580T>C
|
rs886051985
|
0.00002
|
NM_032444.4(SLX4):c.1150C>A (p.Pro384Thr)
|
rs778504083
|
0.00002
|
NM_032444.4(SLX4):c.1163+5G>T
|
rs762454252
|
0.00002
|
NM_032444.4(SLX4):c.1192C>T (p.Arg398Trp)
|
rs138799572
|
0.00002
|
NM_032444.4(SLX4):c.1234A>G (p.Lys412Glu)
|
rs774436086
|
0.00002
|
NM_032444.4(SLX4):c.1255G>A (p.Glu419Lys)
|
rs941244697
|
0.00002
|
NM_032444.4(SLX4):c.1335T>G (p.Ser445Arg)
|
rs904007909
|
0.00002
|
NM_032444.4(SLX4):c.151T>C (p.Phe51Leu)
|
rs769694224
|
0.00002
|
NM_032444.4(SLX4):c.1574G>A (p.Arg525His)
|
rs756369289
|
0.00002
|
NM_032444.4(SLX4):c.166G>A (p.Ala56Thr)
|
rs746769352
|
0.00002
|
NM_032444.4(SLX4):c.1991C>T (p.Pro664Leu)
|
rs369805557
|
0.00002
|
NM_032444.4(SLX4):c.1994A>G (p.Asp665Gly)
|
rs748574820
|
0.00002
|
NM_032444.4(SLX4):c.2144C>T (p.Pro715Leu)
|
rs749399683
|
0.00002
|
NM_032444.4(SLX4):c.2157G>T (p.Gln719His)
|
rs768316000
|
0.00002
|
NM_032444.4(SLX4):c.217G>C (p.Glu73Gln)
|
rs139829211
|
0.00002
|
NM_032444.4(SLX4):c.2246G>A (p.Arg749His)
|
rs140109914
|
0.00002
|
NM_032444.4(SLX4):c.2528A>C (p.Gln843Pro)
|
rs762300440
|
0.00002
|
NM_032444.4(SLX4):c.2767A>T (p.Met923Leu)
|
rs573280243
|
0.00002
|
NM_032444.4(SLX4):c.2843C>T (p.Ala948Val)
|
rs781462011
|
0.00002
|
NM_032444.4(SLX4):c.2950G>A (p.Glu984Lys)
|
rs750906921
|
0.00002
|
NM_032444.4(SLX4):c.3127G>A (p.Gly1043Arg)
|
rs776060270
|
0.00002
|
NM_032444.4(SLX4):c.3137G>A (p.Arg1046His)
|
rs1008752654
|
0.00002
|
NM_032444.4(SLX4):c.3166C>A (p.Leu1056Met)
|
rs773890423
|
0.00002
|
NM_032444.4(SLX4):c.3316G>A (p.Val1106Met)
|
rs200057338
|
0.00002
|
NM_032444.4(SLX4):c.3583A>G (p.Ile1195Val)
|
rs370761463
|
0.00002
|
NM_032444.4(SLX4):c.3677G>A (p.Arg1226Gln)
|
rs748607152
|
0.00002
|
NM_032444.4(SLX4):c.3872C>T (p.Thr1291Met)
|
rs754761366
|
0.00002
|
NM_032444.4(SLX4):c.3913G>A (p.Ala1305Thr)
|
rs763524714
|
0.00002
|
NM_032444.4(SLX4):c.3962C>T (p.Pro1321Leu)
|
rs778781581
|
0.00002
|
NM_032444.4(SLX4):c.3977C>T (p.Thr1326Ile)
|
rs371394594
|
0.00002
|
NM_032444.4(SLX4):c.3982G>A (p.Val1328Ile)
|
rs1394177026
|
0.00002
|
NM_032444.4(SLX4):c.401C>T (p.Ala134Val)
|
rs759574554
|
0.00002
|
NM_032444.4(SLX4):c.4021A>G (p.Arg1341Gly)
|
rs747230215
|
0.00002
|
NM_032444.4(SLX4):c.4069C>A (p.Leu1357Met)
|
rs775694333
|
0.00002
|
NM_032444.4(SLX4):c.4144A>G (p.Ser1382Gly)
|
rs767790750
|
0.00002
|
NM_032444.4(SLX4):c.4155C>G (p.Asn1385Lys)
|
rs1308197455
|
0.00002
|
NM_032444.4(SLX4):c.4427C>G (p.Thr1476Ser)
|
rs372321470
|
0.00002
|
NM_032444.4(SLX4):c.4484C>T (p.Ala1495Val)
|
rs777033175
|
0.00002
|
NM_032444.4(SLX4):c.4685C>T (p.Pro1562Leu)
|
rs1423103812
|
0.00002
|
NM_032444.4(SLX4):c.4715C>T (p.Pro1572Leu)
|
rs182432298
|
0.00002
|
NM_032444.4(SLX4):c.4739+7G>A
|
rs748897456
|
0.00002
|
NM_032444.4(SLX4):c.4830C>T (p.Ser1610=)
|
rs370775954
|
0.00002
|
NM_032444.4(SLX4):c.4870C>G (p.Pro1624Ala)
|
rs759305861
|
0.00002
|
NM_032444.4(SLX4):c.5060C>G (p.Pro1687Arg)
|
rs765960272
|
0.00002
|
NM_032444.4(SLX4):c.5093C>A (p.Ala1698Asp)
|
rs967813945
|
0.00002
|
NM_032444.4(SLX4):c.5242C>T (p.Gln1748Ter)
|
rs776789371
|
0.00002
|
NM_032444.4(SLX4):c.5423T>G (p.Phe1808Cys)
|
rs371390105
|
0.00002
|
NM_032444.4(SLX4):c.700G>A (p.Glu234Lys)
|
rs149779179
|
0.00002
|
NM_032444.4(SLX4):c.752C>T (p.Ala251Val)
|
rs201117707
|
0.00002
|
NM_032444.4(SLX4):c.760+4T>C
|
rs552926547
|
0.00002
|
NM_032444.4(SLX4):c.796G>A (p.Ala266Thr)
|
rs543071212
|
0.00002
|
NM_032444.4(SLX4):c.802G>A (p.Val268Met)
|
rs1060501798
|
0.00002
|
NM_032444.4(SLX4):c.853G>A (p.Asp285Asn)
|
rs749002564
|
0.00002
|
NM_032444.4(SLX4):c.901A>C (p.Lys301Gln)
|
rs571996250
|
0.00002
|
NM_033022.4(RPS24):c.82C>G (p.Leu28Val)
|
rs775383590
|
0.00002
|
NM_058216.3(RAD51C):c.106G>A (p.Glu36Lys)
|
rs773998134
|
0.00002
|
NM_058216.3(RAD51C):c.1117G>A (p.Glu373Lys)
|
rs1433497291
|
0.00002
|
NM_058216.3(RAD51C):c.354G>C (p.Met118Ile)
|
rs768238518
|
0.00002
|
NM_058216.3(RAD51C):c.397C>G (p.Gln133Glu)
|
rs387907159
|
0.00002
|
NM_058216.3(RAD51C):c.451G>A (p.Val151Met)
|
rs753912045
|
0.00002
|
NM_058216.3(RAD51C):c.481G>C (p.Glu161Gln)
|
rs768903850
|
0.00002
|
NM_058216.3(RAD51C):c.537C>A (p.His179Gln)
|
rs372385738
|
0.00002
|
NM_058216.3(RAD51C):c.571+5G>A
|
rs145779113
|
0.00002
|
NM_058216.3(RAD51C):c.704A>C (p.Lys235Thr)
|
rs748043225
|
0.00002
|
NM_058216.3(RAD51C):c.719T>C (p.Ile240Thr)
|
rs539341386
|
0.00002
|
NM_058216.3(RAD51C):c.746G>A (p.Arg249His)
|
rs730881925
|
0.00002
|
NM_058216.3(RAD51C):c.778C>T (p.Arg260Trp)
|
rs374196453
|
0.00002
|
NM_058216.3(RAD51C):c.904+17A>G
|
rs760664998
|
0.00002
|
NM_058216.3(RAD51C):c.923C>G (p.Ala308Gly)
|
rs786203498
|
0.00002
|
NM_080669.6(SLC46A1):c.*1298G>A
|
rs139970165
|
0.00002
|
NM_080669.6(SLC46A1):c.*3661T>C
|
rs782774927
|
0.00002
|
NM_080669.6(SLC46A1):c.-8G>A
|
rs782192529
|
0.00002
|
NM_138477.4(CDAN1):c.1004G>A (p.Arg335Gln)
|
rs766537047
|
0.00002
|
NM_138477.4(CDAN1):c.2007+11G>A
|
rs758515470
|
0.00002
|
NM_138477.4(CDAN1):c.2800C>T (p.Arg934Trp)
|
rs751799284
|
0.00002
|
NM_138477.4(CDAN1):c.3019C>T (p.Arg1007Trp)
|
rs142276684
|
0.00002
|
NM_138477.4(CDAN1):c.3043C>T (p.Arg1015Cys)
|
rs764025922
|
0.00002
|
NM_138477.4(CDAN1):c.3590A>T (p.Asn1197Ile)
|
rs771780683
|
0.00002
|
NM_138477.4(CDAN1):c.701G>A (p.Ser234Asn)
|
rs755238710
|
0.00002
|
NM_138477.4(CDAN1):c.845G>A (p.Arg282Gln)
|
rs777323929
|
0.00002
|
NM_182916.3(TRNT1):c.1162G>A (p.Val388Ile)
|
rs1006778318
|
0.00002
|
NM_182916.3(TRNT1):c.1190G>C (p.Gly397Ala)
|
rs1427498466
|
0.00002
|
NM_182916.3(TRNT1):c.1278A>C (p.Glu426Asp)
|
rs770832123
|
0.00002
|
NM_182916.3(TRNT1):c.184G>T (p.Ala62Ser)
|
rs150902982
|
0.00002
|
NM_182916.3(TRNT1):c.193G>C (p.Ala65Pro)
|
rs1354319879
|
0.00002
|
NM_182916.3(TRNT1):c.210A>C (p.Leu70Phe)
|
rs750056889
|
0.00002
|
NM_182916.3(TRNT1):c.325G>A (p.Gly109Arg)
|
rs765959111
|
0.00002
|
NM_182916.3(TRNT1):c.395A>G (p.Asp132Gly)
|
rs773948765
|
0.00002
|
NM_182916.3(TRNT1):c.43C>T (p.Arg15Cys)
|
rs766234875
|
0.00002
|
NM_182916.3(TRNT1):c.448C>T (p.Arg150Cys)
|
rs747332169
|
0.00002
|
NM_182916.3(TRNT1):c.549T>G (p.Phe183Leu)
|
rs774353592
|
0.00002
|
NM_182916.3(TRNT1):c.65T>G (p.Leu22Arg)
|
rs191706901
|
0.00002
|
NM_182916.3(TRNT1):c.847A>G (p.Lys283Glu)
|
rs749437475
|
0.00002
|
NM_198253.3(TERT):c.*64G>A
|
rs1327773385
|
0.00002
|
NM_198253.3(TERT):c.2886C>T (p.Arg962=)
|
rs542440625
|
0.00002
|
NM_206965.2(FTCD):c.1166C>G (p.Thr389Arg)
|
rs545214029
|
0.00002
|
NM_206965.2(FTCD):c.1379C>T (p.Ser460Leu)
|
rs755986536
|
0.00002
|
NM_206965.2(FTCD):c.197C>T (p.Ala66Val)
|
rs199867833
|
0.00002
|
NM_206965.2(FTCD):c.847G>A (p.Ala283Thr)
|
rs760635509
|
0.00002
|
NC_000012.12:g.48107374A>G
|
rs755094329
|
0.00001
|
NC_000016.10:g.89839795C>G
|
rs2041486621
|
0.00001
|
NM_000032.5(ALAS2):c.110G>A (p.Arg37His)
|
rs756790340
|
0.00001
|
NM_000032.5(ALAS2):c.1335C>T (p.Ala445=)
|
rs765603040
|
0.00001
|
NM_000032.5(ALAS2):c.1458C>T (p.Asn486=)
|
rs772107960
|
0.00001
|
NM_000037.4(ANK1):c.*1074A>G
|
rs886062933
|
0.00001
|
NM_000037.4(ANK1):c.*1120T>C
|
rs977041324
|
0.00001
|
NM_000037.4(ANK1):c.*2342C>G
|
rs886062929
|
0.00001
|
NM_000037.4(ANK1):c.*48G>A
|
rs752874877
|
0.00001
|
NM_000037.4(ANK1):c.*866C>G
|
rs1160580288
|
0.00001
|
NM_000037.4(ANK1):c.-33G>A
|
rs776534102
|
0.00001
|
NM_000037.4(ANK1):c.1066G>A (p.Val356Ile)
|
rs199832220
|
0.00001
|
NM_000037.4(ANK1):c.1117A>T (p.Thr373Ser)
|
rs779654741
|
0.00001
|
NM_000037.4(ANK1):c.1230G>C (p.Val410=)
|
rs184006495
|
0.00001
|
NM_000037.4(ANK1):c.1265A>T (p.Asn422Ile)
|
rs768063027
|
0.00001
|
NM_000037.4(ANK1):c.1350G>A (p.Thr450=)
|
rs769803878
|
0.00001
|
NM_000037.4(ANK1):c.2197-9A>G
|
rs758665687
|
0.00001
|
NM_000037.4(ANK1):c.2899G>A (p.Glu967Lys)
|
rs770345014
|
0.00001
|
NM_000037.4(ANK1):c.3469G>A (p.Asp1157Asn)
|
rs747027965
|
0.00001
|
NM_000037.4(ANK1):c.3653G>A (p.Arg1218Gln)
|
rs758602146
|
0.00001
|
NM_000037.4(ANK1):c.3709C>A (p.Pro1237Thr)
|
rs765958291
|
0.00001
|
NM_000037.4(ANK1):c.384G>A (p.Lys128=)
|
rs758750884
|
0.00001
|
NM_000037.4(ANK1):c.4037C>T (p.Ala1346Val)
|
rs886062939
|
0.00001
|
NM_000037.4(ANK1):c.4365C>T (p.Val1455=)
|
rs748684817
|
0.00001
|
NM_000037.4(ANK1):c.5177C>T (p.Thr1726Met)
|
rs200662932
|
0.00001
|
NM_000037.4(ANK1):c.5289A>G (p.Thr1763=)
|
rs761133472
|
0.00001
|
NM_000037.4(ANK1):c.5395-1080C>T
|
rs143349452
|
0.00001
|
NM_000037.4(ANK1):c.5395-1157A>T
|
rs1204104038
|
0.00001
|
NM_000037.4(ANK1):c.5448G>A (p.Thr1816=)
|
rs146637140
|
0.00001
|
NM_000037.4(ANK1):c.649G>A (p.Glu217Lys)
|
rs886062942
|
0.00001
|
NM_000037.4(ANK1):c.660C>T (p.Asn220=)
|
rs773555671
|
0.00001
|
NM_000037.4(ANK1):c.711+13C>T
|
rs763737257
|
0.00001
|
NM_000037.4(ANK1):c.722C>T (p.Thr241Met)
|
rs761960519
|
0.00001
|
NM_000037.4(ANK1):c.801C>T (p.Thr267=)
|
rs780194667
|
0.00001
|
NM_000037.4(ANK1):c.947A>G (p.Asp316Gly)
|
rs760321571
|
0.00001
|
NM_000059.4(BRCA2):c.*271C>A
|
rs868342410
|
0.00001
|
NM_000059.4(BRCA2):c.*50A>G
|
rs761312704
|
0.00001
|
NM_000059.4(BRCA2):c.-40+7G>T
|
rs1555279969
|
0.00001
|
NM_000059.4(BRCA2):c.1144A>C (p.Lys382Gln)
|
rs371454630
|
0.00001
|
NM_000059.4(BRCA2):c.2122T>A (p.Ser708Thr)
|
rs80358488
|
0.00001
|
NM_000059.4(BRCA2):c.2186T>C (p.Ile729Thr)
|
rs431825296
|
0.00001
|
NM_000059.4(BRCA2):c.2416G>C (p.Asp806His)
|
rs56404215
|
0.00001
|
NM_000059.4(BRCA2):c.2908G>A (p.Asp970Asn)
|
rs397507295
|
0.00001
|
NM_000059.4(BRCA2):c.2918C>T (p.Ser973Leu)
|
rs397507296
|
0.00001
|
NM_000059.4(BRCA2):c.3495T>C (p.His1165=)
|
rs776655838
|
0.00001
|
NM_000059.4(BRCA2):c.4478A>G (p.Glu1493Gly)
|
rs80358679
|
0.00001
|
NM_000059.4(BRCA2):c.4534C>T (p.Arg1512Cys)
|
rs80358684
|
0.00001
|
NM_000059.4(BRCA2):c.4535G>A (p.Arg1512His)
|
rs80358685
|
0.00001
|
NM_000059.4(BRCA2):c.4599A>C (p.Lys1533Asn)
|
rs80358694
|
0.00001
|
NM_000059.4(BRCA2):c.464G>C (p.Arg155Thr)
|
rs377639990
|
0.00001
|
NM_000059.4(BRCA2):c.505A>C (p.Lys169Gln)
|
rs41293467
|
0.00001
|
NM_000059.4(BRCA2):c.5225A>T (p.Asn1742Ile)
|
rs756463217
|
0.00001
|
NM_000059.4(BRCA2):c.5231G>T (p.Ser1744Ile)
|
rs587782060
|
0.00001
|
NM_000059.4(BRCA2):c.5434G>A (p.Glu1812Lys)
|
rs80358767
|
0.00001
|
NM_000059.4(BRCA2):c.5672C>T (p.Ala1891Val)
|
rs397507360
|
0.00001
|
NM_000059.4(BRCA2):c.5962G>A (p.Val1988Ile)
|
rs28897739
|
0.00001
|
NM_000059.4(BRCA2):c.608C>A (p.Thr203Asn)
|
rs398122547
|
0.00001
|
NM_000059.4(BRCA2):c.6281A>G (p.Tyr2094Cys)
|
rs397507838
|
0.00001
|
NM_000059.4(BRCA2):c.628A>G (p.Ile210Val)
|
rs1555281106
|
0.00001
|
NM_000059.4(BRCA2):c.6540G>C (p.Leu2180Phe)
|
rs398122560
|
0.00001
|
NM_000059.4(BRCA2):c.6626T>C (p.Ile2209Thr)
|
rs431825344
|
0.00001
|
NM_000059.4(BRCA2):c.6695A>T (p.Lys2232Ile)
|
rs786203098
|
0.00001
|
NM_000059.4(BRCA2):c.6706G>A (p.Glu2236Lys)
|
rs41293503
|
0.00001
|
NM_000059.4(BRCA2):c.6713A>G (p.Asp2238Gly)
|
rs80358895
|
0.00001
|
NM_000059.4(BRCA2):c.6785T>G (p.Met2262Arg)
|
rs80358904
|
0.00001
|
NM_000059.4(BRCA2):c.7055C>T (p.Pro2352Leu)
|
rs80358934
|
0.00001
|
NM_000059.4(BRCA2):c.7104G>A (p.Leu2368=)
|
rs764698623
|
0.00001
|
NM_000059.4(BRCA2):c.7447A>G (p.Ser2483Gly)
|
rs80358966
|
0.00001
|
NM_000059.4(BRCA2):c.7628A>G (p.Tyr2543Cys)
|
rs431825354
|
0.00001
|
NM_000059.4(BRCA2):c.8042C>G (p.Thr2681Arg)
|
rs587782519
|
0.00001
|
NM_000059.4(BRCA2):c.847A>G (p.Ile283Val)
|
rs80359097
|
0.00001
|
NM_000059.4(BRCA2):c.9032T>C (p.Leu3011Pro)
|
rs80359155
|
0.00001
|
NM_000059.4(BRCA2):c.909T>G (p.Ser303=)
|
rs757430441
|
0.00001
|
NM_000059.4(BRCA2):c.9106C>G (p.Gln3036Glu)
|
rs202155613
|
0.00001
|
NM_000059.4(BRCA2):c.9433G>C (p.Val3145Leu)
|
rs587776476
|
0.00001
|
NM_000059.4(BRCA2):c.9493A>G (p.Thr3165Ala)
|
rs587782568
|
0.00001
|
NM_000059.4(BRCA2):c.9530A>G (p.Glu3177Gly)
|
rs876658365
|
0.00001
|
NM_000059.4(BRCA2):c.9538C>T (p.Leu3180Phe)
|
rs200598289
|
0.00001
|
NM_000059.4(BRCA2):c.963A>G (p.Gln321=)
|
rs276174927
|
0.00001
|
NM_000096.4(CP):c.*343A>G
|
rs886058085
|
0.00001
|
NM_000096.4(CP):c.1037-3C>A
|
rs754289834
|
0.00001
|
NM_000096.4(CP):c.1039G>A (p.Gly347Ser)
|
rs761317252
|
0.00001
|
NM_000096.4(CP):c.125A>G (p.Lys42Arg)
|
rs886058090
|
0.00001
|
NM_000096.4(CP):c.1277G>A (p.Arg426His)
|
rs181428197
|
0.00001
|
NM_000096.4(CP):c.1309A>G (p.Lys437Glu)
|
rs764238637
|
0.00001
|
NM_000096.4(CP):c.1355T>C (p.Val452Ala)
|
rs761433684
|
0.00001
|
NM_000096.4(CP):c.1379C>T (p.Thr460Ile)
|
rs370863732
|
0.00001
|
NM_000096.4(CP):c.1380C>T (p.Thr460=)
|
rs149790356
|
0.00001
|
NM_000096.4(CP):c.13A>G (p.Ile5Val)
|
rs766078094
|
0.00001
|
NM_000096.4(CP):c.1405G>A (p.Gly469Arg)
|
rs748447606
|
0.00001
|
NM_000096.4(CP):c.1426G>A (p.Glu476Lys)
|
rs1197002943
|
0.00001
|
NM_000096.4(CP):c.1435G>A (p.Gly479Arg)
|
rs773337495
|
0.00001
|
NM_000096.4(CP):c.1478C>T (p.Pro493Leu)
|
rs1391447500
|
0.00001
|
NM_000096.4(CP):c.1546A>G (p.Thr516Ala)
|
rs780668014
|
0.00001
|
NM_000096.4(CP):c.1682A>G (p.Lys561Arg)
|
rs1428887668
|
0.00001
|
NM_000096.4(CP):c.1713+3A>G
|
rs372361874
|
0.00001
|
NM_000096.4(CP):c.1819G>A (p.Val607Met)
|
rs1158598597
|
0.00001
|
NM_000096.4(CP):c.1865-5T>A
|
rs750574317
|
0.00001
|
NM_000096.4(CP):c.1868T>C (p.Met623Thr)
|
rs1328458846
|
0.00001
|
NM_000096.4(CP):c.188T>C (p.Ile63Thr)
|
rs759185877
|
0.00001
|
NM_000096.4(CP):c.1900C>A (p.Leu634Ile)
|
rs200864206
|
0.00001
|
NM_000096.4(CP):c.1954G>A (p.Glu652Lys)
|
rs141425435
|
0.00001
|
NM_000096.4(CP):c.2065C>T (p.Pro689Ser)
|
rs200353789
|
0.00001
|
NM_000096.4(CP):c.2180T>C (p.Phe727Ser)
|
rs886058087
|
0.00001
|
NM_000096.4(CP):c.2224G>C (p.Glu742Gln)
|
rs527915587
|
0.00001
|
NM_000096.4(CP):c.2266C>A (p.His756Asn)
|
rs773420516
|
0.00001
|
NM_000096.4(CP):c.22A>G (p.Ile8Val)
|
rs770665382
|
0.00001
|
NM_000096.4(CP):c.2353C>T (p.Arg785Trp)
|
rs775583038
|
0.00001
|
NM_000096.4(CP):c.2402A>G (p.Glu801Gly)
|
rs984317340
|
0.00001
|
NM_000096.4(CP):c.2434C>A (p.Leu812Ile)
|
rs770844193
|
0.00001
|
NM_000096.4(CP):c.2491C>T (p.Pro831Ser)
|
rs779811076
|
0.00001
|
NM_000096.4(CP):c.2500A>G (p.Ile834Val)
|
rs1377096899
|
0.00001
|
NM_000096.4(CP):c.2593T>C (p.Ser865Pro)
|
rs758596793
|
0.00001
|
NM_000096.4(CP):c.2669A>G (p.Tyr890Cys)
|
rs576931228
|
0.00001
|
NM_000096.4(CP):c.2677T>G (p.Leu893Val)
|
rs769138783
|
0.00001
|
NM_000096.4(CP):c.2687C>T (p.Pro896Leu)
|
rs1415343557
|
0.00001
|
NM_000096.4(CP):c.2697T>C (p.Val899=)
|
rs17847022
|
0.00001
|
NM_000096.4(CP):c.2816C>G (p.Ser939Cys)
|
rs781046060
|
0.00001
|
NM_000096.4(CP):c.3101G>C (p.Gly1034Ala)
|
rs1234930172
|
0.00001
|
NM_000096.4(CP):c.338C>T (p.Ala113Val)
|
rs1378270514
|
0.00001
|
NM_000096.4(CP):c.416C>T (p.Thr139Ile)
|
rs749950432
|
0.00001
|
NM_000096.4(CP):c.41G>A (p.Ser14Asn)
|
rs892697970
|
0.00001
|
NM_000096.4(CP):c.484A>T (p.Thr162Ser)
|
rs1428783802
|
0.00001
|
NM_000096.4(CP):c.548T>C (p.Ile183Thr)
|
rs386134123
|
0.00001
|
NM_000096.4(CP):c.553G>A (p.Ala185Thr)
|
rs960307294
|
0.00001
|
NM_000096.4(CP):c.566T>C (p.Ile189Thr)
|
rs1263674373
|
0.00001
|
NM_000096.4(CP):c.56C>T (p.Ala19Val)
|
rs532618448
|
0.00001
|
NM_000096.4(CP):c.704A>G (p.Asn235Ser)
|
rs1336508383
|
0.00001
|
NM_000096.4(CP):c.791G>C (p.Gly264Ala)
|
rs765086883
|
0.00001
|
NM_000096.4(CP):c.811C>T (p.Pro271Ser)
|
rs774692355
|
0.00001
|
NM_000096.4(CP):c.901G>A (p.Gly301Arg)
|
rs753356388
|
0.00001
|
NM_000119.2(EPB42):c.424G>A (p.Ala142Thr)
|
rs104894487
|
0.00001
|
NM_000135.4(FANCA):c.*625C>T
|
rs779094661
|
0.00001
|
NM_000135.4(FANCA):c.*851G>A
|
rs886052478
|
0.00001
|
NM_000135.4(FANCA):c.-28C>G
|
rs886052490
|
0.00001
|
NM_000135.4(FANCA):c.1007-7C>G
|
rs111271660
|
0.00001
|
NM_000135.4(FANCA):c.1010C>G (p.Ser337Cys)
|
rs374835951
|
0.00001
|
NM_000135.4(FANCA):c.1072C>G (p.Leu358Val)
|
rs748337423
|
0.00001
|
NM_000135.4(FANCA):c.1078C>T (p.Arg360Cys)
|
rs375895456
|
0.00001
|
NM_000135.4(FANCA):c.107A>G (p.Asn36Ser)
|
rs1210459454
|
0.00001
|
NM_000135.4(FANCA):c.109C>T (p.Pro37Ser)
|
rs780833865
|
0.00001
|
NM_000135.4(FANCA):c.1141A>G (p.Thr381Ala)
|
rs774319222
|
0.00001
|
NM_000135.4(FANCA):c.1150G>T (p.Val384Phe)
|
rs751071791
|
0.00001
|
NM_000135.4(FANCA):c.1153C>T (p.His385Tyr)
|
rs757760966
|
0.00001
|
NM_000135.4(FANCA):c.1158G>T (p.Trp386Cys)
|
rs752864343
|
0.00001
|
NM_000135.4(FANCA):c.1211A>G (p.Gln404Arg)
|
rs769664248
|
0.00001
|
NM_000135.4(FANCA):c.1244T>C (p.Met415Thr)
|
rs912838333
|
0.00001
|
NM_000135.4(FANCA):c.1247C>A (p.Ala416Asp)
|
rs750689577
|
0.00001
|
NM_000135.4(FANCA):c.1251G>T (p.Gln417His)
|
rs779068860
|
0.00001
|
NM_000135.4(FANCA):c.1265G>A (p.Cys422Tyr)
|
rs759128726
|
0.00001
|
NM_000135.4(FANCA):c.1279A>G (p.Met427Val)
|
rs368103890
|
0.00001
|
NM_000135.4(FANCA):c.1289C>T (p.Ala430Val)
|
rs772567344
|
0.00001
|
NM_000135.4(FANCA):c.1297G>A (p.Val433Ile)
|
rs753987812
|
0.00001
|
NM_000135.4(FANCA):c.133G>A (p.Glu45Lys)
|
rs142990858
|
0.00001
|
NM_000135.4(FANCA):c.1348G>A (p.Asp450Asn)
|
rs1262122499
|
0.00001
|
NM_000135.4(FANCA):c.136T>C (p.Ser46Pro)
|
rs2041098152
|
0.00001
|
NM_000135.4(FANCA):c.1398C>G (p.Ser466Arg)
|
rs565303230
|
0.00001
|
NM_000135.4(FANCA):c.1404G>C (p.Lys468Asn)
|
rs755713516
|
0.00001
|
NM_000135.4(FANCA):c.1460G>A (p.Arg487Gln)
|
rs377637236
|
0.00001
|
NM_000135.4(FANCA):c.1463A>G (p.Tyr488Cys)
|
rs748907151
|
0.00001
|
NM_000135.4(FANCA):c.1471-3C>G
|
rs1291307989
|
0.00001
|
NM_000135.4(FANCA):c.1480C>T (p.Leu494Phe)
|
rs1060501886
|
0.00001
|
NM_000135.4(FANCA):c.1498C>T (p.Pro500Ser)
|
rs776371246
|
0.00001
|
NM_000135.4(FANCA):c.1500C>T (p.Pro500=)
|
rs139276494
|
0.00001
|
NM_000135.4(FANCA):c.1513T>G (p.Ser505Ala)
|
rs1218121624
|
0.00001
|
NM_000135.4(FANCA):c.1550G>A (p.Arg517Gln)
|
rs1050329686
|
0.00001
|
NM_000135.4(FANCA):c.1558G>A (p.Asp520Asn)
|
rs754123446
|
0.00001
|
NM_000135.4(FANCA):c.1566G>A (p.Lys522=)
|
rs1276716915
|
0.00001
|
NM_000135.4(FANCA):c.158G>C (p.Ser53Thr)
|
rs761614742
|
0.00001
|
NM_000135.4(FANCA):c.160C>T (p.His54Tyr)
|
rs1383572316
|
0.00001
|
NM_000135.4(FANCA):c.1622C>A (p.Thr541Asn)
|
rs775853544
|
0.00001
|
NM_000135.4(FANCA):c.1632C>A (p.His544Gln)
|
rs553129361
|
0.00001
|
NM_000135.4(FANCA):c.1654G>A (p.Glu552Lys)
|
rs1012809189
|
0.00001
|
NM_000135.4(FANCA):c.1667T>C (p.Met556Thr)
|
rs750091512
|
0.00001
|
NM_000135.4(FANCA):c.1690A>C (p.Ile564Leu)
|
rs1032990637
|
0.00001
|
NM_000135.4(FANCA):c.1737C>T (p.Tyr579=)
|
rs529199293
|
0.00001
|
NM_000135.4(FANCA):c.1798C>T (p.Arg600Cys)
|
rs765036744
|
0.00001
|
NM_000135.4(FANCA):c.1803G>A (p.Val601=)
|
rs757053400
|
0.00001
|
NM_000135.4(FANCA):c.1808T>C (p.Phe603Ser)
|
rs766939940
|
0.00001
|
NM_000135.4(FANCA):c.1827-3C>T
|
rs772236777
|
0.00001
|
NM_000135.4(FANCA):c.1835A>G (p.Lys612Arg)
|
rs777736014
|
0.00001
|
NM_000135.4(FANCA):c.1882G>A (p.Ala628Thr)
|
rs766422868
|
0.00001
|
NM_000135.4(FANCA):c.1889A>T (p.Glu630Val)
|
rs199599499
|
0.00001
|
NM_000135.4(FANCA):c.1901A>G (p.Asp634Gly)
|
rs151232042
|
0.00001
|
NM_000135.4(FANCA):c.1902T>G (p.Asp634Glu)
|
rs187300458
|
0.00001
|
NM_000135.4(FANCA):c.1906G>C (p.Ala636Pro)
|
rs1236146369
|
0.00001
|
NM_000135.4(FANCA):c.1930A>T (p.Asn644Tyr)
|
rs1293899212
|
0.00001
|
NM_000135.4(FANCA):c.1934C>T (p.Ser645Phe)
|
rs776682683
|
0.00001
|
NM_000135.4(FANCA):c.1990A>G (p.Met664Val)
|
rs748579719
|
0.00001
|
NM_000135.4(FANCA):c.2013T>C (p.Asp671=)
|
rs1225307143
|
0.00001
|
NM_000135.4(FANCA):c.2018T>C (p.Ile673Thr)
|
rs1319264119
|
0.00001
|
NM_000135.4(FANCA):c.2066G>A (p.Gly689Asp)
|
rs769209218
|
0.00001
|
NM_000135.4(FANCA):c.209A>G (p.Lys70Arg)
|
rs55692229
|
0.00001
|
NM_000135.4(FANCA):c.2111T>A (p.Leu704His)
|
rs1239942003
|
0.00001
|
NM_000135.4(FANCA):c.2114G>A (p.Ser705Asn)
|
rs762616165
|
0.00001
|
NM_000135.4(FANCA):c.2125C>G (p.Pro709Ala)
|
rs746373917
|
0.00001
|
NM_000135.4(FANCA):c.2126C>T (p.Pro709Leu)
|
rs148203537
|
0.00001
|
NM_000135.4(FANCA):c.2141G>A (p.Arg714Gln)
|
rs1054636249
|
0.00001
|
NM_000135.4(FANCA):c.2146C>A (p.His716Asn)
|
rs754896727
|
0.00001
|
NM_000135.4(FANCA):c.2147A>G (p.His716Arg)
|
rs751474452
|
0.00001
|
NM_000135.4(FANCA):c.2149A>G (p.Met717Val)
|
rs766173155
|
0.00001
|
NM_000135.4(FANCA):c.2152-10G>C
|
rs557705265
|
0.00001
|
NM_000135.4(FANCA):c.2180G>A (p.Cys727Tyr)
|
rs1425954290
|
0.00001
|
NM_000135.4(FANCA):c.2182C>G (p.Gln728Glu)
|
rs780192381
|
0.00001
|
NM_000135.4(FANCA):c.2186A>G (p.Asn729Ser)
|
rs1440861257
|
0.00001
|
NM_000135.4(FANCA):c.2203A>G (p.Ser735Gly)
|
rs886052485
|
0.00001
|
NM_000135.4(FANCA):c.220C>G (p.Leu74Val)
|
rs770294560
|
0.00001
|
NM_000135.4(FANCA):c.2210C>T (p.Ala737Val)
|
rs199938598
|
0.00001
|
NM_000135.4(FANCA):c.2218G>A (p.Glu740Lys)
|
rs536086288
|
0.00001
|
NM_000135.4(FANCA):c.2233dup (p.Trp745fs)
|
rs2039278551
|
0.00001
|
NM_000135.4(FANCA):c.2239G>T (p.Ala747Ser)
|
rs931143821
|
0.00001
|
NM_000135.4(FANCA):c.2303T>C (p.Leu768Pro)
|
rs1490352414
|
0.00001
|
NM_000135.4(FANCA):c.2305C>G (p.Leu769Val)
|
rs917707717
|
0.00001
|
NM_000135.4(FANCA):c.2333C>T (p.Ala778Val)
|
rs777163986
|
0.00001
|
NM_000135.4(FANCA):c.2336C>T (p.Pro779Leu)
|
rs1400044983
|
0.00001
|
NM_000135.4(FANCA):c.2394C>T (p.Leu798=)
|
rs765883419
|
0.00001
|
NM_000135.4(FANCA):c.2407G>A (p.Val803Met)
|
rs769083458
|
0.00001
|
NM_000135.4(FANCA):c.2417C>T (p.Pro806Leu)
|
rs1352100383
|
0.00001
|
NM_000135.4(FANCA):c.2419G>A (p.Ala807Thr)
|
rs2039263876
|
0.00001
|
NM_000135.4(FANCA):c.2420C>T (p.Ala807Val)
|
rs144570744
|
0.00001
|
NM_000135.4(FANCA):c.2435T>G (p.Leu812Arg)
|
rs749326662
|
0.00001
|
NM_000135.4(FANCA):c.2437C>T (p.Pro813Ser)
|
rs2039263207
|
0.00001
|
NM_000135.4(FANCA):c.2450T>A (p.Leu817His)
|
rs1307805145
|
0.00001
|
NM_000135.4(FANCA):c.2456A>T (p.Asp819Val)
|
rs976586387
|
0.00001
|
NM_000135.4(FANCA):c.2459G>A (p.Ser820Asn)
|
rs1339411422
|
0.00001
|
NM_000135.4(FANCA):c.2467A>T (p.Thr823Ser)
|
rs1292223325
|
0.00001
|
NM_000135.4(FANCA):c.2474G>A (p.Arg825Lys)
|
rs751222471
|
0.00001
|
NM_000135.4(FANCA):c.2570G>A (p.Cys857Tyr)
|
rs886052484
|
0.00001
|
NM_000135.4(FANCA):c.2573G>C (p.Ser858Thr)
|
rs1291169859
|
0.00001
|
NM_000135.4(FANCA):c.2582C>T (p.Ser861Phe)
|
rs980582362
|
0.00001
|
NM_000135.4(FANCA):c.2594T>G (p.Ile865Ser)
|
rs1331781220
|
0.00001
|
NM_000135.4(FANCA):c.2602-8T>C
|
rs772897825
|
0.00001
|
NM_000135.4(FANCA):c.260C>G (p.Ala87Gly)
|
rs758619078
|
0.00001
|
NM_000135.4(FANCA):c.2611C>G (p.Leu871Val)
|
rs779617838
|
0.00001
|
NM_000135.4(FANCA):c.2651C>G (p.Ser884Cys)
|
rs776492214
|
0.00001
|
NM_000135.4(FANCA):c.2681G>A (p.Arg894Lys)
|
rs587778316
|
0.00001
|
NM_000135.4(FANCA):c.2696C>T (p.Pro899Leu)
|
rs1424540726
|
0.00001
|
NM_000135.4(FANCA):c.2704G>C (p.Asp902His)
|
rs1009521389
|
0.00001
|
NM_000135.4(FANCA):c.2716G>A (p.Ala906Thr)
|
rs763769211
|
0.00001
|
NM_000135.4(FANCA):c.2741G>C (p.Arg914Thr)
|
rs748454613
|
0.00001
|
NM_000135.4(FANCA):c.2750G>A (p.Arg917Gln)
|
rs747220449
|
0.00001
|
NM_000135.4(FANCA):c.2779-9C>G
|
rs764825402
|
0.00001
|
NM_000135.4(FANCA):c.2800C>A (p.His934Asn)
|
rs774871582
|
0.00001
|
NM_000135.4(FANCA):c.2817T>G (p.Ile939Met)
|
rs769970040
|
0.00001
|
NM_000135.4(FANCA):c.2851C>A (p.Arg951=)
|
rs755546887
|
0.00001
|
NM_000135.4(FANCA):c.2873C>T (p.Ala958Val)
|
rs1374262828
|
0.00001
|
NM_000135.4(FANCA):c.2874G>A (p.Ala958=)
|
rs199916178
|
0.00001
|
NM_000135.4(FANCA):c.2879A>G (p.His960Arg)
|
rs1460469198
|
0.00001
|
NM_000135.4(FANCA):c.2903C>T (p.Ser968Leu)
|
rs779162871
|
0.00001
|
NM_000135.4(FANCA):c.2939C>T (p.Ala980Val)
|
rs773070418
|
0.00001
|
NM_000135.4(FANCA):c.2941T>C (p.Cys981Arg)
|
rs191943709
|
0.00001
|
NM_000135.4(FANCA):c.2947A>T (p.Ile983Phe)
|
rs375312389
|
0.00001
|
NM_000135.4(FANCA):c.294G>T (p.Leu98Phe)
|
rs751380220
|
0.00001
|
NM_000135.4(FANCA):c.2959G>A (p.Ala987Thr)
|
rs752735858
|
0.00001
|
NM_000135.4(FANCA):c.2974C>T (p.His992Tyr)
|
rs967438026
|
0.00001
|
NM_000135.4(FANCA):c.2975A>T (p.His992Leu)
|
rs184007986
|
0.00001
|
NM_000135.4(FANCA):c.3047A>G (p.Asp1016Gly)
|
rs1303235237
|
0.00001
|
NM_000135.4(FANCA):c.3065A>G (p.Gln1022Arg)
|
rs933911279
|
0.00001
|
NM_000135.4(FANCA):c.3077C>T (p.Ala1026Val)
|
rs545999415
|
0.00001
|
NM_000135.4(FANCA):c.3109C>A (p.Pro1037Thr)
|
rs771174892
|
0.00001
|
NM_000135.4(FANCA):c.3125C>T (p.Pro1042Leu)
|
rs1173497525
|
0.00001
|
NM_000135.4(FANCA):c.3136C>T (p.His1046Tyr)
|
rs747913731
|
0.00001
|
NM_000135.4(FANCA):c.3173C>T (p.Ala1058Val)
|
rs370873098
|
0.00001
|
NM_000135.4(FANCA):c.317G>C (p.Gly106Ala)
|
rs764893807
|
0.00001
|
NM_000135.4(FANCA):c.3189G>C (p.Trp1063Cys)
|
rs776391208
|
0.00001
|
NM_000135.4(FANCA):c.3193G>A (p.Val1065Met)
|
rs140124051
|
0.00001
|
NM_000135.4(FANCA):c.3215A>G (p.Gln1072Arg)
|
rs1013239803
|
0.00001
|
NM_000135.4(FANCA):c.3230T>A (p.Met1077Lys)
|
rs776603588
|
0.00001
|
NM_000135.4(FANCA):c.3231G>A (p.Met1077Ile)
|
rs2038515231
|
0.00001
|
NM_000135.4(FANCA):c.3238C>T (p.Arg1080Trp)
|
rs760392231
|
0.00001
|
NM_000135.4(FANCA):c.3246C>T (p.Leu1082=)
|
rs753864057
|
0.00001
|
NM_000135.4(FANCA):c.3250C>T (p.Arg1084Cys)
|
rs764206631
|
0.00001
|
NM_000135.4(FANCA):c.3268C>T (p.Leu1090Phe)
|
rs1567603054
|
0.00001
|
NM_000135.4(FANCA):c.3270C>T (p.Leu1090=)
|
rs762719233
|
0.00001
|
NM_000135.4(FANCA):c.3274G>A (p.Gly1092Ser)
|
rs772828870
|
0.00001
|
NM_000135.4(FANCA):c.3338A>T (p.Asn1113Ile)
|
rs1204335568
|
0.00001
|
NM_000135.4(FANCA):c.3367G>A (p.Gly1123Arg)
|
rs1437529209
|
0.00001
|
NM_000135.4(FANCA):c.3373G>A (p.Ala1125Thr)
|
rs1162813981
|
0.00001
|
NM_000135.4(FANCA):c.3382C>G (p.Gln1128Glu)
|
rs1439817346
|
0.00001
|
NM_000135.4(FANCA):c.3385G>C (p.Asp1129His)
|
rs768851109
|
0.00001
|
NM_000135.4(FANCA):c.3389T>C (p.Ile1130Thr)
|
rs2038408218
|
0.00001
|
NM_000135.4(FANCA):c.338C>T (p.Ser113Leu)
|
rs149903404
|
0.00001
|
NM_000135.4(FANCA):c.343G>A (p.Gly115Arg)
|
rs769824282
|
0.00001
|
NM_000135.4(FANCA):c.3525G>A (p.Pro1175=)
|
rs765106818
|
0.00001
|
NM_000135.4(FANCA):c.353C>T (p.Ala118Val)
|
rs1201642328
|
0.00001
|
NM_000135.4(FANCA):c.3550C>T (p.Arg1184Trp)
|
rs201492940
|
0.00001
|
NM_000135.4(FANCA):c.3556A>G (p.Arg1186Gly)
|
rs748713183
|
0.00001
|
NM_000135.4(FANCA):c.3623G>A (p.Ser1208Asn)
|
rs1351484293
|
0.00001
|
NM_000135.4(FANCA):c.3626+4C>T
|
rs772166806
|
0.00001
|
NM_000135.4(FANCA):c.3626+7G>A
|
rs933657325
|
0.00001
|
NM_000135.4(FANCA):c.3646G>A (p.Ala1216Thr)
|
rs1262639465
|
0.00001
|
NM_000135.4(FANCA):c.3658C>T (p.Pro1220Ser)
|
rs773150877
|
0.00001
|
NM_000135.4(FANCA):c.3697G>A (p.Ala1233Thr)
|
rs751899346
|
0.00001
|
NM_000135.4(FANCA):c.3703C>G (p.Gln1235Glu)
|
rs769919783
|
0.00001
|
NM_000135.4(FANCA):c.3733C>A (p.Gln1245Lys)
|
rs745665658
|
0.00001
|
NM_000135.4(FANCA):c.3750C>G (p.Asp1250Glu)
|
rs777313447
|
0.00001
|
NM_000135.4(FANCA):c.3754G>A (p.Glu1252Lys)
|
rs766875357
|
0.00001
|
NM_000135.4(FANCA):c.3754G>C (p.Glu1252Gln)
|
rs766875357
|
0.00001
|
NM_000135.4(FANCA):c.3809C>T (p.Ser1270Leu)
|
rs752800577
|
0.00001
|
NM_000135.4(FANCA):c.3817C>G (p.Leu1273Val)
|
rs759514393
|
0.00001
|
NM_000135.4(FANCA):c.3838G>A (p.Asp1280Asn)
|
rs914045767
|
0.00001
|
NM_000135.4(FANCA):c.3843G>A (p.Leu1281=)
|
rs768380959
|
0.00001
|
NM_000135.4(FANCA):c.3849G>T (p.Lys1283Asn)
|
rs749869884
|
0.00001
|
NM_000135.4(FANCA):c.3858C>T (p.His1286=)
|
rs761705192
|
0.00001
|
NM_000135.4(FANCA):c.3893G>C (p.Arg1298Thr)
|
rs1261384324
|
0.00001
|
NM_000135.4(FANCA):c.3949C>T (p.Arg1317Trp)
|
rs200215131
|
0.00001
|
NM_000135.4(FANCA):c.3953T>G (p.Leu1318Arg)
|
rs1439125894
|
0.00001
|
NM_000135.4(FANCA):c.39G>C (p.Gln13His)
|
rs1486155993
|
0.00001
|
NM_000135.4(FANCA):c.3G>T (p.Met1Ile)
|
rs1555581729
|
0.00001
|
NM_000135.4(FANCA):c.4010+12C>T
|
rs1445940471
|
0.00001
|
NM_000135.4(FANCA):c.4010+4C>T
|
rs1206285832
|
0.00001
|
NM_000135.4(FANCA):c.4019C>T (p.Ser1340Phe)
|
rs112734327
|
0.00001
|
NM_000135.4(FANCA):c.4051G>C (p.Glu1351Gln)
|
rs761934804
|
0.00001
|
NM_000135.4(FANCA):c.4085T>A (p.Leu1362Ter)
|
rs745688750
|
0.00001
|
NM_000135.4(FANCA):c.4098G>C (p.Gln1366His)
|
rs1041491550
|
0.00001
|
NM_000135.4(FANCA):c.4099C>G (p.Leu1367Val)
|
rs2062056417
|
0.00001
|
NM_000135.4(FANCA):c.4113G>T (p.Gly1371=)
|
rs1060501882
|
0.00001
|
NM_000135.4(FANCA):c.4159A>G (p.Lys1387Glu)
|
rs1436768029
|
0.00001
|
NM_000135.4(FANCA):c.4167+2C>T
|
rs374765708
|
0.00001
|
NM_000135.4(FANCA):c.4167+4G>A
|
rs370080063
|
0.00001
|
NM_000135.4(FANCA):c.4168-11T>C
|
rs753475025
|
0.00001
|
NM_000135.4(FANCA):c.4186A>G (p.Ile1396Val)
|
rs1376923890
|
0.00001
|
NM_000135.4(FANCA):c.4188A>G (p.Ile1396Met)
|
rs1441175300
|
0.00001
|
NM_000135.4(FANCA):c.4274G>A (p.Arg1425His)
|
rs147406377
|
0.00001
|
NM_000135.4(FANCA):c.4298G>A (p.Ser1433Asn)
|
rs747310276
|
0.00001
|
NM_000135.4(FANCA):c.4337C>T (p.Ala1446Val)
|
rs2062029094
|
0.00001
|
NM_000135.4(FANCA):c.475A>G (p.Ser159Gly)
|
rs770716257
|
0.00001
|
NM_000135.4(FANCA):c.47G>A (p.Gly16Glu)
|
rs908258968
|
0.00001
|
NM_000135.4(FANCA):c.487C>T (p.Arg163Cys)
|
rs747651383
|
0.00001
|
NM_000135.4(FANCA):c.488G>A (p.Arg163His)
|
rs375648811
|
0.00001
|
NM_000135.4(FANCA):c.499T>C (p.Cys167Arg)
|
rs1449541412
|
0.00001
|
NM_000135.4(FANCA):c.549G>T (p.Trp183Cys)
|
rs758528624
|
0.00001
|
NM_000135.4(FANCA):c.55C>T (p.Arg19Trp)
|
rs1300733063
|
0.00001
|
NM_000135.4(FANCA):c.563A>G (p.Gln188Arg)
|
rs763736133
|
0.00001
|
NM_000135.4(FANCA):c.571G>T (p.Val191Leu)
|
rs1429483489
|
0.00001
|
NM_000135.4(FANCA):c.582A>G (p.Gln194=)
|
rs748517164
|
0.00001
|
NM_000135.4(FANCA):c.596+5C>T
|
rs758345423
|
0.00001
|
NM_000135.4(FANCA):c.59G>A (p.Arg20Lys)
|
rs376307136
|
0.00001
|
NM_000135.4(FANCA):c.610C>G (p.His204Asp)
|
rs749380996
|
0.00001
|
NM_000135.4(FANCA):c.660G>C (p.Gln220His)
|
rs1555571174
|
0.00001
|
NM_000135.4(FANCA):c.676C>G (p.Gln226Glu)
|
rs1598177148
|
0.00001
|
NM_000135.4(FANCA):c.695G>A (p.Arg232Lys)
|
rs886052487
|
0.00001
|
NM_000135.4(FANCA):c.700A>G (p.Met234Val)
|
rs1042676101
|
0.00001
|
NM_000135.4(FANCA):c.769G>A (p.Val257Met)
|
rs777311234
|
0.00001
|
NM_000135.4(FANCA):c.793-12C>G
|
rs746312984
|
0.00001
|
NM_000135.4(FANCA):c.793-3C>G
|
rs749688050
|
0.00001
|
NM_000135.4(FANCA):c.797C>T (p.Thr266Met)
|
rs752799441
|
0.00001
|
NM_000135.4(FANCA):c.7G>C (p.Asp3His)
|
rs1246636933
|
0.00001
|
NM_000135.4(FANCA):c.838G>A (p.Ala280Thr)
|
rs1010833101
|
0.00001
|
NM_000135.4(FANCA):c.839C>T (p.Ala280Val)
|
rs767092317
|
0.00001
|
NM_000135.4(FANCA):c.876C>G (p.His292Gln)
|
rs527897404
|
0.00001
|
NM_000135.4(FANCA):c.882C>G (p.Ile294Met)
|
rs754520622
|
0.00001
|
NM_000135.4(FANCA):c.8A>C (p.Asp3Ala)
|
rs1183087111
|
0.00001
|
NM_000135.4(FANCA):c.908G>A (p.Ser303Asn)
|
rs1060501877
|
0.00001
|
NM_000135.4(FANCA):c.911G>C (p.Gly304Ala)
|
rs745451374
|
0.00001
|
NM_000135.4(FANCA):c.913C>T (p.His305Tyr)
|
rs774054025
|
0.00001
|
NM_000135.4(FANCA):c.917C>T (p.Thr306Met)
|
rs370852532
|
0.00001
|
NM_000135.4(FANCA):c.92A>G (p.Lys31Arg)
|
rs2041101472
|
0.00001
|
NM_000135.4(FANCA):c.982C>G (p.Leu328Val)
|
rs779244841
|
0.00001
|
NM_000136.3(FANCC):c.*1045C>T
|
rs537983135
|
0.00001
|
NM_000136.3(FANCC):c.*143A>G
|
rs189154697
|
0.00001
|
NM_000136.3(FANCC):c.*1976C>T
|
rs752733985
|
0.00001
|
NM_000136.3(FANCC):c.*2128C>T
|
rs567507884
|
0.00001
|
NM_000136.3(FANCC):c.*2402G>C
|
rs1354689137
|
0.00001
|
NM_000136.3(FANCC):c.*2528A>G
|
rs1057515696
|
0.00001
|
NM_000136.3(FANCC):c.*576C>T
|
rs1057515701
|
0.00001
|
NM_000136.3(FANCC):c.-2A>G
|
rs773045474
|
0.00001
|
NM_000136.3(FANCC):c.-79+1G>A
|
rs1228886763
|
0.00001
|
NM_000136.3(FANCC):c.1001G>A (p.Arg334Gln)
|
rs377468919
|
0.00001
|
NM_000136.3(FANCC):c.1019A>G (p.Tyr340Cys)
|
rs746828156
|
0.00001
|
NM_000136.3(FANCC):c.1030A>G (p.Thr344Ala)
|
rs1228873579
|
0.00001
|
NM_000136.3(FANCC):c.1048A>G (p.Met350Val)
|
rs863224607
|
0.00001
|
NM_000136.3(FANCC):c.104G>C (p.Cys35Ser)
|
rs143212932
|
0.00001
|
NM_000136.3(FANCC):c.1063G>C (p.Asp355His)
|
rs587778325
|
0.00001
|
NM_000136.3(FANCC):c.1069C>G (p.Gln357Glu)
|
rs759900071
|
0.00001
|
NM_000136.3(FANCC):c.1079C>T (p.Pro360Leu)
|
rs730881721
|
0.00001
|
NM_000136.3(FANCC):c.1082G>A (p.Arg361Gln)
|
rs761336987
|
0.00001
|
NM_000136.3(FANCC):c.1090T>C (p.Trp364Arg)
|
rs771694972
|
0.00001
|
NM_000136.3(FANCC):c.109C>G (p.His37Asp)
|
rs864622230
|
0.00001
|
NM_000136.3(FANCC):c.112G>A (p.Val38Met)
|
rs778951584
|
0.00001
|
NM_000136.3(FANCC):c.1146G>C (p.Gln382His)
|
rs770809637
|
0.00001
|
NM_000136.3(FANCC):c.1150C>T (p.His384Tyr)
|
rs1383057170
|
0.00001
|
NM_000136.3(FANCC):c.1151A>G (p.His384Arg)
|
rs577302082
|
0.00001
|
NM_000136.3(FANCC):c.1201G>A (p.Gly401Arg)
|
rs730881722
|
0.00001
|
NM_000136.3(FANCC):c.1252C>T (p.Pro418Ser)
|
rs1284061457
|
0.00001
|
NM_000136.3(FANCC):c.1281C>T (p.Ala427=)
|
rs754604606
|
0.00001
|
NM_000136.3(FANCC):c.1291G>A (p.Gly431Ser)
|
rs1588047887
|
0.00001
|
NM_000136.3(FANCC):c.1297C>T (p.Arg433Cys)
|
rs369684405
|
0.00001
|
NM_000136.3(FANCC):c.1298G>A (p.Arg433His)
|
rs768676102
|
0.00001
|
NM_000136.3(FANCC):c.1310A>G (p.Gln437Arg)
|
rs912537449
|
0.00001
|
NM_000136.3(FANCC):c.1327A>G (p.Met443Val)
|
rs150941781
|
0.00001
|
NM_000136.3(FANCC):c.1351G>A (p.Gly451Ser)
|
rs141805918
|
0.00001
|
NM_000136.3(FANCC):c.1355A>G (p.His452Arg)
|
rs1224625808
|
0.00001
|
NM_000136.3(FANCC):c.1358T>A (p.Leu453His)
|
rs1490551416
|
0.00001
|
NM_000136.3(FANCC):c.1366A>G (p.Met456Val)
|
rs1554828443
|
0.00001
|
NM_000136.3(FANCC):c.1379G>A (p.Ser460Asn)
|
rs748938789
|
0.00001
|
NM_000136.3(FANCC):c.143T>C (p.Met48Thr)
|
rs1353498563
|
0.00001
|
NM_000136.3(FANCC):c.1464G>C (p.Arg488Ser)
|
rs1415434775
|
0.00001
|
NM_000136.3(FANCC):c.1513G>A (p.Ala505Thr)
|
rs780179187
|
0.00001
|
NM_000136.3(FANCC):c.1540C>T (p.His514Tyr)
|
rs749319183
|
0.00001
|
NM_000136.3(FANCC):c.1562A>C (p.Glu521Ala)
|
rs781445050
|
0.00001
|
NM_000136.3(FANCC):c.1567A>G (p.Ile523Val)
|
rs1235875394
|
0.00001
|
NM_000136.3(FANCC):c.1568T>C (p.Ile523Thr)
|
rs1554827151
|
0.00001
|
NM_000136.3(FANCC):c.1570G>A (p.Gly524Ser)
|
rs755289392
|
0.00001
|
NM_000136.3(FANCC):c.160G>A (p.Glu54Lys)
|
rs1564794487
|
0.00001
|
NM_000136.3(FANCC):c.1622C>T (p.Pro541Leu)
|
rs1554827120
|
0.00001
|
NM_000136.3(FANCC):c.1633A>G (p.Lys545Glu)
|
rs1064793496
|
0.00001
|
NM_000136.3(FANCC):c.1634A>G (p.Lys545Arg)
|
rs571668582
|
0.00001
|
NM_000136.3(FANCC):c.166-4_166-1dup
|
rs746016938
|
0.00001
|
NM_000136.3(FANCC):c.1664G>A (p.Arg555Gln)
|
rs369636116
|
0.00001
|
NM_000136.3(FANCC):c.176C>T (p.Thr59Ile)
|
rs149566909
|
0.00001
|
NM_000136.3(FANCC):c.209T>A (p.Leu70Gln)
|
rs150174412
|
0.00001
|
NM_000136.3(FANCC):c.238A>G (p.Ile80Val)
|
rs1064793110
|
0.00001
|
NM_000136.3(FANCC):c.239T>C (p.Ile80Thr)
|
rs4647419
|
0.00001
|
NM_000136.3(FANCC):c.262A>C (p.Lys88Gln)
|
rs1060502519
|
0.00001
|
NM_000136.3(FANCC):c.271A>G (p.Ile91Val)
|
rs771619614
|
0.00001
|
NM_000136.3(FANCC):c.278G>A (p.Cys93Tyr)
|
rs774029807
|
0.00001
|
NM_000136.3(FANCC):c.290T>C (p.Leu97Pro)
|
rs1223097554
|
0.00001
|
NM_000136.3(FANCC):c.329T>C (p.Leu110Pro)
|
rs777731560
|
0.00001
|
NM_000136.3(FANCC):c.345G>A (p.Gln115=)
|
rs1031713372
|
0.00001
|
NM_000136.3(FANCC):c.347G>A (p.Gly116Asp)
|
rs1282106098
|
0.00001
|
NM_000136.3(FANCC):c.364C>T (p.Leu122Phe)
|
rs1064796148
|
0.00001
|
NM_000136.3(FANCC):c.397C>T (p.Leu133Phe)
|
rs587779906
|
0.00001
|
NM_000136.3(FANCC):c.407A>C (p.Gln136Pro)
|
rs1180924540
|
0.00001
|
NM_000136.3(FANCC):c.436_438del (p.Tyr146del)
|
rs761347179
|
0.00001
|
NM_000136.3(FANCC):c.440C>T (p.Pro147Leu)
|
rs730881711
|
0.00001
|
NM_000136.3(FANCC):c.46A>G (p.Met16Val)
|
rs1390412870
|
0.00001
|
NM_000136.3(FANCC):c.472G>C (p.Ala158Pro)
|
rs372338418
|
0.00001
|
NM_000136.3(FANCC):c.476C>T (p.Ser159Phe)
|
rs1588218581
|
0.00001
|
NM_000136.3(FANCC):c.521+5G>C
|
rs1301899973
|
0.00001
|
NM_000136.3(FANCC):c.526G>C (p.Ala176Pro)
|
rs767389988
|
0.00001
|
NM_000136.3(FANCC):c.530C>T (p.Pro177Leu)
|
rs1208450171
|
0.00001
|
NM_000136.3(FANCC):c.532G>A (p.Glu178Lys)
|
rs554302947
|
0.00001
|
NM_000136.3(FANCC):c.536G>A (p.Arg179Gln)
|
rs538875706
|
0.00001
|
NM_000136.3(FANCC):c.542C>T (p.Ala181Val)
|
rs182879858
|
0.00001
|
NM_000136.3(FANCC):c.551C>T (p.Ser184Leu)
|
rs746367952
|
0.00001
|
NM_000136.3(FANCC):c.571A>C (p.Ile191Leu)
|
rs752429169
|
0.00001
|
NM_000136.3(FANCC):c.572T>C (p.Ile191Thr)
|
rs767302089
|
0.00001
|
NM_000136.3(FANCC):c.583G>C (p.Asp195His)
|
rs774140528
|
0.00001
|
NM_000136.3(FANCC):c.625C>T (p.Arg209Cys)
|
rs373270404
|
0.00001
|
NM_000136.3(FANCC):c.635A>G (p.Gln212Arg)
|
rs1445499474
|
0.00001
|
NM_000136.3(FANCC):c.650C>T (p.Pro217Leu)
|
rs730881714
|
0.00001
|
NM_000136.3(FANCC):c.656T>A (p.Phe219Tyr)
|
rs1588181383
|
0.00001
|
NM_000136.3(FANCC):c.668T>C (p.Val223Ala)
|
rs751410815
|
0.00001
|
NM_000136.3(FANCC):c.679A>G (p.Ile227Val)
|
rs864622550
|
0.00001
|
NM_000136.3(FANCC):c.706A>G (p.Met236Val)
|
rs771319430
|
0.00001
|
NM_000136.3(FANCC):c.739C>T (p.Leu247Phe)
|
rs1554835099
|
0.00001
|
NM_000136.3(FANCC):c.76T>A (p.Ser26Thr)
|
rs1165230596
|
0.00001
|
NM_000136.3(FANCC):c.792T>G (p.Ser264Arg)
|
rs730881717
|
0.00001
|
NM_000136.3(FANCC):c.802T>A (p.Cys268Ser)
|
rs730881718
|
0.00001
|
NM_000136.3(FANCC):c.823T>C (p.Phe275Leu)
|
rs745621828
|
0.00001
|
NM_000136.3(FANCC):c.835T>A (p.Ser279Thr)
|
rs757190154
|
0.00001
|
NM_000136.3(FANCC):c.839C>T (p.Ser280Leu)
|
rs749230615
|
0.00001
|
NM_000136.3(FANCC):c.851C>T (p.Ala284Val)
|
rs201281511
|
0.00001
|
NM_000136.3(FANCC):c.871T>C (p.Phe291Leu)
|
rs769649289
|
0.00001
|
NM_000136.3(FANCC):c.875G>A (p.Arg292Gln)
|
rs747060782
|
0.00001
|
NM_000136.3(FANCC):c.897-3C>T
|
rs1057521714
|
0.00001
|
NM_000136.3(FANCC):c.897G>T (p.Arg299Ser)
|
rs759083348
|
0.00001
|
NM_000136.3(FANCC):c.8A>C (p.Gln3Pro)
|
rs1415268424
|
0.00001
|
NM_000136.3(FANCC):c.916G>A (p.Asp306Asn)
|
rs772992002
|
0.00001
|
NM_000136.3(FANCC):c.917A>T (p.Asp306Val)
|
rs1383010376
|
0.00001
|
NM_000136.3(FANCC):c.943A>G (p.Ile315Val)
|
rs587779910
|
0.00001
|
NM_000136.3(FANCC):c.950T>G (p.Val317Gly)
|
rs1438781491
|
0.00001
|
NM_000136.3(FANCC):c.956C>T (p.Thr319Met)
|
rs745910444
|
0.00001
|
NM_000136.3(FANCC):c.996+6T>C
|
rs200934877
|
0.00001
|
NM_000136.3(FANCC):c.998T>C (p.Leu333Pro)
|
rs864622191
|
0.00001
|
NM_000175.5(GPI):c.1498G>A (p.Val500Ile)
|
rs552424309
|
0.00001
|
NM_000175.5(GPI):c.1618G>A (p.Ala540Thr)
|
rs547475819
|
0.00001
|
NM_000175.5(GPI):c.475G>A (p.Gly159Ser)
|
rs137853582
|
0.00001
|
NM_000175.5(GPI):c.572A>G (p.His191Arg)
|
rs758281551
|
0.00001
|
NM_000175.5(GPI):c.640A>G (p.Thr214Ala)
|
rs536683131
|
0.00001
|
NM_000175.5(GPI):c.880G>A (p.Glu294Lys)
|
rs560277140
|
0.00001
|
NM_000186.4(CFH):c.*14G>A
|
rs463726
|
0.00001
|
NM_000186.4(CFH):c.100A>T (p.Thr34Ser)
|
rs1389897706
|
0.00001
|
NM_000186.4(CFH):c.1357A>T (p.Ile453Leu)
|
rs1450633243
|
0.00001
|
NM_000186.4(CFH):c.1474A>G (p.Ile492Val)
|
rs892717090
|
0.00001
|
NM_000186.4(CFH):c.1612G>C (p.Asp538His)
|
rs778051521
|
0.00001
|
NM_000186.4(CFH):c.1697-3A>C
|
rs778174105
|
0.00001
|
NM_000186.4(CFH):c.1744C>T (p.Arg582Cys)
|
rs144696019
|
0.00001
|
NM_000186.4(CFH):c.1745G>A (p.Arg582His)
|
rs138890387
|
0.00001
|
NM_000186.4(CFH):c.1864A>G (p.Ile622Val)
|
rs990484984
|
0.00001
|
NM_000186.4(CFH):c.1934C>T (p.Thr645Met)
|
rs749232210
|
0.00001
|
NM_000186.4(CFH):c.2047G>A (p.Val683Met)
|
rs573295841
|
0.00001
|
NM_000186.4(CFH):c.2151C>A (p.Phe717Leu)
|
rs763441589
|
0.00001
|
NM_000186.4(CFH):c.2314G>A (p.Asp772Asn)
|
rs374704701
|
0.00001
|
NM_000186.4(CFH):c.2416G>T (p.Ala806Ser)
|
rs753331225
|
0.00001
|
NM_000186.4(CFH):c.2542G>A (p.Gly848Arg)
|
rs886045746
|
0.00001
|
NM_000186.4(CFH):c.2753G>A (p.Gly918Glu)
|
rs1408179720
|
0.00001
|
NM_000186.4(CFH):c.2784C>A (p.Gly928=)
|
rs755926856
|
0.00001
|
NM_000186.4(CFH):c.3130A>G (p.Arg1044Gly)
|
rs1366929531
|
0.00001
|
NM_000186.4(CFH):c.3134-7T>C
|
rs779166622
|
0.00001
|
NM_000186.4(CFH):c.3357C>G (p.Asp1119Glu)
|
rs1408795010
|
0.00001
|
NM_000186.4(CFH):c.3358A>T (p.Ile1120Phe)
|
rs771435716
|
0.00001
|
NM_000186.4(CFH):c.3581G>A (p.Gly1194Asp)
|
rs761877050
|
0.00001
|
NM_000186.4(CFH):c.506A>G (p.His169Arg)
|
rs768647508
|
0.00001
|
NM_000186.4(CFH):c.524G>C (p.Arg175Pro)
|
rs139360826
|
0.00001
|
NM_000186.4(CFH):c.727T>C (p.Tyr243His)
|
rs748692496
|
0.00001
|
NM_000186.4(CFH):c.889G>A (p.Gly297Ser)
|
rs764573258
|
0.00001
|
NM_000188.3(HK1):c.2165G>A (p.Arg722Lys)
|
rs1172702857
|
0.00001
|
NM_000188.3(HK1):c.2519C>T (p.Ala840Val)
|
rs373871387
|
0.00001
|
NM_000193.4(SHH):c.86G>C (p.Gly29Ala)
|
rs1313527438
|
0.00001
|
NM_000253.4(MTTP):c.-205G>A
|
rs886058953
|
0.00001
|
NM_000254.3(MTR):c.1074T>C (p.Ser358=)
|
rs1430063160
|
0.00001
|
NM_000254.3(MTR):c.127C>T (p.Arg43Trp)
|
rs757720946
|
0.00001
|
NM_000254.3(MTR):c.1483A>G (p.Met495Val)
|
rs775291294
|
0.00001
|
NM_000254.3(MTR):c.1583G>C (p.Gly528Ala)
|
rs1663831931
|
0.00001
|
NM_000254.3(MTR):c.1651A>G (p.Asn551Asp)
|
rs151031178
|
0.00001
|
NM_000254.3(MTR):c.1657T>C (p.Tyr553His)
|
rs767156705
|
0.00001
|
NM_000254.3(MTR):c.1954-6A>G
|
rs1553321372
|
0.00001
|
NM_000254.3(MTR):c.2032G>T (p.Ala678Ser)
|
rs759130222
|
0.00001
|
NM_000254.3(MTR):c.2294T>C (p.Val765Ala)
|
rs931972359
|
0.00001
|
NM_000254.3(MTR):c.2304+4A>G
|
rs778478523
|
0.00001
|
NM_000254.3(MTR):c.2329C>G (p.Leu777Val)
|
rs758778075
|
0.00001
|
NM_000254.3(MTR):c.2411T>C (p.Ile804Thr)
|
rs147387989
|
0.00001
|
NM_000254.3(MTR):c.2422G>A (p.Val808Ile)
|
rs745749921
|
0.00001
|
NM_000254.3(MTR):c.2594+3A>G
|
rs757969059
|
0.00001
|
NM_000254.3(MTR):c.2708A>G (p.Asp903Gly)
|
rs149165917
|
0.00001
|
NM_000254.3(MTR):c.2891A>G (p.Tyr964Cys)
|
rs1416094227
|
0.00001
|
NM_000254.3(MTR):c.2915A>G (p.Tyr972Cys)
|
rs773190246
|
0.00001
|
NM_000254.3(MTR):c.2966C>T (p.Pro989Leu)
|
rs772400119
|
0.00001
|
NM_000254.3(MTR):c.2999A>G (p.Lys1000Arg)
|
rs755595867
|
0.00001
|
NM_000254.3(MTR):c.3037G>A (p.Ala1013Thr)
|
rs1474412109
|
0.00001
|
NM_000254.3(MTR):c.3142G>A (p.Ala1048Thr)
|
rs756706737
|
0.00001
|
NM_000254.3(MTR):c.3205-196A>G
|
rs544410324
|
0.00001
|
NM_000254.3(MTR):c.325G>A (p.Gly109Ser)
|
rs746836137
|
0.00001
|
NM_000254.3(MTR):c.3281G>A (p.Arg1094His)
|
rs764803333
|
0.00001
|
NM_000254.3(MTR):c.3383C>T (p.Ala1128Val)
|
rs759436870
|
0.00001
|
NM_000254.3(MTR):c.340-3T>C
|
rs772591750
|
0.00001
|
NM_000254.3(MTR):c.3430A>G (p.Arg1144Gly)
|
rs781725496
|
0.00001
|
NM_000254.3(MTR):c.3460G>A (p.Gly1154Ser)
|
rs1188027807
|
0.00001
|
NM_000254.3(MTR):c.3463A>G (p.Ser1155Gly)
|
rs369154176
|
0.00001
|
NM_000254.3(MTR):c.347G>A (p.Arg116Gln)
|
rs1414249194
|
0.00001
|
NM_000254.3(MTR):c.3490C>T (p.Arg1164Cys)
|
rs761657622
|
0.00001
|
NM_000254.3(MTR):c.3704A>G (p.Lys1235Arg)
|
rs779312137
|
0.00001
|
NM_000254.3(MTR):c.443C>T (p.Pro148Leu)
|
rs757429726
|
0.00001
|
NM_000254.3(MTR):c.586A>G (p.Ile196Val)
|
rs776426879
|
0.00001
|
NM_000254.3(MTR):c.712G>A (p.Gly238Arg)
|
rs934470002
|
0.00001
|
NM_000254.3(MTR):c.755A>G (p.Glu252Gly)
|
rs758776466
|
0.00001
|
NM_000289.6(PFKM):c.*532A>G
|
rs927525907
|
0.00001
|
NM_000289.6(PFKM):c.1005A>G (p.Val335=)
|
rs1454843075
|
0.00001
|
NM_000289.6(PFKM):c.1033C>T (p.Arg345Cys)
|
rs762357629
|
0.00001
|
NM_000289.6(PFKM):c.1109C>G (p.Ala370Gly)
|
rs531875148
|
0.00001
|
NM_000289.6(PFKM):c.1127G>A (p.Arg376Gln)
|
rs187131358
|
0.00001
|
NM_000289.6(PFKM):c.1242C>G (p.Gly414=)
|
rs886049454
|
0.00001
|
NM_000289.6(PFKM):c.1412+6T>C
|
rs1417385697
|
0.00001
|
NM_000289.6(PFKM):c.1540C>A (p.Gln514Lys)
|
rs1487607332
|
0.00001
|
NM_000289.6(PFKM):c.2096G>A (p.Arg699Gln)
|
rs770276917
|
0.00001
|
NM_000289.6(PFKM):c.2126G>A (p.Cys709Tyr)
|
rs373055147
|
0.00001
|
NM_000289.6(PFKM):c.2338G>A (p.Val780Ile)
|
rs537327893
|
0.00001
|
NM_000289.6(PFKM):c.289G>A (p.Gly97Arg)
|
rs768553877
|
0.00001
|
NM_000289.6(PFKM):c.320A>G (p.Lys107Arg)
|
rs763214745
|
0.00001
|
NM_000289.6(PFKM):c.634T>C (p.Cys212Arg)
|
rs755956424
|
0.00001
|
NM_000289.6(PFKM):c.800T>C (p.Ile267Thr)
|
rs748720104
|
0.00001
|
NM_000289.6(PFKM):c.864A>G (p.Gly288=)
|
rs1313998695
|
0.00001
|
NM_000289.6(PFKM):c.935T>C (p.Leu312Pro)
|
rs1251670627
|
0.00001
|
NM_000289.6(PFKM):c.965T>C (p.Met322Thr)
|
rs1225653591
|
0.00001
|
NM_000298.6(PKLR):c.*1277G>A
|
rs917244300
|
0.00001
|
NM_000298.6(PKLR):c.*275C>T
|
rs886045350
|
0.00001
|
NM_000298.6(PKLR):c.*779C>A
|
rs886045348
|
0.00001
|
NM_000298.6(PKLR):c.-31G>A
|
rs778164541
|
0.00001
|
NM_000298.6(PKLR):c.1081A>G (p.Asn361Asp)
|
rs765903674
|
0.00001
|
NM_000298.6(PKLR):c.1088C>A (p.Ala363Glu)
|
rs763466930
|
0.00001
|
NM_000298.6(PKLR):c.1217G>A (p.Gly406Glu)
|
rs779817999
|
0.00001
|
NM_000298.6(PKLR):c.1457G>A (p.Arg486Gln)
|
rs768210809
|
0.00001
|
NM_000342.4(SLC4A1):c.*1832G>A
|
rs886052988
|
0.00001
|
NM_000342.4(SLC4A1):c.*356G>C
|
rs1046413791
|
0.00001
|
NM_000342.4(SLC4A1):c.*5C>T
|
rs748428663
|
0.00001
|
NM_000342.4(SLC4A1):c.*624G>A
|
rs988105334
|
0.00001
|
NM_000342.4(SLC4A1):c.-65C>A
|
rs886053001
|
0.00001
|
NM_000342.4(SLC4A1):c.1181T>C (p.Leu394Pro)
|
rs768426818
|
0.00001
|
NM_000342.4(SLC4A1):c.1225G>A (p.Val409Ile)
|
rs201821517
|
0.00001
|
NM_000342.4(SLC4A1):c.1431+13T>G
|
rs747632229
|
0.00001
|
NM_000342.4(SLC4A1):c.1471G>A (p.Val491Met)
|
rs757478694
|
0.00001
|
NM_000342.4(SLC4A1):c.1480G>A (p.Gly494Ser)
|
rs751771382
|
0.00001
|
NM_000342.4(SLC4A1):c.173A>G (p.Tyr58Cys)
|
rs368863744
|
0.00001
|
NM_000342.4(SLC4A1):c.1928C>T (p.Ser643Phe)
|
rs763988041
|
0.00001
|
NM_000342.4(SLC4A1):c.1971C>T (p.Ser657=)
|
rs200107906
|
0.00001
|
NM_000342.4(SLC4A1):c.2185G>A (p.Val729Met)
|
rs775748758
|
0.00001
|
NM_000342.4(SLC4A1):c.2210C>T (p.Ala737Val)
|
rs886052997
|
0.00001
|
NM_000342.4(SLC4A1):c.2387G>C (p.Gly796Ala)
|
rs766885976
|
0.00001
|
NM_000342.4(SLC4A1):c.2482-9C>T
|
rs886052995
|
0.00001
|
NM_000342.4(SLC4A1):c.2612G>A (p.Arg871His)
|
rs781396793
|
0.00001
|
NM_000342.4(SLC4A1):c.2614G>A (p.Val872Ile)
|
rs747337202
|
0.00001
|
NM_000342.4(SLC4A1):c.567C>G (p.Leu189=)
|
rs746103796
|
0.00001
|
NM_000342.4(SLC4A1):c.636A>G (p.Ser212=)
|
rs886053000
|
0.00001
|
NM_000342.4(SLC4A1):c.829G>A (p.Asp277Asn)
|
rs138288425
|
0.00001
|
NM_000355.4(TCN2):c.*329G>A
|
rs779850312
|
0.00001
|
NM_000355.4(TCN2):c.*37C>T
|
rs531866634
|
0.00001
|
NM_000355.4(TCN2):c.*383C>T
|
rs896720175
|
0.00001
|
NM_000355.4(TCN2):c.-67C>T
|
rs1432247695
|
0.00001
|
NM_000355.4(TCN2):c.1084G>C (p.Ala362Pro)
|
rs1237571997
|
0.00001
|
NM_000355.4(TCN2):c.109C>T (p.His37Tyr)
|
rs1326813642
|
0.00001
|
NM_000355.4(TCN2):c.1141T>G (p.Leu381Val)
|
rs2087720823
|
0.00001
|
NM_000355.4(TCN2):c.1163C>T (p.Ala388Val)
|
rs774428161
|
0.00001
|
NM_000355.4(TCN2):c.1168G>A (p.Gly390Arg)
|
rs367605153
|
0.00001
|
NM_000355.4(TCN2):c.1205A>G (p.Asn402Ser)
|
rs749591278
|
0.00001
|
NM_000355.4(TCN2):c.1225A>G (p.Ile409Val)
|
rs371229602
|
0.00001
|
NM_000355.4(TCN2):c.131G>A (p.Arg44Gln)
|
rs770055978
|
0.00001
|
NM_000355.4(TCN2):c.274G>A (p.Asp92Asn)
|
rs528704555
|
0.00001
|
NM_000355.4(TCN2):c.421G>A (p.Ala141Thr)
|
rs762973293
|
0.00001
|
NM_000355.4(TCN2):c.425T>C (p.Ile142Thr)
|
rs200483369
|
0.00001
|
NM_000355.4(TCN2):c.430C>T (p.His144Tyr)
|
rs747296848
|
0.00001
|
NM_000355.4(TCN2):c.459C>T (p.Ser153=)
|
rs201344377
|
0.00001
|
NM_000355.4(TCN2):c.529G>A (p.Asp177Asn)
|
rs773855163
|
0.00001
|
NM_000355.4(TCN2):c.553C>A (p.Pro185Thr)
|
rs759922664
|
0.00001
|
NM_000355.4(TCN2):c.566G>A (p.Gly189Asp)
|
rs777945731
|
0.00001
|
NM_000355.4(TCN2):c.65-6T>A
|
rs1602043415
|
0.00001
|
NM_000355.4(TCN2):c.721G>A (p.Gly241Arg)
|
rs1273929738
|
0.00001
|
NM_000355.4(TCN2):c.766T>G (p.Ser256Ala)
|
rs752978666
|
0.00001
|
NM_000355.4(TCN2):c.899C>T (p.Thr300Ile)
|
rs763836785
|
0.00001
|
NM_000355.4(TCN2):c.931G>A (p.Ala311Thr)
|
rs2087605207
|
0.00001
|
NM_000365.6(TPI1):c.*239C>T
|
rs886049811
|
0.00001
|
NM_000365.6(TPI1):c.*69C>T
|
rs782061169
|
0.00001
|
NM_000365.6(TPI1):c.1A>G (p.Met1Val)
|
rs201432576
|
0.00001
|
NM_000365.6(TPI1):c.569G>A (p.Arg190Gln)
|
rs1565538350
|
0.00001
|
NM_000365.6(TPI1):c.737A>G (p.Asn246Ser)
|
rs781891192
|
0.00001
|
NM_000373.4(UMPS):c.*1080A>G
|
rs780894047
|
0.00001
|
NM_000373.4(UMPS):c.*1249C>G
|
rs1355056450
|
0.00001
|
NM_000373.4(UMPS):c.*1418T>A
|
rs886057874
|
0.00001
|
NM_000373.4(UMPS):c.*1535G>A
|
rs886057875
|
0.00001
|
NM_000373.4(UMPS):c.*1840A>G
|
rs183441859
|
0.00001
|
NM_000373.4(UMPS):c.*2197A>G
|
rs1443804306
|
0.00001
|
NM_000373.4(UMPS):c.*2632C>A
|
rs886057879
|
0.00001
|
NM_000373.4(UMPS):c.*2741C>T
|
rs2063604796
|
0.00001
|
NM_000373.4(UMPS):c.*3083G>T
|
rs886057887
|
0.00001
|
NM_000373.4(UMPS):c.*3193T>C
|
rs886057889
|
0.00001
|
NM_000373.4(UMPS):c.*3258A>C
|
rs886057890
|
0.00001
|
NM_000373.4(UMPS):c.*3495T>C
|
rs886057891
|
0.00001
|
NM_000373.4(UMPS):c.*3512C>G
|
rs997779825
|
0.00001
|
NM_000373.4(UMPS):c.*3594A>G
|
rs546056717
|
0.00001
|
NM_000373.4(UMPS):c.*4432A>G
|
rs1181472642
|
0.00001
|
NM_000373.4(UMPS):c.*4782G>A
|
rs2063624147
|
0.00001
|
NM_000373.4(UMPS):c.*4862A>G
|
rs886057898
|
0.00001
|
NM_000373.4(UMPS):c.*5027A>G
|
rs886057899
|
0.00001
|
NM_000373.4(UMPS):c.*5085C>A
|
rs929552121
|
0.00001
|
NM_000373.4(UMPS):c.*5133del
|
rs886057901
|
0.00001
|
NM_000373.4(UMPS):c.*516A>G
|
rs1393987054
|
0.00001
|
NM_000373.4(UMPS):c.768A>G (p.Leu256=)
|
rs780392037
|
0.00001
|
NM_000375.3(UROS):c.*56T>C
|
rs1436191296
|
0.00001
|
NM_000375.3(UROS):c.*92T>G
|
rs887568142
|
0.00001
|
NM_000375.3(UROS):c.169G>A (p.Gly57Arg)
|
rs200322717
|
0.00001
|
NM_000375.3(UROS):c.244G>T (p.Val82Phe)
|
rs121908016
|
0.00001
|
NM_000375.3(UROS):c.327A>C (p.Lys109Asn)
|
rs369561042
|
0.00001
|
NM_000375.3(UROS):c.53C>T (p.Pro18Leu)
|
rs766540245
|
0.00001
|
NM_000384.3(APOB):c.*207C>A
|
rs886055566
|
0.00001
|
NM_000384.3(APOB):c.11563A>G (p.Ile3855Val)
|
rs762255105
|
0.00001
|
NM_000384.3(APOB):c.12219C>T (p.Asn4073=)
|
rs886055573
|
0.00001
|
NM_000384.3(APOB):c.12983A>G (p.Tyr4328Cys)
|
rs886055572
|
0.00001
|
NM_000384.3(APOB):c.13601A>G (p.Tyr4534Cys)
|
rs886055571
|
0.00001
|
NM_000384.3(APOB):c.4216+4A>G
|
rs886055588
|
0.00001
|
NM_000398.7(CYB5R3):c.719A>G (p.Asp240Gly)
|
rs121965018
|
0.00001
|
NM_000476.3(AK1):c.90G>T (p.Gln30His)
|
rs141933637
|
0.00001
|
NM_000518.4(HBB):c.371C>A (p.Thr124Asn)
|
rs33935383
|
0.00001
|
NM_000518.4(HBB):c.410G>A (p.Gly137Asp)
|
rs33949486
|
0.00001
|
NM_000518.4(HBB):c.44T>C (p.Leu15Pro)
|
rs33935445
|
0.00001
|
NM_000518.5(HBB):c.*18C>A
|
rs1348310843
|
0.00001
|
NM_000518.5(HBB):c.*53C>A
|
rs886048393
|
0.00001
|
NM_000518.5(HBB):c.*62A>G
|
rs1046868746
|
0.00001
|
NM_000518.5(HBB):c.-100G>A
|
rs281864524
|
0.00001
|
NM_000518.5(HBB):c.-15C>A
|
rs193922550
|
0.00001
|
NM_000518.5(HBB):c.-4C>T
|
rs1035531758
|
0.00001
|
NM_000518.5(HBB):c.123G>T (p.Arg41Ser)
|
rs33918778
|
0.00001
|
NM_000518.5(HBB):c.274C>T (p.Leu92=)
|
rs769583496
|
0.00001
|
NM_000518.5(HBB):c.309C>A (p.Asn103Lys)
|
rs34227486
|
0.00001
|
NM_000518.5(HBB):c.384G>C (p.Gln128His)
|
rs1437278962
|
0.00001
|
NM_000617.3(SLC11A2):c.*1367T>C
|
rs1235162595
|
0.00001
|
NM_000617.3(SLC11A2):c.*1615T>C
|
rs557225035
|
0.00001
|
NM_000617.3(SLC11A2):c.*32A>G
|
rs886049565
|
0.00001
|
NM_000617.3(SLC11A2):c.*985G>A
|
rs886049562
|
0.00001
|
NM_000617.3(SLC11A2):c.*986C>A
|
rs886049561
|
0.00001
|
NM_000617.3(SLC11A2):c.-96C>T
|
rs747408183
|
0.00001
|
NM_000617.3(SLC11A2):c.1197G>C (p.Glu399Asp)
|
rs121918365
|
0.00001
|
NM_000617.3(SLC11A2):c.1511A>G (p.His504Arg)
|
rs1229345464
|
0.00001
|
NM_000617.3(SLC11A2):c.1596A>C (p.Ala532=)
|
rs760783598
|
0.00001
|
NM_000617.3(SLC11A2):c.1655C>T (p.Thr552Ile)
|
rs1469622244
|
0.00001
|
NM_000617.3(SLC11A2):c.647C>T (p.Thr216Ile)
|
rs886049567
|
0.00001
|
NM_000619.3(IFNG):c.*231T>C
|
rs1413472447
|
0.00001
|
NM_000619.3(IFNG):c.-34T>G
|
rs752463155
|
0.00001
|
NM_000619.3(IFNG):c.431C>T (p.Ser144Leu)
|
rs753611452
|
0.00001
|
NM_000637.5(GSR):c.307G>A (p.Val103Met)
|
rs745404470
|
0.00001
|
NM_000969.5(RPL5):c.202C>T (p.Arg68Cys)
|
rs750383596
|
0.00001
|
NM_000969.5(RPL5):c.229G>A (p.Ala77Thr)
|
rs752867126
|
0.00001
|
NM_000969.5(RPL5):c.235T>A (p.Tyr79Asn)
|
rs1043234543
|
0.00001
|
NM_000969.5(RPL5):c.266A>G (p.Lys89Arg)
|
rs1314815534
|
0.00001
|
NM_000969.5(RPL5):c.587G>A (p.Arg196Gln)
|
rs771013653
|
0.00001
|
NM_000969.5(RPL5):c.589A>G (p.Lys197Glu)
|
rs776644546
|
0.00001
|
NM_000969.5(RPL5):c.625C>T (p.Arg209Cys)
|
rs770095159
|
0.00001
|
NM_000969.5(RPL5):c.642A>T (p.Glu214Asp)
|
rs764296257
|
0.00001
|
NM_000969.5(RPL5):c.666G>C (p.Gln222His)
|
rs767163981
|
0.00001
|
NM_000969.5(RPL5):c.803G>A (p.Arg268His)
|
rs765443248
|
0.00001
|
NM_000975.5(RPL11):c.23A>G (p.Lys8Arg)
|
rs760498453
|
0.00001
|
NM_000975.5(RPL11):c.264+9A>T
|
rs777041270
|
0.00001
|
NM_000975.5(RPL11):c.287A>G (p.Lys96Arg)
|
rs369949969
|
0.00001
|
NM_000975.5(RPL11):c.306T>C (p.Thr102=)
|
rs886046309
|
0.00001
|
NM_000975.5(RPL11):c.454G>A (p.Gly152Arg)
|
rs766991539
|
0.00001
|
NM_000975.5(RPL11):c.5C>T (p.Ala2Val)
|
rs768850297
|
0.00001
|
NM_000987.5(RPL26):c.259C>T (p.Arg87Trp)
|
rs878854147
|
0.00001
|
NM_000987.5(RPL26):c.97C>T (p.Pro33Ser)
|
rs747386536
|
0.00001
|
NM_000996.4(RPL35A):c.-31C>T
|
rs766043927
|
0.00001
|
NM_000996.4(RPL35A):c.101A>T (p.Tyr34Phe)
|
rs773889184
|
0.00001
|
NM_000996.4(RPL35A):c.113A>G (p.Glu38Gly)
|
rs1401148284
|
0.00001
|
NM_000996.4(RPL35A):c.253C>G (p.Arg85Gly)
|
rs773689278
|
0.00001
|
NM_000996.4(RPL35A):c.270C>T (p.Ser90=)
|
rs772084930
|
0.00001
|
NM_000996.4(RPL35A):c.28A>G (p.Ile10Val)
|
rs553548757
|
0.00001
|
NM_000996.4(RPL35A):c.35C>T (p.Ala12Val)
|
rs780895868
|
0.00001
|
NM_000996.4(RPL35A):c.55C>T (p.Arg19Trp)
|
rs1349665099
|
0.00001
|
NM_000996.4(RPL35A):c.59A>G (p.Asn20Ser)
|
rs1283030430
|
0.00001
|
NM_001011.4(RPS7):c.-13C>T
|
rs765604580
|
0.00001
|
NM_001011.4(RPS7):c.137C>T (p.Thr46Met)
|
rs1006838420
|
0.00001
|
NM_001011.4(RPS7):c.356+3G>A
|
rs1161877660
|
0.00001
|
NM_001011.4(RPS7):c.39C>T (p.Gly13=)
|
rs746686516
|
0.00001
|
NM_001011.4(RPS7):c.433C>T (p.Arg145Cys)
|
rs200400906
|
0.00001
|
NM_001011.4(RPS7):c.436G>A (p.Val146Ile)
|
rs367770078
|
0.00001
|
NM_001011.4(RPS7):c.452G>T (p.Ser151Ile)
|
rs1461848852
|
0.00001
|
NM_001011.4(RPS7):c.580T>C (p.Leu194=)
|
rs1480952113
|
0.00001
|
NM_001011.4(RPS7):c.77C>T (p.Ala26Val)
|
rs939123022
|
0.00001
|
NM_001014.5(RPS10):c.164G>A (p.Arg55Gln)
|
rs1765898082
|
0.00001
|
NM_001014.5(RPS10):c.40C>T (p.Leu14Phe)
|
rs1426463647
|
0.00001
|
NM_001014.5(RPS10):c.425C>T (p.Ala142Val)
|
rs1765648018
|
0.00001
|
NM_001018113.3(FANCB):c.1105A>G (p.Ser369Gly)
|
rs1422244944
|
0.00001
|
NM_001018113.3(FANCB):c.1120T>C (p.Cys374Arg)
|
rs781251036
|
0.00001
|
NM_001018113.3(FANCB):c.113C>T (p.Thr38Ile)
|
rs2092465105
|
0.00001
|
NM_001018113.3(FANCB):c.1160G>A (p.Arg387His)
|
rs757202355
|
0.00001
|
NM_001018113.3(FANCB):c.1179T>C (p.Pro393=)
|
rs764156696
|
0.00001
|
NM_001018113.3(FANCB):c.1226G>A (p.Arg409Gln)
|
rs753030842
|
0.00001
|
NM_001018113.3(FANCB):c.1265C>T (p.Ser422Phe)
|
rs1057515805
|
0.00001
|
NM_001018113.3(FANCB):c.1318G>A (p.Ala440Thr)
|
rs1313938907
|
0.00001
|
NM_001018113.3(FANCB):c.1342C>A (p.Pro448Thr)
|
rs867778700
|
0.00001
|
NM_001018113.3(FANCB):c.1441C>T (p.Arg481Cys)
|
rs2092396737
|
0.00001
|
NM_001018113.3(FANCB):c.1496T>C (p.Leu499Pro)
|
rs935080919
|
0.00001
|
NM_001018113.3(FANCB):c.1582A>G (p.Ile528Val)
|
rs749342600
|
0.00001
|
NM_001018113.3(FANCB):c.1606C>T (p.Pro536Ser)
|
rs773313492
|
0.00001
|
NM_001018113.3(FANCB):c.1610C>T (p.Ala537Val)
|
rs752804063
|
0.00001
|
NM_001018113.3(FANCB):c.1670A>T (p.Asp557Val)
|
rs1336185048
|
0.00001
|
NM_001018113.3(FANCB):c.1719G>T (p.Glu573Asp)
|
rs773221142
|
0.00001
|
NM_001018113.3(FANCB):c.1736C>T (p.Thr579Ile)
|
rs771950360
|
0.00001
|
NM_001018113.3(FANCB):c.1763T>C (p.Leu588Ser)
|
rs1298952108
|
0.00001
|
NM_001018113.3(FANCB):c.1785C>G (p.Cys595Trp)
|
rs1317998053
|
0.00001
|
NM_001018113.3(FANCB):c.17C>A (p.Ala6Glu)
|
rs780032769
|
0.00001
|
NM_001018113.3(FANCB):c.183C>T (p.Ser61=)
|
rs1317100453
|
0.00001
|
NM_001018113.3(FANCB):c.1957G>A (p.Ala653Thr)
|
rs1220308530
|
0.00001
|
NM_001018113.3(FANCB):c.1972T>A (p.Ser658Thr)
|
rs1440633578
|
0.00001
|
NM_001018113.3(FANCB):c.2015T>C (p.Met672Thr)
|
rs377268147
|
0.00001
|
NM_001018113.3(FANCB):c.2019G>C (p.Lys673Asn)
|
rs1416043928
|
0.00001
|
NM_001018113.3(FANCB):c.2098T>C (p.Phe700Leu)
|
rs1232355920
|
0.00001
|
NM_001018113.3(FANCB):c.2117C>T (p.Thr706Ile)
|
rs1278850689
|
0.00001
|
NM_001018113.3(FANCB):c.2144G>T (p.Gly715Val)
|
rs1389308960
|
0.00001
|
NM_001018113.3(FANCB):c.2159A>G (p.Tyr720Cys)
|
rs758926056
|
0.00001
|
NM_001018113.3(FANCB):c.2173A>G (p.Thr725Ala)
|
rs765112491
|
0.00001
|
NM_001018113.3(FANCB):c.2218A>G (p.Ile740Val)
|
rs746453967
|
0.00001
|
NM_001018113.3(FANCB):c.2293A>G (p.Lys765Glu)
|
rs767721906
|
0.00001
|
NM_001018113.3(FANCB):c.2420A>C (p.Glu807Ala)
|
rs1020168794
|
0.00001
|
NM_001018113.3(FANCB):c.2438G>T (p.Arg813Ile)
|
rs995483698
|
0.00001
|
NM_001018113.3(FANCB):c.2521A>G (p.Lys841Glu)
|
rs767194178
|
0.00001
|
NM_001018113.3(FANCB):c.2530G>A (p.Glu844Lys)
|
rs1247789556
|
0.00001
|
NM_001018113.3(FANCB):c.341G>A (p.Ser114Asn)
|
rs1254494594
|
0.00001
|
NM_001018113.3(FANCB):c.361C>T (p.Arg121Cys)
|
rs145928137
|
0.00001
|
NM_001018113.3(FANCB):c.440T>C (p.Val147Ala)
|
rs757074045
|
0.00001
|
NM_001018113.3(FANCB):c.521G>A (p.Gly174Glu)
|
rs1316359856
|
0.00001
|
NM_001018113.3(FANCB):c.526A>T (p.Ile176Phe)
|
rs1208436363
|
0.00001
|
NM_001018113.3(FANCB):c.52T>C (p.Tyr18His)
|
rs996732250
|
0.00001
|
NM_001018113.3(FANCB):c.587G>A (p.Cys196Tyr)
|
rs1366041068
|
0.00001
|
NM_001018113.3(FANCB):c.652G>C (p.Glu218Gln)
|
rs747819351
|
0.00001
|
NM_001018113.3(FANCB):c.662A>G (p.Glu221Gly)
|
rs1265222877
|
0.00001
|
NM_001018113.3(FANCB):c.800C>T (p.Ser267Leu)
|
rs374217132
|
0.00001
|
NM_001018113.3(FANCB):c.814A>G (p.Thr272Ala)
|
rs769701122
|
0.00001
|
NM_001018113.3(FANCB):c.898G>T (p.Val300Phe)
|
rs757610875
|
0.00001
|
NM_001018113.3(FANCB):c.910A>G (p.Ile304Val)
|
rs754238911
|
0.00001
|
NM_001018113.3(FANCB):c.914C>A (p.Ser305Tyr)
|
rs1057515808
|
0.00001
|
NM_001018113.3(FANCB):c.923C>T (p.Ala308Val)
|
rs1242186487
|
0.00001
|
NM_001018113.3(FANCB):c.959C>A (p.Ala320Asp)
|
rs1246382467
|
0.00001
|
NM_001018115.3(FANCD2):c.1132A>G (p.Lys378Glu)
|
rs1171804978
|
0.00001
|
NM_001018115.3(FANCD2):c.1235T>C (p.Ile412Thr)
|
rs148255762
|
0.00001
|
NM_001018115.3(FANCD2):c.1250T>C (p.Leu417Pro)
|
rs1369011648
|
0.00001
|
NM_001018115.3(FANCD2):c.1278+6T>C
|
rs779894573
|
0.00001
|
NM_001018115.3(FANCD2):c.1279G>T (p.Val427Phe)
|
rs529893298
|
0.00001
|
NM_001018115.3(FANCD2):c.1310C>T (p.Ser437Leu)
|
rs1349417700
|
0.00001
|
NM_001018115.3(FANCD2):c.1325T>G (p.Leu442Trp)
|
rs1400034764
|
0.00001
|
NM_001018115.3(FANCD2):c.1343A>G (p.Gln448Arg)
|
rs777539464
|
0.00001
|
NM_001018115.3(FANCD2):c.1366C>A (p.Leu456Ile)
|
rs780374375
|
0.00001
|
NM_001018115.3(FANCD2):c.1400C>T (p.Thr467Met)
|
rs760246372
|
0.00001
|
NM_001018115.3(FANCD2):c.1465G>A (p.Val489Ile)
|
rs761454597
|
0.00001
|
NM_001018115.3(FANCD2):c.1480G>T (p.Asp494Tyr)
|
rs1312307141
|
0.00001
|
NM_001018115.3(FANCD2):c.1516G>A (p.Ala506Thr)
|
rs767699213
|
0.00001
|
NM_001018115.3(FANCD2):c.1519A>G (p.Met507Val)
|
rs376708399
|
0.00001
|
NM_001018115.3(FANCD2):c.1589G>A (p.Arg530Gln)
|
rs1249790407
|
0.00001
|
NM_001018115.3(FANCD2):c.1699G>A (p.Val567Ile)
|
rs773483393
|
0.00001
|
NM_001018115.3(FANCD2):c.1830G>A (p.Val610=)
|
rs1447943740
|
0.00001
|
NM_001018115.3(FANCD2):c.1835C>T (p.Ser612Phe)
|
rs760516842
|
0.00001
|
NM_001018115.3(FANCD2):c.1864G>A (p.Glu622Lys)
|
rs375951862
|
0.00001
|
NM_001018115.3(FANCD2):c.1895A>G (p.Tyr632Cys)
|
rs770231582
|
0.00001
|
NM_001018115.3(FANCD2):c.1903T>C (p.Phe635Leu)
|
rs1179966779
|
0.00001
|
NM_001018115.3(FANCD2):c.1912C>G (p.Leu638Val)
|
rs760324486
|
0.00001
|
NM_001018115.3(FANCD2):c.1993G>A (p.Val665Ile)
|
rs774405864
|
0.00001
|
NM_001018115.3(FANCD2):c.2004C>G (p.Ser668=)
|
rs138189144
|
0.00001
|
NM_001018115.3(FANCD2):c.2016G>A (p.Pro672=)
|
rs552206789
|
0.00001
|
NM_001018115.3(FANCD2):c.2170T>G (p.Leu724Val)
|
rs201243424
|
0.00001
|
NM_001018115.3(FANCD2):c.2179C>T (p.Pro727Ser)
|
rs911843298
|
0.00001
|
NM_001018115.3(FANCD2):c.2203C>T (p.Arg735Trp)
|
rs752621186
|
0.00001
|
NM_001018115.3(FANCD2):c.2204G>A (p.Arg735Gln)
|
rs755975980
|
0.00001
|
NM_001018115.3(FANCD2):c.2234A>G (p.His745Arg)
|
rs2087692676
|
0.00001
|
NM_001018115.3(FANCD2):c.2269+3A>G
|
rs1246708998
|
0.00001
|
NM_001018115.3(FANCD2):c.2270A>G (p.Asp757Gly)
|
rs779060030
|
0.00001
|
NM_001018115.3(FANCD2):c.2351C>T (p.Ser784Phe)
|
rs1398046806
|
0.00001
|
NM_001018115.3(FANCD2):c.2366C>T (p.Thr789Ile)
|
rs1263342232
|
0.00001
|
NM_001018115.3(FANCD2):c.2376G>C (p.Trp792Cys)
|
rs752013429
|
0.00001
|
NM_001018115.3(FANCD2):c.2420A>T (p.Glu807Val)
|
rs1305213202
|
0.00001
|
NM_001018115.3(FANCD2):c.2433G>C (p.Lys811Asn)
|
rs769811062
|
0.00001
|
NM_001018115.3(FANCD2):c.251G>A (p.Arg84Lys)
|
rs375506300
|
0.00001
|
NM_001018115.3(FANCD2):c.2632A>C (p.Lys878Gln)
|
rs780018258
|
0.00001
|
NM_001018115.3(FANCD2):c.2715+20C>G
|
rs199714316
|
0.00001
|
NM_001018115.3(FANCD2):c.2730G>T (p.Lys910Asn)
|
rs369241246
|
0.00001
|
NM_001018115.3(FANCD2):c.2745_2747del (p.Leu918del)
|
rs1232274352
|
0.00001
|
NM_001018115.3(FANCD2):c.2810A>G (p.His937Arg)
|
rs746389067
|
0.00001
|
NM_001018115.3(FANCD2):c.2860-6T>A
|
rs772531991
|
0.00001
|
NM_001018115.3(FANCD2):c.289G>A (p.Val97Ile)
|
rs1480379325
|
0.00001
|
NM_001018115.3(FANCD2):c.2926C>A (p.Leu976Met)
|
rs753809948
|
0.00001
|
NM_001018115.3(FANCD2):c.2942C>T (p.Thr981Ile)
|
rs1468736218
|
0.00001
|
NM_001018115.3(FANCD2):c.2976+5G>A
|
rs748710535
|
0.00001
|
NM_001018115.3(FANCD2):c.2989C>T (p.Arg997Trp)
|
rs587778330
|
0.00001
|
NM_001018115.3(FANCD2):c.2990G>A (p.Arg997Gln)
|
rs587778331
|
0.00001
|
NM_001018115.3(FANCD2):c.3224+8T>A
|
rs1412513898
|
0.00001
|
NM_001018115.3(FANCD2):c.3248A>G (p.Asn1083Ser)
|
rs1180577651
|
0.00001
|
NM_001018115.3(FANCD2):c.3285T>C (p.Ser1095=)
|
rs759252565
|
0.00001
|
NM_001018115.3(FANCD2):c.3313C>G (p.Gln1105Glu)
|
rs1694168766
|
0.00001
|
NM_001018115.3(FANCD2):c.3347A>G (p.His1116Arg)
|
rs548876750
|
0.00001
|
NM_001018115.3(FANCD2):c.3400C>T (p.Leu1134Phe)
|
rs587778332
|
0.00001
|
NM_001018115.3(FANCD2):c.3416T>C (p.Met1139Thr)
|
rs755205321
|
0.00001
|
NM_001018115.3(FANCD2):c.3418G>A (p.Val1140Ile)
|
rs988476435
|
0.00001
|
NM_001018115.3(FANCD2):c.3527A>G (p.Asn1176Ser)
|
rs764205355
|
0.00001
|
NM_001018115.3(FANCD2):c.3558C>G (p.Leu1186=)
|
rs745765337
|
0.00001
|
NM_001018115.3(FANCD2):c.3561-4G>T
|
rs1694400747
|
0.00001
|
NM_001018115.3(FANCD2):c.3607A>T (p.Ile1203Phe)
|
rs373757862
|
0.00001
|
NM_001018115.3(FANCD2):c.3638A>G (p.Asn1213Ser)
|
rs771903324
|
0.00001
|
NM_001018115.3(FANCD2):c.3639C>G (p.Asn1213Lys)
|
rs780098296
|
0.00001
|
NM_001018115.3(FANCD2):c.3645T>A (p.Pro1215=)
|
rs1168183069
|
0.00001
|
NM_001018115.3(FANCD2):c.3646A>G (p.Lys1216Glu)
|
rs367552677
|
0.00001
|
NM_001018115.3(FANCD2):c.3706C>T (p.Arg1236Cys)
|
rs771078251
|
0.00001
|
NM_001018115.3(FANCD2):c.3708T>C (p.Arg1236=)
|
rs760054945
|
0.00001
|
NM_001018115.3(FANCD2):c.3710T>C (p.Val1237Ala)
|
rs767806932
|
0.00001
|
NM_001018115.3(FANCD2):c.3751C>G (p.Pro1251Ala)
|
rs568515612
|
0.00001
|
NM_001018115.3(FANCD2):c.3770C>T (p.Ser1257Leu)
|
rs374940277
|
0.00001
|
NM_001018115.3(FANCD2):c.3772C>G (p.Gln1258Glu)
|
rs994778998
|
0.00001
|
NM_001018115.3(FANCD2):c.3775C>A (p.Gln1259Lys)
|
rs1407465957
|
0.00001
|
NM_001018115.3(FANCD2):c.382G>T (p.Gly128Cys)
|
rs772201181
|
0.00001
|
NM_001018115.3(FANCD2):c.38A>G (p.Lys13Arg)
|
rs756078235
|
0.00001
|
NM_001018115.3(FANCD2):c.4048G>A (p.Asp1350Asn)
|
rs772169028
|
0.00001
|
NM_001018115.3(FANCD2):c.4133A>G (p.Asn1378Ser)
|
rs1452379242
|
0.00001
|
NM_001018115.3(FANCD2):c.4137T>A (p.Asn1379Lys)
|
rs752376206
|
0.00001
|
NM_001018115.3(FANCD2):c.4163A>G (p.Asn1388Ser)
|
rs745472884
|
0.00001
|
NM_001018115.3(FANCD2):c.4177G>A (p.Asp1393Asn)
|
rs1273669064
|
0.00001
|
NM_001018115.3(FANCD2):c.4189G>A (p.Glu1397Lys)
|
rs753272541
|
0.00001
|
NM_001018115.3(FANCD2):c.4196T>C (p.Ile1399Thr)
|
rs1369071910
|
0.00001
|
NM_001018115.3(FANCD2):c.4233G>C (p.Glu1411Asp)
|
rs61753270
|
0.00001
|
NM_001018115.3(FANCD2):c.4281+121C>T
|
rs764865805
|
0.00001
|
NM_001018115.3(FANCD2):c.4281+179C>T
|
rs370459744
|
0.00001
|
NM_001018115.3(FANCD2):c.4281+22_4281+29del
|
rs878855172
|
0.00001
|
NM_001018115.3(FANCD2):c.4281+525A>G
|
rs886057695
|
0.00001
|
NM_001018115.3(FANCD2):c.4281+562C>A
|
rs550613588
|
0.00001
|
NM_001018115.3(FANCD2):c.4281+69G>A
|
rs754606069
|
0.00001
|
NM_001018115.3(FANCD2):c.4281+71G>A
|
rs568997706
|
0.00001
|
NM_001018115.3(FANCD2):c.4281+77C>T
|
rs748421381
|
0.00001
|
NM_001018115.3(FANCD2):c.4281+91G>A
|
rs771414227
|
0.00001
|
NM_001018115.3(FANCD2):c.4297G>A (p.Glu1433Lys)
|
rs755911397
|
0.00001
|
NM_001018115.3(FANCD2):c.439-3T>C
|
rs771998947
|
0.00001
|
NM_001018115.3(FANCD2):c.461T>C (p.Phe154Ser)
|
rs200668378
|
0.00001
|
NM_001018115.3(FANCD2):c.491+1G>A
|
rs943009372
|
0.00001
|
NM_001018115.3(FANCD2):c.521G>A (p.Arg174Gln)
|
rs41291203
|
0.00001
|
NM_001018115.3(FANCD2):c.552C>T (p.Asp184=)
|
rs2086806957
|
0.00001
|
NM_001018115.3(FANCD2):c.586A>G (p.Ile196Val)
|
rs779216164
|
0.00001
|
NM_001018115.3(FANCD2):c.58G>A (p.Ala20Thr)
|
rs1338392055
|
0.00001
|
NM_001018115.3(FANCD2):c.65-3C>T
|
rs1461324891
|
0.00001
|
NM_001018115.3(FANCD2):c.704T>C (p.Leu235Pro)
|
rs760574880
|
0.00001
|
NM_001018115.3(FANCD2):c.782A>T (p.Lys261Met)
|
rs778289599
|
0.00001
|
NM_001018115.3(FANCD2):c.805A>C (p.Lys269Gln)
|
rs747977469
|
0.00001
|
NM_001018115.3(FANCD2):c.812C>T (p.Ser271Leu)
|
rs766821340
|
0.00001
|
NM_001018115.3(FANCD2):c.908A>G (p.Glu303Gly)
|
rs367824549
|
0.00001
|
NM_001018115.3(FANCD2):c.976A>G (p.Lys326Glu)
|
rs183778817
|
0.00001
|
NM_001022.3(RPS19):c.-139C>T
|
rs886054467
|
0.00001
|
NM_001022.3(RPS19):c.-339T>C
|
rs886054465
|
0.00001
|
NM_001022.4(RPS19):c.-1+14C>T
|
rs886054469
|
0.00001
|
NM_001022.4(RPS19):c.128A>G (p.Lys43Arg)
|
rs1400674746
|
0.00001
|
NM_001022.4(RPS19):c.173-9T>C
|
rs782552614
|
0.00001
|
NM_001022.4(RPS19):c.259G>A (p.Val87Ile)
|
rs782752734
|
0.00001
|
NM_001022.4(RPS19):c.393G>A (p.Leu131=)
|
rs1447794153
|
0.00001
|
NM_001029.5(RPS26):c.-80C>T
|
rs886049687
|
0.00001
|
NM_001029.5(RPS26):c.266G>A (p.Arg89His)
|
rs764673368
|
0.00001
|
NM_001029.5(RPS26):c.3+6T>G
|
rs748437026
|
0.00001
|
NM_001029.5(RPS26):c.93C>T (p.Pro31=)
|
rs760255764
|
0.00001
|
NM_001040436.3(YARS2):c.*230A>G
|
rs371690622
|
0.00001
|
NM_001040436.3(YARS2):c.234T>C (p.Cys78=)
|
rs565102282
|
0.00001
|
NM_001040436.3(YARS2):c.917T>C (p.Phe306Ser)
|
rs376934259
|
0.00001
|
NM_001063.4(TF):c.1029G>A (p.Arg343=)
|
rs762383370
|
0.00001
|
NM_001063.4(TF):c.1198A>G (p.Ile400Val)
|
rs200250866
|
0.00001
|
NM_001063.4(TF):c.1204-14C>A
|
rs1406126776
|
0.00001
|
NM_001063.4(TF):c.1785C>T (p.Asn595=)
|
rs757985238
|
0.00001
|
NM_001063.4(TF):c.311A>G (p.Tyr104Cys)
|
rs746672239
|
0.00001
|
NM_001063.4(TF):c.60C>T (p.Val20=)
|
rs756125441
|
0.00001
|
NM_001063.4(TF):c.680C>T (p.Ser227Leu)
|
rs1295939213
|
0.00001
|
NM_001081.4(CUBN):c.*203C>T
|
rs769041830
|
0.00001
|
NM_001081.4(CUBN):c.*281A>G
|
rs886046858
|
0.00001
|
NM_001081.4(CUBN):c.*446A>G
|
rs1315458918
|
0.00001
|
NM_001081.4(CUBN):c.-42G>T
|
rs751905101
|
0.00001
|
NM_001081.4(CUBN):c.10012C>A (p.Gln3338Lys)
|
rs755210947
|
0.00001
|
NM_001081.4(CUBN):c.10181-14A>G
|
rs886046864
|
0.00001
|
NM_001081.4(CUBN):c.1022A>G (p.Gln341Arg)
|
rs149517557
|
0.00001
|
NM_001081.4(CUBN):c.10238A>G (p.Asp3413Gly)
|
rs760807440
|
0.00001
|
NM_001081.4(CUBN):c.10471A>G (p.Ser3491Gly)
|
rs1183879233
|
0.00001
|
NM_001081.4(CUBN):c.10678G>A (p.Asp3560Asn)
|
rs768846551
|
0.00001
|
NM_001081.4(CUBN):c.10795T>C (p.Ser3599Pro)
|
rs1177156381
|
0.00001
|
NM_001081.4(CUBN):c.1190A>G (p.Asn397Ser)
|
rs140397272
|
0.00001
|
NM_001081.4(CUBN):c.1272G>T (p.Trp424Cys)
|
rs563035840
|
0.00001
|
NM_001081.4(CUBN):c.1418-9C>A
|
rs779016475
|
0.00001
|
NM_001081.4(CUBN):c.164C>T (p.Thr55Met)
|
rs774556167
|
0.00001
|
NM_001081.4(CUBN):c.1978C>A (p.Leu660Ile)
|
rs1836092449
|
0.00001
|
NM_001081.4(CUBN):c.2005T>C (p.Ser669Pro)
|
rs751139014
|
0.00001
|
NM_001081.4(CUBN):c.2306G>A (p.Arg769Gln)
|
rs770625165
|
0.00001
|
NM_001081.4(CUBN):c.2311G>A (p.Gly771Ser)
|
rs866820343
|
0.00001
|
NM_001081.4(CUBN):c.2441A>G (p.Gln814Arg)
|
rs770392464
|
0.00001
|
NM_001081.4(CUBN):c.2536A>G (p.Ile846Val)
|
rs775423928
|
0.00001
|
NM_001081.4(CUBN):c.265A>C (p.Lys89Gln)
|
rs755860454
|
0.00001
|
NM_001081.4(CUBN):c.2795G>A (p.Cys932Tyr)
|
rs572470830
|
0.00001
|
NM_001081.4(CUBN):c.2822G>A (p.Gly941Glu)
|
rs757185023
|
0.00001
|
NM_001081.4(CUBN):c.289G>A (p.Gly97Arg)
|
rs763105241
|
0.00001
|
NM_001081.4(CUBN):c.3101G>C (p.Gly1034Ala)
|
rs778092585
|
0.00001
|
NM_001081.4(CUBN):c.3308A>G (p.Tyr1103Cys)
|
rs760682560
|
0.00001
|
NM_001081.4(CUBN):c.3371A>G (p.Tyr1124Cys)
|
rs763475348
|
0.00001
|
NM_001081.4(CUBN):c.3500G>T (p.Gly1167Val)
|
rs773892336
|
0.00001
|
NM_001081.4(CUBN):c.3896C>G (p.Pro1299Arg)
|
rs752570169
|
0.00001
|
NM_001081.4(CUBN):c.3932G>A (p.Arg1311Gln)
|
rs1037514591
|
0.00001
|
NM_001081.4(CUBN):c.3944G>A (p.Gly1315Asp)
|
rs773480436
|
0.00001
|
NM_001081.4(CUBN):c.3977A>C (p.Asp1326Ala)
|
rs774933317
|
0.00001
|
NM_001081.4(CUBN):c.4242C>T (p.Asn1414=)
|
rs138052938
|
0.00001
|
NM_001081.4(CUBN):c.4312G>T (p.Val1438Leu)
|
rs764937978
|
0.00001
|
NM_001081.4(CUBN):c.4837C>T (p.Arg1613Ter)
|
rs769881615
|
0.00001
|
NM_001081.4(CUBN):c.4906C>T (p.Arg1636Trp)
|
rs551594427
|
0.00001
|
NM_001081.4(CUBN):c.4907G>T (p.Arg1636Leu)
|
rs538984401
|
0.00001
|
NM_001081.4(CUBN):c.5021C>T (p.Thr1674Met)
|
rs747701083
|
0.00001
|
NM_001081.4(CUBN):c.5076C>T (p.Leu1692=)
|
rs886046874
|
0.00001
|
NM_001081.4(CUBN):c.5083C>T (p.Arg1695Cys)
|
rs770776726
|
0.00001
|
NM_001081.4(CUBN):c.5131G>A (p.Ala1711Thr)
|
rs768182223
|
0.00001
|
NM_001081.4(CUBN):c.5416C>A (p.His1806Asn)
|
rs146438022
|
0.00001
|
NM_001081.4(CUBN):c.5470G>A (p.Val1824Ile)
|
rs776108051
|
0.00001
|
NM_001081.4(CUBN):c.5548A>T (p.Ile1850Leu)
|
rs200277745
|
0.00001
|
NM_001081.4(CUBN):c.5716T>C (p.Tyr1906His)
|
rs186721969
|
0.00001
|
NM_001081.4(CUBN):c.5744G>C (p.Gly1915Ala)
|
rs1483369204
|
0.00001
|
NM_001081.4(CUBN):c.5851A>G (p.Ile1951Val)
|
rs1379361226
|
0.00001
|
NM_001081.4(CUBN):c.5982G>A (p.Pro1994=)
|
rs560009723
|
0.00001
|
NM_001081.4(CUBN):c.6211A>G (p.Ile2071Val)
|
rs567146793
|
0.00001
|
NM_001081.4(CUBN):c.6728C>T (p.Pro2243Leu)
|
rs544059289
|
0.00001
|
NM_001081.4(CUBN):c.6729G>A (p.Pro2243=)
|
rs757609735
|
0.00001
|
NM_001081.4(CUBN):c.6821+3A>G
|
rs767078847
|
0.00001
|
NM_001081.4(CUBN):c.6847C>T (p.Arg2283Trp)
|
rs150117913
|
0.00001
|
NM_001081.4(CUBN):c.6991T>C (p.Tyr2331His)
|
rs767769110
|
0.00001
|
NM_001081.4(CUBN):c.704G>C (p.Arg235Pro)
|
rs752992672
|
0.00001
|
NM_001081.4(CUBN):c.7069T>C (p.Tyr2357His)
|
rs376122892
|
0.00001
|
NM_001081.4(CUBN):c.7070A>C (p.Tyr2357Ser)
|
rs886046870
|
0.00001
|
NM_001081.4(CUBN):c.7084T>A (p.Phe2362Ile)
|
rs757192279
|
0.00001
|
NM_001081.4(CUBN):c.7331G>A (p.Arg2444Gln)
|
rs11254274
|
0.00001
|
NM_001081.4(CUBN):c.7363G>T (p.Asp2455Tyr)
|
rs761577575
|
0.00001
|
NM_001081.4(CUBN):c.7378A>G (p.Ile2460Val)
|
rs565917798
|
0.00001
|
NM_001081.4(CUBN):c.7390A>C (p.Thr2464Pro)
|
rs769747844
|
0.00001
|
NM_001081.4(CUBN):c.7533A>C (p.Ile2511=)
|
rs748416223
|
0.00001
|
NM_001081.4(CUBN):c.7568T>C (p.Leu2523Pro)
|
rs145347743
|
0.00001
|
NM_001081.4(CUBN):c.7625C>A (p.Thr2542Lys)
|
rs1841590875
|
0.00001
|
NM_001081.4(CUBN):c.8095G>A (p.Val2699Met)
|
rs535261179
|
0.00001
|
NM_001081.4(CUBN):c.8222C>A (p.Thr2741Asn)
|
rs771697506
|
0.00001
|
NM_001081.4(CUBN):c.83T>C (p.Leu28Pro)
|
rs1054077052
|
0.00001
|
NM_001081.4(CUBN):c.8479G>A (p.Glu2827Lys)
|
rs373893072
|
0.00001
|
NM_001081.4(CUBN):c.8566G>A (p.Gly2856Ser)
|
rs371139445
|
0.00001
|
NM_001081.4(CUBN):c.8656G>A (p.Val2886Met)
|
rs200235278
|
0.00001
|
NM_001081.4(CUBN):c.8720C>A (p.Ala2907Glu)
|
rs758557930
|
0.00001
|
NM_001081.4(CUBN):c.8749G>A (p.Val2917Ile)
|
rs142248018
|
0.00001
|
NM_001081.4(CUBN):c.8881A>T (p.Thr2961Ser)
|
rs774440223
|
0.00001
|
NM_001081.4(CUBN):c.8908C>T (p.Arg2970Cys)
|
rs562374248
|
0.00001
|
NM_001081.4(CUBN):c.8943C>T (p.Gly2981=)
|
rs767131065
|
0.00001
|
NM_001081.4(CUBN):c.9037G>T (p.Val3013Phe)
|
rs1241849194
|
0.00001
|
NM_001081.4(CUBN):c.9208G>A (p.Val3070Ile)
|
rs144314567
|
0.00001
|
NM_001081.4(CUBN):c.9228C>T (p.Ile3076=)
|
rs976401499
|
0.00001
|
NM_001081.4(CUBN):c.9433A>G (p.Met3145Val)
|
rs367575656
|
0.00001
|
NM_001081.4(CUBN):c.9527A>G (p.Asn3176Ser)
|
rs750045664
|
0.00001
|
NM_001081.4(CUBN):c.9618G>A (p.Leu3206=)
|
rs559567467
|
0.00001
|
NM_001081.4(CUBN):c.9841A>T (p.Thr3281Ser)
|
rs570241713
|
0.00001
|
NM_001083116.3(PRF1):c.1097A>G (p.Gln366Arg)
|
rs957245579
|
0.00001
|
NM_001083116.3(PRF1):c.83G>A (p.Arg28His)
|
rs1230053761
|
0.00001
|
NM_001113378.2(FANCI):c.-23G>A
|
rs886051506
|
0.00001
|
NM_001113378.2(FANCI):c.-72C>G
|
rs886051505
|
0.00001
|
NM_001113378.2(FANCI):c.1017G>A (p.Lys339=)
|
rs72762644
|
0.00001
|
NM_001113378.2(FANCI):c.1039T>C (p.Ser347Pro)
|
rs1289791231
|
0.00001
|
NM_001113378.2(FANCI):c.1055A>G (p.Asn352Ser)
|
rs565007212
|
0.00001
|
NM_001113378.2(FANCI):c.1138C>G (p.Gln380Glu)
|
rs748470270
|
0.00001
|
NM_001113378.2(FANCI):c.1148T>C (p.Val383Ala)
|
rs1012254525
|
0.00001
|
NM_001113378.2(FANCI):c.1305G>A (p.Met435Ile)
|
rs1390853875
|
0.00001
|
NM_001113378.2(FANCI):c.1311A>G (p.Arg437=)
|
rs772846275
|
0.00001
|
NM_001113378.2(FANCI):c.13A>G (p.Ile5Val)
|
rs200186938
|
0.00001
|
NM_001113378.2(FANCI):c.1406A>G (p.Tyr469Cys)
|
rs756206080
|
0.00001
|
NM_001113378.2(FANCI):c.1411C>G (p.Pro471Ala)
|
rs1287849752
|
0.00001
|
NM_001113378.2(FANCI):c.1420C>A (p.Leu474Ile)
|
rs746777753
|
0.00001
|
NM_001113378.2(FANCI):c.1442T>G (p.Val481Gly)
|
rs775192850
|
0.00001
|
NM_001113378.2(FANCI):c.1477C>T (p.Leu493Phe)
|
rs2053603881
|
0.00001
|
NM_001113378.2(FANCI):c.1510C>A (p.Gln504Lys)
|
rs554471987
|
0.00001
|
NM_001113378.2(FANCI):c.1514C>T (p.Pro505Leu)
|
rs773105092
|
0.00001
|
NM_001113378.2(FANCI):c.1519C>T (p.Leu507Phe)
|
rs762294213
|
0.00001
|
NM_001113378.2(FANCI):c.1698+6G>T
|
rs762886638
|
0.00001
|
NM_001113378.2(FANCI):c.16T>G (p.Leu6Val)
|
rs748018574
|
0.00001
|
NM_001113378.2(FANCI):c.1787G>A (p.Ser596Asn)
|
rs754190768
|
0.00001
|
NM_001113378.2(FANCI):c.1805G>A (p.Arg602Gln)
|
rs201641791
|
0.00001
|
NM_001113378.2(FANCI):c.1821+5G>A
|
rs769718753
|
0.00001
|
NM_001113378.2(FANCI):c.1976C>T (p.Ser659Phe)
|
rs776139524
|
0.00001
|
NM_001113378.2(FANCI):c.1A>G (p.Met1Val)
|
rs781249928
|
0.00001
|
NM_001113378.2(FANCI):c.2017C>T (p.His673Tyr)
|
rs763866498
|
0.00001
|
NM_001113378.2(FANCI):c.2033A>G (p.Tyr678Cys)
|
rs916935359
|
0.00001
|
NM_001113378.2(FANCI):c.2051C>T (p.Pro684Leu)
|
rs779276973
|
0.00001
|
NM_001113378.2(FANCI):c.2057A>G (p.Gln686Arg)
|
rs772393046
|
0.00001
|
NM_001113378.2(FANCI):c.2063G>A (p.Gly688Glu)
|
rs778157971
|
0.00001
|
NM_001113378.2(FANCI):c.2098G>A (p.Glu700Lys)
|
rs199615501
|
0.00001
|
NM_001113378.2(FANCI):c.2114T>C (p.Ile705Thr)
|
rs760554629
|
0.00001
|
NM_001113378.2(FANCI):c.2131A>T (p.Asn711Tyr)
|
rs766073258
|
0.00001
|
NM_001113378.2(FANCI):c.2169+12G>A
|
rs886051512
|
0.00001
|
NM_001113378.2(FANCI):c.2169+8C>G
|
rs534051118
|
0.00001
|
NM_001113378.2(FANCI):c.217A>T (p.Ile73Phe)
|
rs138808921
|
0.00001
|
NM_001113378.2(FANCI):c.2185T>A (p.Phe729Ile)
|
rs757610698
|
0.00001
|
NM_001113378.2(FANCI):c.2204T>C (p.Ile735Thr)
|
rs911033971
|
0.00001
|
NM_001113378.2(FANCI):c.2212A>G (p.Lys738Glu)
|
rs1423332049
|
0.00001
|
NM_001113378.2(FANCI):c.2224T>C (p.Cys742Arg)
|
rs770611634
|
0.00001
|
NM_001113378.2(FANCI):c.2292-6T>C
|
rs772352819
|
0.00001
|
NM_001113378.2(FANCI):c.233C>T (p.Ser78Leu)
|
rs754443451
|
0.00001
|
NM_001113378.2(FANCI):c.2341C>A (p.Leu781Ile)
|
rs560692029
|
0.00001
|
NM_001113378.2(FANCI):c.2350A>C (p.Ile784Leu)
|
rs1421332670
|
0.00001
|
NM_001113378.2(FANCI):c.2393A>G (p.Asn798Ser)
|
rs548409550
|
0.00001
|
NM_001113378.2(FANCI):c.2421G>A (p.Met807Ile)
|
rs1282555629
|
0.00001
|
NM_001113378.2(FANCI):c.243G>T (p.Leu81Phe)
|
rs765418977
|
0.00001
|
NM_001113378.2(FANCI):c.2481A>T (p.Glu827Asp)
|
rs879531765
|
0.00001
|
NM_001113378.2(FANCI):c.2544G>C (p.Gln848His)
|
rs777269384
|
0.00001
|
NM_001113378.2(FANCI):c.2572C>G (p.His858Asp)
|
rs1361710673
|
0.00001
|
NM_001113378.2(FANCI):c.2589T>A (p.Asp863Glu)
|
rs199758631
|
0.00001
|
NM_001113378.2(FANCI):c.25G>A (p.Ala9Thr)
|
rs770499988
|
0.00001
|
NM_001113378.2(FANCI):c.2602G>C (p.Glu868Gln)
|
rs1384613419
|
0.00001
|
NM_001113378.2(FANCI):c.2614C>G (p.Gln872Glu)
|
rs1368909419
|
0.00001
|
NM_001113378.2(FANCI):c.2617A>G (p.Asn873Asp)
|
rs764167093
|
0.00001
|
NM_001113378.2(FANCI):c.2623T>C (p.Cys875Arg)
|
rs1309949902
|
0.00001
|
NM_001113378.2(FANCI):c.2636+3A>G
|
rs2054202681
|
0.00001
|
NM_001113378.2(FANCI):c.2636+4A>G
|
rs1211300732
|
0.00001
|
NM_001113378.2(FANCI):c.2636G>A (p.Arg879Gln)
|
rs1488657979
|
0.00001
|
NM_001113378.2(FANCI):c.2649G>C (p.Trp883Cys)
|
rs776067081
|
0.00001
|
NM_001113378.2(FANCI):c.2684C>T (p.Ser895Leu)
|
rs762647324
|
0.00001
|
NM_001113378.2(FANCI):c.2687G>C (p.Gly896Ala)
|
rs751233975
|
0.00001
|
NM_001113378.2(FANCI):c.2753C>T (p.Ala918Val)
|
rs748546731
|
0.00001
|
NM_001113378.2(FANCI):c.2774C>T (p.Pro925Leu)
|
rs773438545
|
0.00001
|
NM_001113378.2(FANCI):c.2813A>G (p.Asp938Gly)
|
rs1060501898
|
0.00001
|
NM_001113378.2(FANCI):c.2820_2852del (p.Glu940_Val951delinsAsp)
|
rs1184165155
|
0.00001
|
NM_001113378.2(FANCI):c.2845G>A (p.Val949Ile)
|
rs767462150
|
0.00001
|
NM_001113378.2(FANCI):c.2879G>A (p.Arg960Gln)
|
rs151267266
|
0.00001
|
NM_001113378.2(FANCI):c.2879_2884dup (p.Gln961_Phe962insTrpGln)
|
rs776851666
|
0.00001
|
NM_001113378.2(FANCI):c.290C>T (p.Ala97Val)
|
rs1555442676
|
0.00001
|
NM_001113378.2(FANCI):c.2918A>G (p.Gln973Arg)
|
rs780663944
|
0.00001
|
NM_001113378.2(FANCI):c.292C>T (p.His98Tyr)
|
rs886051507
|
0.00001
|
NM_001113378.2(FANCI):c.2977T>A (p.Ser993Thr)
|
rs1194951081
|
0.00001
|
NM_001113378.2(FANCI):c.3044A>G (p.Lys1015Arg)
|
rs150387641
|
0.00001
|
NM_001113378.2(FANCI):c.3053G>A (p.Ser1018Asn)
|
rs773696866
|
0.00001
|
NM_001113378.2(FANCI):c.3133C>G (p.Leu1045Val)
|
rs1343059856
|
0.00001
|
NM_001113378.2(FANCI):c.3139C>T (p.Arg1047Cys)
|
rs1429500240
|
0.00001
|
NM_001113378.2(FANCI):c.3186+3A>G
|
rs371788349
|
0.00001
|
NM_001113378.2(FANCI):c.3206C>G (p.Thr1069Arg)
|
rs763822728
|
0.00001
|
NM_001113378.2(FANCI):c.3237G>A (p.Thr1079=)
|
rs767103109
|
0.00001
|
NM_001113378.2(FANCI):c.3247A>G (p.Thr1083Ala)
|
rs886051513
|
0.00001
|
NM_001113378.2(FANCI):c.329A>G (p.Asn110Ser)
|
rs368987143
|
0.00001
|
NM_001113378.2(FANCI):c.3327A>T (p.Gln1109His)
|
rs1388053700
|
0.00001
|
NM_001113378.2(FANCI):c.3377C>G (p.Pro1126Arg)
|
rs78234788
|
0.00001
|
NM_001113378.2(FANCI):c.3379A>G (p.Asn1127Asp)
|
rs878854179
|
0.00001
|
NM_001113378.2(FANCI):c.3400A>G (p.Ile1134Val)
|
rs377630829
|
0.00001
|
NM_001113378.2(FANCI):c.3428C>T (p.Thr1143Ile)
|
rs772071601
|
0.00001
|
NM_001113378.2(FANCI):c.3435C>G (p.Phe1145Leu)
|
rs1344945720
|
0.00001
|
NM_001113378.2(FANCI):c.3439G>A (p.Glu1147Lys)
|
rs947003968
|
0.00001
|
NM_001113378.2(FANCI):c.3443T>G (p.Leu1148Arg)
|
rs1043718711
|
0.00001
|
NM_001113378.2(FANCI):c.3457C>G (p.Leu1153Val)
|
rs368451326
|
0.00001
|
NM_001113378.2(FANCI):c.3505A>G (p.Met1169Val)
|
rs757606290
|
0.00001
|
NM_001113378.2(FANCI):c.3505A>T (p.Met1169Leu)
|
rs757606290
|
0.00001
|
NM_001113378.2(FANCI):c.3515C>T (p.Thr1172Ile)
|
rs552222011
|
0.00001
|
NM_001113378.2(FANCI):c.3521C>G (p.Thr1174Arg)
|
rs757106031
|
0.00001
|
NM_001113378.2(FANCI):c.3562G>A (p.Gly1188Arg)
|
rs772739034
|
0.00001
|
NM_001113378.2(FANCI):c.3589C>G (p.Leu1197Val)
|
rs149763090
|
0.00001
|
NM_001113378.2(FANCI):c.3619C>G (p.Pro1207Ala)
|
rs759758760
|
0.00001
|
NM_001113378.2(FANCI):c.362T>C (p.Leu121Pro)
|
rs373184027
|
0.00001
|
NM_001113378.2(FANCI):c.3656A>G (p.Lys1219Arg)
|
rs757964620
|
0.00001
|
NM_001113378.2(FANCI):c.3665G>A (p.Ser1222Asn)
|
rs746232111
|
0.00001
|
NM_001113378.2(FANCI):c.3671A>C (p.Asn1224Thr)
|
rs780218001
|
0.00001
|
NM_001113378.2(FANCI):c.3674A>G (p.Tyr1225Cys)
|
rs1351957141
|
0.00001
|
NM_001113378.2(FANCI):c.3709G>C (p.Ala1237Pro)
|
rs751025656
|
0.00001
|
NM_001113378.2(FANCI):c.3730C>A (p.Leu1244Ile)
|
rs1321885310
|
0.00001
|
NM_001113378.2(FANCI):c.3809A>G (p.Lys1270Arg)
|
rs749287934
|
0.00001
|
NM_001113378.2(FANCI):c.3816+4A>G
|
rs575207637
|
0.00001
|
NM_001113378.2(FANCI):c.3898G>A (p.Glu1300Lys)
|
rs780404413
|
0.00001
|
NM_001113378.2(FANCI):c.3900G>C (p.Glu1300Asp)
|
rs749756525
|
0.00001
|
NM_001113378.2(FANCI):c.3918T>G (p.Asn1306Lys)
|
rs561190476
|
0.00001
|
NM_001113378.2(FANCI):c.3924+3C>T
|
rs766430678
|
0.00001
|
NM_001113378.2(FANCI):c.3924G>C (p.Glu1308Asp)
|
rs760646851
|
0.00001
|
NM_001113378.2(FANCI):c.3925G>A (p.Gly1309Ser)
|
rs1357711884
|
0.00001
|
NM_001113378.2(FANCI):c.3931G>T (p.Ala1311Ser)
|
rs754573704
|
0.00001
|
NM_001113378.2(FANCI):c.394A>G (p.Ile132Val)
|
rs749540937
|
0.00001
|
NM_001113378.2(FANCI):c.3977G>T (p.Arg1326Met)
|
rs916916820
|
0.00001
|
NM_001113378.2(FANCI):c.400C>G (p.Leu134Val)
|
rs768553208
|
0.00001
|
NM_001113378.2(FANCI):c.416C>T (p.Thr139Met)
|
rs1161378135
|
0.00001
|
NM_001113378.2(FANCI):c.418A>G (p.Lys140Glu)
|
rs1410323660
|
0.00001
|
NM_001113378.2(FANCI):c.475C>G (p.Gln159Glu)
|
rs765463274
|
0.00001
|
NM_001113378.2(FANCI):c.497C>G (p.Ser166Cys)
|
rs745789593
|
0.00001
|
NM_001113378.2(FANCI):c.504-3C>T
|
rs1457153041
|
0.00001
|
NM_001113378.2(FANCI):c.538A>T (p.Met180Leu)
|
rs1233794193
|
0.00001
|
NM_001113378.2(FANCI):c.539T>C (p.Met180Thr)
|
rs139834845
|
0.00001
|
NM_001113378.2(FANCI):c.546-6C>T
|
rs754929965
|
0.00001
|
NM_001113378.2(FANCI):c.557T>C (p.Leu186Pro)
|
rs1370113722
|
0.00001
|
NM_001113378.2(FANCI):c.571G>A (p.Val191Met)
|
rs1296106146
|
0.00001
|
NM_001113378.2(FANCI):c.614T>G (p.Met205Arg)
|
rs750520404
|
0.00001
|
NM_001113378.2(FANCI):c.625G>C (p.Glu209Gln)
|
rs752707646
|
0.00001
|
NM_001113378.2(FANCI):c.716C>T (p.Ala239Val)
|
rs749779839
|
0.00001
|
NM_001113378.2(FANCI):c.794G>A (p.Arg265His)
|
rs375652309
|
0.00001
|
NM_001113378.2(FANCI):c.811A>G (p.Ile271Val)
|
rs778263817
|
0.00001
|
NM_001113378.2(FANCI):c.905A>G (p.Asn302Ser)
|
rs575416245
|
0.00001
|
NM_001113378.2(FANCI):c.918T>G (p.Ser306Arg)
|
rs745623288
|
0.00001
|
NM_001113378.2(FANCI):c.925A>G (p.Ser309Gly)
|
rs1184166680
|
0.00001
|
NM_001113378.2(FANCI):c.92A>G (p.Asn31Ser)
|
rs745341673
|
0.00001
|
NM_001113378.2(FANCI):c.955A>G (p.Ile319Val)
|
rs1451676691
|
0.00001
|
NM_001113378.2(FANCI):c.975+3A>G
|
rs773615217
|
0.00001
|
NM_001113378.2(FANCI):c.976-6C>T
|
rs2053316788
|
0.00001
|
NM_001114134.2(EPB42):c.1532T>C (p.Ile511Thr)
|
rs1190513717
|
0.00001
|
NM_001114134.2(EPB42):c.308C>A (p.Thr103Asn)
|
rs1374938976
|
0.00001
|
NM_001114134.2(EPB42):c.830C>T (p.Thr277Ile)
|
rs515726211
|
0.00001
|
NM_001114134.2(EPB42):c.860G>A (p.Arg287His)
|
rs371685912
|
0.00001
|
NM_001114134.2(EPB42):c.890G>T (p.Gly297Val)
|
rs1292537932
|
0.00001
|
NM_001114134.2(EPB42):c.901C>T (p.Arg301Cys)
|
rs886051167
|
0.00001
|
NM_001142864.4(PIEZO1):c.6280C>T (p.Leu2094Phe)
|
rs1027478327
|
0.00001
|
NM_001174125.2(SLC11A2):c.49+1791C>T
|
rs920922103
|
0.00001
|
NM_001243177.4(ALDOA):c.1069G>A (p.Gly357Ser)
|
rs746068220
|
0.00001
|
NM_001243177.4(ALDOA):c.1120A>T (p.Asn374Tyr)
|
rs886051894
|
0.00001
|
NM_001243177.4(ALDOA):c.1134G>A (p.Ala378=)
|
rs530089317
|
0.00001
|
NM_001243177.4(ALDOA):c.217A>G (p.Ile73Val)
|
rs929389001
|
0.00001
|
NM_001243177.4(ALDOA):c.274+5G>A
|
rs774939475
|
0.00001
|
NM_001243177.4(ALDOA):c.322G>A (p.Glu108Lys)
|
rs199852002
|
0.00001
|
NM_001243177.4(ALDOA):c.436C>T (p.Arg146Cys)
|
rs776187312
|
0.00001
|
NM_001243177.4(ALDOA):c.520A>G (p.Asn174Asp)
|
rs775705038
|
0.00001
|
NM_001243177.4(ALDOA):c.563G>A (p.Arg188His)
|
rs778814633
|
0.00001
|
NM_001243177.4(ALDOA):c.572A>T (p.Gln191Leu)
|
rs1283845684
|
0.00001
|
NM_001243177.4(ALDOA):c.644C>T (p.Ala215Val)
|
rs1463243958
|
0.00001
|
NM_001243177.4(ALDOA):c.821A>G (p.His274Arg)
|
rs760807537
|
0.00001
|
NM_001243177.4(ALDOA):c.910G>A (p.Ala304Thr)
|
rs886051893
|
0.00001
|
NM_001243177.4(ALDOA):c.937C>T (p.Arg313Cys)
|
rs779421883
|
0.00001
|
NM_001271696.3(ABCB7):c.1230A>G (p.Leu410=)
|
rs1175852840
|
0.00001
|
NM_001271696.3(ABCB7):c.168+13T>C
|
rs1057515989
|
0.00001
|
NM_001271696.3(ABCB7):c.1802A>G (p.Gln601Arg)
|
rs141119655
|
0.00001
|
NM_001271696.3(ABCB7):c.2066C>T (p.Thr689Ile)
|
rs768257406
|
0.00001
|
NM_001271696.3(ABCB7):c.2073T>C (p.His691=)
|
rs781524899
|
0.00001
|
NM_001287444.2(DCDC2C):c.955-1G>C
|
rs1167362443
|
0.00001
|
NM_001355436.2(SPTB):c.220C>T (p.Arg74Cys)
|
rs575005279
|
0.00001
|
NM_001360016.2(G6PD):c.242G>A (p.Arg81His)
|
rs782308266
|
0.00001
|
NM_001360016.2(G6PD):c.251G>A (p.Ser84Asn)
|
rs141830127
|
0.00001
|
NM_001360016.2(G6PD):c.574C>T (p.Arg192Cys)
|
rs1557230370
|
0.00001
|
NM_001360016.2(G6PD):c.660C>G (p.Ile220Met)
|
rs782771682
|
0.00001
|
NM_001360016.2(G6PD):c.775G>A (p.Val259Met)
|
rs782690505
|
0.00001
|
NM_001360016.2(G6PD):c.973G>A (p.Asp325Asn)
|
rs781906610
|
0.00001
|
NM_001374504.1(TMPRSS6):c.1086G>A (p.Thr362=)
|
rs976867694
|
0.00001
|
NM_001374504.1(TMPRSS6):c.1197-4C>G
|
rs529716198
|
0.00001
|
NM_001374504.1(TMPRSS6):c.2004G>A (p.Pro668=)
|
rs565997258
|
0.00001
|
NM_001374504.1(TMPRSS6):c.2099C>T (p.Ala700Val)
|
rs770790879
|
0.00001
|
NM_001374504.1(TMPRSS6):c.334A>G (p.Met112Val)
|
rs766769149
|
0.00001
|
NM_001374504.1(TMPRSS6):c.648C>A (p.Ser216Arg)
|
rs758253807
|
0.00001
|
NM_001374504.1(TMPRSS6):c.693C>T (p.His231=)
|
rs769301726
|
0.00001
|
NM_001374504.1(TMPRSS6):c.827T>G (p.Leu276Arg)
|
rs372887020
|
0.00001
|
NM_001374504.1(TMPRSS6):c.865G>A (p.Val289Met)
|
rs1319296800
|
0.00001
|
NM_001376013.1(EPB41):c.1505C>T (p.Ala502Val)
|
rs745905322
|
0.00001
|
NM_001376013.1(EPB41):c.2021G>A (p.Ser674Asn)
|
rs1302220038
|
0.00001
|
NM_001386140.1(MTTP):c.*1018G>A
|
rs1036088923
|
0.00001
|
NM_001386140.1(MTTP):c.*184G>A
|
rs146172944
|
0.00001
|
NM_001386140.1(MTTP):c.*490_*494del
|
rs886058963
|
0.00001
|
NM_001386140.1(MTTP):c.*668A>G
|
rs1021704277
|
0.00001
|
NM_001386140.1(MTTP):c.-20G>A
|
rs752823787
|
0.00001
|
NM_001386140.1(MTTP):c.-28T>C
|
rs886058956
|
0.00001
|
NM_001386140.1(MTTP):c.-54C>T
|
rs181769817
|
0.00001
|
NM_001386140.1(MTTP):c.1136T>C (p.Leu379Ser)
|
rs138544271
|
0.00001
|
NM_001386140.1(MTTP):c.1286T>C (p.Met429Thr)
|
rs765712127
|
0.00001
|
NM_001386140.1(MTTP):c.1325A>G (p.Asn442Ser)
|
rs368711749
|
0.00001
|
NM_001386140.1(MTTP):c.1477G>T (p.Ala493Ser)
|
rs758939873
|
0.00001
|
NM_001386140.1(MTTP):c.1564A>G (p.Lys522Glu)
|
rs780688378
|
0.00001
|
NM_001386140.1(MTTP):c.1636A>G (p.Ile546Val)
|
rs200992175
|
0.00001
|
NM_001386140.1(MTTP):c.1951T>C (p.Phe651Leu)
|
rs1159084242
|
0.00001
|
NM_001386140.1(MTTP):c.2006A>G (p.Gln669Arg)
|
rs1309109456
|
0.00001
|
NM_001386140.1(MTTP):c.2041G>A (p.Glu681Lys)
|
rs886058958
|
0.00001
|
NM_001386140.1(MTTP):c.2144C>G (p.Ser715Cys)
|
rs149228079
|
0.00001
|
NM_001386140.1(MTTP):c.2315G>A (p.Arg772His)
|
rs752590883
|
0.00001
|
NM_001386140.1(MTTP):c.2348C>T (p.Thr783Ile)
|
rs572336571
|
0.00001
|
NM_001386140.1(MTTP):c.2666C>A (p.Thr889Asn)
|
rs1459889971
|
0.00001
|
NM_001386140.1(MTTP):c.2674G>A (p.Gly892Arg)
|
rs774949603
|
0.00001
|
NM_001386140.1(MTTP):c.332T>C (p.Met111Thr)
|
rs1283368181
|
0.00001
|
NM_001386140.1(MTTP):c.393+5A>G
|
rs771577895
|
0.00001
|
NM_001386140.1(MTTP):c.452G>T (p.Gly151Val)
|
rs1252692732
|
0.00001
|
NM_001386140.1(MTTP):c.536A>G (p.Gln179Arg)
|
rs746001155
|
0.00001
|
NM_001386140.1(MTTP):c.695C>T (p.Ala232Val)
|
rs748108500
|
0.00001
|
NM_001386140.1(MTTP):c.756G>A (p.Ser252=)
|
rs750749323
|
0.00001
|
NM_001386140.1(MTTP):c.791G>A (p.Gly264Asp)
|
rs1428463955
|
0.00001
|
NM_001386140.1(MTTP):c.863C>A (p.Pro288His)
|
rs1022457887
|
0.00001
|
NM_002049.4(GATA1):c.1232T>C (p.Leu411Pro)
|
rs1460124191
|
0.00001
|
NM_002049.4(GATA1):c.221-4A>G
|
rs782150782
|
0.00001
|
NM_002049.4(GATA1):c.283G>A (p.Gly95Ser)
|
rs782790256
|
0.00001
|
NM_002049.4(GATA1):c.337C>T (p.Arg113Cys)
|
rs782263736
|
0.00001
|
NM_002049.4(GATA1):c.343G>T (p.Asp115Tyr)
|
rs914292956
|
0.00001
|
NM_002049.4(GATA1):c.373G>A (p.Asp125Asn)
|
rs782411113
|
0.00001
|
NM_002049.4(GATA1):c.485C>T (p.Ala162Val)
|
rs1177167183
|
0.00001
|
NM_002049.4(GATA1):c.727C>T (p.Arg243Trp)
|
rs782632688
|
0.00001
|
NM_002049.4(GATA1):c.889A>T (p.Met297Leu)
|
rs1569499699
|
0.00001
|
NM_002113.3(CFHR1):c.869T>C (p.Leu290Ser)
|
rs200832275
|
0.00001
|
NM_002250.3(KCNN4):c.1007C>T (p.Ala336Val)
|
rs141341073
|
0.00001
|
NM_002454.3(MTRR):c.1035A>G (p.Ile345Met)
|
rs140944718
|
0.00001
|
NM_002454.3(MTRR):c.1086G>A (p.Ala362=)
|
rs750381895
|
0.00001
|
NM_002454.3(MTRR):c.1135A>G (p.Ile379Val)
|
rs746404785
|
0.00001
|
NM_002454.3(MTRR):c.1136T>G (p.Ile379Ser)
|
rs1243456483
|
0.00001
|
NM_002454.3(MTRR):c.1253G>A (p.Arg418Gln)
|
rs749461781
|
0.00001
|
NM_002454.3(MTRR):c.127A>G (p.Lys43Glu)
|
rs937595017
|
0.00001
|
NM_002454.3(MTRR):c.1574G>A (p.Arg525Gln)
|
rs1343250131
|
0.00001
|
NM_002454.3(MTRR):c.1597C>T (p.Pro533Ser)
|
rs771421325
|
0.00001
|
NM_002454.3(MTRR):c.1727T>G (p.Leu576Trp)
|
rs771123203
|
0.00001
|
NM_002454.3(MTRR):c.1769+8A>G
|
rs892239997
|
0.00001
|
NM_002454.3(MTRR):c.1844T>C (p.Val615Ala)
|
rs1318949494
|
0.00001
|
NM_002454.3(MTRR):c.1883A>G (p.Asn628Ser)
|
rs144020429
|
0.00001
|
NM_002454.3(MTRR):c.1890G>A (p.Gln630=)
|
rs9282786
|
0.00001
|
NM_002454.3(MTRR):c.313T>G (p.Cys105Gly)
|
rs1484416611
|
0.00001
|
NM_002454.3(MTRR):c.399A>G (p.Val133=)
|
rs560392566
|
0.00001
|
NM_002454.3(MTRR):c.487A>G (p.Ile163Val)
|
rs886060804
|
0.00001
|
NM_002454.3(MTRR):c.527G>C (p.Arg176Thr)
|
rs1182297284
|
0.00001
|
NM_002454.3(MTRR):c.52A>G (p.Ile18Val)
|
rs753325140
|
0.00001
|
NM_002454.3(MTRR):c.589G>C (p.Asp197His)
|
rs748186027
|
0.00001
|
NM_002454.3(MTRR):c.703C>T (p.Leu235Phe)
|
rs1238722351
|
0.00001
|
NM_002454.3(MTRR):c.735A>C (p.Leu245Phe)
|
rs1343821146
|
0.00001
|
NM_002454.3(MTRR):c.832A>G (p.Ile278Val)
|
rs1377146830
|
0.00001
|
NM_002454.3(MTRR):c.863A>G (p.Asp288Gly)
|
rs766083570
|
0.00001
|
NM_002485.5(NBN):c.1023C>G (p.Ser341Arg)
|
rs756023239
|
0.00001
|
NM_002485.5(NBN):c.1034G>T (p.Gly345Val)
|
rs587780089
|
0.00001
|
NM_002485.5(NBN):c.119C>T (p.Ser40Leu)
|
rs587781530
|
0.00001
|
NM_002485.5(NBN):c.1247T>C (p.Met416Thr)
|
rs863224713
|
0.00001
|
NM_002485.5(NBN):c.1248G>T (p.Met416Ile)
|
rs756572268
|
0.00001
|
NM_002485.5(NBN):c.135T>A (p.His45Gln)
|
rs770618624
|
0.00001
|
NM_002485.5(NBN):c.1361C>A (p.Ser454Tyr)
|
rs587780774
|
0.00001
|
NM_002485.5(NBN):c.1404G>T (p.Arg468Ser)
|
rs730881851
|
0.00001
|
NM_002485.5(NBN):c.1412A>G (p.Glu471Gly)
|
rs878854505
|
0.00001
|
NM_002485.5(NBN):c.1465C>G (p.Leu489Val)
|
rs143948240
|
0.00001
|
NM_002485.5(NBN):c.1471G>A (p.Glu491Lys)
|
rs776900339
|
0.00001
|
NM_002485.5(NBN):c.1480C>A (p.Gln494Lys)
|
rs587781557
|
0.00001
|
NM_002485.5(NBN):c.1580A>T (p.Asp527Val)
|
rs1554558407
|
0.00001
|
NM_002485.5(NBN):c.1652G>A (p.Arg551Lys)
|
rs1586053587
|
0.00001
|
NM_002485.5(NBN):c.1754A>G (p.Glu585Gly)
|
rs763926389
|
0.00001
|
NM_002485.5(NBN):c.1763A>G (p.Asn588Ser)
|
rs876658681
|
0.00001
|
NM_002485.5(NBN):c.1770A>T (p.Arg590Ser)
|
rs1586053003
|
0.00001
|
NM_002485.5(NBN):c.1843T>C (p.Ser615Pro)
|
rs746632073
|
0.00001
|
NM_002485.5(NBN):c.1973A>G (p.Glu658Gly)
|
rs587782155
|
0.00001
|
NM_002485.5(NBN):c.2071G>A (p.Val691Ile)
|
rs772059959
|
0.00001
|
NM_002485.5(NBN):c.2099C>G (p.Pro700Arg)
|
rs1367898317
|
0.00001
|
NM_002485.5(NBN):c.2149A>T (p.Thr717Ser)
|
rs587780093
|
0.00001
|
NM_002485.5(NBN):c.2174A>G (p.Gln725Arg)
|
rs878854510
|
0.00001
|
NM_002485.5(NBN):c.2184+1G>T
|
rs756363734
|
0.00001
|
NM_002485.5(NBN):c.321-3C>T
|
rs751356470
|
0.00001
|
NM_002485.5(NBN):c.350C>T (p.Ser117Phe)
|
rs1060503468
|
0.00001
|
NM_002485.5(NBN):c.361G>C (p.Asp121His)
|
rs777916019
|
0.00001
|
NM_002485.5(NBN):c.390A>G (p.Gln130=)
|
rs146150499
|
0.00001
|
NM_002485.5(NBN):c.490G>T (p.Ala164Ser)
|
rs786201252
|
0.00001
|
NM_002485.5(NBN):c.596C>G (p.Pro199Arg)
|
rs730881844
|
0.00001
|
NM_002485.5(NBN):c.644G>A (p.Arg215Gln)
|
rs61753718
|
0.00001
|
NM_002485.5(NBN):c.703C>T (p.His235Tyr)
|
rs1554564044
|
0.00001
|
NM_002485.5(NBN):c.772G>C (p.Glu258Gln)
|
rs922057169
|
0.00001
|
NM_002485.5(NBN):c.826A>T (p.Thr276Ser)
|
rs1554563895
|
0.00001
|
NM_002485.5(NBN):c.827C>G (p.Thr276Arg)
|
rs864622304
|
0.00001
|
NM_002485.5(NBN):c.83G>A (p.Arg28Lys)
|
rs876658581
|
0.00001
|
NM_002485.5(NBN):c.938C>T (p.Ala313Val)
|
rs730881862
|
0.00001
|
NM_002948.5(RPL15):c.536A>G (p.Lys179Arg)
|
rs774572575
|
0.00001
|
NM_003126.4(SPTA1):c.*379G>A
|
rs976671141
|
0.00001
|
NM_003126.4(SPTA1):c.10T>C (p.Phe4Leu)
|
rs753495645
|
0.00001
|
NM_003126.4(SPTA1):c.1463T>A (p.Val488Glu)
|
rs754575328
|
0.00001
|
NM_003126.4(SPTA1):c.1573T>C (p.Phe525Leu)
|
rs886045391
|
0.00001
|
NM_003126.4(SPTA1):c.2245C>A (p.Leu749Met)
|
rs777149969
|
0.00001
|
NM_003126.4(SPTA1):c.2323T>C (p.Phe775Leu)
|
rs772872696
|
0.00001
|
NM_003126.4(SPTA1):c.2822A>G (p.His941Arg)
|
rs751259397
|
0.00001
|
NM_003126.4(SPTA1):c.3189-10C>T
|
rs769083223
|
0.00001
|
NM_003126.4(SPTA1):c.3189-13A>G
|
rs776423390
|
0.00001
|
NM_003126.4(SPTA1):c.4637A>G (p.His1546Arg)
|
rs568501725
|
0.00001
|
NM_003126.4(SPTA1):c.4919C>G (p.Ala1640Gly)
|
rs369714529
|
0.00001
|
NM_003126.4(SPTA1):c.5093T>C (p.Val1698Ala)
|
rs182430449
|
0.00001
|
NM_003126.4(SPTA1):c.5433-13C>A
|
rs770095010
|
0.00001
|
NM_003126.4(SPTA1):c.551T>G (p.Val184Gly)
|
rs746827368
|
0.00001
|
NM_003126.4(SPTA1):c.5566-11T>C
|
rs886045382
|
0.00001
|
NM_003126.4(SPTA1):c.5643A>G (p.Gln1881=)
|
rs375384407
|
0.00001
|
NM_003126.4(SPTA1):c.5786C>G (p.Ala1929Gly)
|
rs199547344
|
0.00001
|
NM_003126.4(SPTA1):c.6233T>A (p.Ile2078Asn)
|
rs757836340
|
0.00001
|
NM_003126.4(SPTA1):c.6359C>G (p.Thr2120Ser)
|
rs182897201
|
0.00001
|
NM_003126.4(SPTA1):c.6372G>A (p.Val2124=)
|
rs1376244991
|
0.00001
|
NM_003126.4(SPTA1):c.6621G>A (p.Gln2207=)
|
rs1206486118
|
0.00001
|
NM_003126.4(SPTA1):c.6631C>T (p.Arg2211Cys)
|
rs773800556
|
0.00001
|
NM_003126.4(SPTA1):c.679-5A>C
|
rs772845211
|
0.00001
|
NM_003126.4(SPTA1):c.6868C>T (p.Arg2290Cys)
|
rs553043635
|
0.00001
|
NM_003126.4(SPTA1):c.7228G>A (p.Val2410Ile)
|
rs750904139
|
0.00001
|
NM_003126.4(SPTA1):c.7237A>T (p.Thr2413Ser)
|
rs376198878
|
0.00001
|
NM_003126.4(SPTA1):c.966G>A (p.Glu322=)
|
rs750150735
|
0.00001
|
NM_004629.1(FANCG):c.-491G>A
|
rs886063901
|
0.00001
|
NM_004629.2(FANCG):c.*101A>G
|
rs751616369
|
0.00001
|
NM_004629.2(FANCG):c.-276G>A
|
rs1445799529
|
0.00001
|
NM_004629.2(FANCG):c.-311T>A
|
rs886063900
|
0.00001
|
NM_004629.2(FANCG):c.-348A>G
|
rs376750755
|
0.00001
|
NM_004629.2(FANCG):c.1076G>A (p.Arg359Lys)
|
rs755919340
|
0.00001
|
NM_004629.2(FANCG):c.1077G>A (p.Arg359=)
|
rs901079231
|
0.00001
|
NM_004629.2(FANCG):c.1162C>G (p.Pro388Ala)
|
rs1356114266
|
0.00001
|
NM_004629.2(FANCG):c.1189T>C (p.Phe397Leu)
|
rs1060501868
|
0.00001
|
NM_004629.2(FANCG):c.1222G>A (p.Gly408Ser)
|
rs371171892
|
0.00001
|
NM_004629.2(FANCG):c.1252G>A (p.Glu418Lys)
|
rs886063896
|
0.00001
|
NM_004629.2(FANCG):c.1268G>A (p.Arg423His)
|
rs757276792
|
0.00001
|
NM_004629.2(FANCG):c.1298G>C (p.Arg433Pro)
|
rs748738986
|
0.00001
|
NM_004629.2(FANCG):c.1354G>A (p.Val452Ile)
|
rs756069860
|
0.00001
|
NM_004629.2(FANCG):c.1434-6C>T
|
rs1404150675
|
0.00001
|
NM_004629.2(FANCG):c.1473A>G (p.Lys491=)
|
rs769921972
|
0.00001
|
NM_004629.2(FANCG):c.1492A>C (p.Asn498His)
|
rs748364103
|
0.00001
|
NM_004629.2(FANCG):c.1519G>A (p.Ala507Thr)
|
rs373151602
|
0.00001
|
NM_004629.2(FANCG):c.1567G>C (p.Glu523Gln)
|
rs761993636
|
0.00001
|
NM_004629.2(FANCG):c.158T>G (p.Leu53Arg)
|
rs756388446
|
0.00001
|
NM_004629.2(FANCG):c.1595A>G (p.Lys532Arg)
|
rs1587139402
|
0.00001
|
NM_004629.2(FANCG):c.1615C>G (p.Leu539Val)
|
rs1486862292
|
0.00001
|
NM_004629.2(FANCG):c.1626G>C (p.Gln542His)
|
rs1060501867
|
0.00001
|
NM_004629.2(FANCG):c.1652A>C (p.Tyr551Ser)
|
rs1447816480
|
0.00001
