NM_000135.4(FANCA):c.1360-203=
|
rs7202091
|
0.99993
|
NM_000135.4(FANCA):c.1225+151T>C
|
rs6500451
|
0.97075
|
NM_000135.4(FANCA):c.2316+67A>G
|
rs7200990
|
0.97043
|
NM_000135.4(FANCA):c.596+216C>T
|
rs7202331
|
0.95743
|
NM_000135.4(FANCA):c.596+224del
|
rs68094133
|
0.95459
|
NM_000135.4(FANCA):c.710-12A>G
|
rs1800286
|
0.71452
|
NM_000135.4(FANCA):c.3066+236C>G
|
rs3743862
|
0.71317
|
NM_000135.4(FANCA):c.793-114T>C
|
rs7186192
|
0.65079
|
NM_000135.4(FANCA):c.3239+357A>G
|
rs8043882
|
0.54329
|
NM_000135.4(FANCA):c.1226-80T>C
|
rs6500450
|
0.53395
|
NM_000135.4(FANCA):c.1084-181G>C
|
rs6500453
|
0.53387
|
NM_000135.4(FANCA):c.1084-49G>C
|
rs1800287
|
0.53385
|
NM_000135.4(FANCA):c.1359+263T>C
|
rs8045232
|
0.53323
|
NM_000135.4(FANCA):c.1827-151A>C
|
rs1558184
|
0.52921
|
NM_000135.4(FANCA):c.596+74G>A
|
rs1800285
|
0.52593
|
NM_000135.4(FANCA):c.796A>G (p.Thr266Ala)
|
rs7190823
|
0.52564
|
NM_000135.4(FANCA):c.893+332A>G
|
rs10852623
|
0.52208
|
NM_000135.4(FANCA):c.2222+107T>C
|
rs886951
|
0.51679
|
NM_000135.4(FANCA):c.1501G>A (p.Gly501Ser)
|
rs2239359
|
0.51262
|
NM_000135.4(FANCA):c.1826+15T>C
|
rs1800337
|
0.51138
|
NM_000135.4(FANCA):c.2505-129G>C
|
rs7203907
|
0.51112
|
NM_000135.4(FANCA):c.2222+100A>G
|
rs886950
|
0.51061
|
NM_000135.4(FANCA):c.1471-119A>T
|
rs12448860
|
0.50554
|
NM_000135.4(FANCA):c.1715+82T>C
|
rs1800335
|
0.50497
|
NM_000135.4(FANCA):c.1715+227G>A
|
rs3743859
|
0.50220
|
NM_000135.4(FANCA):c.1826+99T>A
|
rs7187436
|
0.50149
|
NM_000135.4(FANCA):c.3066+55A>G
|
rs3743860
|
0.46680
|
NM_000135.4(FANCA):c.2426G>A (p.Gly809Asp)
|
rs7195066
|
0.46389
|
NM_000135.4(FANCA):c.1471-73G>A
|
rs2239360
|
0.45821
|
NM_000135.4(FANCA):c.284-241G>A
|
rs11859183
|
0.45715
|
NM_000135.4(FANCA):c.596+143T>G
|
rs11076627
|
0.45367
|
NM_000135.4(FANCA):c.1359+189A>G
|
rs1057042
|
0.41787
|
NM_000135.4(FANCA):c.2981+232A>G
|
rs12709093
|
0.41398
|
NM_000135.4(FANCA):c.1900+121G>C
|
rs3785275
|
0.41127
|
NM_000135.4(FANCA):c.3240-42G>A
|
rs1800345
|
0.40844
|
NM_000135.4(FANCA):c.79+119G>A
|
rs72631431
|
0.40299
|
NM_000135.4(FANCA):c.79+138C>A
|
rs78004870
|
0.40194
|
NM_000135.4(FANCA):c.1007-53C>T
|
rs3856
|
0.39752
|
NM_000135.4(FANCA):c.1084-29A>G
|
rs6500452
|
0.39672
|
NM_000135.4(FANCA):c.3514-317A>G
|
rs4785718
|
0.31239
|
NM_000135.4(FANCA):c.3627-203T>C
|
rs2286392
|
0.13141
|
NM_000135.4(FANCA):c.3626+216T>C
|
rs12918575
|
0.12851
|
NM_000135.4(FANCA):c.3654A>G (p.Pro1218=)
|
rs1800358
|
0.12784
|
NM_000135.4(FANCA):c.3348+260A>G
|
rs8058895
|
0.12079
|
NM_000135.4(FANCA):c.1006+112G>A
|
rs17226075
|
0.11964
|
NM_000135.4(FANCA):c.1083+120G>A
|
rs17226159
|
0.11919
|
NM_000135.4(FANCA):c.3513+214C>T
|
rs45524337
|
0.11725
|
NM_000135.4(FANCA):c.2015-319G>A
|
rs1007932
|
0.10417
|
NM_000135.4(FANCA):c.3626+158G>A
|
rs17233623
|
0.09455
|
NM_000135.4(FANCA):c.3066+281C>T
|
rs11646910
|
0.08980
|
NM_000135.4(FANCA):c.3514-342A>G
|
rs62054603
|
0.07626
|
NM_000135.4(FANCA):c.709+312C>T
|
rs17232309
|
0.07106
|
NM_000135.4(FANCA):c.1143G>T (p.Thr381=)
|
rs1800331
|
0.06866
|
NM_000135.4(FANCA):c.2222+73A>G
|
rs1800341
|
0.06356
|
NM_000135.4(FANCA):c.1826+98A>G
|
rs11642010
|
0.06195
|
NM_000135.4(FANCA):c.597-328_597-327insA
|
rs202228910
|
0.06152
|
NM_000135.4(FANCA):c.597-327_597-326insT
|
rs200929939
|
0.06136
|
NM_000135.4(FANCA):c.894-8A>G
|
rs11648881
|
0.06110
|
NM_000135.4(FANCA):c.427-59A>G
|
rs2074963
|
0.06105
|
NM_000135.4(FANCA):c.1007-80C>T
|
rs17232533
|
0.06012
|
NM_000135.4(FANCA):c.2852+137T>C
|
rs12933317
|
0.05974
|
NM_000135.4(FANCA):c.1927C>G (p.Pro643Ala)
|
rs17232910
|
0.05919
|
NM_000135.4(FANCA):c.1777-29T>C
|
rs2302162
|
0.05904
|
NM_000135.4(FANCA):c.1901-62A>G
|
rs17226519
|
0.05895
|
NM_000135.4(FANCA):c.1827-256A>G
|
rs17232840
|
0.05893
|
NM_000135.4(FANCA):c.1901-184A>G
|
rs17226512
|
0.05891
|
NM_000135.4(FANCA):c.2152-284A>G
|
rs11645240
|
0.05888
|
NM_000135.4(FANCA):c.2014+42G>T
|
rs1800339
|
0.05887
|
NM_000135.4(FANCA):c.2853-225T>C
|
rs17226966
|
0.05883
|
NM_000135.4(FANCA):c.2982-278G>A
|
rs12599846
|
0.05882
|
NM_000135.4(FANCA):c.2853-135A>G
|
rs17226973
|
0.05880
|
NM_000135.4(FANCA):c.2151+135A>G
|
rs11076622
|
0.05874
|
NM_000135.4(FANCA):c.2779-7T>C
|
rs17233253
|
0.05872
|
NM_000135.4(FANCA):c.2151+159T>C
|
