NM_006947.4(SRP72):c.*606A>T
|
rs868279024
|
0.05397
|
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_003126.4(SPTA1):c.3037-14T>C
|
rs142102801
|
0.00723
|
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_022725.4(FANCF):c.*1879T>C
|
rs45553340
|
0.00575
|
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_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_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_000289.6(PFKM):c.*411G>A
|
rs79507126
|
0.00345
|
NM_000373.4(UMPS):c.*868del
|
rs570945751
|
0.00329
|
NM_022725.4(FANCF):c.*708C>T
|
rs61889392
|
0.00321
|
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_032043.3(BRIP1):c.*128A>G
|
rs150444311
|
0.00277
|
NM_001243177.4(ALDOA):c.*136C>T
|
rs191226606
|
0.00274
|
NM_000298.6(PKLR):c.829G>A (p.Glu277Lys)
|
rs147689373
|
0.00269
|
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_080669.6(SLC46A1):c.*4729del
|
rs559270240
|
0.00232
|
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser)
|
rs139235751
|
0.00230
|
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_021922.3(FANCE):c.253C>T (p.Pro85Ser)
|
rs145068586
|
0.00212
|
NM_001386140.1(MTTP):c.*382T>C
|
rs556994625
|
0.00210
|
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_000355.4(TCN2):c.64+11C>T
|
rs141519384
|
0.00203
|
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_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_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_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_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_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_000355.4(TCN2):c.138C>T (p.Ser46=)
|
rs143250551
|
0.00148
|
NM_005142.3(CBLIF):c.154T>A (p.Tyr52Asn)
|
rs144916324
|
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_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
|
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_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_001113378.2(FANCI):c.3660T>C (p.Ser1220=)
|
rs116380142
|
0.00131
|
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_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_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_000617.3(SLC11A2):c.197G>A (p.Ser66Asn)
|
rs141728916
|
0.00118
|
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_001374504.1(TMPRSS6):c.838G>T (p.Val280Leu)
|
rs201148397
|
0.00114
|
NM_003126.4(SPTA1):c.192T>A (p.Asp64Glu)
|
rs200860772
|
0.00114
|
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_003126.4(SPTA1):c.174C>T (p.Phe58=)
|
rs190704778
|
0.00110
|
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_000037.4(ANK1):c.1387G>A (p.Val463Ile)
|
rs140085544
|
0.00105
|
NM_001081.4(CUBN):c.7509G>A (p.Pro2503=)
|
rs201001705
|
0.00105
|
NM_032043.3(BRIP1):c.790C>T (p.Arg264Trp)
|
rs28997569
|
0.00104
|
NM_001018115.3(FANCD2):c.491+10G>A
|
rs17032279
|
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_080669.6(SLC46A1):c.*1839G>A
|
rs41297917
|
0.00101
|
NM_000096.3(CP):c.-183T>C
|
rs185578646
|
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.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_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_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_001374504.1(TMPRSS6):c.183G>A (p.Val61=)
|
rs150521260
|
0.00086
|
NM_006996.3(SLC19A2):c.1014C>G (p.Ala338=)
|
rs143780369
|
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_001113378.2(FANCI):c.1491A>G (p.Gln497=)
|
rs145349375
|
0.00083
|
NM_198253.3(TERT):c.1849C>T (p.Leu617=)
|
rs140951453
|
0.00083
|
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_080669.6(SLC46A1):c.972C>T (p.Leu324=)
|
rs188529539
|
0.00081
|
NM_001018115.3(FANCD2):c.1656+14T>A
|
rs200473919
|
0.00080
|
NM_080669.6(SLC46A1):c.*835A>G
|
rs181698246
|
0.00080
|
NM_000384.3(APOB):c.1470+15T>C
|
rs185550846
|
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_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_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_000059.4(BRCA2):c.1151C>T (p.Ser384Phe)
|
rs41293475
|
0.00074
|
NM_000373.4(UMPS):c.827G>A (p.Ser276Asn)
|
rs140804035
|
0.00074
|
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_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.8399C>T (p.Thr2800Ile)
|
rs141737312
|
0.00070
|
NM_001114134.2(EPB42):c.10+60C>T
|
rs144428415
|
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_003126.4(SPTA1):c.4862T>A (p.Phe1621Tyr)
|
rs374298000
|
0.00068
|
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_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_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_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_001374504.1(TMPRSS6):c.1687G>A (p.Gly563Ser)
|
rs148129773
|
0.00058
|
NM_024675.4(PALB2):c.2851T>C (p.Ser951Pro)
|
rs149522412
|
0.00058
|
NM_000135.4(FANCA):c.3514-13G>A
|
rs200270574
|
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_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_174936.4(PCSK9):c.847C>A (p.Leu283Met)
|
rs72646510
|
0.00055
|
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_032043.3(BRIP1):c.*2667C>T
|
rs373156872
|
0.00053
|
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_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_006363.5(SEC23B):c.-76G>C
|
rs373348732
|
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_003126.4(SPTA1):c.3960C>T (p.Asp1320=)
|
rs186415745
|
0.00049
|
NM_018368.4(LMBRD1):c.-103A>G
|
rs369575833
|
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_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_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_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_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_022725.4(FANCF):c.633G>T (p.Gln211His)
|
rs146975768
|
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_001386140.1(MTTP):c.502-12C>T
|
rs200628118
|
0.00044
|
NM_032444.4(SLX4):c.1707G>A (p.Pro569=)
|
rs141687678
|
0.00044
|
NM_138477.4(CDAN1):c.2805-11T>A
|
rs200767055
|
0.00044
|
NM_000289.6(PFKM):c.*622G>A
|
rs568063197
|
0.00043
|
NM_001063.4(TF):c.43+8C>A
|
rs368521553
|
0.00043
|
NM_000096.4(CP):c.2446G>A (p.Val816Ile)
|
rs139058165
|
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_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_003126.4(SPTA1):c.3829C>T (p.Arg1277Cys)
|
rs143642542
|
0.00041
|
NM_003126.4(SPTA1):c.6896G>T (p.Cys2299Phe)
|
rs201514157
|
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.519G>A (p.Val173=)
|
rs138314893
|
0.00040
|
NM_006996.3(SLC19A2):c.*51C>G
|
rs376279404
|
0.00040
|
NM_000136.3(FANCC):c.*2296G>A
|
rs561975553
|
0.00039
|
NM_001018115.3(FANCD2):c.4281+355A>G
|
rs770674504
|
0.00039
|
NM_001386140.1(MTTP):c.394-7C>T
|
rs368989581
|
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_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_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_032444.4(SLX4):c.231A>G (p.Gln77=)
|
rs143279888
|
0.00038
|
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_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_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_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_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_021922.3(FANCE):c.-105C>T
|
rs886061326
|
0.00035
|
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.6091A>G (p.Thr2031Ala)
|
rs150392211
|
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_080669.6(SLC46A1):c.*4418C>T
|
rs184621509
|
0.00034
|
NM_001081.4(CUBN):c.5429G>A (p.Arg1810Gln)
|
rs149622438
|
0.00033
|
NM_003126.4(SPTA1):c.3477+10G>C
|
rs201932894
|
0.00033
|
NM_017875.4(SLC25A38):c.456+10A>G
|
rs368989667
|
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_000375.3(UROS):c.*99A>G
|
rs886046814
|
0.00032
|
NM_000617.3(SLC11A2):c.1425C>T (p.Gly475=)
|
rs139057918
|
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_021922.3(FANCE):c.1018G>C (p.Gly340Arg)
|
rs45524646
|
0.00032
|
NM_000059.4(BRCA2):c.*854T>C
|
rs572993583
|
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_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_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_138477.4(CDAN1):c.*223G>C
|
rs568387944
|
0.00031
|
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_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_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_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_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_017875.4(SLC25A38):c.-69C>T
|
rs886058470
|
0.00029
|
NM_032043.3(BRIP1):c.-237dup
|
rs112243287
|
0.00029
|
NM_032444.4(SLX4):c.*311G>A
|
rs749668095
|
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_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_001113378.2(FANCI):c.528A>G (p.Gln176=)
|
rs145939211
|
0.00027
|
NM_003126.4(SPTA1):c.1266C>T (p.Tyr422=)
|
rs369020197
|
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_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_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.903C>T (p.Tyr301=)
|
rs146036025
|
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_001114134.2(EPB42):c.1032T>C (p.Asp344=)
|
rs150481419
|
0.00026
|
NM_003126.4(SPTA1):c.4240C>T (p.Arg1414Cys)
|
rs201399968
|
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_000135.4(FANCA):c.2799A>G (p.Leu933=)
|
rs148250597
|
0.00025
|
NM_006947.4(SRP72):c.*624A>G
|
rs867685822
|
0.00025
|
NM_017875.4(SLC25A38):c.-225G>A
|
rs370977005
|
0.00025
|
NM_025215.6(PUS1):c.*164C>T
|
rs554815640
|
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_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_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_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_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_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.2088G>A (p.Leu696=)
|
rs148759214
|
0.00023
|
NM_138477.4(CDAN1):c.2837G>A (p.Arg946Gln)
|
rs142833783