|
NM_004629.2(FANCG):c.1662G>A (p.Leu554=)
|
rs750982155
|
0.00001
|
NM_004629.2(FANCG):c.1687C>T (p.Arg563Trp)
|
rs754258080
|
0.00001
|
NM_004629.2(FANCG):c.1688G>A (p.Arg563Gln)
|
rs1309056736
|
0.00001
|
NM_004629.2(FANCG):c.176G>A (p.Gly59Glu)
|
rs538555981
|
0.00001
|
NM_004629.2(FANCG):c.1814G>A (p.Arg605His)
|
rs751710424
|
0.00001
|
NM_004629.2(FANCG):c.314A>G (p.Glu105Gly)
|
rs769048669
|
0.00001
|
NM_004629.2(FANCG):c.338G>A (p.Arg113Lys)
|
rs778894219
|
0.00001
|
NM_004629.2(FANCG):c.463C>T (p.Arg155Cys)
|
rs200926249
|
0.00001
|
NM_004629.2(FANCG):c.500A>G (p.Asn167Ser)
|
rs749946550
|
0.00001
|
NM_004629.2(FANCG):c.634G>A (p.Ala212Thr)
|
rs775291829
|
0.00001
|
NM_004629.2(FANCG):c.646+5G>A
|
rs1453133047
|
0.00001
|
NM_004629.2(FANCG):c.682G>A (p.Ala228Thr)
|
rs765095688
|
0.00001
|
NM_004629.2(FANCG):c.73C>G (p.Arg25Gly)
|
rs752839554
|
0.00001
|
NM_004629.2(FANCG):c.766C>T (p.His256Tyr)
|
rs753955326
|
0.00001
|
NM_004629.2(FANCG):c.787C>T (p.Gln263Ter)
|
rs149721361
|
0.00001
|
NM_004629.2(FANCG):c.84+9G>T
|
rs759504806
|
0.00001
|
NM_004629.2(FANCG):c.869A>G (p.Tyr290Cys)
|
rs779840229
|
0.00001
|
NM_004629.2(FANCG):c.8G>T (p.Arg3Leu)
|
rs770674344
|
0.00001
|
NM_004629.2(FANCG):c.905G>T (p.Ser302Ile)
|
rs61757386
|
0.00001
|
NM_004629.2(FANCG):c.924+3A>G
|
rs1338383222
|
0.00001
|
NM_004629.2(FANCG):c.933_938dup (p.Val312_Pro313dup)
|
rs1199832786
|
0.00001
|
NM_004629.2(FANCG):c.999C>T (p.Asp333=)
|
rs762238437
|
0.00001
|
NM_005050.4(ABCD4):c.1019A>G (p.Tyr340Cys)
|
rs1446995315
|
0.00001
|
NM_005050.4(ABCD4):c.1093G>T (p.Gly365Cys)
|
rs201100662
|
0.00001
|
NM_005050.4(ABCD4):c.1095C>T (p.Gly365=)
|
rs546298874
|
0.00001
|
NM_005050.4(ABCD4):c.1337A>G (p.Gln446Arg)
|
rs759539743
|
0.00001
|
NM_005050.4(ABCD4):c.1402G>A (p.Gly468Arg)
|
rs1360319567
|
0.00001
|
NM_005050.4(ABCD4):c.1578G>A (p.Pro526=)
|
rs555792734
|
0.00001
|
NM_005050.4(ABCD4):c.1609C>A (p.Leu537Ile)
|
rs780846855
|
0.00001
|
NM_005050.4(ABCD4):c.166G>A (p.Val56Met)
|
rs2083804334
|
0.00001
|
NM_005050.4(ABCD4):c.1752+2T>C
|
rs151116417
|
0.00001
|
NM_005050.4(ABCD4):c.1753-18G>A
|
rs772567988
|
0.00001
|
NM_005050.4(ABCD4):c.1794G>C (p.Trp598Cys)
|
rs773609274
|
0.00001
|
NM_005050.4(ABCD4):c.352C>T (p.His118Tyr)
|
rs371774856
|
0.00001
|
NM_005050.4(ABCD4):c.388T>C (p.Tyr130His)
|
rs1349388678
|
0.00001
|
NM_005050.4(ABCD4):c.463C>T (p.Arg155Trp)
|
rs373322009
|
0.00001
|
NM_005050.4(ABCD4):c.556G>A (p.Gly186Arg)
|
rs1410990711
|
0.00001
|
NM_005050.4(ABCD4):c.644A>G (p.Gln215Arg)
|
rs1280841182
|
0.00001
|
NM_005050.4(ABCD4):c.727C>T (p.His243Tyr)
|
rs761053363
|
0.00001
|
NM_005142.3(CBLIF):c.*56T>G
|
rs886048401
|
0.00001
|
NM_005142.3(CBLIF):c.1180C>T (p.Pro394Ser)
|
rs766270119
|
0.00001
|
NM_005142.3(CBLIF):c.1211C>G (p.Pro404Arg)
|
rs1460997213
|
0.00001
|
NM_005142.3(CBLIF):c.239T>C (p.Met80Thr)
|
rs376339959
|
0.00001
|
NM_005142.3(CBLIF):c.482T>G (p.Leu161Arg)
|
rs200856492
|
0.00001
|
NM_005236.3(ERCC4):c.1004T>C (p.Met335Thr)
|
rs1458037304
|
0.00001
|
NM_005236.3(ERCC4):c.1090A>G (p.Lys364Glu)
|
rs765535723
|
0.00001
|
NM_005236.3(ERCC4):c.1110A>T (p.Lys370Asn)
|
rs774643449
|
0.00001
|
NM_005236.3(ERCC4):c.1207G>C (p.Gly403Arg)
|
rs751348446
|
0.00001
|
NM_005236.3(ERCC4):c.1210C>T (p.Pro404Ser)
|
rs767454772
|
0.00001
|
NM_005236.3(ERCC4):c.1212A>G (p.Pro404=)
|
rs752193295
|
0.00001
|
NM_005236.3(ERCC4):c.1217A>G (p.Gln406Arg)
|
rs762147159
|
0.00001
|
NM_005236.3(ERCC4):c.122C>G (p.Ala41Gly)
|
rs751095195
|
0.00001
|
NM_005236.3(ERCC4):c.124G>A (p.Asp42Asn)
|
rs767138486
|
0.00001
|
NM_005236.3(ERCC4):c.125A>G (p.Asp42Gly)
|
rs752379459
|
0.00001
|
NM_005236.3(ERCC4):c.1265A>T (p.Asp422Val)
|
rs767408205
|
0.00001
|
NM_005236.3(ERCC4):c.127C>T (p.Arg43Trp)
|
rs1234856735
|
0.00001
|
NM_005236.3(ERCC4):c.1301G>A (p.Arg434Lys)
|
rs1473430382
|
0.00001
|
NM_005236.3(ERCC4):c.1304T>G (p.Leu435Arg)
|
rs1001540758
|
0.00001
|
NM_005236.3(ERCC4):c.1334A>C (p.Lys445Thr)
|
rs368559924
|
0.00001
|
NM_005236.3(ERCC4):c.1336G>T (p.Ala446Ser)
|
rs1298488189
|
0.00001
|
NM_005236.3(ERCC4):c.1364A>G (p.Lys455Arg)
|
rs759312308
|
0.00001
|
NM_005236.3(ERCC4):c.137A>G (p.Tyr46Cys)
|
rs757860762
|
0.00001
|
NM_005236.3(ERCC4):c.1544G>A (p.Arg515His)
|
rs766111215
|
0.00001
|
NM_005236.3(ERCC4):c.1575C>G (p.Cys525Trp)
|
rs779170299
|
0.00001
|
NM_005236.3(ERCC4):c.1655C>T (p.Thr552Ile)
|
rs549865610
|
0.00001
|
NM_005236.3(ERCC4):c.1787C>A (p.Ala596Glu)
|
rs751782722
|
0.00001
|
NM_005236.3(ERCC4):c.1831G>A (p.Gly611Arg)
|
rs749814308
|
0.00001
|
NM_005236.3(ERCC4):c.1975G>A (p.Gly659Ser)
|
rs753506602
|
0.00001
|
NM_005236.3(ERCC4):c.1976G>A (p.Gly659Asp)
|
rs756811179
|
0.00001
|
NM_005236.3(ERCC4):c.1979C>T (p.Thr660Ile)
|
rs779366136
|
0.00001
|
NM_005236.3(ERCC4):c.2017+3G>A
|
rs1596634140
|
0.00001
|
NM_005236.3(ERCC4):c.2101C>T (p.Arg701Cys)
|
rs772728961
|
0.00001
|
NM_005236.3(ERCC4):c.2176C>T (p.Arg726Cys)
|
rs777184889
|
0.00001
|
NM_005236.3(ERCC4):c.2200G>A (p.Gly734Ser)
|
rs753924297
|
0.00001
|
NM_005236.3(ERCC4):c.2260C>T (p.Arg754Cys)
|
rs535728795
|
0.00001
|
NM_005236.3(ERCC4):c.232A>T (p.Ile78Leu)
|
rs765712858
|
0.00001
|
NM_005236.3(ERCC4):c.2452C>G (p.Gln818Glu)
|
rs774635437
|
0.00001
|
NM_005236.3(ERCC4):c.2500G>T (p.Asp834Tyr)
|
rs138583819
|
0.00001
|
NM_005236.3(ERCC4):c.2534A>G (p.Asn845Ser)
|
rs377562755
|
0.00001
|
NM_005236.3(ERCC4):c.2588G>C (p.Cys863Ser)
|
rs749822053
|
0.00001
|
NM_005236.3(ERCC4):c.2590C>T (p.Arg864Cys)
|
rs587778284
|
0.00001
|
NM_005236.3(ERCC4):c.259C>T (p.Arg87Cys)
|
rs191886782
|
0.00001
|
NM_005236.3(ERCC4):c.2693A>G (p.Tyr898Cys)
|
rs2032564211
|
0.00001
|
NM_005236.3(ERCC4):c.2735G>A (p.Gly912Glu)
|
rs2020956
|
0.00001
|
NM_005236.3(ERCC4):c.326C>T (p.Ala109Val)
|
rs767586458
|
0.00001
|
NM_005236.3(ERCC4):c.32C>T (p.Ala11Val)
|
rs753596005
|
0.00001
|
NM_005236.3(ERCC4):c.376G>C (p.Asp126His)
|
rs1192940719
|
0.00001
|
NM_005236.3(ERCC4):c.41C>T (p.Pro14Leu)
|
rs754622238
|
0.00001
|
NM_005236.3(ERCC4):c.448C>T (p.Arg150Cys)
|
rs145402255
|
0.00001
|
NM_005236.3(ERCC4):c.473G>A (p.Arg158His)
|
rs1012646362
|
0.00001
|
NM_005236.3(ERCC4):c.541G>A (p.Val181Met)
|
rs750673145
|
0.00001
|
NM_005236.3(ERCC4):c.61C>G (p.Gln21Glu)
|
rs748499820
|
0.00001
|
NM_005236.3(ERCC4):c.737C>T (p.Ser246Leu)
|
rs370864937
|
0.00001
|
NM_005236.3(ERCC4):c.782C>T (p.Pro261Leu)
|
rs765111229
|
0.00001
|
NM_005236.3(ERCC4):c.794C>T (p.Thr265Ile)
|
rs1265753536
|
0.00001
|
NM_005236.3(ERCC4):c.798C>G (p.Ile266Met)
|
rs746106147
|
0.00001
|
NM_005236.3(ERCC4):c.830T>C (p.Leu277Pro)
|
rs2032156137
|
0.00001
|
NM_005236.3(ERCC4):c.947C>T (p.Thr316Met)
|
rs1340754747
|
0.00001
|
NM_005334.3(HCFC1):c.1222A>G (p.Thr408Ala)
|
rs781937365
|
0.00001
|
NM_005334.3(HCFC1):c.2690C>T (p.Ala897Val)
|
rs781971515
|
0.00001
|
NM_005334.3(HCFC1):c.3385G>A (p.Ala1129Thr)
|
rs782235304
|
0.00001
|
NM_005334.3(HCFC1):c.3409C>T (p.Arg1137Trp)
|
rs1043389387
|
0.00001
|
NM_005334.3(HCFC1):c.3791G>C (p.Gly1264Ala)
|
rs1557113936
|
0.00001
|
NM_005334.3(HCFC1):c.4109C>T (p.Ser1370Leu)
|
rs1557113656
|
0.00001
|
NM_005334.3(HCFC1):c.4153A>G (p.Arg1385Gly)
|
rs781783048
|
0.00001
|
NM_005334.3(HCFC1):c.4242G>C (p.Gln1414His)
|
rs1004412459
|
0.00001
|
NM_005334.3(HCFC1):c.4334A>G (p.Asp1445Gly)
|
rs782122807
|
0.00001
|
NM_005334.3(HCFC1):c.4376C>T (p.Thr1459Ile)
|
rs935130398
|
0.00001
|
NM_005334.3(HCFC1):c.4789G>A (p.Ala1597Thr)
|
rs1557112927
|
0.00001
|
NM_005334.3(HCFC1):c.4790C>T (p.Ala1597Val)
|
rs372010656
|
0.00001
|
NM_005334.3(HCFC1):c.503+6G>A
|
rs1048267564
|
0.00001
|
NM_005334.3(HCFC1):c.5300T>G (p.Val1767Gly)
|
rs1360396448
|
0.00001
|
NM_005334.3(HCFC1):c.5420A>G (p.Lys1807Arg)
|
rs1557112412
|
0.00001
|
NM_005373.3(MPL):c.1169G>A (p.Arg390His)
|
rs1298113648
|
0.00001
|
NM_005373.3(MPL):c.1178C>T (p.Thr393Ile)
|
rs779132175
|
0.00001
|
NM_005431.2(XRCC2):c.181C>A (p.Leu61Ile)
|
rs569810249
|
0.00001
|
NM_005431.2(XRCC2):c.659A>T (p.Asp220Val)
|
rs765021741
|
0.00001
|
NM_005431.2(XRCC2):c.714G>C (p.Arg238Ser)
|
rs534746330
|
0.00001
|
NM_005431.2(XRCC2):c.97G>C (p.Ala33Pro)
|
rs774296079
|
0.00001
|
NM_006363.5(SEC23B):c.-80G>A
|
rs886056524
|
0.00001
|
NM_006363.6(SEC23B):c.*32T>G
|
rs879811598
|
0.00001
|
NM_006363.6(SEC23B):c.*448C>T
|
rs550932027
|
0.00001
|
NM_006363.6(SEC23B):c.*561A>C
|
rs778992067
|
0.00001
|
NM_006363.6(SEC23B):c.1234-11A>G
|
rs187699090
|
0.00001
|
NM_006363.6(SEC23B):c.1299G>A (p.Pro433=)
|
rs767683935
|
0.00001
|
NM_006363.6(SEC23B):c.1380C>A (p.Gly460=)
|
rs201656419
|
0.00001
|
NM_006363.6(SEC23B):c.1385A>G (p.Tyr462Cys)
|
rs780978419
|
0.00001
|
NM_006363.6(SEC23B):c.1400A>G (p.Asn467Ser)
|
rs150210442
|
0.00001
|
NM_006363.6(SEC23B):c.1413C>T (p.Thr471=)
|
rs900752773
|
0.00001
|
NM_006363.6(SEC23B):c.1475C>T (p.Thr492Ile)
|
rs757801115
|
0.00001
|
NM_006363.6(SEC23B):c.1483C>T (p.Arg495Cys)
|
rs768018657
|
0.00001
|
NM_006363.6(SEC23B):c.1486A>G (p.Ile496Val)
|
rs755836066
|
0.00001
|
NM_006363.6(SEC23B):c.2150del (p.Ala717fs)
|
rs1334741748
|
0.00001
|
NM_006363.6(SEC23B):c.221+3A>G
|
rs777858803
|
0.00001
|
NM_006363.6(SEC23B):c.236G>A (p.Arg79Gln)
|
rs370537015
|
0.00001
|
NM_006363.6(SEC23B):c.301A>G (p.Ile101Val)
|
rs754320262
|
0.00001
|
NM_006363.6(SEC23B):c.890C>T (p.Thr297Ile)
|
rs1363436677
|
0.00001
|
NM_006516.4(SLC2A1):c.1060G>A (p.Ala354Thr)
|
rs780529723
|
0.00001
|
NM_006516.4(SLC2A1):c.1171G>A (p.Val391Met)
|
rs764168088
|
0.00001
|
NM_006516.4(SLC2A1):c.1407G>C (p.Gln469His)
|
rs201748668
|
0.00001
|
NM_006516.4(SLC2A1):c.1418G>A (p.Ser473Asn)
|
rs774241047
|
0.00001
|
NM_006516.4(SLC2A1):c.152G>A (p.Arg51His)
|
rs201815571
|
0.00001
|
NM_006516.4(SLC2A1):c.192C>G (p.Leu64=)
|
rs762583668
|
0.00001
|
NM_006516.4(SLC2A1):c.266G>A (p.Arg89His)
|
rs370031715
|
0.00001
|
NM_006516.4(SLC2A1):c.31C>T (p.Arg11Cys)
|
rs1333609390
|
0.00001
|
NM_006516.4(SLC2A1):c.338C>T (p.Ser113Leu)
|
rs774348625
|
0.00001
|
NM_006516.4(SLC2A1):c.374G>C (p.Gly125Ala)
|
rs781521534
|
0.00001
|
NM_006516.4(SLC2A1):c.392T>C (p.Val131Ala)
|
rs987202561
|
0.00001
|
NM_006516.4(SLC2A1):c.511G>A (p.Ala171Thr)
|
rs1017082606
|
0.00001
|
NM_006516.4(SLC2A1):c.601T>G (p.Cys201Gly)
|
rs1050933017
|
0.00001
|
NM_006516.4(SLC2A1):c.625G>A (p.Glu209Lys)
|
rs1387203768
|
0.00001
|
NM_006516.4(SLC2A1):c.679+5G>A
|
rs771386274
|
0.00001
|
NM_006516.4(SLC2A1):c.697G>A (p.Gly233Arg)
|
rs375853334
|
0.00001
|
NM_006516.4(SLC2A1):c.787T>C (p.Phe263Leu)
|
rs1302959508
|
0.00001
|
NM_006516.4(SLC2A1):c.907G>T (p.Val303Leu)
|
rs1205631854
|
0.00001
|
NM_006516.4(SLC2A1):c.953C>T (p.Thr318Met)
|
rs746091725
|
0.00001
|
NM_006516.4(SLC2A1):c.991G>A (p.Ala331Thr)
|
rs1040371265
|
0.00001
|
NM_006563.5(KLF1):c.*2C>T
|
rs778904219
|
0.00001
|
NM_006563.5(KLF1):c.*312G>C
|
rs1970414362
|
0.00001
|
NM_006563.5(KLF1):c.255G>A (p.Pro85=)
|
rs886054238
|
0.00001
|
NM_006563.5(KLF1):c.353G>A (p.Gly118Asp)
|
rs886054237
|
0.00001
|
NM_006563.5(KLF1):c.409C>T (p.Arg137Cys)
|
rs111888566
|
0.00001
|
NM_006563.5(KLF1):c.606G>A (p.Gly202=)
|
rs886054236
|
0.00001
|
NM_006563.5(KLF1):c.690C>T (p.Ala230=)
|
rs775669419
|
0.00001
|
NM_006947.4(SRP72):c.*227G>A
|
rs879875987
|
0.00001
|
NM_006947.4(SRP72):c.*473G>A
|
rs1020026480
|
0.00001
|
NM_006947.4(SRP72):c.29C>T (p.Ser10Leu)
|
rs752240949
|
0.00001
|
NM_006947.4(SRP72):c.7A>G (p.Ser3Gly)
|
rs1719782337
|
0.00001
|
NM_006947.4(SRP72):c.973A>G (p.Lys325Glu)
|
rs763655714
|
0.00001
|
NM_006996.3(SLC19A2):c.*1927C>T
|
rs1657926116
|
0.00001
|
NM_006996.3(SLC19A2):c.*627C>T
|
rs886045527
|
0.00001
|
NM_006996.3(SLC19A2):c.1008G>A (p.Val336=)
|
rs772129644
|
0.00001
|
NM_006996.3(SLC19A2):c.104C>T (p.Ala35Val)
|
rs756487822
|
0.00001
|
NM_006996.3(SLC19A2):c.1149G>C (p.Val383=)
|
rs747484241
|
0.00001
|
NM_006996.3(SLC19A2):c.124T>G (p.Phe42Val)
|
rs1490832268
|
0.00001
|
NM_006996.3(SLC19A2):c.807+6C>G
|
rs201700843
|
0.00001
|
NM_006996.3(SLC19A2):c.909C>G (p.Ala303=)
|
rs1351692845
|
0.00001
|
NM_007294.4(BRCA1):c.1381T>C (p.Phe461Leu)
|
rs62625300
|
0.00001
|
NM_007294.4(BRCA1):c.1745C>T (p.Thr582Met)
|
rs786202386
|
0.00001
|
NM_007294.4(BRCA1):c.2050C>T (p.Pro684Ser)
|
rs397508934
|
0.00001
|
NM_007294.4(BRCA1):c.20G>A (p.Arg7His)
|
rs144792613
|
0.00001
|
NM_007294.4(BRCA1):c.301+6T>C
|
rs753859240
|
0.00001
|
NM_007294.4(BRCA1):c.4231A>G (p.Met1411Val)
|
rs587781768
|
0.00001
|
NM_007294.4(BRCA1):c.4384G>A (p.Glu1462Lys)
|
rs141255461
|
0.00001
|
NM_007294.4(BRCA1):c.4649C>T (p.Thr1550Ile)
|
rs80357076
|
0.00001
|
NM_007294.4(BRCA1):c.4843G>A (p.Ala1615Thr)
|
rs80356987
|
0.00001
|
NM_007294.4(BRCA1):c.527C>T (p.Thr176Met)
|
rs587782747
|
0.00001
|
NM_007294.4(BRCA1):c.982T>C (p.Cys328Arg)
|
rs748156170
|
0.00001
|
NM_015450.3(POT1):c.1255T>C (p.Tyr419His)
|
rs773811344
|
0.00001
|
NM_015506.3(MMACHC):c.14T>A (p.Val5Asp)
|
rs780981680
|
0.00001
|
NM_015506.3(MMACHC):c.222G>C (p.Met74Ile)
|
rs772225967
|
0.00001
|
NM_015506.3(MMACHC):c.230A>G (p.Asp77Gly)
|
rs1217366809
|
0.00001
|
NM_015506.3(MMACHC):c.334C>T (p.Arg112Cys)
|
rs187869948
|
0.00001
|
NM_015506.3(MMACHC):c.349G>C (p.Ala117Pro)
|
rs752205161
|
0.00001
|
NM_015506.3(MMACHC):c.38A>C (p.Glu13Ala)
|
rs1010232462
|
0.00001
|
NM_015506.3(MMACHC):c.403G>T (p.Val135Leu)
|
rs886046368
|
0.00001
|
NM_015506.3(MMACHC):c.406G>A (p.Glu136Lys)
|
rs374086070
|
0.00001
|
NM_015506.3(MMACHC):c.434T>C (p.Ile145Thr)
|
rs759921519
|
0.00001
|
NM_015506.3(MMACHC):c.446G>A (p.Cys149Tyr)
|
rs1161394470
|
0.00001
|
NM_015506.3(MMACHC):c.548T>C (p.Val183Ala)
|
rs780926592
|
0.00001
|
NM_015506.3(MMACHC):c.616C>T (p.Arg206Trp)
|
rs538023671
|
0.00001
|
NM_015506.3(MMACHC):c.687A>G (p.Gln229=)
|
rs369621922
|
0.00001
|
NM_015506.3(MMACHC):c.849A>G (p.Ter283Trp)
|
rs769732556
|
0.00001
|
NM_015702.3(MMADHC):c.127C>T (p.His43Tyr)
|
rs775175927
|
0.00001
|
NM_015702.3(MMADHC):c.152T>C (p.Ile51Thr)
|
rs755472574
|
0.00001
|
NM_015702.3(MMADHC):c.155-3C>T
|
rs773403678
|
0.00001
|
NM_015702.3(MMADHC):c.244T>G (p.Cys82Gly)
|
rs760590651
|
0.00001
|
NM_015702.3(MMADHC):c.406A>G (p.Ser136Gly)
|
rs1345924349
|
0.00001
|
NM_015702.3(MMADHC):c.41A>G (p.Tyr14Cys)
|
rs756550492
|
0.00001
|
NM_015702.3(MMADHC):c.434G>C (p.Arg145Thr)
|
rs780889876
|
0.00001
|
NM_015702.3(MMADHC):c.742C>T (p.Arg248Cys)
|
rs544727246
|
0.00001
|
NM_015702.3(MMADHC):c.80A>G (p.Asn27Ser)
|
rs766017009
|
0.00001
|
NM_016038.4(SBDS):c.523C>T (p.Arg175Trp)
|
rs774976459
|
0.00001
|
NM_016417.3(GLRX5):c.314A>G (p.Asn105Ser)
|
rs773847949
|
0.00001
|
NM_017875.4(SLC25A38):c.*381G>C
|
rs2041837298
|
0.00001
|
NM_017875.4(SLC25A38):c.-325G>C
|
rs886058467
|
0.00001
|
NM_017875.4(SLC25A38):c.280A>G (p.Ile94Val)
|
rs759315257
|
0.00001
|
NM_017875.4(SLC25A38):c.288A>G (p.Arg96=)
|
rs765578993
|
0.00001
|
NM_017875.4(SLC25A38):c.652A>T (p.Ile218Phe)
|
rs764125735
|
0.00001
|
NM_018062.4(FANCL):c.1065A>G (p.Ile355Met)
|
rs147860433
|
0.00001
|
NM_018062.4(FANCL):c.1067T>G (p.Phe356Cys)
|
rs773869051
|
0.00001
|
NM_018062.4(FANCL):c.121G>T (p.Val41Leu)
|
rs763523035
|
0.00001
|
NM_018062.4(FANCL):c.155+4A>G
|
rs1264877990
|
0.00001
|
NM_018062.4(FANCL):c.173A>G (p.Gln58Arg)
|
rs1363031365
|
0.00001
|
NM_018062.4(FANCL):c.182C>G (p.Thr61Arg)
|
rs1315405264
|
0.00001
|
NM_018062.4(FANCL):c.197A>G (p.Tyr66Cys)
|
rs200306031
|
0.00001
|
NM_018062.4(FANCL):c.273+1G>C
|
rs144729980
|
0.00001
|
NM_018062.4(FANCL):c.28C>G (p.Arg10Gly)
|
rs146690827
|
0.00001
|
NM_018062.4(FANCL):c.308C>A (p.Ala103Glu)
|
rs746623168
|
0.00001
|
NM_018062.4(FANCL):c.319C>T (p.Pro107Ser)
|
rs754028115
|
0.00001
|
NM_018062.4(FANCL):c.332A>G (p.Tyr111Cys)
|
rs757683704
|
0.00001
|
NM_018062.4(FANCL):c.344T>C (p.Ile115Thr)
|
rs1060501895
|
0.00001
|
NM_018062.4(FANCL):c.354A>G (p.Ile118Met)
|
rs1371125510
|
0.00001
|
NM_018062.4(FANCL):c.355G>A (p.Gly119Arg)
|
rs764393410
|
0.00001
|
NM_018062.4(FANCL):c.372T>A (p.Asp124Glu)
|
rs1032497636
|
0.00001
|
NM_018062.4(FANCL):c.386C>T (p.Ala129Val)
|
rs771495568
|
0.00001
|
NM_018062.4(FANCL):c.394T>C (p.Cys132Arg)
|
rs748298862
|
0.00001
|
NM_018062.4(FANCL):c.401G>T (p.Ser134Ile)
|
rs377429618
|
0.00001
|
NM_018062.4(FANCL):c.436A>G (p.Arg146Gly)
|
rs369876807
|
0.00001
|
NM_018062.4(FANCL):c.44T>C (p.Leu15Pro)
|
rs1694519859
|
0.00001
|
NM_018062.4(FANCL):c.472T>G (p.Tyr158Asp)
|
rs749411866
|
0.00001
|
NM_018062.4(FANCL):c.488C>G (p.Pro163Arg)
|
rs770063294
|
0.00001
|
NM_018062.4(FANCL):c.50C>G (p.Pro17Arg)
|
rs773768206
|
0.00001
|
NM_018062.4(FANCL):c.541-3C>T
|
rs759711454
|
0.00001
|
NM_018062.4(FANCL):c.554G>C (p.Ser185Thr)
|
rs560205327
|
0.00001
|
NM_018062.4(FANCL):c.598T>A (p.Phe200Ile)
|
rs199660431
|
0.00001
|
NM_018062.4(FANCL):c.611T>C (p.Met204Thr)
|
rs368900762
|
0.00001
|
NM_018062.4(FANCL):c.640C>T (p.Leu214Phe)
|
rs765926796
|
0.00001
|
NM_018062.4(FANCL):c.662G>A (p.Arg221Gln)
|
rs761742545
|
0.00001
|
NM_018062.4(FANCL):c.679A>G (p.Arg227Gly)
|
rs778068203
|
0.00001
|
NM_018062.4(FANCL):c.691+3A>G
|
rs1159902512
|
0.00001
|
NM_018062.4(FANCL):c.692G>A (p.Gly231Asp)
|
rs1558737546
|
0.00001
|
NM_018062.4(FANCL):c.742C>T (p.Leu248Phe)
|
rs1202806362
|
0.00001
|
NM_018062.4(FANCL):c.775+3A>T
|
rs975755966
|
0.00001
|
NM_018062.4(FANCL):c.856G>T (p.Asp286Tyr)
|
rs1685420223
|
0.00001
|
NM_018062.4(FANCL):c.860T>G (p.Val287Gly)
|
rs61757387
|
0.00001
|
NM_018062.4(FANCL):c.881C>T (p.Ala294Val)
|
rs756695293
|
0.00001
|
NM_018062.4(FANCL):c.884G>A (p.Arg295His)
|
rs375526911
|
0.00001
|
NM_018062.4(FANCL):c.96+3A>T
|
rs764782273
|
0.00001
|
NM_018062.4(FANCL):c.992A>C (p.Gln331Pro)
|
rs746967598
|
0.00001
|
NM_018124.4(RFWD3):c.1367G>C (p.Cys456Ser)
|
rs773701779
|
0.00001
|
NM_018368.4(LMBRD1):c.1157G>A (p.Arg386Gln)
|
rs772350306
|
0.00001
|
NM_018368.4(LMBRD1):c.115C>T (p.Arg39Trp)
|
rs748879055
|
0.00001
|
NM_018368.4(LMBRD1):c.116G>A (p.Arg39Gln)
|
rs886061692
|
0.00001
|
NM_018368.4(LMBRD1):c.1214C>G (p.Thr405Ser)
|
rs561265847
|
0.00001
|
NM_018368.4(LMBRD1):c.1217G>A (p.Arg406Lys)
|
rs1364347331
|
0.00001
|
NM_018368.4(LMBRD1):c.1347A>G (p.Ile449Met)
|
rs771561971
|
0.00001
|
NM_018368.4(LMBRD1):c.1382C>G (p.Ser461Cys)
|
rs781535724
|
0.00001
|
NM_018368.4(LMBRD1):c.1613A>G (p.Tyr538Cys)
|
rs982934588
|
0.00001
|
NM_018368.4(LMBRD1):c.166A>G (p.Ile56Val)
|
rs765308443
|
0.00001
|
NM_018368.4(LMBRD1):c.41G>C (p.Gly14Ala)
|
rs201773048
|
0.00001
|
NM_018368.4(LMBRD1):c.596C>T (p.Ser199Phe)
|
rs1562105981
|
0.00001
|
NM_018368.4(LMBRD1):c.649T>C (p.Ser217Pro)
|
rs1766557026
|
0.00001
|
NM_018368.4(LMBRD1):c.7A>G (p.Thr3Ala)
|
rs1297619412
|
0.00001
|
NM_018368.4(LMBRD1):c.867T>A (p.Ile289=)
|
rs747318789
|
0.00001
|
NM_018368.4(LMBRD1):c.907C>A (p.Pro303Thr)
|
rs752377027
|
0.00001
|
NM_020207.7(ERCC6L2):c.1097G>A (p.Gly366Asp)
|
rs140078259
|
0.00001
|
NM_020207.7(ERCC6L2):c.1555C>A (p.His519Asn)
|
rs759609268
|
0.00001
|
NM_020937.4(FANCM):c.1021T>C (p.Phe341Leu)
|
rs1282418362
|
0.00001
|
NM_020937.4(FANCM):c.1032C>A (p.Asn344Lys)
|
rs757823478
|
0.00001
|
NM_020937.4(FANCM):c.106G>A (p.Gly36Ser)
|
rs1416346759
|
0.00001
|
NM_020937.4(FANCM):c.1072G>A (p.Glu358Lys)
|
rs746643140
|
0.00001
|
NM_020937.4(FANCM):c.1115A>G (p.Glu372Gly)
|
rs762845761
|
0.00001
|
NM_020937.4(FANCM):c.1142C>T (p.Ser381Leu)
|
rs765686151
|
0.00001
|
NM_020937.4(FANCM):c.1178C>T (p.Thr393Ile)
|
rs1029198668
|
0.00001
|
NM_020937.4(FANCM):c.119C>G (p.Ala40Gly)
|
rs750184645
|
0.00001
|
NM_020937.4(FANCM):c.1264C>T (p.Arg422Cys)
|
rs150574630
|
0.00001
|
NM_020937.4(FANCM):c.1271G>A (p.Arg424His)
|
rs139726733
|
0.00001
|
NM_020937.4(FANCM):c.1301T>C (p.Ile434Thr)
|
rs763653491
|
0.00001
|
NM_020937.4(FANCM):c.1353G>T (p.Lys451Asn)
|
rs771239660
|
0.00001
|
NM_020937.4(FANCM):c.1393A>T (p.Asn465Tyr)
|
rs776166350
|
0.00001
|
NM_020937.4(FANCM):c.1394A>G (p.Asn465Ser)
|
rs747572587
|
0.00001
|
NM_020937.4(FANCM):c.1411G>A (p.Glu471Lys)
|
rs543029493
|
0.00001
|
NM_020937.4(FANCM):c.1439T>C (p.Met480Thr)
|
rs776804525
|
0.00001
|
NM_020937.4(FANCM):c.1440G>C (p.Met480Ile)
|
rs893380700
|
0.00001
|
NM_020937.4(FANCM):c.1462A>G (p.Ser488Gly)
|
rs374988842
|
0.00001
|
NM_020937.4(FANCM):c.1493A>G (p.Gln498Arg)
|
rs541543025
|
0.00001
|
NM_020937.4(FANCM):c.1509T>G (p.Ile503Met)
|
rs764033368
|
0.00001
|
NM_020937.4(FANCM):c.1516A>G (p.Met506Val)
|
rs758763305
|
0.00001
|
NM_020937.4(FANCM):c.1566G>T (p.Gln522His)
|
rs763980494
|
0.00001
|
NM_020937.4(FANCM):c.1598G>A (p.Arg533His)
|
rs1183879113
|
0.00001
|
NM_020937.4(FANCM):c.1600G>A (p.Asp534Asn)
|
rs1392286222
|
0.00001
|
NM_020937.4(FANCM):c.1604G>A (p.Gly535Asp)
|
rs201076487
|
0.00001
|
NM_020937.4(FANCM):c.1616C>T (p.Thr539Met)
|
rs758046969
|
0.00001
|
NM_020937.4(FANCM):c.1654A>G (p.Ile552Val)
|
rs1416236626
|
0.00001
|
NM_020937.4(FANCM):c.1655T>C (p.Ile552Thr)
|
rs200240871
|
0.00001
|
NM_020937.4(FANCM):c.1703T>C (p.Ile568Thr)
|
rs764204806
|
0.00001
|
NM_020937.4(FANCM):c.1708C>T (p.Leu570Phe)
|
rs1473955115
|
0.00001
|
NM_020937.4(FANCM):c.1735C>T (p.Arg579Cys)
|
rs149698772
|
0.00001
|
NM_020937.4(FANCM):c.1753A>G (p.Ile585Val)
|
rs772284228
|
0.00001
|
NM_020937.4(FANCM):c.1765C>T (p.Leu589Phe)
|
rs764151493
|
0.00001
|
NM_020937.4(FANCM):c.1786C>T (p.Arg596Cys)
|
rs765671208
|
0.00001
|
NM_020937.4(FANCM):c.1805A>G (p.Gln602Arg)
|
rs1343909660
|
0.00001
|
NM_020937.4(FANCM):c.1846A>G (p.Arg616Gly)
|
rs763557682
|
0.00001
|
NM_020937.4(FANCM):c.1895G>A (p.Gly632Glu)
|
rs757274359
|
0.00001
|
NM_020937.4(FANCM):c.190G>T (p.Ala64Ser)
|
rs1015238529
|
0.00001
|
NM_020937.4(FANCM):c.1948G>A (p.Glu650Lys)
|
rs763357840
|
0.00001
|
NM_020937.4(FANCM):c.1949A>C (p.Glu650Ala)
|
rs771567101
|
0.00001
|
NM_020937.4(FANCM):c.1994A>G (p.Tyr665Cys)
|
rs148250143
|
0.00001
|
NM_020937.4(FANCM):c.2002+5A>G
|
rs1888042696
|
0.00001
|
NM_020937.4(FANCM):c.2005A>T (p.Met669Leu)
|
rs1888274673
|
0.00001
|
NM_020937.4(FANCM):c.201G>T (p.Gln67His)
|
rs761398438
|
0.00001
|
NM_020937.4(FANCM):c.2066A>G (p.Asn689Ser)
|
rs1317308859
|
0.00001
|
NM_020937.4(FANCM):c.2096A>G (p.Glu699Gly)
|
rs991105099
|
0.00001
|
NM_020937.4(FANCM):c.2177C>T (p.Thr726Ile)
|
rs1171394901
|
0.00001
|
NM_020937.4(FANCM):c.220G>A (p.Gly74Arg)
|
rs765227168
|
0.00001
|
NM_020937.4(FANCM):c.2215T>C (p.Trp739Arg)
|
rs1407263617
|
0.00001
|
NM_020937.4(FANCM):c.2236A>G (p.Thr746Ala)
|
rs764033302
|
0.00001
|
NM_020937.4(FANCM):c.2244A>G (p.Gln748=)
|
rs751605791
|
0.00001
|
NM_020937.4(FANCM):c.2261G>A (p.Arg754Gln)
|
rs529256568
|
0.00001
|
NM_020937.4(FANCM):c.2266C>T (p.Arg756Cys)
|
rs756870111
|
0.00001
|
NM_020937.4(FANCM):c.2275A>G (p.Ile759Val)
|
rs1431873616
|
0.00001
|
NM_020937.4(FANCM):c.2339A>C (p.Glu780Ala)
|
rs149856496
|
0.00001
|
NM_020937.4(FANCM):c.233C>A (p.Ser78Tyr)
|
rs753797551
|
0.00001
|
NM_020937.4(FANCM):c.235G>C (p.Ala79Pro)
|
rs1885491442
|
0.00001
|
NM_020937.4(FANCM):c.2361G>A (p.Met787Ile)
|
rs201921949
|
0.00001
|
NM_020937.4(FANCM):c.2385T>G (p.Ile795Met)
|
rs769468991
|
0.00001
|
NM_020937.4(FANCM):c.2389C>G (p.Pro797Ala)
|
rs144771929
|
0.00001
|
NM_020937.4(FANCM):c.2392A>G (p.Arg798Gly)
|
rs772286894
|
0.00001
|
NM_020937.4(FANCM):c.2423C>T (p.Thr808Ile)
|
rs200194850
|
0.00001
|
NM_020937.4(FANCM):c.2458A>G (p.Asn820Asp)
|
rs765507230
|
0.00001
|
NM_020937.4(FANCM):c.2485G>T (p.Val829Leu)
|
rs754426327
|
0.00001
|
NM_020937.4(FANCM):c.2602A>G (p.Lys868Glu)
|
rs770342366
|
0.00001
|
NM_020937.4(FANCM):c.2608A>G (p.Asn870Asp)
|
rs1453998176
|
0.00001
|
NM_020937.4(FANCM):c.2613T>G (p.Asn871Lys)
|
rs1453404140
|
0.00001
|
NM_020937.4(FANCM):c.2618G>T (p.Gly873Val)
|
rs766902093
|
0.00001
|
NM_020937.4(FANCM):c.2621T>C (p.Ile874Thr)
|
rs774139592
|
0.00001
|
NM_020937.4(FANCM):c.2635G>C (p.Asp879His)
|
rs375959944
|
0.00001
|
NM_020937.4(FANCM):c.2653A>G (p.Thr885Ala)
|
rs1182429346
|
0.00001
|
NM_020937.4(FANCM):c.2672A>C (p.Gln891Pro)
|
rs753820999
|
0.00001
|
NM_020937.4(FANCM):c.2692A>G (p.Lys898Glu)
|
rs747219710
|
0.00001
|
NM_020937.4(FANCM):c.2696G>A (p.Arg899Lys)
|
rs755241883
|
0.00001
|
NM_020937.4(FANCM):c.2714A>T (p.Glu905Val)
|
rs770155583
|
0.00001
|
NM_020937.4(FANCM):c.2725A>G (p.Thr909Ala)
|
rs1475086312
|
0.00001
|
NM_020937.4(FANCM):c.2750T>C (p.Ile917Thr)
|
rs753772148
|
0.00001
|
NM_020937.4(FANCM):c.2752A>G (p.Lys918Glu)
|
rs757244993
|
0.00001
|
NM_020937.4(FANCM):c.2755G>A (p.Glu919Lys)
|
rs184770388
|
0.00001
|
NM_020937.4(FANCM):c.2759C>T (p.Pro920Leu)
|
rs776256629
|
0.00001
|
NM_020937.4(FANCM):c.275G>A (p.Arg92Gln)
|
rs1885496616
|
0.00001
|
NM_020937.4(FANCM):c.2774C>T (p.Thr925Ile)
|
rs1227468338
|
0.00001
|
NM_020937.4(FANCM):c.2791A>G (p.Asn931Asp)
|
rs142798313
|
0.00001
|
NM_020937.4(FANCM):c.2807C>T (p.Ser936Leu)
|
rs1594798166
|
0.00001
|
NM_020937.4(FANCM):c.281A>G (p.Tyr94Cys)
|
rs1352722928
|
0.00001
|
NM_020937.4(FANCM):c.2834G>A (p.Gly945Asp)
|
rs1193165722
|
0.00001
|
NM_020937.4(FANCM):c.2843G>A (p.Ser948Asn)
|
rs1040437114
|
0.00001
|
NM_020937.4(FANCM):c.2849A>G (p.Asn950Ser)
|
rs775175323
|
0.00001
|
NM_020937.4(FANCM):c.2852A>G (p.Asp951Gly)
|
rs760309916
|
0.00001
|
NM_020937.4(FANCM):c.2871_2876del (p.Asn958_Leu959del)
|
rs1888628927
|
0.00001
|
NM_020937.4(FANCM):c.2881C>T (p.Leu961Phe)
|
rs1319257761
|
0.00001
|
NM_020937.4(FANCM):c.2922C>G (p.Asp974Glu)
|
rs1888633712
|
0.00001
|
NM_020937.4(FANCM):c.2962G>A (p.Ala988Thr)
|
rs1454000944
|
0.00001
|
NM_020937.4(FANCM):c.298C>G (p.Arg100Gly)
|
rs1438436722
|
0.00001
|
NM_020937.4(FANCM):c.298C>T (p.Arg100Trp)
|
rs1438436722
|
0.00001
|
NM_020937.4(FANCM):c.2999C>G (p.Pro1000Arg)
|
rs751314954
|
0.00001
|
NM_020937.4(FANCM):c.3023A>C (p.Glu1008Ala)
|
rs1420000591
|
0.00001
|
NM_020937.4(FANCM):c.3074G>A (p.Cys1025Tyr)
|
rs908243528
|
0.00001
|
NM_020937.4(FANCM):c.314G>T (p.Cys105Phe)
|
rs955997534
|
0.00001
|
NM_020937.4(FANCM):c.3175T>C (p.Tyr1059His)
|
rs755723099
|
0.00001
|
NM_020937.4(FANCM):c.3176A>T (p.Tyr1059Phe)
|
rs1888656410
|
0.00001
|
NM_020937.4(FANCM):c.3193T>G (p.Cys1065Gly)
|
rs201836469
|
0.00001
|
NM_020937.4(FANCM):c.3212A>G (p.Asn1071Ser)
|
rs1297760447
|
0.00001
|
NM_020937.4(FANCM):c.3293A>G (p.Asn1098Ser)
|
rs372995836
|
0.00001
|
NM_020937.4(FANCM):c.3295C>T (p.Arg1099Cys)
|
rs767815301
|
0.00001
|
NM_020937.4(FANCM):c.3308A>C (p.His1103Pro)
|
rs191339110
|
0.00001
|
NM_020937.4(FANCM):c.3332T>C (p.Val1111Ala)
|
rs376798467
|
0.00001
|
NM_020937.4(FANCM):c.3363T>G (p.Ser1121Arg)
|
rs746805378
|
0.00001
|
NM_020937.4(FANCM):c.3468C>G (p.Ser1156Arg)
|
rs756947100
|
0.00001
|
NM_020937.4(FANCM):c.3476T>C (p.Leu1159Ser)
|
rs1045206208
|
0.00001
|
NM_020937.4(FANCM):c.3550T>G (p.Leu1184Val)
|
rs1331676656
|
0.00001
|
NM_020937.4(FANCM):c.3573A>G (p.Gln1191=)
|
rs1307778741
|
0.00001
|
NM_020937.4(FANCM):c.3587G>A (p.Arg1196His)
|
rs751441742
|
0.00001
|
NM_020937.4(FANCM):c.3593C>G (p.Ala1198Gly)
|
rs754961557
|
0.00001
|
NM_020937.4(FANCM):c.3611G>A (p.Arg1204His)
|
rs867324948
|
0.00001
|
NM_020937.4(FANCM):c.364G>T (p.Ala122Ser)
|
rs1885507119
|
0.00001
|
NM_020937.4(FANCM):c.3658A>T (p.Ile1220Phe)
|
rs201839320
|
0.00001
|
NM_020937.4(FANCM):c.3667T>G (p.Cys1223Gly)
|
rs1888703962
|
0.00001
|
NM_020937.4(FANCM):c.3704G>T (p.Gly1235Val)
|
rs146490925
|
0.00001
|
NM_020937.4(FANCM):c.3763C>A (p.Pro1255Thr)
|
rs770651053
|
0.00001
|
NM_020937.4(FANCM):c.3854A>G (p.His1285Arg)
|
rs749696321
|
0.00001
|
NM_020937.4(FANCM):c.3887T>C (p.Ile1296Thr)
|
rs760563906
|
0.00001
|
NM_020937.4(FANCM):c.3889C>T (p.Pro1297Ser)
|
rs753821216
|
0.00001
|
NM_020937.4(FANCM):c.3898G>A (p.Glu1300Lys)
|
rs751795256
|
0.00001
|
NM_020937.4(FANCM):c.3971G>A (p.Gly1324Asp)
|
rs1888731038
|
0.00001
|
NM_020937.4(FANCM):c.4057A>G (p.Ile1353Val)
|
rs759767076
|
0.00001
|
NM_020937.4(FANCM):c.4076A>G (p.Lys1359Arg)
|
rs758862288
|
0.00001
|
NM_020937.4(FANCM):c.4098A>T (p.Glu1366Asp)
|
rs550675560
|
0.00001
|
NM_020937.4(FANCM):c.4105A>G (p.Asn1369Asp)
|
rs1248092760
|
0.00001
|
NM_020937.4(FANCM):c.4107C>A (p.Asn1369Lys)
|
rs113664919
|
0.00001
|
NM_020937.4(FANCM):c.410T>C (p.Val137Ala)
|
rs748823532
|
0.00001
|
NM_020937.4(FANCM):c.4126G>A (p.Ala1376Thr)
|
rs373590893
|
0.00001
|
NM_020937.4(FANCM):c.4189A>G (p.Met1397Val)
|
rs376581960
|
0.00001
|
NM_020937.4(FANCM):c.4193A>G (p.Tyr1398Cys)
|
rs534229547
|
0.00001
|
NM_020937.4(FANCM):c.4213T>G (p.Ser1405Ala)
|
rs1412826290
|
0.00001
|
NM_020937.4(FANCM):c.422C>T (p.Ala141Val)
|
rs774380823
|
0.00001
|
NM_020937.4(FANCM):c.424C>T (p.Pro142Ser)
|
rs771875070
|
0.00001
|
NM_020937.4(FANCM):c.4322A>C (p.Gln1441Pro)
|
rs768911217
|
0.00001
|
NM_020937.4(FANCM):c.4343C>T (p.Ser1448Phe)
|
rs774526380
|
0.00001
|
NM_020937.4(FANCM):c.4375C>G (p.Pro1459Ala)
|
rs1429932349
|
0.00001
|
NM_020937.4(FANCM):c.4429C>A (p.Pro1477Thr)
|
rs1373913163
|
0.00001
|
NM_020937.4(FANCM):c.4439A>G (p.Gln1480Arg)
|
rs772095334
|
0.00001
|
NM_020937.4(FANCM):c.4452C>G (p.Phe1484Leu)
|
rs143239291
|
0.00001
|
NM_020937.4(FANCM):c.4465G>A (p.Gly1489Arg)
|
rs183784665
|
0.00001
|
NM_020937.4(FANCM):c.4504A>G (p.Ser1502Gly)
|
rs779176062
|
0.00001
|
NM_020937.4(FANCM):c.4519G>A (p.Val1507Ile)
|
rs945620719
|
0.00001
|
NM_020937.4(FANCM):c.4565A>G (p.Asp1522Gly)
|
rs199514189
|
0.00001
|
NM_020937.4(FANCM):c.4574A>G (p.Tyr1525Cys)
|
rs748721088
|
0.00001
|
NM_020937.4(FANCM):c.4574A>T (p.Tyr1525Phe)
|
rs748721088
|
0.00001
|
NM_020937.4(FANCM):c.4672G>C (p.Asp1558His)
|
rs1251556461
|
0.00001
|
NM_020937.4(FANCM):c.4687G>C (p.Ala1563Pro)
|
rs377410891
|
0.00001
|
NM_020937.4(FANCM):c.4690A>G (p.Ile1564Val)
|
rs540558068
|
0.00001
|
NM_020937.4(FANCM):c.470T>A (p.Val157Glu)
|
rs1165497144
|
0.00001
|
NM_020937.4(FANCM):c.4717A>G (p.Met1573Val)
|
rs780976564
|
0.00001
|
NM_020937.4(FANCM):c.4727A>G (p.Asn1576Ser)
|
rs748182153
|
0.00001
|
NM_020937.4(FANCM):c.4762A>G (p.Ile1588Val)
|
rs910499638
|
0.00001
|
NM_020937.4(FANCM):c.4793A>G (p.Asp1598Gly)
|
rs1405769485
|
0.00001
|
NM_020937.4(FANCM):c.4798A>G (p.Thr1600Ala)
|
rs779658679
|
0.00001
|
NM_020937.4(FANCM):c.479T>A (p.Ile160Asn)
|
rs781618421
|
0.00001
|
NM_020937.4(FANCM):c.4820G>T (p.Cys1607Phe)
|
rs769869730
|
0.00001
|
NM_020937.4(FANCM):c.4847G>A (p.Gly1616Asp)
|
rs1232508556
|
0.00001
|
NM_020937.4(FANCM):c.4871G>T (p.Cys1624Phe)
|
rs1457271846
|
0.00001
|
NM_020937.4(FANCM):c.4913G>A (p.Ser1638Asn)
|
rs776797107
|
0.00001
|
NM_020937.4(FANCM):c.4928C>T (p.Thr1643Ile)
|
rs762187580
|
0.00001
|
NM_020937.4(FANCM):c.4946T>G (p.Leu1649Arg)
|
rs1472981713
|
0.00001
|
NM_020937.4(FANCM):c.4951G>A (p.Glu1651Lys)
|
rs752279370
|
0.00001
|
NM_020937.4(FANCM):c.5048A>G (p.Lys1683Arg)
|
rs763454366
|
0.00001
|
NM_020937.4(FANCM):c.5152G>A (p.Val1718Met)
|
rs371629950
|
0.00001
|
NM_020937.4(FANCM):c.5155C>T (p.Arg1719Cys)
|
rs1444402627
|
0.00001
|
NM_020937.4(FANCM):c.5156G>A (p.Arg1719His)
|
rs760421586
|
0.00001
|
NM_020937.4(FANCM):c.5204C>T (p.Ser1735Leu)
|
rs112745068
|
0.00001
|
NM_020937.4(FANCM):c.5228C>A (p.Ser1743Tyr)
|
rs768392812
|
0.00001
|
NM_020937.4(FANCM):c.5230G>A (p.Glu1744Lys)
|
rs776474104
|
0.00001
|
NM_020937.4(FANCM):c.5240A>G (p.Asp1747Gly)
|
rs764718852
|
0.00001
|
NM_020937.4(FANCM):c.5258A>G (p.His1753Arg)
|
rs371891604
|
0.00001
|
NM_020937.4(FANCM):c.5317A>G (p.Arg1773Gly)
|
rs1356723831
|
0.00001
|
NM_020937.4(FANCM):c.5337G>T (p.Gln1779His)
|
rs374822670
|
0.00001
|
NM_020937.4(FANCM):c.5342A>G (p.Asp1781Gly)
|
rs752053357
|
0.00001
|
NM_020937.4(FANCM):c.5359G>T (p.Asp1787Tyr)
|
rs1465506378
|
0.00001
|
NM_020937.4(FANCM):c.5397A>T (p.Arg1799Ser)
|
rs759165724
|
0.00001
|
NM_020937.4(FANCM):c.5413A>G (p.Thr1805Ala)
|
rs1195945183
|
0.00001
|
NM_020937.4(FANCM):c.5435C>T (p.Pro1812Leu)
|
rs200095329
|
0.00001
|
NM_020937.4(FANCM):c.544T>A (p.Cys182Ser)
|
rs992613830
|
0.00001
|
NM_020937.4(FANCM):c.5474A>G (p.His1825Arg)
|
rs751719012
|
0.00001
|
NM_020937.4(FANCM):c.5496A>C (p.Glu1832Asp)
|
rs374303319
|
0.00001
|
NM_020937.4(FANCM):c.5533G>A (p.Val1845Ile)
|
rs775021812
|
0.00001
|
NM_020937.4(FANCM):c.5578C>T (p.Arg1860Cys)
|
rs139996409
|
0.00001
|
NM_020937.4(FANCM):c.5618A>G (p.Asn1873Ser)
|
rs1890063869
|
0.00001
|
NM_020937.4(FANCM):c.565C>G (p.Leu189Val)
|
rs149010517
|
0.00001
|
NM_020937.4(FANCM):c.5681T>C (p.Ile1894Thr)
|
rs1308170151
|
0.00001
|
NM_020937.4(FANCM):c.5702A>G (p.Asp1901Gly)
|
rs1164461453
|
0.00001
|
NM_020937.4(FANCM):c.5736T>A (p.Phe1912Leu)
|
rs755903696
|
0.00001
|
NM_020937.4(FANCM):c.575A>T (p.Gln192Leu)
|
rs768031730
|
0.00001
|
NM_020937.4(FANCM):c.5782G>A (p.Ala1928Thr)
|
rs1890206013
|
0.00001
|
NM_020937.4(FANCM):c.5792G>A (p.Arg1931Gln)
|
rs773595869
|
0.00001
|
NM_020937.4(FANCM):c.5824G>A (p.Ala1942Thr)
|
rs759078220
|
0.00001
|
NM_020937.4(FANCM):c.5838G>C (p.Lys1946Asn)
|
rs1060501893
|
0.00001
|
NM_020937.4(FANCM):c.5855A>G (p.Glu1952Gly)
|
rs1594486115
|
0.00001
|
NM_020937.4(FANCM):c.5917C>T (p.Leu1973Phe)
|
rs1890214915
|
0.00001
|
NM_020937.4(FANCM):c.6020A>G (p.Glu2007Gly)
|
rs1350057442
|
0.00001
|
NM_020937.4(FANCM):c.6129A>T (p.Arg2043Ser)
|
rs772632630
|
0.00001
|
NM_020937.4(FANCM):c.635T>A (p.Val212Asp)
|
rs1277508701
|
0.00001
|
NM_020937.4(FANCM):c.650A>G (p.His217Arg)
|
rs532404406
|
0.00001
|
NM_020937.4(FANCM):c.673T>C (p.Tyr225His)
|
rs771120876
|
0.00001
|
NM_020937.4(FANCM):c.809G>A (p.Arg270His)
|
rs759079934
|
0.00001
|
NM_020937.4(FANCM):c.812C>G (p.Ser271Cys)
|
rs767396394
|
0.00001
|
NM_020937.4(FANCM):c.824C>T (p.Pro275Leu)
|
rs1436183493
|
0.00001
|
NM_020937.4(FANCM):c.868A>G (p.Ile290Val)
|
rs780426259
|
0.00001
|
NM_020937.4(FANCM):c.898A>G (p.Ile300Val)
|
rs749659002
|
0.00001
|
NM_020937.4(FANCM):c.925G>A (p.Glu309Lys)
|
rs778377621
|
0.00001
|
NM_020937.4(FANCM):c.938G>A (p.Arg313His)
|
rs767487612
|
0.00001
|
NM_020937.4(FANCM):c.946A>G (p.Ile316Val)
|
rs1401549421
|
0.00001
|
NM_020937.4(FANCM):c.963G>C (p.Leu321Phe)
|
rs761891998
|
0.00001
|
NM_020937.4(FANCM):c.980C>T (p.Pro327Leu)
|
rs879849364
|
0.00001
|
NM_020937.4(FANCM):c.985C>G (p.Leu329Val)
|
rs750311376
|
0.00001
|
NM_020937.4(FANCM):c.98A>G (p.Gln33Arg)
|
rs759911498
|
0.00001
|
NM_021922.3(FANCE):c.*401G>C
|
rs886061333
|
0.00001
|
NM_021922.3(FANCE):c.1034G>A (p.Cys345Tyr)
|
rs1007410805
|
0.00001
|
NM_021922.3(FANCE):c.104C>T (p.Ala35Val)
|
rs570498238
|
0.00001
|
NM_021922.3(FANCE):c.1112G>A (p.Arg371Gln)
|
rs1351881430
|
0.00001
|
NM_021922.3(FANCE):c.1114-8G>A
|
rs878854342
|
0.00001
|
NM_021922.3(FANCE):c.1130C>T (p.Ser377Phe)
|
rs1236565765
|
0.00001
|
NM_021922.3(FANCE):c.1142G>A (p.Arg381His)
|
rs374232967
|
0.00001
|
NM_021922.3(FANCE):c.128G>A (p.Gly43Asp)
|
rs1767154137
|
0.00001
|
NM_021922.3(FANCE):c.1290G>T (p.Glu430Asp)
|
rs886061331
|
0.00001
|
NM_021922.3(FANCE):c.1309A>G (p.Met437Val)
|
rs746770705
|
0.00001
|
NM_021922.3(FANCE):c.1331T>C (p.Leu444Pro)
|
rs745685973
|
0.00001
|
NM_021922.3(FANCE):c.1356G>C (p.Leu452Phe)
|
rs1488514330
|
0.00001
|
NM_021922.3(FANCE):c.136G>T (p.Val46Leu)
|
rs1366722396
|
0.00001
|
NM_021922.3(FANCE):c.1501C>G (p.Gln501Glu)
|
rs746321808
|
0.00001
|
NM_021922.3(FANCE):c.1510-1G>A
|
rs772678337
|
0.00001
|
NM_021922.3(FANCE):c.1517A>G (p.Glu506Gly)
|
rs766291860
|
0.00001
|
NM_021922.3(FANCE):c.1520C>T (p.Thr507Ile)
|
rs1413425638
|
0.00001
|
NM_021922.3(FANCE):c.1573A>G (p.Lys525Glu)
|
rs1256798501
|
0.00001
|
NM_021922.3(FANCE):c.1594A>C (p.Lys532Gln)
|
rs749697038
|
0.00001
|
NM_021922.3(FANCE):c.214C>T (p.Pro72Ser)
|
rs890865684
|
0.00001
|
NM_021922.3(FANCE):c.216G>T (p.Pro72=)
|
rs886061328
|
0.00001
|
NM_021922.3(FANCE):c.275G>A (p.Arg92Gln)
|
rs369035099
|
0.00001
|
NM_021922.3(FANCE):c.328C>T (p.Pro110Ser)
|
rs763968547
|
0.00001
|
NM_021922.3(FANCE):c.330G>A (p.Pro110=)
|
rs757051494
|
0.00001
|
NM_021922.3(FANCE):c.338G>C (p.Gly113Ala)
|
rs780304950
|
0.00001
|
NM_021922.3(FANCE):c.365A>T (p.Gln122Leu)
|
rs1554121253
|
0.00001
|
NM_021922.3(FANCE):c.396G>T (p.Trp132Cys)
|
rs866005940
|
0.00001
|
NM_021922.3(FANCE):c.400C>T (p.Arg134Cys)
|
rs181761362
|
0.00001
|
NM_021922.3(FANCE):c.401G>A (p.Arg134His)
|
rs774939689
|
0.00001
|
NM_021922.3(FANCE):c.436G>T (p.Val146Leu)
|
rs755204532
|
0.00001
|
NM_021922.3(FANCE):c.449T>C (p.Met150Thr)
|
rs752797466
|
0.00001
|
NM_021922.3(FANCE):c.502T>C (p.Cys168Arg)
|
rs370057221
|
0.00001
|
NM_021922.3(FANCE):c.508G>T (p.Gly170Trp)
|
rs748817910
|
0.00001
|
NM_021922.3(FANCE):c.533T>G (p.Leu178Trp)
|
rs764017469
|
0.00001
|
NM_021922.3(FANCE):c.535A>C (p.Lys179Gln)
|
rs751676807
|
0.00001
|
NM_021922.3(FANCE):c.599G>A (p.Arg200His)
|
rs150278839
|
0.00001
|
NM_021922.3(FANCE):c.652A>G (p.Lys218Glu)
|
rs370659315
|
0.00001
|
NM_021922.3(FANCE):c.662G>A (p.Arg221Gln)
|
rs777849670
|
0.00001
|
NM_021922.3(FANCE):c.685C>T (p.His229Tyr)
|
rs142737128
|
0.00001
|
NM_021922.3(FANCE):c.763C>A (p.Pro255Thr)
|
rs766901564
|
0.00001
|
NM_021922.3(FANCE):c.821T>C (p.Leu274Pro)
|
rs376591931
|
0.00001
|
NM_021922.3(FANCE):c.862C>T (p.Leu288Phe)
|
rs886061329
|
0.00001
|
NM_021922.3(FANCE):c.938T>C (p.Leu313Pro)
|
rs1767415225
|
0.00001
|
NM_021922.3(FANCE):c.977T>G (p.Leu326Trp)
|
rs779336261
|
0.00001
|
NM_021922.3(FANCE):c.998T>C (p.Leu333Pro)
|
rs770592868
|
0.00001
|
NM_022725.4(FANCF):c.*1190C>A
|
rs750376328
|
0.00001
|
NM_022725.4(FANCF):c.*1632G>C
|
rs886048150
|
0.00001
|
NM_022725.4(FANCF):c.*328C>T
|
rs964106425
|
0.00001
|
NM_022725.4(FANCF):c.*565A>G
|
rs886048155
|
0.00001
|
NM_022725.4(FANCF):c.*782A>G
|
rs949488113
|
0.00001
|
NM_022725.4(FANCF):c.1056A>C (p.Leu352Phe)
|
rs754545069
|
0.00001
|
NM_022725.4(FANCF):c.1060C>T (p.Leu354Phe)
|
rs1858614394
|
0.00001
|
NM_022725.4(FANCF):c.1078A>G (p.Arg360Gly)
|
rs1357749824
|
0.00001
|
NM_022725.4(FANCF):c.1114A>G (p.Ser372Gly)
|
rs760590516
|
0.00001
|
NM_022725.4(FANCF):c.116G>A (p.Arg39His)
|
rs778953394
|
0.00001
|
NM_022725.4(FANCF):c.128A>C (p.His43Pro)
|
rs761221734
|
0.00001
|
NM_022725.4(FANCF):c.133C>T (p.His45Tyr)
|
rs753116878
|
0.00001
|
NM_022725.4(FANCF):c.14T>C (p.Leu5Pro)
|
rs1159900858
|
0.00001
|
NM_022725.4(FANCF):c.166A>G (p.Thr56Ala)
|
rs772736775
|
0.00001
|
NM_022725.4(FANCF):c.182G>T (p.Arg61Leu)
|
rs779046357
|
0.00001
|
NM_022725.4(FANCF):c.189C>G (p.His63Gln)
|
rs1014150752
|
0.00001
|
NM_022725.4(FANCF):c.19C>G (p.His7Asp)
|
rs749273752
|
0.00001
|
NM_022725.4(FANCF):c.210C>T (p.Gly70=)
|
rs769740744
|
0.00001
|
NM_022725.4(FANCF):c.232C>A (p.Pro78Thr)
|
rs554712164
|
0.00001
|
NM_022725.4(FANCF):c.233C>T (p.Pro78Leu)
|
rs928361745
|
0.00001
|
NM_022725.4(FANCF):c.251A>G (p.Gln84Arg)
|
rs756488831
|
0.00001
|
NM_022725.4(FANCF):c.332T>C (p.Leu111Pro)
|
rs373385251
|
0.00001
|
NM_022725.4(FANCF):c.338A>G (p.Gln113Arg)
|
rs757993614
|
0.00001
|
NM_022725.4(FANCF):c.356C>T (p.Pro119Leu)
|
rs760472320
|
0.00001
|
NM_022725.4(FANCF):c.380A>G (p.Glu127Gly)
|
rs1216924776
|
0.00001
|
NM_022725.4(FANCF):c.436C>G (p.Leu146Val)
|
rs779428484
|
0.00001
|
NM_022725.4(FANCF):c.466A>G (p.Asn156Asp)
|
rs370979205
|
0.00001
|
NM_022725.4(FANCF):c.469C>T (p.Leu157Phe)
|
rs1060501870
|
0.00001
|
NM_022725.4(FANCF):c.580G>A (p.Glu194Lys)
|
rs893075597
|
0.00001
|
NM_022725.4(FANCF):c.583C>A (p.Arg195Ser)
|
rs1231820160
|
0.00001
|
NM_022725.4(FANCF):c.680A>G (p.His227Arg)
|
rs1248152779
|
0.00001
|
NM_022725.4(FANCF):c.705A>C (p.Gln235His)
|
rs768107677
|
0.00001
|
NM_022725.4(FANCF):c.812C>T (p.Ser271Phe)
|
rs1417824608
|
0.00001
|
NM_022725.4(FANCF):c.83C>G (p.Pro28Arg)
|
rs374063561
|
0.00001
|
NM_022725.4(FANCF):c.849A>C (p.Gln283His)
|
rs146848948
|
0.00001
|
NM_022725.4(FANCF):c.877A>G (p.Ile293Val)
|
rs780747014
|
0.00001
|
NM_022725.4(FANCF):c.907C>T (p.Pro303Ser)
|
rs199717587
|
0.00001
|
NM_022725.4(FANCF):c.936A>T (p.Gln312His)
|
rs371631248
|
0.00001
|
NM_024675.4(PALB2):c.-149G>A
|
rs886051832
|
0.00001
|
NM_024675.4(PALB2):c.-37C>T
|
rs1403573232
|
0.00001
|
NM_024675.4(PALB2):c.1079A>G (p.Asp360Gly)
|
rs876659751
|
0.00001
|
NM_024675.4(PALB2):c.1104T>A (p.Asn368Lys)
|
rs1348407391
|
0.00001
|
NM_024675.4(PALB2):c.1130A>C (p.Gln377Pro)
|
rs1358484245
|
0.00001
|
NM_024675.4(PALB2):c.113C>T (p.Ala38Val)
|
rs371875379
|
0.00001
|
NM_024675.4(PALB2):c.1145G>T (p.Ser382Ile)
|
rs515726063
|
0.00001
|
NM_024675.4(PALB2):c.1156A>G (p.Thr386Ala)
|
rs148102335
|
0.00001
|
NM_024675.4(PALB2):c.1178A>G (p.Lys393Arg)
|
rs765898856
|
0.00001
|
NM_024675.4(PALB2):c.127A>G (p.Lys43Glu)
|
rs765125459
|
0.00001
|
NM_024675.4(PALB2):c.1348A>C (p.Asn450His)
|
rs62625274
|
0.00001
|
NM_024675.4(PALB2):c.1364A>G (p.Asn455Ser)
|
rs587781824
|
0.00001
|
NM_024675.4(PALB2):c.1383T>A (p.Ser461Arg)
|
rs768482110
|
0.00001
|
NM_024675.4(PALB2):c.1526G>A (p.Gly509Asp)
|
rs786203176
|
0.00001
|
NM_024675.4(PALB2):c.1540G>A (p.Gly514Arg)
|
rs756778249
|
0.00001
|
NM_024675.4(PALB2):c.1610C>T (p.Ser537Leu)
|
rs142103232
|
0.00001
|
NM_024675.4(PALB2):c.1611G>A (p.Ser537=)
|
rs730881874
|
0.00001
|
NM_024675.4(PALB2):c.1628A>C (p.Lys543Thr)
|
rs370468259
|
0.00001
|
NM_024675.4(PALB2):c.1696C>T (p.Arg566Cys)
|
rs746582620
|
0.00001
|
NM_024675.4(PALB2):c.1733G>T (p.Ser578Ile)
|
rs587780207
|
0.00001
|
NM_024675.4(PALB2):c.1759G>A (p.Ala587Thr)
|
rs1060502733
|
0.00001
|
NM_024675.4(PALB2):c.2020G>A (p.Asp674Asn)
|
rs730881885
|
0.00001
|
NM_024675.4(PALB2):c.2026A>C (p.Ile676Leu)
|
rs761478794
|
0.00001
|
NM_024675.4(PALB2):c.2096C>G (p.Ser699Cys)
|
rs780397699
|
0.00001
|
NM_024675.4(PALB2):c.2129C>T (p.Thr710Met)
|
rs759024828
|
0.00001
|
NM_024675.4(PALB2):c.2134G>C (p.Ala712Pro)
|
rs765942523
|
0.00001
|
NM_024675.4(PALB2):c.2197A>G (p.Thr733Ala)
|
rs879254051
|
0.00001
|
NM_024675.4(PALB2):c.2277A>G (p.Gln759=)
|
rs786202524
|
0.00001
|
NM_024675.4(PALB2):c.2344C>T (p.Pro782Ser)
|
rs786203296
|
0.00001
|
NM_024675.4(PALB2):c.2356C>T (p.His786Tyr)
|
rs786203608
|
0.00001
|
NM_024675.4(PALB2):c.2411C>T (p.Ser804Phe)
|
rs149836639
|
0.00001
|
NM_024675.4(PALB2):c.2435C>T (p.Pro812Leu)
|
rs774502617
|
0.00001
|
NM_024675.4(PALB2):c.2512C>G (p.Gln838Glu)
|
rs750650768
|
0.00001
|
NM_024675.4(PALB2):c.2653C>A (p.Pro885Thr)
|
rs878855111
|
0.00001
|
NM_024675.4(PALB2):c.2659A>G (p.Ile887Val)
|
rs533814557
|
0.00001
|
NM_024675.4(PALB2):c.2821A>G (p.Ile941Val)
|
rs778602038
|
0.00001
|
NM_024675.4(PALB2):c.2869A>C (p.Lys957Gln)
|
rs515726103
|
0.00001
|
NM_024675.4(PALB2):c.2896A>G (p.Ile966Val)
|
rs786204248
|
0.00001
|
NM_024675.4(PALB2):c.2920A>G (p.Lys974Glu)
|
rs1418709183
|
0.00001
|
NM_024675.4(PALB2):c.3025C>T (p.Pro1009Ser)
|
rs764669864
|
0.00001
|
NM_024675.4(PALB2):c.303T>G (p.Asp101Glu)
|
rs1417779335
|
0.00001
|
NM_024675.4(PALB2):c.3073G>A (p.Ala1025Thr)
|
rs746872839
|
0.00001
|
NM_024675.4(PALB2):c.3106G>C (p.Val1036Leu)
|
rs756906403
|
0.00001
|
NM_024675.4(PALB2):c.3128G>C (p.Gly1043Ala)
|
rs377713277
|
0.00001
|
NM_024675.4(PALB2):c.315G>C (p.Glu105Asp)
|
rs515726108
|
0.00001
|
NM_024675.4(PALB2):c.3225T>A (p.Ser1075Arg)
|
rs202222149
|
0.00001
|
NM_024675.4(PALB2):c.3331C>G (p.Pro1111Ala)
|
rs864622193
|
0.00001
|
NM_024675.4(PALB2):c.3350+11A>G
|
rs515726114
|
0.00001
|
NM_024675.4(PALB2):c.3394T>C (p.Leu1132=)
|
rs1282821765
|
0.00001
|
NM_024675.4(PALB2):c.3451C>T (p.Leu1151Phe)
|
rs786203462
|
0.00001
|
NM_024675.4(PALB2):c.3494C>T (p.Ser1165Leu)
|
rs773829275
|
0.00001
|
NM_024675.4(PALB2):c.3538A>G (p.Ile1180Val)
|
rs863224788
|
0.00001
|
NM_024675.4(PALB2):c.37G>A (p.Glu13Lys)
|
rs373287455
|
0.00001
|
NM_024675.4(PALB2):c.495C>T (p.Gly165=)
|
rs200937538
|
0.00001
|
NM_024675.4(PALB2):c.541G>C (p.Glu181Gln)
|
rs864622280
|
0.00001
|
NM_024675.4(PALB2):c.718C>A (p.Pro240Thr)
|
rs757567654
|
0.00001
|
NM_024675.4(PALB2):c.739A>G (p.Thr247Ala)
|
rs786203040
|
0.00001
|
NM_024675.4(PALB2):c.814G>A (p.Glu272Lys)
|
rs515726127
|
0.00001
|
NM_024675.4(PALB2):c.828C>T (p.His276=)
|
rs911713488
|
0.00001
|
NM_024675.4(PALB2):c.833T>A (p.Leu278Gln)
|
rs200843485
|
0.00001
|
NM_024675.4(PALB2):c.968C>A (p.Ala323Glu)
|
rs730881882
|
0.00001
|
NM_025215.5(PUS1):c.-457G>C
|
rs1033621386
|
0.00001
|
NM_025215.6(PUS1):c.*192T>C
|
rs930371689
|
0.00001
|
NM_025215.6(PUS1):c.-80G>A
|
rs1215451501
|
0.00001
|
NM_025215.6(PUS1):c.1135G>A (p.Gly379Ser)
|
rs886049093
|
0.00001
|
NM_025215.6(PUS1):c.41G>A (p.Arg14Gln)
|
rs146103500
|
0.00001
|
NM_025215.6(PUS1):c.638A>G (p.Lys213Arg)
|
rs545204877
|
0.00001
|
NM_025215.6(PUS1):c.644G>A (p.Arg215Gln)
|
rs745345996
|
0.00001
|
NM_025215.6(PUS1):c.725C>T (p.Thr242Met)
|
rs886049092
|
0.00001
|
NM_025215.6(PUS1):c.894C>T (p.Val298=)
|
rs201908893
|
0.00001
|
NM_025215.6(PUS1):c.946C>T (p.Arg316Cys)
|
rs573837941
|
0.00001
|
NM_025215.6(PUS1):c.973G>A (p.Val325Met)
|
rs1156671661
|
0.00001
|
NM_030943.4(AMN):c.1064G>A (p.Gly355Asp)
|
rs1034430613
|
0.00001
|
NM_030943.4(AMN):c.108G>C (p.Trp36Cys)
|
rs199835580
|
0.00001
|
NM_030943.4(AMN):c.296-3C>T
|
rs764763091
|
0.00001
|
NM_030943.4(AMN):c.356G>T (p.Arg119Leu)
|
rs533436439
|
0.00001
|
NM_030943.4(AMN):c.790G>A (p.Ala264Thr)
|
rs1450455717
|
0.00001
|
NM_032043.3(BRIP1):c.*1239C>A
|
rs1042958451
|
0.00001
|
NM_032043.3(BRIP1):c.*1908T>C
|
rs1264916802
|
0.00001
|
NM_032043.3(BRIP1):c.*2522A>G
|
rs886053207
|
0.00001
|
NM_032043.3(BRIP1):c.*339G>C
|
rs886053212
|
0.00001
|
NM_032043.3(BRIP1):c.*3580T>A
|
rs372023591
|
0.00001
|
NM_032043.3(BRIP1):c.*3617T>C
|
rs886053198
|
0.00001
|
NM_032043.3(BRIP1):c.1018C>T (p.Leu340Phe)
|
rs755796609
|
0.00001
|
NM_032043.3(BRIP1):c.103G>A (p.Gly35Arg)
|
rs373104267
|
0.00001
|
NM_032043.3(BRIP1):c.1054T>C (p.Tyr352His)
|
rs730881632
|
0.00001
|
NM_032043.3(BRIP1):c.1055A>G (p.Tyr352Cys)
|
rs762417690
|
0.00001
|
NM_032043.3(BRIP1):c.1057T>C (p.Tyr353His)
|
rs1567831780
|
0.00001
|
NM_032043.3(BRIP1):c.1061C>T (p.Thr354Ile)
|
rs776939714
|
0.00001
|
NM_032043.3(BRIP1):c.1077A>G (p.Ile359Met)
|
rs730881634
|
0.00001
|
NM_032043.3(BRIP1):c.10A>G (p.Met4Val)
|
rs45512093
|
0.00001
|
NM_032043.3(BRIP1):c.1105T>C (p.Tyr369His)
|
rs587781325
|
0.00001
|
NM_032043.3(BRIP1):c.1109A>G (p.Asn370Ser)
|
rs777511615
|
0.00001
|
NM_032043.3(BRIP1):c.1114C>T (p.Leu372Phe)
|
rs786202637
|
0.00001
|
NM_032043.3(BRIP1):c.1184C>A (p.Ala395Asp)
|
rs778992385
|
0.00001
|
NM_032043.3(BRIP1):c.1187A>G (p.His396Arg)
|
rs996493095
|
0.00001
|
NM_032043.3(BRIP1):c.1192A>G (p.Ile398Val)
|
rs786203967
|
0.00001
|
NM_032043.3(BRIP1):c.1195G>A (p.Glu399Lys)
|
rs587782816
|
0.00001
|
NM_032043.3(BRIP1):c.1198G>T (p.Asp400Tyr)
|
rs764711572
|
0.00001
|
NM_032043.3(BRIP1):c.1202G>A (p.Cys401Tyr)
|
rs1340018456
|
0.00001
|
NM_032043.3(BRIP1):c.1208G>A (p.Arg403Gln)
|
rs786202780
|
0.00001
|
NM_032043.3(BRIP1):c.1216G>T (p.Ala406Ser)
|
rs1060501747
|
0.00001
|
NM_032043.3(BRIP1):c.1217C>T (p.Ala406Val)
|
rs767872861
|
0.00001
|
NM_032043.3(BRIP1):c.1247G>A (p.Arg416Gln)
|
rs772570870
|
0.00001
|
NM_032043.3(BRIP1):c.1256G>A (p.Arg419Gln)
|
rs748105919
|
0.00001
|
NM_032043.3(BRIP1):c.1268A>G (p.Asp423Gly)
|
rs746778889
|
0.00001
|
NM_032043.3(BRIP1):c.1283A>G (p.Asn428Ser)
|
rs779237423
|
0.00001
|
NM_032043.3(BRIP1):c.1286A>C (p.Asn429Thr)
|
rs587781463
|
0.00001
|
NM_032043.3(BRIP1):c.1297A>G (p.Lys433Glu)
|
rs2077947326
|
0.00001
|
NM_032043.3(BRIP1):c.1304A>G (p.His435Arg)
|
rs730881636
|
0.00001
|
NM_032043.3(BRIP1):c.1316G>A (p.Arg439Gln)
|
rs753214212
|
0.00001
|
NM_032043.3(BRIP1):c.1321G>A (p.Val441Met)
|
rs1060501782
|
0.00001
|
NM_032043.3(BRIP1):c.1322T>C (p.Val441Ala)
|
rs1458068665
|
0.00001
|
NM_032043.3(BRIP1):c.134A>G (p.Glu45Gly)
|
rs2078950725
|
0.00001
|
NM_032043.3(BRIP1):c.1357G>A (p.Ala453Thr)
|
rs587780227
|
0.00001
|
NM_032043.3(BRIP1):c.1361A>T (p.Glu454Val)
|
rs769918040
|
0.00001
|
NM_032043.3(BRIP1):c.1363T>A (p.Tyr455Asn)
|
rs587780826
|
0.00001
|
NM_032043.3(BRIP1):c.1369G>C (p.Val457Leu)
|
rs748221377
|
0.00001
|
NM_032043.3(BRIP1):c.1375A>G (p.Arg459Gly)
|
rs752052351
|
0.00001
|
NM_032043.3(BRIP1):c.143C>A (p.Thr48Lys)
|
rs755317452
|
0.00001
|
NM_032043.3(BRIP1):c.1441G>T (p.Gly481Cys)
|
rs587780229
|
0.00001
|
NM_032043.3(BRIP1):c.1442G>A (p.Gly481Asp)
|
rs200062099
|
0.00001
|
NM_032043.3(BRIP1):c.1467T>G (p.Ile489Met)
|
rs587780230
|
0.00001
|
NM_032043.3(BRIP1):c.1473+6A>G
|
rs587780827
|
0.00001
|
NM_032043.3(BRIP1):c.1474-3T>C
|
rs552752779
|
0.00001
|
NM_032043.3(BRIP1):c.1483T>C (p.Ser495Pro)
|
rs1555603617
|
0.00001
|
NM_032043.3(BRIP1):c.1532A>G (p.Glu511Gly)
|
rs1555603565
|
0.00001
|
NM_032043.3(BRIP1):c.1571A>G (p.Gln524Arg)
|
rs587781726
|
0.00001
|
NM_032043.3(BRIP1):c.1586G>A (p.Gly529Glu)
|
rs138784299
|
0.00001
|
NM_032043.3(BRIP1):c.1594A>G (p.Met532Val)
|
rs876658383
|
0.00001
|
NM_032043.3(BRIP1):c.1595T>C (p.Met532Thr)
|
rs1179705368
|
0.00001
|
NM_032043.3(BRIP1):c.1607A>G (p.Tyr536Cys)
|
rs1060501752
|
0.00001
|
NM_032043.3(BRIP1):c.1641T>G (p.Asp547Glu)
|
rs754414731
|
0.00001
|
NM_032043.3(BRIP1):c.1650T>G (p.Ile550Met)
|
rs587782254
|
0.00001
|
NM_032043.3(BRIP1):c.1651G>A (p.Ala551Thr)
|
rs766302517
|
0.00001
|
NM_032043.3(BRIP1):c.1670C>T (p.Ser557Phe)
|
rs1375911072
|
0.00001
|
NM_032043.3(BRIP1):c.1672T>C (p.Trp558Arg)
|
rs767648925
|
0.00001
|
NM_032043.3(BRIP1):c.1684A>G (p.Ile562Val)
|
rs45533636
|
0.00001
|
NM_032043.3(BRIP1):c.1696G>A (p.Asp566Asn)
|
rs1289102059
|
0.00001
|
NM_032043.3(BRIP1):c.1704T>G (p.Asn568Lys)
|
rs763458922
|
0.00001
|
NM_032043.3(BRIP1):c.170T>G (p.Leu57Arg)
|
rs1435822764
|
0.00001
|
NM_032043.3(BRIP1):c.1717C>G (p.Leu573Val)
|
rs786202587
|
0.00001
|
NM_032043.3(BRIP1):c.1730A>T (p.Lys577Met)
|
rs1411869768
|
0.00001
|
NM_032043.3(BRIP1):c.1742G>A (p.Arg581Gln)
|
rs587778133
|
0.00001
|
NM_032043.3(BRIP1):c.1748A>G (p.Lys583Arg)
|
rs876658547
|
0.00001
|
NM_032043.3(BRIP1):c.1754C>A (p.Ala585Glu)
|
rs756946068
|
0.00001
|
NM_032043.3(BRIP1):c.1771T>A (p.Phe591Ile)
|
rs876661057
|
0.00001
|
NM_032043.3(BRIP1):c.1800T>G (p.Phe600Leu)
|
rs375625993
|
0.00001
|
NM_032043.3(BRIP1):c.1801T>G (p.Ser601Ala)
|
rs1317946589
|
0.00001
|
NM_032043.3(BRIP1):c.1804G>T (p.Asp602Tyr)
|
rs770750488
|
0.00001
|
NM_032043.3(BRIP1):c.1838C>G (p.Thr613Arg)
|
rs864622345
|
0.00001
|
NM_032043.3(BRIP1):c.1873T>C (p.Ser625Pro)
|
rs935011040
|
0.00001
|
NM_032043.3(BRIP1):c.1903C>A (p.Leu635Met)
|
rs754280136
|
0.00001
|
NM_032043.3(BRIP1):c.1935G>C (p.Gln645His)
|
rs1254051324
|
0.00001
|
NM_032043.3(BRIP1):c.1942G>A (p.Val648Ile)
|
rs780475484
|
0.00001
|
NM_032043.3(BRIP1):c.1952T>C (p.Ile651Thr)
|
rs757305097
|
0.00001
|
NM_032043.3(BRIP1):c.1969G>C (p.Gly657Arg)
|
rs1051619247
|
0.00001
|
NM_032043.3(BRIP1):c.1981T>C (p.Cys661Arg)
|
rs876660402
|
0.00001
|
NM_032043.3(BRIP1):c.1984G>A (p.Ala662Thr)
|
rs571340013
|
0.00001
|
NM_032043.3(BRIP1):c.19G>C (p.Glu7Gln)
|
rs1246321339
|
0.00001
|
NM_032043.3(BRIP1):c.1A>G (p.Met1Val)
|
rs764585550
|
0.00001
|
NM_032043.3(BRIP1):c.2048T>G (p.Val683Gly)
|
rs1294492499
|
0.00001
|
NM_032043.3(BRIP1):c.2056A>G (p.Thr686Ala)
|
rs769820537
|
0.00001
|
NM_032043.3(BRIP1):c.205G>A (p.Gly69Arg)
|
rs372581879
|
0.00001
|
NM_032043.3(BRIP1):c.206-2A>G
|
rs786203700
|
0.00001
|
NM_032043.3(BRIP1):c.2069G>A (p.Gly690Glu)
|
rs878855144
|
0.00001
|
NM_032043.3(BRIP1):c.2071A>C (p.Ile691Leu)
|
rs587782356
|
0.00001
|
NM_032043.3(BRIP1):c.2107A>C (p.Lys703Gln)
|
rs762590242
|
0.00001
|
NM_032043.3(BRIP1):c.2119C>T (p.Arg707Cys)
|
rs764803896
|
0.00001
|
NM_032043.3(BRIP1):c.2167G>A (p.Val723Ile)
|
rs145616741
|
0.00001
|
NM_032043.3(BRIP1):c.2179C>G (p.Pro727Ala)
|
rs769797684
|
0.00001
|
NM_032043.3(BRIP1):c.2203T>C (p.Phe735Leu)
|
rs1353526212
|
0.00001
|
NM_032043.3(BRIP1):c.2247A>T (p.Lys749Asn)
|
rs587782556
|
0.00001
|
NM_032043.3(BRIP1):c.2257+5C>T
|
rs1057523068
|
0.00001
|
NM_032043.3(BRIP1):c.2257+6_2257+7del
|
rs1255940179
|
0.00001
|
NM_032043.3(BRIP1):c.2258A>G (p.Asp753Gly)
|
rs745578572
|
0.00001
|
NM_032043.3(BRIP1):c.226G>A (p.Val76Ile)
|
rs769573395
|
0.00001
|
NM_032043.3(BRIP1):c.2281T>G (p.Cys761Gly)
|
rs1422958547
|
0.00001
|
NM_032043.3(BRIP1):c.2284C>T (p.Arg762Cys)
|
rs587778136
|
0.00001
|
NM_032043.3(BRIP1):c.2330G>A (p.Arg777His)
|
rs747568830
|
0.00001
|
NM_032043.3(BRIP1):c.2338A>C (p.Ile780Leu)
|
rs776131401
|
0.00001
|
NM_032043.3(BRIP1):c.2344A>G (p.Ile782Val)
|
rs142806416
|
0.00001
|
NM_032043.3(BRIP1):c.2345T>C (p.Ile782Thr)
|
rs778758437
|
0.00001
|
NM_032043.3(BRIP1):c.2371G>T (p.Asp791Tyr)
|
rs1289778155
|
0.00001
|
NM_032043.3(BRIP1):c.2380-3T>A
|
rs587782542
|
0.00001
|
NM_032043.3(BRIP1):c.2390A>G (p.Lys797Arg)
|
rs730881622
|
0.00001
|
NM_032043.3(BRIP1):c.2393G>A (p.Arg798Gln)
|
rs375082407
|
0.00001
|
NM_032043.3(BRIP1):c.2402A>G (p.Asn801Ser)
|
rs1325317591
|
0.00001
|
NM_032043.3(BRIP1):c.2428C>G (p.Leu810Val)
|
rs587780238
|
0.00001
|
NM_032043.3(BRIP1):c.2441G>A (p.Arg814His)
|
rs45468199
|
0.00001
|
NM_032043.3(BRIP1):c.2464T>C (p.Tyr822His)
|
rs760887592
|
0.00001
|
NM_032043.3(BRIP1):c.2477A>G (p.Asn826Ser)
|
rs760127237
|
0.00001
|
NM_032043.3(BRIP1):c.2492+5G>A
|
rs763222019
|
0.00001
|
NM_032043.3(BRIP1):c.2535G>A (p.Val845=)
|
rs1555574772
|
0.00001
|
NM_032043.3(BRIP1):c.254C>T (p.Ser85Leu)
|
rs587781830
|
0.00001
|
NM_032043.3(BRIP1):c.2569A>G (p.Ile857Val)
|
rs28904918
|
0.00001
|
NM_032043.3(BRIP1):c.2571A>G (p.Ile857Met)
|
rs1427254734
|
0.00001
|
NM_032043.3(BRIP1):c.2575+4A>G
|
rs758858747
|
0.00001
|
NM_032043.3(BRIP1):c.2579T>C (p.Leu860Pro)
|
rs587780242
|
0.00001
|
NM_032043.3(BRIP1):c.2582C>G (p.Ser861Cys)
|
rs774415723
|
0.00001
|
NM_032043.3(BRIP1):c.2594G>A (p.Arg865Gln)
|
rs781609846
|
0.00001
|
NM_032043.3(BRIP1):c.2617A>G (p.Thr873Ala)
|
rs758444508
|
0.00001
|
NM_032043.3(BRIP1):c.2623G>C (p.Glu875Gln)
|
rs876659099
|
0.00001
|
NM_032043.3(BRIP1):c.2648A>C (p.Glu883Ala)
|
rs1453990721
|
0.00001
|
NM_032043.3(BRIP1):c.2671G>C (p.Val891Leu)
|
rs754224663
|
0.00001
|
NM_032043.3(BRIP1):c.2686A>G (p.Ile896Val)
|
rs764406913
|
0.00001
|
NM_032043.3(BRIP1):c.269G>A (p.Cys90Tyr)
|
rs1221074399
|
0.00001
|
NM_032043.3(BRIP1):c.2705T>C (p.Ile902Thr)
|
rs1060501781
|
0.00001
|
NM_032043.3(BRIP1):c.2706A>G (p.Ile902Met)
|
rs587780244
|
0.00001
|
NM_032043.3(BRIP1):c.2723C>T (p.Thr908Ile)
|
rs786201919
|
0.00001
|
NM_032043.3(BRIP1):c.2728G>A (p.Glu910Lys)
|
rs1007808618
|
0.00001
|
NM_032043.3(BRIP1):c.2776G>A (p.Ala926Thr)
|
rs1003917080
|
0.00001
|
NM_032043.3(BRIP1):c.2788T>C (p.Ser930Pro)
|
rs1384396768
|
0.00001
|
NM_032043.3(BRIP1):c.2800T>G (p.Phe934Val)
|
rs863224801
|
0.00001
|
NM_032043.3(BRIP1):c.2801T>C (p.Phe934Ser)
|
rs778916092
|
0.00001
|
NM_032043.3(BRIP1):c.2802T>G (p.Phe934Leu)
|
rs1259968679
|
0.00001
|
NM_032043.3(BRIP1):c.2811T>C (p.Asp937=)
|
rs374335608
|
0.00001
|
NM_032043.3(BRIP1):c.2816C>G (p.Ala939Gly)
|
rs756490117
|
0.00001
|
NM_032043.3(BRIP1):c.281A>G (p.Asp94Gly)
|
rs529201896
|
0.00001
|
NM_032043.3(BRIP1):c.2833G>C (p.Glu945Gln)
|
rs863224802
|
0.00001
|
NM_032043.3(BRIP1):c.2867C>T (p.Ser956Leu)
|
rs761639530
|
0.00001
|
NM_032043.3(BRIP1):c.2885T>C (p.Ile962Thr)
|
rs786201632
|
0.00001
|
NM_032043.3(BRIP1):c.2900A>G (p.Glu967Gly)
|
rs1176224216
|
0.00001
|
NM_032043.3(BRIP1):c.2902A>G (p.Lys968Glu)
|
rs587782679
|
0.00001
|
NM_032043.3(BRIP1):c.2905+3A>G
|
rs1555573247
|
0.00001
|
NM_032043.3(BRIP1):c.2906-1G>A
|
rs773639563
|
0.00001
|
NM_032043.3(BRIP1):c.2914G>A (p.Val972Ile)
|
rs786203224
|
0.00001
|
NM_032043.3(BRIP1):c.2930C>T (p.Ala977Val)
|
rs770352467
|
0.00001
|
NM_032043.3(BRIP1):c.2935A>G (p.Lys979Glu)
|
rs730881627
|
0.00001
|
NM_032043.3(BRIP1):c.293A>G (p.Asn98Ser)
|
rs781121675
|
0.00001
|
NM_032043.3(BRIP1):c.2948T>A (p.Ile983Asn)
|
rs587781417
|
0.00001
|
NM_032043.3(BRIP1):c.2957C>G (p.Ser986Cys)
|
rs182087528
|
0.00001
|
NM_032043.3(BRIP1):c.2979C>G (p.Phe993Leu)
|
rs1060501756
|
0.00001
|
NM_032043.3(BRIP1):c.2995A>G (p.Arg999Gly)
|
rs2061323811
|
0.00001
|
NM_032043.3(BRIP1):c.29T>C (p.Ile10Thr)
|
rs786203418
|
0.00001
|
NM_032043.3(BRIP1):c.3037A>G (p.Thr1013Ala)
|
rs1278002478
|
0.00001
|
NM_032043.3(BRIP1):c.3038C>T (p.Thr1013Ile)
|
rs1372474933
|
0.00001
|
NM_032043.3(BRIP1):c.3043A>G (p.Lys1015Glu)
|
rs769692303
|
0.00001
|
NM_032043.3(BRIP1):c.3050C>T (p.Pro1017Leu)
|
rs747907706
|
0.00001
|
NM_032043.3(BRIP1):c.3058A>G (p.Thr1020Ala)
|
rs1064793073
|
0.00001
|
NM_032043.3(BRIP1):c.3070G>A (p.Gly1024Arg)
|
rs147119272
|
0.00001
|
NM_032043.3(BRIP1):c.3071G>T (p.Gly1024Val)
|
rs587781744
|
0.00001
|
NM_032043.3(BRIP1):c.3083A>T (p.Asn1028Ile)
|
rs1060501762
|
0.00001
|
NM_032043.3(BRIP1):c.3093T>C (p.Ser1031=)
|
rs937490699
|
0.00001
|
NM_032043.3(BRIP1):c.3096T>G (p.Ser1032Arg)
|
rs763162379
|
0.00001
|
NM_032043.3(BRIP1):c.3101C>T (p.Pro1034Leu)
|
rs1199923024
|
0.00001
|
NM_032043.3(BRIP1):c.3122T>C (p.Met1041Thr)
|
rs761225576
|
0.00001
|
NM_032043.3(BRIP1):c.3140T>C (p.Leu1047Ser)
|
rs786203344
|
0.00001
|
NM_032043.3(BRIP1):c.3149C>A (p.Thr1050Asn)
|
rs373040333
|
0.00001
|
NM_032043.3(BRIP1):c.3154A>G (p.Lys1052Glu)
|
rs1285783476
|
0.00001
|
NM_032043.3(BRIP1):c.3178G>A (p.Val1060Ile)
|
rs149016505
|
0.00001
|
NM_032043.3(BRIP1):c.3187T>C (p.Ser1063Pro)
|
rs2061317060
|
0.00001
|
NM_032043.3(BRIP1):c.3197C>T (p.Ser1066Leu)
|
rs1567728809
|
0.00001
|
NM_032043.3(BRIP1):c.3199T>A (p.Cys1067Ser)
|
rs878855153
|
0.00001
|
NM_032043.3(BRIP1):c.320A>G (p.His107Arg)
|
rs876659809
|
0.00001
|
NM_032043.3(BRIP1):c.3215C>T (p.Thr1072Ile)
|
rs786204068
|
0.00001
|
NM_032043.3(BRIP1):c.3236T>C (p.Ile1079Thr)
|
rs150813402
|
0.00001
|
NM_032043.3(BRIP1):c.3238G>A (p.Asp1080Asn)
|
rs786204230
|
0.00001
|
NM_032043.3(BRIP1):c.3260A>G (p.Asn1087Ser)
|
rs786202024
|
0.00001
|
NM_032043.3(BRIP1):c.3262C>T (p.His1088Tyr)
|
rs878855154
|
0.00001
|
NM_032043.3(BRIP1):c.326A>G (p.Asn109Ser)
|
rs587782734
|
0.00001
|
NM_032043.3(BRIP1):c.3272A>G (p.His1091Arg)
|
rs776129117
|
0.00001
|
NM_032043.3(BRIP1):c.3273T>G (p.His1091Gln)
|
rs1281827397
|
0.00001
|
NM_032043.3(BRIP1):c.3274C>T (p.Pro1092Ser)
|
rs768065626
|
0.00001
|
NM_032043.3(BRIP1):c.3275C>T (p.Pro1092Leu)
|
rs587780830
|
0.00001
|
NM_032043.3(BRIP1):c.328_333dup (p.Tyr110_Pro111dup)
|
rs1423363607
|
0.00001
|
NM_032043.3(BRIP1):c.3290A>C (p.Glu1097Ala)
|
rs876658746
|
0.00001
|
NM_032043.3(BRIP1):c.3308T>A (p.Ile1103Asn)
|
rs781102464
|
0.00001
|
NM_032043.3(BRIP1):c.3326G>A (p.Ser1109Asn)
|
rs2061311430
|
0.00001
|
NM_032043.3(BRIP1):c.3388A>G (p.Ile1130Val)
|
rs786202549
|
0.00001
|
NM_032043.3(BRIP1):c.338C>T (p.Thr113Ile)
|
rs778480809
|
0.00001
|
NM_032043.3(BRIP1):c.3441T>G (p.Asn1147Lys)
|
rs1603275034
|
0.00001
|
NM_032043.3(BRIP1):c.3448G>C (p.Ala1150Pro)
|
rs757363615
|
0.00001
|
NM_032043.3(BRIP1):c.3460A>G (p.Arg1154Gly)
|
rs769359514
|
0.00001
|
NM_032043.3(BRIP1):c.3464G>A (p.Gly1155Glu)
|
rs45603843
|
0.00001
|
NM_032043.3(BRIP1):c.3492C>A (p.Cys1164Ter)
|
rs2061304701
|
0.00001
|
NM_032043.3(BRIP1):c.3493A>C (p.Ile1165Leu)
|
rs771889454
|
0.00001
|
NM_032043.3(BRIP1):c.3499G>A (p.Ala1167Thr)
|
rs1555572570
|
0.00001
|
NM_032043.3(BRIP1):c.3505G>T (p.Asp1169Tyr)
|
rs587782029
|
0.00001
|
NM_032043.3(BRIP1):c.3507C>A (p.Asp1169Glu)
|
rs375741316
|
0.00001
|
NM_032043.3(BRIP1):c.3525dup (p.Ile1176fs)
|
rs777367075
|
0.00001
|
NM_032043.3(BRIP1):c.3529A>C (p.Lys1177Gln)
|
rs756313788
|
0.00001
|
NM_032043.3(BRIP1):c.3533A>T (p.Glu1178Val)
|
rs752850661
|
0.00001
|
NM_032043.3(BRIP1):c.3556A>G (p.Lys1186Glu)
|
rs766709841
|
0.00001
|
NM_032043.3(BRIP1):c.3578C>T (p.Thr1193Ile)
|
rs1368343911
|
0.00001
|
NM_032043.3(BRIP1):c.3605A>G (p.Glu1202Gly)
|
rs776010326
|
0.00001
|
NM_032043.3(BRIP1):c.361A>G (p.Thr121Ala)
|
rs1567874478
|
0.00001
|
NM_032043.3(BRIP1):c.3620A>T (p.Asp1207Val)
|
rs139539831
|
0.00001
|
NM_032043.3(BRIP1):c.3693A>G (p.Ile1231Met)
|
rs1046992728
|
0.00001
|
NM_032043.3(BRIP1):c.3699C>A (p.Asn1233Lys)
|
rs1060501734
|
0.00001
|
NM_032043.3(BRIP1):c.3727G>T (p.Gly1243Cys)
|
rs587780250
|
0.00001
|
NM_032043.3(BRIP1):c.3739G>A (p.Gly1247Ser)
|
rs1196057129
|
0.00001
|
NM_032043.3(BRIP1):c.3743T>G (p.Phe1248Cys)
|
rs763579793
|
0.00001
|
NM_032043.3(BRIP1):c.379G>A (p.Asp127Asn)
|
rs1311206718
|
0.00001
|
NM_032043.3(BRIP1):c.448G>A (p.Glu150Lys)
|
rs762701532
|
0.00001
|
NM_032043.3(BRIP1):c.509T>G (p.Ile170Ser)
|
rs1265322103
|
0.00001
|
NM_032043.3(BRIP1):c.53C>T (p.Pro18Leu)
|
rs1415589484
|
0.00001
|
NM_032043.3(BRIP1):c.569G>A (p.Gly190Glu)
|
rs756269682
|
0.00001
|
NM_032043.3(BRIP1):c.56A>G (p.Tyr19Cys)
|
rs876660880
|
0.00001
|
NM_032043.3(BRIP1):c.612C>G (p.Ser204=)
|
rs587780832
|
0.00001
|
NM_032043.3(BRIP1):c.627+5G>A
|
rs745727200
|
0.00001
|
NM_032043.3(BRIP1):c.641G>C (p.Cys214Ser)
|
rs779409059
|
0.00001
|
NM_032043.3(BRIP1):c.655T>C (p.Cys219Arg)
|
rs730881630
|
0.00001
|
NM_032043.3(BRIP1):c.668A>G (p.Gln223Arg)
|
rs786203708
|
0.00001
|
NM_032043.3(BRIP1):c.679C>G (p.Gln227Glu)
|
rs45459799
|
0.00001
|
NM_032043.3(BRIP1):c.68C>T (p.Pro23Leu)
|
rs1292425366
|
0.00001
|
NM_032043.3(BRIP1):c.712A>C (p.Thr238Pro)
|
rs1490001091
|
0.00001
|
NM_032043.3(BRIP1):c.721T>C (p.Ser241Pro)
|
rs771542690
|
0.00001
|
NM_032043.3(BRIP1):c.752G>A (p.Arg251His)
|
rs780834054
|
0.00001
|
NM_032043.3(BRIP1):c.773A>G (p.Gln258Arg)
|
rs1567838078
|
0.00001
|
NM_032043.3(BRIP1):c.774G>C (p.Gln258His)
|
rs1198536492
|
0.00001
|
NM_032043.3(BRIP1):c.787C>T (p.Leu263Phe)
|
rs1060501776
|
0.00001
|
NM_032043.3(BRIP1):c.799G>A (p.Ala267Thr)
|
rs865910081
|
0.00001
|
NM_032043.3(BRIP1):c.808G>T (p.Gly270Trp)
|
rs1401241698
|
0.00001
|
NM_032043.3(BRIP1):c.823A>G (p.Ile275Val)
|
rs587781425
|
0.00001
|
NM_032043.3(BRIP1):c.845C>G (p.Thr282Ser)
|
rs45624635
|
0.00001
|
NM_032043.3(BRIP1):c.869G>A (p.Gly290Asp)
|
rs148556781
|
0.00001
|
NM_032043.3(BRIP1):c.878A>G (p.Asn293Ser)
|
rs746599076
|
0.00001
|
NM_032043.3(BRIP1):c.932A>G (p.Tyr311Cys)
|
rs587782731
|
0.00001
|
NM_032043.3(BRIP1):c.963T>A (p.Asp321Glu)
|
rs1555607779
|
0.00001
|
NM_032043.3(BRIP1):c.97C>T (p.Leu33Phe)
|
rs772319724
|
0.00001
|
NM_032043.3(BRIP1):c.991A>T (p.Met331Leu)
|
rs1380876424
|
0.00001
|
NM_032444.4(SLX4):c.*1047G>A
|
rs1485693438
|
0.00001
|
NM_032444.4(SLX4):c.*1150G>C
|
rs886051972
|
0.00001
|
NM_032444.4(SLX4):c.*73G>A
|
rs1461608259
|
0.00001
|
NM_032444.4(SLX4):c.*811G>C
|
rs371879504
|
0.00001
|
NM_032444.4(SLX4):c.*871A>G
|
rs886051974
|
0.00001
|
NM_032444.4(SLX4):c.*957C>T
|
rs886051973
|
0.00001
|
NM_032444.4(SLX4):c.-112C>A
|
rs779687936
|
0.00001
|
NM_032444.4(SLX4):c.-205G>A
|
rs937724885
|
0.00001
|
NM_032444.4(SLX4):c.-616C>T
|
rs886051988
|
0.00001
|
NM_032444.4(SLX4):c.1034C>A (p.Thr345Asn)
|
rs751770341
|
0.00001
|
NM_032444.4(SLX4):c.1054C>T (p.His352Tyr)
|
rs1247465227
|
0.00001
|
NM_032444.4(SLX4):c.1109C>T (p.Ala370Val)
|
rs189224493
|
0.00001
|
NM_032444.4(SLX4):c.111C>A (p.Ser37Arg)
|
rs188729744
|
0.00001
|
NM_032444.4(SLX4):c.112C>T (p.Leu38Phe)
|
rs141167501
|
0.00001
|
NM_032444.4(SLX4):c.1139G>A (p.Gly380Asp)
|
rs1052888437
|
0.00001
|
NM_032444.4(SLX4):c.1162A>T (p.Ser388Cys)
|
rs199774640
|
0.00001
|
NM_032444.4(SLX4):c.1163+5G>A
|
rs762454252
|
0.00001
|
NM_032444.4(SLX4):c.1178G>A (p.Ser393Asn)
|
rs112301713
|
0.00001
|
NM_032444.4(SLX4):c.1189A>G (p.Lys397Glu)
|
rs202204661
|
0.00001
|
NM_032444.4(SLX4):c.1285C>T (p.Arg429Trp)
|
rs532023958
|
0.00001
|
NM_032444.4(SLX4):c.1301C>T (p.Pro434Leu)
|
rs763337738
|
0.00001
|
NM_032444.4(SLX4):c.1307C>T (p.Ala436Val)
|
rs773539191
|
0.00001
|
NM_032444.4(SLX4):c.1324A>C (p.Arg442=)
|
rs886051980
|
0.00001
|
NM_032444.4(SLX4):c.13G>A (p.Val5Met)
|
rs750091754
|
0.00001
|
NM_032444.4(SLX4):c.1429G>C (p.Glu477Gln)
|
rs748957904
|
0.00001
|
NM_032444.4(SLX4):c.1456C>T (p.Arg486Cys)
|
rs1483311055
|
0.00001
|
NM_032444.4(SLX4):c.1457G>A (p.Arg486His)
|
rs558236399
|
0.00001
|
NM_032444.4(SLX4):c.1462G>A (p.Ala488Thr)
|
rs2040677379
|
0.00001
|
NM_032444.4(SLX4):c.1490T>C (p.Leu497Ser)
|
rs200337039
|
0.00001
|
NM_032444.4(SLX4):c.1493C>T (p.Ser498Phe)
|
rs1326014010
|
0.00001
|
NM_032444.4(SLX4):c.1537T>C (p.Trp513Arg)
|
rs769495113
|
0.00001
|
NM_032444.4(SLX4):c.1555T>C (p.Cys519Arg)
|
rs746419738
|
0.00001
|
NM_032444.4(SLX4):c.1597G>C (p.Gly533Arg)
|
rs200437227
|
0.00001
|
NM_032444.4(SLX4):c.1603G>A (p.Ala535Thr)
|
rs776394340
|
0.00001
|
NM_032444.4(SLX4):c.1627G>A (p.Glu543Lys)
|
rs377148341
|
0.00001
|
NM_032444.4(SLX4):c.1630G>A (p.Asp544Asn)
|
rs773395054
|
0.00001
|
NM_032444.4(SLX4):c.1639A>C (p.Thr547Pro)
|
rs781416857
|
0.00001
|
NM_032444.4(SLX4):c.1673G>A (p.Arg558Gln)
|
rs773558127
|
0.00001
|
NM_032444.4(SLX4):c.1691T>C (p.Met564Thr)
|
rs1315121473
|
0.00001
|
NM_032444.4(SLX4):c.1714G>A (p.Val572Met)
|
rs745678074
|
0.00001
|
NM_032444.4(SLX4):c.1715T>A (p.Val572Glu)
|
rs551757021
|
0.00001
|
NM_032444.4(SLX4):c.1739G>A (p.Ser580Asn)
|
rs755653940
|
0.00001
|
NM_032444.4(SLX4):c.1745G>A (p.Arg582Gln)
|
rs755044096
|
0.00001
|
NM_032444.4(SLX4):c.1753C>T (p.Pro585Ser)
|
rs2040658116
|
0.00001
|
NM_032444.4(SLX4):c.1765G>A (p.Gly589Ser)
|
rs553750741
|
0.00001
|
NM_032444.4(SLX4):c.1795G>T (p.Gly599Cys)
|
rs770845528
|
0.00001
|
NM_032444.4(SLX4):c.1805C>T (p.Pro602Leu)
|
rs956483964
|
0.00001
|
NM_032444.4(SLX4):c.1810G>A (p.Ala604Thr)
|
rs2040655815
|
0.00001
|
NM_032444.4(SLX4):c.1811C>G (p.Ala604Gly)
|
rs953252183
|
0.00001
|
NM_032444.4(SLX4):c.1841A>T (p.Asp614Val)
|
rs966027727
|
0.00001
|
NM_032444.4(SLX4):c.1856C>T (p.Ala619Val)
|
rs371325486
|
0.00001
|
NM_032444.4(SLX4):c.1910C>T (p.Ser637Leu)
|
rs200475686
|
0.00001
|
NM_032444.4(SLX4):c.1919C>A (p.Thr640Asn)
|
rs1340467468
|
0.00001
|
NM_032444.4(SLX4):c.1933G>A (p.Val645Met)
|
rs769084265
|
0.00001
|
NM_032444.4(SLX4):c.194A>G (p.His65Arg)
|
rs1003415542
|
0.00001
|
NM_032444.4(SLX4):c.1952C>T (p.Pro651Leu)
|
rs1490630727
|
0.00001
|
NM_032444.4(SLX4):c.1976C>T (p.Ser659Leu)
|
rs372150541
|
0.00001
|
NM_032444.4(SLX4):c.199A>G (p.Ile67Val)
|
rs751802145
|
0.00001
|
NM_032444.4(SLX4):c.2020C>T (p.Leu674Phe)
|
rs777279668
|
0.00001
|
NM_032444.4(SLX4):c.2021T>G (p.Leu674Arg)
|
rs889646690
|
0.00001
|
NM_032444.4(SLX4):c.2038G>C (p.Asp680His)
|
rs1041739465
|
0.00001
|
NM_032444.4(SLX4):c.2077G>A (p.Val693Ile)
|
rs2040629635
|
0.00001
|
NM_032444.4(SLX4):c.2090C>T (p.Thr697Met)
|
rs554989399
|
0.00001
|
NM_032444.4(SLX4):c.2099G>A (p.Gly700Glu)
|
rs373081094
|
0.00001
|
NM_032444.4(SLX4):c.2114C>T (p.Ala705Val)
|
rs1262656321
|
0.00001
|
NM_032444.4(SLX4):c.2132A>T (p.Tyr711Phe)
|
rs768477511
|
0.00001
|
NM_032444.4(SLX4):c.2153T>G (p.Ile718Ser)
|
rs770015489
|
0.00001
|
NM_032444.4(SLX4):c.2208G>C (p.Gln736His)
|
rs1293011888
|
0.00001
|
NM_032444.4(SLX4):c.2227G>A (p.Val743Met)
|
rs747832147
|
0.00001
|
NM_032444.4(SLX4):c.2236G>A (p.Glu746Lys)
|
rs758785487
|
0.00001
|
NM_032444.4(SLX4):c.2242G>A (p.Ala748Thr)
|
rs373178144
|
0.00001
|
NM_032444.4(SLX4):c.2245C>T (p.Arg749Cys)
|
rs753926402
|
0.00001
|
NM_032444.4(SLX4):c.2269A>G (p.Thr757Ala)
|
rs1567171612
|
0.00001
|
NM_032444.4(SLX4):c.2273C>T (p.Ala758Val)
|
rs747563780
|
0.00001
|
NM_032444.4(SLX4):c.2274G>A (p.Ala758=)
|
rs780854919
|
0.00001
|
NM_032444.4(SLX4):c.2334C>T (p.Gly778=)
|
rs1235572029
|
0.00001
|
NM_032444.4(SLX4):c.2360A>G (p.Glu787Gly)
|
rs1596522964
|
0.00001
|
NM_032444.4(SLX4):c.2389G>A (p.Gly797Ser)
|
rs373595621
|
0.00001
|
NM_032444.4(SLX4):c.2425G>A (p.Glu809Lys)
|
rs546657275
|
0.00001
|
NM_032444.4(SLX4):c.2432G>A (p.Arg811Lys)
|
rs778547872
|
0.00001
|
NM_032444.4(SLX4):c.2438A>G (p.Glu813Gly)
|
rs748712996
|
0.00001
|
NM_032444.4(SLX4):c.2464A>G (p.Met822Val)
|
rs779985555
|
0.00001
|
NM_032444.4(SLX4):c.247G>A (p.Gly83Ser)
|
rs200319106
|
0.00001
|
NM_032444.4(SLX4):c.2489C>T (p.Ala830Val)
|
rs757069261
|
0.00001
|
NM_032444.4(SLX4):c.2499G>T (p.Leu833Phe)
|
rs764020001
|
0.00001
|
NM_032444.4(SLX4):c.2513A>G (p.Asp838Gly)
|
rs1060501794
|
0.00001
|
NM_032444.4(SLX4):c.2518G>A (p.Glu840Lys)
|
rs759271070
|
0.00001
|
NM_032444.4(SLX4):c.2557G>C (p.Glu853Gln)
|
rs1465800756
|
0.00001
|
NM_032444.4(SLX4):c.2579C>T (p.Thr860Ile)
|
rs747515305
|
0.00001
|
NM_032444.4(SLX4):c.2584C>T (p.Arg862Ter)
|
rs200715208
|
0.00001
|
NM_032444.4(SLX4):c.2606G>C (p.Arg869Thr)
|
rs779039237
|
0.00001
|
NM_032444.4(SLX4):c.2621G>A (p.Gly874Asp)
|
rs150402424
|
0.00001
|
NM_032444.4(SLX4):c.2629G>A (p.Ala877Thr)
|
rs761296000
|
0.00001
|
NM_032444.4(SLX4):c.2684A>G (p.Gln895Arg)
|
rs779708181
|
0.00001
|
NM_032444.4(SLX4):c.2776T>C (p.Cys926Arg)
|
rs201703364
|
0.00001
|
NM_032444.4(SLX4):c.2779G>A (p.Ala927Thr)
|
rs767916829
|
0.00001
|
NM_032444.4(SLX4):c.2828C>A (p.Ala943Asp)
|
rs745380963
|
0.00001
|
NM_032444.4(SLX4):c.2878A>T (p.Ser960Cys)
|
rs772190416
|
0.00001
|
NM_032444.4(SLX4):c.2892C>G (p.Asp964Glu)
|
rs1311904834
|
0.00001
|
NM_032444.4(SLX4):c.2896C>G (p.Gln966Glu)
|
rs770456496
|
0.00001
|
NM_032444.4(SLX4):c.2902G>C (p.Glu968Gln)
|
rs777514343
|
0.00001
|
NM_032444.4(SLX4):c.2928C>G (p.His976Gln)
|
rs1054086781
|
0.00001
|
NM_032444.4(SLX4):c.3004A>G (p.Ser1002Gly)
|
rs1047744954
|
0.00001
|
NM_032444.4(SLX4):c.3041G>A (p.Arg1014Lys)
|
rs756448789
|
0.00001
|
NM_032444.4(SLX4):c.3087A>T (p.Pro1029=)
|
rs746254787
|
0.00001
|
NM_032444.4(SLX4):c.3122A>T (p.Gln1041Leu)
|
rs1384033342
|
0.00001
|
NM_032444.4(SLX4):c.3124G>C (p.Gly1042Arg)
|
rs750349545
|
0.00001
|
NM_032444.4(SLX4):c.3139G>A (p.Gly1047Arg)
|
rs561815282
|
0.00001
|
NM_032444.4(SLX4):c.3153A>G (p.Thr1051=)
|
rs1484366381
|
0.00001
|
NM_032444.4(SLX4):c.3188G>A (p.Gly1063Asp)
|
rs750149671
|
0.00001
|
NM_032444.4(SLX4):c.3269C>T (p.Thr1090Met)
|
rs780143733
|
0.00001
|
NM_032444.4(SLX4):c.3307C>T (p.Arg1103Cys)
|
rs200708159
|
0.00001
|
NM_032444.4(SLX4):c.3308G>A (p.Arg1103His)
|
rs201618094
|
0.00001
|
NM_032444.4(SLX4):c.3367T>C (p.Ser1123Pro)
|
rs201582780
|
0.00001
|
NM_032444.4(SLX4):c.3370A>G (p.Ile1124Val)
|
rs766081510
|
0.00001
|
NM_032444.4(SLX4):c.3371T>C (p.Ile1124Thr)
|
rs2040567955
|
0.00001
|
NM_032444.4(SLX4):c.3410G>C (p.Arg1137Thr)
|
rs1391353238
|
0.00001
|
NM_032444.4(SLX4):c.3419A>C (p.Lys1140Thr)
|
rs1374316194
|
0.00001
|
NM_032444.4(SLX4):c.3470C>T (p.Ser1157Leu)
|
rs769688259
|
0.00001
|
NM_032444.4(SLX4):c.3566G>A (p.Cys1189Tyr)
|
rs766648339
|
0.00001
|
NM_032444.4(SLX4):c.3578C>T (p.Ser1193Phe)
|
rs368695839
|
0.00001
|
NM_032444.4(SLX4):c.3605A>G (p.Glu1202Gly)
|
rs1414947508
|
0.00001
|
NM_032444.4(SLX4):c.3631G>A (p.Glu1211Lys)
|
rs202032197
|
0.00001
|
NM_032444.4(SLX4):c.3650A>G (p.Glu1217Gly)
|
rs761680381
|
0.00001
|
NM_032444.4(SLX4):c.3673A>G (p.Asn1225Asp)
|
rs878855161
|
0.00001
|
NM_032444.4(SLX4):c.3676_3678dup (p.Arg1226dup)
|
rs1567169873
|
0.00001
|
NM_032444.4(SLX4):c.3683C>A (p.Ser1228Tyr)
|
rs755523528
|
0.00001
|
NM_032444.4(SLX4):c.3706T>C (p.Trp1236Arg)
|
rs760493361
|
0.00001
|
NM_032444.4(SLX4):c.3721C>T (p.Arg1241Cys)
|
rs771835799
|
0.00001
|
NM_032444.4(SLX4):c.3739G>A (p.Glu1247Lys)
|
rs978074181
|
0.00001
|
NM_032444.4(SLX4):c.3761C>T (p.Ser1254Leu)
|
rs750580998
|
0.00001
|
NM_032444.4(SLX4):c.37T>C (p.Tyr13His)
|
rs2040817612
|
0.00001
|
NM_032444.4(SLX4):c.3800G>A (p.Arg1267His)
|
rs775711964
|
0.00001
|
NM_032444.4(SLX4):c.3806G>C (p.Cys1269Ser)
|
rs779426291
|
0.00001
|
NM_032444.4(SLX4):c.3835A>G (p.Arg1279Gly)
|
rs1252550783
|
0.00001
|
NM_032444.4(SLX4):c.3894C>G (p.Asn1298Lys)
|
rs1260811996
|
0.00001
|
NM_032444.4(SLX4):c.3907G>A (p.Glu1303Lys)
|
rs759828401
|
0.00001
|
NM_032444.4(SLX4):c.3912C>T (p.Val1304=)
|
rs140254478
|
0.00001
|
NM_032444.4(SLX4):c.3926C>T (p.Ser1309Phe)
|
rs556682517
|
0.00001
|
NM_032444.4(SLX4):c.3931A>G (p.Ile1311Val)
|
rs1196234101
|
0.00001
|
NM_032444.4(SLX4):c.4019A>G (p.His1340Arg)
|
rs776760390
|
0.00001
|
NM_032444.4(SLX4):c.4030T>C (p.Ser1344Pro)
|
rs745595506
|
0.00001
|
NM_032444.4(SLX4):c.4055C>T (p.Pro1352Leu)
|
rs144720266
|
0.00001
|
NM_032444.4(SLX4):c.4066C>G (p.Pro1356Ala)
|
rs532756081
|
0.00001
|
NM_032444.4(SLX4):c.4078C>T (p.His1360Tyr)
|
rs1282208383
|
0.00001
|
NM_032444.4(SLX4):c.4079A>T (p.His1360Leu)
|
rs1060501793
|
0.00001
|
NM_032444.4(SLX4):c.4096C>T (p.Arg1366Cys)
|
rs368434737
|
0.00001
|
NM_032444.4(SLX4):c.4130C>T (p.Ser1377Leu)
|
rs770241338
|
0.00001
|
NM_032444.4(SLX4):c.4240C>G (p.Pro1414Ala)
|
rs2040548472
|
0.00001
|
NM_032444.4(SLX4):c.424G>C (p.Gly142Arg)
|
rs773117024
|
0.00001
|
NM_032444.4(SLX4):c.4334G>A (p.Arg1445Gln)
|
rs756660911
|
0.00001
|
NM_032444.4(SLX4):c.4339G>A (p.Gly1447Ser)
|
rs371090786
|
0.00001
|
NM_032444.4(SLX4):c.4347G>A (p.Leu1449=)
|
rs373300793
|
0.00001
|
NM_032444.4(SLX4):c.4397A>G (p.Asp1466Gly)
|
rs753668854
|
0.00001
|
NM_032444.4(SLX4):c.4415T>C (p.Leu1472Pro)
|
rs938457122
|
0.00001
|
NM_032444.4(SLX4):c.4483G>A (p.Ala1495Thr)
|
rs762565535
|
0.00001
|
NM_032444.4(SLX4):c.4496G>A (p.Gly1499Glu)
|
rs1231411840
|
0.00001
|
NM_032444.4(SLX4):c.4546G>A (p.Gly1516Arg)
|
rs775915651
|
0.00001
|
NM_032444.4(SLX4):c.4552G>A (p.Glu1518Lys)
|
rs760096901
|
0.00001
|
NM_032444.4(SLX4):c.4597G>A (p.Ala1533Thr)
|
rs200377191
|
0.00001
|
NM_032444.4(SLX4):c.4607C>T (p.Ala1536Val)
|
rs759939338
|
0.00001
|
NM_032444.4(SLX4):c.460C>T (p.Arg154Trp)
|
rs141639275
|
0.00001
|
NM_032444.4(SLX4):c.4618G>A (p.Glu1540Lys)
|
rs769950582
|
0.00001
|
NM_032444.4(SLX4):c.4684C>T (p.Pro1562Ser)
|
rs893507870
|
0.00001
|
NM_032444.4(SLX4):c.4691C>G (p.Pro1564Arg)
|
rs1478218856
|
0.00001
|
NM_032444.4(SLX4):c.4700C>T (p.Ser1567Phe)
|
rs755754734
|
0.00001
|
NM_032444.4(SLX4):c.4714C>G (p.Pro1572Ala)
|
rs753904877
|
0.00001
|
NM_032444.4(SLX4):c.4739+6C>T
|
rs770758859
|
0.00001
|
NM_032444.4(SLX4):c.4768C>G (p.Gln1590Glu)
|
rs148228302
|
0.00001
|
NM_032444.4(SLX4):c.4773G>A (p.Met1591Ile)
|
rs757589951
|
0.00001
|
NM_032444.4(SLX4):c.4780A>C (p.Lys1594Gln)
|
rs1567166631
|
0.00001
|
NM_032444.4(SLX4):c.4822T>G (p.Ser1608Ala)
|
rs1480904013
|
0.00001
|
NM_032444.4(SLX4):c.4845G>C (p.Gln1615His)
|
rs988625732
|
0.00001
|
NM_032444.4(SLX4):c.4880A>G (p.Gln1627Arg)
|
rs1346015743
|
0.00001
|
NM_032444.4(SLX4):c.4882A>T (p.Thr1628Ser)
|
rs201688321
|
0.00001
|
NM_032444.4(SLX4):c.4888G>A (p.Ala1630Thr)
|
rs776578234
|
0.00001
|
NM_032444.4(SLX4):c.4892C>T (p.Ser1631Phe)
|
rs763539738
|
0.00001
|
NM_032444.4(SLX4):c.4898C>T (p.Thr1633Ile)
|
rs1173889397
|
0.00001
|
NM_032444.4(SLX4):c.4927G>T (p.Ala1643Ser)
|
rs145557355
|
0.00001
|
NM_032444.4(SLX4):c.4939G>A (p.Ala1647Thr)
|
rs2040464512
|
0.00001
|
NM_032444.4(SLX4):c.4972G>A (p.Gly1658Arg)
|
rs200507644
|
0.00001
|
NM_032444.4(SLX4):c.4996C>T (p.Arg1666Ter)
|
rs1291935778
|
0.00001
|
NM_032444.4(SLX4):c.5042C>T (p.Ser1681Leu)
|
rs530123827
|
0.00001
|
NM_032444.4(SLX4):c.5056G>A (p.Ala1686Thr)
|
rs751219957
|
0.00001
|
NM_032444.4(SLX4):c.5081C>T (p.Ala1694Val)
|
rs761226343
|
0.00001
|
NM_032444.4(SLX4):c.5144G>A (p.Ser1715Asn)
|
rs754498907
|
0.00001
|
NM_032444.4(SLX4):c.5186A>G (p.Glu1729Gly)
|
rs1203040904
|
0.00001
|
NM_032444.4(SLX4):c.5189C>G (p.Ser1730Cys)
|
rs376960842
|
0.00001
|
NM_032444.4(SLX4):c.5223T>G (p.Ser1741Arg)
|
rs200262630
|
0.00001
|
NM_032444.4(SLX4):c.5278A>C (p.Ile1760Leu)
|
rs377648201
|
0.00001
|
NM_032444.4(SLX4):c.5304G>C (p.Gln1768His)
|
rs1555449297
|
0.00001
|
NM_032444.4(SLX4):c.5318A>G (p.Tyr1773Cys)
|
rs769567874
|
0.00001
|
NM_032444.4(SLX4):c.533G>T (p.Arg178Ile)
|
rs1216948562
|
0.00001
|
NM_032444.4(SLX4):c.5354T>C (p.Leu1785Pro)
|
rs562491450
|
0.00001
|
NM_032444.4(SLX4):c.5365G>A (p.Gly1789Ser)
|
rs374876624
|
0.00001
|
NM_032444.4(SLX4):c.5384G>A (p.Arg1795His)
|
rs926700658
|
0.00001
|
NM_032444.4(SLX4):c.5386A>G (p.Arg1796Gly)
|
rs770529698
|
0.00001
|
NM_032444.4(SLX4):c.5410C>T (p.His1804Tyr)
|
rs772332386
|
0.00001
|
NM_032444.4(SLX4):c.5413T>C (p.Cys1805Arg)
|
rs746191123
|
0.00001
|
NM_032444.4(SLX4):c.5467C>T (p.Arg1823Trp)
|
rs771230395
|
0.00001
|
NM_032444.4(SLX4):c.5497C>T (p.Arg1833Trp)
|
rs375100050
|
0.00001
|
NM_032444.4(SLX4):c.5498G>A (p.Arg1833Gln)
|
rs751456750
|
0.00001
|
NM_032444.4(SLX4):c.595A>G (p.Ser199Gly)
|
rs770098753
|
0.00001
|
NM_032444.4(SLX4):c.622T>A (p.Leu208Met)
|
rs1453789700
|
0.00001
|
NM_032444.4(SLX4):c.635G>A (p.Arg212Gln)
|
rs575953567
|
0.00001
|
NM_032444.4(SLX4):c.702G>C (p.Glu234Asp)
|
rs201161027
|
0.00001
|
NM_032444.4(SLX4):c.703G>C (p.Ala235Pro)
|
rs754917250
|
0.00001
|
NM_032444.4(SLX4):c.755G>A (p.Gly252Glu)
|
rs1060501795
|
0.00001
|
NM_032444.4(SLX4):c.799G>A (p.Ala267Thr)
|
rs755289589
|
0.00001
|
NM_032444.4(SLX4):c.806C>T (p.Ala269Val)
|
rs750475726
|
0.00001
|
NM_032444.4(SLX4):c.842C>G (p.Ala281Gly)
|
rs1263321133
|
0.00001
|
NM_032444.4(SLX4):c.860G>T (p.Ser287Ile)
|
rs1264580208
|
0.00001
|
NM_032444.4(SLX4):c.862C>A (p.Leu288Met)
|
rs777370394
|
0.00001
|
NM_032444.4(SLX4):c.874G>A (p.Gly292Ser)
|
rs780402573
|
0.00001
|
NM_032444.4(SLX4):c.890A>G (p.Gln297Arg)
|
rs778643553
|
0.00001
|
NM_032444.4(SLX4):c.941A>G (p.His314Arg)
|
rs1274906202
|
0.00001
|
NM_032444.4(SLX4):c.973A>T (p.Thr325Ser)
|
rs181942292
|
0.00001
|
NM_032444.4(SLX4):c.983C>T (p.Pro328Leu)
|
rs760336082
|
0.00001
|
NM_032638.5(GATA2):c.971A>G (p.Lys324Arg)
|
rs1480450110
|
0.00001
|
NM_033022.4(RPS24):c.23G>A (p.Arg8His)
|
rs1291294524
|
0.00001
|
NM_033022.4(RPS24):c.279+2dup
|
rs1459887559
|
0.00001
|
NM_033022.4(RPS24):c.3+7C>T
|
rs759947869
|
0.00001
|
NM_033022.4(RPS24):c.390+3dup
|
rs780893174
|
0.00001
|
NM_033022.4(RPS24):c.7G>A (p.Asp3Asn)
|
rs772167568
|
0.00001
|
NM_033022.4(RPS24):c.91G>A (p.Gly31Arg)
|
rs757084547
|
0.00001
|
NM_058216.3(RAD51C):c.-2C>T
|
rs876658796
|
0.00001
|
NM_058216.3(RAD51C):c.1016T>C (p.Phe339Ser)
|
rs1060502602
|
0.00001
|
NM_058216.3(RAD51C):c.1031A>G (p.Gln344Arg)
|
rs2049559372
|
0.00001
|
NM_058216.3(RAD51C):c.1043A>T (p.Asp348Val)
|
rs111614311
|
0.00001
|
NM_058216.3(RAD51C):c.1046C>T (p.Thr349Ile)
|
rs776823687
|
0.00001
|
NM_058216.3(RAD51C):c.1051G>A (p.Val351Ile)
|
rs1160208500
|
0.00001
|
NM_058216.3(RAD51C):c.1055C>A (p.Thr352Asn)
|
rs786203771
|
0.00001
|
NM_058216.3(RAD51C):c.1061C>T (p.Ala354Val)
|
rs761770500
|
0.00001
|
NM_058216.3(RAD51C):c.1064G>A (p.Cys355Tyr)
|
rs1555605562
|
0.00001
|
NM_058216.3(RAD51C):c.1096C>T (p.Arg366Trp)
|
rs587782449
|
0.00001
|
NM_058216.3(RAD51C):c.1097G>A (p.Arg366Gln)
|
rs577852020
|
0.00001
|
NM_058216.3(RAD51C):c.1109G>A (p.Arg370Gln)
|
rs373170458
|
0.00001
|
NM_058216.3(RAD51C):c.121G>A (p.Val41Met)
|
rs879254131
|
0.00001
|
NM_058216.3(RAD51C):c.128C>T (p.Pro43Leu)
|
rs766958594
|
0.00001
|
NM_058216.3(RAD51C):c.145+5C>A
|
rs876660577
|
0.00001
|
NM_058216.3(RAD51C):c.145+5C>T
|
rs876660577
|
0.00001
|
NM_058216.3(RAD51C):c.146-7C>G
|
rs1428658524
|
0.00001
|
NM_058216.3(RAD51C):c.154A>C (p.Ile52Leu)
|
rs730881927
|
0.00001
|
NM_058216.3(RAD51C):c.161A>C (p.Lys54Thr)
|
rs587782296
|
0.00001
|
NM_058216.3(RAD51C):c.164C>T (p.Ala55Val)
|
rs730881928
|
0.00001
|
NM_058216.3(RAD51C):c.185A>G (p.Gln62Arg)
|
rs1308150896
|
0.00001
|
NM_058216.3(RAD51C):c.194G>C (p.Arg65Thr)
|
rs2047943468
|
0.00001
|
NM_058216.3(RAD51C):c.19C>A (p.Arg7Ser)
|
rs759759863
|
0.00001
|
NM_058216.3(RAD51C):c.1A>G (p.Met1Val)
|
rs921435798
|
0.00001
|
NM_058216.3(RAD51C):c.20G>A (p.Arg7His)
|
rs892567748
|
0.00001
|
NM_058216.3(RAD51C):c.214A>G (p.Lys72Glu)
|
rs775224480
|
0.00001
|
NM_058216.3(RAD51C):c.21C>G (p.Arg7=)
|
rs1443654986
|
0.00001
|
NM_058216.3(RAD51C):c.233C>T (p.Thr78Ile)
|
rs112832782
|
0.00001
|
NM_058216.3(RAD51C):c.234A>G (p.Thr78=)
|
rs730881929
|
0.00001
|
NM_058216.3(RAD51C):c.252G>T (p.Lys84Asn)
|
rs786202890
|
0.00001
|
NM_058216.3(RAD51C):c.253T>C (p.Cys85Arg)
|
rs1060502595
|
0.00001
|
NM_058216.3(RAD51C):c.28A>T (p.Met10Leu)
|
rs1452865935
|
0.00001
|
NM_058216.3(RAD51C):c.29T>G (p.Met10Arg)
|
rs730881936
|
0.00001
|
NM_058216.3(RAD51C):c.307T>A (p.Phe103Ile)
|
rs1114167446
|
0.00001
|
NM_058216.3(RAD51C):c.340G>A (p.Gly114Arg)
|
rs786203690
|
0.00001
|
NM_058216.3(RAD51C):c.35G>A (p.Arg12Gln)
|
rs764394130
|
0.00001
|
NM_058216.3(RAD51C):c.35G>C (p.Arg12Pro)
|
rs764394130
|
0.00001
|
NM_058216.3(RAD51C):c.361A>G (p.Thr121Ala)
|
rs969395239
|
0.00001
|
NM_058216.3(RAD51C):c.370T>A (p.Cys124Ser)
|
rs1273995533
|
0.00001
|
NM_058216.3(RAD51C):c.379C>A (p.Pro127Thr)
|
rs587782222
|
0.00001
|
NM_058216.3(RAD51C):c.385G>A (p.Val129Ile)
|
rs1555593879
|
0.00001
|
NM_058216.3(RAD51C):c.3G>A (p.Met1Ile)
|
rs769053886
|
0.00001
|
NM_058216.3(RAD51C):c.404+7T>C
|
rs1350153132
|
0.00001
|
NM_058216.3(RAD51C):c.406A>T (p.Met136Leu)
|
rs587780254
|
0.00001
|
NM_058216.3(RAD51C):c.408G>A (p.Met136Ile)
|
rs587780836
|
0.00001
|
NM_058216.3(RAD51C):c.418G>C (p.Val140Leu)
|
rs730881938
|
0.00001
|
NM_058216.3(RAD51C):c.434C>T (p.Pro145Leu)
|
rs1291341143
|
0.00001
|
NM_058216.3(RAD51C):c.435A>G (p.Pro145=)
|
rs555235745
|
0.00001
|
NM_058216.3(RAD51C):c.458G>A (p.Gly153Asp)
|
rs765730332
|
0.00001
|
NM_058216.3(RAD51C):c.460G>A (p.Glu154Lys)
|
rs1194019460
|
0.00001
|
NM_058216.3(RAD51C):c.46A>G (p.Ser16Gly)
|
rs762060755
|
0.00001
|
NM_058216.3(RAD51C):c.487A>G (p.Ser163Gly)
|
rs776904180
|
0.00001
|
NM_058216.3(RAD51C):c.497T>C (p.Val166Ala)
|
rs765300465
|
0.00001
|
NM_058216.3(RAD51C):c.523G>A (p.Ala175Thr)
|
rs587780838
|
0.00001
|
NM_058216.3(RAD51C):c.536A>G (p.His179Arg)
|
rs1064794989
|
0.00001
|
NM_058216.3(RAD51C):c.53C>T (p.Pro18Leu)
|
rs754498936
|
0.00001
|
NM_058216.3(RAD51C):c.547A>G (p.Ile183Val)
|
rs753475114
|
0.00001
|
NM_058216.3(RAD51C):c.548T>C (p.Ile183Thr)
|
rs756727559
|
0.00001
|
NM_058216.3(RAD51C):c.550G>A (p.Ala184Thr)
|
rs1060502604
|
0.00001
|
NM_058216.3(RAD51C):c.556A>C (p.Lys186Gln)
|
rs1363104728
|
0.00001
|
NM_058216.3(RAD51C):c.563A>T (p.Lys188Met)
|
rs587781680
|
0.00001
|
NM_058216.3(RAD51C):c.571+4A>G
|
rs587780257
|
0.00001
|
NM_058216.3(RAD51C):c.578G>A (p.Arg193Gln)
|
rs587782332
|
0.00001
|
NM_058216.3(RAD51C):c.601C>G (p.Leu201Val)
|
rs531838785
|
0.00001
|
NM_058216.3(RAD51C):c.607A>G (p.Asn203Asp)
|
rs538884532
|
0.00001
|
NM_058216.3(RAD51C):c.620A>G (p.His207Arg)
|
rs587781921
|
0.00001
|
NM_058216.3(RAD51C):c.621T>A (p.His207Gln)
|
rs786201848
|
0.00001
|
NM_058216.3(RAD51C):c.622A>G (p.Ile208Val)
|
rs771078849
|
0.00001
|
NM_058216.3(RAD51C):c.62C>T (p.Pro21Leu)
|
rs587782511
|
0.00001
|
NM_058216.3(RAD51C):c.634C>T (p.Arg212Cys)
|
rs137947462
|
0.00001
|
NM_058216.3(RAD51C):c.641G>A (p.Arg214His)
|
rs760911964
|
0.00001
|
NM_058216.3(RAD51C):c.644A>G (p.Asp215Gly)
|
rs1483938000
|
0.00001
|
NM_058216.3(RAD51C):c.653A>G (p.Glu218Gly)
|
rs1321358603
|
0.00001
|
NM_058216.3(RAD51C):c.656T>C (p.Leu219Ser)
|
rs201529791
|
0.00001
|
NM_058216.3(RAD51C):c.680C>T (p.Pro227Leu)
|
rs1374461662
|
0.00001
|
NM_058216.3(RAD51C):c.687C>G (p.Phe229Leu)
|
rs780177888
|
0.00001
|
NM_058216.3(RAD51C):c.710G>A (p.Arg237Gln)
|
rs370393672
|
0.00001
|
NM_058216.3(RAD51C):c.722T>C (p.Val241Ala)
|
rs1555599127
|
0.00001
|
NM_058216.3(RAD51C):c.730A>G (p.Ile244Val)
|
rs199886026
|
0.00001
|
NM_058216.3(RAD51C):c.73G>A (p.Val25Met)
|
rs757116652
|
0.00001
|
NM_058216.3(RAD51C):c.740C>T (p.Pro247Leu)
|
rs2048495457
|
0.00001
|
NM_058216.3(RAD51C):c.748C>T (p.His250Tyr)
|
rs531540031
|
0.00001
|
NM_058216.3(RAD51C):c.758A>G (p.Asp253Gly)
|
rs1060502592
|
0.00001
|
NM_058216.3(RAD51C):c.76A>G (p.Lys26Glu)
|
rs1233718307
|
0.00001
|
NM_058216.3(RAD51C):c.772C>T (p.Arg258Cys)
|
rs587782474
|
0.00001
|
NM_058216.3(RAD51C):c.779G>A (p.Arg260Gln)
|
rs730881926
|
0.00001
|
NM_058216.3(RAD51C):c.869T>C (p.Ile290Thr)
|
rs749645694
|
0.00001
|
NM_058216.3(RAD51C):c.892G>C (p.Val298Leu)
|
rs1555602145
|
0.00001
|
NM_058216.3(RAD51C):c.899C>T (p.Ala300Val)
|
rs1444333199
|
0.00001
|
NM_058216.3(RAD51C):c.92G>A (p.Gly31Glu)
|
rs587781441
|
0.00001
|
NM_058216.3(RAD51C):c.934C>T (p.Arg312Trp)
|
rs730881932
|
0.00001
|
NM_058216.3(RAD51C):c.935G>A (p.Arg312Gln)
|
rs779834376
|
0.00001
|
NM_058216.3(RAD51C):c.952G>T (p.Asp318Tyr)
|
rs876659875
|
0.00001
|
NM_058216.3(RAD51C):c.965+4A>G
|
rs1555603065
|
0.00001
|
NM_058216.3(RAD51C):c.966-1G>C
|
rs876658272
|
0.00001
|
NM_058216.3(RAD51C):c.966-8T>G
|
rs1181139153
|
0.00001
|
NM_058216.3(RAD51C):c.982A>G (p.Lys328Glu)
|
rs1555605064
|
0.00001
|
NM_080669.6(SLC46A1):c.*1220A>G
|
rs886052748
|
0.00001
|
NM_080669.6(SLC46A1):c.*129C>T
|
rs886052752
|
0.00001
|
NM_080669.6(SLC46A1):c.*1521G>A
|
rs988138947
|
0.00001
|
NM_080669.6(SLC46A1):c.*2027C>A
|
rs149579635
|
0.00001
|
NM_080669.6(SLC46A1):c.*2808G>C
|
rs886052744
|
0.00001
|
NM_080669.6(SLC46A1):c.*3789C>A
|
rs886052740
|
0.00001
|
NM_080669.6(SLC46A1):c.*4158G>A
|
rs1216449496
|
0.00001
|
NM_080669.6(SLC46A1):c.*4320A>G
|
rs528235797
|
0.00001
|
NM_080669.6(SLC46A1):c.1367C>T (p.Pro456Leu)
|
rs886052754
|
0.00001
|
NM_080669.6(SLC46A1):c.277G>A (p.Gly93Ser)
|
rs374179004
|
0.00001
|
NM_080669.6(SLC46A1):c.462C>T (p.Leu154=)
|
rs782480845
|
0.00001
|
NM_138477.4(CDAN1):c.*58G>A
|
rs567117839
|
0.00001
|
NM_138477.4(CDAN1):c.*753C>T
|
rs1011188304
|
0.00001
|
NM_138477.4(CDAN1):c.-4C>G
|
rs776319103
|
0.00001
|
NM_138477.4(CDAN1):c.1203C>T (p.Phe401=)
|
rs2061657466
|
0.00001
|
NM_138477.4(CDAN1):c.1242G>C (p.Glu414Asp)
|
rs1470472984
|
0.00001
|
NM_138477.4(CDAN1):c.1273C>G (p.Pro425Ala)
|
rs191247450
|
0.00001
|
NM_138477.4(CDAN1):c.1583C>T (p.Pro528Leu)
|
rs755117251
|
0.00001
|
NM_138477.4(CDAN1):c.2073C>T (p.Leu691=)
|
rs199776068
|
0.00001
|
NM_138477.4(CDAN1):c.2174G>A (p.Arg725Gln)
|
rs962870388
|
0.00001
|
NM_138477.4(CDAN1):c.2262+10G>A
|
rs1338899431
|
0.00001
|
NM_138477.4(CDAN1):c.2539C>T (p.Gln847Ter)
|
rs144546360
|
0.00001
|
NM_138477.4(CDAN1):c.2576C>T (p.Pro859Leu)
|
rs370476233
|
0.00001
|
NM_138477.4(CDAN1):c.2587C>T (p.Arg863Cys)
|
rs768892869
|
0.00001
|
NM_138477.4(CDAN1):c.2725G>A (p.Gly909Arg)
|
rs745824109
|
0.00001
|
NM_138477.4(CDAN1):c.2872C>T (p.Leu958=)
|
rs764432820
|
0.00001
|
NM_138477.4(CDAN1):c.3268G>C (p.Val1090Leu)
|
rs559053820
|
0.00001
|
NM_138477.4(CDAN1):c.3559-11A>G
|
rs375128684
|
0.00001
|
NM_138477.4(CDAN1):c.3648G>A (p.Val1216=)
|
rs138934554
|
0.00001
|
NM_138477.4(CDAN1):c.392G>A (p.Arg131His)
|
rs1165157914
|
0.00001
|
NM_138477.4(CDAN1):c.569+9C>G
|
rs778283367
|
0.00001
|
NM_182916.3(TRNT1):c.1025C>T (p.Pro342Leu)
|
rs1307103374
|
0.00001
|
NM_182916.3(TRNT1):c.1054G>C (p.Asp352His)
|
rs1170870898
|
0.00001
|
NM_182916.3(TRNT1):c.1073C>G (p.Ala358Gly)
|
rs746690923
|
0.00001
|
NM_182916.3(TRNT1):c.1079C>T (p.Thr360Ile)
|
rs776480350
|
0.00001
|
NM_182916.3(TRNT1):c.1112A>G (p.Glu371Gly)
|
rs1179943378
|
0.00001
|
NM_182916.3(TRNT1):c.1130A>T (p.Glu377Val)
|
rs1050894893
|
0.00001
|
NM_182916.3(TRNT1):c.1144T>C (p.Ser382Pro)
|
rs866447898
|
0.00001
|
NM_182916.3(TRNT1):c.1235G>A (p.Arg412Gln)
|
rs761145683
|
0.00001
|
NM_182916.3(TRNT1):c.1289A>T (p.Tyr430Phe)
|
rs774429750
|
0.00001
|
NM_182916.3(TRNT1):c.1305A>C (p.Ter435Tyr)
|
rs1312301408
|
0.00001
|
NM_182916.3(TRNT1):c.145A>G (p.Thr49Ala)
|
rs1704830773
|
0.00001
|
NM_182916.3(TRNT1):c.170A>G (p.His57Arg)
|
rs1488255780
|
0.00001
|
NM_182916.3(TRNT1):c.172G>A (p.Glu58Lys)
|
rs768028459
|
0.00001
|
NM_182916.3(TRNT1):c.1A>G (p.Met1Val)
|
rs779568831
|
0.00001
|
NM_182916.3(TRNT1):c.251C>G (p.Ala84Gly)
|
rs976462533
|
0.00001
|
NM_182916.3(TRNT1):c.262C>G (p.Gln88Glu)
|
rs1439134079
|
0.00001
|
NM_182916.3(TRNT1):c.284C>T (p.Ser95Leu)
|
rs1287896952
|
0.00001
|
NM_182916.3(TRNT1):c.295C>T (p.Arg99Trp)
|
rs759826831
|
0.00001
|
NM_182916.3(TRNT1):c.298A>G (p.Met100Val)
|
rs996280968
|
0.00001
|
NM_182916.3(TRNT1):c.31C>G (p.Pro11Ala)
|
rs769556416
|
0.00001
|
NM_182916.3(TRNT1):c.320A>G (p.Lys107Arg)
|
rs764696586
|
0.00001
|
NM_182916.3(TRNT1):c.322C>G (p.His108Asp)
|
rs1159782126
|
0.00001
|
NM_182916.3(TRNT1):c.376C>T (p.Arg126Trp)
|
rs780385153
|
0.00001
|
NM_182916.3(TRNT1):c.38T>C (p.Leu13Pro)
|
rs762748487
|
0.00001
|
NM_182916.3(TRNT1):c.449G>A (p.Arg150His)
|
rs1012537748
|
0.00001
|
NM_182916.3(TRNT1):c.493A>G (p.Thr165Ala)
|
rs754369247
|
0.00001
|
NM_182916.3(TRNT1):c.505T>C (p.Tyr169His)
|
rs1705867660
|
0.00001
|
NM_182916.3(TRNT1):c.557A>T (p.His186Leu)
|
rs1433500811
|
0.00001
|
NM_182916.3(TRNT1):c.638G>C (p.Gly213Ala)
|
rs745817126
|
0.00001
|
NM_182916.3(TRNT1):c.716G>C (p.Trp239Ser)
|
rs753464075
|
0.00001
|
NM_182916.3(TRNT1):c.748C>G (p.His250Asp)
|
rs1453297459
|
0.00001
|
NM_182916.3(TRNT1):c.74A>C (p.Gln25Pro)
|
rs764391872
|
0.00001
|
NM_182916.3(TRNT1):c.763A>G (p.Ile255Val)
|
rs776889080
|
0.00001
|
NM_182916.3(TRNT1):c.781C>A (p.Leu261Ile)
|
rs116700675
|
0.00001
|
NM_182916.3(TRNT1):c.808C>T (p.Pro270Ser)
|
rs776704386
|
0.00001
|
NM_182916.3(TRNT1):c.818C>G (p.Ala273Gly)
|
rs1489444334
|
0.00001
|
NM_182916.3(TRNT1):c.833T>G (p.Phe278Cys)
|
rs1424196039
|
0.00001
|
NM_182916.3(TRNT1):c.886T>G (p.Leu296Val)
|
rs374592904
|
0.00001
|
NM_182916.3(TRNT1):c.946G>A (p.Ala316Thr)
|
rs753967295
|
0.00001
|
NM_198253.3(TERT):c.*339T>C
|
rs920370048
|
0.00001
|
NM_198253.3(TERT):c.189G>A (p.Arg63=)
|
rs1554043134
|
0.00001
|
NM_198253.3(TERT):c.1939A>C (p.Arg647=)
|
rs144821759
|
0.00001
|
NM_198253.3(TERT):c.1954G>A (p.Glu652Lys)
|
rs1228165704
|
0.00001
|
NM_198253.3(TERT):c.2321G>A (p.Arg774Gln)
|
rs1579564912
|
0.00001
|
NM_198253.3(TERT):c.2419G>A (p.Asp807Asn)
|
rs1169312254
|
0.00001
|
NM_198253.3(TERT):c.2655-47_2659dup
|
rs1561193114
|
0.00001
|
NM_198253.3(TERT):c.2781A>G (p.Leu927=)
|
rs370292237
|
0.00001
|
NM_198253.3(TERT):c.3101G>A (p.Arg1034His)
|
rs62331332
|
0.00001
|
NM_198253.3(TERT):c.508G>A (p.Val170Met)
|
rs387907248
|
0.00001
|
NM_198253.3(TERT):c.880C>T (p.His294Tyr)
|
rs886059906
|
0.00001
|
NM_198253.3(TERT):c.895G>A (p.Val299Met)
|
rs756624928
|
0.00001
|
NM_206965.2(FTCD):c.1273C>T (p.Leu425Phe)
|
rs755340941
|
0.00001
|
NM_206965.2(FTCD):c.1549C>T (p.Arg517Cys)
|
rs1188352065
|
0.00001
|
NM_206965.2(FTCD):c.1589C>T (p.Ala530Val)
|
rs759031386
|
0.00001
|
NM_206965.2(FTCD):c.200G>A (p.Arg67Gln)
|
rs765154985
|
0.00001
|
NM_206965.2(FTCD):c.251G>A (p.Arg84His)
|
rs748347001
|
0.00001
|
NM_206965.2(FTCD):c.274C>T (p.Pro92Ser)
|
rs749149640
|
0.00001
|
NM_206965.2(FTCD):c.521C>T (p.Thr174Met)
|
rs757064013
|
0.00001
|
NM_206965.2(FTCD):c.774+4A>G
|
rs759550771
|
0.00001
|
NM_206965.2(FTCD):c.842C>T (p.Ala281Val)
|
rs752941882
|
0.00001
|
NR_001566.3(TERC):n.35C>T
|
rs199422260
|
0.00001
|
NR_001566.3(TERC):n.36C>T
|
rs1248582778
|
0.00001
|
G6PD NARA
|
rs587776730
|
|
NC_000001.10:g.(?_236959004)_(237060944_?)dup
|
|
|
NC_000001.10:g.(?_237060286)_(237060944_?)dup
|
|
|
NC_000001.10:g.(?_45966005)_(45977106_?)dup
|
|
|
NC_000001.10:g.(?_91726847)_(93307422_?)dup
|
|
|
NC_000001.10:g.(?_93306098)_(93307422_?)dup
|
|
|
NC_000001.11:g.(?_45507336)_(45509235_?)dup
|
|
|
NC_000002.11:g.(?_3391395)_(3624240_?)dup
|
|
|
NC_000002.11:g.(?_3391395)_(3691708_?)dup
|
|
|
NC_000002.11:g.(?_3622941)_(3628472_?)dup
|
|
|
NC_000002.11:g.(?_58386900)_(58390229_?)dup
|
|
|
NC_000002.11:g.(?_58386900)_(58393029_?)dup
|
|
|
NC_000002.11:g.(?_58386900)_(58459257_?)dup
|
|
|
NC_000002.11:g.(?_58386900)_(58468448_?)dup
|
|
|
NC_000002.12:g.(?_58159755)_(58241323_?)dup
|
|
|
NC_000003.11:g.(?_10084233)_(10085558_?)dup
|
|
|
NC_000003.11:g.(?_10127486)_(10140634_?)dup
|
|
|
NC_000003.11:g.(?_10127486)_(10140644_?)dup
|
|
|
NC_000003.11:g.(?_10138000)_(10140634_?)del
|
|
|
NC_000003.11:g.(?_148847511)_(148906009_?)dup
|
|
|
NC_000003.11:g.(?_197677839)_(197677849_?)dup
|
|
|
NC_000003.11:g.(?_197677839)_(197678192_?)dup
|
|
|
NC_000003.11:g.(?_197677839)_(197681038_?)dup
|
|
|
NC_000003.11:g.(?_3170725)_(3189838_?)dup
|
|
|
NC_000003.12:g.(?_10028648)_(10043874_?)dup
|
|
|
NC_000003.12:g.(?_10090282)_(10098950_?)dup
|
|
|
NC_000003.12:g.(?_149173694)_(149182153_?)del
|
|
|
NC_000003.12:g.(?_197950958)_(197955783_?)dup
|
|
|
NC_000003.12:g.(?_197950968)_(197955773_?)dup
|
|
|
NC_000003.12:g.(?_3129021)_(3148174_?)dup
|
|
|
NC_000005.9:g.(?_7870908)_(7900171_?)dup
|
|
|
NC_000005.9:g.(?_7895827)_(7900171_?)dup
|
|
|
NC_000006.11:g.(?_34385283)_(34386211_?)dup
|
|
|
NC_000006.11:g.(?_34385283)_(34392998_?)dup
|
|
|
NC_000006.11:g.(?_35420323)_(35424150_?)dup
|
|
|
NC_000006.11:g.(?_35420323)_(35434122_?)dup
|
|
|
NC_000006.11:g.(?_35428309)_(35430711_?)del
|
|
|
NC_000006.11:g.(?_35428309)_(35434122_?)dup
|
|
|
NC_000006.11:g.(?_35430556)_(35434122_?)del
|
|
|
NC_000006.11:g.(?_70386050)_(70490466_?)dup
|
|
|
NC_000006.11:g.(?_70490366)_(70506773_?)dup
|
|
|
NC_000009.11:g.(?_35072710)_(35079521_?)dup
|
|
|
NC_000009.11:g.(?_97863983)_(98270649_?)dup
|
|
|
NC_000009.11:g.(?_97863989)_(97879692_?)dup
|
|
|
NC_000009.11:g.(?_97863989)_(97934439_?)dup
|
|
|
NC_000009.11:g.(?_97863989)_(98079991_?)dup
|
|
|
NC_000009.11:g.(?_97912185)_(97912389_?)del
|
|
|
NC_000009.11:g.(?_98002921)_(98079991_?)dup
|
|
|
NC_000009.11:g.(?_98079798)_(98279100_?)del
|
|
|
NC_000009.12:g.(?_95107056)_(95107279_?)del
|
|
|
NC_000009.12:g.95314147_95322646del
|
|
|
NC_000010.10:g.(?_16866974)_(16867101_?)del
|
|
|
NC_000010.10:g.(?_16866974)_(18828653_?)dup
|
|
|
NC_000010.10:g.(?_79795104)_(79799970_?)dup
|
|
|
NC_000011.10:g.5227113G>C
|
rs397515291
|
|
NC_000011.9:g.(?_22644079)_(22647387_?)dup
|
|
|
NC_000011.9:g.(?_22646226)_(22647362_?)dup
|
|
|
NC_000011.9:g.(?_22646232)_(22647356_?)dup
|
|
|
NC_000012.11:g.(?_56435951)_(56437938_?)dup
|
|
|
NC_000013.11:g.32315487G>T
|
rs1036870835
|
|
NC_000014.8:g.(?_45605225)_(45609922_?)dup
|
|
|
NC_000014.8:g.(?_45605235)_(45669211_?)dup
|
|
|
NC_000014.8:g.(?_45618020)_(45669211_?)dup
|
|
|
NC_000014.8:g.(?_45618030)_(45618208_?)del
|
|
|
NC_000014.8:g.(?_45618030)_(45633778_?)del
|
|
|
NC_000014.8:g.(?_45630372)_(45633544_?)del
|
|
|
NC_000014.8:g.(?_45654410)_(45657100_?)del
|
|
|
NC_000014.9:g.(?_45164349)_(45164575_?)del
|
|
|
NC_000015.10:g.(?_89290203)_(89291724_?)del
|
|
|
NC_000015.9:g.(?_89790879)_(89825086_?)dup
|
|
|
NC_000015.9:g.(?_89790879)_(89859690_?)dup
|
|
|
NC_000015.9:g.(?_89801915)_(89828469_?)del
|
|
|
NC_000015.9:g.(?_89811610)_(89817555_?)del
|
|
|
NC_000015.9:g.(?_89828307)_(89828469_?)del
|
|
|
NC_000016.10:g.(89738709_89738881)_(89752223_89758576)del
|
|
|
NC_000016.10:g.(89739290_89739477)_(89811072_89814519)del
|
|
|
NC_000016.10:g.(89740100_89740803)_(89816657_?)del
|
|
|
NC_000016.10:g.(89742939_89744958)_(89745072_89746583)del
|
|
|
NC_000016.10:g.(89746891_89748658)_(89770025_89770165)del
|
|
|
NC_000016.10:g.(89746891_89748658)_(89770635_89771677)del
|
|
|
NC_000016.10:g.(89746891_89748658)_(89771815_89773270)del
|
|
|
NC_000016.10:g.(89748768_89749729)_(89765067_89767140)del
|
|
|
NC_000016.10:g.(89749903_89752137)_(89758706_89761948)del
|
|
|
NC_000016.10:g.(89752223_89758576)_(89765067_89767140)del
|
|
|
NC_000016.10:g.(89752223_89758576)_(89775816_89778800)del
|
|
|
NC_000016.10:g.(89752223_89758576)_(89783103_89784853)del
|
|
|
NC_000016.10:g.(89758706_89761948)_(89771815_89773270)del
|
|
|
NC_000016.10:g.(89758706_89761948)_(89784965_89791402)del
|
|
|
NC_000016.10:g.(89758706_89761948)_(89805393_89808293)del
|
|
|
NC_000016.10:g.(89767238_89769836)_(89811072_89814519)del
|
|
|
NC_000016.10:g.(89770025_89770165)_(89779958_89782858)del
|
|
|
NC_000016.10:g.(89770025_89770165)_(89792069_89792470)del
|
|
|
NC_000016.10:g.(89770635_89771677)_(89771815_89773270)del
|
|
|
NC_000016.10:g.(89771815_89773270)_(89778851_89778942)del
|
|
|
NC_000016.10:g.(89771815_89773270)_(89816657_?)del
|
|
|
NC_000016.10:g.(89773385_89775741)_(89799639_89803258)del
|
|
|
NC_000016.10:g.(89775816_89778800)_(89778851_89778942)del
|
|
|
NC_000016.10:g.(89775816_89778800)_(89808368_89810706)del
|
|
|
NC_000016.10:g.(89778851_89778942)_(89779004_89779868)del
|
|
|
NC_000016.10:g.(89779004_89779868)_(89779958_89782858)del
|
|
|
NC_000016.10:g.(89779004_89779868)_(89783103_89784853)del
|
|
|
NC_000016.10:g.(89779004_89779868)_(89799639_89803258)del
|
|
|
NC_000016.10:g.(89779958_89782858)_(89805393_89808293)del
|
|
|
NC_000016.10:g.(89784965_89791402)_(89799639_89803258)del
|
|
|
NC_000016.10:g.(89799233_89799604)_(89799639_89803258)del
|
|
|
NC_000016.10:g.(89799639_89803258)_(89805393_89808293)del
|
|
|
NC_000016.10:g.(89805393_89808293)_(89808368_89810706)del
|
|
|
NC_000016.10:g.(?_13821951)_(13937868_?)dup
|
|
|
NC_000016.10:g.(?_89737551)_(89740100_89740803)del
|
|
|
NC_000016.10:g.(?_89737551)_(89758706_89761948)del
|
|
|
NC_000016.10:g.(?_89737551)_(89767238_89769836)del
|
|
|
NC_000016.10:g.(?_89737551)_(89815987_89816536)del
|
|
|
NC_000016.10:g.(?_89738601)_(89816616_?)dup
|
|
|
NC_000016.10:g.(?_89795896)_(89805402_?)del
|
|
|
NC_000016.10:g.(?_89814510)_(89816616_?)dup
|
|
|
NC_000016.9:g.(89815176_89816137)_(89866047_89869666)del
|
|
|
NC_000016.9:g.(?_13915808)_(14724045_?)dup
|
|
|
NC_000016.9:g.(?_14031613)_(14031725_?)del
|
|
|
NC_000016.9:g.(?_29802081)_(30199917_?)dup
|
|
|
NC_000016.9:g.(?_30066083)_(30081533_?)dup
|
|
|
NC_000016.9:g.(?_3632337)_(3658971_?)dup
|
|
|
NC_000016.9:g.(?_3638993)_(3658965_?)dup
|
|
|
NC_000016.9:g.(?_87636753)_(90109753_?)dup
|
|
|
NC_000016.9:g.(?_89556653)_(89851392_?)dup