rs11076621
|
0.05871
|
NM_000135.4(FANCA):c.2901C>T (p.Ser967=)
|
rs17226980
|
0.05869
|
NM_000135.4(FANCA):c.3067-57A>C
|
rs1800344
|
0.05869
|
NM_000135.4(FANCA):c.3627-202G>T
|
rs2286393
|
0.05862
|
NM_000135.4(FANCA):c.3239+314C>T
|
rs45524643
|
0.05861
|
NM_000135.4(FANCA):c.3067-4T>C
|
rs17227064
|
0.05860
|
NM_000135.4(FANCA):c.3240-146G>A
|
rs17227085
|
0.05860
|
NM_000135.4(FANCA):c.3067-23G>A
|
rs17227057
|
0.05859
|
NM_000135.4(FANCA):c.3067-114C>A
|
rs17233448
|
0.05858
|
NM_000135.4(FANCA):c.3349-291G>A
|
rs11641147
|
0.05858
|
NM_000135.4(FANCA):c.3765+37G>A
|
rs34420680
|
0.05858
|
NM_000135.4(FANCA):c.3514-67T>C
|
rs2074904
|
0.05854
|
NM_000135.4(FANCA):c.3514-184A>G
|
rs2074903
|
0.05849
|
NM_000135.4(FANCA):c.2602-84G>A
|
rs12600151
|
0.05842
|
NM_000135.4(FANCA):c.3513+57G>A
|
rs17233595
|
0.05841
|
NM_000135.4(FANCA):c.1235C>T (p.Ala412Val)
|
rs11646374
|
0.05837
|
NM_000135.4(FANCA):c.1470+258T>C
|
rs11649510
|
0.05833
|
NM_000135.4(FANCA):c.1470+83G>A
|
rs17232630
|
0.05832
|
NM_000135.4(FANCA):c.1470+305T>A
|
rs11649501
|
0.05830
|
NM_000135.4(FANCA):c.1006+159C>G
|
rs17226082
|
0.05584
|
NM_000135.4(FANCA):c.3513+62C>T
|
rs34019730
|
0.05570
|
NM_000135.4(FANCA):c.190-173del
|
rs17225740
|
0.05479
|
NM_000135.4(FANCA):c.1360-202T>C
|
rs17226232
|
0.05341
|
NM_000135.4(FANCA):c.3263C>T (p.Ser1088Phe)
|
rs17233497
|
0.05303
|
NM_000135.4(FANCA):c.284-67C>G
|
rs17232190
|
0.05130
|
NM_000135.4(FANCA):c.427-25T>A
|
rs9282685
|
0.05123
|
NM_000135.4(FANCA):c.542C>T (p.Ala181Val)
|
rs17232246
|
0.04972
|
NM_000135.4(FANCA):c.3514-272G>C
|
rs62054601
|
0.04914
|
NM_000135.4(FANCA):c.2982-102G>C
|
rs12931267
|
0.04744
|
NM_000135.4(FANCA):c.3067-202A>C
|
rs112307457
|
0.03438
|
NM_000135.4(FANCA):c.1941G>A (p.Glu647=)
|
rs17232917
|
0.03300
|
NM_000135.4(FANCA):c.1360-7C>T
|
rs17232616
|
0.03003
|
NM_000135.4(FANCA):c.3348+18A>G
|
rs1800347
|
0.02828
|
NM_000135.4(FANCA):c.3349-158G>A
|
rs17227170
|
0.02266
|
NM_000135.4(FANCA):c.2151G>T (p.Met717Ile)
|
rs1131660
|
0.02234
|
NM_000135.4(FANCA):c.522+152C>G
|
rs11648309
|
0.02146
|
NM_000135.4(FANCA):c.283+84T>C
|
rs17232120
|
0.02109
|
NC_000016.10:g.89816927C>G
|
rs34784792
|
0.02075
|
NM_000135.4(FANCA):c.755A>G (p.Asp252Gly)
|
rs17225943
|
0.01851
|
NM_000135.4(FANCA):c.80-164C>T
|
rs111818726
|
0.01824
|
NM_000135.4(FANCA):c.1470+67C>G
|
rs17232623
|
0.01619
|
NM_000135.4(FANCA):c.80-215C>A
|
rs34411624
|
0.01378
|
NM_000135.4(FANCA):c.1716-215C>T
|
rs17226351
|
0.01308
|
NM_000135.4(FANCA):c.2981+272A>G
|
rs17233378
|
0.01218
|
NM_000135.4(FANCA):c.1627-32T>C
|
rs17226337
|
0.01179
|
NM_000135.4(FANCA):c.893+242G>A
|
rs45446001
|
0.01177
|
NM_000135.4(FANCA):c.893+741C>T
|
rs17226033
|
0.01167
|
NM_000135.4(FANCA):c.792+263A>G
|
rs17225957
|
0.01143
|
NM_000135.4(FANCA):c.597-327C>A
|
rs17225908
|
0.01127
|
NM_000135.4(FANCA):c.894-293C>T
|
rs73266600
|
0.01088
|
NM_000135.4(FANCA):c.2504+161T>C
|
rs17233050
|
0.01083
|
NM_000135.4(FANCA):c.893+263A>G
|
rs17226026
|
0.01073
|
NM_000135.4(FANCA):c.3766-142T>C
|
rs17227326
|
0.01049
|
NM_000135.4(FANCA):c.1007-148T>C
|
rs17232526
|
0.01048
|
NM_000135.4(FANCA):c.2316+65C>G
|
rs1800343
|
0.01048
|
NM_000135.4(FANCA):c.1007-299A>T
|
rs17226138
|
0.01046
|
NM_000135.4(FANCA):c.2779-53G>A
|
rs17233239
|
0.01032
|
NM_000135.4(FANCA):c.709+58G>A
|
rs34010191
|
0.00924
|
NM_000135.4(FANCA):c.601C>T (p.Pro201Ser)
|
rs144917960
|
0.00895
|
NM_000135.4(FANCA):c.1084-146G>A
|
rs74033878
|
0.00891
|
NM_000135.4(FANCA):c.2152-96C>A
|
rs7199740
|
0.00871
|
NM_000135.4(FANCA):c.2015-151C>G
|
rs17226575
|
0.00861
|
NM_000135.4(FANCA):c.793-131C>T
|
rs34427386
|
0.00772
|
NM_000135.4(FANCA):c.2505-70C>G
|
rs17233134
|
0.00749
|
NM_000135.4(FANCA):c.522+116T>C
|
rs17225810
|
0.00605
|
NM_000135.4(FANCA):c.1083+142G>A
|
rs146920936
|
0.00590
|
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg)
|
rs17233141
|
0.00567
|
NM_000135.4(FANCA):c.1359+10C>T
|
rs34159559
|
0.00557
|
NM_000135.4(FANCA):c.1826+12C>T
|
rs183513839
|
0.00518
|
NM_000135.4(FANCA):c.894-186C>G
|
rs17232463
|
0.00502
|
NM_000135.4(FANCA):c.2015-249C>T
|
rs17226568
|
0.00488
|
NM_000135.4(FANCA):c.2852+133C>G
|
rs17233260
|
0.00479
|
NM_000135.4(FANCA):c.1900+114C>G
|
rs17226456
|
0.00465
|
NM_000135.4(FANCA):c.1715+131G>A