|
0.00023
|
NM_000059.4(BRCA2):c.9502-12T>G
|
rs81002803
|
0.00022
|
NM_000135.4(FANCA):c.*146C>T
|
rs556325258
|
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_006947.4(SRP72):c.*1385A>G
|
rs754461786
|
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_000037.4(ANK1):c.*32G>A
|
rs117166178
|
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.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.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_003126.4(SPTA1):c.6851A>G (p.Asp2284Gly)
|
rs374589766
|
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_000037.4(ANK1):c.*385G>T
|
rs1343502294
|
0.00020
|
NM_000037.4(ANK1):c.2096G>A (p.Arg699Gln)
|
rs150032875
|
0.00020
|
NM_001063.4(TF):c.281A>G (p.Asn94Ser)
|
rs200551981
|
0.00020
|
NM_001113378.2(FANCI):c.1052A>T (p.Gln351Leu)
|
rs147873714
|
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_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_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_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.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.1399G>A (p.Val467Ile)
|
rs199726965
|
0.00019
|
NM_001113378.2(FANCI):c.1963G>A (p.Gly655Arg)
|
rs138026584
|
0.00019
|
NM_001113378.2(FANCI):c.467G>A (p.Cys156Tyr)
|
rs112387610
|
0.00019
|
NM_001243177.4(ALDOA):c.1068C>T (p.Tyr356=)
|
rs200761497
|
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_005142.3(CBLIF):c.26T>C (p.Leu9Pro)
|
rs146699265
|
0.00019
|
NM_006996.3(SLC19A2):c.*638G>A
|
rs757466309
|
0.00019
|
NM_021922.3(FANCE):c.-197C>T
|
rs45570533
|
0.00019
|
NM_021922.3(FANCE):c.-19G>C
|
rs13215706
|
0.00019
|
NM_032043.3(BRIP1):c.36G>T (p.Gly12=)
|
rs45566938
|
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.1829A>G (p.Gln610Arg)
|
rs544935776
|
0.00019
|
NM_080669.6(SLC46A1):c.*4071G>A
|
rs908290461
|
0.00019
|
NM_174936.4(PCSK9):c.996+8del
|
rs768213924
|
0.00019
|
NM_000373.4(UMPS):c.*4116G>A
|
rs886057894
|
0.00018
|
NM_001081.4(CUBN):c.349-9T>C
|
rs375431948
|
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_003126.4(SPTA1):c.345G>A (p.Arg115=)
|
rs200343758
|
0.00018
|
NM_003126.4(SPTA1):c.957+7C>T
|
rs369937649
|
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_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.874C>G (p.His292Asp)
|
rs200220791
|
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_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_021922.3(FANCE):c.-167C>T
|
rs911947663
|
0.00017
|
NM_025215.6(PUS1):c.*120G>A
|
rs569395844
|
0.00017
|
NM_032444.4(SLX4):c.537G>T (p.Glu179Asp)
|
rs758789462
|
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.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_000342.4(SLC4A1):c.*544C>T
|
rs910311843
|
0.00016
|
NM_000342.4(SLC4A1):c.1671G>A (p.Val557=)
|
rs147838240
|
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_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.4740G>A (p.Thr1580=)
|
rs200115233
|
0.00016
|
NM_001113378.2(FANCI):c.1939T>C (p.Leu647=)
|
rs150231327
|
0.00016
|
NM_001374504.1(TMPRSS6):c.2374G>A (p.Gly792Ser)
|
rs140207191
|
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.452G>A (p.Gly151Asp)
|
rs199725919
|
0.00016
|
NM_006363.6(SEC23B):c.1527G>A (p.Gln509=)
|
rs201943863
|
0.00016
|
NM_025215.6(PUS1):c.*122C>T
|
rs747836180
|
0.00016
|
NM_032444.4(SLX4):c.3940C>A (p.Gln1314Lys)
|
rs142040192
|
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_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_001081.4(CUBN):c.*162G>A
|
rs558891678
|
0.00015
|
NM_001081.4(CUBN):c.10076C>T (p.Ser3359Leu)
|
rs140566726
|
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_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_000136.3(FANCC):c.*249C>T
|
rs1046795121
|
0.00014
|
NM_000298.6(PKLR):c.*735A>G
|
rs180944719
|
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.9035C>T (p.Pro3012Leu)
|
rs143741363
|
0.00014
|
NM_001081.4(CUBN):c.9418G>A (p.Ala3140Thr)
|
rs148491916
|
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_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_006996.3(SLC19A2):c.688A>T (p.Ile230Phe)
|
rs770374931
|
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_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.3637C>G (p.Pro1213Ala)
|
rs200713354
|
0.00013
|
NM_000298.6(PKLR):c.1468C>T (p.Arg490Trp)
|
rs200133000
|
0.00013
|
NM_000342.4(SLC4A1):c.876+14G>A
|
rs571092411
|
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_001040436.3(YARS2):c.934G>C (p.Asp312His)
|
rs190043383
|
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_001374504.1(TMPRSS6):c.1338G>A (p.Ser446=)
|
rs776737568
|
0.00013
|
NM_004629.2(FANCG):c.-56G>A
|
rs967151809
|
0.00013
|
NM_015702.3(MMADHC):c.-60G>A
|
rs886054923
|
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_021922.3(FANCE):c.-100C>T
|
rs374493565
|
0.00013
|
NM_021922.3(FANCE):c.274C>T (p.Arg92Trp)
|
rs375195621
|
0.00013
|
NM_022725.4(FANCF):c.*2074A>G
|
rs576419372
|
0.00013
|
NM_032444.4(SLX4):c.*578G>A
|
rs781322530
|
0.00013
|
NM_000059.4(BRCA2):c.1889C>T (p.Thr630Ile)
|
rs80358479
|
0.00012
|
NM_000135.4(FANCA):c.4261-9C>G
|
rs368506826
|
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_001113378.2(FANCI):c.2646A>G (p.Leu882=)
|
rs199627578
|
0.00012
|
NM_001114636.1(FANCL):c.-35C>T
|
rs368688452
|
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_006363.6(SEC23B):c.*494T>C
|
rs561479544
|
0.00012
|
NM_006363.6(SEC23B):c.2031G>A (p.Met677Ile)
|
rs202187007
|
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_032444.4(SLX4):c.2235C>T (p.Thr745=)
|
rs75184268
|
0.00012
|
NM_032444.4(SLX4):c.398C>T (p.Pro133Leu)
|
rs373586019
|
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_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.3006C>T (p.Ser1002=)
|
rs199877380
|
0.00011
|
NM_000096.4(CP):c.782-3C>T
|
rs375191868
|
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.817G>A (p.Glu273Lys)
|
rs143181565
|
0.00011
|
NM_000289.6(PFKM):c.*3C>T
|
rs367783282
|
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_001018113.3(FANCB):c.*151A>G
|
rs1480015600
|
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_001114134.2(EPB42):c.1636G>A (p.Gly546Ser)
|
rs369068948
|
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_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_022725.4(FANCF):c.*1420A>G
|
rs414664
|
0.00011
|
NM_025215.6(PUS1):c.1266G>A (p.Gly422=)
|
rs201441662
|
0.00011
|
NM_032444.4(SLX4):c.2437G>A (p.Glu813Lys)
|
rs770020510
|
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_000032.5(ALAS2):c.661G>A (p.Ala221Thr)
|
rs753156183
|
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_000136.3(FANCC):c.*1332A>G
|
rs191983554
|
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.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_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.5323C>T (p.Arg1775Trp)
|
rs1276708
|
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_005142.3(CBLIF):c.1107C>T (p.Val369=)
|
rs537424617
|
0.00010
|
NM_006563.5(KLF1):c.*311A>G
|
rs767532783
|
0.00010
|
NM_006996.3(SLC19A2):c.*1928T>C
|
rs776987873
|
0.00010
|
NM_018368.4(LMBRD1):c.*384A>C
|
rs536469891
|
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_032444.4(SLX4):c.*168T>G
|
rs886051975
|
0.00010
|
NM_032444.4(SLX4):c.1911G>T (p.Ser637=)
|
rs200013924
|
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.8215G>A (p.Val2739Ile)
|
rs80359069
|
0.00009
|
NM_000135.4(FANCA):c.189+12C>G
|
rs753101174
|
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_000136.3(FANCC):c.*267G>A
|
rs769817519
|
0.00009
|
NM_000136.3(FANCC):c.1073-5C>T
|
rs375613884
|
0.00009
|
NM_000342.4(SLC4A1):c.*1409T>C
|
rs891382961
|
0.00009
|
NM_000355.4(TCN2):c.*520T>C
|
rs953408654
|
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.28T>C (p.Ser10Pro)
|
rs150075366
|
0.00009
|
NM_001018115.3(FANCD2):c.864C>T (p.Ser288=)
|
rs780547790
|
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.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.536G>T (p.Gly179Val)
|
rs370373276
|
0.00009
|
NM_001081.4(CUBN):c.5862G>A (p.Lys1954=)
|
rs181991723
|
0.00009
|
NM_001081.4(CUBN):c.8825A>G (p.Asn2942Ser)
|
rs766855509
|
0.00009
|
NM_001113378.2(FANCI):c.1900T>A (p.Phe634Ile)
|
rs140965103
|
0.00009
|
NM_001113378.2(FANCI):c.3466G>C (p.Gly1156Arg)
|
rs200026076
|
0.00009
|
NM_001243177.4(ALDOA):c.*101G>A
|
rs539833998
|
0.00009
|
NM_001243177.4(ALDOA):c.*72T>G
|
rs886051895
|
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_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.5808G>A (p.Lys1936=)
|
rs766829938
|
0.00009
|
NM_003126.4(SPTA1):c.6601-10G>A
|
rs753769799
|
0.00009
|
NM_005142.3(CBLIF):c.1074-3T>C
|
rs370833765
|
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_015702.3(MMADHC):c.-16A>G
|
rs144111552
|
0.00009
|
NM_018368.4(LMBRD1):c.*26A>G
|
rs758279877
|
0.00009
|
NM_021922.3(FANCE):c.1317-11C>T
|
rs147572271
|
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_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.207C>G (p.Leu69=)
|
rs140067992
|
0.00009
|
NM_032043.3(BRIP1):c.*1792G>A
|
rs746869920
|
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.2006G>A (p.Arg669His)
|
rs200807331
|
0.00009
|
NM_032444.4(SLX4):c.4409C>T (p.Pro1470Leu)
|
rs72778139
|
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_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_000355.4(TCN2):c.353T>C (p.Phe118Ser)
|
rs199728304
|
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_000617.3(SLC11A2):c.*1739C>T
|
rs766628921
|
0.00008
|
NM_001018113.3(FANCB):c.-230A>T
|
rs1020271259
|
0.00008
|
NM_001018115.3(FANCD2):c.2480A>C (p.Glu827Ala)
|
rs145099733
|
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.2446+11A>G
|
rs372125740
|
0.00008
|
NM_001081.4(CUBN):c.5073C>G (p.Pro1691=)
|
rs200977290
|
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_001243177.4(ALDOA):c.275-5C>T
|
rs752764982
|
0.00008
|
NM_001374504.1(TMPRSS6):c.*212T>A