|
|
|
NC_000016.9:g.(?_89611036)_(90106937_?)dup
|
|
|
NC_000016.9:g.(?_89805009)_(89809366_?)dup
|
|
|
NC_000016.9:g.(?_89805009)_(89813308_?)dup
|
|
|
NC_000016.9:g.(?_89805009)_(89818650_?)dup
|
|
|
NC_000016.9:g.(?_89805009)_(89831484_?)dup
|
|
|
NC_000016.9:g.(?_89805009)_(89858965_?)dup
|
|
|
NC_000016.9:g.(?_89805009)_(89866066_?)dup
|
|
|
NC_000016.9:g.(?_89805270)_(89806527_?)dup
|
|
|
NC_000016.9:g.(?_89805270)_(89807294_?)dup
|
|
|
NC_000016.9:g.(?_89824965)_(89883023_?)dup
|
|
|
NC_000016.9:g.(?_89842130)_(89883023_?)dup
|
|
|
NC_000016.9:g.(?_89869657)_(89881031_?)dup
|
|
|
NC_000016.9:g.(?_89880928)_(89883065_?)dup
|
|
|
NC_000016.9:g.(?_89882935)_(89883024_?)dup
|
|
|
NC_000016.9:g.89645037_89810099del
|
|
|
NC_000017.10:g.(?_56432304)_(56811583_?)dup
|
|
|
NC_000017.10:g.(?_56769986)_(56772560_?)dup
|
|
|
NC_000017.10:g.(?_56769986)_(56801482_?)dup
|
|
|
NC_000017.10:g.(?_56769986)_(56811583_?)dup
|
|
|
NC_000017.10:g.(?_56769995)_(56801471_?)dup
|
|
|
NC_000017.10:g.(?_56769995)_(56811593_?)dup
|
|
|
NC_000017.10:g.(?_56769999)_(56774226_?)dup
|
|
|
NC_000017.10:g.(?_56769999)_(56801467_?)dup
|
|
|
NC_000017.10:g.(?_56769999)_(56811589_?)dup
|
|
|
NC_000017.10:g.(?_56770005)_(56801481_?)dup
|
|
|
NC_000017.10:g.(?_56772286)_(56774226_?)dup
|
|
|
NC_000017.10:g.(?_56780547)_(56811583_?)dup
|
|
|
NC_000017.10:g.(?_56787210)_(56787361_?)dup
|
|
|
NC_000017.10:g.(?_56787214)_(56787357_?)dup
|
|
|
NC_000017.10:g.(?_56809835)_(56811583_?)dup
|
|
|
NC_000017.10:g.(?_59760647)_(59761511_?)dup
|
|
|
NC_000017.10:g.(?_59760647)_(59938910_?)dup
|
|
|
NC_000017.10:g.(?_59760651)_(59938906_?)dup
|
|
|
NC_000017.10:g.(?_59760657)_(59763536_?)dup
|
|
|
NC_000017.10:g.(?_59760657)_(59886138_?)dup
|
|
|
NC_000017.10:g.(?_59760657)_(59938900_?)dup
|
|
|
NC_000017.10:g.(?_59820354)_(59886138_?)dup
|
|
|
NC_000017.10:g.(?_59820364)_(59886128_?)dup
|
|
|
NC_000017.10:g.(?_59820374)_(59886118_?)dup
|
|
|
NC_000017.10:g.(?_59853752)_(59853933_?)del
|
|
|
NC_000017.10:g.(?_59853752)_(59938900_?)dup
|
|
|
NC_000017.10:g.(?_59853752)_(59938910_?)dup
|
|
|
NC_000017.10:g.(?_59853756)_(59938906_?)dup
|
|
|
NC_000017.10:g.(?_59861621)_(59938900_?)dup
|
|
|
NC_000017.10:g.(?_59861625)_(59938906_?)dup
|
|
|
NC_000017.10:g.(?_59870948)_(59938900_?)dup
|
|
|
NC_000017.10:g.(?_59870952)_(59876666_?)del
|
|
|
NC_000017.10:g.(?_59870952)_(59886124_?)dup
|
|
|
NC_000017.10:g.(?_59885808)_(59938900_?)dup
|
|
|
NC_000017.10:g.(?_59885818)_(59938900_?)dup
|
|
|
NC_000017.10:g.(?_59885822)_(59938906_?)dup
|
|
|
NC_000017.10:g.(?_59924452)_(59938900_?)dup
|
|
|
NC_000017.10:g.(?_59924456)_(59938906_?)dup
|
|
|
NC_000017.10:g.(?_59937147)_(59938900_?)dup
|
|
|
NC_000017.10:g.(?_59938798)_(59938900_?)dup
|
|
|
NC_000017.10:g.(?_8131498)_(8285628_?)dup
|
|
|
NC_000017.10:g.(?_8192101)_(8283260_?)dup
|
|
|
NC_000017.10:g.(?_8280834)_(8283254_?)dup
|
|
|
NC_000017.11:g.(?_58692625)_(58696869_?)dup
|
|
|
NC_000017.11:g.(?_58692625)_(58710000_?)dup
|
|
|
NC_000017.11:g.(?_58692634)_(58692798_?)dup
|
|
|
NC_000017.11:g.(?_58692634)_(58710000_?)dup
|
|
|
NC_000017.11:g.(?_58709849)_(58734232_?)dup
|
|
|
NC_000017.11:g.(?_58720736)_(58734232_?)dup
|
|
|
NC_000017.11:g.(?_61683286)_(61808767_?)dup
|
|
|
NC_000017.11:g.(?_61683296)_(61684150_?)dup
|
|
|
NC_000017.11:g.(?_61683296)_(61693522_?)dup
|
|
|
NC_000017.11:g.(?_61685826)_(61686175_?)del
|
|
|
NC_000017.11:g.(?_61715941)_(61716073_?)dup
|
|
|
NC_000017.11:g.(?_61743003)_(61781015_?)dup
|
|
|
NC_000017.11:g.(?_61780251)_(61784434_?)del
|
|
|
NC_000017.11:g.(?_61780255)_(61784430_?)del
|
|
|
NC_000017.11:g.(?_61793587)_(61799309_?)del
|
|
|
NC_000017.11:g.(?_61799090)_(61861539_?)dup
|
|
|
NC_000017.11:g.(?_61847091)_(61861549_?)dup
|
|
|
NC_000017.11:g.(?_61857048)_(61857241_?)del
|
|
|
NC_000017.11:g.(?_61861437)_(61861549_?)dup
|
|
|
NC_000017.11:g.(?_8228170)_(8382320_?)dup
|
|
|
NC_000019.9:g.(?_39904727)_(42931301_?)dup
|
|
|
NC_000019.9:g.(?_42363988)_(42364359_?)del
|
|
|
NC_000020.10:g.(?_18449649)_(18541384_?)dup
|
|
|
NC_000020.10:g.(?_18516277)_(18516406_?)del
|
|
|
NC_000020.10:g.(?_18541275)_(18541384_?)del
|
|
|
NC_000021.9:g.(?_46136967)_(46155543_?)dup
|
|
|
NC_000022.10:g.(?_31003319)_(31022508_?)dup
|
|
|
NC_000022.10:g.(?_31008840)_(31013502_?)del
|
|
|
NC_000023.10:g.(?_14861689)_(14877476_?)dup
|
|
|
NC_000023.10:g.(?_14861689)_(14883702_?)dup
|
|
|
NC_000023.10:g.(?_14861689)_(15870650_?)dup
|
|
|
NC_000023.10:g.(?_153195397)_(153583460_?)dup
|
|
|
NC_000023.10:g.(?_153640181)_(153775961_?)dup
|
|
|
NC_000023.10:g.(?_153760215)_(153764413_?)dup
|
|
|
NC_000023.10:g.(?_153760215)_(153775961_?)dup
|
|
|
NC_000023.10:g.(?_153762230)_(153775961_?)dup
|
|
|
NC_000023.10:g.(?_48543926)_(48652581_?)dup
|
|
|
NC_000023.10:g.(?_48649517)_(48652571_?)dup
|
|
|
NC_000023.11:g.(?_14843557)_(14873062_?)dup
|
|
|
NC_000023.11:g.154534338dup
|
rs2148330517
|
|
NC_000023.11:g.154547746G>T
|
rs2148357351
|
|
NM_000032.5(ALAS2):c.-15-1829T>C
|
|
|
NM_000032.5(ALAS2):c.-16+6A>G
|
rs1935989193
|
|
NM_000032.5(ALAS2):c.1007C>A (p.Ala336Asp)
|
rs1935687757
|
|
NM_000032.5(ALAS2):c.1178T>C (p.Phe393Ser)
|
|
|
NM_000032.5(ALAS2):c.146C>T (p.Ser49Phe)
|
|
|
NM_000032.5(ALAS2):c.1500T>C (p.Tyr500=)
|
rs1602244633
|
|
NM_000032.5(ALAS2):c.272_274dup (p.Glu91_Val92insGlu)
|
|
|
NM_000032.5(ALAS2):c.304+1G>C
|
|
|
NM_000032.5(ALAS2):c.741C>T (p.His247=)
|
rs1057515971
|
|
NM_000037.4(ANK1):c.*1062T>G
|
rs886062934
|
|
NM_000037.4(ANK1):c.*1242G>T
|
rs886062932
|
|
NM_000037.4(ANK1):c.*1250A>G
|
rs1805075039
|
|
NM_000037.4(ANK1):c.*1424C>T
|
rs1312631766
|
|
NM_000037.4(ANK1):c.*1474C>T
|
rs1805004224
|
|
NM_000037.4(ANK1):c.*1590G>A
|
rs572470025
|
|
NM_000037.4(ANK1):c.*1808A>G
|
rs1462339318
|
|
NM_000037.4(ANK1):c.*1858A>C
|
rs372070501
|
|
NM_000037.4(ANK1):c.*1880C>A
|
rs1238270293
|
|
NM_000037.4(ANK1):c.*1892G>T
|
rs116365681
|
|
NM_000037.4(ANK1):c.*2409C>T
|
rs951243751
|
|
NM_000037.4(ANK1):c.*378T>G
|
rs1805325198
|
|
NM_000037.4(ANK1):c.*437A>C
|
rs1475025499
|
|
NM_000037.4(ANK1):c.*651A>C
|
rs886062936
|
|
NM_000037.4(ANK1):c.*822G>A
|
rs1805185515
|
|
NM_000037.4(ANK1):c.-63A>G
|
rs1849016140
|
|
NM_000037.4(ANK1):c.1028A>C (p.His343Pro)
|
|
|
NM_000037.4(ANK1):c.1050C>T (p.His350=)
|
rs1828761369
|
|
NM_000037.4(ANK1):c.1131C>A (p.Ile377=)
|
rs373336198
|
|
NM_000037.4(ANK1):c.1143del (p.Asn382fs)
|
|
|
NM_000037.4(ANK1):c.1150G>A (p.Val384Ile)
|
|
|
NM_000037.4(ANK1):c.1179G>A (p.Thr393=)
|
rs886062941
|
|
NM_000037.4(ANK1):c.1187C>T (p.Ser396Leu)
|
|
|
NM_000037.4(ANK1):c.1228G>A (p.Val410Met)
|
|
|
NM_000037.4(ANK1):c.1277G>A (p.Arg426Gln)
|
rs776721065
|
|
NM_000037.4(ANK1):c.1303G>A (p.Val435Met)
|
|
|
NM_000037.4(ANK1):c.1351G>A (p.Glu451Lys)
|
|
|
NM_000037.4(ANK1):c.1404+15C>A
|
rs201598401
|
|
NM_000037.4(ANK1):c.1435C>T (p.Arg479Cys)
|
|
|
NM_000037.4(ANK1):c.1438A>G (p.Ile480Val)
|
|
|
NM_000037.4(ANK1):c.1540G>T (p.Gly514Cys)
|
|
|
NM_000037.4(ANK1):c.1603-3C>A
|
|
|
NM_000037.4(ANK1):c.1693G>T (p.Ala565Ser)
|
rs1827218179
|
|
NM_000037.4(ANK1):c.1729G>A (p.Val577Ile)
|
|
|
NM_000037.4(ANK1):c.1771C>G (p.Arg591Gly)
|
rs754903343
|
|
NM_000037.4(ANK1):c.1786C>A (p.His596Asn)
|
|
|
NM_000037.4(ANK1):c.1801-3C>G
|
|
|
NM_000037.4(ANK1):c.1828G>T (p.Ala610Ser)
|
|
|
NM_000037.4(ANK1):c.1888G>A (p.Ala630Thr)
|
|
|
NM_000037.4(ANK1):c.1910C>T (p.Thr637Met)
|
|
|
NM_000037.4(ANK1):c.1948A>G (p.Met650Val)
|
rs1057518790
|
|
NM_000037.4(ANK1):c.1982G>A (p.Gly661Asp)
|
|
|
NM_000037.4(ANK1):c.1998+5G>A
|
rs946534987
|
|
NM_000037.4(ANK1):c.2098-5T>C
|
rs2150613009
|
|
NM_000037.4(ANK1):c.2234G>A (p.Gly745Glu)
|
|
|
NM_000037.4(ANK1):c.2258T>C (p.Leu753Pro)
|
rs1823867456
|
|
NM_000037.4(ANK1):c.2294C>T (p.Ser765Leu)
|
|
|
NM_000037.4(ANK1):c.2369C>T (p.Thr790Met)
|
|
|
NM_000037.4(ANK1):c.2389-8C>A
|
|
|
NM_000037.4(ANK1):c.2395A>C (p.Ser799Arg)
|
|
|
NM_000037.4(ANK1):c.242C>A (p.Ala81Asp)
|
|
|
NM_000037.4(ANK1):c.2447T>A (p.Val816Asp)
|
|
|
NM_000037.4(ANK1):c.247C>T (p.His83Tyr)
|
|
|
NM_000037.4(ANK1):c.248A>C (p.His83Pro)
|
|
|
NM_000037.4(ANK1):c.2508T>A (p.Asp836Glu)
|
rs776018872
|
|
NM_000037.4(ANK1):c.2510T>C (p.Val837Ala)
|
|
|
NM_000037.4(ANK1):c.2539G>T (p.Val847Leu)
|
|
|
NM_000037.4(ANK1):c.253G>A (p.Ala85Thr)
|
|
|
NM_000037.4(ANK1):c.253G>T (p.Ala85Ser)
|
|
|
NM_000037.4(ANK1):c.2572G>C (p.Ala858Pro)
|
|
|
NM_000037.4(ANK1):c.2637G>A (p.Gln879=)
|
|
|
NM_000037.4(ANK1):c.265G>A (p.Gly89Arg)
|
|
|
NM_000037.4(ANK1):c.28-6_29dup
|
|
|
NM_000037.4(ANK1):c.2810T>C (p.Val937Ala)
|
rs1586181590
|
|
NM_000037.4(ANK1):c.283C>T (p.Arg95Trp)
|
|
|
NM_000037.4(ANK1):c.2855G>A (p.Arg952His)
|
|
|
NM_000037.4(ANK1):c.2924T>C (p.Ile975Thr)
|
|
|
NM_000037.4(ANK1):c.2971G>A (p.Val991Met)
|
|
|
NM_000037.4(ANK1):c.2972T>G (p.Val991Gly)
|
rs1820556702
|
|
NM_000037.4(ANK1):c.2981C>T (p.Pro994Leu)
|
rs753931863
|
|
NM_000037.4(ANK1):c.3019G>A (p.Val1007Met)
|
|
|
NM_000037.4(ANK1):c.3049T>G (p.Trp1017Gly)
|
|
|
NM_000037.4(ANK1):c.3068G>A (p.Arg1023His)
|
|
|
NM_000037.4(ANK1):c.310G>A (p.Val104Ile)
|
|
|
NM_000037.4(ANK1):c.3178C>A (p.Pro1060Thr)
|
|
|
NM_000037.4(ANK1):c.3179C>T (p.Pro1060Leu)
|
rs267601925
|
|
NM_000037.4(ANK1):c.3202C>T (p.Arg1068Trp)
|
rs1820329178
|
|
NM_000037.4(ANK1):c.3220G>A (p.Asp1074Asn)
|
|
|
NM_000037.4(ANK1):c.3235G>A (p.Glu1079Lys)
|
|
|
NM_000037.4(ANK1):c.327G>A (p.Gln109=)
|
|
|
NM_000037.4(ANK1):c.3280A>G (p.Thr1094Ala)
|
|
|
NM_000037.4(ANK1):c.3342G>T (p.Pro1114=)
|
rs374102892
|
|
NM_000037.4(ANK1):c.3386G>T (p.Ser1129Ile)
|
rs2150592257
|
|
NM_000037.4(ANK1):c.3387C>A (p.Ser1129Arg)
|
|
|
NM_000037.4(ANK1):c.3395T>A (p.Val1132Asp)
|
|
|
NM_000037.4(ANK1):c.344T>A (p.Leu115Gln)
|
|
|
NM_000037.4(ANK1):c.344T>C (p.Leu115Pro)
|
rs1586505238
|
|
NM_000037.4(ANK1):c.3553T>G (p.Trp1185Gly)
|
|
|
NM_000037.4(ANK1):c.356C>G (p.Ala119Gly)
|
rs2150661855
|
|
NM_000037.4(ANK1):c.3598T>C (p.Cys1200Arg)
|
|
|
NM_000037.4(ANK1):c.3641C>T (p.Ser1214Leu)
|
|
|
NM_000037.4(ANK1):c.3717G>A (p.Met1239Ile)
|
rs1819636555
|
|
NM_000037.4(ANK1):c.3727G>A (p.Val1243Ile)
|
|
|
NM_000037.4(ANK1):c.3763C>T (p.Arg1255Cys)
|
|
|
NM_000037.4(ANK1):c.3820G>A (p.Glu1274Lys)
|
|
|
NM_000037.4(ANK1):c.3829G>C (p.Val1277Leu)
|
|
|
NM_000037.4(ANK1):c.3857A>G (p.Glu1286Gly)
|
|
|
NM_000037.4(ANK1):c.3858+4A>G
|
|
|
NM_000037.4(ANK1):c.3946C>G (p.Gln1316Glu)
|
|
|
NM_000037.4(ANK1):c.3971C>T (p.Ala1324Val)
|
rs1228458158
|
|
NM_000037.4(ANK1):c.3985-10T>C
|
rs886062940
|
|
NM_000037.4(ANK1):c.4030C>T (p.Arg1344Cys)
|
|
|
NM_000037.4(ANK1):c.4060C>T (p.His1354Tyr)
|
rs764226906
|
|
NM_000037.4(ANK1):c.4104G>C (p.Lys1368Asn)
|
|
|
NM_000037.4(ANK1):c.4114G>A (p.Ala1372Thr)
|
|
|
NM_000037.4(ANK1):c.4306C>T (p.Arg1436Ter)
|
rs1586072383
|
|
NM_000037.4(ANK1):c.4370G>A (p.Arg1457His)
|
|
|
NM_000037.4(ANK1):c.4427G>T (p.Arg1476Leu)
|
|
|
NM_000037.4(ANK1):c.4444A>G (p.Met1482Val)
|
rs2150578454
|
|
NM_000037.4(ANK1):c.4492C>T (p.Arg1498Trp)
|
|
|
NM_000037.4(ANK1):c.4497C>T (p.His1499=)
|
rs370037242
|
|
NM_000037.4(ANK1):c.4501G>C (p.Asp1501His)
|
|
|
NM_000037.4(ANK1):c.4524C>T (p.Pro1508=)
|
rs886062938
|
|
NM_000037.4(ANK1):c.4538G>A (p.Gly1513Asp)
|
|
|
NM_000037.4(ANK1):c.455T>C (p.Leu152Pro)
|
|
|
NM_000037.4(ANK1):c.4694_4711del (p.Asp1565_Ser1570del)
|
|
|
NM_000037.4(ANK1):c.4783G>A (p.Ala1595Thr)
|
|
|
NM_000037.4(ANK1):c.5033G>T (p.Arg1678Met)
|
|
|
NM_000037.4(ANK1):c.5096G>A (p.Arg1699Lys)
|
|
|
NM_000037.4(ANK1):c.5126T>C (p.Ile1709Thr)
|
|
|
NM_000037.4(ANK1):c.5189A>T (p.His1730Leu)
|
|
|
NM_000037.4(ANK1):c.5207G>T (p.Ser1736Ile)
|
|
|
NM_000037.4(ANK1):c.5282C>T (p.Thr1761Met)
|
|
|
NM_000037.4(ANK1):c.5333G>A (p.Arg1778Lys)
|
|
|
NM_000037.4(ANK1):c.5372A>T (p.Asn1791Ile)
|
|
|
NM_000037.4(ANK1):c.5395-1079G>A
|
|
|
NM_000037.4(ANK1):c.5395-1085T>G
|
|
|
NM_000037.4(ANK1):c.5606T>G (p.Ile1869Arg)
|
|
|
NM_000037.4(ANK1):c.5628A>G (p.Lys1876=)
|
rs184665931
|
|
NM_000037.4(ANK1):c.5633G>A (p.Gly1878Glu)
|
|
|
NM_000037.4(ANK1):c.634A>G (p.Ile212Val)
|
|
|
NM_000037.4(ANK1):c.659A>G (p.Asn220Ser)
|
|
|
NM_000037.4(ANK1):c.694G>A (p.Val232Ile)
|
|
|
NM_000037.4(ANK1):c.711+3A>C
|
|
|
NM_000037.4(ANK1):c.749G>T (p.Gly250Val)
|
|
|
NM_000037.4(ANK1):c.758T>G (p.Ile253Ser)
|
rs770333748
|
|
NM_000037.4(ANK1):c.761T>C (p.Met254Thr)
|
|
|
NM_000037.4(ANK1):c.782G>A (p.Arg261Gln)
|
|
|
NM_000037.4(ANK1):c.806C>T (p.Thr269Ile)
|
|
|
NM_000037.4(ANK1):c.830A>C (p.His277Pro)
|
rs1829714663
|
|
NM_000037.4(ANK1):c.875T>C (p.Leu292Pro)
|
rs1829705168
|
|
NM_000037.4(ANK1):c.931A>G (p.Met311Val)
|
rs2150644664
|
|
NM_000037.4(ANK1):c.935C>A (p.Ala312Glu)
|
rs1036457270
|
|
NM_000037.4(ANK1):c.935C>T (p.Ala312Val)
|
|
|
NM_000037.4(ANK1):c.958T>C (p.Cys320Arg)
|
|
|
NM_000037.4(ANK1):c.964C>A (p.Arg322=)
|
rs770743762
|
|
NM_000037.4(ANK1):c.964C>T (p.Arg322Trp)
|
|
|
NM_000037.4(ANK1):c.965G>T (p.Arg322Leu)
|
rs183864227
|
|
NM_000037.4(ANK1):c.985G>T (p.Ala329Ser)
|
rs746138074
|
|
NM_000059.3(BRCA2):c.-210A>G
|
rs886050111
|
|
NM_000059.4(BRCA2):c.*292A>C
|
rs886050112
|
|
NM_000059.4(BRCA2):c.*360dup
|
rs886050114
|
|
NM_000059.4(BRCA2):c.*399T>C
|
rs886050115
|
|
NM_000059.4(BRCA2):c.*416G>T
|
rs886050116
|
|
NM_000059.4(BRCA2):c.*675C>A
|
rs886050117
|
|
NM_000059.4(BRCA2):c.*696G>A
|
rs886050118
|
|
NM_000059.4(BRCA2):c.1001A>G (p.His334Arg)
|
rs587782016
|
|
NM_000059.4(BRCA2):c.1146A>T (p.Lys382Asn)
|
rs431825280
|
|
NM_000059.4(BRCA2):c.1166C>A (p.Pro389Gln)
|
rs397507263
|
|
NM_000059.4(BRCA2):c.1220A>G (p.Gln407Arg)
|
rs1593892264
|
|
NM_000059.4(BRCA2):c.1224G>A (p.Met408Ile)
|
rs1593892275
|
|
NM_000059.4(BRCA2):c.1247T>G (p.Ile416Ser)
|
rs80358418
|
|
NM_000059.4(BRCA2):c.1274A>G (p.Glu425Gly)
|
rs768169574
|
|
NM_000059.4(BRCA2):c.1282C>A (p.Leu428Ile)
|
rs547590567
|
|
NM_000059.4(BRCA2):c.1304G>A (p.Arg435Lys)
|
rs398122725
|
|
NM_000059.4(BRCA2):c.1433C>A (p.Thr478Lys)
|
rs431825282
|
|
NM_000059.4(BRCA2):c.1460C>A (p.Ala487Glu)
|
rs56390402
|
|
NM_000059.4(BRCA2):c.1517T>C (p.Phe506Ser)
|
rs1249900164
|
|
NM_000059.4(BRCA2):c.184T>C (p.Phe62Leu)
|
rs2072286770
|
|
NM_000059.4(BRCA2):c.1905T>G (p.Asp635Glu)
|
rs1555282154
|
|
NM_000059.4(BRCA2):c.2231C>T (p.Ser744Leu)
|
rs397507282
|
|
NM_000059.4(BRCA2):c.2240A>G (p.Glu747Gly)
|
rs397507283
|
|
NM_000059.4(BRCA2):c.2245A>G (p.Ser749Gly)
|
rs80358495
|
|
NM_000059.4(BRCA2):c.2249A>T (p.Asp750Val)
|
rs1555282574
|
|
NM_000059.4(BRCA2):c.2405A>G (p.Asn802Ser)
|
rs876661089
|
|
NM_000059.4(BRCA2):c.2464T>C (p.Cys822Arg)
|
rs80358512
|
|
NM_000059.4(BRCA2):c.2526A>G (p.Val842=)
|
rs770778164
|
|
NM_000059.4(BRCA2):c.2596G>A (p.Glu866Lys)
|
rs864622476
|
|
NM_000059.4(BRCA2):c.2606C>T (p.Ser869Leu)
|
rs80358523
|
|
NM_000059.4(BRCA2):c.2657A>G (p.Asn886Ser)
|
rs80358526
|
|
NM_000059.4(BRCA2):c.2803G>C (p.Asp935His)
|
rs28897716
|
|
NM_000059.4(BRCA2):c.3020G>T (p.Gly1007Val)
|
rs1566227648
|
|
NM_000059.4(BRCA2):c.3226G>A (p.Val1076Ile)
|
rs431825304
|
|
NM_000059.4(BRCA2):c.3415A>C (p.Lys1139Gln)
|
rs747903103
|
|
NM_000059.4(BRCA2):c.3447G>A (p.Met1149Ile)
|
rs876660471
|
|
NM_000059.4(BRCA2):c.3497T>A (p.Val1166Asp)
|
rs762886975
|
|
NM_000059.4(BRCA2):c.3808G>A (p.Val1270Ile)
|
rs876658938
|
|
NM_000059.4(BRCA2):c.3824T>C (p.Ile1275Thr)
|
rs80358625
|
|
NM_000059.4(BRCA2):c.4310G>C (p.Ser1437Thr)
|
rs1403318277
|
|
NM_000059.4(BRCA2):c.4396T>A (p.Leu1466Ile)
|
rs1555283763
|
|
NM_000059.4(BRCA2):c.4574A>G (p.His1525Arg)
|
rs397507336
|
|
NM_000059.4(BRCA2):c.4825A>G (p.Thr1609Ala)
|
rs876659201
|
|
NM_000059.4(BRCA2):c.4991T>C (p.Ile1664Thr)
|
rs863224590
|
|
NM_000059.4(BRCA2):c.5229_5231del (p.Ser1744del)
|
rs397507349
|
|
NM_000059.4(BRCA2):c.5267T>A (p.Val1756Glu)
|
rs770664957
|
|
NM_000059.4(BRCA2):c.5602G>A (p.Asp1868Asn)
|
rs80358781
|
|
NM_000059.4(BRCA2):c.5604C>T (p.Asp1868=)
|
rs1401654517
|
|
NM_000059.4(BRCA2):c.561G>A (p.Glu187=)
|
rs754678843
|
|
NM_000059.4(BRCA2):c.5747A>G (p.His1916Arg)
|
rs431825334
|
|
NM_000059.4(BRCA2):c.587G>T (p.Ser196Ile)
|
rs80358818
|
|
NM_000059.4(BRCA2):c.5938A>C (p.Thr1980Pro)
|
rs55877890
|
|
NM_000059.4(BRCA2):c.5986G>T (p.Ala1996Ser)
|
rs80358833
|
|
NM_000059.4(BRCA2):c.6101G>A (p.Arg2034His)
|
rs80358849
|
|
NM_000059.4(BRCA2):c.6131G>C (p.Gly2044Ala)
|
rs56191579
|
|
NM_000059.4(BRCA2):c.6148G>A (p.Val2050Ile)
|
rs80358854
|
|
NM_000059.4(BRCA2):c.6237G>A (p.Val2079=)
|
rs864622516
|
|
NM_000059.4(BRCA2):c.632-3C>T
|
rs568027879
|
|
NM_000059.4(BRCA2):c.6530T>C (p.Ile2177Thr)
|
rs1060502462
|
|
NM_000059.4(BRCA2):c.679G>A (p.Ala227Thr)
|
rs398122563
|
|
NM_000059.4(BRCA2):c.6818G>A (p.Arg2273Lys)
|
rs587782174
|
|
NM_000059.4(BRCA2):c.6826C>A (p.Pro2276Thr)
|
rs80358907
|
|
NM_000059.4(BRCA2):c.6886A>C (p.Ile2296Leu)
|
rs576279166
|
|
NM_000059.4(BRCA2):c.7034A>G (p.Gln2345Arg)
|
rs876661187
|
|
NM_000059.4(BRCA2):c.7163C>T (p.Thr2388Ile)
|
rs1555286026
|
|
NM_000059.4(BRCA2):c.7188G>A (p.Leu2396=)
|
rs587780871
|
|
NM_000059.4(BRCA2):c.7420GAA[2] (p.Glu2476del)
|
rs876659222
|
|
NM_000059.4(BRCA2):c.7435+10G>A
|
rs81002793
|
|
NM_000059.4(BRCA2):c.7464A>C (p.Arg2488Ser)
|
rs80358969
|
|
NM_000059.4(BRCA2):c.7625C>T (p.Thr2542Met)
|
rs80358989
|
|
NM_000059.4(BRCA2):c.7693G>A (p.Glu2565Lys)
|
rs764761862
|
|
NM_000059.4(BRCA2):c.7781A>G (p.Lys2594Arg)
|
rs876660874
|
|
NM_000059.4(BRCA2):c.7954G>A (p.Val2652Met)
|
rs1466452770
|
|
NM_000059.4(BRCA2):c.7992T>G (p.Ile2664Met)
|
rs80359800
|
|
NM_000059.4(BRCA2):c.8007A>T (p.Arg2669Ser)
|
rs143999963
|
|
NM_000059.4(BRCA2):c.844C>G (p.His282Asp)
|
rs768605944
|
|
NM_000059.4(BRCA2):c.8530G>A (p.Glu2844Lys)
|
rs755783122
|
|
NM_000059.4(BRCA2):c.8817G>C (p.Lys2939Asn)
|
rs397507414
|
|
NM_000059.4(BRCA2):c.8825C>T (p.Ala2942Val)
|
rs373227180
|
|
NM_000059.4(BRCA2):c.8834A>G (p.Gln2945Arg)
|
rs587781800
|
|
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn)
|
rs28897754
|
|
NM_000059.4(BRCA2):c.9052_9057del (p.3015KS[2])
|
rs786202063
|
|
NM_000059.4(BRCA2):c.9071A>C (p.Asn3024Thr)
|
rs587781493
|
|
NM_000059.4(BRCA2):c.9113_9115dup (p.Leu3038dup)
|
rs80359749
|
|
NM_000059.4(BRCA2):c.9218A>G (p.Asp3073Gly)
|
rs80359186
|
|
NM_000059.4(BRCA2):c.9275A>T (p.Tyr3092Phe)
|
rs80359195
|
|
NM_000059.4(BRCA2):c.9295A>G (p.Asn3099Asp)
|
rs1555289516
|
|
NM_000059.4(BRCA2):c.942A>G (p.Lys314=)
|
rs1384322636
|
|
NM_000059.4(BRCA2):c.956A>C (p.Asn319Thr)
|
rs55939572
|
|
NM_000059.4(BRCA2):c.956A>G (p.Asn319Ser)
|
rs55939572
|
|
NM_000059.4(BRCA2):c.9606G>A (p.Pro3202=)
|
rs755890067
|
|
NM_000059.4(BRCA2):c.9760A>G (p.Lys3254Glu)
|
rs2073050616
|
|
NM_000064.4(C3):c.1921G>A (p.Asp641Asn)
|
rs1348311492
|
|
NM_000064.4(C3):c.3635C>T (p.Thr1212Ile)
|
|
|
NM_000096.4(CP):c.*1007T>A
|
rs36120450
|
|
NM_000096.4(CP):c.*373C>T
|
rs370247691
|
|
NM_000096.4(CP):c.*536G>C
|
rs1725167347
|
|
NM_000096.4(CP):c.*583T>C
|
rs886058084
|
|
NM_000096.4(CP):c.1019A>G (p.Asn340Ser)
|
|
|
NM_000096.4(CP):c.1036+15C>T
|
|
|
NM_000096.4(CP):c.1079C>A (p.Ser360Tyr)
|
|
|
NM_000096.4(CP):c.1081T>C (p.Ser361Pro)
|
|
|
NM_000096.4(CP):c.1100G>T (p.Arg367Leu)
|
rs199930098
|
|
NM_000096.4(CP):c.1169T>C (p.Ile390Thr)
|
|
|
NM_000096.4(CP):c.1175T>A (p.Ile392Asn)
|
rs1481132976
|
|
NM_000096.4(CP):c.117T>A (p.His39Gln)
|
|
|
NM_000096.4(CP):c.1199C>A (p.Ala400Glu)
|
rs1446212124
|
|
NM_000096.4(CP):c.119G>C (p.Gly40Ala)
|
rs748730192
|
|
NM_000096.4(CP):c.1201C>T (p.Pro401Ser)
|
|
|
NM_000096.4(CP):c.1208+6T>A
|
rs2108287218
|
|
NM_000096.4(CP):c.1208+6T>C
|
rs2108287218
|
|
NM_000096.4(CP):c.1312G>C (p.Glu438Gln)
|
rs2108277804
|
|
NM_000096.4(CP):c.1313A>G (p.Glu438Gly)
|
rs1553761979
|
|
NM_000096.4(CP):c.1324G>A (p.Glu442Lys)
|
|
|
NM_000096.4(CP):c.1333C>T (p.His445Tyr)
|
|
|
NM_000096.4(CP):c.1337T>C (p.Leu446Pro)
|
rs1727368255
|
|
NM_000096.4(CP):c.1401C>G (p.Asn467Lys)
|
|
|
NM_000096.4(CP):c.1409C>T (p.Ala470Val)
|
rs1460879036
|
|
NM_000096.4(CP):c.1448A>G (p.Asn483Ser)
|
rs781513940
|
|
NM_000096.4(CP):c.147-11T>G
|
|
|
NM_000096.4(CP):c.147-9T>A
|
|
|
NM_000096.4(CP):c.1526T>C (p.Val509Ala)
|
|
|
NM_000096.4(CP):c.1648T>A (p.Phe550Ile)
|
|
|
NM_000096.4(CP):c.1726A>G (p.Lys576Glu)
|
rs938967361
|
|
NM_000096.4(CP):c.1748C>T (p.Thr583Ile)
|
|
|
NM_000096.4(CP):c.1774C>G (p.Leu592Val)
|
rs200226362
|
|
NM_000096.4(CP):c.1774C>T (p.Leu592Phe)
|
rs200226362
|
|
NM_000096.4(CP):c.181G>T (p.Asp61Tyr)
|
|
|
NM_000096.4(CP):c.1826A>C (p.Lys609Thr)
|
rs2108243871
|
|
NM_000096.4(CP):c.1837G>A (p.Asp613Asn)
|
rs750202621
|
|
NM_000096.4(CP):c.1864+1G>C
|
rs1559942361
|
|
NM_000096.4(CP):c.1908G>A (p.Met636Ile)
|
rs2108240139
|
|
NM_000096.4(CP):c.1915G>A (p.Gly639Arg)
|
|
|
NM_000096.4(CP):c.1937T>C (p.Leu646Ser)
|
|
|
NM_000096.4(CP):c.1939T>C (p.Phe647Leu)
|
rs755977561
|
|
NM_000096.4(CP):c.1958_1963del (p.Ala653_Asp654del)
|
|
|
NM_000096.4(CP):c.1960G>T (p.Asp654Tyr)
|
rs755243937
|
|
NM_000096.4(CP):c.1973T>C (p.Ile658Thr)
|
rs1726190460
|
|
NM_000096.4(CP):c.1991C>T (p.Thr664Ile)
|
|
|
NM_000096.4(CP):c.19G>C (p.Gly7Arg)
|
|
|
NM_000096.4(CP):c.1del (p.Met1*)
|
rs750317184
|
|
NM_000096.4(CP):c.2012G>A (p.Arg671Gln)
|
|
|
NM_000096.4(CP):c.2027A>G (p.Asn676Ser)
|
rs2108239351
|
|
NM_000096.4(CP):c.2046T>G (p.Ser682Arg)
|
rs751013436
|
|
NM_000096.4(CP):c.2051C>T (p.Thr684Met)
|
|
|
NM_000096.4(CP):c.2056C>T (p.His686Tyr)
|
|
|
NM_000096.4(CP):c.2059A>G (p.Met687Val)
|
rs1726183089
|
|
NM_000096.4(CP):c.209C>T (p.Ala70Val)
|
rs2108302390
|
|
NM_000096.4(CP):c.2189G>T (p.Gly730Val)
|
rs1726090334
|
|
NM_000096.4(CP):c.2215G>C (p.Val739Leu)
|
|
|
NM_000096.4(CP):c.2227T>G (p.Trp743Gly)
|
|
|
NM_000096.4(CP):c.2268T>C (p.His756=)
|
rs765341479
|
|
NM_000096.4(CP):c.2286-14dup
|
rs561633350
|
|
NM_000096.4(CP):c.233A>G (p.Glu78Gly)
|
rs1451235847
|
|
NM_000096.4(CP):c.2342A>C (p.Lys781Thr)
|
|
|
NM_000096.4(CP):c.2347G>A (p.Val783Met)
|
|
|
NM_000096.4(CP):c.2354G>A (p.Arg785Gln)
|
rs1257682995
|
|
NM_000096.4(CP):c.2377C>T (p.Arg793Cys)
|
|
|
NM_000096.4(CP):c.2395A>C (p.Lys799Gln)
|
|
|
NM_000096.4(CP):c.2401GAA[2] (p.Glu803del)
|
rs1482869210
|
|
NM_000096.4(CP):c.2407G>C (p.Glu803Gln)
|
|
|
NM_000096.4(CP):c.2482G>A (p.Ala828Thr)
|
rs1161226577
|
|
NM_000096.4(CP):c.2496C>T (p.Tyr832=)
|
rs1199272207
|
|
NM_000096.4(CP):c.250A>G (p.Ile84Val)
|
|
|
NM_000096.4(CP):c.2554+15G>A
|
rs751719558
|
|
NM_000096.4(CP):c.2557G>A (p.Glu853Lys)
|
rs886058086
|
|
NM_000096.4(CP):c.2575T>C (p.Trp859Arg)
|
rs1725651811
|
|
NM_000096.4(CP):c.2594C>G (p.Ser865Cys)
|
rs1410133815
|
|
NM_000096.4(CP):c.2617G>A (p.Ala873Thr)
|
rs1472131747
|
|
NM_000096.4(CP):c.2621G>A (p.Cys874Tyr)
|
rs570400135
|
|
NM_000096.4(CP):c.2626C>T (p.Pro876Ser)
|
|
|
NM_000096.4(CP):c.2636A>T (p.Tyr879Phe)
|
|
|
NM_000096.4(CP):c.2650G>C (p.Asp884His)
|
rs2108219609
|
|
NM_000096.4(CP):c.2662-3C>T
|
|
|
NM_000096.4(CP):c.2698T>C (p.Cys900Arg)
|
|
|
NM_000096.4(CP):c.2732G>T (p.Arg911Ile)
|
|
|
NM_000096.4(CP):c.2741T>A (p.Leu914Gln)
|
|
|
NM_000096.4(CP):c.2741T>G (p.Leu914Arg)
|
|
|
NM_000096.4(CP):c.2762T>C (p.Leu921Pro)
|
rs1725565373
|
|
NM_000096.4(CP):c.277T>A (p.Leu93Ile)
|
|
|
NM_000096.4(CP):c.2782T>A (p.Ser928Thr)
|
rs2108216572
|
|
NM_000096.4(CP):c.2831A>G (p.Lys944Arg)
|
|
|
NM_000096.4(CP):c.2837A>G (p.Asn946Ser)
|
rs1185823259
|
|
NM_000096.4(CP):c.2860G>A (p.Glu954Lys)
|
|
|
NM_000096.4(CP):c.2886T>G (p.Asn962Lys)
|
|
|
NM_000096.4(CP):c.290_292del (p.Ile97del)
|
rs2108302022
|
|
NM_000096.4(CP):c.2947T>C (p.Tyr983His)
|
|
|
NM_000096.4(CP):c.2978T>C (p.Leu993Ser)
|
|
|
NM_000096.4(CP):c.3028G>A (p.Val1010Ile)
|
|
|
NM_000096.4(CP):c.3118T>C (p.Cys1040Arg)
|
|
|
NM_000096.4(CP):c.389A>G (p.His130Arg)
|
rs747953840
|
|
NM_000096.4(CP):c.393G>A (p.Glu131=)
|
rs754943824
|
|
NM_000096.4(CP):c.394+6T>C
|
|
|
NM_000096.4(CP):c.407C>T (p.Pro136Leu)
|
rs878959339
|
|
NM_000096.4(CP):c.438T>A (p.Asp146Glu)
|
|
|
NM_000096.4(CP):c.461A>C (p.Gln154Pro)
|
|
|
NM_000096.4(CP):c.508G>A (p.Gly170Arg)
|
rs886058089
|
|
NM_000096.4(CP):c.597C>G (p.Ile199Met)
|
rs1728013449
|
|
NM_000096.4(CP):c.678A>C (p.Glu226Asp)
|
|
|
NM_000096.4(CP):c.701A>G (p.Asp234Gly)
|
rs769311718
|
|
NM_000096.4(CP):c.732G>T (p.Glu244Asp)
|
rs917446548
|
|
NM_000096.4(CP):c.809T>C (p.Leu270Pro)
|
rs760359106
|
|
NM_000096.4(CP):c.80G>C (p.Gly27Ala)
|
|
|
NM_000096.4(CP):c.82A>T (p.Ile28Phe)
|
rs386134121
|
|
NM_000096.4(CP):c.850T>C (p.Tyr284His)
|
rs886058088
|
|
NM_000096.4(CP):c.886G>A (p.Ala296Thr)
|
rs765169503
|
|
NM_000096.4(CP):c.88G>C (p.Glu30Gln)
|
rs1728820847
|
|
NM_000096.4(CP):c.921G>A (p.Lys307=)
|
rs543777038
|
|
NM_000096.4(CP):c.952C>T (p.Pro318Ser)
|
|
|
NM_000096.4(CP):c.991C>A (p.Pro331Thr)
|
rs376348284
|
|
NM_000135.4(FANCA):c.*1012A>G
|
rs886052477
|
|
NM_000135.4(FANCA):c.*109C>T
|
rs55679217
|
|
NM_000135.4(FANCA):c.1000C>G (p.Leu334Val)
|
|
|
NM_000135.4(FANCA):c.1006+6C>A
|
|
|
NM_000135.4(FANCA):c.1006+6C>T
|
|
|
NM_000135.4(FANCA):c.1007-2dup
|
rs2143534850
|
|
NM_000135.4(FANCA):c.1007-3C>A
|
|
|
NM_000135.4(FANCA):c.1012G>C (p.Asp338His)
|
|
|
NM_000135.4(FANCA):c.1029G>C (p.Gln343His)
|
|
|
NM_000135.4(FANCA):c.1033G>A (p.Glu345Lys)
|
rs758168558
|
|
NM_000135.4(FANCA):c.1046C>A (p.Ala349Glu)
|
rs142620413
|
|
NM_000135.4(FANCA):c.1049G>T (p.Arg350Leu)
|
rs199967286
|
|
NM_000135.4(FANCA):c.1057C>G (p.Pro353Ala)
|
rs1449343629
|
|
NM_000135.4(FANCA):c.1061T>A (p.Leu354Gln)
|
|
|
NM_000135.4(FANCA):c.1063C>A (p.Leu355Ile)
|
|
|
NM_000135.4(FANCA):c.1066A>T (p.Thr356Ser)
|
|
|
NM_000135.4(FANCA):c.106_108del (p.Asn36del)
|
rs1598202748
|
|
NM_000135.4(FANCA):c.1079G>A (p.Arg360His)
|
|
|
NM_000135.4(FANCA):c.1082G>C (p.Arg361Thr)
|
|
|
NM_000135.4(FANCA):c.1083+5G>A
|
rs1412210234
|
|
NM_000135.4(FANCA):c.1083G>A (p.Arg361=)
|
rs2143534230
|
|
NM_000135.4(FANCA):c.1084-5T>G
|
|
|
NM_000135.4(FANCA):c.1084C>G (p.Leu362Val)
|
rs2040094709
|
|
NM_000135.4(FANCA):c.1093A>G (p.Met365Val)
|
rs2143530760
|
|
NM_000135.4(FANCA):c.1094T>G (p.Met365Arg)
|
rs2040094424
|
|
NM_000135.4(FANCA):c.1096C>G (p.Leu366Val)
|
|
|
NM_000135.4(FANCA):c.1097T>C (p.Leu366Pro)
|
rs2143530711
|
|
NM_000135.4(FANCA):c.1098G>C (p.Leu366=)
|
|
|
NM_000135.4(FANCA):c.1102G>A (p.Ala368Thr)
|
rs1598152904
|
|
NM_000135.4(FANCA):c.1112T>C (p.Leu371Ser)
|
|
|
NM_000135.4(FANCA):c.1115T>C (p.Val372Ala)
|
rs2040093870
|
|
NM_000135.4(FANCA):c.1123T>A (p.Leu375Met)
|
rs2040093515
|
|
NM_000135.4(FANCA):c.1124T>G (p.Leu375Trp)
|
rs2040093463
|
|
NM_000135.4(FANCA):c.1126C>G (p.Gln376Glu)
|
rs2040093330
|
|
NM_000135.4(FANCA):c.1127A>G (p.Gln376Arg)
|
rs2143530391
|
|
NM_000135.4(FANCA):c.113A>C (p.Glu38Ala)
|
|
|
NM_000135.4(FANCA):c.1143G>A (p.Thr381=)
|
rs1800331
|
|
NM_000135.4(FANCA):c.1144C>G (p.Gln382Glu)
|
rs769718381
|
|
NM_000135.4(FANCA):c.1145A>G (p.Gln382Arg)
|
rs747766198
|
|
NM_000135.4(FANCA):c.1150G>A (p.Val384Ile)
|
rs751071791
|
|
NM_000135.4(FANCA):c.1153C>G (p.His385Asp)
|
|
|
NM_000135.4(FANCA):c.1154A>G (p.His385Arg)
|
|
|
NM_000135.4(FANCA):c.1161G>C (p.Gln387His)
|
|
|
NM_000135.4(FANCA):c.1168C>A (p.Leu390Ile)
|
|
|
NM_000135.4(FANCA):c.1169T>G (p.Leu390Arg)
|
rs2143529925
|
|
NM_000135.4(FANCA):c.116G>C (p.Arg39Thr)
|
rs151089298
|
|
NM_000135.4(FANCA):c.1183G>A (p.Ala395Thr)
|
rs202062504
|
|
NM_000135.4(FANCA):c.1186C>G (p.Leu396Val)
|
|
|
NM_000135.4(FANCA):c.1195T>C (p.Cys399Arg)
|
rs2040090935
|
|
NM_000135.4(FANCA):c.1198T>C (p.Phe400Leu)
|
rs1360355945
|
|
NM_000135.4(FANCA):c.119C>T (p.Ala40Val)
|
rs563060518
|
|
NM_000135.4(FANCA):c.11C>T (p.Ser4Leu)
|
|
|
NM_000135.4(FANCA):c.1208C>T (p.Ala403Val)
|
|
|
NM_000135.4(FANCA):c.1216C>A (p.Leu406Met)
|
|
|
NM_000135.4(FANCA):c.121C>G (p.Gln41Glu)
|
rs764533094
|
|
NM_000135.4(FANCA):c.1226-13G>A
|
rs377159744
|
|
NM_000135.4(FANCA):c.1245G>A (p.Met415Ile)
|
rs1555561439
|
|
NM_000135.4(FANCA):c.1255T>G (p.Phe419Val)
|
rs2143526434
|
|
NM_000135.4(FANCA):c.1256T>C (p.Phe419Ser)
|
|
|
NM_000135.4(FANCA):c.1257C>G (p.Phe419Leu)
|
rs764140346
|
|
NM_000135.4(FANCA):c.1268A>G (p.Gln423Arg)
|
|
|
NM_000135.4(FANCA):c.1273G>C (p.Asp425His)
|
rs1555561398
|
|
NM_000135.4(FANCA):c.1276A>G (p.Ser426Gly)
|
rs985078327
|
|
NM_000135.4(FANCA):c.1277G>T (p.Ser426Ile)
|
|
|
NM_000135.4(FANCA):c.1281G>A (p.Met427Ile)
|
rs747322973
|
|
NM_000135.4(FANCA):c.1282G>A (p.Val428Ile)
|
rs1026686587
|
|
NM_000135.4(FANCA):c.1283T>C (p.Val428Ala)
|
|
|
NM_000135.4(FANCA):c.1285A>C (p.Thr429Pro)
|
|
|
NM_000135.4(FANCA):c.1286C>G (p.Thr429Ser)
|
|
|
NM_000135.4(FANCA):c.1286C>T (p.Thr429Ile)
|
rs1598151907
|
|
NM_000135.4(FANCA):c.1289C>G (p.Ala430Gly)
|
rs772567344
|
|
NM_000135.4(FANCA):c.1292dup (p.Leu432fs)
|
rs1416639878
|
|
NM_000135.4(FANCA):c.1298T>C (p.Val433Ala)
|
rs1015816469
|
|
NM_000135.4(FANCA):c.1300G>A (p.Val434Met)
|
|
|
NM_000135.4(FANCA):c.1304G>T (p.Arg435Leu)
|
rs1060501879
|
|
NM_000135.4(FANCA):c.1315C>A (p.Leu439Met)
|
rs1307948857
|
|
NM_000135.4(FANCA):c.1328C>G (p.Ser443Cys)
|
rs367733447
|
|
NM_000135.4(FANCA):c.1330G>A (p.Ala444Thr)
|
rs771047848
|
|
NM_000135.4(FANCA):c.1340C>G (p.Ser447Ter)
|
rs149551759
|
|
NM_000135.4(FANCA):c.1342T>C (p.Tyr448His)
|
rs1567635573
|
|
NM_000135.4(FANCA):c.1345G>A (p.Ala449Thr)
|
rs2040073158
|
|
NM_000135.4(FANCA):c.1348G>C (p.Asp450His)
|
|
|
NM_000135.4(FANCA):c.1348G>T (p.Asp450Tyr)
|
rs1262122499
|
|
NM_000135.4(FANCA):c.1349A>T (p.Asp450Val)
|
rs1213289620
|
|
NM_000135.4(FANCA):c.1351T>G (p.Trp451Gly)
|
rs2040072996
|
|
NM_000135.4(FANCA):c.1358A>G (p.Lys453Arg)
|
rs139248966
|
|
NM_000135.4(FANCA):c.1359+3A>G
|
|
|
NM_000135.4(FANCA):c.1359+4A>T
|
rs35476732
|
|
NM_000135.4(FANCA):c.1360-16_1363dup
|
rs1555556321
|
|
NM_000135.4(FANCA):c.1360-64_1360del
|
rs2143477254
|
|
NM_000135.4(FANCA):c.1364C>A (p.Ser455Tyr)
|
|
|
NM_000135.4(FANCA):c.137C>T (p.Ser46Leu)
|
rs2041098068
|
|
NM_000135.4(FANCA):c.1388A>G (p.His463Arg)
|
rs2039847321
|
|
NM_000135.4(FANCA):c.1394G>C (p.Cys465Ser)
|
rs2039847109
|
|
NM_000135.4(FANCA):c.1399A>G (p.Lys467Glu)
|
|
|
NM_000135.4(FANCA):c.139G>A (p.Ala47Thr)
|
rs1190475225
|
|
NM_000135.4(FANCA):c.139G>C (p.Ala47Pro)
|
|
|
NM_000135.4(FANCA):c.1400A>G (p.Lys467Arg)
|
rs2143476944
|
|
NM_000135.4(FANCA):c.1403A>C (p.Lys468Thr)
|
rs1598140745
|
|
NM_000135.4(FANCA):c.1403A>G (p.Lys468Arg)
|
rs1598140745
|
|
NM_000135.4(FANCA):c.1405G>T (p.Ala469Ser)
|
rs1236726652
|
|
NM_000135.4(FANCA):c.1406C>T (p.Ala469Val)
|
rs2039846606
|
|
NM_000135.4(FANCA):c.1408C>A (p.Leu470Met)
|
rs752092543
|
|
NM_000135.4(FANCA):c.1408C>G (p.Leu470Val)
|
rs752092543
|
|
NM_000135.4(FANCA):c.1418T>C (p.Leu473Pro)
|
|
|
NM_000135.4(FANCA):c.1428C>G (p.Phe476Leu)
|
|
|
NM_000135.4(FANCA):c.1438C>T (p.Leu480Phe)
|
rs1444498671
|
|
NM_000135.4(FANCA):c.1439T>G (p.Leu480Arg)
|
rs2143476647
|
|
NM_000135.4(FANCA):c.1441G>A (p.Val481Met)
|
|
|
NM_000135.4(FANCA):c.1444C>T (p.Pro482Ser)
|
|
|
NM_000135.4(FANCA):c.1454C>T (p.Ser485Phe)
|
rs760790832
|
|
NM_000135.4(FANCA):c.1456C>A (p.Pro486Thr)
|
|
|
NM_000135.4(FANCA):c.1456C>T (p.Pro486Ser)
|
|
|
NM_000135.4(FANCA):c.1459C>G (p.Arg487Gly)
|
rs143083764
|
|
NM_000135.4(FANCA):c.145C>A (p.Arg49Ser)
|
|
|
NM_000135.4(FANCA):c.145C>G (p.Arg49Gly)
|
rs929925295
|
|
NM_000135.4(FANCA):c.146G>A (p.Arg49His)
|
|
|
NM_000135.4(FANCA):c.1470+6A>G
|
|
|
NM_000135.4(FANCA):c.1470G>C (p.Gln490His)
|
rs2039844218
|
|
NM_000135.4(FANCA):c.1471-10C>G
|
rs368356709
|
|
NM_000135.4(FANCA):c.1471-738_1627-883del
|
|
|
NM_000135.4(FANCA):c.1471-7T>A
|
|
|
NM_000135.4(FANCA):c.1475A>G (p.His492Arg)
|
rs925457555
|
|
NM_000135.4(FANCA):c.1475A>T (p.His492Leu)
|
rs925457555
|
|
NM_000135.4(FANCA):c.1483C>G (p.His495Asp)
|
|
|
NM_000135.4(FANCA):c.1483C>T (p.His495Tyr)
|
|
|
NM_000135.4(FANCA):c.1492C>G (p.Leu498Val)
|
rs1486117630
|
|
NM_000135.4(FANCA):c.1498C>G (p.Pro500Ala)
|
rs776371246
|
|
NM_000135.4(FANCA):c.149T>C (p.Leu50Pro)
|
rs2143723758
|
|
NM_000135.4(FANCA):c.1501_1502insTGGTTCCCA (p.Gly501delinsValValProSer)
|
rs878853661
|
|
NM_000135.4(FANCA):c.1504A>G (p.Lys502Glu)
|
|
|
NM_000135.4(FANCA):c.1511G>A (p.Arg504His)
|
rs778045457
|
|
NM_000135.4(FANCA):c.1511G>T (p.Arg504Leu)
|
|
|
NM_000135.4(FANCA):c.1518C>T (p.Leu506=)
|
rs781524409
|
|
NM_000135.4(FANCA):c.151C>G (p.Leu51Val)
|
rs1287320584
|
|
NM_000135.4(FANCA):c.1527C>G (p.Asp509Glu)
|
rs755009951
|
|
NM_000135.4(FANCA):c.1535C>G (p.Ser512Ter)
|
rs2039774778
|
|
NM_000135.4(FANCA):c.1556C>G (p.Ala519Gly)
|
|
|
NM_000135.4(FANCA):c.1559A>C (p.Asp520Ala)
|
|
|
NM_000135.4(FANCA):c.155G>A (p.Arg52Gln)
|
|
|
NM_000135.4(FANCA):c.1560C>G (p.Asp520Glu)
|
rs1486566215
|
|
NM_000135.4(FANCA):c.1561C>T (p.Leu521Phe)
|
|
|
NM_000135.4(FANCA):c.1564A>G (p.Lys522Glu)
|
rs1555554630
|
|
NM_000135.4(FANCA):c.1566+2C>T
|
rs1316950815
|
|
NM_000135.4(FANCA):c.1566+5G>A
|
rs760087031
|
|
NM_000135.4(FANCA):c.1567G>T (p.Val523Phe)
|
|
|
NM_000135.4(FANCA):c.1568T>A (p.Val523Asp)
|
rs2039769336
|
|
NM_000135.4(FANCA):c.1570T>C (p.Ser524Pro)
|
|
|
NM_000135.4(FANCA):c.1571C>G (p.Ser524Cys)
|
rs753719658
|
|
NM_000135.4(FANCA):c.1573A>T (p.Ile525Leu)
|
rs755925068
|
|
NM_000135.4(FANCA):c.1588C>G (p.Leu530Val)
|
rs1567628801
|
|
NM_000135.4(FANCA):c.1588C>T (p.Leu530Phe)
|
rs1567628801
|
|
NM_000135.4(FANCA):c.1594G>C (p.Glu532Gln)
|
rs374490484
|
|
NM_000135.4(FANCA):c.1597G>T (p.Asp533Tyr)
|
|
|
NM_000135.4(FANCA):c.15G>C (p.Trp5Cys)
|
rs2143731999
|
|
NM_000135.4(FANCA):c.1606T>G (p.Ser536Ala)
|
|
|
NM_000135.4(FANCA):c.1607C>T (p.Ser536Leu)
|
|
|
NM_000135.4(FANCA):c.1618A>G (p.Ile540Val)
|
|
|
NM_000135.4(FANCA):c.1624G>A (p.Glu542Lys)
|
|
|
NM_000135.4(FANCA):c.1625A>T (p.Glu542Val)
|
rs587778310
|
|
NM_000135.4(FANCA):c.1626+5T>A
|
rs2143458841
|
|
NM_000135.4(FANCA):c.1626+5T>C
|
|
|
NM_000135.4(FANCA):c.1626+6G>A
|
|
|
NM_000135.4(FANCA):c.1626G>A (p.Glu542=)
|
rs2143458860
|
|
NM_000135.4(FANCA):c.1627-5A>G
|
rs2039645024
|
|
NM_000135.4(FANCA):c.1627C>T (p.Pro543Ser)
|
rs763074159
|
|
NM_000135.4(FANCA):c.1628C>T (p.Pro543Leu)
|
rs2039644737
|
|
NM_000135.4(FANCA):c.1633A>G (p.Ser545Gly)
|
|
|
NM_000135.4(FANCA):c.1634G>C (p.Ser545Thr)
|
|
|
NM_000135.4(FANCA):c.1639G>C (p.Ala547Pro)
|
rs2039644384
|
|
NM_000135.4(FANCA):c.1642C>G (p.Leu548Val)
|
|
|
NM_000135.4(FANCA):c.1642C>T (p.Leu548Phe)
|
|
|
NM_000135.4(FANCA):c.1647G>C (p.Gln549His)
|
|
|
NM_000135.4(FANCA):c.1651G>A (p.Val551Ile)
|
rs2039643856
|
|
NM_000135.4(FANCA):c.1660G>A (p.Ala554Thr)
|
rs2143432789
|
|
NM_000135.4(FANCA):c.1665C>G (p.Ile555Met)
|
|
|
NM_000135.4(FANCA):c.166G>A (p.Asp56Asn)
|
rs1360481164
|
|
NM_000135.4(FANCA):c.1679A>C (p.His560Pro)
|
rs759940726
|
|
NM_000135.4(FANCA):c.1679A>G (p.His560Arg)
|
|
|
NM_000135.4(FANCA):c.167A>C (p.Asp56Ala)
|
|
|
NM_000135.4(FANCA):c.1681A>T (p.Thr561Ser)
|
rs2143432620
|
|
NM_000135.4(FANCA):c.1682C>G (p.Thr561Arg)
|
rs148154682
|
|
NM_000135.4(FANCA):c.1682C>T (p.Thr561Met)
|
rs148154682
|
|
NM_000135.4(FANCA):c.168_173del (p.Leu57_Asn58del)
|
rs1060501881
|
|
NM_000135.4(FANCA):c.1690A>G (p.Ile564Val)
|
|
|
NM_000135.4(FANCA):c.1691T>C (p.Ile564Thr)
|
rs769842591
|
|
NM_000135.4(FANCA):c.1699A>G (p.Thr567Ala)
|
|
|
NM_000135.4(FANCA):c.16_36dup (p.Val6_Gly12dup)
|
rs1555581601
|
|
NM_000135.4(FANCA):c.1700C>G (p.Thr567Ser)
|
rs775083851
|
|
NM_000135.4(FANCA):c.1702G>C (p.Val568Leu)
|
rs778754162
|
|
NM_000135.4(FANCA):c.1705A>G (p.Met569Val)
|
|
|
NM_000135.4(FANCA):c.1709A>G (p.Glu570Gly)
|
rs2039642209
|
|
NM_000135.4(FANCA):c.1712C>T (p.Ala571Val)
|
|
|
NM_000135.4(FANCA):c.1715+4G>A
|
|
|
NM_000135.4(FANCA):c.1716-6T>C
|
rs2143424754
|
|
NM_000135.4(FANCA):c.1727G>C (p.Arg576Thr)
|
rs1047794894
|
|
NM_000135.4(FANCA):c.1733A>G (p.Tyr578Cys)
|
rs2143424595
|
|
NM_000135.4(FANCA):c.1736A>G (p.Tyr579Cys)
|
|
|
NM_000135.4(FANCA):c.1738_1742delinsCCGCCT (p.Val580fs)
|
rs2039611494
|
|
NM_000135.4(FANCA):c.1739T>G (p.Val580Gly)
|
rs2143424514
|
|
NM_000135.4(FANCA):c.1750C>G (p.Leu584Val)
|
rs145459403
|
|
NM_000135.4(FANCA):c.1753C>T (p.Pro585Ser)
|
rs2039611087
|
|
NM_000135.4(FANCA):c.1757C>T (p.Ala586Val)
|
|
|
NM_000135.4(FANCA):c.1769C>G (p.Pro590Arg)
|
rs757637315
|
|
NM_000135.4(FANCA):c.1776+17A>G
|
rs2143423790
|
|
NM_000135.4(FANCA):c.1776+5G>A
|
|
|
NM_000135.4(FANCA):c.1776+7A>G
|
rs1555552070
|
|
NM_000135.4(FANCA):c.1777-7C>A
|
|
|
NM_000135.4(FANCA):c.1780C>T (p.Pro594Ser)
|
rs2039605850
|
|
NM_000135.4(FANCA):c.1786G>A (p.Val596Ile)
|
rs1391415619
|
|
NM_000135.4(FANCA):c.1789C>T (p.Pro597Ser)
|
|
|
NM_000135.4(FANCA):c.1794C>G (p.Asp598Glu)
|
rs2143422796
|
|
NM_000135.4(FANCA):c.1795del (p.Ser599fs)
|
rs2143422776
|
|
NM_000135.4(FANCA):c.1796C>G (p.Ser599Cys)
|
rs562319781
|
|
NM_000135.4(FANCA):c.1796C>T (p.Ser599Phe)
|
rs562319781
|
|
NM_000135.4(FANCA):c.1799G>C (p.Arg600Pro)
|
rs775917892
|
|
NM_000135.4(FANCA):c.17T>G (p.Val6Gly)
|
rs1800282
|
|
NM_000135.4(FANCA):c.1804G>T (p.Ala602Ser)
|
|
|
NM_000135.4(FANCA):c.1805C>G (p.Ala602Gly)
|
rs374968669
|
|
NM_000135.4(FANCA):c.1805C>T (p.Ala602Val)
|
rs374968669
|
|
NM_000135.4(FANCA):c.1809_1811dup (p.Ile604dup)
|
rs2039604604
|
|
NM_000135.4(FANCA):c.1810A>G (p.Ile604Val)
|
rs2039604673
|
|
NM_000135.4(FANCA):c.1814_1815del (p.Glu605fs)
|
rs759899153
|
|
NM_000135.4(FANCA):c.1816T>G (p.Ser606Ala)
|
rs770164503
|
|
NM_000135.4(FANCA):c.1826+3A>G
|
rs925559826
|
|
NM_000135.4(FANCA):c.1826+4T>A
|
rs979666807
|
|
NM_000135.4(FANCA):c.1826+4T>G
|
rs979666807
|
|
NM_000135.4(FANCA):c.1826+5G>A
|
|
|
NM_000135.4(FANCA):c.1826+6C>T
|
rs748528553
|
|
NM_000135.4(FANCA):c.1827-3C>G
|
rs772236777
|
|
NM_000135.4(FANCA):c.1829C>T (p.Ala610Val)
|
rs1598120974
|
|
NM_000135.4(FANCA):c.182T>G (p.Leu61Trp)
|
|
|
NM_000135.4(FANCA):c.1834A>G (p.Lys612Glu)
|
rs1433333223
|
|
NM_000135.4(FANCA):c.1840C>T (p.Pro614Ser)
|
|
|
NM_000135.4(FANCA):c.1843C>T (p.Pro615Ser)
|
rs1567623107
|
|
NM_000135.4(FANCA):c.1844C>T (p.Pro615Leu)
|
|
|
NM_000135.4(FANCA):c.1847C>T (p.Ser616Phe)
|
|
|
NM_000135.4(FANCA):c.1849C>G (p.Leu617Val)
|
|
|
NM_000135.4(FANCA):c.184C>G (p.Leu62Val)
|
rs2041094921
|
|
NM_000135.4(FANCA):c.1856C>A (p.Ser619Tyr)
|
rs2039480405
|
|
NM_000135.4(FANCA):c.1868A>G (p.Gln623Arg)
|
|
|
NM_000135.4(FANCA):c.186T>A (p.Leu62=)
|
rs1555580352
|
|
NM_000135.4(FANCA):c.1870G>T (p.Ala624Ser)
|
rs1403464170
|
|
NM_000135.4(FANCA):c.1871C>T (p.Ala624Val)
|
rs146491000
|
|
NM_000135.4(FANCA):c.1874G>A (p.Cys625Tyr)
|
rs139235751
|
|
NM_000135.4(FANCA):c.1876T>C (p.Ser626Pro)
|
|
|
NM_000135.4(FANCA):c.1877C>T (p.Ser626Phe)
|
rs769311485
|
|
NM_000135.4(FANCA):c.1879G>C (p.Ala627Pro)
|
|
|
NM_000135.4(FANCA):c.188A>C (p.Glu63Ala)
|
rs1567659053
|
|
NM_000135.4(FANCA):c.189+2T>A
|
rs2041094594
|
|
NM_000135.4(FANCA):c.189+3A>G
|
|
|
NM_000135.4(FANCA):c.189+3A>T
|
rs2143723295
|
|
NM_000135.4(FANCA):c.1890G>C (p.Glu630Asp)
|
|
|
NM_000135.4(FANCA):c.1891A>G (p.Lys631Glu)
|
|
|
NM_000135.4(FANCA):c.18C>G (p.Val6=)
|
rs916719756
|
|
NM_000135.4(FANCA):c.1900+6T>C
|
|
|
NM_000135.4(FANCA):c.1901-3C>A
|
rs17226526
|
|
NM_000135.4(FANCA):c.1901-3C>T
|
|
|
NM_000135.4(FANCA):c.1901-9T>G
|
rs886052486
|
|
NM_000135.4(FANCA):c.1903G>A (p.Ala635Thr)
|
|
|
NM_000135.4(FANCA):c.1904C>A (p.Ala635Glu)
|
rs142217479
|
|
NM_000135.4(FANCA):c.1907C>T (p.Ala636Val)
|
rs2143367748
|
|
NM_000135.4(FANCA):c.1913G>A (p.Gly638Glu)
|
|
|
NM_000135.4(FANCA):c.1921G>A (p.Ala641Thr)
|
rs867961005
|
|
NM_000135.4(FANCA):c.1926A>C (p.Glu642Asp)
|
|
|
NM_000135.4(FANCA):c.1931A>G (p.Asn644Ser)
|
rs924548467
|
|
NM_000135.4(FANCA):c.1932C>G (p.Asn644Lys)
|
rs1598116392
|
|
NM_000135.4(FANCA):c.1934C>G (p.Ser645Cys)
|
|
|
NM_000135.4(FANCA):c.1940A>G (p.Glu647Gly)
|
rs1374330952
|
|
NM_000135.4(FANCA):c.1942G>A (p.Glu648Lys)
|
rs1427276212
|
|
NM_000135.4(FANCA):c.1945C>T (p.Pro649Ser)
|
|
|
NM_000135.4(FANCA):c.1949T>A (p.Leu650Gln)
|
|
|
NM_000135.4(FANCA):c.195A>C (p.Glu65Asp)
|
rs2041029016
|
|
NM_000135.4(FANCA):c.1960A>G (p.Thr654Ala)
|
rs1555549412
|
|
NM_000135.4(FANCA):c.1960A>T (p.Thr654Ser)
|
|
|
NM_000135.4(FANCA):c.1966G>A (p.Ala656Thr)
|
|
|
NM_000135.4(FANCA):c.196G>T (p.Gly66Cys)
|
|
|
NM_000135.4(FANCA):c.197G>A (p.Gly66Asp)
|
|
|
NM_000135.4(FANCA):c.1985C>T (p.Ala662Val)
|
|
|
NM_000135.4(FANCA):c.1991T>G (p.Met664Arg)
|
|
|
NM_000135.4(FANCA):c.1999C>G (p.Pro667Ala)
|
rs147300317
|
|
NM_000135.4(FANCA):c.1999C>T (p.Pro667Ser)
|
rs147300317
|
|
NM_000135.4(FANCA):c.19C>A (p.Pro7Thr)
|
|
|
NM_000135.4(FANCA):c.19C>G (p.Pro7Ala)
|
rs780667753
|
|
NM_000135.4(FANCA):c.19C>T (p.Pro7Ser)
|
rs780667753
|
|
NM_000135.4(FANCA):c.2000C>A (p.Pro667His)
|
rs755293596
|
|
NM_000135.4(FANCA):c.2000C>G (p.Pro667Arg)
|
|
|
NM_000135.4(FANCA):c.2000C>T (p.Pro667Leu)
|
rs755293596
|
|
NM_000135.4(FANCA):c.2003G>T (p.Ser668Ile)
|
|
|
NM_000135.4(FANCA):c.2012A>T (p.Asp671Val)
|
|
|
NM_000135.4(FANCA):c.2014+10G>T
|
rs1567620967
|
|
NM_000135.4(FANCA):c.2014+5G>A
|
|
|
NM_000135.4(FANCA):c.2015-4G>T
|
rs373954227
|
|
NM_000135.4(FANCA):c.2015-8del
|
rs1567619964
|
|
NM_000135.4(FANCA):c.2019A>G (p.Ile673Met)
|
|
|
NM_000135.4(FANCA):c.2023G>A (p.Ala675Thr)
|
rs752701423
|
|
NM_000135.4(FANCA):c.2023G>C (p.Ala675Pro)
|
rs752701423
|
|
NM_000135.4(FANCA):c.2024C>T (p.Ala675Val)
|
rs986889143
|
|
NM_000135.4(FANCA):c.2028G>C (p.Gln676His)
|
rs2039336156
|
|
NM_000135.4(FANCA):c.203T>G (p.Leu68Arg)
|
|
|
NM_000135.4(FANCA):c.2050C>A (p.Leu684Met)
|
|
|
NM_000135.4(FANCA):c.2050C>G (p.Leu684Val)
|
rs1284083461
|
|
NM_000135.4(FANCA):c.2059G>A (p.Val687Ile)
|
|
|
NM_000135.4(FANCA):c.2060T>C (p.Val687Ala)
|
|
|
NM_000135.4(FANCA):c.2072A>T (p.Asn691Ile)
|
|
|
NM_000135.4(FANCA):c.2087G>A (p.Ser696Asn)
|
|
|
NM_000135.4(FANCA):c.2087G>T (p.Ser696Ile)
|
|
|
NM_000135.4(FANCA):c.2089G>C (p.Val697Leu)
|
rs376888740
|
|
NM_000135.4(FANCA):c.2090T>A (p.Val697Asp)
|
rs777863668
|
|
NM_000135.4(FANCA):c.2093A>C (p.Glu698Ala)
|
rs2143350667
|
|
NM_000135.4(FANCA):c.2095A>T (p.Ile699Leu)
|
|
|
NM_000135.4(FANCA):c.2096T>C (p.Ile699Thr)
|
rs752652496
|
|
NM_000135.4(FANCA):c.2098T>A (p.Ser700Thr)
|
rs767631694
|
|
NM_000135.4(FANCA):c.2098T>C (p.Ser700Pro)
|
rs767631694
|
|
NM_000135.4(FANCA):c.2099C>T (p.Ser700Leu)
|
|
|
NM_000135.4(FANCA):c.20C>A (p.Pro7Gln)
|
rs772712346
|
|
NM_000135.4(FANCA):c.20C>G (p.Pro7Arg)
|
rs772712346
|
|
NM_000135.4(FANCA):c.2110C>G (p.Leu704Val)
|
rs1555548507
|
|
NM_000135.4(FANCA):c.2118C>G (p.Ile706Met)
|
|
|
NM_000135.4(FANCA):c.2119A>G (p.Asn707Asp)
|
|
|
NM_000135.4(FANCA):c.2126C>G (p.Pro709Arg)
|
|
|
NM_000135.4(FANCA):c.2129G>T (p.Arg710Ile)
|
rs2039331440
|
|
NM_000135.4(FANCA):c.2130A>T (p.Arg710Ser)
|
rs2143350061
|
|
NM_000135.4(FANCA):c.2132T>C (p.Leu711Pro)
|
rs2039331306
|
|
NM_000135.4(FANCA):c.2134G>A (p.Glu712Lys)
|
rs774565293
|
|
NM_000135.4(FANCA):c.213A>C (p.Lys71Asn)
|
|
|
NM_000135.4(FANCA):c.213A>T (p.Lys71Asn)
|
rs2041027459
|
|
NM_000135.4(FANCA):c.2140C>G (p.Arg714Gly)
|
rs200284845
|
|
NM_000135.4(FANCA):c.2140C>T (p.Arg714Trp)
|
|
|
NM_000135.4(FANCA):c.2143G>A (p.Glu715Lys)
|
|
|
NM_000135.4(FANCA):c.2144A>T (p.Glu715Val)
|
rs2039330928
|
|
NM_000135.4(FANCA):c.2146C>T (p.His716Tyr)
|
|
|
NM_000135.4(FANCA):c.2151+12G>T
|
|
|
NM_000135.4(FANCA):c.2151+4G>A
|
rs1598113342
|
|
NM_000135.4(FANCA):c.2151+4G>C
|
|
|
NM_000135.4(FANCA):c.2151+7_2151+8delinsTC
|
|
|
NM_000135.4(FANCA):c.2151G>A (p.Met717Ile)
|
rs1131660
|
|
NM_000135.4(FANCA):c.2152-6_2152-5del
|
|
|
NM_000135.4(FANCA):c.2162T>G (p.Leu721Arg)
|
|
|
NM_000135.4(FANCA):c.2164C>G (p.Leu722Val)
|
rs770314137
|
|
NM_000135.4(FANCA):c.2174C>G (p.Ser725Cys)
|
|
|
NM_000135.4(FANCA):c.2175_2182del (p.Phe726fs)
|
rs1555547935
|
|
NM_000135.4(FANCA):c.2178C>G (p.Phe726Leu)
|
rs1163885123
|
|
NM_000135.4(FANCA):c.2187C>A (p.Asn729Lys)
|
|
|
NM_000135.4(FANCA):c.218C>T (p.Ser73Phe)
|
|
|
NM_000135.4(FANCA):c.2197G>A (p.Ala733Thr)
|
|
|
NM_000135.4(FANCA):c.2204G>A (p.Ser735Asn)
|
|
|
NM_000135.4(FANCA):c.2204G>T (p.Ser735Ile)
|
|
|
NM_000135.4(FANCA):c.2212C>A (p.Pro738Thr)
|
rs751015814
|
|
NM_000135.4(FANCA):c.2212C>G (p.Pro738Ala)
|
rs751015814
|
|
NM_000135.4(FANCA):c.2213C>A (p.Pro738His)
|
rs762333391
|
|
NM_000135.4(FANCA):c.2216C>G (p.Pro739Arg)
|
rs45441106
|
|
NM_000135.4(FANCA):c.2222+4A>G
|
|
|
NM_000135.4(FANCA):c.2222+5A>G
|
|
|
NM_000135.4(FANCA):c.2222+5A>T
|
|
|
NM_000135.4(FANCA):c.2223-3C>T
|
rs2039278966
|
|
NM_000135.4(FANCA):c.2223-4G>T
|
|
|
NM_000135.4(FANCA):c.2223-6C>G
|
rs759682612
|
|
NM_000135.4(FANCA):c.2223-8C>G
|
rs1598110961
|
|
NM_000135.4(FANCA):c.2223-8C>T
|
rs1598110961
|
|
NM_000135.4(FANCA):c.2227G>A (p.Gly743Ser)
|
|
|
NM_000135.4(FANCA):c.2239G>A (p.Ala747Thr)
|
rs931143821
|
|
NM_000135.4(FANCA):c.2248G>A (p.Val750Met)
|
rs747723074
|
|
NM_000135.4(FANCA):c.2248G>C (p.Val750Leu)
|
rs747723074
|
|
NM_000135.4(FANCA):c.2257A>G (p.Met753Val)
|
rs757797015
|
|
NM_000135.4(FANCA):c.2267G>C (p.Arg756Pro)
|
rs137913973
|
|
NM_000135.4(FANCA):c.226A>G (p.Lys76Glu)
|
rs2143711335
|
|
NM_000135.4(FANCA):c.2275C>T (p.Pro759Ser)
|
|
|
NM_000135.4(FANCA):c.2284C>A (p.Leu762Ile)
|
|
|
NM_000135.4(FANCA):c.2284C>T (p.Leu762Phe)
|
|
|
NM_000135.4(FANCA):c.2285T>C (p.Leu762Pro)
|
|
|
NM_000135.4(FANCA):c.2288C>T (p.Thr763Ile)
|
|
|
NM_000135.4(FANCA):c.2305C>T (p.Leu769Phe)
|
rs917707717
|
|
NM_000135.4(FANCA):c.2316+1_2316+3del
|
rs2039275264
|
|
NM_000135.4(FANCA):c.2316+6G>T
|
rs1399631313
|
|
NM_000135.4(FANCA):c.2316+9C>T
|
rs776301232
|
|
NM_000135.4(FANCA):c.2318G>A (p.Gly773Asp)
|
rs2143333930
|
|
NM_000135.4(FANCA):c.2320C>T (p.Pro774Ser)
|
|
|
NM_000135.4(FANCA):c.2324G>C (p.Ser775Thr)
|
rs2039267533
|
|
NM_000135.4(FANCA):c.2325C>G (p.Ser775Arg)
|
rs545765795
|
|
NM_000135.4(FANCA):c.2332G>A (p.Ala778Thr)
|
rs1242381795
|
|
NM_000135.4(FANCA):c.2341G>A (p.Val781Met)
|
rs1246628258
|
|
NM_000135.4(FANCA):c.2341G>T (p.Val781Leu)
|
rs1246628258
|
|
NM_000135.4(FANCA):c.2345T>G (p.Leu782Arg)
|
rs747315724
|
|
NM_000135.4(FANCA):c.2356G>T (p.Ala786Ser)
|
|
|
NM_000135.4(FANCA):c.2365G>A (p.Val789Met)
|
rs771698195
|
|
NM_000135.4(FANCA):c.2368C>G (p.His790Asp)
|
rs2039266002
|
|
NM_000135.4(FANCA):c.2368C>T (p.His790Tyr)
|
|
|
NM_000135.4(FANCA):c.2371C>G (p.Leu791Val)
|
|
|
NM_000135.4(FANCA):c.2395C>G (p.Pro799Ala)
|
rs762439008
|
|
NM_000135.4(FANCA):c.2399A>G (p.Glu800Gly)
|
rs2039264657
|
|
NM_000135.4(FANCA):c.2399A>T (p.Glu800Val)
|
rs2039264657
|
|
NM_000135.4(FANCA):c.239G>A (p.Cys80Tyr)
|
rs1043175440
|
|
NM_000135.4(FANCA):c.23A>T (p.Asn8Ile)
|
rs757468756
|
|
NM_000135.4(FANCA):c.2402T>A (p.Val801Glu)
|
rs772721300
|
|
NM_000135.4(FANCA):c.2414C>T (p.Pro805Leu)
|
rs1303230442
|
|
NM_000135.4(FANCA):c.2416C>T (p.Pro806Ser)
|
|
|
NM_000135.4(FANCA):c.2422C>G (p.Pro808Ala)
|
rs772367440
|
|
NM_000135.4(FANCA):c.2426G>T (p.Gly809Val)
|
|
|
NM_000135.4(FANCA):c.2428G>T (p.Ala810Ser)
|
rs1263882781
|
|
NM_000135.4(FANCA):c.2429C>G (p.Ala810Gly)
|
rs1486995764
|
|
NM_000135.4(FANCA):c.2432G>A (p.Gly811Asp)
|
rs201152989
|
|
NM_000135.4(FANCA):c.2432G>C (p.Gly811Ala)
|
|
|
NM_000135.4(FANCA):c.2443C>T (p.Pro815Ser)
|
|
|
NM_000135.4(FANCA):c.2444C>G (p.Pro815Arg)
|
rs778009295
|
|
NM_000135.4(FANCA):c.2444C>T (p.Pro815Leu)
|
|
|
NM_000135.4(FANCA):c.2447C>A (p.Ala816Glu)
|
|
|
NM_000135.4(FANCA):c.2449C>G (p.Leu817Val)
|
|
|
NM_000135.4(FANCA):c.2455G>C (p.Asp819His)
|
|
|
NM_000135.4(FANCA):c.245G>A (p.Ser82Asn)
|
|
|
NM_000135.4(FANCA):c.245G>C (p.Ser82Thr)
|
rs1459045387
|
|
NM_000135.4(FANCA):c.2477C>T (p.Thr826Met)
|
rs765888048
|
|
NM_000135.4(FANCA):c.2490G>T (p.Leu830Phe)
|
rs2039261142
|
|
NM_000135.4(FANCA):c.2492TCT[1] (p.Phe832del)
|
rs1310756192
|
|
NM_000135.4(FANCA):c.24C>A (p.Asn8Lys)
|
|
|
NM_000135.4(FANCA):c.24_25delinsGG (p.Asn8_Ser9delinsLysAla)
|
|
|
NM_000135.4(FANCA):c.2504+1G>A
|
rs2039260545
|
|
NM_000135.4(FANCA):c.2504+3G>A
|
rs2039260426
|
|
NM_000135.4(FANCA):c.2504+5G>T
|
rs2039260372
|
|
NM_000135.4(FANCA):c.2505A>G (p.Lys835=)
|
rs1555546563
|
|
NM_000135.4(FANCA):c.2509_2604del (p.Cys837_Phe868del)
|
rs2143307773
|
|
NM_000135.4(FANCA):c.2516C>G (p.Ala839Gly)
|
|
|
NM_000135.4(FANCA):c.2519C>G (p.Ala840Gly)
|
rs587778313
|
|
NM_000135.4(FANCA):c.2521A>G (p.Ile841Val)
|
|
|
NM_000135.4(FANCA):c.2525C>G (p.Ser842Cys)
|
|
|
NM_000135.4(FANCA):c.2528A>G (p.Tyr843Cys)
|
rs1567616244
|
|
NM_000135.4(FANCA):c.2531C>G (p.Ser844Cys)
|
|
|
NM_000135.4(FANCA):c.253G>A (p.Ala85Thr)
|
rs2143711037
|
|
NM_000135.4(FANCA):c.2540A>C (p.Lys847Thr)
|
|
|
NM_000135.4(FANCA):c.2549C>A (p.Ser850Tyr)
|
|
|
NM_000135.4(FANCA):c.254C>G (p.Ala85Gly)
|
|
|
NM_000135.4(FANCA):c.2558G>A (p.Arg853Gln)
|
rs753393669
|
|
NM_000135.4(FANCA):c.2559_2564del (p.Asp854_Thr855del)
|
rs2143308232
|
|
NM_000135.4(FANCA):c.257A>G (p.Tyr86Cys)
|
|
|
NM_000135.4(FANCA):c.2584C>G (p.Pro862Ala)
|
|
|
NM_000135.4(FANCA):c.2587G>A (p.Gly863Ser)
|
rs2039157272
|
|
NM_000135.4(FANCA):c.2593A>G (p.Ile865Val)
|
rs878853662
|
|
NM_000135.4(FANCA):c.259G>C (p.Ala87Pro)
|
|
|
NM_000135.4(FANCA):c.25_26delinsCT (p.Ser9Leu)
|
rs2143731757
|
|
NM_000135.4(FANCA):c.2601+5G>T
|
|
|
NM_000135.4(FANCA):c.2601G>A (p.Lys867=)
|
rs746889340
|
|
NM_000135.4(FANCA):c.2601G>C (p.Lys867Asn)
|
rs746889340
|
|
NM_000135.4(FANCA):c.2601G>T (p.Lys867Asn)
|
rs746889340
|
|
NM_000135.4(FANCA):c.2602-12T>A
|
|
|
NM_000135.4(FANCA):c.2602-13CT[2]
|
rs577636020
|
|
NM_000135.4(FANCA):c.2602-14A>C
|
rs886052483
|
|
NM_000135.4(FANCA):c.2602-2A>G
|
rs1555545592
|
|
NM_000135.4(FANCA):c.2602-3C>G
|
rs2143289922
|
|
NM_000135.4(FANCA):c.2602T>G (p.Phe868Val)
|
rs1555545588
|
|
NM_000135.4(FANCA):c.2607G>C (p.Gln869His)
|
rs1555545583
|
|
NM_000135.4(FANCA):c.2614A>G (p.Met872Val)
|
|
|
NM_000135.4(FANCA):c.2620A>G (p.Arg874Gly)
|
|
|
NM_000135.4(FANCA):c.2628C>G (p.Phe876Leu)
|
|
|
NM_000135.4(FANCA):c.2629T>A (p.Ser877Thr)
|
|
|
NM_000135.4(FANCA):c.2629T>C (p.Ser877Pro)
|
rs1322274178
|
|
NM_000135.4(FANCA):c.262A>T (p.Asn88Tyr)
|
rs913466405
|
|
NM_000135.4(FANCA):c.2632G>A (p.Glu878Lys)
|
|
|
NM_000135.4(FANCA):c.2632_2633delinsCG (p.Glu878Arg)
|
rs2039079300
|
|
NM_000135.4(FANCA):c.2639G>T (p.Arg880Leu)
|
|
|
NM_000135.4(FANCA):c.2644C>A (p.Pro882Thr)
|
|
|
NM_000135.4(FANCA):c.2644C>T (p.Pro882Ser)
|
rs1938055960
|
|
NM_000135.4(FANCA):c.2647C>G (p.Leu883Val)
|
|
|
NM_000135.4(FANCA):c.2650T>C (p.Ser884Pro)
|
|
|
NM_000135.4(FANCA):c.2660A>G (p.Asp887Gly)
|
rs1222220230
|
|
NM_000135.4(FANCA):c.2662G>C (p.Val888Leu)
|
rs774863156
|
|
NM_000135.4(FANCA):c.2669G>T (p.Ser890Ile)
|
rs1055448646
|
|
NM_000135.4(FANCA):c.2671C>T (p.Leu891Phe)
|
|
|
NM_000135.4(FANCA):c.2674T>A (p.Ser892Thr)
|
|
|
NM_000135.4(FANCA):c.2683C>G (p.Pro895Ala)
|
rs755207440
|
|
NM_000135.4(FANCA):c.2684C>A (p.Pro895His)
|
rs1234246540
|
|
NM_000135.4(FANCA):c.2687T>G (p.Leu896Trp)
|
rs2143288811
|
|
NM_000135.4(FANCA):c.2688G>T (p.Leu896Phe)
|
rs142393744
|
|
NM_000135.4(FANCA):c.2689C>T (p.His897Tyr)
|
rs766402927
|
|
NM_000135.4(FANCA):c.2692C>G (p.Leu898Val)
|
|
|
NM_000135.4(FANCA):c.269C>G (p.Ser90Cys)
|
|
|
NM_000135.4(FANCA):c.26C>A (p.Ser9Tyr)
|
rs752776388
|
|
NM_000135.4(FANCA):c.26C>G (p.Ser9Cys)
|
rs752776388
|
|
NM_000135.4(FANCA):c.26C>T (p.Ser9Phe)
|
rs752776388
|
|
NM_000135.4(FANCA):c.2711A>G (p.Gln904Arg)
|
rs776576487
|
|
NM_000135.4(FANCA):c.2712G>C (p.Gln904His)
|
|
|
NM_000135.4(FANCA):c.2720C>T (p.Ala907Val)
|
|
|
NM_000135.4(FANCA):c.2728C>A (p.Leu910Ile)
|
rs1216426444
|
|
NM_000135.4(FANCA):c.2728C>G (p.Leu910Val)
|
rs1216426444
|
|
NM_000135.4(FANCA):c.2729T>C (p.Leu910Pro)
|
|
|
NM_000135.4(FANCA):c.2734A>C (p.Thr912Pro)
|
rs1220495259
|
|
NM_000135.4(FANCA):c.2735C>A (p.Thr912Lys)
|
rs376302719
|
|
NM_000135.4(FANCA):c.2741G>T (p.Arg914Ile)
|
|
|
NM_000135.4(FANCA):c.2752G>C (p.Glu918Gln)
|
|
|
NM_000135.4(FANCA):c.2755G>A (p.Val919Met)
|
rs150330232
|
|
NM_000135.4(FANCA):c.2756T>C (p.Val919Ala)
|
rs202131468
|
|
NM_000135.4(FANCA):c.275C>T (p.Ser92Leu)
|
|
|
NM_000135.4(FANCA):c.2760G>C (p.Leu920Phe)
|
|
|
NM_000135.4(FANCA):c.2765A>C (p.Glu922Ala)
|
rs899634878
|
|
NM_000135.4(FANCA):c.2768A>T (p.Glu923Val)
|
|
|
NM_000135.4(FANCA):c.2778+3A>G
|
rs757261567
|
|
NM_000135.4(FANCA):c.2778+83C>G
|
rs750997715
|
|
NM_000135.4(FANCA):c.2778C>T (p.His926=)
|
|
|
NM_000135.4(FANCA):c.2779-16_2779-15delinsCG
|
|
|
NM_000135.4(FANCA):c.2779-3C>T
|
|
|
NM_000135.4(FANCA):c.2783C>A (p.Thr928Asn)
|
rs2143261377
|
|
NM_000135.4(FANCA):c.2785T>C (p.Tyr929His)
|
rs1567612427
|
|
NM_000135.4(FANCA):c.2786A>C (p.Tyr929Ser)
|
rs2038969615
|
|
NM_000135.4(FANCA):c.2791G>C (p.Asp931His)
|
|
|
NM_000135.4(FANCA):c.2809C>G (p.Leu937Val)
|
|
|
NM_000135.4(FANCA):c.280A>G (p.Ile94Val)
|
|
|
NM_000135.4(FANCA):c.2812G>C (p.Glu938Gln)
|
rs376106733
|
|
NM_000135.4(FANCA):c.2815A>G (p.Ile939Val)
|
rs1598096962
|
|
NM_000135.4(FANCA):c.2820A>C (p.Gln940His)
|
|
|
NM_000135.4(FANCA):c.2821C>A (p.Pro941Thr)
|
rs2038968162
|
|
NM_000135.4(FANCA):c.2822C>A (p.Pro941His)
|
|
|
NM_000135.4(FANCA):c.2826A>C (p.Glu942Asp)
|
rs1217883878
|
|
NM_000135.4(FANCA):c.2828C>T (p.Ala943Val)
|
|
|
NM_000135.4(FANCA):c.283+5G>A
|
rs1598199184
|
|
NM_000135.4(FANCA):c.2830G>A (p.Asp944Asn)
|
|
|
NM_000135.4(FANCA):c.2830G>T (p.Asp944Tyr)
|
|
|
NM_000135.4(FANCA):c.2834C>T (p.Ala945Val)
|
rs1221107443
|
|
NM_000135.4(FANCA):c.2836C>G (p.Leu946Val)
|
|
|
NM_000135.4(FANCA):c.2836C>T (p.Leu946Phe)
|
|
|
NM_000135.4(FANCA):c.284-9G>C
|
rs367672895
|
|
NM_000135.4(FANCA):c.2843A>C (p.Asp948Ala)
|
|
|
NM_000135.4(FANCA):c.2843A>T (p.Asp948Val)
|
rs193172749
|
|
NM_000135.4(FANCA):c.2846C>T (p.Thr949Ile)
|
rs2038967398
|
|
NM_000135.4(FANCA):c.2852+12A>T
|
rs2038966561
|
|
NM_000135.4(FANCA):c.2852+3A>G
|
rs2038966938
|
|
NM_000135.4(FANCA):c.2853-8T>C
|
rs2038845082
|
|
NM_000135.4(FANCA):c.2855A>C (p.Gln952Pro)
|
rs2143225876
|
|
NM_000135.4(FANCA):c.2858A>C (p.Asp953Ala)
|
|
|
NM_000135.4(FANCA):c.2859C>A (p.Asp953Glu)
|
rs149112292
|
|
NM_000135.4(FANCA):c.2860T>A (p.Phe954Ile)
|
|
|
NM_000135.4(FANCA):c.2862C>G (p.Phe954Leu)
|
rs2038844439
|
|
NM_000135.4(FANCA):c.2872del (p.Ala958fs)
|
rs2038844082
|
|
NM_000135.4(FANCA):c.2877C>G (p.Ile959Met)
|
|
|
NM_000135.4(FANCA):c.2878C>G (p.His960Asp)
|
|
|
NM_000135.4(FANCA):c.2878C>T (p.His960Tyr)
|
rs923046981
|
|
NM_000135.4(FANCA):c.2880T>A (p.His960Gln)
|
rs2038843708
|
|
NM_000135.4(FANCA):c.2882A>C (p.Glu961Ala)
|
|
|
NM_000135.4(FANCA):c.2885A>T (p.His962Leu)
|
|
|
NM_000135.4(FANCA):c.2893C>G (p.Pro965Ala)
|
|
|
NM_000135.4(FANCA):c.2896G>A (p.Glu966Lys)
|
rs1192724266
|
|
NM_000135.4(FANCA):c.2904G>A (p.Ser968=)
|
rs568354015
|
|
NM_000135.4(FANCA):c.2908T>C (p.Ser970Pro)
|
|
|
NM_000135.4(FANCA):c.2912G>C (p.Gly971Ala)
|
|
|
NM_000135.4(FANCA):c.2914G>A (p.Gly972Ser)
|
rs764155334
|
|
NM_000135.4(FANCA):c.2914G>T (p.Gly972Cys)
|
|
|
NM_000135.4(FANCA):c.2922C>A (p.Asp974Glu)
|
rs756241886
|
|
NM_000135.4(FANCA):c.2936C>G (p.Ala979Gly)
|
|
|
NM_000135.4(FANCA):c.2938G>C (p.Ala980Pro)
|
rs2038841366
|
|
NM_000135.4(FANCA):c.2942G>C (p.Cys981Ser)
|
rs1555542910
|
|
NM_000135.4(FANCA):c.2945C>G (p.Thr982Ser)
|
rs772577909
|
|
NM_000135.4(FANCA):c.2959G>C (p.Ala987Pro)
|
rs752735858
|
|
NM_000135.4(FANCA):c.2959G>T (p.Ala987Ser)
|
rs752735858
|
|
NM_000135.4(FANCA):c.2960C>T (p.Ala987Val)
|
|
|
NM_000135.4(FANCA):c.2976C>G (p.His992Gln)
|
rs527882851
|
|
NM_000135.4(FANCA):c.2981+3T>A
|
|
|
NM_000135.4(FANCA):c.2981+3T>C
|
rs2038838887
|
|
NM_000135.4(FANCA):c.2982C>G (p.Ser994Arg)
|
rs1555540072
|
|
NM_000135.4(FANCA):c.2989A>T (p.Ser997Cys)
|
rs2038619848
|
|
NM_000135.4(FANCA):c.298G>C (p.Asp100His)
|
|
|
NM_000135.4(FANCA):c.2994T>G (p.Tyr998Ter)
|
|
|
NM_000135.4(FANCA):c.2995G>C (p.Asp999His)
|
rs1277218406
|
|
NM_000135.4(FANCA):c.2996A>G (p.Asp999Gly)
|
rs2143164062
|
|
NM_000135.4(FANCA):c.3018G>T (p.Leu1006Phe)
|
rs1439833580
|
|
NM_000135.4(FANCA):c.3026G>T (p.Gly1009Val)
|
|
|
NM_000135.4(FANCA):c.3029G>T (p.Gly1010Val)
|
rs767105291
|
|
NM_000135.4(FANCA):c.3043G>A (p.Glu1015Lys)
|
rs1443921504
|
|
NM_000135.4(FANCA):c.3045G>C (p.Glu1015Asp)
|
rs147661788
|
|
NM_000135.4(FANCA):c.3046G>A (p.Asp1016Asn)
|
|
|
NM_000135.4(FANCA):c.3056C>A (p.Ser1019Tyr)
|
rs762111755
|
|
NM_000135.4(FANCA):c.3056C>G (p.Ser1019Cys)
|
rs762111755
|
|
NM_000135.4(FANCA):c.3059G>C (p.Arg1020Thr)
|
rs777061373
|
|
NM_000135.4(FANCA):c.3062T>G (p.Leu1021Trp)
|
rs891626452
|
|
NM_000135.4(FANCA):c.3066+13_3066+75del
|
|
|
NM_000135.4(FANCA):c.3066+3_3066+9delinsCC
|
rs2038616017
|
|
NM_000135.4(FANCA):c.3066G>C (p.Gln1022His)
|
|
|
NM_000135.4(FANCA):c.3067-10T>A
|
|
|
NM_000135.4(FANCA):c.3067-3C>T
|
|
|
NM_000135.4(FANCA):c.3068A>G (p.Glu1023Gly)
|
|
|
NM_000135.4(FANCA):c.3073G>T (p.Val1025Leu)
|
|
|
NM_000135.4(FANCA):c.3100C>G (p.Leu1034Val)
|
|
|
NM_000135.4(FANCA):c.3109C>G (p.Pro1037Ala)
|
rs771174892
|
|
NM_000135.4(FANCA):c.3116G>A (p.Gly1039Asp)
|
rs1292002479
|
|
NM_000135.4(FANCA):c.311G>A (p.Arg104Lys)
|
rs1057245679
|
|
NM_000135.4(FANCA):c.3121A>T (p.Thr1041Ser)
|
rs769635187
|
|
NM_000135.4(FANCA):c.3124C>T (p.Pro1042Ser)
|
rs1355177352
|
|
NM_000135.4(FANCA):c.3128C>T (p.Ser1043Phe)
|
rs964766722
|
|
NM_000135.4(FANCA):c.3134A>C (p.Glu1045Ala)
|
rs2143139368
|
|
NM_000135.4(FANCA):c.3141_3146del (p.Leu1048_Phe1049del)
|
rs2038519209
|
|
NM_000135.4(FANCA):c.3142C>G (p.Leu1048Val)
|
rs2143139226
|
|
NM_000135.4(FANCA):c.3142_3147del (p.Leu1048_Phe1049del)
|
rs2143139177
|
|
NM_000135.4(FANCA):c.3142dup (p.Leu1048fs)
|
rs1405317971
|
|
NM_000135.4(FANCA):c.3149A>C (p.Glu1050Ala)
|
rs954683462
|
|
NM_000135.4(FANCA):c.3150G>C (p.Glu1050Asp)
|
rs2143139115
|
|
NM_000135.4(FANCA):c.3154T>C (p.Phe1052Leu)
|
|
|
NM_000135.4(FANCA):c.3155T>C (p.Phe1052Ser)
|
|
|
NM_000135.4(FANCA):c.3158G>A (p.Arg1053His)
|
rs371351450
|
|
NM_000135.4(FANCA):c.3164G>T (p.Arg1055Leu)
|
rs1429943036
|
|
NM_000135.4(FANCA):c.3175C>G (p.Leu1059Val)
|
rs964650941
|
|
NM_000135.4(FANCA):c.3184G>C (p.Gly1062Arg)
|
rs142379991
|
|
NM_000135.4(FANCA):c.3188G>C (p.Trp1063Ser)
|
rs1166286386
|
|
NM_000135.4(FANCA):c.3189G>T (p.Trp1063Cys)
|
|
|
NM_000135.4(FANCA):c.3190A>G (p.Ser1064Gly)
|
rs1014152202
|
|
NM_000135.4(FANCA):c.3193G>C (p.Val1065Leu)
|
rs140124051
|
|
NM_000135.4(FANCA):c.3197C>G (p.Ala1066Gly)
|
rs1419279017
|
|
NM_000135.4(FANCA):c.3202A>G (p.Ser1068Gly)
|
|
|
NM_000135.4(FANCA):c.3206T>G (p.Leu1069Arg)
|
rs756620986
|
|
NM_000135.4(FANCA):c.3216G>C (p.Gln1072His)
|
rs753298211
|
|
NM_000135.4(FANCA):c.3218G>A (p.Arg1073Lys)
|
|
|
NM_000135.4(FANCA):c.3230T>C (p.Met1077Thr)
|
rs776603588
|
|
NM_000135.4(FANCA):c.3233A>G (p.Tyr1078Cys)
|
|
|
NM_000135.4(FANCA):c.3238C>A (p.Arg1080=)
|
|
|
NM_000135.4(FANCA):c.3239+1dup
|
rs766989857
|
|
NM_000135.4(FANCA):c.3239+2T>G
|
rs1567603724
|
|
NM_000135.4(FANCA):c.323C>T (p.Pro108Leu)
|
|
|
NM_000135.4(FANCA):c.3240-3C>T
|
rs1315428324
|
|
NM_000135.4(FANCA):c.3240G>A (p.Arg1080=)
|
|
|
NM_000135.4(FANCA):c.3244C>T (p.Leu1082Phe)
|
rs2038477938
|
|
NM_000135.4(FANCA):c.3247C>T (p.Leu1083Phe)
|
rs2143128365
|
|
NM_000135.4(FANCA):c.324C>G (p.Pro108=)
|
rs775822054
|
|
NM_000135.4(FANCA):c.3251G>C (p.Arg1084Pro)
|
|
|
NM_000135.4(FANCA):c.3251G>T (p.Arg1084Leu)
|
rs752642945
|
|
NM_000135.4(FANCA):c.3254T>G (p.Leu1085Arg)
|
|
|
NM_000135.4(FANCA):c.325G>A (p.Val109Met)
|
rs772639206
|
|
NM_000135.4(FANCA):c.3266T>G (p.Val1089Gly)
|
rs2038476999
|
|
NM_000135.4(FANCA):c.3267C>T (p.Val1089=)
|
rs994416299
|
|
NM_000135.4(FANCA):c.3281G>A (p.Ser1094Asn)
|
|
|
NM_000135.4(FANCA):c.3281G>C (p.Ser1094Thr)
|
rs946572285
|
|
NM_000135.4(FANCA):c.3282C>G (p.Ser1094Arg)
|
rs761244757
|
|
NM_000135.4(FANCA):c.3286C>G (p.Gln1096Glu)
|
|
|
NM_000135.4(FANCA):c.3287A>G (p.Gln1096Arg)
|
rs1598074664
|
|
NM_000135.4(FANCA):c.3288G>C (p.Gln1096His)
|
rs1433848980
|
|
NM_000135.4(FANCA):c.3299C>A (p.Pro1100His)
|
|
|
NM_000135.4(FANCA):c.3301A>G (p.Ile1101Val)
|
rs2038475500
|
|
NM_000135.4(FANCA):c.3305C>T (p.Thr1102Ile)
|
rs771117949
|
|
NM_000135.4(FANCA):c.3311G>C (p.Arg1104Thr)
|
|
|
NM_000135.4(FANCA):c.3312A>G (p.Arg1104=)
|
rs1598074599
|
|
NM_000135.4(FANCA):c.3321G>T (p.Gln1107His)
|
rs1276452090
|
|
NM_000135.4(FANCA):c.3330C>A (p.His1110Gln)
|
|
|
NM_000135.4(FANCA):c.3331T>G (p.Leu1111Val)
|
|
|
NM_000135.4(FANCA):c.3335T>G (p.Val1112Gly)
|
rs2038474528
|
|
NM_000135.4(FANCA):c.3339C>G (p.Asn1113Lys)
|
rs1236607168
|
|
NM_000135.4(FANCA):c.3342_3343insCCT (p.Ser1114_Glu1115insPro)
|
|
|
NM_000135.4(FANCA):c.3344A>G (p.Glu1115Gly)
|
rs1057520051
|
|
NM_000135.4(FANCA):c.3348+4G>A
|
rs1217286568
|
|
NM_000135.4(FANCA):c.3349-10T>C
|
|
|
NM_000135.4(FANCA):c.3352A>G (p.Asn1118Asp)
|
rs371208490
|
|
NM_000135.4(FANCA):c.3359_3361del (p.Cys1120del)
|
rs1314042335
|
|
NM_000135.4(FANCA):c.3364C>T (p.His1122Tyr)
|
|
|
NM_000135.4(FANCA):c.3377T>C (p.Leu1126Pro)
|
rs2038408800
|
|
NM_000135.4(FANCA):c.3388A>G (p.Ile1130Val)
|
rs2038408286
|
|
NM_000135.4(FANCA):c.3390C>G (p.Ile1130Met)
|
rs373168838
|
|
NM_000135.4(FANCA):c.3395C>T (p.Ala1132Val)
|
|
|
NM_000135.4(FANCA):c.3397del (p.His1133fs)
|
rs758917273
|
|
NM_000135.4(FANCA):c.3404T>G (p.Phe1135Cys)
|
rs2143108985
|
|
NM_000135.4(FANCA):c.3408+1G>A
|
rs1567601557
|
|
NM_000135.4(FANCA):c.3408+6A>T
|
rs1269046351
|
|
NM_000135.4(FANCA):c.3409-2A>C
|
rs2143107119
|
|
NM_000135.4(FANCA):c.3409-3C>T
|
|
|
NM_000135.4(FANCA):c.3409-5T>G
|
rs2038402047
|
|
NM_000135.4(FANCA):c.3412C>T (p.Leu1138Phe)
|
rs138417003
|
|
NM_000135.4(FANCA):c.3418A>T (p.Asn1140Tyr)
|
|
|
NM_000135.4(FANCA):c.3419A>G (p.Asn1140Ser)
|
|
|
NM_000135.4(FANCA):c.3421G>T (p.Ala1141Ser)
|
rs547984666
|
|
NM_000135.4(FANCA):c.3422C>A (p.Ala1141Asp)
|
rs587778318
|
|
NM_000135.4(FANCA):c.3424T>C (p.Cys1142Arg)
|
rs2038401184
|
|
NM_000135.4(FANCA):c.3425G>A (p.Cys1142Tyr)
|
|
|
NM_000135.4(FANCA):c.3425G>C (p.Cys1142Ser)
|
|
|
NM_000135.4(FANCA):c.3428T>C (p.Leu1143Pro)
|
|
|
NM_000135.4(FANCA):c.3428T>G (p.Leu1143Arg)
|
rs1188842855
|
|
NM_000135.4(FANCA):c.3437G>A (p.Arg1146Lys)
|
|
|
NM_000135.4(FANCA):c.3439G>C (p.Asp1147His)
|
rs2038400529
|
|
NM_000135.4(FANCA):c.3462C>G (p.Phe1154Leu)
|
|
|
NM_000135.4(FANCA):c.3466C>G (p.Leu1156Val)
|
|
|
NM_000135.4(FANCA):c.3467T>A (p.Leu1156Gln)
|
rs1281597417
|
|
NM_000135.4(FANCA):c.3469G>T (p.Ala1157Ser)
|
rs1347794550
|
|
NM_000135.4(FANCA):c.346A>C (p.Met116Leu)
|
|
|
NM_000135.4(FANCA):c.3470C>T (p.Ala1157Val)
|
|
|
NM_000135.4(FANCA):c.3480G>C (p.Gln1160His)
|
rs983310870
|
|
NM_000135.4(FANCA):c.3481A>G (p.Thr1161Ala)
|
|
|
NM_000135.4(FANCA):c.3482C>A (p.Thr1161Lys)
|
rs142833057
|
|
NM_000135.4(FANCA):c.3490C>T (p.Pro1164Ser)
|
rs545772434
|
|
NM_000135.4(FANCA):c.3496A>G (p.Ile1166Val)
|
|
|
NM_000135.4(FANCA):c.3503C>T (p.Thr1168Ile)
|
|
|
NM_000135.4(FANCA):c.3508G>C (p.Ala1170Pro)
|
rs778280114
|
|
NM_000135.4(FANCA):c.3512T>C (p.Leu1171Pro)
|
rs1598070682
|
|
NM_000135.4(FANCA):c.3513+4G>A
|
rs878946193
|
|
NM_000135.4(FANCA):c.3513+4G>C
|
rs878946193
|
|
NM_000135.4(FANCA):c.3515T>C (p.Val1172Ala)
|
|
|
NM_000135.4(FANCA):c.3519G>C (p.Trp1173Cys)
|
|
|
NM_000135.4(FANCA):c.3527G>T (p.Ser1176Ile)
|
|
|
NM_000135.4(FANCA):c.3531G>A (p.Leu1177=)
|
rs886052482
|
|
NM_000135.4(FANCA):c.3532G>A (p.Glu1178Lys)
|
|
|
NM_000135.4(FANCA):c.3536C>T (p.Pro1179Leu)
|
|
|
NM_000135.4(FANCA):c.3538G>C (p.Val1180Leu)
|
rs372706571
|
|
NM_000135.4(FANCA):c.3539T>A (p.Val1180Glu)
|
rs2143088182
|
|
NM_000135.4(FANCA):c.353C>G (p.Ala118Gly)
|
|
|
NM_000135.4(FANCA):c.3540_3545del (p.Leu1181_Leu1182del)
|
|
|
NM_000135.4(FANCA):c.3542T>G (p.Leu1181Arg)
|
rs1300778675
|
|
NM_000135.4(FANCA):c.3547T>G (p.Cys1183Gly)
|
rs763856094
|
|
NM_000135.4(FANCA):c.3548G>C (p.Cys1183Ser)
|
rs2143088016
|
|
NM_000135.4(FANCA):c.3551G>A (p.Arg1184Gln)
|
rs147672303
|
|
NM_000135.4(FANCA):c.3555G>A (p.Trp1185Ter)
|
rs1185165443
|
|
NM_000135.4(FANCA):c.3560G>A (p.Arg1187Lys)
|
|
|
NM_000135.4(FANCA):c.3566G>T (p.Cys1189Phe)
|
|
|
NM_000135.4(FANCA):c.3569A>G (p.Gln1190Arg)
|
rs1450954823
|
|
NM_000135.4(FANCA):c.356C>G (p.Ser119Cys)
|
rs751309143
|
|
NM_000135.4(FANCA):c.3570G>C (p.Gln1190His)
|
rs1382222104
|
|
NM_000135.4(FANCA):c.3574C>T (p.Pro1192Ser)
|
rs2062210666
|
|
NM_000135.4(FANCA):c.3580C>T (p.Pro1194Ser)
|
rs1415910337
|
|
NM_000135.4(FANCA):c.3583C>G (p.Arg1195Gly)
|
rs143642304
|
|
NM_000135.4(FANCA):c.3586G>C (p.Glu1196Gln)
|
rs1390620949
|
|
NM_000135.4(FANCA):c.3602AAG[1] (p.Glu1202del)
|
rs1380850249
|
|
NM_000135.4(FANCA):c.3603A>C (p.Gln1201His)
|
rs1157577447
|
|
NM_000135.4(FANCA):c.3605_3606delinsGC (p.Glu1202Gly)
|
rs2062210162
|
|
NM_000135.4(FANCA):c.360C>A (p.Ser120Arg)
|
rs968636087
|
|
NM_000135.4(FANCA):c.3610C>G (p.Arg1204Gly)
|
rs759303096
|
|
NM_000135.4(FANCA):c.3620C>T (p.Ala1207Val)
|
|
|
NM_000135.4(FANCA):c.3623G>T (p.Ser1208Ile)
|
rs1351484293
|
|
NM_000135.4(FANCA):c.3625G>A (p.Asp1209Asn)
|
|
|
NM_000135.4(FANCA):c.3626+5G>A
|
rs370801038
|
|
NM_000135.4(FANCA):c.3626+5G>C
|
rs370801038
|
|
NM_000135.4(FANCA):c.3627-13CT[2]
|
|
|
NM_000135.4(FANCA):c.3627-1G>A
|
rs2062172440
|
|
NM_000135.4(FANCA):c.3635C>A (p.Ser1212Tyr)
|
|
|
NM_000135.4(FANCA):c.3635C>T (p.Ser1212Phe)
|
rs1203053045
|
|
NM_000135.4(FANCA):c.3639T>C (p.Pro1213=)
|
rs1567598479
|
|
NM_000135.4(FANCA):c.3641A>T (p.Glu1214Val)
|
|
|
NM_000135.4(FANCA):c.3646G>T (p.Ala1216Ser)
|
rs1262639465
|
|
NM_000135.4(FANCA):c.3650C>G (p.Ser1217Cys)
|
rs2062171853
|
|
NM_000135.4(FANCA):c.3652C>T (p.Pro1218Ser)
|
rs1555535564
|
|
NM_000135.4(FANCA):c.3653_3654inv (p.Pro1218Leu)
|
|
|
NM_000135.4(FANCA):c.3658C>G (p.Pro1220Ala)
|
|
|
NM_000135.4(FANCA):c.3659C>G (p.Pro1220Arg)
|
rs2062171639
|
|
NM_000135.4(FANCA):c.3664C>G (p.Pro1222Ala)
|
|
|
NM_000135.4(FANCA):c.3679G>A (p.Ala1227Thr)
|
|
|
NM_000135.4(FANCA):c.367C>A (p.Gln123Lys)
|
rs985886242
|
|
NM_000135.4(FANCA):c.367C>G (p.Gln123Glu)
|
rs985886242
|
|
NM_000135.4(FANCA):c.3682G>A (p.Ala1228Thr)
|
rs2062171185
|
|
NM_000135.4(FANCA):c.3683C>G (p.Ala1228Gly)
|
|
|
NM_000135.4(FANCA):c.3685G>A (p.Ala1229Thr)
|
rs2143062040
|
|
NM_000135.4(FANCA):c.3686C>G (p.Ala1229Gly)
|
rs1465548673
|
|
NM_000135.4(FANCA):c.368A>G (p.Gln123Arg)
|
|
|
NM_000135.4(FANCA):c.3691C>T (p.His1231Tyr)
|
|
|
NM_000135.4(FANCA):c.3698C>G (p.Ala1233Gly)
|
rs545742908
|
|
NM_000135.4(FANCA):c.3698C>T (p.Ala1233Val)
|
rs545742908
|
|
NM_000135.4(FANCA):c.3700A>G (p.Ile1234Val)
|
rs1598063117
|
|
NM_000135.4(FANCA):c.3701T>C (p.Ile1234Thr)
|
rs886052481
|
|
NM_000135.4(FANCA):c.3703CAA[1] (p.Gln1236del)
|
rs1555535513
|
|
NM_000135.4(FANCA):c.3706C>G (p.Gln1236Glu)
|
|
|
NM_000135.4(FANCA):c.3708A>C (p.Gln1236His)
|
rs1192518263
|
|
NM_000135.4(FANCA):c.3715G>A (p.Glu1239Lys)
|
rs2143061441
|
|
NM_000135.4(FANCA):c.3718G>C (p.Glu1240Gln)
|
rs150719428
|
|
NM_000135.4(FANCA):c.371T>C (p.Ile124Thr)
|
|
|
NM_000135.4(FANCA):c.3725_3727del (p.Ile1242del)
|
rs1441710252
|
|
NM_000135.4(FANCA):c.3726C>T (p.Ile1242=)
|
|
|
NM_000135.4(FANCA):c.372C>G (p.Ile124Met)
|
rs765016775
|
|
NM_000135.4(FANCA):c.3732G>C (p.Lys1244Asn)
|
|
|
NM_000135.4(FANCA):c.3742A>C (p.Lys1248Gln)
|
|
|
NM_000135.4(FANCA):c.374G>C (p.Cys125Ser)
|
rs761165542
|
|
NM_000135.4(FANCA):c.3753C>T (p.Cys1251=)
|
|
|
NM_000135.4(FANCA):c.3757A>G (p.Arg1253Gly)
|
rs2143060537
|
|
NM_000135.4(FANCA):c.375C>T (p.Cys125=)
|
rs199793463
|
|
NM_000135.4(FANCA):c.3766-3C>T
|
|
|
NM_000135.4(FANCA):c.3766C>G (p.Leu1256Val)
|
|
|
NM_000135.4(FANCA):c.376A>G (p.Thr126Ala)
|
|
|
NM_000135.4(FANCA):c.376A>T (p.Thr126Ser)
|
rs953219736
|
|
NM_000135.4(FANCA):c.3771G>T (p.Leu1257Phe)
|
rs1402327994
|
|
NM_000135.4(FANCA):c.3778_3783del (p.Leu1260_Phe1261del)
|
rs1157717956
|
|
NM_000135.4(FANCA):c.377C>G (p.Thr126Arg)
|
rs139160837
|
|
NM_000135.4(FANCA):c.377C>T (p.Thr126Met)
|
rs139160837
|
|
NM_000135.4(FANCA):c.3783C>G (p.Phe1261Leu)
|
|
|
NM_000135.4(FANCA):c.3784T>C (p.Phe1262Leu)
|
rs1555534579
|
|
NM_000135.4(FANCA):c.3788T>A (p.Phe1263Tyr)
|
|
|
NM_000135.4(FANCA):c.3788T>C (p.Phe1263Ser)
|
rs2062115558
|
|
NM_000135.4(FANCA):c.3789_3794dup (p.Ser1264_Leu1265insPheSer)
|
|
|
NM_000135.4(FANCA):c.3792_3794del (p.Leu1265del)
|
rs2151716800
|
|
NM_000135.4(FANCA):c.3795G>C (p.Leu1265Phe)
|
rs1010989878
|
|
NM_000135.4(FANCA):c.3795G>T (p.Leu1265Phe)
|
|
|
NM_000135.4(FANCA):c.37C>G (p.Gln13Glu)
|
rs766131144
|
|
NM_000135.4(FANCA):c.380C>T (p.Ala127Val)
|
rs2143679916
|
|
NM_000135.4(FANCA):c.3814C>T (p.His1272Tyr)
|
rs2062114648
|
|
NM_000135.4(FANCA):c.3815A>G (p.His1272Arg)
|
|
|
NM_000135.4(FANCA):c.3825A>G (p.Ser1275=)
|
rs886052480
|
|
NM_000135.4(FANCA):c.3826A>G (p.Asn1276Asp)
|
rs2062114365
|
|
NM_000135.4(FANCA):c.3828T>C (p.Asn1276=)
|
|
|
NM_000135.4(FANCA):c.3829-14C>G
|
|
|
NM_000135.4(FANCA):c.3850G>A (p.Ala1284Thr)
|
rs142919010
|
|
NM_000135.4(FANCA):c.3850G>C (p.Ala1284Pro)
|
rs142919010
|
|
NM_000135.4(FANCA):c.3851C>A (p.Ala1284Asp)
|
|
|
NM_000135.4(FANCA):c.3853T>C (p.Phe1285Leu)
|
rs1470679036
|
|
NM_000135.4(FANCA):c.3855C>A (p.Phe1285Leu)
|
|
|
NM_000135.4(FANCA):c.3858C>A (p.His1286Gln)
|
rs761705192
|
|
NM_000135.4(FANCA):c.3859G>T (p.Val1287Phe)
|
rs17227354
|
|
NM_000135.4(FANCA):c.385G>A (p.Ala129Thr)
|
rs374945563
|
|
NM_000135.4(FANCA):c.3863G>T (p.Cys1288Phe)
|
rs2062089641
|
|
NM_000135.4(FANCA):c.3865G>C (p.Ala1289Pro)
|
rs2151714785
|
|
NM_000135.4(FANCA):c.3869C>T (p.Ala1290Val)
|
|
|
NM_000135.4(FANCA):c.386C>A (p.Ala129Glu)
|
rs577625130
|
|
NM_000135.4(FANCA):c.386C>G (p.Ala129Gly)
|
|
|
NM_000135.4(FANCA):c.3871A>G (p.Ile1291Val)
|
rs547572315
|
|
NM_000135.4(FANCA):c.3876_3877delinsAA (p.Glu1293Lys)
|
|
|
NM_000135.4(FANCA):c.3877G>A (p.Glu1293Lys)
|
rs1015729981
|
|
NM_000135.4(FANCA):c.3878del (p.Glu1293fs)
|
rs2062089336
|
|
NM_000135.4(FANCA):c.3884T>C (p.Leu1295Ser)
|
rs986710868
|
|
NM_000135.4(FANCA):c.3884T>G (p.Leu1295Ter)
|
rs986710868
|
|
NM_000135.4(FANCA):c.3889A>G (p.Lys1297Glu)
|
|
|
NM_000135.4(FANCA):c.3896_3898del (p.Lys1299del)
|
|
|
NM_000135.4(FANCA):c.3897G>C (p.Lys1299Asn)
|
|
|
NM_000135.4(FANCA):c.3898A>G (p.Ile1300Val)
|
rs1232415717
|
|
NM_000135.4(FANCA):c.38A>G (p.Gln13Arg)
|
rs1264855885
|
|
NM_000135.4(FANCA):c.3901T>A (p.Ser1301Thr)
|
rs765162125
|
|
NM_000135.4(FANCA):c.3904T>C (p.Trp1302Arg)
|
rs878853665
|
|
NM_000135.4(FANCA):c.3908T>C (p.Leu1303Pro)
|
rs1598055304
|
|
NM_000135.4(FANCA):c.390G>T (p.Glu130Asp)
|
|
|
NM_000135.4(FANCA):c.3916T>C (p.Phe1306Leu)
|
|
|
NM_000135.4(FANCA):c.3919C>G (p.Gln1307Glu)
|
|
|
NM_000135.4(FANCA):c.3924G>T (p.Leu1308Phe)
|
rs775127240
|
|
NM_000135.4(FANCA):c.3930G>C (p.Glu1310Asp)
|
rs2151714594
|
|
NM_000135.4(FANCA):c.3932G>A (p.Ser1311Asn)
|
rs2062087829
|
|
NM_000135.4(FANCA):c.3934+1G>A
|
rs2062087795
|
|
NM_000135.4(FANCA):c.3934+1_3934+18del
|
rs2062086999
|
|
NM_000135.4(FANCA):c.3934+4A>G
|
rs2062087707
|
|
NM_000135.4(FANCA):c.3934+5G>A
|
|
|
NM_000135.4(FANCA):c.3935-3C>G
|
|
|
NM_000135.4(FANCA):c.3935-7G>A
|
rs2062071481
|
|
NM_000135.4(FANCA):c.3937C>T (p.Leu1313Phe)
|
rs551306400
|
|
NM_000135.4(FANCA):c.394A>T (p.Ser132Cys)
|
|
|
NM_000135.4(FANCA):c.3952C>G (p.Leu1318Val)
|
rs2151712993
|
|
NM_000135.4(FANCA):c.3953TCC[2] (p.Leu1320del)
|
rs927201841
|
|
NM_000135.4(FANCA):c.3955C>T (p.Leu1319Phe)
|
|
|
NM_000135.4(FANCA):c.3961C>A (p.Arg1321Ser)
|
rs755375493
|
|
NM_000135.4(FANCA):c.3961C>T (p.Arg1321Cys)
|
rs755375493
|
|
NM_000135.4(FANCA):c.3962G>C (p.Arg1321Pro)
|
rs374649848
|
|
NM_000135.4(FANCA):c.396T>G (p.Ser132Arg)
|
rs1272640964
|
|
NM_000135.4(FANCA):c.3970C>T (p.Pro1324Ser)
|
rs2151712907
|
|
NM_000135.4(FANCA):c.3975T>G (p.Asp1325Glu)
|
rs962823945
|
|
NM_000135.4(FANCA):c.3976C>G (p.Gln1326Glu)
|
|
|
NM_000135.4(FANCA):c.397C>T (p.His133Tyr)
|
|
|
NM_000135.4(FANCA):c.3988C>A (p.Leu1330Met)
|
|
|
NM_000135.4(FANCA):c.3989_3994del (p.Leu1330_Leu1331del)
|
rs1555533593
|
|
NM_000135.4(FANCA):c.3999C>A (p.Phe1333Leu)
|
rs774576283
|
|
NM_000135.4(FANCA):c.4004T>C (p.Phe1335Ser)
|
|
|
NM_000135.4(FANCA):c.4010+5C>T
|
rs1353285713
|
|
NM_000135.4(FANCA):c.4010G>A (p.Ser1337Asn)
|
rs2062067864
|
|
NM_000135.4(FANCA):c.4011-3T>C
|
rs1257557473
|
|
NM_000135.4(FANCA):c.4015C>G (p.Leu1339Val)
|
|
|
NM_000135.4(FANCA):c.4022A>C (p.Tyr1341Ser)
|
rs768733593
|
|
NM_000135.4(FANCA):c.4022A>G (p.Tyr1341Cys)
|
|
|
NM_000135.4(FANCA):c.4025T>G (p.Phe1342Cys)
|
|
|
NM_000135.4(FANCA):c.4026C>A (p.Phe1342Leu)
|
|
|
NM_000135.4(FANCA):c.4029T>G (p.His1343Gln)
|
rs745577614
|
|
NM_000135.4(FANCA):c.402T>C (p.Pro134=)
|
rs745666586
|
|
NM_000135.4(FANCA):c.4033G>C (p.Asp1345His)
|
|
|
NM_000135.4(FANCA):c.4039G>A (p.Ala1347Thr)
|
rs751928369
|
|
NM_000135.4(FANCA):c.4053G>C (p.Glu1351Asp)
|
rs1477796994
|
|
NM_000135.4(FANCA):c.4056C>T (p.Ala1352=)
|
rs2062057880
|
|
NM_000135.4(FANCA):c.4061T>C (p.Leu1354Pro)
|
|
|
NM_000135.4(FANCA):c.4064A>C (p.His1355Pro)
|
|
|
NM_000135.4(FANCA):c.4064A>G (p.His1355Arg)
|
|
|
NM_000135.4(FANCA):c.4070C>T (p.Ala1357Val)
|
|
|
NM_000135.4(FANCA):c.4075G>C (p.Asp1359His)
|
rs1555533313
|
|
NM_000135.4(FANCA):c.4075G>T (p.Asp1359Tyr)
|
rs1555533313
|
|
NM_000135.4(FANCA):c.4078A>G (p.Met1360Val)
|
|
|
NM_000135.4(FANCA):c.4080G>A (p.Met1360Ile)
|
rs1555533300
|
|
NM_000135.4(FANCA):c.4084T>G (p.Leu1362Val)
|
rs775351812
|
|
NM_000135.4(FANCA):c.4088A>G (p.Lys1363Arg)
|
rs773947543
|
|
NM_000135.4(FANCA):c.4093G>C (p.Val1365Leu)
|
rs529210242
|
|
NM_000135.4(FANCA):c.4099C>T (p.Leu1367Phe)
|
|
|
NM_000135.4(FANCA):c.4105G>A (p.Val1369Met)
|
rs201225325
|
|
NM_000135.4(FANCA):c.4105G>C (p.Val1369Leu)
|
rs201225325
|
|
NM_000135.4(FANCA):c.4111G>A (p.Gly1371Arg)
|
|
|
NM_000135.4(FANCA):c.4118C>G (p.Thr1373Arg)
|
rs1277481284
|
|
NM_000135.4(FANCA):c.4124C>T (p.Thr1375Ile)
|
rs2062055389
|
|
NM_000135.4(FANCA):c.4126G>A (p.Val1376Ile)
|
|
|
NM_000135.4(FANCA):c.4128T>C (p.Val1376=)
|
rs1209384219
|
|
NM_000135.4(FANCA):c.4132C>T (p.Pro1378Ser)
|
rs2062055110
|
|
NM_000135.4(FANCA):c.4135C>A (p.Pro1379Thr)
|
|
|
NM_000135.4(FANCA):c.4138G>A (p.Ala1380Thr)
|
rs775234845
|
|
NM_000135.4(FANCA):c.4138G>C (p.Ala1380Pro)
|
rs775234845
|
|
NM_000135.4(FANCA):c.4145G>C (p.Arg1382Thr)
|
rs367970303
|
|
NM_000135.4(FANCA):c.4147A>G (p.Ser1383Gly)
|
rs2062054242
|
|
NM_000135.4(FANCA):c.4149C>G (p.Ser1383Arg)
|
|
|
NM_000135.4(FANCA):c.4155G>C (p.Glu1385Asp)
|
rs770551622
|
|
NM_000135.4(FANCA):c.415G>A (p.Val139Met)
|
|
|
NM_000135.4(FANCA):c.4167+5G>A
|
|
|
NM_000135.4(FANCA):c.4167G>C (p.Gln1389His)
|
rs1598051449
|
|
NM_000135.4(FANCA):c.4167G>T (p.Gln1389His)
|
rs1598051449
|
|
NM_000135.4(FANCA):c.4168-4C>T
|
rs775180524
|
|
NM_000135.4(FANCA):c.4169G>T (p.Gly1390Val)
|
rs2062046761
|
|
NM_000135.4(FANCA):c.4174C>T (p.Pro1392Ser)
|
|
|
NM_000135.4(FANCA):c.4186A>T (p.Ile1396Leu)
|
rs1376923890
|
|
NM_000135.4(FANCA):c.4187T>A (p.Ile1396Lys)
|
|
|
NM_000135.4(FANCA):c.4187T>C (p.Ile1396Thr)
|
|
|
NM_000135.4(FANCA):c.4190C>A (p.Thr1397Lys)
|
|
|
NM_000135.4(FANCA):c.4193A>G (p.Lys1398Arg)
|
|
|
NM_000135.4(FANCA):c.4195G>A (p.Ala1399Thr)
|
rs749574677
|
|
NM_000135.4(FANCA):c.4196C>T (p.Ala1399Val)
|
rs1457671800
|
|
NM_000135.4(FANCA):c.4232C>A (p.Pro1411Gln)
|
rs201494304
|
|
NM_000135.4(FANCA):c.4241G>C (p.Ser1414Thr)
|
rs772122405
|
|
NM_000135.4(FANCA):c.4253T>C (p.Val1418Ala)
|
|
|
NM_000135.4(FANCA):c.425G>C (p.Arg142Thr)
|
|
|
NM_000135.4(FANCA):c.426+18A>T
|
|
|
NM_000135.4(FANCA):c.426+3A>G
|
|
|
NM_000135.4(FANCA):c.426+4A>G
|
|
|
NM_000135.4(FANCA):c.4260+5C>T
|
|
|
NM_000135.4(FANCA):c.4260+6G>A
|
rs374793201
|
|
NM_000135.4(FANCA):c.4260+6G>C
|
rs374793201
|
|
NM_000135.4(FANCA):c.4260+6G>T
|
rs374793201
|
|
NM_000135.4(FANCA):c.4260G>C (p.Glu1420Asp)
|
rs2151710661
|
|
NM_000135.4(FANCA):c.4261-10TC[2]
|
|
|
NM_000135.4(FANCA):c.4261-11_4261-9del
|
rs2151710048
|
|
NM_000135.4(FANCA):c.4261-13T>A
|
rs2151710077
|
|
NM_000135.4(FANCA):c.4261-19_4261-12del
|
rs1567591276
|
|
NM_000135.4(FANCA):c.4261-2A>G
|
rs915983602
|
|
NM_000135.4(FANCA):c.4261-7C>G
|
|
|
NM_000135.4(FANCA):c.4264C>A (p.Leu1422Met)
|
|
|
NM_000135.4(FANCA):c.4264C>G (p.Leu1422Val)
|
|
|
NM_000135.4(FANCA):c.427-12CT[2]
|
rs2143678081
|
|
NM_000135.4(FANCA):c.4273C>G (p.Arg1425Gly)
|
rs587778321
|
|
NM_000135.4(FANCA):c.4274G>C (p.Arg1425Pro)
|
rs147406377
|
|
NM_000135.4(FANCA):c.4276G>C (p.Gly1426Arg)
|
|
|
NM_000135.4(FANCA):c.4277G>T (p.Gly1426Val)
|
rs1350768758
|
|
NM_000135.4(FANCA):c.427A>C (p.Lys143Gln)
|
|
|
NM_000135.4(FANCA):c.427_428delinsTG (p.Lys143Trp)
|
rs2040847073
|
|
NM_000135.4(FANCA):c.4283G>C (p.Cys1428Ser)
|
|
|
NM_000135.4(FANCA):c.4285G>A (p.Asp1429Asn)
|
rs748856769
|
|
NM_000135.4(FANCA):c.4286_4300dup (p.Ser1433_Ala1434insAspProGluValSer)
|
|
|
NM_000135.4(FANCA):c.4288C>G (p.Pro1430Ala)
|
|
|
NM_000135.4(FANCA):c.4291G>A (p.Glu1431Lys)
|
rs1567591125
|
|
NM_000135.4(FANCA):c.4291G>C (p.Glu1431Gln)
|
rs1567591125
|
|
NM_000135.4(FANCA):c.4293G>C (p.Glu1431Asp)
|
rs1235881790
|
|
NM_000135.4(FANCA):c.4294G>A (p.Val1432Met)
|
|
|
NM_000135.4(FANCA):c.4295T>G (p.Val1432Gly)
|
|
|
NM_000135.4(FANCA):c.4299C>G (p.Ser1433Arg)
|
rs568293451
|
|
NM_000135.4(FANCA):c.42C>G (p.Asp14Glu)
|
rs750021837
|
|
NM_000135.4(FANCA):c.4307T>A (p.Leu1436His)
|
|
|
NM_000135.4(FANCA):c.4313G>A (p.Ser1438Asn)
|
|
|
NM_000135.4(FANCA):c.4316G>C (p.Arg1439Thr)
|
rs587778322
|
|
NM_000135.4(FANCA):c.4318C>T (p.Gln1440Ter)
|
rs767234774
|
|
NM_000135.4(FANCA):c.4319del (p.Gln1440fs)
|
rs2151709763
|
|
NM_000135.4(FANCA):c.4321C>T (p.Gln1441Ter)
|
|
|
NM_000135.4(FANCA):c.4328C>T (p.Ala1443Val)
|
|
|
NM_000135.4(FANCA):c.432G>C (p.Lys144Asn)
|
|
|
NM_000135.4(FANCA):c.4330C>G (p.Pro1444Ala)
|
|
|
NM_000135.4(FANCA):c.4333G>A (p.Asp1445Asn)
|
rs769025633
|
|
NM_000135.4(FANCA):c.4335C>G (p.Asp1445Glu)
|
|
|
NM_000135.4(FANCA):c.4336G>A (p.Ala1446Thr)
|
|
|
NM_000135.4(FANCA):c.4336G>T (p.Ala1446Ser)
|
|
|
NM_000135.4(FANCA):c.4343T>G (p.Leu1448Arg)
|
rs1223154937
|
|
NM_000135.4(FANCA):c.4344_4356del (p.Ser1449fs)
|
|
|
NM_000135.4(FANCA):c.4346C>G (p.Ser1449Cys)
|
rs779236651
|
|
NM_000135.4(FANCA):c.4349A>G (p.Gln1450Arg)
|
rs757549007
|
|
NM_000135.4(FANCA):c.4351G>C (p.Glu1451Gln)
|
rs1043241541
|
|
NM_000135.4(FANCA):c.4354C>T (p.Pro1452Ser)
|
rs1489574740
|
|
NM_000135.4(FANCA):c.4355C>G (p.Pro1452Arg)
|
|
|
NM_000135.4(FANCA):c.4357C>T (p.His1453Tyr)
|
rs1338647532
|
|
NM_000135.4(FANCA):c.4358del (p.His1453fs)
|
rs2151709638
|
|
NM_000135.4(FANCA):c.4361T>C (p.Leu1454Pro)
|
rs2151709628
|
|
NM_000135.4(FANCA):c.44C>T (p.Pro15Leu)
|
|
|
NM_000135.4(FANCA):c.453T>G (p.Phe151Leu)
|
rs2143677733
|
|
NM_000135.4(FANCA):c.46G>A (p.Gly16Arg)
|
|
|
NM_000135.4(FANCA):c.493T>A (p.Ser165Thr)
|
rs113468465
|
|
NM_000135.4(FANCA):c.494C>G (p.Ser165Cys)
|
rs141918444
|
|
NM_000135.4(FANCA):c.494C>T (p.Ser165Phe)
|
rs141918444
|
|
NM_000135.4(FANCA):c.49G>T (p.Gly17Cys)
|
|
|
NM_000135.4(FANCA):c.4T>G (p.Ser2Ala)
|
rs2041144813
|
|
NM_000135.4(FANCA):c.500G>A (p.Cys167Tyr)
|
rs1257428184
|
|
NM_000135.4(FANCA):c.505G>A (p.Glu169Lys)
|
rs372691338
|
|
NM_000135.4(FANCA):c.505G>C (p.Glu169Gln)
|
|
|
NM_000135.4(FANCA):c.506A>T (p.Glu169Val)
|
rs1403377153
|
|
NM_000135.4(FANCA):c.50G>A (p.Gly17Asp)
|
|
|
NM_000135.4(FANCA):c.50G>C (p.Gly17Ala)
|
rs1326963514
|
|
NM_000135.4(FANCA):c.511T>C (p.Trp171Arg)
|
|
|
NM_000135.4(FANCA):c.512G>T (p.Trp171Leu)
|
rs2143677109
|
|
NM_000135.4(FANCA):c.515A>G (p.Lys172Arg)
|
rs2040844359
|
|
NM_000135.4(FANCA):c.520C>A (p.Gln174Lys)
|
rs1454055874
|
|
NM_000135.4(FANCA):c.527C>G (p.Ser176Cys)
|
rs35566151
|
|
NM_000135.4(FANCA):c.529T>G (p.Leu177Val)
|
rs2040743961
|
|
NM_000135.4(FANCA):c.53G>A (p.Arg18His)
|
|
|
NM_000135.4(FANCA):c.541G>A (p.Ala181Thr)
|
rs2143657513
|
|
NM_000135.4(FANCA):c.542C>A (p.Ala181Glu)
|
rs17232246
|
|
NM_000135.4(FANCA):c.542_543delinsTC (p.Ala181Val)
|
rs1598184528
|
|
NM_000135.4(FANCA):c.545T>C (p.Val182Ala)
|
rs2040743042
|
|
NM_000135.4(FANCA):c.553C>G (p.Leu185Val)
|
rs587778323
|
|
NM_000135.4(FANCA):c.558C>G (p.His186Gln)
|
rs149159377
|
|
NM_000135.4(FANCA):c.559G>C (p.Val187Leu)
|
rs761538996
|
|
NM_000135.4(FANCA):c.565G>C (p.Gly189Arg)
|
rs2143657111
|
|
NM_000135.4(FANCA):c.569T>C (p.Ile190Thr)
|
|
|
NM_000135.4(FANCA):c.574A>C (p.Ser192Arg)
|
|
|
NM_000135.4(FANCA):c.575G>T (p.Ser192Ile)
|
rs771439604
|
|
NM_000135.4(FANCA):c.581A>G (p.Gln194Arg)
|
|
|
NM_000135.4(FANCA):c.583G>A (p.Glu195Lys)
|
rs2143656849
|
|
NM_000135.4(FANCA):c.590T>C (p.Leu197Pro)
|
rs886052488
|
|
NM_000135.4(FANCA):c.596+6G>T
|
rs369548513
|
|
NM_000135.4(FANCA):c.597-11T>G
|
|
|
NM_000135.4(FANCA):c.599A>G (p.His200Arg)
|
|
|
NM_000135.4(FANCA):c.5C>G (p.Ser2Cys)
|
rs928016876
|
|
NM_000135.4(FANCA):c.5C>T (p.Ser2Phe)
|
rs928016876
|
|
NM_000135.4(FANCA):c.605A>G (p.Asp202Gly)
|
|
|
NM_000135.4(FANCA):c.607A>G (p.Met203Val)
|
rs2143632366
|
|
NM_000135.4(FANCA):c.614C>G (p.Ala205Gly)
|
rs777556447
|
|
NM_000135.4(FANCA):c.616G>T (p.Val206Leu)
|
rs2143632297
|
|
NM_000135.4(FANCA):c.623C>G (p.Ser208Trp)
|
rs144420697
|
|
NM_000135.4(FANCA):c.627G>C (p.Trp209Cys)
|
rs1018067067
|
|
NM_000135.4(FANCA):c.628C>G (p.Leu210Val)
|
rs2143632135
|
|
NM_000135.4(FANCA):c.631T>C (p.Phe211Leu)
|
|
|
NM_000135.4(FANCA):c.641T>G (p.Leu214Arg)
|
|
|
NM_000135.4(FANCA):c.643T>A (p.Cys215Ser)
|
|
|
NM_000135.4(FANCA):c.647G>C (p.Cys216Ser)
|
rs750011288
|
|
NM_000135.4(FANCA):c.649C>T (p.Leu217Phe)
|
|
|
NM_000135.4(FANCA):c.659A>G (p.Gln220Arg)
|
|
|
NM_000135.4(FANCA):c.65G>C (p.Trp22Ser)
|
rs761341952
|
|
NM_000135.4(FANCA):c.663G>A (p.Met221Ile)
|
rs1161493688
|
|
NM_000135.4(FANCA):c.664G>A (p.Glu222Lys)
|
rs2040599267
|
|
NM_000135.4(FANCA):c.667G>C (p.Ala223Pro)
|
rs771195871
|
|
NM_000135.4(FANCA):c.668C>T (p.Ala223Val)
|
rs749362808
|
|
NM_000135.4(FANCA):c.674G>A (p.Cys225Tyr)
|
|
|
NM_000135.4(FANCA):c.679C>T (p.His227Tyr)
|
|
|
NM_000135.4(FANCA):c.68C>A (p.Ala23Asp)
|
|
|
NM_000135.4(FANCA):c.68C>T (p.Ala23Val)
|
rs776297241
|
|
NM_000135.4(FANCA):c.691G>A (p.Ala231Thr)
|
rs746814384
|
|
NM_000135.4(FANCA):c.691G>T (p.Ala231Ser)
|
rs746814384
|
|
NM_000135.4(FANCA):c.703C>T (p.Leu235Phe)
|
rs1316244239
|
|
NM_000135.4(FANCA):c.710-10G>A
|
rs2040524006
|
|
NM_000135.4(FANCA):c.710-16T>A
|
|
|
NM_000135.4(FANCA):c.710-2A>G
|
rs2040523467
|
|
NM_000135.4(FANCA):c.710-3C>A
|
|
|
NM_000135.4(FANCA):c.715G>A (p.Val239Ile)
|
|
|
NM_000135.4(FANCA):c.715G>C (p.Val239Leu)
|
|
|
NM_000135.4(FANCA):c.718C>G (p.Gln240Glu)
|
rs1184639006
|
|
NM_000135.4(FANCA):c.732G>C (p.Leu244Phe)
|
rs2040522671
|
|
NM_000135.4(FANCA):c.735G>C (p.Arg245Ser)
|
|
|
NM_000135.4(FANCA):c.742C>A (p.Gln248Lys)
|
rs760744752
|
|
NM_000135.4(FANCA):c.745A>G (p.Lys249Glu)
|
|
|
NM_000135.4(FANCA):c.74T>G (p.Leu25Arg)
|
rs886052489
|
|
NM_000135.4(FANCA):c.752C>T (p.Ser251Leu)
|
rs878853666
|
|
NM_000135.4(FANCA):c.754_755delinsAG (p.Asp252Ser)
|
rs587778324
|
|
NM_000135.4(FANCA):c.761GAA[1] (p.Arg255del)
|
rs555210441
|
|
NM_000135.4(FANCA):c.765A>C (p.Arg255Ser)
|
rs1025722534
|
|
NM_000135.4(FANCA):c.766A>G (p.Thr256Ala)
|
rs898767175
|
|
NM_000135.4(FANCA):c.767C>A (p.Thr256Asn)
|
rs377078635
|
|
NM_000135.4(FANCA):c.768T>C (p.Thr256=)
|
rs1459779461
|
|
NM_000135.4(FANCA):c.769G>T (p.Val257Leu)
|
rs777311234
|
|
NM_000135.4(FANCA):c.76C>G (p.Leu26Val)
|
rs2041137276
|
|
NM_000135.4(FANCA):c.775C>G (p.Pro259Ala)
|
rs200988394
|
|
NM_000135.4(FANCA):c.775C>T (p.Pro259Ser)
|
|
|
NM_000135.4(FANCA):c.776C>G (p.Pro259Arg)
|
rs1598173112
|
|
NM_000135.4(FANCA):c.779A>G (p.Glu260Gly)
|
|
|
NM_000135.4(FANCA):c.788C>T (p.Pro263Leu)
|
|
|
NM_000135.4(FANCA):c.79+4G>A
|
rs2041136967
|
|
NM_000135.4(FANCA):c.79+4G>C
|
rs2041136967
|
|
NM_000135.4(FANCA):c.79+6T>C
|
|
|
NM_000135.4(FANCA):c.796_797delinsGA (p.Thr266Glu)
|
rs2143585439
|
|
NM_000135.4(FANCA):c.7G>T (p.Asp3Tyr)
|
rs1246636933
|
|
NM_000135.4(FANCA):c.80-10C>A
|
rs771005210
|
|
NM_000135.4(FANCA):c.80-5C>G
|
|
|
NM_000135.4(FANCA):c.80-6C>G
|
rs981258320
|
|
NM_000135.4(FANCA):c.80-8C>G
|
rs749080227
|
|
NM_000135.4(FANCA):c.805G>A (p.Val269Ile)
|
rs1555566973
|
|
NM_000135.4(FANCA):c.808C>T (p.Leu270=)
|
|
|
NM_000135.4(FANCA):c.80C>T (p.Ala27Val)
|
|
|
NM_000135.4(FANCA):c.813G>C (p.Gln271His)
|
rs773057753
|
|
NM_000135.4(FANCA):c.825T>A (p.Ile275=)
|
|
|
NM_000135.4(FANCA):c.826+2T>C
|
rs2143585058
|
|
NM_000135.4(FANCA):c.826+4A>G
|
|
|
NM_000135.4(FANCA):c.827-2A>G
|
rs2040355782
|
|
NM_000135.4(FANCA):c.827-3C>T
|
|
|
NM_000135.4(FANCA):c.827-7T>G
|
rs370344285
|
|
NM_000135.4(FANCA):c.830C>T (p.Ala277Val)
|
rs35880318
|
|
NM_000135.4(FANCA):c.831_848dup (p.Leu278_Ala283dup)
|
rs761967813
|
|
NM_000135.4(FANCA):c.835G>T (p.Asp279Tyr)
|
rs1555566625
|
|
NM_000135.4(FANCA):c.837C>A (p.Asp279Glu)
|
rs752311383
|
|
NM_000135.4(FANCA):c.843G>C (p.Leu281Phe)
|
rs2143581630
|
|
NM_000135.4(FANCA):c.844_845delinsTA (p.Ala282Tyr)
|
rs2143581602
|
|
NM_000135.4(FANCA):c.848C>G (p.Ala283Gly)
|
rs770479721
|
|
NM_000135.4(FANCA):c.851G>C (p.Gly284Ala)
|
rs762079136
|
|
NM_000135.4(FANCA):c.856C>G (p.Gln286Glu)
|
rs1291524243
|
|
NM_000135.4(FANCA):c.869C>G (p.Ser290Cys)
|
rs185984960
|
|
NM_000135.4(FANCA):c.869C>T (p.Ser290Phe)
|
rs185984960
|
|
NM_000135.4(FANCA):c.86G>T (p.Arg29Met)
|
rs764561391
|
|
NM_000135.4(FANCA):c.871A>G (p.Thr291Ala)
|
|
|
NM_000135.4(FANCA):c.874C>T (p.His292Tyr)
|
|
|
NM_000135.4(FANCA):c.877A>G (p.Lys293Glu)
|
|
|
NM_000135.4(FANCA):c.881T>C (p.Ile294Thr)
|
rs1555566545
|
|
NM_000135.4(FANCA):c.887G>C (p.Arg296Thr)
|
rs878853667
|
|
NM_000135.4(FANCA):c.88G>T (p.Val30Phe)
|
rs1160471115
|
|
NM_000135.4(FANCA):c.892T>C (p.Trp298Arg)
|
rs2040352921
|
|
NM_000135.4(FANCA):c.893+4T>C
|
rs2143580838
|
|
NM_000135.4(FANCA):c.893+4T>G
|
rs2143580838
|
|
NM_000135.4(FANCA):c.894-3C>G
|
rs2040234388
|
|
NM_000135.4(FANCA):c.894-3C>T
|
rs2040234388
|
|
NM_000135.4(FANCA):c.894G>T (p.Trp298Cys)
|
|
|
NM_000135.4(FANCA):c.896_897delinsCT (p.Phe299Ser)
|
rs2040234249
|
|
NM_000135.4(FANCA):c.897C>G (p.Phe299Leu)
|
rs765341703
|
|
NM_000135.4(FANCA):c.898G>A (p.Gly300Arg)
|
rs1467900630
|
|
NM_000135.4(FANCA):c.8_28dup (p.Asp3_Ser9dup)
|
rs2143731691
|
|
NM_000135.4(FANCA):c.901G>A (p.Val301Met)
|
rs201134867
|
|
NM_000135.4(FANCA):c.901G>C (p.Val301Leu)
|
|
|
NM_000135.4(FANCA):c.911G>A (p.Gly304Glu)
|
rs745451374
|
|
NM_000135.4(FANCA):c.917C>A (p.Thr306Lys)
|
rs370852532
|
|
NM_000135.4(FANCA):c.917C>G (p.Thr306Arg)
|
rs370852532
|
|
NM_000135.4(FANCA):c.919C>A (p.Leu307Ile)
|
|
|
NM_000135.4(FANCA):c.923G>A (p.Gly308Asp)
|
rs1441102361
|
|
NM_000135.4(FANCA):c.927T>G (p.Ser309Arg)
|
|
|
NM_000135.4(FANCA):c.93G>C (p.Lys31Asn)
|
rs759630319
|
|
NM_000135.4(FANCA):c.943C>A (p.Pro315Thr)
|
|
|
NM_000135.4(FANCA):c.95G>C (p.Arg32Thr)
|
rs770984577
|
|
NM_000135.4(FANCA):c.961A>G (p.Ser321Gly)
|
|
|
NM_000135.4(FANCA):c.962G>A (p.Ser321Asn)
|
|
|
NM_000135.4(FANCA):c.964C>T (p.His322Tyr)
|
rs772768595
|
|
NM_000135.4(FANCA):c.971T>G (p.Leu324Arg)
|
rs1447363475
|
|
NM_000135.4(FANCA):c.976C>G (p.Gln326Glu)
|
|
|
NM_000135.4(FANCA):c.97G>A (p.Glu33Lys)
|
rs2041101017
|
|
NM_000135.4(FANCA):c.980T>A (p.Ile327Lys)
|
rs2143558288
|
|
NM_000135.4(FANCA):c.986C>T (p.Thr329Ile)
|
rs757617469
|
|
NM_000135.4(FANCA):c.988C>G (p.His330Asp)
|
rs753951882
|
|
NM_000135.4(FANCA):c.98A>G (p.Glu33Gly)
|
|
|
NM_000135.4(FANCA):c.994C>A (p.Pro332Thr)
|
rs1056497675
|
|
NM_000135.4(FANCA):c.994C>T (p.Pro332Ser)
|
|
|
NM_000136.3(FANCC):c.*1059A>T
|
rs1044866059
|
|
NM_000136.3(FANCC):c.*1096T>C
|
rs111688138
|
|
NM_000136.3(FANCC):c.*1276C>A
|
rs1057515698
|
|
NM_000136.3(FANCC):c.*1359C>G
|
rs1009336483
|
|
NM_000136.3(FANCC):c.*1515C>T
|
rs2071028910
|
|
NM_000136.3(FANCC):c.*1727T>C
|
rs4647557
|
|
NM_000136.3(FANCC):c.*1895T>G
|
rs56161090
|
|
NM_000136.3(FANCC):c.*2164G>T
|
rs566582636
|
|
NM_000136.3(FANCC):c.*338C>A
|
rs920400068
|
|
NM_000136.3(FANCC):c.*516T>G
|
rs1004604171
|
|
NM_000136.3(FANCC):c.*825C>A
|
rs1057515700
|
|
NM_000136.3(FANCC):c.-172G>T
|
rs1057515706
|
|
NM_000136.3(FANCC):c.-19C>T
|
|
|
NM_000136.3(FANCC):c.-59T>C
|
|
|
NM_000136.3(FANCC):c.-73A>G
|
rs1831191027
|
|
NM_000136.3(FANCC):c.-73A>T
|
rs1831191027
|
|
NM_000136.3(FANCC):c.-78-1G>C
|
rs2136103070
|
|
NM_000136.3(FANCC):c.-78-2A>G
|
rs587779898
|
|
NM_000136.3(FANCC):c.-78-3C>A
|
|
|
NM_000136.3(FANCC):c.-79+1del
|
|
|
NM_000136.3(FANCC):c.-79+2dup
|
rs2136457021
|
|
NM_000136.3(FANCC):c.-8T>C
|
|
|
NM_000136.3(FANCC):c.1006G>T (p.Ala336Ser)
|
rs78555330
|
|
NM_000136.3(FANCC):c.1009C>G (p.Leu337Val)
|
|
|
NM_000136.3(FANCC):c.1009C>T (p.Leu337Phe)
|
rs587779899
|
|
NM_000136.3(FANCC):c.1014G>A (p.Lys338=)
|
rs780776360
|
|
NM_000136.3(FANCC):c.1023T>G (p.Phe341Leu)
|
rs758439579
|
|
NM_000136.3(FANCC):c.1034C>T (p.Ser345Phe)
|
rs1348320350
|
|
NM_000136.3(FANCC):c.104G>A (p.Cys35Tyr)
|
rs143212932
|
|
NM_000136.3(FANCC):c.1065C>A (p.Asp355Glu)
|
rs1588070592
|
|
NM_000136.3(FANCC):c.1067C>A (p.Pro356His)
|
rs1060502517
|
|
NM_000136.3(FANCC):c.1072+3G>C
|
rs2134691883
|
|
NM_000136.3(FANCC):c.1072+5G>A
|
|
|
NM_000136.3(FANCC):c.1079C>G (p.Pro360Arg)
|
rs730881721
|
|
NM_000136.3(FANCC):c.1081C>T (p.Arg361Trp)
|
rs768508859
|
|
NM_000136.3(FANCC):c.1085G>T (p.Gly362Val)
|
rs1246894660
|
|
NM_000136.3(FANCC):c.1087C>G (p.His363Asp)
|
rs2134632030
|
|
NM_000136.3(FANCC):c.1088A>G (p.His363Arg)
|
rs2072244970
|
|
NM_000136.3(FANCC):c.1093C>T (p.Leu365Phe)
|
rs1060502514
|
|
NM_000136.3(FANCC):c.1098G>C (p.Gln366His)
|
rs1564652354
|
|
NM_000136.3(FANCC):c.110A>C (p.His37Pro)
|
rs1564794663
|
|
NM_000136.3(FANCC):c.1112T>C (p.Ile371Thr)
|
rs2072242960
|
|
NM_000136.3(FANCC):c.1129G>A (p.Glu377Lys)
|
rs1588060425
|
|
NM_000136.3(FANCC):c.112G>C (p.Val38Leu)
|
rs778951584
|
|
NM_000136.3(FANCC):c.1131A>C (p.Glu377Asp)
|
rs2134631019
|
|
NM_000136.3(FANCC):c.1132G>A (p.Ala378Thr)
|
rs2134630989
|
|
NM_000136.3(FANCC):c.1136T>C (p.Val379Ala)
|
rs745693332
|
|
NM_000136.3(FANCC):c.1148C>T (p.Thr383Ile)
|
|
|
NM_000136.3(FANCC):c.1154+2dup
|
rs1386979449
|
|
NM_000136.3(FANCC):c.1154G>A (p.Gly385Glu)
|
|
|
NM_000136.3(FANCC):c.1162G>A (p.Gly388Arg)
|
rs371897078
|
|
NM_000136.3(FANCC):c.1166G>A (p.Gly389Asp)
|
rs2071942181
|
|
NM_000136.3(FANCC):c.1194T>G (p.Ile398Met)
|
rs752274299
|
|
NM_000136.3(FANCC):c.1198T>G (p.Phe400Val)
|
rs1480679034
|
|
NM_000136.3(FANCC):c.1207T>C (p.Trp403Arg)
|
rs1554829543
|
|
NM_000136.3(FANCC):c.120G>C (p.Gln40His)
|
rs905858585
|
|
NM_000136.3(FANCC):c.1217T>C (p.Met406Thr)
|
rs1159499581
|
|
NM_000136.3(FANCC):c.1218G>C (p.Met406Ile)
|
rs766086120
|
|
NM_000136.3(FANCC):c.1225G>A (p.Glu409Lys)
|
rs1209529082
|
|
NM_000136.3(FANCC):c.1235T>C (p.Leu412Pro)
|
|
|
NM_000136.3(FANCC):c.1243G>A (p.Ala415Thr)
|
|
|
NM_000136.3(FANCC):c.1244C>A (p.Ala415Glu)
|
rs550462055
|
|
NM_000136.3(FANCC):c.1244C>T (p.Ala415Val)
|
rs550462055
|
|
NM_000136.3(FANCC):c.1252_1253delinsGA (p.Pro418Asp)
|
rs1064795135
|
|
NM_000136.3(FANCC):c.1256C>G (p.Pro419Arg)
|
rs864622514
|
|
NM_000136.3(FANCC):c.1270T>G (p.Trp424Gly)
|
|
|
NM_000136.3(FANCC):c.1274T>C (p.Leu425Pro)
|
rs1588047966
|
|
NM_000136.3(FANCC):c.1283T>G (p.Phe428Cys)
|
rs2134547742
|
|
NM_000136.3(FANCC):c.1283_1285del (p.Phe428del)
|
rs1588047930
|
|
NM_000136.3(FANCC):c.1285TAC[1] (p.Tyr430del)
|
rs1210997135
|
|
NM_000136.3(FANCC):c.1294C>T (p.Pro432Ser)
|
rs2134547266
|
|
NM_000136.3(FANCC):c.1297C>A (p.Arg433Ser)
|
rs369684405
|
|
NM_000136.3(FANCC):c.1300G>A (p.Asp434Asn)
|
rs864622522
|
|
NM_000136.3(FANCC):c.1300G>C (p.Asp434His)
|
|
|
NM_000136.3(FANCC):c.1301A>G (p.Asp434Gly)
|
rs2134547041
|
|
NM_000136.3(FANCC):c.1307G>A (p.Arg436Lys)
|
rs201549126
|
|
NM_000136.3(FANCC):c.131T>C (p.Phe44Ser)
|
rs1588353402
|
|
NM_000136.3(FANCC):c.1329+115C>T
|
rs2071912393
|
|
NM_000136.3(FANCC):c.1329+134del
|
rs1554829392
|
|
NM_000136.3(FANCC):c.1329+157C>T
|
rs1554829380
|
|
NM_000136.3(FANCC):c.1329+166_1329+168del
|
rs1554829374
|
|
NM_000136.3(FANCC):c.1329+169C>T
|
rs1554829373
|
|
NM_000136.3(FANCC):c.1329+265T>G
|
rs1554829329
|
|
NM_000136.3(FANCC):c.1329+5del
|
rs878853670
|
|
NM_000136.3(FANCC):c.1329G>A (p.Met443Ile)
|
rs772133680
|
|
NM_000136.3(FANCC):c.1330-10T>C
|
rs1386511892
|
|
NM_000136.3(FANCC):c.1330-8T>C
|
rs864622221
|
|
NM_000136.3(FANCC):c.1330G>A (p.Val444Ile)
|
rs1554828492
|
|
NM_000136.3(FANCC):c.1346T>C (p.Val449Ala)
|
rs2134456617
|
|
NM_000136.3(FANCC):c.134T>G (p.Leu45Arg)
|
rs2136100589
|
|
NM_000136.3(FANCC):c.1355_1358delinsGCCA (p.His452_Leu453delinsArgHis)
|
rs1064793615
|
|
NM_000136.3(FANCC):c.1357C>T (p.Leu453Phe)
|
rs1064793901
|
|
NM_000136.3(FANCC):c.1358T>C (p.Leu453Pro)
|
|
|
NM_000136.3(FANCC):c.1361T>C (p.Leu454Pro)
|
rs1554828451
|
|
NM_000136.3(FANCC):c.1364C>T (p.Ala455Val)
|
rs2071516903
|
|
NM_000136.3(FANCC):c.1368G>T (p.Met456Ile)
|
rs863224609
|
|
NM_000136.3(FANCC):c.1375A>G (p.Ser459Gly)
|
|
|
NM_000136.3(FANCC):c.1388C>T (p.Ser463Leu)
|
rs1588029402
|
|
NM_000136.3(FANCC):c.1399C>G (p.Leu467Val)
|
rs1554828405
|
|
NM_000136.3(FANCC):c.140A>C (p.Lys47Thr)
|
rs1588353368
|
|
NM_000136.3(FANCC):c.140A>G (p.Lys47Arg)
|
rs1588353368
|
|
NM_000136.3(FANCC):c.1418A>G (p.Gln473Arg)
|
rs1588029264
|
|
NM_000136.3(FANCC):c.141G>T (p.Lys47Asn)
|
|
|
NM_000136.3(FANCC):c.1427A>G (p.Asp476Gly)
|
rs1375711161
|
|
NM_000136.3(FANCC):c.1444_1446del (p.Pro482del)
|
rs773270231
|
|
NM_000136.3(FANCC):c.1450C>A (p.Gln484Lys)
|
rs764271678
|
|
NM_000136.3(FANCC):c.1456C>A (p.Leu486Met)
|
|
|
NM_000136.3(FANCC):c.1457T>C (p.Leu486Pro)
|
rs753031127
|
|
NM_000136.3(FANCC):c.1461C>G (p.Ile487Met)
|
rs2134455188
|
|
NM_000136.3(FANCC):c.1471C>G (p.Leu491Val)
|
|
|
NM_000136.3(FANCC):c.1471CTC[1] (p.Leu492del)
|
rs2071510744
|
|
NM_000136.3(FANCC):c.1478A>G (p.Asn493Ser)
|
|
|
NM_000136.3(FANCC):c.1486C>T (p.Leu496Phe)
|
|
|
NM_000136.3(FANCC):c.1495C>T (p.Pro499Ser)
|
rs1564641164
|
|
NM_000136.3(FANCC):c.14C>T (p.Ser5Leu)
|
rs1831182314
|
|
NM_000136.3(FANCC):c.1501G>A (p.Gly501Ser)
|
rs746540247
|
|
NM_000136.3(FANCC):c.1502G>A (p.Gly501Asp)
|
rs536599109
|
|
NM_000136.3(FANCC):c.1502G>T (p.Gly501Val)
|
rs536599109
|
|
NM_000136.3(FANCC):c.1504C>T (p.His502Tyr)
|
|
|
NM_000136.3(FANCC):c.1513G>T (p.Ala505Ser)
|
rs780179187
|
|
NM_000136.3(FANCC):c.1518G>C (p.Trp506Cys)
|
rs1554828332
|
|
NM_000136.3(FANCC):c.1520A>T (p.Asp507Val)
|
|
|
NM_000136.3(FANCC):c.1529C>A (p.Thr510Asn)
|
rs1233501553
|
|
NM_000136.3(FANCC):c.1532T>C (p.Leu511Pro)
|
rs1554828313
|
|
NM_000136.3(FANCC):c.1533+5G>A
|
rs1588028749
|
|
NM_000136.3(FANCC):c.1533+6T>A
|
rs2071505631
|
|
NM_000136.3(FANCC):c.1533G>C (p.Leu511=)
|
rs2071506268
|
|
NM_000136.3(FANCC):c.1534-5T>G
|
rs730881727
|
|
NM_000136.3(FANCC):c.1534-8G>A
|
rs2071090579
|
|
NM_000136.3(FANCC):c.1542C>G (p.His514Gln)
|
|
|
NM_000136.3(FANCC):c.1546G>A (p.Ala516Thr)
|
|
|
NM_000136.3(FANCC):c.1551G>C (p.Glu517Asp)
|
rs1588008452
|
|
NM_000136.3(FANCC):c.1560C>G (p.His520Gln)
|
rs150020474
|
|
NM_000136.3(FANCC):c.1563G>C (p.Glu521Asp)
|
rs2071088182
|
|
NM_000136.3(FANCC):c.156G>C (p.Leu52Phe)
|
rs1060502518
|
|
NM_000136.3(FANCC):c.1573T>C (p.Phe525Leu)
|
rs971409322
|
|
NM_000136.3(FANCC):c.1585A>C (p.Thr529Pro)
|
rs587778326
|
|
NM_000136.3(FANCC):c.1596A>G (p.Arg532=)
|
rs1588008241
|
|
NM_000136.3(FANCC):c.1597T>G (p.Trp533Gly)
|
rs730881728
|
|
NM_000136.3(FANCC):c.1609G>T (p.Gly537Cys)
|
|
|
NM_000136.3(FANCC):c.1610G>T (p.Gly537Val)
|
|
|
NM_000136.3(FANCC):c.1615G>A (p.Glu539Lys)
|
rs2071085287
|
|
NM_000136.3(FANCC):c.1618A>C (p.Ser540Arg)
|
rs1588008112
|
|
NM_000136.3(FANCC):c.1621C>T (p.Pro541Ser)
|
rs2071084988
|
|
NM_000136.3(FANCC):c.1625G>A (p.Arg542Lys)
|
rs1588008066
|
|
NM_000136.3(FANCC):c.1627T>C (p.Ser543Pro)
|
rs1303872874
|
|
NM_000136.3(FANCC):c.1627_1628delinsAA (p.Ser543Lys)
|
rs864622417
|
|
NM_000136.3(FANCC):c.1628C>T (p.Ser543Leu)
|
|
|
NM_000136.3(FANCC):c.1631A>G (p.Glu544Gly)
|
|
|
NM_000136.3(FANCC):c.1636C>G (p.Leu546Val)
|
rs2071083777
|
|
NM_000136.3(FANCC):c.1640C>T (p.Ala547Val)
|
rs2071083482
|
|
NM_000136.3(FANCC):c.1641_1658dup (p.Lys552_Glu553insAspArgGluLeuLeuLys)
|
rs1588007941
|
|
NM_000136.3(FANCC):c.1643G>T (p.Arg548Leu)
|
|
|
NM_000136.3(FANCC):c.1645G>C (p.Glu549Gln)
|
|
|
NM_000136.3(FANCC):c.164T>C (p.Met55Thr)
|
rs1060502513
|
|
NM_000136.3(FANCC):c.165+5G>T
|
|
|
NM_000136.3(FANCC):c.1654A>C (p.Lys552Gln)
|
rs2071082816
|
|
NM_000136.3(FANCC):c.1655A>G (p.Lys552Arg)
|
rs1197938479
|
|
NM_000136.3(FANCC):c.165G>T (p.Met55Ile)
|
|
|
NM_000136.3(FANCC):c.166-3C>T
|
rs1554857868
|
|
NM_000136.3(FANCC):c.1663C>T (p.Arg555Ter)
|
rs370974124
|
|
NM_000136.3(FANCC):c.1669C>G (p.Gln557Glu)
|
rs863224610
|
|
NM_000136.3(FANCC):c.166G>T (p.Asp56Tyr)
|
|
|
NM_000136.3(FANCC):c.1670_1674dup (p.Ter559LysextTer?)