|
rs17232749
|
0.00461
|
NM_000135.4(FANCA):c.2602-273C>T
|
rs17226792
|
0.00448
|
NM_000135.4(FANCA):c.903G>T (p.Val301=)
|
rs56062548
|
0.00432
|
NM_000135.4(FANCA):c.1007-193G>A
|
rs189906905
|
0.00403
|
NM_000135.4(FANCA):c.3627-119C>T
|
rs17233706
|
0.00348
|
NM_000135.4(FANCA):c.2216C>T (p.Pro739Leu)
|
rs45441106
|
0.00341
|
NM_000135.4(FANCA):c.1626+185C>A
|
rs142972042
|
0.00335
|
NM_000135.4(FANCA):c.932T>C (p.Ile311Thr)
|
rs75501942
|
0.00334
|
NM_000135.4(FANCA):c.523-215G>A
|
rs142301122
|
0.00329
|
NM_000135.4(FANCA):c.1626+16C>T
|
rs1800333
|
0.00322
|
NM_000135.4(FANCA):c.857A>G (p.Gln286Arg)
|
rs13336566
|
0.00303
|
NM_000135.4(FANCA):c.827-31A>G
|
rs150197645
|
0.00295
|
NM_000135.4(FANCA):c.3513+159T>C
|
rs138337622
|
0.00284
|
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser)
|
rs139235751
|
0.00230
|
NM_000135.4(FANCA):c.3514-4A>G
|
rs149388130
|
0.00219
|
NM_000135.4(FANCA):c.1830A>G (p.Ala610=)
|
rs1800338
|
0.00201
|
NM_000135.4(FANCA):c.694A>C (p.Arg232=)
|
rs61757384
|
0.00184
|
NM_000135.4(FANCA):c.3584G>A (p.Arg1195Gln)
|
rs138013482
|
0.00166
|
NM_000135.4(FANCA):c.1471-12A>G
|
rs9282684
|
0.00163
|
NM_000135.4(FANCA):c.754G>A (p.Asp252Asn)
|
rs111944585
|
0.00158
|
NM_000135.4(FANCA):c.2977C>A (p.Gln993Lys)
|
rs140823801
|
0.00137
|
NM_000135.4(FANCA):c.2859C>G (p.Asp953Glu)
|
rs149112292
|
0.00125
|
NM_000135.4(FANCA):c.80-13C>T
|
rs189841793
|
0.00110
|
NM_000135.4(FANCA):c.893+58A>T
|
rs199624319
|
0.00094
|
NM_000135.4(FANCA):c.3524C>T (p.Pro1175Leu)
|
rs147017625
|
0.00083
|
NM_000135.4(FANCA):c.2391G>A (p.Ala797=)
|
rs147882314
|
0.00076
|
NM_000135.4(FANCA):c.2364C>T (p.Ala788=)
|
rs149754397
|
0.00064
|
NM_000135.4(FANCA):c.3514-13G>A
|
rs200270574
|
0.00056
|
NM_000135.4(FANCA):c.1047G>A (p.Ala349=)
|
rs144900606
|
0.00053
|
NM_000135.4(FANCA):c.3183C>T (p.Ser1061=)
|
rs1800346
|
0.00053
|
NM_000135.4(FANCA):c.893+19C>G
|
rs377406711
|
0.00051
|
NM_000135.4(FANCA):c.3427C>G (p.Leu1143Val)
|
rs61753269
|
0.00048
|
NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp)
|
rs143671872
|
0.00047
|
NM_000135.4(FANCA):c.437C>G (p.Ser146Cys)
|
rs141367100
|
0.00042
|
NM_000135.4(FANCA):c.3412C>G (p.Leu1138Val)
|
rs138417003
|
0.00041
|
NM_000135.4(FANCA):c.1904C>T (p.Ala635Val)
|
rs142217479
|
0.00037
|
NM_000135.4(FANCA):c.3583C>T (p.Arg1195Trp)
|
rs143642304
|
0.00035
|
NM_000135.4(FANCA):c.480G>A (p.Met160Ile)
|
rs200603300
|
0.00031
|
NM_000135.4(FANCA):c.2478G>A (p.Thr826=)
|
rs147283549
|
0.00030
|
NM_000135.4(FANCA):c.1340C>T (p.Ser447Leu)
|
rs149551759
|
0.00029
|
NM_000135.4(FANCA):c.577C>G (p.Leu193Val)
|
rs141861208
|
0.00029
|
NM_000135.4(FANCA):c.2390C>T (p.Ala797Val)
|
rs138248569
|
0.00026
|
NM_000135.4(FANCA):c.2101A>G (p.Lys701Glu)
|
rs56369086
|
0.00025
|
NM_000135.4(FANCA):c.2799A>G (p.Leu933=)
|
rs148250597
|
0.00025
|
NM_000135.4(FANCA):c.399C>T (p.His133=)
|
rs56190097
|
0.00025
|
NM_000135.4(FANCA):c.1871C>G (p.Ala624Gly)
|
rs146491000
|
0.00022
|
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_000135.4(FANCA):c.308C>T (p.Ser103Leu)
|
rs147176389
|
0.00017
|
NM_000135.4(FANCA):c.874C>G (p.His292Asp)
|
rs200220791
|
0.00017
|
NM_000135.4(FANCA):c.2504+6C>G
|
rs749556479
|
0.00016
|
NM_000135.4(FANCA):c.3348+7G>T
|
rs185527578
|
0.00016
|
NM_000135.4(FANCA):c.3409-9C>G
|
rs368943794
|
0.00016
|
NM_000135.4(FANCA):c.200C>A (p.Pro67Gln)
|
rs200698961
|
0.00014
|
NM_000135.4(FANCA):c.2949T>G (p.Ile983Met)
|
rs188695241
|
0.00014
|
NM_000135.4(FANCA):c.3240-11C>G
|
rs138826926
|
0.00014
|
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln)
|
rs755922289
|
0.00013
|
NM_000135.4(FANCA):c.3637C>G (p.Pro1213Ala)
|
rs200713354
|
0.00013
|
NM_000135.4(FANCA):c.105T>C (p.Tyr35=)
|
rs747928827
|
0.00011
|
NM_000135.4(FANCA):c.1536A>C (p.Ser512=)
|
rs766580461
|
0.00011
|
NM_000135.4(FANCA):c.1549C>T (p.Arg517Trp)
|
rs587778309
|
0.00011
|
NM_000135.4(FANCA):c.2029G>A (p.Val677Met)
|
rs767396631
|
0.00011
|
NM_000135.4(FANCA):c.2236G>T (p.Ala746Ser)
|
rs575108446
|
0.00011
|
NM_000135.4(FANCA):c.2842G>C (p.Asp948His)
|
rs778254482
|
0.00011
|
NM_000135.4(FANCA):c.3099C>A (p.Asp1033Glu)
|
rs139289675
|
0.00011
|
NM_000135.4(FANCA):c.3157C>T (p.Arg1053Cys)
|
rs376103033
|
0.00011
|
NM_000135.4(FANCA):c.1281G>C (p.Met427Ile)