|
rs781781005
|
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_006363.6(SEC23B):c.389T>C (p.Ile130Thr)
|
rs773290230
|
0.00008
|
NM_006947.4(SRP72):c.*1483A>G
|
rs566533583
|
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_021922.3(FANCE):c.1424A>G (p.Lys475Arg)
|
rs200083899
|
0.00008
|
NM_022725.4(FANCF):c.*336C>A
|
rs750128615
|
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_032444.4(SLX4):c.1115G>A (p.Arg372Gln)
|
rs372956623
|
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_198253.3(TERT):c.2127C>G (p.Val709=)
|
rs765264494
|
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_000096.4(CP):c.2998G>A (p.Gly1000Ser)
|
rs187293972
|
0.00007
|
NM_000135.4(FANCA):c.1573A>G (p.Ile525Val)
|
rs755925068
|
0.00007
|
NM_000136.3(FANCC):c.*1028C>T
|
rs556229977
|
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_001018115.3(FANCD2):c.4281+328G>T
|
rs1231972897
|
0.00007
|
NM_001063.4(TF):c.1615G>A (p.Ala539Thr)
|
rs369813809
|
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.8301A>G (p.Ser2767=)
|
rs377258631
|
0.00007
|
NM_001081.4(CUBN):c.8891C>G (p.Ser2964Cys)
|
rs148348845
|
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_001243177.4(ALDOA):c.223C>T (p.His75Tyr)
|
rs766734350
|
0.00007
|
NM_003126.4(SPTA1):c.243T>C (p.Tyr81=)
|
rs369988146
|
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_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_032043.3(BRIP1):c.*477A>G
|
rs1030551071
|
0.00007
|
NM_032043.3(BRIP1):c.1629-11T>C
|
rs375710640
|
0.00007
|
NM_032444.4(SLX4):c.192A>G (p.Lys64=)
|
rs756720856
|
0.00007
|
NM_032444.4(SLX4):c.2484G>C (p.Glu828Asp)
|
rs199656607
|
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_198253.3(TERT):c.887A>C (p.His296Pro)
|
rs778187343
|
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.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_000096.3(CP):c.-199C>G
|
rs772691705
|
0.00006
|
NM_000096.4(CP):c.3130G>A (p.Asp1044Asn)
|
rs149217680
|
0.00006
|
NM_000135.4(FANCA):c.*447T>C
|
rs771942409
|
0.00006
|
NM_000135.4(FANCA):c.1756G>A (p.Ala586Thr)
|
rs201212806
|
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.4064A>T (p.His1355Leu)
|
rs145886270
|
0.00006
|
NM_000135.4(FANCA):c.4273C>T (p.Arg1425Cys)
|
rs587778321
|
0.00006
|
NM_000136.3(FANCC):c.*1649A>G
|
rs560444013
|
0.00006
|
NM_000136.3(FANCC):c.609C>T (p.Leu203=)
|
rs567226063
|
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_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_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_000975.5(RPL11):c.158-7C>T
|
rs768654673
|
0.00006
|
NM_001011.4(RPS7):c.-27C>T
|
rs573443780
|
0.00006
|
NM_001018115.3(FANCD2):c.-33-13G>A
|
rs113338938
|
0.00006
|
NM_001018115.3(FANCD2):c.1546-8T>C
|
rs530202330
|
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_001022.3(RPS19):c.-74C>T
|
rs886054468
|
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.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.7106G>T (p.Gly2369Val)
|
rs200593316
|
0.00006
|
NM_001081.4(CUBN):c.735C>T (p.Cys245=)
|
rs766772944
|
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_001113378.2(FANCI):c.1111A>G (p.Ser371Gly)
|
rs149008055
|
0.00006
|
NM_001113378.2(FANCI):c.2292-11G>C
|
rs763570868
|
0.00006
|
NM_001113378.2(FANCI):c.2507A>G (p.Asn836Ser)
|
rs933284199
|
0.00006
|
NM_001113378.2(FANCI):c.288+10C>T
|
rs370505986
|
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_001243177.4(ALDOA):c.1107C>T (p.Gly369=)
|
rs142315181
|
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.915G>A (p.Ser305=)
|
rs199716549
|
0.00006
|
NM_002693.3(POLG):c.3650C>T (p.Ala1217Val)
|
rs199751339
|
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.1808C>T (p.Ser603Phe)
|
rs17878854
|
0.00006
|
NM_004629.2(FANCG):c.724C>T (p.Arg242Trp)
|
rs574511407
|
0.00006
|
NM_005142.3(CBLIF):c.379G>A (p.Ala127Thr)
|
rs760404861
|
0.00006
|
NM_006363.5(SEC23B):c.-394A>C
|
rs561908920
|
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_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.4G>T (p.Ala2Ser)
|
rs144057264
|
0.00006
|
NM_018368.4(LMBRD1):c.1438A>G (p.Thr480Ala)
|
rs138023744
|
0.00006
|
NM_018368.4(LMBRD1):c.562C>T (p.His188Tyr)
|
rs554554993
|
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_025215.6(PUS1):c.365G>A (p.Arg122Gln)
|
rs199863621
|
0.00006
|
NM_025215.6(PUS1):c.972C>T (p.Asp324=)
|
rs200065515
|
0.00006
|
NM_032043.3(BRIP1):c.1140+11G>A
|
rs369153270
|
0.00006
|
NM_032043.3(BRIP1):c.3103C>T (p.Arg1035Cys)
|
rs45437094
|
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.1415T>C (p.Leu472Ser)
|
rs776189589
|
0.00006
|
NM_032444.4(SLX4):c.2753C>T (p.Thr918Ile)
|
rs781323142
|
0.00006
|
NM_032444.4(SLX4):c.3068C>A (p.Ala1023Asp)
|
rs769271628
|
0.00006
|
NM_032444.4(SLX4):c.4530G>T (p.Leu1510=)
|
rs139254595
|
0.00006
|
NM_032444.4(SLX4):c.996G>T (p.Gln332His)
|
rs377201471
|
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_174936.4(PCSK9):c.1976G>T (p.Arg659Leu)
|
rs780214893
|
0.00006
|
NM_198253.3(TERT):c.2654+10G>A
|
rs375473823
|
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_000135.4(FANCA):c.1049G>A (p.Arg350Gln)
|
rs199967286
|
0.00005
|
NM_000135.4(FANCA):c.2152-13T>C
|
rs752105563
|
0.00005
|
NM_000135.4(FANCA):c.2778+10C>T
|
rs371786839
|
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.1494T>C (p.Ala498=)
|
rs76895298
|
0.00005
|
NM_000136.3(FANCC):c.395C>G (p.Ala132Gly)
|
rs587779905
|
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_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_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_001018115.3(FANCD2):c.696-11A>G
|
rs376488313
|
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.1230C>T (p.Ile410=)
|
rs144627803
|
0.00005
|
NM_001081.4(CUBN):c.4092C>G (p.Ser1364=)
|
rs199763912
|
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_001113378.2(FANCI):c.1113-10G>C
|
rs756650711
|
0.00005
|
NM_001113378.2(FANCI):c.3907G>A (p.Glu1303Lys)
|
rs544848412
|
0.00005
|
NM_001114134.2(EPB42):c.1661G>A (p.Arg554Gln)
|
rs150037117
|
0.00005
|
NM_001174125.2(SLC11A2):c.49+1746C>T
|
rs886763852
|
0.00005
|
NM_001374504.1(TMPRSS6):c.589+9T>C
|
rs377665035
|
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_021922.3(FANCE):c.397C>T (p.Leu133Phe)
|
rs759124595
|
0.00005
|
NM_022725.4(FANCF):c.*499T>C
|
rs566136504
|
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_032043.3(BRIP1):c.*2692A>G
|
rs886053204
|
0.00005
|
NM_032043.3(BRIP1):c.*659G>A
|
rs769375960
|
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.1941C>T (p.Pro647=)
|
rs540288743
|
0.00005
|
NM_032444.4(SLX4):c.3841G>A (p.Gly1281Arg)
|
rs754996241
|
0.00005
|
NM_032444.4(SLX4):c.4750C>T (p.Arg1584Cys)
|
rs560866356
|
0.00005
|
NM_032444.4(SLX4):c.5188T>C (p.Ser1730Pro)
|
rs199838670
|
0.00005
|
NM_032444.4(SLX4):c.5371C>T (p.Arg1791Cys)
|
rs371875095
|
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_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.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.4976C>T (p.Ala1659Val)
|
rs369796910
|
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.2662-14T>C
|
rs189155564
|
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.1675G>A (p.Glu559Lys)
|
rs201323171
|
0.00004
|
NM_000135.4(FANCA):c.1777-15C>G
|
rs371919426
|
0.00004
|
NM_000135.4(FANCA):c.189+7G>A
|
rs369985388
|
0.00004
|
NM_000135.4(FANCA):c.793-9T>C
|
rs757500718
|
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.1493C>T (p.Ala498Val)
|
rs730881725
|
0.00004
|
NM_000136.3(FANCC):c.1544C>G (p.Thr515Ser)
|
rs201379302
|
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_000253.4(MTTP):c.-153C>G
|
rs886058954
|
0.00004
|
NM_000289.6(PFKM):c.59T>C (p.Val20Ala)
|
rs755992543
|
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.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_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_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_001018115.3(FANCD2):c.1265C>G (p.Ser422Cys)
|
rs765378218
|
0.00004
|
NM_001018115.3(FANCD2):c.4186-5T>C
|
rs763801603
|
0.00004
|
NM_001018115.3(FANCD2):c.4281+534G>A
|
rs886057696
|
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.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.3692G>A (p.Ser1231Asn)
|
rs150277370
|
0.00004
|
NM_001081.4(CUBN):c.4423A>G (p.Met1475Val)
|
rs1290241240
|
0.00004
|
NM_001081.4(CUBN):c.5467A>G (p.Ile1823Val)
|
rs946315516
|
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.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.9714T>C (p.Gly3238=)
|
rs141513734
|
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.2183A>G (p.Asp728Gly)
|
rs752114490
|
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.3705C>T (p.Ala1235=)
|
rs185771112
|
0.00004
|
NM_001113378.2(FANCI):c.3721-15G>A
|
rs552581027
|
0.00004
|
NM_001113378.2(FANCI):c.3832C>T (p.His1278Tyr)
|
rs776134519
|
0.00004
|
NM_001114134.2(EPB42):c.1265G>T (p.Gly422Val)
|
rs538781293
|
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_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_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.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.833A>G (p.Lys278Arg)
|
rs886058957
|
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.366G>C (p.Trp122Cys)
|
rs546023787
|
0.00004
|
NM_004629.2(FANCG):c.880G>A (p.Gly294Arg)
|
rs886063897
|
0.00004
|
NM_006296.7(VRK2):c.1303G>A (p.Asp435Asn)
|
rs201610023
|
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.493T>G (p.Tyr165Asp)
|
rs201084086
|
0.00004
|
NM_018062.4(FANCL):c.622G>A (p.Asp208Asn)
|
rs199564543
|
0.00004
|
NM_018368.4(LMBRD1):c.1501T>C (p.Phe501Leu)
|
rs776133587
|
0.00004
|
NM_022725.4(FANCF):c.*1119T>A
|
rs558392453
|
0.00004
|
NM_022725.4(FANCF):c.*412T>A
|
rs1310827545
|
0.00004
|
NM_024675.4(PALB2):c.2067G>A (p.Ser689=)
|
rs371149159
|
0.00004
|
NM_024675.4(PALB2):c.2674G>A (p.Glu892Lys)
|
rs45476495
|
0.00004
|
NM_025215.6(PUS1):c.-287G>C
|