|
rs1554827101
|
|
NM_000136.3(FANCC):c.167A>T (p.Asp56Val)
|
rs759662786
|
|
NM_000136.3(FANCC):c.169T>G (p.Ser57Ala)
|
|
|
NM_000136.3(FANCC):c.173A>G (p.Asn58Ser)
|
rs1831061339
|
|
NM_000136.3(FANCC):c.17T>G (p.Val6Gly)
|
rs527289778
|
|
NM_000136.3(FANCC):c.188G>C (p.Arg63Thr)
|
rs1588350373
|
|
NM_000136.3(FANCC):c.189A>T (p.Arg63Ser)
|
rs773388565
|
|
NM_000136.3(FANCC):c.197C>T (p.Thr66Ile)
|
rs762234072
|
|
NM_000136.3(FANCC):c.202G>A (p.Gly68Ser)
|
rs777111154
|
|
NM_000136.3(FANCC):c.213G>T (p.Leu71Phe)
|
rs2136091002
|
|
NM_000136.3(FANCC):c.214G>A (p.Ala72Thr)
|
rs567465885
|
|
NM_000136.3(FANCC):c.214G>T (p.Ala72Ser)
|
rs567465885
|
|
NM_000136.3(FANCC):c.21T>A (p.Asp7Glu)
|
|
|
NM_000136.3(FANCC):c.228G>T (p.Trp76Cys)
|
rs876661132
|
|
NM_000136.3(FANCC):c.232C>G (p.Pro78Ala)
|
rs2136090802
|
|
NM_000136.3(FANCC):c.23T>C (p.Leu8Pro)
|
rs752249253
|
|
NM_000136.3(FANCC):c.246A>G (p.Ala82=)
|
rs1554857810
|
|
NM_000136.3(FANCC):c.254A>G (p.Glu85Gly)
|
|
|
NM_000136.3(FANCC):c.266T>G (p.Ile89Ser)
|
rs2136049598
|
|
NM_000136.3(FANCC):c.268C>A (p.Leu90Ile)
|
rs2136049561
|
|
NM_000136.3(FANCC):c.273A>G (p.Ile91Met)
|
|
|
NM_000136.3(FANCC):c.287G>T (p.Cys96Phe)
|
|
|
NM_000136.3(FANCC):c.292A>G (p.Ile98Val)
|
|
|
NM_000136.3(FANCC):c.293T>C (p.Ile98Thr)
|
rs1830583670
|
|
NM_000136.3(FANCC):c.328C>G (p.Leu110Val)
|
rs1554856102
|
|
NM_000136.3(FANCC):c.328C>T (p.Leu110Phe)
|
|
|
NM_000136.3(FANCC):c.340A>G (p.Ile114Val)
|
rs1830580247
|
|
NM_000136.3(FANCC):c.340A>T (p.Ile114Leu)
|
rs1830580247
|
|
NM_000136.3(FANCC):c.345+3A>G
|
|
|
NM_000136.3(FANCC):c.345+4AG[2]
|
rs755657969
|
|
NM_000136.3(FANCC):c.346G>C (p.Gly116Arg)
|
rs1440493340
|
|
NM_000136.3(FANCC):c.349_360del (p.Val117_His120del)
|
rs1825723799
|
|
NM_000136.3(FANCC):c.34T>G (p.Tyr12Asp)
|
rs766173332
|
|
NM_000136.3(FANCC):c.34_36del (p.Tyr12del)
|
rs1554858333
|
|
NM_000136.3(FANCC):c.355T>C (p.Ser119Pro)
|
|
|
NM_000136.3(FANCC):c.35A>G (p.Tyr12Cys)
|
rs762884109
|
|
NM_000136.3(FANCC):c.371C>T (p.Ala124Val)
|
rs374602991
|
|
NM_000136.3(FANCC):c.374T>C (p.Leu125Pro)
|
rs2135588560
|
|
NM_000136.3(FANCC):c.38A>G (p.Gln13Arg)
|
rs199968672
|
|
NM_000136.3(FANCC):c.390A>T (p.Glu130Asp)
|
rs1419677503
|
|
NM_000136.3(FANCC):c.391G>A (p.Val131Ile)
|
rs543546719
|
|
NM_000136.3(FANCC):c.3G>A (p.Met1Ile)
|
rs1368374192
|
|
NM_000136.3(FANCC):c.406C>G (p.Gln136Glu)
|
|
|
NM_000136.3(FANCC):c.413T>G (p.Leu138Arg)
|
rs1564720454
|
|
NM_000136.3(FANCC):c.422C>T (p.Ala141Val)
|
rs2135587894
|
|
NM_000136.3(FANCC):c.424C>G (p.Pro142Ala)
|
rs864622581
|
|
NM_000136.3(FANCC):c.425C>A (p.Pro142His)
|
rs1064793605
|
|
NM_000136.3(FANCC):c.430G>T (p.Asp144Tyr)
|
rs2135587786
|
|
NM_000136.3(FANCC):c.432T>G (p.Asp144Glu)
|
rs1825715851
|
|
NM_000136.3(FANCC):c.433T>C (p.Tyr145His)
|
rs751054264
|
|
NM_000136.3(FANCC):c.437A>C (p.Tyr146Ser)
|
rs1564720359
|
|
NM_000136.3(FANCC):c.439C>A (p.Pro147Thr)
|
rs1564720334
|
|
NM_000136.3(FANCC):c.439C>G (p.Pro147Ala)
|
|
|
NM_000136.3(FANCC):c.456+6T>C
|
|
|
NM_000136.3(FANCC):c.457-10del
|
rs763416214
|
|
NM_000136.3(FANCC):c.457-16T>A
|
|
|
NM_000136.3(FANCC):c.460G>C (p.Val154Leu)
|
|
|
NM_000136.3(FANCC):c.469T>A (p.Leu157Ile)
|
rs1825652301
|
|
NM_000136.3(FANCC):c.470T>C (p.Leu157Ser)
|
rs200828924
|
|
NM_000136.3(FANCC):c.485G>C (p.Arg162Thr)
|
rs1825650685
|
|
NM_000136.3(FANCC):c.491A>T (p.Asn164Ile)
|
rs950623649
|
|
NM_000136.3(FANCC):c.494A>G (p.His165Arg)
|
|
|
NM_000136.3(FANCC):c.509A>G (p.Asn170Ser)
|
rs749322338
|
|
NM_000136.3(FANCC):c.511A>C (p.Thr171Pro)
|
|
|
NM_000136.3(FANCC):c.511A>G (p.Thr171Ala)
|
rs1554842592
|
|
NM_000136.3(FANCC):c.514C>G (p.Gln172Glu)
|
rs769998628
|
|
NM_000136.3(FANCC):c.516A>G (p.Gln172=)
|
rs748322179
|
|
NM_000136.3(FANCC):c.521+5G>A
|
rs1301899973
|
|
NM_000136.3(FANCC):c.521+5del
|
rs2135578132
|
|
NM_000136.3(FANCC):c.522-16_522-14del
|
|
|
NM_000136.3(FANCC):c.523A>G (p.Met175Val)
|
rs876661083
|
|
NM_000136.3(FANCC):c.529C>T (p.Pro177Ser)
|
|
|
NM_000136.3(FANCC):c.534G>C (p.Glu178Asp)
|
rs776694218
|
|
NM_000136.3(FANCC):c.53A>C (p.Lys18Thr)
|
rs2136101612
|
|
NM_000136.3(FANCC):c.540_557del (p.Ala181_Val186del)
|
|
|
NM_000136.3(FANCC):c.547C>G (p.Leu183Val)
|
|
|
NM_000136.3(FANCC):c.556G>A (p.Val186Ile)
|
rs730881713
|
|
NM_000136.3(FANCC):c.558_563del (p.Cys187_Val188del)
|
rs1554838595
|
|
NM_000136.3(FANCC):c.560G>A (p.Cys187Tyr)
|
rs1239389302
|
|
NM_000136.3(FANCC):c.565C>A (p.Pro189Thr)
|
rs377620735
|
|
NM_000136.3(FANCC):c.568C>T (p.Leu190Phe)
|
rs1800364
|
|
NM_000136.3(FANCC):c.576C>G (p.Thr192=)
|
|
|
NM_000136.3(FANCC):c.584A>G (p.Asp195Gly)
|
rs1800365
|
|
NM_000136.3(FANCC):c.585T>G (p.Asp195Glu)
|
rs2135427899
|
|
NM_000136.3(FANCC):c.586G>A (p.Val196Ile)
|
|
|
NM_000136.3(FANCC):c.590A>T (p.Asp197Val)
|
rs1064793625
|
|
NM_000136.3(FANCC):c.591C>A (p.Asp197Glu)
|
|
|
NM_000136.3(FANCC):c.591C>G (p.Asp197Glu)
|
rs1457631500
|
|
NM_000136.3(FANCC):c.592C>A (p.Pro198Thr)
|
|
|
NM_000136.3(FANCC):c.596T>C (p.Leu199Pro)
|
rs143213659
|
|
NM_000136.3(FANCC):c.599T>A (p.Val200Glu)
|
rs2135427579
|
|
NM_000136.3(FANCC):c.603G>T (p.Glu201Asp)
|
rs1060502516
|
|
NM_000136.3(FANCC):c.607C>T (p.Leu203Phe)
|
rs878853672
|
|
NM_000136.3(FANCC):c.610C>T (p.Leu204Phe)
|
rs1830064754
|
|
NM_000136.3(FANCC):c.61G>C (p.Val21Leu)
|
rs772386467
|
|
NM_000136.3(FANCC):c.632C>T (p.Pro211Leu)
|
rs140781259
|
|
NM_000136.3(FANCC):c.641T>A (p.Ile214Asn)
|
|
|
NM_000136.3(FANCC):c.643C>T (p.Leu215Phe)
|
rs1269365165
|
|
NM_000136.3(FANCC):c.659T>G (p.Phe220Cys)
|
rs1012529150
|
|
NM_000136.3(FANCC):c.665C>A (p.Ala222Asp)
|
rs1830058618
|
|
NM_000136.3(FANCC):c.673G>A (p.Glu225Lys)
|
rs374176091
|
|
NM_000136.3(FANCC):c.676G>A (p.Ala226Thr)
|
|
|
NM_000136.3(FANCC):c.677C>T (p.Ala226Val)
|
rs1166491683
|
|
NM_000136.3(FANCC):c.683T>C (p.Leu228Ser)
|
rs2135426128
|
|
NM_000136.3(FANCC):c.686+5G>A
|
rs1064794691
|
|
NM_000136.3(FANCC):c.686T>G (p.Leu229Arg)
|
|
|
NM_000136.3(FANCC):c.687G>A (p.Leu229=)
|
rs864622527
|
|
NM_000136.3(FANCC):c.689AGA[1] (p.Lys231del)
|
rs3831244
|
|
NM_000136.3(FANCC):c.700C>G (p.Leu234Val)
|
rs1827537458
|
|
NM_000136.3(FANCC):c.704C>G (p.Pro235Arg)
|
|
|
NM_000136.3(FANCC):c.706A>C (p.Met236Leu)
|
rs771319430
|
|
NM_000136.3(FANCC):c.707T>C (p.Met236Thr)
|
|
|
NM_000136.3(FANCC):c.718G>A (p.Val240Ile)
|
rs866787972
|
|
NM_000136.3(FANCC):c.733C>G (p.Arg245Gly)
|
|
|
NM_000136.3(FANCC):c.742C>T (p.Pro248Ser)
|
|
|
NM_000136.3(FANCC):c.743C>G (p.Pro248Arg)
|
|
|
NM_000136.3(FANCC):c.748C>T (p.Leu250Phe)
|
rs778966663
|
|
NM_000136.3(FANCC):c.749T>C (p.Leu250Pro)
|
rs1827530053
|
|
NM_000136.3(FANCC):c.760A>G (p.Met254Val)
|
rs757294568
|
|
NM_000136.3(FANCC):c.764T>C (p.Leu255Pro)
|
rs767634640
|
|
NM_000136.3(FANCC):c.773T>C (p.Phe258Ser)
|
|
|
NM_000136.3(FANCC):c.778A>G (p.Lys260Glu)
|
rs1282238372
|
|
NM_000136.3(FANCC):c.797G>A (p.Arg266Lys)
|
|
|
NM_000136.3(FANCC):c.803G>A (p.Cys268Tyr)
|
rs2135165898
|
|
NM_000136.3(FANCC):c.80C>G (p.Thr27Ser)
|
rs1489419613
|
|
NM_000136.3(FANCC):c.80C>T (p.Thr27Ile)
|
rs1489419613
|
|
NM_000136.3(FANCC):c.811A>G (p.Arg271Gly)
|
rs2135165709
|
|
NM_000136.3(FANCC):c.812G>C (p.Arg271Thr)
|
|
|
NM_000136.3(FANCC):c.813G>T (p.Arg271Ser)
|
rs2135165634
|
|
NM_000136.3(FANCC):c.814A>G (p.Ile272Val)
|
|
|
NM_000136.3(FANCC):c.815T>G (p.Ile272Ser)
|
rs1827523728
|
|
NM_000136.3(FANCC):c.816C>G (p.Ile272Met)
|
rs55719336
|
|
NM_000136.3(FANCC):c.820T>A (p.Cys274Ser)
|
rs1040503080
|
|
NM_000136.3(FANCC):c.821G>T (p.Cys274Phe)
|
rs2135165383
|
|
NM_000136.3(FANCC):c.827T>C (p.Ile276Thr)
|
|
|
NM_000136.3(FANCC):c.838T>C (p.Ser280Pro)
|
rs1588134159
|
|
NM_000136.3(FANCC):c.843+5G>T
|
rs369082921
|
|
NM_000136.3(FANCC):c.844-10_844-8del
|
rs758617953
|
|
NM_000136.3(FANCC):c.844-6T>G
|
rs1417324884
|
|
NM_000136.3(FANCC):c.847C>A (p.Gln283Lys)
|
rs1564667865
|
|
NM_000136.3(FANCC):c.849A>G (p.Gln283=)
|
rs2134968632
|
|
NM_000136.3(FANCC):c.854C>G (p.Ala285Gly)
|
|
|
NM_000136.3(FANCC):c.857G>A (p.Cys286Tyr)
|
|
|
NM_000136.3(FANCC):c.862C>T (p.Pro288Ser)
|
rs1588106749
|
|
NM_000136.3(FANCC):c.866C>T (p.Ala289Val)
|
rs777732881
|
|
NM_000136.3(FANCC):c.874C>T (p.Arg292Trp)
|
rs1306075116
|
|
NM_000136.3(FANCC):c.875G>C (p.Arg292Pro)
|
rs747060782
|
|
NM_000136.3(FANCC):c.880G>A (p.Val294Ile)
|
|
|
NM_000136.3(FANCC):c.887A>G (p.Glu296Gly)
|
rs2134967462
|
|
NM_000136.3(FANCC):c.891G>T (p.Met297Ile)
|
rs1554833192
|
|
NM_000136.3(FANCC):c.896+5A>T
|
rs1826005529
|
|
NM_000136.3(FANCC):c.897-12T>G
|
|
|
NM_000136.3(FANCC):c.897G>A (p.Arg299=)
|
rs759083348
|
|
NM_000136.3(FANCC):c.897G>C (p.Arg299Ser)
|
|
|
NM_000136.3(FANCC):c.8_9del (p.Gln3fs)
|
rs1831183107
|
|
NM_000136.3(FANCC):c.900T>G (p.Cys300Trp)
|
rs2134924997
|
|
NM_000136.3(FANCC):c.901G>A (p.Ala301Thr)
|
rs972738983
|
|
NM_000136.3(FANCC):c.902C>T (p.Ala301Val)
|
rs553689536
|
|
NM_000136.3(FANCC):c.911A>C (p.Glu304Ala)
|
|
|
NM_000136.3(FANCC):c.913A>G (p.Thr305Ala)
|
rs1397912085
|
|
NM_000136.3(FANCC):c.918T>G (p.Asp306Glu)
|
rs1564665867
|
|
NM_000136.3(FANCC):c.922G>A (p.Ala308Thr)
|
|
|
NM_000136.3(FANCC):c.938C>T (p.Ala313Val)
|
rs730881712
|
|
NM_000136.3(FANCC):c.941_943dup (p.Thr314dup)
|
rs1554832862
|
|
NM_000136.3(FANCC):c.948G>C (p.Gln316His)
|
rs1554832851
|
|
NM_000136.3(FANCC):c.956C>A (p.Thr319Lys)
|
|
|
NM_000136.3(FANCC):c.967G>A (p.Val323Ile)
|
rs730881720
|
|
NM_000136.3(FANCC):c.972A>C (p.Glu324Asp)
|
rs1261385032
|
|
NM_000136.3(FANCC):c.990C>A (p.Ser330Arg)
|
rs374915316
|
|
NM_000136.3(FANCC):c.992A>G (p.Lys331Arg)
|
rs756408779
|
|
NM_000136.3(FANCC):c.995A>G (p.Gln332Arg)
|
rs781746980
|
|
NM_000136.3(FANCC):c.996+9T>A
|
rs757984397
|
|
NM_000136.3(FANCC):c.997-3C>T
|
rs878853674
|
|
NM_000175.5(GPI):c.1022A>G (p.Tyr341Cys)
|
|
|
NM_000175.5(GPI):c.1081G>A (p.Gly361Arg)
|
|
|
NM_000175.5(GPI):c.1094C>T (p.Thr365Ile)
|
|
|
NM_000175.5(GPI):c.1238A>G (p.Gln413Arg)
|
|
|
NM_000175.5(GPI):c.1366C>G (p.Pro456Ala)
|
|
|
NM_000175.5(GPI):c.1594A>G (p.Ser532Gly)
|
|
|
NM_000175.5(GPI):c.1595G>C (p.Ser532Thr)
|
rs139035514
|
|
NM_000175.5(GPI):c.1614C>G (p.His538Gln)
|
rs537943038
|
|
NM_000175.5(GPI):c.1640A>G (p.Asn547Ser)
|
|
|
NM_000175.5(GPI):c.16C>T (p.Arg6Trp)
|
|
|
NM_000175.5(GPI):c.190G>A (p.Val64Met)
|
|
|
NM_000175.5(GPI):c.241C>T (p.Arg81Trp)
|
|
|
NM_000175.5(GPI):c.287G>A (p.Arg96Gln)
|
|
|
NM_000175.5(GPI):c.413G>A (p.Ser138Asn)
|
|
|
NM_000175.5(GPI):c.418G>A (p.Asp140Asn)
|
|
|
NM_000175.5(GPI):c.557A>G (p.Asn186Ser)
|
|
|
NM_000175.5(GPI):c.637T>A (p.Phe213Ile)
|
rs2145365520
|
|
NM_000175.5(GPI):c.695C>T (p.Ala232Val)
|
|
|
NM_000175.5(GPI):c.719C>T (p.Ala240Val)
|
|
|
NM_000175.5(GPI):c.805T>C (p.Trp269Arg)
|
|
|
NM_000175.5(GPI):c.833C>T (p.Ser278Leu)
|
|
|
NM_000175.5(GPI):c.851T>C (p.Ile284Thr)
|
|
|
NM_000175.5(GPI):c.885G>T (p.Gln295His)
|
|
|
NM_000175.5(GPI):c.892T>G (p.Ser298Ala)
|
|
|
NM_000175.5(GPI):c.91G>C (p.Asp31His)
|
|
|
NM_000175.5(GPI):c.926C>T (p.Thr309Met)
|
|
|
NM_000186.4(CFH):c.*127G>T
|
rs369221006
|
|
NM_000186.4(CFH):c.-61A>G
|
rs886045741
|
|
NM_000186.4(CFH):c.103G>A (p.Gly35Ser)
|
rs886045742
|
|
NM_000186.4(CFH):c.1159+4A>T
|
|
|
NM_000186.4(CFH):c.1336+4A>G
|
rs1573028051
|
|
NM_000186.4(CFH):c.1451C>T (p.Ala484Val)
|
rs1668781638
|
|
NM_000186.4(CFH):c.1511C>T (p.Thr504Met)
|
rs377008918
|
|
NM_000186.4(CFH):c.1616G>T (p.Gly539Val)
|
rs1027258331
|
|
NM_000186.4(CFH):c.1699A>G (p.Arg567Gly)
|
rs757756991
|
|
NM_000186.4(CFH):c.1795C>A (p.Pro599Thr)
|
|
|
NM_000186.4(CFH):c.1984A>G (p.Arg662Gly)
|
rs760174473
|
|
NM_000186.4(CFH):c.2030A>G (p.Glu677Gly)
|
|
|
NM_000186.4(CFH):c.2054T>C (p.Ile685Thr)
|
rs1431491220
|
|
NM_000186.4(CFH):c.2072G>C (p.Cys691Ser)
|
rs2149108610
|
|
NM_000186.4(CFH):c.2215A>G (p.Thr739Ala)
|
rs886045745
|
|
NM_000186.4(CFH):c.275C>T (p.Pro92Leu)
|
rs886045743
|
|
NM_000186.4(CFH):c.2763T>C (p.Ser921=)
|
rs1212658402
|
|
NM_000186.4(CFH):c.2794A>C (p.Lys932Gln)
|
rs1573079762
|
|
NM_000186.4(CFH):c.284C>A (p.Thr95Asn)
|
|
|
NM_000186.4(CFH):c.3104G>A (p.Ser1035Asn)
|
|
|
NM_000186.4(CFH):c.3118A>G (p.Arg1040Gly)
|
|
|
NM_000186.4(CFH):c.3134-5T>C
|
rs513699
|
|
NM_000186.4(CFH):c.3152C>T (p.Pro1051Leu)
|
|
|
NM_000186.4(CFH):c.3169G>A (p.Ala1057Thr)
|
rs1652885970
|
|
NM_000186.4(CFH):c.320G>T (p.Gly107Val)
|
|
|
NM_000186.4(CFH):c.3306C>G (p.Cys1102Trp)
|
|
|
NM_000186.4(CFH):c.3446G>A (p.Arg1149Gln)
|
rs1064795727
|
|
NM_000186.4(CFH):c.3449T>G (p.Ile1150Arg)
|
rs2149118066
|
|
NM_000186.4(CFH):c.3493C>T (p.His1165Tyr)
|
|
|
NM_000186.4(CFH):c.497G>A (p.Arg166Gln)
|
rs770339409
|
|
NM_000186.4(CFH):c.497G>T (p.Arg166Leu)
|
rs770339409
|
|
NM_000186.4(CFH):c.59-10T>G
|
rs1573008794
|
|
NM_000186.4(CFH):c.672G>T (p.Lys224Asn)
|
rs1408473510
|
|
NM_000186.4(CFH):c.773C>T (p.Pro258Leu)
|
|
|
NM_000186.4(CFH):c.7C>G (p.Leu3Val)
|
rs139254423
|
|
NM_000188.3(HK1):c.2498T>C (p.Leu833Pro)
|
|
|
NM_000253.4(MTTP):c.-149C>A
|
rs886058955
|
|
NM_000254.3(MTR):c.1020T>G (p.Asn340Lys)
|
rs1322031909
|
|
NM_000254.3(MTR):c.1027C>G (p.Pro343Ala)
|
|
|
NM_000254.3(MTR):c.1040C>T (p.Pro347Leu)
|
|
|
NM_000254.3(MTR):c.1174G>A (p.Ala392Thr)
|
|
|
NM_000254.3(MTR):c.1247A>G (p.Asn416Ser)
|
|
|
NM_000254.3(MTR):c.1251G>T (p.Met417Ile)
|
rs2103148829
|
|
NM_000254.3(MTR):c.1271G>A (p.Gly424Asp)
|
rs2103149012
|
|
NM_000254.3(MTR):c.128G>A (p.Arg43Gln)
|
rs143088011
|
|
NM_000254.3(MTR):c.128_129delinsTT (p.Arg43Leu)
|
rs1660806761
|
|
NM_000254.3(MTR):c.1325C>A (p.Ala442Glu)
|
rs770004849
|
|
NM_000254.3(MTR):c.1348_1349inv (p.Ser450Asp)
|
|
|
NM_000254.3(MTR):c.1394G>A (p.Gly465Glu)
|
|
|
NM_000254.3(MTR):c.1409A>G (p.Asn470Ser)
|
rs2103166386
|
|
NM_000254.3(MTR):c.1522G>C (p.Glu508Gln)
|
rs1572261571
|
|
NM_000254.3(MTR):c.1544T>G (p.Val515Gly)
|
rs1663828645
|
|
NM_000254.3(MTR):c.1549A>G (p.Thr517Ala)
|
|
|
NM_000254.3(MTR):c.1549A>T (p.Thr517Ser)
|
|
|
NM_000254.3(MTR):c.1575A>T (p.Lys525Asn)
|
rs199700767
|
|
NM_000254.3(MTR):c.1615A>G (p.Asn539Asp)
|
|
|
NM_000254.3(MTR):c.1695+6T>C
|
|
|
NM_000254.3(MTR):c.1712C>G (p.Ala571Gly)
|
|
|
NM_000254.3(MTR):c.1871A>C (p.His624Pro)
|
|
|
NM_000254.3(MTR):c.1892G>C (p.Cys631Ser)
|
|
|
NM_000254.3(MTR):c.194G>A (p.Gly65Asp)
|
|
|
NM_000254.3(MTR):c.1953+3A>G
|
rs781246271
|
|
NM_000254.3(MTR):c.1969G>C (p.Gly657Arg)
|
rs1664416870
|
|
NM_000254.3(MTR):c.1986G>T (p.Gln662His)
|
rs1664418343
|
|
NM_000254.3(MTR):c.1992T>A (p.Asp664Glu)
|
|
|
NM_000254.3(MTR):c.2020C>A (p.Arg674Ser)
|
rs150058137
|
|
NM_000254.3(MTR):c.2044-1G>T
|
|
|
NM_000254.3(MTR):c.2045G>A (p.Gly682Asp)
|
|
|
NM_000254.3(MTR):c.2104C>A (p.Pro702Thr)
|
|
|
NM_000254.3(MTR):c.2108G>A (p.Arg703Gln)
|
|
|
NM_000254.3(MTR):c.2119A>G (p.Ile707Val)
|
|
|
NM_000254.3(MTR):c.2165T>C (p.Leu722Pro)
|
rs1553321807
|
|
NM_000254.3(MTR):c.2180A>G (p.Lys727Arg)
|
|
|
NM_000254.3(MTR):c.2196+5G>A
|
rs2103301889
|
|
NM_000254.3(MTR):c.2200A>G (p.Ile734Val)
|
|
|
NM_000254.3(MTR):c.2213G>A (p.Arg738Gln)
|
|
|
NM_000254.3(MTR):c.2221A>G (p.Lys741Glu)
|
|
|
NM_000254.3(MTR):c.2242A>G (p.Ile748Val)
|
|
|
NM_000254.3(MTR):c.2249T>C (p.Phe750Ser)
|
rs1664588529
|
|
NM_000254.3(MTR):c.2282T>A (p.Leu761His)
|
rs1664590593
|
|
NM_000254.3(MTR):c.2299G>C (p.Glu767Gln)
|
|
|
NM_000254.3(MTR):c.2304+3A>C
|
rs1572283994
|
|
NM_000254.3(MTR):c.2308C>G (p.Pro770Ala)
|
rs968363996
|
|
NM_000254.3(MTR):c.2333C>T (p.Ala778Val)
|
rs2103313543
|
|
NM_000254.3(MTR):c.2347G>A (p.Asp783Asn)
|
|
|
NM_000254.3(MTR):c.2356G>A (p.Asp786Asn)
|
|
|
NM_000254.3(MTR):c.2395A>G (p.Asn799Asp)
|
|
|
NM_000254.3(MTR):c.2405G>A (p.Arg802Gln)
|
rs760932771
|
|
NM_000254.3(MTR):c.2472A>T (p.Ala824=)
|
rs1665277178
|
|
NM_000254.3(MTR):c.2531C>T (p.Ala844Val)
|
|
|
NM_000254.3(MTR):c.2546G>C (p.Arg849Thr)
|
rs2147881808
|
|
NM_000254.3(MTR):c.2594+1_2594+36dup
|
|
|
NM_000254.3(MTR):c.2594+5G>A
|
|
|
NM_000254.3(MTR):c.2640_2642del (p.Ile881del)
|
rs797044443
|
|
NM_000254.3(MTR):c.2647G>A (p.Val883Ile)
|
|
|
NM_000254.3(MTR):c.2665A>C (p.Ser889Arg)
|
rs1553326540
|
|
NM_000254.3(MTR):c.2671G>A (p.Val891Met)
|
|
|
NM_000254.3(MTR):c.271G>C (p.Asp91His)
|
|
|
NM_000254.3(MTR):c.2744A>T (p.Asp915Val)
|
rs977928036
|
|
NM_000254.3(MTR):c.2775+4A>G
|
|
|
NM_000254.3(MTR):c.2822A>T (p.Gln941Leu)
|
|
|
NM_000254.3(MTR):c.2826G>A (p.Met942Ile)
|
|
|
NM_000254.3(MTR):c.2858C>T (p.Pro953Leu)
|
|
|
NM_000254.3(MTR):c.2866A>G (p.Ile956Val)
|
|
|
NM_000254.3(MTR):c.2890T>C (p.Tyr964His)
|
rs779579945
|
|
NM_000254.3(MTR):c.296G>A (p.Ser99Asn)
|
|
|
NM_000254.3(MTR):c.3008-3T>C
|
rs1286783552
|
|
NM_000254.3(MTR):c.3032A>G (p.Asp1011Gly)
|
rs1666296405
|
|
NM_000254.3(MTR):c.3046A>G (p.Met1016Val)
|
|
|
NM_000254.3(MTR):c.3077T>C (p.Leu1026Pro)
|
|
|
NM_000254.3(MTR):c.3080G>A (p.Arg1027Gln)
|
rs2147939390
|
|
NM_000254.3(MTR):c.3085C>T (p.Arg1029Trp)
|
|
|
NM_000254.3(MTR):c.3115A>C (p.Ser1039Arg)
|
|
|
NM_000254.3(MTR):c.3115A>G (p.Ser1039Gly)
|
|
|
NM_000254.3(MTR):c.3140A>T (p.Tyr1047Phe)
|
rs1572341910
|
|
NM_000254.3(MTR):c.3143_3144inv (p.Ala1048Val)
|
|
|
NM_000254.3(MTR):c.3155T>G (p.Val1052Gly)
|
rs1666303969
|
|
NM_000254.3(MTR):c.3205-9G>A
|
rs1666501324
|
|
NM_000254.3(MTR):c.3250G>T (p.Asp1084Tyr)
|
rs1666504883
|
|
NM_000254.3(MTR):c.3269A>G (p.His1090Arg)
|
|
|
NM_000254.3(MTR):c.3315T>G (p.Phe1105Leu)
|
rs1221565565
|
|
NM_000254.3(MTR):c.3322G>A (p.Glu1108Lys)
|
rs1666509852
|
|
NM_000254.3(MTR):c.3341A>G (p.Tyr1114Cys)
|
|
|
NM_000254.3(MTR):c.3375G>A (p.Met1125Ile)
|
|
|
NM_000254.3(MTR):c.3395G>A (p.Arg1132Gln)
|
rs1305962485
|
|
NM_000254.3(MTR):c.33C>T (p.Pro11=)
|
|
|
NM_000254.3(MTR):c.3424C>T (p.His1142Tyr)
|
|
|
NM_000254.3(MTR):c.3478G>A (p.Val1160Ile)
|
|
|
NM_000254.3(MTR):c.349A>C (p.Met117Leu)
|
rs143180799
|
|
NM_000254.3(MTR):c.349A>G (p.Met117Val)
|
rs143180799
|
|
NM_000254.3(MTR):c.35-20A>G
|
|
|
NM_000254.3(MTR):c.3514C>T (p.Arg1172Cys)
|
rs756440911
|
|
NM_000254.3(MTR):c.3515G>C (p.Arg1172Pro)
|
rs778432496
|
|
NM_000254.3(MTR):c.3548A>G (p.His1183Arg)
|
|
|
NM_000254.3(MTR):c.3592T>C (p.Ser1198Pro)
|
rs2147955084
|
|
NM_000254.3(MTR):c.3677A>G (p.Lys1226Arg)
|
rs777562650
|
|
NM_000254.3(MTR):c.3678A>G (p.Lys1226=)
|
rs2147961173
|
|
NM_000254.3(MTR):c.3695A>G (p.Lys1232Arg)
|
|
|
NM_000254.3(MTR):c.3717G>C (p.Glu1239Asp)
|
rs2147965312
|
|
NM_000254.3(MTR):c.3718G>T (p.Asp1240Tyr)
|
|
|
NM_000254.3(MTR):c.452A>G (p.Lys151Arg)
|
rs2103039190
|
|
NM_000254.3(MTR):c.485C>T (p.Pro162Leu)
|
|
|
NM_000254.3(MTR):c.614C>T (p.Ala205Val)
|
|
|
NM_000254.3(MTR):c.621T>G (p.Phe207Leu)
|
|
|
NM_000254.3(MTR):c.63G>C (p.Glu21Asp)
|
|
|
NM_000254.3(MTR):c.648A>T (p.Lys216Asn)
|
|
|
NM_000254.3(MTR):c.661C>G (p.Pro221Ala)
|
|
|
NM_000254.3(MTR):c.761T>A (p.Leu254His)
|
rs2103062352
|
|
NM_000254.3(MTR):c.762C>T (p.Leu254=)
|
rs1661602756
|
|
NM_000254.3(MTR):c.764G>A (p.Cys255Tyr)
|
|
|
NM_000254.3(MTR):c.80A>G (p.Gln27Arg)
|
rs1039659576
|
|
NM_000254.3(MTR):c.877A>G (p.Thr293Ala)
|
rs2103101092
|
|
NM_000254.3(MTR):c.901C>T (p.Pro301Ser)
|
rs766371534
|
|
NM_000254.3(MTR):c.907A>G (p.Met303Val)
|
|
|
NM_000289.5(PFKM):c.-176C>T
|
rs886049451
|
|
NM_000289.5(PFKM):c.-64C>T
|
rs886049452
|
|
NM_000289.6(PFKM):c.*134G>A
|
rs886049456
|
|
NM_000289.6(PFKM):c.*489T>A
|
rs886049457
|
|
NM_000289.6(PFKM):c.*503G>T
|
rs747797192
|
|
NM_000289.6(PFKM):c.*564G>A
|
rs1951034681
|
|
NM_000289.6(PFKM):c.*98G>A
|
rs886049455
|
|
NM_000289.6(PFKM):c.1028C>A (p.Ala343Asp)
|
|
|
NM_000289.6(PFKM):c.1034G>A (p.Arg345His)
|
|
|
NM_000289.6(PFKM):c.1043T>C (p.Leu348Pro)
|
rs1203659685
|
|
NM_000289.6(PFKM):c.1060G>T (p.Val354Leu)
|
|
|
NM_000289.6(PFKM):c.1063-6C>A
|
rs371033104
|
|
NM_000289.6(PFKM):c.1063-7C>T
|
rs776228408
|
|
NM_000289.6(PFKM):c.1064C>A (p.Thr355Asn)
|
|
|
NM_000289.6(PFKM):c.1114A>G (p.Lys372Glu)
|
rs1950380994
|
|
NM_000289.6(PFKM):c.1127+6G>T
|
|
|
NM_000289.6(PFKM):c.1177C>T (p.Pro393Ser)
|
|
|
NM_000289.6(PFKM):c.1191+12T>G
|
rs2135983216
|
|
NM_000289.6(PFKM):c.1191+3A>G
|
|
|
NM_000289.6(PFKM):c.1192-3_1192-2del
|
rs780969059
|
|
NM_000289.6(PFKM):c.1193G>A (p.Ser398Asn)
|
|
|
NM_000289.6(PFKM):c.1199C>T (p.Ser400Leu)
|
|
|
NM_000289.6(PFKM):c.1208T>C (p.Val403Ala)
|
|
|
NM_000289.6(PFKM):c.1226G>T (p.Gly409Val)
|
|
|
NM_000289.6(PFKM):c.1255G>A (p.Val419Ile)
|
rs1266995508
|
|
NM_000289.6(PFKM):c.1295G>A (p.Arg432Gln)
|
rs374824469
|
|
NM_000289.6(PFKM):c.133G>A (p.Gly45Ser)
|
|
|
NM_000289.6(PFKM):c.1342-15G>A
|
|
|
NM_000289.6(PFKM):c.1439A>G (p.Gln480Arg)
|
|
|
NM_000289.6(PFKM):c.1441A>T (p.Ile481Phe)
|
|
|
NM_000289.6(PFKM):c.1451A>G (p.Asn484Ser)
|
|
|
NM_000289.6(PFKM):c.1453A>G (p.Ile485Val)
|
|
|
NM_000289.6(PFKM):c.1487T>C (p.Ile496Thr)
|
|
|
NM_000289.6(PFKM):c.1514G>T (p.Gly505Val)
|
rs774891977
|
|
NM_000289.6(PFKM):c.1565T>C (p.Phe522Ser)
|
|
|
NM_000289.6(PFKM):c.160-13A>G
|
|
|
NM_000289.6(PFKM):c.1618G>A (p.Val540Ile)
|
|
|
NM_000289.6(PFKM):c.1648T>C (p.Cys550Arg)
|
rs1950621584
|
|
NM_000289.6(PFKM):c.1654-54_1654-46del
|
|
|
NM_000289.6(PFKM):c.1711G>A (p.Glu571Lys)
|
|
|
NM_000289.6(PFKM):c.1742C>T (p.Ala581Val)
|
|
|
NM_000289.6(PFKM):c.1771G>A (p.Asp591Asn)
|
|
|
NM_000289.6(PFKM):c.1808G>A (p.Arg603Gln)
|
|
|
NM_000289.6(PFKM):c.1826T>C (p.Val609Ala)
|
|
|
NM_000289.6(PFKM):c.1880+3A>G
|
|
|
NM_000289.6(PFKM):c.1880+5C>G
|
|
|
NM_000289.6(PFKM):c.189T>G (p.Asp63Glu)
|
|
|
NM_000289.6(PFKM):c.1918A>G (p.Ile640Val)
|
|
|
NM_000289.6(PFKM):c.1925A>C (p.Asn642Thr)
|
|
|
NM_000289.6(PFKM):c.1934C>T (p.Ser645Phe)
|
|
|
NM_000289.6(PFKM):c.2039G>A (p.Gly680Asp)
|
|
|
NM_000289.6(PFKM):c.2041G>A (p.Ala681Thr)
|
|
|
NM_000289.6(PFKM):c.2053A>G (p.Asn685Asp)
|
|
|
NM_000289.6(PFKM):c.2077G>C (p.Glu693Gln)
|
|
|
NM_000289.6(PFKM):c.2086C>T (p.Arg696Cys)
|
|
|
NM_000289.6(PFKM):c.2093-33G>C
|
|
|
NM_000289.6(PFKM):c.20A>G (p.His7Arg)
|
|
|
NM_000289.6(PFKM):c.2100C>G (p.Ile700Met)
|
rs2136051089
|
|
NM_000289.6(PFKM):c.2108A>T (p.Asn703Ile)
|
rs1950938419
|
|
NM_000289.6(PFKM):c.2120C>T (p.Ser707Leu)
|
|
|
NM_000289.6(PFKM):c.213G>T (p.Glu71Asp)
|
|
|
NM_000289.6(PFKM):c.2161C>G (p.Gln721Glu)
|
|
|
NM_000289.6(PFKM):c.2173G>A (p.Glu725Lys)
|
rs1176082291
|
|
NM_000289.6(PFKM):c.2202T>G (p.His734Gln)
|
|
|
NM_000289.6(PFKM):c.2219A>G (p.Gln740Arg)
|
rs1950977797
|
|
NM_000289.6(PFKM):c.2234dup (p.Arg746fs)
|
|
|
NM_000289.6(PFKM):c.2253C>G (p.Ile751Met)
|
|
|
NM_000289.6(PFKM):c.2266G>A (p.Glu756Lys)
|
|
|
NM_000289.6(PFKM):c.2274C>G (p.Asp758Glu)
|
rs1950983081
|
|
NM_000289.6(PFKM):c.2282C>G (p.Thr761Ser)
|
rs1592832922
|
|
NM_000289.6(PFKM):c.2287G>A (p.Asp763Asn)
|
|
|
NM_000289.6(PFKM):c.2312C>T (p.Thr771Ile)
|
|
|
NM_000289.6(PFKM):c.2315G>A (p.Arg772Gln)
|
|
|
NM_000289.6(PFKM):c.2326G>A (p.Gly776Arg)
|
|
|
NM_000289.6(PFKM):c.2327G>A (p.Gly776Glu)
|
|
|
NM_000289.6(PFKM):c.237+5_237+6insCTGAATATG
|
|
|
NM_000289.6(PFKM):c.293G>A (p.Arg98Gln)
|
|
|
NM_000289.6(PFKM):c.321G>C (p.Lys107Asn)
|
|
|
NM_000289.6(PFKM):c.335A>G (p.Asn112Ser)
|
rs1592727517
|
|
NM_000289.6(PFKM):c.360C>T (p.Gly120=)
|
rs886049453
|
|
NM_000289.6(PFKM):c.374C>A (p.Ala125Asp)
|
|
|
NM_000289.6(PFKM):c.385C>T (p.Arg129Cys)
|
|
|
NM_000289.6(PFKM):c.38G>A (p.Gly13Glu)
|
|
|
NM_000289.6(PFKM):c.427G>A (p.Gly143Ser)
|
|
|
NM_000289.6(PFKM):c.431A>C (p.Lys144Thr)
|
|
|
NM_000289.6(PFKM):c.452C>T (p.Thr151Met)
|
|
|
NM_000289.6(PFKM):c.512G>T (p.Gly171Val)
|
|
|
NM_000289.6(PFKM):c.550C>T (p.Arg184Trp)
|
|
|
NM_000289.6(PFKM):c.551G>A (p.Arg184Gln)
|
|
|
NM_000289.6(PFKM):c.558G>A (p.Met186Ile)
|
|
|
NM_000289.6(PFKM):c.619G>C (p.Val207Leu)
|
|
|
NM_000289.6(PFKM):c.628C>T (p.Arg210Cys)
|
|
|
NM_000289.6(PFKM):c.638+4A>G
|
|
|
NM_000289.6(PFKM):c.712G>A (p.Asp238Asn)
|
|
|
NM_000289.6(PFKM):c.71G>C (p.Gly24Ala)
|
rs1948422341
|
|
NM_000289.6(PFKM):c.74G>T (p.Gly25Val)
|
|
|
NM_000289.6(PFKM):c.757C>T (p.Arg253Cys)
|
|
|
NM_000289.6(PFKM):c.766C>T (p.Arg256Cys)
|
|
|
NM_000289.6(PFKM):c.799A>G (p.Ile267Val)
|
|
|
NM_000289.6(PFKM):c.846G>A (p.Leu282=)
|
rs1310081048
|
|
NM_000289.6(PFKM):c.856C>T (p.Arg286Cys)
|
|
|
NM_000289.6(PFKM):c.857G>T (p.Arg286Leu)
|
|
|
NM_000289.6(PFKM):c.86G>A (p.Gly29Asp)
|
|
|
NM_000289.6(PFKM):c.872C>G (p.Thr291Ser)
|
|
|
NM_000289.6(PFKM):c.874C>T (p.Arg292Trp)
|
|
|
NM_000289.6(PFKM):c.883G>A (p.Val295Ile)
|
|
|
NM_000289.6(PFKM):c.926A>T (p.Asp309Val)
|
|
|
NM_000289.6(PFKM):c.962T>C (p.Val321Ala)
|
|
|
NM_000289.6(PFKM):c.995C>T (p.Pro332Leu)
|
|
|
NM_000298.6(PKLR):c.*13T>G
|
rs1052177
|
|
NM_000298.6(PKLR):c.*14C>G
|
rs8177994
|
|
NM_000298.6(PKLR):c.*351T>A
|
rs886045349
|
|
NM_000298.6(PKLR):c.*356T>C
|
rs1674470980
|
|
NM_000298.6(PKLR):c.*500C>T
|
rs1674463281
|
|
NM_000298.6(PKLR):c.*755T>C
|
rs1674455124
|
|
NM_000298.6(PKLR):c.1061A>G (p.Lys354Arg)
|
rs2148204121
|
|
NM_000298.6(PKLR):c.1117-4C>G
|
rs1572054195
|
|
NM_000298.6(PKLR):c.1510C>T (p.Arg504Cys)
|
|
|
NM_000298.6(PKLR):c.1575G>A (p.Trp525Ter)
|
rs2148198897
|
|
NM_000298.6(PKLR):c.188C>G (p.Ala63Gly)
|
rs886045353
|
|
NM_000298.6(PKLR):c.227T>C (p.Leu76Pro)
|
|
|
NM_000298.6(PKLR):c.284-9T>C
|
rs886045352
|
|
NM_000298.6(PKLR):c.376-11C>G
|
rs1647538523
|
|
NM_000298.6(PKLR):c.382G>C (p.Ala128Pro)
|
|
|
NM_000298.6(PKLR):c.451G>A (p.Val151Met)
|
|
|
NM_000298.6(PKLR):c.491C>A (p.Thr164Asn)
|
rs1220156417
|
|
NM_000298.6(PKLR):c.505G>T (p.Gly169Trp)
|
rs199824528
|
|
NM_000298.6(PKLR):c.639G>T (p.Val213=)
|
rs750102822
|
|
NM_000298.6(PKLR):c.657_677del (p.Asp220_Leu226del)
|
|
|
NM_000298.6(PKLR):c.692T>C (p.Ile231Thr)
|
|
|
NM_000298.6(PKLR):c.694+43C>T
|
|
|
NM_000298.6(PKLR):c.943G>A (p.Glu315Lys)
|
rs1557959063
|
|
NM_000298.6(PKLR):c.945G>C (p.Glu315Asp)
|
rs2148204818
|
|
NM_000298.6(PKLR):c.958G>C (p.Val320Leu)
|
|
|
NM_000298.6(PKLR):c.966-12C>T
|
rs1188767860
|
|
NM_000298.6(PKLR):c.966G>T (p.Arg322Ser)
|
rs763964110
|
|
NM_000298.6(PKLR):c.972T>C (p.Asp324=)
|
rs8177974
|
|
NM_000324.3(RHAG):c.1007T>C (p.Leu336Ser)
|
rs1554172605
|
|
NM_000324.3(RHAG):c.974A>G (p.His325Arg)
|
|
|
NM_000342.4(SLC4A1):c.*1032C>T
|
rs557549888
|
|
NM_000342.4(SLC4A1):c.*1047T>C
|
rs2047320056
|
|
NM_000342.4(SLC4A1):c.*1273del
|
rs768606768
|
|
NM_000342.4(SLC4A1):c.*1316C>T
|
rs886052991
|
|
NM_000342.4(SLC4A1):c.*1606_*1608dup
|
rs57466226
|
|
NM_000342.4(SLC4A1):c.*1608del
|
rs57466226
|
|
NM_000342.4(SLC4A1):c.*1608dup
|
rs57466226
|
|
NM_000342.4(SLC4A1):c.*1609C>T
|
rs1039193295
|
|
NM_000342.4(SLC4A1):c.*1693G>A
|
rs2047314555
|
|
NM_000342.4(SLC4A1):c.*1791C>T
|
rs941106311
|
|
NM_000342.4(SLC4A1):c.*265A>C
|
rs2047325817
|
|
NM_000342.4(SLC4A1):c.*649G>A
|
rs1054653641
|
|
NM_000342.4(SLC4A1):c.*701C>G
|
rs13306779
|
|
NM_000342.4(SLC4A1):c.*745G>A
|
rs1174269872
|
|
NM_000342.4(SLC4A1):c.*753C>T
|
rs763961316
|
|
NM_000342.4(SLC4A1):c.*872G>C
|
rs886052994
|
|
NM_000342.4(SLC4A1):c.*936G>T
|
rs1051135906
|
|
NM_000342.4(SLC4A1):c.*984T>G
|
rs878998198
|
|
NM_000342.4(SLC4A1):c.-59G>T
|
rs2047459963
|
|
NM_000342.4(SLC4A1):c.1179C>T (p.Tyr393=)
|
rs2047406551
|
|
NM_000342.4(SLC4A1):c.1202T>G (p.Phe401Cys)
|
rs141751197
|
|
NM_000342.4(SLC4A1):c.1319T>A (p.Leu440Gln)
|
rs2144613306
|
|
NM_000342.4(SLC4A1):c.1331C>A (p.Thr444Asn)
|
rs754973425
|
|
NM_000342.4(SLC4A1):c.1331C>G (p.Thr444Ser)
|
rs754973425
|
|
NM_000342.4(SLC4A1):c.1530C>G (p.Ser510Arg)
|
rs1567831936
|
|
NM_000342.4(SLC4A1):c.1541G>A (p.Arg514His)
|
rs745839527
|
|
NM_000342.4(SLC4A1):c.1626+7G>A
|
rs765327742
|
|
NM_000342.4(SLC4A1):c.1637A>G (p.Asp546Gly)
|
rs886052998
|
|
NM_000342.4(SLC4A1):c.2019G>A (p.Leu673=)
|
rs2047371426
|
|
NM_000342.4(SLC4A1):c.2131G>A (p.Gly711Ser)
|
|
|
NM_000342.4(SLC4A1):c.2243G>A (p.Gly748Glu)
|
rs886052996
|
|
NM_000342.4(SLC4A1):c.2312G>T (p.Gly771Val)
|
rs121912741
|
|
NM_000342.4(SLC4A1):c.2344C>T (p.Arg782Cys)
|
rs148317876
|
|
NM_000342.4(SLC4A1):c.2404G>A (p.Gly802Ser)
|
|
|
NM_000342.4(SLC4A1):c.2573C>A (p.Ala858Asp)
|
rs121912751
|
|
NM_000342.4(SLC4A1):c.2586C>A (p.Val862=)
|
rs1485187596
|
|
NM_000342.4(SLC4A1):c.261C>A (p.Asn87Lys)
|
rs761763084
|
|
NM_000342.4(SLC4A1):c.2655+2_2655+3del
|
|
|
NM_000342.4(SLC4A1):c.2702G>C (p.Arg901Pro)
|
rs189300762
|
|
NM_000342.4(SLC4A1):c.283G>C (p.Gly95Arg)
|
rs1380205574
|
|
NM_000342.4(SLC4A1):c.319C>T (p.Leu107Phe)
|
rs2047435499
|
|
NM_000342.4(SLC4A1):c.344C>T (p.Thr115Ile)
|
rs2047435077
|
|
NM_000342.4(SLC4A1):c.609+1G>A
|
rs1362663440
|
|
NM_000342.4(SLC4A1):c.697C>G (p.Arg233Gly)
|
rs779054292
|
|
NM_000342.4(SLC4A1):c.733G>A (p.Val245Met)
|
rs148170067
|
|
NM_000355.3(TCN2):c.-181A>C
|
rs2240433
|
|
NM_000355.4(TCN2):c.*173C>T
|
rs896653059
|
|
NM_000355.4(TCN2):c.*283C>G
|
rs538133033
|
|
NM_000355.4(TCN2):c.*415T>G
|
rs560130628
|
|
NM_000355.4(TCN2):c.*93G>C
|
rs886057398
|
|
NM_000355.4(TCN2):c.-153C>G
|
rs886057395
|
|
NM_000355.4(TCN2):c.-6G>A
|
rs771507572
|
|
NM_000355.4(TCN2):c.1021C>A (p.Pro341Thr)
|
rs746722274
|
|
NM_000355.4(TCN2):c.1021C>G (p.Pro341Ala)
|
rs746722274
|
|
NM_000355.4(TCN2):c.1025C>T (p.Pro342Leu)
|
|
|
NM_000355.4(TCN2):c.102G>C (p.Leu34Phe)
|
|
|
NM_000355.4(TCN2):c.1037C>T (p.Ser346Phe)
|
|
|
NM_000355.4(TCN2):c.1043C>G (p.Ser348Cys)
|
rs9621049
|
|
NM_000355.4(TCN2):c.1045G>C (p.Val349Leu)
|
rs2087628967
|
|
NM_000355.4(TCN2):c.1052C>T (p.Ala351Val)
|
rs951348375
|
|
NM_000355.4(TCN2):c.1055G>A (p.Gly352Glu)
|
rs778691896
|
|
NM_000355.4(TCN2):c.1061C>G (p.Thr354Ser)
|
|
|
NM_000355.4(TCN2):c.1084G>T (p.Ala362Ser)
|
rs1237571997
|
|
NM_000355.4(TCN2):c.1087C>T (p.His363Tyr)
|
rs2087629933
|
|
NM_000355.4(TCN2):c.1088A>G (p.His363Arg)
|
|
|
NM_000355.4(TCN2):c.1092G>A (p.Glu364=)
|
rs886057397
|
|
NM_000355.4(TCN2):c.1106C>G (p.Thr369Arg)
|
|
|
NM_000355.4(TCN2):c.1109A>G (p.Tyr370Cys)
|
rs1406364381
|
|
NM_000355.4(TCN2):c.1121CCT[1] (p.Ser375del)
|
rs2087720255
|
|
NM_000355.4(TCN2):c.112C>G (p.Leu38Val)
|
|
|
NM_000355.4(TCN2):c.1138T>C (p.Tyr380His)
|
rs2087720717
|
|
NM_000355.4(TCN2):c.1139A>G (p.Tyr380Cys)
|
rs746024609
|
|
NM_000355.4(TCN2):c.116T>C (p.Leu39Ser)
|
|
|
NM_000355.4(TCN2):c.1195C>G (p.Arg399Gly)
|
rs769817524
|
|
NM_000355.4(TCN2):c.1196G>C (p.Arg399Pro)
|
rs4820889
|
|
NM_000355.4(TCN2):c.1222+3G>A
|
|
|
NM_000355.4(TCN2):c.1235A>G (p.Tyr412Cys)
|
rs745363222
|
|
NM_000355.4(TCN2):c.1282T>G (p.Ter428Glu)
|
|
|
NM_000355.4(TCN2):c.1284G>A (p.Ter428=)
|
rs2145563752
|
|
NM_000355.4(TCN2):c.154C>T (p.Pro52Ser)
|
rs1555894597
|
|
NM_000355.4(TCN2):c.170G>T (p.Gly57Val)
|
|
|
NM_000355.4(TCN2):c.17C>A (p.Ala6Asp)
|
rs2145528950
|
|
NM_000355.4(TCN2):c.197G>C (p.Gly66Ala)
|
rs2087531325
|
|
NM_000355.4(TCN2):c.19T>C (p.Phe7Leu)
|
|
|
NM_000355.4(TCN2):c.224G>C (p.Ser75Thr)
|
|
|
NM_000355.4(TCN2):c.230A>G (p.Lys77Arg)
|
rs75680863
|
|
NM_000355.4(TCN2):c.242A>C (p.Gln81Pro)
|
rs2087532634
|
|
NM_000355.4(TCN2):c.243G>T (p.Gln81His)
|
rs2087532682
|
|
NM_000355.4(TCN2):c.258-8_258-6dup
|
|
|
NM_000355.4(TCN2):c.262G>A (p.Ala88Thr)
|
|
|
NM_000355.4(TCN2):c.280G>C (p.Gly94Arg)
|
rs11557600
|
|
NM_000355.4(TCN2):c.280G>T (p.Gly94Cys)
|
rs11557600
|
|
NM_000355.4(TCN2):c.308G>A (p.Gly103Asp)
|
|
|
NM_000355.4(TCN2):c.311A>G (p.Gln104Arg)
|
|
|
NM_000355.4(TCN2):c.319C>T (p.Leu107Phe)
|
|
|
NM_000355.4(TCN2):c.31C>G (p.Leu11Val)
|
rs2145528995
|
|
NM_000355.4(TCN2):c.323A>G (p.Tyr108Cys)
|
|
|
NM_000355.4(TCN2):c.32T>C (p.Leu11Pro)
|
|
|
NM_000355.4(TCN2):c.334C>G (p.Leu112Val)
|
rs777103002
|
|
NM_000355.4(TCN2):c.340G>A (p.Ala114Thr)
|
|
|
NM_000355.4(TCN2):c.343A>G (p.Asn115Asp)
|
|
|
NM_000355.4(TCN2):c.353T>G (p.Phe118Cys)
|
rs199728304
|
|
NM_000355.4(TCN2):c.354T>C (p.Phe118=)
|
|
|
NM_000355.4(TCN2):c.362G>A (p.Gly121Asp)
|
rs1602045889
|
|
NM_000355.4(TCN2):c.364C>T (p.His122Tyr)
|
rs373115973
|
|
NM_000355.4(TCN2):c.376A>G (p.Arg126Gly)
|
rs552020145
|
|
NM_000355.4(TCN2):c.378G>C (p.Arg126Ser)
|
|
|
NM_000355.4(TCN2):c.408G>C (p.Glu136Asp)
|
rs886057396
|
|
NM_000355.4(TCN2):c.416A>G (p.Lys139Arg)
|
|
|
NM_000355.4(TCN2):c.426T>C (p.Ile142=)
|
|
|
NM_000355.4(TCN2):c.427+3G>A
|
|
|
NM_000355.4(TCN2):c.433G>A (p.Asp145Asn)
|
|
|
NM_000355.4(TCN2):c.442G>T (p.Gly148Cys)
|
|
|
NM_000355.4(TCN2):c.445C>T (p.His149Tyr)
|
|
|
NM_000355.4(TCN2):c.447C>A (p.His149Gln)
|
rs770630089
|
|
NM_000355.4(TCN2):c.448C>G (p.Pro150Ala)
|
rs776493564
|
|
NM_000355.4(TCN2):c.44G>A (p.Gly15Glu)
|
|
|
NM_000355.4(TCN2):c.46_47delinsTT (p.Ala16Phe)
|
rs2145529052
|
|
NM_000355.4(TCN2):c.508C>T (p.Arg170Trp)
|
|
|
NM_000355.4(TCN2):c.511G>A (p.Val171Ile)
|
|
|
NM_000355.4(TCN2):c.559C>T (p.His187Tyr)
|
rs1295178933
|
|
NM_000355.4(TCN2):c.562C>T (p.Gln188Ter)
|
rs1456983114
|
|
NM_000355.4(TCN2):c.565G>A (p.Gly189Ser)
|
|
|
NM_000355.4(TCN2):c.565G>T (p.Gly189Cys)
|
|
|
NM_000355.4(TCN2):c.569A>G (p.His190Arg)
|
|
|
NM_000355.4(TCN2):c.581-4C>T
|
rs867249218
|
|
NM_000355.4(TCN2):c.581-8A>G
|
rs7290898
|
|
NM_000355.4(TCN2):c.582C>G (p.Asp194Glu)
|
rs762023960
|
|
NM_000355.4(TCN2):c.583A>T (p.Thr195Ser)
|
rs2145544190
|
|
NM_000355.4(TCN2):c.622C>T (p.Arg208Cys)
|
|
|
NM_000355.4(TCN2):c.625T>C (p.Ser209Pro)
|
|
|
NM_000355.4(TCN2):c.631T>G (p.Phe211Val)
|
|
|
NM_000355.4(TCN2):c.638C>T (p.Pro213Leu)
|
rs774581238
|
|
NM_000355.4(TCN2):c.64+4A>T
|
|
|
NM_000355.4(TCN2):c.641G>T (p.Gly214Val)
|
|
|
NM_000355.4(TCN2):c.643C>A (p.Arg215=)
|
rs35838082
|
|
NM_000355.4(TCN2):c.655A>G (p.Ile219Val)
|
rs2087597138
|
|
NM_000355.4(TCN2):c.662T>C (p.Met221Thr)
|
|
|
NM_000355.4(TCN2):c.680G>A (p.Arg227Gln)
|
rs17849434
|
|
NM_000355.4(TCN2):c.706C>T (p.Pro236Ser)
|
rs1382507371
|
|
NM_000355.4(TCN2):c.70C>A (p.Pro24Thr)
|
rs755866662
|
|
NM_000355.4(TCN2):c.70C>G (p.Pro24Ala)
|
rs755866662
|
|
NM_000355.4(TCN2):c.716A>G (p.His239Arg)
|
rs1338313632
|
|
NM_000355.4(TCN2):c.720T>G (p.Phe240Leu)
|
rs368425204
|
|
NM_000355.4(TCN2):c.769C>G (p.Pro257Ala)
|
|
|
NM_000355.4(TCN2):c.772A>G (p.Met258Val)
|
rs781666065
|
|
NM_000355.4(TCN2):c.775_776delinsTC (p.Arg259Ser)
|
|
|
NM_000355.4(TCN2):c.776G>A (p.Arg259His)
|
rs1801198
|
|
NM_000355.4(TCN2):c.781G>A (p.Ala261Thr)
|
|
|
NM_000355.4(TCN2):c.802C>T (p.Leu268Phe)
|
rs2145544995
|
|
NM_000355.4(TCN2):c.808G>A (p.Ala270Thr)
|
rs1329472979
|
|
NM_000355.4(TCN2):c.810G>A (p.Ala270=)
|
rs61748898
|
|
NM_000355.4(TCN2):c.810G>T (p.Ala270=)
|
rs61748898
|
|
NM_000355.4(TCN2):c.839A>T (p.Asp280Val)
|
|
|
NM_000355.4(TCN2):c.840T>A (p.Asp280Glu)
|
|
|
NM_000355.4(TCN2):c.845C>T (p.Ala282Val)
|
|
|
NM_000355.4(TCN2):c.868T>G (p.Ser290Ala)
|
rs1423032257
|
|
NM_000355.4(TCN2):c.872A>T (p.Gln291Leu)
|
rs2087603700
|
|
NM_000355.4(TCN2):c.886C>G (p.Leu296Val)
|
|
|
NM_000355.4(TCN2):c.892C>T (p.His298Tyr)
|
|
|
NM_000355.4(TCN2):c.895A>G (p.Lys299Glu)
|
rs2087604329
|
|
NM_000355.4(TCN2):c.916T>C (p.Phe306Leu)
|
|
|
NM_000355.4(TCN2):c.91G>A (p.Val31Ile)
|
rs2087528743
|
|
NM_000355.4(TCN2):c.926G>A (p.Cys309Tyr)
|
rs1396153308
|
|
NM_000355.4(TCN2):c.926G>C (p.Cys309Ser)
|
rs1396153308
|
|
NM_000355.4(TCN2):c.937C>G (p.Arg313Gly)
|
rs747257199
|
|
NM_000355.4(TCN2):c.940+3A>G
|
rs780965553
|
|
NM_000355.4(TCN2):c.953C>T (p.Pro318Leu)
|
|
|
NM_000355.4(TCN2):c.977C>T (p.Thr326Ile)
|
|
|
NM_000355.4(TCN2):c.987C>G (p.Ile329Met)
|
rs755892011
|
|
NM_000355.4(TCN2):c.988A>G (p.Ile330Val)
|
rs1169605273
|
|
NM_000355.4(TCN2):c.9C>G (p.His3Gln)
|
rs1489889957
|
|
NM_000365.6(TPI1):c.*134C>A
|
rs782308993
|
|
NM_000365.6(TPI1):c.*173G>A
|
rs1191018741
|
|
NM_000365.6(TPI1):c.*520T>C
|
rs1944574698
|
|
NM_000365.6(TPI1):c.*541dup
|
rs201871949
|
|
NM_000365.6(TPI1):c.*542_*544del
|
rs782559646
|
|
NM_000365.6(TPI1):c.-29C>G
|
rs181882616
|
|
NM_000365.6(TPI1):c.-29C>T
|
rs181882616
|
|
NM_000365.6(TPI1):c.158G>A (p.Arg53Gln)
|
|
|
NM_000365.6(TPI1):c.182C>T (p.Ala61Val)
|
|
|
NM_000365.6(TPI1):c.227C>G (p.Thr76Ser)
|
|
|
NM_000365.6(TPI1):c.239+8C>A
|
rs782359362
|
|
NM_000365.6(TPI1):c.37T>C (p.Trp13Arg)
|
|
|
NM_000365.6(TPI1):c.383T>C (p.Ile128Thr)
|
rs199881593
|
|
NM_000365.6(TPI1):c.409G>C (p.Ala137Pro)
|
|
|
NM_000365.6(TPI1):c.453C>G (p.Ile151Met)
|
|
|
NM_000365.6(TPI1):c.478A>G (p.Lys160Glu)
|
|
|
NM_000365.6(TPI1):c.558C>T (p.His186=)
|
rs369241009
|
|
NM_000365.6(TPI1):c.673C>A (p.Pro225Thr)
|
|
|
NM_000365.6(TPI1):c.694G>A (p.Val232Met)
|
rs1555132614
|
|
NM_000365.6(TPI1):c.698G>C (p.Gly233Ala)
|
|
|
NM_000373.4(UMPS):c.*1153C>T
|
rs768119744
|
|
NM_000373.4(UMPS):c.*1298_*1299del
|
rs11330991
|
|
NM_000373.4(UMPS):c.*1306_*1307del
|
rs777742646
|
|
NM_000373.4(UMPS):c.*1843A>C
|
rs920254780
|
|
NM_000373.4(UMPS):c.*2035C>T
|
rs2063595086
|
|
NM_000373.4(UMPS):c.*2036A>T
|
rs1211026340
|
|
NM_000373.4(UMPS):c.*255T>C
|
rs2063580266
|
|
NM_000373.4(UMPS):c.*2631C>G
|
rs2063601529
|
|
NM_000373.4(UMPS):c.*2671T>G
|
rs886057880
|
|
NM_000373.4(UMPS):c.*2672TG[18]
|
rs58981387
|
|
NM_000373.4(UMPS):c.*2672TG[20]
|
rs58981387
|
|
NM_000373.4(UMPS):c.*2672TG[22]
|
rs58981387
|
|
NM_000373.4(UMPS):c.*2672TG[24]
|
rs58981387
|
|
NM_000373.4(UMPS):c.*2672TG[25]
|
rs58981387
|
|
NM_000373.4(UMPS):c.*2672TG[26]
|
rs58981387
|
|
NM_000373.4(UMPS):c.*2703G>A
|
rs886057883
|
|
NM_000373.4(UMPS):c.*2711G>A
|
rs2063603702
|
|
NM_000373.4(UMPS):c.*2715_*2718del
|
rs886057884
|
|
NM_000373.4(UMPS):c.*2716T>C
|
rs886057885
|
|
NM_000373.4(UMPS):c.*3367C>A
|
rs768556841
|
|
NM_000373.4(UMPS):c.*4013ATATA[1]
|
rs541152211
|
|
NM_000373.4(UMPS):c.*4570C>T
|
rs1387243813
|
|
NM_000373.4(UMPS):c.*469C>T
|
rs2063582436
|
|
NM_000373.4(UMPS):c.*4765_*4767del
|
rs886057897
|
|
NM_000373.4(UMPS):c.*4883C>T
|
rs148029686
|
|
NM_000373.4(UMPS):c.*5120_*5124del
|
rs556352266
|
|
NM_000373.4(UMPS):c.*814C>T
|
rs763914466
|
|
NM_000373.4(UMPS):c.*882G>C
|
rs2063585502
|
|
NM_000373.4(UMPS):c.105C>T (p.Pro35=)
|
rs772728104
|
|
NM_000373.4(UMPS):c.1158+10G>C
|
rs371807738
|
|
NM_000373.4(UMPS):c.441T>C (p.Thr147=)
|
rs886057871
|
|
NM_000373.4(UMPS):c.443A>T (p.Asp148Val)
|
|
|
NM_000373.4(UMPS):c.799T>C (p.Leu267=)
|
rs2063529927
|
|
NM_000373.4(UMPS):c.857T>A (p.Ile286Asn)
|
rs200305064
|
|
NM_000375.3(UROS):c.-195C>A
|
rs1227442865
|
|
NM_000375.3(UROS):c.-224C>T
|
rs1854170338
|
|
NM_000375.3(UROS):c.251A>C (p.Glu84Ala)
|
rs763606042
|
|
NM_000375.3(UROS):c.512T>C (p.Val171Ala)
|
rs17173752
|
|
NM_000375.3(UROS):c.660+4del
|
|
|
NM_000384.3(APOB):c.12088-23dup
|
rs751121092
|
|
NM_000384.3(APOB):c.2917C>A (p.Leu973Met)
|
rs886055592
|
|
NM_000384.3(APOB):c.3595G>A (p.Asp1199Asn)
|
rs375894411
|
|
NM_000384.3(APOB):c.7405T>A (p.Phe2469Ile)
|
rs768221258
|
|
NM_000398.7(CYB5R3):c.130C>T (p.Pro44Ser)
|
|
|
NM_000398.7(CYB5R3):c.149G>A (p.Arg50Gln)
|
|
|
NM_000398.7(CYB5R3):c.16A>G (p.Ser6Gly)
|
|
|
NM_000398.7(CYB5R3):c.182G>A (p.Arg61His)
|
|
|
NM_000398.7(CYB5R3):c.194C>G (p.Pro65Arg)
|
|
|
NM_000398.7(CYB5R3):c.1A>G (p.Met1Val)
|
|
|
NM_000398.7(CYB5R3):c.245C>T (p.Ser82Leu)
|
|
|
NM_000398.7(CYB5R3):c.298G>A (p.Asp100Asn)
|
|
|
NM_000398.7(CYB5R3):c.367G>A (p.Ala123Thr)
|
|
|
NM_000398.7(CYB5R3):c.394G>C (p.Glu132Gln)
|
|
|
NM_000398.7(CYB5R3):c.440G>C (p.Gly147Ala)
|
|
|
NM_000398.7(CYB5R3):c.472G>A (p.Ala158Thr)
|
|
|
NM_000398.7(CYB5R3):c.503T>C (p.Ile168Thr)
|
|
|
NM_000398.7(CYB5R3):c.613C>T (p.His205Tyr)
|
|
|
NM_000398.7(CYB5R3):c.63T>A (p.Ser21Arg)
|
|
|
NM_000398.7(CYB5R3):c.694C>T (p.Arg232Cys)
|
|
|
NM_000398.7(CYB5R3):c.702G>T (p.Lys234Asn)
|
|
|
NM_000398.7(CYB5R3):c.796G>C (p.Glu266Gln)
|
|
|
NM_000398.7(CYB5R3):c.906A>G (p.Ter302Trp)
|
|
|
NM_000402.4(G6PD):c.1246A>G (p.Lys416Glu)
|
rs137852320
|
|
NM_000402.4(G6PD):c.1406G>C (p.Arg469Pro)
|
rs137852337
|
|
NM_000476.3(AK1):c.148_149delinsAA (p.Gly50Asn)
|
|
|
NM_000476.3(AK1):c.158G>A (p.Arg53Lys)
|
|
|
NM_000476.3(AK1):c.229C>T (p.Arg77Trp)
|
|
|
NM_000476.3(AK1):c.238A>G (p.Met80Val)
|
|
|
NM_000476.3(AK1):c.254A>G (p.Asn85Ser)
|
|
|
NM_000476.3(AK1):c.409G>A (p.Gly137Arg)
|
|
|
NM_000476.3(AK1):c.530G>A (p.Gly177Asp)
|
|
|
NM_000476.3(AK1):c.530G>T (p.Gly177Val)
|
rs201453879
|
|
NM_000476.3(AK1):c.535G>C (p.Val179Leu)
|
|
|
NM_000476.3(AK1):c.55T>G (p.Ser19Ala)
|
|
|
NM_000476.3(AK1):c.78G>C (p.Glu26Asp)
|
|
|
NM_000487.6(ARSA):c.947C>A (p.Ala316Asp)
|
rs1569078754
|
|
NM_000517.6(HBA2):c.-59C>T
|
rs1277780626
|
|
NM_000517.6(HBA2):c.199C>A (p.Leu67Met)
|
rs1280121011
|
|
NM_000517.6(HBA2):c.200T>A (p.Leu67Gln)
|
rs41323248
|
|
NM_000517.6(HBA2):c.200T>G (p.Leu67Arg)
|
rs41323248
|
|
NM_000517.6(HBA2):c.203C>T (p.Thr68Ile)
|
rs2142017990
|
|
NM_000517.6(HBA2):c.369C>G (p.His123Gln)
|
rs41479347
|
|
NM_000517.6(HBA2):c.394T>C (p.Ser132Pro)
|
|
|
NM_000517.6(HBA2):c.404C>T (p.Thr135Ile)
|
rs281864488
|
|
NM_000518.4(HBB):c.-124A>T
|
|
|
NM_000518.4(HBB):c.157G>C (p.Asp53His)
|
rs33961886
|
|
NM_000518.4(HBB):c.184A>G (p.Lys62Glu)
|
rs33995148
|
|
NM_000518.4(HBB):c.232C>T (p.His78Tyr)
|
rs33991294
|
|
NM_000518.4(HBB):c.263C>A (p.Thr88Lys)
|
rs33993568
|
|
NM_000518.4(HBB):c.271G>A (p.Glu91Lys)
|
rs33913712
|
|
NM_000518.4(HBB):c.371C>T (p.Thr124Ile)
|
rs33935383
|
|
NM_000518.4(HBB):c.422C>A (p.Ala141Asp)
|
rs33927093
|
|
NM_000518.4(HBB):c.44T>G (p.Leu15Arg)
|
rs33935445
|
|
NM_000518.4(HBB):c.68A>T (p.Glu23Val)
|
rs33936254
|
|
NM_000518.5(HBB):c.*56A>T
|
rs537944366
|
|
NM_000518.5(HBB):c.*59A>G
|
rs1345009528
|
|
NM_000518.5(HBB):c.-10A>G
|
rs747545656
|
|
NM_000518.5(HBB):c.-140C>G
|
rs34999973
|
|
NM_000518.5(HBB):c.-25T>C
|
rs886039874
|
|
NM_000518.5(HBB):c.-82C>T
|
rs34500389
|
|
NM_000518.5(HBB):c.10C>A (p.Leu4Met)
|
rs34126315
|
|
NM_000518.5(HBB):c.167T>C (p.Met56Thr)
|
rs35094013
|
|
NM_000518.5(HBB):c.169G>A (p.Gly57Ser)
|
rs33935983
|
|
NM_000518.5(HBB):c.16C>T (p.Pro6Ser)
|
rs33912272
|
|
NM_000518.5(HBB):c.180G>C (p.Lys60Asn)
|
rs34621955
|
|
NM_000518.5(HBB):c.237G>C (p.Leu79=)
|
rs1847555518
|
|
NM_000518.5(HBB):c.241A>T (p.Asn81Tyr)
|
rs63750519
|
|
NM_000518.5(HBB):c.316-369G>A
|
rs1589891886
|
|
NM_000518.5(HBB):c.316-3C>T
|
rs33913413
|
|
NM_000518.5(HBB):c.385G>A (p.Ala129Thr)
|
|
|
NM_000518.5(HBB):c.387T>A (p.Ala129=)
|
rs1248780802
|
|
NM_000518.5(HBB):c.402G>C (p.Val134=)
|
rs113082294
|
|
NM_000518.5(HBB):c.4G>A (p.Val2Met)
|
rs33958358
|
|
NM_000518.5(HBB):c.56T>G (p.Val19Gly)
|
rs35382661
|
|
NM_000518.5(HBB):c.5T>C (p.Val2Ala)
|
rs33949930
|
|
NM_000518.5(HBB):c.93-6C>T
|
rs1554918048
|
|
NM_000611.6(CD59):c.190T>G (p.Cys64Gly)
|
rs1554939509
|
|
NM_000611.6(CD59):c.286_295del (p.Phe96fs)
|
|
|
NM_000611.6(CD59):c.85T>G (p.Tyr29Asp)
|
rs1564972905
|
|
NM_000617.3(SLC11A2):c.*1444C>T
|
rs946003076
|
|
NM_000617.3(SLC11A2):c.*1466dup
|
rs561463670
|
|
NM_000617.3(SLC11A2):c.*1752dup
|
rs755515112
|
|
NM_000617.3(SLC11A2):c.*2083_*2084del
|
rs886049557
|
|
NM_000617.3(SLC11A2):c.*2289G>T
|
rs867212578
|
|
NM_000617.3(SLC11A2):c.*2320del
|
rs141968385
|
|
NM_000617.3(SLC11A2):c.*295G>A
|
rs1940770079
|
|
NM_000617.3(SLC11A2):c.*970A>G
|
rs886049563
|
|
NM_000617.3(SLC11A2):c.-38-3C>T
|
rs886049569
|
|
NM_000617.3(SLC11A2):c.-39+12G>A
|
rs1944384418
|
|
NM_000617.3(SLC11A2):c.1421+8T>A
|
rs886049566
|
|
NM_000617.3(SLC11A2):c.1576-7C>G
|
rs1940818391
|
|
NM_000617.3(SLC11A2):c.436C>G (p.Arg146Gly)
|
rs774857007
|
|
NM_000617.3(SLC11A2):c.578C>T (p.Thr193Ile)
|
|
|
NM_000617.3(SLC11A2):c.715G>A (p.Gly239Ser)
|
rs1592344306
|
|
NM_000617.3(SLC11A2):c.828C>G (p.Val276=)
|
rs754854640
|
|
NM_000619.3(IFNG):c.*107A>G
|
rs886049800
|
|
NM_000619.3(IFNG):c.*187T>G
|
rs1213374453
|
|
NM_000619.3(IFNG):c.*22T>A
|
rs1882583669
|
|
NM_000619.3(IFNG):c.*93TCAA[1]
|
rs137854903
|
|
NM_000619.3(IFNG):c.*9C>T
|
rs886049801
|
|
NM_000619.3(IFNG):c.-2C>A
|
rs886049802
|
|
NM_000619.3(IFNG):c.-9T>C
|
rs886049803
|
|
NM_000619.3(IFNG):c.431C>A (p.Ser144Ter)
|
rs753611452
|
|
NM_000637.5(GSR):c.1023C>G (p.Asp341Glu)
|
|
|
NM_000637.5(GSR):c.1054G>A (p.Asp352Asn)
|
|
|
NM_000637.5(GSR):c.1060A>G (p.Lys354Glu)
|
|
|
NM_000637.5(GSR):c.1081G>A (p.Glu361Lys)
|
|
|
NM_000637.5(GSR):c.1171C>T (p.Arg391Ter)
|
|
|
NM_000637.5(GSR):c.1196A>C (p.Glu399Ala)
|
|
|
NM_000637.5(GSR):c.1256C>T (p.Pro419Leu)
|
|
|
NM_000637.5(GSR):c.1358C>T (p.Ala453Val)
|
|
|
NM_000637.5(GSR):c.1486A>C (p.Lys496Gln)
|
|
|
NM_000637.5(GSR):c.1525G>A (p.Ala509Thr)
|
|
|
NM_000637.5(GSR):c.172G>T (p.Ala58Ser)
|
|
|
NM_000637.5(GSR):c.227_253dup (p.Ala84_Glu85insGlyLeuAlaSerAlaArgArgAlaAla)
|
|
|
NM_000637.5(GSR):c.372T>C (p.His124=)
|
|
|
NM_000637.5(GSR):c.395C>T (p.Pro132Leu)
|
|
|
NM_000637.5(GSR):c.433G>A (p.Glu145Lys)
|
|
|
NM_000637.5(GSR):c.439C>G (p.Arg147Gly)
|
rs150594097
|
|
NM_000637.5(GSR):c.476A>T (p.Gln159Leu)
|
|
|
NM_000637.5(GSR):c.512G>T (p.Arg171Leu)
|
rs766106295
|
|
NM_000637.5(GSR):c.698G>A (p.Arg233His)
|
rs750234827
|
|
NM_000637.5(GSR):c.781A>G (p.Ile261Val)
|
|
|
NM_000637.5(GSR):c.815C>T (p.Ser272Leu)
|
|
|
NM_000637.5(GSR):c.94G>T (p.Glu32Ter)
|
|
|
NM_000791.4(DHFR):c.335T>G (p.Met112Arg)
|
|
|
NM_000969.5(RPL5):c.-2G>A
|
rs886046558
|
|
NM_000969.5(RPL5):c.-46C>G
|
rs376208311
|
|
NM_000969.5(RPL5):c.-64C>G
|
rs1006135937
|
|
NM_000969.5(RPL5):c.-70T>A
|
rs551112484
|
|
NM_000969.5(RPL5):c.-74C>A
|
rs752282235
|
|
NM_000969.5(RPL5):c.118G>A (p.Asp40Asn)
|
rs1553285006
|
|
NM_000969.5(RPL5):c.161G>C (p.Arg54Pro)
|
|
|
NM_000969.5(RPL5):c.170A>G (p.Asn57Ser)
|
rs1553285028
|
|
NM_000969.5(RPL5):c.179T>C (p.Ile60Thr)
|
|
|
NM_000969.5(RPL5):c.189+5G>A
|
|
|
NM_000969.5(RPL5):c.190-3T>C
|
|
|
NM_000969.5(RPL5):c.192T>G (p.Ile64Met)
|
|
|
NM_000969.5(RPL5):c.208G>A (p.Glu70Lys)
|
|
|
NM_000969.5(RPL5):c.220A>G (p.Ile74Val)
|
|
|
NM_000969.5(RPL5):c.225C>G (p.Val75=)
|
rs2100680579
|
|
NM_000969.5(RPL5):c.232G>A (p.Ala78Thr)
|
|
|
NM_000969.5(RPL5):c.233C>G (p.Ala78Gly)
|
|
|
NM_000969.5(RPL5):c.236A>T (p.Tyr79Phe)
|
|
|
NM_000969.5(RPL5):c.244G>A (p.Glu82Lys)
|
rs587777117
|
|
NM_000969.5(RPL5):c.251C>G (p.Pro84Arg)
|
rs970129317
|
|
NM_000969.5(RPL5):c.257A>G (p.Tyr86Cys)
|
|
|
NM_000969.5(RPL5):c.298T>G (p.Cys100Gly)
|
rs2100680814
|
|
NM_000969.5(RPL5):c.3+11G>C
|
rs376414614
|
|
NM_000969.5(RPL5):c.3+3G>A
|
|
|
NM_000969.5(RPL5):c.3+3G>T
|
rs200628272
|
|
NM_000969.5(RPL5):c.3+5G>A
|
|
|
NM_000969.5(RPL5):c.3+5G>C
|
|
|
NM_000969.5(RPL5):c.316G>A (p.Ala106Thr)
|
rs1687056401
|
|
NM_000969.5(RPL5):c.319C>T (p.Arg107Cys)
|
|
|
NM_000969.5(RPL5):c.325-14G>A
|
|
|
NM_000969.5(RPL5):c.332A>G (p.Asn111Ser)
|
|
|
NM_000969.5(RPL5):c.335G>A (p.Arg112Lys)
|
|
|
NM_000969.5(RPL5):c.344T>C (p.Met115Thr)
|
rs1687118423
|
|
NM_000969.5(RPL5):c.35A>G (p.Tyr12Cys)
|
rs1686991615
|
|
NM_000969.5(RPL5):c.367G>C (p.Val123Leu)
|
|
|
NM_000969.5(RPL5):c.377C>T (p.Thr126Ile)
|
|
|
NM_000969.5(RPL5):c.391A>G (p.Asn131Asp)
|
|
|
NM_000969.5(RPL5):c.4-10T>C
|
rs1686989669
|
|
NM_000969.5(RPL5):c.400A>C (p.Ser134Arg)
|
rs1687120549
|
|
NM_000969.5(RPL5):c.404T>C (p.Ile135Thr)
|
rs771599532
|
|
NM_000969.5(RPL5):c.415C>T (p.Pro139Ser)
|
|
|
NM_000969.5(RPL5):c.419G>A (p.Gly140Asp)
|
rs367631074
|
|
NM_000969.5(RPL5):c.426C>G (p.Phe142Leu)
|
rs11540836
|
|
NM_000969.5(RPL5):c.427A>G (p.Thr143Ala)
|
|
|
NM_000969.5(RPL5):c.443C>T (p.Ala148Val)
|
|
|
NM_000969.5(RPL5):c.448C>T (p.Leu150Phe)
|
|
|
NM_000969.5(RPL5):c.528-1G>A
|
|
|
NM_000969.5(RPL5):c.556G>C (p.Glu186Gln)
|
|
|
NM_000969.5(RPL5):c.559A>C (p.Ser187Arg)
|
|
|
NM_000969.5(RPL5):c.566A>G (p.Glu189Gly)
|
|
|
NM_000969.5(RPL5):c.567A>C (p.Glu189Asp)
|
|
|
NM_000969.5(RPL5):c.583C>A (p.His195Asn)
|
|
|
NM_000969.5(RPL5):c.586C>T (p.Arg196Trp)
|
|
|
NM_000969.5(RPL5):c.598A>G (p.Met200Val)
|
|
|
NM_000969.5(RPL5):c.601G>A (p.Gly201Ser)
|
|
|
NM_000969.5(RPL5):c.611T>C (p.Val204Ala)
|
rs1687176905
|
|
NM_000969.5(RPL5):c.613G>A (p.Ala205Thr)
|
rs1571031819
|
|
NM_000969.5(RPL5):c.614C>G (p.Ala205Gly)
|
|
|
NM_000969.5(RPL5):c.626G>T (p.Arg209Leu)
|
|
|
NM_000969.5(RPL5):c.631T>A (p.Leu211Ile)
|
|
|
NM_000969.5(RPL5):c.674A>C (p.Gln225Pro)
|
rs1687179289
|
|
NM_000969.5(RPL5):c.695C>T (p.Thr232Ile)
|
|
|
NM_000969.5(RPL5):c.700G>T (p.Asp234Tyr)
|
rs938367538
|
|
NM_000969.5(RPL5):c.701A>G (p.Asp234Gly)
|
rs576330538
|
|
NM_000969.5(RPL5):c.703A>G (p.Met235Val)
|
|
|
NM_000969.5(RPL5):c.705+4A>G
|
|
|
NM_000969.5(RPL5):c.705G>A (p.Met235Ile)
|
|
|
NM_000969.5(RPL5):c.715A>G (p.Met239Val)
|
|
|
NM_000969.5(RPL5):c.718T>C (p.Tyr240His)
|
rs2100696942
|
|
NM_000969.5(RPL5):c.72A>G (p.Arg24=)
|
|
|
NM_000969.5(RPL5):c.761A>G (p.Glu254Gly)
|
|
|
NM_000969.5(RPL5):c.763AAG[1] (p.Lys256del)
|
rs1571038275
|
|
NM_000969.5(RPL5):c.779A>C (p.Glu260Ala)
|
|
|
NM_000969.5(RPL5):c.785A>G (p.Lys262Arg)
|
|
|
NM_000969.5(RPL5):c.788A>G (p.Lys263Arg)
|
|
|
NM_000969.5(RPL5):c.831G>T (p.Lys277Asn)
|
|
|
NM_000969.5(RPL5):c.832G>A (p.Asp278Asn)
|
rs764283613
|
|
NM_000969.5(RPL5):c.838G>A (p.Val280Ile)
|
rs1687377449
|
|
NM_000969.5(RPL5):c.854C>A (p.Ala285Glu)
|
|
|
NM_000969.5(RPL5):c.856A>G (p.Ser286Gly)
|
|
|
NM_000969.5(RPL5):c.858C>T (p.Ser286=)
|
|
|
NM_000969.5(RPL5):c.868G>A (p.Ala290Thr)
|
rs1060503545
|
|
NM_000969.5(RPL5):c.877C>T (p.Arg293Trp)
|
|
|
NM_000969.5(RPL5):c.889A>C (p.Ser297Arg)
|
|
|
NM_000969.5(RPL5):c.890_893dup (p.Ter298=)
|
rs1687379541
|
|
NM_000969.5(RPL5):c.891C>A (p.Ser297Arg)
|
|
|
NM_000975.5(RPL11):c.139A>G (p.Thr47Ala)
|
|
|
NM_000975.5(RPL11):c.142C>T (p.Pro48Ser)
|
|
|
NM_000975.5(RPL11):c.14A>G (p.Gln5Arg)
|
rs775235867
|
|
NM_000975.5(RPL11):c.203T>C (p.Ile68Thr)
|
rs1644517016
|
|
NM_000975.5(RPL11):c.214T>C (p.Cys72Arg)
|
|
|
NM_000975.5(RPL11):c.217A>G (p.Thr73Ala)
|
|
|
NM_000975.5(RPL11):c.236C>T (p.Ala79Val)
|
|
|
NM_000975.5(RPL11):c.238GAA[1] (p.Glu81del)
|
|
|
NM_000975.5(RPL11):c.264+3G>A
|
|
|
NM_000975.5(RPL11):c.264+4A>T
|
|
|
NM_000975.5(RPL11):c.269G>A (p.Arg90Gln)
|
rs757131066
|
|
NM_000975.5(RPL11):c.270G>A (p.Arg90=)
|
rs886046308
|
|
NM_000975.5(RPL11):c.28A>T (p.Asn10Tyr)
|
|
|
NM_000975.5(RPL11):c.325A>G (p.Ile109Val)
|
|
|
NM_000975.5(RPL11):c.38G>A (p.Arg13Gln)
|
|
|
NM_000975.5(RPL11):c.396+3A>G
|
|
|
NM_000975.5(RPL11):c.397-11_397-10delinsAT
|
|
|
NM_000975.5(RPL11):c.400C>A (p.Leu134Met)
|
rs1644529675
|
|
NM_000975.5(RPL11):c.430AAG[1] (p.Lys145del)
|
|
|
NM_000975.5(RPL11):c.431A>G (p.Lys144Arg)
|
|
|
NM_000975.5(RPL11):c.437G>A (p.Arg146His)
|
|
|
NM_000975.5(RPL11):c.437G>T (p.Arg146Leu)
|
|
|
NM_000975.5(RPL11):c.463_508-69del
|
|
|
NM_000975.5(RPL11):c.478G>C (p.Glu160Gln)
|
|
|
NM_000975.5(RPL11):c.490C>T (p.Arg164Cys)
|
|
|
NM_000975.5(RPL11):c.4G>T (p.Ala2Ser)
|
rs1553121574
|
|
NM_000975.5(RPL11):c.508-3C>G
|
|
|
NM_000975.5(RPL11):c.508-9_508-5del
|
|
|
NM_000975.5(RPL11):c.518T>A (p.Ile173Asn)
|
|
|
NM_000975.5(RPL11):c.53_58del (p.Arg18_Lys19del)
|
|
|
NM_000975.5(RPL11):c.6+3G>A
|
|
|
NM_000975.5(RPL11):c.68A>G (p.Asn23Ser)
|
rs2124429076
|
|
NM_000975.5(RPL11):c.7-1G>T
|
rs1644507858
|
|
NM_000975.5(RPL11):c.7C>G (p.Gln3Glu)
|
|
|
NM_000975.5(RPL11):c.9G>A (p.Gln3=)
|
|
|
NM_000987.5(RPL26):c.107A>T (p.Lys36Ile)
|
|
|
NM_000987.5(RPL26):c.130G>T (p.Val44Leu)
|
rs2151675473
|
|
NM_000987.5(RPL26):c.133C>G (p.Arg45Gly)
|
|
|
NM_000987.5(RPL26):c.139A>G (p.Met47Val)
|
rs2151675468
|
|
NM_000987.5(RPL26):c.145A>G (p.Ile49Val)
|
rs1193599772
|
|
NM_000987.5(RPL26):c.168+4T>G
|
|
|
NM_000987.5(RPL26):c.168+6T>G
|
|
|
NM_000987.5(RPL26):c.251G>C (p.Arg84Pro)
|
|
|
NM_000987.5(RPL26):c.286C>T (p.His96Tyr)
|
|
|
NM_000987.5(RPL26):c.29A>C (p.Asp10Ala)
|
|
|
NM_000987.5(RPL26):c.309+13_309+14delinsCT
|
|
|
NM_000987.5(RPL26):c.313G>A (p.Val105Ile)
|
|
|
NM_000987.5(RPL26):c.332T>C (p.Leu111Pro)
|
|
|
NM_000987.5(RPL26):c.349A>C (p.Lys117Gln)
|
|
|
NM_000987.5(RPL26):c.352A>T (p.Ile118Phe)
|
|
|
NM_000987.5(RPL26):c.359A>G (p.Glu120Gly)
|
rs1907207139
|
|
NM_000987.5(RPL26):c.361C>T (p.Arg121Trp)
|
rs763691423
|
|
NM_000987.5(RPL26):c.371A>C (p.Lys124Thr)
|
|
|
NM_000987.5(RPL26):c.377G>A (p.Arg126His)
|
rs932068728
|
|
NM_000987.5(RPL26):c.377G>C (p.Arg126Pro)
|
|
|
NM_000987.5(RPL26):c.382G>A (p.Val128Ile)
|
|
|
NM_000987.5(RPL26):c.388A>G (p.Lys130Glu)
|
|
|
NM_000987.5(RPL26):c.416C>T (p.Thr139Ile)
|
|
|
NM_000987.5(RPL26):c.436T>G (p.Ter146Glu)
|
|
|
NM_000987.5(RPL26):c.44G>T (p.Arg15Leu)
|
|
|
NM_000987.5(RPL26):c.58A>G (p.Asn20Asp)
|
|
|
NM_000987.5(RPL26):c.83A>G (p.Lys28Arg)
|
|
|
NM_000988.5(RPL27):c.40C>G (p.Leu14Val)
|
|
|
NM_000996.4(RPL35A):c.-32-2A>T
|
|
|
NM_000996.4(RPL35A):c.-37T>G
|
rs886058265
|
|
NM_000996.4(RPL35A):c.109G>A (p.Asp37Asn)
|
rs1401367420
|
|
NM_000996.4(RPL35A):c.11+3A>G
|
|
|
NM_000996.4(RPL35A):c.11+4C>T
|
|
|
NM_000996.4(RPL35A):c.11+6C>A
|
|
|
NM_000996.4(RPL35A):c.125A>G (p.Tyr42Cys)
|
|
|
NM_000996.4(RPL35A):c.125A>T (p.Tyr42Phe)
|
|
|
NM_000996.4(RPL35A):c.138A>G (p.Arg46=)
|
|
|
NM_000996.4(RPL35A):c.141C>G (p.Cys47Trp)
|
|
|
NM_000996.4(RPL35A):c.158C>G (p.Ala53Gly)
|
|
|
NM_000996.4(RPL35A):c.162G>T (p.Lys54Asn)
|
|
|
NM_000996.4(RPL35A):c.16T>C (p.Trp6Arg)
|
|
|
NM_000996.4(RPL35A):c.184G>A (p.Gly62Ser)
|
|
|
NM_000996.4(RPL35A):c.202A>G (p.Arg68Gly)
|
|
|
NM_000996.4(RPL35A):c.209T>C (p.Ile70Thr)
|
|
|
NM_000996.4(RPL35A):c.227G>A (p.Arg76Gln)
|
|
|
NM_000996.4(RPL35A):c.227G>C (p.Arg76Pro)
|
|
|
NM_000996.4(RPL35A):c.251T>A (p.Val84Asp)
|
|
|
NM_000996.4(RPL35A):c.253C>T (p.Arg85Cys)
|
|
|
NM_000996.4(RPL35A):c.271A>G (p.Asn91Asp)
|
rs1560123334
|
|
NM_000996.4(RPL35A):c.278C>T (p.Pro93Leu)
|
|
|
NM_000996.4(RPL35A):c.289A>G (p.Ile97Val)
|
|
|
NM_000996.4(RPL35A):c.301A>G (p.Ile101Val)
|
|
|
NM_000996.4(RPL35A):c.308T>C (p.Val103Ala)
|
|
|
NM_000996.4(RPL35A):c.309+3G>C
|
|
|
NM_000996.4(RPL35A):c.309+4A>T
|
rs1270507770
|
|
NM_000996.4(RPL35A):c.320C>T (p.Pro107Leu)
|
rs2109818973
|
|
NM_000996.4(RPL35A):c.41A>G (p.Tyr14Cys)
|
|
|
NM_000996.4(RPL35A):c.41A>T (p.Tyr14Phe)
|
rs1366033915
|
|
NM_000996.4(RPL35A):c.44A>G (p.Lys15Arg)
|
|
|
NM_000996.4(RPL35A):c.77C>T (p.Ala26Val)
|
rs2109804811
|
|
NM_000996.4(RPL35A):c.79CTT[1] (p.Leu28del)
|
rs116840807
|
|
NM_000996.4(RPL35A):c.85A>G (p.Lys29Glu)
|
|
|
NM_001002010.5(NT5C3A):c.139-9048_139-9037del
|
|
|
NM_001002010.5(NT5C3A):c.142C>A (p.Pro48Thr)
|
|
|
NM_001002010.5(NT5C3A):c.254A>T (p.Asp85Val)
|
|
|
NM_001002010.5(NT5C3A):c.268A>G (p.Arg90Gly)
|
|
|
NM_001002010.5(NT5C3A):c.362A>C (p.Gln121Pro)
|
|
|
NM_001002010.5(NT5C3A):c.430A>G (p.Met144Val)
|
|
|
NM_001002010.5(NT5C3A):c.520G>A (p.Val174Ile)
|
|
|
NM_001002010.5(NT5C3A):c.544A>C (p.Asn182His)
|
|
|
NM_001002010.5(NT5C3A):c.554A>G (p.Asp185Gly)
|
|
|
NM_001002010.5(NT5C3A):c.599G>T (p.Gly200Val)
|
|
|
NM_001002010.5(NT5C3A):c.607G>A (p.Asp203Asn)
|
|
|
NM_001002010.5(NT5C3A):c.628C>T (p.Arg210Cys)
|
|
|
NM_001002010.5(NT5C3A):c.670A>C (p.Asn224His)
|
rs2127993476
|
|
NM_001002010.5(NT5C3A):c.686A>T (p.Asp229Val)
|
rs1583891936
|
|
NM_001002010.5(NT5C3A):c.697G>T (p.Val233Leu)
|
|
|
NM_001002010.5(NT5C3A):c.809T>C (p.Leu270Pro)
|
|
|
NM_001002010.5(NT5C3A):c.903G>C (p.Glu301Asp)
|
|
|
NM_001002010.5(NT5C3A):c.921_953dup (p.Glu318_Ser319insAspSerTyrAspIleValLeuValGlnAspGlu)
|
|
|
NM_001011.4(RPS7):c.-19+1del
|
|
|
NM_001011.4(RPS7):c.-19G>C
|
|
|
NM_001011.4(RPS7):c.-23G>A
|
rs886055985
|
|
NM_001011.4(RPS7):c.-44C>T
|
rs563293592
|
|
NM_001011.4(RPS7):c.113C>T (p.Ala38Val)
|
rs929660330
|
|
NM_001011.4(RPS7):c.118C>G (p.Leu40Val)
|
|
|
NM_001011.4(RPS7):c.118C>T (p.Leu40Phe)
|
|
|
NM_001011.4(RPS7):c.133A>G (p.Ile45Val)
|
rs1661264441
|
|
NM_001011.4(RPS7):c.142G>T (p.Ala48Ser)
|
|
|
NM_001011.4(RPS7):c.147+5G>C
|
|
|
NM_001011.4(RPS7):c.147+6C>T
|
rs760987417
|
|
NM_001011.4(RPS7):c.148-7_148-6delinsAA
|
|
|
NM_001011.4(RPS7):c.14G>A (p.Ser5Asn)
|
rs2147819095
|
|
NM_001011.4(RPS7):c.156A>C (p.Glu52Asp)
|
rs1178926489
|
|
NM_001011.4(RPS7):c.157G>A (p.Val53Ile)
|
rs144178741
|
|
NM_001011.4(RPS7):c.169C>T (p.Arg57Trp)
|
rs756780024
|
|
NM_001011.4(RPS7):c.178A>G (p.Ile60Val)
|
|
|
NM_001011.4(RPS7):c.204A>G (p.Gln68=)
|
|
|
NM_001011.4(RPS7):c.230T>C (p.Val77Ala)
|
|
|
NM_001011.4(RPS7):c.238G>A (p.Val80Ile)
|
|
|
NM_001011.4(RPS7):c.263G>T (p.Ser88Ile)
|
rs2147819948
|
|
NM_001011.4(RPS7):c.274GTC[1] (p.Val93del)
|
rs1553342919
|
|
NM_001011.4(RPS7):c.277G>A (p.Val93Ile)
|
rs2147819964
|
|
NM_001011.4(RPS7):c.282T>A (p.Phe94Leu)
|
|
|
NM_001011.4(RPS7):c.311C>T (p.Pro104Leu)
|
rs1405342101
|
|
NM_001011.4(RPS7):c.31C>T (p.Pro11Ser)
|
rs1661256950
|
|
NM_001011.4(RPS7):c.333A>C (p.Lys111Asn)
|
|
|
NM_001011.4(RPS7):c.34A>C (p.Asn12His)
|
rs1661257045
|
|
NM_001011.4(RPS7):c.356+6T>C
|
rs2147820884
|
|
NM_001011.4(RPS7):c.357-3del
|
rs140914434
|
|
NM_001011.4(RPS7):c.357-3dup
|
rs140914434
|
|
NM_001011.4(RPS7):c.392A>T (p.Glu131Val)
|
|
|
NM_001011.4(RPS7):c.398T>C (p.Leu133Ser)
|
|
|
NM_001011.4(RPS7):c.406C>G (p.Pro136Ala)
|
rs1661370560
|
|
NM_001011.4(RPS7):c.434G>A (p.Arg145His)
|
|
|
NM_001011.4(RPS7):c.455G>C (p.Arg152Pro)
|
rs1241543942
|
|
NM_001011.4(RPS7):c.479A>G (p.Lys160Arg)
|
|
|
NM_001011.4(RPS7):c.49G>C (p.Asp17His)
|
|
|
NM_001011.4(RPS7):c.508-12_508-9del
|
rs747706059
|
|
NM_001011.4(RPS7):c.508-9_508-5del
|
|
|
NM_001011.4(RPS7):c.508G>T (p.Val170Phe)
|
|
|
NM_001011.4(RPS7):c.518T>C (p.Phe173Ser)
|
rs1558474062
|
|
NM_001011.4(RPS7):c.519T>A (p.Phe173Leu)
|
rs1572360947
|
|
NM_001011.4(RPS7):c.520T>G (p.Ser174Ala)
|
rs1367450977
|
|
NM_001011.4(RPS7):c.521C>G (p.Ser174Cys)
|
rs14742
|
|
NM_001011.4(RPS7):c.539T>A (p.Leu180His)
|
rs1553343210
|
|
NM_001011.4(RPS7):c.542C>T (p.Thr181Met)
|
|
|
NM_001011.4(RPS7):c.545G>A (p.Gly182Asp)
|
|
|
NM_001011.4(RPS7):c.79C>A (p.Leu27Ile)
|
|
|
NM_001011.4(RPS7):c.79C>T (p.Leu27Phe)
|
rs758369264
|
|
NM_001014.5(RPS10):c.-32del
|
rs767826894
|
|
NM_001014.5(RPS10):c.-38_-37del
|
rs1581933797
|
|
NM_001014.5(RPS10):c.-9G>C
|
rs899828117
|
|
NM_001014.5(RPS10):c.106G>A (p.Ala36Thr)
|
|
|
NM_001014.5(RPS10):c.121C>A (p.Pro41Thr)
|
|
|
NM_001014.5(RPS10):c.134T>A (p.Val45Asp)
|
|
|
NM_001014.5(RPS10):c.136A>G (p.Met46Val)
|
|
|
NM_001014.5(RPS10):c.150+6_150+8del
|
|
|
NM_001014.5(RPS10):c.151-17A>G
|
|
|
NM_001014.5(RPS10):c.151-19G>A
|
|
|
NM_001014.5(RPS10):c.164G>T (p.Arg55Leu)
|
|
|
NM_001014.5(RPS10):c.168C>T (p.Gly56=)
|
rs1765897705
|
|
NM_001014.5(RPS10):c.19A>T (p.Asn7Tyr)
|
|
|
NM_001014.5(RPS10):c.202T>C (p.Tyr68His)
|
|
|
NM_001014.5(RPS10):c.222G>A (p.Glu74=)
|
rs1581931578
|
|
NM_001014.5(RPS10):c.222G>C (p.Glu74Asp)
|
|
|
NM_001014.5(RPS10):c.22C>T (p.Arg8Trp)
|
|
|
NM_001014.5(RPS10):c.26T>C (p.Ile9Thr)
|
|
|
NM_001014.5(RPS10):c.282_284dup (p.Arg96_Ser97insArg)
|
|
|
NM_001014.5(RPS10):c.289_294dup (p.Arg98_Pro99insSerArg)
|
|
|
NM_001014.5(RPS10):c.291C>G (p.Ser97Arg)
|
|
|
NM_001014.5(RPS10):c.293G>A (p.Arg98His)
|
|
|
NM_001014.5(RPS10):c.294_314dup (p.Pro106_Lys107insGluThrGlyArgProArgPro)
|
rs1765891593
|
|
NM_001014.5(RPS10):c.313C>T (p.Arg105Trp)
|
|
|
NM_001014.5(RPS10):c.317C>T (p.Pro106Leu)
|
|
|
NM_001014.5(RPS10):c.322+2_322+4dup
|
rs1554164160
|
|
NM_001014.5(RPS10):c.322+3A>G
|
rs556255412
|
|
NM_001014.5(RPS10):c.344C>T (p.Ala115Val)
|
|
|
NM_001014.5(RPS10):c.34T>C (p.Tyr12His)
|
rs2113806064
|
|
NM_001014.5(RPS10):c.364G>A (p.Ala122Thr)
|
rs886061322
|
|
NM_001014.5(RPS10):c.371G>A (p.Arg124Lys)
|
rs757956413
|
|
NM_001014.5(RPS10):c.385C>T (p.Arg129Trp)
|
rs752436029
|
|
NM_001014.5(RPS10):c.403G>T (p.Gly135Cys)
|
|
|
NM_001014.5(RPS10):c.409G>A (p.Asp137Asn)
|
|
|
NM_001014.5(RPS10):c.456+3_456+6del
|
rs1765647224
|
|
NM_001014.5(RPS10):c.457A>G (p.Arg153Gly)
|
|
|
NM_001014.5(RPS10):c.463G>A (p.Gly155Arg)
|
|
|
NM_001014.5(RPS10):c.473G>A (p.Arg158His)
|
|
|
NM_001014.5(RPS10):c.481G>T (p.Gly161Cys)
|
|
|
NM_001014.5(RPS10):c.493C>G (p.Gln165Glu)
|
|
|
NM_001014.5(RPS10):c.98C>T (p.Pro33Leu)
|
|
|
NM_001018113.3(FANCB):c.-191-13C>T
|
rs2147458807
|
|
NM_001018113.3(FANCB):c.-219G>T
|
rs373175926
|
|
NM_001018113.3(FANCB):c.1003G>A (p.Gly335Arg)
|
|
|
NM_001018113.3(FANCB):c.1009G>A (p.Gly337Arg)
|
rs2147429068
|
|
NM_001018113.3(FANCB):c.1010G>A (p.Gly337Glu)
|
|
|
NM_001018113.3(FANCB):c.1021G>A (p.Val341Ile)
|
rs2092436307
|
|
NM_001018113.3(FANCB):c.1064C>T (p.Thr355Ile)
|
|
|
NM_001018113.3(FANCB):c.1078A>G (p.Thr360Ala)
|
rs956498867
|
|
NM_001018113.3(FANCB):c.1104+4A>G
|
rs1555906676
|
|
NM_001018113.3(FANCB):c.1104G>A (p.Ser368=)
|
|
|
NM_001018113.3(FANCB):c.1105-4T>C
|
rs2147425181
|
|
NM_001018113.3(FANCB):c.1107T>G (p.Ser369Arg)
|
|
|
NM_001018113.3(FANCB):c.1130A>G (p.Asp377Gly)
|
rs2147425036
|
|
NM_001018113.3(FANCB):c.1133A>C (p.Asp378Ala)
|
rs1569088991
|
|
NM_001018113.3(FANCB):c.1177C>T (p.Pro393Ser)
|
|
|
NM_001018113.3(FANCB):c.118A>G (p.Thr40Ala)
|
|
|
NM_001018113.3(FANCB):c.1192C>A (p.Leu398Met)
|
|
|
NM_001018113.3(FANCB):c.1198-3C>T
|
|
|
NM_001018113.3(FANCB):c.1216C>T (p.Arg406Trp)
|
rs1364046604
|
|
NM_001018113.3(FANCB):c.1243A>G (p.Lys415Glu)
|
|
|
NM_001018113.3(FANCB):c.124A>G (p.Ile42Val)
|
rs2147447859
|
|
NM_001018113.3(FANCB):c.1256T>C (p.Ile419Thr)
|
|
|
NM_001018113.3(FANCB):c.1288G>A (p.Val430Ile)
|
rs1018343095
|
|
NM_001018113.3(FANCB):c.1300GAT[1] (p.Asp435del)
|
|
|
NM_001018113.3(FANCB):c.1304A>G (p.Asp435Gly)
|
|
|
NM_001018113.3(FANCB):c.1317T>A (p.Ser439Arg)
|
rs776802337
|
|
NM_001018113.3(FANCB):c.131A>C (p.His44Pro)
|
rs2092464968
|
|
NM_001018113.3(FANCB):c.1325A>C (p.Glu442Ala)
|
rs2092408275
|
|
NM_001018113.3(FANCB):c.1342C>T (p.Pro448Ser)
|
rs867778700
|
|
NM_001018113.3(FANCB):c.1369G>A (p.Val457Ile)
|
|
|
NM_001018113.3(FANCB):c.1372C>T (p.His458Tyr)
|
rs1601985554
|
|
NM_001018113.3(FANCB):c.1393T>A (p.Ser465Thr)
|
|
|
NM_001018113.3(FANCB):c.1406A>T (p.Gln469Leu)
|
|
|
NM_001018113.3(FANCB):c.1407A>G (p.Gln469=)
|
rs2092396901
|
|
NM_001018113.3(FANCB):c.1458C>G (p.Ser486Arg)
|
rs2092396657
|
|
NM_001018113.3(FANCB):c.1480A>G (p.Thr494Ala)
|
rs1601985311
|
|
NM_001018113.3(FANCB):c.1487C>G (p.Ser496Cys)
|
rs993307430
|
|
NM_001018113.3(FANCB):c.1487C>T (p.Ser496Phe)
|
rs993307430
|
|
NM_001018113.3(FANCB):c.1497G>T (p.Leu499=)
|
|
|
NM_001018113.3(FANCB):c.1501C>G (p.Leu501Val)
|
rs2147391420
|
|
NM_001018113.3(FANCB):c.1514C>G (p.Thr505Ser)
|
|
|
NM_001018113.3(FANCB):c.153C>G (p.Asp51Glu)
|
|
|
NM_001018113.3(FANCB):c.1541A>G (p.His514Arg)
|
rs1555904475
|
|
NM_001018113.3(FANCB):c.1579G>A (p.Val527Met)
|
|
|
NM_001018113.3(FANCB):c.1586A>C (p.Lys529Thr)
|
|
|
NM_001018113.3(FANCB):c.1605C>G (p.Phe535Leu)
|
rs1555904458
|
|
NM_001018113.3(FANCB):c.1613C>G (p.Pro538Arg)
|
rs2147391147
|
|
NM_001018113.3(FANCB):c.1615T>C (p.Tyr539His)
|
rs2147391126
|
|
NM_001018113.3(FANCB):c.1624C>T (p.Pro542Ser)
|
rs868761818
|
|
NM_001018113.3(FANCB):c.1652G>A (p.Arg551Lys)
|
rs2092370985
|
|
NM_001018113.3(FANCB):c.1654G>T (p.Val552Phe)
|
|
|
NM_001018113.3(FANCB):c.1655T>C (p.Val552Ala)
|
rs1569083698
|
|
NM_001018113.3(FANCB):c.1664C>T (p.Thr555Ile)
|
rs2092370867
|
|
NM_001018113.3(FANCB):c.1694T>C (p.Val565Ala)
|
|
|
NM_001018113.3(FANCB):c.16G>A (p.Ala6Thr)
|
rs5935815
|
|
NM_001018113.3(FANCB):c.1703A>C (p.His568Pro)
|
rs2092370560
|
|
NM_001018113.3(FANCB):c.1708T>C (p.Ser570Pro)
|
|
|
NM_001018113.3(FANCB):c.1727A>G (p.Gln576Arg)
|
|
|
NM_001018113.3(FANCB):c.1757C>T (p.Pro586Leu)
|
|
|
NM_001018113.3(FANCB):c.1759C>G (p.Leu587Val)
|
|
|
NM_001018113.3(FANCB):c.1765A>G (p.Thr589Ala)
|
|
|
NM_001018113.3(FANCB):c.1787C>A (p.Thr596Asn)
|
|
|
NM_001018113.3(FANCB):c.1800A>G (p.Gln600=)
|
rs2147390430
|
|
NM_001018113.3(FANCB):c.1819G>A (p.Gly607Ser)
|
|
|
NM_001018113.3(FANCB):c.1826G>A (p.Cys609Tyr)
|
|
|
NM_001018113.3(FANCB):c.1838G>C (p.Arg613Pro)
|
rs144764663
|
|
NM_001018113.3(FANCB):c.1840T>C (p.Tyr614His)
|
|
|
NM_001018113.3(FANCB):c.1858G>A (p.Val620Ile)
|
rs2092369531
|
|
NM_001018113.3(FANCB):c.1865T>C (p.Leu622Ser)
|
|
|
NM_001018113.3(FANCB):c.1929G>A (p.Glu643=)
|
rs2092368698
|
|
NM_001018113.3(FANCB):c.1930C>T (p.His644Tyr)
|
|
|
NM_001018113.3(FANCB):c.1940A>T (p.Asp647Val)
|
|
|
NM_001018113.3(FANCB):c.1991C>T (p.Ser664Leu)
|
rs1555904350
|
|
NM_001018113.3(FANCB):c.2000A>C (p.Tyr667Ser)
|
|
|
NM_001018113.3(FANCB):c.2020G>A (p.Val674Met)
|
|
|
NM_001018113.3(FANCB):c.2020G>C (p.Val674Leu)
|
rs2092368233
|
|
NM_001018113.3(FANCB):c.2021T>C (p.Val674Ala)
|
|
|
NM_001018113.3(FANCB):c.2027T>C (p.Leu676Pro)
|
rs1601977531
|
|
NM_001018113.3(FANCB):c.2035C>T (p.His679Tyr)
|
|
|
NM_001018113.3(FANCB):c.203A>G (p.Lys68Arg)
|
rs2147447567
|
|
NM_001018113.3(FANCB):c.2047G>A (p.Glu683Lys)
|
rs2147389460
|
|
NM_001018113.3(FANCB):c.2053A>G (p.Ile685Val)
|
|
|
NM_001018113.3(FANCB):c.2055C>G (p.Ile685Met)
|
|
|
NM_001018113.3(FANCB):c.2059G>T (p.Glu687Ter)
|
rs1601977510
|
|
NM_001018113.3(FANCB):c.2093G>C (p.Gly698Ala)
|
|
|
NM_001018113.3(FANCB):c.2107A>T (p.Thr703Ser)
|
rs2092367669
|
|
NM_001018113.3(FANCB):c.2125C>G (p.Gln709Glu)
|
rs1060501875
|
|
NM_001018113.3(FANCB):c.2139C>A (p.Phe713Leu)
|
|
|
NM_001018113.3(FANCB):c.2140G>A (p.Glu714Lys)
|
rs868748586
|
|
NM_001018113.3(FANCB):c.2154A>G (p.Ile718Met)
|
rs2092367373
|
|
NM_001018113.3(FANCB):c.2165+2T>G
|
rs2147389062
|
|
NM_001018113.3(FANCB):c.2165+6G>A
|
|
|
NM_001018113.3(FANCB):c.2165G>T (p.Arg722Met)
|
|
|
NM_001018113.3(FANCB):c.2168A>G (p.Asn723Ser)
|
rs1300715683
|
|
NM_001018113.3(FANCB):c.2195A>G (p.His732Arg)
|
|
|
NM_001018113.3(FANCB):c.2201TCA[1] (p.Ile735del)
|
|
|
NM_001018113.3(FANCB):c.2206A>G (p.Arg736Gly)
|
|
|
NM_001018113.3(FANCB):c.2219T>C (p.Ile740Thr)
|
|
|
NM_001018113.3(FANCB):c.2223C>G (p.Asn741Lys)
|
|
|
NM_001018113.3(FANCB):c.2224T>C (p.Cys742Arg)
|
rs2092364017
|
|
NM_001018113.3(FANCB):c.2228T>A (p.Phe743Tyr)
|
|
|
NM_001018113.3(FANCB):c.2275A>G (p.Met759Val)
|
|
|
NM_001018113.3(FANCB):c.2291A>C (p.Glu764Ala)
|
|
|
NM_001018113.3(FANCB):c.229A>G (p.Met77Val)
|
|
|
NM_001018113.3(FANCB):c.2329A>G (p.Ile777Val)
|
rs776505971
|
|
NM_001018113.3(FANCB):c.2330T>C (p.Ile777Thr)
|
|
|
NM_001018113.3(FANCB):c.2331A>G (p.Ile777Met)
|
rs1326031344
|
|
NM_001018113.3(FANCB):c.2353A>G (p.Met785Val)
|
|
|
NM_001018113.3(FANCB):c.2371A>G (p.Ser791Gly)
|
rs2147386876
|
|
NM_001018113.3(FANCB):c.2373C>G (p.Ser791Arg)
|
|
|
NM_001018113.3(FANCB):c.2373C>T (p.Ser791=)
|
rs2092363086
|
|
NM_001018113.3(FANCB):c.23C>T (p.Ser8Leu)
|
|
|
NM_001018113.3(FANCB):c.2428C>T (p.His810Tyr)
|
rs2147386628
|
|
NM_001018113.3(FANCB):c.2439A>C (p.Arg813Ser)
|
rs748392793
|
|
NM_001018113.3(FANCB):c.245T>C (p.Val82Ala)
|
rs2147447420
|
|
NM_001018113.3(FANCB):c.2467A>G (p.Met823Val)
|
|
|
NM_001018113.3(FANCB):c.2470T>G (p.Leu824Val)
|
rs1601976122
|
|
NM_001018113.3(FANCB):c.2477C>A (p.Thr826Lys)
|
rs201436396
|
|
NM_001018113.3(FANCB):c.2485A>G (p.Lys829Glu)
|
|
|
NM_001018113.3(FANCB):c.2507G>A (p.Arg836Lys)
|
|
|
NM_001018113.3(FANCB):c.2515A>G (p.Thr839Ala)
|
|
|
NM_001018113.3(FANCB):c.2553T>A (p.Phe851Leu)
|
rs759020755
|
|
NM_001018113.3(FANCB):c.2565_2569delinsTTTATAATTCTGT (p.Lys855_Ser857delinsAsnLeuTer)
|
rs2147386189
|
|
NM_001018113.3(FANCB):c.271C>T (p.Leu91Phe)
|
|
|
NM_001018113.3(FANCB):c.292A>G (p.Lys98Glu)
|
rs2092464184
|
|
NM_001018113.3(FANCB):c.299A>G (p.Lys100Arg)
|
|
|
NM_001018113.3(FANCB):c.306T>A (p.Asn102Lys)
|
rs2147447239
|
|
NM_001018113.3(FANCB):c.30C>G (p.Asn10Lys)
|
rs750078094
|
|
NM_001018113.3(FANCB):c.331A>G (p.Ile111Val)
|
|
|
NM_001018113.3(FANCB):c.350A>C (p.Lys117Thr)
|
rs1057515811
|
|
NM_001018113.3(FANCB):c.357A>T (p.Glu119Asp)
|
rs970828551
|
|
NM_001018113.3(FANCB):c.360G>A (p.Met120Ile)
|
|
|
NM_001018113.3(FANCB):c.388A>T (p.Met130Leu)
|
|
|
NM_001018113.3(FANCB):c.419C>T (p.Pro140Leu)
|
|
|
NM_001018113.3(FANCB):c.41G>A (p.Arg14Lys)
|
|
|
NM_001018113.3(FANCB):c.41G>C (p.Arg14Thr)
|
|
|
NM_001018113.3(FANCB):c.434G>C (p.Arg145Thr)
|
|
|
NM_001018113.3(FANCB):c.439G>A (p.Val147Ile)
|
|
|
NM_001018113.3(FANCB):c.445G>A (p.Ala149Thr)
|
|
|
NM_001018113.3(FANCB):c.454T>C (p.Phe152Leu)
|
rs2092463362
|
|
NM_001018113.3(FANCB):c.461C>A (p.Ser154Tyr)
|
|
|
NM_001018113.3(FANCB):c.463T>C (p.Ser155Pro)
|
|
|
NM_001018113.3(FANCB):c.469A>G (p.Thr157Ala)
|
|
|
NM_001018113.3(FANCB):c.477A>C (p.Lys159Asn)
|
rs1569092592
|
|
NM_001018113.3(FANCB):c.484A>C (p.Ser162Arg)
|
rs2147446679
|
|
NM_001018113.3(FANCB):c.490T>C (p.Ser164Pro)
|
|
|
NM_001018113.3(FANCB):c.494G>A (p.Gly165Asp)
|
|
|
NM_001018113.3(FANCB):c.49T>C (p.Cys17Arg)
|
|
|
NM_001018113.3(FANCB):c.506C>T (p.Ser169Phe)
|
|
|
NM_001018113.3(FANCB):c.508A>G (p.Ile170Val)
|
rs138251388
|
|
NM_001018113.3(FANCB):c.53A>T (p.Tyr18Phe)
|
|
|
NM_001018113.3(FANCB):c.554G>T (p.Gly185Val)
|
|
|
NM_001018113.3(FANCB):c.569G>A (p.Cys190Tyr)
|
rs2147446437
|
|
NM_001018113.3(FANCB):c.593A>C (p.Gln198Pro)
|
rs2092462570
|
|
NM_001018113.3(FANCB):c.610G>T (p.Asp204Tyr)
|
|
|
NM_001018113.3(FANCB):c.611A>C (p.Asp204Ala)
|
|
|
NM_001018113.3(FANCB):c.628A>G (p.Thr210Ala)
|
rs2092462421
|
|
NM_001018113.3(FANCB):c.634T>C (p.Phe212Leu)
|
rs2147446219
|
|
NM_001018113.3(FANCB):c.647C>G (p.Ser216Cys)
|
|
|
NM_001018113.3(FANCB):c.64G>A (p.Val22Ile)
|
|
|
NM_001018113.3(FANCB):c.659A>G (p.Gln220Arg)
|
|
|
NM_001018113.3(FANCB):c.664G>A (p.Val222Ile)
|
rs2147446099
|
|
NM_001018113.3(FANCB):c.716A>T (p.Tyr239Phe)
|
rs1555907444
|
|
NM_001018113.3(FANCB):c.722A>G (p.His241Arg)
|
rs2147445804
|
|
NM_001018113.3(FANCB):c.773C>T (p.Ala258Val)
|
|
|
NM_001018113.3(FANCB):c.77A>G (p.Gln26Arg)
|
|
|
NM_001018113.3(FANCB):c.781C>G (p.Arg261Gly)
|
|
|
NM_001018113.3(FANCB):c.782G>A (p.Arg261Gln)
|
rs1057515809
|
|
NM_001018113.3(FANCB):c.809A>G (p.Asn270Ser)
|
rs2092461325
|
|
NM_001018113.3(FANCB):c.834G>C (p.Gln278His)
|
rs1569092087
|
|
NM_001018113.3(FANCB):c.83C>G (p.Ser28Cys)
|
|
|
NM_001018113.3(FANCB):c.951G>T (p.Gln317His)
|
|
|
NM_001018113.3(FANCB):c.952-13C>T
|
rs1057515807
|
|
NM_001018113.3(FANCB):c.972A>T (p.Lys324Asn)
|
rs1456143136
|
|
NM_001018113.3(FANCB):c.977G>C (p.Ser326Thr)
|
|
|
NM_001018115.3(FANCD2):c.1009A>T (p.Ser337Cys)
|
|
|
NM_001018115.3(FANCD2):c.100A>G (p.Lys34Glu)
|
rs1394658178
|
|
NM_001018115.3(FANCD2):c.1016G>A (p.Gly339Asp)
|
rs1575749612
|
|
NM_001018115.3(FANCD2):c.1018C>G (p.Gln340Glu)
|
|
|
NM_001018115.3(FANCD2):c.1019A>G (p.Gln340Arg)
|
|
|
NM_001018115.3(FANCD2):c.1033CTC[1] (p.Leu346del)
|
rs1158786668
|
|
NM_001018115.3(FANCD2):c.103T>C (p.Ser35Pro)
|
rs773847165
|
|
NM_001018115.3(FANCD2):c.107A>G (p.His36Arg)
|
rs2124970667
|
|
NM_001018115.3(FANCD2):c.1088C>G (p.Ala363Gly)
|
|
|
NM_001018115.3(FANCD2):c.1091G>C (p.Trp364Ser)
|
rs2086921184
|
|
NM_001018115.3(FANCD2):c.1098+4A>G
|
rs664233
|
|
NM_001018115.3(FANCD2):c.1136T>C (p.Val379Ala)
|
rs1006403887
|
|
NM_001018115.3(FANCD2):c.1166A>G (p.Tyr389Cys)
|
rs2087019381
|
|
NM_001018115.3(FANCD2):c.1178C>G (p.Thr393Ser)
|
rs765339192
|
|
NM_001018115.3(FANCD2):c.118G>A (p.Glu40Lys)
|
rs2086637443
|
|
NM_001018115.3(FANCD2):c.1207C>G (p.Leu403Val)
|
rs753223864
|
|
NM_001018115.3(FANCD2):c.1223G>A (p.Arg408Gln)
|
rs370522983
|
|
NM_001018115.3(FANCD2):c.1223G>T (p.Arg408Leu)
|
|
|
NM_001018115.3(FANCD2):c.1232G>T (p.Cys411Phe)
|
rs886057663
|
|
NM_001018115.3(FANCD2):c.125A>G (p.Glu42Gly)
|
|
|
NM_001018115.3(FANCD2):c.1278+2dup
|
rs1553608861
|
|
NM_001018115.3(FANCD2):c.1278+5G>T
|
rs796652647
|
|
NM_001018115.3(FANCD2):c.1279-3A>T
|
rs1354341272
|
|
NM_001018115.3(FANCD2):c.1279G>A (p.Val427Ile)
|
rs529893298
|
|
NM_001018115.3(FANCD2):c.1345A>G (p.Ser449Gly)
|
rs2087075324
|
|
NM_001018115.3(FANCD2):c.1349T>C (p.Ile450Thr)
|
rs549790164
|
|
NM_001018115.3(FANCD2):c.1349T>G (p.Ile450Arg)
|
rs549790164
|
|
NM_001018115.3(FANCD2):c.139A>G (p.Ile47Val)
|
|
|
NM_001018115.3(FANCD2):c.1413+2T>A
|
rs1459222478
|
|
NM_001018115.3(FANCD2):c.141C>G (p.Ile47Met)
|
|
|
NM_001018115.3(FANCD2):c.1441A>G (p.Ile481Val)
|
rs2087129096
|
|
NM_001018115.3(FANCD2):c.1447A>C (p.Ser483Arg)
|
rs2087129366
|
|
NM_001018115.3(FANCD2):c.146T>G (p.Val49Gly)
|
rs780343756
|
|
NM_001018115.3(FANCD2):c.1487T>G (p.Leu496Arg)
|
rs2125006396
|
|
NM_001018115.3(FANCD2):c.1547G>T (p.Gly516Val)
|
|
|
NM_001018115.3(FANCD2):c.1549A>G (p.Ile517Val)
|
rs2087243822
|
|
NM_001018115.3(FANCD2):c.1550T>C (p.Ile517Thr)
|
rs1221998060
|
|
NM_001018115.3(FANCD2):c.1555G>A (p.Asp519Asn)
|
rs780491203
|
|
NM_001018115.3(FANCD2):c.1555G>C (p.Asp519His)
|
|
|
NM_001018115.3(FANCD2):c.1557T>G (p.Asp519Glu)
|
|
|
NM_001018115.3(FANCD2):c.1573T>G (p.Ser525Ala)
|
|
|
NM_001018115.3(FANCD2):c.1576C>T (p.Pro526Ser)
|
|
|
NM_001018115.3(FANCD2):c.1596C>T (p.Leu532=)
|
rs2087245604
|
|
NM_001018115.3(FANCD2):c.1601A>T (p.Tyr534Phe)
|
rs143701205
|
|
NM_001018115.3(FANCD2):c.1604T>C (p.Val535Ala)
|
rs2125011965
|
|
NM_001018115.3(FANCD2):c.1615C>A (p.Leu539Met)
|
|
|
NM_001018115.3(FANCD2):c.1618G>T (p.Ala540Ser)
|
rs765324038
|
|
NM_001018115.3(FANCD2):c.1625G>A (p.Ser542Asn)
|
|
|
NM_001018115.3(FANCD2):c.1650C>G (p.His550Gln)
|
|
|
NM_001018115.3(FANCD2):c.1657-5T>G
|
rs2125026589
|
|
NM_001018115.3(FANCD2):c.1663A>G (p.Met555Val)
|
|
|
NM_001018115.3(FANCD2):c.1667A>G (p.His556Arg)
|
rs1232065920
|
|
NM_001018115.3(FANCD2):c.1717A>G (p.Ile573Val)
|
|
|
NM_001018115.3(FANCD2):c.1727T>C (p.Ile576Thr)
|
|
|
NM_001018115.3(FANCD2):c.1729G>A (p.Gly577Ser)
|
|
|
NM_001018115.3(FANCD2):c.1732G>A (p.Ala578Thr)
|
rs2087530880
|
|
NM_001018115.3(FANCD2):c.1753A>G (p.Met585Val)
|
|
|
NM_001018115.3(FANCD2):c.1759G>A (p.Ala587Thr)
|
rs1553610798
|
|
NM_001018115.3(FANCD2):c.1766+4C>G
|
|
|
NM_001018115.3(FANCD2):c.1766+4C>T
|
|
|
NM_001018115.3(FANCD2):c.1796G>A (p.Arg599Lys)
|
rs1575787379
|
|
NM_001018115.3(FANCD2):c.1802A>T (p.Asn601Ile)
|
rs955122662
|
|
NM_001018115.3(FANCD2):c.1807A>C (p.Ser603Arg)
|
|
|
NM_001018115.3(FANCD2):c.1837TTG[3] (p.Leu614_Gln615insLeu)
|
|
|
NM_001018115.3(FANCD2):c.1874C>T (p.Pro625Leu)
|
rs886057690
|
|
NM_001018115.3(FANCD2):c.187G>A (p.Glu63Lys)
|
|
|
NM_001018115.3(FANCD2):c.1910A>G (p.Asn637Ser)
|
|
|
NM_001018115.3(FANCD2):c.1922A>G (p.His641Arg)
|
rs750353000
|
|
NM_001018115.3(FANCD2):c.1947+3A>G
|
|
|
NM_001018115.3(FANCD2):c.1947+6G>A
|
|
|
NM_001018115.3(FANCD2):c.1947G>A (p.Leu649=)
|
rs753041155
|
|
NM_001018115.3(FANCD2):c.1947G>C (p.Leu649=)
|
rs753041155
|
|
NM_001018115.3(FANCD2):c.1954G>A (p.Val652Ile)
|
rs1381447946
|
|
NM_001018115.3(FANCD2):c.1954G>C (p.Val652Leu)
|
rs1381447946
|
|
NM_001018115.3(FANCD2):c.1996G>A (p.Val666Met)
|
|
|
NM_001018115.3(FANCD2):c.2003C>T (p.Ser668Phe)
|
|
|
NM_001018115.3(FANCD2):c.2006G>C (p.Cys669Ser)
|
|
|
NM_001018115.3(FANCD2):c.2014C>A (p.Pro672Thr)
|
|
|
NM_001018115.3(FANCD2):c.2015C>T (p.Pro672Leu)
|
rs754258198
|
|
NM_001018115.3(FANCD2):c.2019A>T (p.Glu673Asp)
|
rs2125034174
|
|
NM_001018115.3(FANCD2):c.2020G>A (p.Gly674Ser)
|
|
|
NM_001018115.3(FANCD2):c.2021+5G>A
|
rs1243372102
|
|
NM_001018115.3(FANCD2):c.2022-5C>A
|
|
|
NM_001018115.3(FANCD2):c.2023G>C (p.Asp675His)
|
|
|
NM_001018115.3(FANCD2):c.2030C>T (p.Pro677Leu)
|
rs2087667280
|
|
NM_001018115.3(FANCD2):c.2048T>G (p.Leu683Arg)
|
|
|
NM_001018115.3(FANCD2):c.205+4_205+6del
|
|
|
NM_001018115.3(FANCD2):c.2057T>C (p.Leu686Pro)
|
|
|
NM_001018115.3(FANCD2):c.2077G>T (p.Asp693Tyr)
|
rs2125035150
|
|
NM_001018115.3(FANCD2):c.2083A>C (p.Ile695Leu)
|
rs2125035169
|
|
NM_001018115.3(FANCD2):c.2087C>T (p.Ala696Val)
|
rs2087669561
|
|
NM_001018115.3(FANCD2):c.2094CCT[1] (p.Leu700del)
|
rs869312805
|
|
NM_001018115.3(FANCD2):c.2102C>T (p.Pro701Leu)
|
|
|
NM_001018115.3(FANCD2):c.2135G>A (p.Gly712Glu)
|
|
|
NM_001018115.3(FANCD2):c.2153A>T (p.Gln718Leu)
|
|
|
NM_001018115.3(FANCD2):c.2168+5G>C
|
rs1237529867
|
|
NM_001018115.3(FANCD2):c.2176T>A (p.Ser726Thr)
|
rs1168778380
|
|
NM_001018115.3(FANCD2):c.2178T>C (p.Ser726=)
|
rs761465333
|
|
NM_001018115.3(FANCD2):c.219A>G (p.Ile73Met)
|
rs2124974577
|
|
NM_001018115.3(FANCD2):c.2215C>A (p.Leu739Ile)
|
|
|
NM_001018115.3(FANCD2):c.2218T>C (p.Cys740Arg)
|
rs368885711
|
|
NM_001018115.3(FANCD2):c.2219G>T (p.Cys740Phe)
|
|
|
NM_001018115.3(FANCD2):c.221C>T (p.Ala74Val)
|
|
|
NM_001018115.3(FANCD2):c.2221G>A (p.Val741Met)
|
|
|
NM_001018115.3(FANCD2):c.2224G>A (p.Glu742Lys)
|
|
|
NM_001018115.3(FANCD2):c.2246T>G (p.Leu749Trp)
|
rs1426222284
|
|
NM_001018115.3(FANCD2):c.2251G>A (p.Glu751Lys)
|
rs1559389326
|
|
NM_001018115.3(FANCD2):c.2252A>C (p.Glu751Ala)
|
|
|
NM_001018115.3(FANCD2):c.2255T>C (p.Ile752Thr)
|
|
|
NM_001018115.3(FANCD2):c.2276C>T (p.Pro759Leu)
|
rs758628578
|
|
NM_001018115.3(FANCD2):c.2284C>G (p.Leu762Val)
|
|
|
NM_001018115.3(FANCD2):c.2295G>A (p.Leu765=)
|
|
|
NM_001018115.3(FANCD2):c.2300C>T (p.Pro767Leu)
|
rs2087705679
|
|
NM_001018115.3(FANCD2):c.2320A>G (p.Met774Val)
|
|
|
NM_001018115.3(FANCD2):c.2321T>C (p.Met774Thr)
|
|
|
NM_001018115.3(FANCD2):c.2336G>A (p.Arg779His)
|
rs377083479
|
|
NM_001018115.3(FANCD2):c.2344A>G (p.Met782Val)
|
rs779740652
|
|
NM_001018115.3(FANCD2):c.2348G>T (p.Cys783Phe)
|
|
|
NM_001018115.3(FANCD2):c.2358A>G (p.Ile786Met)
|
rs2087707764
|
|
NM_001018115.3(FANCD2):c.2381G>A (p.Arg794Gln)
|
|
|
NM_001018115.3(FANCD2):c.2385+6C>T
|
|
|
NM_001018115.3(FANCD2):c.2386-5T>C
|
|
|
NM_001018115.3(FANCD2):c.2386A>C (p.Ile796Leu)
|
|
|
NM_001018115.3(FANCD2):c.2387T>C (p.Ile796Thr)
|
|
|
NM_001018115.3(FANCD2):c.2396C>A (p.Ala799Asp)
|
rs1193547837
|
|
NM_001018115.3(FANCD2):c.2422A>T (p.Met808Leu)
|
rs375415579
|
|
NM_001018115.3(FANCD2):c.2446T>G (p.Leu816Val)
|
rs2125039040
|
|
NM_001018115.3(FANCD2):c.2451G>C (p.Lys817Asn)
|
|
|
NM_001018115.3(FANCD2):c.2484G>C (p.Lys828Asn)
|
|
|
NM_001018115.3(FANCD2):c.2488T>G (p.Leu830Val)
|
|
|
NM_001018115.3(FANCD2):c.2495-3C>A
|
rs2125047914
|
|
NM_001018115.3(FANCD2):c.2507A>G (p.Tyr836Cys)
|
|
|
NM_001018115.3(FANCD2):c.2555C>T (p.Pro852Leu)
|
rs375827113
|
|
NM_001018115.3(FANCD2):c.2564_2569del (p.Val855_Thr856del)
|
rs1693335762
|
|
NM_001018115.3(FANCD2):c.2581A>G (p.Lys861Glu)
|
rs886057691
|
|
NM_001018115.3(FANCD2):c.2584A>C (p.Ile862Leu)
|
|
|
NM_001018115.3(FANCD2):c.2593A>C (p.Lys865Gln)
|
|
|
NM_001018115.3(FANCD2):c.259C>G (p.Pro87Ala)
|
|
|
NM_001018115.3(FANCD2):c.2605+2dup
|
rs2125048104
|
|
NM_001018115.3(FANCD2):c.2606-9A>G
|
|
|
NM_001018115.3(FANCD2):c.2609G>T (p.Arg870Met)
|
|
|
NM_001018115.3(FANCD2):c.2610G>C (p.Arg870Ser)
|
|
|
NM_001018115.3(FANCD2):c.2613A>C (p.Lys871Asn)
|
rs56041034
|
|
NM_001018115.3(FANCD2):c.2621C>G (p.Thr874Arg)
|
|
|
NM_001018115.3(FANCD2):c.2631C>G (p.Ser877Arg)
|
|
|
NM_001018115.3(FANCD2):c.2683C>T (p.Pro895Ser)
|
rs1693355244
|
|
NM_001018115.3(FANCD2):c.2687C>T (p.Thr896Met)
|
|
|
NM_001018115.3(FANCD2):c.268C>A (p.Pro90Thr)
|
|
|
NM_001018115.3(FANCD2):c.2693C>G (p.Ser898Cys)
|
rs1693356065
|
|
NM_001018115.3(FANCD2):c.2695C>T (p.His899Tyr)
|
|
|
NM_001018115.3(FANCD2):c.2705A>G (p.Gln902Arg)
|
rs766865689
|
|
NM_001018115.3(FANCD2):c.271A>G (p.Lys91Glu)
|
|
|
NM_001018115.3(FANCD2):c.2725G>A (p.Gly909Arg)
|
|
|
NM_001018115.3(FANCD2):c.2728A>G (p.Lys910Glu)
|
rs1693428697
|
|
NM_001018115.3(FANCD2):c.2732A>G (p.Glu911Gly)
|
|
|
NM_001018115.3(FANCD2):c.2741CAT[1] (p.Ser915del)
|
|
|
NM_001018115.3(FANCD2):c.2753T>C (p.Leu918Pro)
|
|
|
NM_001018115.3(FANCD2):c.2777G>A (p.Arg926Gln)
|
|
|
NM_001018115.3(FANCD2):c.2777G>T (p.Arg926Leu)
|
rs532250395
|
|
NM_001018115.3(FANCD2):c.278T>C (p.Ile93Thr)
|
|
|
NM_001018115.3(FANCD2):c.279A>G (p.Ile93Met)
|
rs1559370542
|
|
NM_001018115.3(FANCD2):c.2803A>G (p.Ile935Val)
|
rs61751578
|
|
NM_001018115.3(FANCD2):c.2816G>C (p.Gly939Ala)
|
|
|
NM_001018115.3(FANCD2):c.2826G>C (p.Thr942=)
|
rs200118565
|
|
NM_001018115.3(FANCD2):c.2833A>G (p.Ile945Val)
|
rs1365150085
|
|
NM_001018115.3(FANCD2):c.285A>C (p.Glu95Asp)
|
|
|
NM_001018115.3(FANCD2):c.2860G>T (p.Ala954Ser)
|
|
|
NM_001018115.3(FANCD2):c.2867_2869del (p.Glu956del)
|
rs1693630743
|
|
NM_001018115.3(FANCD2):c.2869G>C (p.Val957Leu)
|
rs762683227
|
|
NM_001018115.3(FANCD2):c.2882G>A (p.Gly961Glu)
|
|
|
NM_001018115.3(FANCD2):c.2908G>C (p.Glu970Gln)
|
|
|
NM_001018115.3(FANCD2):c.2932A>T (p.Ser978Cys)
|
|
|
NM_001018115.3(FANCD2):c.2933G>A (p.Ser978Asn)
|
|
|
NM_001018115.3(FANCD2):c.2937G>A (p.Met979Ile)
|
rs779245007
|
|
NM_001018115.3(FANCD2):c.2944C>T (p.Pro982Ser)
|
rs1051740558
|
|
NM_001018115.3(FANCD2):c.2947C>T (p.Pro983Ser)
|
|
|
NM_001018115.3(FANCD2):c.2959A>G (p.Arg987Gly)
|
|
|
NM_001018115.3(FANCD2):c.2971C>G (p.Leu991Val)
|
rs1575817874
|
|
NM_001018115.3(FANCD2):c.2971C>T (p.Leu991Phe)
|
|
|
NM_001018115.3(FANCD2):c.2977-14T>A
|
rs2125059347
|
|
NM_001018115.3(FANCD2):c.2978A>G (p.Asn993Ser)
|
|
|
NM_001018115.3(FANCD2):c.2985A>T (p.Gly995=)
|
rs1575823725
|
|
NM_001018115.3(FANCD2):c.2988C>A (p.Ser996Arg)
|
|
|
NM_001018115.3(FANCD2):c.2992A>T (p.Asn998Tyr)
|
|
|
NM_001018115.3(FANCD2):c.2995A>G (p.Ile999Val)
|
|
|
NM_001018115.3(FANCD2):c.3005C>T (p.Ser1002Leu)
|
|
|
NM_001018115.3(FANCD2):c.3014A>G (p.Gln1005Arg)
|
rs964376104
|
|
NM_001018115.3(FANCD2):c.3020G>T (p.Arg1007Ile)
|
rs901861823
|
|
NM_001018115.3(FANCD2):c.3043T>C (p.Cys1015Arg)
|
rs2125059575
|
|
NM_001018115.3(FANCD2):c.3049T>G (p.Phe1017Val)
|
|
|
NM_001018115.3(FANCD2):c.3051T>A (p.Phe1017Leu)
|
|
|
NM_001018115.3(FANCD2):c.3075C>A (p.Asn1025Lys)
|
|
|
NM_001018115.3(FANCD2):c.3139G>A (p.Gly1047Arg)
|
rs1693825081
|
|
NM_001018115.3(FANCD2):c.3151A>G (p.Lys1051Glu)
|
rs2125060028
|
|
NM_001018115.3(FANCD2):c.3155T>A (p.Val1052Asp)
|
|
|
NM_001018115.3(FANCD2):c.3169A>G (p.Ile1057Val)
|
|
|
NM_001018115.3(FANCD2):c.3181T>C (p.Cys1061Arg)
|
rs1693827482
|
|
NM_001018115.3(FANCD2):c.3197T>C (p.Leu1066Pro)
|
|
|
NM_001018115.3(FANCD2):c.3201G>T (p.Gln1067His)
|
|
|
NM_001018115.3(FANCD2):c.3203T>C (p.Ile1068Thr)
|
rs2125060186
|
|
NM_001018115.3(FANCD2):c.3208C>G (p.His1070Asp)
|
rs201184977
|
|
NM_001018115.3(FANCD2):c.3208C>T (p.His1070Tyr)
|
|
|
NM_001018115.3(FANCD2):c.3209A>C (p.His1070Pro)
|
|
|
NM_001018115.3(FANCD2):c.3209A>G (p.His1070Arg)
|
rs759516610
|
|
NM_001018115.3(FANCD2):c.3242C>T (p.Pro1081Leu)
|
|
|
NM_001018115.3(FANCD2):c.3274C>T (p.His1092Tyr)
|
|
|
NM_001018115.3(FANCD2):c.3292C>A (p.Leu1098Met)
|
|
|
NM_001018115.3(FANCD2):c.3306A>C (p.Glu1102Asp)
|
|
|
NM_001018115.3(FANCD2):c.3319T>G (p.Leu1107Val)
|
|
|
NM_001018115.3(FANCD2):c.3323A>G (p.Glu1108Gly)
|
|
|
NM_001018115.3(FANCD2):c.3325G>A (p.Glu1109Lys)
|
|
|
NM_001018115.3(FANCD2):c.3335+3G>A
|
|
|
NM_001018115.3(FANCD2):c.334A>C (p.Asn112His)
|
rs2086689020
|
|
NM_001018115.3(FANCD2):c.3351C>T (p.Tyr1117=)
|
rs566518051
|
|
NM_001018115.3(FANCD2):c.3355C>A (p.Gln1119Lys)
|
rs1031970731
|
|
NM_001018115.3(FANCD2):c.3371G>C (p.Ser1124Thr)
|
|
|
NM_001018115.3(FANCD2):c.3426G>A (p.Leu1142=)
|
|
|
NM_001018115.3(FANCD2):c.3460A>G (p.Lys1154Glu)
|
|
|
NM_001018115.3(FANCD2):c.3462A>C (p.Lys1154Asn)
|
rs1559403678
|
|
NM_001018115.3(FANCD2):c.3466+6G>A
|
|
|
NM_001018115.3(FANCD2):c.3467-3C>A
|
rs1694370265
|
|
NM_001018115.3(FANCD2):c.3467-8T>G
|
rs2125076487
|
|
NM_001018115.3(FANCD2):c.3494G>A (p.Arg1165Gln)
|
rs549507714
|
|
NM_001018115.3(FANCD2):c.3507T>G (p.Ser1169Arg)
|
rs1373304921
|
|
NM_001018115.3(FANCD2):c.350G>C (p.Cys117Ser)
|
|
|
NM_001018115.3(FANCD2):c.3533C>G (p.Ser1178Cys)
|
rs1472283913
|
|
NM_001018115.3(FANCD2):c.3535A>G (p.Asn1179Asp)
|
rs949980921
|
|
NM_001018115.3(FANCD2):c.3551C>A (p.Ala1184Asp)
|
|
|
NM_001018115.3(FANCD2):c.3565T>A (p.Tyr1189Asn)
|
rs1273519317
|
|
NM_001018115.3(FANCD2):c.356G>C (p.Arg119Pro)
|
|
|
NM_001018115.3(FANCD2):c.3584G>C (p.Ser1195Thr)
|
|
|
NM_001018115.3(FANCD2):c.3586A>G (p.Ile1196Val)
|
rs1339689117
|
|
NM_001018115.3(FANCD2):c.35A>T (p.Asp12Val)
|
rs2086517367
|
|
NM_001018115.3(FANCD2):c.3623T>A (p.Val1208Asp)
|
|
|
NM_001018115.3(FANCD2):c.3643C>T (p.Pro1215Ser)
|
rs941244378
|
|
NM_001018115.3(FANCD2):c.365A>C (p.Asp122Ala)
|
|
|
NM_001018115.3(FANCD2):c.3683+5G>C
|
|
|
NM_001018115.3(FANCD2):c.3694GTT[1] (p.Val1233del)
|
|
|
NM_001018115.3(FANCD2):c.3707G>T (p.Arg1236Leu)
|
|
|
NM_001018115.3(FANCD2):c.3713T>A (p.Met1238Lys)
|
|
|
NM_001018115.3(FANCD2):c.3716T>A (p.Met1239Lys)
|
rs1694512844
|
|
NM_001018115.3(FANCD2):c.377+6G>A
|
|
|
NM_001018115.3(FANCD2):c.3776A>T (p.Gln1259Leu)
|
rs1486214768
|
|
NM_001018115.3(FANCD2):c.3777+5G>A
|
rs368999017
|
|
NM_001018115.3(FANCD2):c.378-3C>T
|
rs74923817
|
|
NM_001018115.3(FANCD2):c.3788A>G (p.Glu1263Gly)
|
rs886057692
|
|
NM_001018115.3(FANCD2):c.3793C>T (p.Leu1265Phe)
|
rs749410557
|
|
NM_001018115.3(FANCD2):c.3793CTC[1] (p.Leu1266del)
|
rs2125086057
|
|
NM_001018115.3(FANCD2):c.3802T>G (p.Trp1268Gly)
|
rs1196009515
|
|
NM_001018115.3(FANCD2):c.383G>A (p.Gly128Asp)
|
rs760551106
|
|
NM_001018115.3(FANCD2):c.3848A>G (p.Lys1283Arg)
|
rs762148969
|
|
NM_001018115.3(FANCD2):c.3849+12_3849+13delinsAG
|
|
|
NM_001018115.3(FANCD2):c.3860G>C (p.Ser1287Thr)
|
|
|
NM_001018115.3(FANCD2):c.3869T>C (p.Val1290Ala)
|
rs2125088623
|
|
NM_001018115.3(FANCD2):c.386C>T (p.Ala129Val)
|
|
|
NM_001018115.3(FANCD2):c.3888+5G>A
|
|
|
NM_001018115.3(FANCD2):c.3889-5_3889-3del
|
rs2125090590
|
|
NM_001018115.3(FANCD2):c.3925T>G (p.Cys1309Gly)
|
|
|
NM_001018115.3(FANCD2):c.3934C>T (p.Leu1312Phe)
|
rs2125090749
|
|
NM_001018115.3(FANCD2):c.3946A>C (p.Ser1316Arg)
|
|
|
NM_001018115.3(FANCD2):c.3958C>T (p.His1320Tyr)
|
rs2125090799
|
|
NM_001018115.3(FANCD2):c.3962G>A (p.Arg1321Gln)
|
rs147205530
|
|
NM_001018115.3(FANCD2):c.3962G>C (p.Arg1321Pro)
|
rs147205530
|
|
NM_001018115.3(FANCD2):c.3970G>A (p.Val1324Ile)
|
|
|
NM_001018115.3(FANCD2):c.4016A>C (p.His1339Pro)
|
rs1559408827
|
|
NM_001018115.3(FANCD2):c.4022T>G (p.Leu1341Arg)
|
|
|
NM_001018115.3(FANCD2):c.4067A>G (p.His1356Arg)
|
rs1348547984
|
|
NM_001018115.3(FANCD2):c.4105T>G (p.Cys1369Gly)
|
rs995972011
|
|
NM_001018115.3(FANCD2):c.4106G>A (p.Cys1369Tyr)
|
|
|
NM_001018115.3(FANCD2):c.4112T>A (p.Val1371Asp)
|
rs2125095439
|
|
NM_001018115.3(FANCD2):c.4120A>G (p.Met1374Val)
|
|
|
NM_001018115.3(FANCD2):c.4126A>G (p.Thr1376Ala)
|
|
|
NM_001018115.3(FANCD2):c.4128_4131dup (p.Asn1378fs)
|
|
|
NM_001018115.3(FANCD2):c.4132A>C (p.Asn1378His)
|
|
|
NM_001018115.3(FANCD2):c.4137T>C (p.Asn1379=)
|
rs752376206
|
|
NM_001018115.3(FANCD2):c.4138T>C (p.Cys1380Arg)
|
|
|
NM_001018115.3(FANCD2):c.4171A>C (p.Asn1391His)
|
rs1694972063
|
|
NM_001018115.3(FANCD2):c.4174C>T (p.Arg1392Trp)
|
|
|
NM_001018115.3(FANCD2):c.4185+5G>T
|
rs2125095695
|
|
NM_001018115.3(FANCD2):c.4202C>T (p.Ser1401Phe)
|
|
|
NM_001018115.3(FANCD2):c.4210T>A (p.Ser1404Thr)
|
|
|
NM_001018115.3(FANCD2):c.4232A>C (p.Glu1411Ala)
|
rs753252480
|
|
NM_001018115.3(FANCD2):c.4234_4239del (p.Ser1412_Glu1413del)
|
rs766605179
|
|
NM_001018115.3(FANCD2):c.4263dup (p.Lys1422fs)
|
|
|
NM_001018115.3(FANCD2):c.4264A>C (p.Lys1422Gln)
|
rs1695131902
|
|
NM_001018115.3(FANCD2):c.4281+16C>T
|
rs1695133266
|
|
NM_001018115.3(FANCD2):c.4281+1del
|
|
|
NM_001018115.3(FANCD2):c.4281+517A>C
|
rs1695165243
|
|
NM_001018115.3(FANCD2):c.4281+543C>T
|
rs540249462
|
|
NM_001018115.3(FANCD2):c.4281+65G>A
|
|
|
NM_001018115.3(FANCD2):c.4281+823A>G
|
rs886057697
|
|
NM_001018115.3(FANCD2):c.4338T>G (p.Ser1446Arg)
|
rs2125105648
|
|
NM_001018115.3(FANCD2):c.44G>C (p.Ser15Thr)
|
|
|
NM_001018115.3(FANCD2):c.455C>A (p.Thr152Asn)
|
rs150444770
|
|
NM_001018115.3(FANCD2):c.461T>G (p.Phe154Cys)
|
|
|
NM_001018115.3(FANCD2):c.473C>G (p.Pro158Arg)
|
rs2124978557
|
|
NM_001018115.3(FANCD2):c.481T>C (p.Phe161Leu)
|
|
|
NM_001018115.3(FANCD2):c.486T>G (p.Phe162Leu)
|
rs2086730814
|
|
NM_001018115.3(FANCD2):c.503A>G (p.Asp168Gly)
|
|
|
NM_001018115.3(FANCD2):c.527T>C (p.Ile176Thr)
|
|
|
NM_001018115.3(FANCD2):c.531C>G (p.Val177=)
|
rs747006885
|
|
NM_001018115.3(FANCD2):c.550G>T (p.Asp184Tyr)
|
rs2086806903
|
|
NM_001018115.3(FANCD2):c.551A>C (p.Asp184Ala)
|
|
|
NM_001018115.3(FANCD2):c.571-3C>G
|
rs191386799
|
|
NM_001018115.3(FANCD2):c.571G>A (p.Asp191Asn)
|
rs1257501671
|
|
NM_001018115.3(FANCD2):c.604A>G (p.Ile202Val)
|
rs2124985132
|
|
NM_001018115.3(FANCD2):c.607G>C (p.Ala203Pro)
|
rs769402896
|
|
NM_001018115.3(FANCD2):c.62C>G (p.Ser21Cys)
|
|
|
NM_001018115.3(FANCD2):c.634A>G (p.Ile212Val)
|
rs2124985240
|
|
NM_001018115.3(FANCD2):c.667C>G (p.Gln223Glu)
|
rs1307143430
|
|
NM_001018115.3(FANCD2):c.673G>A (p.Ala225Thr)
|
|
|
NM_001018115.3(FANCD2):c.695+5A>G
|
|
|
NM_001018115.3(FANCD2):c.695+6_695+11del
|
rs2124985470
|
|
NM_001018115.3(FANCD2):c.696T>C (p.Ser232=)
|
|
|
NM_001018115.3(FANCD2):c.70A>G (p.Arg24Gly)
|
rs999832070
|
|
NM_001018115.3(FANCD2):c.733A>G (p.Ile245Val)
|
|
|
NM_001018115.3(FANCD2):c.745C>T (p.Leu249Phe)
|
|
|
NM_001018115.3(FANCD2):c.74A>G (p.Lys25Arg)
|
|
|
NM_001018115.3(FANCD2):c.758G>A (p.Arg253Gln)
|
|
|
NM_001018115.3(FANCD2):c.769A>G (p.Asn257Asp)
|
|
|
NM_001018115.3(FANCD2):c.77A>C (p.Gln26Pro)
|
|
|
NM_001018115.3(FANCD2):c.783+6A>G
|
|
|
NM_001018115.3(FANCD2):c.784-3T>G
|
rs2086891718
|
|
NM_001018115.3(FANCD2):c.784G>A (p.Val262Ile)
|
|
|
NM_001018115.3(FANCD2):c.787C>T (p.Arg263Cys)
|
|
|
NM_001018115.3(FANCD2):c.788G>A (p.Arg263His)
|
|
|
NM_001018115.3(FANCD2):c.796_798del (p.Val266del)
|
|
|
NM_001018115.3(FANCD2):c.799A>T (p.Met267Leu)
|
|
|
NM_001018115.3(FANCD2):c.803A>G (p.Asp268Gly)
|
|
|
NM_001018115.3(FANCD2):c.807G>C (p.Lys269Asn)
|
|
|
NM_001018115.3(FANCD2):c.810GTC[1] (p.Ser272del)
|
rs748327074
|
|
NM_001018115.3(FANCD2):c.853A>G (p.Ile285Val)
|
rs2124991389
|
|
NM_001018115.3(FANCD2):c.875T>G (p.Met292Arg)
|
|
|
NM_001018115.3(FANCD2):c.888+3A>G
|
|
|
NM_001018115.3(FANCD2):c.888G>A (p.Glu296=)
|
|
|
NM_001018115.3(FANCD2):c.905G>A (p.Arg302Gln)
|
rs755797932
|
|
NM_001018115.3(FANCD2):c.905G>C (p.Arg302Pro)
|
rs755797932
|
|
NM_001018115.3(FANCD2):c.919C>G (p.Leu307Val)
|
rs1486958347
|
|
NM_001018115.3(FANCD2):c.923A>G (p.Gln308Arg)
|
|
|
NM_001018115.3(FANCD2):c.929G>T (p.Cys310Phe)
|
rs1251711461
|
|
NM_001018115.3(FANCD2):c.944G>A (p.Arg315Gln)
|
|
|
NM_001018115.3(FANCD2):c.950A>G (p.Gln317Arg)
|
|
|
NM_001018115.3(FANCD2):c.952G>A (p.Ala318Thr)
|
|
|
NM_001018115.3(FANCD2):c.95C>T (p.Thr32Ile)
|
|
|
NM_001018115.3(FANCD2):c.962T>G (p.Val321Gly)
|
|
|
NM_001018115.3(FANCD2):c.973A>C (p.Ser325Arg)
|
rs2124992404
|
|
NM_001018115.3(FANCD2):c.978A>C (p.Lys326Asn)
|
rs200193941
|
|
NM_001018115.3(FANCD2):c.989+3A>G
|
|
|
NM_001022.3(RPS19):c.-151G>T
|
rs886054466
|
|
NM_001022.3(RPS19):c.-190C>G
|
rs1053550637
|
|
NM_001022.4(RPS19):c.-26C>T
|
rs2074012484
|
|
NM_001022.4(RPS19):c.1-9C>T
|
|
|
NM_001022.4(RPS19):c.106A>G (p.Thr36Ala)
|
|
|
NM_001022.4(RPS19):c.109G>T (p.Val37Phe)
|
|
|
NM_001022.4(RPS19):c.112A>C (p.Lys38Gln)
|
|
|
NM_001022.4(RPS19):c.124C>T (p.His42Tyr)
|
|
|
NM_001022.4(RPS19):c.145G>C (p.Asp49His)
|
|
|
NM_001022.4(RPS19):c.172+5G>C
|
rs886054471
|
|
NM_001022.4(RPS19):c.175_176delinsCT (p.Ser59Leu)
|
rs1600621092
|
|
NM_001022.4(RPS19):c.182C>T (p.Ala61Val)
|
|
|
NM_001022.4(RPS19):c.186_187del (p.His63fs)
|
|
|
NM_001022.4(RPS19):c.188A>C (p.His63Pro)
|
|
|
NM_001022.4(RPS19):c.198C>T (p.Leu66=)
|
rs1275070186
|
|
NM_001022.4(RPS19):c.199C>T (p.Arg67Trp)
|
|
|
NM_001022.4(RPS19):c.1A>G (p.Met1Val)
|
rs2123255913
|
|
NM_001022.4(RPS19):c.200G>A (p.Arg67Gln)
|
|
|
NM_001022.4(RPS19):c.214G>T (p.Val72Phe)
|
rs1600621248
|
|
NM_001022.4(RPS19):c.226A>G (p.Thr76Ala)
|
|
|
NM_001022.4(RPS19):c.245G>A (p.Arg82His)
|
rs782814286
|
|
NM_001022.4(RPS19):c.245G>T (p.Arg82Leu)
|
|
|
NM_001022.4(RPS19):c.25G>A (p.Val9Met)
|
|
|
NM_001022.4(RPS19):c.266C>G (p.Pro89Arg)
|
|
|
NM_001022.4(RPS19):c.281G>A (p.Arg94Gln)
|
|
|
NM_001022.4(RPS19):c.301C>T (p.Arg101Cys)
|
|
|
NM_001022.4(RPS19):c.305G>A (p.Arg102Gln)
|
|
|
NM_001022.4(RPS19):c.308T>A (p.Val103Asp)
|
rs1131691437
|
|
NM_001022.4(RPS19):c.311T>C (p.Leu104Pro)
|
|
|
NM_001022.4(RPS19):c.317C>T (p.Ala106Val)
|
rs2074119741
|
|
NM_001022.4(RPS19):c.320T>C (p.Leu107Pro)
|
|
|
NM_001022.4(RPS19):c.328C>G (p.Leu110Val)
|
|
|
NM_001022.4(RPS19):c.356+5G>A
|
|
|
NM_001022.4(RPS19):c.357-3C>A
|
|
|
NM_001022.4(RPS19):c.357-5C>G
|
rs782129469
|
|
NM_001022.4(RPS19):c.358G>A (p.Gly120Ser)
|
|
|
NM_001022.4(RPS19):c.365A>G (p.Lys122Arg)
|
|
|
NM_001022.4(RPS19):c.368T>A (p.Leu123Gln)
|
|
|
NM_001022.4(RPS19):c.373C>A (p.Pro125Thr)
|
|
|
NM_001022.4(RPS19):c.392T>G (p.Leu131Arg)
|
|
|
NM_001022.4(RPS19):c.409C>T (p.Gln137Ter)
|
|
|
NM_001022.4(RPS19):c.410A>G (p.Gln137Arg)
|
rs782608155
|
|
NM_001022.4(RPS19):c.411+16G>C
|
|
|
NM_001022.4(RPS19):c.411+3A>G
|
rs2123286000
|
|
NM_001022.4(RPS19):c.411+6G>T
|
|
|
NM_001022.4(RPS19):c.412-3C>T
|
|
|
NM_001022.4(RPS19):c.412-8_412-1dup
|
rs2123290691
|
|
NM_001022.4(RPS19):c.49G>A (p.Ala17Thr)
|
|
|
NM_001022.4(RPS19):c.64C>T (p.Leu22Phe)
|
|
|
NM_001022.4(RPS19):c.71+12del
|
rs886054470
|
|
NM_001022.4(RPS19):c.71+6T>A
|
rs2074021759
|
|
NM_001022.4(RPS19):c.72-15C>G
|
rs530537278
|
|
NM_001022.4(RPS19):c.72-9T>A
|
|
|
NM_001022.4(RPS19):c.80A>G (p.Lys27Arg)
|
|
|
NM_001029.5(RPS26):c.-130T>G
|
rs1895889933
|
|
NM_001029.5(RPS26):c.-149G>T
|
rs886049686
|
|
NM_001029.5(RPS26):c.119T>A (p.Val40Asp)
|
|
|
NM_001029.5(RPS26):c.157A>G (p.Ile53Val)
|
rs1295092646
|
|
NM_001029.5(RPS26):c.170G>A (p.Ser57Asn)
|
|
|
NM_001029.5(RPS26):c.181+6_181+7del
|
rs746906342
|
|
NM_001029.5(RPS26):c.182-16_182-4del
|
|
|
NM_001029.5(RPS26):c.266G>C (p.Arg89Pro)
|
rs764673368
|
|
NM_001029.5(RPS26):c.274C>T (p.Arg92Cys)
|
|
|
NM_001029.5(RPS26):c.3+4A>C
|
|
|
NM_001029.5(RPS26):c.3+5G>C
|
|
|
NM_001029.5(RPS26):c.312+3G>A
|
|
|
NM_001029.5(RPS26):c.312+5_312+21del
|
|
|
NM_001029.5(RPS26):c.317C>G (p.Ala106Gly)
|
|
|
NM_001029.5(RPS26):c.328C>T (p.Pro110Ser)
|
|
|
NM_001029.5(RPS26):c.332C>T (p.Pro111Leu)
|
|
|
NM_001029.5(RPS26):c.344T>C (p.Met115Thr)
|
|
|
NM_001029.5(RPS26):c.4-4G>T
|
rs2136753773
|
|
NM_001029.5(RPS26):c.4-8_4-7delinsCT
|
|
|
NM_001029.5(RPS26):c.61A>C (p.Ile21Leu)
|
rs1392801928
|
|
NM_001029.5(RPS26):c.64C>G (p.Arg22Gly)
|
rs762701251
|
|
NM_001029.5(RPS26):c.65G>A (p.Arg22His)
|
|
|
NM_001029.5(RPS26):c.67T>C (p.Cys23Arg)
|
|
|
NM_001029.5(RPS26):c.70A>G (p.Thr24Ala)
|
|
|
NM_001029.5(RPS26):c.77G>A (p.Cys26Tyr)
|
|
|
NM_001029.5(RPS26):c.95A>C (p.Lys32Thr)
|
|
|
NM_001029.5(RPS26):c.96G>A (p.Lys32=)
|
rs1472827120
|
|
NM_001029.5(RPS26):c.9G>C (p.Lys3Asn)
|
|
|
NM_001032.5(RPS29):c.63-6T>G
|
rs1594573747
|
|
NM_001040436.2(YARS2):c.-31A>G
|
rs557243101
|
|
NM_001040436.3(YARS2):c.*377G>A
|
rs1955646004
|
|
NM_001040436.3(YARS2):c.*62G>A
|
rs527443669
|
|
NM_001040436.3(YARS2):c.1104-16dup
|
rs761612441
|
|
NM_001040436.3(YARS2):c.1241G>T (p.Arg414Leu)
|
|
|
NM_001040436.3(YARS2):c.1427A>G (p.Gln476Arg)
|
rs1955656296
|
|
NM_001040436.3(YARS2):c.30C>T (p.Ser10=)
|
rs886049305
|
|
NM_001040436.3(YARS2):c.327C>G (p.Ile109Met)
|
rs886049304
|
|
NM_001040436.3(YARS2):c.514G>A (p.Asp172Asn)
|
|
|
NM_001040436.3(YARS2):c.7G>A (p.Ala3Thr)
|
rs772348768
|
|
NM_001040436.3(YARS2):c.930G>A (p.Pro310=)
|
rs147551647
|
|
NM_001063.4(TF):c.*81A>G
|
rs886058015
|
|
NM_001063.4(TF):c.113G>A (p.Cys38Tyr)
|
|
|
NM_001063.4(TF):c.142G>A (p.Val48Ile)
|
rs144636315
|
|
NM_001063.4(TF):c.1687+9A>C
|
rs886058014
|
|
NM_001063.4(TF):c.174T>A (p.Cys58Ter)
|
rs1559867036
|
|
NM_001063.4(TF):c.1805C>A (p.Pro602Gln)
|
rs41296598
|
|
NM_001063.4(TF):c.2063-11_2063-10del
|
rs2107937266
|
|
NM_001081.4(CUBN):c.*177C>G
|
rs886046860
|
|
NM_001081.4(CUBN):c.*267A>T
|
rs1203238498
|
|
NM_001081.4(CUBN):c.*304G>T
|
rs2131292535
|
|
NM_001081.4(CUBN):c.*329C>G
|
rs376727720
|
|
NM_001081.4(CUBN):c.*329C>T
|
rs376727720
|
|
NM_001081.4(CUBN):c.*453A>G
|
rs1838716540
|
|
NM_001081.4(CUBN):c.*460C>A
|
rs1588559715
|
|
NM_001081.4(CUBN):c.*514T>G
|
rs886046854
|
|
NM_001081.4(CUBN):c.*794A>G
|
rs886046852
|
|
NM_001081.4(CUBN):c.*883G>A
|
rs886046851
|
|
NM_001081.4(CUBN):c.1003G>C (p.Ala335Pro)
|
|
|
NM_001081.4(CUBN):c.10077G>C (p.Ser3359=)
|
rs147563157
|
|
NM_001081.4(CUBN):c.10097C>G (p.Ser3366Cys)
|
|
|
NM_001081.4(CUBN):c.10115T>C (p.Met3372Thr)
|
|
|
NM_001081.4(CUBN):c.10143C>G (p.Asn3381Lys)
|
rs1839164438
|
|
NM_001081.4(CUBN):c.10176T>G (p.Ile3392Met)
|
|
|
NM_001081.4(CUBN):c.10246G>A (p.Asp3416Asn)
|
|
|
NM_001081.4(CUBN):c.10250A>G (p.Asn3417Ser)
|
|
|
NM_001081.4(CUBN):c.10295C>T (p.Thr3432Ile)
|
rs7898873
|
|
NM_001081.4(CUBN):c.1036G>C (p.Val346Leu)
|
rs886046879
|
|
NM_001081.4(CUBN):c.10383C>A (p.Ser3461Arg)
|
|
|
NM_001081.4(CUBN):c.10397T>A (p.Leu3466Gln)
|
|
|
NM_001081.4(CUBN):c.10463G>A (p.Arg3488Gln)
|
|
|
NM_001081.4(CUBN):c.10466T>G (p.Phe3489Cys)
|
rs886046863
|
|
NM_001081.4(CUBN):c.1049C>T (p.Thr350Ile)
|
|
|
NM_001081.4(CUBN):c.10513A>G (p.Thr3505Ala)
|
|
|
NM_001081.4(CUBN):c.10526C>G (p.Ser3509Cys)
|
|
|
NM_001081.4(CUBN):c.10529-3C>T
|
rs1838885191
|
|
NM_001081.4(CUBN):c.10544T>C (p.Leu3515Pro)
|
|
|
NM_001081.4(CUBN):c.10547A>T (p.Tyr3516Phe)
|
|
|
NM_001081.4(CUBN):c.10591T>C (p.Tyr3531His)
|
rs1388282481
|
|
NM_001081.4(CUBN):c.10612G>A (p.Glu3538Lys)
|
rs756614749
|
|
NM_001081.4(CUBN):c.10727A>G (p.Asn3576Ser)
|
|
|
NM_001081.4(CUBN):c.10728C>G (p.Asn3576Lys)
|
rs368511477
|
|
NM_001081.4(CUBN):c.10729G>T (p.Ala3577Ser)
|
rs139051724
|
|
NM_001081.4(CUBN):c.10742C>T (p.Ser3581Phe)
|
rs2131299558
|
|
NM_001081.4(CUBN):c.10752A>T (p.Pro3584=)
|
rs886046862
|
|
NM_001081.4(CUBN):c.10777G>A (p.Ala3593Thr)
|
rs1838734881
|
|
NM_001081.4(CUBN):c.10798A>C (p.Asn3600His)
|
rs763168436
|
|
NM_001081.4(CUBN):c.10835G>A (p.Arg3612Gln)
|
|
|
NM_001081.4(CUBN):c.10846G>A (p.Ala3616Thr)
|
rs564429505
|
|
NM_001081.4(CUBN):c.1110A>C (p.Leu370=)
|
rs886046878
|
|
NM_001081.4(CUBN):c.1127G>A (p.Cys376Tyr)
|
rs2131302483
|
|
NM_001081.4(CUBN):c.1186A>G (p.Ser396Gly)
|
|
|
NM_001081.4(CUBN):c.1210T>G (p.Cys404Gly)
|
rs2131302341
|
|
NM_001081.4(CUBN):c.1220G>A (p.Gly407Glu)
|
|
|
NM_001081.4(CUBN):c.128G>A (p.Arg43Gln)
|
|
|
NM_001081.4(CUBN):c.1301A>G (p.Asn434Ser)
|
|
|
NM_001081.4(CUBN):c.1342G>A (p.Val448Ile)
|
rs2131301048
|
|
NM_001081.4(CUBN):c.1378C>T (p.Arg460Cys)
|
|
|
NM_001081.4(CUBN):c.1405G>C (p.Val469Leu)
|
rs780440368
|
|
NM_001081.4(CUBN):c.1427A>G (p.Glu476Gly)
|
|
|
NM_001081.4(CUBN):c.1474G>T (p.Val492Phe)
|
rs753563615
|
|
NM_001081.4(CUBN):c.1512C>G (p.Ile504Met)
|
|
|
NM_001081.4(CUBN):c.1523T>C (p.Met508Thr)
|
|
|
NM_001081.4(CUBN):c.1537C>T (p.Arg513Cys)
|
|
|
NM_001081.4(CUBN):c.1538G>A (p.Arg513His)
|
|
|
NM_001081.4(CUBN):c.1543A>T (p.Thr515Ser)
|
|
|
NM_001081.4(CUBN):c.1547T>C (p.Phe516Ser)
|
|
|
NM_001081.4(CUBN):c.1553T>C (p.Phe518Ser)
|
rs2131296213
|
|
NM_001081.4(CUBN):c.1559G>T (p.Arg520Leu)
|
|
|
NM_001081.4(CUBN):c.1586A>G (p.His529Arg)
|
|
|
NM_001081.4(CUBN):c.1616C>T (p.Ser539Phe)
|
|
|
NM_001081.4(CUBN):c.1634T>G (p.Leu545Arg)
|
|
|
NM_001081.4(CUBN):c.1688C>T (p.Ala563Val)
|
rs2131295988
|
|
NM_001081.4(CUBN):c.1739C>G (p.Thr580Arg)
|
|
|
NM_001081.4(CUBN):c.1752A>T (p.Glu584Asp)
|
|
|
NM_001081.4(CUBN):c.1795G>A (p.Gly599Ser)
|
|
|
NM_001081.4(CUBN):c.1805A>T (p.Lys602Met)
|
|
|
NM_001081.4(CUBN):c.181A>T (p.Ile61Phe)
|
|
|
NM_001081.4(CUBN):c.1837G>C (p.Gly613Arg)
|
rs2131869531
|
|
NM_001081.4(CUBN):c.1844A>G (p.Asp615Gly)
|
|
|
NM_001081.4(CUBN):c.1915C>A (p.His639Asn)
|
rs370816201
|
|
NM_001081.4(CUBN):c.1924G>A (p.Asp642Asn)
|
|
|
NM_001081.4(CUBN):c.1942C>T (p.Leu648Phe)
|
rs2131869310
|
|
NM_001081.4(CUBN):c.1952G>A (p.Arg651Gln)
|
|
|
NM_001081.4(CUBN):c.1997C>T (p.Thr666Ile)
|
|
|
NM_001081.4(CUBN):c.2015C>G (p.Pro672Arg)
|
rs776433038
|
|
NM_001081.4(CUBN):c.2015C>T (p.Pro672Leu)
|
|
|
NM_001081.4(CUBN):c.2032C>G (p.Pro678Ala)
|
rs1348130743
|
|
NM_001081.4(CUBN):c.2077C>G (p.Gln693Glu)
|
rs2131865388
|
|
NM_001081.4(CUBN):c.2087A>G (p.His696Arg)
|
|
|
NM_001081.4(CUBN):c.2096A>G (p.Tyr699Cys)
|
|
|
NM_001081.4(CUBN):c.2110+10C>G
|
rs752409034
|
|
NM_001081.4(CUBN):c.2110T>G (p.Ser704Ala)
|
rs2131865310
|
|
NM_001081.4(CUBN):c.2132A>G (p.Asn711Ser)
|
|
|
NM_001081.4(CUBN):c.2151T>C (p.Gly717=)
|
rs1836053318
|
|
NM_001081.4(CUBN):c.2258T>A (p.Val753Glu)
|
|
|
NM_001081.4(CUBN):c.2275A>G (p.Ser759Gly)
|
|
|
NM_001081.4(CUBN):c.2322A>C (p.Leu774Phe)
|
|
|
NM_001081.4(CUBN):c.2329A>G (p.Lys777Glu)
|
|
|
NM_001081.4(CUBN):c.2446+14_2446+15del
|
rs752528712
|
|
NM_001081.4(CUBN):c.2446G>A (p.Ala816Thr)
|
|
|
NM_001081.4(CUBN):c.2447-15T>A
|
rs886046877
|
|
NM_001081.4(CUBN):c.2461T>G (p.Leu821Val)
|
|
|
NM_001081.4(CUBN):c.2470G>A (p.Glu824Lys)
|
|
|
NM_001081.4(CUBN):c.2495T>G (p.Phe832Cys)
|
|
|
NM_001081.4(CUBN):c.2527A>T (p.Arg843Trp)
|
|
|
NM_001081.4(CUBN):c.2673C>T (p.Cys891=)
|
rs386833778
|
|
NM_001081.4(CUBN):c.2726C>T (p.Thr909Ile)
|
|
|
NM_001081.4(CUBN):c.2779G>A (p.Ala927Thr)
|
|
|
NM_001081.4(CUBN):c.2790G>C (p.Leu930Phe)
|
|
|
NM_001081.4(CUBN):c.2791G>A (p.Ala931Thr)
|
rs1042319182
|
|
NM_001081.4(CUBN):c.2810C>G (p.Thr937Arg)
|
rs200383906
|
|
NM_001081.4(CUBN):c.2839G>T (p.Gly947Cys)
|
rs2131844929
|
|
NM_001081.4(CUBN):c.2860C>G (p.His954Asp)
|
|
|
NM_001081.4(CUBN):c.2866A>G (p.Ile956Val)
|
|
|
NM_001081.4(CUBN):c.2870A>G (p.Asn957Ser)
|
|
|
NM_001081.4(CUBN):c.2980G>T (p.Asp994Tyr)
|
|
|
NM_001081.4(CUBN):c.3008+9_3008+12dup
|
rs772081536
|
|
NM_001081.4(CUBN):c.302G>A (p.Gly101Asp)
|
|
|
NM_001081.4(CUBN):c.3049G>A (p.Gly1017Ser)
|
rs1207798792
|
|
NM_001081.4(CUBN):c.3085G>A (p.Asp1029Asn)
|
|
|
NM_001081.4(CUBN):c.313A>G (p.Asn105Asp)
|
|
|
NM_001081.4(CUBN):c.3140-19G>A
|
|
|
NM_001081.4(CUBN):c.3143G>A (p.Cys1048Tyr)
|
|
|
NM_001081.4(CUBN):c.3210C>A (p.Asn1070Lys)
|
|
|
NM_001081.4(CUBN):c.3220T>A (p.Cys1074Ser)
|
|
|
NM_001081.4(CUBN):c.322A>G (p.Ser108Gly)
|
rs1564526263
|
|
NM_001081.4(CUBN):c.3230G>A (p.Arg1077Gln)
|
rs184585798
|
|
NM_001081.4(CUBN):c.3238G>A (p.Val1080Met)
|
rs2131822280
|
|
NM_001081.4(CUBN):c.3412A>C (p.Lys1138Gln)
|
rs1325425384
|
|
NM_001081.4(CUBN):c.3443T>C (p.Ile1148Thr)
|
|
|
NM_001081.4(CUBN):c.3464C>T (p.Ser1155Leu)
|
|
|
NM_001081.4(CUBN):c.349C>A (p.Leu117Met)
|
rs1588661287
|
|
NM_001081.4(CUBN):c.3551C>G (p.Pro1184Arg)
|
rs886046876
|
|
NM_001081.4(CUBN):c.3604G>A (p.Ala1202Thr)
|
rs141740096
|
|
NM_001081.4(CUBN):c.3604G>T (p.Ala1202Ser)
|
rs141740096
|
|
NM_001081.4(CUBN):c.3605C>T (p.Ala1202Val)
|
rs1835097031
|
|
NM_001081.4(CUBN):c.3649A>G (p.Asn1217Asp)
|
|
|
NM_001081.4(CUBN):c.3718T>G (p.Cys1240Gly)
|
|
|
NM_001081.4(CUBN):c.3823C>T (p.Arg1275Trp)
|
rs189294363
|
|
NM_001081.4(CUBN):c.3832T>C (p.Cys1278Arg)
|
|
|
NM_001081.4(CUBN):c.3844G>A (p.Val1282Ile)
|
|
|
NM_001081.4(CUBN):c.3894T>A (p.Asn1298Lys)
|
|
|
NM_001081.4(CUBN):c.3907A>C (p.Asn1303His)
|
|
|
NM_001081.4(CUBN):c.3928A>G (p.Ile1310Val)
|
rs1325181765
|
|
NM_001081.4(CUBN):c.3929T>C (p.Ile1310Thr)
|
rs1588604587
|
|
NM_001081.4(CUBN):c.3931C>G (p.Arg1311Gly)
|
|
|
NM_001081.4(CUBN):c.3931C>T (p.Arg1311Trp)
|
rs776683073
|
|
NM_001081.4(CUBN):c.397A>G (p.Lys133Glu)
|
|
|
NM_001081.4(CUBN):c.400A>G (p.Lys134Glu)
|
|
|
NM_001081.4(CUBN):c.4020C>G (p.Leu1340=)
|
rs769326338
|
|
NM_001081.4(CUBN):c.4033C>T (p.Arg1345Trp)
|
|
|
NM_001081.4(CUBN):c.4069C>G (p.Pro1357Ala)
|
rs780012075
|
|
NM_001081.4(CUBN):c.4094A>G (p.Lys1365Arg)
|
rs2131782772
|
|
NM_001081.4(CUBN):c.409A>C (p.Ser137Arg)
|
rs202053511
|
|
NM_001081.4(CUBN):c.4223C>G (p.Pro1408Arg)
|
|
|
NM_001081.4(CUBN):c.4264A>G (p.Arg1422Gly)
|
|
|
NM_001081.4(CUBN):c.4276G>A (p.Gly1426Arg)
|
|
|
NM_001081.4(CUBN):c.4280G>C (p.Ser1427Thr)
|
rs754229455
|
|
NM_001081.4(CUBN):c.4283G>C (p.Ser1428Thr)
|
|
|
NM_001081.4(CUBN):c.4350+5G>A
|
rs200324164
|
|
NM_001081.4(CUBN):c.4366G>A (p.Asp1456Asn)
|
|
|
NM_001081.4(CUBN):c.4426C>G (p.Gln1476Glu)
|
rs867893935
|
|
NM_001081.4(CUBN):c.4448A>C (p.Glu1483Ala)
|
|
|
NM_001081.4(CUBN):c.4460G>A (p.Arg1487Gln)
|
|
|
NM_001081.4(CUBN):c.4468A>T (p.Thr1490Ser)
|
rs2131700976
|
|
NM_001081.4(CUBN):c.4502C>A (p.Ala1501Glu)
|
|
|
NM_001081.4(CUBN):c.4529G>A (p.Cys1510Tyr)
|
|
|
NM_001081.4(CUBN):c.4562_4563delinsCA (p.Ile1521Thr)
|
|
|
NM_001081.4(CUBN):c.4586C>G (p.Pro1529Arg)
|
rs1251118545
|
|
NM_001081.4(CUBN):c.4633A>C (p.Asn1545His)
|
rs1391948790
|
|
NM_001081.4(CUBN):c.463T>G (p.Phe155Val)
|
rs2131324118
|
|
NM_001081.4(CUBN):c.4640G>A (p.Arg1547His)
|
|
|
NM_001081.4(CUBN):c.4676C>A (p.Pro1559Gln)
|
|
|
NM_001081.4(CUBN):c.4695+5G>A
|
|
|
NM_001081.4(CUBN):c.4720A>G (p.Met1574Val)
|
rs1482983523
|
|
NM_001081.4(CUBN):c.4727G>A (p.Arg1576His)
|
|
|
NM_001081.4(CUBN):c.475C>A (p.Pro159Thr)
|
|
|
NM_001081.4(CUBN):c.4771G>C (p.Val1591Leu)
|
|
|
NM_001081.4(CUBN):c.4799G>A (p.Arg1600Lys)
|
|
|
NM_001081.4(CUBN):c.4838G>T (p.Arg1613Leu)
|
|
|
NM_001081.4(CUBN):c.4844A>G (p.Gln1615Arg)
|
|
|
NM_001081.4(CUBN):c.4877C>T (p.Thr1626Ile)
|
|
|
NM_001081.4(CUBN):c.489+14T>C
|
rs886046882
|
|
NM_001081.4(CUBN):c.489+2_489+4dup
|
rs1588658746
|
|
NM_001081.4(CUBN):c.489+3G>A
|
rs555885592
|
|
NM_001081.4(CUBN):c.490-4A>T
|
|
|
NM_001081.4(CUBN):c.4934A>G (p.Gln1645Arg)
|
rs1243565121
|
|
NM_001081.4(CUBN):c.496C>T (p.Leu166Phe)
|
|
|
NM_001081.4(CUBN):c.4A>G (p.Met2Val)
|
|
|
NM_001081.4(CUBN):c.5005C>A (p.Leu1669Ile)
|
|
|
NM_001081.4(CUBN):c.5078G>A (p.Arg1693Gln)
|
|
|
NM_001081.4(CUBN):c.5149G>T (p.Val1717Phe)
|
|
|
NM_001081.4(CUBN):c.5170G>A (p.Ala1724Thr)
|
|
|
NM_001081.4(CUBN):c.5173G>A (p.Gly1725Arg)
|
|
|
NM_001081.4(CUBN):c.517G>A (p.Glu173Lys)
|
|
|
NM_001081.4(CUBN):c.5191G>C (p.Val1731Leu)
|
|
|
NM_001081.4(CUBN):c.5197G>A (p.Ala1733Thr)
|
|
|
NM_001081.4(CUBN):c.5215G>A (p.Gly1739Ser)
|
rs2131619882
|
|
NM_001081.4(CUBN):c.5222C>A (p.Thr1741Lys)
|
rs144943516
|
|
NM_001081.4(CUBN):c.5249A>G (p.Asn1750Ser)
|
|
|
NM_001081.4(CUBN):c.5285T>G (p.Val1762Gly)
|
rs149164899
|
|
NM_001081.4(CUBN):c.5302A>G (p.Ile1768Val)
|
rs779378713
|
|
NM_001081.4(CUBN):c.5302_5304del (p.Ile1768del)
|
rs775161946
|
|
NM_001081.4(CUBN):c.5305G>C (p.Val1769Leu)
|
rs74116778
|
|
NM_001081.4(CUBN):c.5317G>T (p.Gly1773Cys)
|
|
|
NM_001081.4(CUBN):c.5318G>A (p.Gly1773Asp)
|
|
|
NM_001081.4(CUBN):c.5338T>C (p.Phe1780Leu)
|
|
|
NM_001081.4(CUBN):c.5343-11C>T
|
rs777975604
|
|
NM_001081.4(CUBN):c.5343-6A>G
|
rs776579478
|
|
NM_001081.4(CUBN):c.5351A>G (p.Gln1784Arg)
|
|
|
NM_001081.4(CUBN):c.5411C>T (p.Thr1804Met)
|
|
|
NM_001081.4(CUBN):c.5434T>C (p.Cys1812Arg)
|
|
|
NM_001081.4(CUBN):c.5521A>T (p.Thr1841Ser)
|
|
|
NM_001081.4(CUBN):c.5569G>A (p.Val1857Met)
|
rs886046873
|
|
NM_001081.4(CUBN):c.5580T>A (p.His1860Gln)
|
rs980358703
|
|
NM_001081.4(CUBN):c.5597C>T (p.Pro1866Leu)
|
rs376970710
|
|
NM_001081.4(CUBN):c.5600T>C (p.Phe1867Ser)
|
|
|
NM_001081.4(CUBN):c.5626T>G (p.Ser1876Ala)
|
|
|
NM_001081.4(CUBN):c.5672A>G (p.His1891Arg)
|
|
|
NM_001081.4(CUBN):c.5677A>G (p.Arg1893Gly)
|
|
|
NM_001081.4(CUBN):c.5698G>A (p.Glu1900Lys)
|
|
|
NM_001081.4(CUBN):c.5738A>G (p.Tyr1913Cys)
|
|
|
NM_001081.4(CUBN):c.5752A>G (p.Ile1918Val)
|
rs1842556433
|
|
NM_001081.4(CUBN):c.5783G>T (p.Gly1928Val)
|
|
|
NM_001081.4(CUBN):c.5806_5807delinsAA (p.Ser1936Asn)
|
rs1554796668
|
|
NM_001081.4(CUBN):c.5840C>A (p.Ser1947Tyr)
|
rs147617753
|
|
NM_001081.4(CUBN):c.5875G>A (p.Glu1959Lys)
|
|
|
NM_001081.4(CUBN):c.5893G>A (p.Ala1965Thr)
|
|
|
NM_001081.4(CUBN):c.5943C>A (p.Phe1981Leu)
|
|
|
NM_001081.4(CUBN):c.5951C>T (p.Thr1984Met)
|
|
|
NM_001081.4(CUBN):c.5961A>G (p.Ala1987=)
|
rs886046872
|
|
NM_001081.4(CUBN):c.5965G>A (p.Val1989Met)
|
rs368951850
|
|
NM_001081.4(CUBN):c.6011T>G (p.Val2004Gly)
|
|
|
NM_001081.4(CUBN):c.6047C>T (p.Thr2016Ile)
|
|
|
NM_001081.4(CUBN):c.6049G>A (p.Val2017Met)
|
|
|
NM_001081.4(CUBN):c.6077T>C (p.Ile2026Thr)
|
rs2131594633
|
|
NM_001081.4(CUBN):c.6127G>A (p.Asp2043Asn)
|
|
|
NM_001081.4(CUBN):c.6145C>A (p.Gln2049Lys)
|
rs141319759
|
|
NM_001081.4(CUBN):c.6178G>C (p.Gly2060Arg)
|
|
|
NM_001081.4(CUBN):c.6188G>A (p.Arg2063Gln)
|
|
|
NM_001081.4(CUBN):c.6228C>G (p.Asp2076Glu)
|
|
|
NM_001081.4(CUBN):c.622C>T (p.Pro208Ser)
|
|
|
NM_001081.4(CUBN):c.6254A>G (p.Asn2085Ser)
|
rs569527072
|
|
NM_001081.4(CUBN):c.6256G>A (p.Ala2086Thr)
|
|
|
NM_001081.4(CUBN):c.6272-7T>A
|
rs1333033381
|
|
NM_001081.4(CUBN):c.6340T>C (p.Ser2114Pro)
|
|
|
NM_001081.4(CUBN):c.6364G>A (p.Val2122Ile)
|
|
|
NM_001081.4(CUBN):c.6439T>C (p.Cys2147Arg)
|
|
|
NM_001081.4(CUBN):c.6464T>C (p.Leu2155Pro)
|
rs2131581941
|
|
NM_001081.4(CUBN):c.6482T>A (p.Ile2161Asn)
|
|
|
NM_001081.4(CUBN):c.6533G>T (p.Ser2178Ile)
|
|
|
NM_001081.4(CUBN):c.6547A>G (p.Thr2183Ala)
|
|
|
NM_001081.4(CUBN):c.6641G>A (p.Ser2214Asn)
|
|
|
NM_001081.4(CUBN):c.6647-5C>G
|
|
|
NM_001081.4(CUBN):c.6707A>G (p.Asn2236Ser)
|
|
|
NM_001081.4(CUBN):c.6716A>G (p.His2239Arg)
|
|
|
NM_001081.4(CUBN):c.6749T>G (p.Ile2250Ser)
|
|
|
NM_001081.4(CUBN):c.6755C>T (p.Ala2252Val)
|
|
|
NM_001081.4(CUBN):c.6797G>A (p.Arg2266Gln)
|
rs1437222146
|
|
NM_001081.4(CUBN):c.6833A>G (p.Asn2278Ser)
|
rs942411004
|
|
NM_001081.4(CUBN):c.6848G>A (p.Arg2283Gln)
|
|
|
NM_001081.4(CUBN):c.6856G>A (p.Val2286Met)
|
|
|
NM_001081.4(CUBN):c.685A>G (p.Ile229Val)
|
|
|
NM_001081.4(CUBN):c.6871C>T (p.Pro2291Ser)
|
|
|
NM_001081.4(CUBN):c.6905C>T (p.Pro2302Leu)
|
|
|
NM_001081.4(CUBN):c.6950G>A (p.Arg2317Gln)
|
|
|
NM_001081.4(CUBN):c.7007G>A (p.Cys2336Tyr)
|
rs1413359792
|
|
NM_001081.4(CUBN):c.7037TTG[1] (p.Val2347del)
|
rs1279549461
|
|
NM_001081.4(CUBN):c.7049T>C (p.Ile2350Thr)
|
|
|
NM_001081.4(CUBN):c.7096C>A (p.His2366Asn)
|
rs1261134940
|
|
NM_001081.4(CUBN):c.7105G>A (p.Gly2369Arg)
|
|
|
NM_001081.4(CUBN):c.7126A>G (p.Thr2376Ala)
|
rs2131458000
|
|
NM_001081.4(CUBN):c.7251C>G (p.Asp2417Glu)
|
|
|
NM_001081.4(CUBN):c.7291G>T (p.Val2431Phe)
|
|
|
NM_001081.4(CUBN):c.7316C>G (p.Ser2439Ter)
|
rs1564421451
|
|
NM_001081.4(CUBN):c.731G>A (p.Ser244Asn)
|
|
|
NM_001081.4(CUBN):c.7352-7A>C
|
rs886046869
|
|
NM_001081.4(CUBN):c.7379T>C (p.Ile2460Thr)
|
|
|
NM_001081.4(CUBN):c.7397C>G (p.Pro2466Arg)
|
rs1184270888
|
|
NM_001081.4(CUBN):c.73G>A (p.Ala25Thr)
|
|
|
NM_001081.4(CUBN):c.7406C>T (p.Pro2469Leu)
|
rs202229367
|
|
NM_001081.4(CUBN):c.7435G>A (p.Glu2479Lys)
|
|
|
NM_001081.4(CUBN):c.7451C>A (p.Ala2484Asp)
|
|
|
NM_001081.4(CUBN):c.7454C>T (p.Pro2485Leu)
|
|
|
NM_001081.4(CUBN):c.750G>A (p.Gly250=)
|
|
|
NM_001081.4(CUBN):c.7522G>A (p.Glu2508Lys)
|
|
|
NM_001081.4(CUBN):c.7559C>T (p.Ser2520Leu)
|
rs2131438965
|
|
NM_001081.4(CUBN):c.7582A>G (p.Ser2528Gly)
|
rs1047710609
|
|
NM_001081.4(CUBN):c.7586G>A (p.Ser2529Asn)
|
rs886046868
|
|
NM_001081.4(CUBN):c.7602T>A (p.Asn2534Lys)
|
|
|
NM_001081.4(CUBN):c.7612T>C (p.Ser2538Pro)
|
|
|
NM_001081.4(CUBN):c.7637T>G (p.Ile2546Ser)
|
|
|
NM_001081.4(CUBN):c.7667G>A (p.Gly2556Asp)
|
|
|
NM_001081.4(CUBN):c.7794C>A (p.Asn2598Lys)
|
|
|
NM_001081.4(CUBN):c.7797C>G (p.Cys2599Trp)
|
rs138758085
|
|
NM_001081.4(CUBN):c.7798G>A (p.Glu2600Lys)
|
rs766806038
|
|
NM_001081.4(CUBN):c.7816C>A (p.Pro2606Thr)
|
rs886046867
|
|
NM_001081.4(CUBN):c.7861dup (p.Tyr2621fs)
|
rs1564415858
|
|
NM_001081.4(CUBN):c.7885C>A (p.Gln2629Lys)
|
|
|
NM_001081.4(CUBN):c.7916A>T (p.Asp2639Val)
|
rs2131430542
|
|
NM_001081.4(CUBN):c.797A>G (p.Glu266Gly)
|
rs2131312260
|
|
NM_001081.4(CUBN):c.8020C>T (p.Arg2674Cys)
|
|
|
NM_001081.4(CUBN):c.8049G>T (p.Lys2683Asn)
|
|
|
NM_001081.4(CUBN):c.8061A>G (p.Thr2687=)
|
|
|
NM_001081.4(CUBN):c.8062+3A>G
|
|
|
NM_001081.4(CUBN):c.8062+5G>A
|
rs886046866
|
|
NM_001081.4(CUBN):c.8129A>G (p.Asp2710Gly)
|
|
|
NM_001081.4(CUBN):c.8177C>T (p.Thr2726Ile)
|
|
|
NM_001081.4(CUBN):c.8219C>A (p.Thr2740Lys)
|
rs2131420801
|
|
NM_001081.4(CUBN):c.8231G>C (p.Trp2744Ser)
|
rs983265041
|
|
NM_001081.4(CUBN):c.8233G>A (p.Asp2745Asn)
|
rs886046865
|
|
NM_001081.4(CUBN):c.8273C>T (p.Pro2758Leu)
|
rs2131420669
|
|
NM_001081.4(CUBN):c.8278A>G (p.Ile2760Val)
|
rs749282139
|
|
NM_001081.4(CUBN):c.827C>T (p.Thr276Ile)
|
rs886046881
|
|
NM_001081.4(CUBN):c.8290T>C (p.Cys2764Arg)
|
|
|
NM_001081.4(CUBN):c.836A>G (p.Gln279Arg)
|
|
|
NM_001081.4(CUBN):c.8390C>T (p.Thr2797Met)
|
|
|
NM_001081.4(CUBN):c.8411-3C>T
|
|
|
NM_001081.4(CUBN):c.8417G>A (p.Gly2806Asp)
|
rs2131417467
|
|
NM_001081.4(CUBN):c.8441G>A (p.Gly2814Asp)
|
|
|
NM_001081.4(CUBN):c.8526C>G (p.His2842Gln)
|
|
|
NM_001081.4(CUBN):c.8578T>G (p.Cys2860Gly)
|
rs138719573
|
|
NM_001081.4(CUBN):c.8599G>C (p.Val2867Leu)
|
rs1588623316
|
|
NM_001081.4(CUBN):c.8600T>A (p.Val2867Glu)
|
rs2131400339
|
|
NM_001081.4(CUBN):c.8635C>G (p.Leu2879Val)
|
rs1801238
|
|
NM_001081.4(CUBN):c.8641A>G (p.Thr2881Ala)
|
|
|
NM_001081.4(CUBN):c.8648G>A (p.Cys2883Tyr)
|
|
|
NM_001081.4(CUBN):c.8711C>G (p.Ser2904Cys)
|
|
|
NM_001081.4(CUBN):c.8711C>T (p.Ser2904Phe)
|
rs1588623068
|
|
NM_001081.4(CUBN):c.8794A>T (p.Ile2932Phe)
|
rs2131396329
|
|
NM_001081.4(CUBN):c.883+5A>G
|
|
|
NM_001081.4(CUBN):c.8831T>G (p.Met2944Arg)
|
rs544783535
|
|
NM_001081.4(CUBN):c.8860C>G (p.Pro2954Ala)
|
|
|
NM_001081.4(CUBN):c.8923G>A (p.Gly2975Arg)
|
|
|
NM_001081.4(CUBN):c.8958A>C (p.Arg2986Ser)
|
|
|
NM_001081.4(CUBN):c.8967C>A (p.Ser2989Arg)
|
rs560485793
|
|
NM_001081.4(CUBN):c.8977A>G (p.Thr2993Ala)
|
rs1408193576
|
|
NM_001081.4(CUBN):c.9028G>A (p.Ala3010Thr)
|
rs756775921
|
|
NM_001081.4(CUBN):c.9028G>T (p.Ala3010Ser)
|
rs756775921
|
|
NM_001081.4(CUBN):c.9078C>A (p.Phe3026Leu)
|
rs140524729
|
|
NM_001081.4(CUBN):c.9166G>T (p.Ala3056Ser)
|
rs569915247
|
|
NM_001081.4(CUBN):c.9185T>C (p.Met3062Thr)
|
|
|
NM_001081.4(CUBN):c.923A>C (p.Glu308Ala)
|
rs886046880
|
|
NM_001081.4(CUBN):c.9266C>T (p.Thr3089Ile)
|
|
|
NM_001081.4(CUBN):c.9350G>A (p.Arg3117His)
|
|
|
NM_001081.4(CUBN):c.9397A>C (p.Lys3133Gln)
|
rs1432636083
|
|
NM_001081.4(CUBN):c.9435G>A (p.Met3145Ile)
|
|
|
NM_001081.4(CUBN):c.94A>G (p.Arg32Gly)
|
|
|
NM_001081.4(CUBN):c.9538G>A (p.Asp3180Asn)
|
|
|
NM_001081.4(CUBN):c.9605A>C (p.Asn3202Thr)
|
|
|
NM_001081.4(CUBN):c.9613G>A (p.Ala3205Thr)
|
|
|
NM_001081.4(CUBN):c.961C>T (p.Pro321Ser)
|
|
|
NM_001081.4(CUBN):c.9622G>A (p.Ala3208Thr)
|
|
|
NM_001081.4(CUBN):c.9667T>C (p.Tyr3223His)
|
|
|
NM_001081.4(CUBN):c.9721G>A (p.Val3241Ile)
|
|
|
NM_001081.4(CUBN):c.9727G>A (p.Ala3243Thr)
|
|
|
NM_001081.4(CUBN):c.9751T>G (p.Phe3251Val)
|
|
|
NM_001081.4(CUBN):c.9830C>T (p.Pro3277Leu)
|
|
|
NM_001081.4(CUBN):c.9990A>C (p.Gln3330His)
|
rs1839305562
|
|
NM_001081.4(CUBN):c.9998C>T (p.Thr3333Met)
|
|
|
NM_001083116.3(PRF1):c.1334G>A (p.Gly445Asp)
|
rs754711256
|
|
NM_001083116.3(PRF1):c.442G>A (p.Ala148Thr)
|
rs1208723557
|
|
NM_001083116.3(PRF1):c.568C>T (p.His190Tyr)
|
|
|
NM_001113378.2(FANCI):c.*614T>G
|
rs886051521
|
|
NM_001113378.2(FANCI):c.*662C>G
|
rs560246181
|
|
NM_001113378.2(FANCI):c.1003G>A (p.Val335Ile)
|
rs1222471181
|
|
NM_001113378.2(FANCI):c.100C>G (p.Gln34Glu)
|
rs1432524532
|
|
NM_001113378.2(FANCI):c.1013T>C (p.Phe338Ser)
|
|
|
NM_001113378.2(FANCI):c.1028TCC[1] (p.Leu344del)
|
rs770583031
|
|
NM_001113378.2(FANCI):c.103A>G (p.Asn35Asp)
|
|
|
NM_001113378.2(FANCI):c.1051C>G (p.Gln351Glu)
|
|
|
NM_001113378.2(FANCI):c.1053G>T (p.Gln351His)
|
|
|
NM_001113378.2(FANCI):c.1064C>G (p.Pro355Arg)
|
|
|
NM_001113378.2(FANCI):c.106C>A (p.Gln36Lys)
|
|
|
NM_001113378.2(FANCI):c.106C>G (p.Gln36Glu)
|
|
|
NM_001113378.2(FANCI):c.1070G>T (p.Arg357Ile)
|
rs2151453139
|
|
NM_001113378.2(FANCI):c.1075T>A (p.Tyr359Asn)
|
rs1429851841
|
|
NM_001113378.2(FANCI):c.1082C>T (p.Ser361Leu)
|
rs2151453253
|
|
NM_001113378.2(FANCI):c.1084A>G (p.Thr362Ala)
|
rs2053319905
|
|
NM_001113378.2(FANCI):c.1118A>G (p.His373Arg)
|
|
|
NM_001113378.2(FANCI):c.1123T>C (p.Trp375Arg)
|
|
|
NM_001113378.2(FANCI):c.1132G>T (p.Val378Phe)
|
rs1216132878
|
|
NM_001113378.2(FANCI):c.1141G>A (p.Gly381Ser)
|
|
|
NM_001113378.2(FANCI):c.1147G>A (p.Val383Ile)
|
|
|
NM_001113378.2(FANCI):c.1162A>G (p.Ile388Val)
|
|
|
NM_001113378.2(FANCI):c.1163T>C (p.Ile388Thr)
|
rs1174812931
|
|
NM_001113378.2(FANCI):c.1186A>G (p.Lys396Glu)
|
rs2053427139
|
|
NM_001113378.2(FANCI):c.1198G>C (p.Asp400His)
|
|
|
NM_001113378.2(FANCI):c.1205A>G (p.Lys402Arg)
|
|
|
NM_001113378.2(FANCI):c.1217C>G (p.Thr406Ser)
|
|
|
NM_001113378.2(FANCI):c.1221C>G (p.Ser407Arg)
|
rs2151486786
|
|
NM_001113378.2(FANCI):c.1222C>A (p.Pro408Thr)
|
rs1281730489
|
|
NM_001113378.2(FANCI):c.1222C>T (p.Pro408Ser)
|
|
|
NM_001113378.2(FANCI):c.1240C>T (p.Pro414Ser)
|
|
|
NM_001113378.2(FANCI):c.1273A>G (p.Ile425Val)
|
rs775228768
|
|
NM_001113378.2(FANCI):c.1294A>G (p.Ile432Val)
|
rs1387369541
|
|
NM_001113378.2(FANCI):c.12G>C (p.Lys4Asn)
|
rs1222824065
|
|
NM_001113378.2(FANCI):c.1314A>T (p.Gln438His)
|
|
|
NM_001113378.2(FANCI):c.1321T>A (p.Leu441Met)
|
|
|
NM_001113378.2(FANCI):c.1330G>A (p.Val444Ile)
|
rs1224560872
|
|
NM_001113378.2(FANCI):c.1333C>T (p.Leu445Phe)
|
rs2053498951
|
|
NM_001113378.2(FANCI):c.1345G>A (p.Val449Ile)
|
|
|
NM_001113378.2(FANCI):c.1349C>A (p.Thr450Asn)
|
rs1294189131
|
|
NM_001113378.2(FANCI):c.1349C>G (p.Thr450Ser)
|
|
|
NM_001113378.2(FANCI):c.1352G>C (p.Arg451Thr)
|
|
|
NM_001113378.2(FANCI):c.1354G>A (p.Ala452Thr)
|
|
|
NM_001113378.2(FANCI):c.1361C>G (p.Ser454Cys)
|
|
|
NM_001113378.2(FANCI):c.1363C>A (p.Pro455Thr)
|
rs2151511659
|
|
NM_001113378.2(FANCI):c.1366A>C (p.Ile456Leu)
|
rs757536456
|
|
NM_001113378.2(FANCI):c.1373A>G (p.His458Arg)
|
rs2053499876
|
|
NM_001113378.2(FANCI):c.1374T>A (p.His458Gln)
|
rs1183239990
|
|
NM_001113378.2(FANCI):c.1382-5T>C
|
rs2151549574
|
|
NM_001113378.2(FANCI):c.1417G>A (p.Val473Ile)
|
rs2053602523
|
|
NM_001113378.2(FANCI):c.1436C>A (p.Ser479Tyr)
|
rs2053602935
|
|
NM_001113378.2(FANCI):c.1438A>G (p.Lys480Glu)
|
|
|
NM_001113378.2(FANCI):c.1444A>G (p.Thr482Ala)
|
rs1249221854
|
|
NM_001113378.2(FANCI):c.1465T>C (p.Ser489Pro)
|
rs2053603506
|
|
NM_001113378.2(FANCI):c.1472T>C (p.Leu491Pro)
|
rs2053603695
|
|
NM_001113378.2(FANCI):c.1481A>G (p.Gln494Arg)
|
rs1214081735
|
|
NM_001113378.2(FANCI):c.1489C>A (p.Gln497Lys)
|
rs1049036307
|
|
NM_001113378.2(FANCI):c.1491A>C (p.Gln497His)
|
rs145349375
|
|
NM_001113378.2(FANCI):c.1494G>T (p.Arg498Ser)
|
rs767830108
|
|
NM_001113378.2(FANCI):c.1512+5G>C
|
rs2053605169
|
|
NM_001113378.2(FANCI):c.1512G>A (p.Gln504=)
|
rs377762481
|
|
NM_001113378.2(FANCI):c.1514C>A (p.Pro505His)
|
rs773105092
|
|
NM_001113378.2(FANCI):c.1517T>G (p.Leu506Arg)
|
rs2151558457
|
|
NM_001113378.2(FANCI):c.1525G>A (p.Val509Ile)
|
rs1011876937
|
|
NM_001113378.2(FANCI):c.1531A>C (p.Met511Leu)
|
rs1596285157
|
|
NM_001113378.2(FANCI):c.153C>G (p.Phe51Leu)
|
|
|
NM_001113378.2(FANCI):c.1541G>A (p.Arg514Lys)
|
|
|
NM_001113378.2(FANCI):c.1544A>G (p.Asp515Gly)
|
rs2053624733
|
|
NM_001113378.2(FANCI):c.1550T>G (p.Leu517Trp)
|
|
|
NM_001113378.2(FANCI):c.1556T>C (p.Leu519Pro)
|
rs998713167
|
|
NM_001113378.2(FANCI):c.1564C>A (p.Arg522=)
|
rs371568506
|
|
NM_001113378.2(FANCI):c.158-5A>G
|
|
|
NM_001113378.2(FANCI):c.1583+142C>T
|
rs2053631453
|
|
NM_001113378.2(FANCI):c.1583+3A>G
|
rs2151559047
|
|
NM_001113378.2(FANCI):c.1583A>C (p.Asn528Thr)
|
rs2151559017
|
|
NM_001113378.2(FANCI):c.1626G>C (p.Leu542=)
|
|
|
NM_001113378.2(FANCI):c.1637A>G (p.Asn546Ser)
|
|
|
NM_001113378.2(FANCI):c.1639delinsGTTC (p.Phe547delinsValLeu)
|
rs2053681482
|
|
NM_001113378.2(FANCI):c.163C>T (p.Pro55Ser)
|
|
|
NM_001113378.2(FANCI):c.1643A>C (p.Lys548Thr)
|
rs2053681603
|
|
NM_001113378.2(FANCI):c.1649T>C (p.Leu550Ser)
|
rs2151580534
|
|
NM_001113378.2(FANCI):c.1654A>C (p.Ser552Arg)
|
rs1060501899
|
|
NM_001113378.2(FANCI):c.1655G>A (p.Ser552Asn)
|
rs1470686039
|
|
NM_001113378.2(FANCI):c.1656C>A (p.Ser552Arg)
|
|
|
NM_001113378.2(FANCI):c.1656C>G (p.Ser552Arg)
|
rs1060501901
|
|
NM_001113378.2(FANCI):c.1664C>A (p.Ser555Tyr)
|
|
|
NM_001113378.2(FANCI):c.1669C>A (p.Gln557Lys)
|
|
|
NM_001113378.2(FANCI):c.1675A>C (p.Ser559Arg)
|
|
|
NM_001113378.2(FANCI):c.1675A>G (p.Ser559Gly)
|
|
|
NM_001113378.2(FANCI):c.1676G>T (p.Ser559Ile)
|
rs1555446426
|
|
NM_001113378.2(FANCI):c.1698+4A>G
|
rs1233338671
|
|
NM_001113378.2(FANCI):c.1703A>C (p.His568Pro)
|
rs555480773
|
|
NM_001113378.2(FANCI):c.1703A>G (p.His568Arg)
|
rs555480773
|
|
NM_001113378.2(FANCI):c.1708G>A (p.Asp570Asn)
|
|
|
NM_001113378.2(FANCI):c.1708G>C (p.Asp570His)
|
rs2053765523
|
|
NM_001113378.2(FANCI):c.1718G>A (p.Ser573Asn)
|
rs2053765806
|
|
NM_001113378.2(FANCI):c.1754T>G (p.Leu585Arg)
|
|
|
NM_001113378.2(FANCI):c.1761C>G (p.Ile587Met)
|
|
|
NM_001113378.2(FANCI):c.176A>T (p.Glu59Val)
|
|
|
NM_001113378.2(FANCI):c.1795G>A (p.Ala599Thr)
|
|
|
NM_001113378.2(FANCI):c.1795G>T (p.Ala599Ser)
|
|
|
NM_001113378.2(FANCI):c.1822-3T>C
|
rs978852872
|
|
NM_001113378.2(FANCI):c.1828T>A (p.Tyr610Asn)
|
|
|
NM_001113378.2(FANCI):c.182G>A (p.Gly61Glu)
|
rs780853984
|
|
NM_001113378.2(FANCI):c.1837C>T (p.Leu613Phe)
|
rs2151689487
|
|
NM_001113378.2(FANCI):c.1841G>A (p.Arg614Gln)
|
|
|
NM_001113378.2(FANCI):c.1849T>C (p.Ser617Pro)
|
rs780031757
|
|
NM_001113378.2(FANCI):c.1854G>T (p.Gln618His)
|
|
|
NM_001113378.2(FANCI):c.1863T>A (p.Asn621Lys)
|
|
|
NM_001113378.2(FANCI):c.1867G>A (p.Val623Ile)
|
rs1174201813
|
|
NM_001113378.2(FANCI):c.1870A>G (p.Met624Val)
|
rs772744597
|
|
NM_001113378.2(FANCI):c.1871T>C (p.Met624Thr)
|
rs758191165
|
|
NM_001113378.2(FANCI):c.1885T>C (p.Ser629Pro)
|
rs753059359
|
|
NM_001113378.2(FANCI):c.1888C>G (p.Gln630Glu)
|
|
|
NM_001113378.2(FANCI):c.1900T>C (p.Phe634Leu)
|
|
|
NM_001113378.2(FANCI):c.1906G>C (p.Glu636Gln)
|
rs751777082
|
|
NM_001113378.2(FANCI):c.1908_1909delinsAG (p.Pro637Ala)
|
|
|
NM_001113378.2(FANCI):c.1909C>T (p.Pro637Ser)
|
|
|
NM_001113378.2(FANCI):c.191_199del (p.Arg64_Arg66del)
|
rs2151252928
|
|
NM_001113378.2(FANCI):c.1925T>C (p.Leu642Pro)
|
rs2151709613
|
|
NM_001113378.2(FANCI):c.1931C>T (p.Pro644Leu)
|
|
|
NM_001113378.2(FANCI):c.1939T>A (p.Leu647Ile)
|
|
|
NM_001113378.2(FANCI):c.1951A>G (p.Ile651Val)
|
rs746651145
|
|
NM_001113378.2(FANCI):c.1955T>G (p.Leu652Arg)
|
rs2151709881
|
|
NM_001113378.2(FANCI):c.1962A>C (p.Gln654His)
|
|
|
NM_001113378.2(FANCI):c.1962A>G (p.Gln654=)
|
rs2151709946
|
|
NM_001113378.2(FANCI):c.1972A>C (p.Ile658Leu)
|
rs745308624
|
|
NM_001113378.2(FANCI):c.1987C>T (p.Pro663Ser)
|
|
|
NM_001113378.2(FANCI):c.1992+3G>C
|
|
|
NM_001113378.2(FANCI):c.199A>G (p.Lys67Glu)
|
rs748834576
|
|
NM_001113378.2(FANCI):c.2018A>G (p.His673Arg)
|
rs2151724076
|
|
NM_001113378.2(FANCI):c.2021G>T (p.Cys674Phe)
|
rs886051511
|
|
NM_001113378.2(FANCI):c.202A>G (p.Ile68Val)
|
|
|
NM_001113378.2(FANCI):c.2048T>C (p.Ile683Thr)
|
|
|
NM_001113378.2(FANCI):c.204A>G (p.Ile68Met)
|
|
|
NM_001113378.2(FANCI):c.2054T>C (p.Leu685Ser)
|
rs2054115728
|
|
NM_001113378.2(FANCI):c.205T>C (p.Tyr69His)
|
|
|
NM_001113378.2(FANCI):c.2063G>T (p.Gly688Val)
|
rs778157971
|
|
NM_001113378.2(FANCI):c.2066AGGAGGAAGAGG[1] (p.Glu693_Glu696del)
|
rs878854176
|
|
NM_001113378.2(FANCI):c.2074G>A (p.Glu692Lys)
|
|
|
NM_001113378.2(FANCI):c.2078A>G (p.Glu693Gly)
|
|
|
NM_001113378.2(FANCI):c.2083G>A (p.Glu695Lys)
|
|
|
NM_001113378.2(FANCI):c.2084A>C (p.Glu695Ala)
|
|
|
NM_001113378.2(FANCI):c.208A>G (p.Thr70Ala)
|
|
|
NM_001113378.2(FANCI):c.2095T>A (p.Tyr699Asn)
|
rs769972292
|
|
NM_001113378.2(FANCI):c.2096A>G (p.Tyr699Cys)
|
rs774148630
|
|
NM_001113378.2(FANCI):c.2111A>T (p.Asp704Val)
|
|
|
NM_001113378.2(FANCI):c.211TGT[1] (p.Cys72del)
|
|
|
NM_001113378.2(FANCI):c.2133T>C (p.Asn711=)
|
rs2054118261
|
|
NM_001113378.2(FANCI):c.2170-7C>G
|
rs759281018
|
|
NM_001113378.2(FANCI):c.2188T>C (p.Ser730Pro)
|
rs1596304843
|
|
NM_001113378.2(FANCI):c.2197A>G (p.Thr733Ala)
|
rs2054122961
|
|
NM_001113378.2(FANCI):c.2198C>G (p.Thr733Ser)
|
|
|
NM_001113378.2(FANCI):c.221A>T (p.Gln74Leu)
|
rs2052680747
|
|
NM_001113378.2(FANCI):c.2222T>C (p.Ile741Thr)
|
|
|
NM_001113378.2(FANCI):c.2231T>C (p.Phe744Ser)
|
rs1196776537
|
|
NM_001113378.2(FANCI):c.2233C>T (p.Leu745Phe)
|
|
|
NM_001113378.2(FANCI):c.2236G>A (p.Val746Met)
|
|
|
NM_001113378.2(FANCI):c.2255T>G (p.Val752Gly)
|
|
|
NM_001113378.2(FANCI):c.2266T>G (p.Tyr756Asp)
|
rs752028405
|
|
NM_001113378.2(FANCI):c.226G>A (p.Val76Met)
|
rs2151253448
|
|
NM_001113378.2(FANCI):c.2270A>G (p.Asn757Ser)
|
rs111883566
|
|
NM_001113378.2(FANCI):c.2273T>G (p.Phe758Cys)
|
rs750735931
|
|
NM_001113378.2(FANCI):c.2278A>G (p.Ile760Val)
|
rs780410177
|
|
NM_001113378.2(FANCI):c.2280A>G (p.Ile760Met)
|
|
|
NM_001113378.2(FANCI):c.2288T>A (p.Phe763Tyr)
|
|
|
NM_001113378.2(FANCI):c.2290A>C (p.Ser764Arg)
|
|
|
NM_001113378.2(FANCI):c.2291+5G>A
|
rs1315760080
|
|
NM_001113378.2(FANCI):c.2292-3C>T
|
|
|
NM_001113378.2(FANCI):c.2299A>G (p.Arg767Gly)
|
|
|
NM_001113378.2(FANCI):c.22C>G (p.Leu8Val)
|
rs772954096
|
|
NM_001113378.2(FANCI):c.2300G>T (p.Arg767Met)
|
rs1555447886
|
|
NM_001113378.2(FANCI):c.2302T>G (p.Phe768Val)
|
|
|
NM_001113378.2(FANCI):c.2303T>A (p.Phe768Tyr)
|
|
|
NM_001113378.2(FANCI):c.2306A>C (p.Glu769Ala)
|
|
|
NM_001113378.2(FANCI):c.2307G>C (p.Glu769Asp)
|
|
|
NM_001113378.2(FANCI):c.2318G>A (p.Ser773Asn)
|
rs1192891263
|
|
NM_001113378.2(FANCI):c.2327T>G (p.Met776Arg)
|
|
|
NM_001113378.2(FANCI):c.2330G>A (p.Cys777Tyr)
|
|
|
NM_001113378.2(FANCI):c.2342T>C (p.Leu781Pro)
|
|
|
NM_001113378.2(FANCI):c.2348A>G (p.Asp783Gly)
|
rs1363536852
|
|
NM_001113378.2(FANCI):c.2366C>T (p.Ala789Val)
|
rs925359228
|
|
NM_001113378.2(FANCI):c.236G>A (p.Gly79Glu)
|
rs1415605220
|
|
NM_001113378.2(FANCI):c.2394C>A (p.Asn798Lys)
|
|
|
NM_001113378.2(FANCI):c.2398A>G (p.Thr800Ala)
|
rs1163712614
|
|
NM_001113378.2(FANCI):c.2428G>T (p.Val810Leu)
|
rs779973664
|
|
NM_001113378.2(FANCI):c.2440C>G (p.Leu814Val)
|
rs2151741592
|
|
NM_001113378.2(FANCI):c.2455A>G (p.Arg819Gly)
|
rs370996106
|
|
NM_001113378.2(FANCI):c.2458G>A (p.Asp820Asn)
|
rs2151754385
|
|
NM_001113378.2(FANCI):c.2458G>T (p.Asp820Tyr)
|
rs2151754385
|
|
NM_001113378.2(FANCI):c.2459A>G (p.Asp820Gly)
|
|
|
NM_001113378.2(FANCI):c.2473C>T (p.His825Tyr)
|
|
|
NM_001113378.2(FANCI):c.247A>G (p.Lys83Glu)
|
rs2151253685
|
|
NM_001113378.2(FANCI):c.2484C>G (p.Ser828Arg)
|
|
|
NM_001113378.2(FANCI):c.2497A>G (p.Arg833Gly)
|
|
|
NM_001113378.2(FANCI):c.2511G>C (p.Glu837Asp)
|
rs2151754914
|
|
NM_001113378.2(FANCI):c.2518C>T (p.Arg840Cys)
|
|
|
NM_001113378.2(FANCI):c.2519G>T (p.Arg840Leu)
|
rs777483611
|
|
NM_001113378.2(FANCI):c.2533G>A (p.Val845Ile)
|
rs1596307741
|
|
NM_001113378.2(FANCI):c.2564A>G (p.Glu855Gly)
|
|
|
NM_001113378.2(FANCI):c.2566A>C (p.Thr856Pro)
|
rs541976745
|
|
NM_001113378.2(FANCI):c.257C>G (p.Ala86Gly)
|
|
|
NM_001113378.2(FANCI):c.2588A>G (p.Asp863Gly)
|
rs2054201315
|
|
NM_001113378.2(FANCI):c.2591G>T (p.Gly864Val)
|
|
|
NM_001113378.2(FANCI):c.2609T>A (p.Ile870Asn)
|
|
|
NM_001113378.2(FANCI):c.2611T>C (p.Phe871Leu)
|
|
|
NM_001113378.2(FANCI):c.2652A>C (p.Arg884Ser)
|
rs749604758
|
|
NM_001113378.2(FANCI):c.2660C>T (p.Ser887Leu)
|
|
|
NM_001113378.2(FANCI):c.2665C>T (p.Pro889Ser)
|
|
|
NM_001113378.2(FANCI):c.2671T>G (p.Ser891Ala)
|
rs2054461834
|
|
NM_001113378.2(FANCI):c.2674G>T (p.Val892Leu)
|
rs760751687
|
|
NM_001113378.2(FANCI):c.2677G>A (p.Glu893Lys)
|
|
|
NM_001113378.2(FANCI):c.2678A>C (p.Glu893Ala)
|
|
|
NM_001113378.2(FANCI):c.2683T>G (p.Ser895Ala)
|
rs1567170319
|
|
NM_001113378.2(FANCI):c.2693A>C (p.Lys898Thr)
|
rs530089482
|
|
NM_001113378.2(FANCI):c.2697G>T (p.Glu899Asp)
|
|
|
NM_001113378.2(FANCI):c.2708G>T (p.Ser903Ile)
|
rs1421890045
|
|
NM_001113378.2(FANCI):c.2711T>A (p.Ile904Asn)
|
|
|
NM_001113378.2(FANCI):c.2728G>C (p.Glu910Gln)
|
rs1261021714
|
|
NM_001113378.2(FANCI):c.2738A>C (p.Gln913Pro)
|
|
|
NM_001113378.2(FANCI):c.2745_2747del (p.Phe916del)
|
|
|
NM_001113378.2(FANCI):c.2746T>C (p.Phe916Leu)
|
|
|
NM_001113378.2(FANCI):c.2747T>G (p.Phe916Cys)
|
|
|
NM_001113378.2(FANCI):c.2750G>A (p.Ser917Asn)
|
rs2151839260
|
|
NM_001113378.2(FANCI):c.2752G>A (p.Ala918Thr)
|
|
|
NM_001113378.2(FANCI):c.2766C>G (p.Phe922Leu)
|
rs2054464932
|
|
NM_001113378.2(FANCI):c.2776A>C (p.Lys926Gln)
|
rs1596316742
|
|
NM_001113378.2(FANCI):c.2777A>C (p.Lys926Thr)
|
rs1386770100
|
|
NM_001113378.2(FANCI):c.2782C>G (p.Gln928Glu)
|
|
|
NM_001113378.2(FANCI):c.2789T>G (p.Phe930Cys)
|
|
|
NM_001113378.2(FANCI):c.2790T>A (p.Phe930Leu)
|
|
|
NM_001113378.2(FANCI):c.2797G>A (p.Ala933Thr)
|
|
|
NM_001113378.2(FANCI):c.2803+6C>T
|
|
|
NM_001113378.2(FANCI):c.280A>G (p.Met94Val)
|
|
|
NM_001113378.2(FANCI):c.2810C>G (p.Thr937Arg)
|
rs2151844601
|
|
NM_001113378.2(FANCI):c.2822_2824del (p.Gly941del)
|
|
|
NM_001113378.2(FANCI):c.2840C>T (p.Ala947Val)
|
|
|
NM_001113378.2(FANCI):c.2842G>C (p.Asp948His)
|
|
|
NM_001113378.2(FANCI):c.2843A>G (p.Asp948Gly)
|
rs2054481871
|
|
NM_001113378.2(FANCI):c.2849G>C (p.Ser950Thr)
|
rs760327010
|
|
NM_001113378.2(FANCI):c.2849G>T (p.Ser950Ile)
|
rs760327010
|
|
NM_001113378.2(FANCI):c.2854A>G (p.Thr952Ala)
|
|
|
NM_001113378.2(FANCI):c.2855_2869delinsTTG (p.Thr952_Phe957delinsIleVal)
|
rs1555448946
|
|
NM_001113378.2(FANCI):c.2866G>A (p.Ala956Thr)
|
|
|
NM_001113378.2(FANCI):c.2872C>G (p.Gln958Glu)
|
|
|
NM_001113378.2(FANCI):c.2874G>C (p.Gln958His)
|
|
|
NM_001113378.2(FANCI):c.289-18T>C
|
|
|
NM_001113378.2(FANCI):c.2891G>A (p.Arg964Lys)
|
rs2151859007
|
|
NM_001113378.2(FANCI):c.2909T>G (p.Leu970Arg)
|
rs376798440
|
|
NM_001113378.2(FANCI):c.2936G>A (p.Ser979Asn)
|
rs769453869
|
|
NM_001113378.2(FANCI):c.2936G>C (p.Ser979Thr)
|
rs769453869
|
|
NM_001113378.2(FANCI):c.2953C>G (p.Leu985Val)
|
|
|
NM_001113378.2(FANCI):c.2960C>G (p.Thr987Arg)
|
|
|
NM_001113378.2(FANCI):c.2969C>T (p.Thr990Ile)
|
rs762231803
|
|
NM_001113378.2(FANCI):c.2972G>C (p.Ser991Thr)
|
|
|
NM_001113378.2(FANCI):c.2990A>T (p.Glu997Val)
|
rs1567171375
|
|
NM_001113378.2(FANCI):c.2998T>A (p.Ser1000Thr)
|
rs2151859745
|
|
NM_001113378.2(FANCI):c.2T>G (p.Met1Arg)
|
|
|
NM_001113378.2(FANCI):c.3006+4C>G
|
|
|
NM_001113378.2(FANCI):c.3007-3T>A
|
|
|
NM_001113378.2(FANCI):c.301C>T (p.Pro101Ser)
|
rs770185523
|
|
NM_001113378.2(FANCI):c.3032C>T (p.Ser1011Leu)
|
|
|
NM_001113378.2(FANCI):c.3036G>T (p.Lys1012Asn)
|
|
|
NM_001113378.2(FANCI):c.3054C>G (p.Ser1018Arg)
|
|
|
NM_001113378.2(FANCI):c.3056G>C (p.Arg1019Pro)
|
rs772401747
|
|
NM_001113378.2(FANCI):c.3058+4A>G
|
rs2054616468
|
|
NM_001113378.2(FANCI):c.3058G>A (p.Glu1020Lys)
|
|
|
NM_001113378.2(FANCI):c.3059-11C>T
|
rs2054667046
|
|
NM_001113378.2(FANCI):c.3061G>A (p.Asp1021Asn)
|
rs2054667740
|
|
NM_001113378.2(FANCI):c.3061G>T (p.Asp1021Tyr)
|
rs2054667740
|
|
NM_001113378.2(FANCI):c.3062A>G (p.Asp1021Gly)
|
rs1290229004
|
|
NM_001113378.2(FANCI):c.3064G>T (p.Ala1022Ser)
|
rs1359308008
|
|
NM_001113378.2(FANCI):c.3113C>T (p.Ser1038Leu)
|
rs2151913209
|
|
NM_001113378.2(FANCI):c.3125C>G (p.Pro1042Arg)
|
|
|
NM_001113378.2(FANCI):c.3147G>T (p.Leu1049Phe)
|
|
|
NM_001113378.2(FANCI):c.3157A>G (p.Ile1053Val)
|
rs1486397190
|
|
NM_001113378.2(FANCI):c.3161A>G (p.His1054Arg)
|
|
|
NM_001113378.2(FANCI):c.3163G>A (p.Gly1055Arg)
|
|
|
NM_001113378.2(FANCI):c.3166C>A (p.His1056Asn)
|
rs2054670897
|
|
NM_001113378.2(FANCI):c.3168T>A (p.His1056Gln)
|
|
|
NM_001113378.2(FANCI):c.3172G>A (p.Gly1058Arg)
|
rs2054671049
|
|
NM_001113378.2(FANCI):c.3179T>C (p.Ile1060Thr)
|
rs201376236
|
|
NM_001113378.2(FANCI):c.3186+6A>G
|
rs910020158
|
|
NM_001113378.2(FANCI):c.3187-3C>G
|
rs2054676661
|
|
NM_001113378.2(FANCI):c.3193G>A (p.Glu1065Lys)
|
|
|
NM_001113378.2(FANCI):c.320A>G (p.Glu107Gly)
|
rs2052715611
|
|
NM_001113378.2(FANCI):c.3220A>T (p.Ile1074Leu)
|
rs1450182027
|
|
NM_001113378.2(FANCI):c.3220_3222del (p.Ile1074del)
|
|
|
NM_001113378.2(FANCI):c.3233G>C (p.Arg1078Thr)
|
|
|
NM_001113378.2(FANCI):c.3242C>T (p.Ala1081Val)
|
|
|
NM_001113378.2(FANCI):c.3254G>T (p.Cys1085Phe)
|
rs533779983
|
|
NM_001113378.2(FANCI):c.3255+1G>C
|
rs779079622
|
|
NM_001113378.2(FANCI):c.3256-8_3256-4del
|
|
|
NM_001113378.2(FANCI):c.325_326delinsAT (p.Ala109Ile)
|
rs2151267729
|
|
NM_001113378.2(FANCI):c.3272A>G (p.Gln1091Arg)
|
rs2054689057
|
|
NM_001113378.2(FANCI):c.3277G>A (p.Glu1093Lys)
|
rs758575911
|
|
NM_001113378.2(FANCI):c.3283G>A (p.Val1095Ile)
|
rs1596325131
|
|
NM_001113378.2(FANCI):c.328A>G (p.Asn110Asp)
|
rs1555442689
|
|
NM_001113378.2(FANCI):c.32A>G (p.Glu11Gly)
|
|
|
NM_001113378.2(FANCI):c.3310A>C (p.Thr1104Pro)
|
rs768735814
|
|
NM_001113378.2(FANCI):c.3311C>G (p.Thr1104Ser)
|
|
|
NM_001113378.2(FANCI):c.3316C>A (p.Leu1106Ile)
|
|
|
NM_001113378.2(FANCI):c.331G>C (p.Glu111Gln)
|
rs2151267825
|
|
NM_001113378.2(FANCI):c.3344T>C (p.Leu1115Ser)
|
rs2151919026
|
|
NM_001113378.2(FANCI):c.3354G>C (p.Glu1118Asp)
|
|
|
NM_001113378.2(FANCI):c.3354G>T (p.Glu1118Asp)
|
rs760199293
|
|
NM_001113378.2(FANCI):c.3355G>A (p.Ala1119Thr)
|
|
|
NM_001113378.2(FANCI):c.3358T>A (p.Ser1120Thr)
|
|
|
NM_001113378.2(FANCI):c.3370A>C (p.Thr1124Pro)
|
|
|
NM_001113378.2(FANCI):c.3370A>G (p.Thr1124Ala)
|
rs2151923443
|
|
NM_001113378.2(FANCI):c.3371C>G (p.Thr1124Ser)
|
|
|
NM_001113378.2(FANCI):c.337A>C (p.Ile113Leu)
|
rs766158703
|
|
NM_001113378.2(FANCI):c.3382C>G (p.Gln1128Glu)
|
rs2054705069
|
|
NM_001113378.2(FANCI):c.3389T>A (p.Val1130Asp)
|
rs764412863
|
|
NM_001113378.2(FANCI):c.3391G>C (p.Glu1131Gln)
|
|
|
NM_001113378.2(FANCI):c.3392A>G (p.Glu1131Gly)
|
|
|
NM_001113378.2(FANCI):c.3403A>T (p.Ile1135Phe)
|
|
|
NM_001113378.2(FANCI):c.3411A>T (p.Gln1137His)
|
|
|
NM_001113378.2(FANCI):c.3428C>G (p.Thr1143Arg)
|
rs772071601
|
|
NM_001113378.2(FANCI):c.3430T>C (p.Phe1144Leu)
|
|
|
NM_001113378.2(FANCI):c.3460C>T (p.Pro1154Ser)
|
|
|
NM_001113378.2(FANCI):c.3475G>T (p.Val1159Leu)
|
rs2054708416
|
|
NM_001113378.2(FANCI):c.3495C>G (p.Asp1165Glu)
|
|
|
NM_001113378.2(FANCI):c.3498G>C (p.Leu1166Phe)
|
|
|
NM_001113378.2(FANCI):c.349A>G (p.Arg117Gly)
|
rs548947826
|
|
NM_001113378.2(FANCI):c.3500G>T (p.Cys1167Phe)
|
rs1223721098
|
|
NM_001113378.2(FANCI):c.3506T>C (p.Met1169Thr)
|
rs2151924528
|
|
NM_001113378.2(FANCI):c.350G>C (p.Arg117Thr)
|
|
|
NM_001113378.2(FANCI):c.3520A>G (p.Thr1174Ala)
|
|
|
NM_001113378.2(FANCI):c.3532A>G (p.Arg1178Gly)
|
|
|
NM_001113378.2(FANCI):c.3537+3_3537+6del
|
rs780264785
|
|
NM_001113378.2(FANCI):c.3560C>A (p.Ser1187Tyr)
|
|
|
NM_001113378.2(FANCI):c.3563G>C (p.Gly1188Ala)
|
|
|
NM_001113378.2(FANCI):c.3568A>G (p.Ile1190Val)
|
rs2151940603
|
|
NM_001113378.2(FANCI):c.3578A>T (p.Asn1193Ile)
|
|
|
NM_001113378.2(FANCI):c.3591+4A>T
|
rs774180579
|
|
NM_001113378.2(FANCI):c.3592-12C>T
|
rs2054775391
|
|
NM_001113378.2(FANCI):c.3604G>C (p.Gly1202Arg)
|
rs747326740
|
|
NM_001113378.2(FANCI):c.3611A>T (p.His1204Leu)
|
|
|
NM_001113378.2(FANCI):c.3637A>G (p.Ile1213Val)
|
rs767466504
|
|
NM_001113378.2(FANCI):c.3646G>A (p.Val1216Ile)
|
rs978000003
|
|
NM_001113378.2(FANCI):c.3646G>T (p.Val1216Leu)
|
rs978000003
|
|
NM_001113378.2(FANCI):c.3651+3A>G
|
rs2151942001
|
|
NM_001113378.2(FANCI):c.3651G>A (p.Gln1217=)
|
rs766147964
|
|
NM_001113378.2(FANCI):c.3652-10A>G
|
rs202231175
|
|
NM_001113378.2(FANCI):c.3653A>G (p.Asn1218Ser)
|
rs1352752568
|
|
NM_001113378.2(FANCI):c.3667C>G (p.Leu1223Val)
|
|
|
NM_001113378.2(FANCI):c.3670A>G (p.Asn1224Asp)
|
|
|
NM_001113378.2(FANCI):c.3676A>T (p.Thr1226Ser)
|
|
|
NM_001113378.2(FANCI):c.3687A>G (p.Lys1229=)
|
rs765168059
|
|
NM_001113378.2(FANCI):c.3689A>T (p.Lys1230Met)
|
|
|
NM_001113378.2(FANCI):c.3694A>G (p.Lys1232Glu)
|
rs1252915442
|
|
NM_001113378.2(FANCI):c.3696A>T (p.Lys1232Asn)
|
rs2055028402
|
|
NM_001113378.2(FANCI):c.3709G>A (p.Ala1237Thr)
|
rs751025656
|
|
NM_001113378.2(FANCI):c.3718A>G (p.Met1240Val)
|
rs2055029234
|
|
NM_001113378.2(FANCI):c.3725G>A (p.Arg1242Lys)
|
rs2055130158
|
|
NM_001113378.2(FANCI):c.3733C>T (p.Arg1245Trp)
|
rs905867236
|
|
NM_001113378.2(FANCI):c.3737A>C (p.Glu1246Ala)
|
rs2152016970
|
|
NM_001113378.2(FANCI):c.3748A>G (p.Ile1250Val)
|
rs2055130868
|
|
NM_001113378.2(FANCI):c.3754A>G (p.Asn1252Asp)
|
rs1229086339
|
|
NM_001113378.2(FANCI):c.3776A>C (p.Gln1259Pro)
|
|
|
NM_001113378.2(FANCI):c.3790C>T (p.Leu1264Phe)
|
|
|
NM_001113378.2(FANCI):c.3796C>T (p.His1266Tyr)
|
rs2152017364
|
|
NM_001113378.2(FANCI):c.379T>G (p.Leu127Val)
|
|
|
NM_001113378.2(FANCI):c.3809A>T (p.Lys1270Met)
|
rs749287934
|
|
NM_001113378.2(FANCI):c.3816+17_3816+19del
|
rs374324314
|
|
NM_001113378.2(FANCI):c.3828G>A (p.Met1276Ile)
|
rs745401006
|
|
NM_001113378.2(FANCI):c.3830A>G (p.Gln1277Arg)
|
rs2152030610
|
|
NM_001113378.2(FANCI):c.3836T>C (p.Met1279Thr)
|
|
|
NM_001113378.2(FANCI):c.3848C>G (p.Thr1283Ser)
|
rs2055184928
|
|
NM_001113378.2(FANCI):c.3848C>T (p.Thr1283Ile)
|
rs2055184928
|
|
NM_001113378.2(FANCI):c.3864_3869del (p.Ile1289_Lys1290del)
|
rs2152030819
|
|
NM_001113378.2(FANCI):c.3872G>C (p.Gly1291Ala)
|
|
|
NM_001113378.2(FANCI):c.3875A>G (p.Asn1292Ser)
|
rs2055185392
|
|
NM_001113378.2(FANCI):c.3886A>T (p.Met1296Leu)
|
|
|
NM_001113378.2(FANCI):c.3887T>C (p.Met1296Thr)
|
|
|
NM_001113378.2(FANCI):c.3888G>A (p.Met1296Ile)
|
rs777500700
|
|
NM_001113378.2(FANCI):c.3892C>A (p.Leu1298Ile)
|
rs150076848
|
|
NM_001113378.2(FANCI):c.3895C>G (p.Arg1299Gly)
|
rs551305056
|
|
NM_001113378.2(FANCI):c.3896G>A (p.Arg1299Gln)
|
rs138663330
|
|
NM_001113378.2(FANCI):c.3906_3907inv (p.Glu1303Lys)
|
|
|
NM_001113378.2(FANCI):c.3908A>G (p.Glu1303Gly)
|
rs1596343025
|
|
NM_001113378.2(FANCI):c.3924+1G>T
|
|
|
NM_001113378.2(FANCI):c.3925-10_3935inv
|
|
|
NM_001113378.2(FANCI):c.3925-84_3925-81dup
|
rs1444126104
|
|
NM_001113378.2(FANCI):c.3956_3957del (p.Lys1319fs)
|
rs2152049557
|
|
NM_001113378.2(FANCI):c.3965C>T (p.Ala1322Val)
|
rs771174269
|
|
NM_001113378.2(FANCI):c.3971A>G (p.Lys1324Arg)
|
rs1402252175
|
|
NM_001113378.2(FANCI):c.3977G>C (p.Arg1326Thr)
|
|
|
NM_001113378.2(FANCI):c.3977_3981dup (p.Lys1328fs)
|
rs771578684
|
|
NM_001113378.2(FANCI):c.3984A>C (p.Lys1328Asn)
|
rs1159813655
|
|
NM_001113378.2(FANCI):c.3984dup (p.Ter1329IleextTer?)
