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.710-12A>G
|
rs1800286
|
0.71452
|
NM_000135.4(FANCA):c.1226-80T>C
|
rs6500450
|
0.53395
|
NM_000135.4(FANCA):c.1084-49G>C
|
rs1800287
|
0.53385
|
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.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.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.1826+99T>A
|
rs7187436
|
0.50149
|
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.596+143T>G
|
rs11076627
|
0.45367
|
NM_000135.4(FANCA):c.1226-20A>G
|
rs1800330
|
0.41702
|
NM_000135.4(FANCA):c.3240-42G>A
|
rs1800345
|
0.40844
|
NM_000135.4(FANCA):c.2151+8T>C
|
rs1800340
|
0.40536
|
NM_000135.4(FANCA):c.1084-29A>G
|
rs6500452
|
0.39672
|
NM_000135.4(FANCA):c.3654A>G (p.Pro1218=)
|
rs1800358
|
0.12784
|
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.2602-36G>T
|
rs2159116
|
0.11784
|
NM_000135.4(FANCA):c.1143G>T (p.Thr381=)
|
rs1800331
|
0.06866
|
NM_000135.4(FANCA):c.894-8A>G
|
rs11648881
|
0.06110
|
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.2779-7T>C
|
rs17233253
|
0.05872
|
NM_000135.4(FANCA):c.2901C>T (p.Ser967=)
|
rs17226980
|
0.05869
|
NM_000135.4(FANCA):c.3067-4T>C
|
rs17227064
|
0.05860
|
NM_000135.4(FANCA):c.3067-23G>A
|
rs17227057
|
0.05859
|
NM_000135.4(FANCA):c.3765+37G>A
|
rs34420680
|
0.05858
|
NM_000135.4(FANCA):c.2602-46T>A
|
rs11076620
|
0.05847
|
NM_000135.4(FANCA):c.1235C>T (p.Ala412Val)
|
rs11646374
|
0.05837
|
NM_000135.4(FANCA):c.3263C>T (p.Ser1088Phe)
|
rs17233497
|
0.05303
|
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.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.2151G>T (p.Met717Ile)
|
rs1131660
|
0.02234
|
NM_000135.4(FANCA):c.755A>G (p.Asp252Gly)
|
rs17225943
|
0.01851
|
NM_000135.4(FANCA):c.1627-32T>C
|
rs17226337
|
0.01179
|
NM_000135.4(FANCA):c.601C>T (p.Pro201Ser)
|
rs144917960
|
0.00895
|
NM_000135.4(FANCA):c.1928C>G (p.Pro643Arg)
|
rs34592408
|
0.00601
|
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.903G>T (p.Val301=)
|
rs56062548
|
0.00432
|
NM_000135.4(FANCA):c.3348+29C>T
|
rs1800348
|
0.00360
|
NM_000135.4(FANCA):c.2216C>T (p.Pro739Leu)
|
rs45441106
|
0.00341
|
NM_000135.4(FANCA):c.932T>C (p.Ile311Thr)
|
rs75501942
|
0.00334
|
NM_000135.4(FANCA):c.623C>T (p.Ser208Leu)
|
rs144420697
|
0.00325
|
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.3591G>A (p.Leu1197=)
|
rs55773634
|
0.00282
|
NM_000135.4(FANCA):c.2021C>T (p.Ser674Leu)
|
rs17232973
|
0.00257
|
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.3198T>C (p.Ala1066=)
|
rs17227071
|
0.00172
|
NM_000135.4(FANCA):c.3584G>A (p.Arg1195Gln)
|
rs138013482
|
0.00166
|
NM_000135.4(FANCA):c.1360-10C>G
|
rs150836356
|
0.00165
|
NM_000135.4(FANCA):c.1471-12A>G
|
rs9282684
|
0.00163
|
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.115A>C (p.Arg39=)
|
rs17232091
|
0.00116
|
NM_000135.4(FANCA):c.80-13C>T
|
rs189841793
|
0.00110
|
NM_000135.4(FANCA):c.3524C>T (p.Pro1175Leu)
|
rs147017625
|
0.00083
|
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.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.543G>A (p.Ala181=)
|
rs143314367
|
0.00035
|
NM_000135.4(FANCA):c.1225+12C>T
|
rs200672872
|
0.00030
|
NM_000135.4(FANCA):c.1716-20T>C
|
rs367726674
|
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.801T>C (p.Val267=)
|
rs55660936
|
0.00028
|
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.2589C>A (p.Gly863=)
|
rs72807571
|
0.00024
|
NM_000135.4(FANCA):c.1871C>G (p.Ala624Gly)
|
rs146491000
|
0.00022
|
NM_000135.4(FANCA):c.3723C>T (p.Asn1241=)
|
rs202107465
|
0.00021
|
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.116G>A (p.Arg39Lys)
|
rs151089298
|
0.00016
|
NM_000135.4(FANCA):c.2152-20T>A
|
rs200403206
|
0.00016
|
NM_000135.4(FANCA):c.2504+6C>G
|
rs749556479
|
0.00016
|
NM_000135.4(FANCA):c.3348+7G>T
|
rs185527578
|
0.00016
|
NM_000135.4(FANCA):c.688G>A (p.Val230Ile)
|
rs144560850
|
0.00016
|
NM_000135.4(FANCA):c.1413C>T (p.Val471=)
|
rs201561753
|
0.00015
|
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.2852G>A (p.Arg951Gln)
|
rs755922289
|
0.00013
|
NM_000135.4(FANCA):c.3637C>G (p.Pro1213Ala)
|
rs200713354
|
0.00013
|
NM_000135.4(FANCA):c.1776+11G>A
|
rs377308050
|
0.00012
|
NM_000135.4(FANCA):c.2266C>T (p.Arg756Cys)
|
rs556748657
|
0.00012
|
NM_000135.4(FANCA):c.1471-20G>A
|
rs374579239
|
0.00011
|
NM_000135.4(FANCA):c.1549C>T (p.Arg517Trp)
|
rs587778309
|
0.00011
|
NM_000135.4(FANCA):c.1683G>A (p.Thr561=)
|
rs143451067
|
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.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.1755C>G (p.Pro585=)
|
rs144704750
|
0.00010
|
NM_000135.4(FANCA):c.2089G>A (p.Val697Ile)
|
rs376888740
|
0.00010
|
NM_000135.4(FANCA):c.342C>T (p.Ala114=)
|
rs777989691
|
0.00010
|
NM_000135.4(FANCA):c.634A>C (p.Arg212=)
|
rs754839730
|
0.00010
|
NM_000135.4(FANCA):c.1371G>T (p.Gly457=)
|
rs369988875
|
0.00009
|
NM_000135.4(FANCA):c.1776+13C>T
|
rs371272310
|
0.00009
|
NM_000135.4(FANCA):c.1900+7T>A
|
rs377401016
|
0.00009
|
NM_000135.4(FANCA):c.2276C>T (p.Pro759Leu)
|
rs373147908
|
0.00009
|
NM_000135.4(FANCA):c.2309G>A (p.Arg770His)
|
rs145552439
|
0.00009
|
NM_000135.4(FANCA):c.3114C>T (p.Leu1038=)
|
rs55758861
|
0.00009
|
NM_000135.4(FANCA):c.3138C>T (p.His1046=)
|
rs150884376
|
0.00009
|
NM_000135.4(FANCA):c.2072A>G (p.Asn691Ser)
|
rs367880372
|
0.00008
|
NM_000135.4(FANCA):c.2856G>C (p.Gln952His)
|
rs200093209
|
0.00008
|
NM_000135.4(FANCA):c.3069G>T (p.Glu1023Asp)
|
rs373986283
|
0.00008
|
NM_000135.4(FANCA):c.3644C>A (p.Ala1215Asp)
|
rs199601218
|
0.00008
|
NM_000135.4(FANCA):c.679C>G (p.His227Asp)
|
rs142580507
|
0.00008
|
NM_000135.4(FANCA):c.869C>A (p.Ser290Tyr)
|
rs185984960
|
0.00008
|
NM_000135.4(FANCA):c.1225+14C>T
|
rs376558078
|
0.00007
|
NM_000135.4(FANCA):c.1573A>G (p.Ile525Val)
|
rs755925068
|
0.00007
|
NM_000135.4(FANCA):c.1634G>T (p.Ser545Ile)
|
rs200922390
|
0.00007
|
NM_000135.4(FANCA):c.2222+7G>A
|
rs374312736
|
0.00007
|
NM_000135.4(FANCA):c.2981+4dup
|
rs75004096
|
0.00007
|
NM_000135.4(FANCA):c.3008A>G (p.Asn1003Ser)
|
rs757175768
|
0.00007
|
NM_000135.4(FANCA):c.3196G>C (p.Ala1066Pro)
|
rs556235245
|
0.00007
|
NM_000135.4(FANCA):c.3420C>T (p.Asn1140=)
|
rs369765552
|
0.00007
|
NM_000135.4(FANCA):c.685G>A (p.Asp229Asn)
|
rs148419748
|
0.00007
|
NM_000135.4(FANCA):c.737G>A (p.Gly246Glu)
|
rs555519520
|
0.00007
|
NM_000135.4(FANCA):c.1018G>A (p.Val340Ile)
|
rs774948790
|
0.00006
|
NM_000135.4(FANCA):c.1226-4C>G
|
rs934483477
|
0.00006
|
NM_000135.4(FANCA):c.1734C>T (p.Tyr578=)
|
rs762647468
|
0.00006
|
NM_000135.4(FANCA):c.1756G>A (p.Ala586Thr)
|
rs201212806
|
0.00006
|
NM_000135.4(FANCA):c.1806G>A (p.Ala602=)
|
rs550064744
|
0.00006
|
NM_000135.4(FANCA):c.1901-10C>T
|
rs766654290
|
0.00006
|
NM_000135.4(FANCA):c.2292G>A (p.Arg764=)
|
rs56267906
|
0.00006
|
NM_000135.4(FANCA):c.2778+12T>C
|
rs775047268
|
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.3349-3C>T
|
rs373861415
|
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.862G>T (p.Glu288Ter)
|
rs148100796
|
0.00006
|
NM_000135.4(FANCA):c.1049G>A (p.Arg350Gln)
|
rs199967286
|
0.00005
|
NM_000135.4(FANCA):c.1827-1G>A
|
rs555449842
|
0.00005
|
NM_000135.4(FANCA):c.2015-5C>T
|
rs780349960
|
0.00005
|
NM_000135.4(FANCA):c.2080G>A (p.Asp694Asn)
|
rs201589909
|
0.00005
|
NM_000135.4(FANCA):c.2152-13T>C
|
rs752105563
|
0.00005
|
NM_000135.4(FANCA):c.2212C>T (p.Pro738Ser)
|
rs751015814
|
0.00005
|
NM_000135.4(FANCA):c.2317-8C>T
|
rs753766357
|
0.00005
|
NM_000135.4(FANCA):c.2735C>T (p.Thr912Ile)
|
rs376302719
|
0.00005
|
NM_000135.4(FANCA):c.2778+10C>T
|
rs371786839
|
0.00005
|
NM_000135.4(FANCA):c.3536C>G (p.Pro1179Arg)
|
rs141422170
|
0.00005
|
NM_000135.4(FANCA):c.527C>T (p.Ser176Phe)
|
rs35566151
|
0.00005
|