rs886049088
|
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_032043.3(BRIP1):c.*524A>G
|
rs371689236
|
0.00004
|
NM_032043.3(BRIP1):c.1000G>A (p.Ala334Thr)
|
rs535414791
|
0.00004
|
NM_032043.3(BRIP1):c.415T>G (p.Ser139Ala)
|
rs202072866
|
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.2125G>A (p.Val709Met)
|
rs151026877
|
0.00004
|
NM_032444.4(SLX4):c.2991G>A (p.Pro997=)
|
rs770736311
|
0.00004
|
NM_032444.4(SLX4):c.3648G>T (p.Gln1216His)
|
rs139544666
|
0.00004
|
NM_032444.4(SLX4):c.4740-6C>T
|
rs377066518
|
0.00004
|
NM_032444.4(SLX4):c.489T>G (p.Gly163=)
|
rs201211891
|
0.00004
|
NM_032444.4(SLX4):c.5177C>T (p.Ala1726Val)
|
rs752633436
|
0.00004
|
NM_032444.4(SLX4):c.5372G>A (p.Arg1791His)
|
rs560381786
|
0.00004
|
NM_058216.3(RAD51C):c.721G>A (p.Val241Met)
|
rs184033132
|
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.389T>C (p.Val130Ala)
|
rs369191223
|
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.3559-10T>C
|
rs543020087
|
0.00004
|
NM_174936.4(PCSK9):c.627C>T (p.Pro209=)
|
rs375892354
|
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_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.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_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_000096.4(CP):c.1575A>G (p.Val525=)
|
rs760634973
|
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.1738G>A (p.Val580Met)
|
rs769158149
|
0.00003
|
NM_000135.4(FANCA):c.2958C>T (p.Asn986=)
|
rs368953287
|
0.00003
|
NM_000135.4(FANCA):c.3359G>C (p.Cys1120Ser)
|
rs370731587
|
0.00003
|
NM_000135.4(FANCA):c.4199G>A (p.Arg1400His)
|
rs149851163
|
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.1595G>A (p.Arg532Lys)
|
rs55939573
|
0.00003
|
NM_000136.3(FANCC):c.438T>C (p.Tyr146=)
|
rs765990832
|
0.00003
|
NM_000289.6(PFKM):c.*668G>T
|
rs535423254
|
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_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.644G>A (p.Arg215Gln)
|
rs760721315
|
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_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_000518.5(HBB):c.-31C>T
|
rs63750628
|
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_001011.4(RPS7):c.-86C>T
|
rs186304514
|
0.00003
|
NM_001018115.3(FANCD2):c.1440T>C (p.His480=)
|
rs375412395
|
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.2965C>G (p.Pro989Ala)
|
rs200568638
|
0.00003
|
NM_001018115.3(FANCD2):c.3209A>T (p.His1070Leu)
|
rs759516610
|
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.1653C>T (p.Ser551=)
|
rs372499101
|
0.00003
|
NM_001081.4(CUBN):c.2318C>G (p.Thr773Ser)
|
rs200658389
|
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.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.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_001113378.2(FANCI):c.1398C>T (p.Ile466=)
|
rs201002833
|
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.2519G>A (p.Arg840His)
|
rs777483611
|
0.00003
|
NM_001113378.2(FANCI):c.3241G>A (p.Ala1081Thr)
|
rs375746069
|
0.00003
|
NM_001113378.2(FANCI):c.3537T>C (p.Tyr1179=)
|
rs964069381
|
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_001243177.4(ALDOA):c.219C>T (p.Ile73=)
|
rs773402743
|
0.00003
|
NM_001243177.4(ALDOA):c.226C>T (p.Arg76Cys)
|
rs145582724
|
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_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_005142.3(CBLIF):c.371-15C>T
|
rs759810252
|
0.00003
|
NM_005142.3(CBLIF):c.854A>G (p.Gln285Arg)
|
rs886048402
|
0.00003
|
NM_006363.6(SEC23B):c.2227C>T (p.Pro743Ser)
|
rs375734554
|
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_015702.3(MMADHC):c.*267T>C
|
rs546054980
|
0.00003
|
NM_017875.4(SLC25A38):c.*395G>A
|
rs576792249
|
0.00003
|
NM_018062.4(FANCL):c.*515A>C
|
rs971589098
|
0.00003
|
NM_018368.4(LMBRD1):c.417G>A (p.Thr139=)
|
rs934259733
|
0.00003
|
NM_021922.3(FANCE):c.-132A>G
|
rs886061325
|
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.101C>T (p.Ala34Val)
|
rs780228540
|
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_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.2285G>A (p.Arg762His)
|
rs200960251
|
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_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.1193G>A (p.Arg398Gln)
|
rs200030312
|
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.1756G>A (p.Ala586Thr)
|
rs764210911
|
0.00003
|
NM_032444.4(SLX4):c.1786G>A (p.Gly596Ser)
|
rs144454312
|
0.00003
|
NM_032444.4(SLX4):c.244A>G (p.Asn82Asp)
|
rs202237877
|
0.00003
|
NM_032444.4(SLX4):c.3062G>C (p.Arg1021Pro)
|
rs200842643
|
0.00003
|
NM_032444.4(SLX4):c.3118C>T (p.Pro1040Ser)
|
rs201359490
|
0.00003
|
NM_032444.4(SLX4):c.4889C>A (p.Ala1630Asp)
|
rs886051977
|
0.00003
|
NM_032444.4(SLX4):c.709C>T (p.Arg237Trp)
|
rs199912910
|
0.00003
|
NM_058216.3(RAD51C):c.1102C>T (p.Arg368Trp)
|
rs587780253
|
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.752T>C (p.Ile251Thr)
|
rs782457383
|
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_198253.3(TERT):c.*104C>T
|
rs886059830
|
0.00003
|
NM_198253.3(TERT):c.834C>A (p.Pro278=)
|
rs375423906
|
0.00003
|
NM_198253.3(TERT):c.968C>G (p.Pro323Arg)
|
rs139342764
|
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.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_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.229G>C (p.Asp77His)
|
rs200683433
|
0.00002
|
NM_000096.4(CP):c.2310G>A (p.Lys770=)
|
rs553883583
|
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.936C>T (p.Asp312=)
|
rs373073229
|
0.00002
|
NM_000135.4(FANCA):c.1226-12G>C
|
rs36011345
|
0.00002
|
NM_000135.4(FANCA):c.1567-11C>A
|
rs34353618
|
0.00002
|
NM_000135.4(FANCA):c.2395C>T (p.Pro799Ser)
|
rs762439008
|
0.00002
|
NM_000135.4(FANCA):c.28G>A (p.Ala10Thr)
|
rs965036018
|
0.00002
|
NM_000135.4(FANCA):c.3429G>A (p.Leu1143=)
|
rs146062039
|
0.00002
|
NM_000135.4(FANCA):c.3575C>T (p.Pro1192Leu)
|
rs780078373
|
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.701T>C (p.Met234Thr)
|
rs145869646
|
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_000136.3(FANCC):c.*1379C>G
|
rs55901384
|
0.00002
|
NM_000136.3(FANCC):c.*577G>A
|
rs1303539766
|
0.00002
|
NM_000186.4(CFH):c.2278A>T (p.Ile760Leu)
|
rs772553879
|
0.00002
|
NM_000186.4(CFH):c.2639C>T (p.Thr880Ile)
|
rs186711438
|
0.00002
|
NM_000186.4(CFH):c.33G>T (p.Met11Ile)
|
rs779670935
|
0.00002
|
NM_000289.6(PFKM):c.1946A>G (p.Lys649Arg)
|
rs199528011
|
0.00002
|
NM_000289.6(PFKM):c.514A>G (p.Thr172Ala)
|
rs139800248
|
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.202G>A (p.Glu68Lys)
|
rs13306787
|
0.00002
|
NM_000342.4(SLC4A1):c.2547G>A (p.Val849=)
|
rs753357599
|
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.905T>C (p.Ile302Thr)
|
rs754330583
|
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_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_000975.5(RPL11):c.-14T>C
|
rs886046307
|
0.00002
|
NM_001014.5(RPS10):c.*25G>T
|
rs886061321
|
0.00002
|
NM_001018113.3(FANCB):c.196A>C (p.Thr66Pro)
|
rs943801800
|
0.00002
|
NM_001018113.3(FANCB):c.2327C>T (p.Ala776Val)
|
rs761492600
|
0.00002
|
NM_001018115.3(FANCD2):c.1745C>T (p.Ala582Val)
|
rs768105189
|
0.00002
|
NM_001018115.3(FANCD2):c.3734C>T (p.Thr1245Met)
|
rs764775864
|
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.3517A>G (p.Ser1173Gly)
|
rs768104200
|
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.5917A>G (p.Ile1973Val)
|
rs556462218
|
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.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_001113378.2(FANCI):c.1176A>T (p.Ser392=)
|
rs201871288
|
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.1890+10A>G
|
rs201954421
|
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.3162C>T (p.His1054=)
|
rs746204528
|
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_001114636.1(FANCL):c.-13C>T
|
rs757714548
|
0.00002
|
NM_001243177.4(ALDOA):c.639C>G (p.Pro213=)
|
rs758499704
|
0.00002
|
NM_001271696.3(ABCB7):c.1935+5G>C
|
rs763223675
|
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.901T>C (p.Cys301Arg)
|
rs759706918
|
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.458C>G (p.Ala153Gly)
|
rs200074432
|
0.00002
|
NM_004629.2(FANCG):c.944G>A (p.Ser315Asn)
|
rs745833004
|
0.00002
|
NM_006363.6(SEC23B):c.2143A>G (p.Ser715Gly)
|
rs777442287
|
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_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.800A>G (p.His267Arg)
|
rs753424109
|
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.677G>A (p.Arg226His)
|
rs745526326
|
0.00002
|
NM_018062.4(FANCL):c.969G>A (p.Val323=)
|
rs200819615
|
0.00002
|
NM_018368.4(LMBRD1):c.897C>T (p.Gly299=)
|
rs757392138
|
0.00002
|
NM_021922.3(FANCE):c.*213T>A
|
rs532782953
|
0.00002
|
NM_021922.3(FANCE):c.*322C>T
|
rs559999264
|
0.00002
|
NM_022725.4(FANCF):c.*555T>C
|
rs1306529494
|
0.00002
|
NM_022725.4(FANCF):c.279C>T (p.Leu93=)
|
rs199578614
|
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.1955G>A (p.Ser652Asn)
|
rs587781818
|
0.00002
|
NM_024675.4(PALB2):c.2228A>G (p.Tyr743Cys)
|
rs141749524
|
0.00002
|
NM_024675.4(PALB2):c.897T>C (p.Ser299=)
|
rs180177095
|
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_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.736A>G (p.Ile246Val)
|
rs376893571
|
0.00002
|
NM_032043.3(BRIP1):c.820A>G (p.Thr274Ala)
|
rs62620988
|
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.151T>C (p.Phe51Leu)
|
rs769694224
|
0.00002
|
NM_032444.4(SLX4):c.2144C>T (p.Pro715Leu)
|
rs749399683
|
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.4427C>G (p.Thr1476Ser)
|
rs372321470
|
0.00002
|
NM_032444.4(SLX4):c.4830C>T (p.Ser1610=)
|
rs370775954
|
0.00002
|
NM_032444.4(SLX4):c.5060C>G (p.Pro1687Arg)
|
rs765960272
|
0.00002
|
NM_032444.4(SLX4):c.752C>T (p.Ala251Val)
|
rs201117707
|
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.3019C>T (p.Arg1007Trp)
|
rs142276684
|
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_198253.3(TERT):c.*64G>A
|
rs1327773385