|
rs747322973
|
0.00010
|
NM_000135.4(FANCA):c.1614G>A (p.Gly538=)
|
rs747421581
|
0.00010
|
NM_000135.4(FANCA):c.1755C>G (p.Pro585=)
|
rs144704750
|
0.00010
|
NM_000135.4(FANCA):c.2089G>A (p.Val697Ile)
|
rs376888740
|
0.00010
|
NM_000135.4(FANCA):c.1900+7T>A
|
rs377401016
|
0.00009
|
NM_000135.4(FANCA):c.3138C>T (p.His1046=)
|
rs150884376
|
0.00009
|
NM_000135.4(FANCA):c.2856G>C (p.Gln952His)
|
rs200093209
|
0.00008
|
NM_000135.4(FANCA):c.3644C>A (p.Ala1215Asp)
|
rs199601218
|
0.00008
|
NM_000135.4(FANCA):c.869C>A (p.Ser290Tyr)
|
rs185984960
|
0.00008
|
NM_000135.4(FANCA):c.1006+4G>C
|
rs201771215
|
0.00007
|
NM_000135.4(FANCA):c.2981+4dup
|
rs75004096
|
0.00007
|
NM_000135.4(FANCA):c.3420C>T (p.Asn1140=)
|
rs369765552
|
0.00007
|
NM_000135.4(FANCA):c.685G>A (p.Asp229Asn)
|
rs148419748
|
0.00007
|
NM_000135.4(FANCA):c.1226-4C>G
|
rs934483477
|
0.00006
|
NM_000135.4(FANCA):c.1312G>A (p.Ala438Thr)
|
rs752587443
|
0.00006
|
NM_000135.4(FANCA):c.1734C>T (p.Tyr578=)
|
rs762647468
|
0.00006
|
NM_000135.4(FANCA):c.1901-10C>T
|
rs766654290
|
0.00006
|
NM_000135.4(FANCA):c.3031C>T (p.Arg1011Cys)
|
rs142377616
|
0.00006
|
NM_000135.4(FANCA):c.3230T>A (p.Met1077Lys)
|
rs776603588
|
0.00006
|
NM_000135.4(FANCA):c.3349A>G (p.Arg1117Gly)
|
rs149277003
|
0.00006
|
NM_000135.4(FANCA):c.3624C>T (p.Ser1208=)
|
rs149797103
|
0.00006
|
NM_000135.4(FANCA):c.661A>G (p.Met221Val)
|
rs150924963
|
0.00006
|
NM_000135.4(FANCA):c.862G>T (p.Glu288Ter)
|
rs148100796
|
0.00006
|
NM_000135.4(FANCA):c.2080G>A (p.Asp694Asn)
|
rs201589909
|
0.00005
|
NM_000135.4(FANCA):c.2316+9C>G
|
rs776301232
|
0.00005
|
NM_000135.4(FANCA):c.2317-8C>T
|
rs753766357
|
0.00005
|
NM_000135.4(FANCA):c.2778+10C>T
|
rs371786839
|
0.00005
|
NM_000135.4(FANCA):c.1008A>G (p.Ala336=)
|
rs1460026241
|
0.00004
|
NM_000135.4(FANCA):c.1359+5G>C
|
rs183569738
|
0.00004
|
NM_000135.4(FANCA):c.1424C>T (p.Thr475Met)
|
rs761957732
|
0.00004
|
NM_000135.4(FANCA):c.2507T>A (p.Phe836Tyr)
|
rs142869950
|
0.00004
|
NM_000135.4(FANCA):c.2567T>C (p.Leu856Ser)
|
rs370085403
|
0.00004
|
NM_000135.4(FANCA):c.2706C>G (p.Asp902Glu)
|
rs587778315
|
0.00004
|
NM_000135.4(FANCA):c.3032G>A (p.Arg1011His)
|
rs200022826
|
0.00004
|
NM_000135.4(FANCA):c.3261G>A (p.Ser1087=)
|
rs139126509
|
0.00004
|
NM_000135.4(FANCA):c.3434G>A (p.Ser1145Asn)
|
rs375630115
|
0.00004
|
NM_000135.4(FANCA):c.3665C>T (p.Pro1222Leu)
|
rs374537936
|
0.00004
|
NM_000135.4(FANCA):c.3669C>T (p.Asp1223=)
|
rs187074190
|
0.00004
|
NM_000135.4(FANCA):c.3693C>T (p.His1231=)
|
rs144524132
|
0.00004
|
NM_000135.4(FANCA):c.445T>G (p.Leu149Val)
|
rs372814783
|
0.00004
|
NM_000135.4(FANCA):c.596+6G>A
|
rs369548513
|
0.00004
|
NM_000135.4(FANCA):c.793-9T>C
|
rs757500718
|
0.00004
|
NM_000135.4(FANCA):c.135A>G (p.Glu45=)
|
rs141820040
|
0.00003
|
NM_000135.4(FANCA):c.1445C>G (p.Pro482Arg)
|
rs768676657
|
0.00003
|
NM_000135.4(FANCA):c.1459C>T (p.Arg487Trp)
|
rs143083764
|
0.00003
|
NM_000135.4(FANCA):c.1593C>T (p.Tyr531=)
|
rs762342197
|
0.00003
|
NM_000135.4(FANCA):c.1901-9T>C
|
rs886052486
|
0.00003
|
NM_000135.4(FANCA):c.1964C>G (p.Ala655Gly)
|
rs1306842168
|
0.00003
|
NM_000135.4(FANCA):c.2014+12T>A
|
rs370998253
|
0.00003
|
NM_000135.4(FANCA):c.2944A>G (p.Thr982Ala)
|
rs587778317
|
0.00003
|
NM_000135.4(FANCA):c.2958C>T (p.Asn986=)
|
rs368953287
|
0.00003
|
NM_000135.4(FANCA):c.3184G>A (p.Gly1062Arg)
|
rs142379991
|
0.00003
|
NM_000135.4(FANCA):c.3297G>C (p.Gln1099His)
|
rs779268656
|
0.00003
|
NM_000135.4(FANCA):c.3627-8T>G
|
rs77877981
|
0.00003
|
NM_000135.4(FANCA):c.3666G>A (p.Pro1222=)
|
rs780031277
|
0.00003
|
NM_000135.4(FANCA):c.3761A>T (p.Glu1254Val)
|
rs750773229
|
0.00003
|
NM_000135.4(FANCA):c.553C>A (p.Leu185Ile)
|
rs587778323
|
0.00003
|
NM_000135.4(FANCA):c.81G>A (p.Ala27=)
|
rs150247726
|
0.00003
|
NM_000135.4(FANCA):c.1007-3C>T
|
rs557382436
|
0.00002
|
NM_000135.4(FANCA):c.1038G>C (p.Trp346Cys)
|
rs750257902
|
0.00002
|
NM_000135.4(FANCA):c.1303C>T (p.Arg435Cys)
|
rs148473140
|
0.00002
|
NM_000135.4(FANCA):c.190-2A>T
|
rs183350210
|
0.00002
|
NM_000135.4(FANCA):c.2094G>C (p.Glu698Asp)
|
rs201672093
|
0.00002
|
NM_000135.4(FANCA):c.2778+1G>A
|
rs140180549
|
0.00002
|
NM_000135.4(FANCA):c.2979A>G (p.Gln993=)
|
rs761577170
|
0.00002
|
NM_000135.4(FANCA):c.3181A>G (p.Ser1061Gly)