NM_000135.4(FANCA):c.953G>T (p.Arg318Met)
|
rs72552377
|
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.1510C>T (p.Arg504Cys)
|
rs200291237
|
0.00004
|
NM_000135.4(FANCA):c.1675G>A (p.Glu559Lys)
|
rs201323171
|
0.00004
|
NM_000135.4(FANCA):c.1716-3C>T
|
rs760855591
|
0.00004
|
NM_000135.4(FANCA):c.1777-15C>G
|
rs371919426
|
0.00004
|
NM_000135.4(FANCA):c.1799G>A (p.Arg600His)
|
rs775917892
|
0.00004
|
NM_000135.4(FANCA):c.189+7G>A
|
rs369985388
|
0.00004
|
NM_000135.4(FANCA):c.1899A>C (p.Glu633Asp)
|
rs768520283
|
0.00004
|
NM_000135.4(FANCA):c.1951G>A (p.Gly651Arg)
|
rs140785340
|
0.00004
|
NM_000135.4(FANCA):c.2009G>A (p.Arg670His)
|
rs537923341
|
0.00004
|
NM_000135.4(FANCA):c.2228G>A (p.Gly743Asp)
|
rs763187355
|
0.00004
|
NM_000135.4(FANCA):c.2291G>A (p.Arg764Gln)
|
rs377442601
|
0.00004
|
NM_000135.4(FANCA):c.2507T>A (p.Phe836Tyr)
|
rs142869950
|
0.00004
|
NM_000135.4(FANCA):c.2567T>C (p.Leu856Ser)
|
rs370085403
|
0.00004
|
NM_000135.4(FANCA):c.2602-16T>G
|
rs762865666
|
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.3239+7C>T
|
rs775293779
|
0.00004
|
NM_000135.4(FANCA):c.3349-1G>A
|
rs769862233
|
0.00004
|
NM_000135.4(FANCA):c.3476G>C (p.Cys1159Ser)
|
rs762837582
|
0.00004
|
NM_000135.4(FANCA):c.3665C>T (p.Pro1222Leu)
|
rs374537936
|
0.00004
|
NM_000135.4(FANCA):c.445T>G (p.Leu149Val)
|
rs372814783
|
0.00004
|
NM_000135.4(FANCA):c.661A>G (p.Met221Val)
|
rs150924963
|
0.00004
|
NM_000135.4(FANCA):c.793-9T>C
|
rs757500718
|
0.00004
|
NM_000135.4(FANCA):c.944C>G (p.Pro315Arg)
|
rs764121307
|
0.00004
|
NM_000135.4(FANCA):c.1046C>T (p.Ala349Val)
|
rs142620413
|
0.00003
|
NM_000135.4(FANCA):c.1048C>T (p.Arg350Trp)
|
rs150290184
|
0.00003
|
NM_000135.4(FANCA):c.1209G>A (p.Ala403=)
|
rs773318145
|
0.00003
|
NM_000135.4(FANCA):c.1445C>G (p.Pro482Arg)
|
rs768676657
|
0.00003
|
NM_000135.4(FANCA):c.1574T>C (p.Ile525Thr)
|
rs752323052
|
0.00003
|
NM_000135.4(FANCA):c.1738G>A (p.Val580Met)
|
rs769158149
|
0.00003
|
NM_000135.4(FANCA):c.1772G>A (p.Arg591Gln)
|
rs778093769
|
0.00003
|
NM_000135.4(FANCA):c.178C>T (p.Leu60Phe)
|
rs1060501885
|
0.00003
|
NM_000135.4(FANCA):c.1815G>A (p.Glu605=)
|
rs773613283
|
0.00003
|
NM_000135.4(FANCA):c.1964C>G (p.Ala655Gly)
|
rs1306842168
|
0.00003
|
NM_000135.4(FANCA):c.1994C>G (p.Thr665Arg)
|
rs1481598103
|
0.00003
|
NM_000135.4(FANCA):c.2171C>T (p.Thr724Met)
|
rs777032467
|
0.00003
|
NM_000135.4(FANCA):c.2944A>G (p.Thr982Ala)
|
rs587778317
|
0.00003
|
NM_000135.4(FANCA):c.2958C>T (p.Asn986=)
|
rs368953287
|
0.00003
|
NM_000135.4(FANCA):c.2964G>C (p.Leu988=)
|
rs751495133
|
0.00003
|
NM_000135.4(FANCA):c.3000C>G (p.His1000Gln)
|
rs750421982
|
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.3349-19G>T
|
rs377180908
|
0.00003
|
NM_000135.4(FANCA):c.3359G>C (p.Cys1120Ser)
|
rs370731587
|
0.00003
|
NM_000135.4(FANCA):c.344G>A (p.Gly115Glu)
|
rs748263867
|
0.00003
|
NM_000135.4(FANCA):c.3610C>T (p.Arg1204Trp)
|
rs759303096
|
0.00003
|
NM_000135.4(FANCA):c.3627-8T>G
|
rs77877981
|
0.00003
|
NM_000135.4(FANCA):c.3627-9C>T
|
rs547300201
|
0.00003
|
NM_000135.4(FANCA):c.3761A>T (p.Glu1254Val)
|
rs750773229
|
0.00003
|
NM_000135.4(FANCA):c.426+13C>T
|
rs755598667
|
0.00003
|
NM_000135.4(FANCA):c.457C>G (p.Gln153Glu)
|
rs774448881
|
0.00003
|
NM_000135.4(FANCA):c.553C>A (p.Leu185Ile)
|
rs587778323
|
0.00003
|
NM_000135.4(FANCA):c.81G>A (p.Ala27=)
|
rs150247726
|
0.00003
|
NM_000135.4(FANCA):c.1004A>C (p.Lys335Thr)
|
rs752532498
|
0.00002
|
NM_000135.4(FANCA):c.1007-3C>T
|
rs557382436
|
0.00002
|
NM_000135.4(FANCA):c.1038G>C (p.Trp346Cys)
|
rs750257902
|
0.00002
|
NM_000135.4(FANCA):c.1087T>C (p.Phe363Leu)
|
rs531100141
|
0.00002
|
NM_000135.4(FANCA):c.1114G>T (p.Val372Phe)
|
rs982286482
|
0.00002
|
NM_000135.4(FANCA):c.1219C>G (p.Leu407Val)
|
rs748005916
|
0.00002
|
NM_000135.4(FANCA):c.1226-12G>C
|
rs36011345
|
0.00002
|
NM_000135.4(FANCA):c.1236G>A (p.Ala412=)
|
rs371993688
|
0.00002
|
NM_000135.4(FANCA):c.1237C>T (p.Arg413Cys)
|
rs780135578
|
0.00002
|
NM_000135.4(FANCA):c.1303C>T (p.Arg435Cys)
|
rs148473140
|
0.00002
|
NM_000135.4(FANCA):c.1331C>T (p.Ala444Val)
|
rs144234991
|
0.00002
|
NM_000135.4(FANCA):c.1477A>G (p.Ile493Val)
|
rs762828757
|
0.00002
|
NM_000135.4(FANCA):c.154C>T (p.Arg52Ter)
|
rs773159223
|
0.00002
|
NM_000135.4(FANCA):c.1558G>C (p.Asp520His)
|
rs754123446
|
0.00002
|
NM_000135.4(FANCA):c.1566+6C>G
|
rs886939126
|
0.00002
|
NM_000135.4(FANCA):c.1567-11C>A
|
rs34353618
|
0.00002
|
NM_000135.4(FANCA):c.1676A>G (p.Glu559Gly)
|
rs753229112
|
0.00002
|
NM_000135.4(FANCA):c.1702G>A (p.Val568Ile)
|
rs778754162
|
0.00002
|
NM_000135.4(FANCA):c.1777-1G>C
|
rs755104393
|
0.00002
|
NM_000135.4(FANCA):c.1781C>A (p.Pro594His)
|
rs780295697
|
0.00002
|
NM_000135.4(FANCA):c.190-2A>T
|
rs183350210
|
0.00002
|
NM_000135.4(FANCA):c.2008C>T (p.Arg670Cys)
|
rs587778312
|
0.00002
|
NM_000135.4(FANCA):c.2094G>C (p.Glu698Asp)
|
rs201672093
|
0.00002
|
NM_000135.4(FANCA):c.2109G>C (p.Gln703His)
|
rs371458363
|
0.00002
|
NM_000135.4(FANCA):c.2123C>T (p.Thr708Met)
|
rs775960094
|
0.00002
|
NM_000135.4(FANCA):c.2151+20A>G
|
rs374555419
|
0.00002
|
NM_000135.4(FANCA):c.2222+8C>T
|
rs745775730
|
0.00002
|
NM_000135.4(FANCA):c.2395C>T (p.Pro799Ser)
|
rs762439008
|
0.00002
|
NM_000135.4(FANCA):c.2778+1G>A
|
rs140180549
|
0.00002
|
NM_000135.4(FANCA):c.2923G>A (p.Gly975Arg)
|
rs369565161
|
0.00002
|
NM_000135.4(FANCA):c.2968G>A (p.Asp990Asn)
|
rs1060501883
|
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.3316G>A (p.Glu1106Lys)
|
rs777825824
|
0.00002
|
NM_000135.4(FANCA):c.3361T>C (p.Ser1121Pro)
|
rs977982480
|
0.00002
|
NM_000135.4(FANCA):c.3429G>A (p.Leu1143=)
|
rs146062039
|
0.00002
|
NM_000135.4(FANCA):c.3482C>T (p.Thr1161Met)
|
rs142833057
|
0.00002
|
NM_000135.4(FANCA):c.3575C>T (p.Pro1192Leu)
|
rs780078373
|
0.00002
|
NM_000135.4(FANCA):c.3627-17C>T
|
rs754751562
|
0.00002
|
NM_000135.4(FANCA):c.3746T>C (p.Leu1249Pro)
|
rs753316789
|
0.00002
|
NM_000135.4(FANCA):c.386C>T (p.Ala129Val)
|
rs577625130
|
0.00002
|
NM_000135.4(FANCA):c.559G>A (p.Val187Ile)
|
rs761538996
|
0.00002
|
NM_000135.4(FANCA):c.701T>C (p.Met234Thr)
|
rs145869646
|
0.00002
|
NM_000135.4(FANCA):c.778G>A (p.Glu260Lys)
|
rs201992220
|
0.00002
|
NM_000135.4(FANCA):c.837C>T (p.Asp279=)
|
rs752311383
|
0.00002
|
NM_000135.4(FANCA):c.87G>A (p.Arg29=)
|
rs760787108
|
0.00002
|
NM_000135.4(FANCA):c.888G>A (p.Arg296=)
|
rs942855447
|
0.00002
|
NM_000135.4(FANCA):c.1007-17T>C
|
rs760059831
|
0.00001
|
NM_000135.4(FANCA):c.1007-7C>G
|
rs111271660
|
0.00001
|
NM_000135.4(FANCA):c.100A>T (p.Lys34Ter)
|
rs772858764
|
0.00001
|
NM_000135.4(FANCA):c.1027C>T (p.Gln343Ter)
|
rs755018069
|
0.00001
|
NM_000135.4(FANCA):c.109C>T (p.Pro37Ser)
|
rs780833865
|
0.00001
|
NM_000135.4(FANCA):c.1141A>G (p.Thr381Ala)
|
rs774319222
|
0.00001
|
NM_000135.4(FANCA):c.1144C>T (p.Gln382Ter)
|
rs769718381
|
0.00001
|
NM_000135.4(FANCA):c.1150G>T (p.Val384Phe)
|
rs751071791
|
0.00001
|
NM_000135.4(FANCA):c.1153C>T (p.His385Tyr)
|
rs757760966
|
0.00001
|
NM_000135.4(FANCA):c.1213C>T (p.Gln405Ter)
|
rs1280130060
|
0.00001
|
NM_000135.4(FANCA):c.1226-2A>G
|
rs773906241
|
0.00001
|
NM_000135.4(FANCA):c.1244T>C (p.Met415Thr)
|
rs912838333
|
0.00001
|
NM_000135.4(FANCA):c.1251G>T (p.Gln417His)
|
rs779068860
|
0.00001
|
NM_000135.4(FANCA):c.1279A>G (p.Met427Val)
|
rs368103890
|
0.00001
|
NM_000135.4(FANCA):c.1348G>A (p.Asp450Asn)
|
rs1262122499
|
0.00001
|
NM_000135.4(FANCA):c.1360-12C>T
|
rs951725614
|
0.00001
|
NM_000135.4(FANCA):c.1398C>G (p.Ser466Arg)
|
rs565303230
|
0.00001
|
NM_000135.4(FANCA):c.1463A>G (p.Tyr488Cys)
|
rs748907151
|
0.00001
|
NM_000135.4(FANCA):c.1471-8A>G
|
rs374717514
|
0.00001
|
NM_000135.4(FANCA):c.1498C>T (p.Pro500Ser)
|
rs776371246
|
0.00001
|