|
0.00002
|
NM_198253.3(TERT):c.2886C>T (p.Arg962=)
|
rs542440625
|
0.00002
|
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.1117A>T (p.Thr373Ser)
|
rs779654741
|
0.00001
|
NM_000037.4(ANK1):c.1230G>C (p.Val410=)
|
rs184006495
|
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.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.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_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.2186T>C (p.Ile729Thr)
|
rs431825296
|
0.00001
|
NM_000059.4(BRCA2):c.2416G>C (p.Asp806His)
|
rs56404215
|
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.4534C>T (p.Arg1512Cys)
|
rs80358684
|
0.00001
|
NM_000059.4(BRCA2):c.4599A>C (p.Lys1533Asn)
|
rs80358694
|
0.00001
|
NM_000059.4(BRCA2):c.5225A>T (p.Asn1742Ile)
|
rs756463217
|
0.00001
|
NM_000059.4(BRCA2):c.608C>A (p.Thr203Asn)
|
rs398122547
|
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.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.7104G>A (p.Leu2368=)
|
rs764698623
|
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.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.125A>G (p.Lys42Arg)
|
rs886058090
|
0.00001
|
NM_000096.4(CP):c.1309A>G (p.Lys437Glu)
|
rs764238637
|
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.1478C>T (p.Pro493Leu)
|
rs1391447500
|
0.00001
|
NM_000096.4(CP):c.1713+3A>G
|
rs372361874
|
0.00001
|
NM_000096.4(CP):c.2180T>C (p.Phe727Ser)
|
rs886058087
|
0.00001
|
NM_000096.4(CP):c.2266C>A (p.His756Asn)
|
rs773420516
|
0.00001
|
NM_000096.4(CP):c.2697T>C (p.Val899=)
|
rs17847022
|
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.1150G>T (p.Val384Phe)
|
rs751071791
|
0.00001
|
NM_000135.4(FANCA):c.1632C>A (p.His544Gln)
|
rs553129361
|
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.1990A>G (p.Met664Val)
|
rs748579719
|
0.00001
|
NM_000135.4(FANCA):c.2203A>G (p.Ser735Gly)
|
rs886052485
|
0.00001
|
NM_000135.4(FANCA):c.2218G>A (p.Glu740Lys)
|
rs536086288
|
0.00001
|
NM_000135.4(FANCA):c.2570G>A (p.Cys857Tyr)
|
rs886052484
|
0.00001
|
NM_000135.4(FANCA):c.3109C>A (p.Pro1037Thr)
|
rs771174892
|
0.00001
|
NM_000135.4(FANCA):c.3274G>A (p.Gly1092Ser)
|
rs772828870
|
0.00001
|
NM_000135.4(FANCA):c.3525G>A (p.Pro1175=)
|
rs765106818
|
0.00001
|
NM_000135.4(FANCA):c.3626+7G>A
|
rs933657325
|
0.00001
|
NM_000135.4(FANCA):c.3733C>A (p.Gln1245Lys)
|
rs745665658
|
0.00001
|
NM_000135.4(FANCA):c.3843G>A (p.Leu1281=)
|
rs768380959
|
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.4274G>A (p.Arg1425His)
|
rs147406377
|
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.695G>A (p.Arg232Lys)
|
rs886052487
|
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.1281C>T (p.Ala427=)
|
rs754604606
|
0.00001
|
NM_000136.3(FANCC):c.440C>T (p.Pro147Leu)
|
rs730881711
|
0.00001
|
NM_000136.3(FANCC):c.542C>T (p.Ala181Val)
|
rs182879858
|
0.00001
|
NM_000186.4(CFH):c.*14G>A
|
rs463726
|
0.00001
|
NM_000186.4(CFH):c.2314G>A (p.Asp772Asn)
|
rs374704701
|
0.00001
|
NM_000186.4(CFH):c.2542G>A (p.Gly848Arg)
|
rs886045746
|
0.00001
|
NM_000186.4(CFH):c.2784C>A (p.Gly928=)
|
rs755926856
|
0.00001
|
NM_000186.4(CFH):c.3134-7T>C
|
rs779166622
|
0.00001
|
NM_000253.4(MTTP):c.-205G>A
|
rs886058953
|
0.00001
|
NM_000289.6(PFKM):c.*532A>G
|
rs927525907
|
0.00001
|
NM_000289.6(PFKM):c.1033C>T (p.Arg345Cys)
|
rs762357629
|
0.00001
|
NM_000289.6(PFKM):c.1242C>G (p.Gly414=)
|
rs886049454
|
0.00001
|
NM_000289.6(PFKM):c.864A>G (p.Gly288=)
|
rs1313998695
|
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.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.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.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.2210C>T (p.Ala737Val)
|
rs886052997
|
0.00001
|
NM_000342.4(SLC4A1):c.2482-9C>T
|
rs886052995
|
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_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.459C>T (p.Ser153=)
|
rs201344377
|
0.00001
|
NM_000355.4(TCN2):c.529G>A (p.Asp177Asn)
|
rs773855163
|
0.00001
|
NM_000355.4(TCN2):c.899C>T (p.Thr300Ile)
|
rs763836785
|
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.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_000518.5(HBB):c.*18C>A
|
rs1348310843
|
0.00001
|
NM_000518.5(HBB):c.*53C>A
|
rs886048393
|
0.00001
|
NM_000518.5(HBB):c.274C>T (p.Leu92=)
|
rs769583496
|
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_000969.5(RPL5):c.202C>T (p.Arg68Cys)
|
rs750383596
|
0.00001
|
NM_000969.5(RPL5):c.642A>T (p.Glu214Asp)
|
rs764296257
|
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_000996.4(RPL35A):c.-31C>T
|
rs766043927
|
0.00001
|
NM_000996.4(RPL35A):c.55C>T (p.Arg19Trp)
|
rs1349665099
|
0.00001
|
NM_001011.4(RPS7):c.-13C>T
|
rs765604580
|
0.00001
|
NM_001011.4(RPS7):c.39C>T (p.Gly13=)
|
rs746686516
|
0.00001
|
NM_001011.4(RPS7):c.580T>C (p.Leu194=)
|
rs1480952113
|
0.00001
|
NM_001018113.3(FANCB):c.1179T>C (p.Pro393=)
|
rs764156696
|
0.00001
|
NM_001018113.3(FANCB):c.1265C>T (p.Ser422Phe)
|
rs1057515805
|
0.00001
|
NM_001018113.3(FANCB):c.183C>T (p.Ser61=)
|
rs1317100453
|
0.00001
|
NM_001018113.3(FANCB):c.914C>A (p.Ser305Tyr)
|
rs1057515808
|
0.00001
|
NM_001018115.3(FANCD2):c.1400C>T (p.Thr467Met)
|
rs760246372
|
0.00001
|
NM_001018115.3(FANCD2):c.1830G>A (p.Val610=)
|
rs1447943740
|
0.00001
|
NM_001018115.3(FANCD2):c.2234A>G (p.His745Arg)
|
rs2087692676
|
0.00001
|
NM_001018115.3(FANCD2):c.2433G>C (p.Lys811Asn)
|
rs769811062
|
0.00001
|
NM_001018115.3(FANCD2):c.3558C>G (p.Leu1186=)
|
rs745765337
|
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.382G>T (p.Gly128Cys)
|
rs772201181
|
0.00001
|
NM_001018115.3(FANCD2):c.4233G>C (p.Glu1411Asp)
|
rs61753270
|
0.00001
|
NM_001018115.3(FANCD2):c.4281+179C>T
|
rs370459744
|
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.521G>A (p.Arg174Gln)
|
rs41291203
|
0.00001
|
NM_001018115.3(FANCD2):c.552C>T (p.Asp184=)
|
rs2086806957
|
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_001029.5(RPS26):c.-80C>T
|
rs886049687
|
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.10238A>G (p.Asp3413Gly)
|
rs760807440
|
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.3308A>G (p.Tyr1103Cys)
|
rs760682560
|
0.00001
|
NM_001081.4(CUBN):c.3944G>A (p.Gly1315Asp)
|
rs773480436
|
0.00001
|
NM_001081.4(CUBN):c.4242C>T (p.Asn1414=)
|
rs138052938
|
0.00001
|
NM_001081.4(CUBN):c.4837C>T (p.Arg1613Ter)
|
rs769881615
|
0.00001
|
NM_001081.4(CUBN):c.5076C>T (p.Leu1692=)
|
rs886046874
|
0.00001
|
NM_001081.4(CUBN):c.5131G>A (p.Ala1711Thr)
|
rs768182223
|
0.00001
|
NM_001081.4(CUBN):c.6729G>A (p.Pro2243=)
|
rs757609735
|
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.7533A>C (p.Ile2511=)
|
rs748416223
|
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.8479G>A (p.Glu2827Lys)
|
rs373893072
|
0.00001
|
NM_001081.4(CUBN):c.8656G>A (p.Val2886Met)
|
rs200235278
|
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.9228C>T (p.Ile3076=)
|
rs976401499
|
0.00001
|
NM_001081.4(CUBN):c.9618G>A (p.Leu3206=)
|
rs559567467
|
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.1311A>G (p.Arg437=)
|
rs772846275
|
0.00001
|
NM_001113378.2(FANCI):c.2169+12G>A
|
rs886051512
|
0.00001
|
NM_001113378.2(FANCI):c.2185T>A (p.Phe729Ile)
|
rs757610698
|
0.00001
|
NM_001113378.2(FANCI):c.2589T>A (p.Asp863Glu)
|
rs199758631
|
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.3237G>A (p.Thr1079=)
|
rs767103109
|
0.00001
|
NM_001113378.2(FANCI):c.3247A>G (p.Thr1083Ala)
|
rs886051513
|
0.00001
|
NM_001113378.2(FANCI):c.3400A>G (p.Ile1134Val)
|
rs377630829
|
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.3589C>G (p.Leu1197Val)
|
rs149763090
|
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_001114134.2(EPB42):c.860G>A (p.Arg287His)
|
rs371685912
|
0.00001
|
NM_001114134.2(EPB42):c.901C>T (p.Arg301Cys)
|
rs886051167
|
0.00001
|
NM_001174125.2(SLC11A2):c.49+1791C>T
|
rs920922103
|
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.910G>A (p.Ala304Thr)
|
rs886051893
|
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.2073T>C (p.His691=)
|
rs781524899
|
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.865G>A (p.Val289Met)
|
rs1319296800
|
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.1477G>T (p.Ala493Ser)
|
rs758939873
|
0.00001
|
NM_001386140.1(MTTP):c.2041G>A (p.Glu681Lys)
|
rs886058958
|
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_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.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.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.1252G>A (p.Glu418Lys)
|
rs886063896
|
0.00001
|
NM_004629.2(FANCG):c.1434-6C>T
|
rs1404150675
|
0.00001
|
NM_004629.2(FANCG):c.1652A>C (p.Tyr551Ser)
|
rs1447816480
|
0.00001
|
NM_004629.2(FANCG):c.682G>A (p.Ala228Thr)
|
rs765095688
|
0.00001
|
NM_004629.2(FANCG):c.999C>T (p.Asp333=)
|
rs762238437
|
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.239T>C (p.Met80Thr)
|
rs376339959
|
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.1413C>T (p.Thr471=)
|
rs900752773
|
0.00001
|
NM_006363.6(SEC23B):c.1483C>T (p.Arg495Cys)
|
rs768018657
|
0.00001
|
NM_006363.6(SEC23B):c.2150del (p.Ala717fs)
|
rs1334741748
|
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_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.1149G>C (p.Val383=)
|
rs747484241
|
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_015702.3(MMADHC):c.244T>G (p.Cys82Gly)
|
rs760590651
|
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.436A>G (p.Arg146Gly)
|
rs369876807
|
0.00001
|
NM_018062.4(FANCL):c.856G>T (p.Asp286Tyr)
|
rs1685420223
|
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.1347A>G (p.Ile449Met)
|
rs771561971
|
0.00001
|
NM_018368.4(LMBRD1):c.41G>C (p.Gly14Ala)
|
rs201773048
|
0.00001
|
NM_018368.4(LMBRD1):c.867T>A (p.Ile289=)
|
rs747318789
|
0.00001
|
NM_021922.3(FANCE):c.*401G>C
|
rs886061333
|
0.00001
|
NM_021922.3(FANCE):c.1130C>T (p.Ser377Phe)
|
rs1236565765
|
0.00001
|
NM_021922.3(FANCE):c.1290G>T (p.Glu430Asp)
|
rs886061331