|
|
|
NM_001113378.2(FANCI):c.3985T>A (p.Ter1329Lys)
|
rs1411317487
|
|
NM_001113378.2(FANCI):c.3985_*2dup (p.Ter1329=)
|
|
|
NM_001113378.2(FANCI):c.40G>A (p.Ala14Thr)
|
rs2052049943
|
|
NM_001113378.2(FANCI):c.429T>A (p.Asn143Lys)
|
rs2052718668
|
|
NM_001113378.2(FANCI):c.437A>G (p.Tyr146Cys)
|
|
|
NM_001113378.2(FANCI):c.443A>G (p.Lys148Arg)
|
rs1282962332
|
|
NM_001113378.2(FANCI):c.445G>A (p.Gly149Ser)
|
rs763494935
|
|
NM_001113378.2(FANCI):c.45C>G (p.Asp15Glu)
|
rs765811874
|
|
NM_001113378.2(FANCI):c.463G>A (p.Glu155Lys)
|
rs766640605
|
|
NM_001113378.2(FANCI):c.466T>C (p.Cys156Arg)
|
|
|
NM_001113378.2(FANCI):c.473A>T (p.Lys158Ile)
|
|
|
NM_001113378.2(FANCI):c.477G>T (p.Gln159His)
|
|
|
NM_001113378.2(FANCI):c.4G>T (p.Asp2Tyr)
|
rs2151054381
|
|
NM_001113378.2(FANCI):c.501C>T (p.Gly167=)
|
rs2151271104
|
|
NM_001113378.2(FANCI):c.503+6T>G
|
|
|
NM_001113378.2(FANCI):c.509A>T (p.Asp170Val)
|
rs1328734606
|
|
NM_001113378.2(FANCI):c.50T>G (p.Leu17Arg)
|
rs775891592
|
|
NM_001113378.2(FANCI):c.517T>C (p.Tyr173His)
|
rs2151291390
|
|
NM_001113378.2(FANCI):c.53A>G (p.Gln18Arg)
|
|
|
NM_001113378.2(FANCI):c.546-5C>T
|
rs2052826764
|
|
NM_001113378.2(FANCI):c.548A>T (p.Asp183Val)
|
|
|
NM_001113378.2(FANCI):c.553C>T (p.Pro185Ser)
|
|
|
NM_001113378.2(FANCI):c.560C>G (p.Thr187Ser)
|
|
|
NM_001113378.2(FANCI):c.563C>A (p.Ala188Glu)
|
rs2052827709
|
|
NM_001113378.2(FANCI):c.565G>A (p.Glu189Lys)
|
rs2052827867
|
|
NM_001113378.2(FANCI):c.565G>C (p.Glu189Gln)
|
|
|
NM_001113378.2(FANCI):c.568G>C (p.Glu190Gln)
|
|
|
NM_001113378.2(FANCI):c.574G>C (p.Glu192Gln)
|
|
|
NM_001113378.2(FANCI):c.587A>C (p.Glu196Ala)
|
|
|
NM_001113378.2(FANCI):c.599G>T (p.Ser200Ile)
|
|
|
NM_001113378.2(FANCI):c.603G>A (p.Met201Ile)
|
|
|
NM_001113378.2(FANCI):c.606C>T (p.Phe202=)
|
rs886051508
|
|
NM_001113378.2(FANCI):c.615G>C (p.Met205Ile)
|
|
|
NM_001113378.2(FANCI):c.620T>A (p.Leu207His)
|
|
|
NM_001113378.2(FANCI):c.623A>G (p.Gln208Arg)
|
rs368033980
|
|
NM_001113378.2(FANCI):c.634C>T (p.Pro212Ser)
|
rs2151297988
|
|
NM_001113378.2(FANCI):c.649C>T (p.Leu217Phe)
|
rs2052830473
|
|
NM_001113378.2(FANCI):c.668A>C (p.Lys223Thr)
|
|
|
NM_001113378.2(FANCI):c.669+17_669+18del
|
rs751881445
|
|
NM_001113378.2(FANCI):c.688T>G (p.Leu230Val)
|
rs2151304688
|
|
NM_001113378.2(FANCI):c.68C>G (p.Thr23Ser)
|
|
|
NM_001113378.2(FANCI):c.696A>T (p.Gly232=)
|
rs2052856419
|
|
NM_001113378.2(FANCI):c.697A>G (p.Ile233Val)
|
rs757102747
|
|
NM_001113378.2(FANCI):c.701T>C (p.Ile234Thr)
|
rs1254032261
|
|
NM_001113378.2(FANCI):c.706T>C (p.Phe236Leu)
|
rs1356319036
|
|
NM_001113378.2(FANCI):c.706_707delinsGC (p.Phe236Ala)
|
rs2151304891
|
|
NM_001113378.2(FANCI):c.746G>A (p.Ser249Asn)
|
rs2052858701
|
|
NM_001113378.2(FANCI):c.754G>C (p.Glu252Gln)
|
|
|
NM_001113378.2(FANCI):c.755+3G>A
|
rs2151305411
|
|
NM_001113378.2(FANCI):c.756-6T>C
|
|
|
NM_001113378.2(FANCI):c.756-7C>A
|
|
|
NM_001113378.2(FANCI):c.757C>A (p.Leu253Ile)
|
|
|
NM_001113378.2(FANCI):c.765T>A (p.Asp255Glu)
|
|
|
NM_001113378.2(FANCI):c.765TGT[1] (p.Val257del)
|
rs1322941307
|
|
NM_001113378.2(FANCI):c.775G>A (p.Val259Met)
|
rs2053062704
|
|
NM_001113378.2(FANCI):c.791T>A (p.Leu264His)
|
|
|
NM_001113378.2(FANCI):c.800T>C (p.Val267Ala)
|
rs1005232714
|
|
NM_001113378.2(FANCI):c.805G>A (p.Gly269Ser)
|
|
|
NM_001113378.2(FANCI):c.827T>C (p.Val276Ala)
|
|
|
NM_001113378.2(FANCI):c.835A>G (p.Ile279Val)
|
rs1434427258
|
|
NM_001113378.2(FANCI):c.838A>C (p.Lys280Gln)
|
rs2053065030
|
|
NM_001113378.2(FANCI):c.838A>G (p.Lys280Glu)
|
|
|
NM_001113378.2(FANCI):c.83A>G (p.Asp28Gly)
|
rs1060501902
|
|
NM_001113378.2(FANCI):c.845A>G (p.Asp282Gly)
|
|
|
NM_001113378.2(FANCI):c.849T>A (p.Tyr283Ter)
|
rs760412752
|
|
NM_001113378.2(FANCI):c.865C>T (p.Leu289Phe)
|
|
|
NM_001113378.2(FANCI):c.866T>C (p.Leu289Pro)
|
rs1210148997
|
|
NM_001113378.2(FANCI):c.882+6A>G
|
|
|
NM_001113378.2(FANCI):c.883-4C>G
|
rs2053277160
|
|
NM_001113378.2(FANCI):c.896G>A (p.Gly299Glu)
|
rs2053277582
|
|
NM_001113378.2(FANCI):c.898G>T (p.Asp300Tyr)
|
rs1567151740
|
|
NM_001113378.2(FANCI):c.8A>G (p.Gln3Arg)
|
|
|
NM_001113378.2(FANCI):c.911A>G (p.Asn304Ser)
|
rs2053277912
|
|
NM_001113378.2(FANCI):c.919_920delinsGT (p.Pro307Val)
|
rs2053278264
|
|
NM_001113378.2(FANCI):c.92A>T (p.Asn31Ile)
|
|
|
NM_001113378.2(FANCI):c.933TCT[2] (p.Leu314del)
|
rs766563407
|
|
NM_001113378.2(FANCI):c.937C>G (p.Leu313Val)
|
|
|
NM_001113378.2(FANCI):c.938T>C (p.Leu313Pro)
|
|
|
NM_001113378.2(FANCI):c.93T>G (p.Asn31Lys)
|
|
|
NM_001113378.2(FANCI):c.950C>G (p.Thr317Arg)
|
rs774051668
|
|
NM_001113378.2(FANCI):c.953G>T (p.Arg318Ile)
|
|
|
NM_001113378.2(FANCI):c.956T>C (p.Ile319Thr)
|
rs1024430096
|
|
NM_001113378.2(FANCI):c.96_98del (p.Leu33del)
|
rs747603151
|
|
NM_001113378.2(FANCI):c.970G>T (p.Asp324Tyr)
|
rs2151439651
|
|
NM_001113378.2(FANCI):c.976-2_977dup
|
|
|
NM_001113378.2(FANCI):c.994A>C (p.Thr332Pro)
|
rs2053317531
|
|
NM_001113378.2(FANCI):c.998C>T (p.Ser333Leu)
|
rs761982725
|
|
NM_001113378.2(FANCI):c.9G>C (p.Gln3His)
|
|
|
NM_001114134.2(EPB42):c.10+6C>T
|
|
|
NM_001114134.2(EPB42):c.1025G>A (p.Gly342Asp)
|
rs116484797
|
|
NM_001114134.2(EPB42):c.1075+14G>A
|
rs775871506
|
|
NM_001114134.2(EPB42):c.1077C>T (p.Val359=)
|
rs768178069
|
|
NM_001114134.2(EPB42):c.1097T>C (p.Val366Ala)
|
|
|
NM_001114134.2(EPB42):c.1195T>C (p.Cys399Arg)
|
rs751034626
|
|
NM_001114134.2(EPB42):c.1213G>A (p.Glu405Lys)
|
|
|
NM_001114134.2(EPB42):c.1220C>T (p.Thr407Ile)
|
rs886051166
|
|
NM_001114134.2(EPB42):c.1244G>C (p.Gly415Ala)
|
rs753161252
|
|
NM_001114134.2(EPB42):c.1315G>A (p.Glu439Lys)
|
|
|
NM_001114134.2(EPB42):c.1318+3A>G
|
rs376358319
|
|
NM_001114134.2(EPB42):c.1345G>C (p.Glu449Gln)
|
|
|
NM_001114134.2(EPB42):c.1373G>A (p.Arg458His)
|
|
|
NM_001114134.2(EPB42):c.1386C>T (p.Asn462=)
|
rs199505318
|
|
NM_001114134.2(EPB42):c.1564C>A (p.Leu522Ile)
|
|
|
NM_001114134.2(EPB42):c.1619A>G (p.Glu540Gly)
|
|
|
NM_001114134.2(EPB42):c.1682del (p.Phe561fs)
|
rs775832353
|
|
NM_001114134.2(EPB42):c.1696G>A (p.Ala566Thr)
|
|
|
NM_001114134.2(EPB42):c.1782G>A (p.Met594Ile)
|
|
|
NM_001114134.2(EPB42):c.1795G>A (p.Glu599Lys)
|
|
|
NM_001114134.2(EPB42):c.1852A>T (p.Met618Leu)
|
|
|
NM_001114134.2(EPB42):c.196+6T>A
|
rs515726214
|
|
NM_001114134.2(EPB42):c.260G>A (p.Arg87Gln)
|
|
|
NM_001114134.2(EPB42):c.466A>G (p.Met156Val)
|
|
|
NM_001114134.2(EPB42):c.538G>C (p.Asp180His)
|
|
|
NM_001114134.2(EPB42):c.718G>A (p.Ala240Thr)
|
|
|
NM_001114134.2(EPB42):c.872C>T (p.Thr291Met)
|
|
|
NM_001114134.2(EPB42):c.889G>A (p.Gly297Ser)
|
|
|
NM_001114134.2(EPB42):c.902G>A (p.Arg301His)
|
|
|
NM_001114134.2(EPB42):c.946G>A (p.Gly316Arg)
|
|
|
NM_001114134.2(EPB42):c.955C>A (p.Gln319Lys)
|
|
|
NM_001114134.2(EPB42):c.971+8G>A
|
|
|
NM_001114134.2(EPB42):c.971+9C>A
|
|
|
NM_001114636.1(FANCL):c.-34T>C
|
rs374960980
|
|
NM_001114636.1(FANCL):c.-39A>C
|
rs41281511
|
|
NM_001114636.1(FANCL):c.-40C>A
|
rs199661008
|
|
NM_001114636.1(FANCL):c.-44C>T
|
rs780348127
|
|
NM_001142285.2(RPS24):c.439G>A (p.Glu147Lys)
|
rs1848131795
|
|
NM_001142285.2(RPS24):c.522del (p.Pro173_Trp174insTer)
|
|
|
NM_001142285.2(RPS24):c.659C>T (p.Ala220Val)
|
rs530358175
|
|
NM_001142864.4(PIEZO1):c.1020+14A>G
|
rs956707579
|
|
NM_001142864.4(PIEZO1):c.1126C>G (p.Pro376Ala)
|
rs1474972037
|
|
NM_001142864.4(PIEZO1):c.1333G>A (p.Val445Ile)
|
rs902069811
|
|
NM_001142864.4(PIEZO1):c.2165C>T (p.Pro722Leu)
|
|
|
NM_001142864.4(PIEZO1):c.2860C>T (p.Arg954Trp)
|
rs765257824
|
|
NM_001142864.4(PIEZO1):c.3026A>T (p.Gln1009Leu)
|
|
|
NM_001142864.4(PIEZO1):c.3198T>A (p.Asp1066Glu)
|
|
|
NM_001142864.4(PIEZO1):c.3785G>A (p.Gly1262Asp)
|
|
|
NM_001142864.4(PIEZO1):c.4241A>G (p.His1414Arg)
|
|
|
NM_001142864.4(PIEZO1):c.4388AGCAGG[2] (p.1465EQ[1])
|
rs11281795
|
|
NM_001142864.4(PIEZO1):c.4573C>G (p.Leu1525Val)
|
|
|
NM_001142864.4(PIEZO1):c.5272G>C (p.Val1758Leu)
|
rs753642385
|
|
NM_001142864.4(PIEZO1):c.5777G>A (p.Arg1926Gln)
|
rs753296407
|
|
NM_001142864.4(PIEZO1):c.6412T>G (p.Cys2138Gly)
|
|
|
NM_001142864.4(PIEZO1):c.6439_6441del (p.Phe2147del)
|
|
|
NM_001142864.4(PIEZO1):c.6614A>G (p.Asn2205Ser)
|
|
|
NM_001142864.4(PIEZO1):c.7348_7359dup (p.Lys2453_Phe2454insValIleGlyLys)
|
|
|
NM_001142864.4(PIEZO1):c.7472_7477dup (p.Arg2491_Glu2492dup)
|
rs755226463
|
|
NM_001142864.4(PIEZO1):c.7553G>A (p.Arg2518His)
|
rs774268616
|
|
NM_001142864.4(PIEZO1):c.827C>T (p.Pro276Leu)
|
|
|
NM_001142864.4(PIEZO1):c.849-5G>A
|
rs1905373372
|
|
NM_001174125.2(SLC11A2):c.49+1757C>T
|
rs1057516023
|
|
NM_001243177.4(ALDOA):c.1010A>G (p.Asn337Ser)
|
|
|
NM_001243177.4(ALDOA):c.1033C>A (p.Pro345Thr)
|
|
|
NM_001243177.4(ALDOA):c.1085C>T (p.Ala362Val)
|
|
|
NM_001243177.4(ALDOA):c.1114A>G (p.Lys372Glu)
|
|
|
NM_001243177.4(ALDOA):c.1124T>C (p.Leu375Pro)
|
|
|
NM_001243177.4(ALDOA):c.1141G>A (p.Glu381Lys)
|
|
|
NM_001243177.4(ALDOA):c.1151A>G (p.Lys384Arg)
|
|
|
NM_001243177.4(ALDOA):c.1154G>A (p.Arg385Gln)
|
|
|
NM_001243177.4(ALDOA):c.1156G>A (p.Ala386Thr)
|
|
|
NM_001243177.4(ALDOA):c.1160del (p.Leu387fs)
|
|
|
NM_001243177.4(ALDOA):c.1169G>C (p.Ser390Thr)
|
|
|
NM_001243177.4(ALDOA):c.1171C>G (p.Leu391Val)
|
|
|
NM_001243177.4(ALDOA):c.1186A>G (p.Lys396Glu)
|
|
|
NM_001243177.4(ALDOA):c.1208C>G (p.Ala403Gly)
|
rs1261199026
|
|
NM_001243177.4(ALDOA):c.1250C>T (p.Ala417Val)
|
|
|
NM_001243177.4(ALDOA):c.174A>G (p.Gln58=)
|
rs2072147536
|
|
NM_001243177.4(ALDOA):c.181G>A (p.Ala61Thr)
|
|
|
NM_001243177.4(ALDOA):c.220G>A (p.Ala74Thr)
|
|
|
NM_001243177.4(ALDOA):c.239C>T (p.Pro80Leu)
|
|
|
NM_001243177.4(ALDOA):c.273T>G (p.Thr91=)
|
rs2151015694
|
|
NM_001243177.4(ALDOA):c.275-9C>G
|
|
|
NM_001243177.4(ALDOA):c.289C>T (p.Arg97Trp)
|
|
|
NM_001243177.4(ALDOA):c.290G>A (p.Arg97Gln)
|
rs549146709
|
|
NM_001243177.4(ALDOA):c.290G>C (p.Arg97Pro)
|
|
|
NM_001243177.4(ALDOA):c.299C>T (p.Ser100Phe)
|
|
|
NM_001243177.4(ALDOA):c.302T>C (p.Ile101Thr)
|
|
|
NM_001243177.4(ALDOA):c.316A>G (p.Thr106Ala)
|
|
|
NM_001243177.4(ALDOA):c.317C>T (p.Thr106Ile)
|
|
|
NM_001243177.4(ALDOA):c.323A>G (p.Glu108Gly)
|
|
|
NM_001243177.4(ALDOA):c.330_331delinsCT (p.Arg111Cys)
|
|
|
NM_001243177.4(ALDOA):c.357_359del (p.Ala120del)
|
|
|
NM_001243177.4(ALDOA):c.364G>C (p.Asp122His)
|
rs201468609
|
|
NM_001243177.4(ALDOA):c.368G>A (p.Arg123His)
|
|
|
NM_001243177.4(ALDOA):c.400T>C (p.Phe134Leu)
|
rs2151016133
|
|
NM_001243177.4(ALDOA):c.425C>T (p.Ala142Val)
|
|
|
NM_001243177.4(ALDOA):c.437G>A (p.Arg146His)
|
rs747482925
|
|
NM_001243177.4(ALDOA):c.466G>T (p.Gly156Cys)
|
|
|
NM_001243177.4(ALDOA):c.469G>A (p.Gly157Ser)
|
|
|
NM_001243177.4(ALDOA):c.472G>A (p.Val158Ile)
|
rs2072169825
|
|
NM_001243177.4(ALDOA):c.499G>A (p.Val167Met)
|
|
|
NM_001243177.4(ALDOA):c.505C>T (p.Pro169Ser)
|
|
|
NM_001243177.4(ALDOA):c.515G>A (p.Gly172Glu)
|
|
|
NM_001243177.4(ALDOA):c.524G>A (p.Gly175Asp)
|
|
|
NM_001243177.4(ALDOA):c.541+17del
|
rs886051891
|
|
NM_001243177.4(ALDOA):c.542-3T>C
|
|
|
NM_001243177.4(ALDOA):c.562C>T (p.Arg188Cys)
|
|
|
NM_001243177.4(ALDOA):c.590C>A (p.Ala197Asp)
|
|
|
NM_001243177.4(ALDOA):c.613G>T (p.Val205Leu)
|
|
|
NM_001243177.4(ALDOA):c.649G>A (p.Ala217Thr)
|
|
|
NM_001243177.4(ALDOA):c.659A>G (p.Glu220Gly)
|
rs886051892
|
|
NM_001243177.4(ALDOA):c.680G>A (p.Arg227His)
|
|
|
NM_001243177.4(ALDOA):c.698A>T (p.Gln233Leu)
|
rs2151018036
|
|
NM_001243177.4(ALDOA):c.702+3G>A
|
rs2072219927
|
|
NM_001243177.4(ALDOA):c.721G>A (p.Val241Met)
|
|
|
NM_001243177.4(ALDOA):c.733A>G (p.Ile245Val)
|
|
|
NM_001243177.4(ALDOA):c.763C>T (p.Arg255Cys)
|
|
|
NM_001243177.4(ALDOA):c.797C>T (p.Ala266Val)
|
|
|
NM_001243177.4(ALDOA):c.799G>C (p.Val267Leu)
|
|
|
NM_001243177.4(ALDOA):c.803A>G (p.Tyr268Cys)
|
|
|
NM_001243177.4(ALDOA):c.861G>A (p.Met287Ile)
|
|
|
NM_001243177.4(ALDOA):c.876T>G (p.His292Gln)
|
|
|
NM_001243177.4(ALDOA):c.884C>T (p.Thr295Ile)
|
|
|
NM_001243177.4(ALDOA):c.922G>C (p.Val308Leu)
|
|
|
NM_001243177.4(ALDOA):c.925A>G (p.Thr309Ala)
|
|
|
NM_001243177.4(ALDOA):c.934C>T (p.Arg312Cys)
|
|
|
NM_001243177.4(ALDOA):c.935G>A (p.Arg312His)
|
|
|
NM_001243177.4(ALDOA):c.951del (p.Ala318fs)
|
|
|
NM_001243177.4(ALDOA):c.962-2dup
|
|
|
NM_001271696.3(ABCB7):c.1106A>G (p.Lys369Arg)
|
|
|
NM_001271696.3(ABCB7):c.1200T>C (p.Ile400=)
|
rs72554634
|
|
NM_001271696.3(ABCB7):c.1936-3C>G
|
rs1602330362
|
|
NM_001271696.3(ABCB7):c.358A>G (p.Ile120Val)
|
|
|
NM_001271696.3(ABCB7):c.944+3A>G
|
rs2081385144
|
|
NM_001283009.2(RTEL1):c.2627AGA[1] (p.Lys877del)
|
rs1555812473
|
|
NM_001321759.2(CDIN1):c.206A>G (p.Tyr69Cys)
|
|
|
NM_001321759.2(CDIN1):c.298G>T (p.Ala100Ser)
|
|
|
NM_001321759.2(CDIN1):c.59C>G (p.Pro20Arg)
|
rs1595696464
|
|
NM_001321759.2(CDIN1):c.620G>A (p.Gly207Glu)
|
|
|
NM_001321759.2(CDIN1):c.812C>A (p.Thr271Lys)
|
|
|
NM_001321759.2(CDIN1):c.98C>T (p.Pro33Leu)
|
|
|
NM_001353812.2(ATP11C):c.1100A>G (p.Lys367Arg)
|
|
|
NM_001353812.2(ATP11C):c.1161A>T (p.Glu387Asp)
|
|
|
NM_001353812.2(ATP11C):c.116G>A (p.Arg39Lys)
|
|
|
NM_001353812.2(ATP11C):c.1265T>C (p.Ile422Thr)
|
|
|
NM_001353812.2(ATP11C):c.1520+6G>A
|
|
|
NM_001353812.2(ATP11C):c.1555T>A (p.Tyr519Asn)
|
|
|
NM_001353812.2(ATP11C):c.1574A>G (p.Gln525Arg)
|
|
|
NM_001353812.2(ATP11C):c.1675C>G (p.Leu559Val)
|
|
|
NM_001353812.2(ATP11C):c.2114T>C (p.Ile705Thr)
|
|
|
NM_001353812.2(ATP11C):c.2159T>G (p.Ile720Arg)
|
|
|
NM_001353812.2(ATP11C):c.2353G>T (p.Val785Leu)
|
|
|
NM_001353812.2(ATP11C):c.2543C>T (p.Ser848Phe)
|
|
|
NM_001353812.2(ATP11C):c.2702C>T (p.Pro901Leu)
|
|
|
NM_001353812.2(ATP11C):c.2964+3A>G
|
|
|
NM_001353812.2(ATP11C):c.2992A>G (p.Ile998Val)
|
|
|
NM_001353812.2(ATP11C):c.3056C>T (p.Thr1019Met)
|
|
|
NM_001353812.2(ATP11C):c.3063A>G (p.Ile1021Met)
|
|
|
NM_001353812.2(ATP11C):c.3175C>G (p.Gln1059Glu)
|
|
|
NM_001353812.2(ATP11C):c.354_357del (p.Asn118fs)
|
|
|
NM_001353812.2(ATP11C):c.995G>A (p.Arg332Gln)
|
|
|
NM_001354735.1(PFKM):c.53G>T (p.Arg18Leu)
|
rs193298317
|
|
NM_001355436.2(SPTB):c.1509G>C (p.Lys503Asn)
|
|
|
NM_001355436.2(SPTB):c.1663G>A (p.Glu555Lys)
|
|
|
NM_001355436.2(SPTB):c.2401C>T (p.His801Tyr)
|
|
|
NM_001355436.2(SPTB):c.2593G>A (p.Gly865Arg)
|
|
|
NM_001355436.2(SPTB):c.2711T>C (p.Ile904Thr)
|
|
|
NM_001355436.2(SPTB):c.2915A>G (p.Asp972Gly)
|
|
|
NM_001355436.2(SPTB):c.3005G>A (p.Arg1002His)
|
|
|
NM_001355436.2(SPTB):c.326G>A (p.Arg109His)
|
|
|
NM_001355436.2(SPTB):c.3854A>C (p.Glu1285Ala)
|
|
|
NM_001355436.2(SPTB):c.413T>C (p.Ile138Thr)
|
rs2082930394
|
|
NM_001355436.2(SPTB):c.4618A>G (p.Arg1540Gly)
|
|
|
NM_001355436.2(SPTB):c.4804G>A (p.Glu1602Lys)
|
|
|
NM_001355436.2(SPTB):c.5408del (p.Phe1803fs)
|
|
|
NM_001355436.2(SPTB):c.6041T>G (p.Phe2014Cys)
|
rs2082214097
|
|
NM_001355436.2(SPTB):c.6074T>G (p.Leu2025Arg)
|
rs121918649
|
|
NM_001355436.2(SPTB):c.6181T>G (p.Trp2061Gly)
|
rs1690651311
|
|
NM_001355436.2(SPTB):c.6223G>C (p.Glu2075Gln)
|
rs2139479145
|
|
NM_001355436.2(SPTB):c.6351AGA[1] (p.Glu2119del)
|
rs750154106
|
|
NM_001355436.2(SPTB):c.6706C>A (p.Leu2236Met)
|
rs1555364746
|
|
NM_001355436.2(SPTB):c.6737C>T (p.Ala2246Val)
|
rs1555364743
|
|
NM_001355436.2(SPTB):c.6925G>A (p.Asp2309Asn)
|
|
|
NM_001355436.2(SPTB):c.754G>A (p.Asp252Asn)
|
|
|
NM_001355436.2(SPTB):c.836A>C (p.Lys279Thr)
|
rs770880582
|
|
NM_001355436.2(SPTB):c.865C>T (p.Arg289Cys)
|
|
|
NM_001358263.1(HK1):c.75+20336T>A
|
rs769395943
|
|
NM_001360016.2(G6PD):c.*357G>A
|
|
|
NM_001360016.2(G6PD):c.-32G>T
|
|
|
NM_001360016.2(G6PD):c.1016C>T (p.Ala339Val)
|
|
|
NM_001360016.2(G6PD):c.1072T>G (p.Cys358Gly)
|
|
|
NM_001360016.2(G6PD):c.1090G>A (p.Glu364Lys)
|
|
|
NM_001360016.2(G6PD):c.1096A>G (p.Lys366Glu)
|
rs1057518975
|
|
NM_001360016.2(G6PD):c.1104G>C (p.Glu368Asp)
|
rs1421656710
|
|
NM_001360016.2(G6PD):c.1132G>A (p.Gly378Ser)
|
|
|
NM_001360016.2(G6PD):c.1146C>G (p.His382Gln)
|
|
|
NM_001360016.2(G6PD):c.1187C>T (p.Pro396Leu)
|
rs1557229683
|
|
NM_001360016.2(G6PD):c.1243C>T (p.Pro415Ser)
|
rs1603411292
|
|
NM_001360016.2(G6PD):c.1277A>G (p.Asn426Ser)
|
|
|
NM_001360016.2(G6PD):c.1278C>G (p.Asn426Lys)
|
rs1557229652
|
|
NM_001360016.2(G6PD):c.1312G>A (p.Glu438Lys)
|
|
|
NM_001360016.2(G6PD):c.1316G>A (p.Arg439His)
|
|
|
NM_001360016.2(G6PD):c.1330G>A (p.Val444Ile)
|
|
|
NM_001360016.2(G6PD):c.1365C>T (p.Ser455=)
|
|
|
NM_001360016.2(G6PD):c.1396A>G (p.Thr466Ala)
|
|
|
NM_001360016.2(G6PD):c.1412A>C (p.Gln471Pro)
|
|
|
NM_001360016.2(G6PD):c.1420C>G (p.Leu474Val)
|
rs2148328385
|
|
NM_001360016.2(G6PD):c.1441C>G (p.Pro481Ala)
|
rs202122673
|
|
NM_001360016.2(G6PD):c.1441C>T (p.Pro481Ser)
|
|
|
NM_001360016.2(G6PD):c.1457+37_1458-10dup
|
|
|
NM_001360016.2(G6PD):c.1487T>G (p.Met496Arg)
|
|
|
NM_001360016.2(G6PD):c.1496T>A (p.Val499Glu)
|
|
|
NM_001360016.2(G6PD):c.1517C>G (p.Thr506Ser)
|
|
|
NM_001360016.2(G6PD):c.152C>T (p.Thr51Ile)
|
rs2148332084
|
|
NM_001360016.2(G6PD):c.159-3C>T
|
|
|
NM_001360016.2(G6PD):c.169C>T (p.Arg57Trp)
|
|
|
NM_001360016.2(G6PD):c.173A>G (p.Asp58Gly)
|
|
|
NM_001360016.2(G6PD):c.193A>G (p.Thr65Ala)
|
rs199474830
|
|
NM_001360016.2(G6PD):c.196T>A (p.Phe66Ile)
|
rs2070404146
|
|
NM_001360016.2(G6PD):c.197T>A (p.Phe66Tyr)
|
|
|
NM_001360016.2(G6PD):c.221G>A (p.Arg74His)
|
|
|
NM_001360016.2(G6PD):c.227C>T (p.Thr76Ile)
|
rs2148331887
|
|
NM_001360016.2(G6PD):c.255G>A (p.Glu85=)
|
|
|
NM_001360016.2(G6PD):c.25C>T (p.Arg9Trp)
|
|
|
NM_001360016.2(G6PD):c.261C>T (p.Phe87=)
|
|
|
NM_001360016.2(G6PD):c.26G>A (p.Arg9Gln)
|
|
|
NM_001360016.2(G6PD):c.277G>A (p.Glu93Lys)
|
|
|
NM_001360016.2(G6PD):c.310C>T (p.Arg104Cys)
|
|
|
NM_001360016.2(G6PD):c.314A>C (p.Asn105Thr)
|
|
|
NM_001360016.2(G6PD):c.317C>T (p.Ser106Phe)
|
|
|
NM_001360016.2(G6PD):c.332A>G (p.Gln111Arg)
|
|
|
NM_001360016.2(G6PD):c.346G>C (p.Ala116Pro)
|
|
|
NM_001360016.2(G6PD):c.347C>T (p.Ala116Val)
|
|
|
NM_001360016.2(G6PD):c.34G>A (p.Val12Met)
|
|
|
NM_001360016.2(G6PD):c.359G>T (p.Arg120Leu)
|
rs782820967
|
|
NM_001360016.2(G6PD):c.376A>T (p.Asn126Tyr)
|
rs1050829
|
|
NM_001360016.2(G6PD):c.407G>A (p.Arg136His)
|
|
|
NM_001360016.2(G6PD):c.41G>T (p.Gly14Val)
|
|
|
NM_001360016.2(G6PD):c.424T>G (p.Leu142Val)
|
|
|
NM_001360016.2(G6PD):c.433A>T (p.Thr145Ser)
|
|
|
NM_001360016.2(G6PD):c.445G>A (p.Ala149Thr)
|
|
|
NM_001360016.2(G6PD):c.472T>G (p.Cys158Gly)
|
|
|
NM_001360016.2(G6PD):c.485+3A>G
|
|
|
NM_001360016.2(G6PD):c.486-10C>T
|
|
|
NM_001360016.2(G6PD):c.486-34del
|
rs3216174
|
|
NM_001360016.2(G6PD):c.499A>T (p.Ile167Phe)
|
|
|
NM_001360016.2(G6PD):c.505G>A (p.Val169Met)
|
|
|
NM_001360016.2(G6PD):c.50G>A (p.Arg17Gln)
|
|
|
NM_001360016.2(G6PD):c.545G>A (p.Arg182Gln)
|
|
|
NM_001360016.2(G6PD):c.553A>C (p.Asn185His)
|
|
|
NM_001360016.2(G6PD):c.554A>G (p.Asn185Ser)
|
|
|
NM_001360016.2(G6PD):c.559A>G (p.Ile187Val)
|
|
|
NM_001360016.2(G6PD):c.575G>A (p.Arg192His)
|
|
|
NM_001360016.2(G6PD):c.584A>G (p.Gln195Arg)
|
|
|
NM_001360016.2(G6PD):c.634A>G (p.Met212Val)
|
|
|
NM_001360016.2(G6PD):c.644+6G>A
|
|
|
NM_001360016.2(G6PD):c.645-3C>T
|
|
|
NM_001360016.2(G6PD):c.701T>C (p.Ile234Thr)
|
|
|
NM_001360016.2(G6PD):c.72T>A (p.Asp24Glu)
|
rs1557233192
|
|
NM_001360016.2(G6PD):c.73G>A (p.Ala25Thr)
|
|
|
NM_001360016.2(G6PD):c.73G>T (p.Ala25Ser)
|
|
|
NM_001360016.2(G6PD):c.751G>A (p.Asp251Asn)
|
|
|
NM_001360016.2(G6PD):c.769C>G (p.Arg257Gly)
|
rs2070375134
|
|
NM_001360016.2(G6PD):c.77T>C (p.Phe26Ser)
|
|
|
NM_001360016.2(G6PD):c.79C>T (p.His27Tyr)
|
|
|
NM_001360016.2(G6PD):c.829G>T (p.Ala277Ser)
|
rs1557230050
|
|
NM_001360016.2(G6PD):c.835A>T (p.Thr279Ser)
|
rs2148329890
|
|
NM_001360016.2(G6PD):c.84G>T (p.Gln28His)
|
|
|
NM_001360016.2(G6PD):c.857A>G (p.Asp286Gly)
|
rs2148329856
|
|
NM_001360016.2(G6PD):c.859G>A (p.Glu287Lys)
|
rs387906471
|
|
NM_001360016.2(G6PD):c.88G>A (p.Asp30Asn)
|
|
|
NM_001360016.2(G6PD):c.909_911del (p.Val304del)
|
|
|
NM_001360016.2(G6PD):c.937G>A (p.Asp313Asn)
|
|
|
NM_001360016.2(G6PD):c.945G>C (p.Glu315Asp)
|
rs2148329357
|
|
NM_001360016.2(G6PD):c.947G>A (p.Gly316Asp)
|
|
|
NM_001360016.2(G6PD):c.971A>G (p.Asp324Gly)
|
|
|
NM_001360016.2(G6PD):c.988C>T (p.Arg330Cys)
|
|
|
NM_001360016.2(G6PD):c.989G>A (p.Arg330His)
|
|
|
NM_001360016.2(G6PD):c.[202G>A;376A>G563C>T]
|
|
|
NM_001360016.2(G6PD):c.[202G>A;563C>T]
|
|
|
NM_001360016.2(G6PD):c.[311G>A;376A>G]
|
|
|
NM_001360016.2(G6PD):c.[376A>G;563C>T]
|
|
|
NM_001367805.3(KIF23):c.1228C>G (p.Leu410Val)
|
|
|
NM_001367805.3(KIF23):c.1324A>G (p.Arg442Gly)
|
|
|
NM_001367805.3(KIF23):c.1358C>G (p.Ala453Gly)
|
|
|
NM_001367805.3(KIF23):c.1400G>A (p.Arg467Lys)
|
|
|
NM_001367805.3(KIF23):c.1664A>G (p.Gln555Arg)
|
|
|
NM_001367805.3(KIF23):c.1801C>T (p.Arg601Cys)
|
|
|
NM_001367805.3(KIF23):c.2089G>A (p.Val697Ile)
|
rs376569877
|
|
NM_001367805.3(KIF23):c.2089G>C (p.Val697Leu)
|
|
|
NM_001367805.3(KIF23):c.211A>G (p.Thr71Ala)
|
|
|
NM_001367805.3(KIF23):c.2222C>T (p.Ser741Leu)
|
|
|
NM_001367805.3(KIF23):c.2237A>C (p.Lys746Thr)
|
|
|
NM_001367805.3(KIF23):c.2242C>T (p.Pro748Ser)
|
|
|
NM_001367805.3(KIF23):c.2334A>T (p.Arg778Ser)
|
|
|
NM_001367805.3(KIF23):c.2446G>A (p.Ala816Thr)
|
|
|
NM_001367805.3(KIF23):c.2452C>T (p.Pro818Ser)
|
|
|
NM_001367805.3(KIF23):c.2479C>T (p.Arg827Cys)
|
|
|
NM_001367805.3(KIF23):c.2482T>A (p.Ser828Thr)
|
|
|
NM_001367805.3(KIF23):c.2501T>C (p.Val834Ala)
|
|
|
NM_001367805.3(KIF23):c.537G>A (p.Met179Ile)
|
|
|
NM_001367805.3(KIF23):c.560G>A (p.Ser187Asn)
|
|
|
NM_001367805.3(KIF23):c.844G>A (p.Val282Ile)
|
|
|
NM_001367805.3(KIF23):c.952G>T (p.Val318Leu)
|
|
|
NM_001367805.3(KIF23):c.999C>A (p.Asp333Glu)
|
|
|
NM_001374504.1(TMPRSS6):c.*251T>A
|
rs1926220781
|
|
NM_001374504.1(TMPRSS6):c.1069T>C (p.Cys357Arg)
|
rs886057492
|
|
NM_001374504.1(TMPRSS6):c.124C>T (p.Leu42Phe)
|
rs747170531
|
|
NM_001374504.1(TMPRSS6):c.1309C>G (p.Arg437Gly)
|
rs117576908
|
|
NM_001374504.1(TMPRSS6):c.1355A>G (p.Glu452Gly)
|
rs865982171
|
|
NM_001374504.1(TMPRSS6):c.1396G>A (p.Asp466Asn)
|
|
|
NM_001374504.1(TMPRSS6):c.143T>A (p.Phe48Tyr)
|
rs745388319
|
|
NM_001374504.1(TMPRSS6):c.163G>T (p.Val55Leu)
|
rs1298407272
|
|
NM_001374504.1(TMPRSS6):c.1651G>A (p.Gly551Ser)
|
rs375396615
|
|
NM_001374504.1(TMPRSS6):c.1655C>T (p.Ser552Leu)
|
|
|
NM_001374504.1(TMPRSS6):c.1842-31CCCCA[2]
|
rs60484081
|
|
NM_001374504.1(TMPRSS6):c.1842_1843insCCACC (p.Met615fs)
|
|
|
NM_001374504.1(TMPRSS6):c.1851C>T (p.Ser617=)
|
rs1926663670
|
|
NM_001374504.1(TMPRSS6):c.1999C>T (p.His667Tyr)
|
rs1359150426
|
|
NM_001374504.1(TMPRSS6):c.2014T>C (p.Ser672Pro)
|
rs1384127820
|
|
NM_001374504.1(TMPRSS6):c.2128G>A (p.Ala710Thr)
|
|
|
NM_001374504.1(TMPRSS6):c.251G>C (p.Arg84Pro)
|
rs750512709
|
|
NM_001374504.1(TMPRSS6):c.262C>T (p.Arg88Cys)
|
|
|
NM_001374504.1(TMPRSS6):c.549G>A (p.Arg183=)
|
rs964576902
|
|
NM_001374504.1(TMPRSS6):c.631G>T (p.Gly211Cys)
|
rs2146149841
|
|
NM_001374504.1(TMPRSS6):c.65C>T (p.Ala22Val)
|
|
|
NM_001374504.1(TMPRSS6):c.752G>T (p.Arg251Leu)
|
rs749277509
|
|
NM_001374504.1(TMPRSS6):c.780G>A (p.Arg260=)
|
rs1391985221
|
|
NM_001374504.1(TMPRSS6):c.836+1G>A
|
|
|
NM_001374504.1(TMPRSS6):c.928T>C (p.Tyr310His)
|
rs916375086
|
|
NM_001374504.1(TMPRSS6):c.957_958insGGAGACC (p.Pro320fs)
|
rs1569012596
|
|
NM_001376013.1(EPB41):c.1039G>A (p.Val347Met)
|
|
|
NM_001376013.1(EPB41):c.1102A>G (p.Met368Val)
|
rs2096603473
|
|
NM_001376013.1(EPB41):c.1354C>T (p.Arg452Trp)
|
|
|
NM_001376013.1(EPB41):c.1412G>A (p.Arg471Gln)
|
|
|
NM_001376013.1(EPB41):c.1441G>A (p.Val481Ile)
|
|
|
NM_001376013.1(EPB41):c.1604C>T (p.Ala535Val)
|
|
|
NM_001376013.1(EPB41):c.172G>A (p.Gly58Arg)
|
|
|
NM_001376013.1(EPB41):c.1838C>A (p.Ala613Glu)
|
|
|
NM_001376013.1(EPB41):c.2240A>G (p.Lys747Arg)
|
|
|
NM_001376013.1(EPB41):c.2269A>G (p.Ile757Val)
|
|
|
NM_001376013.1(EPB41):c.2285C>T (p.Thr762Ile)
|
|
|
NM_001376013.1(EPB41):c.2438A>G (p.Glu813Gly)
|
|
|
NM_001376013.1(EPB41):c.2444G>A (p.Arg815His)
|
|
|
NM_001376013.1(EPB41):c.2536C>G (p.Pro846Ala)
|
|
|
NM_001376013.1(EPB41):c.2563G>A (p.Val855Ile)
|
|
|
NM_001376013.1(EPB41):c.2566C>T (p.His856Tyr)
|
|
|
NM_001376013.1(EPB41):c.263A>G (p.Lys88Arg)
|
|
|
NM_001376013.1(EPB41):c.353T>A (p.Phe118Tyr)
|
|
|
NM_001376013.1(EPB41):c.415C>T (p.Leu139Phe)
|
|
|
NM_001376013.1(EPB41):c.731A>G (p.Asn244Ser)
|
|
|
NM_001376013.1(EPB41):c.763A>G (p.Ile255Val)
|
|
|
NM_001376013.1(EPB41):c.776C>T (p.Ala259Val)
|
rs2149686920
|
|
NM_001376013.1(EPB41):c.938T>C (p.Ile313Thr)
|
|
|
NM_001376013.1(EPB41):c.979T>A (p.Leu327Ile)
|
|
|
NM_001386140.1(MTTP):c.*1003T>C
|
rs796899519
|
|
NM_001386140.1(MTTP):c.*1044G>T
|
rs886058965
|
|
NM_001386140.1(MTTP):c.*219G>A
|
rs1358012798
|
|
NM_001386140.1(MTTP):c.*41A>G
|
rs886058959
|
|
NM_001386140.1(MTTP):c.*434G>A
|
rs1358561776
|
|
NM_001386140.1(MTTP):c.*454dup
|
rs545365701
|
|
NM_001386140.1(MTTP):c.*474T>C
|
rs960894922
|
|
NM_001386140.1(MTTP):c.*517A>T
|
rs886058964
|
|
NM_001386140.1(MTTP):c.*55G>C
|
rs192882987
|
|
NM_001386140.1(MTTP):c.*82G>A
|
rs886058960
|
|
NM_001386140.1(MTTP):c.1016C>T (p.Ala339Val)
|
rs137956833
|
|
NM_001386140.1(MTTP):c.1139A>T (p.Asp380Val)
|
|
|
NM_001386140.1(MTTP):c.1344+267A>G
|
|
|
NM_001386140.1(MTTP):c.1385A>T (p.Glu462Val)
|
rs757598679
|
|
NM_001386140.1(MTTP):c.159C>A (p.Asp53Glu)
|
rs72681995
|
|
NM_001386140.1(MTTP):c.1652A>T (p.Asn551Ile)
|
rs2110230166
|
|
NM_001386140.1(MTTP):c.1729G>A (p.Ala577Thr)
|
rs1368249156
|
|
NM_001386140.1(MTTP):c.1769+12T>C
|
rs767162951
|
|
NM_001386140.1(MTTP):c.1784G>A (p.Arg595Gln)
|
rs746293101
|
|
NM_001386140.1(MTTP):c.1834G>C (p.Gly612Arg)
|
|
|
NM_001386140.1(MTTP):c.1868-6C>T
|
rs772185759
|
|
NM_001386140.1(MTTP):c.2011C>A (p.Leu671Met)
|
|
|
NM_001386140.1(MTTP):c.2195T>C (p.Ile732Thr)
|
rs767606327
|
|
NM_001386140.1(MTTP):c.2313T>C (p.Tyr771=)
|
rs1578257313
|
|
NM_001386140.1(MTTP):c.2378A>C (p.Asp793Ala)
|
rs780797954
|
|
NM_001386140.1(MTTP):c.2378A>G (p.Asp793Gly)
|
rs780797954
|
|
NM_001386140.1(MTTP):c.2513G>A (p.Arg838Lys)
|
rs1726222895
|
|
NM_001386140.1(MTTP):c.2550C>G (p.Gly850=)
|
rs1272679414
|
|
NM_001386140.1(MTTP):c.2620A>G (p.Asn874Asp)
|
rs2110239476
|
|
NM_001386140.1(MTTP):c.2629A>G (p.Met877Val)
|
rs1726272076
|
|
NM_001386140.1(MTTP):c.2663G>A (p.Ser888Asn)
|
|
|
NM_001386140.1(MTTP):c.451G>A (p.Gly151Ser)
|
rs867316992
|
|
NM_001386140.1(MTTP):c.52T>A (p.Ser18Thr)
|
rs1724921174
|
|
NM_001386140.1(MTTP):c.543T>G (p.His181Gln)
|
rs150319930
|
|
NM_001386140.1(MTTP):c.759G>A (p.Lys253=)
|
rs1725509234
|
|
NM_001386140.1(MTTP):c.782C>G (p.Thr261Ser)
|
rs1037319735
|
|
NM_001386140.1(MTTP):c.854C>T (p.Thr285Met)
|
rs566965111
|
|
NM_001386140.1(MTTP):c.927G>A (p.Arg309=)
|
rs1001965936
|
|
NM_001724.5(BPGM):c.461G>A (p.Arg154Gln)
|
|
|
NM_001724.5(BPGM):c.62G>A (p.Arg21His)
|
|
|
NM_001724.5(BPGM):c.679C>T (p.Arg227Cys)
|
|
|
NM_002049.4(GATA1):c.1005G>A (p.Met335Ile)
|
|
|
NM_002049.4(GATA1):c.1019G>A (p.Gly340Asp)
|
|
|
NM_002049.4(GATA1):c.1030G>A (p.Gly344Arg)
|
|
|
NM_002049.4(GATA1):c.1036T>C (p.Cys346Arg)
|
rs2147307619
|
|
NM_002049.4(GATA1):c.1043A>C (p.Glu348Ala)
|
|
|
NM_002049.4(GATA1):c.1066G>A (p.Gly356Ser)
|
|
|
NM_002049.4(GATA1):c.1067G>T (p.Gly356Val)
|
rs202091014
|
|
NM_002049.4(GATA1):c.107C>T (p.Ser36Phe)
|
|
|
NM_002049.4(GATA1):c.1092C>G (p.Tyr364Ter)
|
rs1557020612
|
|
NM_002049.4(GATA1):c.1096G>A (p.Gly366Ser)
|
|
|
NM_002049.4(GATA1):c.1097G>T (p.Gly366Val)
|
|
|
NM_002049.4(GATA1):c.1102G>A (p.Gly368Ser)
|
|
|
NM_002049.4(GATA1):c.1102G>C (p.Gly368Arg)
|
|
|
NM_002049.4(GATA1):c.1135C>G (p.Leu379Val)
|
|
|
NM_002049.4(GATA1):c.1160T>C (p.Leu387Pro)
|
|
|
NM_002049.4(GATA1):c.1168C>G (p.Pro390Ala)
|
|
|
NM_002049.4(GATA1):c.1175G>A (p.Gly392Asp)
|
|
|
NM_002049.4(GATA1):c.1177T>C (p.Ser393Pro)
|
rs2147307800
|
|
NM_002049.4(GATA1):c.117G>A (p.Glu39=)
|
|
|
NM_002049.4(GATA1):c.1191C>T (p.Gly397=)
|
|
|
NM_002049.4(GATA1):c.1196T>C (p.Met399Thr)
|
|
|
NM_002049.4(GATA1):c.1197G>A (p.Met399Ile)
|
|
|
NM_002049.4(GATA1):c.1198C>T (p.Pro400Ser)
|
|
|
NM_002049.4(GATA1):c.1200_1217del (p.Pro401_Thr406del)
|
|
|
NM_002049.4(GATA1):c.1201C>A (p.Pro401Thr)
|
|
|
NM_002049.4(GATA1):c.1229C>T (p.Pro410Leu)
|
|
|
NM_002049.4(GATA1):c.122T>G (p.Leu41Trp)
|
|
|
NM_002049.4(GATA1):c.143C>A (p.Thr48Asn)
|
|
|
NM_002049.4(GATA1):c.145G>A (p.Ala49Thr)
|
rs781856701
|
|
NM_002049.4(GATA1):c.149C>G (p.Pro50Arg)
|
|
|
NM_002049.4(GATA1):c.152G>A (p.Ser51Asn)
|
rs2062674054
|
|
NM_002049.4(GATA1):c.160A>T (p.Thr54Ser)
|
|
|
NM_002049.4(GATA1):c.162_164del (p.Ala59del)
|
|
|
NM_002049.4(GATA1):c.164C>T (p.Ala55Val)
|
|
|
NM_002049.4(GATA1):c.166G>A (p.Ala56Thr)
|
|
|
NM_002049.4(GATA1):c.196G>C (p.Ala66Pro)
|
rs149753411
|
|
NM_002049.4(GATA1):c.19G>C (p.Gly7Arg)
|
|
|
NM_002049.4(GATA1):c.209G>C (p.Arg70Thr)
|
|
|
NM_002049.4(GATA1):c.211C>T (p.His71Tyr)
|
rs2147305769
|
|
NM_002049.4(GATA1):c.220+5C>T
|
|
|
NM_002049.4(GATA1):c.220G>A (p.Val74Ile)
|
|
|
NM_002049.4(GATA1):c.221-3C>T
|
|
|
NM_002049.4(GATA1):c.224T>G (p.Phe75Cys)
|
|
|
NM_002049.4(GATA1):c.230T>G (p.Val77Gly)
|
rs2147306078
|
|
NM_002049.4(GATA1):c.251T>C (p.Met84Thr)
|
|
|
NM_002049.4(GATA1):c.253G>A (p.Glu85Lys)
|
|
|
NM_002049.4(GATA1):c.256G>A (p.Gly86Arg)
|
|
|
NM_002049.4(GATA1):c.265G>A (p.Gly89Arg)
|
|
|
NM_002049.4(GATA1):c.290C>T (p.Ala97Val)
|
rs2147306181
|
|
NM_002049.4(GATA1):c.300G>C (p.Lys100Asn)
|
|
|
NM_002049.4(GATA1):c.308T>C (p.Leu103Pro)
|
|
|
NM_002049.4(GATA1):c.322A>T (p.Thr108Ser)
|
|
|
NM_002049.4(GATA1):c.340G>A (p.Glu114Lys)
|
|
|
NM_002049.4(GATA1):c.347C>G (p.Ser116Cys)
|
|
|
NM_002049.4(GATA1):c.413C>T (p.Thr138Ile)
|
rs2147306456
|
|
NM_002049.4(GATA1):c.416A>G (p.Glu139Gly)
|
|
|
NM_002049.4(GATA1):c.41C>A (p.Pro14His)
|
|
|
NM_002049.4(GATA1):c.41C>T (p.Pro14Leu)
|
|
|
NM_002049.4(GATA1):c.428C>T (p.Pro143Leu)
|
|
|
NM_002049.4(GATA1):c.446G>A (p.Gly149Glu)
|
|
|
NM_002049.4(GATA1):c.480T>G (p.Asn160Lys)
|
rs143332634
|
|
NM_002049.4(GATA1):c.484G>A (p.Ala162Thr)
|
|
|
NM_002049.4(GATA1):c.494G>A (p.Gly165Asp)
|
|
|
NM_002049.4(GATA1):c.510T>G (p.Ser170Arg)
|
|
|
NM_002049.4(GATA1):c.51G>C (p.Gln17His)
|
|
|
NM_002049.4(GATA1):c.529G>A (p.Gly177Arg)
|
rs1482381233
|
|
NM_002049.4(GATA1):c.548C>T (p.Ala183Val)
|
|
|
NM_002049.4(GATA1):c.550_551delinsAA (p.Ala184Asn)
|
|
|
NM_002049.4(GATA1):c.572G>A (p.Arg191His)
|
|
|
NM_002049.4(GATA1):c.580C>G (p.Leu194Val)
|
|
|
NM_002049.4(GATA1):c.595T>C (p.Cys199Arg)
|
rs782750237
|
|
NM_002049.4(GATA1):c.599A>C (p.Glu200Ala)
|
|
|
NM_002049.4(GATA1):c.618C>A (p.Asn206Lys)
|
|
|
NM_002049.4(GATA1):c.61C>T (p.Pro21Ser)
|
|
|
NM_002049.4(GATA1):c.622G>A (p.Gly208Arg)
|
rs587776454
|
|
NM_002049.4(GATA1):c.623G>C (p.Gly208Ala)
|
|
|
NM_002049.4(GATA1):c.652G>A (p.Asp218Asn)
|
rs104894808
|
|
NM_002049.4(GATA1):c.658A>C (p.Thr220Pro)
|
|
|
NM_002049.4(GATA1):c.670C>A (p.Leu224Ile)
|
|
|
NM_002049.4(GATA1):c.679G>A (p.Ala227Thr)
|
|
|
NM_002049.4(GATA1):c.68T>G (p.Leu23Arg)
|
|
|
NM_002049.4(GATA1):c.725T>C (p.Ile242Thr)
|
|
|
NM_002049.4(GATA1):c.734A>G (p.Lys245Arg)
|
|
|
NM_002049.4(GATA1):c.736A>C (p.Lys246Gln)
|
|
|
NM_002049.4(GATA1):c.737A>G (p.Lys246Arg)
|
|
|
NM_002049.4(GATA1):c.752_754delinsTT (p.Ser251fs)
|
rs1602220695
|
|
NM_002049.4(GATA1):c.757C>T (p.Arg253Trp)
|
|
|
NM_002049.4(GATA1):c.766A>G (p.Thr256Ala)
|
|
|
NM_002049.4(GATA1):c.797C>T (p.Thr266Met)
|
|
|
NM_002049.4(GATA1):c.80C>T (p.Thr27Ile)
|
|
|
NM_002049.4(GATA1):c.821G>T (p.Ser274Ile)
|
|
|
NM_002049.4(GATA1):c.832G>A (p.Val278Met)
|
|
|
NM_002049.4(GATA1):c.870+5C>T
|
|
|
NM_002049.4(GATA1):c.884T>C (p.Leu295Pro)
|
|
|
NM_002049.4(GATA1):c.892C>T (p.Arg298Trp)
|
rs1060501251
|
|
NM_002049.4(GATA1):c.893G>A (p.Arg298Gln)
|
rs2147307511
|
|
NM_002049.4(GATA1):c.911C>T (p.Thr304Ile)
|
|
|
NM_002049.4(GATA1):c.919C>T (p.Arg307Cys)
|
rs1057518396
|
|
NM_002049.4(GATA1):c.920G>A (p.Arg307His)
|
rs1557020556
|
|
NM_002049.4(GATA1):c.944A>G (p.Lys315Arg)
|
rs782326935
|
|
NM_002049.4(GATA1):c.971C>T (p.Thr324Ile)
|
|
|
NM_002049.4(GATA1):c.976G>A (p.Ala326Thr)
|
|
|
NM_002049.4(GATA1):c.992C>A (p.Ala331Asp)
|
|
|
NM_002113.3(CFHR1):c.208A>G (p.Ile70Val)
|
|
|
NM_002250.3(KCNN4):c.1193C>T (p.Thr398Met)
|
|
|
NM_002250.3(KCNN4):c.1272G>T (p.Gln424His)
|
|
|
NM_002250.3(KCNN4):c.20T>C (p.Leu7Pro)
|
|
|
NM_002250.3(KCNN4):c.263T>G (p.Met88Arg)
|
|
|
NM_002250.3(KCNN4):c.289C>A (p.Arg97Ser)
|
|
|
NM_002250.3(KCNN4):c.340G>T (p.Val114Leu)
|
|
|
NM_002250.3(KCNN4):c.391T>A (p.Leu131Ile)
|
|
|
NM_002250.3(KCNN4):c.40C>T (p.Arg14Cys)
|
|
|
NM_002250.3(KCNN4):c.43C>G (p.Arg15Gly)
|
|
|
NM_002250.3(KCNN4):c.611C>G (p.Pro204Arg)
|
|
|
NM_002250.3(KCNN4):c.726_729del (p.Leu241_Trp242insTer)
|
|
|
NM_002250.3(KCNN4):c.766G>A (p.Val256Met)
|
|
|
NM_002250.3(KCNN4):c.787G>A (p.Gly263Ser)
|
|
|
NM_002250.3(KCNN4):c.839T>A (p.Leu280Gln)
|
|
|
NM_002250.3(KCNN4):c.8G>A (p.Gly3Glu)
|
|
|
NM_002250.3(KCNN4):c.904A>T (p.Met302Leu)
|
|
|
NM_002250.3(KCNN4):c.970A>G (p.Met324Val)
|
|
|
NM_002454.3(MTRR):c.1015C>G (p.His339Asp)
|
|
|
NM_002454.3(MTRR):c.1016A>G (p.His339Arg)
|
|
|
NM_002454.3(MTRR):c.1047_1049del (p.Lys352del)
|
|
|
NM_002454.3(MTRR):c.1056A>C (p.Lys352Asn)
|
|
|
NM_002454.3(MTRR):c.1058G>A (p.Gly353Glu)
|
|
|
NM_002454.3(MTRR):c.1063A>G (p.Thr355Ala)
|
|
|
NM_002454.3(MTRR):c.106C>T (p.His36Tyr)
|
|
|
NM_002454.3(MTRR):c.1070C>T (p.Pro357Leu)
|
rs2126751184
|
|
NM_002454.3(MTRR):c.1073A>G (p.Gln358Arg)
|
rs776598893
|
|
NM_002454.3(MTRR):c.1075C>T (p.His359Tyr)
|
rs1405292334
|
|
NM_002454.3(MTRR):c.1144A>G (p.Lys382Glu)
|
|
|
NM_002454.3(MTRR):c.1146+3A>G
|
|
|
NM_002454.3(MTRR):c.1175C>T (p.Thr392Ile)
|
|
|
NM_002454.3(MTRR):c.120A>C (p.Glu40Asp)
|
|
|
NM_002454.3(MTRR):c.1253G>C (p.Arg418Pro)
|
|
|
NM_002454.3(MTRR):c.1364G>C (p.Cys455Ser)
|
rs764469824
|
|
NM_002454.3(MTRR):c.1401T>G (p.His467Gln)
|
rs1737824362
|
|
NM_002454.3(MTRR):c.1415T>C (p.Ile472Thr)
|
|
|
NM_002454.3(MTRR):c.1430C>G (p.Ser477Cys)
|
rs1737830740
|
|
NM_002454.3(MTRR):c.1438A>G (p.Thr480Ala)
|
|
|
NM_002454.3(MTRR):c.1446G>C (p.Glu482Asp)
|
rs2126793498
|
|
NM_002454.3(MTRR):c.1454G>A (p.Arg485Gln)
|
|
|
NM_002454.3(MTRR):c.1457A>G (p.Lys486Arg)
|
|
|
NM_002454.3(MTRR):c.1490T>C (p.Val497Ala)
|
rs1737849237
|
|
NM_002454.3(MTRR):c.1492G>A (p.Ala498Thr)
|
rs1737849963
|
|
NM_002454.3(MTRR):c.1493C>T (p.Ala498Val)
|
|
|
NM_002454.3(MTRR):c.1499T>G (p.Val500Gly)
|
|
|
NM_002454.3(MTRR):c.1502T>G (p.Leu501Arg)
|
rs2126793764
|
|
NM_002454.3(MTRR):c.1515A>G (p.Ile505Met)
|
|
|
NM_002454.3(MTRR):c.1520C>T (p.Ala507Val)
|
|
|
NM_002454.3(MTRR):c.1526A>G (p.His509Arg)
|
|
|
NM_002454.3(MTRR):c.1534A>C (p.Ser512Arg)
|
|
|
NM_002454.3(MTRR):c.1552C>T (p.Pro518Ser)
|
|
|
NM_002454.3(MTRR):c.1558-6T>C
|
|
|
NM_002454.3(MTRR):c.1564A>G (p.Ile522Val)
|
|
|
NM_002454.3(MTRR):c.1583A>G (p.Asn528Ser)
|
|
|
NM_002454.3(MTRR):c.1596A>T (p.Leu532Phe)
|
|
|
NM_002454.3(MTRR):c.1619T>G (p.Ile540Ser)
|
|
|
NM_002454.3(MTRR):c.1621A>G (p.Ile541Val)
|
rs752471011
|
|
NM_002454.3(MTRR):c.1628T>A (p.Val543Glu)
|
|
|
NM_002454.3(MTRR):c.1642G>A (p.Gly548Ser)
|
rs1738413262
|
|
NM_002454.3(MTRR):c.1670A>G (p.Gln557Arg)
|
|
|
NM_002454.3(MTRR):c.1682A>G (p.Lys561Arg)
|
|
|
NM_002454.3(MTRR):c.1717G>A (p.Ala573Thr)
|
rs1738616151
|
|
NM_002454.3(MTRR):c.1720A>T (p.Met574Leu)
|
rs781416288
|
|
NM_002454.3(MTRR):c.1768A>G (p.Arg590Gly)
|
|
|
NM_002454.3(MTRR):c.1769+6G>A
|
|
|
NM_002454.3(MTRR):c.1771A>G (p.Lys591Glu)
|
|
|
NM_002454.3(MTRR):c.1784A>G (p.His595Arg)
|
|
|
NM_002454.3(MTRR):c.1796A>G (p.His599Arg)
|
|
|
NM_002454.3(MTRR):c.1818G>T (p.Lys606Asn)
|
rs939239779
|
|
NM_002454.3(MTRR):c.1832G>C (p.Arg611Thr)
|
rs2126814266
|
|
NM_002454.3(MTRR):c.1846G>A (p.Gly616Arg)
|
|
|
NM_002454.3(MTRR):c.1910_1911delinsAA (p.Ala637Glu)
|
|
|
NM_002454.3(MTRR):c.1927G>C (p.Glu643Gln)
|
|
|
NM_002454.3(MTRR):c.1953del (p.Asp652fs)
|
|
|
NM_002454.3(MTRR):c.1958C>A (p.Ala653Glu)
|
|
|
NM_002454.3(MTRR):c.1970C>T (p.Ala657Val)
|
rs1739209079
|
|
NM_002454.3(MTRR):c.1975G>T (p.Asp659Tyr)
|
|
|
NM_002454.3(MTRR):c.1977T>G (p.Asp659Glu)
|
rs751318676
|
|
NM_002454.3(MTRR):c.1998A>G (p.Gln666=)
|
rs767507060
|
|
NM_002454.3(MTRR):c.2021T>C (p.Val674Ala)
|
rs775031794
|
|
NM_002454.3(MTRR):c.2072G>A (p.Arg691His)
|
|
|
NM_002454.3(MTRR):c.220A>G (p.Lys74Glu)
|
rs1748351304
|
|
NM_002454.3(MTRR):c.253T>G (p.Phe85Val)
|
|
|
NM_002454.3(MTRR):c.26C>G (p.Ala9Gly)
|
|
|
NM_002454.3(MTRR):c.299A>G (p.Glu100Gly)
|
|
|
NM_002454.3(MTRR):c.304A>C (p.Thr102Pro)
|
|
|
NM_002454.3(MTRR):c.320G>A (p.Gly107Glu)
|
|
|
NM_002454.3(MTRR):c.350A>G (p.Glu117Gly)
|
rs2126675683
|
|
NM_002454.3(MTRR):c.361C>T (p.Arg121Trp)
|
|
|
NM_002454.3(MTRR):c.362G>A (p.Arg121Gln)
|
|
|
NM_002454.3(MTRR):c.397G>C (p.Val133Leu)
|
rs770923981
|
|
NM_002454.3(MTRR):c.449T>G (p.Leu150Arg)
|
rs2126693065
|
|
NM_002454.3(MTRR):c.485A>G (p.Glu162Gly)
|
rs1734869328
|
|
NM_002454.3(MTRR):c.496G>A (p.Ala166Thr)
|
|
|
NM_002454.3(MTRR):c.496G>T (p.Ala166Ser)
|
|
|
NM_002454.3(MTRR):c.499C>G (p.Leu167Val)
|
|
|
NM_002454.3(MTRR):c.538G>A (p.Val180Met)
|
|
|
NM_002454.3(MTRR):c.55G>A (p.Ala19Thr)
|
|
|
NM_002454.3(MTRR):c.589G>A (p.Asp197Asn)
|
rs748186027
|
|
NM_002454.3(MTRR):c.635T>C (p.Val212Ala)
|
|
|
NM_002454.3(MTRR):c.652A>C (p.Asn218His)
|
|
|
NM_002454.3(MTRR):c.652A>G (p.Asn218Asp)
|
|
|
NM_002454.3(MTRR):c.654T>G (p.Asn218Lys)
|
|
|
NM_002454.3(MTRR):c.716C>T (p.Ser239Phe)
|
rs371860776
|
|
NM_002454.3(MTRR):c.781-5T>G
|
rs2126727387
|
|
NM_002454.3(MTRR):c.794T>G (p.Val265Gly)
|
|
|
NM_002454.3(MTRR):c.829C>A (p.Pro277Thr)
|
|
|
NM_002454.3(MTRR):c.83T>C (p.Val28Ala)
|
|
|
NM_002454.3(MTRR):c.850C>T (p.Leu284Phe)
|
|
|
NM_002454.3(MTRR):c.860A>G (p.Asn287Ser)
|
rs750009895
|
|
NM_002454.3(MTRR):c.865G>A (p.Ala289Thr)
|
rs776031136
|
|
NM_002454.3(MTRR):c.908C>T (p.Thr303Ile)
|
|
|
NM_002454.3(MTRR):c.935C>G (p.Ala312Gly)
|
|
|
NM_002454.3(MTRR):c.943G>A (p.Val315Met)
|
|
|
NM_002454.3(MTRR):c.953C>T (p.Pro318Leu)
|
rs2126745024
|
|
NM_002454.3(MTRR):c.957C>G (p.Asn319Lys)
|
|
|
NM_002454.3(MTRR):c.976A>G (p.Ser326Gly)
|
rs2126745139
|
|
NM_002454.3(MTRR):c.997C>T (p.Leu333Phe)
|
|
|
NM_002454.3(MTRR):c.99A>C (p.Ala33=)
|
rs1747850617
|
|
NM_002485.5(NBN):c.1028C>T (p.Ser343Leu)
|
rs1810856747
|
|
NM_002485.5(NBN):c.1052A>C (p.Lys351Thr)
|
|
|
NM_002485.5(NBN):c.105T>G (p.Ile35Met)
|
rs78870221
|
|
NM_002485.5(NBN):c.1060C>T (p.Pro354Ser)
|
rs1064794336
|
|
NM_002485.5(NBN):c.1061C>T (p.Pro354Leu)
|
rs1354459986
|
|
NM_002485.5(NBN):c.1121C>T (p.Thr374Ile)
|
rs1174990974
|
|
NM_002485.5(NBN):c.115C>A (p.Gln39Lys)
|
rs377730553
|
|
NM_002485.5(NBN):c.1194A>C (p.Gln398His)
|
rs200046373
|
|
NM_002485.5(NBN):c.11T>C (p.Leu4Pro)
|
rs748090667
|
|
NM_002485.5(NBN):c.11T>G (p.Leu4Arg)
|
rs748090667
|
|
NM_002485.5(NBN):c.1213G>A (p.Glu405Lys)
|
rs1810666621
|
|
NM_002485.5(NBN):c.1279C>A (p.Pro427Thr)
|
rs1554559171
|
|
NM_002485.5(NBN):c.1282A>G (p.Asn428Asp)
|
rs786202302
|
|
NM_002485.5(NBN):c.1301C>T (p.Thr434Ile)
|
rs757452107
|
|
NM_002485.5(NBN):c.1352A>G (p.Gln451Arg)
|
rs1554559068
|
|
NM_002485.5(NBN):c.1370A>G (p.Asn457Ser)
|
rs876659312
|
|
NM_002485.5(NBN):c.1373A>T (p.Tyr458Phe)
|
|
|
NM_002485.5(NBN):c.1377T>G (p.Phe459Leu)
|
rs1397458119
|
|
NM_002485.5(NBN):c.1408G>A (p.Glu470Lys)
|
|
|
NM_002485.5(NBN):c.1417C>A (p.Gln473Lys)
|
rs755805461
|
|
NM_002485.5(NBN):c.1417C>G (p.Gln473Glu)
|
rs755805461
|
|
NM_002485.5(NBN):c.1423A>C (p.Met475Leu)
|
rs767106269
|
|
NM_002485.5(NBN):c.1429T>C (p.Ser477Pro)
|
rs1586054780
|
|
NM_002485.5(NBN):c.1442C>T (p.Ala481Val)
|
|
|
NM_002485.5(NBN):c.1456T>A (p.Ser486Thr)
|
|
|
NM_002485.5(NBN):c.1456T>C (p.Ser486Pro)
|
rs587781380
|
|
NM_002485.5(NBN):c.1461T>G (p.Cys487Trp)
|
|
|
NM_002485.5(NBN):c.1481A>T (p.Gln494Leu)
|
|
|
NM_002485.5(NBN):c.1495T>C (p.Ser499Pro)
|
rs1554558483
|
|
NM_002485.5(NBN):c.1499T>C (p.Leu500Ser)
|
rs1563526901
|
|
NM_002485.5(NBN):c.1534G>A (p.Glu512Lys)
|
rs1554558445
|
|
NM_002485.5(NBN):c.1594G>T (p.Val532Leu)
|
rs545435120
|
|
NM_002485.5(NBN):c.1622C>G (p.Ala541Gly)
|
rs876658501
|
|
NM_002485.5(NBN):c.1622C>T (p.Ala541Val)
|
rs876658501
|
|
NM_002485.5(NBN):c.1645A>G (p.Lys549Glu)
|
rs1810540992
|
|
NM_002485.5(NBN):c.1646A>T (p.Lys549Ile)
|
|
|
NM_002485.5(NBN):c.1650A>C (p.Lys550Asn)
|
rs1554558368
|
|
NM_002485.5(NBN):c.1654G>C (p.Glu552Gln)
|
rs1064793213
|
|
NM_002485.5(NBN):c.1666G>A (p.Val556Met)
|
rs771567358
|
|
NM_002485.5(NBN):c.1687T>A (p.Leu563Met)
|
rs1466493008
|
|
NM_002485.5(NBN):c.16C>T (p.Pro6Ser)
|
rs730881859
|
|
NM_002485.5(NBN):c.1706A>G (p.Asp569Gly)
|
|
|
NM_002485.5(NBN):c.1715C>T (p.Pro572Leu)
|
rs1554558303
|
|
NM_002485.5(NBN):c.1783A>G (p.Met595Val)
|
rs2129696684
|
|
NM_002485.5(NBN):c.179C>A (p.Thr60Lys)
|
rs1586109164
|
|
NM_002485.5(NBN):c.17C>T (p.Pro6Leu)
|
rs876658432
|
|
NM_002485.5(NBN):c.1837A>G (p.Lys613Glu)
|
rs1554558199
|
|
NM_002485.5(NBN):c.1844C>T (p.Ser615Phe)
|
rs1810520002
|
|
NM_002485.5(NBN):c.1845+4A>G
|
|
|
NM_002485.5(NBN):c.1845+5_1845+8del
|
rs1563524615
|
|
NM_002485.5(NBN):c.1846-1G>A
|
rs61753717
|
|
NM_002485.5(NBN):c.1851A>C (p.Glu617Asp)
|
rs1660299603
|
|
NM_002485.5(NBN):c.1870C>G (p.Arg624Gly)
|
rs962092255
|
|
NM_002485.5(NBN):c.1870C>T (p.Arg624Cys)
|
rs962092255
|
|
NM_002485.5(NBN):c.188T>A (p.Ile63Asn)
|
rs961554359
|
|
NM_002485.5(NBN):c.1894T>C (p.Trp632Arg)
|
rs1586043635
|
|
NM_002485.5(NBN):c.190C>T (p.Pro64Ser)
|
rs267602038
|
|
NM_002485.5(NBN):c.1913C>A (p.Ser638Tyr)
|
rs756036331
|
|
NM_002485.5(NBN):c.1914+2_1914+3del
|
rs1586043528
|
|
NM_002485.5(NBN):c.1915-5T>G
|
rs1554556608
|
|
NM_002485.5(NBN):c.191C>G (p.Pro64Arg)
|
rs1563581492
|
|
NM_002485.5(NBN):c.1940G>A (p.Ser647Asn)
|
|
|
NM_002485.5(NBN):c.1941T>A (p.Ser647Arg)
|
rs1477953712
|
|
NM_002485.5(NBN):c.194T>A (p.Val65Glu)
|
rs1563581457
|
|
NM_002485.5(NBN):c.1979G>A (p.Arg660Lys)
|
rs201781110
|
|
NM_002485.5(NBN):c.1984C>A (p.Leu662Met)
|
|
|
NM_002485.5(NBN):c.2009G>A (p.Arg670Lys)
|
rs1554556522
|
|
NM_002485.5(NBN):c.202T>G (p.Leu68Val)
|
rs1200599843
|
|
NM_002485.5(NBN):c.2039G>A (p.Gly680Asp)
|
|
|
NM_002485.5(NBN):c.2054T>C (p.Phe685Ser)
|
rs1181142133
|
|
NM_002485.5(NBN):c.2068A>C (p.Lys690Gln)
|
rs587780092
|
|
NM_002485.5(NBN):c.2070+5G>A
|
rs1323512485
|
|
NM_002485.5(NBN):c.2081C>G (p.Pro694Arg)
|
rs746090959
|
|
NM_002485.5(NBN):c.2098C>A (p.Pro700Thr)
|
rs1060503461
|
|
NM_002485.5(NBN):c.2101C>T (p.His701Tyr)
|
rs587781567
|
|
NM_002485.5(NBN):c.210T>G (p.Asp70Glu)
|
rs1554568357
|
|
NM_002485.5(NBN):c.2131C>T (p.His711Tyr)
|
rs780333168
|
|
NM_002485.5(NBN):c.2131CAT[1] (p.His712del)
|
rs786204096
|
|
NM_002485.5(NBN):c.2177A>G (p.Glu726Gly)
|
rs1554555736
|
|
NM_002485.5(NBN):c.2185-3C>T
|
rs1809726732
|
|
NM_002485.5(NBN):c.2197del (p.His733fs)
|
|
|
NM_002485.5(NBN):c.2198A>G (p.His733Arg)
|
rs998714046
|
|
NM_002485.5(NBN):c.220T>C (p.Tyr74His)
|
rs587780094
|
|
NM_002485.5(NBN):c.2210A>T (p.Glu737Val)
|
rs1554554247
|
|
NM_002485.5(NBN):c.2226T>G (p.Asp742Glu)
|
rs767523514
|
|
NM_002485.5(NBN):c.226A>G (p.Thr76Ala)
|
rs1586108851
|
|
NM_002485.5(NBN):c.244A>G (p.Lys82Glu)
|
rs193921030
|
|
NM_002485.5(NBN):c.247A>G (p.Met83Val)
|
rs955258267
|
|
NM_002485.5(NBN):c.247A>T (p.Met83Leu)
|
rs955258267
|
|
NM_002485.5(NBN):c.249G>A (p.Met83Ile)
|
rs1438838735
|
|
NM_002485.5(NBN):c.25G>A (p.Gly9Ser)
|
rs2129938127
|
|
NM_002485.5(NBN):c.260T>C (p.Phe87Ser)
|
rs786203573
|
|
NM_002485.5(NBN):c.278C>G (p.Ser93Trp)
|
|
|
NM_002485.5(NBN):c.328T>G (p.Tyr110Asp)
|
|
|
NM_002485.5(NBN):c.332A>C (p.Glu111Ala)
|
rs876659320
|
|
NM_002485.5(NBN):c.335C>G (p.Pro112Arg)
|
rs759723870
|
|
NM_002485.5(NBN):c.340G>T (p.Val114Phe)
|
rs771034958
|
|
NM_002485.5(NBN):c.34G>A (p.Gly12Arg)
|
rs878854511
|
|
NM_002485.5(NBN):c.350CTT[1] (p.Ser118del)
|
rs730881841
|
|
NM_002485.5(NBN):c.365T>C (p.Val122Ala)
|
|
|
NM_002485.5(NBN):c.38-3C>G
|
rs876661099
|
|
NM_002485.5(NBN):c.388C>G (p.Gln130Glu)
|
rs1586107038
|
|
NM_002485.5(NBN):c.392C>G (p.Ala131Gly)
|
rs1469136096
|
|
NM_002485.5(NBN):c.403C>T (p.Leu135Phe)
|
|
|
NM_002485.5(NBN):c.431C>T (p.Thr144Ile)
|
rs1554567906
|
|
NM_002485.5(NBN):c.480+3A>G
|
rs756817252
|
|
NM_002485.5(NBN):c.490G>A (p.Ala164Thr)
|
rs786201252
|
|
NM_002485.5(NBN):c.503G>A (p.Gly168Glu)
|
rs1554566728
|
|
NM_002485.5(NBN):c.515T>C (p.Val172Ala)
|
rs1554566701
|
|
NM_002485.5(NBN):c.523G>C (p.Glu175Gln)
|
rs730881861
|
|
NM_002485.5(NBN):c.536A>T (p.Glu179Val)
|
rs864622578
|
|
NM_002485.5(NBN):c.565C>G (p.Gln189Glu)
|
rs1198614767
|
|
NM_002485.5(NBN):c.572C>T (p.Pro191Leu)
|
rs876661071
|
|
NM_002485.5(NBN):c.593C>T (p.Pro198Leu)
|
rs951997505
|
|
NM_002485.5(NBN):c.601G>C (p.Asp201His)
|
rs757186245
|
|
NM_002485.5(NBN):c.602A>G (p.Asp201Gly)
|
rs587780098
|
|
NM_002485.5(NBN):c.614T>C (p.Ile205Thr)
|
rs786203215
|
|
NM_002485.5(NBN):c.625A>C (p.Asn209His)
|
|
|
NM_002485.5(NBN):c.631G>C (p.Asp211His)
|
rs752104183
|
|
NM_002485.5(NBN):c.655A>C (p.Lys219Gln)
|
rs730881846
|
|
NM_002485.5(NBN):c.697A>C (p.Lys233Gln)
|
rs1554564205
|
|
NM_002485.5(NBN):c.704A>C (p.His235Pro)
|
|
|
NM_002485.5(NBN):c.727G>C (p.Val243Leu)
|
rs786203253
|
|
NM_002485.5(NBN):c.769GAA[2] (p.Glu259del)
|
rs2129830023
|
|
NM_002485.5(NBN):c.76G>T (p.Val26Phe)
|
rs752964949
|
|
NM_002485.5(NBN):c.779A>G (p.His260Arg)
|
|
|
NM_002485.5(NBN):c.77T>C (p.Val26Ala)
|
rs781536675
|
|
NM_002485.5(NBN):c.80G>A (p.Gly27Glu)
|
rs755171159
|
|
NM_002485.5(NBN):c.812T>C (p.Val271Ala)
|
rs1811458181
|
|
NM_002485.5(NBN):c.857A>G (p.Gln286Arg)
|
rs1586086458
|
|
NM_002485.5(NBN):c.872A>C (p.Gln291Pro)
|
rs587778547
|
|
NM_002485.5(NBN):c.882G>C (p.Met294Ile)
|
rs1811450172
|
|
NM_002485.5(NBN):c.896G>A (p.Arg299Lys)
|
|
|
NM_002485.5(NBN):c.897G>T (p.Arg299Ser)
|
rs779798363
|
|
NM_002485.5(NBN):c.913A>G (p.Ile305Val)
|
|
|
NM_002485.5(NBN):c.925G>A (p.Glu309Lys)
|
rs587780101
|
|
NM_002485.5(NBN):c.953C>T (p.Thr318Ile)
|
rs1811146292
|
|
NM_002485.5(NBN):c.976C>G (p.Gln326Glu)
|
rs121908973
|
|
NM_002485.5(NBN):c.99T>G (p.Ile33Met)
|
rs1172365532
|
|
NM_002641.4(PIGA):c.1048C>T (p.Pro350Ser)
|
rs372966902
|
|
NM_002641.4(PIGA):c.142G>A (p.Gly48Ser)
|
|
|
NM_002641.4(PIGA):c.167T>C (p.Leu56Pro)
|
|
|
NM_002641.4(PIGA):c.248T>C (p.Leu83Pro)
|
rs1569180063
|
|
NM_002693.3(POLG):c.*49G>A
|
rs758880377
|
|
NM_002693.3(POLG):c.3644-178_3644-176dup
|
rs1555452148
|
|
NM_002693.3(POLG):c.3700C>G (p.Arg1234Gly)
|
rs144346886
|
|
NM_002875.5(RAD51):c.340C>G (p.Gln114Glu)
|
|
|
NM_002948.5(RPL15):c.553G>A (p.Gly185Ser)
|
|
|
NM_003126.4(SPTA1):c.*133C>T
|
rs868674912
|
|
NM_003126.4(SPTA1):c.*134T>G
|
rs866529035
|
|
NM_003126.4(SPTA1):c.*296G>T
|
rs886045377
|
|
NM_003126.4(SPTA1):c.*323T>C
|
rs867404163
|
|
NM_003126.4(SPTA1):c.*420T>A
|
rs1197068796
|
|
NM_003126.4(SPTA1):c.*509G>T
|
rs1649201828
|
|
NM_003126.4(SPTA1):c.1007C>T (p.Ser336Leu)
|
rs2101929378
|
|
NM_003126.4(SPTA1):c.1422G>T (p.Gln474His)
|
|
|
NM_003126.4(SPTA1):c.145C>T (p.Leu49Phe)
|
rs121918639
|
|
NM_003126.4(SPTA1):c.1554T>C (p.His518=)
|
rs886045392
|
|
NM_003126.4(SPTA1):c.1619C>A (p.Thr540Asn)
|
rs755070607
|
|
NM_003126.4(SPTA1):c.1690C>T (p.Arg564Trp)
|
|
|
NM_003126.4(SPTA1):c.1698C>T (p.Ala566=)
|
rs561401543
|
|
NM_003126.4(SPTA1):c.1703G>A (p.Arg568His)
|
rs200829664
|
|
NM_003126.4(SPTA1):c.2015T>C (p.Leu672Ser)
|
rs886045389
|
|
NM_003126.4(SPTA1):c.2039-15T>C
|
rs886045388
|
|
NM_003126.4(SPTA1):c.204G>C (p.Trp68Cys)
|
rs1655076780
|
|
NM_003126.4(SPTA1):c.2101C>A (p.Arg701Ser)
|
rs201048261
|
|
NM_003126.4(SPTA1):c.2160C>T (p.Ala720=)
|
rs199815523
|
|
NM_003126.4(SPTA1):c.2187C>G (p.His729Gln)
|
rs780083079
|
|
NM_003126.4(SPTA1):c.2244C>T (p.Asp748=)
|
rs886045387
|
|
NM_003126.4(SPTA1):c.2365C>G (p.Leu789Val)
|
rs779283627
|
|
NM_003126.4(SPTA1):c.2461C>A (p.Leu821Ile)
|
rs886045386
|
|
NM_003126.4(SPTA1):c.2464+13T>G
|
rs1653313076
|
|
NM_003126.4(SPTA1):c.2479G>C (p.Ala827Pro)
|
rs755782111
|
|
NM_003126.4(SPTA1):c.25G>T (p.Val9Phe)
|
rs111321033
|
|
NM_003126.4(SPTA1):c.2805+7T>G
|
rs1652909073
|
|
NM_003126.4(SPTA1):c.2846A>G (p.Asn949Ser)
|
rs576741169
|
|
NM_003126.4(SPTA1):c.2899-10T>A
|
rs1652706512
|
|
NM_003126.4(SPTA1):c.3292A>C (p.Ile1098Leu)
|
rs748421324
|
|
NM_003126.4(SPTA1):c.3331G>A (p.Asp1111Asn)
|
rs760205675
|
|
NM_003126.4(SPTA1):c.3660T>C (p.Ala1220=)
|
rs886045385
|
|
NM_003126.4(SPTA1):c.410G>A (p.Arg137His)
|
rs200716254
|
|
NM_003126.4(SPTA1):c.4224G>C (p.Glu1408Asp)
|
rs773758018
|
|
NM_003126.4(SPTA1):c.4833G>A (p.Arg1611=)
|
rs145288947
|
|
NM_003126.4(SPTA1):c.4849C>A (p.Arg1617=)
|
rs745646823
|
|
NM_003126.4(SPTA1):c.4857T>C (p.Phe1619=)
|
rs764566377
|
|
NM_003126.4(SPTA1):c.4875+12C>T
|
rs139797540
|
|
NM_003126.4(SPTA1):c.4969T>C (p.Leu1657=)
|
rs772817383
|
|
NM_003126.4(SPTA1):c.5019G>C (p.Leu1673Phe)
|
|
|
NM_003126.4(SPTA1):c.5219A>G (p.Asp1740Gly)
|
rs1651109720
|
|
NM_003126.4(SPTA1):c.5261A>G (p.Lys1754Arg)
|
|
|
NM_003126.4(SPTA1):c.5304C>T (p.Ala1768=)
|
rs886045383
|
|
NM_003126.4(SPTA1):c.5433-132G>A
|
rs1650943500
|
|
NM_003126.4(SPTA1):c.5581C>A (p.His1861Asn)
|
rs886045381
|
|
NM_003126.4(SPTA1):c.5911-3C>T
|
rs886045380
|
|
NM_003126.4(SPTA1):c.6047G>A (p.Arg2016His)
|
rs199993378
|
|
NM_003126.4(SPTA1):c.6172T>G (p.Trp2058Gly)
|
rs2101760861
|
|
NM_003126.4(SPTA1):c.6221C>T (p.Ser2074Phe)
|
|
|
NM_003126.4(SPTA1):c.6236G>T (p.Arg2079Leu)
|
rs754206036
|
|
NM_003126.4(SPTA1):c.6376G>T (p.Val2126Leu)
|
rs1210432921
|
|
NM_003126.4(SPTA1):c.6421C>T (p.Arg2141Trp)
|
rs41273519
|
|
NM_003126.4(SPTA1):c.6592G>A (p.Ala2198Thr)
|
|
|
NM_003126.4(SPTA1):c.6697T>C (p.Tyr2233His)
|
rs1649487063
|
|
NM_003126.4(SPTA1):c.6789-17_6789-16insTG
|
|
|
NM_003126.4(SPTA1):c.6989+8C>A
|
rs1185409461
|
|
NM_003126.4(SPTA1):c.853C>A (p.Pro285Thr)
|
rs150007668
|
|
NM_003126.4(SPTA1):c.958-12T>C
|
rs1654391231
|
|
NM_003126.4:c.2899-50_4338+50del
|
|
|
NM_003325.4(HIRA):c.41A>G (p.Lys14Arg)
|
|
|
NM_003680.4(YARS1):c.611A>C (p.Tyr204Ser)
|
rs1217293329
|
|
NM_004343.4(CALR):c.1154_1155insTGTCG (p.Lys385fs)
|
|
|
NM_004629.1(FANCG):c.520_523delinsC (p.Ser174_Lys175delinsGln)
|
rs1554670417
|
|
NM_004629.2(FANCG):c.*77C>T
|
rs1829028329
|
|
NM_004629.2(FANCG):c.-182del
|
rs886063899
|
|
NM_004629.2(FANCG):c.1002A>T (p.Leu334=)
|
rs984958735
|
|
NM_004629.2(FANCG):c.1003G>A (p.Ala335Thr)
|
|
|
NM_004629.2(FANCG):c.1017T>A (p.His339Gln)
|
rs764465471
|
|
NM_004629.2(FANCG):c.1019G>A (p.Cys340Tyr)
|
rs2131055383
|
|
NM_004629.2(FANCG):c.1027C>G (p.Gln343Glu)
|
rs1829085768
|
|
NM_004629.2(FANCG):c.1032C>A (p.Ser344Arg)
|
|
|
NM_004629.2(FANCG):c.1045A>T (p.Ile349Leu)
|
|
|
NM_004629.2(FANCG):c.1070C>T (p.Thr357Met)
|
|
|
NM_004629.2(FANCG):c.1076+3_1076+7del
|
rs780410457
|
|
NM_004629.2(FANCG):c.1076+4A>G
|
rs1829084813
|
|
NM_004629.2(FANCG):c.107C>T (p.Thr36Ile)
|
rs1587144550
|
|
NM_004629.2(FANCG):c.1082G>A (p.Gly361Glu)
|
rs1276088946
|
|
NM_004629.2(FANCG):c.1085A>G (p.Asp362Gly)
|
rs1829076408
|
|
NM_004629.2(FANCG):c.1087G>A (p.Ala363Thr)
|
|
|
NM_004629.2(FANCG):c.10C>G (p.Gln4Glu)
|
rs1326382443
|
|
NM_004629.2(FANCG):c.1100A>C (p.Tyr367Ser)
|
|
|
NM_004629.2(FANCG):c.1113G>A (p.Leu371=)
|
rs1829075976
|
|
NM_004629.2(FANCG):c.1125G>A (p.Leu375=)
|
|
|
NM_004629.2(FANCG):c.1126G>T (p.Asp376Tyr)
|
rs1587140699
|
|
NM_004629.2(FANCG):c.1129A>G (p.Ser377Gly)
|
|
|
NM_004629.2(FANCG):c.1143+4G>A
|
rs2131054635
|
|
NM_004629.2(FANCG):c.1143+5G>C
|
rs778328620
|
|
NM_004629.2(FANCG):c.1144-3C>T
|
|
|
NM_004629.2(FANCG):c.1152A>C (p.Pro384=)
|
rs1487531031
|
|
NM_004629.2(FANCG):c.1153C>A (p.Pro385Thr)
|
rs1288516919
|
|
NM_004629.2(FANCG):c.1153C>G (p.Pro385Ala)
|
rs1288516919
|
|
NM_004629.2(FANCG):c.1155_1163del (p.Ser387_Pro389del)
|
rs1554670228
|
|
NM_004629.2(FANCG):c.1156C>A (p.Pro386Thr)
|
|
|
NM_004629.2(FANCG):c.1157C>A (p.Pro386His)
|
rs141147618
|
|
NM_004629.2(FANCG):c.1157C>G (p.Pro386Arg)
|
rs141147618
|
|
NM_004629.2(FANCG):c.1158dup (p.Ser387fs)
|
rs757418016
|
|
NM_004629.2(FANCG):c.1161_1163dup (p.Pro389_Gly390insPro)
|
|
|
NM_004629.2(FANCG):c.1199C>T (p.Ala400Val)
|
|
|
NM_004629.2(FANCG):c.119A>C (p.Gln40Pro)
|
|
|
NM_004629.2(FANCG):c.1228G>A (p.Ala410Thr)
|
rs1829068737
|
|
NM_004629.2(FANCG):c.123G>C (p.Gln41His)
|
|
|
NM_004629.2(FANCG):c.1277C>G (p.Ser426Cys)
|
|
|
NM_004629.2(FANCG):c.1292T>C (p.Met431Thr)
|
|
|
NM_004629.2(FANCG):c.1345C>T (p.Pro449Ser)
|
rs1829066600
|
|
NM_004629.2(FANCG):c.1377G>A (p.Gln459=)
|
rs1587140019
|
|
NM_004629.2(FANCG):c.1385C>A (p.Ala462Asp)
|
rs2131053797
|
|
NM_004629.2(FANCG):c.1400G>A (p.Gly467Asp)
|
|
|
NM_004629.2(FANCG):c.1403C>T (p.Ala468Val)
|
rs1829065605
|
|
NM_004629.2(FANCG):c.1408A>G (p.Lys470Glu)
|
|
|
NM_004629.2(FANCG):c.1433+5G>T
|
|
|
NM_004629.2(FANCG):c.1437C>G (p.Cys479Trp)
|
rs904322133
|
|
NM_004629.2(FANCG):c.1441G>A (p.Glu481Lys)
|
|
|
NM_004629.2(FANCG):c.1448T>C (p.Leu483Pro)
|
rs1829061760
|
|
NM_004629.2(FANCG):c.1460C>T (p.Thr487Ile)
|
rs2131053434
|
|
NM_004629.2(FANCG):c.1462C>T (p.Pro488Ser)
|
|
|
NM_004629.2(FANCG):c.1474G>C (p.Glu492Gln)
|
rs1018027137
|
|
NM_004629.2(FANCG):c.1480+5T>C
|
rs1554670176
|
|
NM_004629.2(FANCG):c.1480+5T>G
|
rs1554670176
|
|
NM_004629.2(FANCG):c.1481G>T (p.Gly494Val)
|
rs770011456
|
|
NM_004629.2(FANCG):c.1495T>G (p.Cys499Gly)
|
|
|
NM_004629.2(FANCG):c.1498G>A (p.Glu500Lys)
|
|
|
NM_004629.2(FANCG):c.1505G>T (p.Gly502Val)
|
|
|
NM_004629.2(FANCG):c.1519G>T (p.Ala507Ser)
|
|
|
NM_004629.2(FANCG):c.1520C>T (p.Ala507Val)
|
|
|
NM_004629.2(FANCG):c.1546G>A (p.Ala516Thr)
|
|
|
NM_004629.2(FANCG):c.1556G>A (p.Ser519Asn)
|
rs1209146448
|
|
NM_004629.2(FANCG):c.1582G>A (p.Gly528Ser)
|
|
|
NM_004629.2(FANCG):c.1586A>G (p.Gln529Arg)
|
|
|
NM_004629.2(FANCG):c.1592C>T (p.Thr531Ile)
|
|
|
NM_004629.2(FANCG):c.161dup (p.His55fs)
|
rs886063898
|
|
NM_004629.2(FANCG):c.1633C>G (p.Pro545Ala)
|
rs1315654777
|
|
NM_004629.2(FANCG):c.1635A>G (p.Pro545=)
|
|
|
NM_004629.2(FANCG):c.1636+1G>A
|
rs1829054352
|
|
NM_004629.2(FANCG):c.1636+5G>A
|
rs748961871
|
|
NM_004629.2(FANCG):c.1636+7_1636+8delinsGA
|
|
|
NM_004629.2(FANCG):c.1642C>G (p.Arg548Gly)
|
|
|
NM_004629.2(FANCG):c.1643G>A (p.Arg548Gln)
|
rs1587138702
|
|
NM_004629.2(FANCG):c.1648A>G (p.Thr550Ala)
|
rs1255677446
|
|
NM_004629.2(FANCG):c.1651T>C (p.Tyr551His)
|
|
|
NM_004629.2(FANCG):c.1657C>T (p.His553Tyr)
|
rs1251259584
|
|
NM_004629.2(FANCG):c.1663C>T (p.Leu555Phe)
|
rs2131051917
|
|
NM_004629.2(FANCG):c.1668G>T (p.Gln556His)
|
rs1829042320
|
|
NM_004629.2(FANCG):c.1689G>C (p.Arg563=)
|
rs138855718
|
|
NM_004629.2(FANCG):c.1708C>T (p.Leu570Phe)
|
|
|
NM_004629.2(FANCG):c.1718G>T (p.Arg573Met)
|
rs200466062
|
|
NM_004629.2(FANCG):c.1727C>T (p.Ala576Val)
|
|
|
NM_004629.2(FANCG):c.1745A>G (p.His582Arg)
|
rs1196002404
|
|
NM_004629.2(FANCG):c.1747G>T (p.Glu583Ter)
|
rs786204205
|
|
NM_004629.2(FANCG):c.175+4G>C
|
rs1060501869
|
|
NM_004629.2(FANCG):c.1760+4A>T
|
|
|
NM_004629.2(FANCG):c.1772del (p.Leu591fs)
|
|
|
NM_004629.2(FANCG):c.1774T>C (p.Tyr592His)
|
rs768325047
|
|
NM_004629.2(FANCG):c.1777C>T (p.Leu593=)
|
rs746613103
|
|
NM_004629.2(FANCG):c.1782A>C (p.Glu594Asp)
|
|
|
NM_004629.2(FANCG):c.1785C>G (p.Ser595Arg)
|
|
|
NM_004629.2(FANCG):c.178C>T (p.Leu60Phe)
|
rs1026058105
|
|
NM_004629.2(FANCG):c.1793G>A (p.Ser598Asn)
|
|
|
NM_004629.2(FANCG):c.1794C>G (p.Ser598Arg)
|
|
|
NM_004629.2(FANCG):c.179del (p.Leu60fs)
|
rs1829130643
|
|
NM_004629.2(FANCG):c.1804C>T (p.Pro602Ser)
|
|
|
NM_004629.2(FANCG):c.1810G>C (p.Asp604His)
|
|
|
NM_004629.2(FANCG):c.1813C>T (p.Arg605Cys)
|
|
|
NM_004629.2(FANCG):c.1820C>A (p.Ala607Asp)
|
|
|
NM_004629.2(FANCG):c.1825del (p.Glu610fs)
|
|
|
NM_004629.2(FANCG):c.1837C>T (p.Arg613Trp)
|
|
|
NM_004629.2(FANCG):c.1852_1853del (p.Lys618fs)
|
rs532302967
|
|
NM_004629.2(FANCG):c.193C>T (p.Pro65Ser)
|
rs2131059151
|
|
NM_004629.2(FANCG):c.244G>A (p.Ala82Thr)
|
|
|
NM_004629.2(FANCG):c.247del (p.Ser83fs)
|
rs1829129667
|
|
NM_004629.2(FANCG):c.263T>G (p.Phe88Cys)
|
|
|
NM_004629.2(FANCG):c.292C>A (p.Arg98=)
|
rs532525154
|
|
NM_004629.2(FANCG):c.293G>T (p.Arg98Leu)
|
rs372854981
|
|
NM_004629.2(FANCG):c.308-12T>G
|
|
|
NM_004629.2(FANCG):c.308-25_308-12del
|
rs1563987234
|
|
NM_004629.2(FANCG):c.322G>A (p.Glu108Lys)
|
|
|
NM_004629.2(FANCG):c.335_352del (p.Pro112_Gly117del)
|
|
|
NM_004629.2(FANCG):c.337A>G (p.Arg113Gly)
|
rs2131058590
|
|
NM_004629.2(FANCG):c.355A>C (p.Arg119=)
|
|
|
NM_004629.2(FANCG):c.403C>A (p.Leu135Met)
|
|
|
NM_004629.2(FANCG):c.410C>G (p.Ser137Cys)
|
rs1203036492
|
|
NM_004629.2(FANCG):c.412G>C (p.Ala138Pro)
|
|
|
NM_004629.2(FANCG):c.420C>A (p.His140Gln)
|
|
|
NM_004629.2(FANCG):c.431G>C (p.Gly144Ala)
|
rs767880403
|
|
NM_004629.2(FANCG):c.443C>T (p.Ala148Val)
|
rs1829121038
|
|
NM_004629.2(FANCG):c.448T>C (p.Trp150Arg)
|
rs202114813
|
|
NM_004629.2(FANCG):c.486A>T (p.Leu162Phe)
|
rs779677132
|
|
NM_004629.2(FANCG):c.497T>C (p.Leu166Pro)
|
|
|
NM_004629.2(FANCG):c.510+5T>C
|
rs921564097
|
|
NM_004629.2(FANCG):c.511-6dup
|
rs376732298
|
|
NM_004629.2(FANCG):c.517G>A (p.Ala173Thr)
|
|
|
NM_004629.2(FANCG):c.525G>C (p.Lys175Asn)
|
|
|
NM_004629.2(FANCG):c.52G>A (p.Glu18Lys)
|
rs1829144761
|
|
NM_004629.2(FANCG):c.542_556del (p.Leu181_Ser185del)
|
|
|
NM_004629.2(FANCG):c.54A>C (p.Glu18Asp)
|
rs1563987701
|
|
NM_004629.2(FANCG):c.560C>A (p.Pro187Gln)
|
|
|
NM_004629.2(FANCG):c.563C>T (p.Ala188Val)
|
|
|
NM_004629.2(FANCG):c.572T>C (p.Leu191Ser)
|
|
|
NM_004629.2(FANCG):c.580C>T (p.Pro194Ser)
|
rs1554670412
|
|
NM_004629.2(FANCG):c.587C>T (p.Thr196Ile)
|
|
|
NM_004629.2(FANCG):c.595G>A (p.Asp199Asn)
|
|
|
NM_004629.2(FANCG):c.616G>A (p.Val206Ile)
|
rs768648609
|
|
NM_004629.2(FANCG):c.626C>T (p.Thr209Ile)
|
rs1382724792
|
|
NM_004629.2(FANCG):c.633T>A (p.Phe211Leu)
|
|
|
NM_004629.2(FANCG):c.63C>A (p.Asp21Glu)
|
|
|
NM_004629.2(FANCG):c.647-3C>T
|
rs1311964497
|
|
NM_004629.2(FANCG):c.64C>T (p.Arg22Trp)
|
|
|
NM_004629.2(FANCG):c.65G>A (p.Arg22Gln)
|
rs1829144428
|
|
NM_004629.2(FANCG):c.662T>A (p.Ile221Asn)
|
rs1829099355
|
|
NM_004629.2(FANCG):c.665C>T (p.Thr222Ile)
|
|
|
NM_004629.2(FANCG):c.690C>A (p.Ser230Arg)
|
rs1333976481
|
|
NM_004629.2(FANCG):c.706G>A (p.Ala236Thr)
|
rs2131056564
|
|
NM_004629.2(FANCG):c.70G>C (p.Val24Leu)
|
|
|
NM_004629.2(FANCG):c.714C>T (p.Gly238=)
|
|
|
NM_004629.2(FANCG):c.725G>A (p.Arg242Gln)
|
|
|
NM_004629.2(FANCG):c.736G>T (p.Val246Phe)
|
|
|
NM_004629.2(FANCG):c.743T>C (p.Val248Ala)
|
rs1221668009
|
|
NM_004629.2(FANCG):c.763T>C (p.Cys255Arg)
|
|
|
NM_004629.2(FANCG):c.764G>A (p.Cys255Tyr)
|
|
|
NM_004629.2(FANCG):c.769C>G (p.Arg257Gly)
|
rs759314410
|
|
NM_004629.2(FANCG):c.770G>A (p.Arg257His)
|
rs372234656
|
|
NM_004629.2(FANCG):c.787C>G (p.Gln263Glu)
|
rs149721361
|
|
NM_004629.2(FANCG):c.801G>C (p.Leu267Phe)
|
rs1482595465
|
|
NM_004629.2(FANCG):c.807G>C (p.Leu269Phe)
|
|
|
NM_004629.2(FANCG):c.833C>T (p.Ala278Val)
|
rs771395169
|
|
NM_004629.2(FANCG):c.84+53G>T
|
rs1563987651
|
|
NM_004629.2(FANCG):c.844C>T (p.Pro282Ser)
|
rs770009374
|
|
NM_004629.2(FANCG):c.865C>A (p.Leu289Ile)
|
|
|
NM_004629.2(FANCG):c.889A>G (p.Thr297Ala)
|
|
|
NM_004629.2(FANCG):c.895G>A (p.Glu299Lys)
|
|
|
NM_004629.2(FANCG):c.899del (p.Leu300fs)
|
rs1829092191
|
|
NM_004629.2(FANCG):c.906_907delinsAT (p.Ser302Arg)
|
|
|
NM_004629.2(FANCG):c.910G>C (p.Glu304Gln)
|
|
|
NM_004629.2(FANCG):c.916C>A (p.Leu306Ile)
|
|
|
NM_004629.2(FANCG):c.917T>C (p.Leu306Pro)
|
|
|
NM_004629.2(FANCG):c.920T>G (p.Val307Gly)
|
rs774982952
|
|
NM_004629.2(FANCG):c.955C>A (p.Pro319Thr)
|
|
|
NM_004629.2(FANCG):c.957G>A (p.Pro319=)
|
rs145092954
|
|
NM_004629.2(FANCG):c.965T>G (p.Leu322Arg)
|
|
|
NM_004629.2(FANCG):c.978A>G (p.Glu326=)
|
|
|
NM_005050.4(ABCD4):c.1006G>A (p.Asp336Asn)
|
|
|
NM_005050.4(ABCD4):c.1009G>A (p.Val337Met)
|
|
|
NM_005050.4(ABCD4):c.1034G>T (p.Gly345Val)
|
|
|
NM_005050.4(ABCD4):c.1040T>C (p.Leu347Pro)
|
|
|
NM_005050.4(ABCD4):c.1049C>T (p.Thr350Met)
|
rs35073715
|
|
NM_005050.4(ABCD4):c.1060A>G (p.Met354Val)
|
|
|
NM_005050.4(ABCD4):c.1124C>T (p.Pro375Leu)
|
|
|
NM_005050.4(ABCD4):c.1190C>G (p.Pro397Arg)
|
|
|
NM_005050.4(ABCD4):c.1255A>G (p.Ile419Val)
|
rs2081160348
|
|
NM_005050.4(ABCD4):c.1265A>G (p.Asn422Ser)
|
|
|
NM_005050.4(ABCD4):c.1283C>T (p.Thr428Ile)
|
rs945270666
|
|
NM_005050.4(ABCD4):c.1306G>A (p.Gly436Ser)
|
rs2081143591
|
|
NM_005050.4(ABCD4):c.1316C>T (p.Thr439Met)
|
rs200761248
|
|
NM_005050.4(ABCD4):c.131T>A (p.Leu44Gln)
|
|
|
NM_005050.4(ABCD4):c.1324C>T (p.Arg442Trp)
|
|
|
NM_005050.4(ABCD4):c.1328-10G>A
|
|
|
NM_005050.4(ABCD4):c.1333G>A (p.Val445Met)
|
|
|
NM_005050.4(ABCD4):c.1352T>C (p.Phe451Ser)
|
rs1594861158
|
|
NM_005050.4(ABCD4):c.1357C>T (p.Pro453Ser)
|
|
|
NM_005050.4(ABCD4):c.1420-3del
|
|
|
NM_005050.4(ABCD4):c.1426T>C (p.Tyr476His)
|
rs1045211254
|
|
NM_005050.4(ABCD4):c.1450G>A (p.Asp484Asn)
|
|
|
NM_005050.4(ABCD4):c.1507-3_1507-2dup
|
rs746298456
|
|
NM_005050.4(ABCD4):c.1520C>A (p.Ala507Glu)
|
|
|
NM_005050.4(ABCD4):c.1528G>C (p.Glu510Gln)
|
|
|
NM_005050.4(ABCD4):c.1559+7_1559+11del
|
rs1381694360
|
|
NM_005050.4(ABCD4):c.157G>A (p.Glu53Lys)
|
rs2140107509
|
|
NM_005050.4(ABCD4):c.1588C>A (p.Gln530Lys)
|
|
|
NM_005050.4(ABCD4):c.1633G>A (p.Ala545Thr)
|
rs754370477
|
|
NM_005050.4(ABCD4):c.1667_1668del (p.Glu556fs)
|
|
|
NM_005050.4(ABCD4):c.1678A>G (p.Ser560Gly)
|
rs2139698542
|
|
NM_005050.4(ABCD4):c.1680C>G (p.Ser560Arg)
|
rs138753274
|
|
NM_005050.4(ABCD4):c.1691G>A (p.Arg564His)
|
rs1204078851
|
|
NM_005050.4(ABCD4):c.1696G>A (p.Gly566Ser)
|
|
|
NM_005050.4(ABCD4):c.1715C>T (p.Thr572Met)
|
|
|
NM_005050.4(ABCD4):c.1743C>G (p.Ser581Arg)
|
|
|
NM_005050.4(ABCD4):c.1774C>T (p.Leu592Phe)
|
rs2139689489
|
|
NM_005050.4(ABCD4):c.1805G>C (p.Arg602Thr)
|
|
|
NM_005050.4(ABCD4):c.1A>G (p.Met1Val)
|
rs2140174798
|
|
NM_005050.4(ABCD4):c.225C>G (p.Asp75Glu)
|
rs2140093719
|
|
NM_005050.4(ABCD4):c.227T>C (p.Leu76Ser)
|
|
|
NM_005050.4(ABCD4):c.23C>T (p.Pro8Leu)
|
|
|
NM_005050.4(ABCD4):c.286-3C>T
|
|
|
NM_005050.4(ABCD4):c.286-7T>A
|
|
|
NM_005050.4(ABCD4):c.379C>T (p.Arg127Cys)
|
|
|
NM_005050.4(ABCD4):c.384G>A (p.Ala128=)
|
|
|
NM_005050.4(ABCD4):c.398A>G (p.Asn133Ser)
|
|
|
NM_005050.4(ABCD4):c.39G>T (p.Arg13Ser)
|
|
|
NM_005050.4(ABCD4):c.400G>A (p.Val134Met)
|
|
|
NM_005050.4(ABCD4):c.40C>G (p.Pro14Ala)
|
rs972140495
|
|
NM_005050.4(ABCD4):c.419A>C (p.Asp140Ala)
|
|
|
NM_005050.4(ABCD4):c.41C>T (p.Pro14Leu)
|
|
|
NM_005050.4(ABCD4):c.434G>T (p.Arg145Leu)
|
rs150967109
|
|
NM_005050.4(ABCD4):c.448G>A (p.Val150Met)
|
rs574925291
|
|
NM_005050.4(ABCD4):c.467A>T (p.Gln156Leu)
|
|
|
NM_005050.4(ABCD4):c.469C>G (p.Leu157Val)
|
|
|
NM_005050.4(ABCD4):c.500C>A (p.Ser167Tyr)
|
rs778245157
|
|
NM_005050.4(ABCD4):c.505T>C (p.Phe169Leu)
|
|
|
NM_005050.4(ABCD4):c.511C>T (p.Leu171Phe)
|
|
|
NM_005050.4(ABCD4):c.619C>A (p.Pro207Thr)
|
|
|
NM_005050.4(ABCD4):c.637G>T (p.Val213Leu)
|
|
|
NM_005050.4(ABCD4):c.664T>C (p.Phe222Leu)
|
|
|
NM_005050.4(ABCD4):c.675G>C (p.Lys225Asn)
|
|
|
NM_005050.4(ABCD4):c.688C>T (p.Arg230Trp)
|
|
|
NM_005050.4(ABCD4):c.714C>G (p.Phe238Leu)
|
|
|
NM_005050.4(ABCD4):c.716A>G (p.Tyr239Cys)
|
|
|
NM_005050.4(ABCD4):c.739A>C (p.Met247Leu)
|
|
|
NM_005050.4(ABCD4):c.754A>G (p.Arg252Gly)
|
|
|
NM_005050.4(ABCD4):c.761A>G (p.Gln254Arg)
|
|
|
NM_005050.4(ABCD4):c.801G>C (p.Glu267Asp)
|
rs1566959741
|
|
NM_005050.4(ABCD4):c.814+6C>T
|
rs1012967402
|
|
NM_005050.4(ABCD4):c.821T>A (p.Ile274Asn)
|
rs2081908223
|
|
NM_005050.4(ABCD4):c.893A>G (p.Tyr298Cys)
|
|
|
NM_005050.4(ABCD4):c.89T>G (p.Val30Gly)
|
rs2084043062
|
|
NM_005050.4(ABCD4):c.979C>G (p.Leu327Val)
|
|
|
NM_005050.4(ABCD4):c.995C>T (p.Thr332Met)
|
|
|
NM_005142.3(CBLIF):c.1001A>T (p.Asn334Ile)
|
|
|
NM_005142.3(CBLIF):c.1051C>G (p.Gln351Glu)
|
|
|
NM_005142.3(CBLIF):c.1054C>T (p.Arg352Cys)
|
|
|
NM_005142.3(CBLIF):c.1067T>C (p.Met356Thr)
|
|
|
NM_005142.3(CBLIF):c.106G>A (p.Val36Ile)
|
|
|
NM_005142.3(CBLIF):c.1074-14A>G
|
rs541611142
|
|
NM_005142.3(CBLIF):c.1087A>G (p.Met363Val)
|
|
|
NM_005142.3(CBLIF):c.1108G>A (p.Val370Ile)
|
|
|
NM_005142.3(CBLIF):c.1129G>A (p.Ala377Thr)
|
|
|
NM_005142.3(CBLIF):c.1181del (p.Pro394fs)
|
rs1565206584
|
|
NM_005142.3(CBLIF):c.1221C>G (p.His407Gln)
|
rs148989677
|
|
NM_005142.3(CBLIF):c.128T>C (p.Met43Thr)
|
|
|
NM_005142.3(CBLIF):c.138G>A (p.Ser46=)
|
rs200472519
|
|
NM_005142.3(CBLIF):c.20A>T (p.Tyr7Phe)
|
|
|
NM_005142.3(CBLIF):c.232C>T (p.Gln78Ter)
|
rs1565210437
|
|
NM_005142.3(CBLIF):c.271C>A (p.Gln91Lys)
|
|
|
NM_005142.3(CBLIF):c.311G>A (p.Arg104Gln)
|
|
|
NM_005142.3(CBLIF):c.331T>A (p.Ser111Thr)
|
|
|
NM_005142.3(CBLIF):c.334A>C (p.Ile112Leu)
|
|
|
NM_005142.3(CBLIF):c.371-4G>A
|
|
|
NM_005142.3(CBLIF):c.373C>T (p.Pro125Ser)
|
|
|
NM_005142.3(CBLIF):c.446C>A (p.Ala149Glu)
|
rs781509423
|
|
NM_005142.3(CBLIF):c.47C>T (p.Ala16Val)
|
|
|
NM_005142.3(CBLIF):c.510A>T (p.Val170=)
|
|
|
NM_005142.3(CBLIF):c.524T>C (p.Met175Thr)
|
rs886048404
|
|
NM_005142.3(CBLIF):c.574G>A (p.Glu192Lys)
|
rs1866524413
|
|
NM_005142.3(CBLIF):c.62A>G (p.Gln21Arg)
|
|
|
NM_005142.3(CBLIF):c.749C>T (p.Thr250Met)
|
|
|
NM_005142.3(CBLIF):c.754A>T (p.Met252Leu)
|
rs1866468089
|
|
NM_005142.3(CBLIF):c.778G>C (p.Gly260Arg)
|
rs756139879
|
|
NM_005142.3(CBLIF):c.78C>T (p.Cys26=)
|
|
|
NM_005142.3(CBLIF):c.834G>C (p.Lys278Asn)
|
rs886048403
|
|
NM_005142.3(CBLIF):c.953T>C (p.Ile318Thr)
|
|
|
NM_005142.3(CBLIF):c.997A>G (p.Ile333Val)
|
|
|
NM_005236.3(ERCC4):c.1003A>G (p.Met335Val)
|
|
|
NM_005236.3(ERCC4):c.100G>A (p.Val34Met)
|
|
|
NM_005236.3(ERCC4):c.1027G>A (p.Val343Ile)
|
rs755219554
|
|
NM_005236.3(ERCC4):c.1031A>G (p.Tyr344Cys)
|
rs145851520
|
|
NM_005236.3(ERCC4):c.1031A>T (p.Tyr344Phe)
|
rs145851520
|
|
NM_005236.3(ERCC4):c.1045G>A (p.Ala349Thr)
|
rs201410515
|
|
NM_005236.3(ERCC4):c.1066A>G (p.Lys356Glu)
|
|
|
NM_005236.3(ERCC4):c.106G>C (p.Ala36Pro)
|
|
|
NM_005236.3(ERCC4):c.1114G>A (p.Glu372Lys)
|
rs2032238318
|
|
NM_005236.3(ERCC4):c.1148C>T (p.Ala383Val)
|
|
|
NM_005236.3(ERCC4):c.1204G>C (p.Gly402Arg)
|
|
|
NM_005236.3(ERCC4):c.1235G>A (p.Ser412Asn)
|
|
|
NM_005236.3(ERCC4):c.1243C>G (p.Arg415Gly)
|
rs374470560
|
|
NM_005236.3(ERCC4):c.1283C>T (p.Ala428Val)
|
|
|
NM_005236.3(ERCC4):c.1289C>A (p.Ala430Asp)
|
|
|
NM_005236.3(ERCC4):c.130C>T (p.Leu44Phe)
|
rs1596616623
|
|
NM_005236.3(ERCC4):c.1339G>C (p.Glu447Gln)
|
|
|
NM_005236.3(ERCC4):c.1346T>C (p.Val449Ala)
|
|
|
NM_005236.3(ERCC4):c.1351A>G (p.Met451Val)
|
|
|
NM_005236.3(ERCC4):c.1366G>A (p.Glu456Lys)
|
|
|
NM_005236.3(ERCC4):c.1376C>T (p.Ser459Leu)
|
|
|
NM_005236.3(ERCC4):c.1391A>T (p.Lys464Ile)
|
rs780488548
|
|
NM_005236.3(ERCC4):c.1400A>G (p.Lys467Arg)
|
|
|
NM_005236.3(ERCC4):c.1404A>C (p.Arg468Ser)
|
|
|
NM_005236.3(ERCC4):c.1463A>G (p.Lys488Arg)
|
rs886051664
|
|
NM_005236.3(ERCC4):c.1484C>T (p.Thr495Ile)
|
rs2141607404
|
|
NM_005236.3(ERCC4):c.1488A>C (p.Gln496His)
|
rs146601373
|
|
NM_005236.3(ERCC4):c.1522G>A (p.Gly508Arg)
|
rs2141607524
|
|
NM_005236.3(ERCC4):c.152T>G (p.Leu51Arg)
|
|
|
NM_005236.3(ERCC4):c.1541A>G (p.Tyr514Cys)
|
|
|
NM_005236.3(ERCC4):c.1558_1563del (p.Ser520_Ser521del)
|
rs2141607630
|
|
NM_005236.3(ERCC4):c.1559G>A (p.Ser520Asn)
|
|
|
NM_005236.3(ERCC4):c.158G>A (p.Cys53Tyr)
|
|
|
NM_005236.3(ERCC4):c.1622A>G (p.Asp541Gly)
|
|
|
NM_005236.3(ERCC4):c.1630T>C (p.Phe544Leu)
|
|
|
NM_005236.3(ERCC4):c.1633G>C (p.Gly545Arg)
|
|
|
NM_005236.3(ERCC4):c.1657A>G (p.Ile553Val)
|
rs376216413
|
|
NM_005236.3(ERCC4):c.167C>T (p.Ala56Val)
|
|
|
NM_005236.3(ERCC4):c.1681A>T (p.Ser561Cys)
|
rs1443581940
|
|
NM_005236.3(ERCC4):c.1691A>G (p.Tyr564Cys)
|
rs765254949
|
|
NM_005236.3(ERCC4):c.1693G>A (p.Ala565Thr)
|
|
|
NM_005236.3(ERCC4):c.1694C>T (p.Ala565Val)
|
|
|
NM_005236.3(ERCC4):c.1732G>A (p.Val578Met)
|
|
|
NM_005236.3(ERCC4):c.1739T>C (p.Leu580Pro)
|
rs2032274770
|
|
NM_005236.3(ERCC4):c.1762G>A (p.Val588Ile)
|
|
|
NM_005236.3(ERCC4):c.1763T>C (p.Val588Ala)
|
|
|
NM_005236.3(ERCC4):c.1765C>G (p.Arg589Gly)
|
rs147105770
|
|
NM_005236.3(ERCC4):c.1787C>T (p.Ala596Val)
|
|
|
NM_005236.3(ERCC4):c.1799G>A (p.Gly600Glu)
|
rs1336284412
|
|
NM_005236.3(ERCC4):c.17C>T (p.Pro6Leu)
|
rs2031938186
|
|
NM_005236.3(ERCC4):c.1805C>T (p.Pro602Leu)
|
|
|
NM_005236.3(ERCC4):c.1817A>T (p.Tyr606Phe)
|
|
|
NM_005236.3(ERCC4):c.1828T>C (p.Tyr610His)
|
|
|
NM_005236.3(ERCC4):c.1840A>G (p.Thr614Ala)
|
|
|
NM_005236.3(ERCC4):c.1852C>T (p.Arg618Cys)
|
|
|
NM_005236.3(ERCC4):c.1853G>T (p.Arg618Leu)
|
|
|
NM_005236.3(ERCC4):c.1856A>G (p.Tyr619Cys)
|
|
|
NM_005236.3(ERCC4):c.1870C>A (p.Arg624=)
|
rs766395322
|
|
NM_005236.3(ERCC4):c.1870C>T (p.Arg624Trp)
|
rs766395322
|
|
NM_005236.3(ERCC4):c.187A>C (p.Asn63His)
|
rs1203098300
|
|
NM_005236.3(ERCC4):c.1883A>C (p.Glu628Ala)
|
|
|
NM_005236.3(ERCC4):c.1900A>G (p.Ile634Val)
|
|
|
NM_005236.3(ERCC4):c.1902A>G (p.Ile634Met)
|
|
|
NM_005236.3(ERCC4):c.1903A>C (p.Arg635=)
|
|
|
NM_005236.3(ERCC4):c.190A>T (p.Thr64Ser)
|
|
|
NM_005236.3(ERCC4):c.1921G>C (p.Val641Leu)
|
rs770771750
|
|
NM_005236.3(ERCC4):c.1923_1924delinsGT (p.Val642Phe)
|
|
|
NM_005236.3(ERCC4):c.1997C>T (p.Ser666Phe)
|
|
|
NM_005236.3(ERCC4):c.1999A>G (p.Thr667Ala)
|
|
|
NM_005236.3(ERCC4):c.199G>A (p.Ala67Thr)
|
|
|
NM_005236.3(ERCC4):c.19G>A (p.Ala7Thr)
|
rs771117594
|
|
NM_005236.3(ERCC4):c.1A>G (p.Met1Val)
|
|
|
NM_005236.3(ERCC4):c.2000C>A (p.Thr667Asn)
|
|
|
NM_005236.3(ERCC4):c.2026G>C (p.Glu676Gln)
|
rs2141619663
|
|
NM_005236.3(ERCC4):c.2050A>G (p.Ile684Val)
|
|
|
NM_005236.3(ERCC4):c.2062A>T (p.Met688Leu)
|
|
|
NM_005236.3(ERCC4):c.207+5G>C
|
rs766355378
|
|
NM_005236.3(ERCC4):c.207+6G>T
|
rs2141937518
|
|
NM_005236.3(ERCC4):c.2075G>A (p.Arg692Gln)
|
|
|
NM_005236.3(ERCC4):c.208-3T>C
|
rs773956647
|
|
NM_005236.3(ERCC4):c.208-3T>G
|
|
|
NM_005236.3(ERCC4):c.208G>A (p.Glu70Lys)
|
|
|
NM_005236.3(ERCC4):c.20C>T (p.Ala7Val)
|
|
|
NM_005236.3(ERCC4):c.2104C>T (p.Arg702Trp)
|
|
|
NM_005236.3(ERCC4):c.2108G>T (p.Gly703Val)
|
rs774900622
|
|
NM_005236.3(ERCC4):c.2110A>G (p.Ile704Val)
|
|
|
NM_005236.3(ERCC4):c.2114A>T (p.Asp705Val)
|
rs2032542117
|
|
NM_005236.3(ERCC4):c.2123C>T (p.Pro708Leu)
|
|
|
NM_005236.3(ERCC4):c.2129C>A (p.Thr710Asn)
|
rs1442567731
|
|
NM_005236.3(ERCC4):c.2143G>T (p.Asp715Tyr)
|
rs2141619950
|
|
NM_005236.3(ERCC4):c.214T>C (p.Phe72Leu)
|
rs2141939855
|
|
NM_005236.3(ERCC4):c.2164A>G (p.Met722Val)
|
rs754771000
|
|
NM_005236.3(ERCC4):c.2177G>A (p.Arg726His)
|
rs368096448
|
|
NM_005236.3(ERCC4):c.2191G>A (p.Asp731Asn)
|
|
|
NM_005236.3(ERCC4):c.2212A>G (p.Asn738Asp)
|
rs2032546331
|
|
NM_005236.3(ERCC4):c.2227A>G (p.Ser743Gly)
|
|
|
NM_005236.3(ERCC4):c.2236A>G (p.Ile746Val)
|
rs756050702
|
|
NM_005236.3(ERCC4):c.2249G>A (p.Arg750His)
|
rs748870665
|
|
NM_005236.3(ERCC4):c.2252A>G (p.Tyr751Cys)
|
|
|
NM_005236.3(ERCC4):c.2277T>G (p.Ile759Met)
|
|
|
NM_005236.3(ERCC4):c.2308A>T (p.Thr770Ser)
|
rs2032550979
|
|
NM_005236.3(ERCC4):c.2317G>C (p.Gly773Arg)
|
|
|
NM_005236.3(ERCC4):c.2369T>C (p.Leu790Pro)
|
|
|
NM_005236.3(ERCC4):c.2369T>G (p.Leu790Arg)
|
|
|
NM_005236.3(ERCC4):c.2377C>G (p.Leu793Val)
|
|
|
NM_005236.3(ERCC4):c.2386C>A (p.Pro796Thr)
|
|
|
NM_005236.3(ERCC4):c.2387C>T (p.Pro796Leu)
|
rs1303709169
|
|
NM_005236.3(ERCC4):c.2419C>A (p.His807Asn)
|
|
|
NM_005236.3(ERCC4):c.241G>A (p.Val81Ile)
|
rs55761944
|
|
NM_005236.3(ERCC4):c.2448_2449insCAACAAAGCACAAAG (p.Leu816_Lys817insGlnGlnSerThrLys)
|
|
|
NM_005236.3(ERCC4):c.2449A>C (p.Lys817Gln)
|
|
|
NM_005236.3(ERCC4):c.2471A>T (p.Asp824Val)
|
|
|
NM_005236.3(ERCC4):c.2474C>T (p.Ala825Val)
|
rs765253522
|
|
NM_005236.3(ERCC4):c.247C>T (p.His83Tyr)
|
|
|
NM_005236.3(ERCC4):c.2480C>A (p.Thr827Lys)
|
|
|
NM_005236.3(ERCC4):c.2491A>G (p.Ile831Val)
|
|
|
NM_005236.3(ERCC4):c.2505_2506inv (p.Glu836Lys)
|
|
|
NM_005236.3(ERCC4):c.250C>T (p.Leu84Phe)
|
rs2141939932
|
|
NM_005236.3(ERCC4):c.2524G>T (p.Glu842Ter)
|
|
|
NM_005236.3(ERCC4):c.2539G>T (p.Gly847Cys)
|
|
|
NM_005236.3(ERCC4):c.2575A>T (p.Asn859Tyr)
|
rs2032559742
|
|
NM_005236.3(ERCC4):c.2585A>G (p.Asn862Ser)
|
|
|
NM_005236.3(ERCC4):c.25C>G (p.Arg9Gly)
|
|
|
NM_005236.3(ERCC4):c.2603A>G (p.His868Arg)
|
rs368064765
|
|
NM_005236.3(ERCC4):c.2612A>G (p.Lys871Arg)
|
|
|
NM_005236.3(ERCC4):c.2619C>G (p.Ile873Met)
|
rs759042927
|
|
NM_005236.3(ERCC4):c.2620G>A (p.Ala874Thr)
|
rs2032561804
|
|
NM_005236.3(ERCC4):c.2621C>T (p.Ala874Val)
|
rs766946690
|
|
NM_005236.3(ERCC4):c.262G>A (p.Val88Ile)
|
|
|
NM_005236.3(ERCC4):c.2633C>T (p.Ala878Val)
|
|
|
NM_005236.3(ERCC4):c.2634_2637del (p.Leu879fs)
|
|
|
NM_005236.3(ERCC4):c.2641C>G (p.Gln881Glu)
|
|
|
NM_005236.3(ERCC4):c.2650C>T (p.Leu884Phe)
|
|
|
NM_005236.3(ERCC4):c.2654C>T (p.Thr885Met)
|
|
|
NM_005236.3(ERCC4):c.2656A>G (p.Ser886Gly)
|
|
|
NM_005236.3(ERCC4):c.2674G>A (p.Ala892Thr)
|
rs2141621448
|
|
NM_005236.3(ERCC4):c.26G>C (p.Arg9Pro)
|
rs1214498950
|
|
NM_005236.3(ERCC4):c.2707A>G (p.Thr903Ala)
|
|
|
NM_005236.3(ERCC4):c.2738A>G (p.Lys913Arg)
|
rs2032565777
|
|
NM_005236.3(ERCC4):c.2749T>C (p.Ter917Arg)
|
|
|
NM_005236.3(ERCC4):c.278C>T (p.Thr93Ile)
|
|
|
NM_005236.3(ERCC4):c.293A>G (p.Tyr98Cys)
|
|
|
NM_005236.3(ERCC4):c.2T>G (p.Met1Arg)
|
|
|
NM_005236.3(ERCC4):c.313G>C (p.Gly105Arg)
|
|
|
NM_005236.3(ERCC4):c.314G>C (p.Gly105Ala)
|
|
|
NM_005236.3(ERCC4):c.317T>G (p.Val106Gly)
|
|
|
NM_005236.3(ERCC4):c.321A>G (p.Ile107Met)
|
|
|
NM_005236.3(ERCC4):c.336G>T (p.Arg112Ser)
|
|
|
NM_005236.3(ERCC4):c.34A>G (p.Met12Val)
|
|
|
NM_005236.3(ERCC4):c.37G>T (p.Ala13Ser)
|
rs374243778
|
|
NM_005236.3(ERCC4):c.404G>A (p.Arg135Lys)
|
rs772606808
|
|
NM_005236.3(ERCC4):c.409C>G (p.His137Asp)
|
|
|
NM_005236.3(ERCC4):c.413G>A (p.Arg138Lys)
|
rs1567243693
|
|
NM_005236.3(ERCC4):c.421G>A (p.Glu141Lys)
|
|
|
NM_005236.3(ERCC4):c.431A>G (p.Gln144Arg)
|
|
|
NM_005236.3(ERCC4):c.449G>C (p.Arg150Pro)
|
|
|
NM_005236.3(ERCC4):c.457C>T (p.Arg153Cys)
|
rs1307031587
|
|
NM_005236.3(ERCC4):c.458G>A (p.Arg153His)
|
|
|
NM_005236.3(ERCC4):c.475G>A (p.Gly159Ser)
|
rs181993439
|
|
NM_005236.3(ERCC4):c.484A>G (p.Lys162Glu)
|
rs2032078220
|
|
NM_005236.3(ERCC4):c.499A>G (p.Asn167Asp)
|
rs2032078374
|
|
NM_005236.3(ERCC4):c.4G>C (p.Glu2Gln)
|
rs373789508
|
|
NM_005236.3(ERCC4):c.503C>G (p.Ala168Gly)
|
rs2020961
|
|
NM_005236.3(ERCC4):c.503C>T (p.Ala168Val)
|
rs2020961
|
|
NM_005236.3(ERCC4):c.514G>C (p.Asp172His)
|
rs1405781900
|
|
NM_005236.3(ERCC4):c.520G>A (p.Gly174Ser)
|
|
|
NM_005236.3(ERCC4):c.529C>T (p.His177Tyr)
|
|
|
NM_005236.3(ERCC4):c.532G>A (p.Val178Met)
|
|
|
NM_005236.3(ERCC4):c.550A>G (p.Asn184Asp)
|
|
|
NM_005236.3(ERCC4):c.652A>G (p.Met218Val)
|
|
|
NM_005236.3(ERCC4):c.661A>G (p.Thr221Ala)
|
|
|
NM_005236.3(ERCC4):c.671C>T (p.Ala224Val)
|
rs2141946160
|
|
NM_005236.3(ERCC4):c.685A>G (p.Ile229Val)
|
|
|
NM_005236.3(ERCC4):c.712A>G (p.Lys238Glu)
|
rs2032105702
|
|
NM_005236.3(ERCC4):c.730A>C (p.Asn244His)
|
|
|
NM_005236.3(ERCC4):c.736T>A (p.Ser246Thr)
|
|
|
NM_005236.3(ERCC4):c.73G>C (p.Glu25Gln)
|
|
|
NM_005236.3(ERCC4):c.745G>T (p.Val249Leu)
|
|
|
NM_005236.3(ERCC4):c.751G>A (p.Asp251Asn)
|
rs2032106630
|
|
NM_005236.3(ERCC4):c.769G>T (p.Ala257Ser)
|
rs962536419
|
|
NM_005236.3(ERCC4):c.776G>A (p.Gly259Glu)
|
|
|
NM_005236.3(ERCC4):c.790A>G (p.Lys264Glu)
|
rs1463126902
|
|
NM_005236.3(ERCC4):c.800G>A (p.Arg267His)
|
rs143479220
|
|
NM_005236.3(ERCC4):c.800G>T (p.Arg267Leu)
|
rs143479220
|
|
NM_005236.3(ERCC4):c.811G>T (p.Asp271Tyr)
|
|
|
NM_005236.3(ERCC4):c.820T>C (p.Trp274Arg)
|
|
|
NM_005236.3(ERCC4):c.823C>T (p.His275Tyr)
|
rs2141948413
|
|
NM_005236.3(ERCC4):c.83A>G (p.Asp28Gly)
|
|
|
NM_005236.3(ERCC4):c.848C>A (p.Ser283Tyr)
|
|
|
NM_005236.3(ERCC4):c.870A>G (p.Ile290Met)
|
rs1237587281
|
|
NM_005236.3(ERCC4):c.889T>A (p.Tyr297Asn)
|
rs778480216
|
|
NM_005236.3(ERCC4):c.890A>G (p.Tyr297Cys)
|
rs996851583
|
|
NM_005236.3(ERCC4):c.90C>G (p.Asp30Glu)
|
|
|
NM_005236.3(ERCC4):c.913A>T (p.Thr305Ser)
|
rs772385411
|
|
NM_005236.3(ERCC4):c.924T>A (p.Asn308Lys)
|
|
|
NM_005236.3(ERCC4):c.937C>G (p.Leu313Val)
|
|
|
NM_005236.3(ERCC4):c.950A>G (p.Glu317Gly)
|
rs773938568
|
|
NM_005236.3(ERCC4):c.985C>T (p.Leu329Phe)
|
|
|
NM_005334.3(HCFC1):c.1030C>T (p.Arg344Cys)
|
rs2065417308
|
|
NM_005334.3(HCFC1):c.1031G>A (p.Arg344His)
|
rs2148589382
|
|
NM_005334.3(HCFC1):c.1133A>G (p.Asn378Ser)
|
|
|
NM_005334.3(HCFC1):c.1159G>A (p.Val387Met)
|
rs782132752
|
|
NM_005334.3(HCFC1):c.1228A>G (p.Thr410Ala)
|
|
|
NM_005334.3(HCFC1):c.1309G>A (p.Val437Met)
|
rs2065413556
|
|
NM_005334.3(HCFC1):c.1355C>T (p.Ala452Val)
|
rs868948937
|
|
NM_005334.3(HCFC1):c.1427C>T (p.Thr476Ile)
|
rs782364666
|
|
NM_005334.3(HCFC1):c.1697C>T (p.Thr566Met)
|
rs1557115869
|
|
NM_005334.3(HCFC1):c.1763C>A (p.Thr588Asn)
|
|
|
NM_005334.3(HCFC1):c.1790C>T (p.Ser597Phe)
|
|
|
NM_005334.3(HCFC1):c.1888C>T (p.Arg630Cys)
|
|
|
NM_005334.3(HCFC1):c.2028+6T>C
|
|
|
NM_005334.3(HCFC1):c.218C>T (p.Ala73Val)
|
rs397515486
|
|
NM_005334.3(HCFC1):c.2231C>T (p.Ala744Val)
|
rs2065388763
|
|
NM_005334.3(HCFC1):c.2287C>T (p.Pro763Ser)
|
|
|
NM_005334.3(HCFC1):c.2353+6G>A
|
|
|
NM_005334.3(HCFC1):c.2360C>A (p.Thr787Asn)
|
|
|
NM_005334.3(HCFC1):c.2376C>G (p.Ile792Met)
|
|
|
NM_005334.3(HCFC1):c.2516C>T (p.Pro839Leu)
|
|
|
NM_005334.3(HCFC1):c.2542A>G (p.Thr848Ala)
|
rs1131691855
|
|
NM_005334.3(HCFC1):c.2668G>A (p.Val890Ile)
|
rs949004802
|
|
NM_005334.3(HCFC1):c.2972C>G (p.Thr991Ser)
|
|
|
NM_005334.3(HCFC1):c.3233C>T (p.Pro1078Leu)
|
|
|
NM_005334.3(HCFC1):c.3257G>A (p.Gly1086Asp)
|
rs2065362050
|
|
NM_005334.3(HCFC1):c.3260C>G (p.Thr1087Ser)
|
|
|
NM_005334.3(HCFC1):c.3314C>T (p.Ser1105Leu)
|
rs2065360852
|
|
NM_005334.3(HCFC1):c.3317A>C (p.Asn1106Thr)
|
rs2065360777
|
|
NM_005334.3(HCFC1):c.3337G>A (p.Glu1113Lys)
|
|
|
NM_005334.3(HCFC1):c.3398G>A (p.Arg1133Gln)
|
|
|
NM_005334.3(HCFC1):c.3443G>A (p.Arg1148Gln)
|
|
|
NM_005334.3(HCFC1):c.3506G>A (p.Arg1169His)
|
|
|
NM_005334.3(HCFC1):c.3584C>T (p.Pro1195Leu)
|
|
|
NM_005334.3(HCFC1):c.3602C>G (p.Pro1201Arg)
|
|
|
NM_005334.3(HCFC1):c.3674T>C (p.Ile1225Thr)
|
rs2065355018
|
|
NM_005334.3(HCFC1):c.3689C>T (p.Ala1230Val)
|
|
|
NM_005334.3(HCFC1):c.3707C>T (p.Ala1236Val)
|
|
|
NM_005334.3(HCFC1):c.3767C>T (p.Pro1256Leu)
|
|
|
NM_005334.3(HCFC1):c.3779G>T (p.Ser1260Ile)
|
rs2065352881
|
|
NM_005334.3(HCFC1):c.3807_3812del (p.1270VT[1])
|
|
|
NM_005334.3(HCFC1):c.3811A>G (p.Thr1271Ala)
|
|
|
NM_005334.3(HCFC1):c.3839G>C (p.Cys1280Ser)
|
|
|
NM_005334.3(HCFC1):c.3880T>C (p.Cys1294Arg)
|
rs2148571129
|
|
NM_005334.3(HCFC1):c.3980C>T (p.Thr1327Met)
|
|
|
NM_005334.3(HCFC1):c.3995C>T (p.Thr1332Met)
|
|
|
NM_005334.3(HCFC1):c.4006G>A (p.Ala1336Thr)
|
|
|
NM_005334.3(HCFC1):c.4063C>T (p.Arg1355Cys)
|
|
|
NM_005334.3(HCFC1):c.4064G>A (p.Arg1355His)
|
|
|
NM_005334.3(HCFC1):c.4148C>T (p.Ser1383Phe)
|
|
|
NM_005334.3(HCFC1):c.4210G>C (p.Gly1404Arg)
|
rs2148569217
|
|
NM_005334.3(HCFC1):c.4217C>T (p.Ala1406Val)
|
|
|
NM_005334.3(HCFC1):c.4291C>T (p.His1431Tyr)
|
rs2065343736
|
|
NM_005334.3(HCFC1):c.4410T>A (p.Ser1470Arg)
|
|
|
NM_005334.3(HCFC1):c.4423A>G (p.Thr1475Ala)
|
rs2065338418
|
|
NM_005334.3(HCFC1):c.4475C>T (p.Pro1492Leu)
|
|
|
NM_005334.3(HCFC1):c.4481C>T (p.Pro1494Leu)
|
|
|
NM_005334.3(HCFC1):c.4499C>T (p.Pro1500Leu)
|
rs1277991321
|
|
NM_005334.3(HCFC1):c.4532G>A (p.Arg1511His)
|
|
|
NM_005334.3(HCFC1):c.4576G>A (p.Ala1526Thr)
|
rs782652831
|
|
NM_005334.3(HCFC1):c.4619C>G (p.Thr1540Ser)
|
|
|
NM_005334.3(HCFC1):c.4727C>A (p.Pro1576Gln)
|
|
|
NM_005334.3(HCFC1):c.4735C>G (p.Gln1579Glu)
|
rs1603294733
|
|
NM_005334.3(HCFC1):c.481G>A (p.Asp161Asn)
|
|
|
NM_005334.3(HCFC1):c.4880C>T (p.Thr1627Met)
|
rs2148563099
|
|
NM_005334.3(HCFC1):c.4948G>A (p.Gly1650Ser)
|
|
|
NM_005334.3(HCFC1):c.4983_4988del (p.Val1662_Thr1663del)
|
rs1275942023
|
|
NM_005334.3(HCFC1):c.5003G>C (p.Gly1668Ala)
|
|
|
NM_005334.3(HCFC1):c.5030G>A (p.Gly1677Asp)
|
|
|
NM_005334.3(HCFC1):c.5053G>A (p.Val1685Met)
|
rs2065317868
|
|
NM_005334.3(HCFC1):c.5097_5126dup (p.Gln1699_Gln1708dup)
|
rs2148561074
|
|
NM_005334.3(HCFC1):c.5192A>G (p.Asn1731Ser)
|
rs1376359622
|
|
NM_005334.3(HCFC1):c.5244C>T (p.Pro1748=)
|
|
|
NM_005334.3(HCFC1):c.5276A>C (p.Asn1759Thr)
|
rs782384589
|
|
NM_005334.3(HCFC1):c.5302G>A (p.Val1768Met)
|
|
|
NM_005334.3(HCFC1):c.5305G>A (p.Val1769Met)
|
|
|
NM_005334.3(HCFC1):c.5468T>C (p.Val1823Ala)
|
rs2065309711
|
|
NM_005334.3(HCFC1):c.5698A>G (p.Ser1900Gly)
|
rs2065303644
|
|
NM_005334.3(HCFC1):c.5782G>A (p.Ala1928Thr)
|
|
|
NM_005334.3(HCFC1):c.6029C>G (p.Thr2010Ser)
|
|
|
NM_005334.3(HCFC1):c.6069G>T (p.Met2023Ile)
|
rs2148553327
|
|
NM_005334.3(HCFC1):c.6094G>A (p.Ala2032Thr)
|
|
|
NM_005334.3(HCFC1):c.712+6C>T
|
rs1165322624
|
|
NM_005334.3(HCFC1):c.73delinsCCAC (p.Trp25delinsProArg)
|
rs2065524568
|
|
NM_005334.3(HCFC1):c.790G>A (p.Gly264Arg)
|
|
|
NM_005334.3(HCFC1):c.80G>A (p.Gly27Asp)
|
|
|
NM_005334.3(HCFC1):c.932T>C (p.Met311Thr)
|
|
|
NM_005334.3(HCFC1):c.939A>G (p.Thr313=)
|
|
|
NM_005431.2(XRCC2):c.378_381del (p.Leu126fs)
|
rs763401560
|
|
NM_005431.2(XRCC2):c.698A>T (p.Gln233Leu)
|
rs946075316
|
|
NM_005431.2(XRCC2):c.756_758del (p.Gln252_Phe253delinsHis)
|
|
|
NM_005431.2(XRCC2):c.794T>C (p.Leu265Ser)
|
rs771671971
|
|
NM_005475.3(SH2B3):c.1325A>C (p.Gln442Pro)
|
|
|
NM_005475.3(SH2B3):c.89G>A (p.Cys30Tyr)
|
|
|
NM_005634.3(SOX3):c.735_737dup (p.Ala248dup)
|
rs398124211
|
|
NM_006296.7(VRK2):c.*102_*105dup
|
rs759217526
|
|
NM_006363.5(SEC23B):c.-283C>T
|
rs886056522
|
|
NM_006363.5(SEC23B):c.-301G>A
|
rs886056521
|
|
NM_006363.5(SEC23B):c.-94C>G
|
rs886056523
|
|
NM_006363.6(SEC23B):c.*178C>T
|
rs2060486772
|
|
NM_006363.6(SEC23B):c.*292T>G
|
rs886056526
|
|
NM_006363.6(SEC23B):c.*308A>G
|
rs2060487651
|
|
NM_006363.6(SEC23B):c.*493A>G
|
rs886056527
|
|
NM_006363.6(SEC23B):c.-14-1G>A
|
rs967988810
|
|
NM_006363.6(SEC23B):c.-8T>C
|
rs766083236
|
|
NM_006363.6(SEC23B):c.1027A>G (p.Asn343Asp)
|
|
|
NM_006363.6(SEC23B):c.1043A>G (p.Asp348Gly)
|
rs2060144762
|
|
NM_006363.6(SEC23B):c.1054T>C (p.Cys352Arg)
|
|
|
NM_006363.6(SEC23B):c.1115A>G (p.Tyr372Cys)
|
|
|
NM_006363.6(SEC23B):c.1115A>T (p.Tyr372Phe)
|
|
|
NM_006363.6(SEC23B):c.1142C>T (p.Thr381Ile)
|
|
|
NM_006363.6(SEC23B):c.1201C>T (p.Arg401Ter)
|
rs1403456625
|
|
NM_006363.6(SEC23B):c.1217C>T (p.Ala406Val)
|
|
|
NM_006363.6(SEC23B):c.1244A>G (p.Glu415Gly)
|
|
|
NM_006363.6(SEC23B):c.1415C>T (p.Pro472Leu)
|
rs752548887
|
|
NM_006363.6(SEC23B):c.146C>T (p.Pro49Leu)
|
|
|
NM_006363.6(SEC23B):c.1490G>T (p.Arg497Leu)
|
|
|
NM_006363.6(SEC23B):c.1504G>A (p.Ala502Thr)
|
|
|
NM_006363.6(SEC23B):c.1512-16A>G
|
|
|
NM_006363.6(SEC23B):c.1555T>C (p.Phe519Leu)
|
|
|
NM_006363.6(SEC23B):c.1580T>C (p.Leu527Ser)
|
|
|
NM_006363.6(SEC23B):c.1607C>A (p.Ala536Glu)
|
rs535355543
|
|
NM_006363.6(SEC23B):c.1637G>T (p.Arg546Leu)
|
|
|
NM_006363.6(SEC23B):c.164A>C (p.Gln55Pro)
|
|
|
NM_006363.6(SEC23B):c.1665+4A>G
|
|
|
NM_006363.6(SEC23B):c.1666-3T>C
|
|
|
NM_006363.6(SEC23B):c.1730C>T (p.Ser577Phe)
|
|
|
NM_006363.6(SEC23B):c.1857C>G (p.Ile619Met)
|
|
|
NM_006363.6(SEC23B):c.2011A>G (p.Lys671Glu)
|
|
|
NM_006363.6(SEC23B):c.202G>A (p.Ala68Thr)
|
rs2059977778
|
|
NM_006363.6(SEC23B):c.208C>T (p.Leu70Phe)
|
|
|
NM_006363.6(SEC23B):c.211A>C (p.Asn71His)
|
rs2059977897
|
|
NM_006363.6(SEC23B):c.2242G>A (p.Asp748Asn)
|
rs2122200225
|
|
NM_006363.6(SEC23B):c.2242G>C (p.Asp748His)
|
|
|
NM_006363.6(SEC23B):c.2244T>C (p.Asp748=)
|
rs748290215
|
|
NM_006363.6(SEC23B):c.2294G>C (p.Ser765Thr)
|
|
|
NM_006363.6(SEC23B):c.251C>T (p.Ala84Val)
|
|
|
NM_006363.6(SEC23B):c.338A>C (p.Gln113Pro)
|
|
|
NM_006363.6(SEC23B):c.436G>A (p.Ala146Thr)
|
rs2060116077
|
|
NM_006363.6(SEC23B):c.501C>G (p.Ile167Met)
|
|
|
NM_006363.6(SEC23B):c.546A>T (p.Gly182=)
|
rs1347919581
|
|
NM_006363.6(SEC23B):c.5C>T (p.Ala2Val)
|
|
|
NM_006363.6(SEC23B):c.614G>C (p.Gly205Ala)
|
|
|
NM_006363.6(SEC23B):c.631A>G (p.Met211Val)
|
|
|
NM_006363.6(SEC23B):c.708C>A (p.His236Gln)
|
rs748683327
|
|
NM_006363.6(SEC23B):c.712A>G (p.Ile238Val)
|
|
|
NM_006363.6(SEC23B):c.716A>G (p.Asp239Gly)
|
rs761034212
|
|
NM_006363.6(SEC23B):c.757C>T (p.Pro253Ser)
|
|
|
NM_006363.6(SEC23B):c.791G>A (p.Arg264Gln)
|
rs148239360
|
|
NM_006363.6(SEC23B):c.820G>A (p.Val274Ile)
|
rs747388303
|
|
NM_006363.6(SEC23B):c.853G>A (p.Gly285Arg)
|
|
|
NM_006363.6(SEC23B):c.85C>T (p.Leu29=)
|
rs886056525
|
|
NM_006363.6(SEC23B):c.902G>A (p.Gly301Asp)
|
|
|
NM_006363.6(SEC23B):c.985G>C (p.Ala329Pro)
|
|
|
NM_006516.4(SLC2A1):c.1006C>G (p.Leu336Val)
|
rs755946345
|
|
NM_006516.4(SLC2A1):c.1012C>T (p.Leu338Phe)
|
|
|
NM_006516.4(SLC2A1):c.1084C>T (p.Pro362Ser)
|
|
|
NM_006516.4(SLC2A1):c.1109T>C (p.Val370Ala)
|
rs796053259
|
|
NM_006516.4(SLC2A1):c.1126G>A (p.Val376Met)
|
rs796053260
|
|
NM_006516.4(SLC2A1):c.1130C>A (p.Ala377Asp)
|
|
|
NM_006516.4(SLC2A1):c.1192G>A (p.Gly398Ser)
|
rs1027810691
|
|
NM_006516.4(SLC2A1):c.121G>A (p.Glu41Lys)
|
rs769722007
|
|
NM_006516.4(SLC2A1):c.1223G>A (p.Gly408Asp)
|
rs1570590876
|
|
NM_006516.4(SLC2A1):c.1260G>A (p.Met420Ile)
|
rs2124446216
|
|
NM_006516.4(SLC2A1):c.1286G>C (p.Cys429Ser)
|
rs796053274
|
|
NM_006516.4(SLC2A1):c.1342A>G (p.Thr448Ala)
|
|
|
NM_006516.4(SLC2A1):c.1348T>A (p.Phe450Ile)
|
rs1216296247
|
|
NM_006516.4(SLC2A1):c.1408G>A (p.Gly470Arg)
|
rs572648977
|
|
NM_006516.4(SLC2A1):c.1408G>T (p.Gly470Trp)
|
rs572648977
|
|
NM_006516.4(SLC2A1):c.1450C>T (p.His484Tyr)
|
rs2124445324
|
|
NM_006516.4(SLC2A1):c.158G>T (p.Gly53Val)
|
rs796053246
|
|
NM_006516.4(SLC2A1):c.250G>A (p.Gly84Ser)
|
|
|
NM_006516.4(SLC2A1):c.26C>T (p.Thr9Met)
|
rs1570601100
|
|
NM_006516.4(SLC2A1):c.275G>A (p.Arg92Gln)
|
|
|
NM_006516.4(SLC2A1):c.313G>C (p.Val105Leu)
|
rs577667739
|
|
NM_006516.4(SLC2A1):c.439G>A (p.Val147Met)
|
rs760130033
|
|
NM_006516.4(SLC2A1):c.484C>G (p.Leu162Val)
|
|
|
NM_006516.4(SLC2A1):c.523G>A (p.Gly175Ser)
|
rs1085308009
|
|
NM_006516.4(SLC2A1):c.554T>C (p.Leu185Pro)
|
rs1570592942
|
|
NM_006516.4(SLC2A1):c.586C>G (p.Pro196Ala)
|
rs2124449385
|
|
NM_006516.4(SLC2A1):c.587C>T (p.Pro196Leu)
|
rs771352226
|
|
NM_006516.4(SLC2A1):c.630T>A (p.Ser210Arg)
|
rs2124449313
|
|
NM_006516.4(SLC2A1):c.646A>G (p.Ile216Val)
|
rs2124449273
|
|
NM_006516.4(SLC2A1):c.73C>A (p.Gln25Lys)
|
rs1165759782
|
|
NM_006516.4(SLC2A1):c.757C>T (p.Arg253Trp)
|
rs1451575059
|
|
NM_006516.4(SLC2A1):c.75G>A (p.Gln25=)
|
rs1557651193
|
|
NM_006516.4(SLC2A1):c.763AAG[1] (p.Lys256del)
|
rs1557645931
|
|
NM_006516.4(SLC2A1):c.766_767delinsGT (p.Lys256Val)
|
rs80359822
|
|
NM_006516.4(SLC2A1):c.791G>A (p.Arg264His)
|
rs758919432
|
|
NM_006516.4(SLC2A1):c.806G>A (p.Arg269His)
|
rs1411827478
|
|
NM_006516.4(SLC2A1):c.902C>G (p.Ala301Gly)
|
rs1425773776
|
|
NM_006516.4(SLC2A1):c.945C>G (p.Ile315Met)
|
rs780528770
|
|
NM_006563.5(KLF1):c.1016T>C (p.Phe339Ser)
|
rs1970419176
|
|
NM_006563.5(KLF1):c.1036C>T (p.Arg346Cys)
|
rs1232742005
|
|
NM_006563.5(KLF1):c.587C>T (p.Pro196Leu)
|
|
|
NM_006563.5(KLF1):c.676G>A (p.Ala226Thr)
|
rs1970432271
|
|
NM_006657.3(FTCD):c.*113C>T
|
rs886057173
|
|
NM_006657.3(FTCD):c.*127C>A
|
rs538433909
|
|
NM_006657.3(FTCD):c.*67C>T
|
rs139773262
|
|
NM_006947.4(SRP72):c.*1227_*1232del
|
rs886059502
|
|
NM_006947.4(SRP72):c.*125GT[1]
|
rs886059498
|
|
NM_006947.4(SRP72):c.*142A>G
|
rs878964615
|
|
NM_006947.4(SRP72):c.*1769T>G
|
rs886059504
|
|
NM_006947.4(SRP72):c.*407T>C
|
rs541665813
|
|
NM_006947.4(SRP72):c.*606AT[10]
|
rs201131530
|
|
NM_006947.4(SRP72):c.*633T>C
|
rs867120149
|
|
NM_006947.4(SRP72):c.*637TA[11]
|
rs35852754
|
|
NM_006947.4(SRP72):c.*637TA[7]
|
rs35852754
|
|
NM_006947.4(SRP72):c.*637TA[9]
|
rs35852754
|
|
NM_006947.4(SRP72):c.-10C>T
|
|
|
NM_006947.4(SRP72):c.1843G>T (p.Ala615Ser)
|
|
|
NM_006947.4(SRP72):c.1900G>C (p.Val634Leu)
|
|
|
NM_006947.4(SRP72):c.1938C>G (p.His646Gln)
|
rs1721270142
|
|
NM_006947.4(SRP72):c.308G>A (p.Ser103Asn)
|
|
|
NM_006947.4(SRP72):c.50A>G (p.Glu17Gly)
|
|
|
NM_006947.4(SRP72):c.574C>G (p.Leu192Val)
|
rs772592244
|
|
NM_006947.4(SRP72):c.979T>C (p.Ser327Pro)
|
rs1040868057
|
|
NM_006996.3(SLC19A2):c.*1349T>C
|
rs1657943320
|
|
NM_006996.3(SLC19A2):c.*1493G>A
|
rs886045524
|
|
NM_006996.3(SLC19A2):c.*1523A>G
|
rs886045523
|
|
NM_006996.3(SLC19A2):c.*1539CTGT[1]
|
rs886045522
|
|
NM_006996.3(SLC19A2):c.*1543C>G
|
rs1657937297
|
|
NM_006996.3(SLC19A2):c.*1588T>G
|
rs886045521
|
|
NM_006996.3(SLC19A2):c.*174C>G
|
rs1657969443
|
|
NM_006996.3(SLC19A2):c.*1901AATA[1]
|
rs745730912
|
|
NM_006996.3(SLC19A2):c.*255A>T
|
rs562829928
|
|
NM_006996.3(SLC19A2):c.*390T>G
|
rs886045528
|
|
NM_006996.3(SLC19A2):c.*440T>C
|
rs1657963505
|
|
NM_006996.3(SLC19A2):c.*712dup
|
rs886045526
|
|
NM_006996.3(SLC19A2):c.*898_*899del
|
rs886045525
|
|
NM_006996.3(SLC19A2):c.-103G>A
|
rs886045532
|
|
NM_006996.3(SLC19A2):c.-163G>T
|
rs886045533
|
|
NM_006996.3(SLC19A2):c.1312C>T (p.Leu438Phe)
|
|
|
NM_006996.3(SLC19A2):c.1327G>A (p.Val443Ile)
|
rs754002628
|
|
NM_006996.3(SLC19A2):c.180G>T (p.Pro60=)
|
rs1198335067
|
|
NM_006996.3(SLC19A2):c.200G>C (p.Arg67Thr)
|
rs369937650
|
|
NM_006996.3(SLC19A2):c.205-25_205-24dup
|
rs755410874
|
|
NM_006996.3(SLC19A2):c.205-25dup
|
rs755410874
|
|
NM_006996.3(SLC19A2):c.287G>A (p.Arg96His)
|
rs558617037
|
|
NM_006996.3(SLC19A2):c.30GGC[5] (p.Ala16del)
|
|
|
NM_006996.3(SLC19A2):c.518C>G (p.Ser173Cys)
|
rs758126745
|
|
NM_006996.3(SLC19A2):c.581C>T (p.Ser194Phe)
|
|
|
NM_006996.3(SLC19A2):c.808-1G>A
|
rs1557889336
|
|
NM_006996.3(SLC19A2):c.845T>C (p.Leu282Pro)
|
rs886045529
|
|
NM_007294.4(BRCA1):c.1662G>C (p.Glu554Asp)
|
rs876659028
|
|
NM_007294.4(BRCA1):c.1886G>T (p.Arg629Ile)
|
rs876660144
|
|
NM_007294.4(BRCA1):c.2663A>C (p.His888Pro)
|
rs876658843
|
|
NM_007294.4(BRCA1):c.3080G>C (p.Ser1027Thr)
|
rs80357386
|
|
NM_007294.4(BRCA1):c.3104T>C (p.Val1035Ala)
|
rs1555588389
|
|
NM_007294.4(BRCA1):c.3403C>G (p.Gln1135Glu)
|
rs80357136
|
|
NM_007294.4(BRCA1):c.3424G>C (p.Ala1142Pro)
|
rs80357101
|
|
NM_007294.4(BRCA1):c.3555G>T (p.Glu1185Asp)
|
rs587779368
|
|
NM_007294.4(BRCA1):c.3769GAG[1] (p.Glu1258del)
|
rs1057517536
|
|
NM_007294.4(BRCA1):c.4001G>A (p.Gly1334Asp)
|
rs2053486938
|
|
NM_007294.4(BRCA1):c.4096+3A>G
|
rs80358015
|
|
NM_007294.4(BRCA1):c.4333C>A (p.Pro1445Thr)
|
rs876660684
|
|
NM_007294.4(BRCA1):c.442-2A>G
|
rs80358155
|
|
NM_007294.4(BRCA1):c.4654T>C (p.Tyr1552His)
|
rs1265352633
|
|
NM_007294.4(BRCA1):c.4664G>A (p.Arg1555Lys)
|
rs786202165
|
|
NM_007294.4(BRCA1):c.502A>G (p.Lys168Glu)
|
rs886040263
|
|
NM_007294.4(BRCA1):c.5056C>T (p.His1686Tyr)
|
rs1555579648
|
|
NM_007294.4(BRCA1):c.5108A>G (p.Tyr1703Cys)
|
rs876660071
|
|
NM_007294.4(BRCA1):c.5341G>A (p.Glu1781Lys)
|
rs397509268
|
|
NM_007294.4(BRCA1):c.5470A>G (p.Ile1824Val)
|
rs587782026
|
|
NM_007294.4(BRCA1):c.851A>G (p.Gln284Arg)
|
rs80357039
|
|
NM_007294.4(BRCA1):c.922A>G (p.Ser308Gly)
|
rs55767801
|
|
NM_014729.3(TOX):c.904_905delinsGG (p.Leu302Gly)
|
|
|
NM_015506.3(MMACHC):c.*5C>G
|
rs557994288
|
|
NM_015506.3(MMACHC):c.137C>G (p.Pro46Arg)
|
rs2149323209
|
|
NM_015506.3(MMACHC):c.140C>A (p.Thr47Asn)
|
|
|
NM_015506.3(MMACHC):c.140C>T (p.Thr47Ile)
|
|
|
NM_015506.3(MMACHC):c.145G>A (p.Ala49Thr)
|
|
|
NM_015506.3(MMACHC):c.145G>C (p.Ala49Pro)
|
rs775502093
|
|
NM_015506.3(MMACHC):c.162C>G (p.Ser54Arg)
|
rs750127773
|
|
NM_015506.3(MMACHC):c.164C>T (p.Thr55Met)
|
|
|
NM_015506.3(MMACHC):c.182G>A (p.Arg61Gln)
|
rs201777449
|
|
NM_015506.3(MMACHC):c.222G>T (p.Met74Ile)
|
rs772225967
|
|
NM_015506.3(MMACHC):c.245G>A (p.Cys82Tyr)
|
|
|
NM_015506.3(MMACHC):c.254A>C (p.Tyr85Ser)
|
|
|
NM_015506.3(MMACHC):c.265C>T (p.Arg89Cys)
|
|
|
NM_015506.3(MMACHC):c.266G>A (p.Arg89His)
|
|
|
NM_015506.3(MMACHC):c.276+5G>A
|
|
|
NM_015506.3(MMACHC):c.277-8_277-3dup
|
rs756072947
|
|
NM_015506.3(MMACHC):c.286G>A (p.Glu96Lys)
|
|
|
NM_015506.3(MMACHC):c.311A>T (p.Asp104Val)
|
rs1553162829
|
|
NM_015506.3(MMACHC):c.313_315del (p.Tyr105del)
|
rs1557607881
|
|
NM_015506.3(MMACHC):c.319G>A (p.Val107Met)
|
rs758730415
|
|
NM_015506.3(MMACHC):c.327_329delinsATTGCTGACTAC (p.Asn110delinsLeuLeuThrThr)
|
rs2149323547
|
|
NM_015506.3(MMACHC):c.343A>G (p.Ile115Val)
|
|
|
NM_015506.3(MMACHC):c.354_365del (p.Gln118_Ala121del)
|
rs1643666069
|
|
NM_015506.3(MMACHC):c.356C>G (p.Thr119Arg)
|
rs1006520706
|
|
NM_015506.3(MMACHC):c.358G>T (p.Ala120Ser)
|
|
|
NM_015506.3(MMACHC):c.373_381del (p.Gly125_Ala127del)
|
rs1553162848
|
|
NM_015506.3(MMACHC):c.385T>C (p.Tyr129His)
|
|
|
NM_015506.3(MMACHC):c.392_394del (p.Gln131del)
|
rs779234540
|
|
NM_015506.3(MMACHC):c.393A>C (p.Gln131His)
|
rs2149323606
|
|
NM_015506.3(MMACHC):c.395G>A (p.Arg132Gln)
|
rs369335868
|
|
NM_015506.3(MMACHC):c.395_397del (p.Arg132del)
|
rs1455190457
|
|
NM_015506.3(MMACHC):c.433A>G (p.Ile145Val)
|
rs74365027
|
|
NM_015506.3(MMACHC):c.436_450del (p.Ser146_Ile150del)
|
rs747550590
|
|
NM_015506.3(MMACHC):c.445_446del (p.Cys149fs)
|
rs796051999
|
|
NM_015506.3(MMACHC):c.460T>C (p.Phe154Leu)
|
|
|
NM_015506.3(MMACHC):c.467G>A (p.Gly156Asp)
|
rs1553162910
|
|
NM_015506.3(MMACHC):c.488T>C (p.Val163Ala)
|
rs1570832855
|
|
NM_015506.3(MMACHC):c.490G>A (p.Val164Met)
|
rs1417321919
|
|
NM_015506.3(MMACHC):c.491TGC[2] (p.Leu166del)
|
rs1249948465
|
|
NM_015506.3(MMACHC):c.502G>A (p.Gly168Arg)
|
|
|
NM_015506.3(MMACHC):c.503G>A (p.Gly168Glu)
|
|
|
NM_015506.3(MMACHC):c.506T>C (p.Ile169Thr)
|
rs1643678565
|
|
NM_015506.3(MMACHC):c.52C>T (p.Pro18Ser)
|
|
|
NM_015506.3(MMACHC):c.544T>C (p.Cys182Arg)
|
rs955468279
|
|
NM_015506.3(MMACHC):c.545G>A (p.Cys182Tyr)
|
rs372010149
|
|
NM_015506.3(MMACHC):c.547G>A (p.Val183Ile)
|
|
|
NM_015506.3(MMACHC):c.553A>C (p.Thr185Pro)
|
|
|
NM_015506.3(MMACHC):c.561_572del (p.Asp188_Ala191del)
|
rs1553162937
|
|
NM_015506.3(MMACHC):c.562G>A (p.Asp188Asn)
|
rs748747319
|
|
NM_015506.3(MMACHC):c.572C>T (p.Ala191Val)
|
rs375442063
|
|
NM_015506.3(MMACHC):c.590A>G (p.Asn197Ser)
|
|
|
NM_015506.3(MMACHC):c.598T>C (p.Trp200Arg)
|
|
|
NM_015506.3(MMACHC):c.602G>A (p.Arg201His)
|
|
|
NM_015506.3(MMACHC):c.617G>C (p.Arg206Pro)
|
rs371753672
|
|
NM_015506.3(MMACHC):c.626T>A (p.Val209Glu)
|
|
|
NM_015506.3(MMACHC):c.631C>A (p.Pro211Thr)
|
|
|
NM_015506.3(MMACHC):c.631C>T (p.Pro211Ser)
|
rs192924272
|
|
NM_015506.3(MMACHC):c.643T>C (p.Tyr215His)
|
rs755843695
|
|
NM_015506.3(MMACHC):c.649G>A (p.Glu217Lys)
|
rs483352740
|
|
NM_015506.3(MMACHC):c.650A>G (p.Glu217Gly)
|
rs199641732
|
|
NM_015506.3(MMACHC):c.701T>C (p.Leu234Ser)
|
|
|
NM_015506.3(MMACHC):c.701del (p.Leu234fs)
|
rs767339897
|
|
NM_015506.3(MMACHC):c.704del (p.Gly235fs)
|
|
|
NM_015506.3(MMACHC):c.712C>T (p.Gln238Ter)
|
|
|
NM_015506.3(MMACHC):c.717_728del (p.Glu241_Ser244del)
|
|
|
NM_015506.3(MMACHC):c.720dup (p.Glu241fs)
|
|
|
NM_015506.3(MMACHC):c.728del (p.Pro243fs)
|
rs1409915649
|
|
NM_015506.3(MMACHC):c.743C>G (p.Pro248Arg)
|
rs564280688
|
|
NM_015506.3(MMACHC):c.743C>T (p.Pro248Leu)
|
|
|
NM_015506.3(MMACHC):c.745dup (p.Asp249fs)
|
rs1553162993
|
|
NM_015506.3(MMACHC):c.754T>C (p.Phe252Leu)
|
|
|
NM_015506.3(MMACHC):c.763C>G (p.Pro255Ala)
|
rs533256855
|
|
NM_015506.3(MMACHC):c.763C>T (p.Pro255Ser)
|
rs533256855
|
|
NM_015506.3(MMACHC):c.766_771del (p.Ala256_Pro257del)
|
rs796064513
|
|
NM_015506.3(MMACHC):c.771dup (p.Lys258fs)
|
rs763886783
|
|
NM_015506.3(MMACHC):c.792_818del (p.Ser264_Pro272del)
|
rs753855245
|
|
NM_015506.3(MMACHC):c.795_*18delinsGTATGGTA (p.Ala266fs)
|
rs1643689610
|
|
NM_015506.3(MMACHC):c.799C>G (p.Arg267Gly)
|
rs34258482
|
|
NM_015506.3(MMACHC):c.799dup (p.Arg267fs)
|
rs1553163005
|
|
NM_015506.3(MMACHC):c.82-11_82-8del
|
rs751236442
|
|
NM_015506.3(MMACHC):c.829C>T (p.Pro277Ser)
|
|
|
NM_015506.3(MMACHC):c.839del (p.Pro280fs)
|
rs1553163017
|
|
NM_015506.3(MMACHC):c.844C>A (p.Pro282Thr)
|
rs1553163019
|
|
NM_015506.3(MMACHC):c.847T>C (p.Ter283Arg)
|
|
|
NM_015506.3(MMACHC):c.848G>C (p.Ter283Ser)
|
rs201025783
|
|
NM_015506.3(MMACHC):c.848G>T (p.Ter283Leu)
|
rs201025783
|
|
NM_015506.3(MMACHC):c.848_*2del (p.Ter283PheextTer?)