NM_000135.4(FANCA):c.1500C>T (p.Pro500=)
|
rs139276494
|
0.00001
|
NM_000135.4(FANCA):c.1558G>A (p.Asp520Asn)
|
rs754123446
|
0.00001
|
NM_000135.4(FANCA):c.1566G>A (p.Lys522=)
|
rs1276716915
|
0.00001
|
NM_000135.4(FANCA):c.1632C>A (p.His544Gln)
|
rs553129361
|
0.00001
|
NM_000135.4(FANCA):c.1645C>T (p.Gln549Ter)
|
rs779745863
|
0.00001
|
NM_000135.4(FANCA):c.1654G>A (p.Glu552Lys)
|
rs1012809189
|
0.00001
|
NM_000135.4(FANCA):c.1690A>C (p.Ile564Leu)
|
rs1032990637
|
0.00001
|
NM_000135.4(FANCA):c.1701C>T (p.Thr567=)
|
rs745466726
|
0.00001
|
NM_000135.4(FANCA):c.1734_1739del (p.Tyr578_Val580delinsTer)
|
rs757504102
|
0.00001
|
NM_000135.4(FANCA):c.1737C>T (p.Tyr579=)
|
rs529199293
|
0.00001
|
NM_000135.4(FANCA):c.1776+10C>T
|
rs767506133
|
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.1808T>C (p.Phe603Ser)
|
rs766939940
|
0.00001
|
NM_000135.4(FANCA):c.1835A>G (p.Lys612Arg)
|
rs777736014
|
0.00001
|
NM_000135.4(FANCA):c.1882G>A (p.Ala628Thr)
|
rs766422868
|
0.00001
|
NM_000135.4(FANCA):c.189+1G>T
|
rs891323617
|
0.00001
|
NM_000135.4(FANCA):c.190-1G>C
|
rs765277254
|
0.00001
|
NM_000135.4(FANCA):c.1934C>T (p.Ser645Phe)
|
rs776682683
|
0.00001
|
NM_000135.4(FANCA):c.1944del (p.Glu648fs)
|
rs1555549451
|
0.00001
|
NM_000135.4(FANCA):c.1990A>G (p.Met664Val)
|
rs748579719
|
0.00001
|
NM_000135.4(FANCA):c.2013T>C (p.Asp671=)
|
rs1225307143
|
0.00001
|
NM_000135.4(FANCA):c.2022G>A (p.Ser674=)
|
rs371997754
|
0.00001
|
NM_000135.4(FANCA):c.2026C>T (p.Gln676Ter)
|
rs1448463647
|
0.00001
|
NM_000135.4(FANCA):c.2051T>C (p.Leu684Pro)
|
rs762526878
|
0.00001
|
NM_000135.4(FANCA):c.207T>C (p.Cys69=)
|
rs941660593
|
0.00001
|
NM_000135.4(FANCA):c.2125C>G (p.Pro709Ala)
|
rs746373917
|
0.00001
|
NM_000135.4(FANCA):c.2126C>T (p.Pro709Leu)
|
rs148203537
|
0.00001
|
NM_000135.4(FANCA):c.2147A>G (p.His716Arg)
|
rs751474452
|
0.00001
|
NM_000135.4(FANCA):c.2152-10G>C
|
rs557705265
|
0.00001
|
NM_000135.4(FANCA):c.2180G>A (p.Cys727Tyr)
|
rs1425954290
|
0.00001
|
NM_000135.4(FANCA):c.2186A>G (p.Asn729Ser)
|
rs1440861257
|
0.00001
|
NM_000135.4(FANCA):c.2203A>G (p.Ser735Gly)
|
rs886052485
|
0.00001
|
NM_000135.4(FANCA):c.220C>G (p.Leu74Val)
|
rs770294560
|
0.00001
|
NM_000135.4(FANCA):c.2210C>T (p.Ala737Val)
|
rs199938598
|
0.00001
|
NM_000135.4(FANCA):c.2218G>A (p.Glu740Lys)
|
rs536086288
|
0.00001
|
NM_000135.4(FANCA):c.2233dup (p.Trp745fs)
|
rs2039278551
|
0.00001
|
NM_000135.4(FANCA):c.2247C>T (p.Phe749=)
|
rs772842754
|
0.00001
|
NM_000135.4(FANCA):c.2303T>C (p.Leu768Pro)
|
rs1490352414
|
0.00001
|
NM_000135.4(FANCA):c.2322G>A (p.Pro774=)
|
rs931091451
|
0.00001
|
NM_000135.4(FANCA):c.2348G>T (p.Gly783Val)
|
rs935069258
|
0.00001
|
NM_000135.4(FANCA):c.2394C>T (p.Leu798=)
|
rs765883419
|
0.00001
|
NM_000135.4(FANCA):c.2407G>A (p.Val803Met)
|
rs769083458
|
0.00001
|
NM_000135.4(FANCA):c.2420C>T (p.Ala807Val)
|
rs144570744
|
0.00001
|
NM_000135.4(FANCA):c.2459G>A (p.Ser820Asn)
|
rs1339411422
|
0.00001
|
NM_000135.4(FANCA):c.2474G>A (p.Arg825Lys)
|
rs751222471
|
0.00001
|
NM_000135.4(FANCA):c.2481G>A (p.Arg827=)
|
rs749895479
|
0.00001
|
NM_000135.4(FANCA):c.2502G>A (p.Leu834=)
|
rs770993950
|
0.00001
|
NM_000135.4(FANCA):c.2534T>C (p.Leu845Pro)
|
rs1173704265
|
0.00001
|
NM_000135.4(FANCA):c.2557C>T (p.Arg853Ter)
|
rs752160950
|
0.00001
|
NM_000135.4(FANCA):c.2570G>A (p.Cys857Tyr)
|
rs886052484
|
0.00001
|
NM_000135.4(FANCA):c.2582C>T (p.Ser861Phe)
|
rs980582362
|
0.00001
|
NM_000135.4(FANCA):c.2601+1G>T
|
rs1188581065
|
0.00001
|
NM_000135.4(FANCA):c.260C>G (p.Ala87Gly)
|
rs758619078
|
0.00001
|
NM_000135.4(FANCA):c.2704G>C (p.Asp902His)
|
rs1009521389
|
0.00001
|
NM_000135.4(FANCA):c.2738A>C (p.His913Pro)
|
rs1302083447
|
0.00001
|
NM_000135.4(FANCA):c.2741G>C (p.Arg914Thr)
|
rs748454613
|
0.00001
|
NM_000135.4(FANCA):c.2817T>G (p.Ile939Met)
|
rs769970040
|
0.00001
|
NM_000135.4(FANCA):c.2840C>G (p.Ser947Ter)
|
rs745568821
|
0.00001
|
NM_000135.4(FANCA):c.2852+13A>T
|
rs189890126
|
0.00001
|
NM_000135.4(FANCA):c.2853-2A>C
|
rs947311062
|
0.00001
|
NM_000135.4(FANCA):c.2874G>A (p.Ala958=)
|
rs199916178
|
0.00001
|
NM_000135.4(FANCA):c.2903C>T (p.Ser968Leu)
|
rs779162871
|
0.00001
|
NM_000135.4(FANCA):c.2937T>C (p.Ala979=)
|
rs762638564
|
0.00001
|
NM_000135.4(FANCA):c.2939C>T (p.Ala980Val)
|
rs773070418
|
0.00001
|
NM_000135.4(FANCA):c.2941T>C (p.Cys981Arg)
|
rs191943709
|
0.00001
|
NM_000135.4(FANCA):c.294G>T (p.Leu98Phe)
|
rs751380220
|
0.00001
|
NM_000135.4(FANCA):c.2975A>T (p.His992Leu)
|
rs184007986
|
0.00001
|
NM_000135.4(FANCA):c.3087G>A (p.Glu1029=)
|
rs35402142
|
0.00001
|
NM_000135.4(FANCA):c.3109C>A (p.Pro1037Thr)
|
rs771174892
|
0.00001
|
NM_000135.4(FANCA):c.3136C>T (p.His1046Tyr)
|
rs747913731
|
0.00001
|
NM_000135.4(FANCA):c.317G>C (p.Gly106Ala)
|
rs764893807
|
0.00001
|
NM_000135.4(FANCA):c.3192C>T (p.Ser1064=)
|
rs768502785
|
0.00001
|
NM_000135.4(FANCA):c.3193G>A (p.Val1065Met)
|
rs140124051
|
0.00001
|
NM_000135.4(FANCA):c.3246C>T (p.Leu1082=)
|
rs753864057
|
0.00001
|
NM_000135.4(FANCA):c.3270C>T (p.Leu1090=)
|
rs762719233
|
0.00001
|
NM_000135.4(FANCA):c.3274G>A (p.Gly1092Ser)
|
rs772828870
|
0.00001
|
NM_000135.4(FANCA):c.3338A>T (p.Asn1113Ile)
|
rs1204335568
|
0.00001
|
NM_000135.4(FANCA):c.3357C>T (p.Phe1119=)
|
rs878853664
|
0.00001
|
NM_000135.4(FANCA):c.3366C>T (p.His1122=)
|
rs771815968
|
0.00001
|
NM_000135.4(FANCA):c.3367G>A (p.Gly1123Arg)
|
rs1437529209
|
0.00001
|
NM_000135.4(FANCA):c.338C>T (p.Ser113Leu)
|
rs149903404
|
0.00001
|
NM_000135.4(FANCA):c.343G>A (p.Gly115Arg)
|
rs769824282
|
0.00001
|
NM_000135.4(FANCA):c.3513+1G>A
|
rs1188082371
|
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.353C>T (p.Ala118Val)
|
rs1201642328
|
0.00001
|
NM_000135.4(FANCA):c.3550C>T (p.Arg1184Trp)
|
rs201492940
|
0.00001
|
NM_000135.4(FANCA):c.3556A>G (p.Arg1186Gly)
|
rs748713183
|
0.00001
|
NM_000135.4(FANCA):c.3626+4C>T
|
rs772166806
|
0.00001
|
NM_000135.4(FANCA):c.3626+7G>A
|
rs933657325
|
0.00001
|
NM_000135.4(FANCA):c.3634dup (p.Ser1212fs)
|
rs1374769712
|
0.00001
|
NM_000135.4(FANCA):c.3658C>T (p.Pro1220Ser)
|
rs773150877
|
0.00001
|
NM_000135.4(FANCA):c.3697G>A (p.Ala1233Thr)
|
rs751899346
|
0.00001
|
NM_000135.4(FANCA):c.3703C>G (p.Gln1235Glu)
|
rs769919783
|
0.00001
|
NM_000135.4(FANCA):c.3733C>A (p.Gln1245Lys)
|
rs745665658
|
0.00001
|
NM_000135.4(FANCA):c.3750C>G (p.Asp1250Glu)
|
rs777313447
|
0.00001
|
NM_000135.4(FANCA):c.483C>T (p.Phe161=)
|
rs769389376
|
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.522+1G>T
|
rs1365019056
|
0.00001
|
NM_000135.4(FANCA):c.549G>T (p.Trp183Cys)
|
rs758528624
|
0.00001
|
NM_000135.4(FANCA):c.580C>T (p.Gln194Ter)
|
rs1384166265
|
0.00001
|
NM_000135.4(FANCA):c.582A>G (p.Gln194=)
|
rs748517164
|
0.00001
|
NM_000135.4(FANCA):c.596G>C (p.Ser199Thr)
|
rs764157478
|
0.00001
|
NM_000135.4(FANCA):c.597-1G>C
|
rs147945881
|
0.00001
|
NM_000135.4(FANCA):c.610C>G (p.His204Asp)
|
rs749380996
|
0.00001
|
NM_000135.4(FANCA):c.676C>G (p.Gln226Glu)
|
rs1598177148
|
0.00001
|
NM_000135.4(FANCA):c.695G>A (p.Arg232Lys)
|
rs886052487
|
0.00001
|
NM_000135.4(FANCA):c.700A>G (p.Met234Val)
|
rs1042676101
|
0.00001
|
NM_000135.4(FANCA):c.709+5G>A
|
rs759877008
|
0.00001
|
NM_000135.4(FANCA):c.793-3C>G
|
rs749688050
|
0.00001
|
NM_000135.4(FANCA):c.797C>T (p.Thr266Met)
|
rs752799441
|
0.00001
|
NM_000135.4(FANCA):c.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.894-10G>A
|
rs751912856
|
0.00001
|
NM_000135.4(FANCA):c.894-2A>G
|
rs976556567
|
0.00001
|
NM_000135.4(FANCA):c.908G>A (p.Ser303Asn)
|
rs1060501877
|
0.00001
|
NM_000135.4(FANCA):c.917C>T (p.Thr306Met)
|
rs370852532
|
0.00001
|
NM_000135.4(FANCA):c.982C>G (p.Leu328Val)
|
rs779244841
|
0.00001
|
NM_000135.4(FANCA):c.991del (p.Ser331fs)
|
rs746236214
|
0.00001