|
rs369878171
|
0.00002
|
NM_000135.4(FANCA):c.3197C>T (p.Ala1066Val)
|
rs1419279017
|
0.00002
|
NM_000135.4(FANCA):c.3260C>T (p.Ser1087Leu)
|
rs376089640
|
0.00002
|
NM_000135.4(FANCA):c.3482C>T (p.Thr1161Met)
|
rs142833057
|
0.00002
|
NM_000135.4(FANCA):c.3726C>G (p.Ile1242Met)
|
rs972127356
|
0.00002
|
NM_000135.4(FANCA):c.401C>T (p.Pro134Leu)
|
rs143570168
|
0.00002
|
NM_000135.4(FANCA):c.559G>A (p.Val187Ile)
|
rs761538996
|
0.00002
|
NM_000135.4(FANCA):c.778G>A (p.Glu260Lys)
|
rs201992220
|
0.00002
|
NM_000135.4(FANCA):c.837C>T (p.Asp279=)
|
rs752311383
|
0.00002
|
NM_000135.4(FANCA):c.1078C>T (p.Arg360Cys)
|
rs375895456
|
0.00001
|
NM_000135.4(FANCA):c.1150G>T (p.Val384Phe)
|
rs751071791
|
0.00001
|
NM_000135.4(FANCA):c.1279A>G (p.Met427Val)
|
rs368103890
|
0.00001
|
NM_000135.4(FANCA):c.1463A>G (p.Tyr488Cys)
|
rs748907151
|
0.00001
|
NM_000135.4(FANCA):c.1471-3C>G
|
rs1291307989
|
0.00001
|
NM_000135.4(FANCA):c.1622C>A (p.Thr541Asn)
|
rs775853544
|
0.00001
|
NM_000135.4(FANCA):c.1652T>C (p.Val551Ala)
|
rs1331541085
|
0.00001
|
NM_000135.4(FANCA):c.169C>T (p.Leu57=)
|
rs368828271
|
0.00001
|
NM_000135.4(FANCA):c.1716-10T>G
|
rs1270971513
|
0.00001
|
NM_000135.4(FANCA):c.1725G>A (p.Arg575=)
|
rs551108542
|
0.00001
|
NM_000135.4(FANCA):c.1734_1739del (p.Tyr578_Val580delinsTer)
|
rs757504102
|
0.00001
|
NM_000135.4(FANCA):c.1776+1G>A
|
rs756140957
|
0.00001
|
NM_000135.4(FANCA):c.1798C>T (p.Arg600Cys)
|
rs765036744
|
0.00001
|
NM_000135.4(FANCA):c.1803G>A (p.Val601=)
|
rs757053400
|
0.00001
|
NM_000135.4(FANCA):c.1835A>G (p.Lys612Arg)
|
rs777736014
|
0.00001
|
NM_000135.4(FANCA):c.1872C>A (p.Ala624=)
|
rs571449307
|
0.00001
|
NM_000135.4(FANCA):c.2126C>T (p.Pro709Leu)
|
rs148203537
|
0.00001
|
NM_000135.4(FANCA):c.2141G>A (p.Arg714Gln)
|
rs1054636249
|
0.00001
|
NM_000135.4(FANCA):c.2223-2A>G
|
rs1255001518
|
0.00001
|
NM_000135.4(FANCA):c.2394C>T (p.Leu798=)
|
rs765883419
|
0.00001
|
NM_000135.4(FANCA):c.2417C>T (p.Pro806Leu)
|
rs1352100383
|
0.00001
|
NM_000135.4(FANCA):c.2448G>A (p.Ala816=)
|
rs752705496
|
0.00001
|
NM_000135.4(FANCA):c.2504+10T>G
|
rs770043372
|
0.00001
|
NM_000135.4(FANCA):c.2534T>C (p.Leu845Pro)
|
rs1173704265
|
0.00001
|
NM_000135.4(FANCA):c.260C>G (p.Ala87Gly)
|
rs758619078
|
0.00001
|
NM_000135.4(FANCA):c.2738A>C (p.His913Pro)
|
rs1302083447
|
0.00001
|
NM_000135.4(FANCA):c.2786del (p.Tyr929fs)
|
rs779480428
|
0.00001
|
NM_000135.4(FANCA):c.283+9T>C
|
rs779593295
|
0.00001
|
NM_000135.4(FANCA):c.2840C>G (p.Ser947Ter)
|
rs745568821
|
0.00001
|
NM_000135.4(FANCA):c.2853-2A>C
|
rs947311062
|
0.00001
|
NM_000135.4(FANCA):c.2922C>T (p.Asp974=)
|
rs756241886
|
0.00001
|
NM_000135.4(FANCA):c.2939C>T (p.Ala980Val)
|
rs773070418
|
0.00001
|
NM_000135.4(FANCA):c.2959G>A (p.Ala987Thr)
|
rs752735858
|
0.00001
|
NM_000135.4(FANCA):c.3087G>A (p.Glu1029=)
|
rs35402142
|
0.00001
|
NM_000135.4(FANCA):c.3193G>A (p.Val1065Met)
|
rs140124051
|
0.00001
|
NM_000135.4(FANCA):c.3238C>T (p.Arg1080Trp)
|
rs760392231
|
0.00001
|
NM_000135.4(FANCA):c.3250C>T (p.Arg1084Cys)
|
rs764206631
|
0.00001
|
NM_000135.4(FANCA):c.338C>T (p.Ser113Leu)
|
rs149903404
|
0.00001
|
NM_000135.4(FANCA):c.3450G>A (p.Leu1150=)
|
rs1266179547
|
0.00001
|
NM_000135.4(FANCA):c.3525G>A (p.Pro1175=)
|
rs765106818
|
0.00001
|
NM_000135.4(FANCA):c.3538G>A (p.Val1180Met)
|
rs372706571
|
0.00001
|
NM_000135.4(FANCA):c.3561A>G (p.Arg1187=)
|
rs781679210
|
0.00001
|
NM_000135.4(FANCA):c.3626+4C>T
|
rs772166806
|
0.00001
|
NM_000135.4(FANCA):c.3629T>C (p.Phe1210Ser)
|
rs1250230818
|
0.00001
|
NM_000135.4(FANCA):c.3733C>A (p.Gln1245Lys)
|
rs745665658
|
0.00001
|
NM_000135.4(FANCA):c.3754G>A (p.Glu1252Lys)
|
rs766875357
|
0.00001
|
NM_000135.4(FANCA):c.475A>G (p.Ser159Gly)
|
rs770716257
|
0.00001
|
NM_000135.4(FANCA):c.483C>T (p.Phe161=)
|
rs769389376
|
0.00001
|
NM_000135.4(FANCA):c.486C>T (p.Ser162=)
|
rs2040845636
|
0.00001
|
NM_000135.4(FANCA):c.487C>T (p.Arg163Cys)
|
rs747651383
|
0.00001
|
NM_000135.4(FANCA):c.488G>A (p.Arg163His)
|
rs375648811
|
0.00001
|
NM_000135.4(FANCA):c.549G>T (p.Trp183Cys)
|
rs758528624
|
0.00001
|
NM_000135.4(FANCA):c.571G>T (p.Val191Leu)
|
rs1429483489
|
0.00001
|
NM_000135.4(FANCA):c.596+5C>T
|
rs758345423
|
0.00001
|
NM_000135.4(FANCA):c.596G>C (p.Ser199Thr)
|
rs764157478