|
0.00001
|
NM_021922.3(FANCE):c.216G>T (p.Pro72=)
|
rs886061328
|
0.00001
|
NM_021922.3(FANCE):c.400C>T (p.Arg134Cys)
|
rs181761362
|
0.00001
|
NM_021922.3(FANCE):c.508G>T (p.Gly170Trp)
|
rs748817910
|
0.00001
|
NM_021922.3(FANCE):c.862C>T (p.Leu288Phe)
|
rs886061329
|
0.00001
|
NM_021922.3(FANCE):c.977T>G (p.Leu326Trp)
|
rs779336261
|
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.210C>T (p.Gly70=)
|
rs769740744
|
0.00001
|
NM_022725.4(FANCF):c.436C>G (p.Leu146Val)
|
rs779428484
|
0.00001
|
NM_022725.4(FANCF):c.680A>G (p.His227Arg)
|
rs1248152779
|
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.1364A>G (p.Asn455Ser)
|
rs587781824
|
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.2277A>G (p.Gln759=)
|
rs786202524
|
0.00001
|
NM_024675.4(PALB2):c.2896A>G (p.Ile966Val)
|
rs786204248
|
0.00001
|
NM_024675.4(PALB2):c.3073G>A (p.Ala1025Thr)
|
rs746872839
|
0.00001
|
NM_024675.4(PALB2):c.3394T>C (p.Leu1132=)
|
rs1282821765
|
0.00001
|
NM_024675.4(PALB2):c.3494C>T (p.Ser1165Leu)
|
rs773829275
|
0.00001
|
NM_024675.4(PALB2):c.495C>T (p.Gly165=)
|
rs200937538
|
0.00001
|
NM_024675.4(PALB2):c.718C>A (p.Pro240Thr)
|
rs757567654
|
0.00001
|
NM_024675.4(PALB2):c.828C>T (p.His276=)
|
rs911713488
|
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.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.946C>T (p.Arg316Cys)
|
rs573837941
|
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.1109A>G (p.Asn370Ser)
|
rs777511615
|
0.00001
|
NM_032043.3(BRIP1):c.1442G>A (p.Gly481Asp)
|
rs200062099
|
0.00001
|
NM_032043.3(BRIP1):c.1474-3T>C
|
rs552752779
|
0.00001
|
NM_032043.3(BRIP1):c.1641T>G (p.Asp547Glu)
|
rs754414731
|
0.00001
|
NM_032043.3(BRIP1):c.2776G>A (p.Ala926Thr)
|
rs1003917080
|
0.00001
|
NM_032043.3(BRIP1):c.2801T>C (p.Phe934Ser)
|
rs778916092
|
0.00001
|
NM_032043.3(BRIP1):c.2811T>C (p.Asp937=)
|
rs374335608
|
0.00001
|
NM_032043.3(BRIP1):c.3093T>C (p.Ser1031=)
|
rs937490699
|
0.00001
|
NM_032043.3(BRIP1):c.612C>G (p.Ser204=)
|
rs587780832
|
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.112C>T (p.Leu38Phe)
|
rs141167501
|
0.00001
|
NM_032444.4(SLX4):c.1163+5G>A
|
rs762454252
|
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.1603G>A (p.Ala535Thr)
|
rs776394340
|
0.00001
|
NM_032444.4(SLX4):c.1976C>T (p.Ser659Leu)
|
rs372150541
|
0.00001
|
NM_032444.4(SLX4):c.2077G>A (p.Val693Ile)
|
rs2040629635
|
0.00001
|
NM_032444.4(SLX4):c.2584C>T (p.Arg862Ter)
|
rs200715208
|
0.00001
|
NM_032444.4(SLX4):c.3087A>T (p.Pro1029=)
|
rs746254787
|
0.00001
|
NM_032444.4(SLX4):c.3153A>G (p.Thr1051=)
|
rs1484366381
|
0.00001
|
NM_032444.4(SLX4):c.3367T>C (p.Ser1123Pro)
|
rs201582780
|
0.00001
|
NM_032444.4(SLX4):c.3410G>C (p.Arg1137Thr)
|
rs1391353238
|
0.00001
|
NM_032444.4(SLX4):c.3721C>T (p.Arg1241Cys)
|
rs771835799
|
0.00001
|
NM_032444.4(SLX4):c.3912C>T (p.Val1304=)
|
rs140254478
|
0.00001
|
NM_032444.4(SLX4):c.4030T>C (p.Ser1344Pro)
|
rs745595506
|
0.00001
|
NM_032444.4(SLX4):c.4130C>T (p.Ser1377Leu)
|
rs770241338
|
0.00001
|
NM_032444.4(SLX4):c.4347G>A (p.Leu1449=)
|
rs373300793
|
0.00001
|
NM_032444.4(SLX4):c.4546G>A (p.Gly1516Arg)
|
rs775915651
|
0.00001
|
NM_032444.4(SLX4):c.4684C>T (p.Pro1562Ser)
|
rs893507870
|
0.00001
|
NM_032444.4(SLX4):c.4892C>T (p.Ser1631Phe)
|
rs763539738
|
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.5365G>A (p.Gly1789Ser)
|
rs374876624
|
0.00001
|
NM_032444.4(SLX4):c.890A>G (p.Gln297Arg)
|
rs778643553
|
0.00001
|
NM_033022.4(RPS24):c.3+7C>T
|
rs759947869
|
0.00001
|
NM_058216.3(RAD51C):c.404+7T>C
|
rs1350153132
|
0.00001
|
NM_058216.3(RAD51C):c.435A>G (p.Pro145=)
|
rs555235745
|
0.00001
|
NM_058216.3(RAD51C):c.601C>G (p.Leu201Val)
|
rs531838785
|
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.1583C>T (p.Pro528Leu)
|
rs755117251
|
0.00001
|
NM_138477.4(CDAN1):c.2073C>T (p.Leu691=)
|
rs199776068
|
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_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.2781A>G (p.Leu927=)
|
rs370292237
|
0.00001
|
NM_198253.3(TERT):c.3101G>A (p.Arg1034His)
|
rs62331332
|
0.00001
|
NM_198253.3(TERT):c.880C>T (p.His294Tyr)
|
rs886059906
|
0.00001
|
NC_000013.11:g.32315487G>T
|
rs1036870835
|
|
NM_000032.5(ALAS2):c.-16+6A>G
|
rs1935989193
|
|
NM_000032.5(ALAS2):c.146C>T (p.Ser49Phe)
|
|
|
NM_000032.5(ALAS2):c.1500T>C (p.Tyr500=)
|
rs1602244633
|
|
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.1050C>T (p.His350=)
|
rs1828761369
|
|
NM_000037.4(ANK1):c.1131C>A (p.Ile377=)
|
rs373336198
|
|
NM_000037.4(ANK1):c.1179G>A (p.Thr393=)
|
rs886062941
|
|
NM_000037.4(ANK1):c.1404+15C>A
|
rs201598401
|
|
NM_000037.4(ANK1):c.2981C>T (p.Pro994Leu)
|
rs753931863
|
|
NM_000037.4(ANK1):c.3342G>T (p.Pro1114=)
|
rs374102892
|
|
NM_000037.4(ANK1):c.3971C>T (p.Ala1324Val)
|
rs1228458158
|
|
NM_000037.4(ANK1):c.3985-10T>C
|
rs886062940
|
|
NM_000037.4(ANK1):c.4060C>T (p.His1354Tyr)
|
rs764226906
|
|
NM_000037.4(ANK1):c.4497C>T (p.His1499=)
|
rs370037242
|
|
NM_000037.4(ANK1):c.4524C>T (p.Pro1508=)
|
rs886062938
|
|
NM_000037.4(ANK1):c.5628A>G (p.Lys1876=)
|
rs184665931
|
|
NM_000037.4(ANK1):c.875T>C (p.Leu292Pro)
|
rs1829705168
|
|
NM_000037.4(ANK1):c.964C>A (p.Arg322=)
|
rs770743762
|
|
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.1166C>A (p.Pro389Gln)
|
rs397507263
|
|
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.1460C>A (p.Ala487Glu)
|
rs56390402
|
|
NM_000059.4(BRCA2):c.184T>C (p.Phe62Leu)
|
rs2072286770
|
|
NM_000059.4(BRCA2):c.2240A>G (p.Glu747Gly)
|
rs397507283
|
|
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.2803G>C (p.Asp935His)
|
rs28897716
|
|
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.3824T>C (p.Ile1275Thr)
|
rs80358625
|
|
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.587G>T (p.Ser196Ile)
|
rs80358818
|
|
NM_000059.4(BRCA2):c.6101G>A (p.Arg2034His)
|
rs80358849
|
|
NM_000059.4(BRCA2):c.6237G>A (p.Val2079=)
|
rs864622516
|
|
NM_000059.4(BRCA2):c.632-3C>T
|
rs568027879
|
|
NM_000059.4(BRCA2):c.679G>A (p.Ala227Thr)
|
rs398122563
|
|
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.7188G>A (p.Leu2396=)
|
rs587780871
|
|
NM_000059.4(BRCA2):c.7435+10G>A
|
rs81002793
|
|
NM_000059.4(BRCA2):c.7464A>C (p.Arg2488Ser)
|
rs80358969
|
|
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.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.9218A>G (p.Asp3073Gly)
|
rs80359186
|
|
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_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.1199C>A (p.Ala400Glu)
|
rs1446212124
|
|
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.1864+1G>C
|
rs1559942361
|
|
NM_000096.4(CP):c.1973T>C (p.Ile658Thr)
|
rs1726190460
|
|
NM_000096.4(CP):c.2268T>C (p.His756=)
|
rs765341479
|
|
NM_000096.4(CP):c.2286-14dup
|
rs561633350
|
|
NM_000096.4(CP):c.2496C>T (p.Tyr832=)
|
rs1199272207
|
|
NM_000096.4(CP):c.2557G>A (p.Glu853Lys)
|
rs886058086
|
|
NM_000096.4(CP):c.2621G>A (p.Cys874Tyr)
|
rs570400135
|
|
NM_000096.4(CP):c.508G>A (p.Gly170Arg)
|
rs886058089
|
|
NM_000096.4(CP):c.701A>G (p.Asp234Gly)
|
rs769311718
|
|
NM_000096.4(CP):c.850T>C (p.Tyr284His)
|
rs886058088
|
|
NM_000096.4(CP):c.921G>A (p.Lys307=)
|
rs543777038
|
|
NM_000135.4(FANCA):c.*1012A>G
|
rs886052477
|
|
NM_000135.4(FANCA):c.*109C>T
|
rs55679217
|
|
NM_000135.4(FANCA):c.1143G>A (p.Thr381=)
|
rs1800331
|
|
NM_000135.4(FANCA):c.1328C>G (p.Ser443Cys)
|
rs367733447
|
|
NM_000135.4(FANCA):c.1408C>G (p.Leu470Val)
|
rs752092543
|
|
NM_000135.4(FANCA):c.1471-10C>G
|
rs368356709
|
|
NM_000135.4(FANCA):c.1518C>T (p.Leu506=)
|
rs781524409
|
|
NM_000135.4(FANCA):c.1753C>T (p.Pro585Ser)
|
rs2039611087
|
|
NM_000135.4(FANCA):c.1805C>T (p.Ala602Val)
|
rs374968669
|
|
NM_000135.4(FANCA):c.1826+4T>A
|
rs979666807
|
|
NM_000135.4(FANCA):c.18C>G (p.Val6=)
|
rs916719756
|
|
NM_000135.4(FANCA):c.1901-9T>G
|
rs886052486
|
|
NM_000135.4(FANCA):c.2015-4G>T
|
rs373954227
|
|
NM_000135.4(FANCA):c.2316+9C>T
|
rs776301232
|
|
NM_000135.4(FANCA):c.2602-13CT[2]
|
rs577636020
|
|
NM_000135.4(FANCA):c.2602-14A>C
|
rs886052483
|
|
NM_000135.4(FANCA):c.284-9G>C
|
rs367672895
|
|
NM_000135.4(FANCA):c.2852+12A>T
|
rs2038966561
|
|
NM_000135.4(FANCA):c.2880T>A (p.His960Gln)
|
rs2038843708
|
|
NM_000135.4(FANCA):c.3142dup (p.Leu1048fs)
|
rs1405317971
|
|
NM_000135.4(FANCA):c.3190A>G (p.Ser1064Gly)
|
rs1014152202
|
|
NM_000135.4(FANCA):c.3267C>T (p.Val1089=)
|
rs994416299
|
|
NM_000135.4(FANCA):c.3352A>G (p.Asn1118Asp)
|
rs371208490
|
|
NM_000135.4(FANCA):c.3531G>A (p.Leu1177=)
|
rs886052482
|
|
NM_000135.4(FANCA):c.356C>G (p.Ser119Cys)
|
rs751309143
|
|
NM_000135.4(FANCA):c.3701T>C (p.Ile1234Thr)
|
rs886052481
|
|
NM_000135.4(FANCA):c.377C>G (p.Thr126Arg)
|
rs139160837
|
|
NM_000135.4(FANCA):c.3825A>G (p.Ser1275=)
|
rs886052480
|
|
NM_000135.4(FANCA):c.3859G>T (p.Val1287Phe)
|
rs17227354
|
|
NM_000135.4(FANCA):c.3901T>A (p.Ser1301Thr)
|
rs765162125
|
|
NM_000135.4(FANCA):c.402T>C (p.Pro134=)
|
rs745666586
|
|
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.4128T>C (p.Val1376=)
|
rs1209384219
|
|
NM_000135.4(FANCA):c.4285G>A (p.Asp1429Asn)
|
rs748856769
|
|
NM_000135.4(FANCA):c.590T>C (p.Leu197Pro)
|
rs886052488
|
|
NM_000135.4(FANCA):c.74T>G (p.Leu25Arg)
|
rs886052489
|
|
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.1534-8G>A
|
rs2071090579
|
|
NM_000136.3(FANCC):c.38A>G (p.Gln13Arg)
|
rs199968672
|
|
NM_000136.3(FANCC):c.3G>A (p.Met1Ile)
|
rs1368374192
|
|
NM_000136.3(FANCC):c.700C>G (p.Leu234Val)
|
rs1827537458
|
|
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.1451C>T (p.Ala484Val)
|
rs1668781638
|
|
NM_000186.4(CFH):c.1984A>G (p.Arg662Gly)
|
rs760174473
|
|
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.3134-5T>C
|
rs513699
|
|
NM_000186.4(CFH):c.7C>G (p.Leu3Val)
|
rs139254423
|
|
NM_000253.4(MTTP):c.-149C>A
|
rs886058955
|
|
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.1063-7C>T
|
rs776228408
|
|
NM_000289.6(PFKM):c.1648T>C (p.Cys550Arg)
|
rs1950621584
|
|
NM_000289.6(PFKM):c.360C>T (p.Gly120=)