|
GRCh37/hg19 16q24.3(chr16:89818649-89883044)
|
|
|
GRCh37/hg19 16q24.3(chr16:89874496-89888566)x1
|
|
|
NC_000016.10:g.(89742939_89744958)_(89745072_89746583)del
|
|
|
NC_000016.10:g.(89742939_89744958)_(89748768_89749729)del
|
|
|
NC_000016.10:g.(89742939_89744958)_(89767238_89769836)del
|
|
|
NC_000016.10:g.(89742939_89744958)_(89816657_?)del
|
|
|
NC_000016.10:g.(89746891_89748658)_(89752223_89758576)del
|
|
|
NC_000016.10:g.(89746891_89748658)_(89770025_89770165)del
|
|
|
NC_000016.10:g.(89746891_89748658)_(89770635_89771677)del
|
|
|
NC_000016.10:g.(89746891_89748658)_(89771815_89773270)del
|
|
|
NC_000016.10:g.(89746891_89748658)_(89796019_89799165)del
|
|
|
NC_000016.10:g.(89748768_89749729)_(89758706_89761948)del
|
|
|
NC_000016.10:g.(89748768_89749729)_(89765067_89767140)del
|
|
|
NC_000016.10:g.(89749903_89752137)_(89758706_89761948)del
|
|
|
NC_000016.10:g.(89749903_89752137)_(89792548_89795905)del
|
|
|
NC_000016.10:g.(89749903_89752137)_(89816657_?)del
|
|
|
NC_000016.10:g.(89752223_89758576)_(89762023_89764889)del
|
|
|
NC_000016.10:g.(89752223_89758576)_(89765067_89767140)del
|
|
|
NC_000016.10:g.(89752223_89758576)_(89767238_89769836)del
|
|
|
NC_000016.10:g.(89752223_89758576)_(89773385_89775741)del
|
|
|
NC_000016.10:g.(89752223_89758576)_(89775816_89778800)del
|
|
|
NC_000016.10:g.(89752223_89758576)_(89783103_89784853)del
|
|
|
NC_000016.10:g.(89752223_89758576)_(89816657_?)del
|
|
|
NC_000016.10:g.(89758706_89761948)_(89765067_89767140)del
|
|
|
NC_000016.10:g.(89758706_89761948)_(89771815_89773270)del
|
|
|
NC_000016.10:g.(89758706_89761948)_(89773385_89775741)del
|
|
|
NC_000016.10:g.(89758706_89761948)_(89775816_89778800)del
|
|
|
NC_000016.10:g.(89758706_89761948)_(89779958_89782858)del
|
|
|
NC_000016.10:g.(89758706_89761948)_(89784965_89791402)del
|
|
|
NC_000016.10:g.(89758706_89761948)_(89805393_89808293)del
|
|
|
NC_000016.10:g.(89762023_89764889)_(89765067_89767140)del
|
|
|
NC_000016.10:g.(89762023_89764889)_(89770635_89771677)del
|
|
|
NC_000016.10:g.(89762023_89764889)_(89773385_89775741)del
|
|
|
NC_000016.10:g.(89762023_89764889)_(89775816_89778800)del
|
|
|
NC_000016.10:g.(89762023_89764889)_(89784965_89791402)del
|
|
|
NC_000016.10:g.(89765067_89767140)_(89803342_89805279)del
|
|
|
NC_000016.10:g.(89767238_89769836)_(89775816_89778800)del
|
|
|
NC_000016.10:g.(89767238_89769836)_(89783103_89784853)del
|
|
|
NC_000016.10:g.(89767238_89769836)_(89811072_89814519)del
|
|
|
NC_000016.10:g.(89770025_89770165)_(89779958_89782858)del
|
|
|
NC_000016.10:g.(89770025_89770165)_(89792069_89792470)del
|
|
|
NC_000016.10:g.(89770635_89771677)_(89771815_89773270)del
|
|
|
NC_000016.10:g.(89770635_89771677)_(89779958_89782858)del
|
|
|
NC_000016.10:g.(89770635_89771677)_(89783103_89784853)del
|
|
|
NC_000016.10:g.(89770635_89771677)_(89784965_89791402)del
|
|
|
NC_000016.10:g.(89770635_89771677)_(89792548_89795905)del
|
|
|
NC_000016.10:g.(89771815_89773270)_(89775816_89778800)del
|
|
|
NC_000016.10:g.(89771815_89773270)_(89778851_89778942)del
|
|
|
NC_000016.10:g.(89771815_89773270)_(89783103_89784853)del
|
|
|
NC_000016.10:g.(89771815_89773270)_(89816657_?)del
|
|
|
NC_000016.10:g.(89773385_89775741)_(89775816_89778800)del
|
|
|
NC_000016.10:g.(89773385_89775741)_(89779958_89782858)del
|
|
|
NC_000016.10:g.(89773385_89775741)_(89784965_89791402)dup
|
|
|
NC_000016.10:g.(89773385_89775741)_(89796019_89799165)del
|
|
|
NC_000016.10:g.(89773385_89775741)_(89799639_89803258)del
|
|
|
NC_000016.10:g.(89773385_89775741)_(89808368_89810706)del
|
|
|
NC_000016.10:g.(89773385_89775741)_(89816657_?)del
|
|
|
NC_000016.10:g.(89775816_89778800)_(89778851_89778942)del
|
|
|
NC_000016.10:g.(89775816_89778800)_(89783103_89784853)del
|
|
|
NC_000016.10:g.(89775816_89778800)_(89784965_89791402)del
|
|
|
NC_000016.10:g.(89775816_89778800)_(89796019_89799165)del
|
|
|
NC_000016.10:g.(89775816_89778800)_(89805393_89808293)del
|
|
|
NC_000016.10:g.(89775816_89778800)_(89808368_89810706)del
|
|
|
NC_000016.10:g.(89775816_89778800)_(89816657_?)del
|
|
|
NC_000016.10:g.(89778851_89778942)_(89779004_89779868)del
|
|
|
NC_000016.10:g.(89779004_89779868)_(89779958_89782858)del
|
|
|
NC_000016.10:g.(89779004_89779868)_(89783103_89784853)del
|
|
|
NC_000016.10:g.(89779004_89779868)_(89799639_89803258)del
|
|
|
NC_000016.10:g.(89779958_89782858)_(89784965_89791402)del
|
|
|
NC_000016.10:g.(89779958_89782858)_(89796019_89799165)del
|
|
|
NC_000016.10:g.(89779958_89782858)_(89799233_89799604)del
|
|
|
NC_000016.10:g.(89779958_89782858)_(89805393_89808293)del
|
|
|
NC_000016.10:g.(89782919_89783006)_(89783103_89784853)del
|
|
|
NC_000016.10:g.(89783103_89784853)_(89784965_89791402)del
|
|
|
NC_000016.10:g.(89784965_89791402)_(89792069_89792470)del
|
|
|
NC_000016.10:g.(89784965_89791402)_(89792548_89795905)del
|
|
|
NC_000016.10:g.(89784965_89791402)_(89796019_89799165)del
|
|
|
NC_000016.10:g.(89784965_89791402)_(89799639_89803258)del
|
|
|
NC_000016.10:g.(89784965_89791402)_(89805393_89808293)del
|
|
|
NC_000016.10:g.(89784965_89791402)_(89808368_89810706)del
|
|
|
NC_000016.10:g.(89784965_89791402)_(89816657_?)del
|
|
|
NC_000016.10:g.(89791537_89791926)_(89792069_89792470)del
|
|
|
NC_000016.10:g.(89791537_89791926)_(89799233_89799604)del
|
|
|
NC_000016.10:g.(89792069_89792470)_(89799233_89799604)del
|
|
|
NC_000016.10:g.(89792069_89792470)_(89816657_?)del
|
|
|
NC_000016.10:g.(89792548_89795905)_(89803342_89805279)del
|
|
|
NC_000016.10:g.(89792548_89795905)_(89805393_89808293)del
|
|
|
NC_000016.10:g.(89792548_89795905)_(89816657_?)del
|
|
|
NC_000016.10:g.(89799233_89799604)_(89799639_89803258)del
|
|
|
NC_000016.10:g.(89799639_89803258)_(89805393_89808293)del
|
|
|
NC_000016.10:g.(89799639_89803258)_(89811072_89814519)del
|
|
|
NC_000016.10:g.(89803342_89805279)_(89805393_89808293)del
|
|
|
NC_000016.10:g.(89803342_89805279)_(89816657_?)del
|
|
|
NC_000016.10:g.(89805279_89805393)_(89816657_?)del
|
|
|
NC_000016.10:g.(89805393_89808293)_(89808368_89810706)del
|
|
|
NC_000016.10:g.(89805393_89808293)_(89814614_89815876)del
|
|
|
NC_000016.10:g.(89805393_89808293)_(89816657_?)del
|
|
|
NC_000016.10:g.(89808368_89810706)_(89810803_89810928)del
|
|
|
NC_000016.10:g.(89808368_89810706)_(89811072_89814519)del
|
|
|
NC_000016.10:g.(89808368_89810706)_(89815987_89816536)del
|
|
|
NC_000016.10:g.(89808368_89810706)_(89816657_?)del
|
|
|
NC_000016.10:g.(89811072_89814519)_(89814614_89815876)del
|
|
|
NC_000016.10:g.(89814614_89815876)_(89816657_?)del
|
|
|
NC_000016.10:g.(89815987_89816536)_(89816657_?)del
|
|
|
NC_000016.10:g.89748659_89762022del
|
|
|
NC_000016.10:g.89752141_89762025del
|
|
|
NC_000016.10:g.89754008_89816657del
|
|
|
NC_000016.9:g.(89815176_89816137)_(89866047_89869666)del
|
|
|
NC_000016.9:g.(89816311_89818545)_(89871801_89874701)del
|
|
|
NC_000016.9:g.(89825114_89828356)_(89877480_89880927)del
|
|
|
NC_000016.9:g.89844985_89869211del
|
|
|
NM_000135.2(FANCA):c.(?_-42)_3066+281del
|
|
|
NM_000135.2(FANCA):c.(?_-42)_597-800del
|
|
|
NM_000135.2(FANCA):c.1007-10_2504+209del
|
|
|
NM_000135.2(FANCA):c.2779_2852del
|
rs2038967116
|
|
NM_000135.2(FANCA):c.284del
|
rs2040861554
|
|
NM_000135.2:c.1471-490_3627-655del
|
|
|
NM_000135.2:c.1471_1626del
|
|
|
NM_000135.2:c.1627_1900del
|
|
|
NM_000135.2:c.523_2601del
|
|
|
NM_000135.2:c.894_2641del
|
|
|
NM_000135.4(FANCA):c.1006+1G>A
|
|
|
NM_000135.4(FANCA):c.1006+1G>T
|
rs1555564436
|
|
NM_000135.4(FANCA):c.1006+2_1006+5del
|
rs2040229450
|
|
NM_000135.4(FANCA):c.1007-1del
|
rs2040110823
|
|
NM_000135.4(FANCA):c.1007-2A>G
|
rs2040110878
|
|
NM_000135.4(FANCA):c.1034_1035del (p.Glu345fs)
|
rs769580546
|
|
NM_000135.4(FANCA):c.1037G>A (p.Trp346Ter)
|
|
|
NM_000135.4(FANCA):c.1049G>T (p.Arg350Leu)