|
0.00001
|
NM_000135.4(FANCA):c.687C>T (p.Asp229=)
|
rs1598177104
|
0.00001
|
NM_000135.4(FANCA):c.709+5G>A
|
rs759877008
|
0.00001
|
NM_000135.4(FANCA):c.811C>T (p.Gln271Ter)
|
rs372163487
|
0.00001
|
NM_000135.4(FANCA):c.839C>T (p.Ala280Val)
|
rs767092317
|
0.00001
|
NM_000135.4(FANCA):c.856C>T (p.Gln286Ter)
|
rs1291524243
|
0.00001
|
NM_000135.4(FANCA):c.882C>G (p.Ile294Met)
|
rs754520622
|
0.00001
|
NM_000135.4(FANCA):c.917C>T (p.Thr306Met)
|
rs370852532
|
0.00001
|
NM_000135.4(FANCA):c.969C>G (p.Thr323=)
|
rs747408661
|
0.00001
|
GRCh37/hg19 16q24.3(chr16:89815067-89883023)x1
|
|
|
GRCh37/hg19 16q24.3(chr16:89821155-89854723)x3
|
|
|
GRCh37/hg19 16q24.3(chr16:89828385-89858029)x1
|
|
|
GRCh37/hg19 16q24.3(chr16:89847604-89862444)x0
|
|
|
GRCh37/hg19 16q24.3(chr16:89869667-89874775)x1
|
|
|
NM_000135.3:c.-43_1900dup
|
|
|
NM_000135.3:c.-43_283dup
|
|
|
NM_000135.4(FANCA):c.1006+182C>G
|
rs8051231
|
|
NM_000135.4(FANCA):c.1006+6C>T
|
|
|
NM_000135.4(FANCA):c.1007-104G>A
|
rs75682340
|
|
NM_000135.4(FANCA):c.1007-119C>A
|
rs186677967
|
|
NM_000135.4(FANCA):c.1007-3C>A
|
|
|
NM_000135.4(FANCA):c.1007-61del
|
rs35617323
|
|
NM_000135.4(FANCA):c.1034_1035del (p.Glu345fs)
|
rs769580546
|
|
NM_000135.4(FANCA):c.1048_1049delinsGT (p.Arg350Val)
|
rs2143534546
|
|
NM_000135.4(FANCA):c.1083+184G>A
|
rs7196411
|
|
NM_000135.4(FANCA):c.1084-54C>G
|
rs147784669
|
|
NM_000135.4(FANCA):c.1113G>C (p.Leu371Phe)
|
|
|
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs)
|
rs397507552
|
|
NM_000135.4(FANCA):c.1194del (p.Cys399fs)
|
rs2040090995
|
|
NM_000135.4(FANCA):c.1267C>T (p.Gln423Ter)
|
rs774026652
|
|
NM_000135.4(FANCA):c.1270C>G (p.Leu424Val)
|
|
|
NM_000135.4(FANCA):c.1290G>A (p.Ala430=)
|
rs1800332
|
|
NM_000135.4(FANCA):c.1294del (p.Leu432fs)
|
rs1211579979
|
|
NM_000135.4(FANCA):c.1336C>G (p.Leu446Val)
|
|
|
NM_000135.4(FANCA):c.1348G>C (p.Asp450His)
|
|
|
NM_000135.4(FANCA):c.1351T>G (p.Trp451Gly)
|
rs2040072996
|
|
NM_000135.4(FANCA):c.1359+111T>C
|
rs8049660
|
|
NM_000135.4(FANCA):c.1389T>C (p.His463=)
|
rs756913331
|
|
NM_000135.4(FANCA):c.139G>A (p.Ala47Thr)
|
rs1190475225
|
|
NM_000135.4(FANCA):c.1410G>A (p.Leu470=)
|
|
|
NM_000135.4(FANCA):c.141T>C (p.Ala47=)
|
|
|
NM_000135.4(FANCA):c.1421T>C (p.Phe474Ser)
|
rs1057524800
|
|
NM_000135.4(FANCA):c.1444C>T (p.Pro482Ser)
|
|
|
NM_000135.4(FANCA):c.1458C>T (p.Pro486=)
|
|
|
NM_000135.4(FANCA):c.145C>G (p.Arg49Gly)
|
rs929925295
|
|
NM_000135.4(FANCA):c.1470+122TTCCCC[2]
|
rs146134541
|
|
NM_000135.4(FANCA):c.1470+229G>A
|
rs16966142
|
|
NM_000135.4(FANCA):c.1471-1G>T
|
rs2039777078
|
|
NM_000135.4(FANCA):c.1471-225C>T
|
rs12928089
|
|
NM_000135.4(FANCA):c.1471-230G>A
|
rs12929129
|
|
NM_000135.4(FANCA):c.1489C>T (p.Pro497Ser)
|
rs1057521855
|
|
NM_000135.4(FANCA):c.1511G>A (p.Arg504His)
|
rs778045457
|
|
NM_000135.4(FANCA):c.1561C>T (p.Leu521Phe)
|
|
|
NM_000135.4(FANCA):c.1566+2C>T
|
rs1316950815
|
|
NM_000135.4(FANCA):c.1566+3A>G
|
|
|
NM_000135.4(FANCA):c.1567-1G>T
|
rs1464032361
|
|
NM_000135.4(FANCA):c.1609G>T (p.Ala537Ser)
|
rs2143458979
|
|
NM_000135.4(FANCA):c.1615G>A (p.Asp539Asn)
|
rs2039767633
|
|
NM_000135.4(FANCA):c.1615del (p.Asp539fs)
|
rs778507965
|
|
NM_000135.4(FANCA):c.1626+163T>C
|
rs17232735
|
|
NM_000135.4(FANCA):c.1639G>C (p.Ala547Pro)
|
rs2039644384
|
|
NM_000135.4(FANCA):c.1663A>C (p.Ile555Leu)
|
rs1335514576
|
|
NM_000135.4(FANCA):c.168_173del (p.Leu57_Asn58del)
|
rs1060501881
|
|
NM_000135.4(FANCA):c.1715+196C>T
|
rs17232756
|
|
NM_000135.4(FANCA):c.1716-155G>A
|
rs2302161
|
|
NM_000135.4(FANCA):c.1716-2A>C
|
rs2143424712
|
|
NM_000135.4(FANCA):c.1749C>G (p.Phe583Leu)
|
rs2039611242
|
|
NM_000135.4(FANCA):c.1771C>T (p.Arg591Ter)
|
rs753980264
|
|
NM_000135.4(FANCA):c.1776+7A>G
|
rs1555552070
|
|
NM_000135.4(FANCA):c.1777-3C>G
|
|
|
NM_000135.4(FANCA):c.1777-41_1777-38del
|
rs56163653
|
|
NM_000135.4(FANCA):c.1817C>G (p.Ser606Cys)
|
rs2143422330
|
|
NM_000135.4(FANCA):c.1826+144_1826+146dup
|
rs397693835
|
|
NM_000135.4(FANCA):c.1826+144_1826+148dup
|
rs397693835
|
|
NM_000135.4(FANCA):c.1826+144dup
|
rs397693835
|
|
NM_000135.4(FANCA):c.1826+173del
|
rs397693835
|
|
NM_000135.4(FANCA):c.1826+30_1826+31insTG
|
rs36204974
|
|
NM_000135.4(FANCA):c.1827-2A>G
|
rs2143393518
|
|
NM_000135.4(FANCA):c.183G>A (p.Leu61=)