|
rs886049453
|
|
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.1117-4C>G
|
rs1572054195
|
|
NM_000298.6(PKLR):c.188C>G (p.Ala63Gly)
|
rs886045353
|
|
NM_000298.6(PKLR):c.284-9T>C
|
rs886045352
|
|
NM_000298.6(PKLR):c.376-11C>G
|
rs1647538523
|
|
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.943G>A (p.Glu315Lys)
|
rs1557959063
|
|
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_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.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.2243G>A (p.Gly748Glu)
|
rs886052996
|
|
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.319C>T (p.Leu107Phe)
|
rs2047435499
|
|
NM_000342.4(SLC4A1):c.344C>T (p.Thr115Ile)
|
rs2047435077
|
|
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.1092G>A (p.Glu364=)
|
rs886057397
|
|
NM_000355.4(TCN2):c.408G>C (p.Glu136Asp)
|
rs886057396
|
|
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.581-4C>T
|
rs867249218
|
|
NM_000355.4(TCN2):c.581-8A>G
|
rs7290898
|
|
NM_000355.4(TCN2):c.810G>A (p.Ala270=)
|
rs61748898
|
|
NM_000355.4(TCN2):c.810G>T (p.Ala270=)
|
rs61748898
|
|
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>T
|
rs181882616
|
|
NM_000365.6(TPI1):c.239+8C>A
|
rs782359362
|
|
NM_000365.6(TPI1):c.558C>T (p.His186=)
|
rs369241009
|
|
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.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_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_000518.5(HBB):c.*56A>T
|
rs537944366
|
|
NM_000518.5(HBB):c.*59A>G
|
rs1345009528
|
|
NM_000518.5(HBB):c.402G>C (p.Val134=)
|
rs113082294
|
|
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.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_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.3+11G>C
|
rs376414614
|
|
NM_000969.5(RPL5):c.4-10T>C
|
rs1686989669
|
|
NM_000969.5(RPL5):c.400A>C (p.Ser134Arg)
|
rs1687120549
|
|
NM_000975.5(RPL11):c.270G>A (p.Arg90=)
|
rs886046308
|
|
NM_000996.4(RPL35A):c.-37T>G
|
rs886058265
|
|
NM_001011.4(RPS7):c.-23G>A
|
rs886055985
|
|
NM_001011.4(RPS7):c.-44C>T
|
rs563293592
|
|
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.168C>T (p.Gly56=)
|
rs1765897705
|
|
NM_001014.5(RPS10):c.364G>A (p.Ala122Thr)
|
rs886061322
|
|
NM_001018113.3(FANCB):c.-219G>T
|
rs373175926
|
|
NM_001018113.3(FANCB):c.1078A>G (p.Thr360Ala)
|
rs956498867
|
|
NM_001018113.3(FANCB):c.1652G>A (p.Arg551Lys)
|
rs2092370985
|
|
NM_001018113.3(FANCB):c.1929G>A (p.Glu643=)
|
rs2092368698
|
|
NM_001018113.3(FANCB):c.2373C>T (p.Ser791=)
|
rs2092363086
|
|
NM_001018113.3(FANCB):c.357A>T (p.Glu119Asp)
|
rs970828551
|
|
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.952-13C>T
|
rs1057515807
|
|
NM_001018115.3(FANCD2):c.1232G>T (p.Cys411Phe)
|
rs886057663
|
|
NM_001018115.3(FANCD2):c.1278+5G>T
|
rs796652647
|
|
NM_001018115.3(FANCD2):c.1441A>G (p.Ile481Val)
|
rs2087129096
|
|
NM_001018115.3(FANCD2):c.1550T>C (p.Ile517Thr)
|
rs1221998060
|
|
NM_001018115.3(FANCD2):c.1596C>T (p.Leu532=)
|
rs2087245604
|
|
NM_001018115.3(FANCD2):c.1667A>G (p.His556Arg)
|
rs1232065920
|
|
NM_001018115.3(FANCD2):c.1802A>T (p.Asn601Ile)
|
rs955122662
|
|
NM_001018115.3(FANCD2):c.1874C>T (p.Pro625Leu)
|
rs886057690
|
|
NM_001018115.3(FANCD2):c.2176T>A (p.Ser726Thr)
|
rs1168778380
|
|
NM_001018115.3(FANCD2):c.2276C>T (p.Pro759Leu)
|
rs758628578
|
|
NM_001018115.3(FANCD2):c.2581A>G (p.Lys861Glu)
|
rs886057691
|
|
NM_001018115.3(FANCD2):c.2826G>C (p.Thr942=)
|
rs200118565
|
|
NM_001018115.3(FANCD2):c.3351C>T (p.Tyr1117=)
|
rs566518051
|
|
NM_001018115.3(FANCD2):c.3788A>G (p.Glu1263Gly)
|
rs886057692
|
|
NM_001018115.3(FANCD2):c.4137T>C (p.Asn1379=)
|
rs752376206
|
|
NM_001018115.3(FANCD2):c.4234_4239del (p.Ser1412_Glu1413del)
|
rs766605179
|
|
NM_001018115.3(FANCD2):c.4281+517A>C
|
rs1695165243
|
|
NM_001018115.3(FANCD2):c.4281+543C>T
|
rs540249462
|
|
NM_001018115.3(FANCD2):c.4281+823A>G
|
rs886057697
|
|
NM_001018115.3(FANCD2):c.607G>C (p.Ala203Pro)
|
rs769402896
|
|
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.172+5G>C
|
rs886054471
|
|
NM_001022.4(RPS19):c.198C>T (p.Leu66=)
|
rs1275070186
|
|
NM_001022.4(RPS19):c.357-5C>G
|
rs782129469
|
|
NM_001022.4(RPS19):c.71+12del
|
rs886054470
|
|
NM_001022.4(RPS19):c.71+6T>A
|
rs2074021759
|
|
NM_001029.5(RPS26):c.-130T>G
|
rs1895889933
|
|
NM_001029.5(RPS26):c.-149G>T
|
rs886049686
|
|
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.30C>T (p.Ser10=)
|
rs886049305
|
|
NM_001040436.3(YARS2):c.327C>G (p.Ile109Met)
|
rs886049304
|
|
NM_001040436.3(YARS2):c.930G>A (p.Pro310=)
|
rs147551647
|
|
NM_001063.4(TF):c.*81A>G
|
rs886058015
|
|
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_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.10077G>C (p.Ser3359=)
|
rs147563157
|
|
NM_001081.4(CUBN):c.10143C>G (p.Asn3381Lys)
|
rs1839164438
|
|
NM_001081.4(CUBN):c.1036G>C (p.Val346Leu)
|
rs886046879
|
|
NM_001081.4(CUBN):c.10466T>G (p.Phe3489Cys)
|
rs886046863
|
|
NM_001081.4(CUBN):c.10728C>G (p.Asn3576Lys)
|
rs368511477
|
|
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.10846G>A (p.Ala3616Thr)
|
rs564429505
|
|
NM_001081.4(CUBN):c.1110A>C (p.Leu370=)
|
rs886046878
|
|
NM_001081.4(CUBN):c.1405G>C (p.Val469Leu)
|
rs780440368
|
|
NM_001081.4(CUBN):c.2110+10C>G
|
rs752409034
|
|
NM_001081.4(CUBN):c.2110T>G (p.Ser704Ala)
|
rs2131865310
|
|
NM_001081.4(CUBN):c.2151T>C (p.Gly717=)
|
rs1836053318
|
|
NM_001081.4(CUBN):c.2446+14_2446+15del
|
rs752528712
|
|
NM_001081.4(CUBN):c.2447-15T>A
|
rs886046877
|
|
NM_001081.4(CUBN):c.2673C>T (p.Cys891=)
|
rs386833778
|
|
NM_001081.4(CUBN):c.3008+9_3008+12dup
|
rs772081536
|
|
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.3823C>T (p.Arg1275Trp)
|
rs189294363
|
|
NM_001081.4(CUBN):c.3931C>T (p.Arg1311Trp)
|
rs776683073
|
|
NM_001081.4(CUBN):c.4020C>G (p.Leu1340=)
|
rs769326338
|
|
NM_001081.4(CUBN):c.409A>C (p.Ser137Arg)
|
rs202053511
|
|
NM_001081.4(CUBN):c.4633A>C (p.Asn1545His)
|
rs1391948790
|
|
NM_001081.4(CUBN):c.489+14T>C
|
rs886046882
|
|
NM_001081.4(CUBN):c.5222C>A (p.Thr1741Lys)
|
rs144943516
|
|
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.5305G>C (p.Val1769Leu)
|
rs74116778
|
|
NM_001081.4(CUBN):c.5343-11C>T
|
rs777975604
|
|
NM_001081.4(CUBN):c.5343-6A>G
|
rs776579478
|
|
NM_001081.4(CUBN):c.5569G>A (p.Val1857Met)
|
rs886046873
|
|
NM_001081.4(CUBN):c.5840C>A (p.Ser1947Tyr)
|
rs147617753
|
|
NM_001081.4(CUBN):c.5961A>G (p.Ala1987=)
|
rs886046872
|
|
NM_001081.4(CUBN):c.6145C>A (p.Gln2049Lys)
|
rs141319759
|
|
NM_001081.4(CUBN):c.7316C>G (p.Ser2439Ter)
|
rs1564421451
|
|
NM_001081.4(CUBN):c.7352-7A>C
|
rs886046869
|
|
NM_001081.4(CUBN):c.7586G>A (p.Ser2529Asn)
|
rs886046868
|
|
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.8062+5G>A
|
rs886046866
|
|
NM_001081.4(CUBN):c.8219C>A (p.Thr2740Lys)
|
rs2131420801
|
|
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.827C>T (p.Thr276Ile)
|
rs886046881
|
|
NM_001081.4(CUBN):c.8831T>G (p.Met2944Arg)
|
rs544783535
|
|
NM_001081.4(CUBN):c.8977A>G (p.Thr2993Ala)
|
rs1408193576
|
|
NM_001081.4(CUBN):c.923A>C (p.Glu308Ala)
|
rs886046880
|
|
NM_001081.4(CUBN):c.9397A>C (p.Lys3133Gln)
|
rs1432636083
|
|
NM_001081.4(CUBN):c.9990A>C (p.Gln3330His)
|
rs1839305562
|
|
NM_001113378.2(FANCI):c.*614T>G
|
rs886051521
|
|
NM_001113378.2(FANCI):c.*662C>G
|
rs560246181
|
|
NM_001113378.2(FANCI):c.1703A>G (p.His568Arg)
|
rs555480773
|
|
NM_001113378.2(FANCI):c.1718G>A (p.Ser573Asn)
|
rs2053765806
|
|
NM_001113378.2(FANCI):c.1849T>C (p.Ser617Pro)
|
rs780031757
|
|
NM_001113378.2(FANCI):c.2021G>T (p.Cys674Phe)
|
rs886051511
|
|
NM_001113378.2(FANCI):c.2054T>C (p.Leu685Ser)
|
rs2054115728
|
|
NM_001113378.2(FANCI):c.3277G>A (p.Glu1093Lys)
|
rs758575911
|
|
NM_001113378.2(FANCI):c.3592-12C>T
|
rs2054775391
|
|
NM_001113378.2(FANCI):c.3651G>A (p.Gln1217=)
|
rs766147964
|
|
NM_001113378.2(FANCI):c.3652-10A>G
|
rs202231175
|
|
NM_001113378.2(FANCI):c.3687A>G (p.Lys1229=)
|
rs765168059
|
|
NM_001113378.2(FANCI):c.3718A>G (p.Met1240Val)
|
rs2055029234
|
|
NM_001113378.2(FANCI):c.3754A>G (p.Asn1252Asp)
|
rs1229086339
|
|
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.3925-84_3925-81dup
|
rs1444126104
|
|
NM_001113378.2(FANCI):c.606C>T (p.Phe202=)
|
rs886051508
|
|
NM_001113378.2(FANCI):c.669+17_669+18del
|
rs751881445
|
|
NM_001113378.2(FANCI):c.696A>T (p.Gly232=)
|
rs2052856419
|
|
NM_001113378.2(FANCI):c.701T>C (p.Ile234Thr)
|
rs1254032261
|
|
NM_001113378.2(FANCI):c.849T>A (p.Tyr283Ter)
|
rs760412752
|
|
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.1195T>C (p.Cys399Arg)
|
rs751034626
|
|
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.1318+3A>G
|
rs376358319
|
|
NM_001114134.2(EPB42):c.1386C>T (p.Asn462=)
|
rs199505318
|
|
NM_001114134.2(EPB42):c.1682del (p.Phe561fs)
|
rs775832353
|
|
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_001174125.2(SLC11A2):c.49+1757C>T
|
rs1057516023
|
|
NM_001243177.4(ALDOA):c.364G>C (p.Asp122His)
|
rs201468609
|
|
NM_001243177.4(ALDOA):c.437G>A (p.Arg146His)
|
rs747482925
|
|
NM_001243177.4(ALDOA):c.541+17del
|
rs886051891
|
|
NM_001243177.4(ALDOA):c.659A>G (p.Glu220Gly)
|
rs886051892
|
|
NM_001271696.3(ABCB7):c.1200T>C (p.Ile400=)
|
rs72554634
|
|
NM_001355436.2(SPTB):c.836A>C (p.Lys279Thr)
|
rs770880582
|
|
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.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.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.251G>C (p.Arg84Pro)
|
rs750512709
|
|
NM_001374504.1(TMPRSS6):c.549G>A (p.Arg183=)
|
rs964576902
|
|
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.928T>C (p.Tyr310His)
|
rs916375086
|
|
NM_001374504.1(TMPRSS6):c.957_958insGGAGACC (p.Pro320fs)
|
rs1569012596
|
|
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.159C>A (p.Asp53Glu)
|
rs72681995
|
|
NM_001386140.1(MTTP):c.1769+12T>C
|
rs767162951
|
|
NM_001386140.1(MTTP):c.2195T>C (p.Ile732Thr)
|
rs767606327
|
|
NM_001386140.1(MTTP):c.52T>A (p.Ser18Thr)
|
rs1724921174
|
|
NM_001386140.1(MTTP):c.782C>G (p.Thr261Ser)