|
rs199967286
|
|
NM_000135.4(FANCA):c.105T>A (p.Tyr35Ter)
|
|
|
NM_000135.4(FANCA):c.1061T>A (p.Leu354Gln)
|
|
|
NM_000135.4(FANCA):c.1070C>A (p.Ser357Ter)
|
rs773687142
|
|
NM_000135.4(FANCA):c.1073T>G (p.Leu358Arg)
|
rs1045404649
|
|
NM_000135.4(FANCA):c.1074_1075del (p.Tyr359fs)
|
rs878853660
|
|
NM_000135.4(FANCA):c.1083+1del
|
|
|
NM_000135.4(FANCA):c.1084-1G>T
|
|
|
NM_000135.4(FANCA):c.1085T>C (p.Leu362Pro)
|
rs2040094645
|
|
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs)
|
rs397507552
|
|
NM_000135.4(FANCA):c.1124T>G (p.Leu375Trp)
|
rs2040093463
|
|
NM_000135.4(FANCA):c.1143G>A (p.Thr381=)
|
rs1800331
|
|
NM_000135.4(FANCA):c.1147del (p.Glu383fs)
|
rs2040092247
|
|
NM_000135.4(FANCA):c.1150G>A (p.Val384Ile)
|
rs751071791
|
|
NM_000135.4(FANCA):c.1158G>A (p.Trp386Ter)
|
rs752864343
|
|
NM_000135.4(FANCA):c.1159C>T (p.Gln387Ter)
|
|
|
NM_000135.4(FANCA):c.1162A>T (p.Arg388Ter)
|
rs2040091746
|
|
NM_000135.4(FANCA):c.1164_1165del (p.Arg388fs)
|
rs2040091643
|
|
NM_000135.4(FANCA):c.1165G>T (p.Val389Leu)
|
|
|
NM_000135.4(FANCA):c.1193_1196del (p.Val398fs)
|
rs2040090895
|
|
NM_000135.4(FANCA):c.119C>T (p.Ala40Val)
|
rs563060518
|
|
NM_000135.4(FANCA):c.1220T>G (p.Leu407Arg)
|
rs2040089994
|
|
NM_000135.4(FANCA):c.1222G>T (p.Glu408Ter)
|
|
|
NM_000135.4(FANCA):c.1226-13G>A
|
rs377159744
|
|
NM_000135.4(FANCA):c.1226-2A>C
|
|
|
NM_000135.4(FANCA):c.1226-6_1226-2del
|
rs2040076730
|
|
NM_000135.4(FANCA):c.1231_1234del (p.Val411fs)
|
|
|
NM_000135.4(FANCA):c.1258G>A (p.Glu420Lys)
|
|
|
NM_000135.4(FANCA):c.1267C>T (p.Gln423Ter)
|
rs774026652
|
|
NM_000135.4(FANCA):c.1273G>C (p.Asp425His)
|
rs1555561398
|
|
NM_000135.4(FANCA):c.1273dup (p.Asp425fs)
|
|
|
NM_000135.4(FANCA):c.1287del (p.Ala430fs)
|
|
|
NM_000135.4(FANCA):c.128T>A (p.Leu43Ter)
|
rs1158456786
|
|
NM_000135.4(FANCA):c.128T>G (p.Leu43Ter)
|
rs1158456786
|
|
NM_000135.4(FANCA):c.1290G>A (p.Ala430=)
|
rs1800332
|
|
NM_000135.4(FANCA):c.1290G>T (p.Ala430=)
|
rs1800332
|
|
NM_000135.4(FANCA):c.1292dup (p.Leu432fs)
|
rs1416639878
|
|
NM_000135.4(FANCA):c.1294del (p.Leu432fs)
|
rs1211579979
|
|
NM_000135.4(FANCA):c.1304G>A (p.Arg435His)
|
rs1060501879
|
|
NM_000135.4(FANCA):c.1304G>T (p.Arg435Leu)
|
rs1060501879
|
|
NM_000135.4(FANCA):c.1307A>G (p.Gln436Arg)
|
rs2040074214
|
|
NM_000135.4(FANCA):c.1315C>A (p.Leu439Met)
|
rs1307948857
|
|
NM_000135.4(FANCA):c.1326del (p.Ser443fs)
|
|
|
NM_000135.4(FANCA):c.1328C>G (p.Ser443Cys)
|
rs367733447
|
|
NM_000135.4(FANCA):c.1340C>G (p.Ser447Ter)
|
rs149551759
|
|
NM_000135.4(FANCA):c.1342T>C (p.Tyr448His)
|
rs1567635573
|
|
NM_000135.4(FANCA):c.1343A>G (p.Tyr448Cys)
|
rs769203048
|
|
NM_000135.4(FANCA):c.1345G>A (p.Ala449Thr)
|
rs2040073158
|
|
NM_000135.4(FANCA):c.1352G>A (p.Trp451Ter)
|
|
|
NM_000135.4(FANCA):c.1359+1G>C
|
rs1555561294
|
|
NM_000135.4(FANCA):c.1359+4A>T
|
rs35476732
|
|
NM_000135.4(FANCA):c.1360-16_1363dup
|
rs1555556321
|
|
NM_000135.4(FANCA):c.1360-4A>G
|
rs746911316
|
|
NM_000135.4(FANCA):c.1367T>C (p.Phe456Ser)
|
|
|
NM_000135.4(FANCA):c.1378C>T (p.Arg460Ter)
|
rs1438828232
|
|
NM_000135.4(FANCA):c.1394G>C (p.Cys465Ser)
|
rs2039847109
|
|
NM_000135.4(FANCA):c.1406C>T (p.Ala469Val)
|
rs2039846606
|
|
NM_000135.4(FANCA):c.1408C>A (p.Leu470Met)
|
rs752092543
|
|
NM_000135.4(FANCA):c.1408C>G (p.Leu470Val)
|
rs752092543
|
|
NM_000135.4(FANCA):c.1430del (p.Leu477fs)
|
rs2039845956
|
|
NM_000135.4(FANCA):c.1450G>T (p.Glu484Ter)
|
rs2039845162
|
|
NM_000135.4(FANCA):c.1459dup (p.Arg487fs)
|
rs2039844868
|
|
NM_000135.4(FANCA):c.1464C>G (p.Tyr488Ter)
|
rs2039844441
|
|
NM_000135.4(FANCA):c.1468C>T (p.Gln490Ter)
|
rs1266348463
|
|
NM_000135.4(FANCA):c.1470+1G>A
|
rs1555556175
|
|
NM_000135.4(FANCA):c.1470+1G>T
|
rs1555556175
|
|
NM_000135.4(FANCA):c.1470+2T>C
|
rs2039844134
|
|
NM_000135.4(FANCA):c.1470G>A (p.Gln490=)
|
rs2039844218
|
|
NM_000135.4(FANCA):c.1471-10C>G
|
rs368356709
|
|
NM_000135.4(FANCA):c.1471-1G>T
|
rs2039777078
|
|
NM_000135.4(FANCA):c.1471-738_1627-883del
|
|
|
NM_000135.4(FANCA):c.1475A>G (p.His492Arg)
|
rs925457555
|
|
NM_000135.4(FANCA):c.1475A>T (p.His492Leu)
|
rs925457555
|
|
NM_000135.4(FANCA):c.1476_1477del (p.Ile493fs)
|
rs1555554788
|
|
NM_000135.4(FANCA):c.1492del (p.Leu498fs)
|
|
|
NM_000135.4(FANCA):c.1508dup (p.Tyr503Ter)
|
rs2039775751
|
|
NM_000135.4(FANCA):c.1509C>G (p.Tyr503Ter)
|
rs1598136954
|
|
NM_000135.4(FANCA):c.1518C>T (p.Leu506=)
|
rs781524409
|
|
NM_000135.4(FANCA):c.1535C>G (p.Ser512Ter)
|
rs2039774778
|
|
NM_000135.4(FANCA):c.155_161del (p.Arg52fs)
|
|
|
NM_000135.4(FANCA):c.1566+2C>T
|
rs1316950815
|
|
NM_000135.4(FANCA):c.1566+3A>C
|
rs2039773398
|
|
NM_000135.4(FANCA):c.1567-1G>C
|
rs1464032361
|
|
NM_000135.4(FANCA):c.1567-20A>G
|
rs775154397
|
|
NM_000135.4(FANCA):c.1567G>T (p.Val523Phe)
|
|
|
NM_000135.4(FANCA):c.1568T>A (p.Val523Asp)
|
rs2039769336
|
|
NM_000135.4(FANCA):c.1571C>G (p.Ser524Cys)
|
rs753719658
|
|
NM_000135.4(FANCA):c.1573A>T (p.Ile525Leu)
|
rs755925068
|
|
NM_000135.4(FANCA):c.1585G>T (p.Gly529Ter)
|
rs2039768709
|
|
NM_000135.4(FANCA):c.1594G>C (p.Glu532Gln)
|
rs374490484
|
|
NM_000135.4(FANCA):c.1606del (p.Ser536fs)
|
rs587776570
|
|
NM_000135.4(FANCA):c.1607C>G (p.Ser536Ter)
|
rs769047348
|
|
NM_000135.4(FANCA):c.1615del (p.Asp539fs)
|
rs778507965
|
|
NM_000135.4(FANCA):c.1625A>T (p.Glu542Val)
|
rs587778310
|
|
NM_000135.4(FANCA):c.1626+967_2015-679del
|
|
|
NM_000135.4(FANCA):c.1627-1G>T
|
rs2039644862
|
|
NM_000135.4(FANCA):c.1627C>T (p.Pro543Ser)
|
rs763074159
|
|
NM_000135.4(FANCA):c.1630del (p.His544fs)
|
|
|
NM_000135.4(FANCA):c.163C>T (p.Gln55Ter)
|
rs1555580427
|
|
NM_000135.4(FANCA):c.1654G>T (p.Glu552Ter)
|
|
|
NM_000135.4(FANCA):c.1682C>T (p.Thr561Met)
|
rs148154682
|
|
NM_000135.4(FANCA):c.1683_1689del (p.Gly562fs)
|
rs2039643136
|
|
NM_000135.4(FANCA):c.168_173del (p.Leu57_Asn58del)
|
rs1060501881
|
|
NM_000135.4(FANCA):c.1703del (p.Val568fs)
|
rs2039642419
|
|
NM_000135.4(FANCA):c.1709_1715+4del
|
rs2039641869
|
|
NM_000135.4(FANCA):c.1715+1G>T
|
rs1555552506
|
|
NM_000135.4(FANCA):c.1715+3_1715+13del
|
rs2143432038
|
|
NM_000135.4(FANCA):c.171_172insT (p.Asn58Ter)
|
rs2041096125
|
|
NM_000135.4(FANCA):c.1738_1742delinsCCGCCT (p.Val580fs)
|
rs2039611494
|
|
NM_000135.4(FANCA):c.173dup (p.Asn58fs)
|
rs2041095962
|
|
NM_000135.4(FANCA):c.1753C>T (p.Pro585Ser)
|
rs2039611087
|
|
NM_000135.4(FANCA):c.1755C>T (p.Pro585=)
|
rs144704750
|
|
NM_000135.4(FANCA):c.1771C>T (p.Arg591Ter)
|
rs753980264
|
|
NM_000135.4(FANCA):c.1776+7A>G
|
rs1555552070
|
|
NM_000135.4(FANCA):c.1777-3_1783del
|
rs2039605605
|
|
NM_000135.4(FANCA):c.1792G>A (p.Asp598Asn)
|
rs2039605345
|
|
NM_000135.4(FANCA):c.1794C>G (p.Asp598Glu)
|
rs2143422796
|
|
NM_000135.4(FANCA):c.1796C>T (p.Ser599Phe)
|
rs562319781
|
|
NM_000135.4(FANCA):c.1796_1800dup (p.Val601fs)
|
rs1555552006
|
|
NM_000135.4(FANCA):c.1799G>C (p.Arg600Pro)
|
rs775917892
|
|
NM_000135.4(FANCA):c.1805C>T (p.Ala602Val)
|
rs374968669
|
|
NM_000135.4(FANCA):c.1809dup (p.Ile604fs)
|
rs1343140664
|
|
NM_000135.4(FANCA):c.1811_1812dup (p.Glu605Ter)
|
|
|
NM_000135.4(FANCA):c.1814_1815del (p.Glu605fs)
|
rs759899153
|
|
NM_000135.4(FANCA):c.1822A>T (p.Lys608Ter)
|
rs938278864
|
|
NM_000135.4(FANCA):c.1826+2T>C
|
|
|
NM_000135.4(FANCA):c.1826+4T>A
|
rs979666807
|
|
NM_000135.4(FANCA):c.1827-2A>G
|
rs2143393518
|
|
NM_000135.4(FANCA):c.182_183insC (p.Leu61fs)
|
rs2041095238
|
|
NM_000135.4(FANCA):c.182_184delinsGG (p.Leu61fs)
|
|
|
NM_000135.4(FANCA):c.1844dup (p.Ser616fs)
|
rs779375100
|
|
NM_000135.4(FANCA):c.1850_1859del (p.Leu617fs)
|
rs2143393148
|
|
NM_000135.4(FANCA):c.1874G>A (p.Cys625Tyr)
|
rs139235751
|
|
NM_000135.4(FANCA):c.187G>T (p.Glu63Ter)
|
|
|
NM_000135.4(FANCA):c.1888G>T (p.Glu630Ter)
|
|
|