|
rs1553163021
|
|
NM_015506.3(MMACHC):c.848del (p.Ter283TyrextTer?)
|
rs1553163024
|
|
NM_015506.3(MMACHC):c.849del (p.Ter283CysextTer?)
|
rs1553163027
|
|
NM_015702.3(MMADHC):c.-136G>C
|
rs1682898571
|
|
NM_015702.3(MMADHC):c.-52-3C>G
|
rs886054922
|
|
NM_015702.3(MMADHC):c.-62G>A
|
rs886054924
|
|
NM_015702.3(MMADHC):c.10-3T>C
|
rs886054921
|
|
NM_015702.3(MMADHC):c.113G>T (p.Gly38Val)
|
|
|
NM_015702.3(MMADHC):c.136G>C (p.Ala46Pro)
|
rs749521854
|
|
NM_015702.3(MMADHC):c.149A>G (p.Asp50Gly)
|
|
|
NM_015702.3(MMADHC):c.166G>A (p.Val56Met)
|
rs1682767724
|
|
NM_015702.3(MMADHC):c.172C>G (p.Pro58Ala)
|
|
|
NM_015702.3(MMADHC):c.184A>G (p.Met62Val)
|
|
|
NM_015702.3(MMADHC):c.196G>A (p.Gly66Arg)
|
rs1334273037
|
|
NM_015702.3(MMADHC):c.245G>A (p.Cys82Tyr)
|
|
|
NM_015702.3(MMADHC):c.299C>T (p.Pro100Leu)
|
|
|
NM_015702.3(MMADHC):c.311C>T (p.Ala104Val)
|
rs533388008
|
|
NM_015702.3(MMADHC):c.329A>G (p.Glu110Gly)
|
|
|
NM_015702.3(MMADHC):c.362A>G (p.Asn121Ser)
|
|
|
NM_015702.3(MMADHC):c.373-5C>A
|
|
|
NM_015702.3(MMADHC):c.440A>T (p.Glu147Val)
|
rs768142805
|
|
NM_015702.3(MMADHC):c.461C>G (p.Pro154Arg)
|
rs1226772166
|
|
NM_015702.3(MMADHC):c.481T>A (p.Phe161Ile)
|
|
|
NM_015702.3(MMADHC):c.562G>A (p.Val188Ile)
|
|
|
NM_015702.3(MMADHC):c.572AAG[1] (p.Glu192del)
|
|
|
NM_015702.3(MMADHC):c.607A>G (p.Lys203Glu)
|
rs1553453961
|
|
NM_015702.3(MMADHC):c.609+6T>C
|
rs1682704400
|
|
NM_015702.3(MMADHC):c.699T>C (p.Phe233=)
|
rs1682618008
|
|
NM_015702.3(MMADHC):c.702dup (p.Gly235fs)
|
rs1682617973
|
|
NM_015702.3(MMADHC):c.724C>G (p.Leu242Val)
|
|
|
NM_015702.3(MMADHC):c.735T>G (p.Thr245=)
|
rs530553915
|
|
NM_015702.3(MMADHC):c.737A>G (p.Asp246Gly)
|
rs1408840913
|
|
NM_015702.3(MMADHC):c.73G>C (p.Val25Leu)
|
rs549522925
|
|
NM_015702.3(MMADHC):c.73G>T (p.Val25Phe)
|
rs549522925
|
|
NM_015702.3(MMADHC):c.759A>T (p.Gly253=)
|
rs886054920
|
|
NM_015702.3(MMADHC):c.764C>G (p.Ser255Cys)
|
rs773493767
|
|
NM_015702.3(MMADHC):c.764_765del (p.Ser255fs)
|
rs2105041468
|
|
NM_015702.3(MMADHC):c.766G>C (p.Val256Leu)
|
|
|
NM_015702.3(MMADHC):c.787A>T (p.Lys263Ter)
|
|
|
NM_015702.3(MMADHC):c.808T>C (p.Trp270Arg)
|
rs2105041421
|
|
NM_015702.3(MMADHC):c.835A>G (p.Ile279Val)
|
|
|
NM_015702.3(MMADHC):c.857A>C (p.Asp286Ala)
|
|
|
NM_015702.3(MMADHC):c.869T>G (p.Met290Arg)
|
rs1401528755
|
|
NM_015937.6(PIGT):c.1072G>A (p.Val358Met)
|
rs370184382
|
|
NM_015937.6(PIGT):c.602T>C (p.Leu201Pro)
|
rs1555876854
|
|
NM_016038.4(SBDS):c.40A>G (p.Asn14Asp)
|
|
|
NM_016038.4(SBDS):c.443A>G (p.Lys148Arg)
|
|
|
NM_016123.4(IRAK4):c.86A>C (p.Gln29Pro)
|
|
|
NM_016417.3(GLRX5):c.322A>G (p.Thr108Ala)
|
rs1891515868
|
|
NM_017875.4(SLC25A38):c.*548G>A
|
rs531997173
|
|
NM_017875.4(SLC25A38):c.*718G>A
|
rs2041842608
|
|
NM_017875.4(SLC25A38):c.-15C>A
|
rs1373209338
|
|
NM_017875.4(SLC25A38):c.-219T>C
|
rs886058469
|
|
NM_017875.4(SLC25A38):c.-39G>C
|
rs375182491
|
|
NM_017875.4(SLC25A38):c.400C>T (p.Arg134Cys)
|
rs1293528130
|
|
NM_017875.4(SLC25A38):c.528C>A (p.Gly176=)
|
rs2041775190
|
|
NM_017875.4(SLC25A38):c.570C>A (p.Pro190=)
|
rs886058471
|
|
NM_017875.4(SLC25A38):c.584A>G (p.Tyr195Cys)
|
|
|
NM_017875.4(SLC25A38):c.625G>A (p.Asp209Asn)
|
rs146864395
|
|
NM_017875.4(SLC25A38):c.803dup (p.Arg269fs)
|
|
|
NM_017875.4(SLC25A38):c.85A>G (p.Lys29Glu)
|
|
|
NM_018062.4(FANCL):c.*128G>A
|
rs781556579
|
|
NM_018062.4(FANCL):c.*165A>C
|
rs866675905
|
|
NM_018062.4(FANCL):c.*165A>G
|
rs866675905
|
|
NM_018062.4(FANCL):c.*281C>G
|
rs951671744
|
|
NM_018062.4(FANCL):c.*434A>G
|
rs1395685917
|
|
NM_018062.4(FANCL):c.*447_*450del
|
rs748896681
|
|
NM_018062.4(FANCL):c.*89C>T
|
rs1684780470
|
|
NM_018062.4(FANCL):c.1021T>A (p.Trp341Arg)
|
rs1558727863
|
|
NM_018062.4(FANCL):c.1033CTA[1] (p.Leu346del)
|
|
|
NM_018062.4(FANCL):c.1042A>G (p.Ser348Gly)
|
|
|
NM_018062.4(FANCL):c.1051_1052del (p.Ser351fs)
|
rs750871999
|
|
NM_018062.4(FANCL):c.105C>A (p.Asp35Glu)
|
|
|
NM_018062.4(FANCL):c.1060A>G (p.Ile354Val)
|
|
|
NM_018062.4(FANCL):c.1078C>A (p.Pro360Thr)
|
rs748875030
|
|
NM_018062.4(FANCL):c.1078C>G (p.Pro360Ala)
|
rs748875030
|
|
NM_018062.4(FANCL):c.1093-13T>A
|
|
|
NM_018062.4(FANCL):c.1096A>G (p.Ile366Val)
|
|
|
NM_018062.4(FANCL):c.1109T>C (p.Met370Thr)
|
rs1684813547
|
|
NM_018062.4(FANCL):c.1118G>C (p.Arg373Thr)
|
|
|
NM_018062.4(FANCL):c.1123C>G (p.His375Asp)
|
|
|
NM_018062.4(FANCL):c.121G>A (p.Val41Met)
|
|
|
NM_018062.4(FANCL):c.134A>T (p.Asp45Val)
|
rs1573820532
|
|
NM_018062.4(FANCL):c.136T>A (p.Leu46Ile)
|
rs781357185
|
|
NM_018062.4(FANCL):c.136T>G (p.Leu46Val)
|
|
|
NM_018062.4(FANCL):c.147_148delinsTT (p.Lys49_Asn50delinsAsnTyr)
|
rs1558825558
|
|
NM_018062.4(FANCL):c.148delinsTT (p.Asn50fs)
|
|
|
NM_018062.4(FANCL):c.155G>A (p.Arg52Lys)
|
rs1693636944
|
|
NM_018062.4(FANCL):c.156-3T>G
|
|
|
NM_018062.4(FANCL):c.159A>C (p.Leu53Phe)
|
|
|
NM_018062.4(FANCL):c.163T>A (p.Cys55Ser)
|
|
|
NM_018062.4(FANCL):c.167G>C (p.Ser56Thr)
|
rs778972805
|
|
NM_018062.4(FANCL):c.181A>G (p.Thr61Ala)
|
|
|
NM_018062.4(FANCL):c.191G>A (p.Ser64Asn)
|
rs1693400339
|
|
NM_018062.4(FANCL):c.200A>G (p.His67Arg)
|
|
|
NM_018062.4(FANCL):c.203G>A (p.Arg68Gln)
|
rs143819820
|
|
NM_018062.4(FANCL):c.20G>A (p.Ser7Asn)
|
rs376224867
|
|
NM_018062.4(FANCL):c.20G>C (p.Ser7Thr)
|
rs376224867
|
|
NM_018062.4(FANCL):c.20G>T (p.Ser7Ile)
|
rs376224867
|
|
NM_018062.4(FANCL):c.21C>G (p.Ser7Arg)
|
rs200559825
|
|
NM_018062.4(FANCL):c.224A>G (p.Gln75Arg)
|
rs754363760
|
|
NM_018062.4(FANCL):c.226C>T (p.His76Tyr)
|
rs1693047999
|
|
NM_018062.4(FANCL):c.229T>C (p.Ser77Pro)
|
|
|
NM_018062.4(FANCL):c.22C>A (p.Leu8Met)
|
rs764378405
|
|
NM_018062.4(FANCL):c.233C>G (p.Pro78Arg)
|
|
|
NM_018062.4(FANCL):c.241A>G (p.Met81Val)
|
rs1440897827
|
|
NM_018062.4(FANCL):c.244A>C (p.Ser82Arg)
|
|
|
NM_018062.4(FANCL):c.252G>A (p.Met84Ile)
|
|
|
NM_018062.4(FANCL):c.259T>A (p.Leu87Met)
|
|
|
NM_018062.4(FANCL):c.267G>T (p.Met89Ile)
|
rs1378650753
|
|
NM_018062.4(FANCL):c.274G>A (p.Glu92Lys)
|
rs2103754665
|
|
NM_018062.4(FANCL):c.27G>C (p.Leu9Phe)
|
rs370409722
|
|
NM_018062.4(FANCL):c.27G>T (p.Leu9Phe)
|
|
|
NM_018062.4(FANCL):c.280_281delinsTT (p.Ala94Phe)
|
|
|
NM_018062.4(FANCL):c.287A>G (p.Lys96Arg)
|
|
|
NM_018062.4(FANCL):c.295C>A (p.Gln99Lys)
|
rs1196510455
|
|
NM_018062.4(FANCL):c.308C>T (p.Ala103Val)
|
rs746623168
|
|
NM_018062.4(FANCL):c.319C>G (p.Pro107Ala)
|
rs754028115
|
|
NM_018062.4(FANCL):c.339C>A (p.Ser113Arg)
|
rs2103752897
|
|
NM_018062.4(FANCL):c.350A>C (p.Glu117Ala)
|
rs2103752683
|
|
NM_018062.4(FANCL):c.35G>A (p.Cys12Tyr)
|
rs2104082854
|
|
NM_018062.4(FANCL):c.35G>C (p.Cys12Ser)
|
|
|
NM_018062.4(FANCL):c.361C>T (p.Leu121Phe)
|
|
|
NM_018062.4(FANCL):c.365G>T (p.Gly122Val)
|
rs2103752402
|
|
NM_018062.4(FANCL):c.374+3A>G
|
rs999309828
|
|
NM_018062.4(FANCL):c.375-2033C>G
|
rs1690571577
|
|
NM_018062.4(FANCL):c.378T>A (p.Leu126=)
|
rs746200741
|
|
NM_018062.4(FANCL):c.385G>T (p.Ala129Ser)
|
|
|
NM_018062.4(FANCL):c.388G>T (p.Asp130Tyr)
|
rs1690340999
|
|
NM_018062.4(FANCL):c.408C>G (p.Ile136Met)
|
rs1389670408
|
|
NM_018062.4(FANCL):c.428C>G (p.Ala143Gly)
|
rs756000370
|
|
NM_018062.4(FANCL):c.430T>A (p.Ser144Thr)
|
rs2105147558
|
|
NM_018062.4(FANCL):c.439G>A (p.Glu147Lys)
|
|
|
NM_018062.4(FANCL):c.44T>A (p.Leu15His)
|
rs1694519859
|
|
NM_018062.4(FANCL):c.454C>T (p.Leu152Phe)
|
|
|
NM_018062.4(FANCL):c.46C>A (p.Leu16Met)
|
|
|
NM_018062.4(FANCL):c.471+16A>G
|
rs1026741275
|
|
NM_018062.4(FANCL):c.472-6T>A
|
|
|
NM_018062.4(FANCL):c.476C>T (p.Pro159Leu)
|
|
|
NM_018062.4(FANCL):c.478G>A (p.Ala160Thr)
|
rs2105101201
|
|
NM_018062.4(FANCL):c.47T>G (p.Leu16Arg)
|
|
|
NM_018062.4(FANCL):c.494A>G (p.Tyr165Cys)
|
rs2105100994
|
|
NM_018062.4(FANCL):c.4G>A (p.Ala2Thr)
|
|
|
NM_018062.4(FANCL):c.524C>T (p.Ala175Val)
|
rs199966372
|
|
NM_018062.4(FANCL):c.526T>G (p.Ser176Ala)
|
|
|
NM_018062.4(FANCL):c.533C>A (p.Thr178Lys)
|
rs1689674094
|
|
NM_018062.4(FANCL):c.548TAA[1] (p.Ile184del)
|
rs1573532439
|
|
NM_018062.4(FANCL):c.550A>G (p.Ile184Val)
|
rs2104818711
|
|
NM_018062.4(FANCL):c.556A>G (p.Ile186Val)
|
rs1685886480
|
|
NM_018062.4(FANCL):c.563G>C (p.Ser188Thr)
|
|
|
NM_018062.4(FANCL):c.56A>G (p.Asn19Ser)
|
|
|
NM_018062.4(FANCL):c.578C>T (p.Ala193Val)
|
rs2104818267
|
|
NM_018062.4(FANCL):c.57C>G (p.Asn19Lys)
|
rs1694517921
|
|
NM_018062.4(FANCL):c.594G>C (p.Lys198Asn)
|
|
|
NM_018062.4(FANCL):c.5C>T (p.Ala2Val)
|
rs551142193
|
|
NM_018062.4(FANCL):c.608T>C (p.Val203Ala)
|
rs1453411120
|
|
NM_018062.4(FANCL):c.608T>G (p.Val203Gly)
|
rs1453411120
|
|
NM_018062.4(FANCL):c.612G>A (p.Met204Ile)
|
|
|
NM_018062.4(FANCL):c.614A>C (p.Asp205Ala)
|
|
|
NM_018062.4(FANCL):c.614A>G (p.Asp205Gly)
|
|
|
NM_018062.4(FANCL):c.625_627del (p.Glu209del)
|
rs1348381378
|
|
NM_018062.4(FANCL):c.626A>G (p.Glu209Gly)
|
|
|
NM_018062.4(FANCL):c.62C>G (p.Ser21Trp)
|
|
|
NM_018062.4(FANCL):c.637G>C (p.Val213Leu)
|
rs2104817334
|
|
NM_018062.4(FANCL):c.650A>G (p.Glu217Gly)
|
rs1360050423
|
|
NM_018062.4(FANCL):c.659C>T (p.Pro220Leu)
|
|
|
NM_018062.4(FANCL):c.662G>T (p.Arg221Leu)
|
rs761742545
|
|
NM_018062.4(FANCL):c.671C>A (p.Thr224Lys)
|
rs779439089
|
|
NM_018062.4(FANCL):c.676C>T (p.Arg226Cys)
|
|
|
NM_018062.4(FANCL):c.677G>T (p.Arg226Leu)
|
|
|
NM_018062.4(FANCL):c.680G>C (p.Arg227Thr)
|
|
|
NM_018062.4(FANCL):c.68C>T (p.Thr23Ile)
|
|
|
NM_018062.4(FANCL):c.703T>C (p.Ser235Pro)
|
rs1383696633
|
|
NM_018062.4(FANCL):c.719T>C (p.Val240Ala)
|
rs1195674676
|
|
NM_018062.4(FANCL):c.730C>T (p.His244Tyr)
|
|
|
NM_018062.4(FANCL):c.736A>G (p.Thr246Ala)
|
|
|
NM_018062.4(FANCL):c.737C>T (p.Thr246Ile)
|
rs2104800049
|
|
NM_018062.4(FANCL):c.750G>C (p.Glu250Asp)
|
|
|
NM_018062.4(FANCL):c.754T>C (p.Phe252Leu)
|
rs780414432
|
|
NM_018062.4(FANCL):c.760C>T (p.Leu254Phe)
|
rs1331385236
|
|
NM_018062.4(FANCL):c.763G>A (p.Gly255Arg)
|
rs2104799685
|
|
NM_018062.4(FANCL):c.767C>G (p.Ala256Gly)
|
rs781438290
|
|
NM_018062.4(FANCL):c.76G>C (p.Glu26Gln)
|
rs1694515857
|
|
NM_018062.4(FANCL):c.775+10C>G
|
rs751857451
|
|
NM_018062.4(FANCL):c.775+3A>G
|
rs975755966
|
|
NM_018062.4(FANCL):c.775+6A>G
|
|
|
NM_018062.4(FANCL):c.776-10dup
|
rs374236117
|
|
NM_018062.4(FANCL):c.776-13_776-10del
|
rs374236117
|
|
NM_018062.4(FANCL):c.776-6C>G
|
rs1359670933
|
|
NM_018062.4(FANCL):c.778G>C (p.Val260Leu)
|
rs1573514956
|
|
NM_018062.4(FANCL):c.795T>C (p.Ile265=)
|
rs1685442755
|
|
NM_018062.4(FANCL):c.801G>A (p.Leu267=)
|
|
|
NM_018062.4(FANCL):c.803G>A (p.Ser268Asn)
|
|
|
NM_018062.4(FANCL):c.805A>C (p.Arg269=)
|
|
|
NM_018062.4(FANCL):c.80G>T (p.Gly27Val)
|
|
|
NM_018062.4(FANCL):c.814C>G (p.His272Asp)
|
rs1047208127
|
|
NM_018062.4(FANCL):c.842T>C (p.Leu281Ser)
|
rs935920468
|
|
NM_018062.4(FANCL):c.845A>G (p.Gln282Arg)
|
rs2104794990
|
|
NM_018062.4(FANCL):c.862T>A (p.Leu288Ile)
|
|
|
NM_018062.4(FANCL):c.863T>C (p.Leu288Ser)
|
rs1573513610
|
|
NM_018062.4(FANCL):c.869T>C (p.Ile290Thr)
|
|
|
NM_018062.4(FANCL):c.89C>G (p.Ser30Trp)
|
rs763615183
|
|
NM_018062.4(FANCL):c.902C>A (p.Ser301Tyr)
|
|
|
NM_018062.4(FANCL):c.902C>G (p.Ser301Cys)
|
rs1405173705
|
|
NM_018062.4(FANCL):c.903+6T>A
|
|
|
NM_018062.4(FANCL):c.904-4G>T
|
rs757211531
|
|
NM_018062.4(FANCL):c.904-9_904-7del
|
rs757041554
|
|
NM_018062.4(FANCL):c.904-9del
|
rs779011743
|
|
NM_018062.4(FANCL):c.908T>G (p.Phe303Cys)
|
|
|
NM_018062.4(FANCL):c.911C>T (p.Thr304Ile)
|
rs746454771
|
|
NM_018062.4(FANCL):c.913A>G (p.Met305Val)
|
rs553742734
|
|
NM_018062.4(FANCL):c.913A>T (p.Met305Leu)
|
rs553742734
|
|
NM_018062.4(FANCL):c.914T>C (p.Met305Thr)
|
|
|
NM_018062.4(FANCL):c.923G>A (p.Gly308Glu)
|
rs2104783676
|
|
NM_018062.4(FANCL):c.934G>T (p.Ala312Ser)
|
rs2104783559
|
|
NM_018062.4(FANCL):c.942A>G (p.Gln314=)
|
rs1163349462
|
|
NM_018062.4(FANCL):c.949G>A (p.Gly317Ser)
|
rs1060501896
|
|
NM_018062.4(FANCL):c.953C>T (p.Thr318Ile)
|
|
|
NM_018062.4(FANCL):c.955A>C (p.Ile319Leu)
|
|
|
NM_018062.4(FANCL):c.96+4C>A
|
rs1279339819
|
|
NM_018062.4(FANCL):c.96+6C>T
|
rs544743506
|
|
NM_018062.4(FANCL):c.965A>G (p.Gln322Arg)
|
|
|
NM_018062.4(FANCL):c.967G>A (p.Val323Met)
|
rs763057392
|
|
NM_018062.4(FANCL):c.967G>T (p.Val323Leu)
|
rs763057392
|
|
NM_018062.4(FANCL):c.971G>C (p.Cys324Ser)
|
rs1685176362
|
|
NM_018062.4(FANCL):c.974A>T (p.Asp325Val)
|
|
|
NM_018062.4(FANCL):c.984G>T (p.Gln328His)
|
|
|
NM_018124.4(RFWD3):c.1189G>C (p.Val397Leu)
|
rs1567572985
|
|
NM_018124.4(RFWD3):c.1577G>A (p.Ser526Asn)
|
|
|
NM_018124.4(RFWD3):c.1579C>A (p.Leu527Met)
|
|
|
NM_018368.4(LMBRD1):c.*220G>T
|
rs1765534415
|
|
NM_018368.4(LMBRD1):c.*77G>T
|
rs886061690
|
|
NM_018368.4(LMBRD1):c.-57T>C
|
rs886061693
|
|
NM_018368.4(LMBRD1):c.100C>G (p.Arg34Gly)
|
rs773844453
|
|
NM_018368.4(LMBRD1):c.1025T>C (p.Ile342Thr)
|
rs2149844901
|
|
NM_018368.4(LMBRD1):c.1067T>C (p.Leu356Ser)
|
rs1766127830
|
|
NM_018368.4(LMBRD1):c.1109T>C (p.Ile370Thr)
|
|
|
NM_018368.4(LMBRD1):c.1136T>A (p.Phe379Tyr)
|
rs2149844500
|
|
NM_018368.4(LMBRD1):c.1166G>A (p.Gly389Asp)
|
|
|
NM_018368.4(LMBRD1):c.11C>T (p.Ser4Phe)
|
|
|
NM_018368.4(LMBRD1):c.125G>A (p.Ser42Asn)
|
|
|
NM_018368.4(LMBRD1):c.1286A>G (p.Tyr429Cys)
|
|
|
NM_018368.4(LMBRD1):c.1331T>C (p.Leu444Ser)
|
rs2149843427
|
|
NM_018368.4(LMBRD1):c.1370A>G (p.Asn457Ser)
|
|
|
NM_018368.4(LMBRD1):c.1435C>T (p.Arg479Trp)
|
|
|
NM_018368.4(LMBRD1):c.1436G>A (p.Arg479Gln)
|
|
|
NM_018368.4(LMBRD1):c.151A>G (p.Ile51Val)
|
|
|
NM_018368.4(LMBRD1):c.151A>T (p.Ile51Phe)
|
rs758878362
|
|
NM_018368.4(LMBRD1):c.1538G>A (p.Cys513Tyr)
|
|
|
NM_018368.4(LMBRD1):c.156T>G (p.Phe52Leu)
|
|
|
NM_018368.4(LMBRD1):c.1577A>G (p.Glu526Gly)
|
rs761378514
|
|
NM_018368.4(LMBRD1):c.160C>G (p.Leu54Val)
|
rs1402538766
|
|
NM_018368.4(LMBRD1):c.1611C>G (p.Val537=)
|
rs534280770
|
|
NM_018368.4(LMBRD1):c.164C>T (p.Ala55Val)
|
rs750928457
|
|
NM_018368.4(LMBRD1):c.23C>T (p.Ser8Leu)
|
|
|
NM_018368.4(LMBRD1):c.25G>A (p.Ala9Thr)
|
|
|
NM_018368.4(LMBRD1):c.272G>C (p.Arg91Thr)
|
|
|
NM_018368.4(LMBRD1):c.284A>T (p.Asp95Val)
|
rs756284919
|
|
NM_018368.4(LMBRD1):c.323T>C (p.Ile108Thr)
|
|
|
NM_018368.4(LMBRD1):c.368A>G (p.Tyr123Cys)
|
rs1765174962
|
|
NM_018368.4(LMBRD1):c.37A>G (p.Ile13Val)
|
|
|
NM_018368.4(LMBRD1):c.400T>C (p.Cys134Arg)
|
rs1582124917
|
|
NM_018368.4(LMBRD1):c.403A>C (p.Thr135Pro)
|
|
|
NM_018368.4(LMBRD1):c.40G>A (p.Gly14Ser)
|
|
|
NM_018368.4(LMBRD1):c.500A>G (p.Asn167Ser)
|
|
|
NM_018368.4(LMBRD1):c.55G>T (p.Gly19Cys)
|
|
|
NM_018368.4(LMBRD1):c.582A>G (p.Ser194=)
|
rs1387756161
|
|
NM_018368.4(LMBRD1):c.5C>G (p.Ala2Gly)
|
|
|
NM_018368.4(LMBRD1):c.614T>C (p.Met205Thr)
|
|
|
NM_018368.4(LMBRD1):c.641A>G (p.Tyr214Cys)
|
|
|
NM_018368.4(LMBRD1):c.662T>C (p.Leu221Ser)
|
rs2149856480
|
|
NM_018368.4(LMBRD1):c.676G>T (p.Gly226Cys)
|
rs2149856461
|
|
NM_018368.4(LMBRD1):c.686G>A (p.Ser229Asn)
|
|
|
NM_018368.4(LMBRD1):c.687C>G (p.Ser229Arg)
|
|
|
NM_018368.4(LMBRD1):c.695A>G (p.Tyr232Cys)
|
|
|
NM_018368.4(LMBRD1):c.700C>T (p.Arg234Cys)
|
|
|
NM_018368.4(LMBRD1):c.727G>C (p.Glu243Gln)
|
rs1766553572
|
|
NM_018368.4(LMBRD1):c.773G>T (p.Gly258Val)
|
|
|
NM_018368.4(LMBRD1):c.776G>A (p.Arg259Gln)
|
|
|
NM_018368.4(LMBRD1):c.78G>C (p.Leu26Phe)
|
|
|
NM_018368.4(LMBRD1):c.800G>A (p.Arg267His)
|
|
|
NM_018368.4(LMBRD1):c.88T>C (p.Trp30Arg)
|
rs1582168492
|
|
NM_018368.4(LMBRD1):c.940T>G (p.Leu314Val)
|
rs1409901040
|
|
NM_018368.4(LMBRD1):c.947C>T (p.Ala316Val)
|
rs2149845543
|
|
NM_018368.4(LMBRD1):c.953T>C (p.Leu318Pro)
|
|
|
NM_018368.4(LMBRD1):c.980+3A>G
|
|
|
NM_018368.4(LMBRD1):c.981-14G>T
|
rs1324981458
|
|
NM_018368.4(LMBRD1):c.989A>C (p.Lys330Thr)
|
rs766881860
|
|
NM_020207.7(ERCC6L2):c.1414-18C>T
|
|
|
NM_020207.7(ERCC6L2):c.1973G>A (p.Ser658Asn)
|
rs1453856448
|
|
NM_020207.7(ERCC6L2):c.2155G>C (p.Gly719Arg)
|
|
|
NM_020207.7(ERCC6L2):c.3309dup (p.Ser1104fs)
|
|
|
NM_020207.7(ERCC6L2):c.3740_3741del (p.Ile1247fs)
|
|
|
NM_020207.7(ERCC6L2):c.4241A>G (p.Lys1414Arg)
|
rs1588056898
|
|
NM_020207.7(ERCC6L2):c.789-6_789-3del
|
rs754561683
|
|
NM_020937.4(FANCM):c.*100TTTA[1]
|
rs886050504
|
|
NM_020937.4(FANCM):c.*140_*144del
|
rs886050505
|
|
NM_020937.4(FANCM):c.*254dup
|
rs112491585
|
|
NM_020937.4(FANCM):c.1000A>C (p.Ile334Leu)
|
|
|
NM_020937.4(FANCM):c.1010C>T (p.Ala337Val)
|
|
|
NM_020937.4(FANCM):c.1022T>G (p.Phe341Cys)
|
rs756238597
|
|
NM_020937.4(FANCM):c.1028A>G (p.Lys343Arg)
|
|
|
NM_020937.4(FANCM):c.1037C>A (p.Ser346Tyr)
|
rs2139160555
|
|
NM_020937.4(FANCM):c.1056A>G (p.Ile352Met)
|
rs1376949981
|
|
NM_020937.4(FANCM):c.1071C>G (p.Ile357Met)
|
rs780333012
|
|
NM_020937.4(FANCM):c.1087A>G (p.Ile363Val)
|
|
|
NM_020937.4(FANCM):c.108C>T (p.Gly36=)
|
rs760179836
|
|
NM_020937.4(FANCM):c.1097G>A (p.Ser366Asn)
|
|
|
NM_020937.4(FANCM):c.1100T>C (p.Leu367Ser)
|
rs769814213
|
|
NM_020937.4(FANCM):c.1111T>C (p.Tyr371His)
|
|
|
NM_020937.4(FANCM):c.1115A>C (p.Glu372Ala)
|
|
|
NM_020937.4(FANCM):c.1127A>G (p.Gln376Arg)
|
rs1284198432
|
|
NM_020937.4(FANCM):c.1129A>G (p.Met377Val)
|
|
|
NM_020937.4(FANCM):c.1132G>C (p.Gly378Arg)
|
|
|
NM_020937.4(FANCM):c.1133G>A (p.Gly378Glu)
|
rs1060501894
|
|
NM_020937.4(FANCM):c.1155C>T (p.Phe385=)
|
|
|
NM_020937.4(FANCM):c.1163G>T (p.Gly388Val)
|
rs2139169070
|
|
NM_020937.4(FANCM):c.1186A>C (p.Met396Leu)
|
rs768041388
|
|
NM_020937.4(FANCM):c.1189A>G (p.Thr397Ala)
|
|
|
NM_020937.4(FANCM):c.1208T>C (p.Leu403Pro)
|
rs1887059226
|
|
NM_020937.4(FANCM):c.1214G>A (p.Arg405Gln)
|
|
|
NM_020937.4(FANCM):c.121C>A (p.Pro41Thr)
|
|
|
NM_020937.4(FANCM):c.1223A>G (p.Asp408Gly)
|
rs1887060432
|
|
NM_020937.4(FANCM):c.1224C>G (p.Asp408Glu)
|
rs1887060648
|
|
NM_020937.4(FANCM):c.1235T>C (p.Leu412Pro)
|
|
|
NM_020937.4(FANCM):c.124T>A (p.Leu42Met)
|
rs947215531
|
|
NM_020937.4(FANCM):c.1253G>A (p.Cys418Tyr)
|
rs527417380
|
|
NM_020937.4(FANCM):c.1253G>C (p.Cys418Ser)
|
rs527417380
|
|
NM_020937.4(FANCM):c.1260T>A (p.Phe420Leu)
|
|
|
NM_020937.4(FANCM):c.1260T>G (p.Phe420Leu)
|
|
|
NM_020937.4(FANCM):c.1265G>A (p.Arg422His)
|
rs570510177
|
|
NM_020937.4(FANCM):c.1268C>T (p.Thr423Ile)
|
|
|
NM_020937.4(FANCM):c.1270C>G (p.Arg424Gly)
|
|
|
NM_020937.4(FANCM):c.1282G>C (p.Ala428Pro)
|
rs1177585747
|
|
NM_020937.4(FANCM):c.1283C>T (p.Ala428Val)
|
|
|
NM_020937.4(FANCM):c.1285A>T (p.Asn429Tyr)
|
|
|
NM_020937.4(FANCM):c.1295C>T (p.Ser432Phe)
|
rs149379175
|
|
NM_020937.4(FANCM):c.1309+3C>G
|
|
|
NM_020937.4(FANCM):c.1309+6del
|
|
|
NM_020937.4(FANCM):c.1310-13T>A
|
rs749995672
|
|
NM_020937.4(FANCM):c.1310G>C (p.Gly437Ala)
|
rs1290183944
|
|
NM_020937.4(FANCM):c.1314TAAAAA[1] (p.Asn440_Lys441del)
|
rs771036341
|
|
NM_020937.4(FANCM):c.1315A>G (p.Lys439Glu)
|
rs2139173788
|
|
NM_020937.4(FANCM):c.1316A>C (p.Lys439Thr)
|
rs1594773798
|
|
NM_020937.4(FANCM):c.1317A>C (p.Lys439Asn)
|
rs2139173806
|
|
NM_020937.4(FANCM):c.1327T>A (p.Phe443Ile)
|
|
|
NM_020937.4(FANCM):c.1358T>C (p.Leu453Ser)
|
|
|
NM_020937.4(FANCM):c.1361AAG[1] (p.Glu455del)
|
rs1566739002
|
|
NM_020937.4(FANCM):c.1364A>C (p.Glu455Ala)
|
rs889654019
|
|
NM_020937.4(FANCM):c.136G>A (p.Ala46Thr)
|
|
|
NM_020937.4(FANCM):c.1391G>T (p.Trp464Leu)
|
rs1566739075
|
|
NM_020937.4(FANCM):c.1395T>C (p.Asn465=)
|
rs1594773895
|
|
NM_020937.4(FANCM):c.1395T>G (p.Asn465Lys)
|
rs1594773895
|
|
NM_020937.4(FANCM):c.1396+5G>A
|
rs1887116899
|
|
NM_020937.4(FANCM):c.1396+6T>A
|
rs1887117102
|
|
NM_020937.4(FANCM):c.1396G>A (p.Ala466Thr)
|
|
|
NM_020937.4(FANCM):c.1421G>A (p.Arg474His)
|
|
|
NM_020937.4(FANCM):c.1423G>A (p.Asp475Asn)
|
rs1060501892
|
|
NM_020937.4(FANCM):c.1423G>T (p.Asp475Tyr)
|
rs1060501892
|
|
NM_020937.4(FANCM):c.1428G>T (p.Glu476Asp)
|
|
|
NM_020937.4(FANCM):c.1430C>T (p.Thr477Ile)
|
|
|
NM_020937.4(FANCM):c.1439T>A (p.Met480Lys)
|
rs776804525
|
|
NM_020937.4(FANCM):c.1442TCT[1] (p.Phe482del)
|
rs1163631547
|
|
NM_020937.4(FANCM):c.1447T>G (p.Ser483Ala)
|
|
|
NM_020937.4(FANCM):c.1450T>G (p.Ser484Ala)
|
rs1887398867
|
|
NM_020937.4(FANCM):c.1457G>A (p.Arg486Gln)
|
|
|
NM_020937.4(FANCM):c.1463G>A (p.Ser488Asn)
|
rs1566742540
|
|
NM_020937.4(FANCM):c.1466T>C (p.Val489Ala)
|
rs1887401440
|
|
NM_020937.4(FANCM):c.1472A>G (p.Glu491Gly)
|
rs2139186360
|
|
NM_020937.4(FANCM):c.14A>G (p.Gln5Arg)
|
|
|
NM_020937.4(FANCM):c.1501C>G (p.Pro501Ala)
|
rs1887404285
|
|
NM_020937.4(FANCM):c.1511G>C (p.Arg504Thr)
|
rs1023546372
|
|
NM_020937.4(FANCM):c.1518G>A (p.Met506Ile)
|
rs1236513030
|
|
NM_020937.4(FANCM):c.1528G>T (p.Gly510Cys)
|
rs146291619
|
|
NM_020937.4(FANCM):c.1533T>A (p.His511Gln)
|
rs1887408716
|
|
NM_020937.4(FANCM):c.1540G>C (p.Gly514Arg)
|
|
|
NM_020937.4(FANCM):c.1565A>C (p.Gln522Pro)
|
rs371569048
|
|
NM_020937.4(FANCM):c.1577T>A (p.Leu526Gln)
|
rs766715021
|
|
NM_020937.4(FANCM):c.1577T>C (p.Leu526Pro)
|
rs766715021
|
|
NM_020937.4(FANCM):c.157G>A (p.Asp53Asn)
|
|
|
NM_020937.4(FANCM):c.1582-16A>G
|
|
|
NM_020937.4(FANCM):c.1603G>A (p.Gly535Ser)
|
rs757592514
|
|
NM_020937.4(FANCM):c.1607G>T (p.Gly536Val)
|
|
|
NM_020937.4(FANCM):c.160G>C (p.Asp54His)
|
|
|
NM_020937.4(FANCM):c.161ATG[1] (p.Asp55del)
|
rs1566716075
|
|
NM_020937.4(FANCM):c.1628C>T (p.Thr543Ile)
|
rs1887816758
|
|
NM_020937.4(FANCM):c.1646G>A (p.Gly549Asp)
|
|
|
NM_020937.4(FANCM):c.164A>T (p.Asp55Val)
|
rs1255434449
|
|
NM_020937.4(FANCM):c.1658_1660del (p.Gly553del)
|
rs866897480
|
|
NM_020937.4(FANCM):c.1675A>G (p.Ile559Val)
|
|
|
NM_020937.4(FANCM):c.1678T>C (p.Cys560Arg)
|
rs2139204843
|
|
NM_020937.4(FANCM):c.1688C>T (p.Ser563Phe)
|
rs1313731290
|
|
NM_020937.4(FANCM):c.1690C>A (p.Gln564Lys)
|
|
|
NM_020937.4(FANCM):c.1705C>A (p.Arg569Ser)
|
rs1388696715
|
|
NM_020937.4(FANCM):c.1705C>T (p.Arg569Cys)
|
rs1388696715
|
|
NM_020937.4(FANCM):c.1709T>C (p.Leu570Pro)
|
rs757831397
|
|
NM_020937.4(FANCM):c.1711G>A (p.Val571Ile)
|
rs1887826018
|
|
NM_020937.4(FANCM):c.1718G>A (p.Arg573Gln)
|
|
|
NM_020937.4(FANCM):c.172C>T (p.Leu58Phe)
|
rs1555358404
|
|
NM_020937.4(FANCM):c.1738A>C (p.Lys580Gln)
|
rs1887827994
|
|
NM_020937.4(FANCM):c.1747G>A (p.Gly583Ser)
|
|
|
NM_020937.4(FANCM):c.1763T>G (p.Ile588Ser)
|
|
|
NM_020937.4(FANCM):c.1771G>A (p.Glu591Lys)
|
|
|
NM_020937.4(FANCM):c.1778G>A (p.Arg593Gln)
|
rs1887831277
|
|
NM_020937.4(FANCM):c.1783G>A (p.Glu595Lys)
|
rs568513434
|
|
NM_020937.4(FANCM):c.1786C>A (p.Arg596Ser)
|
rs765671208
|
|
NM_020937.4(FANCM):c.1787G>A (p.Arg596His)
|
rs1325033142
|
|
NM_020937.4(FANCM):c.1788+6T>G
|
rs2139205570
|
|
NM_020937.4(FANCM):c.1795A>T (p.Asn599Tyr)
|
|
|
NM_020937.4(FANCM):c.179C>T (p.Ala60Val)
|
rs200717151
|
|
NM_020937.4(FANCM):c.17G>T (p.Arg6Ile)
|
rs1464500995
|
|
NM_020937.4(FANCM):c.1808C>A (p.Ser603Tyr)
|
rs1888020761
|
|
NM_020937.4(FANCM):c.1810A>G (p.Asn604Asp)
|
|
|
NM_020937.4(FANCM):c.1814A>G (p.Lys605Arg)
|
|
|
NM_020937.4(FANCM):c.1826A>G (p.Tyr609Cys)
|
|
|
NM_020937.4(FANCM):c.182C>G (p.Ala61Gly)
|
|
|
NM_020937.4(FANCM):c.1841G>C (p.Ser614Thr)
|
rs1888024744
|
|
NM_020937.4(FANCM):c.1847G>C (p.Arg616Thr)
|
rs2139214385
|
|
NM_020937.4(FANCM):c.1862T>A (p.Phe621Tyr)
|
rs2139214525
|
|
NM_020937.4(FANCM):c.1871G>A (p.Arg624Lys)
|
|
|
NM_020937.4(FANCM):c.1876C>T (p.Pro626Ser)
|
rs1462865463
|
|
NM_020937.4(FANCM):c.1880G>A (p.Arg627Gln)
|
rs777379515
|
|
NM_020937.4(FANCM):c.1882A>C (p.Met628Leu)
|
rs1888029552
|
|
NM_020937.4(FANCM):c.1892A>T (p.Asp631Val)
|
|
|
NM_020937.4(FANCM):c.189G>T (p.Glu63Asp)
|
rs1885484309
|
|
NM_020937.4(FANCM):c.1913A>G (p.His638Arg)
|
rs2139214853
|
|
NM_020937.4(FANCM):c.1914C>G (p.His638Gln)
|
|
|
NM_020937.4(FANCM):c.1916A>G (p.Lys639Arg)
|
rs2139214881
|
|
NM_020937.4(FANCM):c.1922T>A (p.Phe641Tyr)
|
rs2139214923
|
|
NM_020937.4(FANCM):c.1924A>G (p.Ile642Val)
|
rs1555363268
|
|
NM_020937.4(FANCM):c.1931A>G (p.His644Arg)
|
|
|
NM_020937.4(FANCM):c.1933G>A (p.Gly645Ser)
|
|
|
NM_020937.4(FANCM):c.1933G>C (p.Gly645Arg)
|
|
|
NM_020937.4(FANCM):c.1934G>A (p.Gly645Asp)
|
|
|
NM_020937.4(FANCM):c.1942G>A (p.Glu648Lys)
|
rs2139215069
|
|
NM_020937.4(FANCM):c.1951A>C (p.Lys651Gln)
|
rs774816428
|
|
NM_020937.4(FANCM):c.1954C>G (p.Pro652Ala)
|
rs945079138
|
|
NM_020937.4(FANCM):c.1958C>G (p.Ser653Cys)
|
rs1888036983
|
|
NM_020937.4(FANCM):c.1976A>T (p.Lys659Met)
|
rs1888039727
|
|
NM_020937.4(FANCM):c.1981T>G (p.Ser661Ala)
|
|
|
NM_020937.4(FANCM):c.1982C>T (p.Ser661Phe)
|
|
|
NM_020937.4(FANCM):c.1984A>G (p.Ile662Val)
|
rs1175276940
|
|
NM_020937.4(FANCM):c.1A>G (p.Met1Val)
|
rs752141076
|
|
NM_020937.4(FANCM):c.2003-5T>G
|
rs2139226103
|
|
NM_020937.4(FANCM):c.2012A>G (p.Gln671Arg)
|
rs1888274919
|
|
NM_020937.4(FANCM):c.2024A>G (p.Lys675Arg)
|
rs1888275563
|
|
NM_020937.4(FANCM):c.2029G>A (p.Asp677Asn)
|
rs1888276122
|
|
NM_020937.4(FANCM):c.2040A>T (p.Leu680Phe)
|
|
|
NM_020937.4(FANCM):c.2041T>C (p.Ser681Pro)
|
|
|
NM_020937.4(FANCM):c.2046A>T (p.Glu682Asp)
|
|
|
NM_020937.4(FANCM):c.2049A>T (p.Glu683Asp)
|
rs1888277477
|
|
NM_020937.4(FANCM):c.2053T>C (p.Phe685Leu)
|
|
|
NM_020937.4(FANCM):c.2053T>G (p.Phe685Val)
|
rs772645088
|
|
NM_020937.4(FANCM):c.2058A>C (p.Lys686Asn)
|
rs1888278178
|
|
NM_020937.4(FANCM):c.2062T>C (p.Trp688Arg)
|
rs1888278549
|
|
NM_020937.4(FANCM):c.2063G>C (p.Trp688Ser)
|
rs2139226471
|
|
NM_020937.4(FANCM):c.2064G>C (p.Trp688Cys)
|
|
|
NM_020937.4(FANCM):c.2078G>A (p.Arg693Lys)
|
|
|
NM_020937.4(FANCM):c.2089A>G (p.Ser697Gly)
|
|
|
NM_020937.4(FANCM):c.2104_2105delinsAG (p.Glu702Arg)
|
|
|
NM_020937.4(FANCM):c.2107A>T (p.Ile703Leu)
|
|
|
NM_020937.4(FANCM):c.2108T>G (p.Ile703Arg)
|
rs1594792069
|
|
NM_020937.4(FANCM):c.2110A>G (p.Thr704Ala)
|
rs1888283068
|
|
NM_020937.4(FANCM):c.2122G>A (p.Val708Ile)
|
rs1888284033
|
|
NM_020937.4(FANCM):c.2135_2140dup (p.Leu713_Gln714insProLeu)
|
|
|
NM_020937.4(FANCM):c.2138T>C (p.Leu713Ser)
|
|
|
NM_020937.4(FANCM):c.2140C>G (p.Gln714Glu)
|
|
|
NM_020937.4(FANCM):c.214A>G (p.Asn72Asp)
|
|
|
NM_020937.4(FANCM):c.2160+10A>G
|
rs767254996
|
|
NM_020937.4(FANCM):c.2161-5T>C
|
rs2139234390
|
|
NM_020937.4(FANCM):c.2162C>G (p.Ala721Gly)
|
rs1479368252
|
|
NM_020937.4(FANCM):c.2162C>T (p.Ala721Val)
|
|
|
NM_020937.4(FANCM):c.2164C>G (p.Gln722Glu)
|
|
|
NM_020937.4(FANCM):c.2167G>A (p.Glu723Lys)
|
|
|
NM_020937.4(FANCM):c.2185C>T (p.His729Tyr)
|
|
|
NM_020937.4(FANCM):c.2190A>T (p.Gln730His)
|
rs117392855
|
|
NM_020937.4(FANCM):c.2191C>T (p.Leu731Phe)
|
|
|
NM_020937.4(FANCM):c.2203G>C (p.Glu735Gln)
|
|
|
NM_020937.4(FANCM):c.2205A>T (p.Glu735Asp)
|
rs759456936
|
|
NM_020937.4(FANCM):c.2208G>C (p.Trp736Cys)
|
rs2139234709
|
|
NM_020937.4(FANCM):c.221G>C (p.Gly74Ala)
|
rs1348903394
|
|
NM_020937.4(FANCM):c.2225A>G (p.His742Arg)
|
|
|
NM_020937.4(FANCM):c.2234C>G (p.Pro745Arg)
|
rs371756587
|
|
NM_020937.4(FANCM):c.2237C>T (p.Thr746Ile)
|
rs773541028
|
|
NM_020937.4(FANCM):c.2253C>A (p.His751Gln)
|
|
|
NM_020937.4(FANCM):c.2257G>T (p.Asp753Tyr)
|
rs1888448129
|
|
NM_020937.4(FANCM):c.2258A>G (p.Asp753Gly)
|
rs756438082
|
|
NM_020937.4(FANCM):c.2261G>C (p.Arg754Pro)
|
|
|
NM_020937.4(FANCM):c.2263T>C (p.Cys755Arg)
|
|
|
NM_020937.4(FANCM):c.2266C>A (p.Arg756Ser)
|
|
|
NM_020937.4(FANCM):c.2267G>T (p.Arg756Leu)
|
rs142763060
|
|
NM_020937.4(FANCM):c.226T>C (p.Cys76Arg)
|
|
|
NM_020937.4(FANCM):c.2284A>G (p.Met762Val)
|
rs746984040
|
|
NM_020937.4(FANCM):c.2285T>C (p.Met762Thr)
|
rs1359486439
|
|
NM_020937.4(FANCM):c.2285T>G (p.Met762Arg)
|
|
|
NM_020937.4(FANCM):c.2302A>G (p.Met768Val)
|
rs1594795205
|
|
NM_020937.4(FANCM):c.2304G>A (p.Met768Ile)
|
|
|
NM_020937.4(FANCM):c.2305A>G (p.Arg769Gly)
|
rs2139235357
|
|
NM_020937.4(FANCM):c.2310C>G (p.His770Gln)
|
rs566935444
|
|
NM_020937.4(FANCM):c.2316+11_2316+13del
|
rs2139235450
|
|
NM_020937.4(FANCM):c.2316+4G>C
|
|
|
NM_020937.4(FANCM):c.2316G>A (p.Glu772=)
|
|
|
NM_020937.4(FANCM):c.2318G>A (p.Gly773Glu)
|
|
|
NM_020937.4(FANCM):c.2323T>A (p.Cys775Ser)
|
|
|
NM_020937.4(FANCM):c.2328C>G (p.Ser776Arg)
|
rs1181869875
|
|
NM_020937.4(FANCM):c.2333A>C (p.Glu778Ala)
|
rs1888576524
|
|
NM_020937.4(FANCM):c.2342T>A (p.Val781Asp)
|
|
|
NM_020937.4(FANCM):c.2377A>G (p.Thr793Ala)
|
|
|
NM_020937.4(FANCM):c.2377A>T (p.Thr793Ser)
|
rs201232194
|
|
NM_020937.4(FANCM):c.2380T>C (p.Phe794Leu)
|
|
|
NM_020937.4(FANCM):c.23T>A (p.Leu8His)
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NM_020937.4(FANCM):c.2420A>G (p.Asp807Gly)
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NM_020937.4(FANCM):c.2423C>A (p.Thr808Asn)
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NM_020937.4(FANCM):c.2436C>A (p.His812Gln)
|
|
|
NM_020937.4(FANCM):c.2436C>G (p.His812Gln)
|
rs1888585906
|
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NM_020937.4(FANCM):c.2457G>T (p.Lys819Asn)
|
rs145592211
|
|
NM_020937.4(FANCM):c.2470G>A (p.Gly824Ser)
|
rs2139241694
|
|
NM_020937.4(FANCM):c.2471G>T (p.Gly824Val)
|
|
|
NM_020937.4(FANCM):c.247T>G (p.Trp83Gly)
|
rs1885493663
|
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NM_020937.4(FANCM):c.2492A>C (p.Glu831Ala)
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NM_020937.4(FANCM):c.2498A>C (p.Asp833Ala)
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NM_020937.4(FANCM):c.2501A>C (p.Glu834Ala)
|
rs923735366
|
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NM_020937.4(FANCM):c.2507G>T (p.Cys836Phe)
|
|
|
NM_020937.4(FANCM):c.251T>G (p.Ile84Ser)
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NM_020937.4(FANCM):c.2527A>T (p.Thr843Ser)
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NM_020937.4(FANCM):c.2530C>T (p.His844Tyr)
|
rs2139242067
|
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NM_020937.4(FANCM):c.2539C>A (p.Pro847Thr)
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|
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NM_020937.4(FANCM):c.2545A>G (p.Lys849Glu)
|
rs1007624205
|
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NM_020937.4(FANCM):c.2548A>G (p.Ile850Val)
|
rs2139242181
|
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NM_020937.4(FANCM):c.254A>G (p.Tyr85Cys)
|
rs1555358445
|
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NM_020937.4(FANCM):c.2563A>G (p.Lys855Glu)
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|
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NM_020937.4(FANCM):c.2567A>C (p.Lys856Thr)
|
rs565751937
|
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NM_020937.4(FANCM):c.256C>T (p.Pro86Ser)
|
rs2139101859
|
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NM_020937.4(FANCM):c.2578_2580del (p.Glu860del)
|
rs1888597959
|
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NM_020937.4(FANCM):c.2582_2584del (p.Ile861del)
|
rs759751361
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NM_020937.4(FANCM):c.2584A>G (p.Lys862Glu)
|
rs1888599671
|
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NM_020937.4(FANCM):c.2599A>G (p.Lys867Glu)
|
rs1888601587
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NM_020937.4(FANCM):c.2603A>T (p.Lys868Ile)
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|
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NM_020937.4(FANCM):c.260C>T (p.Thr87Ile)
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NM_020937.4(FANCM):c.2617G>A (p.Gly873Ser)
|
rs538729337
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NM_020937.4(FANCM):c.2617G>T (p.Gly873Cys)
|
rs538729337
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NM_020937.4(FANCM):c.2624T>C (p.Ile875Thr)
|
rs1594797856
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NM_020937.4(FANCM):c.263A>G (p.Asn88Ser)
|
rs1566716433
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NM_020937.4(FANCM):c.2642A>G (p.Asp881Gly)
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NM_020937.4(FANCM):c.2661A>C (p.Glu887Asp)
|
rs1888608441
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NM_020937.4(FANCM):c.2662A>C (p.Asn888His)
|
rs755964806
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NM_020937.4(FANCM):c.2672A>G (p.Gln891Arg)
|
rs753820999
|
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NM_020937.4(FANCM):c.2673A>G (p.Gln891=)
|
rs1314872979
|
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NM_020937.4(FANCM):c.2678A>G (p.Asp893Gly)
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NM_020937.4(FANCM):c.2678_2680dup (p.Asp893_Leu894insHis)
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NM_020937.4(FANCM):c.2686A>G (p.Asn896Asp)
|
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NM_020937.4(FANCM):c.2687A>G (p.Asn896Ser)
|
rs2139243150
|
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NM_020937.4(FANCM):c.2693A>G (p.Lys898Arg)
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NM_020937.4(FANCM):c.2698A>C (p.Thr900Pro)
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NM_020937.4(FANCM):c.2699C>T (p.Thr900Ile)
|
rs1555364640
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NM_020937.4(FANCM):c.2705A>C (p.Asp902Ala)
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|
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NM_020937.4(FANCM):c.2723C>G (p.Ala908Gly)
|
rs201464936
|
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NM_020937.4(FANCM):c.2723C>T (p.Ala908Val)
|
rs201464936
|
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NM_020937.4(FANCM):c.2729G>A (p.Cys910Tyr)
|
rs2139243498
|
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NM_020937.4(FANCM):c.272T>C (p.Val91Ala)
|
rs1885496103
|
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NM_020937.4(FANCM):c.2741A>C (p.Glu914Ala)
|
rs774814027
|
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NM_020937.4(FANCM):c.2754A>C (p.Lys918Asn)
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NM_020937.4(FANCM):c.2764G>A (p.Val922Met)
|
rs1888619129
|
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NM_020937.4(FANCM):c.2784G>T (p.Gln928His)
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NM_020937.4(FANCM):c.2792A>G (p.Asn931Ser)
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NM_020937.4(FANCM):c.2801C>G (p.Thr934Ser)
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NM_020937.4(FANCM):c.2801C>T (p.Thr934Ile)
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NM_020937.4(FANCM):c.2804G>A (p.Ser935Asn)
|
rs1888621670
|
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NM_020937.4(FANCM):c.2804G>T (p.Ser935Ile)
|
rs1888621670
|
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NM_020937.4(FANCM):c.2812G>T (p.Ala938Ser)
|
|
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NM_020937.4(FANCM):c.2813C>G (p.Ala938Gly)
|
rs2139244001
|
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NM_020937.4(FANCM):c.2834G>C (p.Gly945Ala)
|
rs1193165722
|
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NM_020937.4(FANCM):c.2837A>G (p.Tyr946Cys)
|
|
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NM_020937.4(FANCM):c.2842A>G (p.Ser948Gly)
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|
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NM_020937.4(FANCM):c.2861C>G (p.Ser954Cys)
|
rs1594798282
|
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NM_020937.4(FANCM):c.2869T>C (p.Ser957Pro)
|
rs1888628299
|
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NM_020937.4(FANCM):c.2881_2901del (p.Leu961_Leu967del)
|
rs1888630158
|
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NM_020937.4(FANCM):c.2888T>C (p.Phe963Ser)
|
|
|
NM_020937.4(FANCM):c.2889C>G (p.Phe963Leu)
|
|
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NM_020937.4(FANCM):c.2892A>G (p.Glu964=)
|
rs1300082794
|
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NM_020937.4(FANCM):c.2896G>C (p.Glu966Gln)
|
rs762791482
|
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NM_020937.4(FANCM):c.2908G>A (p.Val970Ile)
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NM_020937.4(FANCM):c.2908G>T (p.Val970Phe)
|
rs1245895480
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NM_020937.4(FANCM):c.2921A>G (p.Asp974Gly)
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|
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NM_020937.4(FANCM):c.2922C>A (p.Asp974Glu)
|
rs1888633712
|
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NM_020937.4(FANCM):c.2952A>C (p.Lys984Asn)
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|
|
NM_020937.4(FANCM):c.2956G>A (p.Val986Ile)
|
rs112345761
|
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NM_020937.4(FANCM):c.295T>C (p.Ser99Pro)
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|
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NM_020937.4(FANCM):c.2967T>G (p.Asn989Lys)
|
|
|
NM_020937.4(FANCM):c.2971_2972delinsAG (p.Glu991Arg)
|
rs2139245094
|
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NM_020937.4(FANCM):c.2979T>G (p.Phe993Leu)
|
|
|
NM_020937.4(FANCM):c.2990C>A (p.Ser997Tyr)
|
|
|
NM_020937.4(FANCM):c.3004A>G (p.Ser1002Gly)
|
rs1594798521
|
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NM_020937.4(FANCM):c.301G>T (p.Ala101Ser)
|
|
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NM_020937.4(FANCM):c.3037A>G (p.Lys1013Glu)
|
rs1888643453
|
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NM_020937.4(FANCM):c.3041G>T (p.Gly1014Val)
|
|
|
NM_020937.4(FANCM):c.3054G>T (p.Glu1018Asp)
|
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NM_020937.4(FANCM):c.3058T>A (p.Leu1020Met)
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NM_020937.4(FANCM):c.3061C>T (p.Leu1021Phe)
|
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NM_020937.4(FANCM):c.3064T>C (p.Phe1022Leu)
|
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NM_020937.4(FANCM):c.3065T>C (p.Phe1022Ser)
|
rs1263906591
|
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NM_020937.4(FANCM):c.307C>G (p.Leu103Val)
|
rs768136056
|
|
NM_020937.4(FANCM):c.3089G>A (p.Arg1030Gln)
|
rs1594798699
|
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NM_020937.4(FANCM):c.3092G>T (p.Ser1031Ile)
|
rs1176625946
|
|
NM_020937.4(FANCM):c.3095A>G (p.Asp1032Gly)
|
rs776989238
|
|
NM_020937.4(FANCM):c.3095A>T (p.Asp1032Val)
|
rs776989238
|
|
NM_020937.4(FANCM):c.3102C>G (p.Cys1034Trp)
|
|
|
NM_020937.4(FANCM):c.3103A>C (p.Thr1035Pro)
|
rs1594798747
|
|
NM_020937.4(FANCM):c.3103A>T (p.Thr1035Ser)
|
|
|
NM_020937.4(FANCM):c.3111G>C (p.Leu1037Phe)
|
rs2139246120
|
|
NM_020937.4(FANCM):c.3113T>C (p.Leu1038Pro)
|
|
|
NM_020937.4(FANCM):c.3134C>T (p.Ser1045Phe)
|
|
|
NM_020937.4(FANCM):c.3149A>T (p.Glu1050Val)
|
|
|
NM_020937.4(FANCM):c.3152T>C (p.Leu1051Ser)
|
rs1888655331
|
|
NM_020937.4(FANCM):c.3166T>G (p.Cys1056Gly)
|
|
|
NM_020937.4(FANCM):c.3187A>G (p.Lys1063Glu)
|
rs1171533572
|
|
NM_020937.4(FANCM):c.3191G>A (p.Ser1064Asn)
|
|
|
NM_020937.4(FANCM):c.3205A>G (p.Ile1069Val)
|
rs2139246678
|
|
NM_020937.4(FANCM):c.3206T>C (p.Ile1069Thr)
|
|
|
NM_020937.4(FANCM):c.3218A>G (p.Asn1073Ser)
|
rs1888660531
|
|
NM_020937.4(FANCM):c.3221T>C (p.Ile1074Thr)
|
|
|
NM_020937.4(FANCM):c.3224C>A (p.Ser1075Tyr)
|
rs1888661185
|
|
NM_020937.4(FANCM):c.3224C>T (p.Ser1075Phe)
|
|
|
NM_020937.4(FANCM):c.3227A>G (p.Asp1076Gly)
|
|
|
NM_020937.4(FANCM):c.3238C>G (p.Leu1080Val)
|
rs1888662319
|
|
NM_020937.4(FANCM):c.3238C>T (p.Leu1080Phe)
|
|
|
NM_020937.4(FANCM):c.3240CTGTGA[1] (p.1081CD[1])
|
rs1888662522
|
|
NM_020937.4(FANCM):c.3242G>A (p.Cys1081Tyr)
|
rs1273042421
|
|
NM_020937.4(FANCM):c.3244G>A (p.Asp1082Asn)
|
rs2139246974
|
|
NM_020937.4(FANCM):c.3247T>C (p.Cys1083Arg)
|
rs1594798970
|
|
NM_020937.4(FANCM):c.324G>A (p.Leu108=)
|
rs1885502120
|
|
NM_020937.4(FANCM):c.3254T>C (p.Val1085Ala)
|
|
|
NM_020937.4(FANCM):c.3258T>A (p.His1086Gln)
|
rs2139247109
|
|
NM_020937.4(FANCM):c.3261A>T (p.Lys1087Asn)
|
rs1888664392
|
|
NM_020937.4(FANCM):c.3263A>G (p.His1088Arg)
|
|
|
NM_020937.4(FANCM):c.3268C>G (p.Gln1090Glu)
|
rs752061240
|
|
NM_020937.4(FANCM):c.326T>C (p.Val109Ala)
|
rs1594750831
|
|
NM_020937.4(FANCM):c.3292A>G (p.Asn1098Asp)
|
rs1888666556
|
|
NM_020937.4(FANCM):c.3303A>C (p.Gln1101His)
|
rs1403821078
|
|
NM_020937.4(FANCM):c.3313A>G (p.Ser1105Gly)
|
rs777264888
|
|
NM_020937.4(FANCM):c.3319G>A (p.Ala1107Thr)
|
rs996666429
|
|
NM_020937.4(FANCM):c.3323A>G (p.Gln1108Arg)
|
rs376223629
|
|
NM_020937.4(FANCM):c.3327T>A (p.Asn1109Lys)
|
|
|
NM_020937.4(FANCM):c.3331G>A (p.Val1111Ile)
|
|
|
NM_020937.4(FANCM):c.3344A>G (p.Asn1115Ser)
|
|
|
NM_020937.4(FANCM):c.3366C>A (p.Asp1122Glu)
|
rs768546653
|
|
NM_020937.4(FANCM):c.3367C>T (p.Leu1123Phe)
|
rs1888672087
|
|
NM_020937.4(FANCM):c.3368T>C (p.Leu1123Pro)
|
|
|
NM_020937.4(FANCM):c.3373G>C (p.Val1125Leu)
|
rs1594799126
|
|
NM_020937.4(FANCM):c.3382A>T (p.Thr1128Ser)
|
|
|
NM_020937.4(FANCM):c.3394G>A (p.Glu1132Lys)
|
|
|
NM_020937.4(FANCM):c.3402G>C (p.Leu1134Phe)
|
rs1888675805
|
|
NM_020937.4(FANCM):c.3410T>G (p.Phe1137Cys)
|
rs774431370
|
|
NM_020937.4(FANCM):c.3436G>C (p.Asp1146His)
|
|
|
NM_020937.4(FANCM):c.3440T>G (p.Val1147Gly)
|
|
|
NM_020937.4(FANCM):c.3442A>G (p.Ser1148Gly)
|
rs1888681289
|
|
NM_020937.4(FANCM):c.3455T>C (p.Leu1152Ser)
|
rs948354347
|
|
NM_020937.4(FANCM):c.3460A>G (p.Ser1154Gly)
|
|
|
NM_020937.4(FANCM):c.3461G>T (p.Ser1154Ile)
|
|
|
NM_020937.4(FANCM):c.3467G>A (p.Ser1156Asn)
|
rs2139248693
|
|
NM_020937.4(FANCM):c.3478C>G (p.Pro1160Ala)
|
|
|
NM_020937.4(FANCM):c.3489C>A (p.Asp1163Glu)
|
|
|
NM_020937.4(FANCM):c.3489C>G (p.Asp1163Glu)
|
|
|
NM_020937.4(FANCM):c.3494C>G (p.Thr1165Ser)
|
rs200110609
|
|
NM_020937.4(FANCM):c.3494_3499dup (p.Ala1166_Ile1167insThrAla)
|
|
|
NM_020937.4(FANCM):c.3500T>C (p.Ile1167Thr)
|
rs1888687169
|
|
NM_020937.4(FANCM):c.3504T>G (p.Ser1168Arg)
|
rs2139249069
|
|
NM_020937.4(FANCM):c.3514C>G (p.Leu1172Val)
|
rs774361836
|
|
NM_020937.4(FANCM):c.3517G>A (p.Val1173Ile)
|
rs772176794
|
|
NM_020937.4(FANCM):c.3525G>C (p.Gln1175His)
|
rs761300333
|
|
NM_020937.4(FANCM):c.3525G>T (p.Gln1175His)
|
rs761300333
|
|
NM_020937.4(FANCM):c.3539A>G (p.Asp1180Gly)
|
rs2139249394
|
|
NM_020937.4(FANCM):c.3556A>G (p.Asn1186Asp)
|
rs1375995948
|
|
NM_020937.4(FANCM):c.3568C>T (p.Leu1190Phe)
|
rs367682848
|
|
NM_020937.4(FANCM):c.3578A>C (p.Gln1193Pro)
|
rs1888695039
|
|
NM_020937.4(FANCM):c.3584C>G (p.Thr1195Ser)
|
|
|
NM_020937.4(FANCM):c.3586C>T (p.Arg1196Cys)
|
rs1360072407
|
|
NM_020937.4(FANCM):c.3613G>A (p.Asp1205Asn)
|
rs936653683
|
|
NM_020937.4(FANCM):c.3625G>A (p.Val1209Ile)
|
|
|
NM_020937.4(FANCM):c.3626T>C (p.Val1209Ala)
|
|
|
NM_020937.4(FANCM):c.3628C>G (p.Gln1210Glu)
|
rs372276411
|
|
NM_020937.4(FANCM):c.362C>T (p.Ala121Val)
|
rs899740775
|
|
NM_020937.4(FANCM):c.3631G>A (p.Glu1211Lys)
|
|
|
NM_020937.4(FANCM):c.3640G>A (p.Val1214Met)
|
rs1888701877
|
|
NM_020937.4(FANCM):c.3650A>C (p.His1217Pro)
|
rs762245674
|
|
NM_020937.4(FANCM):c.3653A>G (p.Glu1218Gly)
|
rs2139250247
|
|
NM_020937.4(FANCM):c.3654G>C (p.Glu1218Asp)
|
|
|
NM_020937.4(FANCM):c.3659T>G (p.Ile1220Ser)
|
rs2139250318
|
|
NM_020937.4(FANCM):c.3662T>C (p.Phe1221Ser)
|
rs1350824740
|
|
NM_020937.4(FANCM):c.3664G>C (p.Asp1222His)
|
rs145411480
|
|
NM_020937.4(FANCM):c.3670T>C (p.Ser1224Pro)
|
|
|
NM_020937.4(FANCM):c.3683T>C (p.Phe1228Ser)
|
rs1566765698
|
|
NM_020937.4(FANCM):c.3692C>A (p.Thr1231Asn)
|
rs1555364981
|
|
NM_020937.4(FANCM):c.3697G>C (p.Asp1233His)
|
rs1888706777
|
|
NM_020937.4(FANCM):c.36G>T (p.Trp12Cys)
|
rs2139099472
|
|
NM_020937.4(FANCM):c.3703G>C (p.Gly1235Arg)
|
rs1888706953
|
|
NM_020937.4(FANCM):c.3706T>G (p.Phe1236Val)
|
|
|
NM_020937.4(FANCM):c.3725A>G (p.Asp1242Gly)
|
rs994282538
|
|
NM_020937.4(FANCM):c.3729T>G (p.Asp1243Glu)
|
|
|
NM_020937.4(FANCM):c.3736T>G (p.Leu1246Val)
|
rs1888710046
|
|
NM_020937.4(FANCM):c.3743A>G (p.His1248Arg)
|
rs1181209142
|
|
NM_020937.4(FANCM):c.3746C>A (p.Thr1249Lys)
|
rs768667842
|
|
NM_020937.4(FANCM):c.374T>C (p.Met125Thr)
|
rs780601895
|
|
NM_020937.4(FANCM):c.3752A>G (p.Asp1251Gly)
|
rs1425871684
|
|
NM_020937.4(FANCM):c.375G>A (p.Met125Ile)
|
|
|
NM_020937.4(FANCM):c.3760A>G (p.Arg1254Gly)
|
|
|
NM_020937.4(FANCM):c.3763C>T (p.Pro1255Ser)
|
rs770651053
|
|
NM_020937.4(FANCM):c.3767T>G (p.Leu1256Arg)
|
|
|
NM_020937.4(FANCM):c.3769GAT[1] (p.Asp1258del)
|
rs2139251128
|
|
NM_020937.4(FANCM):c.3785G>A (p.Arg1262Lys)
|
rs2139251254
|
|
NM_020937.4(FANCM):c.3788A>G (p.Tyr1263Cys)
|
|
|
NM_020937.4(FANCM):c.3793G>C (p.Glu1265Gln)
|
rs1566766047
|
|
NM_020937.4(FANCM):c.3799A>C (p.Lys1267Gln)
|
rs1888716067
|
|
NM_020937.4(FANCM):c.3819T>A (p.Asn1273Lys)
|
rs2139251440
|
|
NM_020937.4(FANCM):c.3830A>G (p.Asn1277Ser)
|
rs1594799862
|
|
NM_020937.4(FANCM):c.3831T>A (p.Asn1277Lys)
|
rs1888717904
|
|
NM_020937.4(FANCM):c.3856A>G (p.Ser1286Gly)
|
|
|
NM_020937.4(FANCM):c.3857G>T (p.Ser1286Ile)
|
|
|
NM_020937.4(FANCM):c.385T>C (p.Tyr129His)
|
rs1360033335
|
|
NM_020937.4(FANCM):c.3871A>G (p.Ser1291Gly)
|
|
|
NM_020937.4(FANCM):c.3875G>A (p.Gly1292Glu)
|
|
|
NM_020937.4(FANCM):c.3882TAT[1] (p.Ile1296del)
|
rs1312125043
|
|
NM_020937.4(FANCM):c.3883A>G (p.Ile1295Val)
|
rs2139251959
|
|
NM_020937.4(FANCM):c.388C>G (p.Arg130Gly)
|
rs758891745
|
|
NM_020937.4(FANCM):c.388C>T (p.Arg130Cys)
|
rs758891745
|
|
NM_020937.4(FANCM):c.3896A>T (p.Asn1299Ile)
|
rs761637559
|
|
NM_020937.4(FANCM):c.389G>A (p.Arg130His)
|
rs751804045
|
|
NM_020937.4(FANCM):c.389G>T (p.Arg130Leu)
|
|
|
NM_020937.4(FANCM):c.3900A>C (p.Glu1300Asp)
|
|
|
NM_020937.4(FANCM):c.3902A>T (p.Asp1301Val)
|
rs1183935509
|
|
NM_020937.4(FANCM):c.3907C>A (p.Gln1303Lys)
|
rs369549739
|
|
NM_020937.4(FANCM):c.3916A>G (p.Asn1306Asp)
|
|
|
NM_020937.4(FANCM):c.3919T>C (p.Tyr1307His)
|
rs1888726971
|
|
NM_020937.4(FANCM):c.3931C>T (p.Pro1311Ser)
|
rs143997277
|
|
NM_020937.4(FANCM):c.3941C>T (p.Ala1314Val)
|
|
|
NM_020937.4(FANCM):c.3960G>C (p.Leu1320Phe)
|
|
|
NM_020937.4(FANCM):c.3962T>C (p.Leu1321Ser)
|
|
|
NM_020937.4(FANCM):c.3964T>G (p.Ser1322Ala)
|
|
|
NM_020937.4(FANCM):c.3965C>T (p.Ser1322Phe)
|
rs1594800025
|
|
NM_020937.4(FANCM):c.3968C>A (p.Pro1323His)
|
|
|
NM_020937.4(FANCM):c.3968C>T (p.Pro1323Leu)
|
rs1369746830
|
|
NM_020937.4(FANCM):c.3977C>T (p.Ser1326Phe)
|
|
|
NM_020937.4(FANCM):c.3989T>C (p.Leu1330Ser)
|
|
|
NM_020937.4(FANCM):c.398C>T (p.Pro133Leu)
|
rs139382920
|
|
NM_020937.4(FANCM):c.3995T>C (p.Val1332Ala)
|
|
|
NM_020937.4(FANCM):c.4016C>T (p.Thr1339Ile)
|
|
|
NM_020937.4(FANCM):c.4027A>G (p.Lys1343Glu)
|
rs2139253150
|
|
NM_020937.4(FANCM):c.4030T>C (p.Ser1344Pro)
|
rs1888737260
|
|
NM_020937.4(FANCM):c.403G>A (p.Gly135Arg)
|
rs1594750987
|
|
NM_020937.4(FANCM):c.4045T>A (p.Ser1349Thr)
|
|
|
NM_020937.4(FANCM):c.4054A>G (p.Lys1352Glu)
|
rs1888737946
|
|
NM_020937.4(FANCM):c.4057A>T (p.Ile1353Leu)
|
|
|
NM_020937.4(FANCM):c.4061G>A (p.Arg1354Lys)
|
rs1302733474
|
|
NM_020937.4(FANCM):c.4069A>G (p.Ile1357Val)
|
rs1555365093
|
|
NM_020937.4(FANCM):c.4073T>C (p.Leu1358Pro)
|
|
|
NM_020937.4(FANCM):c.4084G>T (p.Asp1362Tyr)
|
|
|
NM_020937.4(FANCM):c.4088C>G (p.Ser1363Cys)
|
|
|
NM_020937.4(FANCM):c.4090A>G (p.Ser1364Gly)
|
|
|
NM_020937.4(FANCM):c.4096G>A (p.Glu1366Lys)
|
rs2139253441
|
|
NM_020937.4(FANCM):c.4103T>C (p.Val1368Ala)
|
rs958088496
|
|
NM_020937.4(FANCM):c.4115G>T (p.Arg1372Ile)
|
rs1888742620
|
|
NM_020937.4(FANCM):c.4121A>G (p.Lys1374Arg)
|
rs1888743641
|
|
NM_020937.4(FANCM):c.4132A>C (p.Asn1378His)
|
rs1594800247
|
|
NM_020937.4(FANCM):c.4143T>G (p.Phe1381Leu)
|
rs2139253752
|
|
NM_020937.4(FANCM):c.4145A>G (p.Asp1382Gly)
|
rs2139253766
|
|
NM_020937.4(FANCM):c.4145A>T (p.Asp1382Val)
|
|
|
NM_020937.4(FANCM):c.4148A>G (p.Tyr1383Cys)
|
|
|
NM_020937.4(FANCM):c.4162C>G (p.Leu1388Val)
|
rs769653358
|
|
NM_020937.4(FANCM):c.4163T>C (p.Leu1388Pro)
|
|
|
NM_020937.4(FANCM):c.4174A>G (p.Lys1392Glu)
|
|
|
NM_020937.4(FANCM):c.4184G>T (p.Gly1395Val)
|
rs1203349245
|
|
NM_020937.4(FANCM):c.4187_4189dup (p.Pro1396_Met1397insThr)
|
rs1888747763
|
|
NM_020937.4(FANCM):c.419T>C (p.Met140Thr)
|
rs1885514534
|
|
NM_020937.4(FANCM):c.420G>A (p.Met140Ile)
|
rs1329485751
|
|
NM_020937.4(FANCM):c.4222+4A>C
|
|
|
NM_020937.4(FANCM):c.4223A>G (p.Asp1408Gly)
|
|
|
NM_020937.4(FANCM):c.4223A>T (p.Asp1408Val)
|
|
|
NM_020937.4(FANCM):c.4225G>A (p.Gly1409Arg)
|
|
|
NM_020937.4(FANCM):c.4231TTA[1] (p.Leu1412del)
|
rs1889061790
|
|
NM_020937.4(FANCM):c.4246G>A (p.Glu1416Lys)
|
|
|
NM_020937.4(FANCM):c.424C>A (p.Pro142Thr)
|
|
|
NM_020937.4(FANCM):c.4261G>A (p.Glu1421Lys)
|
rs886050502
|
|
NM_020937.4(FANCM):c.4274G>A (p.Arg1425Lys)
|
rs2139270169
|
|
NM_020937.4(FANCM):c.4277A>G (p.Lys1426Arg)
|
|
|
NM_020937.4(FANCM):c.427A>G (p.Thr143Ala)
|
|
|
NM_020937.4(FANCM):c.4318G>A (p.Asp1440Asn)
|
|
|
NM_020937.4(FANCM):c.4319A>G (p.Asp1440Gly)
|
rs2139270979
|
|
NM_020937.4(FANCM):c.431A>C (p.Lys144Thr)
|
|
|
NM_020937.4(FANCM):c.4320T>G (p.Asp1440Glu)
|
rs2139270994
|
|
NM_020937.4(FANCM):c.4342T>A (p.Ser1448Thr)
|
|
|
NM_020937.4(FANCM):c.4346C>T (p.Pro1449Leu)
|
|
|
NM_020937.4(FANCM):c.4348C>T (p.Leu1450Phe)
|
|
|
NM_020937.4(FANCM):c.4352A>T (p.His1451Leu)
|
rs572890751
|
|
NM_020937.4(FANCM):c.4353T>A (p.His1451Gln)
|
|
|
NM_020937.4(FANCM):c.4360A>G (p.Lys1454Glu)
|
|
|
NM_020937.4(FANCM):c.4367G>T (p.Arg1456Leu)
|
rs749332566
|
|
NM_020937.4(FANCM):c.4383C>G (p.Asn1461Lys)
|
|
|
NM_020937.4(FANCM):c.4386+14A>G
|
|
|
NM_020937.4(FANCM):c.4386+16G>C
|
|
|
NM_020937.4(FANCM):c.4386+2dup
|
rs1889085424
|
|
NM_020937.4(FANCM):c.4387-5_4387-3del
|
rs1566775466
|
|
NM_020937.4(FANCM):c.4387-6T>C
|
rs1889209053
|
|
NM_020937.4(FANCM):c.4391A>G (p.Glu1464Gly)
|
rs1889210004
|
|
NM_020937.4(FANCM):c.4405G>T (p.Asp1469Tyr)
|
rs1889211661
|
|
NM_020937.4(FANCM):c.443C>T (p.Thr148Ile)
|
|
|
NM_020937.4(FANCM):c.4447G>C (p.Asp1483His)
|
rs1889215664
|
|
NM_020937.4(FANCM):c.4454A>G (p.Lys1485Arg)
|
rs2139278064
|
|
NM_020937.4(FANCM):c.4469A>G (p.Asn1490Ser)
|
|
|
NM_020937.4(FANCM):c.447_448delinsAG (p.Gln150Glu)
|
rs1885518528
|
|
NM_020937.4(FANCM):c.4480G>T (p.Gly1494Cys)
|
rs772085199
|
|
NM_020937.4(FANCM):c.4481G>A (p.Gly1494Asp)
|
rs1889220204
|
|
NM_020937.4(FANCM):c.4486A>G (p.Lys1496Glu)
|
|
|
NM_020937.4(FANCM):c.4489G>A (p.Val1497Ile)
|
rs369576101
|
|
NM_020937.4(FANCM):c.4493C>G (p.Pro1498Arg)
|
|
|
NM_020937.4(FANCM):c.4501C>A (p.Gln1501Lys)
|
rs755947203
|
|
NM_020937.4(FANCM):c.4515+4A>G
|
|
|
NM_020937.4(FANCM):c.4515+6C>A
|
|
|
NM_020937.4(FANCM):c.4517A>T (p.His1506Leu)
|
rs775457463
|
|
NM_020937.4(FANCM):c.4536A>C (p.Leu1512Phe)
|
|
|
NM_020937.4(FANCM):c.4545A>T (p.Glu1515Asp)
|
rs1889323052
|
|
NM_020937.4(FANCM):c.454G>A (p.Glu152Lys)
|
rs1885519043
|
|
NM_020937.4(FANCM):c.4552C>G (p.Leu1518Val)
|
|
|
NM_020937.4(FANCM):c.4552_4553insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGATGATGAAGCAGAAC (p.Glu1517_Leu1518insArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleMetArgSerGlyAspArgAspAspGluAlaGlu)
|
|
|
NM_020937.4(FANCM):c.4562A>T (p.Glu1521Val)
|
|
|
NM_020937.4(FANCM):c.4566T>G (p.Asp1522Glu)
|
rs375131983
|
|
NM_020937.4(FANCM):c.4568C>A (p.Ala1523Glu)
|
|
|
NM_020937.4(FANCM):c.4568C>G (p.Ala1523Gly)
|
rs960743288
|
|
NM_020937.4(FANCM):c.4573T>C (p.Tyr1525His)
|
|
|
NM_020937.4(FANCM):c.4576G>A (p.Val1526Ile)
|
rs982820875
|
|
NM_020937.4(FANCM):c.457G>C (p.Ala153Pro)
|
|
|
NM_020937.4(FANCM):c.4582T>G (p.Ser1528Ala)
|
rs1889328561
|
|
NM_020937.4(FANCM):c.4585G>A (p.Asp1529Asn)
|
rs1245071059
|
|
NM_020937.4(FANCM):c.4591A>G (p.Asn1531Asp)
|
|
|
NM_020937.4(FANCM):c.4593TGA[1] (p.Asp1532del)
|
|
|
NM_020937.4(FANCM):c.4594G>A (p.Asp1532Asn)
|
|
|
NM_020937.4(FANCM):c.4603G>C (p.Glu1535Gln)
|
|
|
NM_020937.4(FANCM):c.4619C>T (p.Ser1540Phe)
|
rs1889332251
|
|
NM_020937.4(FANCM):c.4641T>A (p.Asn1547Lys)
|
rs932577451
|
|
NM_020937.4(FANCM):c.4643A>G (p.Asp1548Gly)
|
|
|
NM_020937.4(FANCM):c.4645G>A (p.Glu1549Lys)
|
|
|
NM_020937.4(FANCM):c.4648A>T (p.Thr1550Ser)
|
|
|
NM_020937.4(FANCM):c.4651C>G (p.Gln1551Glu)
|
rs1889335215
|
|
NM_020937.4(FANCM):c.4654C>A (p.Leu1552Ile)
|
|
|
NM_020937.4(FANCM):c.4657T>G (p.Ser1553Ala)
|
rs2139284324
|
|
NM_020937.4(FANCM):c.4661A>G (p.Gln1554Arg)
|
|
|
NM_020937.4(FANCM):c.4664C>G (p.Ala1555Gly)
|
rs2139284354
|
|
NM_020937.4(FANCM):c.4666A>G (p.Ile1556Val)
|
|
|
NM_020937.4(FANCM):c.4668A>G (p.Ile1556Met)
|
|
|
NM_020937.4(FANCM):c.4672+6T>A
|
|
|
NM_020937.4(FANCM):c.4681A>G (p.Met1561Val)
|
rs2139291810
|
|
NM_020937.4(FANCM):c.4691T>C (p.Ile1564Thr)
|
rs1889499436
|
|
NM_020937.4(FANCM):c.46A>G (p.Ile16Val)
|
|
|
NM_020937.4(FANCM):c.4708C>A (p.Arg1570Ser)
|
rs139376041
|
|
NM_020937.4(FANCM):c.4709G>T (p.Arg1570Leu)
|
|
|
NM_020937.4(FANCM):c.4721T>G (p.Met1574Arg)
|
|
|
NM_020937.4(FANCM):c.4725C>G (p.Asn1575Lys)
|
|
|
NM_020937.4(FANCM):c.4739T>G (p.Met1580Arg)
|
rs1889503433
|
|
NM_020937.4(FANCM):c.4741A>G (p.Ile1581Val)
|
rs1649188416
|
|
NM_020937.4(FANCM):c.474_479del (p.Met158_Gly159del)
|
|
|
NM_020937.4(FANCM):c.4763T>C (p.Ile1588Thr)
|
rs2139292209
|
|
NM_020937.4(FANCM):c.476G>C (p.Gly159Ala)
|
|
|
NM_020937.4(FANCM):c.4771T>A (p.Phe1591Ile)
|
rs773152045
|
|
NM_020937.4(FANCM):c.4779+5_4779+9del
|
rs1889507289
|
|
NM_020937.4(FANCM):c.4779+6A>T
|
|
|
NM_020937.4(FANCM):c.4780-20T>G
|
|
|
NM_020937.4(FANCM):c.4780A>G (p.Ile1594Val)
|
|
|
NM_020937.4(FANCM):c.4805T>C (p.Leu1602Ser)
|
|
|
NM_020937.4(FANCM):c.4810G>T (p.Asp1604Tyr)
|
|
|
NM_020937.4(FANCM):c.4817T>C (p.Phe1606Ser)
|
|
|
NM_020937.4(FANCM):c.4821T>G (p.Cys1607Trp)
|
|
|
NM_020937.4(FANCM):c.4825G>A (p.Asp1609Asn)
|
|
|
NM_020937.4(FANCM):c.4850A>G (p.Gln1617Arg)
|
|
|
NM_020937.4(FANCM):c.4857T>A (p.Ser1619Arg)
|
rs1594814748
|
|
NM_020937.4(FANCM):c.4859A>G (p.Glu1620Gly)
|
rs2139295530
|
|
NM_020937.4(FANCM):c.4884C>A (p.Asn1628Lys)
|
rs1594814788
|
|
NM_020937.4(FANCM):c.4901_4902delinsTT (p.Cys1634Phe)
|
|
|
NM_020937.4(FANCM):c.4934G>C (p.Arg1645Pro)
|
|
|
NM_020937.4(FANCM):c.4943T>G (p.Met1648Arg)
|
rs766886760
|
|
NM_020937.4(FANCM):c.4951G>C (p.Glu1651Gln)
|
rs752279370
|
|
NM_020937.4(FANCM):c.4954A>G (p.Met1652Val)
|
|
|
NM_020937.4(FANCM):c.4972G>C (p.Ala1658Pro)
|
rs1889586772
|
|
NM_020937.4(FANCM):c.4979C>T (p.Ser1660Leu)
|
rs547959452
|
|
NM_020937.4(FANCM):c.4981A>G (p.Lys1661Glu)
|
rs1324848045
|
|
NM_020937.4(FANCM):c.4999ATT[1] (p.Ile1668del)
|
|
|
NM_020937.4(FANCM):c.5008C>T (p.Pro1670Ser)
|
rs1594814972
|
|
NM_020937.4(FANCM):c.5023GAG[2] (p.Glu1677del)
|
rs750497256
|
|
NM_020937.4(FANCM):c.5034C>A (p.Asn1678Lys)
|
|
|
NM_020937.4(FANCM):c.5041A>G (p.Asn1681Asp)
|
rs2139296522
|
|
NM_020937.4(FANCM):c.5044G>C (p.Asp1682His)
|
|
|
NM_020937.4(FANCM):c.5045A>C (p.Asp1682Ala)
|
rs2139296568
|
|
NM_020937.4(FANCM):c.5045A>G (p.Asp1682Gly)
|
|
|
NM_020937.4(FANCM):c.5046T>G (p.Asp1682Glu)
|
rs1302536129
|
|
NM_020937.4(FANCM):c.5059A>G (p.Asn1687Asp)
|
|
|
NM_020937.4(FANCM):c.505A>G (p.Thr169Ala)
|
|
|
NM_020937.4(FANCM):c.5062A>G (p.Ile1688Val)
|
|
|
NM_020937.4(FANCM):c.5068G>A (p.Val1690Ile)
|
rs752352756
|
|
NM_020937.4(FANCM):c.5068G>C (p.Val1690Leu)
|
rs752352756
|
|
NM_020937.4(FANCM):c.5072A>G (p.Asn1691Ser)
|
rs1594815120
|
|
NM_020937.4(FANCM):c.5078G>A (p.Ser1693Asn)
|
rs528554660
|
|
NM_020937.4(FANCM):c.508+3A>G
|
rs775341176
|
|
NM_020937.4(FANCM):c.508+5C>G
|
rs886050497
|
|
NM_020937.4(FANCM):c.5088GAA[1] (p.Lys1697del)
|
rs2139296928
|
|
NM_020937.4(FANCM):c.509-16T>C
|
|
|
NM_020937.4(FANCM):c.5095A>G (p.Lys1699Glu)
|
rs2139296999
|
|
NM_020937.4(FANCM):c.5096A>G (p.Lys1699Arg)
|
|
|
NM_020937.4(FANCM):c.5104G>C (p.Asp1702His)
|
|
|
NM_020937.4(FANCM):c.5104G>T (p.Asp1702Tyr)
|
rs1033212754
|
|
NM_020937.4(FANCM):c.5107C>G (p.His1703Asp)
|
rs367653310
|
|
NM_020937.4(FANCM):c.5107C>T (p.His1703Tyr)
|
|
|
NM_020937.4(FANCM):c.511T>C (p.Ser171Pro)
|
rs1885568109
|
|
NM_020937.4(FANCM):c.5120C>T (p.Ser1707Leu)
|
|
|
NM_020937.4(FANCM):c.5122G>T (p.Val1708Leu)
|
rs1566783242
|
|
NM_020937.4(FANCM):c.5141C>A (p.Ala1714Glu)
|
rs139383231
|
|
NM_020937.4(FANCM):c.5147C>T (p.Ser1716Phe)
|
|
|
NM_020937.4(FANCM):c.5149A>C (p.Lys1717Gln)
|
|
|
NM_020937.4(FANCM):c.5156G>T (p.Arg1719Leu)
|
rs760421586
|
|
NM_020937.4(FANCM):c.5177C>G (p.Pro1726Arg)
|
|
|
NM_020937.4(FANCM):c.5185A>G (p.Lys1729Glu)
|
|
|
NM_020937.4(FANCM):c.5197C>G (p.Gln1733Glu)
|
rs374587255
|
|
NM_020937.4(FANCM):c.5200A>G (p.Thr1734Ala)
|
rs756631911
|
|
NM_020937.4(FANCM):c.5233G>A (p.Val1745Ile)
|
|
|
NM_020937.4(FANCM):c.5237C>T (p.Ser1746Leu)
|
rs1889613187
|
|
NM_020937.4(FANCM):c.5239G>C (p.Asp1747His)
|
|
|
NM_020937.4(FANCM):c.5249C>T (p.Pro1750Leu)
|
|
|
NM_020937.4(FANCM):c.5260A>T (p.Asn1754Tyr)
|
|
|
NM_020937.4(FANCM):c.526A>C (p.Thr176Pro)
|
|
|
NM_020937.4(FANCM):c.5270A>G (p.Gln1757Arg)
|
|
|
NM_020937.4(FANCM):c.5281C>G (p.Pro1761Ala)
|
rs540327722
|
|
NM_020937.4(FANCM):c.5282C>T (p.Pro1761Leu)
|
rs1395216158
|
|
NM_020937.4(FANCM):c.5285C>G (p.Pro1762Arg)
|
rs747356020
|
|
NM_020937.4(FANCM):c.5290A>G (p.Thr1764Ala)
|
rs776417170
|
|
NM_020937.4(FANCM):c.5291C>T (p.Thr1764Ile)
|
rs1889619711
|
|
NM_020937.4(FANCM):c.5293A>G (p.Thr1765Ala)
|
rs1386457912
|
|
NM_020937.4(FANCM):c.5297T>C (p.Val1766Ala)
|
rs368109537
|
|
NM_020937.4(FANCM):c.5305C>G (p.Gln1769Glu)
|
rs1277570500
|
|
NM_020937.4(FANCM):c.5313C>A (p.Asp1771Glu)
|
|
|
NM_020937.4(FANCM):c.5318G>C (p.Arg1773Thr)
|
rs1594815624
|
|
NM_020937.4(FANCM):c.5327C>T (p.Pro1776Leu)
|
|
|
NM_020937.4(FANCM):c.5333C>T (p.Pro1778Leu)
|
rs1212903067
|
|
NM_020937.4(FANCM):c.5340+4T>C
|
|
|
NM_020937.4(FANCM):c.5340delinsTGGAATCACT (p.Lys1780delinsAsnGlyIleThr)
|
rs1889624694
|
|
NM_020937.4(FANCM):c.5341-3C>T
|
rs1890043451
|
|
NM_020937.4(FANCM):c.5348G>A (p.Ser1783Asn)
|
rs997324391
|
|
NM_020937.4(FANCM):c.5353T>G (p.Leu1785Val)
|
rs755563315
|
|
NM_020937.4(FANCM):c.5372C>T (p.Ser1791Leu)
|
|
|
NM_020937.4(FANCM):c.5375G>A (p.Gly1792Glu)
|
|
|
NM_020937.4(FANCM):c.5387C>G (p.Ser1796Cys)
|
|
|
NM_020937.4(FANCM):c.5387C>T (p.Ser1796Phe)
|
rs1275681669
|
|
NM_020937.4(FANCM):c.5396G>T (p.Arg1799Ile)
|
rs996654030
|
|
NM_020937.4(FANCM):c.539T>C (p.Ile180Thr)
|
rs2139106376
|
|
NM_020937.4(FANCM):c.541T>C (p.Trp181Arg)
|
rs1885571765
|
|
NM_020937.4(FANCM):c.5432T>A (p.Leu1811His)
|
|
|
NM_020937.4(FANCM):c.5434C>A (p.Pro1812Thr)
|
rs3736772
|
|
NM_020937.4(FANCM):c.543G>T (p.Trp181Cys)
|
rs749507878
|
|
NM_020937.4(FANCM):c.5443G>A (p.Gly1815Arg)
|
rs766516817
|
|
NM_020937.4(FANCM):c.5444G>A (p.Gly1815Glu)
|
|
|
NM_020937.4(FANCM):c.5447A>G (p.Lys1816Arg)
|
rs2139319399
|
|
NM_020937.4(FANCM):c.5449G>A (p.Gly1817Arg)
|
|
|
NM_020937.4(FANCM):c.5452A>G (p.Thr1818Ala)
|
|
|
NM_020937.4(FANCM):c.5453C>T (p.Thr1818Ile)
|
|
|
NM_020937.4(FANCM):c.5456G>A (p.Cys1819Tyr)
|
|
|
NM_020937.4(FANCM):c.546C>T (p.Cys182=)
|
|
|
NM_020937.4(FANCM):c.5478A>C (p.Glu1826Asp)
|
rs1890053191
|
|
NM_020937.4(FANCM):c.548G>A (p.Ser183Asn)
|
rs961990525
|
|
NM_020937.4(FANCM):c.5504C>T (p.Ser1835Phe)
|
|
|
NM_020937.4(FANCM):c.5513G>A (p.Arg1838Lys)
|
|
|
NM_020937.4(FANCM):c.5532A>T (p.Gln1844His)
|
|
|
NM_020937.4(FANCM):c.5539G>T (p.Val1847Phe)
|
|
|
NM_020937.4(FANCM):c.5568C>G (p.Ile1856Met)
|
|
|
NM_020937.4(FANCM):c.5578C>G (p.Arg1860Gly)
|
rs139996409
|
|
NM_020937.4(FANCM):c.5584G>A (p.Val1862Met)
|
rs1280753248
|
|
NM_020937.4(FANCM):c.5598G>T (p.Arg1866Ser)
|
|
|
NM_020937.4(FANCM):c.5600C>T (p.Ser1867Phe)
|
|
|
NM_020937.4(FANCM):c.5605T>C (p.Ser1869Pro)
|
rs1890063101
|
|
NM_020937.4(FANCM):c.5608G>A (p.Glu1870Lys)
|
|
|
NM_020937.4(FANCM):c.5612T>C (p.Met1871Thr)
|
|
|
NM_020937.4(FANCM):c.5613G>A (p.Met1871Ile)
|
rs1890063687
|
|
NM_020937.4(FANCM):c.5624T>C (p.Val1875Ala)
|
|
|
NM_020937.4(FANCM):c.5658C>G (p.His1886Gln)
|
rs1364697360
|
|
NM_020937.4(FANCM):c.5667T>G (p.Ser1889Arg)
|
|
|
NM_020937.4(FANCM):c.5669T>C (p.Met1890Thr)
|
rs1392653043
|
|
NM_020937.4(FANCM):c.5672T>C (p.Phe1891Ser)
|
rs1890067683
|
|
NM_020937.4(FANCM):c.5679A>T (p.Arg1893Ser)
|
rs750143582
|
|
NM_020937.4(FANCM):c.5680A>G (p.Ile1894Val)
|
|
|
NM_020937.4(FANCM):c.5682A>G (p.Ile1894Met)
|
|
|
NM_020937.4(FANCM):c.5692G>A (p.Val1898Met)
|
|
|
NM_020937.4(FANCM):c.5692G>T (p.Val1898Leu)
|
|
|
NM_020937.4(FANCM):c.569C>G (p.Thr190Arg)
|
|
|
NM_020937.4(FANCM):c.5713A>G (p.Thr1905Ala)
|
|
|
NM_020937.4(FANCM):c.5716+5G>A
|
|
|
NM_020937.4(FANCM):c.5716+6T>C
|
|
|
NM_020937.4(FANCM):c.5729G>C (p.Arg1910Thr)
|
rs1193767487
|
|
NM_020937.4(FANCM):c.572C>T (p.Pro191Leu)
|
rs1555358635
|
|
NM_020937.4(FANCM):c.5732T>A (p.Met1911Lys)
|
rs1346827067
|
|
NM_020937.4(FANCM):c.5741G>A (p.Arg1914Lys)
|
rs1890202191
|
|
NM_020937.4(FANCM):c.5744C>A (p.Thr1915Lys)
|
rs2139328014
|
|
NM_020937.4(FANCM):c.5747A>G (p.Lys1916Arg)
|
rs908307807
|
|
NM_020937.4(FANCM):c.5750G>A (p.Ser1917Asn)
|
|
|
NM_020937.4(FANCM):c.5771C>T (p.Thr1924Ile)
|
|
|
NM_020937.4(FANCM):c.577G>T (p.Val193Phe)
|
|
|
NM_020937.4(FANCM):c.5783C>A (p.Ala1928Asp)
|
|
|
NM_020937.4(FANCM):c.5805T>A (p.Ser1935Arg)
|
rs1890206867
|
|
NM_020937.4(FANCM):c.5806T>A (p.Ser1936Thr)
|
|
|
NM_020937.4(FANCM):c.5816A>G (p.Glu1939Gly)
|
rs1890207596
|
|
NM_020937.4(FANCM):c.5821A>C (p.Thr1941Pro)
|
rs2139328515
|
|
NM_020937.4(FANCM):c.5824G>T (p.Ala1942Ser)
|
rs759078220
|
|
NM_020937.4(FANCM):c.5828A>G (p.Asp1943Gly)
|
|
|
NM_020937.4(FANCM):c.582G>A (p.Met194Ile)
|
|
|
NM_020937.4(FANCM):c.5839G>C (p.Glu1947Gln)
|
rs1890209507
|
|
NM_020937.4(FANCM):c.583G>A (p.Val195Ile)
|
|
|
NM_020937.4(FANCM):c.5843T>A (p.Leu1948Gln)
|
|
|
NM_020937.4(FANCM):c.5864A>T (p.Lys1955Met)
|
|
|
NM_020937.4(FANCM):c.5870T>C (p.Val1957Ala)
|
rs1890211851
|
|
NM_020937.4(FANCM):c.5872G>T (p.Gly1958Cys)
|
rs1441113303
|
|
NM_020937.4(FANCM):c.5875A>G (p.Ile1959Val)
|
|
|
NM_020937.4(FANCM):c.5879A>G (p.His1960Arg)
|
|
|
NM_020937.4(FANCM):c.5888C>A (p.Thr1963Lys)
|
|
|
NM_020937.4(FANCM):c.5890GTG[1] (p.Val1965del)
|
rs769106934
|
|
NM_020937.4(FANCM):c.5901TAA[1] (p.Asn1968del)
|
rs1890214050
|
|
NM_020937.4(FANCM):c.5903A>G (p.Asn1968Ser)
|
|
|
NM_020937.4(FANCM):c.5910T>G (p.Ser1970Arg)
|
rs2139329050
|
|
NM_020937.4(FANCM):c.5914G>A (p.Ala1972Thr)
|
rs2139329078
|
|
NM_020937.4(FANCM):c.5927A>G (p.Tyr1976Cys)
|
rs1594486279
|
|
NM_020937.4(FANCM):c.5965A>C (p.Asn1989His)
|
|
|
NM_020937.4(FANCM):c.5989G>C (p.Val1997Leu)
|
rs1890218222
|
|
NM_020937.4(FANCM):c.5997G>C (p.Arg1999Ser)
|
rs1890218564
|
|
NM_020937.4(FANCM):c.6008+1G>A
|
rs984955481
|
|
NM_020937.4(FANCM):c.6008+4T>C
|
|
|
NM_020937.4(FANCM):c.6010T>A (p.Ser2004Thr)
|
rs760258217
|
|
NM_020937.4(FANCM):c.6010T>C (p.Ser2004Pro)
|
|
|
NM_020937.4(FANCM):c.6016C>A (p.Gln2006Lys)
|
|
|
NM_020937.4(FANCM):c.6019G>A (p.Glu2007Lys)
|
rs1890266228
|
|
NM_020937.4(FANCM):c.6026C>A (p.Ser2009Tyr)
|
|
|
NM_020937.4(FANCM):c.6028A>G (p.Met2010Val)
|
rs776577985
|
|
NM_020937.4(FANCM):c.6030G>A (p.Met2010Ile)
|
rs1890267290
|
|
NM_020937.4(FANCM):c.6038A>G (p.Gln2013Arg)
|
|
|
NM_020937.4(FANCM):c.6055G>C (p.Ala2019Pro)
|
rs1890268255
|
|
NM_020937.4(FANCM):c.6058GAG[1] (p.Glu2021del)
|
rs770012987
|
|
NM_020937.4(FANCM):c.605C>T (p.Ala202Val)
|
rs1885579524
|
|
NM_020937.4(FANCM):c.6061G>A (p.Glu2021Lys)
|
|
|
NM_020937.4(FANCM):c.6065T>G (p.Ile2022Ser)
|
rs2139331987
|
|
NM_020937.4(FANCM):c.6066C>G (p.Ile2022Met)
|
rs2139331995
|
|
NM_020937.4(FANCM):c.6071_6076del (p.Arg2024_Tyr2025del)
|
rs773456844
|
|
NM_020937.4(FANCM):c.6075T>A (p.Tyr2025Ter)
|
|
|
NM_020937.4(FANCM):c.6075T>G (p.Tyr2025Ter)
|
|
|
NM_020937.4(FANCM):c.6092A>G (p.Asp2031Gly)
|
|
|
NM_020937.4(FANCM):c.6095T>A (p.Ile2032Lys)
|
|
|
NM_020937.4(FANCM):c.6102G>A (p.Met2034Ile)
|
rs1890272153
|
|
NM_020937.4(FANCM):c.6122_6125del (p.Gln2041fs)
|
|
|
NM_020937.4(FANCM):c.6137C>A (p.Ser2046Tyr)
|
|
|
NM_020937.4(FANCM):c.6140_*8del (p.Asp2047fs)
|
rs1594488249
|
|
NM_020937.4(FANCM):c.6143del (p.Ile2048fs)
|
|
|
NM_020937.4(FANCM):c.620A>T (p.Glu207Val)
|
rs1885580819
|
|
NM_020937.4(FANCM):c.625A>C (p.Lys209Gln)
|
rs1555358657
|
|
NM_020937.4(FANCM):c.632T>C (p.Leu211Ser)
|
rs2139107015
|
|
NM_020937.4(FANCM):c.642T>A (p.Asp214Glu)
|
rs1885582744
|
|
NM_020937.4(FANCM):c.645A>T (p.Glu215Asp)
|
rs1215370736
|
|
NM_020937.4(FANCM):c.656C>T (p.Ala219Val)
|
rs1566718197
|
|
NM_020937.4(FANCM):c.661G>A (p.Gly221Arg)
|
|
|
NM_020937.4(FANCM):c.668A>G (p.Tyr223Cys)
|
rs1594751903
|
|
NM_020937.4(FANCM):c.682-5T>G
|
|
|
NM_020937.4(FANCM):c.684T>G (p.Val228=)
|
rs1885848310
|
|
NM_020937.4(FANCM):c.695T>A (p.Leu232Gln)
|
rs2139118252
|
|
NM_020937.4(FANCM):c.698T>C (p.Val233Ala)
|
rs1885849616
|
|
NM_020937.4(FANCM):c.70G>C (p.Gly24Arg)
|
|
|
NM_020937.4(FANCM):c.710A>G (p.Asn237Ser)
|
rs760977059
|
|
NM_020937.4(FANCM):c.717T>G (p.Phe239Leu)
|
rs1365220972
|
|
NM_020937.4(FANCM):c.71G>T (p.Gly24Val)
|
rs1885468827
|
|
NM_020937.4(FANCM):c.730C>G (p.Leu244Val)
|
rs376357342
|
|
NM_020937.4(FANCM):c.734G>A (p.Ser245Asn)
|
|
|
NM_020937.4(FANCM):c.736G>A (p.Ala246Thr)
|
rs2139118418
|
|
NM_020937.4(FANCM):c.746G>C (p.Gly249Ala)
|
rs965199350
|
|
NM_020937.4(FANCM):c.748A>G (p.Ser250Gly)
|
rs2139118486
|
|
NM_020937.4(FANCM):c.759+2dup
|
rs1885856344
|
|
NM_020937.4(FANCM):c.760-4A>G
|
rs1886615518
|
|
NM_020937.4(FANCM):c.760-6A>G
|
rs2139151266
|
|
NM_020937.4(FANCM):c.760G>A (p.Ala254Thr)
|
|
|
NM_020937.4(FANCM):c.760G>T (p.Ala254Ser)
|
|
|
NM_020937.4(FANCM):c.778A>G (p.Thr260Ala)
|
rs1886617707
|
|
NM_020937.4(FANCM):c.787C>A (p.Leu263Ile)
|
rs1594766754
|
|
NM_020937.4(FANCM):c.790A>G (p.Ile264Val)
|
|
|
NM_020937.4(FANCM):c.799A>G (p.Ile267Val)
|
|
|
NM_020937.4(FANCM):c.80C>T (p.Ser27Phe)
|
rs1885469771
|
|
NM_020937.4(FANCM):c.815A>T (p.Glu272Val)
|
rs1456725108
|
|
NM_020937.4(FANCM):c.818A>T (p.Asp273Val)
|
|
|
NM_020937.4(FANCM):c.821C>A (p.Ser274Tyr)
|
|
|
NM_020937.4(FANCM):c.830T>C (p.Ile277Thr)
|
|
|
NM_020937.4(FANCM):c.836C>T (p.Thr279Ile)
|
rs556857964
|
|
NM_020937.4(FANCM):c.83G>T (p.Gly28Val)
|
rs1885470299
|
|
NM_020937.4(FANCM):c.844C>T (p.His282Tyr)
|
rs955969135
|
|
NM_020937.4(FANCM):c.845A>C (p.His282Pro)
|
|
|
NM_020937.4(FANCM):c.851G>A (p.Arg284Lys)
|
rs1886623846
|
|
NM_020937.4(FANCM):c.853A>G (p.Lys285Glu)
|
rs1428587779
|
|
NM_020937.4(FANCM):c.865C>G (p.Leu289Val)
|
rs1594766833
|
|
NM_020937.4(FANCM):c.866T>C (p.Leu289Pro)
|
rs1594766838
|
|
NM_020937.4(FANCM):c.871G>A (p.Val291Ile)
|
rs1566732276
|
|
NM_020937.4(FANCM):c.874C>A (p.Pro292Thr)
|
rs142747831
|
|
NM_020937.4(FANCM):c.877C>T (p.Leu293Phe)
|
rs1886627288
|
|
NM_020937.4(FANCM):c.893C>T (p.Ala298Val)
|
rs1316547284
|
|
NM_020937.4(FANCM):c.908C>A (p.Thr303Asn)
|
rs980293400
|
|
NM_020937.4(FANCM):c.920T>C (p.Ile307Thr)
|
rs2139159942
|
|
NM_020937.4(FANCM):c.937C>T (p.Arg313Cys)
|
rs372710600
|
|
NM_020937.4(FANCM):c.938G>T (p.Arg313Leu)
|
rs767487612
|
|
NM_020937.4(FANCM):c.941C>G (p.Ser314Cys)
|
rs774801698
|
|
NM_020937.4(FANCM):c.956A>G (p.Asn319Ser)
|
|
|
NM_020937.4(FANCM):c.958G>A (p.Val320Ile)
|
|
|
NM_020937.4(FANCM):c.95C>T (p.Pro32Leu)
|
|
|
NM_020937.4(FANCM):c.964A>T (p.Met322Leu)
|
rs1886810282
|
|
NM_020937.4(FANCM):c.971G>C (p.Arg324Thr)
|
rs2139160191
|
|
NM_020937.4(FANCM):c.972G>C (p.Arg324Ser)
|
rs1886810472
|
|
NM_020937.4(FANCM):c.989C>T (p.Thr330Ile)
|
rs759774206
|
|
NM_020937.4(FANCM):c.98A>C (p.Gln33Pro)
|
|
|
NM_020937.4(FANCM):c.991A>G (p.Lys331Glu)
|
|
|
NM_020937.4(FANCM):c.998A>G (p.Gln333Arg)
|
rs922819033
|
|
NM_021023.6(CFHR3):c.839_840del (p.Ile280fs)
|
rs781400776
|
|
NM_021023.6(CFHR3):c.952_953insGGAA (p.Val318fs)
|
|
|
NM_021922.3(FANCE):c.*225T>C
|
rs1767848319
|
|
NM_021922.3(FANCE):c.*63C>T
|
rs1767839821
|
|
NM_021922.3(FANCE):c.*729A>G
|
rs886061334
|
|
NM_021922.3(FANCE):c.-162G>C
|
rs979441521
|
|
NM_021922.3(FANCE):c.-182G>A
|
rs886061324
|
|
NM_021922.3(FANCE):c.-2_13del (p.Met1_Asp5del)
|
rs2150885287
|
|
NM_021922.3(FANCE):c.-32A>T
|
rs1767142098
|
|
NM_021922.3(FANCE):c.1007T>C (p.Leu336Pro)
|
rs886061330
|
|
NM_021922.3(FANCE):c.1014C>A (p.Asp338Glu)
|
|
|
NM_021922.3(FANCE):c.1018G>A (p.Gly340Ser)
|
|
|
NM_021922.3(FANCE):c.1031T>A (p.Leu344His)
|
rs2150894790
|
|
NM_021922.3(FANCE):c.1036A>C (p.Thr346Pro)
|
rs1767436675
|
|
NM_021922.3(FANCE):c.1043T>C (p.Leu348Pro)
|
|
|
NM_021922.3(FANCE):c.1049C>A (p.Ala350Asp)
|
|
|
NM_021922.3(FANCE):c.1051C>G (p.Leu351Val)
|
|
|
NM_021922.3(FANCE):c.1057C>G (p.Pro353Ala)
|
rs878855070
|
|
NM_021922.3(FANCE):c.1058C>T (p.Pro353Leu)
|
rs587778339
|
|
NM_021922.3(FANCE):c.1066A>G (p.Ser356Gly)
|
rs1767439057
|
|
NM_021922.3(FANCE):c.1076A>G (p.Asn359Ser)
|
|
|
NM_021922.3(FANCE):c.1094G>A (p.Arg365Lys)
|
rs1767440781
|
|
NM_021922.3(FANCE):c.1113+6T>C
|
rs764119752
|
|
NM_021922.3(FANCE):c.1114-3T>C
|
|
|
NM_021922.3(FANCE):c.1120T>C (p.Ser374Pro)
|
rs113175592
|
|
NM_021922.3(FANCE):c.1136C>G (p.Ala379Gly)
|
rs1233194875
|
|
NM_021922.3(FANCE):c.1139C>T (p.Ser380Phe)
|
|
|
NM_021922.3(FANCE):c.1141C>G (p.Arg381Gly)
|
|
|
NM_021922.3(FANCE):c.1145T>C (p.Leu382Pro)
|
rs2150896332
|
|
NM_021922.3(FANCE):c.1189C>G (p.Pro397Ala)
|
rs759782690
|
|
NM_021922.3(FANCE):c.118G>C (p.Ala40Pro)
|
rs2150885696
|
|
NM_021922.3(FANCE):c.1195T>G (p.Cys399Gly)
|
|
|
NM_021922.3(FANCE):c.1204C>T (p.Leu402Phe)
|
rs1256696675
|
|
NM_021922.3(FANCE):c.121C>T (p.Arg41Trp)
|
rs1767153896
|
|
NM_021922.3(FANCE):c.1232G>A (p.Gly411Asp)
|
rs1767499219
|
|
NM_021922.3(FANCE):c.1237G>A (p.Gly413Ser)
|
rs757769907
|
|
NM_021922.3(FANCE):c.1254G>C (p.Glu418Asp)
|
|
|
NM_021922.3(FANCE):c.1260_1268del (p.Cys421_Leu423del)
|
rs2150897160
|
|
NM_021922.3(FANCE):c.1262G>A (p.Cys421Tyr)
|
rs936988373
|
|
NM_021922.3(FANCE):c.1263T>C (p.Cys421=)
|
rs747692546
|
|
NM_021922.3(FANCE):c.1270G>T (p.Val424Leu)
|
rs2150897194
|
|
NM_021922.3(FANCE):c.1276A>G (p.Met426Val)
|
rs764652720
|
|
NM_021922.3(FANCE):c.127G>A (p.Gly43Ser)
|
rs892819655
|
|
NM_021922.3(FANCE):c.1283C>G (p.Ser428Cys)
|
|
|
NM_021922.3(FANCE):c.128G>T (p.Gly43Val)
|
rs1767154137
|
|
NM_021922.3(FANCE):c.1297G>A (p.Ala433Thr)
|
|
|
NM_021922.3(FANCE):c.1313T>G (p.Leu438Arg)
|
rs2150897316
|
|
NM_021922.3(FANCE):c.1319A>G (p.Gln440Arg)
|
|
|
NM_021922.3(FANCE):c.1336T>C (p.Trp446Arg)
|
rs1554122137
|
|
NM_021922.3(FANCE):c.1343A>C (p.Glu448Ala)
|
rs2150898436
|
|
NM_021922.3(FANCE):c.134G>A (p.Gly45Glu)
|
|
|
NM_021922.3(FANCE):c.134G>T (p.Gly45Val)
|
|
|
NM_021922.3(FANCE):c.1353C>G (p.Phe451Leu)
|
|
|
NM_021922.3(FANCE):c.1357G>T (p.Val453Leu)
|
|
|
NM_021922.3(FANCE):c.1372C>G (p.Leu458Val)
|
|
|
NM_021922.3(FANCE):c.1378C>T (p.Arg460Trp)
|
rs200535245
|
|
NM_021922.3(FANCE):c.1379G>A (p.Arg460Gln)
|
|
|
NM_021922.3(FANCE):c.1379G>T (p.Arg460Leu)
|
rs541746126
|
|
NM_021922.3(FANCE):c.1383+6C>G
|
rs763606597
|
|
NM_021922.3(FANCE):c.1390A>G (p.Met464Val)
|
|
|
NM_021922.3(FANCE):c.1392G>T (p.Met464Ile)
|
rs759978029
|
|
NM_021922.3(FANCE):c.1394C>T (p.Thr465Ile)
|
rs1767643426
|
|
NM_021922.3(FANCE):c.139C>T (p.Leu47Phe)
|
|
|
NM_021922.3(FANCE):c.1404G>T (p.Lys468Asn)
|
|
|
NM_021922.3(FANCE):c.1432A>G (p.Lys478Glu)
|
rs1242729665
|
|
NM_021922.3(FANCE):c.1459A>G (p.Met487Val)
|
rs373735272
|
|
NM_021922.3(FANCE):c.145G>C (p.Ala49Pro)
|
rs1225225979
|
|
NM_021922.3(FANCE):c.1466A>T (p.Tyr489Phe)
|
rs1345207143
|
|
NM_021922.3(FANCE):c.1478T>C (p.Met493Thr)
|
rs979790377
|
|
NM_021922.3(FANCE):c.1484C>T (p.Thr495Ile)
|
rs1442055811
|
|
NM_021922.3(FANCE):c.1486G>A (p.Val496Met)
|
rs2150901627
|
|
NM_021922.3(FANCE):c.1497G>C (p.Lys499Asn)
|
rs2150901647
|
|
NM_021922.3(FANCE):c.149T>C (p.Leu50Pro)
|
rs1767156443
|
|
NM_021922.3(FANCE):c.14A>T (p.Asp5Val)
|
rs1767146702
|
|
NM_021922.3(FANCE):c.1501C>T (p.Gln501Ter)
|
rs746321808
|
|
NM_021922.3(FANCE):c.1507A>T (p.Asn503Tyr)
|
rs2150901658
|
|
NM_021922.3(FANCE):c.1509+3G>A
|
rs773938335
|
|
NM_021922.3(FANCE):c.1519A>G (p.Thr507Ala)
|
|
|
NM_021922.3(FANCE):c.1528C>G (p.Leu510Val)
|
|
|
NM_021922.3(FANCE):c.1531G>T (p.Gly511Cys)
|
|
|
NM_021922.3(FANCE):c.1556A>C (p.Asn519Thr)
|
rs373712711
|
|
NM_021922.3(FANCE):c.157C>T (p.Arg53Cys)
|
|
|
NM_021922.3(FANCE):c.1582A>C (p.Lys528Gln)
|
rs767896075
|
|
NM_021922.3(FANCE):c.1593G>A (p.Leu531=)
|
rs886061332
|
|
NM_021922.3(FANCE):c.1594A>T (p.Lys532Ter)
|
|
|
NM_021922.3(FANCE):c.1598A>T (p.His533Leu)
|
|
|
NM_021922.3(FANCE):c.15_16delinsAC (p.Asp5_Ala6delinsGluPro)
|
|
|
NM_021922.3(FANCE):c.1606C>G (p.Pro536Ala)
|
rs1060501873
|
|
NM_021922.3(FANCE):c.1607C>G (p.Pro536Arg)
|
rs1767835596
|
|
NM_021922.3(FANCE):c.1608_1609del (p.Ter537ThrextTer?)
|
rs1767835895
|
|
NM_021922.3(FANCE):c.169C>A (p.Pro57Thr)
|
rs1561787173
|
|
NM_021922.3(FANCE):c.169C>T (p.Pro57Ser)
|
rs1561787173
|
|
NM_021922.3(FANCE):c.175G>T (p.Asp59Tyr)
|
rs1581696567
|
|
NM_021922.3(FANCE):c.181G>C (p.Gly61Arg)
|
rs2150885964
|
|
NM_021922.3(FANCE):c.189G>T (p.Leu63Phe)
|
rs2150885989
|
|
NM_021922.3(FANCE):c.200T>C (p.Leu67Pro)
|
rs1767159493
|
|
NM_021922.3(FANCE):c.221T>C (p.Val74Ala)
|
|
|
NM_021922.3(FANCE):c.224A>C (p.Gln75Pro)
|
rs1309426375
|
|
NM_021922.3(FANCE):c.229C>T (p.Pro77Ser)
|
rs587778335
|
|
NM_021922.3(FANCE):c.22C>T (p.Leu8Phe)
|
|
|
NM_021922.3(FANCE):c.239G>A (p.Arg80His)
|
rs1243363612
|
|
NM_021922.3(FANCE):c.248T>C (p.Leu83Pro)
|
rs1767163490
|
|
NM_021922.3(FANCE):c.249G>T (p.Leu83=)
|
|
|
NM_021922.3(FANCE):c.256C>G (p.Leu86Val)
|
|
|
NM_021922.3(FANCE):c.257T>C (p.Leu86Pro)
|
|
|
NM_021922.3(FANCE):c.25C>A (p.Pro9Thr)
|
rs956659254
|
|
NM_021922.3(FANCE):c.25C>T (p.Pro9Ser)
|
|
|
NM_021922.3(FANCE):c.266G>A (p.Arg89Gln)
|
rs45600543
|
|
NM_021922.3(FANCE):c.266G>C (p.Arg89Pro)
|
rs45600543
|
|
NM_021922.3(FANCE):c.277A>T (p.Ile93Leu)
|
rs1767301656
|
|
NM_021922.3(FANCE):c.291C>A (p.Asn97Lys)
|
|
|
NM_021922.3(FANCE):c.29G>A (p.Gly10Glu)
|
|
|
NM_021922.3(FANCE):c.2T>C (p.Met1Thr)
|
rs1462766132
|
|
NM_021922.3(FANCE):c.313G>A (p.Val105Ile)
|
rs373159305
|
|
NM_021922.3(FANCE):c.313G>C (p.Val105Leu)
|
rs373159305
|
|
NM_021922.3(FANCE):c.36G>T (p.Glu12Asp)
|
|
|
NM_021922.3(FANCE):c.371A>G (p.Asp124Gly)
|
|
|
NM_021922.3(FANCE):c.379C>G (p.Pro127Ala)
|
|
|
NM_021922.3(FANCE):c.387A>T (p.Pro129=)
|
rs4713867
|
|
NM_021922.3(FANCE):c.387_388delinsCC (p.Asp130His)
|
rs2150890289
|
|
NM_021922.3(FANCE):c.398T>C (p.Leu133Pro)
|
|
|
NM_021922.3(FANCE):c.413A>G (p.Glu138Gly)
|
|
|
NM_021922.3(FANCE):c.422G>A (p.Arg141Gln)
|
|
|
NM_021922.3(FANCE):c.440G>A (p.Gly147Glu)
|
rs1220564322
|
|
NM_021922.3(FANCE):c.448A>G (p.Met150Val)
|
rs1489457999
|
|
NM_021922.3(FANCE):c.461C>T (p.Ser154Phe)
|
rs1016962570
|
|
NM_021922.3(FANCE):c.463C>G (p.Pro155Ala)
|
rs2150890589
|
|
NM_021922.3(FANCE):c.463C>T (p.Pro155Ser)
|
rs2150890589
|
|
NM_021922.3(FANCE):c.480C>A (p.Cys160Ter)
|
rs45509302
|
|
NM_021922.3(FANCE):c.487C>A (p.Gln163Lys)
|
rs1767316578
|
|
NM_021922.3(FANCE):c.491T>C (p.Leu164Pro)
|
rs1767316710
|
|
NM_021922.3(FANCE):c.4G>C (p.Ala2Pro)
|
rs886061327
|
|
NM_021922.3(FANCE):c.521G>T (p.Gly174Val)
|
rs1014679374
|
|
NM_021922.3(FANCE):c.539C>G (p.Ser180Cys)
|
|
|
NM_021922.3(FANCE):c.541C>T (p.Pro181Ser)
|
|
|
NM_021922.3(FANCE):c.542C>T (p.Pro181Leu)
|
rs1767323169
|
|
NM_021922.3(FANCE):c.551C>A (p.Pro184Gln)
|
rs373268808
|
|
NM_021922.3(FANCE):c.590C>T (p.Pro197Leu)
|
rs2150891086
|
|
NM_021922.3(FANCE):c.59C>A (p.Ala20Glu)
|
|
|
NM_021922.3(FANCE):c.5C>T (p.Ala2Val)
|
|
|
NM_021922.3(FANCE):c.619G>A (p.Glu207Lys)
|
|
|
NM_021922.3(FANCE):c.677A>C (p.Glu226Ala)
|
rs2150891378
|
|
NM_021922.3(FANCE):c.679G>A (p.Glu227Lys)
|
rs1287242303
|
|
NM_021922.3(FANCE):c.691_693del (p.Lys231del)
|
rs1767333988
|
|
NM_021922.3(FANCE):c.698G>A (p.Arg233Lys)
|
|
|
NM_021922.3(FANCE):c.703G>A (p.Glu235Lys)
|
|
|
NM_021922.3(FANCE):c.71C>A (p.Ala24Asp)
|
rs1045892220
|
|
NM_021922.3(FANCE):c.722C>T (p.Ser241Phe)
|
rs933204286
|
|
NM_021922.3(FANCE):c.740G>A (p.Ser247Asn)
|
rs1767336620
|
|
NM_021922.3(FANCE):c.742G>A (p.Ala248Thr)
|
rs1330517530
|
|
NM_021922.3(FANCE):c.743C>T (p.Ala248Val)
|
rs1767337048
|
|
NM_021922.3(FANCE):c.746C>T (p.Ser249Phe)
|
rs1036490024
|
|
NM_021922.3(FANCE):c.74C>T (p.Pro25Leu)
|
|
|
NM_021922.3(FANCE):c.751A>G (p.Ile251Val)
|
|
|
NM_021922.3(FANCE):c.75_98del (p.Ala26_Leu33del)
|
|
|
NM_021922.3(FANCE):c.787G>A (p.Glu263Lys)
|
|
|
NM_021922.3(FANCE):c.789G>C (p.Glu263Asp)
|
|
|
NM_021922.3(FANCE):c.797C>T (p.Ser266Leu)
|
|
|
NM_021922.3(FANCE):c.812C>T (p.Ala271Val)
|
rs1060501874
|
|
NM_021922.3(FANCE):c.818G>T (p.Gly273Val)
|
rs1468356265
|
|
NM_021922.3(FANCE):c.823G>A (p.Ala275Thr)
|
|
|
NM_021922.3(FANCE):c.855+4C>G
|
|
|
NM_021922.3(FANCE):c.86T>A (p.Leu29Gln)
|
rs2150885592
|
|
NM_021922.3(FANCE):c.875A>G (p.Gln292Arg)
|
rs1767398617
|
|
NM_021922.3(FANCE):c.878A>G (p.Gln293Arg)
|
|
|
NM_021922.3(FANCE):c.88CTGCAGGCG[1] (p.30LQA[1])
|
rs780106496
|
|
NM_021922.3(FANCE):c.88CTGCAGGCG[3] (p.Ala35_Gly36insLeuGlnAla)
|
|
|
NM_021922.3(FANCE):c.892T>A (p.Leu298Met)
|
|
|
NM_021922.3(FANCE):c.901-5C>A
|
rs747168225
|
|
NM_021922.3(FANCE):c.907G>C (p.Glu303Gln)
|
rs1470052853
|
|
NM_021922.3(FANCE):c.928C>G (p.Pro310Ala)
|
|
|
NM_021922.3(FANCE):c.928C>T (p.Pro310Ser)
|
rs372788363
|
|
NM_021922.3(FANCE):c.929C>A (p.Pro310Gln)
|
rs139600847
|
|
NM_021922.3(FANCE):c.929C>G (p.Pro310Arg)
|
rs139600847
|
|
NM_021922.3(FANCE):c.929C>T (p.Pro310Leu)
|
rs139600847
|
|
NM_021922.3(FANCE):c.937C>T (p.Leu313=)
|
rs557021652
|
|
NM_021922.3(FANCE):c.956G>A (p.Cys319Tyr)
|
rs1440691539
|
|
NM_021922.3(FANCE):c.959G>A (p.Ser320Asn)
|
rs1767417019
|
|
NM_021922.3(FANCE):c.95C>A (p.Ala32Glu)
|
rs924383249
|
|
NM_021922.3(FANCE):c.968A>G (p.Gln323Arg)
|
rs1034716031
|
|
NM_021922.3(FANCE):c.970-6A>G
|
|
|
NM_021922.3(FANCE):c.970-6A>T
|
rs1206121566
|
|
NM_021922.3(FANCE):c.983G>T (p.Cys328Phe)
|
|
|
NM_021922.3(FANCE):c.985G>A (p.Ala329Thr)
|
|
|
NM_021922.3(FANCE):c.988C>G (p.Gln330Glu)
|
rs1263409404
|
|
NM_021922.3(FANCE):c.991C>G (p.Leu331Val)
|
rs45468994
|
|
NM_021922.3(FANCE):c.992T>C (p.Leu331Pro)
|
|
|
NM_021922.3(FANCE):c.997C>T (p.Leu333Phe)
|
rs2150894670
|
|
NM_022437.3(ABCG8):c.-27G>A
|
rs779984848
|
|
NM_022725.4(FANCF):c.*1338dup
|
rs45554234
|
|
NM_022725.4(FANCF):c.*1509G>C
|
rs886048153
|
|
NM_022725.4(FANCF):c.*1525T>G
|
rs886048152
|
|
NM_022725.4(FANCF):c.*1696G>A
|
rs886048149
|
|
NM_022725.4(FANCF):c.*286A>G
|
rs1858607148
|
|
NM_022725.4(FANCF):c.*287C>T
|
rs886048156
|
|
NM_022725.4(FANCF):c.*539T>A
|
rs1858602761
|
|
NM_022725.4(FANCF):c.*624G>C
|
rs768178918
|
|
NM_022725.4(FANCF):c.*650ATTAA[1]
|
rs886048154
|
|
NM_022725.4(FANCF):c.*695dup
|
rs796646840
|
|
NM_022725.4(FANCF):c.*857G>A
|
rs964945469
|
|
NM_022725.4(FANCF):c.1001C>T (p.Ala334Val)
|
rs772941983
|
|
NM_022725.4(FANCF):c.1006G>A (p.Asp336Asn)
|
rs886048157
|
|
NM_022725.4(FANCF):c.1007A>G (p.Asp336Gly)
|
rs2133796304
|
|
NM_022725.4(FANCF):c.1025C>T (p.Pro342Leu)
|
|
|
NM_022725.4(FANCF):c.1041G>A (p.Trp347Ter)
|
rs587778343
|
|
NM_022725.4(FANCF):c.1048C>A (p.Leu350Ile)
|
|
|
NM_022725.4(FANCF):c.104T>G (p.Leu35Trp)
|
rs2133798660
|
|
NM_022725.4(FANCF):c.1063C>T (p.Arg355Cys)
|
rs1858614312
|
|
NM_022725.4(FANCF):c.1064G>A (p.Arg355His)
|
rs758175326
|
|
NM_022725.4(FANCF):c.1082A>G (p.Lys361Arg)
|
rs2133796173
|
|
NM_022725.4(FANCF):c.1089A>C (p.Gln363His)
|
rs1858613638
|
|
NM_022725.4(FANCF):c.10C>T (p.Leu4Phe)
|
|
|
NM_022725.4(FANCF):c.1123T>C (p.Ter375Gln)
|
|
|
NM_022725.4(FANCF):c.115C>T (p.Arg39Cys)
|
|
|
NM_022725.4(FANCF):c.119A>G (p.Tyr40Cys)
|
rs1359473267
|
|
NM_022725.4(FANCF):c.130A>T (p.Ile44Phe)
|
|
|
NM_022725.4(FANCF):c.136C>G (p.Arg46Gly)
|
rs758925111
|
|
NM_022725.4(FANCF):c.137G>A (p.Arg46Gln)
|
|
|
NM_022725.4(FANCF):c.139C>T (p.Arg47Cys)
|
|
|
NM_022725.4(FANCF):c.140_141delinsTT (p.Arg47Leu)
|
|
|
NM_022725.4(FANCF):c.160A>G (p.Ile54Val)
|
rs2133798534
|
|
NM_022725.4(FANCF):c.164G>A (p.Arg55His)
|
|
|
NM_022725.4(FANCF):c.175G>C (p.Glu59Gln)
|
|
|
NM_022725.4(FANCF):c.191A>G (p.Asn64Ser)
|
rs756433846
|
|
NM_022725.4(FANCF):c.192C>A (p.Asn64Lys)
|
rs1413335884
|
|
NM_022725.4(FANCF):c.194A>C (p.Gln65Pro)
|
|
|
NM_022725.4(FANCF):c.211G>A (p.Gly71Ser)
|
rs1590542146
|
|
NM_022725.4(FANCF):c.214T>G (p.Phe72Val)
|
|
|
NM_022725.4(FANCF):c.221G>A (p.Arg74Gln)
|
rs1858634295
|
|
NM_022725.4(FANCF):c.223G>T (p.Gly75Cys)
|
rs958516903
|
|
NM_022725.4(FANCF):c.244A>G (p.Asn82Asp)
|
|
|
NM_022725.4(FANCF):c.248T>C (p.Phe83Ser)
|
|
|
NM_022725.4(FANCF):c.253G>A (p.Ala85Thr)
|
|
|
NM_022725.4(FANCF):c.260G>T (p.Gly87Val)
|
|
|
NM_022725.4(FANCF):c.261_263del (p.His88del)
|
rs886048158
|
|
NM_022725.4(FANCF):c.269A>G (p.Asp90Gly)
|
rs746415789
|
|
NM_022725.4(FANCF):c.281C>G (p.Ser94Cys)
|
|
|
NM_022725.4(FANCF):c.281C>T (p.Ser94Phe)
|
rs1454810693
|
|
NM_022725.4(FANCF):c.2T>C (p.Met1Thr)
|
rs745495865
|
|
NM_022725.4(FANCF):c.301C>G (p.Arg101Gly)
|
rs760571335
|
|
NM_022725.4(FANCF):c.318_319delinsCC (p.Ala107Pro)
|
rs1565055434
|
|
NM_022725.4(FANCF):c.322C>T (p.Arg108Cys)
|
rs200995539
|
|
NM_022725.4(FANCF):c.325T>C (p.Tyr109His)
|
rs2133798077
|
|
NM_022725.4(FANCF):c.349C>T (p.Pro117Ser)
|
rs372625322
|
|
NM_022725.4(FANCF):c.352G>A (p.Gly118Ser)
|
|
|
NM_022725.4(FANCF):c.352G>T (p.Gly118Cys)
|
rs1060501871
|
|
NM_022725.4(FANCF):c.353G>T (p.Gly118Val)
|
rs200874455
|
|
NM_022725.4(FANCF):c.364C>T (p.Arg122Trp)
|
|
|
NM_022725.4(FANCF):c.365G>C (p.Arg122Pro)
|
|
|
NM_022725.4(FANCF):c.370G>T (p.Ala124Ser)
|
rs201357673
|
|
NM_022725.4(FANCF):c.385C>A (p.Leu129Ile)
|
|
|
NM_022725.4(FANCF):c.388C>A (p.Gln130Lys)
|
|
|
NM_022725.4(FANCF):c.388C>G (p.Gln130Glu)
|
|
|
NM_022725.4(FANCF):c.391G>A (p.Glu131Lys)
|
|
|
NM_022725.4(FANCF):c.407_415dup (p.Arg138_Arg139insLeuAlaArg)
|
|
|
NM_022725.4(FANCF):c.412C>A (p.Arg138Ser)
|
rs565372884
|
|
NM_022725.4(FANCF):c.419G>A (p.Arg140Gln)
|
rs868692458
|
|
NM_022725.4(FANCF):c.433A>G (p.Met145Val)
|
rs766160698
|
|
NM_022725.4(FANCF):c.434T>G (p.Met145Arg)
|
|
|
NM_022725.4(FANCF):c.445A>G (p.Asn149Asp)
|
|
|
NM_022725.4(FANCF):c.447T>C (p.Asn149=)
|
|
|
NM_022725.4(FANCF):c.448G>C (p.Gly150Arg)
|
|
|
NM_022725.4(FANCF):c.449G>A (p.Gly150Asp)
|
|
|
NM_022725.4(FANCF):c.451T>A (p.Tyr151Asn)
|
rs984455929
|
|
NM_022725.4(FANCF):c.457G>A (p.Glu153Lys)
|
rs748768759
|
|
NM_022725.4(FANCF):c.462C>A (p.Asn154Lys)
|
|
|
NM_022725.4(FANCF):c.473A>G (p.Gln158Arg)
|
|
|
NM_022725.4(FANCF):c.477G>A (p.Glu159=)
|
|
|
NM_022725.4(FANCF):c.482C>G (p.Ser161Cys)
|
|
|
NM_022725.4(FANCF):c.484C>G (p.Leu162Val)
|
rs2133797641
|
|
NM_022725.4(FANCF):c.489G>C (p.Met163Ile)
|
rs1590541541
|
|
NM_022725.4(FANCF):c.494C>T (p.Thr165Ile)
|
|
|
NM_022725.4(FANCF):c.497A>C (p.Gln166Pro)
|
|
|
NM_022725.4(FANCF):c.49G>A (p.Val17Ile)
|
|
|
NM_022725.4(FANCF):c.49G>T (p.Val17Phe)
|
rs758897077
|
|
NM_022725.4(FANCF):c.504_505delinsAT (p.Glu168_Leu169=)
|
|
|
NM_022725.4(FANCF):c.506T>A (p.Leu169Gln)
|
|
|
NM_022725.4(FANCF):c.50T>C (p.Val17Ala)
|
|
|
NM_022725.4(FANCF):c.533G>A (p.Gly178Glu)
|
|
|
NM_022725.4(FANCF):c.537G>C (p.Lys179Asn)
|
|
|
NM_022725.4(FANCF):c.544G>A (p.Ala182Thr)
|
rs1858626528
|
|
NM_022725.4(FANCF):c.547G>A (p.Glu183Lys)
|
rs774728053
|
|
NM_022725.4(FANCF):c.547G>C (p.Glu183Gln)
|
rs774728053
|
|
NM_022725.4(FANCF):c.54A>G (p.Ser18=)
|
|
|
NM_022725.4(FANCF):c.551G>C (p.Arg184Pro)
|
|
|
NM_022725.4(FANCF):c.552_554inv (p.Pro185Asp)
|
|
|
NM_022725.4(FANCF):c.553C>T (p.Pro185Ser)
|
|
|
NM_022725.4(FANCF):c.581A>G (p.Glu194Gly)
|
rs1274843959
|
|
NM_022725.4(FANCF):c.583C>T (p.Arg195Cys)
|
rs1231820160
|
|
NM_022725.4(FANCF):c.606G>T (p.Leu202=)
|
|
|
NM_022725.4(FANCF):c.614T>C (p.Ile205Thr)
|
rs764300983
|
|
NM_022725.4(FANCF):c.623C>A (p.Ala208Glu)
|
|
|
NM_022725.4(FANCF):c.623C>T (p.Ala208Val)
|
|
|
NM_022725.4(FANCF):c.626T>C (p.Leu209Pro)
|
rs1554963662
|
|
NM_022725.4(FANCF):c.628T>C (p.Leu210=)
|
|
|
NM_022725.4(FANCF):c.62C>G (p.Thr21Ser)
|
rs765672591
|
|
NM_022725.4(FANCF):c.635C>A (p.Pro212Gln)
|
rs1590541259
|
|
NM_022725.4(FANCF):c.656A>G (p.Gln219Arg)
|
rs1230568893
|
|
NM_022725.4(FANCF):c.65A>G (p.Tyr22Cys)
|
rs1590542501
|
|
NM_022725.4(FANCF):c.668A>C (p.Glu223Ala)
|
|
|
NM_022725.4(FANCF):c.670C>A (p.Pro224Thr)
|
rs767765820
|
|
NM_022725.4(FANCF):c.683A>C (p.Lys228Thr)
|
|
|
NM_022725.4(FANCF):c.683A>G (p.Lys228Arg)
|
rs766802308
|
|
NM_022725.4(FANCF):c.688C>T (p.Pro230Ser)
|
rs773724648
|
|
NM_022725.4(FANCF):c.689C>G (p.Pro230Arg)
|
rs762305649
|
|
NM_022725.4(FANCF):c.692G>A (p.Gly231Glu)
|
rs1858622610
|
|
NM_022725.4(FANCF):c.696G>C (p.Glu232Asp)
|
rs1590541131
|
|
NM_022725.4(FANCF):c.696G>T (p.Glu232Asp)
|
rs1590541131
|
|
NM_022725.4(FANCF):c.70A>G (p.Ser24Gly)
|
rs1858638724
|
|
NM_022725.4(FANCF):c.70A>T (p.Ser24Cys)
|
rs1858638724
|
|
NM_022725.4(FANCF):c.760G>A (p.Ala254Thr)
|
|
|
NM_022725.4(FANCF):c.763C>G (p.Leu255Val)
|
|
|
NM_022725.4(FANCF):c.769G>A (p.Ala257Thr)
|
|
|
NM_022725.4(FANCF):c.78G>C (p.Trp26Cys)
|
rs764519472
|
|
NM_022725.4(FANCF):c.790A>T (p.Thr264Ser)
|
rs1663559839
|
|
NM_022725.4(FANCF):c.795C>A (p.Ser265Arg)
|
rs758796858
|
|
NM_022725.4(FANCF):c.799C>T (p.His267Tyr)
|
|
|
NM_022725.4(FANCF):c.801C>A (p.His267Gln)
|
rs762356967
|
|
NM_022725.4(FANCF):c.80A>C (p.Asp27Ala)
|
|
|
NM_022725.4(FANCF):c.814C>T (p.Pro272Ser)
|
|
|
NM_022725.4(FANCF):c.817G>C (p.Val273Leu)
|
rs1858619819
|
|
NM_022725.4(FANCF):c.821A>C (p.Tyr274Ser)
|
rs144524228
|
|
NM_022725.4(FANCF):c.821A>G (p.Tyr274Cys)
|
rs144524228
|
|
NM_022725.4(FANCF):c.829C>G (p.Leu277Val)
|
|
|
NM_022725.4(FANCF):c.838G>A (p.Asp280Asn)
|
|
|
NM_022725.4(FANCF):c.838G>T (p.Asp280Tyr)
|
|
|
NM_022725.4(FANCF):c.841T>C (p.Trp281Arg)
|
|
|
NM_022725.4(FANCF):c.845G>A (p.Gly282Asp)
|
rs2133796678
|
|
NM_022725.4(FANCF):c.851G>C (p.Arg284Pro)
|
|
|
NM_022725.4(FANCF):c.857A>C (p.His286Pro)
|
|
|
NM_022725.4(FANCF):c.857A>G (p.His286Arg)
|
rs368940253
|
|
NM_022725.4(FANCF):c.85G>C (p.Ala29Pro)
|
|
|
NM_022725.4(FANCF):c.866T>C (p.Leu289Pro)
|
rs1177443868
|
|
NM_022725.4(FANCF):c.869A>C (p.Gln290Pro)
|
rs2133796621
|
|
NM_022725.4(FANCF):c.886G>T (p.Gly296Ter)
|
|
|
NM_022725.4(FANCF):c.889A>G (p.Thr297Ala)
|
rs1060501872
|
|
NM_022725.4(FANCF):c.88A>G (p.Thr30Ala)
|
|
|
NM_022725.4(FANCF):c.899A>G (p.Gln300Arg)
|
rs915379462
|
|
NM_022725.4(FANCF):c.89C>G (p.Thr30Ser)
|
rs370347668
|
|
NM_022725.4(FANCF):c.921G>T (p.Leu307Phe)
|
rs1205605542
|
|
NM_022725.4(FANCF):c.923A>G (p.His308Arg)
|
rs1590540697
|
|
NM_022725.4(FANCF):c.924C>A (p.His308Gln)
|
|
|
NM_022725.4(FANCF):c.940C>T (p.Leu314Phe)
|
rs1858617232
|
|
NM_022725.4(FANCF):c.943dup (p.Cys315fs)
|
rs1590540654
|
|
NM_022725.4(FANCF):c.952C>G (p.Pro318Ala)
|
|
|
NM_022725.4(FANCF):c.952C>T (p.Pro318Ser)
|
rs746120363
|
|
NM_022725.4(FANCF):c.95G>A (p.Arg32His)
|
|
|
NM_022725.4(FANCF):c.96_98dup (p.Arg33dup)
|
rs1554963731
|
|
NM_022725.4(FANCF):c.98G>A (p.Arg33Gln)
|
rs2133798673
|
|
NM_022725.4(FANCF):c.98G>C (p.Arg33Pro)
|
|
|
NM_022725.4(FANCF):c.992C>T (p.Thr331Ile)
|
rs1250903119
|
|
NM_022725.4(FANCF):c.994T>C (p.Cys332Arg)
|
|
|
NM_024675.4(PALB2):c.-108C>A
|
rs180177140
|
|
NM_024675.4(PALB2):c.101G>A (p.Arg34His)
|
rs144944814
|
|
NM_024675.4(PALB2):c.101G>T (p.Arg34Leu)
|
rs144944814
|
|
NM_024675.4(PALB2):c.1072C>T (p.Pro358Ser)
|
rs876660876
|
|
NM_024675.4(PALB2):c.109-12T>A
|
rs774949203
|
|
NM_024675.4(PALB2):c.1115G>C (p.Ser372Thr)
|
rs786204243
|
|
NM_024675.4(PALB2):c.113C>G (p.Ala38Gly)
|
rs371875379
|
|
NM_024675.4(PALB2):c.1150G>A (p.Glu384Lys)
|
rs1567221497
|
|
NM_024675.4(PALB2):c.1189A>C (p.Thr397Pro)
|
rs367578415
|
|
NM_024675.4(PALB2):c.1217C>T (p.Ala406Val)
|
rs1060502757
|
|
NM_024675.4(PALB2):c.1318T>C (p.Phe440Leu)
|
rs776294034
|
|
NM_024675.4(PALB2):c.1340C>A (p.Ala447Glu)
|
rs1555461334
|
|
NM_024675.4(PALB2):c.1415A>G (p.Gln472Arg)
|
rs867817029
|
|
NM_024675.4(PALB2):c.1471G>C (p.Ala491Pro)
|
rs577969558
|
|
NM_024675.4(PALB2):c.1492G>A (p.Asp498Asn)
|
rs75023630
|
|
NM_024675.4(PALB2):c.1498T>C (p.Ser500Pro)
|
rs869025294
|
|
NM_024675.4(PALB2):c.1530A>C (p.Arg510Ser)
|
rs1555461232
|
|
NM_024675.4(PALB2):c.1537A>G (p.Thr513Ala)
|
rs1060502741
|
|
NM_024675.4(PALB2):c.1684+11A>G
|
rs201368043
|
|
NM_024675.4(PALB2):c.1702C>A (p.Gln568Lys)
|
rs876659354
|
|
NM_024675.4(PALB2):c.1748T>G (p.Leu583Trp)
|
rs587782151
|
|
NM_024675.4(PALB2):c.1802A>G (p.Lys601Arg)
|
rs1555460644
|
|
NM_024675.4(PALB2):c.1862C>T (p.Pro621Leu)
|
rs1567218668
|
|
NM_024675.4(PALB2):c.1918T>A (p.Ser640Thr)
|
rs876659058
|
|
NM_024675.4(PALB2):c.1918T>G (p.Ser640Ala)
|
rs876659058
|
|
NM_024675.4(PALB2):c.1982C>G (p.Pro661Arg)
|
rs71379822
|
|
NM_024675.4(PALB2):c.1997C>T (p.Thr666Ile)
|
rs1567218311
|
|
NM_024675.4(PALB2):c.205C>T (p.His69Tyr)
|
rs879253891
|
|
NM_024675.4(PALB2):c.2148T>A (p.Asn716Lys)
|
rs770145849
|
|
NM_024675.4(PALB2):c.2216C>T (p.Pro739Leu)
|
rs1966858909
|
|
NM_024675.4(PALB2):c.2231A>G (p.Glu744Gly)
|
rs1060502779
|
|
NM_024675.4(PALB2):c.2263T>C (p.Cys755Arg)
|
rs1060502794
|
|
NM_024675.4(PALB2):c.2267G>A (p.Cys756Tyr)
|
rs925044785
|
|
NM_024675.4(PALB2):c.2273C>G (p.Pro758Arg)
|
rs746117401
|
|
NM_024675.4(PALB2):c.2473A>G (p.Arg825Gly)
|
rs745747228
|
|
NM_024675.4(PALB2):c.2507_2509del (p.Val836del)
|
rs587782697
|
|
NM_024675.4(PALB2):c.2540C>G (p.Ser847Cys)
|
rs1567216902
|
|
NM_024675.4(PALB2):c.2667T>A (p.Thr889=)
|
rs876659224
|
|
NM_024675.4(PALB2):c.2699C>T (p.Ala900Val)
|
rs730881890
|
|
NM_024675.4(PALB2):c.2774T>C (p.Val925Ala)
|
rs1555459734
|
|
NM_024675.4(PALB2):c.2777C>T (p.Pro926Leu)
|
rs1555459732
|
|
NM_024675.4(PALB2):c.2785_2786delinsAT (p.Tyr929Ile)
|
rs1597082795
|
|
NM_024675.4(PALB2):c.2804C>G (p.Ala935Gly)
|
rs769009609
|
|
NM_024675.4(PALB2):c.2827G>A (p.Glu943Lys)
|
rs1567214295
|
|
NM_024675.4(PALB2):c.2849C>T (p.Ser950Phe)
|
rs876659160
|
|
NM_024675.4(PALB2):c.2861A>G (p.Glu954Gly)
|
rs375942535
|
|
NM_024675.4(PALB2):c.2996+14T>G
|
rs1407045774
|
|
NM_024675.4(PALB2):c.29G>T (p.Ser10Ile)
|
rs876659643
|
|
NM_024675.4(PALB2):c.3037A>G (p.Ile1013Val)
|
rs1567212950
|
|
NM_024675.4(PALB2):c.3049G>A (p.Ala1017Thr)
|
rs759795184
|
|
NM_024675.4(PALB2):c.3103A>T (p.Ile1035Phe)
|
rs863224783
|
|
NM_024675.4(PALB2):c.3202-13T>C
|
|
|
NM_024675.4(PALB2):c.3209T>C (p.Leu1070Pro)
|
rs863224785
|
|
NM_024675.4(PALB2):c.3217G>T (p.Val1073Phe)
|
rs1555458226
|
|
NM_024675.4(PALB2):c.321T>G (p.Phe107Leu)
|
rs781049663
|
|
NM_024675.4(PALB2):c.3220C>G (p.Leu1074Val)
|
rs1057523330
|
|
NM_024675.4(PALB2):c.3296C>T (p.Thr1099Met)
|
rs142132127
|
|
NM_024675.4(PALB2):c.3307G>C (p.Val1103Leu)
|
rs201657283
|
|
NM_024675.4(PALB2):c.3325T>C (p.Cys1109Arg)
|
rs911734555
|
|
NM_024675.4(PALB2):c.3332C>T (p.Pro1111Leu)
|
rs772480747
|
|
NM_024675.4(PALB2):c.3367G>A (p.Val1123Met)
|
rs757118000
|
|
NM_024675.4(PALB2):c.3402T>A (p.Ser1134=)
|
rs1966403904
|
|
NM_024675.4(PALB2):c.3418T>G (p.Trp1140Gly)
|
rs62625283
|
|
NM_024675.4(PALB2):c.3428T>C (p.Leu1143Pro)
|
rs62625284
|
|
NM_024675.4(PALB2):c.359G>C (p.Arg120Thr)
|
rs1251150895
|
|
NM_024675.4(PALB2):c.388C>T (p.His130Tyr)
|
rs1555461809
|
|
NM_024675.4(PALB2):c.437G>A (p.Arg146Lys)
|
rs2142443443
|
|
NM_024675.4(PALB2):c.510A>C (p.Arg170Ser)
|
rs1060502796
|
|
NM_024675.4(PALB2):c.551G>C (p.Ser184Thr)
|
rs587780220
|
|
NM_024675.4(PALB2):c.557A>T (p.Asn186Ile)
|
rs587782164
|
|
NM_024675.4(PALB2):c.603T>A (p.Ser201Arg)
|
rs769647912
|
|
NM_024675.4(PALB2):c.637G>C (p.Val213Leu)
|
rs786203875
|
|
NM_024675.4(PALB2):c.66A>G (p.Ala22=)
|
rs1057520982
|
|
NM_024675.4(PALB2):c.712A>G (p.Arg238Gly)
|
rs779278389
|
|
NM_024675.4(PALB2):c.733G>C (p.Ala245Pro)
|
rs886051831
|
|
NM_024675.4(PALB2):c.779A>G (p.Gln260Arg)
|
rs1597098293
|
|
NM_024675.4(PALB2):c.833_834delinsAT (p.Leu278His)
|
rs587778582
|
|
NM_024675.4(PALB2):c.968C>T (p.Ala323Val)
|
rs730881882
|
|
NM_025215.6(PUS1):c.-151G>A
|
rs1890481878
|
|
NM_025215.6(PUS1):c.-424C>T
|
rs1890465624
|
|
NM_025215.6(PUS1):c.1129A>G (p.Ile377Val)
|
rs200292016
|
|
NM_025215.6(PUS1):c.190C>T (p.His64Tyr)
|
rs770669291
|
|
NM_025215.6(PUS1):c.423C>A (p.Arg141=)
|
rs371752870
|
|
NM_025215.6(PUS1):c.517C>T (p.His173Tyr)
|
|
|
NM_025215.6(PUS1):c.679G>A (p.Glu227Lys)
|
|
|
NM_025215.6(PUS1):c.737A>G (p.His246Arg)
|
rs1891063731
|
|
NM_025215.6(PUS1):c.937G>A (p.Val313Met)
|
rs140088613
|
|
NM_030943.4(AMN):c.1006+6C>T
|
|
|
NM_030943.4(AMN):c.1007-3C>T
|
rs1318731733
|
|
NM_030943.4(AMN):c.1036A>T (p.Met346Leu)
|
rs1215795347
|
|
NM_030943.4(AMN):c.1056C>A (p.His352Gln)
|
rs773203683
|
|
NM_030943.4(AMN):c.1079_1102del (p.Gly360_Ala367del)
|
rs1034496756
|
|
NM_030943.4(AMN):c.1115_1123dup (p.Ala372_Leu374dup)
|
rs1428691401
|
|
NM_030943.4(AMN):c.1145T>C (p.Leu382Pro)
|
|
|
NM_030943.4(AMN):c.1148T>C (p.Leu383Pro)
|
|
|
NM_030943.4(AMN):c.1169+17_1169+36del
|
|
|
NM_030943.4(AMN):c.1192G>T (p.Ala398Ser)
|
|
|
NM_030943.4(AMN):c.1199C>T (p.Ala400Val)
|
|
|
NM_030943.4(AMN):c.1219C>T (p.Arg407Cys)
|
|
|
NM_030943.4(AMN):c.1257G>A (p.Leu419=)
|
rs2139313588
|
|
NM_030943.4(AMN):c.1270C>G (p.Arg424Gly)
|
|
|
NM_030943.4(AMN):c.1288A>C (p.Lys430Gln)
|
|
|
NM_030943.4(AMN):c.1308_1323dup (p.Val442fs)
|
rs2139314176
|
|
NM_030943.4(AMN):c.130G>A (p.Ala44Thr)
|
|
|
NM_030943.4(AMN):c.1310G>A (p.Ser437Asn)
|
|
|
NM_030943.4(AMN):c.1330C>T (p.Pro444Ser)
|
rs1354241478
|
|
NM_030943.4(AMN):c.1343_1348dup (p.Gly448_Ala449dup)
|
rs36040113
|
|
NM_030943.4(AMN):c.140C>T (p.Ala47Val)
|
|
|
NM_030943.4(AMN):c.149T>C (p.Phe50Ser)
|
rs772475317
|
|
NM_030943.4(AMN):c.163-3C>T
|
|
|
NM_030943.4(AMN):c.206T>C (p.Met69Thr)
|
|
|
NM_030943.4(AMN):c.250G>A (p.Gly84Arg)
|
|
|
NM_030943.4(AMN):c.268G>A (p.Val90Met)
|
|
|
NM_030943.4(AMN):c.294G>A (p.Ala98=)
|
|
|
NM_030943.4(AMN):c.296-9C>G
|
|
|
NM_030943.4(AMN):c.316G>A (p.Asp106Asn)
|
|
|
NM_030943.4(AMN):c.365A>G (p.Asp122Gly)
|
|
|
NM_030943.4(AMN):c.395C>T (p.Ala132Val)
|
|
|
NM_030943.4(AMN):c.43G>T (p.Ala15Ser)
|
|
|
NM_030943.4(AMN):c.44-7_44-5del
|
rs774101952
|
|
NM_030943.4(AMN):c.440G>C (p.Ser147Thr)
|
|
|
NM_030943.4(AMN):c.454G>A (p.Val152Met)
|
|
|
NM_030943.4(AMN):c.481G>T (p.Val161Leu)
|
|
|
NM_030943.4(AMN):c.491_492delinsAG (p.Arg164Gln)
|
|
|
NM_030943.4(AMN):c.56C>T (p.Ala19Val)
|
rs979571435
|
|
NM_030943.4(AMN):c.62C>T (p.Ser21Phe)
|
|
|
NM_030943.4(AMN):c.652-20A>G
|
|
|
NM_030943.4(AMN):c.682C>G (p.Gln228Glu)
|
rs1163522093
|
|
NM_030943.4(AMN):c.712G>A (p.Ala238Thr)
|
|
|
NM_030943.4(AMN):c.754C>T (p.Leu252Phe)
|
|
|
NM_030943.4(AMN):c.806G>T (p.Arg269Leu)
|
|
|
NM_030943.4(AMN):c.855C>G (p.His285Gln)
|
|
|
NM_030943.4(AMN):c.864G>T (p.Gln288His)
|
|
|
NM_030943.4(AMN):c.873_874dup (p.Ser292fs)
|
rs2139311797
|
|
NM_030943.4(AMN):c.892T>C (p.Ser298Pro)
|
|
|
NM_030943.4(AMN):c.914C>T (p.Thr305Met)
|
|
|
NM_030943.4(AMN):c.939_940delinsAT (p.Asn314Tyr)
|
|
|
NM_030943.4(AMN):c.948del (p.Glu317fs)
|
rs2139312056
|
|
NM_030943.4(AMN):c.967C>T (p.Arg323Trp)
|
|
|
NM_030943.4(AMN):c.998C>G (p.Ala333Gly)
|
|
|
NM_032043.2(BRIP1):c.1474-7C>A
|
rs886041146
|
|
NM_032043.2(BRIP1):c.3277delinsTTCAGAA (p.Leu1093delinsPheArgIle)
|
rs1555572724
|
|
NM_032043.2(BRIP1):c.3599delinsTT (p.His1200fs)
|
rs1555572516
|
|
NM_032043.3(BRIP1):c.*1048_*1050del
|
rs564290244
|
|
NM_032043.3(BRIP1):c.*1255AG[1]
|
rs886053209
|
|
NM_032043.3(BRIP1):c.*1381G>T
|
rs886053208
|
|
NM_032043.3(BRIP1):c.*1409T>A
|
rs554933640
|
|
NM_032043.3(BRIP1):c.*1801T>G
|
rs1479468180
|
|
NM_032043.3(BRIP1):c.*1930G>C
|
rs2061267341
|
|
NM_032043.3(BRIP1):c.*2672G>A
|
rs924486012
|
|
NM_032043.3(BRIP1):c.*2715C>T
|
rs886053203
|
|
NM_032043.3(BRIP1):c.*2744A>G
|
rs1311178838
|
|
NM_032043.3(BRIP1):c.*2756G>A
|
rs182264505
|
|
NM_032043.3(BRIP1):c.*2811_*2815dup
|
rs768910110
|
|
NM_032043.3(BRIP1):c.*2812_*2815dup
|
rs768910110
|
|
NM_032043.3(BRIP1):c.*2813_*2815A[4]GAAA[1]
|
rs1555571892
|
|
NM_032043.3(BRIP1):c.*2813_*2815A[5]GAAA[1]
|
rs1555571892
|
|
NM_032043.3(BRIP1):c.*2813_*2815A[6]GAAA[1]
|
rs1555571892
|
|
NM_032043.3(BRIP1):c.*2817_*2818insGAAAGA
|
rs886053202
|
|
NM_032043.3(BRIP1):c.*2819_*2820insAAAA
|
rs551338531
|
|
NM_032043.3(BRIP1):c.*2819_*2820insAAAAAA
|
rs551338531
|
|
NM_032043.3(BRIP1):c.*2819_*2820insAAAAAAA
|
rs551338531
|
|
NM_032043.3(BRIP1):c.*2868A>G
|
rs1044791743
|
|
NM_032043.3(BRIP1):c.*288A>G
|
rs886053213
|
|
NM_032043.3(BRIP1):c.*2926T>A
|
rs886053201
|
|
NM_032043.3(BRIP1):c.*3093A>T
|
rs944576811
|
|
NM_032043.3(BRIP1):c.*3145A>G
|
rs886053200
|
|
NM_032043.3(BRIP1):c.*3821A>G
|
rs886053197
|
|
NM_032043.3(BRIP1):c.*3918C>T
|
rs886053196
|
|
NM_032043.3(BRIP1):c.*394CT[1]
|
rs546666211
|
|
NM_032043.3(BRIP1):c.*421C>T
|
rs886053211
|
|
NM_032043.3(BRIP1):c.*612A>G
|
rs2061285626
|
|
NM_032043.3(BRIP1):c.*684C>A
|
rs2061284724
|
|
NM_032043.3(BRIP1):c.-232G>A
|
rs2078998991
|
|
NM_032043.3(BRIP1):c.-38C>T
|
rs371225829
|
|
NM_032043.3(BRIP1):c.1000G>T (p.Ala334Ser)
|
rs535414791
|
|
NM_032043.3(BRIP1):c.1001C>G (p.Ala334Gly)
|
|
|
NM_032043.3(BRIP1):c.1006G>A (p.Asp336Asn)
|
|
|
NM_032043.3(BRIP1):c.1007A>T (p.Asp336Val)
|
|
|
NM_032043.3(BRIP1):c.1009A>G (p.Ile337Val)
|
rs1365389773
|
|
NM_032043.3(BRIP1):c.1009A>T (p.Ile337Leu)
|
|
|
NM_032043.3(BRIP1):c.100A>G (p.Arg34Gly)
|
rs2145852980
|
|
NM_032043.3(BRIP1):c.1010T>C (p.Ile337Thr)
|
rs2077990704
|
|
NM_032043.3(BRIP1):c.1012G>A (p.Glu338Lys)
|
rs777653224
|
|
NM_032043.3(BRIP1):c.1012G>C (p.Glu338Gln)
|
|
|
NM_032043.3(BRIP1):c.1015G>A (p.Glu339Lys)
|
rs2145337853
|
|
NM_032043.3(BRIP1):c.1019T>C (p.Leu340Pro)
|
|
|
NM_032043.3(BRIP1):c.1021G>A (p.Val341Ile)
|
rs863224797
|
|
NM_032043.3(BRIP1):c.1022T>G (p.Val341Gly)
|
rs2145337483
|
|
NM_032043.3(BRIP1):c.1024A>C (p.Ser342Arg)
|
rs1603343284
|
|
NM_032043.3(BRIP1):c.1028T>C (p.Leu343Pro)
|
rs1414803437
|
|
NM_032043.3(BRIP1):c.1030G>A (p.Gly344Arg)
|
rs1555607734
|
|
NM_032043.3(BRIP1):c.1031G>A (p.Gly344Glu)
|
rs751841684
|
|
NM_032043.3(BRIP1):c.1032GAA[1] (p.Lys346del)
|
rs2145336622
|
|
NM_032043.3(BRIP1):c.1034A>C (p.Lys345Thr)
|
rs2077989830
|
|
NM_032043.3(BRIP1):c.1034A>G (p.Lys345Arg)
|
rs2077989830
|
|
NM_032043.3(BRIP1):c.1036A>G (p.Lys346Glu)
|
|
|
NM_032043.3(BRIP1):c.1040T>C (p.Leu347Pro)
|
rs786201819
|
|
NM_032043.3(BRIP1):c.1045G>A (p.Ala349Thr)
|
rs149364097
|
|
NM_032043.3(BRIP1):c.1045G>T (p.Ala349Ser)
|
rs149364097
|
|
NM_032043.3(BRIP1):c.1046C>T (p.Ala349Val)
|
rs1184306036
|
|
NM_032043.3(BRIP1):c.1048T>C (p.Cys350Arg)
|
rs876658173
|
|
NM_032043.3(BRIP1):c.1048T>G (p.Cys350Gly)
|
rs876658173
|
|
NM_032043.3(BRIP1):c.1049G>A (p.Cys350Tyr)
|
|
|
NM_032043.3(BRIP1):c.1058A>C (p.Tyr353Ser)
|
rs2077989056
|
|
NM_032043.3(BRIP1):c.1058A>G (p.Tyr353Cys)
|
|
|
NM_032043.3(BRIP1):c.1060A>G (p.Thr354Ala)
|
rs2145335496
|
|
NM_032043.3(BRIP1):c.1066C>G (p.Arg356Gly)
|
rs730881633
|
|
NM_032043.3(BRIP1):c.1067G>A (p.Arg356Gln)
|
rs1289648562
|
|
NM_032043.3(BRIP1):c.1069G>A (p.Glu357Lys)
|
rs769081927
|
|
NM_032043.3(BRIP1):c.1072C>A (p.Leu358Ile)
|
rs775191379
|
|
NM_032043.3(BRIP1):c.1076T>C (p.Ile359Thr)
|
rs2145334735
|
|
NM_032043.3(BRIP1):c.107T>C (p.Leu36Ser)
|
rs1060501767
|
|
NM_032043.3(BRIP1):c.1081G>A (p.Asp361Asn)
|
rs1060501737
|
|
NM_032043.3(BRIP1):c.1081G>T (p.Asp361Tyr)
|
rs1060501737
|
|
NM_032043.3(BRIP1):c.108A>C (p.Leu36Phe)
|
rs774586397
|
|
NM_032043.3(BRIP1):c.1090A>G (p.Ile364Val)
|
rs770306753
|
|
NM_032043.3(BRIP1):c.1091T>C (p.Ile364Thr)
|
rs2077987772
|
|
NM_032043.3(BRIP1):c.1093A>C (p.Ile365Leu)
|
rs749251680
|
|
NM_032043.3(BRIP1):c.1093A>G (p.Ile365Val)
|
rs749251680
|
|
NM_032043.3(BRIP1):c.1098T>G (p.Phe366Leu)
|
|
|
NM_032043.3(BRIP1):c.1099T>C (p.Cys367Arg)
|
rs1567831592
|
|
NM_032043.3(BRIP1):c.1102C>T (p.Pro368Ser)
|
rs1555607669
|
|
NM_032043.3(BRIP1):c.1103C>T (p.Pro368Leu)
|
|
|
NM_032043.3(BRIP1):c.1106A>C (p.Tyr369Ser)
|
rs786202218
|
|
NM_032043.3(BRIP1):c.1106A>G (p.Tyr369Cys)
|
rs786202218
|
|
NM_032043.3(BRIP1):c.110A>G (p.Asn37Ser)
|
rs876659105
|
|
NM_032043.3(BRIP1):c.1112A>G (p.Tyr371Cys)
|
rs1060501768
|
|
NM_032043.3(BRIP1):c.1112A>T (p.Tyr371Phe)
|
|
|
NM_032043.3(BRIP1):c.1114C>A (p.Leu372Ile)
|
rs786202637
|
|
NM_032043.3(BRIP1):c.1119A>G (p.Leu373=)
|
|
|
NM_032043.3(BRIP1):c.1122T>A (p.Asp374Glu)
|
|
|
NM_032043.3(BRIP1):c.1123G>A (p.Ala375Thr)
|
rs878855135
|
|
NM_032043.3(BRIP1):c.1124C>T (p.Ala375Val)
|
rs786202192
|
|
NM_032043.3(BRIP1):c.1129A>G (p.Ile377Val)
|
rs876659688
|
|
NM_032043.3(BRIP1):c.112A>G (p.Ser38Gly)
|
rs2145852551
|
|
NM_032043.3(BRIP1):c.1131A>G (p.Ile377Met)
|
rs927733243
|
|
NM_032043.3(BRIP1):c.1133G>A (p.Arg378Lys)
|
rs1555607637
|
|
NM_032043.3(BRIP1):c.1136A>G (p.Glu379Gly)
|
rs1555607635
|
|
NM_032043.3(BRIP1):c.1138A>G (p.Ser380Gly)
|
rs1555607633
|
|
NM_032043.3(BRIP1):c.1139G>A (p.Ser380Asn)
|
rs569696977
|
|
NM_032043.3(BRIP1):c.1139G>T (p.Ser380Ile)
|
rs569696977
|
|
NM_032043.3(BRIP1):c.113G>A (p.Ser38Asn)
|
rs1555618429
|
|
NM_032043.3(BRIP1):c.1140+3G>A
|
rs1322162359
|
|
NM_032043.3(BRIP1):c.1140+3G>T
|
rs1322162359
|
|
NM_032043.3(BRIP1):c.1140+4A>T
|
rs2077985597
|
|
NM_032043.3(BRIP1):c.1140+7A>G
|
rs1299846526
|
|
NM_032043.3(BRIP1):c.1141-3T>C
|
rs773264592
|
|
NM_032043.3(BRIP1):c.1141-5T>A
|
rs1060501760
|
|
NM_032043.3(BRIP1):c.1141-6T>A
|
|
|
NM_032043.3(BRIP1):c.1141-7_1141-3del
|
rs1060501744
|
|
NM_032043.3(BRIP1):c.1142T>A (p.Met381Lys)
|
rs1060501741
|
|
NM_032043.3(BRIP1):c.1142T>C (p.Met381Thr)
|
rs1060501741
|
|
NM_032043.3(BRIP1):c.1144G>A (p.Asp382Asn)
|
rs1452168198
|
|
NM_032043.3(BRIP1):c.1144G>T (p.Asp382Tyr)
|
|
|
NM_032043.3(BRIP1):c.1147T>G (p.Leu383Val)
|
rs1603342360
|
|
NM_032043.3(BRIP1):c.114C>A (p.Ser38Arg)
|
rs2078951392
|
|
NM_032043.3(BRIP1):c.1150A>T (p.Asn384Tyr)
|
rs1603342354
|
|
NM_032043.3(BRIP1):c.1151A>G (p.Asn384Ser)
|
rs1060501750
|
|
NM_032043.3(BRIP1):c.1156A>G (p.Lys386Glu)
|
rs730881635
|
|
NM_032043.3(BRIP1):c.1159G>A (p.Glu387Lys)
|
rs1555607230
|
|
NM_032043.3(BRIP1):c.1161_1163del (p.Gln388del)
|
rs2145309517
|
|
NM_032043.3(BRIP1):c.1164G>T (p.Gln388His)
|
rs1603342334
|
|
NM_032043.3(BRIP1):c.1165G>A (p.Val389Ile)
|
rs587780825
|
|
NM_032043.3(BRIP1):c.1165G>C (p.Val389Leu)
|
rs587780825
|
|
NM_032043.3(BRIP1):c.1165G>T (p.Val389Phe)
|
rs587780825
|
|
NM_032043.3(BRIP1):c.1166T>C (p.Val389Ala)
|
rs2145309289
|
|
NM_032043.3(BRIP1):c.1166T>G (p.Val389Gly)
|
|
|
NM_032043.3(BRIP1):c.1168G>A (p.Val390Ile)
|
rs781168634
|
|
NM_032043.3(BRIP1):c.1168G>T (p.Val390Phe)
|
rs781168634
|
|
NM_032043.3(BRIP1):c.1173T>G (p.Ile391Met)
|
rs1427603031
|
|
NM_032043.3(BRIP1):c.1177G>C (p.Asp393His)
|
rs1555607200
|
|
NM_032043.3(BRIP1):c.1180G>C (p.Glu394Gln)
|
rs2077952602
|
|
NM_032043.3(BRIP1):c.1183G>A (p.Ala395Thr)
|
rs2077952484
|
|
NM_032043.3(BRIP1):c.1184C>T (p.Ala395Val)
|
rs778992385
|
|
NM_032043.3(BRIP1):c.1186C>G (p.His396Asp)
|
rs1603342316
|
|
NM_032043.3(BRIP1):c.1189A>C (p.Asn397His)
|
rs587782039
|
|
NM_032043.3(BRIP1):c.118C>G (p.Gln40Glu)
|
|
|
NM_032043.3(BRIP1):c.1190A>T (p.Asn397Ile)
|
|
|
NM_032043.3(BRIP1):c.1193T>G (p.Ile398Ser)
|
rs2145307952
|
|