|
rs1037319735
|
|
NM_001386140.1(MTTP):c.927G>A (p.Arg309=)
|
rs1001965936
|
|
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_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.1554T>C (p.His518=)
|
rs886045392
|
|
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.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.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.5304C>T (p.Ala1768=)
|
rs886045383
|
|
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.6236G>T (p.Arg2079Leu)
|
rs754206036
|
|
NM_003126.4(SPTA1):c.6421C>T (p.Arg2141Trp)
|
rs41273519
|
|
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_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.1027C>G (p.Gln343Glu)
|
rs1829085768
|
|
NM_004629.2(FANCG):c.1152A>C (p.Pro384=)
|
rs1487531031
|
|
NM_004629.2(FANCG):c.1157C>A (p.Pro386His)
|
rs141147618
|
|
NM_004629.2(FANCG):c.1345C>T (p.Pro449Ser)
|
rs1829066600
|
|
NM_004629.2(FANCG):c.1448T>C (p.Leu483Pro)
|
rs1829061760
|
|
NM_004629.2(FANCG):c.161dup (p.His55fs)
|
rs886063898
|
|
NM_004629.2(FANCG):c.1689G>C (p.Arg563=)
|
rs138855718
|
|
NM_004629.2(FANCG):c.292C>A (p.Arg98=)
|
rs532525154
|
|
NM_004629.2(FANCG):c.497T>C (p.Leu166Pro)
|
|
|
NM_004629.2(FANCG):c.736G>T (p.Val246Phe)
|
|
|
NM_004629.2(FANCG):c.957G>A (p.Pro319=)
|
rs145092954
|
|
NM_005142.3(CBLIF):c.1074-14A>G
|
rs541611142
|
|
NM_005142.3(CBLIF):c.138G>A (p.Ser46=)
|
rs200472519
|
|
NM_005142.3(CBLIF):c.232C>T (p.Gln78Ter)
|
rs1565210437
|
|
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.834G>C (p.Lys278Asn)
|
rs886048403
|
|
NM_005334.3(HCFC1):c.1355C>T (p.Ala452Val)
|
rs868948937
|
|
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.-8T>C
|
rs766083236
|
|
NM_006363.6(SEC23B):c.1201C>T (p.Arg401Ter)
|
rs1403456625
|
|
NM_006363.6(SEC23B):c.1607C>A (p.Ala536Glu)
|
rs535355543
|
|
NM_006363.6(SEC23B):c.202G>A (p.Ala68Thr)
|
rs2059977778
|
|
NM_006363.6(SEC23B):c.2244T>C (p.Asp748=)
|
rs748290215
|
|
NM_006363.6(SEC23B):c.708C>A (p.His236Gln)
|
rs748683327
|
|
NM_006363.6(SEC23B):c.791G>A (p.Arg264Gln)
|
rs148239360
|
|
NM_006363.6(SEC23B):c.85C>T (p.Leu29=)
|
rs886056525
|
|
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.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.1938C>G (p.His646Gln)
|
rs1721270142
|
|
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.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.518C>G (p.Ser173Cys)
|
rs758126745
|
|
NM_006996.3(SLC19A2):c.808-1G>A
|
rs1557889336
|
|
NM_006996.3(SLC19A2):c.845T>C (p.Leu282Pro)
|
rs886045529
|
|
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.166G>A (p.Val56Met)
|
rs1682767724
|
|
NM_015702.3(MMADHC):c.699T>C (p.Phe233=)
|
rs1682618008
|
|
NM_015702.3(MMADHC):c.735T>G (p.Thr245=)
|
rs530553915
|
|
NM_015702.3(MMADHC):c.73G>T (p.Val25Phe)
|
rs549522925
|
|
NM_015702.3(MMADHC):c.759A>T (p.Gly253=)
|
rs886054920
|
|
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.625G>A (p.Asp209Asn)
|
rs146864395
|
|
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.378T>A (p.Leu126=)
|
rs746200741
|
|
NM_018062.4(FANCL):c.524C>T (p.Ala175Val)
|
rs199966372
|
|
NM_018062.4(FANCL):c.533C>A (p.Thr178Lys)
|
rs1689674094
|
|
NM_018062.4(FANCL):c.5C>T (p.Ala2Val)
|
rs551142193
|
|
NM_018062.4(FANCL):c.776-10dup
|
rs374236117
|
|
NM_018062.4(FANCL):c.795T>C (p.Ile265=)
|
rs1685442755
|
|
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.160C>G (p.Leu54Val)
|
rs1402538766
|
|
NM_018368.4(LMBRD1):c.1611C>G (p.Val537=)
|
rs534280770
|
|
NM_018368.4(LMBRD1):c.582A>G (p.Ser194=)
|
rs1387756161
|
|
NM_018368.4(LMBRD1):c.981-14G>T
|
rs1324981458
|
|
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.2160+10A>G
|
rs767254996
|
|
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.-32A>T
|
rs1767142098
|
|
NM_021922.3(FANCE):c.1007T>C (p.Leu336Pro)
|
rs886061330
|
|
NM_021922.3(FANCE):c.1113+6T>C
|
rs764119752
|
|
NM_021922.3(FANCE):c.121C>T (p.Arg41Trp)
|
rs1767153896
|
|
NM_021922.3(FANCE):c.1263T>C (p.Cys421=)
|
rs747692546
|
|
NM_021922.3(FANCE):c.1378C>T (p.Arg460Trp)
|
rs200535245
|
|
NM_021922.3(FANCE):c.1593G>A (p.Leu531=)
|
rs886061332
|
|
NM_021922.3(FANCE):c.387A>T (p.Pro129=)
|
rs4713867
|
|
NM_021922.3(FANCE):c.480C>A (p.Cys160Ter)
|
rs45509302
|
|
NM_021922.3(FANCE):c.4G>C (p.Ala2Pro)
|
rs886061327
|
|
NM_021922.3(FANCE):c.929C>A (p.Pro310Gln)
|
rs139600847
|
|
NM_021922.3(FANCE):c.937C>T (p.Leu313=)
|
rs557021652
|
|
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.1006G>A (p.Asp336Asn)
|
rs886048157
|
|
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.261_263del (p.His88del)
|
rs886048158
|
|
NM_022725.4(FANCF):c.2T>C (p.Met1Thr)
|
rs745495865
|
|
NM_022725.4(FANCF):c.547G>C (p.Glu183Gln)
|
rs774728053
|
|
NM_024675.4(PALB2):c.-108C>A
|
rs180177140
|
|
NM_024675.4(PALB2):c.101G>A (p.Arg34His)
|
rs144944814
|
|
NM_024675.4(PALB2):c.113C>G (p.Ala38Gly)
|
rs371875379
|
|
NM_024675.4(PALB2):c.1415A>G (p.Gln472Arg)
|
rs867817029
|
|
NM_024675.4(PALB2):c.1684+11A>G
|
rs201368043
|
|
NM_024675.4(PALB2):c.2507_2509del (p.Val836del)
|
rs587782697
|
|
NM_024675.4(PALB2):c.2667T>A (p.Thr889=)
|
rs876659224
|
|
NM_024675.4(PALB2):c.2849C>T (p.Ser950Phe)
|
rs876659160
|
|
NM_024675.4(PALB2):c.2996+14T>G
|
rs1407045774
|
|
NM_024675.4(PALB2):c.3402T>A (p.Ser1134=)
|
rs1966403904
|
|
NM_024675.4(PALB2):c.388C>T (p.His130Tyr)
|
rs1555461809
|
|
NM_024675.4(PALB2):c.66A>G (p.Ala22=)
|
rs1057520982
|
|
NM_024675.4(PALB2):c.733G>C (p.Ala245Pro)
|
rs886051831
|
|
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.423C>A (p.Arg141=)
|
rs371752870
|
|
NM_025215.6(PUS1):c.937G>A (p.Val313Met)
|
rs140088613
|
|
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.1652C>T (p.Ala551Val)
|
rs375246789
|
|
NM_032043.3(BRIP1):c.1774T>G (p.Trp592Gly)
|
rs587780231
|
|
NM_032043.3(BRIP1):c.1935+5GTT[2]
|
rs730881641
|
|
NM_032043.3(BRIP1):c.2301G>C (p.Glu767Asp)
|
rs369434185
|
|
NM_032043.3(BRIP1):c.2741T>C (p.Leu914Ser)
|
rs886053215
|
|
NM_032043.3(BRIP1):c.2829C>A (p.Val943=)
|
rs767164240
|
|
NM_032043.3(BRIP1):c.3020C>A (p.Ser1007Tyr)
|
rs886053214
|
|
NM_032043.3(BRIP1):c.3203C>T (p.Pro1068Leu)
|
rs2061316462
|
|
NM_032043.3(BRIP1):c.3251C>G (p.Thr1084Ser)
|
rs876660768
|
|
NM_032043.3(BRIP1):c.54T>C (p.Pro18=)
|
rs886053216
|
|
NM_032043.3(BRIP1):c.82A>G (p.Met28Val)
|
rs1330147176
|
|
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.1110T>C (p.Ala370=)
|
rs886051981
|
|
NM_032444.4(SLX4):c.1193G>C (p.Arg398Pro)
|
rs200030312
|
|
NM_032444.4(SLX4):c.1325G>C (p.Arg442Thr)
|
rs886051979
|
|
NM_032444.4(SLX4):c.1898G>T (p.Gly633Val)
|
rs1056085
|
|
NM_032444.4(SLX4):c.2057A>G (p.Asn686Ser)
|
rs571330689
|
|
NM_032444.4(SLX4):c.2187A>G (p.Val729=)
|
rs2040609293
|
|
NM_032444.4(SLX4):c.2328-11T>C
|
rs1390856264
|
|
NM_032444.4(SLX4):c.2688G>A (p.Val896=)
|
rs758166923
|
|
NM_032444.4(SLX4):c.2882C>T (p.Pro961Leu)
|
rs886051978
|
|
NM_032444.4(SLX4):c.3027C>T (p.Gly1009=)
|
rs1278706933
|
|
NM_032444.4(SLX4):c.360T>C (p.Thr120=)
|
rs886051982
|
|
NM_032444.4(SLX4):c.4057C>A (p.His1353Asn)
|
rs142205392
|
|
NM_032444.4(SLX4):c.421G>T (p.Gly141Trp)
|
rs137976282
|
|
NM_032444.4(SLX4):c.426T>A (p.Gly142=)
|
rs377500336
|
|
NM_032444.4(SLX4):c.4580C>A (p.Pro1527Gln)
|
rs149362820
|
|
NM_032444.4(SLX4):c.4650GAA[2] (p.Lys1552del)
|
rs760517738
|
|
NM_032444.4(SLX4):c.4918G>C (p.Gly1640Arg)
|
rs368102037
|
|
NM_032444.4(SLX4):c.5027C>T (p.Thr1676Ile)
|
rs377544881
|
|
NM_032444.4(SLX4):c.5040G>C (p.Arg1680Ser)
|
rs199592185
|
|
NM_032444.4(SLX4):c.506C>T (p.Ser169Leu)
|
rs776018346
|
|
NM_032444.4(SLX4):c.5153+6C>A
|
rs754209356
|
|
NM_032444.4(SLX4):c.5325C>G (p.Pro1775=)
|
rs1596514559
|
|
NM_032444.4(SLX4):c.5418C>G (p.Ile1806Met)
|
rs886051976
|
|
NM_032444.4(SLX4):c.561G>T (p.Gln187His)
|
rs778738306
|
|
NM_032444.4(SLX4):c.738A>G (p.Gln246=)
|
rs905819290
|
|
NM_032444.4(SLX4):c.786A>G (p.Pro262=)
|
rs2040736285
|
|
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.280-11_280-10del
|
rs756756010
|
|
NM_033022.4(RPS24):c.4-7T>C
|
rs1847840052
|
|
NM_058216.3(RAD51C):c.404+13G>A
|
rs547506164
|
|
NM_058216.3(RAD51C):c.822T>G (p.Asn274Lys)
|
rs2048501654
|
|
NM_058216.3(RAD51C):c.87T>C (p.Ser29=)
|
rs786203249
|
|
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.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_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.1322C>T (p.Ala441Val)
|
rs886051158
|
|
NM_138477.4(CDAN1):c.1489AGCCAC[3] (p.497SH[3])
|
rs778227051
|
|
NM_138477.4(CDAN1):c.1740-10T>A
|
rs886051157
|
|
NM_138477.4(CDAN1):c.1790A>G (p.Glu597Gly)
|
rs778169314
|
|
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.2080C>T (p.Pro694Ser)
|
rs2061599288
|
|
NM_138477.4(CDAN1):c.2174+11C>T
|
rs749464836
|
|
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.255G>A (p.Arg85=)
|
rs886051159
|
|
NM_138477.4(CDAN1):c.257C>T (p.Pro86Leu)
|
rs1442095399
|
|
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.274G>C (p.Gly92Arg)
|
rs1051388342
|
|
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.3205-5C>A
|
rs772939236
|
|
NM_138477.4(CDAN1):c.333C>T (p.Ala111=)
|
rs1320661924
|
|
NM_138477.4(CDAN1):c.774-3T>C
|
rs756901380
|
|
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_198253.3(TERT):c.*308A>G
|
rs1747469600
|
|
NM_198253.3(TERT):c.1269C>T (p.Ala423=)
|
rs190411812
|
|
NM_198253.3(TERT):c.1401C>T (p.Ala467=)
|
rs1751126189
|
|
NM_198253.3(TERT):c.2003A>C (p.Glu668Ala)
|
rs1749859084
|
|
NM_198253.3(TERT):c.2523C>G (p.Leu841=)
|
rs1554039733
|
|
NM_198253.3(TERT):c.2626C>A (p.His876Asn)
|
rs1483412488
|
|
NM_198253.3(TERT):c.3191C>T (p.Pro1064Leu)
|
rs886059831
|
|
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.875C>G (p.Thr292Arg)
|
rs1751193051
|
|
NM_198253.3(TERT):c.908A>T (p.His303Leu)
|
rs1751187792
|
|
NM_206965.2(FTCD):c.1540-17_1540-16del
|
rs747091513
|
|
NM_206965.2(FTCD):c.766_767del (p.Glu256fs)
|
rs1568979227
|
|
NM_206965.2(FTCD):c.997del (p.Arg333fs)
|
rs1568974130
|
|