NM_000135.4(FANCA):c.189+1G>A
|
rs891323617
|
|
NM_000135.4(FANCA):c.189+2T>A
|
rs2041094594
|
|
NM_000135.4(FANCA):c.190-146_284-1082del
|
|
|
NM_000135.4(FANCA):c.190-1G>T
|
rs765277254
|
|
NM_000135.4(FANCA):c.190-494_597-592del
|
|
|
NM_000135.4(FANCA):c.1900+1G>T
|
rs1598120768
|
|
NM_000135.4(FANCA):c.1901-1G>A
|
rs1485075318
|
|
NM_000135.4(FANCA):c.1901-2A>G
|
rs1555549535
|
|
NM_000135.4(FANCA):c.1901-3C>A
|
rs17226526
|
|
NM_000135.4(FANCA):c.1901-9T>G
|
rs886052486
|
|
NM_000135.4(FANCA):c.1912G>T (p.Gly638Ter)
|
rs2143367693
|
|
NM_000135.4(FANCA):c.1951G>T (p.Gly651Ter)
|
rs140785340
|
|
NM_000135.4(FANCA):c.1960A>G (p.Thr654Ala)
|
rs1555549412
|
|
NM_000135.4(FANCA):c.1960A>T (p.Thr654Ser)
|
|
|
NM_000135.4(FANCA):c.1972G>T (p.Gly658Ter)
|
|
|
NM_000135.4(FANCA):c.1979T>C (p.Leu660Pro)
|
rs1567621042
|
|
NM_000135.4(FANCA):c.2001dup (p.Ser668fs)
|
rs2143366568
|
|
NM_000135.4(FANCA):c.2005C>T (p.Gln669Ter)
|
rs2039386741
|
|
NM_000135.4(FANCA):c.2014+1G>C
|
rs1598116164
|
|
NM_000135.4(FANCA):c.2015-1G>A
|
rs1555548632
|
|
NM_000135.4(FANCA):c.2015-1G>T
|
rs1555548632
|
|
NM_000135.4(FANCA):c.2015-4G>A
|
rs373954227
|
|
NM_000135.4(FANCA):c.2015-4G>T
|
rs373954227
|
|
NM_000135.4(FANCA):c.2021C>A (p.Ser674Ter)
|
rs17232973
|
|
NM_000135.4(FANCA):c.2024C>T (p.Ala675Val)
|
rs986889143
|
|
NM_000135.4(FANCA):c.2054G>C (p.Arg685Thr)
|
rs1183781456
|
|
NM_000135.4(FANCA):c.2066del (p.Gly689fs)
|
rs2039334639
|
|
NM_000135.4(FANCA):c.206_207del (p.Leu68_Cys69insTer)
|
rs2143711627
|
|
NM_000135.4(FANCA):c.2072A>T (p.Asn691Ile)
|
|
|
NM_000135.4(FANCA):c.2082_2088dup (p.Val697fs)
|
rs754104046
|
|
NM_000135.4(FANCA):c.2087G>T (p.Ser696Ile)
|
|
|
NM_000135.4(FANCA):c.2089G>C (p.Val697Leu)
|
rs376888740
|
|
NM_000135.4(FANCA):c.2107C>T (p.Gln703Ter)
|
rs1555548512
|
|
NM_000135.4(FANCA):c.2119A>G (p.Asn707Asp)
|
|
|
NM_000135.4(FANCA):c.2121del (p.Asn707fs)
|
rs2039331837
|
|
NM_000135.4(FANCA):c.2127G>A (p.Pro709=)
|
rs771226546
|
|
NM_000135.4(FANCA):c.2143G>T (p.Glu715Ter)
|
rs781436006
|
|
NM_000135.4(FANCA):c.2150dup (p.Met717fs)
|
|
|
NM_000135.4(FANCA):c.2151+1G>A
|
rs1555548428
|
|
NM_000135.4(FANCA):c.2151+1dup
|
rs777971510
|
|
NM_000135.4(FANCA):c.2151+2T>C
|
rs937874201
|
|
NM_000135.4(FANCA):c.2151+2_2151+3insG
|
rs2039330307
|
|
NM_000135.4(FANCA):c.2151+7G>A
|
rs2039330078
|
|
NM_000135.4(FANCA):c.2164CTG[1] (p.Leu723del)
|
rs1567618907
|
|
NM_000135.4(FANCA):c.2170A>C (p.Thr724Pro)
|
rs2039290343
|
|
NM_000135.4(FANCA):c.2172dup (p.Ser725fs)
|
rs1555547955
|
|
NM_000135.4(FANCA):c.2175_2182del (p.Phe726fs)
|
rs1555547935
|
|
NM_000135.4(FANCA):c.2178C>G (p.Phe726Leu)
|
rs1163885123
|
|
NM_000135.4(FANCA):c.2187C>A (p.Asn729Lys)
|
|
|
NM_000135.4(FANCA):c.2189T>C (p.Leu730Pro)
|
rs2039289431
|
|
NM_000135.4(FANCA):c.2222+1G>C
|
rs775388912
|
|
NM_000135.4(FANCA):c.2222+1G>T
|
rs775388912
|
|
NM_000135.4(FANCA):c.2223-114C>T
|
rs886952
|
|
NM_000135.4(FANCA):c.2223-3C>G
|
rs2039278966
|
|
NM_000135.4(FANCA):c.2223-8C>G
|
rs1598110961
|
|
NM_000135.4(FANCA):c.2224C>A (p.Gln742Lys)
|
rs1239354393
|
|
NM_000135.4(FANCA):c.2234G>A (p.Trp745Ter)
|
rs1338018512
|
|
NM_000135.4(FANCA):c.2247del (p.Phe749fs)
|
|
|
NM_000135.4(FANCA):c.2257A>G (p.Met753Val)
|
rs757797015
|
|
NM_000135.4(FANCA):c.2267G>C (p.Arg756Pro)
|
rs137913973
|
|
NM_000135.4(FANCA):c.226A>T (p.Lys76Ter)
|
|
|
NM_000135.4(FANCA):c.2282T>A (p.Val761Glu)
|
rs2039276663
|
|
NM_000135.4(FANCA):c.2284C>A (p.Leu762Ile)
|
|
|
NM_000135.4(FANCA):c.2286C>T (p.Leu762=)
|
rs1419118181
|
|
NM_000135.4(FANCA):c.2290C>T (p.Arg764Trp)
|
rs751572448
|
|
NM_000135.4(FANCA):c.2305C>T (p.Leu769Phe)
|
rs917707717
|
|
NM_000135.4(FANCA):c.2314C>T (p.Gln772Ter)
|
rs761725308
|
|
NM_000135.4(FANCA):c.2316+1G>T
|
rs2039275333
|
|
NM_000135.4(FANCA):c.2316+1_2316+3del
|
rs2039275264
|
|
NM_000135.4(FANCA):c.2316+9C>T
|
rs776301232
|
|
NM_000135.4(FANCA):c.2317-2A>G
|
rs1567618264
|
|
NM_000135.4(FANCA):c.2317-30_2317-1del
|
|
|
NM_000135.4(FANCA):c.2324G>C (p.Ser775Thr)
|
rs2039267533
|
|
NM_000135.4(FANCA):c.2327dup (p.Ser777fs)
|
rs2039267300
|
|
NM_000135.4(FANCA):c.233_236del (p.Ile78fs)
|
rs2041026343
|
|
NM_000135.4(FANCA):c.2351dup (p.Leu784fs)
|
rs2039266434
|
|
NM_000135.4(FANCA):c.2362G>C (p.Ala788Pro)
|
rs1036897594
|
|
NM_000135.4(FANCA):c.236_239del (p.Asp79fs)
|
rs1336033143
|
|
NM_000135.4(FANCA):c.238del (p.Cys80fs)
|
rs864622187
|
|
NM_000135.4(FANCA):c.2398G>T (p.Glu800Ter)
|
rs1555547474
|
|
NM_000135.4(FANCA):c.2399A>G (p.Glu800Gly)
|
rs2039264657
|
|
NM_000135.4(FANCA):c.240_241del (p.Cys80_Asp81delinsTer)
|
rs1363946483
|
|
NM_000135.4(FANCA):c.2426delinsACTGA (p.Gly809delinsAspTer)
|
|
|
NM_000135.4(FANCA):c.2432G>A (p.Gly811Asp)
|
rs201152989
|
|
NM_000135.4(FANCA):c.2444C>G (p.Pro815Arg)
|
rs778009295
|
|
NM_000135.4(FANCA):c.2450T>C (p.Leu817Pro)
|
rs1307805145
|
|
NM_000135.4(FANCA):c.2472T>A (p.Cys824Ter)
|
rs2039261844
|
|
NM_000135.4(FANCA):c.2489T>A (p.Leu830Ter)
|
rs772477788
|
|
NM_000135.4(FANCA):c.2492TCT[1] (p.Phe832del)
|
rs1310756192
|
|
NM_000135.4(FANCA):c.2496C>T (p.Phe832=)
|
rs2039260982
|
|
NM_000135.4(FANCA):c.2499C>A (p.Cys833Ter)
|
rs2039260856
|
|
NM_000135.4(FANCA):c.2504+12_2504+14del
|
rs1023581563
|
|
NM_000135.4(FANCA):c.2504+134A>G
|
rs2039254077
|
|
NM_000135.4(FANCA):c.2504+1G>A
|
rs2039260545
|
|
NM_000135.4(FANCA):c.2504+2T>C
|
rs2039260502
|
|
NM_000135.4(FANCA):c.2504+3G>A
|
rs2039260426
|
|
NM_000135.4(FANCA):c.2504+5G>T
|
rs2039260372
|
|
NM_000135.4(FANCA):c.2505-2A>C
|
|
|
NM_000135.4(FANCA):c.2513C>G (p.Thr838Arg)
|
rs1216922486
|
|
NM_000135.4(FANCA):c.2519C>G (p.Ala840Gly)
|
rs587778313
|
|
NM_000135.4(FANCA):c.2524del (p.Ser842fs)
|
rs1205909298
|
|
NM_000135.4(FANCA):c.2527T>G (p.Tyr843Asp)
|
rs374030577
|
|
NM_000135.4(FANCA):c.2529C>A (p.Tyr843Ter)
|
rs1247378731
|
|
NM_000135.4(FANCA):c.2529C>G (p.Tyr843Ter)
|
rs1247378731
|
|
NM_000135.4(FANCA):c.2533_2536del (p.Leu845fs)
|
rs763378933
|
|
NM_000135.4(FANCA):c.2535_2536del (p.Cys846fs)
|
rs763378933
|
|
NM_000135.4(FANCA):c.2546del (p.Ser849fs)
|
rs1060501876
|
|
NM_000135.4(FANCA):c.2555C>A (p.Ser852Ter)
|
rs761469030
|
|
NM_000135.4(FANCA):c.2587G>A (p.Gly863Ser)
|
rs2039157272
|
|
NM_000135.4(FANCA):c.258T>A (p.Tyr86Ter)
|
rs1452688134
|
|
NM_000135.4(FANCA):c.2593A>G (p.Ile865Val)
|
rs878853662
|
|
NM_000135.4(FANCA):c.2594_2595del (p.Ile865fs)
|
|
|
NM_000135.4(FANCA):c.2601G>C (p.Lys867Asn)
|
rs746889340
|
|
NM_000135.4(FANCA):c.2601G>T (p.Lys867Asn)
|
rs746889340
|
|
NM_000135.4(FANCA):c.2602-14A>C
|
rs886052483
|
|
NM_000135.4(FANCA):c.2602-18G>C
|
rs774316884
|
|
NM_000135.4(FANCA):c.2602-19G>C
|
rs17233225
|
|
NM_000135.4(FANCA):c.2708G>A (p.Trp903Ter)
|
rs1354272260
|
|
NM_000135.4(FANCA):c.2723T>C (p.Leu908Pro)
|
rs2039075542
|
|
NM_000135.4(FANCA):c.2728C>A (p.Leu910Ile)
|
rs1216426444
|
|
NM_000135.4(FANCA):c.2728C>T (p.Leu910Phe)
|
rs1216426444
|
|
NM_000135.4(FANCA):c.2729T>C (p.Leu910Pro)
|
|
|
NM_000135.4(FANCA):c.2730_2731del (p.Trp911fs)
|
rs878853663
|
|
NM_000135.4(FANCA):c.2734A>C (p.Thr912Pro)
|
rs1220495259
|
|
NM_000135.4(FANCA):c.2736dup (p.His913fs)
|
rs2039074823
|
|
NM_000135.4(FANCA):c.2749C>T (p.Arg917Ter)
|
rs1060501880
|
|
NM_000135.4(FANCA):c.275C>A (p.Ser92Ter)
|
rs1183559927
|
|
NM_000135.4(FANCA):c.275C>G (p.Ser92Ter)
|
rs1183559927
|
|
NM_000135.4(FANCA):c.2762A>T (p.Lys921Ile)
|
rs879255255
|
|
NM_000135.4(FANCA):c.2763_2769del (p.Glu922fs)
|
rs1555545421
|
|
NM_000135.4(FANCA):c.2778+1G>C
|
rs140180549
|
|
NM_000135.4(FANCA):c.2778+1G>T
|
rs140180549
|
|
NM_000135.4(FANCA):c.2778+2T>C
|
rs1458001028
|
|
NM_000135.4(FANCA):c.2778+83C>G
|
rs750997715
|
|
NM_000135.4(FANCA):c.2779-5C>G
|
rs753286882
|
|
NM_000135.4(FANCA):c.2786A>C (p.Tyr929Ser)
|