NM_032043.3(BRIP1):c.1195G>C (p.Glu399Gln)
|
rs587782816
|
|
NM_032043.3(BRIP1):c.1197G>C (p.Glu399Asp)
|
rs1567829526
|
|
NM_032043.3(BRIP1):c.119A>C (p.Gln40Pro)
|
rs2078951315
|
|
NM_032043.3(BRIP1):c.11T>C (p.Met4Thr)
|
rs2078973570
|
|
NM_032043.3(BRIP1):c.1201T>C (p.Cys401Arg)
|
rs756636362
|
|
NM_032043.3(BRIP1):c.1205C>T (p.Ala402Val)
|
rs876659282
|
|
NM_032043.3(BRIP1):c.1207C>G (p.Arg403Gly)
|
rs369631413
|
|
NM_032043.3(BRIP1):c.1219A>G (p.Ser407Gly)
|
rs1555607156
|
|
NM_032043.3(BRIP1):c.121C>T (p.His41Tyr)
|
rs770930270
|
|
NM_032043.3(BRIP1):c.1221T>G (p.Ser407Arg)
|
rs2077950726
|
|
NM_032043.3(BRIP1):c.1225A>G (p.Ser409Gly)
|
|
|
NM_032043.3(BRIP1):c.1226G>A (p.Ser409Asn)
|
rs587782247
|
|
NM_032043.3(BRIP1):c.1226G>C (p.Ser409Thr)
|
rs587782247
|
|
NM_032043.3(BRIP1):c.1228G>A (p.Val410Ile)
|
rs2145305888
|
|
NM_032043.3(BRIP1):c.1228G>C (p.Val410Leu)
|
|
|
NM_032043.3(BRIP1):c.1237G>C (p.Val413Leu)
|
rs2145305445
|
|
NM_032043.3(BRIP1):c.1238T>C (p.Val413Ala)
|
rs45576134
|
|
NM_032043.3(BRIP1):c.1242G>C (p.Gln414His)
|
rs1257200897
|
|
NM_032043.3(BRIP1):c.1247G>T (p.Arg416Leu)
|
|
|
NM_032043.3(BRIP1):c.124T>C (p.Cys42Arg)
|
rs1567877037
|
|
NM_032043.3(BRIP1):c.124T>G (p.Cys42Gly)
|
rs1567877037
|
|
NM_032043.3(BRIP1):c.1250T>A (p.Phe417Tyr)
|
|
|
NM_032043.3(BRIP1):c.1251T>A (p.Phe417Leu)
|
rs2077949494
|
|
NM_032043.3(BRIP1):c.1252G>A (p.Ala418Thr)
|
|
|
NM_032043.3(BRIP1):c.1252G>T (p.Ala418Ser)
|
rs1567829310
|
|
NM_032043.3(BRIP1):c.1255C>G (p.Arg419Gly)
|
rs150624408
|
|
NM_032043.3(BRIP1):c.1256G>C (p.Arg419Pro)
|
|
|
NM_032043.3(BRIP1):c.1258G>A (p.Asp420Asn)
|
rs2077949084
|
|
NM_032043.3(BRIP1):c.125G>T (p.Cys42Phe)
|
rs1555618423
|
|
NM_032043.3(BRIP1):c.1261G>A (p.Glu421Lys)
|
rs2077949016
|
|
NM_032043.3(BRIP1):c.1262A>T (p.Glu421Val)
|
rs2077948964
|
|
NM_032043.3(BRIP1):c.1267G>C (p.Asp423His)
|
|
|
NM_032043.3(BRIP1):c.1270A>C (p.Ser424Arg)
|
rs1028779004
|
|
NM_032043.3(BRIP1):c.1270A>G (p.Ser424Gly)
|
rs1028779004
|
|
NM_032043.3(BRIP1):c.1271G>A (p.Ser424Asn)
|
rs1354610577
|
|
NM_032043.3(BRIP1):c.1273A>G (p.Met425Val)
|
rs1567829230
|
|
NM_032043.3(BRIP1):c.1274T>C (p.Met425Thr)
|
|
|
NM_032043.3(BRIP1):c.1275G>A (p.Met425Ile)
|
rs1555607086
|
|
NM_032043.3(BRIP1):c.1280A>G (p.Asn427Ser)
|
rs1466605276
|
|
NM_032043.3(BRIP1):c.1283A>C (p.Asn428Thr)
|
rs779237423
|
|
NM_032043.3(BRIP1):c.1285A>C (p.Asn429His)
|
|
|
NM_032043.3(BRIP1):c.1285A>G (p.Asn429Asp)
|
rs1555607082
|
|
NM_032043.3(BRIP1):c.1288A>G (p.Ile430Val)
|
rs1567829158
|
|
NM_032043.3(BRIP1):c.1288A>T (p.Ile430Leu)
|
rs1567829158
|
|
NM_032043.3(BRIP1):c.1289T>A (p.Ile430Lys)
|
|
|
NM_032043.3(BRIP1):c.1289T>C (p.Ile430Thr)
|
rs1555607077
|
|
NM_032043.3(BRIP1):c.1291A>T (p.Arg431Trp)
|
|
|
NM_032043.3(BRIP1):c.1292G>A (p.Arg431Lys)
|
rs1328630889
|
|
NM_032043.3(BRIP1):c.129G>T (p.Leu43Phe)
|
rs2145852056
|
|
NM_032043.3(BRIP1):c.12G>A (p.Met4Ile)
|
rs1386396228
|
|
NM_032043.3(BRIP1):c.1301A>C (p.Asp434Ala)
|
rs1567829117
|
|
NM_032043.3(BRIP1):c.1301A>G (p.Asp434Gly)
|
rs1567829117
|
|
NM_032043.3(BRIP1):c.1301A>T (p.Asp434Val)
|
rs1567829117
|
|
NM_032043.3(BRIP1):c.1303C>T (p.His435Tyr)
|
rs1060501758
|
|
NM_032043.3(BRIP1):c.1305T>G (p.His435Gln)
|
rs1352266926
|
|
NM_032043.3(BRIP1):c.1307A>T (p.Glu436Val)
|
|
|
NM_032043.3(BRIP1):c.1309C>G (p.Pro437Ala)
|
rs878855137
|
|
NM_032043.3(BRIP1):c.1313T>C (p.Leu438Pro)
|
rs1555607056
|
|
NM_032043.3(BRIP1):c.1318G>T (p.Ala440Ser)
|
rs2145300568
|
|
NM_032043.3(BRIP1):c.1322T>G (p.Val441Gly)
|
rs1458068665
|
|
NM_032043.3(BRIP1):c.1324T>C (p.Cys442Arg)
|
rs1603342146
|
|
NM_032043.3(BRIP1):c.1324T>G (p.Cys442Gly)
|
|
|
NM_032043.3(BRIP1):c.1325G>C (p.Cys442Ser)
|
rs1555607040
|
|
NM_032043.3(BRIP1):c.1327T>C (p.Cys443Arg)
|
|
|
NM_032043.3(BRIP1):c.1328G>A (p.Cys443Tyr)
|
rs1555607035
|
|
NM_032043.3(BRIP1):c.1329T>C (p.Cys443=)
|
rs2145299845
|
|
NM_032043.3(BRIP1):c.1330A>G (p.Ser444Gly)
|
|
|
NM_032043.3(BRIP1):c.1331G>C (p.Ser444Thr)
|
rs1603342140
|
|
NM_032043.3(BRIP1):c.1332C>A (p.Ser444Arg)
|
rs200581792
|
|
NM_032043.3(BRIP1):c.1332C>G (p.Ser444Arg)
|
rs200581792
|
|
NM_032043.3(BRIP1):c.1336A>C (p.Ile446Leu)
|
rs786203496
|
|
NM_032043.3(BRIP1):c.1336A>G (p.Ile446Val)
|
rs786203496
|
|
NM_032043.3(BRIP1):c.1337T>C (p.Ile446Thr)
|
rs1555607024
|
|
NM_032043.3(BRIP1):c.1339A>C (p.Asn447His)
|
rs2077945752
|
|
NM_032043.3(BRIP1):c.133G>A (p.Glu45Lys)
|
rs587781292
|
|
NM_032043.3(BRIP1):c.133G>C (p.Glu45Gln)
|
rs587781292
|
|
NM_032043.3(BRIP1):c.1340+3A>C
|
rs1060501770
|
|
NM_032043.3(BRIP1):c.1340+6A>T
|
|
|
NM_032043.3(BRIP1):c.1340+9A>G
|
rs376487588
|
|
NM_032043.3(BRIP1):c.1340A>C (p.Asn447Thr)
|
rs1603342134
|
|
NM_032043.3(BRIP1):c.1341-3C>G
|
rs864622597
|
|
NM_032043.3(BRIP1):c.1341-5T>C
|
|
|
NM_032043.3(BRIP1):c.1341-6T>G
|
|
|
NM_032043.3(BRIP1):c.1343G>T (p.Trp448Leu)
|
rs775171520
|
|
NM_032043.3(BRIP1):c.1348G>A (p.Glu450Lys)
|
rs2077857156
|
|
NM_032043.3(BRIP1):c.1352C>T (p.Ala451Val)
|
rs771861055
|
|
NM_032043.3(BRIP1):c.1354A>G (p.Asn452Asp)
|
rs2077857017
|
|
NM_032043.3(BRIP1):c.1356C>G (p.Asn452Lys)
|
rs730881640
|
|
NM_032043.3(BRIP1):c.1360G>A (p.Glu454Lys)
|
|
|
NM_032043.3(BRIP1):c.1361A>C (p.Glu454Ala)
|
rs769918040
|
|
NM_032043.3(BRIP1):c.1362A>C (p.Glu454Asp)
|
rs786202553
|
|
NM_032043.3(BRIP1):c.1363T>C (p.Tyr455His)
|
rs587780826
|
|
NM_032043.3(BRIP1):c.1364A>G (p.Tyr455Cys)
|
rs2077856391
|
|
NM_032043.3(BRIP1):c.1366C>A (p.Leu456Ile)
|
rs1379791142
|
|
NM_032043.3(BRIP1):c.1366C>G (p.Leu456Val)
|
|
|
NM_032043.3(BRIP1):c.1367T>A (p.Leu456His)
|
rs1555605947
|
|
NM_032043.3(BRIP1):c.1369G>A (p.Val457Ile)
|
rs748221377
|
|
NM_032043.3(BRIP1):c.1369G>T (p.Val457Leu)
|
rs748221377
|
|
NM_032043.3(BRIP1):c.1370T>G (p.Val457Gly)
|
rs1369274888
|
|
NM_032043.3(BRIP1):c.1373A>G (p.Glu458Gly)
|
rs1555605942
|
|
NM_032043.3(BRIP1):c.1374A>C (p.Glu458Asp)
|
rs2145243668
|
|
NM_032043.3(BRIP1):c.1377A>T (p.Arg459Ser)
|
rs780310294
|
|
NM_032043.3(BRIP1):c.137G>A (p.Ser46Asn)
|
rs1567877002
|
|
NM_032043.3(BRIP1):c.1382A>G (p.Tyr461Cys)
|
|
|
NM_032043.3(BRIP1):c.1384G>C (p.Glu462Gln)
|
rs1603340353
|
|
NM_032043.3(BRIP1):c.1387T>C (p.Ser463Pro)
|
rs1555605920
|
|
NM_032043.3(BRIP1):c.1393T>A (p.Cys465Ser)
|
|
|
NM_032043.3(BRIP1):c.1399A>T (p.Ile467Leu)
|
|
|
NM_032043.3(BRIP1):c.139C>A (p.Pro47Thr)
|
rs28903098
|
|
NM_032043.3(BRIP1):c.13T>G (p.Trp5Gly)
|
rs2078973498
|
|
NM_032043.3(BRIP1):c.1401A>G (p.Ile467Met)
|
rs764979728
|
|
NM_032043.3(BRIP1):c.1402T>C (p.Trp468Arg)
|
rs1369814158
|
|
NM_032043.3(BRIP1):c.1405A>T (p.Ser469Cys)
|
rs2077854841
|
|
NM_032043.3(BRIP1):c.1406G>A (p.Ser469Asn)
|
|
|
NM_032043.3(BRIP1):c.1408G>A (p.Gly470Arg)
|
rs1603340339
|
|
NM_032043.3(BRIP1):c.1412A>G (p.Asn471Ser)
|
rs1555605906
|
|
NM_032043.3(BRIP1):c.1414G>C (p.Glu472Gln)
|
rs1555605902
|
|
NM_032043.3(BRIP1):c.1419G>T (p.Met473Ile)
|
|
|
NM_032043.3(BRIP1):c.1421T>A (p.Leu474His)
|
|
|
NM_032043.3(BRIP1):c.1423T>G (p.Leu475Val)
|
|
|
NM_032043.3(BRIP1):c.1427C>G (p.Thr476Ser)
|
rs1567825164
|
|
NM_032043.3(BRIP1):c.1432C>T (p.His478Tyr)
|
rs761452695
|
|
NM_032043.3(BRIP1):c.1433A>C (p.His478Pro)
|
rs45501097
|
|
NM_032043.3(BRIP1):c.1434C>A (p.His478Gln)
|
rs2077853857
|
|
NM_032043.3(BRIP1):c.1435A>G (p.Lys479Glu)
|
rs2077853790
|
|
NM_032043.3(BRIP1):c.1436A>G (p.Lys479Arg)
|
|
|
NM_032043.3(BRIP1):c.1438A>G (p.Met480Val)
|
rs1422020047
|
|
NM_032043.3(BRIP1):c.143C>G (p.Thr48Arg)
|
rs755317452
|
|
NM_032043.3(BRIP1):c.143C>T (p.Thr48Ile)
|
rs755317452
|
|
NM_032043.3(BRIP1):c.1440G>A (p.Met480Ile)
|
|
|
NM_032043.3(BRIP1):c.1440G>C (p.Met480Ile)
|
rs1555605887
|
|
NM_032043.3(BRIP1):c.1441G>A (p.Gly481Ser)
|
rs587780229
|
|
NM_032043.3(BRIP1):c.1442G>T (p.Gly481Val)
|
rs200062099
|
|
NM_032043.3(BRIP1):c.1446C>G (p.Ile482Met)
|
rs759360709
|
|
NM_032043.3(BRIP1):c.1448C>G (p.Thr483Ser)
|
rs1555605874
|
|
NM_032043.3(BRIP1):c.1451C>T (p.Thr484Ile)
|
rs2145239872
|
|
NM_032043.3(BRIP1):c.1453G>A (p.Ala485Thr)
|
rs2077853006
|
|
NM_032043.3(BRIP1):c.1453_1455del (p.Ala485del)
|
rs2077852941
|
|
NM_032043.3(BRIP1):c.1454C>A (p.Ala485Asp)
|
|
|
NM_032043.3(BRIP1):c.1456A>G (p.Thr486Ala)
|
|
|
NM_032043.3(BRIP1):c.1457C>T (p.Thr486Ile)
|
rs1603340296
|
|
NM_032043.3(BRIP1):c.1462C>T (p.Pro488Ser)
|
rs1450320184
|
|
NM_032043.3(BRIP1):c.1463C>T (p.Pro488Leu)
|
rs1237035767
|
|
NM_032043.3(BRIP1):c.1465A>G (p.Ile489Val)
|
rs1555605855
|
|
NM_032043.3(BRIP1):c.1469T>C (p.Leu490Ser)
|
|
|
NM_032043.3(BRIP1):c.1469T>G (p.Leu490Trp)
|
rs2077852333
|
|
NM_032043.3(BRIP1):c.1470G>T (p.Leu490Phe)
|
rs1567824994
|
|
NM_032043.3(BRIP1):c.1472A>G (p.Gln491Arg)
|
rs1555605852
|
|
NM_032043.3(BRIP1):c.1472A>T (p.Gln491Leu)
|
rs1555605852
|
|
NM_032043.3(BRIP1):c.1473+3A>T
|
rs2077852092
|
|
NM_032043.3(BRIP1):c.1473+4_1473+8del
|
rs730881650
|
|
NM_032043.3(BRIP1):c.1473G>C (p.Gln491His)
|
|
|
NM_032043.3(BRIP1):c.1474-10T>C
|
rs1555603645
|
|
NM_032043.3(BRIP1):c.1474-11A>G
|
rs1230175864
|
|
NM_032043.3(BRIP1):c.1474-5T>G
|
|
|
NM_032043.3(BRIP1):c.1474G>A (p.Gly492Arg)
|
rs2145142389
|
|
NM_032043.3(BRIP1):c.1475G>T (p.Gly492Val)
|
rs2077672955
|
|
NM_032043.3(BRIP1):c.1477C>T (p.His493Tyr)
|
rs1555603628
|
|
NM_032043.3(BRIP1):c.1478A>T (p.His493Leu)
|
rs1555603626
|
|
NM_032043.3(BRIP1):c.1480T>C (p.Phe494Leu)
|
|
|
NM_032043.3(BRIP1):c.1483T>G (p.Ser495Ala)
|
rs1555603617
|
|
NM_032043.3(BRIP1):c.1484C>A (p.Ser495Tyr)
|
rs536081549
|
|
NM_032043.3(BRIP1):c.1487C>T (p.Ala496Val)
|
rs1555603612
|
|
NM_032043.3(BRIP1):c.1489G>A (p.Val497Ile)
|
rs876658725
|
|
NM_032043.3(BRIP1):c.1489G>C (p.Val497Leu)
|
rs876658725
|
|
NM_032043.3(BRIP1):c.148A>G (p.Ser50Gly)
|
rs2078950409
|
|
NM_032043.3(BRIP1):c.1492C>A (p.Leu498Ile)
|
rs1603337024
|
|
NM_032043.3(BRIP1):c.1493T>A (p.Leu498His)
|
rs1555603600
|
|
NM_032043.3(BRIP1):c.1496A>G (p.Gln499Arg)
|
|
|
NM_032043.3(BRIP1):c.1497A>G (p.Gln499=)
|
rs1555603597
|
|
NM_032043.3(BRIP1):c.1498A>G (p.Lys500Glu)
|
rs2077672083
|
|
NM_032043.3(BRIP1):c.1501G>C (p.Glu501Gln)
|
|
|
NM_032043.3(BRIP1):c.1504G>A (p.Glu502Lys)
|
|
|
NM_032043.3(BRIP1):c.1507A>G (p.Lys503Glu)
|
rs1555603594
|
|
NM_032043.3(BRIP1):c.1509A>C (p.Lys503Asn)
|
rs1443429619
|
|
NM_032043.3(BRIP1):c.1511T>C (p.Ile504Thr)
|
rs755306832
|
|
NM_032043.3(BRIP1):c.1512C>G (p.Ile504Met)
|
rs876660478
|
|
NM_032043.3(BRIP1):c.1513T>C (p.Ser505Pro)
|
rs1603337009
|
|
NM_032043.3(BRIP1):c.1514C>T (p.Ser505Leu)
|
rs945661395
|
|
NM_032043.3(BRIP1):c.1516C>A (p.Pro506Thr)
|
rs2077671245
|
|
NM_032043.3(BRIP1):c.1516C>T (p.Pro506Ser)
|
rs2077671245
|
|
NM_032043.3(BRIP1):c.1517C>A (p.Pro506Gln)
|
rs2077671171
|
|
NM_032043.3(BRIP1):c.1517C>T (p.Pro506Leu)
|
|
|
NM_032043.3(BRIP1):c.1519A>G (p.Ile507Val)
|
rs1555603569
|
|
NM_032043.3(BRIP1):c.1522T>G (p.Tyr508Asp)
|
rs2077671034
|
|
NM_032043.3(BRIP1):c.1523A>G (p.Tyr508Cys)
|
rs1567817029
|
|
NM_032043.3(BRIP1):c.1526G>A (p.Gly509Asp)
|
rs1555603567
|
|
NM_032043.3(BRIP1):c.1528A>G (p.Lys510Glu)
|
rs1603336991
|
|
NM_032043.3(BRIP1):c.1529A>C (p.Lys510Thr)
|
|
|
NM_032043.3(BRIP1):c.1534G>A (p.Glu512Lys)
|
|
|
NM_032043.3(BRIP1):c.1535A>G (p.Glu512Gly)
|
|
|
NM_032043.3(BRIP1):c.1538C>T (p.Ala513Val)
|
|
|
NM_032043.3(BRIP1):c.1543G>A (p.Glu515Lys)
|
|
|
NM_032043.3(BRIP1):c.1545A>C (p.Glu515Asp)
|
rs1567816977
|
|
NM_032043.3(BRIP1):c.1546G>A (p.Val516Ile)
|
rs1567816972
|
|
NM_032043.3(BRIP1):c.1547T>A (p.Val516Glu)
|
rs2077670264
|
|
NM_032043.3(BRIP1):c.1549C>T (p.Pro517Ser)
|
rs1603336970
|
|
NM_032043.3(BRIP1):c.1550C>T (p.Pro517Leu)
|
rs786202169
|
|
NM_032043.3(BRIP1):c.1552G>A (p.Val518Ile)
|
rs786201701
|
|
NM_032043.3(BRIP1):c.1553T>A (p.Val518Asp)
|
rs1555603541
|
|
NM_032043.3(BRIP1):c.1555A>T (p.Ile519Phe)
|
rs2145137902
|
|
NM_032043.3(BRIP1):c.1556T>C (p.Ile519Thr)
|
rs1555603538
|
|
NM_032043.3(BRIP1):c.1558A>G (p.Ser520Gly)
|
rs2077669665
|
|
NM_032043.3(BRIP1):c.1559G>A (p.Ser520Asn)
|
rs757629526
|
|
NM_032043.3(BRIP1):c.1561G>A (p.Ala521Thr)
|
rs913184257
|
|
NM_032043.3(BRIP1):c.1562C>T (p.Ala521Val)
|
rs2077669449
|
|
NM_032043.3(BRIP1):c.1564T>C (p.Ser522Pro)
|
rs2077669404
|
|
NM_032043.3(BRIP1):c.1567A>G (p.Thr523Ala)
|
rs1555603510
|
|
NM_032043.3(BRIP1):c.1568C>T (p.Thr523Ile)
|
rs1060501764
|
|
NM_032043.3(BRIP1):c.156A>C (p.Lys52Asn)
|
rs1603367700
|
|
NM_032043.3(BRIP1):c.1571A>C (p.Gln524Pro)
|
rs587781726
|
|
NM_032043.3(BRIP1):c.1571A>T (p.Gln524Leu)
|
|
|
NM_032043.3(BRIP1):c.1571_1573del (p.Gln524_Ile525delinsLeu)
|
rs1064795196
|
|
NM_032043.3(BRIP1):c.1577T>A (p.Met526Lys)
|
|
|
NM_032043.3(BRIP1):c.1578G>A (p.Met526Ile)
|
rs2077668951
|
|
NM_032043.3(BRIP1):c.1580T>G (p.Leu527Arg)
|
rs1603336934
|
|
NM_032043.3(BRIP1):c.1582A>G (p.Lys528Glu)
|
rs748962730
|
|
NM_032043.3(BRIP1):c.1585G>C (p.Gly529Arg)
|
rs876659321
|
|
NM_032043.3(BRIP1):c.1588C>T (p.Leu530Phe)
|
rs1326418771
|
|
NM_032043.3(BRIP1):c.1589T>C (p.Leu530Pro)
|
rs1603336923
|
|
NM_032043.3(BRIP1):c.158G>A (p.Ser53Asn)
|
rs751182362
|
|
NM_032043.3(BRIP1):c.158_159delinsTT (p.Ser53Ile)
|
rs786202417
|
|
NM_032043.3(BRIP1):c.1591T>G (p.Phe531Val)
|
rs4988350
|
|
NM_032043.3(BRIP1):c.1592T>C (p.Phe531Ser)
|
rs878855139
|
|
NM_032043.3(BRIP1):c.1594A>T (p.Met532Leu)
|
|
|
NM_032043.3(BRIP1):c.1596G>A (p.Met532Ile)
|
rs2145136186
|
|
NM_032043.3(BRIP1):c.15G>C (p.Trp5Cys)
|
rs2078973424
|
|
NM_032043.3(BRIP1):c.1601T>C (p.Leu534Pro)
|
|
|
NM_032043.3(BRIP1):c.1603G>C (p.Asp535His)
|
|
|
NM_032043.3(BRIP1):c.1609C>G (p.Leu537Val)
|
rs864622208
|
|
NM_032043.3(BRIP1):c.1610T>C (p.Leu537Pro)
|
rs1567816751
|
|
NM_032043.3(BRIP1):c.1612T>C (p.Phe538Leu)
|
rs1603336907
|
|
NM_032043.3(BRIP1):c.1616G>A (p.Arg539Lys)
|
rs199616792
|
|
NM_032043.3(BRIP1):c.1620A>G (p.Gln540=)
|
rs2145135063
|
|
NM_032043.3(BRIP1):c.1623T>G (p.Asn541Lys)
|
rs786203897
|
|
NM_032043.3(BRIP1):c.1626_1628del (p.Ser542del)
|
rs1555603461
|
|
NM_032043.3(BRIP1):c.1628+4del
|
|
|
NM_032043.3(BRIP1):c.1628+5G>A
|
rs754929230
|
|
NM_032043.3(BRIP1):c.1628+6T>C
|
rs1567816699
|
|
NM_032043.3(BRIP1):c.1628+6T>G
|
rs1567816699
|
|
NM_032043.3(BRIP1):c.1629-3T>G
|
|
|
NM_032043.3(BRIP1):c.1637A>G (p.Asp546Gly)
|
rs2077612367
|
|
NM_032043.3(BRIP1):c.1639G>T (p.Asp547Tyr)
|
|
|
NM_032043.3(BRIP1):c.1640A>G (p.Asp547Gly)
|
rs2077612324
|
|
NM_032043.3(BRIP1):c.1643A>C (p.Tyr548Ser)
|
rs587782405
|
|
NM_032043.3(BRIP1):c.1643A>G (p.Tyr548Cys)
|
rs587782405
|
|
NM_032043.3(BRIP1):c.164C>T (p.Ala55Val)
|
rs1603367684
|
|
NM_032043.3(BRIP1):c.1651G>C (p.Ala551Pro)
|
rs766302517
|
|
NM_032043.3(BRIP1):c.1652C>T (p.Ala551Val)
|
rs375246789
|
|
NM_032043.3(BRIP1):c.1654A>G (p.Ile552Val)
|
rs1603334819
|
|
NM_032043.3(BRIP1):c.1659A>C (p.Gln553His)
|
rs876660693
|
|
NM_032043.3(BRIP1):c.1661A>T (p.Gln554Leu)
|
|
|
NM_032043.3(BRIP1):c.1662G>C (p.Gln554His)
|
rs1060501749
|
|
NM_032043.3(BRIP1):c.1663A>G (p.Thr555Ala)
|
rs2077611229
|
|
NM_032043.3(BRIP1):c.1666T>C (p.Tyr556His)
|
rs752797989
|
|
NM_032043.3(BRIP1):c.1669T>C (p.Ser557Pro)
|
rs2145096206
|
|
NM_032043.3(BRIP1):c.1676C>G (p.Thr559Arg)
|
rs876658266
|
|
NM_032043.3(BRIP1):c.1678A>C (p.Asn560His)
|
|
|
NM_032043.3(BRIP1):c.1679A>T (p.Asn560Ile)
|
rs1555602592
|
|
NM_032043.3(BRIP1):c.1682A>C (p.Gln561Pro)
|
rs1603334713
|
|
NM_032043.3(BRIP1):c.1683G>C (p.Gln561His)
|
rs1209325148
|
|
NM_032043.3(BRIP1):c.1683G>T (p.Gln561His)
|
|
|
NM_032043.3(BRIP1):c.1685T>C (p.Ile562Thr)
|
rs2077610488
|
|
NM_032043.3(BRIP1):c.1687G>A (p.Asp563Asn)
|
rs2145095363
|
|
NM_032043.3(BRIP1):c.1687_1689del (p.Asp563del)
|
rs780590493
|
|
NM_032043.3(BRIP1):c.1688A>T (p.Asp563Val)
|
rs577768294
|
|
NM_032043.3(BRIP1):c.1691T>C (p.Ile564Thr)
|
rs755635967
|
|
NM_032043.3(BRIP1):c.1694C>T (p.Ser565Leu)
|
rs1603334619
|
|
NM_032043.3(BRIP1):c.1697A>C (p.Asp566Ala)
|
rs1603334596
|
|
NM_032043.3(BRIP1):c.1697A>T (p.Asp566Val)
|
rs1603334596
|
|
NM_032043.3(BRIP1):c.1698C>G (p.Asp566Glu)
|
|
|
NM_032043.3(BRIP1):c.1702A>T (p.Asn568Tyr)
|
rs2077609583
|
|
NM_032043.3(BRIP1):c.1702_1704del (p.Asn568del)
|
rs1555602554
|
|
NM_032043.3(BRIP1):c.1705G>C (p.Gly569Arg)
|
rs1259933364
|
|
NM_032043.3(BRIP1):c.1705G>T (p.Gly569Trp)
|
rs1259933364
|
|
NM_032043.3(BRIP1):c.1706G>A (p.Gly569Glu)
|
|
|
NM_032043.3(BRIP1):c.1706G>C (p.Gly569Ala)
|
rs373228183
|
|
NM_032043.3(BRIP1):c.1706G>T (p.Gly569Val)
|
rs373228183
|
|
NM_032043.3(BRIP1):c.1708TTG[1] (p.Leu571del)
|
rs754566378
|
|
NM_032043.3(BRIP1):c.1709T>C (p.Leu570Ser)
|
rs2077609103
|
|
NM_032043.3(BRIP1):c.1710G>C (p.Leu570Phe)
|
rs370087045
|
|
NM_032043.3(BRIP1):c.1713G>C (p.Leu571Phe)
|
|
|
NM_032043.3(BRIP1):c.1714G>A (p.Val572Ile)
|
rs1567813643
|
|
NM_032043.3(BRIP1):c.1714G>C (p.Val572Leu)
|
rs1567813643
|
|
NM_032043.3(BRIP1):c.1715T>G (p.Val572Gly)
|
rs1603334516
|
|
NM_032043.3(BRIP1):c.1720C>T (p.Pro574Ser)
|
|
|
NM_032043.3(BRIP1):c.1721C>G (p.Pro574Arg)
|
|
|
NM_032043.3(BRIP1):c.1725A>G (p.Lys575=)
|
rs1555602537
|
|
NM_032043.3(BRIP1):c.1727A>G (p.Asn576Ser)
|
rs587778132
|
|
NM_032043.3(BRIP1):c.172T>C (p.Cys58Arg)
|
|
|
NM_032043.3(BRIP1):c.1730A>G (p.Lys577Arg)
|
rs1411869768
|
|
NM_032043.3(BRIP1):c.1731_1733del (p.Lys578del)
|
rs1355330975
|
|
NM_032043.3(BRIP1):c.1735C>A (p.Arg579Ser)
|
rs28997571
|
|
NM_032043.3(BRIP1):c.1738T>A (p.Ser580Thr)
|
|
|
NM_032043.3(BRIP1):c.1739C>T (p.Ser580Leu)
|
rs1356014648
|
|
NM_032043.3(BRIP1):c.173G>C (p.Cys58Ser)
|
rs749920386
|
|
NM_032043.3(BRIP1):c.1744C>A (p.Gln582Lys)
|
|
|
NM_032043.3(BRIP1):c.1751C>A (p.Thr584Asn)
|
rs2145092153
|
|
NM_032043.3(BRIP1):c.1751C>G (p.Thr584Ser)
|
rs2145092153
|
|
NM_032043.3(BRIP1):c.1753G>A (p.Ala585Thr)
|
|
|
NM_032043.3(BRIP1):c.1753G>C (p.Ala585Pro)
|
rs1603334364
|
|
NM_032043.3(BRIP1):c.1756G>C (p.Val586Leu)
|
|
|
NM_032043.3(BRIP1):c.1759C>A (p.His587Asn)
|
rs876660519
|
|
NM_032043.3(BRIP1):c.1760A>T (p.His587Leu)
|
rs876660646
|
|
NM_032043.3(BRIP1):c.1762G>A (p.Val588Met)
|
rs876660355
|
|
NM_032043.3(BRIP1):c.1766T>G (p.Leu589Arg)
|
|
|
NM_032043.3(BRIP1):c.176C>G (p.Ser59Cys)
|
|
|
NM_032043.3(BRIP1):c.176C>T (p.Ser59Phe)
|
rs2078949491
|
|
NM_032043.3(BRIP1):c.1770C>A (p.Asn590Lys)
|
|
|
NM_032043.3(BRIP1):c.1770C>G (p.Asn590Lys)
|
rs2077606990
|
|
NM_032043.3(BRIP1):c.1774T>C (p.Trp592Arg)
|
|
|
NM_032043.3(BRIP1):c.1774T>G (p.Trp592Gly)
|
rs587780231
|
|
NM_032043.3(BRIP1):c.1776G>T (p.Trp592Cys)
|
rs753023295
|
|
NM_032043.3(BRIP1):c.1780T>G (p.Leu594Val)
|
rs876658256
|
|
NM_032043.3(BRIP1):c.1780_1781delinsAA
|
|
|
NM_032043.3(BRIP1):c.1781T>C (p.Leu594Ser)
|
rs587781559
|
|
NM_032043.3(BRIP1):c.1782A>T (p.Leu594Phe)
|
rs1567813260
|
|
NM_032043.3(BRIP1):c.1787C>T (p.Pro596Leu)
|
rs864622155
|
|
NM_032043.3(BRIP1):c.1789G>T (p.Ala597Ser)
|
rs2077606219
|
|
NM_032043.3(BRIP1):c.178G>A (p.Ala60Thr)
|
rs1555618394
|
|
NM_032043.3(BRIP1):c.178G>C (p.Ala60Pro)
|
rs1555618394
|
|
NM_032043.3(BRIP1):c.1790C>G (p.Ala597Gly)
|
rs751667661
|
|
NM_032043.3(BRIP1):c.1794+13T>G
|
rs2145089397
|
|
NM_032043.3(BRIP1):c.1794+2dup
|
rs2077605901
|
|
NM_032043.3(BRIP1):c.1794+6C>T
|
rs1429375125
|
|
NM_032043.3(BRIP1):c.1795-16T>G
|
|
|
NM_032043.3(BRIP1):c.1795-17A>G
|
rs1567812766
|
|
NM_032043.3(BRIP1):c.1795G>A (p.Ala599Thr)
|
|
|
NM_032043.3(BRIP1):c.1795G>T (p.Ala599Ser)
|
rs2145081985
|
|
NM_032043.3(BRIP1):c.1796C>T (p.Ala599Val)
|
|
|
NM_032043.3(BRIP1):c.1799T>A (p.Phe600Tyr)
|
|
|
NM_032043.3(BRIP1):c.17C>T (p.Ser6Phe)
|
rs1603368484
|
|
NM_032043.3(BRIP1):c.1805A>G (p.Asp602Gly)
|
rs1555602221
|
|
NM_032043.3(BRIP1):c.1808T>A (p.Ile603Asn)
|
rs1555602215
|
|
NM_032043.3(BRIP1):c.1808T>C (p.Ile603Thr)
|
rs1555602215
|
|
NM_032043.3(BRIP1):c.1814G>A (p.Gly605Asp)
|
rs2145081033
|
|
NM_032043.3(BRIP1):c.1816A>C (p.Lys606Gln)
|
rs1386348664
|
|
NM_032043.3(BRIP1):c.1819G>T (p.Val607Phe)
|
|
|
NM_032043.3(BRIP1):c.181T>G (p.Leu61Val)
|
|
|
NM_032043.3(BRIP1):c.1824G>C (p.Gln608His)
|
rs1567812636
|
|
NM_032043.3(BRIP1):c.1825A>G (p.Thr609Ala)
|
rs189758577
|
|
NM_032043.3(BRIP1):c.1826C>G (p.Thr609Ser)
|
|
|
NM_032043.3(BRIP1):c.1826C>T (p.Thr609Ile)
|
|
|
NM_032043.3(BRIP1):c.1828A>G (p.Ile610Val)
|
|
|
NM_032043.3(BRIP1):c.1829T>C (p.Ile610Thr)
|
|
|
NM_032043.3(BRIP1):c.182T>C (p.Leu61Ser)
|
rs1567876917
|
|
NM_032043.3(BRIP1):c.1835T>C (p.Leu612Ser)
|
rs2077597358
|
|
NM_032043.3(BRIP1):c.1836G>T (p.Leu612Phe)
|
rs1464898721
|
|
NM_032043.3(BRIP1):c.1838C>T (p.Thr613Ile)
|
rs864622345
|
|
NM_032043.3(BRIP1):c.1840T>A (p.Ser614Thr)
|
rs2145079541
|
|
NM_032043.3(BRIP1):c.1841C>T (p.Ser614Phe)
|
|
|
NM_032043.3(BRIP1):c.1843G>A (p.Gly615Ser)
|
rs1555602203
|
|
NM_032043.3(BRIP1):c.1844G>A (p.Gly615Asp)
|
|
|
NM_032043.3(BRIP1):c.1844G>T (p.Gly615Val)
|
rs2077597056
|
|
NM_032043.3(BRIP1):c.1846A>G (p.Thr616Ala)
|
rs1397233707
|
|
NM_032043.3(BRIP1):c.1848A>G (p.Thr616=)
|
rs1603333238
|
|
NM_032043.3(BRIP1):c.184G>A (p.Ala62Thr)
|
rs786202861
|
|
NM_032043.3(BRIP1):c.184G>T (p.Ala62Ser)
|
rs786202861
|
|
NM_032043.3(BRIP1):c.1850T>C (p.Leu617Ser)
|
rs1064794095
|
|
NM_032043.3(BRIP1):c.1852T>A (p.Ser618Thr)
|
rs876660191
|
|
NM_032043.3(BRIP1):c.1852T>C (p.Ser618Pro)
|
rs876660191
|
|
NM_032043.3(BRIP1):c.1855C>G (p.Pro619Ala)
|
rs2077596661
|
|
NM_032043.3(BRIP1):c.1855C>T (p.Pro619Ser)
|
rs2077596661
|
|
NM_032043.3(BRIP1):c.1858A>G (p.Met620Val)
|
rs876658346
|
|
NM_032043.3(BRIP1):c.1859T>A (p.Met620Lys)
|
rs1555602185
|
|
NM_032043.3(BRIP1):c.1859T>C (p.Met620Thr)
|
rs1555602185
|
|
NM_032043.3(BRIP1):c.185C>T (p.Ala62Val)
|
rs2078949086
|
|
NM_032043.3(BRIP1):c.1861A>G (p.Lys621Glu)
|
|
|
NM_032043.3(BRIP1):c.1864T>C (p.Ser622Pro)
|
rs2077596367
|
|
NM_032043.3(BRIP1):c.1865C>T (p.Ser622Phe)
|
rs2077596312
|
|
NM_032043.3(BRIP1):c.1867T>A (p.Phe623Ile)
|
rs864622438
|
|
NM_032043.3(BRIP1):c.1867T>C (p.Phe623Leu)
|
rs864622438
|
|
NM_032043.3(BRIP1):c.1868T>G (p.Phe623Cys)
|
rs2145077916
|
|
NM_032043.3(BRIP1):c.1871C>T (p.Ser624Leu)
|
rs587781321
|
|
NM_032043.3(BRIP1):c.1874C>T (p.Ser625Leu)
|
|
|
NM_032043.3(BRIP1):c.1877A>T (p.Glu626Val)
|
rs2145077565
|
|
NM_032043.3(BRIP1):c.1879C>T (p.Leu627Phe)
|
rs2077595930
|
|
NM_032043.3(BRIP1):c.187T>A (p.Trp63Arg)
|
rs1603367652
|
|
NM_032043.3(BRIP1):c.1880T>A (p.Leu627His)
|
rs1567812479
|
|
NM_032043.3(BRIP1):c.1880T>G (p.Leu627Arg)
|
rs1567812479
|
|
NM_032043.3(BRIP1):c.1882G>A (p.Gly628Ser)
|
|
|
NM_032043.3(BRIP1):c.1883G>A (p.Gly628Asp)
|
rs1064794907
|
|
NM_032043.3(BRIP1):c.1883G>T (p.Gly628Val)
|
rs1064794907
|
|
NM_032043.3(BRIP1):c.1888A>G (p.Thr630Ala)
|
rs2077595608
|
|
NM_032043.3(BRIP1):c.1889C>A (p.Thr630Lys)
|
rs780407946
|
|
NM_032043.3(BRIP1):c.1894A>G (p.Thr632Ala)
|
rs1555602149
|
|
NM_032043.3(BRIP1):c.1894A>T (p.Thr632Ser)
|
rs1555602149
|
|
NM_032043.3(BRIP1):c.1895C>G (p.Thr632Ser)
|
|
|
NM_032043.3(BRIP1):c.1897A>C (p.Ile633Leu)
|
rs765314472
|
|
NM_032043.3(BRIP1):c.1898T>A (p.Ile633Asn)
|
rs587780232
|
|
NM_032043.3(BRIP1):c.1898T>C (p.Ile633Thr)
|
rs587780232
|
|
NM_032043.3(BRIP1):c.1901A>G (p.Gln634Arg)
|
rs2145076105
|
|
NM_032043.3(BRIP1):c.1902G>C (p.Gln634His)
|
rs1060501748
|
|
NM_032043.3(BRIP1):c.1904T>C (p.Leu635Pro)
|
rs2145075890
|
|
NM_032043.3(BRIP1):c.1906G>A (p.Glu636Lys)
|
rs1060501769
|
|
NM_032043.3(BRIP1):c.1909G>C (p.Ala637Pro)
|
rs541203428
|
|
NM_032043.3(BRIP1):c.1912A>G (p.Asn638Asp)
|
rs2077594670
|
|
NM_032043.3(BRIP1):c.1915C>A (p.His639Asn)
|
rs2145075261
|
|
NM_032043.3(BRIP1):c.1916A>G (p.His639Arg)
|
rs1603333030
|
|
NM_032043.3(BRIP1):c.1918A>G (p.Ile640Val)
|
rs2145075101
|
|
NM_032043.3(BRIP1):c.1919T>C (p.Ile640Thr)
|
rs1567812341
|
|
NM_032043.3(BRIP1):c.1921A>T (p.Ile641Phe)
|
rs1603333007
|
|
NM_032043.3(BRIP1):c.1927A>C (p.Asn643His)
|
rs2145074666
|
|
NM_032043.3(BRIP1):c.1930T>A (p.Ser644Thr)
|
rs2077594282
|
|
NM_032043.3(BRIP1):c.1933C>G (p.Gln645Glu)
|
rs2145074343
|
|
NM_032043.3(BRIP1):c.1935+4_1935+7del
|
rs766199221
|
|
NM_032043.3(BRIP1):c.1935+5G>A
|
rs1209289625
|
|
NM_032043.3(BRIP1):c.1935+5GTT[2]
|
rs730881641
|
|
NM_032043.3(BRIP1):c.1935+6T>C
|
rs1555602118
|
|
NM_032043.3(BRIP1):c.1935G>A (p.Gln645=)
|
rs1254051324
|
|
NM_032043.3(BRIP1):c.1936-12T>G
|
|
|
NM_032043.3(BRIP1):c.1936-12_1936-10del
|
rs2145034941
|
|
NM_032043.3(BRIP1):c.1936-4C>G
|
rs587780552
|
|
NM_032043.3(BRIP1):c.1936-5_1936-4delinsGT
|
rs587781481
|
|
NM_032043.3(BRIP1):c.1939T>G (p.Trp647Gly)
|
|
|
NM_032043.3(BRIP1):c.193C>A (p.Gln65Lys)
|
|
|
NM_032043.3(BRIP1):c.1941G>C (p.Trp647Cys)
|
rs786202760
|
|
NM_032043.3(BRIP1):c.1941G>T (p.Trp647Cys)
|
rs786202760
|
|
NM_032043.3(BRIP1):c.1943T>G (p.Val648Gly)
|
rs2077537998
|
|
NM_032043.3(BRIP1):c.1946G>A (p.Gly649Asp)
|
rs746066323
|
|
NM_032043.3(BRIP1):c.1946G>C (p.Gly649Ala)
|
rs746066323
|
|
NM_032043.3(BRIP1):c.1949C>T (p.Thr650Ile)
|
rs2077537888
|
|
NM_032043.3(BRIP1):c.194A>C (p.Gln65Pro)
|
rs1555618377
|
|
NM_032043.3(BRIP1):c.194_199del (p.Gln65_Ser66del)
|
rs2078948660
|
|
NM_032043.3(BRIP1):c.1951A>G (p.Ile651Val)
|
rs778867622
|
|
NM_032043.3(BRIP1):c.1958C>T (p.Ser653Leu)
|
rs756511744
|
|
NM_032043.3(BRIP1):c.195A>C (p.Gln65His)
|
rs141436143
|
|
NM_032043.3(BRIP1):c.1960G>A (p.Gly654Ser)
|
rs1567809053
|
|
NM_032043.3(BRIP1):c.1963C>T (p.Pro655Ser)
|
rs753036322
|
|
NM_032043.3(BRIP1):c.1964C>G (p.Pro655Arg)
|
rs767872111
|
|
NM_032043.3(BRIP1):c.1964C>T (p.Pro655Leu)
|
|
|
NM_032043.3(BRIP1):c.1967A>G (p.Lys656Arg)
|
rs1322017079
|
|
NM_032043.3(BRIP1):c.1968G>T (p.Lys656Asn)
|
rs1064793415
|
|
NM_032043.3(BRIP1):c.1969G>A (p.Gly657Ser)
|
|
|
NM_032043.3(BRIP1):c.1969G>T (p.Gly657Cys)
|
|
|
NM_032043.3(BRIP1):c.1970G>A (p.Gly657Asp)
|
rs1603328878
|
|
NM_032043.3(BRIP1):c.1970G>T (p.Gly657Val)
|
rs1603328878
|
|
NM_032043.3(BRIP1):c.1972C>G (p.Arg658Gly)
|
rs786203170
|
|
NM_032043.3(BRIP1):c.1973G>A (p.Arg658Gln)
|
rs759142191
|
|
NM_032043.3(BRIP1):c.1976A>G (p.Asn659Ser)
|
rs1213142447
|
|
NM_032043.3(BRIP1):c.1978C>T (p.Leu660Phe)
|
rs1060501746
|
|
NM_032043.3(BRIP1):c.197C>T (p.Ser66Phe)
|
rs2078948703
|
|
NM_032043.3(BRIP1):c.1982G>A (p.Cys661Tyr)
|
rs1160736353
|
|
NM_032043.3(BRIP1):c.1982G>T (p.Cys661Phe)
|
rs1160736353
|
|
NM_032043.3(BRIP1):c.1987A>G (p.Thr663Ala)
|
rs1567808933
|
|
NM_032043.3(BRIP1):c.1987A>T (p.Thr663Ser)
|
|
|
NM_032043.3(BRIP1):c.1994A>T (p.Gln665Leu)
|
rs2145031487
|
|
NM_032043.3(BRIP1):c.1996A>C (p.Asn666His)
|
rs765816425
|
|
NM_032043.3(BRIP1):c.1996A>G (p.Asn666Asp)
|
rs765816425
|
|
NM_032043.3(BRIP1):c.199C>G (p.Leu67Val)
|
|
|
NM_032043.3(BRIP1):c.199C>T (p.Leu67Phe)
|
|
|
NM_032043.3(BRIP1):c.19G>A (p.Glu7Lys)
|
rs1246321339
|
|
NM_032043.3(BRIP1):c.1A>T (p.Met1Leu)
|
rs764585550
|
|
NM_032043.3(BRIP1):c.1_2del (p.Met1fs)
|
rs876661246
|
|
NM_032043.3(BRIP1):c.2009T>C (p.Phe670Ser)
|
rs1555601107
|
|
NM_032043.3(BRIP1):c.2012A>G (p.Glu671Gly)
|
rs587778135
|
|
NM_032043.3(BRIP1):c.2018A>G (p.Gln673Arg)
|
rs786203619
|
|
NM_032043.3(BRIP1):c.2020G>A (p.Asp674Asn)
|
rs1567808842
|
|
NM_032043.3(BRIP1):c.2021A>G (p.Asp674Gly)
|
rs1555601087
|
|
NM_032043.3(BRIP1):c.2022T>G (p.Asp674Glu)
|
|
|
NM_032043.3(BRIP1):c.2024A>C (p.Glu675Ala)
|
rs1555601081
|
|
NM_032043.3(BRIP1):c.2026G>A (p.Val676Met)
|
rs2077535030
|
|
NM_032043.3(BRIP1):c.2029G>A (p.Gly677Arg)
|
rs1555601069
|
|
NM_032043.3(BRIP1):c.2029_2049del (p.Gly677_Val683del)
|
rs2077534052
|
|
NM_032043.3(BRIP1):c.202A>G (p.Ser68Gly)
|
|
|
NM_032043.3(BRIP1):c.2030G>A (p.Gly677Glu)
|
rs1567808797
|
|
NM_032043.3(BRIP1):c.2032G>A (p.Ala678Thr)
|
rs2077534711
|
|
NM_032043.3(BRIP1):c.2033C>T (p.Ala678Val)
|
rs1211313166
|
|
NM_032043.3(BRIP1):c.2035C>T (p.Leu679Phe)
|
rs1555601056
|
|
NM_032043.3(BRIP1):c.2039T>C (p.Leu680Ser)
|
rs2077534379
|
|
NM_032043.3(BRIP1):c.2044T>C (p.Ser682Pro)
|
rs2077534218
|
|
NM_032043.3(BRIP1):c.205+4A>G
|
rs1060501753
|
|
NM_032043.3(BRIP1):c.205+4A>T
|
|
|
NM_032043.3(BRIP1):c.2050T>G (p.Cys684Gly)
|
|
|
NM_032043.3(BRIP1):c.2051G>T (p.Cys684Phe)
|
rs2145028133
|
|
NM_032043.3(BRIP1):c.2054A>T (p.Gln685Leu)
|
rs2077533936
|
|
NM_032043.3(BRIP1):c.2055G>C (p.Gln685His)
|
rs1603328545
|
|
NM_032043.3(BRIP1):c.2055_2066del (p.Thr686_Gln689del)
|
rs2145027145
|
|
NM_032043.3(BRIP1):c.2059G>A (p.Val687Met)
|
rs876659296
|
|
NM_032043.3(BRIP1):c.205G>T (p.Gly69Trp)
|
rs372581879
|
|
NM_032043.3(BRIP1):c.206-15_206-14insTATTATAAATAGAC
|
|
|
NM_032043.3(BRIP1):c.206-1G>T
|
rs1555617934
|
|
NM_032043.3(BRIP1):c.2060T>C (p.Val687Ala)
|
rs1555601030
|
|
NM_032043.3(BRIP1):c.2063G>A (p.Ser688Asn)
|
|
|
NM_032043.3(BRIP1):c.2066A>G (p.Gln689Arg)
|
rs2145027105
|
|
NM_032043.3(BRIP1):c.2068G>A (p.Gly690Arg)
|
|
|
NM_032043.3(BRIP1):c.2069G>C (p.Gly690Ala)
|
|
|
NM_032043.3(BRIP1):c.2071A>G (p.Ile691Val)
|
rs587782356
|
|
NM_032043.3(BRIP1):c.2073T>G (p.Ile691Met)
|
|
|
NM_032043.3(BRIP1):c.2085G>T (p.Leu695Phe)
|
rs1555601008
|
|
NM_032043.3(BRIP1):c.2089T>C (p.Ser697Pro)
|
rs1603328426
|
|
NM_032043.3(BRIP1):c.208A>C (p.Lys70Gln)
|
|
|
NM_032043.3(BRIP1):c.2097+5G>T
|
|
|
NM_032043.3(BRIP1):c.2097+6G>A
|
rs1603328382
|
|
NM_032043.3(BRIP1):c.2097G>A (p.Lys699=)
|
rs1060501754
|
|
NM_032043.3(BRIP1):c.2098T>C (p.Leu700=)
|
rs2077034962
|
|
NM_032043.3(BRIP1):c.209A>C (p.Lys70Thr)
|
rs957072709
|
|
NM_032043.3(BRIP1):c.209A>G (p.Lys70Arg)
|
rs957072709
|
|
NM_032043.3(BRIP1):c.2102T>C (p.Leu701Ser)
|
rs876658270
|
|
NM_032043.3(BRIP1):c.2105A>G (p.Glu702Gly)
|
|
|
NM_032043.3(BRIP1):c.2107A>G (p.Lys703Glu)
|
|
|
NM_032043.3(BRIP1):c.2108A>G (p.Lys703Arg)
|
rs756412722
|
|
NM_032043.3(BRIP1):c.2119C>A (p.Arg707Ser)
|
rs764803896
|
|
NM_032043.3(BRIP1):c.2119C>G (p.Arg707Gly)
|
rs764803896
|
|
NM_032043.3(BRIP1):c.211C>A (p.Pro71Thr)
|
|
|
NM_032043.3(BRIP1):c.211C>T (p.Pro71Ser)
|
rs876659680
|
|
NM_032043.3(BRIP1):c.2120G>A (p.Arg707His)
|
rs200313471
|
|
NM_032043.3(BRIP1):c.2120G>T (p.Arg707Leu)
|
rs200313471
|
|
NM_032043.3(BRIP1):c.2121T>G (p.Arg707=)
|
rs1481107855
|
|
NM_032043.3(BRIP1):c.2125C>G (p.Leu709Val)
|
rs2077033994
|
|
NM_032043.3(BRIP1):c.2126T>C (p.Leu709Pro)
|
rs1567781600
|
|
NM_032043.3(BRIP1):c.2128T>G (p.Ser710Ala)
|
rs1555591505
|
|
NM_032043.3(BRIP1):c.2131A>C (p.Thr711Pro)
|
rs760515227
|
|
NM_032043.3(BRIP1):c.2131A>G (p.Thr711Ala)
|
rs760515227
|
|
NM_032043.3(BRIP1):c.2135G>A (p.Gly712Asp)
|
rs1060501755
|
|
NM_032043.3(BRIP1):c.2135G>C (p.Gly712Ala)
|
rs1060501755
|
|
NM_032043.3(BRIP1):c.2135G>T (p.Gly712Val)
|
rs1060501755
|
|
NM_032043.3(BRIP1):c.2140T>C (p.Trp714Arg)
|
rs1603304614
|
|
NM_032043.3(BRIP1):c.2143C>G (p.His715Asp)
|
rs2077033211
|
|
NM_032043.3(BRIP1):c.2144A>G (p.His715Arg)
|
rs1253181575
|
|
NM_032043.3(BRIP1):c.2146A>G (p.Asn716Asp)
|
rs1060501745
|
|
NM_032043.3(BRIP1):c.214G>A (p.Ala72Thr)
|
rs1357919929
|
|
NM_032043.3(BRIP1):c.2150T>C (p.Leu717Pro)
|
rs2077032975
|
|
NM_032043.3(BRIP1):c.2151G>A (p.Leu717=)
|
rs2077032938
|
|
NM_032043.3(BRIP1):c.2154G>C (p.Glu718Asp)
|
|
|
NM_032043.3(BRIP1):c.2157G>A (p.Leu719=)
|
|
|
NM_032043.3(BRIP1):c.2157G>T (p.Leu719Phe)
|
rs2144699040
|
|
NM_032043.3(BRIP1):c.2158G>A (p.Val720Met)
|
rs1555591459
|
|
NM_032043.3(BRIP1):c.2158G>T (p.Val720Leu)
|
rs1555591459
|
|
NM_032043.3(BRIP1):c.2158_2160del (p.Val720del)
|
rs878855146
|
|
NM_032043.3(BRIP1):c.215C>A (p.Ala72Glu)
|
rs2078910927
|
|
NM_032043.3(BRIP1):c.2165C>T (p.Thr722Ile)
|
rs1603304593
|
|
NM_032043.3(BRIP1):c.2170A>C (p.Ile724Leu)
|
rs2077032430
|
|
NM_032043.3(BRIP1):c.2170A>G (p.Ile724Val)
|
|
|
NM_032043.3(BRIP1):c.2171T>C (p.Ile724Thr)
|
rs1312043643
|
|
NM_032043.3(BRIP1):c.2172T>G (p.Ile724Met)
|
rs777860588
|
|
NM_032043.3(BRIP1):c.2173G>A (p.Val725Ile)
|
rs1236873736
|
|
NM_032043.3(BRIP1):c.2174T>A (p.Val725Glu)
|
rs2144698131
|
|
NM_032043.3(BRIP1):c.2178A>C (p.Glu726Asp)
|
rs1555591425
|
|
NM_032043.3(BRIP1):c.2180C>A (p.Pro727Gln)
|
rs876659309
|
|
NM_032043.3(BRIP1):c.2180C>T (p.Pro727Leu)
|
rs876659309
|
|
NM_032043.3(BRIP1):c.2182C>G (p.Gln728Glu)
|
rs1296238058
|
|
NM_032043.3(BRIP1):c.2183A>T (p.Gln728Leu)
|
rs2144697784
|
|
NM_032043.3(BRIP1):c.2184G>C (p.Gln728His)
|
rs2077031766
|
|
NM_032043.3(BRIP1):c.2185G>A (p.Gly729Arg)
|
rs1555591407
|
|
NM_032043.3(BRIP1):c.2186G>A (p.Gly729Glu)
|
rs1404094308
|
|
NM_032043.3(BRIP1):c.2191G>A (p.Glu731Lys)
|
rs1603304544
|
|
NM_032043.3(BRIP1):c.2194A>G (p.Lys732Glu)
|
|
|
NM_032043.3(BRIP1):c.2198C>T (p.Thr733Ile)
|
rs2077031435
|
|
NM_032043.3(BRIP1):c.2200A>C (p.Asn734His)
|
rs2144697244
|
|
NM_032043.3(BRIP1):c.2201A>G (p.Asn734Ser)
|
rs2144697198
|
|
NM_032043.3(BRIP1):c.2205T>G (p.Phe735Leu)
|
|
|
NM_032043.3(BRIP1):c.2206G>A (p.Asp736Asn)
|
rs2144697004
|
|
NM_032043.3(BRIP1):c.2208T>G (p.Asp736Glu)
|
rs2077031257
|
|
NM_032043.3(BRIP1):c.220G>C (p.Glu74Gln)
|
rs2145831329
|
|
NM_032043.3(BRIP1):c.2216T>C (p.Leu739Pro)
|
rs587780234
|
|
NM_032043.3(BRIP1):c.2216T>G (p.Leu739Arg)
|
|
|
NM_032043.3(BRIP1):c.2218C>G (p.Gln740Glu)
|
rs1555591361
|
|
NM_032043.3(BRIP1):c.2221G>A (p.Val741Met)
|
rs1308293137
|
|
NM_032043.3(BRIP1):c.2221G>C (p.Val741Leu)
|
rs1308293137
|
|
NM_032043.3(BRIP1):c.2222T>C (p.Val741Ala)
|
rs1555591357
|
|
NM_032043.3(BRIP1):c.2225A>C (p.Tyr742Ser)
|
rs1555591351
|
|
NM_032043.3(BRIP1):c.2227T>G (p.Tyr743Asp)
|
rs2144695971
|
|
NM_032043.3(BRIP1):c.2228A>C (p.Tyr743Ser)
|
rs750033391
|
|
NM_032043.3(BRIP1):c.2228A>G (p.Tyr743Cys)
|
|
|
NM_032043.3(BRIP1):c.222G>C (p.Glu74Asp)
|
|
|
NM_032043.3(BRIP1):c.2230G>C (p.Asp744His)
|
rs2144695830
|
|
NM_032043.3(BRIP1):c.2232C>G (p.Asp744Glu)
|
rs374362388
|
|
NM_032043.3(BRIP1):c.2234C>T (p.Ala745Val)
|
rs2144695654
|
|
NM_032043.3(BRIP1):c.223G>T (p.Gly75Cys)
|
rs1317680188
|
|
NM_032043.3(BRIP1):c.2248G>A (p.Gly750Arg)
|
|
|
NM_032043.3(BRIP1):c.2249G>A (p.Gly750Glu)
|
|
|
NM_032043.3(BRIP1):c.2249G>T (p.Gly750Val)
|
rs764061653
|
|
NM_032043.3(BRIP1):c.2251G>C (p.Glu751Gln)
|
rs760438320
|
|
NM_032043.3(BRIP1):c.2254A>C (p.Lys752Gln)
|
rs876659651
|
|
NM_032043.3(BRIP1):c.2255A>G (p.Lys752Arg)
|
rs876660016
|
|
NM_032043.3(BRIP1):c.2256A>G (p.Lys752=)
|
|
|
NM_032043.3(BRIP1):c.2257+3A>G
|
rs2144694655
|
|
NM_032043.3(BRIP1):c.2257G>C (p.Asp753His)
|
rs1603304458
|
|
NM_032043.3(BRIP1):c.2258-3A>C
|
rs786203561
|
|
NM_032043.3(BRIP1):c.2258-3A>G
|
rs786203561
|
|
NM_032043.3(BRIP1):c.2258-5T>G
|
rs1555590588
|
|
NM_032043.3(BRIP1):c.2258-7G>A
|
rs1060501777
|
|
NM_032043.3(BRIP1):c.2259T>A (p.Asp753Glu)
|
rs2077009355
|
|
NM_032043.3(BRIP1):c.2263G>A (p.Ala755Thr)
|
|
|
NM_032043.3(BRIP1):c.2264C>G (p.Ala755Gly)
|
rs1555590565
|
|
NM_032043.3(BRIP1):c.2264C>T (p.Ala755Val)
|
rs1555590565
|
|
NM_032043.3(BRIP1):c.226G>T (p.Val76Leu)
|
rs769573395
|
|
NM_032043.3(BRIP1):c.2272G>A (p.Val758Ile)
|
rs1192826909
|
|
NM_032043.3(BRIP1):c.2272G>T (p.Val758Leu)
|
rs1192826909
|
|
NM_032043.3(BRIP1):c.2276C>G (p.Ala759Gly)
|
rs2144679532
|
|
NM_032043.3(BRIP1):c.2282G>A (p.Cys761Tyr)
|
|
|
NM_032043.3(BRIP1):c.2282G>C (p.Cys761Ser)
|
rs1567779745
|
|
NM_032043.3(BRIP1):c.2284_2285delinsTA (p.Arg762Tyr)
|
rs1555590511
|
|
NM_032043.3(BRIP1):c.2285G>T (p.Arg762Leu)
|
rs200960251
|
|
NM_032043.3(BRIP1):c.2290A>G (p.Lys764Glu)
|
rs1603303860
|
|
NM_032043.3(BRIP1):c.2292A>G (p.Lys764=)
|
rs2144678763
|
|
NM_032043.3(BRIP1):c.2296A>G (p.Ser766Gly)
|
|
|
NM_032043.3(BRIP1):c.2297G>A (p.Ser766Asn)
|
rs2144678538
|
|
NM_032043.3(BRIP1):c.2301G>C (p.Glu767Asp)
|
rs369434185
|
|
NM_032043.3(BRIP1):c.2302G>A (p.Gly768Ser)
|
rs2077008054
|
|
NM_032043.3(BRIP1):c.2303G>T (p.Gly768Val)
|
rs1603303846
|
|
NM_032043.3(BRIP1):c.2303_2308del (p.Gly768_Leu769del)
|
|
|
NM_032043.3(BRIP1):c.2308G>A (p.Asp770Asn)
|
rs2077007860
|
|
NM_032043.3(BRIP1):c.2308G>T (p.Asp770Tyr)
|
rs2077007860
|
|
NM_032043.3(BRIP1):c.2309A>G (p.Asp770Gly)
|
rs1555590457
|
|
NM_032043.3(BRIP1):c.2311T>C (p.Phe771Leu)
|
rs2144677768
|
|
NM_032043.3(BRIP1):c.2313C>G (p.Phe771Leu)
|
|
|
NM_032043.3(BRIP1):c.2315C>T (p.Ser772Leu)
|
|
|
NM_032043.3(BRIP1):c.2317G>A (p.Asp773Asn)
|
rs146091205
|
|
NM_032043.3(BRIP1):c.2321A>G (p.Asp774Gly)
|
rs992780498
|
|
NM_032043.3(BRIP1):c.2321A>T (p.Asp774Val)
|
|
|
NM_032043.3(BRIP1):c.2322C>A (p.Asp774Glu)
|
rs1057520434
|
|
NM_032043.3(BRIP1):c.2325T>G (p.Asn775Lys)
|
rs375146450
|
|
NM_032043.3(BRIP1):c.2326G>A (p.Ala776Thr)
|
rs2077007192
|
|
NM_032043.3(BRIP1):c.2327C>A (p.Ala776Asp)
|
rs1555590421
|
|
NM_032043.3(BRIP1):c.2329C>G (p.Arg777Gly)
|
rs768555161
|
|
NM_032043.3(BRIP1):c.2329C>T (p.Arg777Cys)
|
rs768555161
|
|
NM_032043.3(BRIP1):c.232G>A (p.Glu78Lys)
|
rs2145830931
|
|
NM_032043.3(BRIP1):c.2330G>C (p.Arg777Pro)
|
rs747568830
|
|
NM_032043.3(BRIP1):c.2332G>A (p.Ala778Thr)
|
rs2144676807
|
|
NM_032043.3(BRIP1):c.2332G>T (p.Ala778Ser)
|
rs2144676807
|
|
NM_032043.3(BRIP1):c.2333C>T (p.Ala778Val)
|
rs2077006983
|
|
NM_032043.3(BRIP1):c.2335G>A (p.Val779Ile)
|
rs1603303802
|
|
NM_032043.3(BRIP1):c.2335G>C (p.Val779Leu)
|
rs1603303802
|
|
NM_032043.3(BRIP1):c.2335G>T (p.Val779Phe)
|
rs1603303802
|
|
NM_032043.3(BRIP1):c.2336T>A (p.Val779Asp)
|
rs1567779485
|
|
NM_032043.3(BRIP1):c.2338A>G (p.Ile780Val)
|
rs776131401
|
|
NM_032043.3(BRIP1):c.2339T>A (p.Ile780Lys)
|
rs1467232177
|
|
NM_032043.3(BRIP1):c.2339T>C (p.Ile780Thr)
|
rs1467232177
|
|
NM_032043.3(BRIP1):c.2339T>G (p.Ile780Arg)
|
rs1467232177
|
|
NM_032043.3(BRIP1):c.2345T>A (p.Ile782Lys)
|
|
|
NM_032043.3(BRIP1):c.2348G>A (p.Gly783Glu)
|
rs2077006387
|
|
NM_032043.3(BRIP1):c.2349A>T (p.Gly783=)
|
rs863224799
|
|
NM_032043.3(BRIP1):c.2350A>G (p.Ile784Val)
|
rs1603303771
|
|
NM_032043.3(BRIP1):c.2354C>T (p.Pro785Leu)
|
rs2144675861
|
|
NM_032043.3(BRIP1):c.2356T>C (p.Phe786Leu)
|
|
|
NM_032043.3(BRIP1):c.2360C>G (p.Pro787Arg)
|
rs1555590356
|
|
NM_032043.3(BRIP1):c.2364T>A (p.Asn788Lys)
|
rs587783045
|
|
NM_032043.3(BRIP1):c.2365G>T (p.Val789Leu)
|
rs876661097
|
|
NM_032043.3(BRIP1):c.2366T>C (p.Val789Ala)
|
rs1060501728
|
|
NM_032043.3(BRIP1):c.236A>C (p.Lys79Thr)
|
rs2145830866
|
|
NM_032043.3(BRIP1):c.2372A>G (p.Asp791Gly)
|
rs876658934
|
|
NM_032043.3(BRIP1):c.2372A>T (p.Asp791Val)
|
rs876658934
|
|
NM_032043.3(BRIP1):c.2373T>A (p.Asp791Glu)
|
rs876659615
|
|
NM_032043.3(BRIP1):c.2374C>A (p.Leu792Ile)
|
rs2144675104
|
|
NM_032043.3(BRIP1):c.2375T>A (p.Leu792Gln)
|
|
|
NM_032043.3(BRIP1):c.2379+17T>G
|
rs2144674490
|
|
NM_032043.3(BRIP1):c.2379+4G>A
|
|
|
NM_032043.3(BRIP1):c.2379+5G>C
|
rs1567779316
|
|
NM_032043.3(BRIP1):c.2380-10A>G
|
rs2061858108
|
|
NM_032043.3(BRIP1):c.2380-20A>G
|
rs977667900
|
|
NM_032043.3(BRIP1):c.2380-7T>G
|
rs2144384592
|
|
NM_032043.3(BRIP1):c.2380G>T (p.Val794Phe)
|
rs1261005517
|
|
NM_032043.3(BRIP1):c.2383G>A (p.Glu795Lys)
|
|
|
NM_032043.3(BRIP1):c.2384A>G (p.Glu795Gly)
|
|
|
NM_032043.3(BRIP1):c.2386C>G (p.Leu796Val)
|
|
|
NM_032043.3(BRIP1):c.2387T>C (p.Leu796Pro)
|
|
|
NM_032043.3(BRIP1):c.2398T>C (p.Tyr800His)
|
rs1305107535
|
|
NM_032043.3(BRIP1):c.2399A>G (p.Tyr800Cys)
|
rs2061856846
|
|
NM_032043.3(BRIP1):c.23A>G (p.Tyr8Cys)
|
|
|
NM_032043.3(BRIP1):c.2401A>G (p.Asn801Asp)
|
rs1408016407
|
|
NM_032043.3(BRIP1):c.2404G>A (p.Asp802Asn)
|
|
|
NM_032043.3(BRIP1):c.2405A>G (p.Asp802Gly)
|
rs876660273
|
|
NM_032043.3(BRIP1):c.2406C>A (p.Asp802Glu)
|
rs748981650
|
|
NM_032043.3(BRIP1):c.2407C>T (p.His803Tyr)
|
rs2061856155
|
|
NM_032043.3(BRIP1):c.2410C>T (p.His804Tyr)
|
|
|
NM_032043.3(BRIP1):c.2411A>G (p.His804Arg)
|
rs777277034
|
|
NM_032043.3(BRIP1):c.2416A>G (p.Lys806Glu)
|
rs747622456
|
|
NM_032043.3(BRIP1):c.2422A>G (p.Arg808Gly)
|
rs587780237
|
|
NM_032043.3(BRIP1):c.2425G>A (p.Gly809Ser)
|
rs1555580892
|
|
NM_032043.3(BRIP1):c.2426G>A (p.Gly809Asp)
|
|
|
NM_032043.3(BRIP1):c.2426G>T (p.Gly809Val)
|
rs1555580886
|
|
NM_032043.3(BRIP1):c.2429T>C (p.Leu810Pro)
|
rs2061855206
|
|
NM_032043.3(BRIP1):c.2429T>G (p.Leu810Arg)
|
|
|
NM_032043.3(BRIP1):c.2431C>G (p.Leu811Val)
|
rs2144381821
|
|
NM_032043.3(BRIP1):c.2434C>A (p.Pro812Thr)
|
rs779915262
|
|
NM_032043.3(BRIP1):c.2435C>A (p.Pro812His)
|
rs876659410
|
|
NM_032043.3(BRIP1):c.2435C>G (p.Pro812Arg)
|
rs876659410
|
|
NM_032043.3(BRIP1):c.2436T>A (p.Pro812=)
|
rs2061854737
|
|
NM_032043.3(BRIP1):c.2437G>C (p.Gly813Arg)
|
rs2144381512
|
|
NM_032043.3(BRIP1):c.243A>C (p.Glu81Asp)
|
|
|
NM_032043.3(BRIP1):c.2440C>A (p.Arg814Ser)
|
|
|
NM_032043.3(BRIP1):c.2440C>G (p.Arg814Gly)
|
rs201869624
|
|
NM_032043.3(BRIP1):c.2444A>G (p.Gln815Arg)
|
|
|
NM_032043.3(BRIP1):c.2446T>C (p.Trp816Arg)
|
|
|
NM_032043.3(BRIP1):c.2446T>G (p.Trp816Gly)
|
rs1338241931
|
|
NM_032043.3(BRIP1):c.2448G>T (p.Trp816Cys)
|
rs1064795352
|
|
NM_032043.3(BRIP1):c.2450A>G (p.Tyr817Cys)
|
rs1555580828
|
|
NM_032043.3(BRIP1):c.2452G>A (p.Glu818Lys)
|
rs1555580819
|
|
NM_032043.3(BRIP1):c.2452G>C (p.Glu818Gln)
|
rs1555580819
|
|
NM_032043.3(BRIP1):c.245T>A (p.Val82Glu)
|
rs876659594
|
|
NM_032043.3(BRIP1):c.245T>G (p.Val82Gly)
|
|
|
NM_032043.3(BRIP1):c.2462C>T (p.Ala821Val)
|
rs876658697
|
|
NM_032043.3(BRIP1):c.2465A>G (p.Tyr822Cys)
|
rs587781572
|
|
NM_032043.3(BRIP1):c.2468G>A (p.Arg823Lys)
|
rs45479297
|
|
NM_032043.3(BRIP1):c.2468G>T (p.Arg823Met)
|
rs45479297
|
|
NM_032043.3(BRIP1):c.2470G>T (p.Ala824Ser)
|
|
|
NM_032043.3(BRIP1):c.2478C>G (p.Asn826Lys)
|
rs774939280
|
|
NM_032043.3(BRIP1):c.2479C>A (p.Gln827Lys)
|
rs786203898
|
|
NM_032043.3(BRIP1):c.2479C>G (p.Gln827Glu)
|
rs786203898
|
|
NM_032043.3(BRIP1):c.2481G>C (p.Gln827His)
|
rs2061853111
|
|
NM_032043.3(BRIP1):c.2483C>G (p.Ala828Gly)
|
rs2061853042
|
|
NM_032043.3(BRIP1):c.2488G>A (p.Gly830Ser)
|
rs876659062
|
|
NM_032043.3(BRIP1):c.2491A>G (p.Arg831Gly)
|
rs2144378901
|
|
NM_032043.3(BRIP1):c.2492+3A>C
|
rs1555580758
|
|
NM_032043.3(BRIP1):c.2492+3A>T
|
|
|
NM_032043.3(BRIP1):c.2492+5G>C
|
rs763222019
|
|
NM_032043.3(BRIP1):c.2492G>A (p.Arg831Lys)
|
rs771382903
|
|
NM_032043.3(BRIP1):c.2493-17_2493-16del
|
|
|
NM_032043.3(BRIP1):c.2493-3T>G
|
rs2061479378
|
|
NM_032043.3(BRIP1):c.2494T>C (p.Cys832Arg)
|
rs768222842
|
|
NM_032043.3(BRIP1):c.2494T>G (p.Cys832Gly)
|
rs768222842
|
|
NM_032043.3(BRIP1):c.2495G>A (p.Cys832Tyr)
|
|
|
NM_032043.3(BRIP1):c.2495G>T (p.Cys832Phe)
|
|
|
NM_032043.3(BRIP1):c.2497A>G (p.Ile833Val)
|
rs199831248
|
|
NM_032043.3(BRIP1):c.2498T>C (p.Ile833Thr)
|
rs876660936
|
|
NM_032043.3(BRIP1):c.2500A>G (p.Arg834Gly)
|
|
|
NM_032043.3(BRIP1):c.2501G>A (p.Arg834Lys)
|
|
|
NM_032043.3(BRIP1):c.2504A>G (p.His835Arg)
|
|
|
NM_032043.3(BRIP1):c.2505C>G (p.His835Gln)
|
rs775547651
|
|
NM_032043.3(BRIP1):c.2507G>T (p.Arg836Ile)
|
rs1060501736
|
|
NM_032043.3(BRIP1):c.2508A>C (p.Arg836Ser)
|
rs2061478740
|
|
NM_032043.3(BRIP1):c.2510A>G (p.Asn837Ser)
|
rs1555574810
|
|
NM_032043.3(BRIP1):c.2512G>C (p.Asp838His)
|
|
|
NM_032043.3(BRIP1):c.2513A>T (p.Asp838Val)
|
rs1567737801
|
|
NM_032043.3(BRIP1):c.2515T>A (p.Trp839Arg)
|
rs1555574807
|
|
NM_032043.3(BRIP1):c.2515T>G (p.Trp839Gly)
|
rs1555574807
|
|
NM_032043.3(BRIP1):c.2519G>A (p.Gly840Glu)
|
|
|
NM_032043.3(BRIP1):c.2521G>A (p.Ala841Thr)
|
rs1555574790
|
|
NM_032043.3(BRIP1):c.2524C>G (p.Leu842Val)
|
rs786201802
|
|
NM_032043.3(BRIP1):c.2524C>T (p.Leu842Phe)
|
rs786201802
|
|
NM_032043.3(BRIP1):c.2525T>C (p.Leu842Pro)
|
rs1060501751
|
|
NM_032043.3(BRIP1):c.2525T>G (p.Leu842Arg)
|
rs1060501751
|
|
NM_032043.3(BRIP1):c.2528T>C (p.Ile843Thr)
|
rs996693020
|
|
NM_032043.3(BRIP1):c.2536G>C (p.Asp846His)
|
rs876659409
|
|
NM_032043.3(BRIP1):c.2537A>T (p.Asp846Val)
|
rs2144186438
|
|
NM_032043.3(BRIP1):c.2538T>G (p.Asp846Glu)
|
|
|
NM_032043.3(BRIP1):c.2539G>A (p.Asp847Asn)
|
rs876659013
|
|
NM_032043.3(BRIP1):c.253T>C (p.Ser85Pro)
|
rs2145830182
|
|
NM_032043.3(BRIP1):c.2540A>G (p.Asp847Gly)
|
|
|
NM_032043.3(BRIP1):c.2542C>A (p.Arg848Ser)
|
rs45572934
|
|
NM_032043.3(BRIP1):c.2542C>G (p.Arg848Gly)
|
rs45572934
|
|
NM_032043.3(BRIP1):c.2542C>T (p.Arg848Cys)
|
rs45572934
|
|
NM_032043.3(BRIP1):c.2545T>C (p.Phe849Leu)
|
rs786202317
|
|
NM_032043.3(BRIP1):c.2549G>A (p.Arg850Lys)
|
rs2061477480
|
|
NM_032043.3(BRIP1):c.2550G>T (p.Arg850Ser)
|
rs2144185990
|
|
NM_032043.3(BRIP1):c.2552A>G (p.Asn851Ser)
|
rs2061477443
|
|
NM_032043.3(BRIP1):c.2553T>G (p.Asn851Lys)
|
rs587781793
|
|
NM_032043.3(BRIP1):c.2556C>A (p.Asn852Lys)
|
|
|
NM_032043.3(BRIP1):c.2556C>G (p.Asn852Lys)
|
rs876658785
|
|
NM_032043.3(BRIP1):c.2558C>G (p.Pro853Arg)
|
rs1060501775
|
|
NM_032043.3(BRIP1):c.2558C>T (p.Pro853Leu)
|
rs1060501775
|
|
NM_032043.3(BRIP1):c.2561G>A (p.Ser854Asn)
|
rs2061477133
|
|
NM_032043.3(BRIP1):c.2561G>T (p.Ser854Ile)
|
rs2061477133
|
|
NM_032043.3(BRIP1):c.2562T>G (p.Ser854Arg)
|
rs1555574734
|
|
NM_032043.3(BRIP1):c.2563C>A (p.Arg855Ser)
|
rs146031731
|
|
NM_032043.3(BRIP1):c.2564G>T (p.Arg855Leu)
|
rs200894063
|
|
NM_032043.3(BRIP1):c.2566T>C (p.Tyr856His)
|
rs2061476921
|
|
NM_032043.3(BRIP1):c.256T>C (p.Cys86Arg)
|
rs1555617900
|
|
NM_032043.3(BRIP1):c.256TGT[2] (p.Cys88del)
|
rs587781388
|
|
NM_032043.3(BRIP1):c.2570T>C (p.Ile857Thr)
|
rs766432760
|
|
NM_032043.3(BRIP1):c.2574T>C (p.Ser858=)
|
rs1555574712
|
|
NM_032043.3(BRIP1):c.2575+2dup
|
rs1555574711
|
|
NM_032043.3(BRIP1):c.2575+6A>G
|
rs1555574710
|
|
NM_032043.3(BRIP1):c.2576-3T>C
|
rs2144119000
|
|
NM_032043.3(BRIP1):c.2578C>T (p.Leu860Phe)
|
rs1555573507
|
|
NM_032043.3(BRIP1):c.2581T>C (p.Ser861Pro)
|
rs1567732145
|
|
NM_032043.3(BRIP1):c.2584A>G (p.Lys862Glu)
|
rs1603277012
|
|
NM_032043.3(BRIP1):c.2586A>T (p.Lys862Asn)
|
rs745318756
|
|
NM_032043.3(BRIP1):c.2587T>C (p.Trp863Arg)
|
rs876660452
|
|
NM_032043.3(BRIP1):c.258_269del (p.Cys87_Cys90del)
|
rs730881648
|
|
NM_032043.3(BRIP1):c.2591T>C (p.Val864Ala)
|
rs1294102948
|
|
NM_032043.3(BRIP1):c.2594G>C (p.Arg865Pro)
|
rs781609846
|
|
NM_032043.3(BRIP1):c.2597A>T (p.Gln866Leu)
|
rs1603276987
|
|
NM_032043.3(BRIP1):c.2599C>A (p.Gln867Lys)
|
rs182028200
|
|
NM_032043.3(BRIP1):c.259T>A (p.Cys87Ser)
|
rs1555617897
|
|
NM_032043.3(BRIP1):c.259T>C (p.Cys87Arg)
|
rs1555617897
|
|
NM_032043.3(BRIP1):c.25A>G (p.Thr9Ala)
|
rs2078973246
|
|
NM_032043.3(BRIP1):c.2600A>C (p.Gln867Pro)
|
|
|
NM_032043.3(BRIP1):c.2603T>C (p.Ile868Thr)
|
rs2061361421
|
|
NM_032043.3(BRIP1):c.2605C>G (p.Gln869Glu)
|
rs1060501766
|
|
NM_032043.3(BRIP1):c.2606A>C (p.Gln869Pro)
|
|
|
NM_032043.3(BRIP1):c.2609A>C (p.His870Pro)
|
rs864622201
|
|
NM_032043.3(BRIP1):c.2609A>G (p.His870Arg)
|
|
|
NM_032043.3(BRIP1):c.260G>A (p.Cys87Tyr)
|
rs863224800
|
|
NM_032043.3(BRIP1):c.260G>C (p.Cys87Ser)
|
rs863224800
|
|
NM_032043.3(BRIP1):c.2610C>A (p.His870Gln)
|
|
|
NM_032043.3(BRIP1):c.2610C>G (p.His870Gln)
|
rs2144117805
|
|
NM_032043.3(BRIP1):c.2611C>T (p.His871Tyr)
|
rs786203288
|
|
NM_032043.3(BRIP1):c.2613T>A (p.His871Gln)
|
|
|
NM_032043.3(BRIP1):c.2614T>A (p.Ser872Thr)
|
rs2061360803
|
|
NM_032043.3(BRIP1):c.2615C>T (p.Ser872Leu)
|
rs587781964
|
|
NM_032043.3(BRIP1):c.2617A>T (p.Thr873Ser)
|
rs758444508
|
|
NM_032043.3(BRIP1):c.2624A>G (p.Glu875Gly)
|
|
|
NM_032043.3(BRIP1):c.2626A>G (p.Ser876Gly)
|
rs1555573469
|
|
NM_032043.3(BRIP1):c.2627G>A (p.Ser876Asn)
|
rs750961319
|
|
NM_032043.3(BRIP1):c.2628T>A (p.Ser876Arg)
|
|
|
NM_032043.3(BRIP1):c.2628T>G (p.Ser876Arg)
|
rs1032574757
|
|
NM_032043.3(BRIP1):c.2629G>A (p.Ala877Thr)
|
|
|
NM_032043.3(BRIP1):c.2629G>C (p.Ala877Pro)
|
rs1567731966
|
|
NM_032043.3(BRIP1):c.262T>G (p.Cys88Gly)
|
rs1555617890
|
|
NM_032043.3(BRIP1):c.2630C>T (p.Ala877Val)
|
rs1555573465
|
|
NM_032043.3(BRIP1):c.2635G>A (p.Glu879Lys)
|
rs1391013628
|
|
NM_032043.3(BRIP1):c.2636A>G (p.Glu879Gly)
|
rs1202665874
|
|
NM_032043.3(BRIP1):c.263G>A (p.Cys88Tyr)
|
|
|
NM_032043.3(BRIP1):c.2642T>C (p.Leu881Ser)
|
rs2061359874
|
|
NM_032043.3(BRIP1):c.2642T>G (p.Leu881Trp)
|
rs2061359874
|
|
NM_032043.3(BRIP1):c.2647G>A (p.Glu883Lys)
|
rs2061359691
|
|
NM_032043.3(BRIP1):c.2648A>G (p.Glu883Gly)
|
|
|
NM_032043.3(BRIP1):c.2656A>C (p.Lys886Gln)
|
|
|
NM_032043.3(BRIP1):c.265G>A (p.Ala89Thr)
|
rs1555617884
|
|
NM_032043.3(BRIP1):c.265G>T (p.Ala89Ser)
|
|
|
NM_032043.3(BRIP1):c.2661G>T (p.Lys887Asn)
|
|
|
NM_032043.3(BRIP1):c.2662C>G (p.His888Asp)
|
rs757668121
|
|
NM_032043.3(BRIP1):c.2663A>C (p.His888Pro)
|
rs2061359359
|
|
NM_032043.3(BRIP1):c.2666A>G (p.Gln889Arg)
|
rs2061359230
|
|
NM_032043.3(BRIP1):c.2668A>C (p.Lys890Gln)
|
|
|
NM_032043.3(BRIP1):c.2669A>G (p.Lys890Arg)
|
rs902432731
|
|
NM_032043.3(BRIP1):c.2671G>A (p.Val891Ile)
|
rs754224663
|
|
NM_032043.3(BRIP1):c.2672T>C (p.Val891Ala)
|
|
|
NM_032043.3(BRIP1):c.2674C>G (p.Leu892Val)
|
rs2144115542
|
|
NM_032043.3(BRIP1):c.2675T>A (p.Leu892His)
|
rs2061358811
|
|
NM_032043.3(BRIP1):c.2677A>C (p.Asn893His)
|
rs2144115463
|
|
NM_032043.3(BRIP1):c.2680G>A (p.Val894Ile)
|
rs1603276880
|
|
NM_032043.3(BRIP1):c.2684C>T (p.Ser895Phe)
|
|
|
NM_032043.3(BRIP1):c.2686A>C (p.Ile896Leu)
|
rs764406913
|
|
NM_032043.3(BRIP1):c.2693A>G (p.Asp898Gly)
|
|
|
NM_032043.3(BRIP1):c.2697A>C (p.Arg899Ser)
|
rs1603276849
|
|
NM_032043.3(BRIP1):c.2698A>C (p.Thr900Pro)
|
|
|
NM_032043.3(BRIP1):c.2699C>A (p.Thr900Asn)
|
rs1359809807
|
|
NM_032043.3(BRIP1):c.2699C>G (p.Thr900Ser)
|
rs1359809807
|
|
NM_032043.3(BRIP1):c.2699C>T (p.Thr900Ile)
|
|
|
NM_032043.3(BRIP1):c.2707C>A (p.Gln903Lys)
|
rs1603276837
|
|
NM_032043.3(BRIP1):c.2708A>C (p.Gln903Pro)
|
rs2061357542
|
|
NM_032043.3(BRIP1):c.2708A>G (p.Gln903Arg)
|
|
|
NM_032043.3(BRIP1):c.2710G>A (p.Asp904Asn)
|
rs1555573413
|
|
NM_032043.3(BRIP1):c.2712C>A (p.Asp904Glu)
|
rs1567731807
|
|
NM_032043.3(BRIP1):c.2714A>G (p.Asn905Ser)
|
rs1555573412
|
|
NM_032043.3(BRIP1):c.2718G>T (p.Glu906Asp)
|
rs1042327124
|
|
NM_032043.3(BRIP1):c.271C>T (p.His91Tyr)
|
rs2145829433
|
|
NM_032043.3(BRIP1):c.2720C>T (p.Ser907Phe)
|
rs2061357079
|
|
NM_032043.3(BRIP1):c.2725C>A (p.Leu909Ile)
|
|
|
NM_032043.3(BRIP1):c.2725C>G (p.Leu909Val)
|
rs587781853
|
|
NM_032043.3(BRIP1):c.2725C>T (p.Leu909Phe)
|
rs587781853
|
|
NM_032043.3(BRIP1):c.2726T>C (p.Leu909Pro)
|
rs770966270
|
|
NM_032043.3(BRIP1):c.2726T>G (p.Leu909Arg)
|
rs770966270
|
|
NM_032043.3(BRIP1):c.2728G>C (p.Glu910Gln)
|
rs1007808618
|
|
NM_032043.3(BRIP1):c.2729A>G (p.Glu910Gly)
|
rs1603276787
|
|
NM_032043.3(BRIP1):c.272A>C (p.His91Pro)
|
|
|
NM_032043.3(BRIP1):c.2731G>T (p.Val911Leu)
|
rs1555573392
|
|
NM_032043.3(BRIP1):c.2732T>G (p.Val911Gly)
|
rs2144113358
|
|
NM_032043.3(BRIP1):c.2735C>A (p.Thr912Asn)
|
rs571949350
|
|
NM_032043.3(BRIP1):c.2737T>G (p.Ser913Ala)
|
rs1555573382
|
|
NM_032043.3(BRIP1):c.273T>G (p.His91Gln)
|
rs2145829382
|
|
NM_032043.3(BRIP1):c.2741T>C (p.Leu914Ser)
|
rs886053215
|
|
NM_032043.3(BRIP1):c.2746T>A (p.Tyr916Asn)
|
|
|
NM_032043.3(BRIP1):c.2746T>C (p.Tyr916His)
|
rs2144112786
|
|
NM_032043.3(BRIP1):c.2749A>G (p.Ser917Gly)
|
rs1603276749
|
|
NM_032043.3(BRIP1):c.274T>C (p.Ser92Pro)
|
rs755930156
|
|
NM_032043.3(BRIP1):c.2752A>G (p.Thr918Ala)
|
rs1060501759
|
|
NM_032043.3(BRIP1):c.2753C>G (p.Thr918Ser)
|
|
|
NM_032043.3(BRIP1):c.2753C>T (p.Thr918Ile)
|
rs587781298
|
|
NM_032043.3(BRIP1):c.2759C>T (p.Pro920Leu)
|
|
|
NM_032043.3(BRIP1):c.275C>T (p.Ser92Leu)
|
|
|
NM_032043.3(BRIP1):c.2761T>A (p.Tyr921Asn)
|
rs2144112225
|
|
NM_032043.3(BRIP1):c.2764_2784del (p.Leu923_Leu929del)
|
rs2061355023
|
|
NM_032043.3(BRIP1):c.2768T>C (p.Leu923Pro)
|
rs2144112007
|
|
NM_032043.3(BRIP1):c.2770G>A (p.Glu924Lys)
|
rs1555573342
|
|
NM_032043.3(BRIP1):c.2771A>T (p.Glu924Val)
|
rs1567731533
|
|
NM_032043.3(BRIP1):c.2773G>A (p.Ala925Thr)
|
rs2061355245
|
|
NM_032043.3(BRIP1):c.2774C>G (p.Ala925Gly)
|
rs2061355212
|
|
NM_032043.3(BRIP1):c.2779A>G (p.Ser927Gly)
|
rs2061355061
|
|
NM_032043.3(BRIP1):c.2786T>C (p.Leu929Pro)
|
rs772087074
|
|
NM_032043.3(BRIP1):c.2788T>A (p.Ser930Thr)
|
|
|
NM_032043.3(BRIP1):c.2791C>T (p.Pro931Ser)
|
rs745940032
|
|
NM_032043.3(BRIP1):c.2792C>A (p.Pro931Gln)
|
rs932408573
|
|
NM_032043.3(BRIP1):c.2792C>T (p.Pro931Leu)
|
rs932408573
|
|
NM_032043.3(BRIP1):c.2801T>G (p.Phe934Cys)
|
rs778916092
|
|
NM_032043.3(BRIP1):c.2803G>A (p.Val935Met)
|
rs1219152456
|
|
NM_032043.3(BRIP1):c.2804T>C (p.Val935Ala)
|
rs4988356
|
|
NM_032043.3(BRIP1):c.2807A>G (p.Glu936Gly)
|
rs878855149
|
|
NM_032043.3(BRIP1):c.2807A>T (p.Glu936Val)
|
rs878855149
|
|
NM_032043.3(BRIP1):c.2809G>A (p.Asp937Asn)
|
rs2061354513
|
|
NM_032043.3(BRIP1):c.2809G>T (p.Asp937Tyr)
|
rs2061354513
|
|
NM_032043.3(BRIP1):c.2810A>G (p.Asp937Gly)
|
rs2061354479
|
|
NM_032043.3(BRIP1):c.2811T>G (p.Asp937Glu)
|
rs374335608
|
|
NM_032043.3(BRIP1):c.2812G>A (p.Glu938Lys)
|
rs199643061
|
|
NM_032043.3(BRIP1):c.2813A>G (p.Glu938Gly)
|
|
|
NM_032043.3(BRIP1):c.2814A>C (p.Glu938Asp)
|
rs1555573311
|
|
NM_032043.3(BRIP1):c.2815G>A (p.Ala939Thr)
|
rs2061354305
|
|
NM_032043.3(BRIP1):c.2820G>C (p.Lys940Asn)
|
|
|
NM_032043.3(BRIP1):c.2821A>C (p.Ile941Leu)
|
|
|
NM_032043.3(BRIP1):c.2821A>G (p.Ile941Val)
|
rs2144110175
|
|
NM_032043.3(BRIP1):c.2824T>A (p.Cys942Ser)
|
|
|
NM_032043.3(BRIP1):c.2824T>C (p.Cys942Arg)
|
rs1567731308
|
|
NM_032043.3(BRIP1):c.2825G>A (p.Cys942Tyr)
|
rs370330739
|
|
NM_032043.3(BRIP1):c.2827G>C (p.Val943Leu)
|
rs1401830781
|
|
NM_032043.3(BRIP1):c.2828T>C (p.Val943Ala)
|
rs786204143
|
|
NM_032043.3(BRIP1):c.2829C>A (p.Val943=)
|
rs767164240
|
|
NM_032043.3(BRIP1):c.2831A>C (p.Gln944Pro)
|
rs148232408
|
|
NM_032043.3(BRIP1):c.2831A>G (p.Gln944Arg)
|
rs148232408
|
|
NM_032043.3(BRIP1):c.2832G>C (p.Gln944His)
|
rs1603276606
|
|
NM_032043.3(BRIP1):c.2833G>A (p.Glu945Lys)
|
rs863224802
|
|
NM_032043.3(BRIP1):c.2836C>A (p.Leu946Ile)
|
rs1603276593
|
|
NM_032043.3(BRIP1):c.2836C>G (p.Leu946Val)
|
rs1603276593
|
|
NM_032043.3(BRIP1):c.2837T>A (p.Leu946Gln)
|
|
|
NM_032043.3(BRIP1):c.283T>G (p.Phe95Val)
|
|
|
NM_032043.3(BRIP1):c.2840A>G (p.Gln947Arg)
|
rs876659756
|
|
NM_032043.3(BRIP1):c.2844T>G (p.Cys948Trp)
|
rs1567731150
|
|
NM_032043.3(BRIP1):c.2848A>C (p.Lys950Gln)
|
|
|
NM_032043.3(BRIP1):c.2850A>C (p.Lys950Asn)
|
rs1603276576
|
|
NM_032043.3(BRIP1):c.2851A>G (p.Ile951Val)
|
rs730881626
|
|
NM_032043.3(BRIP1):c.2855T>G (p.Ile952Ser)
|
rs1060501735
|
|
NM_032043.3(BRIP1):c.2857A>G (p.Thr953Ala)
|
rs587780245
|
|
NM_032043.3(BRIP1):c.2858C>A (p.Thr953Asn)
|
|
|
NM_032043.3(BRIP1):c.2861A>C (p.Lys954Thr)
|
rs2144108739
|
|
NM_032043.3(BRIP1):c.2861A>G (p.Lys954Arg)
|
rs2144108739
|
|
NM_032043.3(BRIP1):c.2863A>G (p.Asn955Asp)
|
rs587782244
|
|
NM_032043.3(BRIP1):c.2864A>G (p.Asn955Ser)
|
rs2144108643
|
|
NM_032043.3(BRIP1):c.2869C>G (p.Pro957Ala)
|
rs2061352600
|
|
NM_032043.3(BRIP1):c.286A>G (p.Thr96Ala)
|
|
|
NM_032043.3(BRIP1):c.2870C>T (p.Pro957Leu)
|
rs786203077
|
|
NM_032043.3(BRIP1):c.2873T>C (p.Leu958Pro)
|
rs145859791
|
|
NM_032043.3(BRIP1):c.2876C>G (p.Pro959Arg)
|
rs1567731036
|
|
NM_032043.3(BRIP1):c.2878A>C (p.Ser960Arg)
|
rs1603276532
|
|
NM_032043.3(BRIP1):c.2878A>G (p.Ser960Gly)
|
rs1603276532
|
|
NM_032043.3(BRIP1):c.287C>T (p.Thr96Ile)
|
rs2078908690
|
|
NM_032043.3(BRIP1):c.2882G>A (p.Ser961Asn)
|
rs1060501732
|
|
NM_032043.3(BRIP1):c.2884A>G (p.Ile962Val)
|
rs1603276520
|
|
NM_032043.3(BRIP1):c.2891C>T (p.Ser964Phe)
|
|
|
NM_032043.3(BRIP1):c.2893A>G (p.Arg965Gly)
|
|
|
NM_032043.3(BRIP1):c.2894G>A (p.Arg965Lys)
|
rs2061351932
|
|
NM_032043.3(BRIP1):c.2896A>G (p.Lys966Glu)
|
|
|
NM_032043.3(BRIP1):c.2897A>G (p.Lys966Arg)
|
|
|
NM_032043.3(BRIP1):c.2899G>A (p.Glu967Lys)
|
rs1305928655
|
|
NM_032043.3(BRIP1):c.289A>T (p.Asn97Tyr)
|
rs2078908581
|
|
NM_032043.3(BRIP1):c.28A>G (p.Ile10Val)
|
rs945685514
|
|
NM_032043.3(BRIP1):c.2905+117_2905+118insTA
|
rs2144105643
|
|
NM_032043.3(BRIP1):c.2905+2T>A
|
|
|
NM_032043.3(BRIP1):c.2905+3A>T
|
|
|
NM_032043.3(BRIP1):c.2905+4T>A
|
rs373835270
|
|
NM_032043.3(BRIP1):c.2905+5G>A
|
|
|
NM_032043.3(BRIP1):c.2906-2A>C
|
|
|
NM_032043.3(BRIP1):c.2906-3T>A
|
rs370819200
|
|
NM_032043.3(BRIP1):c.2906-3T>G
|
rs370819200
|
|
NM_032043.3(BRIP1):c.2906A>G (p.Asn969Ser)
|
rs1603275723
|
|
NM_032043.3(BRIP1):c.2908G>A (p.Asp970Asn)
|
rs1555572994
|
|
NM_032043.3(BRIP1):c.2909A>C (p.Asp970Ala)
|
|
|
NM_032043.3(BRIP1):c.2914G>C (p.Val972Leu)
|
|
|
NM_032043.3(BRIP1):c.2915T>G (p.Val972Gly)
|
|
|
NM_032043.3(BRIP1):c.2917T>A (p.Phe973Ile)
|
rs1060501727
|
|
NM_032043.3(BRIP1):c.2917T>G (p.Phe973Val)
|
rs1060501727
|
|
NM_032043.3(BRIP1):c.291C>A (p.Asn97Lys)
|
rs766561078
|
|
NM_032043.3(BRIP1):c.2923G>C (p.Glu975Gln)
|
rs1603275707
|
|
NM_032043.3(BRIP1):c.2929G>A (p.Ala977Thr)
|
rs864622628
|
|
NM_032043.3(BRIP1):c.2929G>C (p.Ala977Pro)
|
rs864622628
|
|
NM_032043.3(BRIP1):c.2929G>T (p.Ala977Ser)
|
rs864622628
|
|
NM_032043.3(BRIP1):c.2932G>A (p.Gly978Arg)
|
|
|
NM_032043.3(BRIP1):c.2932G>C (p.Gly978Arg)
|
rs2061326304
|
|
NM_032043.3(BRIP1):c.2938G>C (p.Ala980Pro)
|
rs2061325944
|
|
NM_032043.3(BRIP1):c.2939C>A (p.Ala980Glu)
|
|
|
NM_032043.3(BRIP1):c.2944A>G (p.Lys982Glu)
|
rs1316369686
|
|
NM_032043.3(BRIP1):c.2946A>T (p.Lys982Asn)
|
rs2144093397
|
|
NM_032043.3(BRIP1):c.2947A>G (p.Ile983Val)
|
rs755337038
|
|
NM_032043.3(BRIP1):c.2947A>T (p.Ile983Phe)
|
rs755337038
|
|
NM_032043.3(BRIP1):c.2948T>C (p.Ile983Thr)
|
rs587781417
|
|
NM_032043.3(BRIP1):c.2949T>G (p.Ile983Met)
|
rs746715917
|
|
NM_032043.3(BRIP1):c.294T>G (p.Asn98Lys)
|
rs1555617859
|
|
NM_032043.3(BRIP1):c.2950G>A (p.Val984Met)
|
rs2061325330
|
|
NM_032043.3(BRIP1):c.2950G>T (p.Val984Leu)
|
rs2061325330
|
|
NM_032043.3(BRIP1):c.2953A>G (p.Ile985Val)
|
|
|
NM_032043.3(BRIP1):c.2954T>C (p.Ile985Thr)
|
|
|
NM_032043.3(BRIP1):c.295G>A (p.Asp99Asn)
|
rs1603366321
|
|
NM_032043.3(BRIP1):c.2961A>C (p.Arg987Ser)
|
rs1567729555
|
|
NM_032043.3(BRIP1):c.2962T>C (p.Ser988Pro)
|
rs2061324880
|
|
NM_032043.3(BRIP1):c.2963C>T (p.Ser988Phe)
|
rs758032378
|
|
NM_032043.3(BRIP1):c.2966C>G (p.Thr989Arg)
|
|
|
NM_032043.3(BRIP1):c.2969G>A (p.Ser990Asn)
|
rs2144092757
|
|
NM_032043.3(BRIP1):c.2970C>G (p.Ser990Arg)
|
|
|
NM_032043.3(BRIP1):c.2972C>G (p.Pro991Arg)
|
|
|
NM_032043.3(BRIP1):c.2972C>T (p.Pro991Leu)
|
rs2061324725
|
|
NM_032043.3(BRIP1):c.2974A>T (p.Thr992Ser)
|
rs1276811545
|
|
NM_032043.3(BRIP1):c.2975C>A (p.Thr992Asn)
|
rs2061324557
|
|
NM_032043.3(BRIP1):c.2975C>T (p.Thr992Ile)
|
rs2061324557
|
|
NM_032043.3(BRIP1):c.2978T>A (p.Phe993Tyr)
|
|
|
NM_032043.3(BRIP1):c.297C>G (p.Asp99Glu)
|
rs201617644
|
|
NM_032043.3(BRIP1):c.2983A>G (p.Lys995Glu)
|
rs1555572929
|
|
NM_032043.3(BRIP1):c.2986C>G (p.Gln996Glu)
|
rs1567729513
|
|
NM_032043.3(BRIP1):c.2987A>G (p.Gln996Arg)
|
rs1603275641
|
|
NM_032043.3(BRIP1):c.298A>T (p.Met100Leu)
|
|
|
NM_032043.3(BRIP1):c.2990C>T (p.Thr997Ile)
|
rs749978235
|
|
NM_032043.3(BRIP1):c.2992A>G (p.Lys998Glu)
|
rs1603275633
|
|
NM_032043.3(BRIP1):c.2994G>C (p.Lys998Asn)
|
rs757225144
|
|
NM_032043.3(BRIP1):c.2996G>T (p.Arg999Ile)
|
rs1603275620
|
|
NM_032043.3(BRIP1):c.299T>C (p.Met100Thr)
|
rs587782427
|
|
NM_032043.3(BRIP1):c.3002G>A (p.Ser1001Asn)
|
rs1603275610
|
|
NM_032043.3(BRIP1):c.3002G>C (p.Ser1001Thr)
|
|
|
NM_032043.3(BRIP1):c.3017A>G (p.Asn1006Ser)
|
|
|
NM_032043.3(BRIP1):c.301A>G (p.Asn101Asp)
|
rs2145828545
|
|
NM_032043.3(BRIP1):c.3020C>A (p.Ser1007Tyr)
|
rs886053214
|
|
NM_032043.3(BRIP1):c.3022T>A (p.Leu1008Met)
|
rs1165704345
|
|
NM_032043.3(BRIP1):c.3023T>C (p.Leu1008Ser)
|
rs2061323067
|
|
NM_032043.3(BRIP1):c.3025G>A (p.Gly1009Arg)
|
rs587781328
|
|
NM_032043.3(BRIP1):c.3025G>C (p.Gly1009Arg)
|
rs587781328
|
|
NM_032043.3(BRIP1):c.3026G>A (p.Gly1009Glu)
|
rs1555572908
|
|
NM_032043.3(BRIP1):c.3026G>T (p.Gly1009Val)
|
rs1555572908
|
|
NM_032043.3(BRIP1):c.3031T>C (p.Tyr1011His)
|
rs1567729362
|
|
NM_032043.3(BRIP1):c.303C>A (p.Asn101Lys)
|
|
|
NM_032043.3(BRIP1):c.3041G>A (p.Gly1014Asp)
|
rs876659757
|
|
NM_032043.3(BRIP1):c.3041G>C (p.Gly1014Ala)
|
rs876659757
|
|
NM_032043.3(BRIP1):c.3044A>G (p.Lys1015Arg)
|
rs1006002613
|
|
NM_032043.3(BRIP1):c.3047T>G (p.Ile1016Arg)
|
rs2061322186
|
|
NM_032043.3(BRIP1):c.3048A>G (p.Ile1016Met)
|
|
|
NM_032043.3(BRIP1):c.3053A>G (p.Lys1018Arg)
|
rs2061321875
|
|
NM_032043.3(BRIP1):c.3055G>A (p.Ala1019Thr)
|
rs1603275556
|
|
NM_032043.3(BRIP1):c.3056C>T (p.Ala1019Val)
|
rs1555572884
|
|
NM_032043.3(BRIP1):c.305A>G (p.Gln102Arg)
|
rs1484234707
|
|
NM_032043.3(BRIP1):c.305A>T (p.Gln102Leu)
|
|
|
NM_032043.3(BRIP1):c.3061C>T (p.Pro1021Ser)
|
rs1555572880
|
|
NM_032043.3(BRIP1):c.3064G>C (p.Glu1022Gln)
|
rs587782808
|
|
NM_032043.3(BRIP1):c.3065A>T (p.Glu1022Val)
|
rs2144089594
|
|
NM_032043.3(BRIP1):c.3068T>C (p.Leu1023Pro)
|
rs747345595
|
|
NM_032043.3(BRIP1):c.3070G>C (p.Gly1024Arg)
|
rs147119272
|
|
NM_032043.3(BRIP1):c.3076T>C (p.Ser1026Pro)
|
rs756712872
|
|
NM_032043.3(BRIP1):c.307G>A (p.Gly103Arg)
|
rs777068696
|
|
NM_032043.3(BRIP1):c.3080A>C (p.Glu1027Ala)
|
rs863224804
|
|
NM_032043.3(BRIP1):c.3082A>G (p.Asn1028Asp)
|
|
|
NM_032043.3(BRIP1):c.3083A>C (p.Asn1028Thr)
|
rs1060501762
|
|
NM_032043.3(BRIP1):c.3083A>G (p.Asn1028Ser)
|
rs1060501762
|
|
NM_032043.3(BRIP1):c.3084T>G (p.Asn1028Lys)
|
rs1424179519
|
|
NM_032043.3(BRIP1):c.3086G>A (p.Ser1029Asn)
|
|
|
NM_032043.3(BRIP1):c.3088_3096dup (p.Ala1030_Ser1032dup)
|
rs1187782159
|
|
NM_032043.3(BRIP1):c.3089C>T (p.Ala1030Val)
|
rs767255426
|
|
NM_032043.3(BRIP1):c.3095G>A (p.Ser1032Asn)
|
|
|
NM_032043.3(BRIP1):c.3097C>T (p.Pro1033Ser)
|
rs876659119
|
|
NM_032043.3(BRIP1):c.3100C>A (p.Pro1034Thr)
|
rs765416041
|
|
NM_032043.3(BRIP1):c.3104G>C (p.Arg1035Pro)
|
rs367816363
|
|
NM_032043.3(BRIP1):c.310A>G (p.Thr104Ala)
|
rs2145828204
|
|
NM_032043.3(BRIP1):c.3112A>G (p.Thr1038Ala)
|
rs2061319595
|
|
NM_032043.3(BRIP1):c.3113C>G (p.Thr1038Arg)
|
|
|
NM_032043.3(BRIP1):c.3113C>T (p.Thr1038Ile)
|
rs2061319540
|
|
NM_032043.3(BRIP1):c.3116A>G (p.Glu1039Gly)
|
|
|
NM_032043.3(BRIP1):c.3118A>C (p.Lys1040Gln)
|
rs876659428
|
|
NM_032043.3(BRIP1):c.3118A>G (p.Lys1040Glu)
|
rs876659428
|
|
NM_032043.3(BRIP1):c.3121A>G (p.Met1041Val)
|
rs1555572831
|
|
NM_032043.3(BRIP1):c.3124G>A (p.Glu1042Lys)
|
|
|
NM_032043.3(BRIP1):c.3125A>G (p.Glu1042Gly)
|
rs1555572828
|
|
NM_032043.3(BRIP1):c.3128G>A (p.Ser1043Asn)
|
rs1555572825
|
|
NM_032043.3(BRIP1):c.3134C>G (p.Thr1045Ser)
|
|
|
NM_032043.3(BRIP1):c.3136G>A (p.Val1046Ile)
|
rs1555572824
|
|
NM_032043.3(BRIP1):c.3136G>C (p.Val1046Leu)
|
rs1555572824
|
|
NM_032043.3(BRIP1):c.3143C>T (p.Pro1048Leu)
|
rs896510433
|
|
NM_032043.3(BRIP1):c.3148A>C (p.Thr1050Pro)
|
rs1567728933
|
|
NM_032043.3(BRIP1):c.3148A>G (p.Thr1050Ala)
|
rs1567728933
|
|
NM_032043.3(BRIP1):c.3149C>G (p.Thr1050Ser)
|
|
|
NM_032043.3(BRIP1):c.3155A>G (p.Lys1052Arg)
|
|
|
NM_032043.3(BRIP1):c.3157T>C (p.Cys1053Arg)
|
rs2061318138
|
|
NM_032043.3(BRIP1):c.3163T>A (p.Ser1055Thr)
|
rs2144086036
|
|
NM_032043.3(BRIP1):c.3163T>C (p.Ser1055Pro)
|
|
|
NM_032043.3(BRIP1):c.3164C>A (p.Ser1055Tyr)
|
|
|
NM_032043.3(BRIP1):c.3169A>G (p.Asn1057Asp)
|
rs2144085839
|
|
NM_032043.3(BRIP1):c.316C>A (p.Arg106Ser)
|
rs587780247
|
|
NM_032043.3(BRIP1):c.3171T>G (p.Asn1057Lys)
|
rs2061317850
|
|
NM_032043.3(BRIP1):c.3172C>G (p.Leu1058Val)
|
rs2061317781
|
|
NM_032043.3(BRIP1):c.3173T>G (p.Leu1058Arg)
|
rs2144085714
|
|
NM_032043.3(BRIP1):c.3176C>G (p.Thr1059Arg)
|
rs1400975728
|
|
NM_032043.3(BRIP1):c.3181A>C (p.Asn1061His)
|
rs778430337
|
|
NM_032043.3(BRIP1):c.3181A>G (p.Asn1061Asp)
|
rs778430337
|
|
NM_032043.3(BRIP1):c.3185C>T (p.Thr1062Ile)
|
rs770517912
|
|
NM_032043.3(BRIP1):c.3192T>G (p.Phe1064Leu)
|
rs2144084979
|
|
NM_032043.3(BRIP1):c.3196T>A (p.Ser1066Thr)
|
rs1199327421
|
|
NM_032043.3(BRIP1):c.3196T>C (p.Ser1066Pro)
|
rs1199327421
|
|
NM_032043.3(BRIP1):c.3199T>C (p.Cys1067Arg)
|
rs878855153
|
|
NM_032043.3(BRIP1):c.319C>T (p.His107Tyr)
|
rs2078907400
|
|
NM_032043.3(BRIP1):c.3200G>T (p.Cys1067Phe)
|
rs2144084686
|
|
NM_032043.3(BRIP1):c.3203C>G (p.Pro1068Arg)
|
|
|
NM_032043.3(BRIP1):c.3203C>T (p.Pro1068Leu)
|
rs2061316462
|
|
NM_032043.3(BRIP1):c.3205C>G (p.Gln1069Glu)
|
rs2061316417
|
|
NM_032043.3(BRIP1):c.320A>C (p.His107Pro)
|
rs876659809
|
|
NM_032043.3(BRIP1):c.3214A>G (p.Thr1072Ala)
|
rs756074244
|
|
NM_032043.3(BRIP1):c.3215C>A (p.Thr1072Asn)
|
rs786204068
|
|
NM_032043.3(BRIP1):c.3221T>C (p.Ile1074Thr)
|
rs1219988835
|
|
NM_032043.3(BRIP1):c.3223T>A (p.Ser1075Thr)
|
rs368867532
|
|
NM_032043.3(BRIP1):c.3227C>T (p.Ser1076Leu)
|
rs864622113
|
|
NM_032043.3(BRIP1):c.3233A>C (p.Lys1078Thr)
|
rs1603275371
|
|
NM_032043.3(BRIP1):c.3234G>T (p.Lys1078Asn)
|
rs570238270
|
|
NM_032043.3(BRIP1):c.3238G>C (p.Asp1080His)
|
rs786204230
|
|
NM_032043.3(BRIP1):c.3238G>T (p.Asp1080Tyr)
|
rs786204230
|
|
NM_032043.3(BRIP1):c.3241G>A (p.Ala1081Thr)
|
rs1567728640
|
|
NM_032043.3(BRIP1):c.3242C>T (p.Ala1081Val)
|
rs1555572749
|
|
NM_032043.3(BRIP1):c.3245C>A (p.Thr1082Asn)
|
rs1603275338
|
|
NM_032043.3(BRIP1):c.3245C>G (p.Thr1082Ser)
|
rs1603275338
|
|
NM_032043.3(BRIP1):c.324C>G (p.Phe108Leu)
|
|
|
NM_032043.3(BRIP1):c.3251C>G (p.Thr1084Ser)
|
rs876660768
|
|
NM_032043.3(BRIP1):c.3253_3254delinsGT (p.Arg1085Val)
|
rs2061314506
|
|
NM_032043.3(BRIP1):c.3254G>C (p.Arg1085Thr)
|
rs1567728589
|
|
NM_032043.3(BRIP1):c.3256A>G (p.Lys1086Glu)
|
|
|
NM_032043.3(BRIP1):c.325A>G (p.Asn109Asp)
|
rs2078907245
|
|
NM_032043.3(BRIP1):c.3261T>G (p.Asn1087Lys)
|
rs1567728557
|
|
NM_032043.3(BRIP1):c.3263A>G (p.His1088Arg)
|
rs2061314121
|
|
NM_032043.3(BRIP1):c.3265T>G (p.Ser1089Ala)
|
rs764205156
|
|
NM_032043.3(BRIP1):c.3266C>G (p.Ser1089Cys)
|
rs761278503
|
|
NM_032043.3(BRIP1):c.3266C>T (p.Ser1089Phe)
|
rs761278503
|
|
NM_032043.3(BRIP1):c.3271C>T (p.His1091Tyr)
|
rs1555572732
|
|
NM_032043.3(BRIP1):c.3274C>A (p.Pro1092Thr)
|
rs768065626
|
|
NM_032043.3(BRIP1):c.3275C>A (p.Pro1092Gln)
|
rs587780830
|
|
NM_032043.3(BRIP1):c.3275C>G (p.Pro1092Arg)
|
rs587780830
|
|
NM_032043.3(BRIP1):c.3277C>G (p.Leu1093Val)
|
rs876660638
|
|
NM_032043.3(BRIP1):c.3277C>T (p.Leu1093Phe)
|
rs876660638
|
|
NM_032043.3(BRIP1):c.3283T>C (p.Ser1095Pro)
|
rs2061313248
|
|
NM_032043.3(BRIP1):c.3284C>T (p.Ser1095Phe)
|
rs1479296707
|
|
NM_032043.3(BRIP1):c.3287AAG[3] (p.Glu1097dup)
|
rs1603275271
|
|
NM_032043.3(BRIP1):c.328T>C (p.Tyr110His)
|
rs1555617821
|
|
NM_032043.3(BRIP1):c.3290A>G (p.Glu1097Gly)
|
rs876658746
|
|
NM_032043.3(BRIP1):c.3292G>T (p.Ala1098Ser)
|
rs1034545913
|
|
NM_032043.3(BRIP1):c.3293C>A (p.Ala1098Asp)
|
rs1361161166
|
|
NM_032043.3(BRIP1):c.3293C>T (p.Ala1098Val)
|
|
|
NM_032043.3(BRIP1):c.3298G>C (p.Asp1100His)
|
rs587781923
|
|
NM_032043.3(BRIP1):c.3298G>T (p.Asp1100Tyr)
|
rs587781923
|
|
NM_032043.3(BRIP1):c.3299A>T (p.Asp1100Val)
|
rs864622072
|
|
NM_032043.3(BRIP1):c.3301C>T (p.Pro1101Ser)
|
|
|
NM_032043.3(BRIP1):c.3302C>T (p.Pro1101Leu)
|
rs2061312470
|
|
NM_032043.3(BRIP1):c.3305A>G (p.Asp1102Gly)
|
rs748140041
|
|
NM_032043.3(BRIP1):c.3307A>G (p.Ile1103Val)
|
rs1555572700
|
|
NM_032043.3(BRIP1):c.3311A>T (p.Glu1104Val)
|
rs1567728360
|
|
NM_032043.3(BRIP1):c.3312A>T (p.Glu1104Asp)
|
rs1555572697
|
|
NM_032043.3(BRIP1):c.3315G>T (p.Leu1105Phe)
|
rs1603275236
|
|
NM_032043.3(BRIP1):c.3320T>C (p.Leu1107Pro)
|
|
|
NM_032043.3(BRIP1):c.3322G>A (p.Val1108Ile)
|
rs1275343223
|
|
NM_032043.3(BRIP1):c.3323T>G (p.Val1108Gly)
|
|
|
NM_032043.3(BRIP1):c.3328G>A (p.Glu1110Lys)
|
rs1060501774
|
|
NM_032043.3(BRIP1):c.3329A>G (p.Glu1110Gly)
|
rs1060501742
|
|
NM_032043.3(BRIP1):c.332C>T (p.Pro111Leu)
|
rs201790351
|
|
NM_032043.3(BRIP1):c.3331G>A (p.Glu1111Lys)
|
rs587780248
|
|
NM_032043.3(BRIP1):c.3332A>T (p.Glu1111Val)
|
rs2061311057
|
|
NM_032043.3(BRIP1):c.3334G>A (p.Asp1112Asn)
|
rs968860042
|
|
NM_032043.3(BRIP1):c.3336T>A (p.Asp1112Glu)
|
rs369843642
|
|
NM_032043.3(BRIP1):c.3337A>C (p.Lys1113Gln)
|
|
|
NM_032043.3(BRIP1):c.3337A>G (p.Lys1113Glu)
|
rs2061310712
|
|
NM_032043.3(BRIP1):c.3340C>G (p.Gln1114Glu)
|
|
|
NM_032043.3(BRIP1):c.3341A>C (p.Gln1114Pro)
|
|
|
NM_032043.3(BRIP1):c.3342G>C (p.Gln1114His)
|
rs2144079516
|
|
NM_032043.3(BRIP1):c.3343T>A (p.Ser1115Thr)
|
|
|
NM_032043.3(BRIP1):c.3343T>C (p.Ser1115Pro)
|
rs1567728281
|
|
NM_032043.3(BRIP1):c.3344C>A (p.Ser1115Tyr)
|
rs1419933310
|
|
NM_032043.3(BRIP1):c.3344C>G (p.Ser1115Cys)
|
rs1419933310
|
|
NM_032043.3(BRIP1):c.3344C>T (p.Ser1115Phe)
|
rs1419933310
|
|
NM_032043.3(BRIP1):c.3346A>G (p.Thr1116Ala)
|
|
|
NM_032043.3(BRIP1):c.3350C>T (p.Ser1117Leu)
|
rs1555572672
|
|
NM_032043.3(BRIP1):c.3352A>G (p.Asn1118Asp)
|
rs2061310251
|
|
NM_032043.3(BRIP1):c.3353A>G (p.Asn1118Ser)
|
rs1060501773
|
|
NM_032043.3(BRIP1):c.3356G>C (p.Arg1119Thr)
|
|
|
NM_032043.3(BRIP1):c.3358G>A (p.Asp1120Asn)
|
rs1555572663
|
|
NM_032043.3(BRIP1):c.3358G>C (p.Asp1120His)
|
|
|
NM_032043.3(BRIP1):c.335G>A (p.Ser112Asn)
|
rs1555617813
|
|
NM_032043.3(BRIP1):c.3364G>C (p.Glu1122Gln)
|
|
|
NM_032043.3(BRIP1):c.3365A>G (p.Glu1122Gly)
|
rs2144078743
|
|
NM_032043.3(BRIP1):c.3367A>G (p.Thr1123Ala)
|
rs754056526
|
|
NM_032043.3(BRIP1):c.3368C>G (p.Thr1123Arg)
|
|
|
NM_032043.3(BRIP1):c.3371A>G (p.Glu1124Gly)
|
rs1064793894
|
|
NM_032043.3(BRIP1):c.3374_3376del (p.Ala1125del)
|
rs745344948
|
|
NM_032043.3(BRIP1):c.3378A>T (p.Glu1126Asp)
|
rs145855459
|
|
NM_032043.3(BRIP1):c.3379G>C (p.Asp1127His)
|
rs2144078261
|
|
NM_032043.3(BRIP1):c.337A>C (p.Thr113Pro)
|
rs1555617812
|
|
NM_032043.3(BRIP1):c.3382G>A (p.Glu1128Lys)
|
rs45552539
|
|
NM_032043.3(BRIP1):c.3382G>C (p.Glu1128Gln)
|
rs45552539
|
|
NM_032043.3(BRIP1):c.3388A>T (p.Ile1130Phe)
|
rs786202549
|
|
NM_032043.3(BRIP1):c.3389T>C (p.Ile1130Thr)
|
rs1057522432
|
|
NM_032043.3(BRIP1):c.3390C>G (p.Ile1130Met)
|
rs2061308845
|
|
NM_032043.3(BRIP1):c.3392A>G (p.Tyr1131Cys)
|
rs1567728145
|
|
NM_032043.3(BRIP1):c.3397A>T (p.Thr1133Ser)
|
|
|
NM_032043.3(BRIP1):c.3398C>T (p.Thr1133Ile)
|
rs1555572645
|
|
NM_032043.3(BRIP1):c.3401del (p.Pro1134fs)
|
rs756853672
|
|
NM_032043.3(BRIP1):c.3404A>G (p.Glu1135Gly)
|
rs1235908208
|
|
NM_032043.3(BRIP1):c.3404_3405insCAG (p.Glu1135delinsAspArg)
|
rs1603275121
|
|
NM_032043.3(BRIP1):c.3406C>T (p.Leu1136Phe)
|
rs1555572626
|
|
NM_032043.3(BRIP1):c.3407T>G (p.Leu1136Arg)
|
rs2061308258
|
|
NM_032043.3(BRIP1):c.3409T>C (p.Tyr1137His)
|
rs2061308195
|
|
NM_032043.3(BRIP1):c.340C>T (p.Pro114Ser)
|
rs2145827137
|
|
NM_032043.3(BRIP1):c.3410_3411delinsGC (p.Tyr1137Cys)
|
|
|
NM_032043.3(BRIP1):c.3411_3412delinsCC (p.Asp1138His)
|
rs1555572620
|
|
NM_032043.3(BRIP1):c.3411_3412delinsCT (p.Asp1138Tyr)
|
rs1555572620
|
|
NM_032043.3(BRIP1):c.3411_3420del (p.Leu1136_Tyr1137insTer)
|
rs876660100
|
|
NM_032043.3(BRIP1):c.3412G>A (p.Asp1138Asn)
|
rs587780249
|
|
NM_032043.3(BRIP1):c.3413A>G (p.Asp1138Gly)
|
rs1057518847
|
|
NM_032043.3(BRIP1):c.3415C>T (p.Pro1139Ser)
|
rs1186451404
|
|
NM_032043.3(BRIP1):c.3416C>T (p.Pro1139Leu)
|
rs1555572613
|
|
NM_032043.3(BRIP1):c.341C>A (p.Pro114Gln)
|
rs876658965
|
|
NM_032043.3(BRIP1):c.341C>T (p.Pro114Leu)
|
rs876658965
|
|
NM_032043.3(BRIP1):c.3420dup (p.Asp1141fs)
|
|
|
NM_032043.3(BRIP1):c.3422A>C (p.Asp1141Ala)
|
rs1034551306
|
|
NM_032043.3(BRIP1):c.3422A>T (p.Asp1141Val)
|
rs1034551306
|
|
NM_032043.3(BRIP1):c.3425C>G (p.Thr1142Arg)
|
rs1279318199
|
|
NM_032043.3(BRIP1):c.3427G>A (p.Asp1143Asn)
|
rs1217932471
|
|
NM_032043.3(BRIP1):c.3428A>G (p.Asp1143Gly)
|
rs2061307264
|
|
NM_032043.3(BRIP1):c.3429T>G (p.Asp1143Glu)
|
rs1315917374
|
|
NM_032043.3(BRIP1):c.3430G>A (p.Glu1144Lys)
|
|
|
NM_032043.3(BRIP1):c.3430G>C (p.Glu1144Gln)
|
|
|
NM_032043.3(BRIP1):c.3431A>G (p.Glu1144Gly)
|
rs774605759
|
|
NM_032043.3(BRIP1):c.3436A>G (p.Lys1146Glu)
|
rs786202247
|
|
NM_032043.3(BRIP1):c.3437A>G (p.Lys1146Arg)
|
rs1567727955
|
|
NM_032043.3(BRIP1):c.3437A>T (p.Lys1146Ile)
|
rs1567727955
|
|
NM_032043.3(BRIP1):c.3439A>G (p.Asn1147Asp)
|
rs1258403817
|
|
NM_032043.3(BRIP1):c.343C>T (p.Pro115Ser)
|
rs876659142
|
|
NM_032043.3(BRIP1):c.3440dup (p.Asn1147fs)
|
rs753683450
|
|
NM_032043.3(BRIP1):c.3443A>G (p.Asp1148Gly)
|
rs2061306531
|
|
NM_032043.3(BRIP1):c.3449C>G (p.Ala1150Gly)
|
rs1064796059
|
|
NM_032043.3(BRIP1):c.3449C>T (p.Ala1150Val)
|
|
|
NM_032043.3(BRIP1):c.344C>A (p.Pro115His)
|
rs1555617800
|
|
NM_032043.3(BRIP1):c.344C>T (p.Pro115Leu)
|
rs1555617800
|
|
NM_032043.3(BRIP1):c.3451G>A (p.Glu1151Lys)
|
rs1555572587
|
|
NM_032043.3(BRIP1):c.3455_3467del (p.Thr1152fs)
|
|
|
NM_032043.3(BRIP1):c.3458A>G (p.Asp1153Gly)
|
rs1603275027
|
|
NM_032043.3(BRIP1):c.3461G>A (p.Arg1154Lys)
|
|
|
NM_032043.3(BRIP1):c.3461G>C (p.Arg1154Thr)
|
rs1057522433
|
|
NM_032043.3(BRIP1):c.3466A>G (p.Asn1156Asp)
|
|
|
NM_032043.3(BRIP1):c.3467A>G (p.Asn1156Ser)
|
rs1603275008
|
|
NM_032043.3(BRIP1):c.3472T>A (p.Leu1158Met)
|
rs1060504330
|
|
NM_032043.3(BRIP1):c.3473T>G (p.Leu1158Trp)
|
rs876659655
|
|
NM_032043.3(BRIP1):c.3475G>A (p.Ala1159Thr)
|
rs368610199
|
|
NM_032043.3(BRIP1):c.3475G>C (p.Ala1159Pro)
|
rs368610199
|
|
NM_032043.3(BRIP1):c.3475G>T (p.Ala1159Ser)
|
rs368610199
|
|
NM_032043.3(BRIP1):c.3478A>G (p.Asn1160Asp)
|
rs2061305104
|
|
NM_032043.3(BRIP1):c.347C>T (p.Ser116Phe)
|
rs748793974
|
|
NM_032043.3(BRIP1):c.3481_3489dup (p.Asn1161_Asp1163dup)
|
rs2061304922
|
|
NM_032043.3(BRIP1):c.3488A>G (p.Asp1163Gly)
|
rs2061304985
|
|
NM_032043.3(BRIP1):c.3489_3490delinsCG (p.Cys1164Gly)
|
rs2061304770
|
|
NM_032043.3(BRIP1):c.3493A>T (p.Ile1165Phe)
|
rs771889454
|
|
NM_032043.3(BRIP1):c.3496T>G (p.Leu1166Val)
|
rs2144073872
|
|
NM_032043.3(BRIP1):c.3497T>C (p.Leu1166Ser)
|
rs2061304526
|
|
NM_032043.3(BRIP1):c.3499G>C (p.Ala1167Pro)
|
rs1555572570
|
|
NM_032043.3(BRIP1):c.34G>A (p.Gly12Arg)
|
|
|
NM_032043.3(BRIP1):c.3503A>C (p.Lys1168Thr)
|
rs749589266
|
|
NM_032043.3(BRIP1):c.3504del (p.Asp1169fs)
|
|
|
NM_032043.3(BRIP1):c.3506A>C (p.Asp1169Ala)
|
rs2061304201
|
|
NM_032043.3(BRIP1):c.3507C>G (p.Asp1169Glu)
|
rs375741316
|
|
NM_032043.3(BRIP1):c.3508C>G (p.Leu1170Val)
|
rs587782552
|
|
NM_032043.3(BRIP1):c.3508del (p.Leu1170fs)
|
rs2144073489
|
|
NM_032043.3(BRIP1):c.3509T>A (p.Leu1170His)
|
|
|
NM_032043.3(BRIP1):c.3512T>C (p.Phe1171Ser)
|
rs878855155
|
|
NM_032043.3(BRIP1):c.3513del (p.Phe1171fs)
|
|
|
NM_032043.3(BRIP1):c.3517A>C (p.Ile1173Leu)
|
rs2061303840
|
|
NM_032043.3(BRIP1):c.3520A>G (p.Arg1174Gly)
|
rs2144073209
|
|
NM_032043.3(BRIP1):c.3521G>A (p.Arg1174Lys)
|
|
|
NM_032043.3(BRIP1):c.3526A>G (p.Ile1176Val)
|
rs2061303537
|
|
NM_032043.3(BRIP1):c.3528A>G (p.Ile1176Met)
|
|
|
NM_032043.3(BRIP1):c.3528_3529insTTT (p.Ile1176_Lys1177insPhe)
|
|
|
NM_032043.3(BRIP1):c.3530A>G (p.Lys1177Arg)
|
|
|
NM_032043.3(BRIP1):c.3530AAG[1] (p.Glu1178del)
|
rs1567727749
|
|
NM_032043.3(BRIP1):c.3532G>A (p.Glu1178Lys)
|
rs876661115
|
|
NM_032043.3(BRIP1):c.3532G>C (p.Glu1178Gln)
|
rs876661115
|
|
NM_032043.3(BRIP1):c.3533A>G (p.Glu1178Gly)
|
|
|
NM_032043.3(BRIP1):c.3535G>A (p.Val1179Ile)
|
|
|
NM_032043.3(BRIP1):c.3536T>G (p.Val1179Gly)
|
|
|
NM_032043.3(BRIP1):c.3536_3538del (p.Val1179del)
|
rs1603274921
|
|
NM_032043.3(BRIP1):c.3538G>C (p.Asp1180His)
|
rs2061303001
|
|
NM_032043.3(BRIP1):c.3544G>A (p.Ala1182Thr)
|
rs1555572535
|
|
NM_032043.3(BRIP1):c.3551A>G (p.Glu1184Gly)
|
|
|
NM_032043.3(BRIP1):c.3553G>C (p.Val1185Leu)
|
rs1567727691
|
|
NM_032043.3(BRIP1):c.3553G>T (p.Val1185Leu)
|
rs1567727691
|
|
NM_032043.3(BRIP1):c.3557A>G (p.Lys1186Arg)
|
|
|
NM_032043.3(BRIP1):c.3560C>T (p.Ala1187Val)
|
rs1603274878
|
|
NM_032043.3(BRIP1):c.3562G>A (p.Glu1188Lys)
|
rs786201962
|
|
NM_032043.3(BRIP1):c.3563A>G (p.Glu1188Gly)
|
rs2061301893
|
|
NM_032043.3(BRIP1):c.3565G>A (p.Asp1189Asn)
|
|
|
NM_032043.3(BRIP1):c.3569G>C (p.Cys1190Ser)
|
rs2061301683
|
|
NM_032043.3(BRIP1):c.3569_3570delinsCT (p.Cys1190Ser)
|
|
|
NM_032043.3(BRIP1):c.356A>G (p.Asn119Ser)
|
rs889877039
|
|
NM_032043.3(BRIP1):c.3572T>C (p.Ile1191Thr)
|
rs2061301543
|
|
NM_032043.3(BRIP1):c.3575A>G (p.Asp1192Gly)
|
|
|
NM_032043.3(BRIP1):c.3578C>A (p.Thr1193Lys)
|
rs1368343911
|
|
NM_032043.3(BRIP1):c.3578C>G (p.Thr1193Arg)
|
rs1368343911
|
|
NM_032043.3(BRIP1):c.357T>A (p.Asn119Lys)
|
rs786202477
|
|
NM_032043.3(BRIP1):c.3581A>T (p.Lys1194Met)
|
rs2144071092
|
|
NM_032043.3(BRIP1):c.3584_3586delinsGG (p.Leu1195fs)
|
rs1555572519
|
|
NM_032043.3(BRIP1):c.3590G>A (p.Gly1197Glu)
|
rs587781677
|
|
NM_032043.3(BRIP1):c.3592A>T (p.Ile1198Phe)
|
rs2061300867
|
|
NM_032043.3(BRIP1):c.3594T>G (p.Ile1198Met)
|
rs1603274842
|
|
NM_032043.3(BRIP1):c.3595C>G (p.Leu1199Val)
|
rs876659839
|
|
NM_032043.3(BRIP1):c.3597_3598delinsCA (p.His1200Asn)
|
|
|
NM_032043.3(BRIP1):c.3599A>G (p.His1200Arg)
|
rs730881628
|
|
NM_032043.3(BRIP1):c.359G>A (p.Gly120Asp)
|
rs730881637
|
|
NM_032043.3(BRIP1):c.359G>T (p.Gly120Val)
|
|
|
NM_032043.3(BRIP1):c.35G>C (p.Gly12Ala)
|
rs1555618733
|
|
NM_032043.3(BRIP1):c.3601A>G (p.Ile1201Val)
|
|
|
NM_032043.3(BRIP1):c.3602T>C (p.Ile1201Thr)
|
rs2061300384
|
|
NM_032043.3(BRIP1):c.3605A>C (p.Glu1202Ala)
|
rs776010326
|
|
NM_032043.3(BRIP1):c.3607del (p.Glu1203fs)
|
rs2144070111
|
|
NM_032043.3(BRIP1):c.3608A>G (p.Glu1203Gly)
|
rs1403310555
|
|
NM_032043.3(BRIP1):c.3613A>G (p.Lys1205Glu)
|
|
|
NM_032043.3(BRIP1):c.3615A>C (p.Lys1205Asn)
|
rs768156067
|
|
NM_032043.3(BRIP1):c.3616A>G (p.Ile1206Val)
|
|
|
NM_032043.3(BRIP1):c.3617T>C (p.Ile1206Thr)
|
|
|
NM_032043.3(BRIP1):c.3618T>G (p.Ile1206Met)
|
rs2061299577
|
|
NM_032043.3(BRIP1):c.3619G>A (p.Asp1207Asn)
|
|
|
NM_032043.3(BRIP1):c.3622G>A (p.Asp1208Asn)
|
rs760589795
|
|
NM_032043.3(BRIP1):c.3622G>C (p.Asp1208His)
|
rs760589795
|
|
NM_032043.3(BRIP1):c.3625A>G (p.Ile1209Val)
|
rs1603274780
|
|
NM_032043.3(BRIP1):c.3629A>G (p.Asp1210Gly)
|
rs112214651
|
|
NM_032043.3(BRIP1):c.3629_3631del (p.Asp1210del)
|
rs1064794200
|
|
NM_032043.3(BRIP1):c.362C>T (p.Thr121Ile)
|
rs777630298
|
|
NM_032043.3(BRIP1):c.3631G>A (p.Gly1211Ser)
|
rs1567727439
|
|
NM_032043.3(BRIP1):c.3632del (p.Gly1211fs)
|
rs2144069324
|
|
NM_032043.3(BRIP1):c.3634A>G (p.Asn1212Asp)
|
rs2144069259
|
|
NM_032043.3(BRIP1):c.3637G>A (p.Val1213Ile)
|
|
|
NM_032043.3(BRIP1):c.3641A>C (p.Lys1214Thr)
|
|
|
NM_032043.3(BRIP1):c.3642A>C (p.Lys1214Asn)
|
rs2061298986
|
|
NM_032043.3(BRIP1):c.3647C>T (p.Thr1216Ile)
|
rs1567727417
|
|
NM_032043.3(BRIP1):c.364T>G (p.Ser122Ala)
|
rs1555617788
|
|
NM_032043.3(BRIP1):c.3650G>T (p.Trp1217Leu)
|
|
|
NM_032043.3(BRIP1):c.3651G>T (p.Trp1217Cys)
|
rs542698396
|
|
NM_032043.3(BRIP1):c.3655A>C (p.Asn1219His)
|
rs1567727404
|
|
NM_032043.3(BRIP1):c.3656del (p.Asn1219fs)
|
rs2061298543
|
|
NM_032043.3(BRIP1):c.3658G>A (p.Glu1220Lys)
|
rs1555572476
|
|
NM_032043.3(BRIP1):c.3658G>T (p.Glu1220Ter)
|
rs1555572476
|
|
NM_032043.3(BRIP1):c.3659A>G (p.Glu1220Gly)
|
rs2061298409
|
|
NM_032043.3(BRIP1):c.3660A>C (p.Glu1220Asp)
|
|
|
NM_032043.3(BRIP1):c.3661C>G (p.Leu1221Val)
|
rs2061298344
|
|
NM_032043.3(BRIP1):c.3662T>G (p.Leu1221Arg)
|
rs778805688
|
|
NM_032043.3(BRIP1):c.3664G>C (p.Glu1222Gln)
|
rs2144068196
|
|
NM_032043.3(BRIP1):c.3664dup (p.Glu1222fs)
|
rs752586524
|
|
NM_032043.3(BRIP1):c.3665A>T (p.Glu1222Val)
|
rs770175142
|
|
NM_032043.3(BRIP1):c.3667_3673del (p.Leu1223fs)
|
rs2061297923
|
|
NM_032043.3(BRIP1):c.3671G>A (p.Gly1224Glu)
|
|
|
NM_032043.3(BRIP1):c.3674A>C (p.Lys1225Thr)
|
rs2144067914
|
|
NM_032043.3(BRIP1):c.3676del (p.Thr1226fs)
|
rs2144067889
|
|
NM_032043.3(BRIP1):c.3679C>G (p.His1227Asp)
|
rs2061297833
|
|
NM_032043.3(BRIP1):c.3680A>G (p.His1227Arg)
|
rs755069935
|
|
NM_032043.3(BRIP1):c.3680A>T (p.His1227Leu)
|
|
|
NM_032043.3(BRIP1):c.3682G>A (p.Glu1228Lys)
|
|
|
NM_032043.3(BRIP1):c.3685A>C (p.Ile1229Leu)
|
|
|
NM_032043.3(BRIP1):c.3686T>C (p.Ile1229Thr)
|
rs1157058742
|
|
NM_032043.3(BRIP1):c.3691A>G (p.Ile1231Val)
|
rs876659290
|
|
NM_032043.3(BRIP1):c.3692T>C (p.Ile1231Thr)
|
rs780578438
|
|
NM_032043.3(BRIP1):c.3692T>G (p.Ile1231Arg)
|
rs780578438
|
|
NM_032043.3(BRIP1):c.3694A>G (p.Lys1232Glu)
|
|
|
NM_032043.3(BRIP1):c.3695A>G (p.Lys1232Arg)
|
rs1555572446
|
|
NM_032043.3(BRIP1):c.3698A>G (p.Asn1233Ser)
|
|
|
NM_032043.3(BRIP1):c.3700T>C (p.Phe1234Leu)
|
rs878855156
|
|
NM_032043.3(BRIP1):c.3701T>C (p.Phe1234Ser)
|
|
|
NM_032043.3(BRIP1):c.3701T>G (p.Phe1234Cys)
|
rs587778137
|
|
NM_032043.3(BRIP1):c.3702T>G (p.Phe1234Leu)
|
rs2061296981
|
|
NM_032043.3(BRIP1):c.3703A>G (p.Lys1235Glu)
|
rs1567727245
|
|
NM_032043.3(BRIP1):c.3706C>T (p.Pro1236Ser)
|
rs1060501771
|
|
NM_032043.3(BRIP1):c.3707C>T (p.Pro1236Leu)
|
rs1265133595
|
|
NM_032043.3(BRIP1):c.370A>C (p.Thr124Pro)
|
rs45617634
|
|
NM_032043.3(BRIP1):c.370A>G (p.Thr124Ala)
|
rs45617634
|
|
NM_032043.3(BRIP1):c.3710C>A (p.Ser1237Tyr)
|
rs587781819
|
|
NM_032043.3(BRIP1):c.3710C>T (p.Ser1237Phe)
|
rs587781819
|
|
NM_032043.3(BRIP1):c.3712C>A (p.Pro1238Thr)
|
rs1192747697
|
|
NM_032043.3(BRIP1):c.3712_3714del (p.Pro1238del)
|
rs1603274664
|
|
NM_032043.3(BRIP1):c.3715T>C (p.Ser1239Pro)
|
rs587781886
|
|
NM_032043.3(BRIP1):c.371C>A (p.Thr124Asn)
|
rs2145826085
|
|
NM_032043.3(BRIP1):c.3726_3730dup (p.Met1244fs)
|
rs1491231712
|
|
NM_032043.3(BRIP1):c.3728G>A (p.Gly1243Asp)
|
rs765545033
|
|
NM_032043.3(BRIP1):c.3728G>C (p.Gly1243Ala)
|
|
|
NM_032043.3(BRIP1):c.3728G>T (p.Gly1243Val)
|
rs765545033
|
|
NM_032043.3(BRIP1):c.3730A>C (p.Met1244Leu)
|
rs761468878
|
|
NM_032043.3(BRIP1):c.3731T>A (p.Met1244Lys)
|
rs1260819959
|
|
NM_032043.3(BRIP1):c.3731_*5del (p.Met1244fs)
|
rs1555572407
|
|
NM_032043.3(BRIP1):c.3732G>A (p.Met1244Ile)
|
rs753516000
|
|
NM_032043.3(BRIP1):c.3734T>G (p.Phe1245Cys)
|
|
|
NM_032043.3(BRIP1):c.3737C>T (p.Pro1246Leu)
|
rs876660074
|
|
NM_032043.3(BRIP1):c.3740G>A (p.Gly1247Asp)
|
rs2144065748
|
|
NM_032043.3(BRIP1):c.3742T>C (p.Phe1248Leu)
|
rs1567727102
|
|
NM_032043.3(BRIP1):c.3744del (p.Phe1248fs)
|
rs2061295225
|
|
NM_032043.3(BRIP1):c.3747_3750del (p.Lys1249fs)
|
rs1555572410
|
|
NM_032043.3(BRIP1):c.374G>C (p.Cys125Ser)
|
rs876660020
|
|
NM_032043.3(BRIP1):c.374G>T (p.Cys125Phe)
|
rs876660020
|
|
NM_032043.3(BRIP1):c.378A>G (p.Gln126=)
|
rs2145825894
|
|
NM_032043.3(BRIP1):c.379+5T>A
|
rs1603366174
|
|
NM_032043.3(BRIP1):c.37G>A (p.Val13Met)
|
rs1488264110
|
|
NM_032043.3(BRIP1):c.37G>T (p.Val13Leu)
|
|
|
NM_032043.3(BRIP1):c.380-14A>G
|
|
|
NM_032043.3(BRIP1):c.380-18T>A
|
|
|
NM_032043.3(BRIP1):c.383C>T (p.Ser128Phe)
|
rs1603362723
|
|
NM_032043.3(BRIP1):c.385C>T (p.Pro129Ser)
|
rs1555616229
|
|
NM_032043.3(BRIP1):c.386C>A (p.Pro129His)
|
rs587780831
|
|
NM_032043.3(BRIP1):c.386C>G (p.Pro129Arg)
|
rs587780831
|
|
NM_032043.3(BRIP1):c.388G>A (p.Glu130Lys)
|
rs876658860
|
|
NM_032043.3(BRIP1):c.392A>G (p.Lys131Arg)
|
rs2078781626
|
|
NM_032043.3(BRIP1):c.393A>C (p.Lys131Asn)
|
rs2078781577
|
|
NM_032043.3(BRIP1):c.395C>A (p.Thr132Asn)
|
|
|
NM_032043.3(BRIP1):c.396C>G (p.Thr132=)
|
|
|
NM_032043.3(BRIP1):c.396_398dup (p.Thr133_Leu134insThr)
|
|
|
NM_032043.3(BRIP1):c.397A>G (p.Thr133Ala)
|
rs764256720
|
|
NM_032043.3(BRIP1):c.398C>G (p.Thr133Ser)
|
|
|
NM_032043.3(BRIP1):c.401T>C (p.Leu134Pro)
|
|
|
NM_032043.3(BRIP1):c.403G>T (p.Ala135Ser)
|
|
|
NM_032043.3(BRIP1):c.404C>G (p.Ala135Gly)
|
|
|
NM_032043.3(BRIP1):c.404C>T (p.Ala135Val)
|
rs1295736478
|
|
NM_032043.3(BRIP1):c.407C>A (p.Ala136Glu)
|
|
|
NM_032043.3(BRIP1):c.409A>G (p.Lys137Glu)
|
rs878855157
|
|
NM_032043.3(BRIP1):c.40A>G (p.Lys14Glu)
|
rs1555618727
|
|
NM_032043.3(BRIP1):c.415T>C (p.Ser139Pro)
|
|
|
NM_032043.3(BRIP1):c.416C>T (p.Ser139Phe)
|
rs1567868653
|
|
NM_032043.3(BRIP1):c.418G>A (p.Ala140Thr)
|
rs2078780535
|
|
NM_032043.3(BRIP1):c.423G>C (p.Lys141Asn)
|
rs1603362663
|
|
NM_032043.3(BRIP1):c.427_428delinsGG (p.Gln143Gly)
|
|
|
NM_032043.3(BRIP1):c.428A>C (p.Gln143Pro)
|
rs1603362656
|
|
NM_032043.3(BRIP1):c.428A>G (p.Gln143Arg)
|
rs1603362656
|
|
NM_032043.3(BRIP1):c.428A>T (p.Gln143Leu)
|
|
|
NM_032043.3(BRIP1):c.42G>C (p.Lys14Asn)
|
rs2078972704
|
|
NM_032043.3(BRIP1):c.42G>T (p.Lys14Asn)
|
rs2078972704
|
|
NM_032043.3(BRIP1):c.430G>T (p.Ala144Ser)
|
|
|
NM_032043.3(BRIP1):c.431C>A (p.Ala144Glu)
|
rs1555616182
|
|
NM_032043.3(BRIP1):c.436A>G (p.Ile146Val)
|
rs1567868598
|
|
NM_032043.3(BRIP1):c.438A>G (p.Ile146Met)
|
rs886038702
|
|
NM_032043.3(BRIP1):c.439T>C (p.Tyr147His)
|
rs1567868580
|
|
NM_032043.3(BRIP1):c.43A>G (p.Ile15Val)
|
rs1567878177
|
|
NM_032043.3(BRIP1):c.443G>A (p.Arg148Lys)
|
rs1243511600
|
|
NM_032043.3(BRIP1):c.445G>A (p.Asp149Asn)
|
|
|
NM_032043.3(BRIP1):c.446A>G (p.Asp149Gly)
|
rs770613242
|
|
NM_032043.3(BRIP1):c.447T>A (p.Asp149Glu)
|
|
|
NM_032043.3(BRIP1):c.452A>G (p.Asn151Ser)
|
rs1555616165
|
|
NM_032043.3(BRIP1):c.454G>C (p.Asp152His)
|
|
|
NM_032043.3(BRIP1):c.455A>G (p.Asp152Gly)
|
rs2145763474
|
|
NM_032043.3(BRIP1):c.460T>A (p.Phe154Ile)
|
|
|
NM_032043.3(BRIP1):c.463C>G (p.Gln155Glu)
|
rs587781786
|
|
NM_032043.3(BRIP1):c.465A>G (p.Gln155=)
|
rs876659453
|
|
NM_032043.3(BRIP1):c.466G>T (p.Val156Leu)
|
rs876659373
|
|
NM_032043.3(BRIP1):c.467T>C (p.Val156Ala)
|
rs1567868429
|
|
NM_032043.3(BRIP1):c.469G>A (p.Glu157Lys)
|
rs2078778379
|
|
NM_032043.3(BRIP1):c.469G>C (p.Glu157Gln)
|
rs2078778379
|
|
NM_032043.3(BRIP1):c.473A>G (p.Lys158Arg)
|
rs769364081
|
|
NM_032043.3(BRIP1):c.475A>C (p.Lys159Gln)
|
rs2078778116
|
|
NM_032043.3(BRIP1):c.475A>G (p.Lys159Glu)
|
rs2078778116
|
|
NM_032043.3(BRIP1):c.476A>G (p.Lys159Arg)
|
rs1603362575
|
|
NM_032043.3(BRIP1):c.477A>C (p.Lys159Asn)
|
rs2078778020
|
|
NM_032043.3(BRIP1):c.478A>G (p.Arg160Gly)
|
|
|
NM_032043.3(BRIP1):c.479G>T (p.Arg160Ile)
|
rs1330277587
|
|
NM_032043.3(BRIP1):c.481A>G (p.Ile161Val)
|
rs786203916
|
|
NM_032043.3(BRIP1):c.485G>A (p.Arg162Gln)
|
rs61757643
|
|
NM_032043.3(BRIP1):c.485G>C (p.Arg162Pro)
|
rs61757643
|
|
NM_032043.3(BRIP1):c.485G>T (p.Arg162Leu)
|
rs61757643
|
|
NM_032043.3(BRIP1):c.487C>G (p.Pro163Ala)
|
rs1064795902
|
|
NM_032043.3(BRIP1):c.487C>T (p.Pro163Ser)
|
rs1064795902
|
|
NM_032043.3(BRIP1):c.488C>A (p.Pro163His)
|
rs2145761987
|
|
NM_032043.3(BRIP1):c.488C>T (p.Pro163Leu)
|
rs2145761987
|
|
NM_032043.3(BRIP1):c.495A>C (p.Glu165Asp)
|
rs780024960
|
|
NM_032043.3(BRIP1):c.499A>G (p.Thr167Ala)
|
rs1060501738
|
|
NM_032043.3(BRIP1):c.49T>C (p.Phe17Leu)
|
rs1603368465
|
|
NM_032043.3(BRIP1):c.500C>A (p.Thr167Lys)
|
rs758218234
|
|
NM_032043.3(BRIP1):c.500C>T (p.Thr167Ile)
|
rs758218234
|
|
NM_032043.3(BRIP1):c.502C>A (p.Gln168Lys)
|
rs748211848
|
|
NM_032043.3(BRIP1):c.506A>C (p.Gln169Pro)
|
rs2078776978
|
|
NM_032043.3(BRIP1):c.507+3A>G
|
|
|
NM_032043.3(BRIP1):c.507+6C>T
|
rs2078776834
|
|
NM_032043.3(BRIP1):c.507G>T (p.Gln169His)
|
rs876660937
|
|
NM_032043.3(BRIP1):c.508A>G (p.Ile170Val)
|
rs1603361718
|
|
NM_032043.3(BRIP1):c.510T>G (p.Ile170Met)
|
|
|
NM_032043.3(BRIP1):c.514A>G (p.Lys172Glu)
|
rs1060501765
|
|
NM_032043.3(BRIP1):c.518G>C (p.Arg173Pro)
|
rs761432927
|
|
NM_032043.3(BRIP1):c.520C>T (p.His174Tyr)
|
rs776248182
|
|
NM_032043.3(BRIP1):c.524G>A (p.Cys175Tyr)
|
rs2145744852
|
|
NM_032043.3(BRIP1):c.526T>G (p.Phe176Val)
|
rs746963627
|
|
NM_032043.3(BRIP1):c.527T>G (p.Phe176Cys)
|
rs2078748560
|
|
NM_032043.3(BRIP1):c.529G>C (p.Gly177Arg)
|
rs2078748501
|
|
NM_032043.3(BRIP1):c.52C>G (p.Pro18Ala)
|
|
|
NM_032043.3(BRIP1):c.52C>T (p.Pro18Ser)
|
rs1555618724
|
|
NM_032043.3(BRIP1):c.530G>A (p.Gly177Glu)
|
rs2078748443
|
|
NM_032043.3(BRIP1):c.532A>C (p.Thr178Pro)
|
|
|
NM_032043.3(BRIP1):c.533C>G (p.Thr178Arg)
|
rs876658780
|
|
NM_032043.3(BRIP1):c.533C>T (p.Thr178Ile)
|
rs876658780
|
|
NM_032043.3(BRIP1):c.536_538dup (p.Glu179dup)
|
rs1567866837
|
|
NM_032043.3(BRIP1):c.538G>A (p.Val180Ile)
|
rs1603361670
|
|
NM_032043.3(BRIP1):c.538G>C (p.Val180Leu)
|
|
|
NM_032043.3(BRIP1):c.542A>G (p.His181Arg)
|
rs2078748128
|
|
NM_032043.3(BRIP1):c.543C>A (p.His181Gln)
|
|
|
NM_032043.3(BRIP1):c.544A>C (p.Asn182His)
|
|
|
NM_032043.3(BRIP1):c.545A>G (p.Asn182Ser)
|
rs2145744130
|
|
NM_032043.3(BRIP1):c.549G>C (p.Leu183Phe)
|
rs1060504335
|
|
NM_032043.3(BRIP1):c.54T>C (p.Pro18=)
|
rs886053216
|
|
NM_032043.3(BRIP1):c.550G>A (p.Asp184Asn)
|
rs201047375
|
|
NM_032043.3(BRIP1):c.556A>C (p.Lys186Gln)
|
rs730881624
|
|
NM_032043.3(BRIP1):c.559G>T (p.Val187Phe)
|
rs876659064
|
|
NM_032043.3(BRIP1):c.560T>C (p.Val187Ala)
|
rs2078747614
|
|
NM_032043.3(BRIP1):c.566C>T (p.Ser189Leu)
|
rs1555615763
|
|
NM_032043.3(BRIP1):c.568G>A (p.Gly190Arg)
|
|
|
NM_032043.3(BRIP1):c.572A>G (p.Lys191Arg)
|
rs748268716
|
|
NM_032043.3(BRIP1):c.574A>C (p.Thr192Pro)
|
rs2078747261
|
|
NM_032043.3(BRIP1):c.575C>A (p.Thr192Asn)
|
rs1429063662
|
|
NM_032043.3(BRIP1):c.582A>T (p.Lys194Asn)
|
|
|
NM_032043.3(BRIP1):c.587A>C (p.Asn196Thr)
|
|
|
NM_032043.3(BRIP1):c.588C>G (p.Asn196Lys)
|
rs758851721
|
|
NM_032043.3(BRIP1):c.589T>C (p.Ser197Pro)
|
rs530897769
|
|
NM_032043.3(BRIP1):c.590C>A (p.Ser197Tyr)
|
rs533184563
|
|
NM_032043.3(BRIP1):c.590C>G (p.Ser197Cys)
|
rs533184563
|
|
NM_032043.3(BRIP1):c.592C>A (p.Pro198Thr)
|
|
|
NM_032043.3(BRIP1):c.597G>A (p.Leu199=)
|
rs2078746387
|
|
NM_032043.3(BRIP1):c.598G>A (p.Glu200Lys)
|
rs2078746295
|
|
NM_032043.3(BRIP1):c.599A>G (p.Glu200Gly)
|
rs1555615732
|
|
NM_032043.3(BRIP1):c.5C>T (p.Ser2Phe)
|
rs751194347
|
|
NM_032043.3(BRIP1):c.602A>G (p.Lys201Arg)
|
rs1555615729
|
|
NM_032043.3(BRIP1):c.604A>G (p.Ile202Val)
|
rs778275257
|
|
NM_032043.3(BRIP1):c.604A>T (p.Ile202Leu)
|
rs778275257
|
|
NM_032043.3(BRIP1):c.608A>G (p.Asn203Ser)
|
rs2078745913
|
|
NM_032043.3(BRIP1):c.610T>G (p.Ser204Ala)
|
rs761401027
|
|
NM_032043.3(BRIP1):c.611_613del (p.Ser204del)
|
rs1060501731
|
|
NM_032043.3(BRIP1):c.613T>C (p.Phe205Leu)
|
rs1603361561
|
|
NM_032043.3(BRIP1):c.613T>G (p.Phe205Val)
|
rs1603361561
|
|
NM_032043.3(BRIP1):c.620C>T (p.Pro207Leu)
|
rs2145741807
|
|
NM_032043.3(BRIP1):c.625A>G (p.Lys209Glu)
|
rs2078745221
|
|
NM_032043.3(BRIP1):c.626A>G (p.Lys209Arg)
|
rs748912293
|
|
NM_032043.3(BRIP1):c.627+3A>G
|
rs777434654
|
|
NM_032043.3(BRIP1):c.627+6T>C
|
|
|
NM_032043.3(BRIP1):c.627A>G (p.Lys209=)
|
rs1555615717
|
|
NM_032043.3(BRIP1):c.628-2dup
|
|
|
NM_032043.3(BRIP1):c.628-3C>T
|
|
|
NM_032043.3(BRIP1):c.629C>A (p.Pro210His)
|
rs140097800
|
|
NM_032043.3(BRIP1):c.629C>T (p.Pro210Leu)
|
rs140097800
|
|
NM_032043.3(BRIP1):c.62C>A (p.Ala21Asp)
|
rs1603368436
|
|
NM_032043.3(BRIP1):c.62C>T (p.Ala21Val)
|
rs1603368436
|
|
NM_032043.3(BRIP1):c.631C>T (p.Pro211Ser)
|
rs2078117905
|
|
NM_032043.3(BRIP1):c.632C>T (p.Pro211Leu)
|
rs780026145
|
|
NM_032043.3(BRIP1):c.634G>A (p.Gly212Ser)
|
rs1555609387
|
|
NM_032043.3(BRIP1):c.634G>C (p.Gly212Arg)
|
rs1555609387
|
|
NM_032043.3(BRIP1):c.638A>C (p.His213Pro)
|
rs376760085
|
|
NM_032043.3(BRIP1):c.644C>A (p.Ser215Tyr)
|
rs12947398
|
|
NM_032043.3(BRIP1):c.644C>T (p.Ser215Phe)
|
rs12947398
|
|
NM_032043.3(BRIP1):c.645T>G (p.Ser215=)
|
|
|
NM_032043.3(BRIP1):c.646A>G (p.Arg216Gly)
|
rs2078116990
|
|
NM_032043.3(BRIP1):c.648G>A (p.Arg216=)
|
|
|
NM_032043.3(BRIP1):c.649T>A (p.Cys217Ser)
|
rs2145422887
|
|
NM_032043.3(BRIP1):c.64T>A (p.Tyr22Asn)
|
rs876659008
|
|
NM_032043.3(BRIP1):c.650G>A (p.Cys217Tyr)
|
rs587782156
|
|
NM_032043.3(BRIP1):c.650G>T (p.Cys217Phe)
|
rs587782156
|
|
NM_032043.3(BRIP1):c.653G>T (p.Cys218Phe)
|
|
|
NM_032043.3(BRIP1):c.653GTT[1] (p.Cys219del)
|
rs1555609353
|
|
NM_032043.3(BRIP1):c.654T>G (p.Cys218Trp)
|
|
|
NM_032043.3(BRIP1):c.656G>A (p.Cys219Tyr)
|
rs587782238
|
|
NM_032043.3(BRIP1):c.658T>C (p.Ser220Pro)
|
rs1555609351
|
|
NM_032043.3(BRIP1):c.65A>C (p.Tyr22Ser)
|
|
|
NM_032043.3(BRIP1):c.661A>C (p.Thr221Pro)
|
rs777618772
|
|
NM_032043.3(BRIP1):c.667C>G (p.Gln223Glu)
|
|
|
NM_032043.3(BRIP1):c.670G>C (p.Gly224Arg)
|
rs1567838486
|
|
NM_032043.3(BRIP1):c.671G>C (p.Gly224Ala)
|
rs990737815
|
|
NM_032043.3(BRIP1):c.677G>A (p.Ser226Asn)
|
rs2078115717
|
|
NM_032043.3(BRIP1):c.67C>A (p.Pro23Thr)
|
rs1603368425
|
|
NM_032043.3(BRIP1):c.67C>G (p.Pro23Ala)
|
rs1603368425
|
|
NM_032043.3(BRIP1):c.683A>G (p.Glu228Gly)
|
|
|
NM_032043.3(BRIP1):c.684G>T (p.Glu228Asp)
|
rs876659909
|
|
NM_032043.3(BRIP1):c.685T>C (p.Ser229Pro)
|
rs2145421239
|
|
NM_032043.3(BRIP1):c.688T>C (p.Ser230Pro)
|
rs2145421148
|
|
NM_032043.3(BRIP1):c.68C>G (p.Pro23Arg)
|
|
|
NM_032043.3(BRIP1):c.694A>C (p.Thr232Pro)
|
rs2078115132
|
|
NM_032043.3(BRIP1):c.695C>G (p.Thr232Ser)
|
rs762781085
|
|
NM_032043.3(BRIP1):c.697A>G (p.Ile233Val)
|
rs769535320
|
|
NM_032043.3(BRIP1):c.700A>C (p.Lys234Gln)
|
rs1060501780
|
|
NM_032043.3(BRIP1):c.700A>G (p.Lys234Glu)
|
rs1060501780
|
|
NM_032043.3(BRIP1):c.700AAG[1] (p.Lys235del)
|
rs876659379
|
|
NM_032043.3(BRIP1):c.701A>C (p.Lys234Thr)
|
rs587780834
|
|
NM_032043.3(BRIP1):c.706G>C (p.Asp236His)
|
rs1555609300
|
|
NM_032043.3(BRIP1):c.707A>T (p.Asp236Val)
|
rs1567838306
|
|
NM_032043.3(BRIP1):c.710A>G (p.His237Arg)
|
rs1567838288
|
|
NM_032043.3(BRIP1):c.712A>G (p.Thr238Ala)
|
rs1490001091
|
|
NM_032043.3(BRIP1):c.719A>C (p.Lys240Thr)
|
rs1350322711
|
|
NM_032043.3(BRIP1):c.719A>T (p.Lys240Ile)
|
rs1350322711
|
|
NM_032043.3(BRIP1):c.71C>T (p.Ser24Leu)
|
rs1567878087
|
|
NM_032043.3(BRIP1):c.721T>A (p.Ser241Thr)
|
|
|
NM_032043.3(BRIP1):c.725A>G (p.Lys242Arg)
|
rs876660647
|
|
NM_032043.3(BRIP1):c.726G>T (p.Lys242Asn)
|
|
|
NM_032043.3(BRIP1):c.726_734del (p.Pro244_Ile246del)
|
|
|
NM_032043.3(BRIP1):c.727A>T (p.Ile243Leu)
|
rs2078113517
|
|
NM_032043.3(BRIP1):c.730C>G (p.Pro244Ala)
|
|
|
NM_032043.3(BRIP1):c.730_738del (p.Pro244_Ile246del)
|
rs1603346861
|
|
NM_032043.3(BRIP1):c.731C>G (p.Pro244Arg)
|
rs2145419213
|
|
NM_032043.3(BRIP1):c.734A>G (p.Lys245Arg)
|
rs1064795594
|
|
NM_032043.3(BRIP1):c.735A>C (p.Lys245Asn)
|
|
|
NM_032043.3(BRIP1):c.736A>C (p.Ile246Leu)
|
rs376893571
|
|
NM_032043.3(BRIP1):c.736A>T (p.Ile246Leu)
|
rs376893571
|
|
NM_032043.3(BRIP1):c.737T>G (p.Ile246Arg)
|
|
|
NM_032043.3(BRIP1):c.73_74insGAC (p.Ser24_Gln25insArg)
|
rs2145864048
|
|
NM_032043.3(BRIP1):c.743T>C (p.Phe248Ser)
|
rs2078112912
|
|
NM_032043.3(BRIP1):c.746G>A (p.Gly249Glu)
|
rs2078112856
|
|
NM_032043.3(BRIP1):c.748A>T (p.Thr250Ser)
|
rs2078112756
|
|
NM_032043.3(BRIP1):c.749C>G (p.Thr250Arg)
|
rs1555609275
|
|
NM_032043.3(BRIP1):c.752G>C (p.Arg251Pro)
|
rs780834054
|
|
NM_032043.3(BRIP1):c.754A>C (p.Thr252Pro)
|
|
|
NM_032043.3(BRIP1):c.754A>G (p.Thr252Ala)
|
rs1567838131
|
|
NM_032043.3(BRIP1):c.755C>T (p.Thr252Ile)
|
rs1567838124
|
|
NM_032043.3(BRIP1):c.757C>G (p.His253Asp)
|
rs2078112338
|
|
NM_032043.3(BRIP1):c.758A>G (p.His253Arg)
|
rs2078112284
|
|
NM_032043.3(BRIP1):c.759C>G (p.His253Gln)
|
|
|
NM_032043.3(BRIP1):c.761A>G (p.Lys254Arg)
|
rs2145417925
|
|
NM_032043.3(BRIP1):c.764A>C (p.Gln255Pro)
|
rs1567838107
|
|
NM_032043.3(BRIP1):c.764A>G (p.Gln255Arg)
|
rs1567838107
|
|
NM_032043.3(BRIP1):c.766A>G (p.Ile256Val)
|
rs2145417649
|
|
NM_032043.3(BRIP1):c.769G>A (p.Ala257Thr)
|
rs754515912
|
|
NM_032043.3(BRIP1):c.769_777dup (p.Ala257_Ile259dup)
|
rs1603346813
|
|
NM_032043.3(BRIP1):c.770C>T (p.Ala257Val)
|
rs1555609260
|
|
NM_032043.3(BRIP1):c.773A>C (p.Gln258Pro)
|
rs1567838078
|
|
NM_032043.3(BRIP1):c.775A>G (p.Ile259Val)
|
rs2145417254
|
|
NM_032043.3(BRIP1):c.775A>T (p.Ile259Phe)
|
|
|
NM_032043.3(BRIP1):c.77T>C (p.Leu26Pro)
|
rs1603368414
|
|
NM_032043.3(BRIP1):c.77T>G (p.Leu26Arg)
|
rs1603368414
|
|
NM_032043.3(BRIP1):c.781A>G (p.Arg261Gly)
|
rs2078111313
|
|
NM_032043.3(BRIP1):c.783A>T (p.Arg261Ser)
|
rs1441703380
|
|
NM_032043.3(BRIP1):c.784G>A (p.Glu262Lys)
|
rs2145416868
|
|
NM_032043.3(BRIP1):c.785A>C (p.Glu262Ala)
|
rs876658283
|
|
NM_032043.3(BRIP1):c.786G>T (p.Glu262Asp)
|
|
|
NM_032043.3(BRIP1):c.787C>G (p.Leu263Val)
|
rs1060501776
|
|
NM_032043.3(BRIP1):c.788T>C (p.Leu263Pro)
|
|
|
NM_032043.3(BRIP1):c.790C>G (p.Arg264Gly)
|
rs28997569
|
|
NM_032043.3(BRIP1):c.793A>G (p.Arg265Gly)
|
rs876659650
|
|
NM_032043.3(BRIP1):c.795G>T (p.Arg265Ser)
|
rs61754143
|
|
NM_032043.3(BRIP1):c.800C>T (p.Ala267Val)
|
rs730881631
|
|
NM_032043.3(BRIP1):c.803A>G (p.Tyr268Cys)
|
rs2078110465
|
|
NM_032043.3(BRIP1):c.805T>C (p.Ser269Pro)
|
rs2078110345
|
|
NM_032043.3(BRIP1):c.806C>T (p.Ser269Leu)
|
rs1412610651
|
|
NM_032043.3(BRIP1):c.808G>A (p.Gly270Arg)
|
rs1401241698
|
|
NM_032043.3(BRIP1):c.815C>T (p.Pro272Leu)
|
|
|
NM_032043.3(BRIP1):c.817A>C (p.Met273Leu)
|
rs587781797
|
|
NM_032043.3(BRIP1):c.817A>G (p.Met273Val)
|
rs587781797
|
|
NM_032043.3(BRIP1):c.819_824del (p.Met273_Thr274del)
|
rs2145414960
|
|
NM_032043.3(BRIP1):c.823A>C (p.Ile275Leu)
|
|
|
NM_032043.3(BRIP1):c.823A>T (p.Ile275Phe)
|
rs587781425
|
|
NM_032043.3(BRIP1):c.826C>T (p.Leu276Phe)
|
|
|
NM_032043.3(BRIP1):c.82A>G (p.Met28Val)
|
rs1330147176
|
|
NM_032043.3(BRIP1):c.82A>T (p.Met28Leu)
|
rs1330147176
|
|
NM_032043.3(BRIP1):c.832A>C (p.Ser278Arg)
|
rs1567837876
|
|
NM_032043.3(BRIP1):c.832A>G (p.Ser278Gly)
|
rs1567837876
|
|
NM_032043.3(BRIP1):c.836G>A (p.Arg279Lys)
|
|
|
NM_032043.3(BRIP1):c.837G>C (p.Arg279Ser)
|
rs759584091
|
|
NM_032043.3(BRIP1):c.837G>T (p.Arg279Ser)
|
rs759584091
|
|
NM_032043.3(BRIP1):c.838G>T (p.Asp280Tyr)
|
rs2078109366
|
|
NM_032043.3(BRIP1):c.839A>T (p.Asp280Val)
|
|
|
NM_032043.3(BRIP1):c.83T>A (p.Met28Lys)
|
rs786202674
|
|
NM_032043.3(BRIP1):c.841C>A (p.His281Asn)
|
rs1064795442
|
|
NM_032043.3(BRIP1):c.842A>C (p.His281Pro)
|
rs1603346710
|
|
NM_032043.3(BRIP1):c.842A>G (p.His281Arg)
|
|
|
NM_032043.3(BRIP1):c.845C>T (p.Thr282Ile)
|
rs45624635
|
|
NM_032043.3(BRIP1):c.847T>C (p.Cys283Arg)
|
rs1555609186
|
|
NM_032043.3(BRIP1):c.847T>G (p.Cys283Gly)
|
rs1555609186
|
|
NM_032043.3(BRIP1):c.848G>A (p.Cys283Tyr)
|
rs771096783
|
|
NM_032043.3(BRIP1):c.848G>T (p.Cys283Phe)
|
rs771096783
|
|
NM_032043.3(BRIP1):c.851T>C (p.Val284Ala)
|
|
|
NM_032043.3(BRIP1):c.854A>C (p.His285Pro)
|
rs141055990
|
|
NM_032043.3(BRIP1):c.856C>T (p.Pro286Ser)
|
rs770289817
|
|
NM_032043.3(BRIP1):c.857C>G (p.Pro286Arg)
|
rs2078108519
|
|
NM_032043.3(BRIP1):c.85A>G (p.Met29Val)
|
rs2078971287
|
|
NM_032043.3(BRIP1):c.861G>C (p.Glu287Asp)
|
rs1603346684
|
|
NM_032043.3(BRIP1):c.863T>C (p.Val288Ala)
|
rs1375475281
|
|
NM_032043.3(BRIP1):c.865G>A (p.Val289Ile)
|
rs1567837768
|
|
NM_032043.3(BRIP1):c.865G>C (p.Val289Leu)
|
rs1567837768
|
|
NM_032043.3(BRIP1):c.866T>G (p.Val289Gly)
|
rs2078108215
|
|
NM_032043.3(BRIP1):c.868G>A (p.Gly290Ser)
|
rs145601931
|
|
NM_032043.3(BRIP1):c.869G>C (p.Gly290Ala)
|
rs148556781
|
|
NM_032043.3(BRIP1):c.87G>T (p.Met29Ile)
|
rs769585673
|
|
NM_032043.3(BRIP1):c.886G>A (p.Glu296Lys)
|
rs876660125
|
|
NM_032043.3(BRIP1):c.887A>C (p.Glu296Ala)
|
rs878855158
|
|
NM_032043.3(BRIP1):c.888G>C (p.Glu296Asp)
|
rs876658249
|
|
NM_032043.3(BRIP1):c.889A>C (p.Lys297Gln)
|
rs876658528
|
|
NM_032043.3(BRIP1):c.88A>C (p.Asn30His)
|
|
|
NM_032043.3(BRIP1):c.890A>C (p.Lys297Thr)
|
rs28997570
|
|
NM_032043.3(BRIP1):c.890A>T (p.Lys297Met)
|
|
|
NM_032043.3(BRIP1):c.892T>C (p.Cys298Arg)
|
rs1555609145
|
|
NM_032043.3(BRIP1):c.893G>A (p.Cys298Tyr)
|
|
|
NM_032043.3(BRIP1):c.894C>G (p.Cys298Trp)
|
|
|
NM_032043.3(BRIP1):c.894C>T (p.Cys298=)
|
rs2078107086
|
|
NM_032043.3(BRIP1):c.895A>C (p.Met299Leu)
|
|
|
NM_032043.3(BRIP1):c.895A>G (p.Met299Val)
|
rs1242769076
|
|
NM_032043.3(BRIP1):c.896T>C (p.Met299Thr)
|
rs2078106961
|
|
NM_032043.3(BRIP1):c.897G>A (p.Met299Ile)
|
rs137852985
|
|
NM_032043.3(BRIP1):c.8C>A (p.Ser3Ter)
|
rs1603368491
|
|
NM_032043.3(BRIP1):c.901T>G (p.Leu301Val)
|
|
|
NM_032043.3(BRIP1):c.902T>C (p.Leu301Ser)
|
rs750376292
|
|
NM_032043.3(BRIP1):c.905T>C (p.Leu302Pro)
|
|
|
NM_032043.3(BRIP1):c.907G>T (p.Asp303Tyr)
|
rs2145410870
|
|
NM_032043.3(BRIP1):c.908A>G (p.Asp303Gly)
|
rs1555609130
|
|
NM_032043.3(BRIP1):c.910G>A (p.Gly304Arg)
|
rs1567837588
|
|
NM_032043.3(BRIP1):c.911G>A (p.Gly304Glu)
|
rs1459305482
|
|
NM_032043.3(BRIP1):c.914A>C (p.Lys305Thr)
|
|
|
NM_032043.3(BRIP1):c.917A>G (p.Asn306Ser)
|
rs1567837564
|
|
NM_032043.3(BRIP1):c.918+5G>A
|
rs2078106072
|
|
NM_032043.3(BRIP1):c.919-10T>A
|
|
|
NM_032043.3(BRIP1):c.919-3T>C
|
rs2077994124
|
|
NM_032043.3(BRIP1):c.920G>A (p.Gly307Glu)
|
rs1603343427
|
|
NM_032043.3(BRIP1):c.920G>C (p.Gly307Ala)
|
rs1603343427
|
|
NM_032043.3(BRIP1):c.926C>A (p.Ser309Tyr)
|
rs2077993753
|
|
NM_032043.3(BRIP1):c.926C>T (p.Ser309Phe)
|
rs2077993753
|
|
NM_032043.3(BRIP1):c.929G>A (p.Cys310Tyr)
|
rs1567832184
|
|
NM_032043.3(BRIP1):c.929G>C (p.Cys310Ser)
|
rs1567832184
|
|
NM_032043.3(BRIP1):c.929_931del (p.Cys310del)
|
rs2145342477
|
|
NM_032043.3(BRIP1):c.93+3A>C
|
|
|
NM_032043.3(BRIP1):c.93+4A>T
|
|
|
NM_032043.3(BRIP1):c.93+4_93+7del
|
rs1224034842
|
|
NM_032043.3(BRIP1):c.93+5G>A
|
rs730881629
|
|
NM_032043.3(BRIP1):c.93+6T>C
|
rs2078970954
|
|
NM_032043.3(BRIP1):c.93+8T>G
|
rs1567878012
|
|
NM_032043.3(BRIP1):c.931T>C (p.Tyr311His)
|
rs1603343412
|
|
NM_032043.3(BRIP1):c.932A>T (p.Tyr311Phe)
|
rs587782731
|
|
NM_032043.3(BRIP1):c.934T>A (p.Phe312Ile)
|
rs2145342258
|
|
NM_032043.3(BRIP1):c.93T>C (p.Ser31=)
|
rs1555618697
|
|
NM_032043.3(BRIP1):c.94-5C>G
|
rs2078952191
|
|
NM_032043.3(BRIP1):c.940C>T (p.His314Tyr)
|
|
|
NM_032043.3(BRIP1):c.941A>G (p.His314Arg)
|
rs112076926
|
|
NM_032043.3(BRIP1):c.944G>A (p.Gly315Glu)
|
rs867548960
|
|
NM_032043.3(BRIP1):c.944G>T (p.Gly315Val)
|
rs867548960
|
|
NM_032043.3(BRIP1):c.945A>G (p.Gly315=)
|
|
|
NM_032043.3(BRIP1):c.949C>G (p.His317Asp)
|
|
|
NM_032043.3(BRIP1):c.94A>T (p.Ile32Phe)
|
rs776386693
|
|
NM_032043.3(BRIP1):c.953A>G (p.Lys318Arg)
|
rs2077992906
|
|
NM_032043.3(BRIP1):c.958A>G (p.Ser320Gly)
|
rs2145341128
|
|
NM_032043.3(BRIP1):c.961G>A (p.Asp321Asn)
|
|
|
NM_032043.3(BRIP1):c.962A>G (p.Asp321Gly)
|
rs2077992652
|
|
NM_032043.3(BRIP1):c.965A>G (p.Gln322Arg)
|
rs1567832102
|
|
NM_032043.3(BRIP1):c.967C>T (p.His323Tyr)
|
rs2077992477
|
|
NM_032043.3(BRIP1):c.969C>A (p.His323Gln)
|
rs1555607775
|
|
NM_032043.3(BRIP1):c.969C>G (p.His323Gln)
|
rs1555607775
|
|
NM_032043.3(BRIP1):c.975A>T (p.Leu325Phe)
|
rs771630777
|
|
NM_032043.3(BRIP1):c.976C>G (p.Gln326Glu)
|
rs1555607768
|
|
NM_032043.3(BRIP1):c.977A>G (p.Gln326Arg)
|
rs1064794046
|
|
NM_032043.3(BRIP1):c.97C>G (p.Leu33Val)
|
|
|
NM_032043.3(BRIP1):c.980C>T (p.Thr327Ile)
|
rs2145339793
|
|
NM_032043.3(BRIP1):c.983T>A (p.Phe328Tyr)
|
|
|
NM_032043.3(BRIP1):c.983T>C (p.Phe328Ser)
|
rs876659057
|
|
NM_032043.3(BRIP1):c.986A>G (p.Gln329Arg)
|
rs778863018
|
|
NM_032043.3(BRIP1):c.992T>A (p.Met331Lys)
|
|
|
NM_032043.3(BRIP1):c.993G>A (p.Met331Ile)
|
rs587780252
|
|
NM_032043.3(BRIP1):c.995G>A (p.Cys332Tyr)
|
rs876660521
|
|
NM_032043.3(BRIP1):c.997A>G (p.Lys333Glu)
|
rs757196702
|
|
NM_032043.3(BRIP1):c.998A>G (p.Lys333Arg)
|
rs2145338700
|
|
NM_032444.4(SLX4):c.*298_*301del
|
rs566716185
|
|
NM_032444.4(SLX4):c.*469A>T
|
rs868278470
|
|
NM_032444.4(SLX4):c.*493G>T
|
rs530681898
|
|
NM_032444.4(SLX4):c.*54A>C
|
rs1596514118
|
|
NM_032444.4(SLX4):c.*82C>T
|
rs2040444401
|
|
NM_032444.4(SLX4):c.*944A>G
|
rs1032936956
|
|
NM_032444.4(SLX4):c.-143_-140del
|
rs779611690
|
|
NM_032444.4(SLX4):c.-210G>A
|
rs747849749
|
|
NM_032444.4(SLX4):c.-211dup
|
rs149138178
|
|
NM_032444.4(SLX4):c.-614G>C
|
rs2040876181
|
|
NM_032444.4(SLX4):c.-631G>A
|
rs1430818218
|
|
NM_032444.4(SLX4):c.1010C>A (p.Pro337Gln)
|
rs200363140
|
|
NM_032444.4(SLX4):c.1018G>A (p.Gly340Arg)
|
|
|
NM_032444.4(SLX4):c.1019G>C (p.Gly340Ala)
|
|
|