|
rs1447656431
|
|
NM_000135.4(FANCA):c.189+183C>G
|
rs17232098
|
|
NM_000135.4(FANCA):c.189+1G>A
|
rs891323617
|
|
NM_000135.4(FANCA):c.190-287G>A
|
|
|
NM_000135.4(FANCA):c.190-55G>T
|
rs1800284
|
|
NM_000135.4(FANCA):c.1900+151C>A
|
rs138562629
|
|
NM_000135.4(FANCA):c.1901-1G>A
|
rs1485075318
|
|
NM_000135.4(FANCA):c.1901-205C>T
|
rs4785721
|
|
NM_000135.4(FANCA):c.1901-253C>G
|
|
|
NM_000135.4(FANCA):c.1915G>C (p.Val639Leu)
|
|
|
NM_000135.4(FANCA):c.1954C>T (p.Gln652Ter)
|
|
|
NM_000135.4(FANCA):c.1999C>G (p.Pro667Ala)
|
rs147300317
|
|
NM_000135.4(FANCA):c.2003G>T (p.Ser668Ile)
|
|
|
NM_000135.4(FANCA):c.2014+1G>C
|
rs1598116164
|
|
NM_000135.4(FANCA):c.2032G>T (p.Ala678Ser)
|
|
|
NM_000135.4(FANCA):c.2062C>T (p.Leu688=)
|
|
|
NM_000135.4(FANCA):c.2098T>C (p.Ser700Pro)
|
rs767631694
|
|
NM_000135.4(FANCA):c.2134G>A (p.Glu712Lys)
|
rs774565293
|
|
NM_000135.4(FANCA):c.2151+7G>A
|
rs2039330078
|
|
NM_000135.4(FANCA):c.2172G>A (p.Thr724=)
|
rs768851944
|
|
NM_000135.4(FANCA):c.2201C>T (p.Ser734Phe)
|
rs753460067
|
|
NM_000135.4(FANCA):c.2208C>T (p.Val736=)
|
rs755638734
|
|
NM_000135.4(FANCA):c.2222+4A>G
|
|
|
NM_000135.4(FANCA):c.2223-114C>T
|
rs886952
|
|
NM_000135.4(FANCA):c.2223-133T>G
|
|
|
NM_000135.4(FANCA):c.2247C>G (p.Phe749Leu)
|
rs772842754
|
|
NM_000135.4(FANCA):c.2248G>A (p.Val750Met)
|
rs747723074
|
|
NM_000135.4(FANCA):c.2260T>G (p.Cys754Gly)
|
|
|
NM_000135.4(FANCA):c.2267G>C (p.Arg756Pro)
|
rs137913973
|
|
NM_000135.4(FANCA):c.2316+13T>C
|
rs2143335460
|
|
NM_000135.4(FANCA):c.2321C>A (p.Pro774Gln)
|
|
|
NM_000135.4(FANCA):c.2325C>G (p.Ser775Arg)
|
rs545765795
|
|
NM_000135.4(FANCA):c.238del (p.Cys80fs)
|
rs864622187
|
|
NM_000135.4(FANCA):c.2410G>T (p.Gly804Cys)
|
rs2039264268
|
|
NM_000135.4(FANCA):c.2424T>C (p.Pro808=)
|
|
|
NM_000135.4(FANCA):c.2432G>C (p.Gly811Ala)
|
|
|
NM_000135.4(FANCA):c.2434C>T (p.Leu812Phe)
|
|
|
NM_000135.4(FANCA):c.2461del (p.Leu821fs)
|
rs2143331971
|
|
NM_000135.4(FANCA):c.2477C>G (p.Thr826Arg)
|
rs765888048
|
|
NM_000135.4(FANCA):c.2477C>T (p.Thr826Met)
|
rs765888048
|
|
NM_000135.4(FANCA):c.2504+82C>G
|
|
|
NM_000135.4(FANCA):c.2505-236C>A
|
rs6500443
|
|
NM_000135.4(FANCA):c.2555C>A (p.Ser852Ter)
|
rs761469030
|
|
NM_000135.4(FANCA):c.2602-156C>T
|
rs12600047
|
|
NM_000135.4(FANCA):c.2722C>T (p.Leu908Phe)
|
|
|
NM_000135.4(FANCA):c.2749C>T (p.Arg917Ter)
|
rs1060501880
|
|
NM_000135.4(FANCA):c.2778+7_2778+36del
|
rs1253945933
|
|
NM_000135.4(FANCA):c.2779-239G>C
|
rs6500441
|
|
NM_000135.4(FANCA):c.2779-54G>A
|
rs17226841
|
|
NM_000135.4(FANCA):c.2779-55C>G
|
rs17226834
|
|
NM_000135.4(FANCA):c.2785del (p.Tyr929fs)
|
|
|
NM_000135.4(FANCA):c.2797T>C (p.Leu933=)
|
rs961319091
|
|
NM_000135.4(FANCA):c.2807A>G (p.Glu936Gly)
|
rs766643461
|
|
NM_000135.4(FANCA):c.2808G>C (p.Glu936Asp)
|
rs2038968727
|
|
NM_000135.4(FANCA):c.2812_2830dup (p.Asp944delinsGlyAsnSerThrTer)
|
rs1283284704
|
|
NM_000135.4(FANCA):c.283+106G>C
|
rs17232127
|
|
NM_000135.4(FANCA):c.284-151C>T
|
rs12935638
|
|
NM_000135.4(FANCA):c.2853-268C>T
|
|
|
NM_000135.4(FANCA):c.2904G>A (p.Ser968=)
|
rs568354015
|
|
NM_000135.4(FANCA):c.2910del (p.Gly972fs)
|
rs1278836130
|
|
NM_000135.4(FANCA):c.2915G>C (p.Gly972Ala)
|
rs1555542929
|
|
NM_000135.4(FANCA):c.295C>T (p.Gln99Ter)
|
rs1057516430
|
|
NM_000135.4(FANCA):c.2965A>G (p.Met989Val)
|
|
|
NM_000135.4(FANCA):c.2982-340A>T
|
rs17227022
|
|
NM_000135.4(FANCA):c.2982-358A>G
|
|
|
NM_000135.4(FANCA):c.3007A>T (p.Asn1003Tyr)
|
rs1168739564
|
|
NM_000135.4(FANCA):c.3056C>G (p.Ser1019Cys)
|
rs762111755
|
|
NM_000135.4(FANCA):c.3066+206C>G
|
rs3743861
|
|
NM_000135.4(FANCA):c.3067-259G>T
|
rs62054609
|
|
NM_000135.4(FANCA):c.3067-97T>C
|
rs17233455
|
|
NM_000135.4(FANCA):c.3075A>T (p.Val1025=)
|
rs780769017
|
|
NM_000135.4(FANCA):c.309A>G (p.Ser103=)
|
rs1284727333
|
|
NM_000135.4(FANCA):c.3112C>T (p.Leu1038Phe)
|
|
|
NM_000135.4(FANCA):c.3144C>T (p.Leu1048=)
|
rs1302242291
|
|
NM_000135.4(FANCA):c.3146_3147del (p.Leu1048_Phe1049insTer)
|
rs2143139166
|
|
NM_000135.4(FANCA):c.3157C>G (p.Arg1053Gly)
|
|
|
NM_000135.4(FANCA):c.3163C>G (p.Arg1055Gly)
|
rs753063086
|
|
NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp)
|
rs753063086
|
|
NM_000135.4(FANCA):c.3175C>G (p.Leu1059Val)
|
rs964650941
|
|