rs2038969615
|
|
NM_000135.4(FANCA):c.2794T>C (p.Trp932Arg)
|
rs2038969261
|
|
NM_000135.4(FANCA):c.2806G>A (p.Glu936Lys)
|
rs2038968872
|
|
NM_000135.4(FANCA):c.2807A>G (p.Glu936Gly)
|
rs766643461
|
|
NM_000135.4(FANCA):c.2812_2830dup (p.Asp944delinsGlyAsnSerThrTer)
|
rs1283284704
|
|
NM_000135.4(FANCA):c.2827_2845dup (p.Thr949delinsSerTer)
|
rs2038967521
|
|
NM_000135.4(FANCA):c.283+1G>A
|
rs1232171121
|
|
NM_000135.4(FANCA):c.283+1G>T
|
rs1232171121
|
|
NM_000135.4(FANCA):c.283+1del
|
rs2041024132
|
|
NM_000135.4(FANCA):c.283+2T>C
|
|
|
NM_000135.4(FANCA):c.283+3A>C
|
rs786204204
|
|
NM_000135.4(FANCA):c.2839dup (p.Ser947fs)
|
rs756367276
|
|
NM_000135.4(FANCA):c.284-1328_705del
|
|
|
NM_000135.4(FANCA):c.284-2A>C
|
|
|
NM_000135.4(FANCA):c.284-9G>C
|
rs367672895
|
|
NM_000135.4(FANCA):c.2843A>T (p.Asp948Val)
|
rs193172749
|
|
NM_000135.4(FANCA):c.2848G>T (p.Glu950Ter)
|
rs2038967261
|
|
NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp)
|
rs755546887
|
|
NM_000135.4(FANCA):c.2852+12A>T
|
rs2038966561
|
|
NM_000135.4(FANCA):c.2852+1del
|
|
|
NM_000135.4(FANCA):c.2852+1dup
|
|
|
NM_000135.4(FANCA):c.2853-15_2856del
|
rs1285346388
|
|
NM_000135.4(FANCA):c.2853-4C>A
|
rs1289126600
|
|
NM_000135.4(FANCA):c.2853-8T>C
|
rs2038845082
|
|
NM_000135.4(FANCA):c.2854C>T (p.Gln952Ter)
|
rs2038844790
|
|
NM_000135.4(FANCA):c.2859C>A (p.Asp953Glu)
|
rs149112292
|
|
NM_000135.4(FANCA):c.285_522+1del
|
rs2040843894
|
|
NM_000135.4(FANCA):c.2862C>G (p.Phe954Leu)
|
rs2038844439
|
|
NM_000135.4(FANCA):c.2866C>T (p.Gln956Ter)
|
rs2038844292
|
|
NM_000135.4(FANCA):c.2870G>A (p.Trp957Ter)
|
rs927630499
|
|
NM_000135.4(FANCA):c.2872del (p.Ala958fs)
|
rs2038844082
|
|
NM_000135.4(FANCA):c.2880T>A (p.His960Gln)
|
rs2038843708
|
|
NM_000135.4(FANCA):c.2904G>A (p.Ser968=)
|
rs568354015
|
|
NM_000135.4(FANCA):c.2910del (p.Gly972fs)
|
rs1278836130
|
|
NM_000135.4(FANCA):c.2915del (p.Gly972fs)
|
|
|
NM_000135.4(FANCA):c.2938G>C (p.Ala980Pro)
|
rs2038841366
|
|
NM_000135.4(FANCA):c.2959G>C (p.Ala987Pro)
|
rs752735858
|
|
NM_000135.4(FANCA):c.295C>T (p.Gln99Ter)
|
rs1057516430
|
|
NM_000135.4(FANCA):c.2981+1G>A
|
rs1555542860
|
|
NM_000135.4(FANCA):c.2982-192A>G
|
rs2038628210
|
|
NM_000135.4(FANCA):c.2982-1G>C
|
rs1555540076
|
|
NM_000135.4(FANCA):c.2982C>G (p.Ser994Arg)
|
rs1555540072
|
|
NM_000135.4(FANCA):c.2984C>G (p.Ser995Ter)
|
|
|
NM_000135.4(FANCA):c.2989A>T (p.Ser997Cys)
|
rs2038619848
|
|
NM_000135.4(FANCA):c.2990_2993del (p.Ser997fs)
|
rs1555540048
|
|
NM_000135.4(FANCA):c.2993dup (p.Tyr998Ter)
|
|
|
NM_000135.4(FANCA):c.2994T>G (p.Tyr998Ter)
|
|
|
NM_000135.4(FANCA):c.3017T>A (p.Leu1006Ter)
|
rs2038618125
|
|
NM_000135.4(FANCA):c.301C>T (p.Gln101Ter)
|
|
|
NM_000135.4(FANCA):c.3021_3027del (p.Phe1008fs)
|
rs2038617702
|
|
NM_000135.4(FANCA):c.3043G>A (p.Glu1015Lys)
|
rs1443921504
|
|
NM_000135.4(FANCA):c.3043_3051delinsCCTC (p.Glu1015fs)
|
|
|
NM_000135.4(FANCA):c.3066+1G>A
|
rs587783028
|
|
NM_000135.4(FANCA):c.3066+1G>T
|
rs587783028
|
|
NM_000135.4(FANCA):c.3067-1G>A
|
rs2038522097
|
|
NM_000135.4(FANCA):c.306del (p.Ser103fs)
|
|
|
NM_000135.4(FANCA):c.3070A>G (p.Met1024Val)
|
rs1567603987
|
|
NM_000135.4(FANCA):c.308C>G (p.Ser103Ter)
|
rs147176389
|
|
NM_000135.4(FANCA):c.3091C>T (p.Gln1031Ter)
|
rs1270910813
|
|
NM_000135.4(FANCA):c.3096del (p.Asp1033fs)
|
|
|
NM_000135.4(FANCA):c.3130C>T (p.Gln1044Ter)
|
rs1172710952
|
|
NM_000135.4(FANCA):c.3133G>T (p.Glu1045Ter)
|
rs2038519770
|
|
NM_000135.4(FANCA):c.3141_3146del (p.Leu1048_Phe1049del)
|
rs2038519209
|
|
NM_000135.4(FANCA):c.3142dup (p.Leu1048fs)
|
rs1405317971
|
|
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.3154T>C (p.Phe1052Leu)
|
|
|
NM_000135.4(FANCA):c.3155T>C (p.Phe1052Ser)
|
|
|
NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp)
|
rs753063086
|
|
NM_000135.4(FANCA):c.3164G>A (p.Arg1055Gln)
|
rs1429943036
|
|
NM_000135.4(FANCA):c.3164G>T (p.Arg1055Leu)
|
rs1429943036
|
|
NM_000135.4(FANCA):c.3166_3185dup (p.Gly1062_Trp1063insSerArgLeuTer)
|
rs2038517512
|
|
NM_000135.4(FANCA):c.3175C>G (p.Leu1059Val)
|
rs964650941
|
|
NM_000135.4(FANCA):c.3184_3186delinsTGCC (p.Gly1062fs)
|
rs2143138507
|
|
NM_000135.4(FANCA):c.3188G>A (p.Trp1063Ter)
|
rs1166286386
|
|
NM_000135.4(FANCA):c.3189G>A (p.Trp1063Ter)
|
rs776391208
|
|
NM_000135.4(FANCA):c.3190A>G (p.Ser1064Gly)
|
rs1014152202
|
|
NM_000135.4(FANCA):c.3206T>G (p.Leu1069Arg)
|
rs756620986
|
|
NM_000135.4(FANCA):c.3208del (p.Gln1070fs)
|
|
|
NM_000135.4(FANCA):c.3234C>G (p.Tyr1078Ter)
|
rs764030196
|
|
NM_000135.4(FANCA):c.3239+11C>G
|
rs200232122
|
|
NM_000135.4(FANCA):c.3239+1dup
|
rs766989857
|
|
NM_000135.4(FANCA):c.3239+82T>G
|
rs2038511531
|
|
NM_000135.4(FANCA):c.3239G>A (p.Arg1080Gln)
|
rs1555538571
|
|
NM_000135.4(FANCA):c.3239G>T (p.Arg1080Leu)
|
rs1555538571
|
|
NM_000135.4(FANCA):c.3240-2A>G
|
rs2038478110
|
|
NM_000135.4(FANCA):c.3240-3C>T
|
rs1315428324
|
|
NM_000135.4(FANCA):c.3251G>C (p.Arg1084Pro)
|
|
|
NM_000135.4(FANCA):c.3265G>A (p.Val1089Ile)
|
rs536839082
|
|
NM_000135.4(FANCA):c.3266T>G (p.Val1089Gly)
|
rs2038476999
|
|
NM_000135.4(FANCA):c.3267C>T (p.Val1089=)
|
rs994416299
|
|
NM_000135.4(FANCA):c.3286C>T (p.Gln1096Ter)
|
rs775799529
|
|
NM_000135.4(FANCA):c.3288G>C (p.Gln1096His)
|
rs1433848980
|
|
NM_000135.4(FANCA):c.3319C>T (p.Gln1107Ter)
|
|
|
NM_000135.4(FANCA):c.331_334dup (p.Leu112fs)
|
rs2040859131
|
|
NM_000135.4(FANCA):c.3329A>C (p.His1110Pro)
|
rs752837228
|
|
NM_000135.4(FANCA):c.3335T>G (p.Val1112Gly)
|
rs2038474528
|
|
NM_000135.4(FANCA):c.3339C>G (p.Asn1113Lys)
|
rs1236607168
|
|
NM_000135.4(FANCA):c.3348+1G>A
|
rs751266148
|
|
NM_000135.4(FANCA):c.3348+5G>A
|
rs1343799019
|
|
NM_000135.4(FANCA):c.3349-2A>G
|
rs2038409874
|
|
NM_000135.4(FANCA):c.3350G>C (p.Arg1117Thr)
|
rs2038409656
|
|
NM_000135.4(FANCA):c.3359_3361del (p.Cys1120del)
|
rs1314042335
|
|
NM_000135.4(FANCA):c.3409-2A>G
|
|
|
NM_000135.4(FANCA):c.3409-3_3417del
|
|
|
NM_000135.4(FANCA):c.3422C>A (p.Ala1141Asp)
|
rs587778318
|
|
NM_000135.4(FANCA):c.3424T>C (p.Cys1142Arg)
|
rs2038401184
|
|
NM_000135.4(FANCA):c.3478C>T (p.Gln1160Ter)
|
|
|
NM_000135.4(FANCA):c.3490C>T (p.Pro1164Ser)
|
rs545772434
|
|
NM_000135.4(FANCA):c.3491C>T (p.Pro1164Leu)
|
rs2038399117
|
|
NM_000135.4(FANCA):c.3500T>A (p.Leu1167Ter)
|
rs2038398856
|
|
NM_000135.4(FANCA):c.3504_3513+55del
|
|
|
NM_000135.4(FANCA):c.3513G>A (p.Leu1171=)
|
rs2038398296
|
|
NM_000135.4(FANCA):c.3514-1G>C
|
|
|
NM_000135.4(FANCA):c.3517TGG[1] (p.Trp1174del)
|
rs1555536446
|
|
NM_000135.4(FANCA):c.3518G>A (p.Trp1173Ter)
|
|
|
NM_000135.4(FANCA):c.3531G>A (p.Leu1177=)
|
rs886052482
|
|
NM_000135.4(FANCA):c.3532G>A (p.Glu1178Lys)
|
|
|
NM_000135.4(FANCA):c.3551G>A (p.Arg1184Gln)
|
rs147672303
|
|
NM_000135.4(FANCA):c.3555G>A (p.Trp1185Ter)
|
rs1185165443
|
|
NM_000135.4(FANCA):c.3558dup (p.Arg1187fs)
|
rs747851434
|
|
NM_000135.4(FANCA):c.3560dup (p.His1188fs)
|
rs2062211067
|
|
NM_000135.4(FANCA):c.3563dup (p.His1188fs)
|
|
|
NM_000135.4(FANCA):c.3568C>T (p.Gln1190Ter)
|
rs2062210802
|
|
NM_000135.4(FANCA):c.356C>G (p.Ser119Cys)
|
rs751309143
|
|
NM_000135.4(FANCA):c.3581C>T (p.Pro1194Leu)
|
rs1555536390
|
|
NM_000135.4(FANCA):c.3586G>T (p.Glu1196Ter)
|
rs1390620949
|
|
NM_000135.4(FANCA):c.3592C>T (p.Gln1198Ter)
|
rs1381684916
|
|
NM_000135.4(FANCA):c.3602AAG[1] (p.Glu1202del)
|
rs1380850249
|
|
NM_000135.4(FANCA):c.3610_3613del (p.Arg1204fs)
|
rs1555536361
|
|
NM_000135.4(FANCA):c.3611G>C (p.Arg1204Pro)
|
rs770622823
|
|
NM_000135.4(FANCA):c.3626+1G>T
|
rs34885858
|
|
NM_000135.4(FANCA):c.3626+5G>C
|
rs370801038
|
|
NM_000135.4(FANCA):c.3627-1G>A
|
rs2062172440
|
|
NM_000135.4(FANCA):c.3627-3_3627-2del
|
rs2062172458
|
|
NM_000135.4(FANCA):c.3629dup (p.Leu1211fs)
|
rs2062172394
|
|