NM_032444.4(SLX4):c.101A>T (p.Gln34Leu)
|
rs1567178416
|
|
NM_032444.4(SLX4):c.1025C>T (p.Pro342Leu)
|
|
|
NM_032444.4(SLX4):c.103C>T (p.Pro35Ser)
|
rs2040816588
|
|
NM_032444.4(SLX4):c.1045A>G (p.Arg349Gly)
|
|
|
NM_032444.4(SLX4):c.1055A>G (p.His352Arg)
|
|
|
NM_032444.4(SLX4):c.1059G>C (p.Leu353Phe)
|
rs1431335924
|
|
NM_032444.4(SLX4):c.1062G>T (p.Lys354Asn)
|
rs2151134083
|
|
NM_032444.4(SLX4):c.1076A>T (p.Lys359Met)
|
rs2151134068
|
|
NM_032444.4(SLX4):c.107A>T (p.Glu36Val)
|
rs370082083
|
|
NM_032444.4(SLX4):c.1080G>A (p.Met360Ile)
|
|
|
NM_032444.4(SLX4):c.1083G>C (p.Glu361Asp)
|
rs1361684518
|
|
NM_032444.4(SLX4):c.1084G>C (p.Val362Leu)
|
rs2040721687
|
|
NM_032444.4(SLX4):c.1090C>T (p.Pro364Ser)
|
rs775276756
|
|
NM_032444.4(SLX4):c.1091C>A (p.Pro364His)
|
|
|
NM_032444.4(SLX4):c.1094A>G (p.Gln365Arg)
|
rs1243083910
|
|
NM_032444.4(SLX4):c.1094A>T (p.Gln365Leu)
|
|
|
NM_032444.4(SLX4):c.1097_1098delinsAA (p.Leu366Gln)
|
rs2151134024
|
|
NM_032444.4(SLX4):c.1108G>C (p.Ala370Pro)
|
|
|
NM_032444.4(SLX4):c.1110T>C (p.Ala370=)
|
rs886051981
|
|
NM_032444.4(SLX4):c.1114C>T (p.Arg372Trp)
|
rs781393524
|
|
NM_032444.4(SLX4):c.1115G>T (p.Arg372Leu)
|
rs372956623
|
|
NM_032444.4(SLX4):c.1123A>C (p.Thr375Pro)
|
rs2151133974
|
|
NM_032444.4(SLX4):c.1130A>G (p.Gln377Arg)
|
|
|
NM_032444.4(SLX4):c.1141AGC[2] (p.Ser383del)
|
rs938490986
|
|
NM_032444.4(SLX4):c.1142G>A (p.Ser381Asn)
|
rs2040720721
|
|
NM_032444.4(SLX4):c.1151_1152inv (p.Pro384Leu)
|
|
|
NM_032444.4(SLX4):c.1164-9G>A
|
rs2040686112
|
|
NM_032444.4(SLX4):c.1175A>C (p.His392Pro)
|
rs2151132152
|
|
NM_032444.4(SLX4):c.1186C>G (p.Leu396Val)
|
rs1596528058
|
|
NM_032444.4(SLX4):c.1193G>C (p.Arg398Pro)
|
rs200030312
|
|
NM_032444.4(SLX4):c.1195A>G (p.Arg399Gly)
|
rs2040685339
|
|
NM_032444.4(SLX4):c.1207_1208delinsCC (p.Ser403Pro)
|
|
|
NM_032444.4(SLX4):c.1212G>C (p.Lys404Asn)
|
|
|
NM_032444.4(SLX4):c.1226A>G (p.Lys409Arg)
|
rs2151132042
|
|
NM_032444.4(SLX4):c.1237G>C (p.Val413Leu)
|
|
|
NM_032444.4(SLX4):c.1246G>A (p.Ala416Thr)
|
rs1273526453
|
|
NM_032444.4(SLX4):c.1250C>T (p.Pro417Leu)
|
|
|
NM_032444.4(SLX4):c.1259A>G (p.Asp420Gly)
|
rs1596527931
|
|
NM_032444.4(SLX4):c.1274T>C (p.Met425Thr)
|
|
|
NM_032444.4(SLX4):c.1276G>T (p.Ala426Ser)
|
|
|
NM_032444.4(SLX4):c.1283C>T (p.Ser428Phe)
|
|
|
NM_032444.4(SLX4):c.1286G>A (p.Arg429Gln)
|
|
|
NM_032444.4(SLX4):c.1286G>T (p.Arg429Leu)
|
|
|
NM_032444.4(SLX4):c.1298A>G (p.Glu433Gly)
|
rs2151131871
|
|
NM_032444.4(SLX4):c.1302G>A (p.Pro434=)
|
|
|
NM_032444.4(SLX4):c.1322T>A (p.Leu441His)
|
rs2040681820
|
|
NM_032444.4(SLX4):c.1322T>C (p.Leu441Pro)
|
|
|
NM_032444.4(SLX4):c.1325G>C (p.Arg442Thr)
|
rs886051979
|
|
NM_032444.4(SLX4):c.1331A>C (p.Glu444Ala)
|
rs2040681362
|
|
NM_032444.4(SLX4):c.1334G>A (p.Ser445Asn)
|
rs2151131780
|
|
NM_032444.4(SLX4):c.1352T>A (p.Ile451Lys)
|
rs1380174760
|
|
NM_032444.4(SLX4):c.1366+16A>T
|
|
|
NM_032444.4(SLX4):c.1366+4T>C
|
|
|
NM_032444.4(SLX4):c.1366+6T>C
|
rs756854257
|
|
NM_032444.4(SLX4):c.1373A>G (p.Lys458Arg)
|
|
|
NM_032444.4(SLX4):c.1379G>T (p.Arg460Leu)
|
rs369994733
|
|
NM_032444.4(SLX4):c.1390C>A (p.Pro464Thr)
|
rs2040679198
|
|
NM_032444.4(SLX4):c.1396G>A (p.Val466Ile)
|
|
|
NM_032444.4(SLX4):c.139T>G (p.Ser47Ala)
|
|
|
NM_032444.4(SLX4):c.1400C>A (p.Ser467Tyr)
|
|
|
NM_032444.4(SLX4):c.1400C>T (p.Ser467Phe)
|
|
|
NM_032444.4(SLX4):c.1405C>A (p.Pro469Thr)
|
rs763833617
|
|
NM_032444.4(SLX4):c.1405C>T (p.Pro469Ser)
|
rs763833617
|
|
NM_032444.4(SLX4):c.1421A>G (p.Gln474Arg)
|
|
|
NM_032444.4(SLX4):c.1438G>A (p.Gly480Ser)
|
rs2151131486
|
|
NM_032444.4(SLX4):c.1444C>G (p.Gln482Glu)
|
rs1567174047
|
|
NM_032444.4(SLX4):c.1448T>C (p.Ile483Thr)
|
|
|
NM_032444.4(SLX4):c.1450G>A (p.Glu484Lys)
|
|
|
NM_032444.4(SLX4):c.1475C>G (p.Ser492Cys)
|
|
|
NM_032444.4(SLX4):c.1498A>C (p.Thr500Pro)
|
|
|
NM_032444.4(SLX4):c.1499C>A (p.Thr500Lys)
|
|
|
NM_032444.4(SLX4):c.1507C>T (p.Leu503Phe)
|
|
|
NM_032444.4(SLX4):c.1546G>T (p.Ala516Ser)
|
rs1260563876
|
|
NM_032444.4(SLX4):c.1550G>A (p.Gly517Asp)
|
rs772562892
|
|
NM_032444.4(SLX4):c.1553A>G (p.Gln518Arg)
|
|
|
NM_032444.4(SLX4):c.1557TCC[2] (p.Pro523del)
|
rs761510940
|
|
NM_032444.4(SLX4):c.1559C>G (p.Pro520Arg)
|
|
|
NM_032444.4(SLX4):c.1568C>G (p.Pro523Arg)
|
rs2040675640
|
|
NM_032444.4(SLX4):c.1571A>T (p.Glu524Val)
|
|
|
NM_032444.4(SLX4):c.1594G>A (p.Glu532Lys)
|
rs2040675047
|
|
NM_032444.4(SLX4):c.1596G>C (p.Glu532Asp)
|
rs2151131185
|
|
NM_032444.4(SLX4):c.1598G>T (p.Gly533Val)
|
rs369243098
|
|
NM_032444.4(SLX4):c.1615G>A (p.Ala539Thr)
|
rs772612094
|
|
NM_032444.4(SLX4):c.1629_1630delinsAC (p.Asp544His)
|
rs2040674138
|
|
NM_032444.4(SLX4):c.1643C>G (p.Ala548Gly)
|
|
|
NM_032444.4(SLX4):c.1646G>C (p.Arg549Thr)
|
|
|
NM_032444.4(SLX4):c.1655C>T (p.Pro552Leu)
|
|
|
NM_032444.4(SLX4):c.1663G>A (p.Val555Met)
|
rs763869769
|
|
NM_032444.4(SLX4):c.1672C>T (p.Arg558Trp)
|
rs372264472
|
|
NM_032444.4(SLX4):c.1673G>T (p.Arg558Leu)
|
|
|
NM_032444.4(SLX4):c.1683+20C>T
|
rs776626195
|
|
NM_032444.4(SLX4):c.1692G>A (p.Met564Ile)
|
rs2151130279
|
|
NM_032444.4(SLX4):c.1699C>T (p.Pro567Ser)
|
rs765739226
|
|
NM_032444.4(SLX4):c.16A>T (p.Asn6Tyr)
|
rs1420004804
|
|
NM_032444.4(SLX4):c.1705C>T (p.Pro569Ser)
|
|
|
NM_032444.4(SLX4):c.1720C>G (p.Pro574Ala)
|
rs2040659325
|
|
NM_032444.4(SLX4):c.1738A>G (p.Ser580Gly)
|
|
|
NM_032444.4(SLX4):c.1748G>A (p.Arg583Lys)
|
rs750768695
|
|
NM_032444.4(SLX4):c.1748G>C (p.Arg583Thr)
|
|
|
NM_032444.4(SLX4):c.1759C>T (p.Leu587Phe)
|
|
|
NM_032444.4(SLX4):c.1766G>T (p.Gly589Val)
|
|
|
NM_032444.4(SLX4):c.1790C>G (p.Ser597Cys)
|
|
|
NM_032444.4(SLX4):c.1796G>A (p.Gly599Asp)
|
|
|
NM_032444.4(SLX4):c.1799C>A (p.Pro600Gln)
|
rs749277750
|
|
NM_032444.4(SLX4):c.1799C>T (p.Pro600Leu)
|
rs749277750
|
|
NM_032444.4(SLX4):c.1808C>G (p.Ser603Trp)
|
|
|
NM_032444.4(SLX4):c.1824G>T (p.Glu608Asp)
|
rs1028896815
|
|
NM_032444.4(SLX4):c.1844T>C (p.Leu615Pro)
|
|
|
NM_032444.4(SLX4):c.1880C>T (p.Pro627Leu)
|
rs774683778
|
|
NM_032444.4(SLX4):c.1892G>C (p.Ser631Thr)
|
rs2151129871
|
|
NM_032444.4(SLX4):c.1893T>G (p.Ser631Arg)
|
|
|
NM_032444.4(SLX4):c.1898G>T (p.Gly633Val)
|
rs1056085
|
|
NM_032444.4(SLX4):c.1904C>A (p.Ala635Asp)
|
|
|
NM_032444.4(SLX4):c.1913A>C (p.Glu638Ala)
|
|
|
NM_032444.4(SLX4):c.1917G>T (p.Gly639=)
|
|
|
NM_032444.4(SLX4):c.1925-3C>T
|
rs1567172965
|
|
NM_032444.4(SLX4):c.1928T>C (p.Leu643Ser)
|
rs2151129378
|
|
NM_032444.4(SLX4):c.192A>C (p.Lys64Asn)
|
rs756720856
|
|
NM_032444.4(SLX4):c.1948C>T (p.Leu650Phe)
|
|
|
NM_032444.4(SLX4):c.1964T>C (p.Phe655Ser)
|
rs1567172921
|
|
NM_032444.4(SLX4):c.1969G>T (p.Val657Leu)
|
|
|
NM_032444.4(SLX4):c.1991C>A (p.Pro664Gln)
|
|
|
NM_032444.4(SLX4):c.2002G>A (p.Gly668Ser)
|
|
|
NM_032444.4(SLX4):c.2013+5G>T
|
|
|
NM_032444.4(SLX4):c.2013+6A>C
|
rs2151129261
|
|
NM_032444.4(SLX4):c.2014-3C>T
|
|
|
NM_032444.4(SLX4):c.2014C>T (p.Leu672Phe)
|
|
|
NM_032444.4(SLX4):c.2023G>C (p.Gly675Arg)
|
rs767473953
|
|
NM_032444.4(SLX4):c.2027T>C (p.Leu676Pro)
|
|
|
NM_032444.4(SLX4):c.202A>G (p.Lys68Glu)
|
|
|
NM_032444.4(SLX4):c.2045G>T (p.Gly682Val)
|
rs765804056
|
|
NM_032444.4(SLX4):c.2047G>C (p.Ala683Pro)
|
rs115866745
|
|
NM_032444.4(SLX4):c.2054T>G (p.Val685Gly)
|
|
|
NM_032444.4(SLX4):c.2057A>G (p.Asn686Ser)
|
rs571330689
|
|
NM_032444.4(SLX4):c.2072G>A (p.Ser691Asn)
|
rs1596525216
|
|
NM_032444.4(SLX4):c.208G>C (p.Val70Leu)
|
|
|
NM_032444.4(SLX4):c.2093A>C (p.Asp698Ala)
|
|
|
NM_032444.4(SLX4):c.2117A>T (p.His706Leu)
|
rs2151128459
|
|
NM_032444.4(SLX4):c.2120A>G (p.Lys707Arg)
|
rs1555450869
|
|
NM_032444.4(SLX4):c.2150T>C (p.Leu717Pro)
|
rs1596525067
|
|
NM_032444.4(SLX4):c.2160+8C>A
|
|
|
NM_032444.4(SLX4):c.2160T>C (p.Tyr720=)
|
|
|
NM_032444.4(SLX4):c.2161-6C>A
|
rs2151127337
|
|
NM_032444.4(SLX4):c.2168A>G (p.Asn723Ser)
|
rs2151127319
|
|
NM_032444.4(SLX4):c.2185G>A (p.Val729Ile)
|
|
|
NM_032444.4(SLX4):c.2187A>G (p.Val729=)
|
rs2040609293
|
|
NM_032444.4(SLX4):c.2191G>A (p.Asp731Asn)
|
|
|
NM_032444.4(SLX4):c.2194G>A (p.Gly732Arg)
|
rs202189103
|
|
NM_032444.4(SLX4):c.2197G>C (p.Val733Leu)
|
rs1555450668
|
|
NM_032444.4(SLX4):c.2209C>T (p.Arg737Cys)
|
rs140706384
|
|
NM_032444.4(SLX4):c.2222G>A (p.Gly741Asp)
|
|
|
NM_032444.4(SLX4):c.2231G>A (p.Ser744Asn)
|
rs1307528536
|
|
NM_032444.4(SLX4):c.2246G>T (p.Arg749Leu)
|
|
|
NM_032444.4(SLX4):c.2251T>G (p.Phe751Val)
|
|
|
NM_032444.4(SLX4):c.2261A>G (p.Tyr754Cys)
|
rs771002901
|
|
NM_032444.4(SLX4):c.2264T>C (p.Leu755Pro)
|
|
|
NM_032444.4(SLX4):c.2278A>G (p.Thr760Ala)
|
rs2040607353
|
|
NM_032444.4(SLX4):c.230A>G (p.Gln77Arg)
|
|
|
NM_032444.4(SLX4):c.2328-11T>C
|
rs1390856264
|
|
NM_032444.4(SLX4):c.2335G>C (p.Val779Leu)
|
rs768126392
|
|
NM_032444.4(SLX4):c.2347G>A (p.Val783Ile)
|
rs771580450
|
|
NM_032444.4(SLX4):c.2357G>A (p.Cys786Tyr)
|
rs1282868817
|
|
NM_032444.4(SLX4):c.2363A>G (p.Gln788Arg)
|
|
|
NM_032444.4(SLX4):c.2363A>T (p.Gln788Leu)
|
rs748659860
|
|
NM_032444.4(SLX4):c.2364G>C (p.Gln788His)
|
|
|
NM_032444.4(SLX4):c.2368C>T (p.Pro790Ser)
|
|
|
NM_032444.4(SLX4):c.2371A>G (p.Ile791Val)
|
rs1422973391
|
|
NM_032444.4(SLX4):c.2372T>G (p.Ile791Ser)
|
rs2040591427
|
|
NM_032444.4(SLX4):c.2401GAG[1] (p.Glu802del)
|
rs2151125964
|
|
NM_032444.4(SLX4):c.2416G>C (p.Glu806Gln)
|
|
|
NM_032444.4(SLX4):c.2418G>T (p.Glu806Asp)
|
rs2151125944
|
|
NM_032444.4(SLX4):c.2435C>T (p.Ala812Val)
|
|
|
NM_032444.4(SLX4):c.2441A>G (p.Asn814Ser)
|
rs777299783
|
|
NM_032444.4(SLX4):c.2451A>C (p.Glu817Asp)
|
|
|
NM_032444.4(SLX4):c.2473G>T (p.Asp825Tyr)
|
|
|
NM_032444.4(SLX4):c.2478_2480del (p.Glu829del)
|
|
|
NM_032444.4(SLX4):c.2480A>G (p.Glu827Gly)
|
rs1488400493
|
|
NM_032444.4(SLX4):c.248G>A (p.Gly83Asp)
|
|
|
NM_032444.4(SLX4):c.248G>C (p.Gly83Ala)
|
rs771698977
|
|
NM_032444.4(SLX4):c.2494A>G (p.Thr832Ala)
|
rs1345752601
|
|
NM_032444.4(SLX4):c.2510A>G (p.Lys837Arg)
|
rs2151125769
|
|
NM_032444.4(SLX4):c.2517C>G (p.His839Gln)
|
|
|
NM_032444.4(SLX4):c.2520AGA[1] (p.Glu841del)
|
rs2151125733
|
|
NM_032444.4(SLX4):c.2535C>A (p.Asn845Lys)
|
|
|
NM_032444.4(SLX4):c.2536G>A (p.Val846Met)
|
|
|
NM_032444.4(SLX4):c.254A>G (p.Gln85Arg)
|
rs878855160
|
|
NM_032444.4(SLX4):c.2553G>A (p.Met851Ile)
|
rs2040587848
|
|
NM_032444.4(SLX4):c.256A>T (p.Ile86Leu)
|
|
|
NM_032444.4(SLX4):c.2576C>G (p.Ala859Gly)
|
|
|
NM_032444.4(SLX4):c.2620G>C (p.Gly874Arg)
|
rs113420526
|
|
NM_032444.4(SLX4):c.2621G>T (p.Gly874Val)
|
|
|
NM_032444.4(SLX4):c.2637G>C (p.Trp879Cys)
|
rs1276786771
|
|
NM_032444.4(SLX4):c.2650A>G (p.Ser884Gly)
|
|
|
NM_032444.4(SLX4):c.2666A>G (p.Gln889Arg)
|
|
|
NM_032444.4(SLX4):c.2675C>T (p.Ala892Val)
|
rs1368217140
|
|
NM_032444.4(SLX4):c.2688G>A (p.Val896=)
|
rs758166923
|
|
NM_032444.4(SLX4):c.2706G>T (p.Lys902Asn)
|
|
|
NM_032444.4(SLX4):c.2710GAG[1] (p.Glu905del)
|
rs1292828765
|
|
NM_032444.4(SLX4):c.2719G>C (p.Glu907Gln)
|
rs1408881754
|
|
NM_032444.4(SLX4):c.2720A>G (p.Glu907Gly)
|
|
|
NM_032444.4(SLX4):c.2721G>T (p.Glu907Asp)
|
rs141450907
|
|
NM_032444.4(SLX4):c.2723C>T (p.Pro908Leu)
|
|
|
NM_032444.4(SLX4):c.2728G>C (p.Glu910Gln)
|
rs2151125290
|
|
NM_032444.4(SLX4):c.2731C>G (p.Pro911Ala)
|
rs2151125280
|
|
NM_032444.4(SLX4):c.2742T>G (p.Asp914Glu)
|
rs1060504342
|
|
NM_032444.4(SLX4):c.2746GCC[3] (p.Ala917dup)
|
rs2151125227
|
|
NM_032444.4(SLX4):c.2747C>T (p.Ala916Val)
|
rs2151125242
|
|
NM_032444.4(SLX4):c.2766G>T (p.Lys922Asn)
|
|
|
NM_032444.4(SLX4):c.2777G>A (p.Cys926Tyr)
|
|
|
NM_032444.4(SLX4):c.2789C>G (p.Pro930Arg)
|
|
|
NM_032444.4(SLX4):c.278C>T (p.Thr93Ile)
|
rs2151139524
|
|
NM_032444.4(SLX4):c.2812G>C (p.Ala938Pro)
|
rs2151125038
|
|
NM_032444.4(SLX4):c.2815C>T (p.Arg939Trp)
|
|
|
NM_032444.4(SLX4):c.2816G>C (p.Arg939Pro)
|
rs768474876
|
|
NM_032444.4(SLX4):c.2821G>A (p.Ala941Thr)
|
|
|
NM_032444.4(SLX4):c.2825A>T (p.Glu942Val)
|
rs2040579815
|
|
NM_032444.4(SLX4):c.2827G>A (p.Ala943Thr)
|
|
|
NM_032444.4(SLX4):c.2833G>A (p.Glu945Lys)
|
|
|
NM_032444.4(SLX4):c.2835G>C (p.Glu945Asp)
|
rs2040579474
|
|
NM_032444.4(SLX4):c.2846C>T (p.Pro949Leu)
|
|
|
NM_032444.4(SLX4):c.2851G>A (p.Glu951Lys)
|
rs1555450353
|
|
NM_032444.4(SLX4):c.2854_2856delinsATA (p.Ala952Ile)
|
rs2040578747
|
|
NM_032444.4(SLX4):c.2857C>G (p.Leu953Val)
|
rs1185482904
|
|
NM_032444.4(SLX4):c.2860G>A (p.Gly954Ser)
|
|
|
NM_032444.4(SLX4):c.2881C>A (p.Pro961Thr)
|
rs2151124871
|
|
NM_032444.4(SLX4):c.2882C>T (p.Pro961Leu)
|
rs886051978
|
|
NM_032444.4(SLX4):c.289G>A (p.Ala97Thr)
|
rs2040813930
|
|
NM_032444.4(SLX4):c.2909AAG[1] (p.Glu971del)
|
|
|
NM_032444.4(SLX4):c.2912_2913delinsGC (p.Glu971Gly)
|
rs2151124807
|
|
NM_032444.4(SLX4):c.2914G>A (p.Gly972Ser)
|
|
|
NM_032444.4(SLX4):c.2915G>A (p.Gly972Asp)
|
rs2151124801
|
|
NM_032444.4(SLX4):c.2927A>G (p.His976Arg)
|
rs141294497
|
|
NM_032444.4(SLX4):c.2944G>T (p.Asp982Tyr)
|
rs753733757
|
|
NM_032444.4(SLX4):c.2960T>C (p.Phe987Ser)
|
rs2040576468
|
|
NM_032444.4(SLX4):c.2972A>G (p.Gln991Arg)
|
|
|
NM_032444.4(SLX4):c.2978A>G (p.Glu993Gly)
|
rs759599459
|
|
NM_032444.4(SLX4):c.2993C>T (p.Ser998Phe)
|
|
|
NM_032444.4(SLX4):c.299C>A (p.Thr100Asn)
|
rs201163062
|
|
NM_032444.4(SLX4):c.3001A>G (p.Thr1001Ala)
|
rs769494671
|
|
NM_032444.4(SLX4):c.3002C>T (p.Thr1001Ile)
|
|
|
NM_032444.4(SLX4):c.3013G>A (p.Glu1005Lys)
|
rs746178364
|
|
NM_032444.4(SLX4):c.3027C>T (p.Gly1009=)
|
rs1278706933
|
|
NM_032444.4(SLX4):c.3034A>G (p.Arg1012Gly)
|
|
|
NM_032444.4(SLX4):c.3044G>A (p.Gly1015Glu)
|
rs2151124497
|
|
NM_032444.4(SLX4):c.3049G>A (p.Glu1017Lys)
|
|
|
NM_032444.4(SLX4):c.3052G>A (p.Val1018Ile)
|
rs948861318
|
|
NM_032444.4(SLX4):c.3059A>G (p.His1020Arg)
|
rs2151124446
|
|
NM_032444.4(SLX4):c.3062G>A (p.Arg1021His)
|
|
|
NM_032444.4(SLX4):c.3073T>C (p.Trp1025Arg)
|
|
|
NM_032444.4(SLX4):c.3079G>T (p.Ala1027Ser)
|
|
|
NM_032444.4(SLX4):c.3101G>T (p.Arg1034Leu)
|
|
|
NM_032444.4(SLX4):c.312A>C (p.Gln104His)
|
|
|
NM_032444.4(SLX4):c.3142T>A (p.Ser1048Thr)
|
|
|
NM_032444.4(SLX4):c.3157G>A (p.Gly1053Arg)
|
|
|
NM_032444.4(SLX4):c.3161C>T (p.Ser1054Leu)
|
|
|
NM_032444.4(SLX4):c.3179G>C (p.Arg1060Pro)
|
rs199994766
|
|
NM_032444.4(SLX4):c.317C>T (p.Pro106Leu)
|
rs2151139456
|
|
NM_032444.4(SLX4):c.3182C>T (p.Ser1061Phe)
|
rs2151124127
|
|
NM_032444.4(SLX4):c.3185G>A (p.Arg1062His)
|
|
|
NM_032444.4(SLX4):c.3191G>T (p.Gly1064Val)
|
|
|
NM_032444.4(SLX4):c.319G>A (p.Ala107Thr)
|
|
|
NM_032444.4(SLX4):c.3200A>G (p.Gln1067Arg)
|
rs2040570986
|
|
NM_032444.4(SLX4):c.3209C>G (p.Ser1070Cys)
|
rs2040570774
|
|
NM_032444.4(SLX4):c.3209C>T (p.Ser1070Phe)
|
rs2040570774
|
|
NM_032444.4(SLX4):c.320C>T (p.Ala107Val)
|
rs2040813512
|
|
NM_032444.4(SLX4):c.3214A>G (p.Thr1072Ala)
|
|
|
NM_032444.4(SLX4):c.3215C>T (p.Thr1072Ile)
|
|
|
NM_032444.4(SLX4):c.3224C>T (p.Ser1075Phe)
|
rs147558074
|
|
NM_032444.4(SLX4):c.3226C>A (p.Pro1076Thr)
|
rs2151124007
|
|
NM_032444.4(SLX4):c.3226C>G (p.Pro1076Ala)
|
rs2151124007
|
|
NM_032444.4(SLX4):c.3251G>C (p.Arg1084Thr)
|
|
|
NM_032444.4(SLX4):c.3254A>G (p.Asp1085Gly)
|
|
|
NM_032444.4(SLX4):c.3263T>C (p.Ile1088Thr)
|
|
|
NM_032444.4(SLX4):c.3268A>G (p.Thr1090Ala)
|
|
|
NM_032444.4(SLX4):c.3311G>A (p.Arg1104Gln)
|
|
|
NM_032444.4(SLX4):c.3313T>A (p.Ser1105Thr)
|
rs2151123849
|
|
NM_032444.4(SLX4):c.3326G>A (p.Cys1109Tyr)
|
|
|
NM_032444.4(SLX4):c.332C>T (p.Pro111Leu)
|
rs765630089
|
|
NM_032444.4(SLX4):c.3334A>C (p.Lys1112Gln)
|
rs570382990
|
|
NM_032444.4(SLX4):c.3334A>G (p.Lys1112Glu)
|
rs570382990
|
|
NM_032444.4(SLX4):c.3337G>C (p.Gly1113Arg)
|
rs772246820
|
|
NM_032444.4(SLX4):c.3338_3340del (p.Gly1113del)
|
rs2151123784
|
|
NM_032444.4(SLX4):c.3344T>C (p.Leu1115Pro)
|
rs2040568630
|
|
NM_032444.4(SLX4):c.3350T>A (p.Phe1117Tyr)
|
rs1596521648
|
|
NM_032444.4(SLX4):c.3353C>T (p.Pro1118Leu)
|
rs1567170196
|
|
NM_032444.4(SLX4):c.3361T>C (p.Ser1121Pro)
|
|
|
NM_032444.4(SLX4):c.3362C>T (p.Ser1121Phe)
|
rs1060501792
|
|
NM_032444.4(SLX4):c.3364C>G (p.Pro1122Ala)
|
|
|
NM_032444.4(SLX4):c.3370A>T (p.Ile1124Phe)
|
|
|
NM_032444.4(SLX4):c.3373G>A (p.Asp1125Asn)
|
|
|
NM_032444.4(SLX4):c.3380C>T (p.Thr1127Ile)
|
|
|
NM_032444.4(SLX4):c.3383A>C (p.Gln1128Pro)
|
|
|
NM_032444.4(SLX4):c.3398A>G (p.His1133Arg)
|
|
|
NM_032444.4(SLX4):c.3401C>T (p.Ser1134Leu)
|
rs1433489753
|
|
NM_032444.4(SLX4):c.3405C>A (p.Ser1135Arg)
|
|
|
NM_032444.4(SLX4):c.3416A>G (p.Gln1139Arg)
|
rs2151123634
|
|
NM_032444.4(SLX4):c.3424T>C (p.Ser1142Pro)
|
rs1400414235
|
|
NM_032444.4(SLX4):c.3425C>T (p.Ser1142Leu)
|
rs967412461
|
|
NM_032444.4(SLX4):c.3427T>G (p.Ser1143Ala)
|
rs1567170136
|
|
NM_032444.4(SLX4):c.3434T>C (p.Leu1145Pro)
|
rs759560028
|
|
NM_032444.4(SLX4):c.3438C>A (p.Asn1146Lys)
|
|
|
NM_032444.4(SLX4):c.343A>C (p.Ser115Arg)
|
rs959148678
|
|
NM_032444.4(SLX4):c.3441AGA[1] (p.Glu1148del)
|
|
|
NM_032444.4(SLX4):c.3442G>C (p.Glu1148Gln)
|
|
|
NM_032444.4(SLX4):c.3444A>C (p.Glu1148Asp)
|
rs771079071
|
|
NM_032444.4(SLX4):c.3444A>T (p.Glu1148Asp)
|
rs771079071
|
|
NM_032444.4(SLX4):c.3446A>G (p.Asp1149Gly)
|
rs2040566610
|
|
NM_032444.4(SLX4):c.3451G>A (p.Val1151Ile)
|
rs1060501796
|
|
NM_032444.4(SLX4):c.3475G>A (p.Glu1159Lys)
|
|
|
NM_032444.4(SLX4):c.3477G>C (p.Glu1159Asp)
|
rs1349173708
|
|
NM_032444.4(SLX4):c.3492A>C (p.Glu1164Asp)
|
rs1324916025
|
|
NM_032444.4(SLX4):c.3497C>A (p.Thr1166Asn)
|
|
|
NM_032444.4(SLX4):c.349G>A (p.Ala117Thr)
|
|
|
NM_032444.4(SLX4):c.3502A>G (p.Met1168Val)
|
|
|
NM_032444.4(SLX4):c.3506A>C (p.Lys1169Thr)
|
|
|
NM_032444.4(SLX4):c.3522T>A (p.Asp1174Glu)
|
rs2151123437
|
|
NM_032444.4(SLX4):c.352C>G (p.Pro118Ala)
|
rs1264184614
|
|
NM_032444.4(SLX4):c.3584T>C (p.Ile1195Thr)
|
rs757575928
|
|
NM_032444.4(SLX4):c.358A>G (p.Thr120Ala)
|
rs1003342051
|
|
NM_032444.4(SLX4):c.3599A>T (p.Asp1200Val)
|
rs1165195894
|
|
NM_032444.4(SLX4):c.3607C>A (p.Pro1203Thr)
|
rs745508761
|
|
NM_032444.4(SLX4):c.3607C>G (p.Pro1203Ala)
|
rs745508761
|
|
NM_032444.4(SLX4):c.360T>C (p.Thr120=)
|
rs886051982
|
|
NM_032444.4(SLX4):c.3623C>T (p.Pro1208Leu)
|
|
|
NM_032444.4(SLX4):c.3626G>A (p.Arg1209Lys)
|
|
|
NM_032444.4(SLX4):c.363_365del (p.Lys122del)
|
rs2151139354
|
|
NM_032444.4(SLX4):c.3658G>A (p.Gly1220Arg)
|
rs1160985971
|
|
NM_032444.4(SLX4):c.3661_3662delinsTT (p.Ala1221Leu)
|
|
|
NM_032444.4(SLX4):c.366G>C (p.Lys122Asn)
|
rs149626570
|
|
NM_032444.4(SLX4):c.3670G>C (p.Glu1224Gln)
|
rs2151123121
|
|
NM_032444.4(SLX4):c.3686T>C (p.Leu1229Ser)
|
|
|
NM_032444.4(SLX4):c.3700G>T (p.Ala1234Ser)
|
rs1555450127
|
|
NM_032444.4(SLX4):c.370A>G (p.Arg124Gly)
|
|
|
NM_032444.4(SLX4):c.3715T>C (p.Cys1239Arg)
|
rs2151122998
|
|
NM_032444.4(SLX4):c.3722G>C (p.Arg1241Pro)
|
|
|
NM_032444.4(SLX4):c.3724G>A (p.Glu1242Lys)
|
|
|
NM_032444.4(SLX4):c.3727A>G (p.Ser1243Gly)
|
|
|
NM_032444.4(SLX4):c.3728G>A (p.Ser1243Asn)
|
|
|
NM_032444.4(SLX4):c.3734C>T (p.Pro1245Leu)
|
|
|
NM_032444.4(SLX4):c.3739G>C (p.Glu1247Gln)
|
|
|
NM_032444.4(SLX4):c.3743C>T (p.Ala1248Val)
|
|
|
NM_032444.4(SLX4):c.374T>C (p.Val125Ala)
|
|
|
NM_032444.4(SLX4):c.3751A>G (p.Thr1251Ala)
|
rs1596521026
|
|
NM_032444.4(SLX4):c.3773C>G (p.Pro1258Arg)
|
|
|
NM_032444.4(SLX4):c.3784C>G (p.Leu1262Val)
|
|
|
NM_032444.4(SLX4):c.380A>T (p.Lys127Ile)
|
|
|
NM_032444.4(SLX4):c.3830G>A (p.Ser1277Asn)
|
rs1596520868
|
|
NM_032444.4(SLX4):c.3832C>T (p.Leu1278Phe)
|
rs2151122691
|
|
NM_032444.4(SLX4):c.3842G>A (p.Gly1281Glu)
|
rs766299864
|
|
NM_032444.4(SLX4):c.3848C>T (p.Ala1283Val)
|
rs140103960
|
|
NM_032444.4(SLX4):c.3850G>T (p.Val1284Leu)
|
rs373107728
|
|
NM_032444.4(SLX4):c.3856G>A (p.Ala1286Thr)
|
|
|
NM_032444.4(SLX4):c.3863C>G (p.Thr1288Ser)
|
rs1060501799
|
|
NM_032444.4(SLX4):c.3866A>G (p.Gln1289Arg)
|
|
|
NM_032444.4(SLX4):c.3868C>T (p.His1290Tyr)
|
rs112596894
|
|
NM_032444.4(SLX4):c.388G>A (p.Ala130Thr)
|
rs2040812493
|
|
NM_032444.4(SLX4):c.3890G>A (p.Gly1297Glu)
|
|
|
NM_032444.4(SLX4):c.38A>G (p.Tyr13Cys)
|
|
|
NM_032444.4(SLX4):c.3902G>T (p.Gly1301Val)
|
rs1307466531
|
|
NM_032444.4(SLX4):c.3903G>T (p.Gly1301=)
|
rs753464234
|
|
NM_032444.4(SLX4):c.3918G>T (p.Gln1306His)
|
|
|
NM_032444.4(SLX4):c.3919_3921del (p.Lys1307del)
|
rs775548839
|
|
NM_032444.4(SLX4):c.392G>A (p.Ser131Asn)
|
rs2040812388
|
|
NM_032444.4(SLX4):c.3934A>G (p.Arg1312Gly)
|
|
|
NM_032444.4(SLX4):c.3946C>A (p.Pro1316Thr)
|
|
|
NM_032444.4(SLX4):c.3948_3962del (p.Pro1317_Pro1321del)
|
rs1302525912
|
|
NM_032444.4(SLX4):c.3948_3962dup (p.Pro1317_Pro1321dup)
|
rs1302525912
|
|
NM_032444.4(SLX4):c.3952C>T (p.Pro1318Ser)
|
|
|
NM_032444.4(SLX4):c.3952_3963del (p.Pro1318_Pro1321del)
|
rs771773313
|
|
NM_032444.4(SLX4):c.3958A>T (p.Thr1320Ser)
|
rs1060501797
|
|
NM_032444.4(SLX4):c.3965C>T (p.Ser1322Phe)
|
|
|
NM_032444.4(SLX4):c.3970T>G (p.Cys1324Gly)
|
|
|
NM_032444.4(SLX4):c.3973C>G (p.Leu1325Val)
|
rs2151122362
|
|
NM_032444.4(SLX4):c.3973C>T (p.Leu1325Phe)
|
|
|
NM_032444.4(SLX4):c.4002C>A (p.Asp1334Glu)
|
rs201826765
|
|
NM_032444.4(SLX4):c.4003G>A (p.Gly1335Ser)
|
rs367562934
|
|
NM_032444.4(SLX4):c.4003G>T (p.Gly1335Cys)
|
rs367562934
|
|
NM_032444.4(SLX4):c.4004G>T (p.Gly1335Val)
|
|
|
NM_032444.4(SLX4):c.4013A>G (p.Gln1338Arg)
|
rs2040554954
|
|
NM_032444.4(SLX4):c.4016G>A (p.Gly1339Asp)
|
rs2040554845
|
|
NM_032444.4(SLX4):c.4036C>T (p.Pro1346Ser)
|
rs2040554159
|
|
NM_032444.4(SLX4):c.4044_4045insCAGCGGAGA (p.Pro1348_Gly1349insGlnArgArg)
|
rs2151122205
|
|
NM_032444.4(SLX4):c.4045G>A (p.Gly1349Arg)
|
|
|
NM_032444.4(SLX4):c.4049G>A (p.Gly1350Asp)
|
|
|
NM_032444.4(SLX4):c.4055C>G (p.Pro1352Arg)
|
|
|
NM_032444.4(SLX4):c.4057C>A (p.His1353Asn)
|
rs142205392
|
|
NM_032444.4(SLX4):c.4057C>T (p.His1353Tyr)
|
rs142205392
|
|
NM_032444.4(SLX4):c.4067C>A (p.Pro1356Gln)
|
rs764254888
|
|
NM_032444.4(SLX4):c.4075C>T (p.Pro1359Ser)
|
|
|
NM_032444.4(SLX4):c.4114C>T (p.Arg1372Trp)
|
|
|
NM_032444.4(SLX4):c.4129T>G (p.Ser1377Ala)
|
|
|
NM_032444.4(SLX4):c.4130C>G (p.Ser1377Trp)
|
rs770241338
|
|
NM_032444.4(SLX4):c.4135C>G (p.Pro1379Ala)
|
|
|
NM_032444.4(SLX4):c.4160C>A (p.Thr1387Asn)
|
|
|
NM_032444.4(SLX4):c.4162C>G (p.Pro1388Ala)
|
rs1457147753
|
|
NM_032444.4(SLX4):c.416G>C (p.Gly139Ala)
|
|
|
NM_032444.4(SLX4):c.416G>T (p.Gly139Val)
|
|
|
NM_032444.4(SLX4):c.4171G>A (p.Glu1391Lys)
|
|
|
NM_032444.4(SLX4):c.4175TGG[1] (p.Val1393del)
|
rs756477852
|
|
NM_032444.4(SLX4):c.4177G>C (p.Val1393Leu)
|
|
|
NM_032444.4(SLX4):c.4191C>A (p.Asp1397Glu)
|
|
|
NM_032444.4(SLX4):c.4195G>T (p.Asp1399Tyr)
|
|
|
NM_032444.4(SLX4):c.4197C>G (p.Asp1399Glu)
|
rs146079010
|
|
NM_032444.4(SLX4):c.420G>T (p.Glu140Asp)
|
rs753015235
|
|
NM_032444.4(SLX4):c.4219C>T (p.His1407Tyr)
|
|
|
NM_032444.4(SLX4):c.421G>C (p.Gly141Arg)
|
rs137976282
|
|
NM_032444.4(SLX4):c.421G>T (p.Gly141Trp)
|
rs137976282
|
|
NM_032444.4(SLX4):c.4229A>G (p.Asn1410Ser)
|
rs1596520203
|
|
NM_032444.4(SLX4):c.4230C>G (p.Asn1410Lys)
|
|
|
NM_032444.4(SLX4):c.4245_4246delinsAA (p.Asp1416Asn)
|
rs2040548229
|
|
NM_032444.4(SLX4):c.4250G>A (p.Ser1417Asn)
|
rs1158558800
|
|
NM_032444.4(SLX4):c.4255C>T (p.Pro1419Ser)
|
|
|
NM_032444.4(SLX4):c.4258C>G (p.Pro1420Ala)
|
rs2151121708
|
|
NM_032444.4(SLX4):c.4258C>T (p.Pro1420Ser)
|
|
|
NM_032444.4(SLX4):c.4264C>G (p.Pro1422Ala)
|
|
|
NM_032444.4(SLX4):c.4265C>T (p.Pro1422Leu)
|
|
|
NM_032444.4(SLX4):c.426T>A (p.Gly142=)
|
rs377500336
|
|
NM_032444.4(SLX4):c.4270GAC[1] (p.Asp1425del)
|
rs755109579
|
|
NM_032444.4(SLX4):c.427G>A (p.Val143Met)
|
|
|
NM_032444.4(SLX4):c.4280G>C (p.Cys1427Ser)
|
|
|
NM_032444.4(SLX4):c.4285C>T (p.His1429Tyr)
|
|
|
NM_032444.4(SLX4):c.4288A>G (p.Met1430Val)
|
|
|
NM_032444.4(SLX4):c.4295C>T (p.Pro1432Leu)
|
|
|
NM_032444.4(SLX4):c.42G>C (p.Leu14Phe)
|
rs1332832206
|
|
NM_032444.4(SLX4):c.4306A>G (p.Ile1436Val)
|
rs2151121602
|
|
NM_032444.4(SLX4):c.4333C>G (p.Arg1445Gly)
|
rs777967898
|
|
NM_032444.4(SLX4):c.4336A>G (p.Thr1446Ala)
|
rs2040546349
|
|
NM_032444.4(SLX4):c.4337C>G (p.Thr1446Ser)
|
|
|
NM_032444.4(SLX4):c.4355G>A (p.Ser1452Asn)
|
rs765104618
|
|
NM_032444.4(SLX4):c.4371G>T (p.Arg1457Ser)
|
|
|
NM_032444.4(SLX4):c.4373T>C (p.Met1458Thr)
|
|
|
NM_032444.4(SLX4):c.4374G>C (p.Met1458Ile)
|
|
|
NM_032444.4(SLX4):c.4377C>G (p.Asn1459Lys)
|
rs773941480
|
|
NM_032444.4(SLX4):c.4378G>A (p.Glu1460Lys)
|
rs749082427
|
|
NM_032444.4(SLX4):c.437C>G (p.Ser146Cys)
|
|
|
NM_032444.4(SLX4):c.4382C>T (p.Ala1461Val)
|
|
|
NM_032444.4(SLX4):c.4382CCG[1] (p.Ala1462del)
|
|
|
NM_032444.4(SLX4):c.4384G>A (p.Ala1462Thr)
|
rs138484365
|
|
NM_032444.4(SLX4):c.4394G>C (p.Arg1465Pro)
|
|
|
NM_032444.4(SLX4):c.4394G>T (p.Arg1465Leu)
|
rs757128699
|
|
NM_032444.4(SLX4):c.4395_4406del (p.Asp1466_Ser1469del)
|
rs2151121320
|
|
NM_032444.4(SLX4):c.4400G>A (p.Cys1467Tyr)
|
|
|
NM_032444.4(SLX4):c.4400G>C (p.Cys1467Ser)
|
|
|
NM_032444.4(SLX4):c.440C>T (p.Ala147Val)
|
|
|
NM_032444.4(SLX4):c.4411G>A (p.Gly1471Arg)
|
|
|
NM_032444.4(SLX4):c.4420G>A (p.Asp1474Asn)
|
|
|
NM_032444.4(SLX4):c.4429C>G (p.Pro1477Ala)
|
|
|
NM_032444.4(SLX4):c.442C>T (p.Pro148Ser)
|
|
|
NM_032444.4(SLX4):c.4443C>G (p.Ser1481Arg)
|
rs1307537720
|
|
NM_032444.4(SLX4):c.4451C>T (p.Thr1484Ile)
|
|
|
NM_032444.4(SLX4):c.4457G>A (p.Arg1486Lys)
|
|
|
NM_032444.4(SLX4):c.4464G>C (p.Leu1488Phe)
|
rs2040543369
|
|
NM_032444.4(SLX4):c.4468G>A (p.Glu1490Lys)
|
rs1378182049
|
|
NM_032444.4(SLX4):c.4481_4525del (p.Gly1494_Ser1508del)
|
rs750613465
|
|
NM_032444.4(SLX4):c.4485G>A (p.Ala1495=)
|
rs140872903
|
|
NM_032444.4(SLX4):c.4505G>A (p.Arg1502Lys)
|
|
|
NM_032444.4(SLX4):c.4508C>G (p.Pro1503Arg)
|
rs370637700
|
|
NM_032444.4(SLX4):c.4510A>C (p.Ser1504Arg)
|
|
|
NM_032444.4(SLX4):c.4511G>C (p.Ser1504Thr)
|
rs1485376668
|
|
NM_032444.4(SLX4):c.4523C>G (p.Ser1508Trp)
|
|
|
NM_032444.4(SLX4):c.4523C>T (p.Ser1508Leu)
|
rs112694849
|
|
NM_032444.4(SLX4):c.4534G>A (p.Asp1512Asn)
|
|
|
NM_032444.4(SLX4):c.4534G>C (p.Asp1512His)
|
|
|
NM_032444.4(SLX4):c.4542G>T (p.Trp1514Cys)
|
rs1198880078
|
|
NM_032444.4(SLX4):c.4546G>C (p.Gly1516Arg)
|
rs775915651
|
|
NM_032444.4(SLX4):c.4556A>C (p.Gln1519Pro)
|
rs561446698
|
|
NM_032444.4(SLX4):c.455T>C (p.Val152Ala)
|
rs2151139133
|
|
NM_032444.4(SLX4):c.4576C>T (p.Pro1526Ser)
|
|
|
NM_032444.4(SLX4):c.4580C>A (p.Pro1527Gln)
|
rs149362820
|
|
NM_032444.4(SLX4):c.4586A>G (p.Gln1529Arg)
|
rs2151120875
|
|
NM_032444.4(SLX4):c.4590G>T (p.Met1530Ile)
|
|
|
NM_032444.4(SLX4):c.4600G>T (p.Gly1534Cys)
|
rs78770603
|
|
NM_032444.4(SLX4):c.4601G>A (p.Gly1534Asp)
|
rs753047651
|
|
NM_032444.4(SLX4):c.4601G>T (p.Gly1534Val)
|
rs753047651
|
|
NM_032444.4(SLX4):c.4615C>T (p.Pro1539Ser)
|
|
|
NM_032444.4(SLX4):c.4620A>C (p.Glu1540Asp)
|
|
|
NM_032444.4(SLX4):c.4622G>A (p.Gly1541Glu)
|
|
|
NM_032444.4(SLX4):c.4629G>C (p.Glu1543Asp)
|
|
|
NM_032444.4(SLX4):c.4629G>T (p.Glu1543Asp)
|
rs1406412705
|
|
NM_032444.4(SLX4):c.4633C>T (p.Pro1545Ser)
|
rs2040539889
|
|
NM_032444.4(SLX4):c.4636A>G (p.Lys1546Glu)
|
|
|
NM_032444.4(SLX4):c.4645A>T (p.Asn1549Tyr)
|
rs2040490377
|
|
NM_032444.4(SLX4):c.4650GAA[2] (p.Lys1552del)
|
rs760517738
|
|
NM_032444.4(SLX4):c.4652A>G (p.Lys1551Arg)
|
|
|
NM_032444.4(SLX4):c.4678A>G (p.Ile1560Val)
|
|
|
NM_032444.4(SLX4):c.467C>T (p.Thr156Ile)
|
rs144614070
|
|
NM_032444.4(SLX4):c.4697A>G (p.Tyr1566Cys)
|
|
|
NM_032444.4(SLX4):c.4703T>C (p.Ile1568Thr)
|
rs377185661
|
|
NM_032444.4(SLX4):c.4706T>C (p.Met1569Thr)
|
|
|
NM_032444.4(SLX4):c.4717G>T (p.Val1573Leu)
|
|
|
NM_032444.4(SLX4):c.4720C>G (p.Leu1574Val)
|
rs2040488671
|
|
NM_032444.4(SLX4):c.4721_4722delinsCC (p.Leu1574Pro)
|
rs2151118023
|
|
NM_032444.4(SLX4):c.4729G>C (p.Glu1577Gln)
|
|
|
NM_032444.4(SLX4):c.4737T>A (p.Asp1579Glu)
|
rs1466193115
|
|
NM_032444.4(SLX4):c.4739+6C>A
|
rs770758859
|
|
NM_032444.4(SLX4):c.4742T>C (p.Phe1581Ser)
|
|
|
NM_032444.4(SLX4):c.4760C>G (p.Pro1587Arg)
|
rs2040468443
|
|
NM_032444.4(SLX4):c.476A>C (p.Asn159Thr)
|
|
|
NM_032444.4(SLX4):c.4774G>T (p.Val1592Phe)
|
|
|
NM_032444.4(SLX4):c.4787A>C (p.Lys1596Thr)
|
rs2151117092
|
|
NM_032444.4(SLX4):c.4791G>C (p.Glu1597Asp)
|
|
|
NM_032444.4(SLX4):c.4792A>G (p.Ile1598Val)
|
|
|
NM_032444.4(SLX4):c.4799A>G (p.Gln1600Arg)
|
rs2151117076
|
|
NM_032444.4(SLX4):c.4804A>C (p.Thr1602Pro)
|
rs756198942
|
|
NM_032444.4(SLX4):c.4804A>G (p.Thr1602Ala)
|
|
|
NM_032444.4(SLX4):c.4811A>C (p.Gln1604Pro)
|
rs2040467275
|
|
NM_032444.4(SLX4):c.4831G>A (p.Glu1611Lys)
|
|
|
NM_032444.4(SLX4):c.4832A>G (p.Glu1611Gly)
|
|
|
NM_032444.4(SLX4):c.4836C>A (p.Asp1612Glu)
|
rs140844106
|
|
NM_032444.4(SLX4):c.4842C>G (p.Ser1614Arg)
|
rs2151116971
|
|
NM_032444.4(SLX4):c.487G>A (p.Gly163Ser)
|
|
|
NM_032444.4(SLX4):c.4883C>A (p.Thr1628Asn)
|
rs199573277
|
|
NM_032444.4(SLX4):c.4883C>T (p.Thr1628Ile)
|
rs199573277
|
|
NM_032444.4(SLX4):c.4906C>A (p.Pro1636Thr)
|
|
|
NM_032444.4(SLX4):c.4916C>G (p.Ala1639Gly)
|
|
|
NM_032444.4(SLX4):c.4916C>T (p.Ala1639Val)
|
|
|
NM_032444.4(SLX4):c.4918G>C (p.Gly1640Arg)
|
rs368102037
|
|
NM_032444.4(SLX4):c.4921dup (p.Val1641fs)
|
rs770425994
|
|
NM_032444.4(SLX4):c.4931A>G (p.Gln1644Arg)
|
rs2151116778
|
|
NM_032444.4(SLX4):c.4936G>A (p.Glu1646Lys)
|
|
|
NM_032444.4(SLX4):c.4936G>C (p.Glu1646Gln)
|
|
|
NM_032444.4(SLX4):c.4943C>A (p.Thr1648Asn)
|
|
|
NM_032444.4(SLX4):c.4946C>T (p.Thr1649Ile)
|
rs2040464427
|
|
NM_032444.4(SLX4):c.4948G>A (p.Gly1650Arg)
|
rs770344772
|
|
NM_032444.4(SLX4):c.4949G>A (p.Gly1650Glu)
|
rs1567166441
|
|
NM_032444.4(SLX4):c.4960C>T (p.His1654Tyr)
|
rs2151116711
|
|
NM_032444.4(SLX4):c.4973G>A (p.Gly1658Glu)
|
|
|
NM_032444.4(SLX4):c.4975C>T (p.Pro1659Ser)
|
|
|
NM_032444.4(SLX4):c.4978_4980del (p.Ala1660del)
|
|
|
NM_032444.4(SLX4):c.4979C>T (p.Ala1660Val)
|
|
|
NM_032444.4(SLX4):c.497A>C (p.Gln166Pro)
|
rs2151139059
|
|
NM_032444.4(SLX4):c.4990G>A (p.Gly1664Ser)
|
|
|
NM_032444.4(SLX4):c.4997G>A (p.Arg1666Gln)
|
|
|
NM_032444.4(SLX4):c.4999C>A (p.His1667Asn)
|
rs746120772
|
|
NM_032444.4(SLX4):c.5000A>C (p.His1667Pro)
|
|
|
NM_032444.4(SLX4):c.5027C>T (p.Thr1676Ile)
|
rs377544881
|
|
NM_032444.4(SLX4):c.5030C>A (p.Pro1677His)
|
rs2040462734
|
|
NM_032444.4(SLX4):c.5039G>A (p.Arg1680Lys)
|
|
|
NM_032444.4(SLX4):c.5040G>C (p.Arg1680Ser)
|
rs199592185
|
|
NM_032444.4(SLX4):c.5040G>T (p.Arg1680Ser)
|
rs199592185
|
|
NM_032444.4(SLX4):c.5044C>T (p.Pro1682Ser)
|
|
|
NM_032444.4(SLX4):c.5057C>T (p.Ala1686Val)
|
|
|
NM_032444.4(SLX4):c.5063C>T (p.Pro1688Leu)
|
rs2151116555
|
|
NM_032444.4(SLX4):c.5066G>A (p.Gly1689Asp)
|
rs2151116548
|
|
NM_032444.4(SLX4):c.506C>G (p.Ser169Trp)
|
|
|
NM_032444.4(SLX4):c.506C>T (p.Ser169Leu)
|
rs776018346
|
|
NM_032444.4(SLX4):c.5072A>T (p.Asn1691Ile)
|
rs551385115
|
|
NM_032444.4(SLX4):c.5080G>A (p.Ala1694Thr)
|
rs1218491919
|
|
NM_032444.4(SLX4):c.5080G>T (p.Ala1694Ser)
|
rs1218491919
|
|
NM_032444.4(SLX4):c.5096C>G (p.Ser1699Cys)
|
rs184699331
|
|
NM_032444.4(SLX4):c.5101_5103del (p.Glu1701del)
|
|
|
NM_032444.4(SLX4):c.5102A>T (p.Glu1701Val)
|
rs2040461062
|
|
NM_032444.4(SLX4):c.5107G>A (p.Val1703Met)
|
|
|
NM_032444.4(SLX4):c.5107G>T (p.Val1703Leu)
|
|
|
NM_032444.4(SLX4):c.5108T>G (p.Val1703Gly)
|
rs2040460900
|
|
NM_032444.4(SLX4):c.5110G>T (p.Ala1704Ser)
|
|
|
NM_032444.4(SLX4):c.5129G>A (p.Ser1710Asn)
|
rs2151116448
|
|
NM_032444.4(SLX4):c.5143A>G (p.Ser1715Gly)
|
rs2151116429
|
|
NM_032444.4(SLX4):c.5150A>C (p.Gln1717Pro)
|
rs766089444
|
|
NM_032444.4(SLX4):c.5150A>G (p.Gln1717Arg)
|
rs766089444
|
|
NM_032444.4(SLX4):c.5153+5C>A
|
|
|
NM_032444.4(SLX4):c.5153+6C>A
|
rs754209356
|
|
NM_032444.4(SLX4):c.5153+6C>T
|
rs754209356
|
|
NM_032444.4(SLX4):c.5154-9T>A
|
rs1372404016
|
|
NM_032444.4(SLX4):c.5154TTC[1] (p.Ser1721del)
|
rs770121119
|
|
NM_032444.4(SLX4):c.5171T>C (p.Phe1724Ser)
|
rs2151116029
|
|
NM_032444.4(SLX4):c.5185G>C (p.Glu1729Gln)
|
rs1376464922
|
|
NM_032444.4(SLX4):c.5186A>C (p.Glu1729Ala)
|
|
|
NM_032444.4(SLX4):c.5189C>T (p.Ser1730Phe)
|
rs376960842
|
|
NM_032444.4(SLX4):c.5192C>T (p.Ala1731Val)
|
|
|
NM_032444.4(SLX4):c.5195G>C (p.Gly1732Ala)
|
|
|
NM_032444.4(SLX4):c.5197G>A (p.Glu1733Lys)
|
|
|
NM_032444.4(SLX4):c.5204A>C (p.Glu1735Ala)
|
|
|
NM_032444.4(SLX4):c.5209G>A (p.Glu1737Lys)
|
|
|
NM_032444.4(SLX4):c.5211G>C (p.Glu1737Asp)
|
rs1365924781
|
|
NM_032444.4(SLX4):c.5215G>A (p.Glu1739Lys)
|
rs2040453082
|
|
NM_032444.4(SLX4):c.5239G>A (p.Val1747Met)
|
|
|
NM_032444.4(SLX4):c.5239G>T (p.Val1747Leu)
|
|
|
NM_032444.4(SLX4):c.5246C>T (p.Ala1749Val)
|
|
|
NM_032444.4(SLX4):c.5248G>A (p.Ala1750Thr)
|
|
|
NM_032444.4(SLX4):c.5248_5249delinsTT (p.Ala1750Leu)
|
rs878855163
|
|
NM_032444.4(SLX4):c.5257G>C (p.Asp1753His)
|
rs981311587
|
|
NM_032444.4(SLX4):c.5264C>G (p.Ala1755Gly)
|
|
|
NM_032444.4(SLX4):c.528A>C (p.Lys176Asn)
|
rs778569160
|
|
NM_032444.4(SLX4):c.5300A>G (p.Tyr1767Cys)
|
rs2040450814
|
|
NM_032444.4(SLX4):c.5305_5322dup (p.Lys1769_Gln1774dup)
|
rs2151115686
|
|
NM_032444.4(SLX4):c.5308G>A (p.Val1770Met)
|
|
|
NM_032444.4(SLX4):c.5309T>A (p.Val1770Glu)
|
|
|
NM_032444.4(SLX4):c.5312T>C (p.Leu1771Pro)
|
|
|
NM_032444.4(SLX4):c.5325C>G (p.Pro1775=)
|
rs1596514559
|
|
NM_032444.4(SLX4):c.5327T>G (p.Phe1776Cys)
|
rs747442815
|
|
NM_032444.4(SLX4):c.5328T>G (p.Phe1776Leu)
|
rs2040450297
|
|
NM_032444.4(SLX4):c.5333T>G (p.Leu1778Arg)
|
|
|
NM_032444.4(SLX4):c.5342_5350del (p.Leu1781_Glu1784delinsGln)
|
rs2151115638
|
|
NM_032444.4(SLX4):c.535+6T>G
|
|
|
NM_032444.4(SLX4):c.5359C>G (p.Gln1787Glu)
|
rs1259909923
|
|
NM_032444.4(SLX4):c.5359C>T (p.Gln1787Ter)
|
|
|
NM_032444.4(SLX4):c.5368C>A (p.Leu1790Ile)
|
rs2040449660
|
|
NM_032444.4(SLX4):c.5381C>T (p.Ser1794Leu)
|
|
|
NM_032444.4(SLX4):c.5418C>G (p.Ile1806Met)
|
rs886051976
|
|
NM_032444.4(SLX4):c.5434G>A (p.Ala1812Thr)
|
|
|
NM_032444.4(SLX4):c.5440C>G (p.Arg1814Gly)
|
|
|
NM_032444.4(SLX4):c.5440C>T (p.Arg1814Cys)
|
rs767720336
|
|
NM_032444.4(SLX4):c.5444G>C (p.Arg1815Thr)
|
rs375885941
|
|
NM_032444.4(SLX4):c.5446G>A (p.Glu1816Lys)
|
|
|
NM_032444.4(SLX4):c.5468G>A (p.Arg1823Gln)
|
|
|
NM_032444.4(SLX4):c.5470C>T (p.Gln1824Ter)
|
rs1037474114
|
|
NM_032444.4(SLX4):c.5480G>T (p.Gly1827Val)
|
rs2151115403
|
|
NM_032444.4(SLX4):c.5480del (p.Gly1827fs)
|
rs780024167
|
|
NM_032444.4(SLX4):c.5482AAG[2] (p.Lys1830del)
|
rs758485573
|
|
NM_032444.4(SLX4):c.552C>T (p.Ser184=)
|
|
|
NM_032444.4(SLX4):c.553G>T (p.Asp185Tyr)
|
|
|
NM_032444.4(SLX4):c.55C>T (p.His19Tyr)
|
|
|
NM_032444.4(SLX4):c.561G>T (p.Gln187His)
|
rs778738306
|
|
NM_032444.4(SLX4):c.565C>G (p.Pro189Ala)
|
rs757069991
|
|
NM_032444.4(SLX4):c.565C>T (p.Pro189Ser)
|
|
|
NM_032444.4(SLX4):c.568C>T (p.Pro190Ser)
|
rs753758188
|
|
NM_032444.4(SLX4):c.580A>G (p.Thr194Ala)
|
|
|
NM_032444.4(SLX4):c.589G>A (p.Val197Met)
|
rs1555452306
|
|
NM_032444.4(SLX4):c.595A>C (p.Ser199Arg)
|
rs770098753
|
|
NM_032444.4(SLX4):c.607C>A (p.Pro203Thr)
|
rs2151137984
|
|
NM_032444.4(SLX4):c.610C>G (p.Arg204Gly)
|
rs79842542
|
|
NM_032444.4(SLX4):c.616G>A (p.Ala206Thr)
|
|
|
NM_032444.4(SLX4):c.629T>C (p.Leu210Pro)
|
rs957576825
|
|
NM_032444.4(SLX4):c.632A>G (p.Gln211Arg)
|
rs2151137938
|
|
NM_032444.4(SLX4):c.645G>C (p.Gln215His)
|
rs1449991903
|
|
NM_032444.4(SLX4):c.660C>A (p.Asp220Glu)
|
rs767206967
|
|
NM_032444.4(SLX4):c.661C>T (p.Pro221Ser)
|
rs2040785784
|
|
NM_032444.4(SLX4):c.676C>T (p.His226Tyr)
|
rs761229867
|
|
NM_032444.4(SLX4):c.678C>A (p.His226Gln)
|
rs28516461
|
|
NM_032444.4(SLX4):c.698T>C (p.Leu233Pro)
|
rs2151137818
|
|
NM_032444.4(SLX4):c.703G>A (p.Ala235Thr)
|
rs754917250
|
|
NM_032444.4(SLX4):c.704C>G (p.Ala235Gly)
|
rs2040784637
|
|
NM_032444.4(SLX4):c.707C>T (p.Ala236Val)
|
rs200803578
|
|
NM_032444.4(SLX4):c.718A>C (p.Asn240His)
|
|
|
NM_032444.4(SLX4):c.738A>G (p.Gln246=)
|
rs905819290
|
|
NM_032444.4(SLX4):c.742G>C (p.Glu248Gln)
|
|
|
NM_032444.4(SLX4):c.749T>C (p.Met250Thr)
|
|
|
NM_032444.4(SLX4):c.760+5G>A
|
rs1555452262
|
|
NM_032444.4(SLX4):c.761T>A (p.Val254Glu)
|
rs776582706
|
|
NM_032444.4(SLX4):c.764A>G (p.Tyr255Cys)
|
|
|
NM_032444.4(SLX4):c.786A>G (p.Pro262=)
|
rs2040736285
|
|
NM_032444.4(SLX4):c.788A>C (p.Glu263Ala)
|
rs2151135057
|
|
NM_032444.4(SLX4):c.792C>G (p.Ser264Arg)
|
|
|
NM_032444.4(SLX4):c.793G>A (p.Asp265Asn)
|
|
|
NM_032444.4(SLX4):c.793G>C (p.Asp265His)
|
|
|
NM_032444.4(SLX4):c.805G>T (p.Ala269Ser)
|
|
|
NM_032444.4(SLX4):c.80A>T (p.Asp27Val)
|
rs1567178445
|
|
NM_032444.4(SLX4):c.822G>C (p.Gln274His)
|
rs1367038373
|
|
NM_032444.4(SLX4):c.853GAT[1] (p.Asp286del)
|
rs761185763
|
|
NM_032444.4(SLX4):c.864G>A (p.Leu288=)
|
|
|
NM_032444.4(SLX4):c.867G>C (p.Glu289Asp)
|
|
|
NM_032444.4(SLX4):c.86G>C (p.Arg29Pro)
|
|
|
NM_032444.4(SLX4):c.874G>C (p.Gly292Arg)
|
rs780402573
|
|
NM_032444.4(SLX4):c.883T>C (p.Phe295Leu)
|
|
|
NM_032444.4(SLX4):c.8T>G (p.Leu3Arg)
|
|
|
NM_032444.4(SLX4):c.908T>C (p.Leu303Pro)
|
|
|
NM_032444.4(SLX4):c.943G>A (p.Val315Met)
|
|
|
NM_032444.4(SLX4):c.950+3G>C
|
|
|
NM_032444.4(SLX4):c.951-3C>G
|
|
|
NM_032444.4(SLX4):c.951G>A (p.Arg317=)
|
rs1338514538
|
|
NM_032444.4(SLX4):c.956T>C (p.Leu319Ser)
|
rs2151134190
|
|
NM_032444.4(SLX4):c.985_987del (p.Ser329del)
|
rs1289726066
|
|
NM_032444.4(SLX4):c.988G>A (p.Val330Met)
|
rs2040723281
|
|
NM_032444.4(SLX4):c.99C>G (p.Asp33Glu)
|
|
|
NM_032609.3(COX4I2):c.28G>A (p.Val10Met)
|
|
|
NM_032609.3(COX4I2):c.333C>G (p.Phe111Leu)
|
|
|
NM_032609.3(COX4I2):c.83-8_83-7del
|
rs528430338
|
|
NM_033022.3(RPS24):c.-142A>G
|
rs886047294
|
|
NM_033022.3(RPS24):c.-47T>G
|
rs371852053
|
|
NM_033022.4(RPS24):c.149C>G (p.Thr50Ser)
|
|
|
NM_033022.4(RPS24):c.155C>A (p.Pro52Gln)
|
|
|
NM_033022.4(RPS24):c.155C>T (p.Pro52Leu)
|
|
|
NM_033022.4(RPS24):c.158A>T (p.Asp53Val)
|
|
|
NM_033022.4(RPS24):c.160G>A (p.Val54Ile)
|
|
|
NM_033022.4(RPS24):c.172T>C (p.Phe58Leu)
|
|
|
NM_033022.4(RPS24):c.20T>G (p.Ile7Ser)
|
rs1554841961
|
|
NM_033022.4(RPS24):c.240T>G (p.Asp80Glu)
|
|
|
NM_033022.4(RPS24):c.271C>G (p.Leu91Val)
|
|
|
NM_033022.4(RPS24):c.275C>A (p.Ala92Glu)
|
|
|
NM_033022.4(RPS24):c.278G>A (p.Arg93Lys)
|
|
|
NM_033022.4(RPS24):c.280-11_280-10del
|
rs756756010
|
|
NM_033022.4(RPS24):c.280C>T (p.His94Tyr)
|
|
|
NM_033022.4(RPS24):c.297G>C (p.Lys99Asn)
|
|
|
NM_033022.4(RPS24):c.320G>A (p.Arg107Gln)
|
|
|
NM_033022.4(RPS24):c.348A>G (p.Lys116=)
|
|
|
NM_033022.4(RPS24):c.352_354del (p.Arg118del)
|
rs1847891159
|
|
NM_033022.4(RPS24):c.390+4T>C
|
|
|
NM_033022.4(RPS24):c.3G>A (p.Met1Ile)
|
rs2131972918
|
|
NM_033022.4(RPS24):c.4-3C>T
|
|
|
NM_033022.4(RPS24):c.4-7T>C
|
rs1847840052
|
|
NM_033022.4(RPS24):c.47G>C (p.Arg16Pro)
|
rs199524789
|
|
NM_033022.4(RPS24):c.47G>T (p.Arg16Leu)
|
|
|
NM_033022.4(RPS24):c.82C>T (p.Leu28Phe)
|
rs775383590
|
|
NM_033022.4(RPS24):c.86_103del (p.His29_Val35delinsLeu)
|
|
|
NM_033022.4(RPS24):c.97G>T (p.Ala33Ser)
|
|
|
NM_058216.3(RAD51C):c.-19G>T
|
rs375889604
|
|
NM_058216.3(RAD51C):c.-3G>A
|
rs864622151
|
|
NM_058216.3(RAD51C):c.1000_1002del (p.Glu334del)
|
|
|
NM_058216.3(RAD51C):c.1003T>C (p.Cys335Arg)
|
|
|
NM_058216.3(RAD51C):c.1004G>A (p.Cys335Tyr)
|
rs786203846
|
|
NM_058216.3(RAD51C):c.1007C>T (p.Thr336Ile)
|
rs2144045960
|
|
NM_058216.3(RAD51C):c.1009G>A (p.Val337Ile)
|
rs2049473367
|
|
NM_058216.3(RAD51C):c.1009G>C (p.Val337Leu)
|
rs2049473367
|
|
NM_058216.3(RAD51C):c.1009G>T (p.Val337Leu)
|
rs2049473367
|
|
NM_058216.3(RAD51C):c.100A>C (p.Thr34Pro)
|
rs2143678482
|
|
NM_058216.3(RAD51C):c.1013_1024del (p.Leu338_Lys342delinsGln)
|
rs780080251
|
|
NM_058216.3(RAD51C):c.101C>T (p.Thr34Ile)
|
rs762230288
|
|
NM_058216.3(RAD51C):c.1021A>G (p.Ile341Val)
|
rs2049473872
|
|
NM_058216.3(RAD51C):c.1026+4A>T
|
|
|
NM_058216.3(RAD51C):c.1026+5G>C
|
|
|
NM_058216.3(RAD51C):c.1027-10T>A
|
rs2049558368
|
|
NM_058216.3(RAD51C):c.1027-1G>A
|
rs1567818502
|
|
NM_058216.3(RAD51C):c.1027-1G>T
|
rs1567818502
|
|
NM_058216.3(RAD51C):c.1027-2A>G
|
rs587780835
|
|
NM_058216.3(RAD51C):c.1027-3C>G
|
rs587782459
|
|
NM_058216.3(RAD51C):c.1027C>T (p.Pro343Ser)
|
rs786201890
|
|
NM_058216.3(RAD51C):c.1028C>G (p.Pro343Arg)
|
rs2049559202
|
|
NM_058216.3(RAD51C):c.1032G>C (p.Gln344His)
|
rs876658609
|
|
NM_058216.3(RAD51C):c.1037T>C (p.Phe346Ser)
|
rs1555605530
|
|
NM_058216.3(RAD51C):c.1038T>A (p.Phe346Leu)
|
rs2144060353
|
|
NM_058216.3(RAD51C):c.103G>T (p.Ala35Ser)
|
rs1432320770
|
|
NM_058216.3(RAD51C):c.1040G>T (p.Arg347Ile)
|
|
|
NM_058216.3(RAD51C):c.1042G>C (p.Asp348His)
|
|
|
NM_058216.3(RAD51C):c.1042G>T (p.Asp348Tyr)
|
rs1555605533
|
|
NM_058216.3(RAD51C):c.1044T>G (p.Asp348Glu)
|
rs2144060550
|
|
NM_058216.3(RAD51C):c.1045A>C (p.Thr349Pro)
|
|
|
NM_058216.3(RAD51C):c.1045A>G (p.Thr349Ala)
|
rs1567818564
|
|
NM_058216.3(RAD51C):c.1048G>A (p.Val350Ile)
|
rs1473651696
|
|
NM_058216.3(RAD51C):c.1048G>C (p.Val350Leu)
|
|
|
NM_058216.3(RAD51C):c.1048G>T (p.Val350Phe)
|
rs1473651696
|
|
NM_058216.3(RAD51C):c.1048GTT[3] (p.Val351dup)
|
rs2049560991
|
|
NM_058216.3(RAD51C):c.104C>G (p.Ala35Gly)
|
rs1555592011
|
|
NM_058216.3(RAD51C):c.104C>T (p.Ala35Val)
|
rs1555592011
|
|
NM_058216.3(RAD51C):c.1054A>T (p.Thr352Ser)
|
|
|
NM_058216.3(RAD51C):c.1058C>A (p.Ser353Tyr)
|
|
|
NM_058216.3(RAD51C):c.1060G>A (p.Ala354Thr)
|
rs1060502590
|
|
NM_058216.3(RAD51C):c.1063T>C (p.Cys355Arg)
|
rs587782426
|
|
NM_058216.3(RAD51C):c.1067C>T (p.Ser356Leu)
|
rs773843495
|
|
NM_058216.3(RAD51C):c.1070T>G (p.Leu357Trp)
|
|
|
NM_058216.3(RAD51C):c.1072C>A (p.Gln358Lys)
|
|
|
NM_058216.3(RAD51C):c.1072C>G (p.Gln358Glu)
|
rs2049563238
|
|
NM_058216.3(RAD51C):c.1073A>G (p.Gln358Arg)
|
rs1567818677
|
|
NM_058216.3(RAD51C):c.1073A>T (p.Gln358Leu)
|
rs1567818677
|
|
NM_058216.3(RAD51C):c.1074_1110del (p.Glu360fs)
|
rs1343626760
|
|
NM_058216.3(RAD51C):c.1075A>G (p.Thr359Ala)
|
|
|
NM_058216.3(RAD51C):c.1075A>T (p.Thr359Ser)
|
rs1368752573
|
|
NM_058216.3(RAD51C):c.1076C>T (p.Thr359Ile)
|
|
|
NM_058216.3(RAD51C):c.1082G>A (p.Gly361Asp)
|
rs2049564193
|
|
NM_058216.3(RAD51C):c.1082G>T (p.Gly361Val)
|
|
|
NM_058216.3(RAD51C):c.1085C>T (p.Ser362Phe)
|
rs2049564336
|
|
NM_058216.3(RAD51C):c.1088T>C (p.Leu363Ser)
|
rs2144062004
|
|
NM_058216.3(RAD51C):c.1090A>C (p.Ser364Arg)
|
rs587782565
|
|
NM_058216.3(RAD51C):c.1091G>A (p.Ser364Asn)
|
|
|
NM_058216.3(RAD51C):c.1092C>G (p.Ser364Arg)
|
rs863224805
|
|
NM_058216.3(RAD51C):c.1093A>C (p.Thr365Pro)
|
rs1350543873
|
|
NM_058216.3(RAD51C):c.1093A>T (p.Thr365Ser)
|
rs1350543873
|
|
NM_058216.3(RAD51C):c.1094C>A (p.Thr365Asn)
|
rs755838887
|
|
NM_058216.3(RAD51C):c.1094C>G (p.Thr365Ser)
|
rs755838887
|
|
NM_058216.3(RAD51C):c.1094C>T (p.Thr365Ile)
|
rs755838887
|
|
NM_058216.3(RAD51C):c.1097G>C (p.Arg366Pro)
|
rs577852020
|
|
NM_058216.3(RAD51C):c.1098del (p.Lys367fs)
|
rs2144062356
|
|
NM_058216.3(RAD51C):c.1099A>C (p.Lys367Gln)
|
rs1598540332
|
|
NM_058216.3(RAD51C):c.109G>A (p.Glu37Lys)
|
|
|
NM_058216.3(RAD51C):c.109G>C (p.Glu37Gln)
|
rs1064794145
|
|
NM_058216.3(RAD51C):c.10A>C (p.Lys4Gln)
|
|
|
NM_058216.3(RAD51C):c.10A>G (p.Lys4Glu)
|
|
|
NM_058216.3(RAD51C):c.1103G>A (p.Arg368Gln)
|
rs1378390389
|
|
NM_058216.3(RAD51C):c.1103G>T (p.Arg368Leu)
|
rs1378390389
|
|
NM_058216.3(RAD51C):c.1106C>T (p.Ser369Leu)
|
rs2049566471
|
|
NM_058216.3(RAD51C):c.1108C>G (p.Arg370Gly)
|
|
|
NM_058216.3(RAD51C):c.1111G>A (p.Asp371Asn)
|
|
|
NM_058216.3(RAD51C):c.1111_1112del (p.Asp371fs)
|
|
|
NM_058216.3(RAD51C):c.1113C>A (p.Asp371Glu)
|
rs1598540411
|
|
NM_058216.3(RAD51C):c.1113C>G (p.Asp371Glu)
|
rs1598540411
|
|
NM_058216.3(RAD51C):c.1114C>A (p.Pro372Thr)
|
|
|
NM_058216.3(RAD51C):c.1120G>A (p.Glu374Lys)
|
rs1598540478
|
|
NM_058216.3(RAD51C):c.1123G>A (p.Glu375Lys)
|
rs1555605640
|
|
NM_058216.3(RAD51C):c.1126T>A (p.Leu376Ile)
|
rs864622632
|
|
NM_058216.3(RAD51C):c.1127_1129del (p.Leu376del)
|
rs1232402052
|
|
NM_058216.3(RAD51C):c.112C>T (p.Leu38Phe)
|
|
|
NM_058216.3(RAD51C):c.113T>C (p.Leu38Pro)
|
rs1555592021
|
|
NM_058216.3(RAD51C):c.115C>G (p.Leu39Val)
|
rs759149207
|
|
NM_058216.3(RAD51C):c.116T>G (p.Leu39Arg)
|
|
|
NM_058216.3(RAD51C):c.118G>A (p.Glu40Lys)
|
rs786204086
|
|
NM_058216.3(RAD51C):c.119A>G (p.Glu40Gly)
|
rs1555592039
|
|
NM_058216.3(RAD51C):c.11A>G (p.Lys4Arg)
|
rs2047798678
|
|
NM_058216.3(RAD51C):c.120G>C (p.Glu40Asp)
|
rs2143679565
|
|
NM_058216.3(RAD51C):c.121G>T (p.Val41Leu)
|
rs879254131
|
|
NM_058216.3(RAD51C):c.122T>C (p.Val41Ala)
|
|
|
NM_058216.3(RAD51C):c.127C>A (p.Pro43Thr)
|
rs1442559963
|
|
NM_058216.3(RAD51C):c.127C>G (p.Pro43Ala)
|
|
|
NM_058216.3(RAD51C):c.127C>T (p.Pro43Ser)
|
rs1442559963
|
|
NM_058216.3(RAD51C):c.12G>C (p.Lys4Asn)
|
|
|
NM_058216.3(RAD51C):c.131C>A (p.Ser44Tyr)
|
|
|
NM_058216.3(RAD51C):c.131C>T (p.Ser44Phe)
|
|
|
NM_058216.3(RAD51C):c.132_133delinsTA (p.Glu45Lys)
|
rs1555592076
|
|
NM_058216.3(RAD51C):c.133G>A (p.Glu45Lys)
|
|
|
NM_058216.3(RAD51C):c.134A>C (p.Glu45Ala)
|
rs587781383
|
|
NM_058216.3(RAD51C):c.135G>C (p.Glu45Asp)
|
rs371608994
|
|
NM_058216.3(RAD51C):c.136C>A (p.Leu46Ile)
|
rs1423724305
|
|
NM_058216.3(RAD51C):c.137T>C (p.Leu46Pro)
|
|
|
NM_058216.3(RAD51C):c.139A>C (p.Ser47Arg)
|
rs2047818737
|
|
NM_058216.3(RAD51C):c.139A>G (p.Ser47Gly)
|
rs2047818737
|
|
NM_058216.3(RAD51C):c.13A>G (p.Thr5Ala)
|
|
|
NM_058216.3(RAD51C):c.13A>T (p.Thr5Ser)
|
rs1314517659
|
|
NM_058216.3(RAD51C):c.140G>A (p.Ser47Asn)
|
rs2047818916
|
|
NM_058216.3(RAD51C):c.141C>A (p.Ser47Arg)
|
|
|
NM_058216.3(RAD51C):c.142A>G (p.Lys48Glu)
|
|
|
NM_058216.3(RAD51C):c.142_144del (p.Lys48del)
|
|
|
NM_058216.3(RAD51C):c.143A>G (p.Lys48Arg)
|
rs2143680972
|
|
NM_058216.3(RAD51C):c.144A>G (p.Lys48=)
|
|
|
NM_058216.3(RAD51C):c.145+18C>T
|
rs763292447
|
|
NM_058216.3(RAD51C):c.145+2_145+3insTT
|
rs1567783294
|
|
NM_058216.3(RAD51C):c.145+3A>G
|
rs536596205
|
|
NM_058216.3(RAD51C):c.145+4A>G
|
rs1598449822
|
|
NM_058216.3(RAD51C):c.145+4dup
|
|
|
NM_058216.3(RAD51C):c.145G>A (p.Glu49Lys)
|
rs753709131
|
|
NM_058216.3(RAD51C):c.146-2A>G
|
rs1555593457
|
|
NM_058216.3(RAD51C):c.146-3C>G
|
rs765143155
|
|
NM_058216.3(RAD51C):c.14C>G (p.Thr5Arg)
|
rs201523760
|
|
NM_058216.3(RAD51C):c.151G>A (p.Gly51Arg)
|
|
|
NM_058216.3(RAD51C):c.152G>C (p.Gly51Ala)
|
rs758236529
|
|
NM_058216.3(RAD51C):c.152G>T (p.Gly51Val)
|
rs758236529
|
|
NM_058216.3(RAD51C):c.154A>G (p.Ile52Val)
|
rs730881927
|
|
NM_058216.3(RAD51C):c.155T>A (p.Ile52Lys)
|
|
|
NM_058216.3(RAD51C):c.155T>G (p.Ile52Arg)
|
rs2143717510
|
|
NM_058216.3(RAD51C):c.156A>G (p.Ile52Met)
|
rs2047940282
|
|
NM_058216.3(RAD51C):c.157T>C (p.Ser53Pro)
|
rs2047940381
|
|
NM_058216.3(RAD51C):c.158C>G (p.Ser53Cys)
|
rs876659265
|
|
NM_058216.3(RAD51C):c.160A>G (p.Lys54Glu)
|
rs2047940709
|
|
NM_058216.3(RAD51C):c.163G>A (p.Ala55Thr)
|
rs1555593472
|
|
NM_058216.3(RAD51C):c.167A>G (p.Glu56Gly)
|
rs1567785734
|
|
NM_058216.3(RAD51C):c.168A>T (p.Glu56Asp)
|
|
|
NM_058216.3(RAD51C):c.169G>A (p.Ala57Thr)
|
rs1567785745
|
|
NM_058216.3(RAD51C):c.169G>T (p.Ala57Ser)
|
rs1567785745
|
|
NM_058216.3(RAD51C):c.16T>G (p.Phe6Val)
|
rs749498443
|
|
NM_058216.3(RAD51C):c.170C>G (p.Ala57Gly)
|
rs1598455307
|
|
NM_058216.3(RAD51C):c.175G>A (p.Glu59Lys)
|
rs2143718252
|
|
NM_058216.3(RAD51C):c.178A>G (p.Thr60Ala)
|
rs2047941918
|
|
NM_058216.3(RAD51C):c.17T>A (p.Phe6Tyr)
|
rs771332058
|
|
NM_058216.3(RAD51C):c.17T>G (p.Phe6Cys)
|
rs771332058
|
|
NM_058216.3(RAD51C):c.181_189del (p.Leu61_Ile63del)
|
|
|
NM_058216.3(RAD51C):c.186A>C (p.Gln62His)
|
rs28363303
|
|
NM_058216.3(RAD51C):c.187A>G (p.Ile63Val)
|
rs876659694
|
|
NM_058216.3(RAD51C):c.189_191del (p.Ile64del)
|
rs1555593498
|
|
NM_058216.3(RAD51C):c.18C>A (p.Phe6Leu)
|
rs774685897
|
|
NM_058216.3(RAD51C):c.18C>G (p.Phe6Leu)
|
rs774685897
|
|
NM_058216.3(RAD51C):c.190A>G (p.Ile64Val)
|
rs770335248
|
|
NM_058216.3(RAD51C):c.190A>T (p.Ile64Phe)
|
rs770335248
|
|
NM_058216.3(RAD51C):c.191T>C (p.Ile64Thr)
|
rs1555593511
|
|
NM_058216.3(RAD51C):c.193A>G (p.Arg65Gly)
|
rs1227348505
|
|
NM_058216.3(RAD51C):c.198A>T (p.Arg66Ser)
|
rs1060502585
|
|
NM_058216.3(RAD51C):c.19C>G (p.Arg7Gly)
|
rs759759863
|
|
NM_058216.3(RAD51C):c.19C>T (p.Arg7Cys)
|
rs759759863
|
|
NM_058216.3(RAD51C):c.1A>T (p.Met1Leu)
|
rs921435798
|
|
NM_058216.3(RAD51C):c.206T>C (p.Leu69Pro)
|
rs1555593527
|
|
NM_058216.3(RAD51C):c.208A>T (p.Thr70Ser)
|
|
|
NM_058216.3(RAD51C):c.209C>T (p.Thr70Ile)
|
rs1060502599
|
|
NM_058216.3(RAD51C):c.20G>C (p.Arg7Pro)
|
rs892567748
|
|
NM_058216.3(RAD51C):c.20G>T (p.Arg7Leu)
|
rs892567748
|
|
NM_058216.3(RAD51C):c.211A>C (p.Asn71His)
|
rs876659936
|
|
NM_058216.3(RAD51C):c.211A>T (p.Asn71Tyr)
|
rs876659936
|
|
NM_058216.3(RAD51C):c.212A>C (p.Asn71Thr)
|
rs1598455555
|
|
NM_058216.3(RAD51C):c.212A>G (p.Asn71Ser)
|
rs1598455555
|
|
NM_058216.3(RAD51C):c.217C>A (p.Pro73Thr)
|
rs1555593541
|
|
NM_058216.3(RAD51C):c.217C>G (p.Pro73Ala)
|
rs1555593541
|
|
NM_058216.3(RAD51C):c.217C>T (p.Pro73Ser)
|
rs1555593541
|
|
NM_058216.3(RAD51C):c.221G>A (p.Arg74Lys)
|
rs2143720177
|
|
NM_058216.3(RAD51C):c.222A>C (p.Arg74Ser)
|
|
|
NM_058216.3(RAD51C):c.222A>G (p.Arg74=)
|
rs2047945471
|
|
NM_058216.3(RAD51C):c.224A>G (p.Tyr75Cys)
|
rs2047945655
|
|
NM_058216.3(RAD51C):c.224A>T (p.Tyr75Phe)
|
|
|
NM_058216.3(RAD51C):c.226G>A (p.Ala76Thr)
|
rs1598455619
|
|
NM_058216.3(RAD51C):c.227C>A (p.Ala76Asp)
|
rs760175119
|
|
NM_058216.3(RAD51C):c.227C>G (p.Ala76Gly)
|
rs760175119
|
|
NM_058216.3(RAD51C):c.229G>T (p.Gly77Cys)
|
rs2143720670
|
|
NM_058216.3(RAD51C):c.22T>A (p.Phe8Ile)
|
|
|
NM_058216.3(RAD51C):c.22T>C (p.Phe8Leu)
|
|
|
NM_058216.3(RAD51C):c.230G>C (p.Gly77Ala)
|
rs1449359018
|
|
NM_058216.3(RAD51C):c.235T>A (p.Ser79Thr)
|
rs1567786001
|
|
NM_058216.3(RAD51C):c.235T>G (p.Ser79Ala)
|
|
|
NM_058216.3(RAD51C):c.236C>G (p.Ser79Cys)
|
|
|
NM_058216.3(RAD51C):c.236C>T (p.Ser79Phe)
|
rs1555593569
|
|
NM_058216.3(RAD51C):c.240G>T (p.Glu80Asp)
|
rs779053608
|
|
NM_058216.3(RAD51C):c.242C>T (p.Ser81Leu)
|
rs1555593587
|
|
NM_058216.3(RAD51C):c.244C>T (p.His82Tyr)
|
rs1555593593
|
|
NM_058216.3(RAD51C):c.245A>G (p.His82Arg)
|
rs1555593600
|
|
NM_058216.3(RAD51C):c.246C>G (p.His82Gln)
|
rs1555593602
|
|
NM_058216.3(RAD51C):c.247A>G (p.Lys83Glu)
|
rs2047947712
|
|
NM_058216.3(RAD51C):c.248A>C (p.Lys83Thr)
|
rs1333679774
|
|
NM_058216.3(RAD51C):c.249G>C (p.Lys83Asn)
|
rs145387081
|
|
NM_058216.3(RAD51C):c.24T>A (p.Phe8Leu)
|
rs587782698
|
|
NM_058216.3(RAD51C):c.251A>G (p.Lys84Arg)
|
rs1372016419
|
|
NM_058216.3(RAD51C):c.253T>G (p.Cys85Gly)
|
rs1060502595
|
|
NM_058216.3(RAD51C):c.254G>A (p.Cys85Tyr)
|
rs1555593627
|
|
NM_058216.3(RAD51C):c.254G>T (p.Cys85Phe)
|
|
|
NM_058216.3(RAD51C):c.256A>G (p.Thr86Ala)
|
|
|
NM_058216.3(RAD51C):c.257C>A (p.Thr86Lys)
|
|
|
NM_058216.3(RAD51C):c.257C>T (p.Thr86Ile)
|
rs876658986
|
|
NM_058216.3(RAD51C):c.259G>A (p.Ala87Thr)
|
rs1598455803
|
|
NM_058216.3(RAD51C):c.259G>T (p.Ala87Ser)
|
rs1598455803
|
|
NM_058216.3(RAD51C):c.260C>A (p.Ala87Glu)
|
rs1567786127
|
|
NM_058216.3(RAD51C):c.262C>G (p.Leu88Val)
|
rs786201383
|
|
NM_058216.3(RAD51C):c.265G>A (p.Glu89Lys)
|
rs876658197
|
|
NM_058216.3(RAD51C):c.265G>C (p.Glu89Gln)
|
rs876658197
|
|
NM_058216.3(RAD51C):c.266A>G (p.Glu89Gly)
|
rs2047949402
|
|
NM_058216.3(RAD51C):c.268C>T (p.Leu90Phe)
|
rs876659585
|
|
NM_058216.3(RAD51C):c.269T>G (p.Leu90Arg)
|
rs1064793934
|
|
NM_058216.3(RAD51C):c.26A>T (p.Glu9Val)
|
rs2143673258
|
|
NM_058216.3(RAD51C):c.271C>T (p.Leu91Phe)
|
rs1555593653
|
|
NM_058216.3(RAD51C):c.274G>A (p.Glu92Lys)
|
rs765304898
|
|
NM_058216.3(RAD51C):c.278A>C (p.Gln93Pro)
|
|
|
NM_058216.3(RAD51C):c.278A>G (p.Gln93Arg)
|
|
|
NM_058216.3(RAD51C):c.280G>A (p.Glu94Lys)
|
rs1277411638
|
|
NM_058216.3(RAD51C):c.283C>T (p.His95Tyr)
|
rs1317173760
|
|
NM_058216.3(RAD51C):c.284A>C (p.His95Pro)
|
rs1567786210
|
|
NM_058216.3(RAD51C):c.284A>G (p.His95Arg)
|
|
|
NM_058216.3(RAD51C):c.285T>G (p.His95Gln)
|
rs1555593678
|
|
NM_058216.3(RAD51C):c.286A>G (p.Thr96Ala)
|
|
|
NM_058216.3(RAD51C):c.287C>T (p.Thr96Ile)
|
|
|
NM_058216.3(RAD51C):c.289C>G (p.Gln97Glu)
|
rs1567786232
|
|
NM_058216.3(RAD51C):c.28A>G (p.Met10Val)
|
|
|
NM_058216.3(RAD51C):c.290A>G (p.Gln97Arg)
|
rs2047951391
|
|
NM_058216.3(RAD51C):c.291G>C (p.Gln97His)
|
|
|
NM_058216.3(RAD51C):c.293G>C (p.Gly98Ala)
|
rs1060502586
|
|
NM_058216.3(RAD51C):c.293G>T (p.Gly98Val)
|
rs1060502586
|
|
NM_058216.3(RAD51C):c.296_297delinsCT (p.Phe99Ser)
|
rs1555593696
|
|
NM_058216.3(RAD51C):c.298A>G (p.Ile100Val)
|
|
|
NM_058216.3(RAD51C):c.299T>A (p.Ile100Lys)
|
rs1567786268
|
|
NM_058216.3(RAD51C):c.29T>A (p.Met10Lys)
|
|
|
NM_058216.3(RAD51C):c.29T>C (p.Met10Thr)
|
rs730881936
|
|
NM_058216.3(RAD51C):c.301A>G (p.Ile101Val)
|
rs1555593699
|
|
NM_058216.3(RAD51C):c.304A>G (p.Thr102Ala)
|
rs2143723786
|
|
NM_058216.3(RAD51C):c.305C>A (p.Thr102Asn)
|
rs755106004
|
|
NM_058216.3(RAD51C):c.305C>T (p.Thr102Ile)
|
rs755106004
|
|
NM_058216.3(RAD51C):c.307T>C (p.Phe103Leu)
|
rs1114167446
|
|
NM_058216.3(RAD51C):c.308_310del (p.Phe103del)
|
rs1064794253
|
|
NM_058216.3(RAD51C):c.309C>G (p.Phe103Leu)
|
rs1484551212
|
|
NM_058216.3(RAD51C):c.30G>T (p.Met10Ile)
|
rs775871420
|
|
NM_058216.3(RAD51C):c.311G>A (p.Cys104Tyr)
|
rs1598456075
|
|
NM_058216.3(RAD51C):c.316G>A (p.Ala106Thr)
|
rs2143724307
|
|
NM_058216.3(RAD51C):c.317C>G (p.Ala106Gly)
|
|
|
NM_058216.3(RAD51C):c.317C>T (p.Ala106Val)
|
rs1060502594
|
|
NM_058216.3(RAD51C):c.319C>G (p.Leu107Val)
|
|
|
NM_058216.3(RAD51C):c.322G>C (p.Asp108His)
|
rs1567786361
|
|
NM_058216.3(RAD51C):c.323A>G (p.Asp108Gly)
|
rs1555593745
|
|
NM_058216.3(RAD51C):c.325G>T (p.Asp109Tyr)
|
rs778313181
|
|
NM_058216.3(RAD51C):c.326A>G (p.Asp109Gly)
|
|
|
NM_058216.3(RAD51C):c.328A>G (p.Ile110Val)
|
|
|
NM_058216.3(RAD51C):c.329T>G (p.Ile110Ser)
|
rs1555593751
|
|
NM_058216.3(RAD51C):c.32A>G (p.Gln11Arg)
|
rs730881937
|
|
NM_058216.3(RAD51C):c.331C>G (p.Leu111Val)
|
rs1402638488
|
|
NM_058216.3(RAD51C):c.332T>C (p.Leu111Pro)
|
|
|
NM_058216.3(RAD51C):c.334G>T (p.Gly112Trp)
|
|
|
NM_058216.3(RAD51C):c.335G>A (p.Gly112Glu)
|
rs370212314
|
|
NM_058216.3(RAD51C):c.335G>C (p.Gly112Ala)
|
rs370212314
|
|
NM_058216.3(RAD51C):c.335G>T (p.Gly112Val)
|
rs370212314
|
|
NM_058216.3(RAD51C):c.337G>C (p.Gly113Arg)
|
rs2047954842
|
|
NM_058216.3(RAD51C):c.337G>T (p.Gly113Cys)
|
rs2047954842
|
|
NM_058216.3(RAD51C):c.338G>A (p.Gly113Asp)
|
rs2047954937
|
|
NM_058216.3(RAD51C):c.33G>C (p.Gln11His)
|
|
|
NM_058216.3(RAD51C):c.341G>T (p.Gly114Val)
|
rs1555593767
|
|
NM_058216.3(RAD51C):c.343G>A (p.Val115Met)
|
rs1202473484
|
|
NM_058216.3(RAD51C):c.343G>C (p.Val115Leu)
|
|
|
NM_058216.3(RAD51C):c.344T>C (p.Val115Ala)
|
rs779104845
|
|
NM_058216.3(RAD51C):c.346C>T (p.Pro116Ser)
|
|
|
NM_058216.3(RAD51C):c.347C>A (p.Pro116His)
|
rs2047955710
|
|
NM_058216.3(RAD51C):c.347C>G (p.Pro116Arg)
|
rs2047955710
|
|
NM_058216.3(RAD51C):c.347C>T (p.Pro116Leu)
|
|
|
NM_058216.3(RAD51C):c.34C>G (p.Arg12Gly)
|
rs28910276
|
|
NM_058216.3(RAD51C):c.350T>C (p.Leu117Ser)
|
rs1598456283
|
|
NM_058216.3(RAD51C):c.352A>G (p.Met118Val)
|
rs2143725777
|
|
NM_058216.3(RAD51C):c.356A>G (p.Lys119Arg)
|
rs2047956106
|
|
NM_058216.3(RAD51C):c.358ACA[1] (p.Thr121del)
|
rs1555593808
|
|
NM_058216.3(RAD51C):c.362C>T (p.Thr121Ile)
|
rs2047956659
|
|
NM_058216.3(RAD51C):c.367A>G (p.Ile123Val)
|
rs1555593841
|
|
NM_058216.3(RAD51C):c.370T>G (p.Cys124Gly)
|
rs1273995533
|
|
NM_058216.3(RAD51C):c.371G>C (p.Cys124Ser)
|
rs2143726574
|
|
NM_058216.3(RAD51C):c.371G>T (p.Cys124Phe)
|
rs2143726574
|
|
NM_058216.3(RAD51C):c.373G>A (p.Gly125Ser)
|
rs142058115
|
|
NM_058216.3(RAD51C):c.374G>A (p.Gly125Asp)
|
rs267606998
|
|
NM_058216.3(RAD51C):c.377C>T (p.Ala126Val)
|
rs1555593858
|
|
NM_058216.3(RAD51C):c.379C>G (p.Pro127Ala)
|
|
|
NM_058216.3(RAD51C):c.379C>T (p.Pro127Ser)
|
rs587782222
|
|
NM_058216.3(RAD51C):c.37G>A (p.Asp13Asn)
|
rs1060502603
|
|
NM_058216.3(RAD51C):c.37G>C (p.Asp13His)
|
rs1060502603
|
|
NM_058216.3(RAD51C):c.380C>G (p.Pro127Arg)
|
|
|
NM_058216.3(RAD51C):c.380C>T (p.Pro127Leu)
|
|
|
NM_058216.3(RAD51C):c.382G>C (p.Gly128Arg)
|
rs879254160
|
|
NM_058216.3(RAD51C):c.383G>T (p.Gly128Val)
|
|
|
NM_058216.3(RAD51C):c.386T>C (p.Val129Ala)
|
rs876660641
|
|
NM_058216.3(RAD51C):c.388G>C (p.Gly130Arg)
|
|
|
NM_058216.3(RAD51C):c.389G>C (p.Gly130Ala)
|
rs2047958982
|
|
NM_058216.3(RAD51C):c.391A>C (p.Lys131Gln)
|
rs2143727680
|
|
NM_058216.3(RAD51C):c.392A>T (p.Lys131Ile)
|
rs762761380
|
|
NM_058216.3(RAD51C):c.395C>A (p.Thr132Lys)
|
|
|
NM_058216.3(RAD51C):c.395C>G (p.Thr132Arg)
|
rs730881930
|
|
NM_058216.3(RAD51C):c.397C>A (p.Gln133Lys)
|
rs387907159
|
|
NM_058216.3(RAD51C):c.398A>C (p.Gln133Pro)
|
|
|
NM_058216.3(RAD51C):c.3G>C (p.Met1Ile)
|
rs769053886
|
|
NM_058216.3(RAD51C):c.3G>T (p.Met1Ile)
|
rs769053886
|
|
NM_058216.3(RAD51C):c.401T>C (p.Leu134Ser)
|
rs1233795152
|
|
NM_058216.3(RAD51C):c.403T>C (p.Cys135Arg)
|
rs878855178
|
|
NM_058216.3(RAD51C):c.404+13G>A
|
rs547506164
|
|
NM_058216.3(RAD51C):c.404+3A>G
|
rs1060502598
|
|
NM_058216.3(RAD51C):c.404+6A>G
|
rs2047961180
|
|
NM_058216.3(RAD51C):c.404+6_404+10del
|
rs757693213
|
|
NM_058216.3(RAD51C):c.404+8A>G
|
|
|
NM_058216.3(RAD51C):c.405-3C>G
|
rs770815835
|
|
NM_058216.3(RAD51C):c.405-3C>T
|
rs770815835
|
|
NM_058216.3(RAD51C):c.405-6T>A
|
rs1064793245
|
|
NM_058216.3(RAD51C):c.405T>G (p.Cys135Trp)
|
|
|
NM_058216.3(RAD51C):c.406A>G (p.Met136Val)
|
|
|
NM_058216.3(RAD51C):c.407T>G (p.Met136Arg)
|
rs2048021034
|
|
NM_058216.3(RAD51C):c.408G>T (p.Met136Ile)
|
rs587780836
|
|
NM_058216.3(RAD51C):c.410A>T (p.Gln137Leu)
|
rs1555594548
|
|
NM_058216.3(RAD51C):c.411G>T (p.Gln137His)
|
rs1555594552
|
|
NM_058216.3(RAD51C):c.415G>A (p.Ala139Thr)
|
rs2048021584
|
|
NM_058216.3(RAD51C):c.415G>C (p.Ala139Pro)
|
rs2048021584
|
|
NM_058216.3(RAD51C):c.416C>T (p.Ala139Val)
|
rs1567788274
|
|
NM_058216.3(RAD51C):c.418G>A (p.Val140Ile)
|
rs730881938
|
|
NM_058216.3(RAD51C):c.419T>A (p.Val140Glu)
|
rs767247010
|
|
NM_058216.3(RAD51C):c.421G>A (p.Asp141Asn)
|
rs587780837
|
|
NM_058216.3(RAD51C):c.422A>G (p.Asp141Gly)
|
rs376494695
|
|
NM_058216.3(RAD51C):c.423T>G (p.Asp141Glu)
|
rs2048022400
|
|
NM_058216.3(RAD51C):c.425T>C (p.Val142Ala)
|
rs2143744027
|
|
NM_058216.3(RAD51C):c.430A>T (p.Ile144Leu)
|
rs1271229750
|
|
NM_058216.3(RAD51C):c.433C>A (p.Pro145Thr)
|
rs1555594594
|
|
NM_058216.3(RAD51C):c.433C>T (p.Pro145Ser)
|
rs1555594594
|
|
NM_058216.3(RAD51C):c.439T>C (p.Cys147Arg)
|
rs2048023614
|
|
NM_058216.3(RAD51C):c.440G>A (p.Cys147Tyr)
|
rs764177838
|
|
NM_058216.3(RAD51C):c.443T>C (p.Phe148Ser)
|
rs864622580
|
|
NM_058216.3(RAD51C):c.446G>A (p.Gly149Glu)
|
rs1555594622
|
|
NM_058216.3(RAD51C):c.446GAG[1] (p.Gly150del)
|
rs2048024043
|
|
NM_058216.3(RAD51C):c.448G>A (p.Gly150Arg)
|
rs553112850
|
|
NM_058216.3(RAD51C):c.44T>C (p.Val15Ala)
|
rs1060502593
|
|
NM_058216.3(RAD51C):c.44T>G (p.Val15Gly)
|
rs1060502593
|
|
NM_058216.3(RAD51C):c.454G>A (p.Ala152Thr)
|
rs1555594643
|
|
NM_058216.3(RAD51C):c.454G>T (p.Ala152Ser)
|
rs1555594643
|
|
NM_058216.3(RAD51C):c.461A>G (p.Glu154Gly)
|
rs758847241
|
|
NM_058216.3(RAD51C):c.463G>A (p.Ala155Thr)
|
rs755879664
|
|
NM_058216.3(RAD51C):c.464C>G (p.Ala155Gly)
|
rs777452778
|
|
NM_058216.3(RAD51C):c.467T>A (p.Val156Asp)
|
rs1435180142
|
|
NM_058216.3(RAD51C):c.46A>T (p.Ser16Cys)
|
|
|
NM_058216.3(RAD51C):c.470T>G (p.Phe157Cys)
|
rs1555594699
|
|
NM_058216.3(RAD51C):c.473T>C (p.Ile158Thr)
|
rs1394901462
|
|
NM_058216.3(RAD51C):c.476A>C (p.Asp159Ala)
|
rs1555594714
|
|
NM_058216.3(RAD51C):c.476A>T (p.Asp159Val)
|
|
|
NM_058216.3(RAD51C):c.477T>G (p.Asp159Glu)
|
rs760436864
|
|
NM_058216.3(RAD51C):c.47G>A (p.Ser16Asn)
|
rs1555591843
|
|
NM_058216.3(RAD51C):c.482A>T (p.Glu161Val)
|
rs1555594725
|
|
NM_058216.3(RAD51C):c.483G>T (p.Glu161Asp)
|
rs1188093917
|
|
NM_058216.3(RAD51C):c.484G>A (p.Gly162Arg)
|
|
|
NM_058216.3(RAD51C):c.485G>A (p.Gly162Glu)
|
rs35151472
|
|
NM_058216.3(RAD51C):c.488G>A (p.Ser163Asn)
|
rs1235906176
|
|
NM_058216.3(RAD51C):c.489T>A (p.Ser163Arg)
|
rs876659719
|
|
NM_058216.3(RAD51C):c.48T>C (p.Ser16=)
|
|
|
NM_058216.3(RAD51C):c.490T>G (p.Phe164Val)
|
rs1555594754
|
|
NM_058216.3(RAD51C):c.491T>C (p.Phe164Ser)
|
rs1060502589
|
|
NM_058216.3(RAD51C):c.493A>G (p.Met165Val)
|
rs1555594766
|
|
NM_058216.3(RAD51C):c.494T>C (p.Met165Thr)
|
rs1598460523
|
|
NM_058216.3(RAD51C):c.495G>A (p.Met165Ile)
|
rs1567788704
|
|
NM_058216.3(RAD51C):c.499G>C (p.Asp167His)
|
rs1555594778
|
|
NM_058216.3(RAD51C):c.499_501del (p.Asp167del)
|
rs2143747370
|
|
NM_058216.3(RAD51C):c.4C>G (p.Arg2Gly)
|
rs758029117
|
|
NM_058216.3(RAD51C):c.500A>G (p.Asp167Gly)
|
rs1598460593
|
|
NM_058216.3(RAD51C):c.502A>G (p.Arg168Gly)
|
rs587781490
|
|
NM_058216.3(RAD51C):c.503G>A (p.Arg168Lys)
|
|
|
NM_058216.3(RAD51C):c.505G>A (p.Val169Met)
|
|
|
NM_058216.3(RAD51C):c.508G>A (p.Val170Ile)
|
rs2048030325
|
|
NM_058216.3(RAD51C):c.50T>C (p.Phe17Ser)
|
rs1411454855
|
|
NM_058216.3(RAD51C):c.50T>G (p.Phe17Cys)
|
rs1411454855
|
|
NM_058216.3(RAD51C):c.511G>A (p.Asp171Asn)
|
rs2143747843
|
|
NM_058216.3(RAD51C):c.513C>A (p.Asp171Glu)
|
rs140279158
|
|
NM_058216.3(RAD51C):c.514C>T (p.Leu172Phe)
|
rs876660732
|
|
NM_058216.3(RAD51C):c.515T>G (p.Leu172Arg)
|
|
|
NM_058216.3(RAD51C):c.51C>A (p.Phe17Leu)
|
rs1598448876
|
|
NM_058216.3(RAD51C):c.520A>G (p.Thr174Ala)
|
rs864622278
|
|
NM_058216.3(RAD51C):c.521C>T (p.Thr174Ile)
|
rs2048031047
|
|
NM_058216.3(RAD51C):c.523G>T (p.Ala175Ser)
|
rs587780838
|
|
NM_058216.3(RAD51C):c.526T>C (p.Cys176Arg)
|
rs2048031436
|
|
NM_058216.3(RAD51C):c.529A>G (p.Ile177Val)
|
rs786201828
|
|
NM_058216.3(RAD51C):c.532C>A (p.Gln178Lys)
|
rs1555594861
|
|
NM_058216.3(RAD51C):c.533A>G (p.Gln178Arg)
|
rs1598460753
|
|
NM_058216.3(RAD51C):c.534G>T (p.Gln178His)
|
rs1567788846
|
|
NM_058216.3(RAD51C):c.535C>A (p.His179Asn)
|
|
|
NM_058216.3(RAD51C):c.539T>G (p.Leu180Arg)
|
rs1555594869
|
|
NM_058216.3(RAD51C):c.53C>A (p.Pro18Gln)
|
rs754498936
|
|
NM_058216.3(RAD51C):c.53C>G (p.Pro18Arg)
|
rs754498936
|
|
NM_058216.3(RAD51C):c.542A>G (p.Gln181Arg)
|
rs1064796060
|
|
NM_058216.3(RAD51C):c.543G>C (p.Gln181His)
|
|
|
NM_058216.3(RAD51C):c.554A>G (p.Glu185Gly)
|
rs2143749539
|
|
NM_058216.3(RAD51C):c.556A>G (p.Lys186Glu)
|
rs1363104728
|
|
NM_058216.3(RAD51C):c.556_558dup (p.Lys186dup)
|
rs776534031
|
|
NM_058216.3(RAD51C):c.559C>G (p.His187Asp)
|
|
|
NM_058216.3(RAD51C):c.560A>G (p.His187Arg)
|
|
|
NM_058216.3(RAD51C):c.561C>A (p.His187Gln)
|
rs2048033583
|
|
NM_058216.3(RAD51C):c.561C>G (p.His187Gln)
|
|
|
NM_058216.3(RAD51C):c.562A>G (p.Lys188Glu)
|
|
|
NM_058216.3(RAD51C):c.564G>T (p.Lys188Asn)
|
rs876658264
|
|
NM_058216.3(RAD51C):c.565G>A (p.Gly189Arg)
|
rs1330937621
|
|
NM_058216.3(RAD51C):c.566G>A (p.Gly189Glu)
|
rs1240012999
|
|
NM_058216.3(RAD51C):c.568G>A (p.Glu190Lys)
|
rs779932777
|
|
NM_058216.3(RAD51C):c.56T>A (p.Leu19Gln)
|
|
|
NM_058216.3(RAD51C):c.56T>C (p.Leu19Pro)
|
rs1598448973
|
|
NM_058216.3(RAD51C):c.570G>C (p.Glu190Asp)
|
|
|
NM_058216.3(RAD51C):c.571+3_571+6del
|
|
|
NM_058216.3(RAD51C):c.571+6T>G
|
rs1598461030
|
|
NM_058216.3(RAD51C):c.571+7T>A
|
|
|
NM_058216.3(RAD51C):c.572-3C>G
|
rs1567794089
|
|
NM_058216.3(RAD51C):c.572-3C>T
|
rs1567794089
|
|
NM_058216.3(RAD51C):c.572-5T>C
|
|
|
NM_058216.3(RAD51C):c.576C>A (p.His192Gln)
|
rs2143796505
|
|
NM_058216.3(RAD51C):c.576C>G (p.His192Gln)
|
|
|
NM_058216.3(RAD51C):c.577C>G (p.Arg193Gly)
|
|
|
NM_058216.3(RAD51C):c.583G>A (p.Ala195Thr)
|
rs1060502600
|
|
NM_058216.3(RAD51C):c.589G>A (p.Glu197Lys)
|
rs1555597094
|
|
NM_058216.3(RAD51C):c.592G>T (p.Asp198Tyr)
|
rs2143797075
|
|
NM_058216.3(RAD51C):c.593A>G (p.Asp198Gly)
|
rs2048269455
|
|
NM_058216.3(RAD51C):c.598A>G (p.Thr200Ala)
|
rs1369125082
|
|
NM_058216.3(RAD51C):c.59C>A (p.Ser20Tyr)
|
rs786203944
|
|
NM_058216.3(RAD51C):c.59C>G (p.Ser20Cys)
|
rs786203944
|
|
NM_058216.3(RAD51C):c.59C>T (p.Ser20Phe)
|
rs786203944
|
|
NM_058216.3(RAD51C):c.5G>A (p.Arg2His)
|
rs2047797645
|
|
NM_058216.3(RAD51C):c.601C>T (p.Leu201Phe)
|
|
|
NM_058216.3(RAD51C):c.602T>C (p.Leu201Pro)
|
rs587780839
|
|
NM_058216.3(RAD51C):c.602T>G (p.Leu201Arg)
|
|
|
NM_058216.3(RAD51C):c.605A>G (p.Asp202Gly)
|
rs1060502591
|
|
NM_058216.3(RAD51C):c.606T>A (p.Asp202Glu)
|
rs2048270218
|
|
NM_058216.3(RAD51C):c.608A>G (p.Asn203Ser)
|
|
|
NM_058216.3(RAD51C):c.610A>G (p.Ile204Val)
|
rs1598473225
|
|
NM_058216.3(RAD51C):c.617C>A (p.Ser206Tyr)
|
|
|
NM_058216.3(RAD51C):c.61C>A (p.Pro21Thr)
|
|
|
NM_058216.3(RAD51C):c.61C>G (p.Pro21Ala)
|
rs752608224
|
|
NM_058216.3(RAD51C):c.61C>T (p.Pro21Ser)
|
rs752608224
|
|
NM_058216.3(RAD51C):c.620A>T (p.His207Leu)
|
|
|
NM_058216.3(RAD51C):c.622A>T (p.Ile208Phe)
|
|
|
NM_058216.3(RAD51C):c.623T>G (p.Ile208Ser)
|
rs1598473279
|
|
NM_058216.3(RAD51C):c.624T>G (p.Ile208Met)
|
rs775006411
|
|
NM_058216.3(RAD51C):c.625T>G (p.Tyr209Asp)
|
rs2143798413
|
|
NM_058216.3(RAD51C):c.626A>T (p.Tyr209Phe)
|
rs1017384420
|
|
NM_058216.3(RAD51C):c.629A>G (p.Tyr210Cys)
|
rs1598473310
|
|
NM_058216.3(RAD51C):c.631T>C (p.Phe211Leu)
|
rs2048271607
|
|
NM_058216.3(RAD51C):c.634C>A (p.Arg212Ser)
|
rs137947462
|
|
NM_058216.3(RAD51C):c.634C>G (p.Arg212Gly)
|
rs137947462
|
|
NM_058216.3(RAD51C):c.635G>T (p.Arg212Leu)
|
rs200857129
|
|
NM_058216.3(RAD51C):c.637T>C (p.Cys213Arg)
|
|
|
NM_058216.3(RAD51C):c.638G>C (p.Cys213Ser)
|
rs2143798852
|
|
NM_058216.3(RAD51C):c.645C>G (p.Asp215Glu)
|
rs2143799278
|
|
NM_058216.3(RAD51C):c.647A>G (p.Tyr216Cys)
|
rs746755735
|
|
NM_058216.3(RAD51C):c.649A>C (p.Thr217Pro)
|
|
|
NM_058216.3(RAD51C):c.649A>G (p.Thr217Ala)
|
rs1555597189
|
|
NM_058216.3(RAD51C):c.649A>T (p.Thr217Ser)
|
rs1555597189
|
|
NM_058216.3(RAD51C):c.658C>G (p.Leu220Val)
|
|
|
NM_058216.3(RAD51C):c.659T>C (p.Leu220Pro)
|
|
|
NM_058216.3(RAD51C):c.65C>G (p.Ala22Gly)
|
|
|
NM_058216.3(RAD51C):c.667G>A (p.Val223Ile)
|
rs876660177
|
|
NM_058216.3(RAD51C):c.670_705+64dup
|
rs1555597210
|
|
NM_058216.3(RAD51C):c.671A>G (p.Tyr224Cys)
|
rs730881924
|
|
NM_058216.3(RAD51C):c.672_705+65dup
|
rs1555597214
|
|
NM_058216.3(RAD51C):c.674T>C (p.Leu225Pro)
|
rs1032681872
|
|
NM_058216.3(RAD51C):c.674TTC[1] (p.Leu226del)
|
rs1555597217
|
|
NM_058216.3(RAD51C):c.677T>C (p.Leu226Pro)
|
rs1225858240
|
|
NM_058216.3(RAD51C):c.679C>T (p.Pro227Ser)
|
rs958242201
|
|
NM_058216.3(RAD51C):c.67G>A (p.Val23Met)
|
rs1386696811
|
|
NM_058216.3(RAD51C):c.67G>C (p.Val23Leu)
|
rs1386696811
|
|
NM_058216.3(RAD51C):c.683A>G (p.Asp228Gly)
|
rs2048274960
|
|
NM_058216.3(RAD51C):c.683A>T (p.Asp228Val)
|
rs2048274960
|
|
NM_058216.3(RAD51C):c.685T>A (p.Phe229Ile)
|
|
|
NM_058216.3(RAD51C):c.688C>T (p.Leu230Phe)
|
rs751528808
|
|
NM_058216.3(RAD51C):c.68T>C (p.Val23Ala)
|
|
|
NM_058216.3(RAD51C):c.692C>T (p.Ser231Leu)
|
rs1060502588
|
|
NM_058216.3(RAD51C):c.694G>A (p.Glu232Lys)
|
rs2143801948
|
|
NM_058216.3(RAD51C):c.696A>T (p.Glu232Asp)
|
rs786201177
|
|
NM_058216.3(RAD51C):c.697C>T (p.His233Tyr)
|
rs2143802148
|
|
NM_058216.3(RAD51C):c.698A>C (p.His233Pro)
|
|
|
NM_058216.3(RAD51C):c.698A>G (p.His233Arg)
|
rs754895072
|
|
NM_058216.3(RAD51C):c.703A>G (p.Lys235Glu)
|
rs1555597252
|
|
NM_058216.3(RAD51C):c.705+3A>G
|
rs878855179
|
|
NM_058216.3(RAD51C):c.705+3A>T
|
rs878855179
|
|
NM_058216.3(RAD51C):c.705+4T>G
|
rs778157321
|
|
NM_058216.3(RAD51C):c.705+6A>C
|
|
|
NM_058216.3(RAD51C):c.705G>T (p.Lys235Asn)
|
rs755849719
|
|
NM_058216.3(RAD51C):c.706-9T>A
|
rs1060504671
|
|
NM_058216.3(RAD51C):c.706-9T>G
|
rs1060504671
|
|
NM_058216.3(RAD51C):c.706G>T (p.Val236Phe)
|
rs2143849926
|
|
NM_058216.3(RAD51C):c.707T>A (p.Val236Asp)
|
rs1555599091
|
|
NM_058216.3(RAD51C):c.70C>G (p.Arg24Gly)
|
rs878855180
|
|
NM_058216.3(RAD51C):c.70C>T (p.Arg24Trp)
|
rs878855180
|
|
NM_058216.3(RAD51C):c.710G>C (p.Arg237Pro)
|
rs370393672
|
|
NM_058216.3(RAD51C):c.710G>T (p.Arg237Leu)
|
|
|
NM_058216.3(RAD51C):c.713T>C (p.Leu238Pro)
|
rs1060502606
|
|
NM_058216.3(RAD51C):c.713T>G (p.Leu238Arg)
|
rs1060502606
|
|
NM_058216.3(RAD51C):c.715G>C (p.Val239Leu)
|
rs1064795326
|
|
NM_058216.3(RAD51C):c.715G>T (p.Val239Leu)
|
rs1064795326
|
|
NM_058216.3(RAD51C):c.716T>A (p.Val239Glu)
|
rs1064795220
|
|
NM_058216.3(RAD51C):c.718A>G (p.Ile240Val)
|
rs863224806
|
|
NM_058216.3(RAD51C):c.718A>T (p.Ile240Leu)
|
rs863224806
|
|
NM_058216.3(RAD51C):c.71G>A (p.Arg24Gln)
|
rs777554369
|
|
NM_058216.3(RAD51C):c.71G>T (p.Arg24Leu)
|
rs777554369
|
|
NM_058216.3(RAD51C):c.71_85dup (p.Val28_Ser29insTrpValLysLeuVal)
|
rs1598449114
|
|
NM_058216.3(RAD51C):c.724G>A (p.Asp242Asn)
|
rs876659188
|
|
NM_058216.3(RAD51C):c.725A>G (p.Asp242Gly)
|
rs2048494505
|
|
NM_058216.3(RAD51C):c.725A>T (p.Asp242Val)
|
rs2048494505
|
|
NM_058216.3(RAD51C):c.727G>A (p.Gly243Ser)
|
rs2048494596
|
|
NM_058216.3(RAD51C):c.728G>A (p.Gly243Asp)
|
|
|
NM_058216.3(RAD51C):c.728G>C (p.Gly243Ala)
|
|
|
NM_058216.3(RAD51C):c.730A>T (p.Ile244Phe)
|
rs199886026
|
|
NM_058216.3(RAD51C):c.732T>G (p.Ile244Met)
|
rs2048495083
|
|
NM_058216.3(RAD51C):c.734C>T (p.Ala245Val)
|
rs1555599151
|
|
NM_058216.3(RAD51C):c.73G>C (p.Val25Leu)
|
rs757116652
|
|
NM_058216.3(RAD51C):c.73G>T (p.Val25Leu)
|
rs757116652
|
|
NM_058216.3(RAD51C):c.742T>C (p.Phe248Leu)
|
rs876659496
|
|
NM_058216.3(RAD51C):c.744T>G (p.Phe248Leu)
|
|
|
NM_058216.3(RAD51C):c.745C>G (p.Arg249Gly)
|
rs28363311
|
|
NM_058216.3(RAD51C):c.745C>T (p.Arg249Cys)
|
rs28363311
|
|
NM_058216.3(RAD51C):c.748C>G (p.His250Asp)
|
rs531540031
|
|
NM_058216.3(RAD51C):c.749A>G (p.His250Arg)
|
rs1060502597
|
|
NM_058216.3(RAD51C):c.74T>C (p.Val25Ala)
|
rs2047809263
|
|
NM_058216.3(RAD51C):c.752A>G (p.Asp251Gly)
|
rs2048496443
|
|
NM_058216.3(RAD51C):c.755T>A (p.Leu252Gln)
|
rs2048496750
|
|
NM_058216.3(RAD51C):c.757G>C (p.Asp253His)
|
|
|
NM_058216.3(RAD51C):c.764T>C (p.Leu255Pro)
|
rs1567799667
|
|
NM_058216.3(RAD51C):c.767C>G (p.Ser256Cys)
|
rs2143852373
|
|
NM_058216.3(RAD51C):c.773G>C (p.Arg258Pro)
|
rs267606997
|
|
NM_058216.3(RAD51C):c.773G>T (p.Arg258Leu)
|
rs267606997
|
|
NM_058216.3(RAD51C):c.775A>G (p.Thr259Ala)
|
rs779954908
|
|
NM_058216.3(RAD51C):c.775A>T (p.Thr259Ser)
|
rs779954908
|
|
NM_058216.3(RAD51C):c.779G>C (p.Arg260Pro)
|
rs730881926
|
|
NM_058216.3(RAD51C):c.788A>G (p.Asn263Ser)
|
rs935771120
|
|
NM_058216.3(RAD51C):c.791G>T (p.Gly264Val)
|
rs1283065191
|
|
NM_058216.3(RAD51C):c.793C>A (p.Leu265Ile)
|
rs759072716
|
|
NM_058216.3(RAD51C):c.797C>A (p.Ala266Asp)
|
rs1555599239
|
|
NM_058216.3(RAD51C):c.797C>T (p.Ala266Val)
|
rs1555599239
|
|
NM_058216.3(RAD51C):c.7G>C (p.Gly3Arg)
|
rs376403182
|
|
NM_058216.3(RAD51C):c.7G>T (p.Gly3Trp)
|
rs376403182
|
|
NM_058216.3(RAD51C):c.801G>C (p.Gln267His)
|
rs2048499866
|
|
NM_058216.3(RAD51C):c.802C>A (p.Gln268Lys)
|
rs1567799818
|
|
NM_058216.3(RAD51C):c.803A>G (p.Gln268Arg)
|
rs1064794654
|
|
NM_058216.3(RAD51C):c.805A>G (p.Met269Val)
|
rs878855181
|
|
NM_058216.3(RAD51C):c.805A>T (p.Met269Leu)
|
rs878855181
|
|
NM_058216.3(RAD51C):c.808A>G (p.Ile270Val)
|
rs1555599250
|
|
NM_058216.3(RAD51C):c.80T>C (p.Leu27Pro)
|
rs587781309
|
|
NM_058216.3(RAD51C):c.810C>G (p.Ile270Met)
|
rs1555599252
|
|
NM_058216.3(RAD51C):c.811A>G (p.Ser271Gly)
|
rs1555599256
|
|
NM_058216.3(RAD51C):c.812G>A (p.Ser271Asn)
|
rs1060502596
|
|
NM_058216.3(RAD51C):c.814C>T (p.Leu272Phe)
|
|
|
NM_058216.3(RAD51C):c.817G>C (p.Ala273Pro)
|
rs1598484818
|
|
NM_058216.3(RAD51C):c.818C>T (p.Ala273Val)
|
rs1555599262
|
|
NM_058216.3(RAD51C):c.820A>G (p.Asn274Asp)
|
|
|
NM_058216.3(RAD51C):c.821A>G (p.Asn274Ser)
|
rs1598484851
|
|
NM_058216.3(RAD51C):c.822T>G (p.Asn274Lys)
|
rs2048501654
|
|
NM_058216.3(RAD51C):c.826C>A (p.His276Asn)
|
rs1567799906
|
|
NM_058216.3(RAD51C):c.826C>T (p.His276Tyr)
|
rs1567799906
|
|
NM_058216.3(RAD51C):c.827A>C (p.His276Pro)
|
rs1567799913
|
|
NM_058216.3(RAD51C):c.82G>A (p.Val28Met)
|
rs1060502587
|
|
NM_058216.3(RAD51C):c.82G>C (p.Val28Leu)
|
rs1060502587
|
|
NM_058216.3(RAD51C):c.830G>C (p.Arg277Thr)
|
|
|
NM_058216.3(RAD51C):c.831A>G (p.Arg277=)
|
|
|
NM_058216.3(RAD51C):c.831A>T (p.Arg277Ser)
|
|
|
NM_058216.3(RAD51C):c.833T>C (p.Leu278Ser)
|
rs1555599274
|
|
NM_058216.3(RAD51C):c.835G>A (p.Ala279Thr)
|
|
|
NM_058216.3(RAD51C):c.835G>C (p.Ala279Pro)
|
rs587782507
|
|
NM_058216.3(RAD51C):c.836C>G (p.Ala279Gly)
|
rs2048502472
|
|
NM_058216.3(RAD51C):c.837+2dup
|
rs2048502931
|
|
NM_058216.3(RAD51C):c.837+4A>G
|
|
|
NM_058216.3(RAD51C):c.837+4del
|
rs1598484905
|
|
NM_058216.3(RAD51C):c.837+5G>C
|
rs1567799952
|
|
NM_058216.3(RAD51C):c.837T>C (p.Ala279=)
|
|
|
NM_058216.3(RAD51C):c.838G>A (p.Val280Ile)
|
rs876660718
|
|
NM_058216.3(RAD51C):c.841A>G (p.Ile281Val)
|
rs1439877158
|
|
NM_058216.3(RAD51C):c.850A>G (p.Asn284Asp)
|
rs1555602090
|
|
NM_058216.3(RAD51C):c.851A>G (p.Asn284Ser)
|
rs1555602095
|
|
NM_058216.3(RAD51C):c.852T>G (p.Asn284Lys)
|
rs2143930037
|
|
NM_058216.3(RAD51C):c.854A>G (p.Gln285Arg)
|
rs876660018
|
|
NM_058216.3(RAD51C):c.855G>C (p.Gln285His)
|
rs876660369
|
|
NM_058216.3(RAD51C):c.855G>T (p.Gln285His)
|
rs876660369
|
|
NM_058216.3(RAD51C):c.856A>G (p.Met286Val)
|
rs1567808196
|
|
NM_058216.3(RAD51C):c.858G>C (p.Met286Ile)
|
rs2048890830
|
|
NM_058216.3(RAD51C):c.859A>C (p.Thr287Pro)
|
rs28363317
|
|
NM_058216.3(RAD51C):c.862A>G (p.Thr288Ala)
|
rs587781574
|
|
NM_058216.3(RAD51C):c.863C>G (p.Thr288Arg)
|
rs2143930483
|
|
NM_058216.3(RAD51C):c.865A>G (p.Lys289Glu)
|
|
|
NM_058216.3(RAD51C):c.866A>G (p.Lys289Arg)
|
rs1390237532
|
|
NM_058216.3(RAD51C):c.868A>T (p.Ile290Phe)
|
rs2048891385
|
|
NM_058216.3(RAD51C):c.86C>T (p.Ser29Phe)
|
rs876659683
|
|
NM_058216.3(RAD51C):c.870T>G (p.Ile290Met)
|
rs376402418
|
|
NM_058216.3(RAD51C):c.872A>T (p.Asp291Val)
|
rs1555602124
|
|
NM_058216.3(RAD51C):c.873T>G (p.Asp291Glu)
|
rs1288802398
|
|
NM_058216.3(RAD51C):c.874A>G (p.Arg292Gly)
|
rs775208053
|
|
NM_058216.3(RAD51C):c.875G>A (p.Arg292Lys)
|
|
|
NM_058216.3(RAD51C):c.876A>C (p.Arg292Ser)
|
|
|
NM_058216.3(RAD51C):c.877A>C (p.Asn293His)
|
rs1567808290
|
|
NM_058216.3(RAD51C):c.878A>G (p.Asn293Ser)
|
rs1246031520
|
|
NM_058216.3(RAD51C):c.87T>C (p.Ser29=)
|
rs786203249
|
|
NM_058216.3(RAD51C):c.883G>T (p.Ala295Ser)
|
rs746571208
|
|
NM_058216.3(RAD51C):c.884C>A (p.Ala295Asp)
|
|
|
NM_058216.3(RAD51C):c.884C>G (p.Ala295Gly)
|
rs1555602136
|
|
NM_058216.3(RAD51C):c.884C>T (p.Ala295Val)
|
rs1555602136
|
|
NM_058216.3(RAD51C):c.886T>G (p.Leu296Val)
|
|
|
NM_058216.3(RAD51C):c.88G>C (p.Ala30Pro)
|
rs1331134740
|
|
NM_058216.3(RAD51C):c.88G>T (p.Ala30Ser)
|
rs1331134740
|
|
NM_058216.3(RAD51C):c.890T>G (p.Leu297Arg)
|
rs143026267
|
|
NM_058216.3(RAD51C):c.892G>A (p.Val298Ile)
|
|
|
NM_058216.3(RAD51C):c.896C>T (p.Pro299Leu)
|
rs878855182
|
|
NM_058216.3(RAD51C):c.898G>T (p.Ala300Ser)
|
rs2048893581
|
|
NM_058216.3(RAD51C):c.899C>A (p.Ala300Glu)
|
rs1444333199
|
|
NM_058216.3(RAD51C):c.89C>T (p.Ala30Val)
|
rs1000113630
|
|
NM_058216.3(RAD51C):c.8G>A (p.Gly3Glu)
|
rs1555591761
|
|
NM_058216.3(RAD51C):c.8G>C (p.Gly3Ala)
|
rs1555591761
|
|
NM_058216.3(RAD51C):c.903A>C (p.Leu301Phe)
|
rs761799817
|
|
NM_058216.3(RAD51C):c.904+3G>A
|
|
|
NM_058216.3(RAD51C):c.904+3G>T
|
rs1290236617
|
|
NM_058216.3(RAD51C):c.904+4G>A
|
|
|
NM_058216.3(RAD51C):c.904+4G>T
|
rs2048894318
|
|
NM_058216.3(RAD51C):c.904+6T>C
|
rs1555602163
|
|
NM_058216.3(RAD51C):c.904G>A (p.Gly302Arg)
|
rs1555602158
|
|
NM_058216.3(RAD51C):c.905-3C>T
|
rs2143961087
|
|
NM_058216.3(RAD51C):c.905-5C>G
|
rs371968149
|
|
NM_058216.3(RAD51C):c.905G>T (p.Gly302Val)
|
rs786203304
|
|
NM_058216.3(RAD51C):c.909A>T (p.Glu303Asp)
|
rs2049020875
|
|
NM_058216.3(RAD51C):c.910A>G (p.Ser304Gly)
|
rs2143961390
|
|
NM_058216.3(RAD51C):c.911G>T (p.Ser304Ile)
|
rs1598510989
|
|
NM_058216.3(RAD51C):c.912T>G (p.Ser304Arg)
|
rs876659009
|
|
NM_058216.3(RAD51C):c.913T>C (p.Trp305Arg)
|
|
|
NM_058216.3(RAD51C):c.916G>A (p.Gly306Arg)
|
rs587782733
|
|
NM_058216.3(RAD51C):c.920A>G (p.His307Arg)
|
rs2049021589
|
|
NM_058216.3(RAD51C):c.921T>A (p.His307Gln)
|
rs2143961779
|
|
NM_058216.3(RAD51C):c.922G>A (p.Ala308Thr)
|
|
|
NM_058216.3(RAD51C):c.926C>T (p.Ala309Val)
|
|
|
NM_058216.3(RAD51C):c.929C>T (p.Thr310Ile)
|
rs2049022193
|
|
NM_058216.3(RAD51C):c.92G>C (p.Gly31Ala)
|
|
|
NM_058216.3(RAD51C):c.932T>A (p.Ile311Lys)
|
rs786203766
|
|
NM_058216.3(RAD51C):c.932T>C (p.Ile311Thr)
|
rs786203766
|
|
NM_058216.3(RAD51C):c.941T>C (p.Ile314Thr)
|
rs2143962436
|
|
NM_058216.3(RAD51C):c.952G>A (p.Asp318Asn)
|
rs876659875
|
|
NM_058216.3(RAD51C):c.952G>C (p.Asp318His)
|
rs876659875
|
|
NM_058216.3(RAD51C):c.955C>A (p.Arg319=)
|
rs587781287
|
|
NM_058216.3(RAD51C):c.955C>G (p.Arg319Gly)
|
rs587781287
|
|
NM_058216.3(RAD51C):c.958A>G (p.Lys320Glu)
|
rs1567810482
|
|
NM_058216.3(RAD51C):c.959A>G (p.Lys320Arg)
|
rs587780260
|
|
NM_058216.3(RAD51C):c.960G>C (p.Lys320Asn)
|
rs864622395
|
|
NM_058216.3(RAD51C):c.962A>G (p.Gln321Arg)
|
rs1555603052
|
|
NM_058216.3(RAD51C):c.964A>C (p.Arg322=)
|
rs864622343
|
|
NM_058216.3(RAD51C):c.965+21A>G
|
rs752811386
|
|
NM_058216.3(RAD51C):c.965+3C>G
|
|
|
NM_058216.3(RAD51C):c.965+867A>G
|
|
|
NM_058216.3(RAD51C):c.965G>A (p.Arg322Lys)
|
rs1555603059
|
|
NM_058216.3(RAD51C):c.965G>C (p.Arg322Thr)
|
rs1555603059
|
|
NM_058216.3(RAD51C):c.966-1G>A
|
rs876658272
|
|
NM_058216.3(RAD51C):c.966-1G>T
|
rs876658272
|
|
NM_058216.3(RAD51C):c.966-2A>G
|
rs1436204606
|
|
NM_058216.3(RAD51C):c.966-3C>T
|
rs1064796091
|
|
NM_058216.3(RAD51C):c.966-6A>G
|
|
|
NM_058216.3(RAD51C):c.966G>A (p.Arg322=)
|
rs1567817289
|
|
NM_058216.3(RAD51C):c.966G>T (p.Arg322Ser)
|
rs1567817289
|
|
NM_058216.3(RAD51C):c.968T>G (p.Leu323Trp)
|
rs587782045
|
|
NM_058216.3(RAD51C):c.96C>G (p.Phe32Leu)
|
rs1228923241
|
|
NM_058216.3(RAD51C):c.971C>T (p.Ala324Val)
|
rs2144044470
|
|
NM_058216.3(RAD51C):c.973A>G (p.Thr325Ala)
|
rs1555605054
|
|
NM_058216.3(RAD51C):c.974C>T (p.Thr325Ile)
|
|
|
NM_058216.3(RAD51C):c.977T>C (p.Leu326Ser)
|
rs749208768
|
|
NM_058216.3(RAD51C):c.977T>G (p.Leu326Trp)
|
rs749208768
|
|
NM_058216.3(RAD51C):c.977_979del (p.Leu326del)
|
rs2144044664
|
|
NM_058216.3(RAD51C):c.978G>C (p.Leu326Phe)
|
rs770652503
|
|
NM_058216.3(RAD51C):c.984G>C (p.Lys328Asn)
|
|
|
NM_058216.3(RAD51C):c.986C>T (p.Ser329Leu)
|
rs1567817363
|
|
NM_058216.3(RAD51C):c.988C>T (p.Pro330Ser)
|
rs1555605068
|
|
NM_058216.3(RAD51C):c.989C>G (p.Pro330Arg)
|
rs1567817392
|
|
NM_058216.3(RAD51C):c.989C>T (p.Pro330Leu)
|
rs1567817392
|
|
NM_058216.3(RAD51C):c.992G>A (p.Ser331Asn)
|
rs786202681
|
|
NM_058216.3(RAD51C):c.992G>C (p.Ser331Thr)
|
|
|
NM_058216.3(RAD51C):c.992G>T (p.Ser331Ile)
|
rs786202681
|
|
NM_058216.3(RAD51C):c.993C>A (p.Ser331Arg)
|
rs2049471711
|
|
NM_058216.3(RAD51C):c.994C>A (p.Gln332Lys)
|
rs1555605074
|
|
NM_058216.3(RAD51C):c.999G>T (p.Lys333Asn)
|
rs2049471981
|
|
NM_058216.3(RAD51C):c.99G>C (p.Gln33His)
|
rs1598449381
|
|
NM_058216.3(RAD51C):c.99G>T (p.Gln33His)
|
rs1598449381
|
|
NM_080669.6(SLC46A1):c.*1335C>T
|
rs1390797851
|
|
NM_080669.6(SLC46A1):c.*1383A>G
|
rs560836860
|
|
NM_080669.6(SLC46A1):c.*1627T>A
|
rs886052747
|
|
NM_080669.6(SLC46A1):c.*1981C>T
|
rs41297919
|
|
NM_080669.6(SLC46A1):c.*2401G>A
|
rs555975005
|
|
NM_080669.6(SLC46A1):c.*2486T>C
|
rs537647948
|
|
NM_080669.6(SLC46A1):c.*2513G>C
|
rs576823032
|
|
NM_080669.6(SLC46A1):c.*2661G>C
|
rs886052745
|
|
NM_080669.6(SLC46A1):c.*277A>G
|
rs886052751
|
|
NM_080669.6(SLC46A1):c.*2901C>T
|
rs2068129559
|
|
NM_080669.6(SLC46A1):c.*2945G>A
|
rs1339848912
|
|
NM_080669.6(SLC46A1):c.*3009G>A
|
rs2239910
|
|
NM_080669.6(SLC46A1):c.*3203A>G
|
rs886052743
|
|
NM_080669.6(SLC46A1):c.*3302A>G
|
rs886052742
|
|
NM_080669.6(SLC46A1):c.*3402A>G
|
rs781986662
|
|
NM_080669.6(SLC46A1):c.*3456G>C
|
rs372946020
|
|
NM_080669.6(SLC46A1):c.*3603C>T
|
rs782370729
|
|
NM_080669.6(SLC46A1):c.*3677C>G
|
rs886052741
|
|
NM_080669.6(SLC46A1):c.*3913A>T
|
rs886052739
|
|
NM_080669.6(SLC46A1):c.*4184T>G
|
rs2068108606
|
|
NM_080669.6(SLC46A1):c.*4634_*4635dup
|
rs34879232
|
|
NM_080669.6(SLC46A1):c.*4742A>G
|
rs886052736
|
|
NM_080669.6(SLC46A1):c.*4G>T
|
rs886052753
|
|
NM_080669.6(SLC46A1):c.*90G>A
|
rs782079474
|
|
NM_080669.6(SLC46A1):c.1061T>G (p.Ile354Ser)
|
rs1567818058
|
|
NM_080669.6(SLC46A1):c.1334del (p.Lys445fs)
|
|
|
NM_080669.6(SLC46A1):c.189G>T (p.Arg63Ser)
|
rs41297071
|
|
NM_080669.6(SLC46A1):c.501C>G (p.Ser167=)
|
rs2068243273
|
|
NM_080669.6(SLC46A1):c.667A>T (p.Thr223Ser)
|
rs886052756
|
|
NM_080669.6(SLC46A1):c.904A>C (p.Lys302Gln)
|
rs886052755
|
|
NM_133459.4(CCBE1):c.2T>G (p.Met1Arg)
|
|
|
NM_138477.4(CDAN1):c.*174G>C
|
rs2061494783
|
|
NM_138477.4(CDAN1):c.*249GTTT[1]
|
rs767935615
|
|
NM_138477.4(CDAN1):c.*539C>T
|
rs1314999197
|
|
NM_138477.4(CDAN1):c.*600A>G
|
rs886051155
|
|
NM_138477.4(CDAN1):c.*641G>T
|
rs2061489811
|
|
NM_138477.4(CDAN1):c.*657A>G
|
rs752891192
|
|
NM_138477.4(CDAN1):c.*680C>G
|
rs965392126
|
|
NM_138477.4(CDAN1):c.*687G>C
|
rs1245688161
|
|
NM_138477.4(CDAN1):c.*731C>A
|
rs2061488733
|
|
NM_138477.4(CDAN1):c.*775AACA[1]
|
rs531320636
|
|
NM_138477.4(CDAN1):c.*788G>T
|
rs886051154
|
|
NM_138477.4(CDAN1):c.*827A>G
|
rs573659922
|
|
NM_138477.4(CDAN1):c.*896T>C
|
rs2061486806
|
|
NM_138477.4(CDAN1):c.*94T>C
|
rs2061495632
|
|
NM_138477.4(CDAN1):c.1138G>C (p.Val380Leu)
|
|
|
NM_138477.4(CDAN1):c.1180G>A (p.Glu394Lys)
|
|
|
NM_138477.4(CDAN1):c.1322C>T (p.Ala441Val)
|
rs886051158
|
|
NM_138477.4(CDAN1):c.1340G>A (p.Arg447Gln)
|
|
|
NM_138477.4(CDAN1):c.134T>C (p.Leu45Pro)
|
|
|
NM_138477.4(CDAN1):c.1384G>A (p.Val462Met)
|
|
|
NM_138477.4(CDAN1):c.1448G>A (p.Ser483Asn)
|
|
|
NM_138477.4(CDAN1):c.1489AGCCAC[3] (p.497SH[3])
|
rs778227051
|
|
NM_138477.4(CDAN1):c.1507C>T (p.Arg503Trp)
|
rs748862062
|
|
NM_138477.4(CDAN1):c.1587T>G (p.Asp529Glu)
|
|
|
NM_138477.4(CDAN1):c.1606G>C (p.Ala536Pro)
|
|
|
NM_138477.4(CDAN1):c.1663A>G (p.Ser555Gly)
|
|
|
NM_138477.4(CDAN1):c.1681C>T (p.Pro561Ser)
|
|
|
NM_138477.4(CDAN1):c.1715G>C (p.Arg572Thr)
|
|
|
NM_138477.4(CDAN1):c.1740-10T>A
|
rs886051157
|
|
NM_138477.4(CDAN1):c.1763T>C (p.Met588Thr)
|
|
|
NM_138477.4(CDAN1):c.1775G>A (p.Ser592Asn)
|
|
|
NM_138477.4(CDAN1):c.1790A>G (p.Glu597Gly)
|
rs778169314
|
|
NM_138477.4(CDAN1):c.1819G>A (p.Glu607Lys)
|
|
|
NM_138477.4(CDAN1):c.187C>T (p.Arg63Cys)
|
rs775619948
|
|
NM_138477.4(CDAN1):c.1915T>C (p.Phe639Leu)
|
rs2061603986
|
|
NM_138477.4(CDAN1):c.201G>T (p.Gln67His)
|
rs2061692835
|
|
NM_138477.4(CDAN1):c.2029C>T (p.Arg677Trp)
|
|
|
NM_138477.4(CDAN1):c.2045G>A (p.Arg682Gln)
|
|
|
NM_138477.4(CDAN1):c.2052G>A (p.Leu684=)
|
|
|
NM_138477.4(CDAN1):c.2060G>A (p.Arg687His)
|
|
|
NM_138477.4(CDAN1):c.2062C>T (p.Arg688Trp)
|
|
|
NM_138477.4(CDAN1):c.2080C>T (p.Pro694Ser)
|
rs2061599288
|
|
NM_138477.4(CDAN1):c.2110G>A (p.Asp704Asn)
|
|
|
NM_138477.4(CDAN1):c.2174+11C>T
|
rs749464836
|
|
NM_138477.4(CDAN1):c.2185T>G (p.Leu729Val)
|
|
|
NM_138477.4(CDAN1):c.2186T>C (p.Leu729Ser)
|
|
|
NM_138477.4(CDAN1):c.2194G>A (p.Glu732Lys)
|
|
|
NM_138477.4(CDAN1):c.222G>T (p.Lys74Asn)
|
|
|
NM_138477.4(CDAN1):c.226C>G (p.Pro76Ala)
|
|
|
NM_138477.4(CDAN1):c.2285T>C (p.Leu762Ser)
|
|
|
NM_138477.4(CDAN1):c.2357A>G (p.Asn786Ser)
|
|
|
NM_138477.4(CDAN1):c.2428G>A (p.Ala810Thr)
|
|
|
NM_138477.4(CDAN1):c.2428G>C (p.Ala810Pro)
|
rs747975571
|
|
NM_138477.4(CDAN1):c.2439G>A (p.Val813=)
|
rs2061577795
|
|
NM_138477.4(CDAN1):c.2464G>A (p.Gly822Ser)
|
rs1193351243
|
|
NM_138477.4(CDAN1):c.2542-3C>G
|
rs201401533
|
|
NM_138477.4(CDAN1):c.255G>A (p.Arg85=)
|
rs886051159
|
|
NM_138477.4(CDAN1):c.257C>T (p.Pro86Leu)
|
rs1442095399
|
|
NM_138477.4(CDAN1):c.2585T>C (p.Leu862Ser)
|
|
|
NM_138477.4(CDAN1):c.2590C>T (p.Arg864Trp)
|
rs746216798
|
|
NM_138477.4(CDAN1):c.2592_2596dup (p.Val866fs)
|
rs1296421769
|
|
NM_138477.4(CDAN1):c.2605G>A (p.Val869Met)
|
rs370895637
|
|
NM_138477.4(CDAN1):c.2645+2dup
|
|
|
NM_138477.4(CDAN1):c.2650A>C (p.Thr884Pro)
|
|
|
NM_138477.4(CDAN1):c.2660C>T (p.Ala887Val)
|
|
|
NM_138477.4(CDAN1):c.2672G>A (p.Arg891His)
|
|
|
NM_138477.4(CDAN1):c.274G>C (p.Gly92Arg)
|
rs1051388342
|
|
NM_138477.4(CDAN1):c.278_279delinsAT (p.Ser93Asn)
|
rs2140513573
|
|
NM_138477.4(CDAN1):c.2804A>G (p.Glu935Gly)
|
|
|
NM_138477.4(CDAN1):c.2833G>T (p.Val945Leu)
|
rs756449578
|
|
NM_138477.4(CDAN1):c.2861C>T (p.Pro954Leu)
|
|
|
NM_138477.4(CDAN1):c.2868+4C>T
|
rs749746339
|
|
NM_138477.4(CDAN1):c.2887A>G (p.Asn963Asp)
|
|
|
NM_138477.4(CDAN1):c.2893G>T (p.Ala965Ser)
|
|
|
NM_138477.4(CDAN1):c.2939A>G (p.Asn980Ser)
|
|
|
NM_138477.4(CDAN1):c.2947G>C (p.Ala983Pro)
|
|
|
NM_138477.4(CDAN1):c.2975C>T (p.Ala992Val)
|
|
|
NM_138477.4(CDAN1):c.2984G>T (p.Arg995Leu)
|
|
|
NM_138477.4(CDAN1):c.2995G>A (p.Ala999Thr)
|
|
|
NM_138477.4(CDAN1):c.3026A>G (p.Glu1009Gly)
|
|
|
NM_138477.4(CDAN1):c.3028C>G (p.Arg1010Gly)
|
|
|
NM_138477.4(CDAN1):c.3106T>C (p.Ser1036Pro)
|
|
|
NM_138477.4(CDAN1):c.3119G>A (p.Gly1040Glu)
|
|
|
NM_138477.4(CDAN1):c.3135C>A (p.Asp1045Glu)
|
rs146289653
|
|
NM_138477.4(CDAN1):c.3135C>T (p.Asp1045=)
|
rs146289653
|
|
NM_138477.4(CDAN1):c.3136G>A (p.Glu1046Lys)
|
|
|
NM_138477.4(CDAN1):c.313G>A (p.Glu105Lys)
|
|
|
NM_138477.4(CDAN1):c.3199C>T (p.Arg1067Cys)
|
|
|
NM_138477.4(CDAN1):c.3205-5C>A
|
rs772939236
|
|
NM_138477.4(CDAN1):c.3268G>A (p.Val1090Ile)
|
|
|
NM_138477.4(CDAN1):c.3299C>T (p.Pro1100Leu)
|
|
|
NM_138477.4(CDAN1):c.333C>T (p.Ala111=)
|
rs1320661924
|
|
NM_138477.4(CDAN1):c.3416A>C (p.Asn1139Thr)
|
|
|
NM_138477.4(CDAN1):c.3476G>A (p.Arg1159Gln)
|
|
|
NM_138477.4(CDAN1):c.3597T>G (p.Phe1199Leu)
|
|
|
NM_138477.4(CDAN1):c.3604G>A (p.Glu1202Lys)
|
|
|
NM_138477.4(CDAN1):c.3658C>T (p.Arg1220Trp)
|
|
|
NM_138477.4(CDAN1):c.463G>A (p.Gly155Ser)
|
|
|
NM_138477.4(CDAN1):c.494C>T (p.Thr165Met)
|
|
|
NM_138477.4(CDAN1):c.548C>T (p.Ser183Leu)
|
|
|
NM_138477.4(CDAN1):c.557C>G (p.Pro186Arg)
|
|
|
NM_138477.4(CDAN1):c.559G>A (p.Gly187Ser)
|
|
|
NM_138477.4(CDAN1):c.688G>A (p.Ala230Thr)
|
|
|
NM_138477.4(CDAN1):c.774-3T>C
|
rs756901380
|
|
NM_138477.4(CDAN1):c.779A>G (p.Lys260Arg)
|
|
|
NM_138477.4(CDAN1):c.77C>T (p.Thr26Ile)
|
|
|
NM_138477.4(CDAN1):c.791A>C (p.Gln264Pro)
|
|
|
NM_138477.4(CDAN1):c.803C>G (p.Pro268Arg)
|
|
|
NM_138477.4(CDAN1):c.844C>T (p.Arg282Trp)
|
|
|
NM_138477.4(CDAN1):c.848C>G (p.Thr283Arg)
|
rs1168958842
|
|
NM_138477.4(CDAN1):c.88G>C (p.Glu30Gln)
|
|
|
NM_138477.4(CDAN1):c.890C>A (p.Ser297Tyr)
|
|
|
NM_138636.5(TLR8):c.2498T>C (p.Phe833Ser)
|
rs997809680
|
|
NM_152633.4(FANCB):c.-70-3463_951dup
|
|
|
NM_172002.5(HSCB):c.124T>G (p.Trp42Gly)
|
|
|
NM_172002.5(HSCB):c.145G>T (p.Gly49Cys)
|
|
|
NM_172002.5(HSCB):c.296G>A (p.Arg99His)
|
|
|
NM_172351.3(CD46):c.402T>G (p.Ile134Met)
|
rs1553250568
|
|
NM_173469.4(UBE2Q2):c.884+2293G>A
|
|
|
NM_174936.3(PCSK9):c.-353G>T
|
rs886046425
|
|
NM_174936.4(PCSK9):c.*1154C>A
|
rs886046451
|
|
NM_174936.4(PCSK9):c.*1170_*1173dup
|
rs377553033
|
|
NM_174936.4(PCSK9):c.*1229G>T
|
rs886046453
|
|
NM_174936.4(PCSK9):c.*152G>T
|
rs886046438
|
|
NM_174936.4(PCSK9):c.*274C>A
|
rs886046439
|
|
NM_174936.4(PCSK9):c.*404G>A
|
rs886046440
|
|
NM_174936.4(PCSK9):c.*404G>C
|
rs886046440
|
|
NM_174936.4(PCSK9):c.*426C>A
|
rs886046441
|
|
NM_174936.4(PCSK9):c.*464C>A
|
rs886046442
|
|
NM_174936.4(PCSK9):c.*470G>A
|
rs886046443
|
|
NM_174936.4(PCSK9):c.*488C>A
|
rs886046444
|
|
NM_174936.4(PCSK9):c.*509C>A
|
rs886046445
|
|
NM_174936.4(PCSK9):c.*58A>G
|
rs886046437
|
|
NM_174936.4(PCSK9):c.*785C>A
|
rs886046448
|
|
NM_174936.4(PCSK9):c.*78C>T
|
rs757944328
|
|
NM_174936.4(PCSK9):c.*846G>T
|
rs886046449
|
|
NM_174936.4(PCSK9):c.-180T>G
|
rs886046431
|
|
NM_174936.4(PCSK9):c.-185A>G
|
rs886046430
|
|
NM_174936.4(PCSK9):c.-200C>A
|
rs886046429
|
|
NM_174936.4(PCSK9):c.-221T>G
|
rs886046428
|
|
NM_174936.4(PCSK9):c.-237T>G
|
rs886046427
|
|
NM_174936.4(PCSK9):c.1303_1304delinsTGGAACTGGTCCCCCAACTGGGTGGA (p.Val435delinsTrpAsnTrpSerProAsnTrpValGlu)
|
rs886046432
|
|
NM_182916.3(TRNT1):c.*2del (p.Ter435=)
|
rs2126038625
|
|
NM_182916.3(TRNT1):c.1010C>A (p.Thr337Lys)
|
rs1706134057
|
|
NM_182916.3(TRNT1):c.1013A>G (p.Asp338Gly)
|
|
|
NM_182916.3(TRNT1):c.1021G>A (p.Asp341Asn)
|
rs2126037069
|
|
NM_182916.3(TRNT1):c.1034C>T (p.Pro345Leu)
|
|
|
NM_182916.3(TRNT1):c.1043A>G (p.Asp348Gly)
|
rs2126037130
|
|
NM_182916.3(TRNT1):c.1051A>G (p.Ile351Val)
|
|
|
NM_182916.3(TRNT1):c.1052T>A (p.Ile351Lys)
|
rs2126037168
|
|
NM_182916.3(TRNT1):c.1056+3A>C
|
|
|
NM_182916.3(TRNT1):c.1056+6T>C
|
|
|
NM_182916.3(TRNT1):c.106G>A (p.Glu36Lys)
|
rs1480255948
|
|
NM_182916.3(TRNT1):c.1078A>G (p.Thr360Ala)
|
|
|
NM_182916.3(TRNT1):c.1078A>T (p.Thr360Ser)
|
|
|
NM_182916.3(TRNT1):c.107A>G (p.Glu36Gly)
|
rs138682354
|
|
NM_182916.3(TRNT1):c.1082G>A (p.Arg361His)
|
rs527881651
|
|
NM_182916.3(TRNT1):c.1082G>T (p.Arg361Leu)
|
rs527881651
|
|
NM_182916.3(TRNT1):c.1088G>C (p.Cys363Ser)
|
rs773206803
|
|
NM_182916.3(TRNT1):c.112C>G (p.Gln38Glu)
|
rs1704825513
|
|
NM_182916.3(TRNT1):c.1135C>G (p.Gln379Glu)
|
|
|
NM_182916.3(TRNT1):c.114G>C (p.Gln38His)
|
rs2126002222
|
|
NM_182916.3(TRNT1):c.1178T>A (p.Ile393Asn)
|
|
|
NM_182916.3(TRNT1):c.1182A>T (p.Arg394Ser)
|
rs2126038235
|
|
NM_182916.3(TRNT1):c.1183A>G (p.Lys395Glu)
|
rs2126038239
|
|
NM_182916.3(TRNT1):c.1187T>C (p.Val396Ala)
|
|
|
NM_182916.3(TRNT1):c.118C>G (p.Leu40Val)
|
rs908960894
|
|
NM_182916.3(TRNT1):c.1205A>G (p.Lys402Arg)
|
|
|
NM_182916.3(TRNT1):c.1211T>C (p.Ile404Thr)
|
rs1706181879
|
|
NM_182916.3(TRNT1):c.1213G>A (p.Gly405Arg)
|
|
|
NM_182916.3(TRNT1):c.1213G>C (p.Gly405Arg)
|
|
|
NM_182916.3(TRNT1):c.1223T>C (p.Leu408Ser)
|
|
|
NM_182916.3(TRNT1):c.1224ACA[3] (p.Gln410dup)
|
rs2126038336
|
|
NM_182916.3(TRNT1):c.1225C>G (p.Gln409Glu)
|
|
|
NM_182916.3(TRNT1):c.1237G>A (p.Glu413Lys)
|
|
|
NM_182916.3(TRNT1):c.1240C>G (p.Gln414Glu)
|
rs764603508
|
|
NM_182916.3(TRNT1):c.1247A>G (p.Lys416Arg)
|
rs2126038415
|
|
NM_182916.3(TRNT1):c.1249A>G (p.Lys417Glu)
|
rs751047325
|
|
NM_182916.3(TRNT1):c.1260C>A (p.Tyr420Ter)
|
|
|
NM_182916.3(TRNT1):c.1269A>C (p.Glu423Asp)
|
rs777580759
|
|
NM_182916.3(TRNT1):c.1274A>G (p.Asp425Gly)
|
rs146766859
|
|
NM_182916.3(TRNT1):c.1274A>T (p.Asp425Val)
|
rs146766859
|
|
NM_182916.3(TRNT1):c.1276G>C (p.Glu426Gln)
|
|
|
NM_182916.3(TRNT1):c.1281_1283dup (p.Leu428_Ser429insLeu)
|
|
|
NM_182916.3(TRNT1):c.1283T>C (p.Leu428Pro)
|
rs2126038533
|
|
NM_182916.3(TRNT1):c.1284_1287dup (p.Tyr430fs)
|
rs1559232394
|
|
NM_182916.3(TRNT1):c.1286G>T (p.Ser429Ile)
|
rs2126038555
|
|
NM_182916.3(TRNT1):c.1290_1291insTTTAA (p.Ile431fs)
|
|
|
NM_182916.3(TRNT1):c.1291A>G (p.Ile431Val)
|
rs142642881
|
|
NM_182916.3(TRNT1):c.1295AGA[1] (p.Lys433del)
|
rs1575068543
|
|
NM_182916.3(TRNT1):c.1296G>T (p.Lys432Asn)
|
|
|
NM_182916.3(TRNT1):c.12C>T (p.Cys4=)
|
|
|
NM_182916.3(TRNT1):c.1300A>T (p.Thr434Ser)
|
|
|
NM_182916.3(TRNT1):c.140_141delinsTC (p.Ser47Ile)
|
|
|
NM_182916.3(TRNT1):c.148+3G>A
|
rs1575035691
|
|
NM_182916.3(TRNT1):c.149-6_149-2del
|
|
|
NM_182916.3(TRNT1):c.151T>A (p.Leu51Ile)
|
|
|
NM_182916.3(TRNT1):c.155T>C (p.Phe52Ser)
|
rs1705383984
|
|
NM_182916.3(TRNT1):c.165G>T (p.Glu55Asp)
|
|
|
NM_182916.3(TRNT1):c.171C>A (p.His57Gln)
|
rs760080058
|
|
NM_182916.3(TRNT1):c.179G>C (p.Arg60Thr)
|
|
|
NM_182916.3(TRNT1):c.179G>T (p.Arg60Ile)
|
rs1283386278
|
|
NM_182916.3(TRNT1):c.182T>G (p.Ile61Arg)
|
rs2126017364
|
|
NM_182916.3(TRNT1):c.185C>G (p.Ala62Gly)
|
rs1430870230
|
|
NM_182916.3(TRNT1):c.208T>G (p.Leu70Val)
|
rs1705387323
|
|
NM_182916.3(TRNT1):c.212A>G (p.Asn71Ser)
|
|
|
NM_182916.3(TRNT1):c.215G>C (p.Gly72Ala)
|
rs1267775202
|
|
NM_182916.3(TRNT1):c.233T>C (p.Ile78Thr)
|
rs1553553306
|
|
NM_182916.3(TRNT1):c.234A>G (p.Ile78Met)
|
rs2126017445
|
|
NM_182916.3(TRNT1):c.250G>C (p.Ala84Pro)
|
rs781277263
|
|
NM_182916.3(TRNT1):c.264A>G (p.Gln88=)
|
rs1705392118
|
|
NM_182916.3(TRNT1):c.277T>A (p.Phe93Ile)
|
rs2126017533
|
|
NM_182916.3(TRNT1):c.27C>G (p.His9Gln)
|
|
|
NM_182916.3(TRNT1):c.282G>T (p.Gln94His)
|
rs527886866
|
|
NM_182916.3(TRNT1):c.293T>G (p.Ile98Ser)
|
|
|
NM_182916.3(TRNT1):c.296G>A (p.Arg99Gln)
|
rs1392135239
|
|
NM_182916.3(TRNT1):c.31C>T (p.Pro11Ser)
|
|
|
NM_182916.3(TRNT1):c.335C>G (p.Thr112Ser)
|
|
|
NM_182916.3(TRNT1):c.342+20G>C
|
|
|
NM_182916.3(TRNT1):c.343-69_343-8del
|
|
|
NM_182916.3(TRNT1):c.348T>G (p.His116Gln)
|
rs1705578519
|
|
NM_182916.3(TRNT1):c.361G>A (p.Glu121Lys)
|
rs2126022941
|
|
NM_182916.3(TRNT1):c.368C>G (p.Thr123Ser)
|
rs1278148249
|
|
NM_182916.3(TRNT1):c.389C>G (p.Thr130Ser)
|
rs1705581594
|
|
NM_182916.3(TRNT1):c.391A>G (p.Thr131Ala)
|
|
|
NM_182916.3(TRNT1):c.395A>C (p.Asp132Ala)
|
rs773948765
|
|
NM_182916.3(TRNT1):c.398G>T (p.Gly133Val)
|
rs759253937
|
|
NM_182916.3(TRNT1):c.403C>T (p.His135Tyr)
|
rs752478909
|
|
NM_182916.3(TRNT1):c.410A>C (p.Glu137Ala)
|
rs1705583571
|
|
NM_182916.3(TRNT1):c.412G>A (p.Val138Ile)
|
rs907649149
|
|
NM_182916.3(TRNT1):c.422C>T (p.Thr141Ile)
|
rs1276258304
|
|
NM_182916.3(TRNT1):c.435G>T (p.Gln145His)
|
|
|
NM_182916.3(TRNT1):c.443C>G (p.Ala148Gly)
|
|
|
NM_182916.3(TRNT1):c.443C>T (p.Ala148Val)
|
rs761516140
|
|
NM_182916.3(TRNT1):c.460A>C (p.Thr154Pro)
|
rs1233701431
|
|
NM_182916.3(TRNT1):c.472A>G (p.Met158Val)
|
rs771781629
|
|
NM_182916.3(TRNT1):c.481+4A>G
|
|
|
NM_182916.3(TRNT1):c.481+5T>C
|
rs761643814
|
|
NM_182916.3(TRNT1):c.482-4A>G
|
|
|
NM_182916.3(TRNT1):c.482-8A>G
|
rs1375077738
|
|
NM_182916.3(TRNT1):c.484T>C (p.Phe162Leu)
|
rs965848707
|
|
NM_182916.3(TRNT1):c.499T>C (p.Phe167Leu)
|
rs2126031119
|
|
NM_182916.3(TRNT1):c.502G>C (p.Asp168His)
|
rs746543080
|
|
NM_182916.3(TRNT1):c.509T>C (p.Phe170Ser)
|
|
|
NM_182916.3(TRNT1):c.510T>A (p.Phe170Leu)
|
rs371733557
|
|
NM_182916.3(TRNT1):c.530A>G (p.Lys177Arg)
|
rs1705869749
|
|
NM_182916.3(TRNT1):c.545G>A (p.Arg182Lys)
|
|
|
NM_182916.3(TRNT1):c.545G>C (p.Arg182Thr)
|
|
|
NM_182916.3(TRNT1):c.550G>A (p.Val184Ile)
|
rs1705871121
|
|
NM_182916.3(TRNT1):c.556C>T (p.His186Tyr)
|
|
|
NM_182916.3(TRNT1):c.578A>G (p.Glu193Gly)
|
|
|
NM_182916.3(TRNT1):c.581A>G (p.Asp194Gly)
|
rs754316396
|
|
NM_182916.3(TRNT1):c.586C>G (p.Leu196Val)
|
|
|
NM_182916.3(TRNT1):c.592A>C (p.Ile198Leu)
|
rs757780903
|
|
NM_182916.3(TRNT1):c.59T>C (p.Leu20Pro)
|
rs1704816332
|
|
NM_182916.3(TRNT1):c.608+6A>G
|
rs747803738
|
|
NM_182916.3(TRNT1):c.608+6A>T
|
rs747803738
|
|
NM_182916.3(TRNT1):c.609G>A (p.Arg203=)
|
rs1706023403
|
|
NM_182916.3(TRNT1):c.611T>G (p.Phe204Cys)
|
rs1706023542
|
|
NM_182916.3(TRNT1):c.624T>G (p.Ile208Met)
|
rs367981406
|
|
NM_182916.3(TRNT1):c.631A>C (p.Lys211Gln)
|
rs372027157
|
|
NM_182916.3(TRNT1):c.632A>G (p.Lys211Arg)
|
|
|
NM_182916.3(TRNT1):c.638G>T (p.Gly213Val)
|
rs745817126
|
|
NM_182916.3(TRNT1):c.640G>A (p.Asp214Asn)
|
|
|
NM_182916.3(TRNT1):c.647A>G (p.Asp216Gly)
|
rs2126034760
|
|
NM_182916.3(TRNT1):c.649C>T (p.Pro217Ser)
|
rs775586520
|
|
NM_182916.3(TRNT1):c.64C>T (p.Leu22Phe)
|
rs965646183
|
|
NM_182916.3(TRNT1):c.669T>G (p.Ile223Met)
|
rs2126034798
|
|
NM_182916.3(TRNT1):c.671C>T (p.Ala224Val)
|
rs2126034803
|
|
NM_182916.3(TRNT1):c.679G>T (p.Ala227Ser)
|
rs2126034812
|
|
NM_182916.3(TRNT1):c.686G>A (p.Gly229Asp)
|
rs773514953
|
|
NM_182916.3(TRNT1):c.686G>C (p.Gly229Ala)
|
rs773514953
|
|
NM_182916.3(TRNT1):c.692C>G (p.Ala231Gly)
|
rs1428349978
|
|
NM_182916.3(TRNT1):c.700T>G (p.Ser234Ala)
|
rs763684893
|
|
NM_182916.3(TRNT1):c.710G>A (p.Arg237Lys)
|
rs2126034891
|
|
NM_182916.3(TRNT1):c.724C>G (p.Leu242Val)
|
rs1022234414
|
|
NM_182916.3(TRNT1):c.736C>T (p.Leu246Phe)
|
rs1575064652
|
|
NM_182916.3(TRNT1):c.739G>T (p.Val247Phe)
|
rs1456113852
|
|
NM_182916.3(TRNT1):c.73C>A (p.Gln25Lys)
|
|
|
NM_182916.3(TRNT1):c.742G>A (p.Gly248Ser)
|
|
|
NM_182916.3(TRNT1):c.74A>G (p.Gln25Arg)
|
|
|
NM_182916.3(TRNT1):c.75G>T (p.Gln25His)
|
rs754086954
|
|
NM_182916.3(TRNT1):c.766C>A (p.His256Asn)
|
|
|
NM_182916.3(TRNT1):c.772A>G (p.Ile258Val)
|
rs769964961
|
|
NM_182916.3(TRNT1):c.774C>G (p.Ile258Met)
|
|
|
NM_182916.3(TRNT1):c.776A>G (p.Tyr259Cys)
|
|
|
NM_182916.3(TRNT1):c.779A>G (p.Asp260Gly)
|
rs1706037095
|
|
NM_182916.3(TRNT1):c.791C>G (p.Ala264Gly)
|
|
|
NM_182916.3(TRNT1):c.79C>G (p.Leu27Val)
|
|
|
NM_182916.3(TRNT1):c.800T>C (p.Ile267Thr)
|
|
|
NM_182916.3(TRNT1):c.802+5G>C
|
|
|
NM_182916.3(TRNT1):c.802+6A>G
|
rs1706039327
|
|
NM_182916.3(TRNT1):c.811G>A (p.Ala271Thr)
|
rs1553555777
|
|
NM_182916.3(TRNT1):c.815A>T (p.Asn272Ile)
|
rs2126036638
|
|
NM_182916.3(TRNT1):c.820A>C (p.Ser274Arg)
|
rs1446360172
|
|
NM_182916.3(TRNT1):c.824T>C (p.Leu275Ser)
|
|
|
NM_182916.3(TRNT1):c.854T>C (p.Val285Ala)
|
|
|
NM_182916.3(TRNT1):c.856G>A (p.Asp286Asn)
|
|
|
NM_182916.3(TRNT1):c.857A>G (p.Asp286Gly)
|
|
|
NM_182916.3(TRNT1):c.883C>G (p.Leu295Val)
|
rs2126036773
|
|
NM_182916.3(TRNT1):c.895T>A (p.Leu299Ile)
|
|
|
NM_182916.3(TRNT1):c.898T>G (p.Phe300Val)
|
rs1706126293
|
|
NM_182916.3(TRNT1):c.907C>G (p.Gln303Glu)
|
rs1706127064
|
|
NM_182916.3(TRNT1):c.909A>C (p.Gln303His)
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|
|
NM_182916.3(TRNT1):c.925T>G (p.Leu309Val)
|
rs985101465
|
|
NM_182916.3(TRNT1):c.928G>T (p.Asp310Tyr)
|
rs2126036850
|
|
NM_182916.3(TRNT1):c.939G>T (p.Leu313Phe)
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|
|
NM_182916.3(TRNT1):c.943A>G (p.Ile315Val)
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|
|
NM_182916.3(TRNT1):c.947_948inv (p.Ala316Val)
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|
|
NM_182916.3(TRNT1):c.948_949delinsGG (p.Lys317Glu)
|
rs1706130150
|
|
NM_182916.3(TRNT1):c.968G>A (p.Gly323Asp)
|
rs2126036942
|
|
NM_182916.3(TRNT1):c.970T>G (p.Leu324Val)
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|
|
NM_182916.3(TRNT1):c.989G>A (p.Arg330Lys)
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NM_182916.3(TRNT1):c.993A>T (p.Lys331Asn)
|
rs1706133107
|
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NM_182916.3(TRNT1):c.994G>C (p.Asp332His)
|
rs1553555848
|
|
NM_182922.4(HEATR3):c.1253T>A (p.Val418Asp)
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|
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NM_182922.4(HEATR3):c.1397C>T (p.Ala466Val)
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|
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NM_182922.4(HEATR3):c.239C>T (p.Ala80Val)
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NM_198253.3(TERT):c.*308A>G
|
rs1747469600
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NM_198253.3(TERT):c.1070C>G (p.Ala357Gly)
|
rs1751166833
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|
NM_198253.3(TERT):c.124G>C (p.Gly42Arg)
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rs1751293669
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NM_198253.3(TERT):c.1269C>T (p.Ala423=)
|
rs190411812
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NM_198253.3(TERT):c.1304T>A (p.Val435Glu)
|
rs1561213530
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|
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del)
|
rs377639087
|
|
NM_198253.3(TERT):c.1401C>T (p.Ala467=)
|
rs1751126189
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|
NM_198253.3(TERT):c.1562G>T (p.Arg521Leu)
|
rs1060503002
|
|
NM_198253.3(TERT):c.2003A>C (p.Glu668Ala)
|
rs1749859084
|
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NM_198253.3(TERT):c.2072G>A (p.Arg691His)
|
rs202123213
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NM_198253.3(TERT):c.2152G>A (p.Asp718Asn)
|
rs1579574994
|
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NM_198253.3(TERT):c.2221G>A (p.Val741Met)
|
rs150819225
|
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NM_198253.3(TERT):c.2398G>A (p.Glu800Lys)
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|
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NM_198253.3(TERT):c.2523C>G (p.Leu841=)
|
rs1554039733
|
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NM_198253.3(TERT):c.2626C>A (p.His876Asn)
|
rs1483412488
|
|
NM_198253.3(TERT):c.2959C>G (p.Leu987Val)
|
rs1748147415
|
|
NM_198253.3(TERT):c.307_308delinsGG (p.Leu103Gly)
|
rs1751266537
|
|
NM_198253.3(TERT):c.3191C>T (p.Pro1064Leu)
|
rs886059831
|
|
NM_198253.3(TERT):c.3334C>A (p.Leu1112Met)
|
rs1579541689
|
|
NM_198253.3(TERT):c.483G>C (p.Leu161=)
|
rs755155708
|
|
NM_198253.3(TERT):c.663G>T (p.Ala221=)
|
rs35837567
|
|
NM_198253.3(TERT):c.696G>T (p.Leu232=)
|
rs1033402019
|
|
NM_198253.3(TERT):c.764C>A (p.Ser255Tyr)
|
rs1751207450
|
|
NM_198253.3(TERT):c.847A>C (p.Thr283Pro)
|
rs1295657479
|
|
NM_198253.3(TERT):c.875C>G (p.Thr292Arg)
|
rs1751193051
|
|
NM_198253.3(TERT):c.902G>A (p.Arg301His)
|
rs1268051204
|
|
NM_198253.3(TERT):c.908A>T (p.His303Leu)
|
rs1751187792
|
|
NM_198535.3(ZNF699):c.175+1G>A
|
rs749115647
|
|
NM_206965.2(FTCD):c.1016C>A (p.Ser339Tyr)
|
rs775567630
|
|
NM_206965.2(FTCD):c.1076T>G (p.Val359Gly)
|
|
|
NM_206965.2(FTCD):c.1077GGC[2] (p.Ala365del)
|
rs780057373
|
|
NM_206965.2(FTCD):c.1078G>A (p.Ala360Thr)
|
|
|
NM_206965.2(FTCD):c.1097T>C (p.Met366Thr)
|
|
|
NM_206965.2(FTCD):c.1103C>T (p.Ala368Val)
|
rs1033001525
|
|
NM_206965.2(FTCD):c.1138G>A (p.Gly380Arg)
|
|
|
NM_206965.2(FTCD):c.1234G>A (p.Asp412Asn)
|
|
|
NM_206965.2(FTCD):c.1252G>A (p.Ala418Thr)
|
|
|
NM_206965.2(FTCD):c.1293G>C (p.Glu431Asp)
|
rs769728202
|
|
NM_206965.2(FTCD):c.1311GGC[1] (p.Ala439del)
|
rs2123482286
|
|
NM_206965.2(FTCD):c.1312G>A (p.Ala438Thr)
|
rs1162672679
|
|
NM_206965.2(FTCD):c.1391_1392delinsTG (p.Ala464Val)
|
rs2123481486
|
|
NM_206965.2(FTCD):c.140C>G (p.Thr47Ser)
|
|
|
NM_206965.2(FTCD):c.1465A>T (p.Met489Leu)
|
|
|
NM_206965.2(FTCD):c.1514T>C (p.Ile505Thr)
|
|
|
NM_206965.2(FTCD):c.151T>G (p.Phe51Val)
|
|
|
NM_206965.2(FTCD):c.1521C>G (p.Asp507Glu)
|
rs141582814
|
|
NM_206965.2(FTCD):c.1522G>A (p.Glu508Lys)
|
|
|
NM_206965.2(FTCD):c.1539+4_1539+11del
|
rs755855475
|
|
NM_206965.2(FTCD):c.1540-17_1540-16del
|
rs747091513
|
|
NM_206965.2(FTCD):c.1574C>T (p.Ala525Val)
|
|
|
NM_206965.2(FTCD):c.1591C>A (p.Leu531Met)
|
|
|
NM_206965.2(FTCD):c.1615C>T (p.Arg539Trp)
|
rs756994444
|
|
NM_206965.2(FTCD):c.176T>G (p.Val59Gly)
|
|
|
NM_206965.2(FTCD):c.214C>T (p.Leu72Phe)
|
rs1378684756
|
|
NM_206965.2(FTCD):c.220G>A (p.Asp74Asn)
|
|
|
NM_206965.2(FTCD):c.224T>C (p.Met75Thr)
|
rs2123584379
|
|
NM_206965.2(FTCD):c.266A>G (p.Asp89Gly)
|
|
|
NM_206965.2(FTCD):c.322G>A (p.Ala108Thr)
|
|
|
NM_206965.2(FTCD):c.367+6C>T
|
|
|
NM_206965.2(FTCD):c.379G>A (p.Gly127Ser)
|
rs766010122
|
|
NM_206965.2(FTCD):c.418G>C (p.Ala140Pro)
|
|
|
NM_206965.2(FTCD):c.468C>T (p.Ala156=)
|
|
|
NM_206965.2(FTCD):c.469G>A (p.Asp157Asn)
|
rs532226691
|
|
NM_206965.2(FTCD):c.530G>A (p.Gly177Glu)
|
rs760709342
|
|
NM_206965.2(FTCD):c.610C>T (p.Arg204Trp)
|
|
|
NM_206965.2(FTCD):c.636+5C>T
|
|
|
NM_206965.2(FTCD):c.64G>A (p.Ala22Thr)
|
|
|
NM_206965.2(FTCD):c.661G>A (p.Gly221Ser)
|
|
|
NM_206965.2(FTCD):c.712C>A (p.Leu238Ile)
|
|
|
NM_206965.2(FTCD):c.766_767del (p.Glu256fs)
|
rs1568979227
|
|
NM_206965.2(FTCD):c.862_864del (p.Lys288del)
|
rs1321726682
|
|
NM_206965.2(FTCD):c.896G>C (p.Arg299Pro)
|
rs119469015
|
|
NM_206965.2(FTCD):c.984G>C (p.Glu328Asp)
|
rs982953507
|
|
NM_206965.2(FTCD):c.997del (p.Arg333fs)
|
rs1568974130
|
|
Single allele
|
|
|