NM_000135.4(FANCA):c.3239+339A>G
|
rs8044026
|
|
NM_000135.4(FANCA):c.3240-225_3240-223del
|
rs17233490
|
|
NM_000135.4(FANCA):c.3256C>T (p.Pro1086Ser)
|
|
|
NM_000135.4(FANCA):c.3288G>C (p.Gln1096His)
|
rs1433848980
|
|
NM_000135.4(FANCA):c.3344A>G (p.Glu1115Gly)
|
rs1057520051
|
|
NM_000135.4(FANCA):c.3348+1G>A
|
rs751266148
|
|
NM_000135.4(FANCA):c.3348+249A>C
|
rs2011877
|
|
NM_000135.4(FANCA):c.3348+249A>T
|
rs2011877
|
|
NM_000135.4(FANCA):c.3416T>A (p.Leu1139Gln)
|
rs2143106961
|
|
NM_000135.4(FANCA):c.3431G>A (p.Arg1144Gln)
|
|
|
NM_000135.4(FANCA):c.3504C>G (p.Thr1168=)
|
rs371464360
|
|
NM_000135.4(FANCA):c.3513+139_3513+140del
|
rs17233602
|
|
NM_000135.4(FANCA):c.3513+230G>T
|
rs12102297
|
|
NM_000135.4(FANCA):c.3514-150G>A
|
rs35611562
|
|
NM_000135.4(FANCA):c.3514-340G>C
|
rs62054602
|
|
NM_000135.4(FANCA):c.3521G>A (p.Trp1174Ter)
|
rs1598067532
|
|
NM_000135.4(FANCA):c.3544C>T (p.Leu1182Phe)
|
rs2143088090
|
|
NM_000135.4(FANCA):c.3558dup (p.Arg1187fs)
|
rs747851434
|
|
NM_000135.4(FANCA):c.3586G>T (p.Glu1196Ter)
|
rs1390620949
|
|
NM_000135.4(FANCA):c.3613C>T (p.Gln1205Ter)
|
rs1313006784
|
|
NM_000135.4(FANCA):c.3626+171A>G
|
rs9923733
|
|
NM_000135.4(FANCA):c.3626+274_3626+275dup
|
rs34088132
|
|
NM_000135.4(FANCA):c.3626+274dup
|
rs34088132
|
|
NM_000135.4(FANCA):c.3626+283dup
|
rs56850260
|
|
NM_000135.4(FANCA):c.3652C>A (p.Pro1218Thr)
|
rs1555535564
|
|
NM_000135.4(FANCA):c.3653_3654inv (p.Pro1218Leu)
|
|
|
NM_000135.4(FANCA):c.3655G>A (p.Ala1219Thr)
|
rs1064796909
|
|
NM_000135.4(FANCA):c.367C>T (p.Gln123Ter)
|
|
|
NM_000135.4(FANCA):c.3683C>A (p.Ala1228Asp)
|
|
|
NM_000135.4(FANCA):c.3718G>C (p.Glu1240Gln)
|
rs150719428
|
|
NM_000135.4(FANCA):c.3763G>T (p.Glu1255Ter)
|
rs2062169243
|
|
NM_000135.4(FANCA):c.3765+269A>G
|
rs34027607
|
|
NM_000135.4(FANCA):c.377C>G (p.Thr126Arg)
|
rs139160837
|
|
NM_000135.4(FANCA):c.377C>T (p.Thr126Met)
|
rs139160837
|
|
NM_000135.4(FANCA):c.385G>A (p.Ala129Thr)
|
rs374945563
|
|
NM_000135.4(FANCA):c.389A>T (p.Glu130Val)
|
|
|
NM_000135.4(FANCA):c.426+6A>G
|
|
|
NM_000135.4(FANCA):c.443del (p.Leu148fs)
|
|
|
NM_000135.4(FANCA):c.454G>C (p.Ala152Pro)
|
rs2143677716
|
|
NM_000135.4(FANCA):c.459G>A (p.Gln153=)
|
rs2040846276
|
|
NM_000135.4(FANCA):c.505G>C (p.Glu169Gln)
|
|
|
NM_000135.4(FANCA):c.522+6T>C
|
|
|
NM_000135.4(FANCA):c.522+7T>C
|
|
|
NM_000135.4(FANCA):c.523-19GTTTT[2]
|
rs755643283
|
|
NM_000135.4(FANCA):c.523-1G>T
|
rs1477653630
|
|
NM_000135.4(FANCA):c.523-258C>A
|
rs7185013
|
|
NM_000135.4(FANCA):c.574A>C (p.Ser192Arg)
|
|
|
NM_000135.4(FANCA):c.596+205G>T
|
rs58953926
|
|
NM_000135.4(FANCA):c.596+205_596+207del
|
rs376278387
|
|
NM_000135.4(FANCA):c.596+224C>T
|
rs200753547
|
|
NM_000135.4(FANCA):c.597-80del
|
rs34937702
|
|
NM_000135.4(FANCA):c.617T>C (p.Val206Ala)
|
|
|
NM_000135.4(FANCA):c.623C>G (p.Ser208Trp)
|
rs144420697
|
|
NM_000135.4(FANCA):c.643T>A (p.Cys215Ser)
|
|
|
NM_000135.4(FANCA):c.691G>T (p.Ala231Ser)
|
rs746814384
|
|
NM_000135.4(FANCA):c.703C>T (p.Leu235Phe)
|
rs1316244239
|
|
NM_000135.4(FANCA):c.709+1G>C
|
rs753211631
|
|
NM_000135.4(FANCA):c.709+2T>C
|
rs1555571116
|
|
NM_000135.4(FANCA):c.710-142_710-141dup
|
rs17232344
|
|
NM_000135.4(FANCA):c.710-298dup
|
rs34752953
|
|
NM_000135.4(FANCA):c.744dup (p.Lys249fs)
|
rs1567645786
|
|
NM_000135.4(FANCA):c.754_755delinsAG (p.Asp252Ser)
|
rs587778324
|
|
NM_000135.4(FANCA):c.761GAA[1] (p.Arg255del)
|
rs555210441
|
|
NM_000135.4(FANCA):c.768T>A (p.Thr256=)
|
|
|
NM_000135.4(FANCA):c.79+223C>T
|
|
|
NM_000135.4(FANCA):c.792+103C>T
|
rs35506335
|
|
NM_000135.4(FANCA):c.793-1G>A
|
rs1567642367
|
|
NM_000135.4(FANCA):c.793-249C>A
|
rs17232393
|
|
NM_000135.4(FANCA):c.793-281C>T
|
rs33938852
|
|
NM_000135.4(FANCA):c.819G>T (p.Met273Ile)
|
|
|
NM_000135.4(FANCA):c.85A>G (p.Arg29Gly)
|
|
|
NM_000135.4(FANCA):c.863_866dup (p.Ser290fs)
|
rs1348367722
|
|
NM_000135.4(FANCA):c.883G>A (p.Val295Met)
|
|
|
NM_000135.4(FANCA):c.893+5G>C
|
rs2040352785
|
|
NM_000135.4(FANCA):c.911G>A (p.Gly304Glu)
|
rs745451374
|
|
NM_000135.4(FANCA):c.914A>C (p.His305Pro)
|
|
|
NM_000135.4(FANCA):c.921T>G (p.Leu307=)
|
|
|
NM_000135.4(FANCA):c.927T>A (p.Ser309Arg)
|
|
|
NM_000135.4(FANCA):c.97del (p.Glu33fs)
|
rs786204238
|
|
NM_000135.4(FANCA):c.987_990del (p.His330fs)
|
rs772359099
|
|