NM_000135.4(FANCA):c.3630C>T (p.Phe1210=)
|
rs776001484
|
|
NM_000135.4(FANCA):c.3635C>T (p.Ser1212Phe)
|
rs1203053045
|
|
NM_000135.4(FANCA):c.3638_3639del (p.Pro1213fs)
|
rs1304878514
|
|
NM_000135.4(FANCA):c.3639del (p.Glu1214fs)
|
rs2062172051
|
|
NM_000135.4(FANCA):c.3640G>T (p.Glu1214Ter)
|
rs2062172011
|
|
NM_000135.4(FANCA):c.364G>T (p.Gly122Ter)
|
rs2040857662
|
|
NM_000135.4(FANCA):c.367C>T (p.Gln123Ter)
|
|
|
NM_000135.4(FANCA):c.3696del (p.Phe1232fs)
|
rs1555535527
|
|
NM_000135.4(FANCA):c.3698C>T (p.Ala1233Val)
|
rs545742908
|
|
NM_000135.4(FANCA):c.3701T>C (p.Ile1234Thr)
|
rs886052481
|
|
NM_000135.4(FANCA):c.3703CAA[1] (p.Gln1236del)
|
rs1555535513
|
|
NM_000135.4(FANCA):c.3715_3729del (p.Glu1239_Arg1243del)
|
rs1375036674
|
|
NM_000135.4(FANCA):c.3718G>C (p.Glu1240Gln)
|
rs150719428
|
|
NM_000135.4(FANCA):c.3720_3724del (p.Glu1240fs)
|
rs794726660
|
|
NM_000135.4(FANCA):c.3725_3727del (p.Ile1242del)
|
rs1441710252
|
|
NM_000135.4(FANCA):c.3745del (p.Leu1249fs)
|
rs1555535472
|
|
NM_000135.4(FANCA):c.3753C>A (p.Cys1251Ter)
|
rs752126515
|
|
NM_000135.4(FANCA):c.3760G>T (p.Glu1254Ter)
|
rs375700263
|
|
NM_000135.4(FANCA):c.3761_3762del (p.Glu1254fs)
|
rs868273545
|
|
NM_000135.4(FANCA):c.3761_3762dup (p.Glu1255fs)
|
rs868273545
|
|
NM_000135.4(FANCA):c.3761_3764dup (p.Leu1256fs)
|
rs2062169220
|
|
NM_000135.4(FANCA):c.3763_3765delinsC (p.Glu1255fs)
|
|
|
NM_000135.4(FANCA):c.3765+1G>A
|
|
|
NM_000135.4(FANCA):c.3765+1G>T
|
rs2062169124
|
|
NM_000135.4(FANCA):c.3765+2C>T
|
rs776827467
|
|
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.396T>G (p.Ser132Arg)
|
rs1272640964
|
|
NM_000135.4(FANCA):c.396dup (p.His133fs)
|
rs2040855193
|
|
NM_000135.4(FANCA):c.401dup (p.Val135fs)
|
rs1555575253
|
|
NM_000135.4(FANCA):c.402T>C (p.Pro134=)
|
rs745666586
|
|
NM_000135.4(FANCA):c.416_417del (p.Val139fs)
|
rs864622188
|
|
NM_000135.4(FANCA):c.424A>T (p.Arg142Ter)
|
rs2040853392
|
|
NM_000135.4(FANCA):c.426+1G>A
|
rs1343463467
|
|
NM_000135.4(FANCA):c.426+2T>G
|
rs1598190568
|
|
NM_000135.4(FANCA):c.427-2A>G
|
rs765684774
|
|
NM_000135.4(FANCA):c.427-8_427-5del
|
rs2040847430
|
|
NM_000135.4(FANCA):c.427A>T (p.Lys143Ter)
|
rs539460201
|
|
NM_000135.4(FANCA):c.448G>T (p.Glu150Ter)
|
rs947111024
|
|
NM_000135.4(FANCA):c.449_450del (p.Glu150fs)
|
|
|
NM_000135.4(FANCA):c.467T>A (p.Leu156Ter)
|
rs1419169954
|
|
NM_000135.4(FANCA):c.470C>T (p.Ala157Val)
|
rs1251792942
|
|
NM_000135.4(FANCA):c.487del (p.Arg163fs)
|
rs2040845588
|
|
NM_000135.4(FANCA):c.495del (p.Phe166fs)
|
rs2143677288
|
|
NM_000135.4(FANCA):c.505G>A (p.Glu169Lys)
|
rs372691338
|
|
NM_000135.4(FANCA):c.505G>C (p.Glu169Gln)
|
|
|
NM_000135.4(FANCA):c.505G>T (p.Glu169Ter)
|
rs372691338
|
|
NM_000135.4(FANCA):c.513G>A (p.Trp171Ter)
|
rs121907930
|
|
NM_000135.4(FANCA):c.513dup (p.Lys172fs)
|
rs1555574913
|
|
NM_000135.4(FANCA):c.515A>G (p.Lys172Arg)
|
rs2040844359
|
|
NM_000135.4(FANCA):c.520C>T (p.Gln174Ter)
|
rs1454055874
|
|
NM_000135.4(FANCA):c.522+2T>G
|
|
|
NM_000135.4(FANCA):c.522+507_793-1273del
|
|
|
NM_000135.4(FANCA):c.523-1G>T
|
rs1477653630
|
|
NM_000135.4(FANCA):c.523-2A>G
|
rs746518509
|
|
NM_000135.4(FANCA):c.523-37TTGTTT[2]
|
rs530849202
|
|
NM_000135.4(FANCA):c.527C>G (p.Ser176Cys)
|
rs35566151
|
|
NM_000135.4(FANCA):c.539_540dup (p.Ala181fs)
|
|
|
NM_000135.4(FANCA):c.542C>A (p.Ala181Glu)
|
rs17232246
|
|
NM_000135.4(FANCA):c.549G>A (p.Trp183Ter)
|
rs758528624
|
|
NM_000135.4(FANCA):c.558C>G (p.His186Gln)
|
rs149159377
|
|
NM_000135.4(FANCA):c.558C>T (p.His186=)
|
rs149159377
|
|
NM_000135.4(FANCA):c.560_561insGAGT (p.Gln188fs)
|
rs2143657184
|
|
NM_000135.4(FANCA):c.590T>C (p.Leu197Pro)
|
rs886052488
|
|
NM_000135.4(FANCA):c.596+2T>C
|
rs1555573118
|
|
NM_000135.4(FANCA):c.596+548_793-219del
|
|
|
NM_000135.4(FANCA):c.597-2A>G
|
rs2040602804
|
|
NM_000135.4(FANCA):c.627G>A (p.Trp209Ter)
|
|
|
NM_000135.4(FANCA):c.629T>G (p.Leu210Arg)
|
rs2040601073
|
|
NM_000135.4(FANCA):c.658C>T (p.Gln220Ter)
|
rs775697743
|
|
NM_000135.4(FANCA):c.683C>G (p.Ala228Gly)
|
rs1354884515
|
|
NM_000135.4(FANCA):c.691G>A (p.Ala231Thr)
|
rs746814384
|
|
NM_000135.4(FANCA):c.691G>T (p.Ala231Ser)
|
rs746814384
|
|
NM_000135.4(FANCA):c.709+1G>A
|
rs753211631
|
|
NM_000135.4(FANCA):c.709+2T>C
|
rs1555571116
|
|
NM_000135.4(FANCA):c.709+5G>T
|
rs759877008
|
|
NM_000135.4(FANCA):c.710-10G>A
|
rs2040524006
|
|
NM_000135.4(FANCA):c.710-142_710-141dup
|
rs17232344
|
|
NM_000135.4(FANCA):c.710-1G>C
|
rs1388128874
|
|
NM_000135.4(FANCA):c.710-20_710-19del
|
rs2040524550
|
|
NM_000135.4(FANCA):c.710-2A>G
|
rs2040523467
|
|
NM_000135.4(FANCA):c.710-5T>C
|
rs2040523640
|
|
NM_000135.4(FANCA):c.714dup (p.Val239fs)
|
|
|
NM_000135.4(FANCA):c.718C>T (p.Gln240Ter)
|
rs1184639006
|
|
NM_000135.4(FANCA):c.732G>C (p.Leu244Phe)
|
rs2040522671
|
|
NM_000135.4(FANCA):c.742C>A (p.Gln248Lys)
|
rs760744752
|
|
NM_000135.4(FANCA):c.752C>T (p.Ser251Leu)
|
rs878853666
|
|
NM_000135.4(FANCA):c.754_755delinsAG (p.Asp252Ser)
|
rs587778324
|
|
NM_000135.4(FANCA):c.761GAA[1] (p.Arg255del)
|
rs555210441
|
|
NM_000135.4(FANCA):c.767C>A (p.Thr256Asn)
|
rs377078635
|
|
NM_000135.4(FANCA):c.768T>C (p.Thr256=)
|
rs1459779461
|
|
NM_000135.4(FANCA):c.775C>G (p.Pro259Ala)
|
rs200988394
|
|
NM_000135.4(FANCA):c.776C>G (p.Pro259Arg)
|
rs1598173112
|
|
NM_000135.4(FANCA):c.784del (p.Met262fs)
|
rs2040520715
|
|
NM_000135.4(FANCA):c.790C>T (p.Gln264Ter)
|
rs1353992080
|
|
NM_000135.4(FANCA):c.792+1G>C
|
|
|
NM_000135.4(FANCA):c.792G>A (p.Gln264=)
|
rs2040520107
|
|
NM_000135.4(FANCA):c.793-2A>C
|
rs2040372065
|
|
NM_000135.4(FANCA):c.793-2A>T
|
|
|
NM_000135.4(FANCA):c.795_808del (p.Thr266fs)
|
rs2040370883
|
|
NM_000135.4(FANCA):c.80-1G>T
|
rs751076878
|
|
NM_000135.4(FANCA):c.80-2A>G
|
|
|
NM_000135.4(FANCA):c.80-8C>G
|
rs749080227
|
|
NM_000135.4(FANCA):c.80-99_105del
|
|
|
NM_000135.4(FANCA):c.820C>T (p.Leu274=)
|
rs2040370137
|
|
NM_000135.4(FANCA):c.826+4del
|
rs2040369776
|
|
NM_000135.4(FANCA):c.826+5_826+9del
|
rs797045570
|
|
NM_000135.4(FANCA):c.827-1G>C
|
rs753728435
|
|
NM_000135.4(FANCA):c.827-1G>T
|
rs753728435
|
|
NM_000135.4(FANCA):c.827-2A>G
|
rs2040355782
|
|
NM_000135.4(FANCA):c.82G>T (p.Gly28Ter)
|
rs2041102320
|
|
NM_000135.4(FANCA):c.83del (p.Gly28fs)
|
|
|
NM_000135.4(FANCA):c.843G>C (p.Leu281Phe)
|
rs2143581630
|
|
NM_000135.4(FANCA):c.851dup (p.Val285fs)
|
rs1369685302
|
|
NM_000135.4(FANCA):c.863_866dup (p.Ser290fs)
|
rs1348367722
|
|
NM_000135.4(FANCA):c.86G>T (p.Arg29Met)
|
rs764561391
|
|
NM_000135.4(FANCA):c.88del (p.Val30fs)
|
rs2041101804
|
|
NM_000135.4(FANCA):c.891_893+1del
|
rs2040352874
|
|
NM_000135.4(FANCA):c.893+1G>T
|
rs2040352832
|
|
NM_000135.4(FANCA):c.893+2T>A
|
|
|
NM_000135.4(FANCA):c.893+920C>A
|
rs1174586234
|
|
NM_000135.4(FANCA):c.894-1137_1359+1837del
|
|
|
NM_000135.4(FANCA):c.894-1G>A
|
rs2040234338
|
|
NM_000135.4(FANCA):c.894-3C>G
|
rs2040234388
|
|
NM_000135.4(FANCA):c.894_1006del (p.Trp298Cysfs)
|
|
|
NM_000135.4(FANCA):c.898G>A (p.Gly300Arg)
|
rs1467900630
|
|
NM_000135.4(FANCA):c.916_917del (p.Thr306fs)
|
rs764122657
|
|
NM_000135.4(FANCA):c.924C>A (p.Gly308=)
|
rs143255238
|
|
NM_000135.4(FANCA):c.933_936delinsCT (p.Ser312fs)
|
rs2040232900
|
|
NM_000135.4(FANCA):c.94del (p.Arg32fs)
|
|
|
NM_000135.4(FANCA):c.964C>T (p.His322Tyr)
|
rs772768595
|
|
NM_000135.4(FANCA):c.971T>C (p.Leu324Pro)
|
|
|
NM_000135.4(FANCA):c.971T>G (p.Leu324Arg)
|
rs1447363475
|
|
NM_000135.4(FANCA):c.978_979del (p.Gln326fs)
|
rs2040231133
|
|
NM_000135.4(FANCA):c.97del (p.Glu33fs)
|
rs786204238
|
|
NM_000135.4(FANCA):c.987_990del (p.His330fs)
|
rs772359099
|
|
NM_000135.4(FANCA):c.989_995del (p.His330fs)
|
rs1555564451
|
|
NM_000135.4(FANCA):c.994C>A (p.Pro332Thr)
|
rs1056497675
|
|
Single allele
|
|
|